7-21582745-C-T |
c.-119C>T |
- |
IntergenicSNV |
1/82 |
- |
1 |
7-21582803-G-A |
c.-61G>A |
- |
IntergenicSNV |
1/82 |
- |
1 |
7-21582803-G-C |
c.-61G>C |
- |
IntergenicSNV |
1/82 |
- |
1 |
7-21582803-G-T |
c.-61G>T |
- |
IntergenicSNV |
1/82 |
- |
1 |
7-21582804-G-A |
c.-60G>A |
- |
IntergenicSNV |
1/82 |
- |
1 |
7-21582837-C-A |
c.-27C>A |
- |
5-UTRSNV |
1/82 |
- |
3 |
7-21582867-G-A |
c.4G>A |
p.A2T |
Missense |
1/82 |
- |
1 |
7-21582867-G-T |
c.4G>T |
p.A2S |
Missense |
1/82 |
- |
2 |
7-21582868-C-T |
c.5C>T |
p.A2V |
Missense |
1/82 |
- |
1 |
7-21582869-A-C |
c.6A>C |
p.A2= |
Synonymous |
1/82 |
- |
1 |
7-21582869-A-G |
c.6A>G |
p.A2= |
Synonymous |
1/82 |
- |
1 |
7-21582869-A-T |
c.6A>T |
p.A2= |
Synonymous |
1/82 |
- |
1 |
7-21582871-C-T |
c.8C>T |
p.A3V |
Missense |
1/82 |
- |
2 |
7-21582872-C-A |
c.9C>A |
p.A3= |
Synonymous |
1/82 |
- |
1 |
7-21582872-C-G |
c.9C>G |
p.A3= |
Synonymous |
1/82 |
- |
1 |
7-21582872-C-T |
c.9C>T |
p.A3= |
Synonymous |
1/82 |
- |
2 |
7-21582873-CCAG-C |
c.10_12del |
p.Q4del |
InFrameDeletion |
1/82 |
- |
1 |
7-21582875-G-A |
c.12G>A |
p.Q4= |
Synonymous |
1/82 |
- |
1 |
7-21582876-GTG-TTT |
c.13_15delinsTTT |
p.V5F |
Missense |
1/82 |
- |
1 |
7-21582879-G-C |
c.16G>C |
p.A6P |
Missense |
1/82 |
- |
1 |
7-21582879-G-T |
c.16G>T |
p.A6S |
Missense |
1/82 |
- |
1 |
7-21582882-G-T |
c.19G>T |
p.A7S |
Missense |
1/82 |
- |
1 |
7-21582885-CCGG-C |
c.22_24del |
p.R8del |
InFrameDeletion |
1/82 |
- |
1 |
7-21582885-C-G |
c.22C>G |
p.R8G |
Missense |
1/82 |
- |
1 |
7-21582886-G-A |
c.23G>A |
p.R8Q |
Missense |
1/82 |
- |
1 |
7-21582886-G-T |
c.23G>T |
p.R8L |
Missense |
1/82 |
- |
1 |
7-21582888-G-A |
c.25G>A |
p.E9K |
Missense |
1/82 |
- |
1 |
7-21582889-A-G |
c.26A>G |
p.E9G |
Missense |
1/82 |
- |
1 |
7-21582889-A-T |
c.26A>T |
p.E9V |
Missense |
1/82 |
- |
1 |
7-21582891-G-A |
c.28G>A |
p.A10T |
Missense |
1/82 |
- |
1 |
7-21582891-GC-AT |
c.28_29delinsAT |
p.A10M |
Missense |
1/82 |
- |
1 |
7-21582891-GCG-TAT |
c.28_30delinsTAT |
p.A10Y |
Missense |
1/82 |
- |
2 |
7-21582891-GCG-TGT |
c.28_30delinsTGT |
p.A10C |
Missense |
1/82 |
- |
1 |
7-21582891-GC-TG |
c.28_29delinsTG |
p.A10W |
Missense |
1/82 |
- |
1 |
7-21582891-G-T |
c.28G>T |
p.A10S |
Missense |
1/82 |
- |
2 |
7-21582892-C-A |
c.29C>A |
p.A10E |
Missense |
1/82 |
- |
1 |
7-21582892-C-G |
c.29C>G |
p.A10G |
Missense |
1/82 |
- |
1 |
7-21582892-C-T |
c.29C>T |
p.A10V |
Missense |
1/82 |
- |
1 |
7-21582894-C-A |
c.31C>A |
p.R11= |
Synonymous |
1/82 |
- |
1 |
7-21582894-C-T |
c.31C>T |
p.R11* |
Nonsense |
1/82 |
- |
2 |
7-21582896-A-C |
c.33A>C |
p.R11= |
Synonymous |
1/82 |
- |
1 |
7-21582896-A-G |
c.33A>G |
p.R11= |
Synonymous |
1/82 |
- |
1 |
7-21582896-A-T |
c.33A>T |
p.R11= |
Synonymous |
1/82 |
- |
1 |
7-21582894-CGAGACTTCA-C |
c.36_44del |
p.D12_R14del |
InFrameDeletion |
1/82 |
- |
1 |
7-21582899-C-T |
c.36C>T |
p.D12= |
Synonymous |
1/82 |
- |
1 |
7-21582903-A-T |
c.40A>T |
p.R14* |
Nonsense |
1/82 |
- |
1 |
7-21582904-G-C |
c.41G>C |
p.R14T |
Missense |
1/82 |
- |
1 |
7-21582906-G-A |
c.43G>A |
p.E15K |
Missense |
1/82 |
- |
1 |
7-21582906-G-T |
c.43G>T |
p.E15* |
Nonsense |
1/82 |
- |
1 |
7-21582909-GCC-TAA |
c.46_48delinsTAA |
p.A16* |
Nonsense |
1/82 |
- |
2 |
7-21582909-GC-TA |
c.46_47delinsTA |
p.A16Y |
Missense |
1/82 |
- |
2 |
7-21582909-GC-TG |
c.46_47delinsTG |
p.A16C |
Missense |
1/82 |
- |
1 |
7-21582909-GC-TT |
c.46_47delinsTT |
p.A16F |
Missense |
1/82 |
- |
2 |
7-21582910-C-A |
c.47C>A |
p.A16D |
Missense |
1/82 |
- |
2 |
7-21582910-C-T |
c.47C>T |
p.A16V |
Missense |
1/82 |
- |
1 |
7-21582911-C-A |
c.48C>A |
p.A16= |
Synonymous |
1/82 |
- |
1 |
7-21582911-C-G |
c.48C>G |
p.A16= |
Synonymous |
1/82 |
- |
1 |
7-21582911-C-T |
c.48C>T |
p.A16= |
Synonymous |
1/82 |
- |
1 |
7-21582912-C-A |
c.49C>A |
p.P17T |
Missense |
1/82 |
- |
1 |
7-21582912-CCGA-C |
c.51_53del |
p.T18del |
InFrameDeletion |
1/82 |
- |
1 |
7-21582914-G-A |
c.51G>A |
p.P17= |
Synonymous |
1/82 |
- |
1 |
7-21582914-G-C |
c.51G>C |
p.P17= |
Synonymous |
1/82 |
- |
1 |
7-21582914-G-T |
c.51G>T |
p.P17= |
Synonymous |
1/82 |
- |
1 |
7-21582916-C-T |
c.53C>T |
p.T18I |
Missense |
1/82 |
- |
1 |
7-21582917-C-A |
c.54C>A |
p.T18= |
Synonymous |
1/82 |
- |
2 |
7-21582917-C-G |
c.54C>G |
p.T18= |
Synonymous |
1/82 |
- |
2 |
7-21582917-C-T |
c.54C>T |
p.T18= |
Synonymous |
1/82 |
- |
13 |
7-21582921-C-A |
c.58C>A |
p.R20S |
Missense |
1/82 |
- |
5 |
7-21582921-C-G |
c.58C>G |
p.R20G |
Missense |
1/82 |
- |
1 |
7-21582922-G-A |
c.59G>A |
p.R20H |
Missense |
1/82 |
- |
2 |
7-21582923-C-A |
c.60C>A |
p.R20= |
Synonymous |
1/82 |
- |
1 |
7-21582923-C-G |
c.60C>G |
p.R20= |
Synonymous |
1/82 |
- |
1 |
7-21582923-C-T |
c.60C>T |
p.R20= |
Synonymous |
1/82 |
- |
1 |
7-21582924-C-T |
c.61C>T |
p.L21= |
Synonymous |
1/82 |
- |
1 |
7-21582927-A-G |
c.64A>G |
p.T22A |
Missense |
1/82 |
- |
1 |
7-21582928-ACCTCGGGGGCCG-A |
c.65_76del |
p.T22_G26delinsS |
MultiAAMissense |
1/82 |
- |
1 |
7-21582927-ACCT-A |
c.66_68del |
p.S23del |
InFrameDeletion |
1/82 |
- |
1 |
7-21582931-C-T |
c.68C>T |
p.S23L |
Missense |
1/82 |
- |
1 |
7-21582932-G-A |
c.69G>A |
p.S23= |
Synonymous |
1/82 |
- |
1 |
7-21582932-G-C |
c.69G>C |
p.S23= |
Synonymous |
1/82 |
- |
1 |
7-21582932-G-T |
c.69G>T |
p.S23= |
Synonymous |
1/82 |
- |
1 |
7-21582936-G-A |
c.73G>A |
p.A25T |
Missense |
1/82 |
- |
4 |
7-21582936-G-C |
c.73G>C |
p.A25P |
Missense |
1/82 |
- |
1 |
7-21582936-GCC-TAA |
c.73_75delinsTAA |
p.A25* |
Nonsense |
1/82 |
- |
1 |
7-21582937-C-A |
c.74C>A |
p.A25D |
Missense |
1/82 |
- |
1 |
7-21582937-CC-AG |
c.74_75delinsAG |
p.A25E |
Missense |
1/82 |
- |
1 |
7-21582937-C-T |
c.74C>T |
p.A25V |
Missense |
1/82 |
- |
1 |
7-21582942-C-G |
c.79C>G |
p.L27V |
Missense |
1/82 |
- |
1 |
7-21582942-C-T |
c.79C>T |
p.L27= |
Synonymous |
1/82 |
- |
1 |
7-21582945-G-A |
c.82G>A |
p.E28K |
Missense |
1/82 |
- |
3 |
7-21582948-G-A |
c.85G>A |
p.A29T |
Missense |
1/82 |
- |
3 |
7-21582948-GCA-ATG |
c.85_87delinsATG |
p.A29M |
Missense |
1/82 |
- |
3 |
7-21582948-GC-CT |
c.85_86delinsCT |
p.A29L |
Missense |
1/82 |
- |
3 |
7-21582948-G-T |
c.85G>T |
p.A29S |
Missense |
1/82 |
- |
1 |
7-21582949-CA-AC |
c.86_87delinsAC |
p.A29D |
Missense |
1/82 |
- |
2 |
7-21582949-C-T |
c.86C>T |
p.A29V |
Missense |
1/82 |
- |
5 |
7-21582951-G-A |
c.88G>A |
p.V30M |
Missense |
1/82 |
- |
4 |
7-21582951-GTG-ATC |
c.88_90delinsATC |
p.V30I |
Missense |
1/82 |
- |
1 |
7-21582954-G-A |
c.91G>A |
p.G31S |
Missense |
1/82 |
- |
1 |
7-21582957-G-A |
c.94G>A |
p.A32T |
Missense |
1/82 |
- |
3 |
7-21582957-G-T |
c.94G>T |
p.A32S |
Missense |
1/82 |
- |
2 |
7-21582958-C-A |
c.95C>A |
p.A32D |
Missense |
1/82 |
- |
1 |
7-21582958-C-G |
c.95C>G |
p.A32G |
Missense |
1/82 |
- |
1 |
7-21582959-T-C |
c.96T>C |
p.A32= |
Synonymous |
1/82 |
- |
1 |
7-21582960-G-A |
c.97G>A |
p.V33M |
Missense |
1/82 |
- |
1 |
7-21582962-G-A |
c.99G>A |
p.V33= |
Synonymous |
1/82 |
- |
2 |
7-21582962-G-C |
c.99G>C |
p.V33= |
Synonymous |
1/82 |
- |
2 |
7-21582962-G-T |
c.99G>T |
p.V33= |
Synonymous |
1/82 |
- |
2 |
7-21582963-G-A |
c.100G>A |
p.E34K |
Missense |
1/82 |
- |
2 |
7-21582963-GA-CT |
c.100_101delinsCT |
p.E34L |
Missense |
1/82 |
- |
8 |
7-21582963-GA-TT |
c.100_101delinsTT |
p.E34L |
Missense |
1/82 |
- |
4 |
7-21582963-G-T |
c.100G>T |
p.E34* |
Nonsense |
1/82 |
- |
25 |
7-21582964-A-T |
c.101A>T |
p.E34V |
Missense |
1/82 |
- |
25 |
7-21582965-G-A |
c.102G>A |
p.E34= |
Synonymous |
1/82 |
- |
1 |
7-21582967-T-C |
c.104T>C |
p.L35P |
Missense |
1/82 |
- |
2 |
7-21582968-C-T |
c.105C>T |
p.L35= |
Synonymous |
1/82 |
- |
1 |
7-21582970-A-G |
c.107A>G |
p.E36G |
Missense |
1/82 |
- |
1 |
7-21582971-G-A |
c.108G>A |
p.E36= |
Synonymous |
1/82 |
- |
1 |
7-21582971-G-C |
c.108G>C |
p.E36D |
Missense |
1/82 |
- |
1 |
7-21582971-G-T |
c.108G>T |
p.E36D |
Missense |
1/82 |
- |
2 |
7-21582972-G-A |
c.109G>A |
p.E37K |
Missense |
1/82 |
- |
1 |
7-21582972-G-C |
c.109G>C |
p.E37Q |
Missense |
1/82 |
- |
1 |
7-21582977-G-C |
c.114G>C |
p.E38D |
Missense |
1/82 |
- |
2 |
7-21582977-G-T |
c.114G>T |
p.E38D |
Missense |
1/82 |
- |
2 |
7-21582978-G-A |
c.115G>A |
p.E39K |
Missense |
1/82 |
- |
2 |
7-21582980-G-C |
c.117G>C |
p.E39D |
Missense |
1/82 |
- |
1 |
7-21582980-G-T |
c.117G>T |
p.E39D |
Missense |
1/82 |
- |
1 |
7-21582968-CGAG-C |
c.118_120del |
p.E40del |
InFrameDeletion |
1/82 |
- |
8 |
7-21582981-G-A |
c.118G>A |
p.E40K |
Missense |
1/82 |
- |
1 |
7-21582981-G-C |
c.118G>C |
p.E40Q |
Missense |
1/82 |
- |
1 |
7-21582971-GGAGGAGGAGGAGAAC-G |
c.119_133del |
p.E40_E44del |
InFrameDeletion |
1/82 |
- |
1 |
7-21582983-G-C |
c.120G>C |
p.E40D |
Missense |
1/82 |
- |
1 |
7-21582983-G-T |
c.120G>T |
p.E40D |
Missense |
1/82 |
- |
2 |
7-21582984-A-G |
c.121A>G |
p.N41D |
Missense |
1/82 |
- |
1 |
7-21582985-A-G |
c.122A>G |
p.N41S |
Missense |
1/82 |
- |
1 |
7-21582987-G-A |
c.124G>A |
p.E42K |
Missense |
1/82 |
- |
2 |
7-21582987-G-C |
c.124G>C |
p.E42Q |
Missense |
1/82 |
- |
1 |
7-21582987-G-T |
c.124G>T |
p.E42* |
Nonsense |
1/82 |
- |
1 |
7-21582989-G-A |
c.126G>A |
p.E42= |
Synonymous |
1/82 |
- |
2 |
7-21582989-G-C |
c.126G>C |
p.E42D |
Missense |
1/82 |
- |
1 |
7-21582990-G-A |
c.127G>A |
p.E43K |
Missense |
1/82 |
- |
5 |
7-21582990-G-C |
c.127G>C |
p.E43Q |
Missense |
1/82 |
- |
1 |
7-21582990-G-T |
c.127G>T |
p.E43* |
Nonsense |
1/82 |
- |
1 |
7-21582992-G-A |
c.129G>A |
p.E43= |
Synonymous |
1/82 |
- |
1 |
7-21582992-G-C |
c.129G>C |
p.E43D |
Missense |
1/82 |
- |
1 |
7-21582992-G-T |
c.129G>T |
p.E43D |
Missense |
1/82 |
- |
2 |
7-21582993-G-T |
c.130G>T |
p.E44* |
Nonsense |
1/82 |
- |
1 |
7-21582995-G-T |
c.132G>T |
p.E44D |
Missense |
1/82 |
- |
1 |
7-21582996-G-A |
c.133G>A |
p.A45T |
Missense |
1/82 |
- |
3 |
7-21582997-C-A |
c.134C>A |
p.A45E |
Missense |
1/82 |
- |
2 |
7-21582997-C-T |
c.134C>T |
p.A45V |
Missense |
1/82 |
- |
1 |
7-21582999-GC-AA |
c.136_137delinsAA |
p.A46K |
Missense |
1/82 |
- |
1 |
7-21582999-GC-AT |
c.136_137delinsAT |
p.A46M |
Missense |
1/82 |
- |
1 |
7-21582999-GC-CT |
c.136_137delinsCT |
p.A46L |
Missense |
1/82 |
- |
2 |
7-21582999-GCG-AAC |
c.136_138delinsAAC |
p.A46N |
Missense |
1/82 |
- |
1 |
7-21583000-C-T |
c.137C>T |
p.A46V |
Missense |
1/82 |
- |
1 |
7-21583001-G-A |
c.138G>A |
p.A46= |
Synonymous |
1/82 |
- |
1 |
7-21583001-G-C |
c.138G>C |
p.A46= |
Synonymous |
1/82 |
- |
1 |
7-21583001-G-T |
c.138G>T |
p.A46= |
Synonymous |
1/82 |
- |
1 |
7-21583002-G-T |
c.139G>T |
p.A47S |
Missense |
1/82 |
- |
1 |
7-21583004-C-A |
c.141C>A |
p.A47= |
Synonymous |
1/82 |
- |
1 |
7-21583004-C-G |
c.141C>G |
p.A47= |
Synonymous |
1/82 |
- |
1 |
7-21583004-C-T |
c.141C>T |
p.A47= |
Synonymous |
1/82 |
- |
1 |
7-21583005-AG-CA |
c.142_143delinsCA |
p.R48Q |
Missense |
1/82 |
- |
1 |
7-21583006-G-A |
c.143G>A |
p.R48K |
Missense |
1/82 |
- |
2 |
7-21583006-G-C |
c.143G>C |
p.R48T |
Missense |
1/82 |
- |
1 |
7-21583009-GA-TG |
c.146_147delinsTG |
p.R49M |
Missense |
1/82 |
- |
1 |
7-21583011-G-A |
c.148G>A |
p.A50T |
Missense |
1/82 |
- |
3 |
7-21583011-GCG-TAT |
c.148_150delinsTAT |
p.A50Y |
Missense |
1/82 |
- |
1 |
7-21583011-G-T |
c.148G>T |
p.A50S |
Missense |
1/82 |
- |
1 |
7-21583012-C-T |
c.149C>T |
p.A50V |
Missense |
1/82 |
- |
1 |
7-21583012-GCGC-G |
c.149_151del |
p.A50_R51delinsG |
MultiAAMissense |
1/82 |
- |
1 |
7-21583013-G-A |
c.150G>A |
p.A50= |
Synonymous |
1/82 |
- |
1 |
7-21583013-G-C |
c.150G>C |
p.A50= |
Synonymous |
1/82 |
- |
1 |
7-21583013-G-T |
c.150G>T |
p.A50= |
Synonymous |
1/82 |
- |
1 |
7-21583014-C-A |
c.151C>A |
p.R51= |
Synonymous |
1/82 |
- |
2 |
7-21583014-C-G |
c.151C>G |
p.R51G |
Missense |
1/82 |
- |
2 |
7-21583014-C-T |
c.151C>T |
p.R51W |
Missense |
1/82 |
- |
2 |
7-21583016-G-A |
c.153G>A |
p.R51= |
Synonymous |
1/82 |
- |
2 |
7-21583016-G-C |
c.153G>C |
p.R51= |
Synonymous |
1/82 |
- |
3 |
7-21583016-G-T |
c.153G>T |
p.R51= |
Synonymous |
1/82 |
- |
2 |
7-21583015-G-A |
c.152G>A |
p.R51Q |
Missense |
1/82 |
- |
2 |
7-21583015-G-C |
c.152G>C |
p.R51P |
Missense |
1/82 |
- |
1 |
7-21583017-A-T |
c.154A>T |
p.S52C |
Missense |
1/82 |
- |
1 |
7-21583020-T-C |
c.157T>C |
p.F53L |
Missense |
1/82 |
- |
1 |
7-21583022-C-A |
c.159C>A |
p.F53L |
Missense |
1/82 |
- |
1 |
7-21583022-C-G |
c.159C>G |
p.F53L |
Missense |
1/82 |
- |
1 |
7-21583021-T-C |
c.158T>C |
p.F53S |
Missense |
1/82 |
- |
1 |
7-21583023-G-A |
c.160G>A |
p.A54T |
Missense |
1/82 |
- |
2 |
7-21583026-C-T |
c.163C>T |
p.Q55* |
Nonsense |
1/82 |
- |
1 |
7-21583027-A-G |
c.164A>G |
p.Q55R |
Missense |
1/82 |
- |
1 |
7-21583029-G-A |
c.166G>A |
p.D56N |
Missense |
1/82 |
- |
1 |
7-21583031-C-G |
c.168C>G |
p.D56E |
Missense |
1/82 |
- |
1 |
7-21583032-G-A |
c.169G>A |
p.A57T |
Missense |
1/82 |
- |
1 |
7-21583035-C-G |
c.172C>G |
p.R58G |
Missense |
1/82 |
- |
1 |
7-21583035-CG-AA |
c.172_173delinsAA |
p.R58K |
Missense |
1/82 |
- |
1 |
7-21583035-CG-TA |
c.172_173delinsTA |
p.R58* |
Nonsense |
1/82 |
- |
1 |
7-21583035-C-T |
c.172C>T |
p.R58W |
Missense |
1/82 |
- |
1 |
7-21583036-G-A |
c.173G>A |
p.R58Q |
Missense |
1/82 |
- |
1 |
7-21583036-G-T |
c.173G>T |
p.R58L |
Missense |
1/82 |
- |
1 |
7-21583037-G-A |
c.174G>A |
p.R58= |
Synonymous |
1/82 |
- |
1 |
7-21583037-G-T |
c.174G>T |
p.R58= |
Synonymous |
1/82 |
- |
1 |
7-21583039-TG-AC |
c.176_177delinsAC |
p.V59D |
Missense |
1/82 |
- |
1 |
7-21583041-CGC-AAG |
c.178_180delinsAAG |
p.R60K |
Missense |
1/82 |
- |
1 |
7-21583041-C-T |
c.178C>T |
p.R60C |
Missense |
1/82 |
- |
2 |
7-21583042-G-A |
c.179G>A |
p.R60H |
Missense |
1/82 |
- |
1 |
7-21583042-G-C |
c.179G>C |
p.R60P |
Missense |
1/82 |
- |
1 |
7-21583044-T-G |
c.181T>G |
p.F61V |
Missense |
1/82 |
- |
1 |
7-21583049-C-G |
c.186C>G |
p.L62= |
Synonymous |
1/82 |
- |
1 |
7-21583050-G-A |
c.187G>A |
p.G63S |
Missense |
1/82 |
- |
1 |
7-21583050-G-T |
c.187G>T |
p.G63C |
Missense |
1/82 |
- |
1 |
7-21583054-G-A |
c.191G>A |
p.G64D |
Missense |
1/82 |
- |
1 |
7-21583054-G-C |
c.191G>C |
p.G64A |
Missense |
1/82 |
- |
1 |
7-21583056-C-A |
c.193C>A |
p.R65S |
Missense |
1/82 |
- |
1 |
7-21583056-CGC-TGG |
c.193_195delinsTGG |
p.R65W |
Missense |
1/82 |
- |
1 |
7-21583058-C-A |
c.195C>A |
p.R65= |
Synonymous |
1/82 |
- |
1 |
7-21583058-C-G |
c.195C>G |
p.R65= |
Synonymous |
1/82 |
- |
1 |
7-21583058-C-T |
c.195C>T |
p.R65= |
Synonymous |
1/82 |
- |
1 |
7-21583060-T-A |
c.197T>A |
p.L66Q |
Missense |
1/82 |
- |
1 |
7-21583060-T-C |
c.197T>C |
p.L66P |
Missense |
1/82 |
- |
1 |
7-21583061-G-T |
c.198G>T |
p.L66= |
Synonymous |
1/82 |
- |
1 |
7-21583062-G-C |
c.199G>C |
p.A67P |
Missense |
1/82 |
- |
1 |
7-21583062-GC-AT |
c.199_200delinsAT |
p.A67M |
Missense |
1/82 |
- |
1 |
7-21583063-C-T |
c.200C>T |
p.A67V |
Missense |
1/82 |
- |
1 |
7-21583064-G-T |
c.201G>T |
p.A67= |
Synonymous |
1/82 |
- |
1 |
7-21583067-G-C |
c.204G>C |
p.M68I |
Missense |
1/82 |
- |
1 |
7-21583071-C-T |
c.208C>T |
p.L70= |
Synonymous |
1/82 |
- |
3 |
7-21583073-G-A |
c.210G>A |
p.L70= |
Synonymous |
1/82 |
- |
3 |
7-21583073-G-C |
c.210G>C |
p.L70= |
Synonymous |
1/82 |
- |
3 |
7-21583073-G-T |
c.210G>T |
p.L70= |
Synonymous |
1/82 |
- |
3 |
7-21583076-G-C |
c.213G>C |
p.G71= |
Synonymous |
1/82 |
- |
1 |
7-21583077-T-C |
c.214T>C |
p.F72L |
Missense |
1/82 |
- |
2 |
7-21583079-C-A |
c.216C>A |
p.F72L |
Missense |
1/82 |
- |
2 |
7-21583079-C-G |
c.216C>G |
p.F72L |
Missense |
1/82 |
- |
2 |
7-21583079-C-T |
c.216C>T |
p.F72= |
Synonymous |
1/82 |
- |
2 |
7-21583082-G-A |
c.219G>A |
p.T73= |
Synonymous |
1/82 |
- |
1 |
7-21583082-G-C |
c.219G>C |
p.T73= |
Synonymous |
1/82 |
- |
1 |
7-21583082-G-T |
c.219G>T |
p.T73= |
Synonymous |
1/82 |
- |
1 |
7-21583083-G-A |
c.220G>A |
p.E74K |
Missense |
1/82 |
- |
1 |
7-21583083-GAG-TGT |
c.220_222delinsTGT |
p.E74C |
Missense |
1/82 |
- |
1 |
7-21583083-G-C |
c.220G>C |
p.E74Q |
Missense |
1/82 |
- |
1 |
7-21583083-G-T |
c.220G>T |
p.E74* |
Nonsense |
1/82 |
- |
1 |
7-21583084-A-G |
c.221A>G |
p.E74G |
Missense |
1/82 |
- |
1 |
7-21583086-G-A |
c.223G>A |
p.E75K |
Missense |
1/82 |
- |
1 |
7-21583086-G-T |
c.223G>T |
p.E75* |
Nonsense |
1/82 |
- |
1 |
7-21583088-G-C |
c.225G>C |
p.E75D |
Missense |
1/82 |
- |
1 |
7-21583088-G-T |
c.225G>T |
p.E75D |
Missense |
1/82 |
- |
1 |
7-21583090-A-G |
c.227A>G |
p.K76R |
Missense |
1/82 |
- |
1 |
7-21583092-T-C |
c.229T>C |
p.W77R |
Missense |
1/82 |
- |
1 |
7-21583093-G-T |
c.230G>T |
p.W77L |
Missense |
1/82 |
- |
1 |
7-21583094-G-C |
c.231G>C |
p.W77C |
Missense |
1/82 |
- |
1 |
7-21583094-G-T |
c.231G>T |
p.W77C |
Missense |
1/82 |
- |
1 |
7-21583098-C-T |
c.235C>T |
p.Q79* |
Nonsense |
1/82 |
- |
1 |
7-21583102-A-G |
c.239A>G |
p.Y80C |
Missense |
1/82 |
- |
1 |
7-21583103-T-G |
c.240T>G |
p.Y80* |
Nonsense |
1/82 |
- |
1 |
7-21583109-A-G |
c.246A>G |
p.E82= |
Synonymous |
1/82 |
- |
1 |
7-21583111-G-T |
c.248G>T |
p.S83I |
Missense |
1/82 |
- |
1 |
7-21583113-G-A |
c.250G>A |
p.E84K |
Missense |
1/82 |
- |
1 |
7-21583113-G-T |
c.250G>T |
p.E84* |
Nonsense |
1/82 |
- |
1 |
7-21583117-A-G |
c.254A>G |
p.D85G |
Missense |
1/82 |
- |
1 |
7-21583118-C-T |
c.255C>T |
p.D85= |
Synonymous |
1/82 |
- |
1 |
7-21583122-C-A |
c.259C>A |
p.R87= |
Synonymous |
1/82 |
- |
1 |
7-21583122-CGG-TGT |
c.259_261delinsTGT |
p.R87C |
Missense |
1/82 |
- |
1 |
7-21583126-A-G |
c.263A>G |
p.Q88R |
Missense |
1/82 |
- |
1 |
7-21583126-A-T |
c.263A>T |
p.Q88L |
Missense |
1/82 |
- |
1 |
7-21583126-CAGG-C |
c.263_265del |
p.Q88_V89delinsL |
MultiAAMissense |
1/82 |
- |
1 |
7-21583127-G-C |
c.264G>C |
p.Q88H |
Missense |
1/82 |
- |
1 |
7-21583127-G-T |
c.264G>T |
p.Q88H |
Missense |
1/82 |
- |
2 |
7-21583131-C-A |
c.268C>A |
p.L90I |
Missense |
1/82 |
- |
2 |
7-21583133-T-A |
c.270T>A |
p.L90= |
Synonymous |
1/82 |
- |
1 |
7-21583133-T-C |
c.270T>C |
p.L90= |
Synonymous |
1/82 |
- |
1 |
7-21583133-T-G |
c.270T>G |
p.L90= |
Synonymous |
1/82 |
- |
1 |
7-21583134-G-A |
c.271G>A |
p.G91R |
Missense |
1/82 |
- |
2 |
7-21583134-GGG-AGC |
c.271_273delinsAGC |
p.G91S |
Missense |
1/82 |
- |
1 |
7-21583135-G-A |
c.272G>A |
p.G91E |
Missense |
1/82 |
- |
1 |
7-21583135-G-T |
c.272G>T |
p.G91V |
Missense |
1/82 |
- |
1 |
7-21583136-G-A |
c.273G>A |
p.G91= |
Synonymous |
1/82 |
- |
1 |
7-21583136-G-C |
c.273G>C |
p.G91= |
Synonymous |
1/82 |
- |
1 |
7-21583136-G-T |
c.273G>T |
p.G91= |
Synonymous |
1/82 |
- |
1 |
7-21583137-G-A |
c.274G>A |
p.E92K |
Missense |
1/82 |
- |
1 |
7-21583137-G-C |
c.274G>C |
p.E92Q |
Missense |
1/82 |
- |
2 |
7-21583143-C-T |
c.280C>T |
p.L94= |
Synonymous |
1/82 |
- |
2 |
7-21583143-CT-TA |
c.280_281delinsTA |
p.L94* |
Nonsense |
1/82 |
- |
1 |
7-21583145-G-T |
c.282G>T |
p.L94= |
Synonymous |
1/82 |
- |
1 |
7-21583146-G-A |
c.283G>A |
p.E95K |
Missense |
1/82 |
- |
2 |
7-21583148-A-G |
c.285A>G |
p.E95= |
Synonymous |
1/82 |
- |
1 |
7-21583149-A-G |
c.286A>G |
p.S96G |
Missense |
1/82 |
- |
2 |
7-21583150-G-T |
c.287G>T |
p.S96I |
Missense |
1/82 |
- |
2 |
7-21583151-C-T |
c.288C>T |
p.S96= |
Synonymous |
1/82 |
- |
1 |
7-21583152-A-T |
c.289A>T |
p.T97S |
Missense |
1/82 |
- |
1 |
7-21583153-C-A |
c.290C>A |
p.T97N |
Missense |
1/82 |
- |
2 |
7-21583153-C-T |
c.290C>T |
p.T97I |
Missense |
1/82 |
- |
4 |
7-21583154-C-A |
c.291C>A |
p.T97= |
Synonymous |
1/82 |
- |
1 |
7-21583154-C-G |
c.291C>G |
p.T97= |
Synonymous |
1/82 |
- |
1 |
7-21583154-C-T |
c.291C>T |
p.T97= |
Synonymous |
1/82 |
- |
1 |
7-21583155-AG-CC |
c.292_293delinsCC |
p.S98P |
Missense |
1/82 |
- |
1 |
7-21583158-C-T |
c.295C>T |
p.P99S |
Missense |
1/82 |
- |
1 |
7-21583165-TGCC-T |
c.302_304del |
p.C101_L102delinsF |
MultiAAMissense |
1/82 |
- |
1 |
7-21583168-T-C |
c.305T>C |
p.L102P |
Missense |
1/82 |
- |
1 |
7-21583170-G-A |
c.307G>A |
p.V103M |
Missense |
1/82 |
- |
1 |
7-21583170-G-T |
c.307G>T |
p.V103L |
Missense |
1/82 |
- |
1 |
7-21583170-GTG-TTT |
c.307_309delinsTTT |
p.V103F |
Missense |
1/82 |
- |
1 |
7-21583171-T-A |
c.308T>A |
p.V103E |
Missense |
1/82 |
- |
1 |
7-21583173-T-C |
c.310T>C |
p.F104L |
Missense |
1/82 |
- |
1 |
7-21583176-A-G |
c.313A>G |
p.S105G |
Missense |
1/82 |
- |
1 |
7-21583176-AG-CT |
c.313_314inv |
p.S105L |
Missense |
1/82 |
- |
1 |
7-21583176-AG-TT |
c.313_314delinsTT |
p.S105F |
Missense |
1/82 |
- |
1 |
7-21583176-A-T |
c.313A>T |
p.S105C |
Missense |
1/82 |
- |
1 |
7-21583177-G-T |
c.314G>T |
p.S105I |
Missense |
1/82 |
- |
1 |
7-21583181-C-T |
c.318C>T |
p.F106= |
Synonymous |
1/82 |
- |
1 |
7-21583182-G-A |
c.319G>A |
p.A107T |
Missense |
1/82 |
- |
1 |
7-21583182-G-T |
c.319G>T |
p.A107S |
Missense |
1/82 |
- |
1 |
7-21583183-C-G |
c.320C>G |
p.A107G |
Missense |
1/82 |
- |
2 |
7-21583183-C-T |
c.320C>T |
p.A107V |
Missense |
1/82 |
- |
1 |
7-21583184-C-A |
c.321C>A |
p.A107= |
Synonymous |
1/82 |
- |
2 |
7-21583184-C-G |
c.321C>G |
p.A107= |
Synonymous |
1/82 |
- |
1 |
7-21583184-C-T |
c.321C>T |
p.A107= |
Synonymous |
1/82 |
- |
2 |
7-21583188-T-A |
c.325T>A |
p.S109T |
Missense |
1/82 |
- |
1 |
7-21583189-C-T |
c.326C>T |
p.S109L |
Missense |
1/82 |
- |
1 |
7-21583190-G-A |
c.327G>A |
p.S109= |
Synonymous |
1/82 |
- |
1 |
7-21583191-G-A |
c.328G>A |
p.G110R |
Missense |
1/82 |
- |
1 |
7-21583191-G-C |
c.328G>C |
p.G110R |
Missense |
1/82 |
- |
1 |
7-21583193-G-A |
c.330G>A |
p.G110= |
Synonymous |
1/82 |
- |
2 |
7-21583193-G-C |
c.330G>C |
p.G110= |
Synonymous |
1/82 |
- |
1 |
7-21583193-G-T |
c.330G>T |
p.G110= |
Synonymous |
1/82 |
- |
1 |
7-21583194-C-A |
c.331C>A |
p.R111S |
Missense |
1/82 |
- |
2 |
7-21583194-CGC-AAG |
c.331_333delinsAAG |
p.R111K |
Missense |
1/82 |
- |
1 |
7-21583194-C-T |
c.331C>T |
p.R111C |
Missense |
1/82 |
- |
3 |
7-21583196-C-A |
c.333C>A |
p.R111= |
Synonymous |
1/82 |
- |
1 |
7-21583196-C-G |
c.333C>G |
p.R111= |
Synonymous |
1/82 |
- |
1 |
7-21583196-C-T |
c.333C>T |
p.R111= |
Synonymous |
1/82 |
- |
1 |
7-21583197-C-T |
c.334C>T |
p.L112F |
Missense |
1/82 |
- |
1 |
7-21583197-CT-TC |
c.334_335delinsTC |
p.L112S |
Missense |
1/82 |
- |
1 |
7-21583198-T-C |
c.335T>C |
p.L112P |
Missense |
1/82 |
- |
1 |
7-21583201-C-A |
c.338C>A |
p.A113E |
Missense |
1/82 |
- |
1 |
7-21583201-C-T |
c.338C>T |
p.A113V |
Missense |
1/82 |
- |
3 |
7-21583203-G-T |
c.340G>T |
p.A114S |
Missense |
1/82 |
- |
2 |
7-21583204-C-T |
c.341C>T |
p.A114V |
Missense |
1/82 |
- |
1 |
7-21583209-C-G |
c.346C>G |
p.Q116E |
Missense |
1/82 |
- |
1 |
7-21583209-C-T |
c.346C>T |
p.Q116* |
Nonsense |
1/82 |
- |
2 |
7-21583212-G-A |
c.349G>A |
p.E117K |
Missense |
1/82 |
- |
2 |
7-21583212-G-T |
c.349G>T |
p.E117* |
Nonsense |
1/82 |
- |
2 |
7-21583213-A-T |
c.350A>T |
p.E117V |
Missense |
1/82 |
- |
3 |
7-21583214-G-C |
c.351G>C |
p.E117D |
Missense |
1/82 |
- |
1 |
7-21583214-G-T |
c.351G>T |
p.E117D |
Missense |
1/82 |
- |
1 |
7-21583257-T-C |
c.351+43T>C |
- |
IntronicSNV |
- |
1/81 |
1 |
7-21583282-T-G |
c.351+68T>G |
- |
IntronicSNV |
- |
1/81 |
6 |
7-21583329-T-C |
c.351+115T>C |
- |
IntronicSNV |
- |
1/81 |
1 |
7-21584088-G-A |
c.352-536G>A |
- |
IntronicSNV |
- |
1/81 |
19 |
7-21584243-G-A |
c.352-381G>A |
- |
IntronicSNV |
- |
1/81 |
1 |
7-21584243-G-T |
c.352-381G>T |
- |
IntronicSNV |
- |
1/81 |
1 |
7-21584624-A-G |
c.352A>G |
p.I118V |
Missense |
2/82 |
- |
2 |
7-21584624-GATTCCAAGAGATGCAAACCATAAA-G |
c.352_375del |
p.I118_K125del |
SpliceAcceptorDeletion |
2/82 |
- |
1 |
7-21584625-T-C |
c.353T>C |
p.I118T |
Missense |
2/82 |
- |
1 |
7-21584626-T-G |
c.354T>G |
p.I118M |
Missense |
2/82 |
- |
1 |
7-21584627-C-T |
c.355C>T |
p.P119S |
Missense |
2/82 |
- |
2 |
7-21584629-A-C |
c.357A>C |
p.P119= |
Synonymous |
2/82 |
- |
1 |
7-21584629-A-G |
c.357A>G |
p.P119= |
Synonymous |
2/82 |
- |
1 |
7-21584629-A-T |
c.357A>T |
p.P119= |
Synonymous |
2/82 |
- |
1 |
7-21584631-G-C |
c.359G>C |
p.R120T |
Missense |
2/82 |
- |
1 |
7-21584633-G-T |
c.361G>T |
p.D121Y |
Missense |
2/82 |
- |
1 |
7-21584636-G-C |
c.364G>C |
p.A122P |
Missense |
2/82 |
- |
1 |
7-21584637-C-A |
c.365C>A |
p.A122E |
Missense |
2/82 |
- |
2 |
7-21584637-C-T |
c.365C>T |
p.A122V |
Missense |
2/82 |
- |
2 |
7-21584643-A-AT |
c.372dup |
p.K125* |
Nonsense |
2/82 |
- |
1 |
7-21584647-A-T |
c.375A>T |
p.K125N |
Missense |
2/82 |
- |
1 |
7-21584649-TT-AA |
c.377_378inv |
p.L126Q |
Missense |
2/82 |
- |
1 |
7-21584657-A-G |
c.385A>G |
p.I129V |
Missense |
2/82 |
- |
1 |
7-21584660-T-C |
c.388T>C |
p.S130P |
Missense |
2/82 |
- |
1 |
7-21584661-C-T |
c.389C>T |
p.S130F |
Missense |
2/82 |
- |
3 |
7-21584664-A-C |
c.392A>C |
p.K131T |
Missense |
2/82 |
- |
1 |
7-21584665-G-A |
c.393G>A |
p.K131= |
Synonymous |
2/82 |
- |
1 |
7-21584665-G-C |
c.393G>C |
p.K131N |
Missense |
2/82 |
- |
1 |
7-21584665-G-GT |
c.393_394insT |
p.K132* |
Nonsense |
2/82 |
- |
1 |
7-21584665-G-T |
c.393G>T |
p.K131N |
Missense |
2/82 |
- |
1 |
7-21584666-A-T |
c.394A>T |
p.K132* |
Nonsense |
2/82 |
- |
1 |
7-21584662-CAAG-C |
c.395_397del |
p.K132del |
InFrameDeletion |
2/82 |
- |
1 |
7-21584667-A-G |
c.395A>G |
p.K132R |
Missense |
2/82 |
- |
3 |
7-21584668-G-C |
c.396G>C |
p.K132N |
Missense |
2/82 |
- |
1 |
7-21584670-TT-AG |
c.398_399delinsAG |
p.I133K |
Missense |
2/82 |
- |
1 |
7-21584675-G-T |
c.403G>T |
p.E135* |
Nonsense |
2/82 |
- |
1 |
7-21584678-A-T |
c.406A>T |
p.S136C |
Missense |
2/82 |
- |
1 |
7-21584679-G-A |
c.407G>A |
p.S136N |
Missense |
2/82 |
- |
2 |
7-21584680-C-G |
c.408C>G |
p.S136R |
Missense |
2/82 |
- |
1 |
7-21584682-T-C |
c.410T>C |
p.I137T |
Missense |
2/82 |
- |
1 |
7-21584684-G-T |
c.412G>T |
p.G138* |
Nonsense |
2/82 |
- |
1 |
7-21584685-G-A |
c.413G>A |
p.G138E |
Missense |
2/82 |
- |
2 |
7-21584685-GA-AC |
c.413_414delinsAC |
p.G138D |
Missense |
2/82 |
- |
1 |
7-21584687-AGTAAATGAC-A |
c.415_423del |
p.V139_D141del |
InFrameDeletion |
2/82 |
- |
1 |
7-21584687-G-A |
c.415G>A |
p.V139I |
Missense |
2/82 |
- |
2 |
7-21584687-G-C |
c.415G>C |
p.V139L |
Missense |
2/82 |
- |
1 |
7-21584689-A-T |
c.417A>T |
p.V139= |
Synonymous |
2/82 |
- |
1 |
7-21584691-A-G |
c.419A>G |
p.N140S |
Missense |
2/82 |
- |
1 |
7-21584692-T-C |
c.420T>C |
p.N140= |
Synonymous |
2/82 |
- |
2 |
7-21584693-G-C |
c.421G>C |
p.D141H |
Missense |
2/82 |
- |
1 |
7-21584693-G-T |
c.421G>T |
p.D141Y |
Missense |
2/82 |
- |
4 |
7-21584694-A-G |
c.422A>G |
p.D141G |
Missense |
2/82 |
- |
1 |
7-21584696-T-C |
c.424T>C |
p.F142L |
Missense |
2/82 |
- |
2 |
7-21584698-T-A |
c.426T>A |
p.F142L |
Missense |
2/82 |
- |
2 |
7-21584698-T-G |
c.426T>G |
p.F142L |
Missense |
2/82 |
- |
2 |
7-21584697-T-A |
c.425T>A |
p.F142Y |
Missense |
2/82 |
- |
2 |
7-21584699-TTCTC-T |
c.427_430del |
p.S143Kfs*24 |
Frameshift |
2/82 |
- |
1 |
7-21584702-C-A |
c.430C>A |
p.Q144K |
Missense |
2/82 |
- |
1 |
7-21584704-AAGT-A |
c.432_434del |
p.V146del |
InFrameDeletion |
2/82 |
- |
1 |
7-21584706-T-A |
c.434T>A |
p.V145E |
Missense |
2/82 |
- |
1 |
7-21584706-T-C |
c.434T>C |
p.V145A |
Missense |
2/82 |
- |
1 |
7-21584707-G-A |
c.435G>A |
p.V145= |
Synonymous |
2/82 |
- |
1 |
7-21584707-G-C |
c.435G>C |
p.V145= |
Synonymous |
2/82 |
- |
1 |
7-21584707-G-T |
c.435G>T |
p.V145= |
Synonymous |
2/82 |
- |
1 |
7-21584708-G-T |
c.436G>T |
p.V146F |
Missense |
2/82 |
- |
1 |
7-21584713-A-C |
c.441A>C |
p.L147F |
Missense |
2/82 |
- |
1 |
7-21584713-A-T |
c.441A>T |
p.L147F |
Missense |
2/82 |
- |
1 |
7-21584716-T-C |
c.444T>C |
p.F148= |
Synonymous |
2/82 |
- |
1 |
7-21584716-T-G |
c.444T>G |
p.F148L |
Missense |
2/82 |
- |
1 |
7-21584717-G-A |
c.445G>A |
p.G149R |
Missense |
2/82 |
- |
1 |
7-21584718-G-A |
c.446G>A |
p.G149E |
Missense |
2/82 |
- |
1 |
7-21584718-GA-AC |
c.446_447delinsAC |
p.G149D |
Missense |
2/82 |
- |
1 |
7-21584718-G-T |
c.446G>T |
p.G149V |
Missense |
2/82 |
- |
1 |
7-21584720-G-A |
c.448G>A |
p.E150K |
Missense |
2/82 |
- |
1 |
7-21584722-G-C |
c.450G>C |
p.E150D |
Missense |
2/82 |
- |
1 |
7-21584723-T-C |
c.451T>C |
p.L151= |
Synonymous |
2/82 |
- |
1 |
7-21584725-A-G |
c.453A>G |
p.L151= |
Synonymous |
2/82 |
- |
1 |
7-21584724-T-A |
c.452T>A |
p.L151* |
Nonsense |
2/82 |
- |
1 |
7-21584727-C-G |
c.455C>G |
p.P152R |
Missense |
2/82 |
- |
2 |
7-21584729-G-T |
c.457G>T |
p.A153S |
Missense |
2/82 |
- |
2 |
7-21584730-C-T |
c.458C>T |
p.A153V |
Missense |
2/82 |
- |
1 |
7-21584731-G-A |
c.459G>A |
p.A153= |
Synonymous |
2/82 |
- |
1 |
7-21584732-T-C |
c.460T>C |
p.L154= |
Synonymous |
2/82 |
- |
1 |
7-21584734-G-A |
c.462G>A |
p.L154= |
Synonymous |
2/82 |
- |
1 |
7-21584736-C-A |
c.464C>A |
p.S155Y |
Missense |
2/82 |
- |
1 |
7-21584737-T-A |
c.465T>A |
p.S155= |
Synonymous |
2/82 |
- |
2 |
7-21584737-T-C |
c.465T>C |
p.S155= |
Synonymous |
2/82 |
- |
3 |
7-21584737-T-G |
c.465T>G |
p.S155= |
Synonymous |
2/82 |
- |
2 |
7-21584740-TG-T |
c.470del |
p.G157Dfs*11 |
Frameshift |
2/82 |
- |
1 |
7-21584744-C-A |
c.472C>A |
p.H158N |
Missense |
2/82 |
- |
1 |
7-21584746-T-A |
c.474T>A |
p.H158Q |
Missense |
2/82 |
- |
2 |
7-21584746-T-C |
c.474T>C |
p.H158= |
Synonymous |
2/82 |
- |
1 |
7-21584746-T-G |
c.474T>G |
p.H158Q |
Missense |
2/82 |
- |
1 |
7-21584747-G-A |
c.475G>A |
p.V159I |
Missense |
2/82 |
- |
1 |
7-21584750-ATCT-A |
c.478_480del |
p.S160del |
InFrameDeletion |
2/82 |
- |
1 |
7-21584750-T-C |
c.478T>C |
p.S160P |
Missense |
2/82 |
- |
2 |
7-21584751-C-T |
c.479C>T |
p.S160F |
Missense |
2/82 |
- |
1 |
7-21584753-G-T |
c.481G>T |
p.A161S |
Missense |
2/82 |
- |
1 |
7-21584758-C-T |
c.486C>T |
p.F162= |
Synonymous |
2/82 |
- |
1 |
7-21584761-T-G |
c.489T>G |
p.L163= |
Synonymous |
2/82 |
- |
1 |
7-21584762-G-A |
c.490G>A |
p.D164N |
Missense |
2/82 |
- |
3 |
7-21584762-G-T |
c.490G>T |
p.D164Y |
Missense |
2/82 |
- |
1 |
7-21584767-G-C |
c.495G>C |
p.E165D |
Missense |
2/82 |
- |
1 |
7-21584767-G-T |
c.495G>T |
p.E165D |
Missense |
2/82 |
- |
1 |
7-21584768-G-T |
c.495+1G>T |
- |
IntronicSNV |
- |
2/81 |
1 |
7-21584769-T-C |
c.495+2T>C |
- |
IntronicSNV |
- |
2/81 |
1 |
7-21584820-A-G |
c.495+53A>G |
- |
IntronicSNV |
- |
2/81 |
4 |
7-21584888-T-G |
c.495+121T>G |
- |
IntronicSNV |
- |
2/81 |
1 |
7-21584892-T-A |
c.495+125T>A |
- |
IntronicSNV |
- |
2/81 |
2 |
7-21585091-T-C |
c.495+324T>C |
- |
IntronicSNV |
- |
2/81 |
2 |
7-21586595-C-T |
c.495+1828C>T |
- |
IntronicSNV |
- |
2/81 |
1 |
7-21588216-T-C |
c.495+3449T>C |
- |
IntronicSNV |
- |
2/81 |
1 |
7-21589243-A-C |
c.495+4476A>C |
- |
IntronicSNV |
- |
2/81 |
1 |
7-21589243-A-G |
c.495+4476A>G |
- |
IntronicSNV |
- |
2/81 |
1 |
7-21589903-C-G |
c.495+5136C>G |
- |
IntronicSNV |
- |
2/81 |
1 |
7-21589903-C-T |
c.495+5136C>T |
- |
IntronicSNV |
- |
2/81 |
1 |
7-21590105-G-C |
c.495+5338G>C |
- |
IntronicSNV |
- |
2/81 |
1 |
7-21590105-G-T |
c.495+5338G>T |
- |
IntronicSNV |
- |
2/81 |
1 |
7-21590136-T-C |
c.495+5369T>C |
- |
IntronicSNV |
- |
2/81 |
1 |
7-21591664-G-A |
c.496-6756G>A |
- |
IntronicSNV |
- |
2/81 |
1 |
7-21592973-A-G |
c.496-5447A>G |
- |
IntronicSNV |
- |
2/81 |
1 |
7-21593529-A-ATT |
c.496-4883_496-4882dup |
- |
IntronicInsertion |
- |
2/81 |
1 |
7-21593529-A-AT |
c.496-4882dup |
- |
IntronicInsertion |
- |
2/81 |
1 |
7-21596876-G-C |
c.496-1544G>C |
- |
IntronicSNV |
- |
2/81 |
1 |
7-21596876-G-T |
c.496-1544G>T |
- |
IntronicSNV |
- |
2/81 |
1 |
7-21598254-T-C |
c.496-166T>C |
- |
IntronicSNV |
- |
2/81 |
1 |
7-21598312-G-GGAT |
c.496-107_496-105dup |
- |
IntronicInsertion |
- |
2/81 |
1 |
7-21598313-G-GGAT |
c.496-107_496-106insGAT |
- |
IntronicInsertion |
- |
2/81 |
1 |
7-21598420-A-G |
c.496A>G |
p.I166V |
Missense |
3/82 |
- |
1 |
7-21598421-T-C |
c.497T>C |
p.I166T |
Missense |
3/82 |
- |
1 |
7-21598422-T-A |
c.498T>A |
p.I166= |
Synonymous |
3/82 |
- |
1 |
7-21598422-T-C |
c.498T>C |
p.I166= |
Synonymous |
3/82 |
- |
1 |
7-21598423-T-C |
c.499T>C |
p.L167= |
Synonymous |
3/82 |
- |
1 |
7-21598423-TTTA-T |
c.499_501del |
p.L167del |
InFrameDeletion |
3/82 |
- |
1 |
7-21598425-A-G |
c.501A>G |
p.L167= |
Synonymous |
3/82 |
- |
1 |
7-21598425-A-C |
c.501A>C |
p.L167F |
Missense |
3/82 |
- |
1 |
7-21598426-G-A |
c.502G>A |
p.V168M |
Missense |
3/82 |
- |
2 |
7-21598427-T-C |
c.503T>C |
p.V168A |
Missense |
3/82 |
- |
2 |
7-21598429-C-T |
c.505C>T |
p.P169S |
Missense |
3/82 |
- |
1 |
7-21598432-AG-A |
c.508del |
p.V170Ffs*23 |
Frameshift |
3/82 |
- |
1 |
7-21598432-G-A |
c.508G>A |
p.V170I |
Missense |
3/82 |
- |
3 |
7-21598437-T-A |
c.513T>A |
p.L171= |
Synonymous |
3/82 |
- |
1 |
7-21598437-T-C |
c.513T>C |
p.L171= |
Synonymous |
3/82 |
- |
1 |
7-21598437-T-G |
c.513T>G |
p.L171= |
Synonymous |
3/82 |
- |
1 |
7-21598438-TC-CT |
c.514_515delinsCT |
p.S172L |
Missense |
3/82 |
- |
1 |
7-21598439-C-T |
c.515C>T |
p.S172F |
Missense |
3/82 |
- |
1 |
7-21598444-A-T |
c.520A>T |
p.K174* |
Nonsense |
3/82 |
- |
1 |
7-21598445-A-G |
c.521A>G |
p.K174R |
Missense |
3/82 |
- |
1 |
7-21598446-G-A |
c.522G>A |
p.K174= |
Synonymous |
3/82 |
- |
1 |
7-21598449-C-T |
c.525C>T |
p.N175= |
Synonymous |
3/82 |
- |
1 |
7-21598453-C-A |
c.529C>A |
p.H177N |
Missense |
3/82 |
- |
1 |
7-21598456-A-G |
c.532A>G |
p.K178E |
Missense |
3/82 |
- |
1 |
7-21598457-A-T |
c.533A>T |
p.K178M |
Missense |
3/82 |
- |
1 |
7-21598459-T-C |
c.535T>C |
p.S179P |
Missense |
3/82 |
- |
1 |
7-21598460-C-A |
c.536C>A |
p.S179Y |
Missense |
3/82 |
- |
1 |
7-21598460-C-T |
c.536C>T |
p.S179F |
Missense |
3/82 |
- |
1 |
7-21598463-G-A |
c.539G>A |
p.W180* |
Nonsense |
3/82 |
- |
1 |
7-21598465-T-C |
c.541T>C |
p.S181P |
Missense |
3/82 |
- |
1 |
7-21598468-T-C |
c.544T>C |
p.C182R |
Missense |
3/82 |
- |
1 |
7-21598471-T-C |
c.547T>C |
p.F183L |
Missense |
3/82 |
- |
1 |
7-21598473-T-A |
c.549T>A |
p.F183L |
Missense |
3/82 |
- |
1 |
7-21598473-T-G |
c.549T>G |
p.F183L |
Missense |
3/82 |
- |
1 |
7-21598476-T-A |
c.552T>A |
p.T184= |
Synonymous |
3/82 |
- |
1 |
7-21598476-T-C |
c.552T>C |
p.T184= |
Synonymous |
3/82 |
- |
1 |
7-21598476-T-G |
c.552T>G |
p.T184= |
Synonymous |
3/82 |
- |
1 |
7-21598478-C-T |
c.554C>T |
p.S185L |
Missense |
3/82 |
- |
1 |
7-21598479-A-G |
c.555A>G |
p.S185= |
Synonymous |
3/82 |
- |
1 |
7-21598480-C-T |
c.556C>T |
p.Q186* |
Nonsense |
3/82 |
- |
1 |
7-21598482-A-C |
c.558A>C |
p.Q186H |
Missense |
3/82 |
- |
3 |
7-21598482-A-T |
c.558A>T |
p.Q186H |
Missense |
3/82 |
- |
4 |
7-21598483-G-C |
c.559G>C |
p.D187H |
Missense |
3/82 |
- |
1 |
7-21598486-A-G |
c.562A>G |
p.M188V |
Missense |
3/82 |
- |
1 |
7-21598489-G-A |
c.565G>A |
p.E189K |
Missense |
3/82 |
- |
4 |
7-21598489-G-T |
c.565G>T |
p.E189* |
Nonsense |
3/82 |
- |
2 |
7-21598494-T-TC |
c.571dup |
p.H191Pfs*13 |
Frameshift |
3/82 |
- |
1 |
7-21598495-C-G |
c.571C>G |
p.H191D |
Missense |
3/82 |
- |
1 |
7-21598495-C-T |
c.571C>T |
p.H191Y |
Missense |
3/82 |
- |
2 |
7-21598496-A-G |
c.572A>G |
p.H191R |
Missense |
3/82 |
- |
1 |
7-21598497-AC-A |
c.573del |
p.H191Qfs*2 |
Frameshift |
3/82 |
- |
1 |
7-21598497-C-A |
c.573C>A |
p.H191Q |
Missense |
3/82 |
- |
1 |
7-21598498-A-G |
c.574A>G |
p.I192V |
Missense |
3/82 |
- |
2 |
7-21598499-T-C |
c.575T>C |
p.I192T |
Missense |
3/82 |
- |
1 |
7-21598500-A-C |
c.576A>C |
p.I192= |
Synonymous |
3/82 |
- |
3 |
7-21598500-A-G |
c.576A>G |
p.I192M |
Missense |
3/82 |
- |
12 |
7-21598500-A-T |
c.576A>T |
p.I192= |
Synonymous |
3/82 |
- |
2 |
7-21598503-A-C |
c.579A>C |
p.E193D |
Missense |
3/82 |
- |
2 |
7-21598503-A-T |
c.579A>T |
p.E193D |
Missense |
3/82 |
- |
1 |
7-21598507-A-G |
c.583A>G |
p.M195V |
Missense |
3/82 |
- |
2 |
7-21598510-A-C |
c.586A>C |
p.K196Q |
Missense |
3/82 |
- |
1 |
7-21598509-GAAA-G |
c.588_590del |
p.K198del |
InFrameDeletion |
3/82 |
- |
1 |
7-21598514-A-C |
c.590A>C |
p.K197T |
Missense |
3/82 |
- |
1 |
7-21598515-G-A |
c.591G>A |
p.K197= |
Synonymous |
3/82 |
- |
1 |
7-21598516-A-G |
c.592A>G |
p.K198E |
Missense |
3/82 |
- |
1 |
7-21598512-AAAG-A |
c.593_595del |
p.K198del |
InFrameDeletion |
3/82 |
- |
1 |
7-21598521-G-A |
c.597G>A |
p.M199I |
Missense |
3/82 |
- |
1 |
7-21598521-G-C |
c.597G>C |
p.M199I |
Missense |
3/82 |
- |
1 |
7-21598521-G-T |
c.597G>T |
p.M199I |
Missense |
3/82 |
- |
1 |
7-21598522-T-C |
c.598T>C |
p.Y200H |
Missense |
3/82 |
- |
4 |
7-21598523-A-G |
c.599A>G |
p.Y200C |
Missense |
3/82 |
- |
1 |
7-21598524-T-A |
c.600T>A |
p.Y200* |
Nonsense |
3/82 |
- |
1 |
7-21598524-T-G |
c.600T>G |
p.Y200* |
Nonsense |
3/82 |
- |
1 |
7-21598526-T-C |
c.602T>C |
p.I201T |
Missense |
3/82 |
- |
1 |
7-21598530-T-C |
c.606T>C |
p.F202= |
Synonymous |
3/82 |
- |
1 |
7-21598531-A-G |
c.607A>G |
p.R203G |
Missense |
3/82 |
- |
1 |
7-21598531-AG-CT |
c.607_608inv |
p.R203L |
Missense |
3/82 |
- |
1 |
7-21598531-AG-TA |
c.607_608delinsTA |
p.R203* |
Nonsense |
3/82 |
- |
1 |
7-21598533-G-C |
c.609G>C |
p.R203S |
Missense |
3/82 |
- |
1 |
7-21598533-G-T |
c.609G>T |
p.R203S |
Missense |
3/82 |
- |
1 |
7-21598534-G-C |
c.610G>C |
p.G204R |
Missense |
3/82 |
- |
1 |
7-21598535-G-A |
c.611G>A |
p.G204D |
Missense |
3/82 |
- |
1 |
7-21598535-G-T |
c.611G>T |
p.G204V |
Missense |
3/82 |
- |
1 |
7-21598537-A-G |
c.613A>G |
p.K205E |
Missense |
3/82 |
- |
5 |
7-21598539-A-G |
c.615A>G |
p.K205= |
Synonymous |
3/82 |
- |
1 |
7-21598539-A-T |
c.615A>T |
p.K205N |
Missense |
3/82 |
- |
1 |
7-21598542-G-A |
c.618G>A |
p.M206I |
Missense |
3/82 |
- |
2 |
7-21598542-G-C |
c.618G>C |
p.M206I |
Missense |
3/82 |
- |
2 |
7-21598542-G-T |
c.618G>T |
p.M206I |
Missense |
3/82 |
- |
2 |
7-21598544-C-G |
c.620C>G |
p.S207C |
Missense |
3/82 |
- |
1 |
7-21598544-C-T |
c.620C>T |
p.S207F |
Missense |
3/82 |
- |
2 |
7-21598546-AG-CA |
c.622_623delinsCA |
p.R208Q |
Missense |
3/82 |
- |
1 |
7-21598547-G-T |
c.623G>T |
p.R208I |
Missense |
3/82 |
- |
1 |
7-21598549-AGA-TGT |
c.625_627delinsTGT |
p.R209C |
Missense |
3/82 |
- |
1 |
7-21598549-A-T |
c.625A>T |
p.R209* |
Nonsense |
3/82 |
- |
1 |
7-21598550-G-C |
c.626G>C |
p.R209T |
Missense |
3/82 |
- |
1 |
7-21598550-G-T |
c.626G>T |
p.R209I |
Missense |
3/82 |
- |
4 |
7-21598553-C-A |
c.629C>A |
p.T210N |
Missense |
3/82 |
- |
1 |
7-21598553-C-G |
c.629C>G |
p.T210S |
Missense |
3/82 |
- |
1 |
7-21598553-C-T |
c.629C>T |
p.T210I |
Missense |
3/82 |
- |
1 |
7-21598554-T-G |
c.630T>G |
p.T210= |
Synonymous |
3/82 |
- |
1 |
7-21598555-C-G |
c.631C>G |
p.L211V |
Missense |
3/82 |
- |
1 |
7-21598555-C-T |
c.631C>T |
p.L211F |
Missense |
3/82 |
- |
2 |
7-21598557-T-A |
c.633T>A |
p.L211= |
Synonymous |
3/82 |
- |
1 |
7-21598557-T-C |
c.633T>C |
p.L211= |
Synonymous |
3/82 |
- |
1 |
7-21598557-T-G |
c.633T>G |
p.L211= |
Synonymous |
3/82 |
- |
1 |
7-21598558-TC-T |
c.634del |
p.L212Yfs*27 |
Frameshift |
3/82 |
- |
1 |
7-21598558-C-T |
c.634C>T |
p.L212= |
Synonymous |
3/82 |
- |
1 |
7-21598560-A-C |
c.636A>C |
p.L212= |
Synonymous |
3/82 |
- |
1 |
7-21598560-A-G |
c.636A>G |
p.L212= |
Synonymous |
3/82 |
- |
1 |
7-21598560-A-T |
c.636A>T |
p.L212= |
Synonymous |
3/82 |
- |
1 |
7-21598561-C-A |
c.637C>A |
p.P213T |
Missense |
3/82 |
- |
1 |
7-21598561-C-T |
c.637C>T |
p.P213S |
Missense |
3/82 |
- |
1 |
7-21598562-C-A |
c.638C>A |
p.P213Q |
Missense |
3/82 |
- |
2 |
7-21598564-A-G |
c.640A>G |
p.I214V |
Missense |
3/82 |
- |
6 |
7-21598565-T-G |
c.641T>G |
p.I214S |
Missense |
3/82 |
- |
1 |
7-21598566-T-C |
c.642T>C |
p.I214= |
Synonymous |
3/82 |
- |
1 |
7-21598567-C-T |
c.643C>T |
p.P215S |
Missense |
3/82 |
- |
2 |
7-21598568-C-T |
c.644C>T |
p.P215L |
Missense |
3/82 |
- |
2 |
7-21598572-T-A |
c.648T>A |
p.T216= |
Synonymous |
3/82 |
- |
1 |
7-21598572-T-C |
c.648T>C |
p.T216= |
Synonymous |
3/82 |
- |
1 |
7-21598572-T-G |
c.648T>G |
p.T216= |
Synonymous |
3/82 |
- |
1 |
7-21598576-G-C |
c.652G>C |
p.A218P |
Missense |
3/82 |
- |
1 |
7-21598576-G-T |
c.652G>T |
p.A218S |
Missense |
3/82 |
- |
1 |
7-21598580-G-A |
c.656G>A |
p.G219E |
Missense |
3/82 |
- |
2 |
7-21598584-G-A |
c.660G>A |
p.K220= |
Synonymous |
3/82 |
- |
3 |
7-21598584-G-C |
c.660G>C |
p.K220N |
Missense |
3/82 |
- |
1 |
7-21598584-G-T |
c.660G>T |
p.K220N |
Missense |
3/82 |
- |
1 |
7-21598585-A-T |
c.661A>T |
p.M221L |
Missense |
3/82 |
- |
2 |
7-21598586-T-C |
c.662T>C |
p.M221T |
Missense |
3/82 |
- |
1 |
7-21598586-T-G |
c.662T>G |
p.M221R |
Missense |
3/82 |
- |
1 |
7-21598587-G-A |
c.663G>A |
p.M221I |
Missense |
3/82 |
- |
1 |
7-21598588-G-A |
c.664G>A |
p.D222N |
Missense |
3/82 |
- |
1 |
7-21598588-G-T |
c.664G>T |
p.D222Y |
Missense |
3/82 |
- |
3 |
7-21598591-C-G |
c.667C>G |
p.L223V |
Missense |
3/82 |
- |
1 |
7-21598591-CTG-ATC |
c.667_669delinsATC |
p.L223I |
Missense |
3/82 |
- |
1 |
7-21598594-G-A |
c.670G>A |
p.D224N |
Missense |
3/82 |
- |
1 |
7-21598597-C-G |
c.673C>G |
p.Q225E |
Missense |
3/82 |
- |
1 |
7-21598597-C-T |
c.673C>T |
p.Q225* |
Nonsense |
3/82 |
- |
3 |
7-21598598-A-G |
c.674A>G |
p.Q225R |
Missense |
3/82 |
- |
1 |
7-21598601-A-G |
c.677A>G |
p.N226S |
Missense |
3/82 |
- |
2 |
7-21598604-G-C |
c.680G>C |
p.C227S |
Missense |
3/82 |
- |
1 |
7-21598604-G-A |
c.680G>A |
p.C227Y |
Missense |
3/82 |
- |
1 |
7-21598607-CA-GT |
c.683_684delinsGT |
p.S228C |
Missense |
3/82 |
- |
1 |
7-21598607-CA-TT |
c.683_684delinsTT |
p.S228F |
Missense |
3/82 |
- |
1 |
7-21598607-C-T |
c.683C>T |
p.S228L |
Missense |
3/82 |
- |
1 |
7-21598608-A-C |
c.684A>C |
p.S228= |
Synonymous |
3/82 |
- |
2 |
7-21598608-A-G |
c.684A>G |
p.S228= |
Synonymous |
3/82 |
- |
2 |
7-21598608-A-T |
c.684A>T |
p.S228= |
Synonymous |
3/82 |
- |
3 |
7-21598611-G-A |
c.687G>A |
p.E229= |
Synonymous |
3/82 |
- |
1 |
7-21598611-G-T |
c.687G>T |
p.E229D |
Missense |
3/82 |
- |
1 |
7-21598613-A-T |
c.689A>T |
p.N230I |
Missense |
3/82 |
- |
1 |
7-21598614-C-A |
c.690C>A |
p.N230K |
Missense |
3/82 |
- |
1 |
7-21598614-C-T |
c.690C>T |
p.N230= |
Synonymous |
3/82 |
- |
1 |
7-21598621-G-A |
c.692+5G>A |
- |
IntronicSNV |
- |
3/81 |
1 |
7-21598753-G-C |
c.692+137G>C |
- |
IntronicSNV |
- |
3/81 |
1 |
7-21599222-C-T |
c.694C>T |
p.P232S |
Missense |
4/82 |
- |
3 |
7-21599223-C-T |
c.695C>T |
p.P232L |
Missense |
4/82 |
- |
6 |
7-21599225-C-T |
c.697C>T |
p.P233S |
Missense |
4/82 |
- |
3 |
7-21599226-C-T |
c.698C>T |
p.P233L |
Missense |
4/82 |
- |
2 |
7-21599227-G-A |
c.699G>A |
p.P233= |
Synonymous |
4/82 |
- |
2 |
7-21599227-G-C |
c.699G>C |
p.P233= |
Synonymous |
4/82 |
- |
1 |
7-21599227-G-T |
c.699G>T |
p.P233= |
Synonymous |
4/82 |
- |
1 |
7-21599228-T-C |
c.700T>C |
p.S234P |
Missense |
4/82 |
- |
2 |
7-21599229-C-A |
c.701C>A |
p.S234* |
Nonsense |
4/82 |
- |
1 |
7-21599230-A-C |
c.702A>C |
p.S234= |
Synonymous |
4/82 |
- |
1 |
7-21599230-A-G |
c.702A>G |
p.S234= |
Synonymous |
4/82 |
- |
1 |
7-21599230-A-T |
c.702A>T |
p.S234= |
Synonymous |
4/82 |
- |
1 |
7-21599232-A-G |
c.704A>G |
p.N235S |
Missense |
4/82 |
- |
1 |
7-21599233-C-G |
c.705C>G |
p.N235K |
Missense |
4/82 |
- |
3 |
7-21599233-C-T |
c.705C>T |
p.N235= |
Synonymous |
4/82 |
- |
22 |
7-21599234-G-A |
c.706G>A |
p.E236K |
Missense |
4/82 |
- |
8 |
7-21599234-G-T |
c.706G>T |
p.E236* |
Nonsense |
4/82 |
- |
1 |
7-21599236-A-C |
c.708A>C |
p.E236D |
Missense |
4/82 |
- |
1 |
7-21599236-A-T |
c.708A>T |
p.E236D |
Missense |
4/82 |
- |
1 |
7-21599237-AG-CA |
c.709_710delinsCA |
p.R237Q |
Missense |
4/82 |
- |
1 |
7-21599237-AG-CC |
c.709_710delinsCC |
p.R237P |
Missense |
4/82 |
- |
1 |
7-21599238-AGGATAATACTTC-A |
c.710_721del |
p.R237_H241delinsN |
MultiAAMissense |
4/82 |
- |
1 |
7-21599238-G-A |
c.710G>A |
p.R237K |
Missense |
4/82 |
- |
1 |
7-21599237-A-C |
c.709A>C |
p.R237= |
Synonymous |
4/82 |
- |
1 |
7-21599239-G-A |
c.711G>A |
p.R237= |
Synonymous |
4/82 |
- |
1 |
7-21599241-T-C |
c.713T>C |
p.I238T |
Missense |
4/82 |
- |
1 |
7-21599242-A-C |
c.714A>C |
p.I238= |
Synonymous |
4/82 |
- |
1 |
7-21599242-A-G |
c.714A>G |
p.I238M |
Missense |
4/82 |
- |
1 |
7-21599242-A-T |
c.714A>T |
p.I238= |
Synonymous |
4/82 |
- |
1 |
7-21599246-C-G |
c.718C>G |
p.L240V |
Missense |
4/82 |
- |
1 |
7-21599249-C-T |
c.721C>T |
p.H241Y |
Missense |
4/82 |
- |
1 |
7-21599250-A-G |
c.722A>G |
p.H241R |
Missense |
4/82 |
- |
1 |
7-21599253-C-A |
c.725C>A |
p.A242E |
Missense |
4/82 |
- |
1 |
7-21599253-C-T |
c.725C>T |
p.A242V |
Missense |
4/82 |
- |
3 |
7-21599255-A-G |
c.727A>G |
p.I243V |
Missense |
4/82 |
- |
4 |
7-21599255-A-T |
c.727A>T |
p.I243F |
Missense |
4/82 |
- |
2 |
7-21599257-T-A |
c.729T>A |
p.I243= |
Synonymous |
4/82 |
- |
1 |
7-21599257-T-C |
c.729T>C |
p.I243= |
Synonymous |
4/82 |
- |
1 |
7-21599258-G-T |
c.730G>T |
p.E244* |
Nonsense |
4/82 |
- |
2 |
7-21599261-TC-CT |
c.733_734delinsCT |
p.S245L |
Missense |
4/82 |
- |
1 |
7-21599262-CT-AA |
c.734_735delinsAA |
p.S245* |
Nonsense |
4/82 |
- |
1 |
7-21599264-G-C |
c.736G>C |
p.V246L |
Missense |
4/82 |
- |
2 |
7-21599264-G-T |
c.736G>T |
p.V246L |
Missense |
4/82 |
- |
1 |
7-21599267-G-A |
c.739G>A |
p.V247I |
Missense |
4/82 |
- |
1 |
7-21599270-A-G |
c.742A>G |
p.I248V |
Missense |
4/82 |
- |
1 |
7-21599273-G-A |
c.745G>A |
p.E249K |
Missense |
4/82 |
- |
1 |
7-21599274-A-T |
c.746A>T |
p.E249V |
Missense |
4/82 |
- |
1 |
7-21599276-T-C |
c.748T>C |
p.W250R |
Missense |
4/82 |
- |
1 |
7-21599278-G-A |
c.750G>A |
p.W250* |
Nonsense |
4/82 |
- |
1 |
7-21599279-T-A |
c.751T>A |
p.S251T |
Missense |
4/82 |
- |
1 |
7-21599279-T-C |
c.751T>C |
p.S251P |
Missense |
4/82 |
- |
1 |
7-21599282-C-T |
c.754C>T |
p.H252Y |
Missense |
4/82 |
- |
3 |
7-21599285-C-G |
c.757C>G |
p.Q253E |
Missense |
4/82 |
- |
3 |
7-21599289-TC-AG |
c.761_762delinsAG |
p.I254K |
Missense |
4/82 |
- |
1 |
7-21599290-C-A |
c.762C>A |
p.I254= |
Synonymous |
4/82 |
- |
1 |
7-21599290-C-T |
c.762C>T |
p.I254= |
Synonymous |
4/82 |
- |
3 |
7-21599291-C-T |
c.763C>T |
p.Q255* |
Nonsense |
4/82 |
- |
1 |
7-21599294-G-T |
c.766G>T |
p.E256* |
Nonsense |
4/82 |
- |
2 |
7-21599294-G-GA |
c.769dup |
p.I257Nfs*37 |
Frameshift |
4/82 |
- |
1 |
7-21599297-A-G |
c.769A>G |
p.I257V |
Missense |
4/82 |
- |
1 |
7-21599298-T-C |
c.770T>C |
p.I257T |
Missense |
4/82 |
- |
1 |
7-21599301-TAGA-T |
c.775_777del |
p.E259del |
InFrameDeletion |
4/82 |
- |
1 |
7-21599303-G-T |
c.775G>T |
p.E259* |
Nonsense |
4/82 |
- |
2 |
7-21599306-A-C |
c.778A>C |
p.R260= |
Synonymous |
4/82 |
- |
1 |
7-21599306-AGA-TGT |
c.778_780delinsTGT |
p.R260C |
Missense |
4/82 |
- |
2 |
7-21599307-G-A |
c.779G>A |
p.R260K |
Missense |
4/82 |
- |
1 |
7-21599307-G-C |
c.779G>C |
p.R260T |
Missense |
4/82 |
- |
1 |
7-21599308-A-C |
c.780A>C |
p.R260S |
Missense |
4/82 |
- |
1 |
7-21599308-A-T |
c.780A>T |
p.R260S |
Missense |
4/82 |
- |
1 |
7-21599309-G-T |
c.781G>T |
p.D261Y |
Missense |
4/82 |
- |
1 |
7-21599312-T-A |
c.784T>A |
p.S262T |
Missense |
4/82 |
- |
1 |
7-21599312-T-G |
c.784T>G |
p.S262A |
Missense |
4/82 |
- |
2 |
7-21599313-C-T |
c.785C>T |
p.S262L |
Missense |
4/82 |
- |
1 |
7-21599320-G-T |
c.792G>T |
p.Q264H |
Missense |
4/82 |
- |
1 |
7-21599321-C-G |
c.793C>G |
p.R265G |
Missense |
4/82 |
- |
1 |
7-21599321-C-T |
c.793C>T |
p.R265C |
Missense |
4/82 |
- |
2 |
7-21599322-G-A |
c.794G>A |
p.R265H |
Missense |
4/82 |
- |
1 |
7-21599327-T-C |
c.799T>C |
p.L267= |
Synonymous |
4/82 |
- |
1 |
7-21599333-G-A |
c.805G>A |
p.G269S |
Missense |
4/82 |
- |
1 |
7-21599334-G-A |
c.806G>A |
p.G269D |
Missense |
4/82 |
- |
2 |
7-21599334-G-T |
c.806G>T |
p.G269V |
Missense |
4/82 |
- |
3 |
7-21599335-T-C |
c.807T>C |
p.G269= |
Synonymous |
4/82 |
- |
1 |
7-21599337-T-G |
c.809T>G |
p.L270R |
Missense |
4/82 |
- |
3 |
7-21599339-C-T |
c.811C>T |
p.H271Y |
Missense |
4/82 |
- |
1 |
7-21599342-T-C |
c.814T>C |
p.L272= |
Synonymous |
4/82 |
- |
1 |
7-21599344-G-A |
c.816G>A |
p.L272= |
Synonymous |
4/82 |
- |
1 |
7-21599343-T-C |
c.815T>C |
p.L272S |
Missense |
4/82 |
- |
1 |
7-21599345-T-C |
c.817T>C |
p.S273P |
Missense |
4/82 |
- |
1 |
7-21599348-C-T |
c.820C>T |
p.P274S |
Missense |
4/82 |
- |
1 |
7-21599349-C-T |
c.821C>T |
p.P274L |
Missense |
4/82 |
- |
1 |
7-21599351-C-G |
c.823C>G |
p.Q275E |
Missense |
4/82 |
- |
2 |
7-21599352-A-C |
c.824A>C |
p.Q275P |
Missense |
4/82 |
- |
1 |
7-21599352-AAGC-A |
c.827_829del |
p.A276del |
InFrameDeletion |
4/82 |
- |
1 |
7-21599355-C-A |
c.827C>A |
p.A276E |
Missense |
4/82 |
- |
1 |
7-21599355-C-G |
c.827C>G |
p.A276G |
Missense |
4/82 |
- |
1 |
7-21599357-G-A |
c.829G>A |
p.E277K |
Missense |
4/82 |
- |
2 |
7-21599359-A-C |
c.831A>C |
p.E277D |
Missense |
4/82 |
- |
1 |
7-21599359-A-T |
c.831A>T |
p.E277D |
Missense |
4/82 |
- |
1 |
7-21599360-C-G |
c.832C>G |
p.L278V |
Missense |
4/82 |
- |
1 |
7-21599361-T-C |
c.833T>C |
p.L278P |
Missense |
4/82 |
- |
1 |
7-21599360-C-T |
c.832C>T |
p.L278= |
Synonymous |
4/82 |
- |
1 |
7-21599362-A-C |
c.834A>C |
p.L278= |
Synonymous |
4/82 |
- |
1 |
7-21599362-A-G |
c.834A>G |
p.L278= |
Synonymous |
4/82 |
- |
1 |
7-21599362-A-T |
c.834A>T |
p.L278= |
Synonymous |
4/82 |
- |
1 |
7-21599363-G-A |
c.835G>A |
p.D279N |
Missense |
4/82 |
- |
1 |
7-21599363-G-C |
c.835G>C |
p.D279H |
Missense |
4/82 |
- |
4 |
7-21599368-C-T |
c.840C>T |
p.F280= |
Synonymous |
4/82 |
- |
1 |
7-21599369-T-A |
c.841T>A |
p.W281R |
Missense |
4/82 |
- |
1 |
7-21599369-T-C |
c.841T>C |
p.W281R |
Missense |
4/82 |
- |
1 |
7-21599370-G-A |
c.842G>A |
p.W281* |
Nonsense |
4/82 |
- |
1 |
7-21599371-G-A |
c.843G>A |
p.W281* |
Nonsense |
4/82 |
- |
3 |
7-21599372-A-G |
c.844A>G |
p.M282V |
Missense |
4/82 |
- |
1 |
7-21599373-T-C |
c.845T>C |
p.M282T |
Missense |
4/82 |
- |
1 |
7-21599374-G-A |
c.846G>A |
p.M282I |
Missense |
4/82 |
- |
3 |
7-21599374-G-C |
c.846G>C |
p.M282I |
Missense |
4/82 |
- |
4 |
7-21599374-G-T |
c.846G>T |
p.M282I |
Missense |
4/82 |
- |
3 |
7-21599376-T-C |
c.848T>C |
p.M283T |
Missense |
4/82 |
- |
1 |
7-21599377-G-A |
c.849G>A |
p.M283I |
Missense |
4/82 |
- |
2 |
7-21599377-G-C |
c.849G>C |
p.M283I |
Missense |
4/82 |
- |
2 |
7-21599377-G-T |
c.849G>T |
p.M283I |
Missense |
4/82 |
- |
1 |
7-21599379-G-A |
c.851G>A |
p.R284K |
Missense |
4/82 |
- |
1 |
7-21599381-A-G |
c.853A>G |
p.R285G |
Missense |
4/82 |
- |
2 |
7-21599382-G-A |
c.854G>A |
p.R285K |
Missense |
4/82 |
- |
2 |
7-21599382-G-C |
c.854G>C |
p.R285T |
Missense |
4/82 |
- |
7 |
7-21599382-G-T |
c.854G>T |
p.R285I |
Missense |
4/82 |
- |
1 |
7-21599382-GAGA-G |
c.856_858del |
p.E286del |
InFrameDeletion |
4/82 |
- |
1 |
7-21599384-G-T |
c.856G>T |
p.E286* |
Nonsense |
4/82 |
- |
4 |
7-21599386-A-G |
c.858A>G |
p.E286= |
Synonymous |
4/82 |
- |
2 |
7-21599384-G-GA |
c.860dup |
p.N287Kfs*7 |
Frameshift |
4/82 |
- |
1 |
7-21599389-T-C |
c.861T>C |
p.N287= |
Synonymous |
4/82 |
- |
1 |
7-21599390-C-A |
c.862C>A |
p.L288M |
Missense |
4/82 |
- |
4 |
7-21599393-TCA-AAC |
c.865_867delinsAAC |
p.S289N |
Missense |
4/82 |
- |
1 |
7-21599394-C-T |
c.866C>T |
p.S289L |
Missense |
4/82 |
- |
1 |
7-21599395-A-T |
c.867A>T |
p.S289= |
Synonymous |
4/82 |
- |
1 |
7-21599397-G-T |
c.869G>T |
p.C290F |
Missense |
4/82 |
- |
1 |
7-21599398-C-T |
c.870C>T |
p.C290= |
Synonymous |
4/82 |
- |
1 |
7-21599399-A-C |
c.871A>C |
p.I291L |
Missense |
4/82 |
- |
1 |
7-21599399-A-G |
c.871A>G |
p.I291V |
Missense |
4/82 |
- |
1 |
7-21599403-A-G |
c.875A>G |
p.Y292C |
Missense |
4/82 |
- |
1 |
7-21599405-G-T |
c.877G>T |
p.D293Y |
Missense |
4/82 |
- |
3 |
7-21599408-C-A |
c.880C>A |
p.Q294K |
Missense |
4/82 |
- |
1 |
7-21599417-A-G |
c.882+7A>G |
- |
IntronicSNV |
- |
4/81 |
1 |
7-21599494-C-T |
c.882+84C>T |
- |
IntronicSNV |
- |
4/81 |
1 |
7-21599745-G-A |
c.882+335G>A |
- |
IntronicSNV |
- |
4/81 |
1 |
7-21599745-G-C |
c.882+335G>C |
- |
IntronicSNV |
- |
4/81 |
1 |
7-21600693-A-C |
c.887A>C |
p.Q296P |
Missense |
5/82 |
- |
1 |
7-21600695-G-A |
c.889G>A |
p.A297T |
Missense |
5/82 |
- |
1 |
7-21600695-G-C |
c.889G>C |
p.A297P |
Missense |
5/82 |
- |
2 |
7-21600696-C-T |
c.890C>T |
p.A297V |
Missense |
5/82 |
- |
2 |
7-21600697-A-G |
c.891A>G |
p.A297= |
Synonymous |
5/82 |
- |
1 |
7-21600699-C-T |
c.893C>T |
p.P298L |
Missense |
5/82 |
- |
1 |
7-21600704-G-A |
c.898G>A |
p.V300I |
Missense |
5/82 |
- |
1 |
7-21600707-C-A |
c.901C>A |
p.L301I |
Missense |
5/82 |
- |
1 |
7-21600707-C-G |
c.901C>G |
p.L301V |
Missense |
5/82 |
- |
1 |
7-21600715-G-C |
c.909G>C |
p.M303I |
Missense |
5/82 |
- |
1 |
7-21600716-G-A |
c.910G>A |
p.V304I |
Missense |
5/82 |
- |
2 |
7-21600720-A-G |
c.914A>G |
p.K305R |
Missense |
5/82 |
- |
1 |
7-21600721-G-A |
c.915G>A |
p.K305= |
Synonymous |
5/82 |
- |
1 |
7-21600721-G-T |
c.915G>T |
p.K305N |
Missense |
5/82 |
- |
1 |
7-21600725-C-T |
c.919C>T |
p.L307= |
Synonymous |
5/82 |
- |
2 |
7-21600728-A-G |
c.922A>G |
p.T308A |
Missense |
5/82 |
- |
1 |
7-21600729-C-A |
c.923C>A |
p.T308K |
Missense |
5/82 |
- |
2 |
7-21600729-CA-TG |
c.923_924inv |
p.T308M |
Missense |
5/82 |
- |
1 |
7-21600730-A-C |
c.924A>C |
p.T308= |
Synonymous |
5/82 |
- |
1 |
7-21600734-A-C |
c.928A>C |
p.K310Q |
Missense |
5/82 |
- |
1 |
7-21600735-A-T |
c.929A>T |
p.K310I |
Missense |
5/82 |
- |
1 |
7-21600740-A-T |
c.934A>T |
p.S312C |
Missense |
5/82 |
- |
1 |
7-21600741-G-A |
c.935G>A |
p.S312N |
Missense |
5/82 |
- |
8 |
7-21600743-A-G |
c.937A>G |
p.S313G |
Missense |
5/82 |
- |
1 |
7-21600744-G-A |
c.938G>A |
p.S313N |
Missense |
5/82 |
- |
1 |
7-21600744-G-T |
c.938G>T |
p.S313I |
Missense |
5/82 |
- |
3 |
7-21600745-C-T |
c.939C>T |
p.S313= |
Synonymous |
5/82 |
- |
2 |
7-21600746-T-C |
c.940T>C |
p.Y314H |
Missense |
5/82 |
- |
2 |
7-21600747-A-G |
c.941A>G |
p.Y314C |
Missense |
5/82 |
- |
2 |
7-21600749-T-A |
c.943T>A |
p.F315I |
Missense |
5/82 |
- |
1 |
7-21600752-C-T |
c.946C>T |
p.P316S |
Missense |
5/82 |
- |
1 |
7-21600756-C-T |
c.950C>T |
p.T317I |
Missense |
5/82 |
- |
1 |
7-21600757-T-A |
c.951T>A |
p.T317= |
Synonymous |
5/82 |
- |
1 |
7-21600758-C-T |
c.952C>T |
p.L318= |
Synonymous |
5/82 |
- |
1 |
7-21600760-G-A |
c.954G>A |
p.L318= |
Synonymous |
5/82 |
- |
1 |
7-21600763-G-A |
c.957G>A |
p.K319= |
Synonymous |
5/82 |
- |
1 |
7-21600764-G-A |
c.958G>A |
p.D320N |
Missense |
5/82 |
- |
1 |
7-21600773-C-A |
c.967C>A |
p.L323M |
Missense |
5/82 |
- |
1 |
7-21600777-C-A |
c.971C>A |
p.A324D |
Missense |
5/82 |
- |
1 |
7-21600777-C-T |
c.971C>T |
p.A324V |
Missense |
5/82 |
- |
1 |
7-21600779-G-A |
c.973G>A |
p.V325M |
Missense |
5/82 |
- |
1 |
7-21600780-T-G |
c.974T>G |
p.V325G |
Missense |
5/82 |
- |
1 |
7-21600782-G-A |
c.976G>A |
p.E326K |
Missense |
5/82 |
- |
1 |
7-21600784-A-C |
c.978A>C |
p.E326D |
Missense |
5/82 |
- |
1 |
7-21600784-A-T |
c.978A>T |
p.E326D |
Missense |
5/82 |
- |
1 |
7-21600790-T-A |
c.982+2T>A |
- |
IntronicSNV |
- |
5/81 |
1 |
7-21600902-A-C |
c.982+114A>C |
- |
IntronicSNV |
- |
5/81 |
4 |
7-21600902-A-G |
c.982+114A>G |
- |
IntronicSNV |
- |
5/81 |
6 |
7-21601065-TA-T |
c.982+289del |
- |
IntronicDeletion |
- |
5/81 |
1 |
7-21601444-T-A |
c.982+656T>A |
- |
IntronicSNV |
- |
5/81 |
1 |
7-21601444-T-C |
c.982+656T>C |
- |
IntronicSNV |
- |
5/81 |
1 |
7-21601659-G-GCTCT |
c.982+872_982+875dup |
- |
IntronicInsertion |
- |
5/81 |
1 |
7-21602065-G-A |
c.982+1277G>A |
- |
IntronicSNV |
- |
5/81 |
1 |
7-21602548-G-GT |
c.983-1248dup |
- |
IntronicInsertion |
- |
5/81 |
1 |
7-21603534-T-C |
c.983-270T>C |
- |
IntronicSNV |
- |
5/81 |
1 |
7-21603601-G-A |
c.983-203G>A |
- |
IntronicSNV |
- |
5/81 |
1 |
7-21603678-A-G |
c.983-126A>G |
- |
IntronicSNV |
- |
5/81 |
4 |
7-21603765-C-A |
c.983-39C>A |
- |
IntronicSNV |
- |
5/81 |
2 |
7-21603804-C-T |
c.983C>T |
p.A328V |
Missense |
6/82 |
- |
1 |
7-21603806-C-G |
c.985C>G |
p.L329V |
Missense |
6/82 |
- |
2 |
7-21603806-C-T |
c.985C>T |
p.L329F |
Missense |
6/82 |
- |
2 |
7-21603809-C-T |
c.988C>T |
p.L330F |
Missense |
6/82 |
- |
1 |
7-21603811-C-G |
c.990C>G |
p.L330= |
Synonymous |
6/82 |
- |
1 |
7-21603811-C-T |
c.990C>T |
p.L330= |
Synonymous |
6/82 |
- |
2 |
7-21603812-G-A |
c.991G>A |
p.E331K |
Missense |
6/82 |
- |
1 |
7-21603814-A-T |
c.993A>T |
p.E331D |
Missense |
6/82 |
- |
1 |
7-21603815-G-A |
c.994G>A |
p.A332T |
Missense |
6/82 |
- |
1 |
7-21603817-C-A |
c.996C>A |
p.A332= |
Synonymous |
6/82 |
- |
1 |
7-21603817-C-G |
c.996C>G |
p.A332= |
Synonymous |
6/82 |
- |
1 |
7-21603817-C-T |
c.996C>T |
p.A332= |
Synonymous |
6/82 |
- |
1 |
7-21603818-C-A |
c.997C>A |
p.Q333K |
Missense |
6/82 |
- |
1 |
7-21603819-A-G |
c.998A>G |
p.Q333R |
Missense |
6/82 |
- |
1 |
7-21603824-G-A |
c.1003G>A |
p.V335M |
Missense |
6/82 |
- |
1 |
7-21603827-G-A |
c.1006G>A |
p.E336K |
Missense |
6/82 |
- |
5 |
7-21603830-C-G |
c.1009C>G |
p.L337V |
Missense |
6/82 |
- |
1 |
7-21603831-T-A |
c.1010T>A |
p.L337H |
Missense |
6/82 |
- |
1 |
7-21603831-T-G |
c.1010T>G |
p.L337R |
Missense |
6/82 |
- |
2 |
7-21603833-TTA-T |
c.1012_1013del |
p.Y338Pfs*41 |
Frameshift |
6/82 |
- |
1 |
7-21603836-C-T |
c.1015C>T |
p.L339= |
Synonymous |
6/82 |
- |
1 |
7-21603839-AGA-TGT |
c.1018_1020delinsTGT |
p.R340C |
Missense |
6/82 |
- |
1 |
7-21603840-G-C |
c.1019G>C |
p.R340T |
Missense |
6/82 |
- |
1 |
7-21603843-C-T |
c.1022C>T |
p.P341L |
Missense |
6/82 |
- |
3 |
7-21603845-C-G |
c.1024C>G |
p.L342V |
Missense |
6/82 |
- |
2 |
7-21603846-T-C |
c.1025T>C |
p.L342P |
Missense |
6/82 |
- |
1 |
7-21603845-C-T |
c.1024C>T |
p.L342= |
Synonymous |
6/82 |
- |
2 |
7-21603847-G-A |
c.1026G>A |
p.L342= |
Synonymous |
6/82 |
- |
3 |
7-21603847-G-C |
c.1026G>C |
p.L342= |
Synonymous |
6/82 |
- |
2 |
7-21603847-G-T |
c.1026G>T |
p.L342= |
Synonymous |
6/82 |
- |
2 |
7-21603848-AG-CA |
c.1027_1028delinsCA |
p.R343Q |
Missense |
6/82 |
- |
1 |
7-21603849-G-C |
c.1028G>C |
p.R343T |
Missense |
6/82 |
- |
1 |
7-21603849-G-T |
c.1028G>T |
p.R343M |
Missense |
6/82 |
- |
1 |
7-21603852-G-A |
c.1031G>A |
p.R344K |
Missense |
6/82 |
- |
1 |
7-21603851-A-C |
c.1030A>C |
p.R344= |
Synonymous |
6/82 |
- |
2 |
7-21603853-A-G |
c.1032A>G |
p.R344= |
Synonymous |
6/82 |
- |
2 |
7-21603854-C-T |
c.1033C>T |
p.H345Y |
Missense |
6/82 |
- |
1 |
7-21603856-C-T |
c.1035C>T |
p.H345= |
Synonymous |
6/82 |
- |
3 |
7-21603857-A-G |
c.1036A>G |
p.I346V |
Missense |
6/82 |
- |
1 |
7-21603860-C-T |
c.1039C>T |
p.Q347* |
Nonsense |
6/82 |
- |
4 |
7-21603861-A-G |
c.1040A>G |
p.Q347R |
Missense |
6/82 |
- |
1 |
7-21603862-G-C |
c.1041G>C |
p.Q347H |
Missense |
6/82 |
- |
1 |
7-21603862-G-T |
c.1041G>T |
p.Q347H |
Missense |
6/82 |
- |
1 |
7-21603864-G-T |
c.1043G>T |
p.C348F |
Missense |
6/82 |
- |
1 |
7-21603865-T-C |
c.1044T>C |
p.C348= |
Synonymous |
6/82 |
- |
1 |
7-21603866-C-T |
c.1045C>T |
p.L349F |
Missense |
6/82 |
- |
1 |
7-21603868-C-T |
c.1047C>T |
p.L349= |
Synonymous |
6/82 |
- |
1 |
7-21603869-C-G |
c.1048C>G |
p.Q350E |
Missense |
6/82 |
- |
1 |
7-21603874-G-A |
c.1053G>A |
p.E351= |
Synonymous |
6/82 |
- |
4 |
7-21603874-G-C |
c.1053G>C |
p.E351D |
Missense |
6/82 |
- |
1 |
7-21603874-G-T |
c.1053G>T |
p.E351D |
Missense |
6/82 |
- |
1 |
7-21603876-C-T |
c.1055C>T |
p.T352M |
Missense |
6/82 |
- |
9 |
7-21603877-G-A |
c.1056G>A |
p.T352= |
Synonymous |
6/82 |
- |
2 |
7-21603877-G-C |
c.1056G>C |
p.T352= |
Synonymous |
6/82 |
- |
1 |
7-21603878-G-A |
c.1057G>A |
p.E353K |
Missense |
6/82 |
- |
1 |
7-21603878-G-GA |
c.1059dup |
p.F354Ifs*26 |
Frameshift |
6/82 |
- |
1 |
7-21603884-C-T |
c.1063C>T |
p.P355S |
Missense |
6/82 |
- |
7 |
7-21603882-TC-T |
c.1064del |
p.P355Hfs*6 |
Frameshift |
6/82 |
- |
1 |
7-21603885-C-T |
c.1064C>T |
p.P355L |
Missense |
6/82 |
- |
1 |
7-21603886-A-C |
c.1065A>C |
p.P355= |
Synonymous |
6/82 |
- |
2 |
7-21603886-A-G |
c.1065A>G |
p.P355= |
Synonymous |
6/82 |
- |
13 |
7-21603886-A-T |
c.1065A>T |
p.P355= |
Synonymous |
6/82 |
- |
2 |
7-21603887-C-A |
c.1066C>A |
p.Q356K |
Missense |
6/82 |
- |
2 |
7-21603889-G-A |
c.1068G>A |
p.Q356= |
Synonymous |
6/82 |
- |
3 |
7-21603890-A-G |
c.1069A>G |
p.T357A |
Missense |
6/82 |
- |
2 |
7-21603891-C-T |
c.1070C>T |
p.T357I |
Missense |
6/82 |
- |
1 |
7-21603893-C-G |
c.1072C>G |
p.R358G |
Missense |
6/82 |
- |
1 |
7-21603893-CG-AT |
c.1072_1073delinsAT |
p.R358I |
Missense |
6/82 |
- |
1 |
7-21603893-CGC-TGG |
c.1072_1074delinsTGG |
p.R358W |
Missense |
6/82 |
- |
1 |
7-21603893-C-T |
c.1072C>T |
p.R358C |
Missense |
6/82 |
- |
7 |
7-21603894-G-A |
c.1073G>A |
p.R358H |
Missense |
6/82 |
- |
1 |
7-21603895-C-A |
c.1074C>A |
p.R358= |
Synonymous |
6/82 |
- |
2 |
7-21603896-A-G |
c.1075A>G |
p.I359V |
Missense |
6/82 |
- |
1 |
7-21603898-A-G |
c.1077A>G |
p.I359M |
Missense |
6/82 |
- |
1 |
7-21603902-A-G |
c.1081A>G |
p.I361V |
Missense |
6/82 |
- |
1 |
7-21603904-C-A |
c.1083C>A |
p.I361= |
Synonymous |
6/82 |
- |
1 |
7-21603904-C-T |
c.1083C>T |
p.I361= |
Synonymous |
6/82 |
- |
2 |
7-21603905-G-A |
c.1084G>A |
p.A362T |
Missense |
6/82 |
- |
1 |
7-21603905-G-C |
c.1084G>C |
p.A362P |
Missense |
6/82 |
- |
2 |
7-21603909-C-T |
c.1088C>T |
p.P363L |
Missense |
6/82 |
- |
1 |
7-21603910-A-C |
c.1089A>C |
p.P363= |
Synonymous |
6/82 |
- |
1 |
7-21603910-A-G |
c.1089A>G |
p.P363= |
Synonymous |
6/82 |
- |
1 |
7-21603910-A-T |
c.1089A>T |
p.P363= |
Synonymous |
6/82 |
- |
1 |
7-21603911-T-C |
c.1090T>C |
p.L364= |
Synonymous |
6/82 |
- |
1 |
7-21603911-TT-CC |
c.1090_1091delinsCC |
p.L364P |
Missense |
6/82 |
- |
1 |
7-21603913-A-G |
c.1092A>G |
p.L364= |
Synonymous |
6/82 |
- |
2 |
7-21603917-C-G |
c.1096C>G |
p.H366D |
Missense |
6/82 |
- |
1 |
7-21603917-C-T |
c.1096C>T |
p.H366Y |
Missense |
6/82 |
- |
4 |
7-21603918-A-ATAAT |
c.1099_1100insATTA |
p.T367Nfs*14 |
Frameshift |
6/82 |
- |
1 |
7-21603921-C-A |
c.1100C>A |
p.T367N |
Missense |
6/82 |
- |
1 |
7-21603922-C-G |
c.1101C>G |
p.T367= |
Synonymous |
6/82 |
- |
1 |
7-21603925-C-A |
c.1104C>A |
p.I368= |
Synonymous |
6/82 |
- |
1 |
7-21603925-C-T |
c.1104C>T |
p.I368= |
Synonymous |
6/82 |
- |
2 |
7-21603928-T-C |
c.1107T>C |
p.C369= |
Synonymous |
6/82 |
- |
1 |
7-21603929-C-A |
c.1108C>A |
p.L370M |
Missense |
6/82 |
- |
1 |
7-21603933-T-C |
c.1112T>C |
p.I371T |
Missense |
6/82 |
- |
1 |
7-21603934-C-A |
c.1113C>A |
p.I371= |
Synonymous |
6/82 |
- |
1 |
7-21603934-C-G |
c.1113C>G |
p.I371M |
Missense |
6/82 |
- |
2 |
7-21603938-A-T |
c.1117A>T |
p.S373C |
Missense |
6/82 |
- |
1 |
7-21603941-C-A |
c.1120C>A |
p.H374N |
Missense |
6/82 |
- |
1 |
7-21603941-C-G |
c.1120C>G |
p.H374D |
Missense |
6/82 |
- |
2 |
7-21603941-C-T |
c.1120C>T |
p.H374Y |
Missense |
6/82 |
- |
2 |
7-21603949-G-C |
c.1128G>C |
p.K376N |
Missense |
6/82 |
- |
1 |
7-21603949-G-T |
c.1128G>T |
p.K376N |
Missense |
6/82 |
- |
1 |
7-21603950-T-C |
c.1129T>C |
p.F377L |
Missense |
6/82 |
- |
2 |
7-21603952-T-A |
c.1131T>A |
p.F377L |
Missense |
6/82 |
- |
2 |
7-21603952-T-G |
c.1131T>G |
p.F377L |
Missense |
6/82 |
- |
2 |
7-21603955-T-C |
c.1134T>C |
p.Y378= |
Synonymous |
6/82 |
- |
1 |
7-21603956-A-G |
c.1135A>G |
p.N379D |
Missense |
6/82 |
- |
1 |
7-21603958-C-T |
c.1137C>T |
p.N379= |
Synonymous |
6/82 |
- |
2 |
7-21603960-CC-TG |
c.1139_1140delinsTG |
p.T380M |
Missense |
6/82 |
- |
2 |
7-21603960-C-T |
c.1139C>T |
p.T380I |
Missense |
6/82 |
- |
1 |
7-21603962-C-T |
c.1141C>T |
p.P381S |
Missense |
6/82 |
- |
1 |
7-21603967-T-A |
c.1146T>A |
p.A382= |
Synonymous |
6/82 |
- |
1 |
7-21603967-T-C |
c.1146T>C |
p.A382= |
Synonymous |
6/82 |
- |
1 |
7-21603967-T-G |
c.1146T>G |
p.A382= |
Synonymous |
6/82 |
- |
1 |
7-21603968-C-G |
c.1147C>G |
p.R383G |
Missense |
6/82 |
- |
1 |
7-21603968-CGG-TGT |
c.1147_1149delinsTGT |
p.R383C |
Missense |
6/82 |
- |
1 |
7-21603968-C-T |
c.1147C>T |
p.R383W |
Missense |
6/82 |
- |
3 |
7-21603969-G-A |
c.1148G>A |
p.R383Q |
Missense |
6/82 |
- |
3 |
7-21603971-G-C |
c.1150G>C |
p.V384L |
Missense |
6/82 |
- |
1 |
7-21603971-GTT-ATG |
c.1150_1152delinsATG |
p.V384M |
Missense |
6/82 |
- |
1 |
7-21603977-G-A |
c.1156G>A |
p.V386I |
Missense |
6/82 |
- |
1 |
7-21603977-GTT-ATG |
c.1156_1158delinsATG |
p.V386M |
Missense |
6/82 |
- |
1 |
7-21603978-T-A |
c.1157T>A |
p.V386D |
Missense |
6/82 |
- |
1 |
7-21603978-T-G |
c.1157T>G |
p.V386G |
Missense |
6/82 |
- |
1 |
7-21603982-A-G |
c.1161A>G |
p.L387= |
Synonymous |
6/82 |
- |
1 |
7-21603983-T-C |
c.1162T>C |
p.L388= |
Synonymous |
6/82 |
- |
1 |
7-21603985-G-A |
c.1164G>A |
p.L388= |
Synonymous |
6/82 |
- |
1 |
7-21603989-G-A |
c.1168G>A |
p.E390K |
Missense |
6/82 |
- |
1 |
7-21603989-G-T |
c.1168G>T |
p.E390* |
Nonsense |
6/82 |
- |
1 |
7-21603990-A-G |
c.1169A>G |
p.E390G |
Missense |
6/82 |
- |
1 |
7-21603992-T-C |
c.1171T>C |
p.F391L |
Missense |
6/82 |
- |
1 |
7-21603992-T-G |
c.1171T>G |
p.F391V |
Missense |
6/82 |
- |
1 |
7-21603998-A-T |
c.1177A>T |
p.N393Y |
Missense |
6/82 |
- |
1 |
7-21604000-T-A |
c.1179T>A |
p.N393K |
Missense |
6/82 |
- |
2 |
7-21604000-T-G |
c.1179T>G |
p.N393K |
Missense |
6/82 |
- |
2 |
7-21604001-CT-AG |
c.1180_1181inv |
p.L394S |
Missense |
6/82 |
- |
1 |
7-21604003-C-A |
c.1182C>A |
p.L394= |
Synonymous |
6/82 |
- |
1 |
7-21604003-C-G |
c.1182C>G |
p.L394= |
Synonymous |
6/82 |
- |
2 |
7-21604003-C-T |
c.1182C>T |
p.L394= |
Synonymous |
6/82 |
- |
1 |
7-21604007-A-C |
c.1186A>C |
p.I396L |
Missense |
6/82 |
- |
3 |
7-21604007-A-G |
c.1186A>G |
p.I396V |
Missense |
6/82 |
- |
1 |
7-21604010-A-G |
c.1189A>G |
p.N397D |
Missense |
6/82 |
- |
1 |
7-21604014-A-G |
c.1193A>G |
p.Q398R |
Missense |
6/82 |
- |
1 |
7-21604019-T-C |
c.1194+4T>C |
- |
IntronicSNV |
- |
6/81 |
1 |
7-21604166-A-G |
c.1194+151A>G |
- |
IntronicSNV |
- |
6/81 |
1 |
7-21604519-A-G |
c.1194+504A>G |
- |
IntronicSNV |
- |
6/81 |
1 |
7-21604916-C-G |
c.1194+901C>G |
- |
IntronicSNV |
- |
6/81 |
1 |
7-21605973-A-G |
c.1194+1958A>G |
- |
IntronicSNV |
- |
6/81 |
2 |
7-21607245-G-T |
c.1195-2442G>T |
- |
IntronicSNV |
- |
6/81 |
1 |
7-21607283-C-G |
c.1195-2404C>G |
- |
IntronicSNV |
- |
6/81 |
1 |
7-21607352-T-C |
c.1195-2335T>C |
- |
IntronicSNV |
- |
6/81 |
32 |
7-21609507-A-G |
c.1195-180A>G |
- |
IntronicSNV |
- |
6/81 |
1 |
7-21609623-G-A |
c.1195-64G>A |
- |
IntronicSNV |
- |
6/81 |
2 |
7-21609625-C-T |
c.1195-62C>T |
- |
IntronicSNV |
- |
6/81 |
3 |
7-21609687-G-A |
c.1195G>A |
p.A399T |
Missense |
7/82 |
- |
2 |
7-21609690-A-T |
c.1198A>T |
p.T400S |
Missense |
7/82 |
- |
1 |
7-21609691-C-T |
c.1199C>T |
p.T400I |
Missense |
7/82 |
- |
11 |
7-21609692-A-G |
c.1200A>G |
p.T400= |
Synonymous |
7/82 |
- |
1 |
7-21609696-T-A |
c.1204T>A |
p.Y402N |
Missense |
7/82 |
- |
5 |
7-21609702-TC-GG |
c.1210_1211delinsGG |
p.S404G |
Missense |
7/82 |
- |
1 |
7-21609703-C-T |
c.1211C>T |
p.S404L |
Missense |
7/82 |
- |
1 |
7-21609706-C-T |
c.1214C>T |
p.P405L |
Missense |
7/82 |
- |
1 |
7-21609707-CTGA-C |
c.1215_1217del |
p.E406del |
InFrameDeletion |
7/82 |
- |
1 |
7-21609708-G-T |
c.1216G>T |
p.E406* |
Nonsense |
7/82 |
- |
1 |
7-21609710-G-C |
c.1218G>C |
p.E406D |
Missense |
7/82 |
- |
1 |
7-21609711-G-C |
c.1219G>C |
p.D407H |
Missense |
7/82 |
- |
1 |
7-21609714-C-T |
c.1222C>T |
p.L408F |
Missense |
7/82 |
- |
2 |
7-21609716-T-A |
c.1224T>A |
p.L408= |
Synonymous |
7/82 |
- |
2 |
7-21609716-T-C |
c.1224T>C |
p.L408= |
Synonymous |
7/82 |
- |
2 |
7-21609716-T-G |
c.1224T>G |
p.L408= |
Synonymous |
7/82 |
- |
2 |
7-21609717-TTG-ATC |
c.1225_1227delinsATC |
p.L409I |
Missense |
7/82 |
- |
1 |
7-21609720-AG-TA |
c.1228_1229delinsTA |
p.R410* |
Nonsense |
7/82 |
- |
1 |
7-21609721-G-A |
c.1229G>A |
p.R410K |
Missense |
7/82 |
- |
2 |
7-21609721-G-T |
c.1229G>T |
p.R410M |
Missense |
7/82 |
- |
1 |
7-21609723-G-A |
c.1231G>A |
p.G411R |
Missense |
7/82 |
- |
3 |
7-21609723-G-C |
c.1231G>C |
p.G411R |
Missense |
7/82 |
- |
3 |
7-21609724-G-A |
c.1232G>A |
p.G411E |
Missense |
7/82 |
- |
2 |
7-21609724-G-C |
c.1232G>C |
p.G411A |
Missense |
7/82 |
- |
1 |
7-21609726-G-T |
c.1234G>T |
p.E412* |
Nonsense |
7/82 |
- |
1 |
7-21609729-A-C |
c.1237A>C |
p.I413L |
Missense |
7/82 |
- |
1 |
7-21609733-A-G |
c.1241A>G |
p.E414G |
Missense |
7/82 |
- |
2 |
7-21609735-G-A |
c.1243G>A |
p.E415K |
Missense |
7/82 |
- |
2 |
7-21609737-G-T |
c.1245G>T |
p.E415D |
Missense |
7/82 |
- |
1 |
7-21609739-C-T |
c.1247C>T |
p.S416L |
Missense |
7/82 |
- |
1 |
7-21609741-CTG-ATC |
c.1249_1251delinsATC |
p.L417I |
Missense |
7/82 |
- |
1 |
7-21609744-G-A |
c.1252G>A |
p.E418K |
Missense |
7/82 |
- |
1 |
7-21609744-G-T |
c.1252G>T |
p.E418* |
Nonsense |
7/82 |
- |
1 |
7-21609750-G-C |
c.1258G>C |
p.V420L |
Missense |
7/82 |
- |
3 |
7-21609750-G-T |
c.1258G>T |
p.V420L |
Missense |
7/82 |
- |
4 |
7-21609753-C-G |
c.1261C>G |
p.Q421E |
Missense |
7/82 |
- |
1 |
7-21609755-G-A |
c.1263G>A |
p.Q421= |
Synonymous |
7/82 |
- |
1 |
7-21609756-G-A |
c.1264G>A |
p.V422M |
Missense |
7/82 |
- |
1 |
7-21609756-G-C |
c.1264G>C |
p.V422L |
Missense |
7/82 |
- |
1 |
7-21609756-G-T |
c.1264G>T |
p.V422L |
Missense |
7/82 |
- |
1 |
7-21609763-T-C |
c.1271T>C |
p.V424A |
Missense |
7/82 |
- |
1 |
7-21609764-T-C |
c.1272T>C |
p.V424= |
Synonymous |
7/82 |
- |
3 |
7-21609765-A-G |
c.1273A>G |
p.N425D |
Missense |
7/82 |
- |
1 |
7-21609767-C-A |
c.1275C>A |
p.N425K |
Missense |
7/82 |
- |
1 |
7-21609767-C-T |
c.1275C>T |
p.N425= |
Synonymous |
7/82 |
- |
1 |
7-21609768-A-G |
c.1276A>G |
p.I426V |
Missense |
7/82 |
- |
1 |
7-21609773-A-G |
c.1281A>G |
p.L427= |
Synonymous |
7/82 |
- |
3 |
7-21609776-G-C |
c.1284G>C |
p.K428N |
Missense |
7/82 |
- |
1 |
7-21609776-G-T |
c.1284G>T |
p.K428N |
Missense |
7/82 |
- |
1 |
7-21609777-A-T |
c.1285A>T |
p.T429S |
Missense |
7/82 |
- |
1 |
7-21609778-C-A |
c.1286C>A |
p.T429N |
Missense |
7/82 |
- |
1 |
7-21609778-C-T |
c.1286C>T |
p.T429I |
Missense |
7/82 |
- |
2 |
7-21609778-CT-TG |
c.1286_1287delinsTG |
p.T429M |
Missense |
7/82 |
- |
1 |
7-21609782-C-G |
c.1290C>G |
p.F430L |
Missense |
7/82 |
- |
1 |
7-21609778-C-CT |
c.1289dup |
p.K431Qfs*8 |
Frameshift |
7/82 |
- |
1 |
7-21609781-T-C |
c.1289T>C |
p.F430S |
Missense |
7/82 |
- |
1 |
7-21609785-A-C |
c.1293A>C |
p.K431N |
Missense |
7/82 |
- |
1 |
7-21609785-A-G |
c.1293A>G |
p.K431= |
Synonymous |
7/82 |
- |
1 |
7-21609782-CA-C |
c.1295del |
p.N432Tfs*19 |
Frameshift |
7/82 |
- |
1 |
7-21609787-A-T |
c.1295A>T |
p.N432I |
Missense |
7/82 |
- |
1 |
7-21609788-C-T |
c.1296C>T |
p.N432= |
Synonymous |
7/82 |
- |
1 |
7-21609791-C-T |
c.1299C>T |
p.S433= |
Synonymous |
7/82 |
- |
1 |
7-21609792-T-C |
c.1300T>C |
p.F434L |
Missense |
7/82 |
- |
2 |
7-21609796-T-A |
c.1304T>A |
p.F435Y |
Missense |
7/82 |
- |
1 |
7-21609797-C-G |
c.1305C>G |
p.F435L |
Missense |
7/82 |
- |
1 |
7-21609797-C-T |
c.1305C>T |
p.F435= |
Synonymous |
7/82 |
- |
3 |
7-21609798-A-T |
c.1306A>T |
p.N436Y |
Missense |
7/82 |
- |
2 |
7-21609799-A-C |
c.1307A>C |
p.N436T |
Missense |
7/82 |
- |
1 |
7-21609800-C-A |
c.1308C>A |
p.N436K |
Missense |
7/82 |
- |
1 |
7-21609800-C-G |
c.1308C>G |
p.N436K |
Missense |
7/82 |
- |
1 |
7-21609802-A-AT |
c.1311dup |
p.R438* |
Nonsense |
7/82 |
- |
1 |
7-21609805-G-C |
c.1313G>C |
p.R438T |
Missense |
7/82 |
- |
3 |
7-21609806-A-C |
c.1314A>C |
p.R438S |
Missense |
7/82 |
- |
1 |
7-21609806-A-T |
c.1314A>T |
p.R438S |
Missense |
7/82 |
- |
1 |
7-21609808-A-G |
c.1316A>G |
p.K439R |
Missense |
7/82 |
- |
1 |
7-21609805-G-GA |
c.1320dup |
p.L441Ifs*25 |
Frameshift |
7/82 |
- |
3 |
7-21609812-A-C |
c.1320A>C |
p.K440N |
Missense |
7/82 |
- |
1 |
7-21609812-A-T |
c.1320A>T |
p.K440N |
Missense |
7/82 |
- |
1 |
7-21609813-T-A |
c.1321T>A |
p.L441M |
Missense |
7/82 |
- |
1 |
7-21609813-T-C |
c.1321T>C |
p.L441= |
Synonymous |
7/82 |
- |
1 |
7-21609815-G-A |
c.1323G>A |
p.L441= |
Synonymous |
7/82 |
- |
2 |
7-21609816-G-A |
c.1324G>A |
p.A442T |
Missense |
7/82 |
- |
1 |
7-21609816-G-T |
c.1324G>T |
p.A442S |
Missense |
7/82 |
- |
1 |
7-21609817-C-T |
c.1325C>T |
p.A442V |
Missense |
7/82 |
- |
1 |
7-21609820-G-C |
c.1328G>C |
p.S443T |
Missense |
7/82 |
- |
1 |
7-21609825-T-C |
c.1333T>C |
p.F445L |
Missense |
7/82 |
- |
1 |
7-21609826-T-C |
c.1334T>C |
p.F445S |
Missense |
7/82 |
- |
1 |
7-21609827-T-C |
c.1335T>C |
p.F445= |
Synonymous |
7/82 |
- |
1 |
7-21609829-T-G |
c.1337T>G |
p.M446R |
Missense |
7/82 |
- |
1 |
7-21609830-G-A |
c.1338G>A |
p.M446I |
Missense |
7/82 |
- |
1 |
7-21609830-G-C |
c.1338G>C |
p.M446I |
Missense |
7/82 |
- |
1 |
7-21609830-G-T |
c.1338G>T |
p.M446I |
Missense |
7/82 |
- |
1 |
7-21609831-G-A |
c.1339G>A |
p.G447R |
Missense |
7/82 |
- |
5 |
7-21609831-G-C |
c.1339G>C |
p.G447R |
Missense |
7/82 |
- |
3 |
7-21609835-G-A |
c.1343G>A |
p.R448K |
Missense |
7/82 |
- |
5 |
7-21609835-G-T |
c.1343G>T |
p.R448I |
Missense |
7/82 |
- |
2 |
7-21609841-T-G |
c.1349T>G |
p.L450R |
Missense |
7/82 |
- |
1 |
7-21609840-C-T |
c.1348C>T |
p.L450= |
Synonymous |
7/82 |
- |
1 |
7-21609842-G-A |
c.1350G>A |
p.L450= |
Synonymous |
7/82 |
- |
1 |
7-21609842-G-C |
c.1350G>C |
p.L450= |
Synonymous |
7/82 |
- |
1 |
7-21609842-G-T |
c.1350G>T |
p.L450= |
Synonymous |
7/82 |
- |
1 |
7-21609843-A-T |
c.1351A>T |
p.R451* |
Nonsense |
7/82 |
- |
1 |
7-21609844-G-A |
c.1352G>A |
p.R451K |
Missense |
7/82 |
- |
1 |
7-21609847-C-T |
c.1355C>T |
p.P452L |
Missense |
7/82 |
- |
3 |
7-21609850-G-T |
c.1358G>T |
p.W453L |
Missense |
7/82 |
- |
1 |
7-21609851-G-T |
c.1359G>T |
p.W453C |
Missense |
7/82 |
- |
1 |
7-21609852-G-T |
c.1360G>T |
p.D454Y |
Missense |
7/82 |
- |
1 |
7-21609853-A-T |
c.1361A>T |
p.D454V |
Missense |
7/82 |
- |
2 |
7-21609855-T-G |
c.1363T>G |
p.F455V |
Missense |
7/82 |
- |
1 |
7-21609857-C-G |
c.1365C>G |
p.F455L |
Missense |
7/82 |
- |
1 |
7-21609858-C-T |
c.1366C>T |
p.Q456* |
Nonsense |
7/82 |
- |
1 |
7-21609861-T-C |
c.1369T>C |
p.S457P |
Missense |
7/82 |
- |
1 |
7-21609861-TC-CT |
c.1369_1370delinsCT |
p.S457L |
Missense |
7/82 |
- |
1 |
7-21609862-C-T |
c.1370C>T |
p.S457F |
Missense |
7/82 |
- |
2 |
7-21609865-A-G |
c.1373A>G |
p.H458R |
Missense |
7/82 |
- |
1 |
7-21609867-C-T |
c.1375C>T |
p.L459= |
Synonymous |
7/82 |
- |
3 |
7-21609868-T-C |
c.1376T>C |
p.L459P |
Missense |
7/82 |
- |
1 |
7-21609870-G-A |
c.1378G>A |
p.V460M |
Missense |
7/82 |
- |
2 |
7-21609875-T-C |
c.1383T>C |
p.F461= |
Synonymous |
7/82 |
- |
1 |
7-21609876-T-C |
c.1384T>C |
p.C462R |
Missense |
7/82 |
- |
1 |
7-21609876-TG-AC |
c.1384_1385delinsAC |
p.C462T |
Missense |
7/82 |
- |
1 |
7-21609880-G-T |
c.1388G>T |
p.R463I |
Missense |
7/82 |
- |
1 |
7-21609888-A-C |
c.1396A>C |
p.K466Q |
Missense |
7/82 |
- |
1 |
7-21609889-A-C |
c.1397A>C |
p.K466T |
Missense |
7/82 |
- |
4 |
7-21609890-G-A |
c.1398G>A |
p.K466= |
Synonymous |
7/82 |
- |
1 |
7-21609895-T-C |
c.1403T>C |
p.L468P |
Missense |
7/82 |
- |
1 |
7-21609897-G-C |
c.1405G>C |
p.D469H |
Missense |
7/82 |
- |
1 |
7-21609898-A-G |
c.1406A>G |
p.D469G |
Missense |
7/82 |
- |
1 |
7-21609900-C-T |
c.1408C>T |
p.R470C |
Missense |
7/82 |
- |
2 |
7-21609901-G-A |
c.1409G>A |
p.R470H |
Missense |
7/82 |
- |
9 |
7-21609901-G-C |
c.1409G>C |
p.R470P |
Missense |
7/82 |
- |
2 |
7-21609901-G-T |
c.1409G>T |
p.R470L |
Missense |
7/82 |
- |
1 |
7-21609906-A-G |
c.1414A>G |
p.I472V |
Missense |
7/82 |
- |
1 |
7-21609912-A-G |
c.1420A>G |
p.I474V |
Missense |
7/82 |
- |
1 |
7-21609915-G-C |
c.1423G>C |
p.E475Q |
Missense |
7/82 |
- |
4 |
7-21609918-G-T |
c.1425+1G>T |
- |
IntronicSNV |
- |
7/81 |
1 |
7-21609954-G-T |
c.1425+37G>T |
- |
IntronicSNV |
- |
7/81 |
1 |
7-21611187-G-A |
c.1426-237G>A |
- |
IntronicSNV |
- |
7/81 |
1 |
7-21611187-G-C |
c.1426-237G>C |
- |
IntronicSNV |
- |
7/81 |
1 |
7-21611399-G-A |
c.1426-25G>A |
- |
IntronicSNV |
- |
7/81 |
4 |
7-21611399-G-C |
c.1426-25G>C |
- |
IntronicSNV |
- |
7/81 |
4 |
7-21611399-G-T |
c.1426-25G>T |
- |
IntronicSNV |
- |
7/81 |
4 |
7-21611424-G-A |
c.1426G>A |
p.D476N |
Missense |
8/82 |
- |
2 |
7-21611424-G-C |
c.1426G>C |
p.D476H |
Missense |
8/82 |
- |
1 |
7-21611429-A-G |
c.1431A>G |
p.I477M |
Missense |
8/82 |
- |
1 |
7-21611433-G-A |
c.1435G>A |
p.A479T |
Missense |
8/82 |
- |
3 |
7-21611433-G-C |
c.1435G>C |
p.A479P |
Missense |
8/82 |
- |
1 |
7-21611436-A-G |
c.1438A>G |
p.T480A |
Missense |
8/82 |
- |
1 |
7-21611437-C-T |
c.1439C>T |
p.T480I |
Missense |
8/82 |
- |
2 |
7-21611439-A-G |
c.1441A>G |
p.T481A |
Missense |
8/82 |
- |
1 |
7-21611444-G-A |
c.1446G>A |
p.L482= |
Synonymous |
8/82 |
- |
1 |
7-21611444-G-T |
c.1446G>T |
p.L482F |
Missense |
8/82 |
- |
1 |
7-21611446-A-C |
c.1448A>C |
p.E483A |
Missense |
8/82 |
- |
1 |
7-21611447-A-G |
c.1449A>G |
p.E483= |
Synonymous |
8/82 |
- |
1 |
7-21611448-T-C |
c.1450T>C |
p.F484L |
Missense |
8/82 |
- |
1 |
7-21611450-T-A |
c.1452T>A |
p.F484L |
Missense |
8/82 |
- |
1 |
7-21611450-T-G |
c.1452T>G |
p.F484L |
Missense |
8/82 |
- |
4 |
7-21611457-C-G |
c.1459C>G |
p.L487V |
Missense |
8/82 |
- |
1 |
7-21611457-CTG-ATC |
c.1459_1461delinsATC |
p.L487I |
Missense |
8/82 |
- |
1 |
7-21611460-G-A |
c.1462G>A |
p.E488K |
Missense |
8/82 |
- |
2 |
7-21611461-A-T |
c.1463A>T |
p.E488V |
Missense |
8/82 |
- |
1 |
7-21611463-AGA-CAT |
c.1465_1467delinsCAT |
p.R489H |
Missense |
8/82 |
- |
1 |
7-21611463-AGA-TGG |
c.1465_1467delinsTGG |
p.R489W |
Missense |
8/82 |
- |
1 |
7-21611464-G-A |
c.1466G>A |
p.R489K |
Missense |
8/82 |
- |
5 |
7-21611463-A-C |
c.1465A>C |
p.R489= |
Synonymous |
8/82 |
- |
1 |
7-21611465-A-G |
c.1467A>G |
p.R489= |
Synonymous |
8/82 |
- |
1 |
7-21611465-A-T |
c.1467A>T |
p.R489S |
Missense |
8/82 |
- |
1 |
7-21611466-C-G |
c.1468C>G |
p.L490V |
Missense |
8/82 |
- |
1 |
7-21611466-C-T |
c.1468C>T |
p.L490= |
Synonymous |
8/82 |
- |
1 |
7-21611468-G-T |
c.1470G>T |
p.L490= |
Synonymous |
8/82 |
- |
1 |
7-21611469-G-A |
c.1471G>A |
p.E491K |
Missense |
8/82 |
- |
2 |
7-21611475-G-A |
c.1477G>A |
p.G493S |
Missense |
8/82 |
- |
1 |
7-21611476-G-A |
c.1478G>A |
p.G493D |
Missense |
8/82 |
- |
2 |
7-21611476-G-T |
c.1478G>T |
p.G493V |
Missense |
8/82 |
- |
2 |
7-21611479-G-A |
c.1481G>A |
p.G494D |
Missense |
8/82 |
- |
1 |
7-21611482-C-T |
c.1484C>T |
p.T495I |
Missense |
8/82 |
- |
1 |
7-21611483-C-A |
c.1485C>A |
p.T495= |
Synonymous |
8/82 |
- |
1 |
7-21611483-C-G |
c.1485C>G |
p.T495= |
Synonymous |
8/82 |
- |
1 |
7-21611483-C-T |
c.1485C>T |
p.T495= |
Synonymous |
8/82 |
- |
1 |
7-21611484-A-G |
c.1486A>G |
p.K496E |
Missense |
8/82 |
- |
1 |
7-21611486-A-G |
c.1488A>G |
p.K496= |
Synonymous |
8/82 |
- |
1 |
7-21611487-G-A |
c.1489G>A |
p.G497R |
Missense |
8/82 |
- |
4 |
7-21611487-G-T |
c.1489G>T |
p.G497* |
Nonsense |
8/82 |
- |
1 |
7-21611490-G-T |
c.1492G>T |
p.A498S |
Missense |
8/82 |
- |
1 |
7-21611491-C-T |
c.1493C>T |
p.A498V |
Missense |
8/82 |
- |
1 |
7-21611493-A-G |
c.1495A>G |
p.I499V |
Missense |
8/82 |
- |
2 |
7-21611499-A-G |
c.1501A>G |
p.N501D |
Missense |
8/82 |
- |
1 |
7-21611500-A-G |
c.1502A>G |
p.N501S |
Missense |
8/82 |
- |
3 |
7-21611501-T-C |
c.1503T>C |
p.N501= |
Synonymous |
8/82 |
- |
1 |
7-21611501-T-G |
c.1503T>G |
p.N501K |
Missense |
8/82 |
- |
1 |
7-21611502-G-A |
c.1504G>A |
p.G502R |
Missense |
8/82 |
- |
2 |
7-21611502-G-T |
c.1504G>T |
p.G502* |
Nonsense |
8/82 |
- |
1 |
7-21611503-G-T |
c.1505G>T |
p.G502V |
Missense |
8/82 |
- |
3 |
7-21611511-C-T |
c.1513C>T |
p.H505Y |
Missense |
8/82 |
- |
1 |
7-21611514-G-A |
c.1516G>A |
p.E506K |
Missense |
8/82 |
- |
2 |
7-21611514-G-C |
c.1516G>C |
p.E506Q |
Missense |
8/82 |
- |
2 |
7-21611516-G-A |
c.1518G>A |
p.E506= |
Synonymous |
8/82 |
- |
2 |
7-21611518-T-A |
c.1520T>A |
p.M507K |
Missense |
8/82 |
- |
4 |
7-21611521-G-A |
c.1523G>A |
p.S508N |
Missense |
8/82 |
- |
2 |
7-21611522-T-C |
c.1524T>C |
p.S508= |
Synonymous |
8/82 |
- |
1 |
7-21611523-G-T |
c.1525G>T |
p.E509* |
Nonsense |
8/82 |
- |
3 |
7-21611526-G-A |
c.1528G>A |
p.E510K |
Missense |
8/82 |
- |
3 |
7-21611526-G-T |
c.1528G>T |
p.E510* |
Nonsense |
8/82 |
- |
4 |
7-21611533-T-A |
c.1535T>A |
p.M512K |
Missense |
8/82 |
- |
1 |
7-21611533-T-C |
c.1535T>C |
p.M512T |
Missense |
8/82 |
- |
1 |
7-21611534-G-A |
c.1536G>A |
p.M512I |
Missense |
8/82 |
- |
2 |
7-21611535-G-A |
c.1537G>A |
p.E513K |
Missense |
8/82 |
- |
4 |
7-21611538-C-A |
c.1540C>A |
p.L514I |
Missense |
8/82 |
- |
2 |
7-21611540-C-A |
c.1542C>A |
p.L514= |
Synonymous |
8/82 |
- |
1 |
7-21611540-C-G |
c.1542C>G |
p.L514= |
Synonymous |
8/82 |
- |
1 |
7-21611540-C-T |
c.1542C>T |
p.L514= |
Synonymous |
8/82 |
- |
1 |
7-21611541-T-C |
c.1543T>C |
p.C515R |
Missense |
8/82 |
- |
1 |
7-21611541-TG-AC |
c.1543_1544delinsAC |
p.C515T |
Missense |
8/82 |
- |
1 |
7-21611542-G-T |
c.1544G>T |
p.C515F |
Missense |
8/82 |
- |
1 |
7-21611543-TA-T |
c.1548del |
p.K516Nfs*50 |
Frameshift |
8/82 |
- |
1 |
7-21611546-A-G |
c.1548A>G |
p.K516= |
Synonymous |
8/82 |
- |
1 |
7-21611547-C-G |
c.1549C>G |
p.L517V |
Missense |
8/82 |
- |
1 |
7-21611547-C-T |
c.1549C>T |
p.L517F |
Missense |
8/82 |
- |
1 |
7-21611550-T-G |
c.1552T>G |
p.F518V |
Missense |
8/82 |
- |
1 |
7-21611553-A-G |
c.1555A>G |
p.K519E |
Missense |
8/82 |
- |
1 |
7-21611556-C-T |
c.1558C>T |
p.Q520* |
Nonsense |
8/82 |
- |
1 |
7-21611557-A-G |
c.1559A>G |
p.Q520R |
Missense |
8/82 |
- |
1 |
7-21611558-G-C |
c.1560G>C |
p.Q520H |
Missense |
8/82 |
- |
1 |
7-21611558-G-T |
c.1560G>T |
p.Q520H |
Missense |
8/82 |
- |
1 |
7-21611559-A-C |
c.1561A>C |
p.S521R |
Missense |
8/82 |
- |
1 |
7-21611561-C-A |
c.1563C>A |
p.S521R |
Missense |
8/82 |
- |
1 |
7-21611561-C-G |
c.1563C>G |
p.S521R |
Missense |
8/82 |
- |
1 |
7-21611563-C-T |
c.1565C>T |
p.T522I |
Missense |
8/82 |
- |
1 |
7-21611565-T-C |
c.1567T>C |
p.Y523H |
Missense |
8/82 |
- |
1 |
7-21611568-G-T |
c.1570G>T |
p.D524Y |
Missense |
8/82 |
- |
1 |
7-21611575-C-A |
c.1577C>A |
p.S526Y |
Missense |
8/82 |
- |
1 |
7-21611575-C-G |
c.1577C>G |
p.S526C |
Missense |
8/82 |
- |
1 |
7-21611580-TG-AC |
c.1582_1583delinsAC |
p.C528T |
Missense |
8/82 |
- |
1 |
7-21611582-C-T |
c.1584C>T |
p.C528= |
Synonymous |
8/82 |
- |
1 |
7-21611583-A-T |
c.1585A>T |
p.T529S |
Missense |
8/82 |
- |
2 |
7-21611584-C-A |
c.1586C>A |
p.T529N |
Missense |
8/82 |
- |
2 |
7-21611584-C-G |
c.1586C>G |
p.T529S |
Missense |
8/82 |
- |
2 |
7-21611592-G-A |
c.1593+1G>A |
- |
IntronicSNV |
- |
8/81 |
1 |
7-21611619-G-C |
c.1593+28G>C |
- |
IntronicSNV |
- |
8/81 |
2 |
7-21611619-G-T |
c.1593+28G>T |
- |
IntronicSNV |
- |
8/81 |
3 |
7-21611626-A-C |
c.1593+35A>C |
- |
IntronicSNV |
- |
8/81 |
1 |
7-21611626-A-G |
c.1593+35A>G |
- |
IntronicSNV |
- |
8/81 |
1 |
7-21611626-A-T |
c.1593+35A>T |
- |
IntronicSNV |
- |
8/81 |
1 |
7-21612705-T-A |
c.1593+1114T>A |
- |
IntronicSNV |
- |
8/81 |
1 |
7-21612705-T-C |
c.1593+1114T>C |
- |
IntronicSNV |
- |
8/81 |
1 |
7-21613146-C-G |
c.1593+1555C>G |
- |
IntronicSNV |
- |
8/81 |
1 |
7-21613284-T-A |
c.1593+1693T>A |
- |
IntronicSNV |
- |
8/81 |
1 |
7-21613603-C-T |
c.1593+2012C>T |
- |
IntronicSNV |
- |
8/81 |
1 |
7-21614575-C-G |
c.1593+2984C>G |
- |
IntronicSNV |
- |
8/81 |
2 |
7-21615425-T-C |
c.1593+3834T>C |
- |
IntronicSNV |
- |
8/81 |
1 |
7-21618093-A-G |
c.1594-3430A>G |
- |
IntronicSNV |
- |
8/81 |
1 |
7-21621453-G-A |
c.1594-70G>A |
- |
IntronicSNV |
- |
8/81 |
1 |
7-21621525-G-T |
c.1596G>T |
p.E532D |
Missense |
9/82 |
- |
1 |
7-21621527-T-G |
c.1598T>G |
p.F533C |
Missense |
9/82 |
- |
3 |
7-21621530-A-G |
c.1601A>G |
p.E534G |
Missense |
9/82 |
- |
2 |
7-21621531-A-G |
c.1602A>G |
p.E534= |
Synonymous |
9/82 |
- |
1 |
7-21621532-A-T |
c.1603A>T |
p.S535C |
Missense |
9/82 |
- |
1 |
7-21621534-T-C |
c.1605T>C |
p.S535= |
Synonymous |
9/82 |
- |
1 |
7-21621541-G-A |
c.1612G>A |
p.V538M |
Missense |
9/82 |
- |
1 |
7-21621544-G-A |
c.1615G>A |
p.A539T |
Missense |
9/82 |
- |
1 |
7-21621545-C-T |
c.1616C>T |
p.A539V |
Missense |
9/82 |
- |
3 |
7-21621554-C-T |
c.1625C>T |
p.S542F |
Missense |
9/82 |
- |
1 |
7-21621560-CT-TG |
c.1631_1632delinsTG |
p.T544M |
Missense |
9/82 |
- |
1 |
7-21621562-C-T |
c.1633C>T |
p.L545= |
Synonymous |
9/82 |
- |
2 |
7-21621564-G-A |
c.1635G>A |
p.L545= |
Synonymous |
9/82 |
- |
1 |
7-21621564-G-C |
c.1635G>C |
p.L545= |
Synonymous |
9/82 |
- |
1 |
7-21621564-G-T |
c.1635G>T |
p.L545= |
Synonymous |
9/82 |
- |
1 |
7-21621565-G-A |
c.1636G>A |
p.E546K |
Missense |
9/82 |
- |
4 |
7-21621569-T-G |
c.1640T>G |
p.F547C |
Missense |
9/82 |
- |
1 |
7-21621570-T-A |
c.1641T>A |
p.F547L |
Missense |
9/82 |
- |
1 |
7-21621571-G-C |
c.1642G>C |
p.D548H |
Missense |
9/82 |
- |
3 |
7-21621572-A-G |
c.1643A>G |
p.D548G |
Missense |
9/82 |
- |
1 |
7-21621575-G-A |
c.1646G>A |
p.R549K |
Missense |
9/82 |
- |
1 |
7-21621575-GA-G |
c.1648del |
p.R550Gfs*16 |
Frameshift |
9/82 |
- |
2 |
7-21621577-AG-CT |
c.1648_1649inv |
p.R550L |
Missense |
9/82 |
- |
1 |
7-21621579-G-C |
c.1650G>C |
p.R550S |
Missense |
9/82 |
- |
1 |
7-21621582-T-A |
c.1653T>A |
p.L551= |
Synonymous |
9/82 |
- |
1 |
7-21621582-T-C |
c.1653T>C |
p.L551= |
Synonymous |
9/82 |
- |
1 |
7-21621582-T-G |
c.1653T>G |
p.L551= |
Synonymous |
9/82 |
- |
1 |
7-21621583-G-T |
c.1654G>T |
p.G552W |
Missense |
9/82 |
- |
1 |
7-21621584-G-T |
c.1655G>T |
p.G552V |
Missense |
9/82 |
- |
2 |
7-21621586-A-G |
c.1657A>G |
p.T553A |
Missense |
9/82 |
- |
1 |
7-21621586-A-T |
c.1657A>T |
p.T553S |
Missense |
9/82 |
- |
1 |
7-21621599-A-G |
c.1670A>G |
p.E557G |
Missense |
9/82 |
- |
1 |
7-21621601-G-T |
c.1672G>T |
p.A558S |
Missense |
9/82 |
- |
1 |
7-21621602-C-T |
c.1673C>T |
p.A558V |
Missense |
9/82 |
- |
1 |
7-21621602-CT-C |
c.1676del |
p.F559Sfs*7 |
Frameshift |
9/82 |
- |
1 |
7-21621607-T-C |
c.1678T>C |
p.F560L |
Missense |
9/82 |
- |
1 |
7-21621609-T-A |
c.1680T>A |
p.F560L |
Missense |
9/82 |
- |
2 |
7-21621609-T-G |
c.1680T>G |
p.F560L |
Missense |
9/82 |
- |
1 |
7-21621608-T-C |
c.1679T>C |
p.F560S |
Missense |
9/82 |
- |
1 |
7-21621614-G-A |
c.1685G>A |
p.C562Y |
Missense |
9/82 |
- |
1 |
7-21621614-G-C |
c.1685G>C |
p.C562S |
Missense |
9/82 |
- |
1 |
7-21621620-G-C |
c.1691G>C |
p.G564A |
Missense |
9/82 |
- |
1 |
7-21621621-C-A |
c.1692C>A |
p.G564= |
Synonymous |
9/82 |
- |
1 |
7-21621621-C-G |
c.1692C>G |
p.G564= |
Synonymous |
9/82 |
- |
1 |
7-21621621-C-T |
c.1692C>T |
p.G564= |
Synonymous |
9/82 |
- |
1 |
7-21621622-T-C |
c.1693T>C |
p.L565= |
Synonymous |
9/82 |
- |
1 |
7-21621622-T-G |
c.1693T>G |
p.L565V |
Missense |
9/82 |
- |
1 |
7-21621623-T-C |
c.1694T>C |
p.L565S |
Missense |
9/82 |
- |
1 |
7-21621624-A-C |
c.1695A>C |
p.L565F |
Missense |
9/82 |
- |
1 |
7-21621624-A-T |
c.1695A>T |
p.L565F |
Missense |
9/82 |
- |
1 |
7-21621625-G-A |
c.1696G>A |
p.E566K |
Missense |
9/82 |
- |
1 |
7-21621626-A-G |
c.1697A>G |
p.E566G |
Missense |
9/82 |
- |
1 |
7-21621627-A-C |
c.1698A>C |
p.E566D |
Missense |
9/82 |
- |
2 |
7-21621629-C-G |
c.1700C>G |
p.A567G |
Missense |
9/82 |
- |
1 |
7-21621630-T-A |
c.1701T>A |
p.A567= |
Synonymous |
9/82 |
- |
2 |
7-21621630-T-C |
c.1701T>C |
p.A567= |
Synonymous |
9/82 |
- |
1 |
7-21621630-T-G |
c.1701T>G |
p.A567= |
Synonymous |
9/82 |
- |
1 |
7-21621631-G-A |
c.1702G>A |
p.A568T |
Missense |
9/82 |
- |
14 |
7-21621631-G-T |
c.1702G>T |
p.A568S |
Missense |
9/82 |
- |
1 |
7-21621632-C-T |
c.1703C>T |
p.A568V |
Missense |
9/82 |
- |
1 |
7-21621634-T-C |
c.1705T>C |
p.F569L |
Missense |
9/82 |
- |
1 |
7-21621636-T-A |
c.1707T>A |
p.F569L |
Missense |
9/82 |
- |
1 |
7-21621636-T-G |
c.1707T>G |
p.F569L |
Missense |
9/82 |
- |
1 |
7-21621639-G-A |
c.1710G>A |
p.K570= |
Synonymous |
9/82 |
- |
1 |
7-21621639-G-C |
c.1710G>C |
p.K570N |
Missense |
9/82 |
- |
1 |
7-21621640-G-A |
c.1710+1G>A |
- |
IntronicSNV |
- |
9/81 |
1 |
7-21627683-T-C |
c.1712T>C |
p.L571P |
Missense |
10/82 |
- |
1 |
7-21627691-A-G |
c.1720A>G |
p.I574V |
Missense |
10/82 |
- |
1 |
7-21627697-G-T |
c.1726G>T |
p.G576* |
Nonsense |
10/82 |
- |
1 |
7-21627698-G-A |
c.1727G>A |
p.G576E |
Missense |
10/82 |
- |
5 |
7-21627706-CTA-TTT |
c.1735_1737delinsTTT |
p.L579F |
Missense |
10/82 |
- |
1 |
7-21627707-T-C |
c.1736T>C |
p.L579P |
Missense |
10/82 |
- |
1 |
7-21627706-C-T |
c.1735C>T |
p.L579= |
Synonymous |
10/82 |
- |
1 |
7-21627708-A-C |
c.1737A>C |
p.L579= |
Synonymous |
10/82 |
- |
1 |
7-21627708-A-G |
c.1737A>G |
p.L579= |
Synonymous |
10/82 |
- |
1 |
7-21627708-A-T |
c.1737A>T |
p.L579= |
Synonymous |
10/82 |
- |
1 |
7-21627709-G-A |
c.1738G>A |
p.E580K |
Missense |
10/82 |
- |
1 |
7-21627709-G-C |
c.1738G>C |
p.E580Q |
Missense |
10/82 |
- |
2 |
7-21627718-G-A |
c.1747G>A |
p.V583I |
Missense |
10/82 |
- |
1 |
7-21627720-T-A |
c.1749T>A |
p.V583= |
Synonymous |
10/82 |
- |
1 |
7-21627720-T-C |
c.1749T>C |
p.V583= |
Synonymous |
10/82 |
- |
1 |
7-21627720-T-G |
c.1749T>G |
p.V583= |
Synonymous |
10/82 |
- |
1 |
7-21627723-C-A |
c.1752C>A |
p.V584= |
Synonymous |
10/82 |
- |
1 |
7-21627723-C-G |
c.1752C>G |
p.V584= |
Synonymous |
10/82 |
- |
1 |
7-21627723-C-T |
c.1752C>T |
p.V584= |
Synonymous |
10/82 |
- |
1 |
7-21627726-G-GA |
c.1755_1756insA |
p.E586Rfs*15 |
Frameshift |
10/82 |
- |
1 |
7-21627726-G-T |
c.1755G>T |
p.M585I |
Missense |
10/82 |
- |
1 |
7-21627727-G-A |
c.1756G>A |
p.E586K |
Missense |
10/82 |
- |
1 |
7-21627727-G-T |
c.1756G>T |
p.E586* |
Nonsense |
10/82 |
- |
1 |
7-21627732-T-G |
c.1761T>G |
p.I587M |
Missense |
10/82 |
- |
2 |
7-21627735-C-T |
c.1764C>T |
p.F588= |
Synonymous |
10/82 |
- |
1 |
7-21627736-AG-CC |
c.1765_1766delinsCC |
p.S589P |
Missense |
10/82 |
- |
1 |
7-21627742-C-A |
c.1771C>A |
p.H591N |
Missense |
10/82 |
- |
1 |
7-21627744-T-A |
c.1773T>A |
p.H591Q |
Missense |
10/82 |
- |
3 |
7-21627744-T-G |
c.1773T>G |
p.H591Q |
Missense |
10/82 |
- |
2 |
7-21627745-TTACAGCACA-T |
c.1774_1782del |
p.Y592_T594del |
InFrameDeletion |
10/82 |
- |
1 |
7-21627746-A-G |
c.1775A>G |
p.Y592C |
Missense |
10/82 |
- |
1 |
7-21627747-C-A |
c.1776C>A |
p.Y592* |
Nonsense |
10/82 |
- |
1 |
7-21627747-C-G |
c.1776C>G |
p.Y592* |
Nonsense |
10/82 |
- |
1 |
7-21627748-A-G |
c.1777A>G |
p.S593G |
Missense |
10/82 |
- |
1 |
7-21627749-G-A |
c.1778G>A |
p.S593N |
Missense |
10/82 |
- |
2 |
7-21627757-G-A |
c.1786G>A |
p.V596M |
Missense |
10/82 |
- |
2 |
7-21627758-T-A |
c.1787T>A |
p.V596E |
Missense |
10/82 |
- |
1 |
7-21627760-C-A |
c.1789C>A |
p.H597N |
Missense |
10/82 |
- |
1 |
7-21627760-C-T |
c.1789C>T |
p.H597Y |
Missense |
10/82 |
- |
1 |
7-21627761-A-G |
c.1790A>G |
p.H597R |
Missense |
10/82 |
- |
1 |
7-21627764-T-C |
c.1793T>C |
p.M598T |
Missense |
10/82 |
- |
2 |
7-21627765-G-A |
c.1794G>A |
p.M598I |
Missense |
10/82 |
- |
1 |
7-21627765-G-T |
c.1794G>T |
p.M598I |
Missense |
10/82 |
- |
1 |
7-21627772-A-G |
c.1801A>G |
p.T601A |
Missense |
10/82 |
- |
1 |
7-21627772-A-T |
c.1801A>T |
p.T601S |
Missense |
10/82 |
- |
1 |
7-21627775-G-A |
c.1804G>A |
p.E602K |
Missense |
10/82 |
- |
2 |
7-21627778-C-A |
c.1807C>A |
p.L603M |
Missense |
10/82 |
- |
2 |
7-21627781-G-A |
c.1810G>A |
p.D604N |
Missense |
10/82 |
- |
1 |
7-21627781-G-T |
c.1810G>T |
p.D604Y |
Missense |
10/82 |
- |
1 |
7-21627786-G-A |
c.1815G>A |
p.V605= |
Synonymous |
10/82 |
- |
1 |
7-21627786-G-C |
c.1815G>C |
p.V605= |
Synonymous |
10/82 |
- |
1 |
7-21627786-G-T |
c.1815G>T |
p.V605= |
Synonymous |
10/82 |
- |
1 |
7-21627787-GTGT-G |
c.1816_1818del |
p.C606del |
InFrameDeletion |
10/82 |
- |
1 |
7-21627788-G-A |
c.1817G>A |
p.C606Y |
Missense |
10/82 |
- |
4 |
7-21627795-A-C |
c.1824A>C |
p.Q608H |
Missense |
10/82 |
- |
1 |
7-21627795-A-T |
c.1824A>T |
p.Q608H |
Missense |
10/82 |
- |
1 |
7-21627796-C-G |
c.1825C>G |
p.L609V |
Missense |
10/82 |
- |
1 |
7-21627797-TG-AT |
c.1826_1827delinsAT |
p.L609H |
Missense |
10/82 |
- |
2 |
7-21627796-C-T |
c.1825C>T |
p.L609= |
Synonymous |
10/82 |
- |
1 |
7-21627798-G-A |
c.1827G>A |
p.L609= |
Synonymous |
10/82 |
- |
1 |
7-21627798-G-C |
c.1827G>C |
p.L609= |
Synonymous |
10/82 |
- |
1 |
7-21627798-G-T |
c.1827G>T |
p.L609= |
Synonymous |
10/82 |
- |
1 |
7-21627806-A-C |
c.1835A>C |
p.E612A |
Missense |
10/82 |
- |
2 |
7-21627812-T-C |
c.1841T>C |
p.M614T |
Missense |
10/82 |
- |
1 |
7-21627813-G-A |
c.1842G>A |
p.M614I |
Missense |
10/82 |
- |
4 |
7-21627817-C-G |
c.1846C>G |
p.Q616E |
Missense |
10/82 |
- |
2 |
7-21627817-C-T |
c.1846C>T |
p.Q616* |
Nonsense |
10/82 |
- |
1 |
7-21627818-A-T |
c.1847A>T |
p.Q616L |
Missense |
10/82 |
- |
1 |
7-21627819-G-A |
c.1848G>A |
p.Q616= |
Synonymous |
10/82 |
- |
1 |
7-21627819-G-C |
c.1848G>C |
p.Q616H |
Missense |
10/82 |
- |
1 |
7-21627864-C-A |
c.1848+45C>A |
- |
IntronicSNV |
- |
10/81 |
1 |
7-21627864-C-T |
c.1848+45C>T |
- |
IntronicSNV |
- |
10/81 |
1 |
7-21627909-A-G |
c.1848+90A>G |
- |
IntronicSNV |
- |
10/81 |
6 |
7-21627909-A-T |
c.1848+90A>T |
- |
IntronicSNV |
- |
10/81 |
3 |
7-21628132-T-G |
c.1851T>G |
p.I617M |
Missense |
11/82 |
- |
1 |
7-21628133-G-A |
c.1852G>A |
p.E618K |
Missense |
11/82 |
- |
2 |
7-21628134-A-T |
c.1853A>T |
p.E618V |
Missense |
11/82 |
- |
4 |
7-21628137-G-A |
c.1856G>A |
p.C619Y |
Missense |
11/82 |
- |
1 |
7-21628137-G-T |
c.1856G>T |
p.C619F |
Missense |
11/82 |
- |
1 |
7-21628139-G-C |
c.1858G>C |
p.G620R |
Missense |
11/82 |
- |
1 |
7-21628140-G-C |
c.1859G>C |
p.G620A |
Missense |
11/82 |
- |
1 |
7-21628141-T-C |
c.1860T>C |
p.G620= |
Synonymous |
11/82 |
- |
1 |
7-21628143-A-G |
c.1862A>G |
p.H621R |
Missense |
11/82 |
- |
1 |
7-21628146-T-C |
c.1865T>C |
p.V622A |
Missense |
11/82 |
- |
1 |
7-21628149-T-C |
c.1868T>C |
p.V623A |
Missense |
11/82 |
- |
2 |
7-21628152-TT-AA |
c.1871_1872inv |
p.L624Q |
Missense |
11/82 |
- |
1 |
7-21628164-T-C |
c.1883T>C |
p.M628T |
Missense |
11/82 |
- |
1 |
7-21628165-G-T |
c.1884G>T |
p.M628I |
Missense |
11/82 |
- |
1 |
7-21628166-C-T |
c.1885C>T |
p.P629S |
Missense |
11/82 |
- |
1 |
7-21628175-T-C |
c.1894T>C |
p.S632P |
Missense |
11/82 |
- |
4 |
7-21628179-G-A |
c.1898G>A |
p.G633E |
Missense |
11/82 |
- |
1 |
7-21628179-G-T |
c.1898G>T |
p.G633V |
Missense |
11/82 |
- |
1 |
7-21628182-A-C |
c.1901A>C |
p.N634T |
Missense |
11/82 |
- |
1 |
7-21628184-A-G |
c.1903A>G |
p.M635V |
Missense |
11/82 |
- |
1 |
7-21628186-G-A |
c.1905G>A |
p.M635I |
Missense |
11/82 |
- |
4 |
7-21628186-G-C |
c.1905G>C |
p.M635I |
Missense |
11/82 |
- |
1 |
7-21628186-G-T |
c.1905G>T |
p.M635I |
Missense |
11/82 |
- |
1 |
7-21628191-G-T |
c.1910G>T |
p.W637L |
Missense |
11/82 |
- |
2 |
7-21628193-G-A |
c.1912G>A |
p.A638T |
Missense |
11/82 |
- |
1 |
7-21628193-G-T |
c.1912G>T |
p.A638S |
Missense |
11/82 |
- |
2 |
7-21628196-CA-TG |
c.1915_1916inv |
p.Q639W |
Missense |
11/82 |
- |
1 |
7-21628196-C-G |
c.1915C>G |
p.Q639E |
Missense |
11/82 |
- |
1 |
7-21628196-C-T |
c.1915C>T |
p.Q639* |
Nonsense |
11/82 |
- |
6 |
7-21628197-A-G |
c.1916A>G |
p.Q639R |
Missense |
11/82 |
- |
22 |
7-21628197-A-T |
c.1916A>T |
p.Q639L |
Missense |
11/82 |
- |
5 |
7-21628198-G-A |
c.1917G>A |
p.Q639= |
Synonymous |
11/82 |
- |
2 |
7-21628199-C-A |
c.1918C>A |
p.Q640K |
Missense |
11/82 |
- |
1 |
7-21628202-G-A |
c.1921G>A |
p.V641I |
Missense |
11/82 |
- |
2 |
7-21628202-GT-AA |
c.1921_1922delinsAA |
p.V641N |
Missense |
11/82 |
- |
3 |
7-21628203-T-A |
c.1922T>A |
p.V641D |
Missense |
11/82 |
- |
2 |
7-21628204-T-A |
c.1923T>A |
p.V641= |
Synonymous |
11/82 |
- |
1 |
7-21628204-T-C |
c.1923T>C |
p.V641= |
Synonymous |
11/82 |
- |
1 |
7-21628204-T-G |
c.1923T>G |
p.V641= |
Synonymous |
11/82 |
- |
1 |
7-21628205-C-T |
c.1924C>T |
p.L642F |
Missense |
11/82 |
- |
1 |
7-21628208-C-T |
c.1927C>T |
p.Q643* |
Nonsense |
11/82 |
- |
2 |
7-21628210-A-T |
c.1929A>T |
p.Q643H |
Missense |
11/82 |
- |
1 |
7-21628211-C-T |
c.1930C>T |
p.R644* |
Nonsense |
11/82 |
- |
4 |
7-21628212-GA-AG |
c.1931_1932delinsAG |
p.R644Q |
Missense |
11/82 |
- |
1 |
7-21628214-C-T |
c.1933C>T |
p.L645F |
Missense |
11/82 |
- |
1 |
7-21628216-T-C |
c.1935T>C |
p.L645= |
Synonymous |
11/82 |
- |
1 |
7-21628217-C-T |
c.1936C>T |
p.Q646* |
Nonsense |
11/82 |
- |
4 |
7-21628218-A-G |
c.1937A>G |
p.Q646R |
Missense |
11/82 |
- |
1 |
7-21628222-G-A |
c.1941G>A |
p.M647I |
Missense |
11/82 |
- |
3 |
7-21628222-G-C |
c.1941G>C |
p.M647I |
Missense |
11/82 |
- |
1 |
7-21628222-G-T |
c.1941G>T |
p.M647I |
Missense |
11/82 |
- |
1 |
7-21628223-T-A |
c.1942T>A |
p.F648I |
Missense |
11/82 |
- |
1 |
7-21628230-C-T |
c.1949C>T |
p.S650L |
Missense |
11/82 |
- |
2 |
7-21628231-A-C |
c.1950A>C |
p.S650= |
Synonymous |
11/82 |
- |
1 |
7-21628231-A-G |
c.1950A>G |
p.S650= |
Synonymous |
11/82 |
- |
1 |
7-21628231-A-T |
c.1950A>T |
p.S650= |
Synonymous |
11/82 |
- |
1 |
7-21628233-A-G |
c.1952A>G |
p.N651S |
Missense |
11/82 |
- |
2 |
7-21628237-C-T |
c.1956C>T |
p.F652= |
Synonymous |
11/82 |
- |
21 |
7-21628239-C-T |
c.1958C>T |
p.A653V |
Missense |
11/82 |
- |
3 |
7-21628241-TC-AT |
c.1960_1961delinsAT |
p.S654I |
Missense |
11/82 |
- |
1 |
7-21628241-TC-CG |
c.1960_1961delinsCG |
p.S654R |
Missense |
11/82 |
- |
1 |
7-21628241-TC-CT |
c.1960_1961delinsCT |
p.S654L |
Missense |
11/82 |
- |
1 |
7-21628241-T-G |
c.1960T>G |
p.S654A |
Missense |
11/82 |
- |
1 |
7-21628242-C-G |
c.1961C>G |
p.S654C |
Missense |
11/82 |
- |
20 |
7-21628242-C-T |
c.1961C>T |
p.S654F |
Missense |
11/82 |
- |
2 |
7-21628243-T-A |
c.1962T>A |
p.S654= |
Synonymous |
11/82 |
- |
1 |
7-21628243-T-C |
c.1962T>C |
p.S654= |
Synonymous |
11/82 |
- |
1 |
7-21628243-T-G |
c.1962T>G |
p.S654= |
Synonymous |
11/82 |
- |
1 |
7-21628246-C-T |
c.1965C>T |
p.L655= |
Synonymous |
11/82 |
- |
1 |
7-21628247-C-T |
c.1966C>T |
p.R656C |
Missense |
11/82 |
- |
1 |
7-21628248-G-A |
c.1967G>A |
p.R656H |
Missense |
11/82 |
- |
1 |
7-21628251-A-G |
c.1970A>G |
p.Y657C |
Missense |
11/82 |
- |
1 |
7-21628685-C-G |
c.1974-141C>G |
- |
IntronicSNV |
- |
11/81 |
1 |
7-21628825-G-C |
c.1974-1G>C |
- |
IntronicSNV |
- |
11/81 |
1 |
7-21628826-GATTTTTGGGCAATCCTGATCACGCTTTAGTTTATCAAAAGTATGTTGAAATGACCACTT-G |
c.1974_2032del |
p.F659Afs*2 |
Unclassified |
12/82 |
- |
1 |
7-21628830-T-G |
c.1978T>G |
p.L660V |
Missense |
12/82 |
- |
1 |
7-21628833-G-A |
c.1981G>A |
p.G661S |
Missense |
12/82 |
- |
2 |
7-21628834-G-C |
c.1982G>C |
p.G661A |
Missense |
12/82 |
- |
1 |
7-21628837-A-G |
c.1985A>G |
p.N662S |
Missense |
12/82 |
- |
1 |
7-21628839-C-G |
c.1987C>G |
p.P663A |
Missense |
12/82 |
- |
1 |
7-21628840-C-A |
c.1988C>A |
p.P663H |
Missense |
12/82 |
- |
1 |
7-21628840-C-T |
c.1988C>T |
p.P663L |
Missense |
12/82 |
- |
1 |
7-21628842-G-A |
c.1990G>A |
p.D664N |
Missense |
12/82 |
- |
3 |
7-21628845-C-G |
c.1993C>G |
p.H665D |
Missense |
12/82 |
- |
1 |
7-21628845-C-T |
c.1993C>T |
p.H665Y |
Missense |
12/82 |
- |
1 |
7-21628848-G-A |
c.1996G>A |
p.A666T |
Missense |
12/82 |
- |
1 |
7-21628849-C-G |
c.1997C>G |
p.A666G |
Missense |
12/82 |
- |
1 |
7-21628850-T-A |
c.1998T>A |
p.A666= |
Synonymous |
12/82 |
- |
1 |
7-21628850-T-C |
c.1998T>C |
p.A666= |
Synonymous |
12/82 |
- |
1 |
7-21628850-T-G |
c.1998T>G |
p.A666= |
Synonymous |
12/82 |
- |
2 |
7-21628852-T-C |
c.2000T>C |
p.L667S |
Missense |
12/82 |
- |
1 |
7-21628854-G-T |
c.2002G>T |
p.V668F |
Missense |
12/82 |
- |
1 |
7-21628860-C-G |
c.2008C>G |
p.Q670E |
Missense |
12/82 |
- |
1 |
7-21628861-A-G |
c.2009A>G |
p.Q670R |
Missense |
12/82 |
- |
1 |
7-21628862-A-C |
c.2010A>C |
p.Q670H |
Missense |
12/82 |
- |
1 |
7-21628862-A-T |
c.2010A>T |
p.Q670H |
Missense |
12/82 |
- |
1 |
7-21628862-A-AAG |
c.2011_2012insGA |
p.K671Rfs*6 |
Frameshift |
12/82 |
- |
1 |
7-21628863-A-C |
c.2011A>C |
p.K671Q |
Missense |
12/82 |
- |
1 |
7-21628866-T-C |
c.2014T>C |
p.Y672H |
Missense |
12/82 |
- |
1 |
7-21628869-G-A |
c.2017G>A |
p.V673I |
Missense |
12/82 |
- |
1 |
7-21628877-G-T |
c.2025G>T |
p.M675I |
Missense |
12/82 |
- |
2 |
7-21628880-C-A |
c.2028C>A |
p.T676= |
Synonymous |
12/82 |
- |
1 |
7-21628881-A-T |
c.2029A>T |
p.T677S |
Missense |
12/82 |
- |
1 |
7-21628882-C-G |
c.2030C>G |
p.T677S |
Missense |
12/82 |
- |
1 |
7-21628882-C-T |
c.2030C>T |
p.T677I |
Missense |
12/82 |
- |
1 |
7-21628883-T-A |
c.2031T>A |
p.T677= |
Synonymous |
12/82 |
- |
1 |
7-21628883-T-C |
c.2031T>C |
p.T677= |
Synonymous |
12/82 |
- |
1 |
7-21628883-T-G |
c.2031T>G |
p.T677= |
Synonymous |
12/82 |
- |
1 |
7-21628889-T-A |
c.2037T>A |
p.L679= |
Synonymous |
12/82 |
- |
1 |
7-21628889-T-C |
c.2037T>C |
p.L679= |
Synonymous |
12/82 |
- |
1 |
7-21628889-T-G |
c.2037T>G |
p.L679= |
Synonymous |
12/82 |
- |
1 |
7-21628890-G-A |
c.2038G>A |
p.D680N |
Missense |
12/82 |
- |
3 |
7-21628890-G-C |
c.2038G>C |
p.D680H |
Missense |
12/82 |
- |
2 |
7-21628891-A-C |
c.2039A>C |
p.D680A |
Missense |
12/82 |
- |
4 |
7-21628895-A-G |
c.2043A>G |
p.Q681= |
Synonymous |
12/82 |
- |
4 |
7-21628896-T-A |
c.2044T>A |
p.F682I |
Missense |
12/82 |
- |
1 |
7-21628898-T-C |
c.2046T>C |
p.F682= |
Synonymous |
12/82 |
- |
1 |
7-21628899-TG-T |
c.2047del |
p.E683Kfs*20 |
Frameshift |
12/82 |
- |
1 |
7-21628901-A-G |
c.2049A>G |
p.E683= |
Synonymous |
12/82 |
- |
1 |
7-21628903-G-T |
c.2051G>T |
p.S684I |
Missense |
12/82 |
- |
2 |
7-21628906-G-A |
c.2054G>A |
p.R685H |
Missense |
12/82 |
- |
4 |
7-21628907-T-A |
c.2055T>A |
p.R685= |
Synonymous |
12/82 |
- |
2 |
7-21628907-T-C |
c.2055T>C |
p.R685= |
Synonymous |
12/82 |
- |
3 |
7-21628907-T-G |
c.2055T>G |
p.R685= |
Synonymous |
12/82 |
- |
2 |
7-21628909-T-C |
c.2057T>C |
p.I686T |
Missense |
12/82 |
- |
1 |
7-21628910-C-G |
c.2058C>G |
p.I686M |
Missense |
12/82 |
- |
1 |
7-21628912-A-G |
c.2060A>G |
p.Y687C |
Missense |
12/82 |
- |
2 |
7-21628916-T-C |
c.2064T>C |
p.N688= |
Synonymous |
12/82 |
- |
2 |
7-21628917-G-A |
c.2065G>A |
p.E689K |
Missense |
12/82 |
- |
1 |
7-21628919-A-G |
c.2067A>G |
p.E689= |
Synonymous |
12/82 |
- |
1 |
7-21628920-T-A |
c.2068T>A |
p.W690R |
Missense |
12/82 |
- |
1 |
7-21628921-G-C |
c.2069G>C |
p.W690S |
Missense |
12/82 |
- |
1 |
7-21628922-G-A |
c.2070G>A |
p.W690* |
Nonsense |
12/82 |
- |
4 |
7-21628926-AG-TT |
c.2074_2075delinsTT |
p.S692F |
Missense |
12/82 |
- |
1 |
7-21628926-A-T |
c.2074A>T |
p.S692C |
Missense |
12/82 |
- |
1 |
7-21628928-T-A |
c.2076T>A |
p.S692R |
Missense |
12/82 |
- |
1 |
7-21628928-T-G |
c.2076T>G |
p.S692R |
Missense |
12/82 |
- |
1 |
7-21628929-A-C |
c.2077A>C |
p.N693H |
Missense |
12/82 |
- |
2 |
7-21628929-A-T |
c.2077A>T |
p.N693Y |
Missense |
12/82 |
- |
1 |
7-21628932-G-A |
c.2080G>A |
p.V694M |
Missense |
12/82 |
- |
1 |
7-21628932-G-T |
c.2080G>T |
p.V694L |
Missense |
12/82 |
- |
1 |
7-21628930-ATG-A |
c.2081_2082del |
p.V694Gfs*2 |
Frameshift |
12/82 |
- |
2 |
7-21628935-G-A |
c.2083G>A |
p.D695N |
Missense |
12/82 |
- |
6 |
7-21628937-T-TAG |
c.2085_2086insAG |
p.E696Rfs*8 |
Frameshift |
12/82 |
- |
1 |
7-21628938-G-A |
c.2086G>A |
p.E696K |
Missense |
12/82 |
- |
1 |
7-21628947-G-A |
c.2095G>A |
p.E699K |
Missense |
12/82 |
- |
1 |
7-21628947-G-T |
c.2095G>T |
p.E699* |
Nonsense |
12/82 |
- |
1 |
7-21628950-T-C |
c.2098T>C |
p.F700L |
Missense |
12/82 |
- |
2 |
7-21628952-C-A |
c.2100C>A |
p.F700L |
Missense |
12/82 |
- |
2 |
7-21628952-C-G |
c.2100C>G |
p.F700L |
Missense |
12/82 |
- |
2 |
7-21628954-A-G |
c.2102A>G |
p.N701S |
Missense |
12/82 |
- |
1 |
7-21628956-T-C |
c.2104T>C |
p.L702= |
Synonymous |
12/82 |
- |
1 |
7-21628956-T-G |
c.2104T>G |
p.L702V |
Missense |
12/82 |
- |
1 |
7-21628958-G-A |
c.2106G>A |
p.L702= |
Synonymous |
12/82 |
- |
1 |
7-21628958-G-C |
c.2106G>C |
p.L702F |
Missense |
12/82 |
- |
2 |
7-21628958-G-T |
c.2106G>T |
p.L702F |
Missense |
12/82 |
- |
1 |
7-21628959-A-G |
c.2107A>G |
p.N703D |
Missense |
12/82 |
- |
1 |
7-21628966-C-T |
c.2114C>T |
p.P705L |
Missense |
12/82 |
- |
3 |
7-21628968-T-C |
c.2116T>C |
p.L706= |
Synonymous |
12/82 |
- |
1 |
7-21628973-T-A |
c.2121T>A |
p.V707= |
Synonymous |
12/82 |
- |
1 |
7-21628976-A-G |
c.2124A>G |
p.K708= |
Synonymous |
12/82 |
- |
1 |
7-21628977-T-C |
c.2125T>C |
p.F709L |
Missense |
12/82 |
- |
5 |
7-21628979-C-A |
c.2127C>A |
p.F709L |
Missense |
12/82 |
- |
4 |
7-21628979-C-G |
c.2127C>G |
p.F709L |
Missense |
12/82 |
- |
3 |
7-21628979-C-T |
c.2127C>T |
p.F709= |
Synonymous |
12/82 |
- |
1 |
7-21628980-A-T |
c.2128A>T |
p.S710C |
Missense |
12/82 |
- |
1 |
7-21628986-A-G |
c.2134A>G |
p.I712V |
Missense |
12/82 |
- |
1 |
7-21628986-A-T |
c.2134A>T |
p.I712L |
Missense |
12/82 |
- |
1 |
7-21628988-A-C |
c.2136A>C |
p.I712= |
Synonymous |
12/82 |
- |
1 |
7-21628988-A-T |
c.2136A>T |
p.I712= |
Synonymous |
12/82 |
- |
1 |
7-21628992-G-T |
c.2140G>T |
p.G714C |
Missense |
12/82 |
- |
3 |
7-21628993-G-C |
c.2141G>C |
p.G714A |
Missense |
12/82 |
- |
1 |
7-21628994-T-A |
c.2142T>A |
p.G714= |
Synonymous |
12/82 |
- |
1 |
7-21628994-T-C |
c.2142T>C |
p.G714= |
Synonymous |
12/82 |
- |
1 |
7-21628994-T-G |
c.2142T>G |
p.G714= |
Synonymous |
12/82 |
- |
1 |
7-21628998-C-T |
c.2146C>T |
p.L716F |
Missense |
12/82 |
- |
5 |
7-21629000-C-A |
c.2148C>A |
p.L716= |
Synonymous |
12/82 |
- |
1 |
7-21629000-C-G |
c.2148C>G |
p.L716= |
Synonymous |
12/82 |
- |
1 |
7-21629000-C-T |
c.2148C>T |
p.L716= |
Synonymous |
12/82 |
- |
1 |
7-21629002-G-A |
c.2150G>A |
p.C717Y |
Missense |
12/82 |
- |
1 |
7-21629002-G-T |
c.2150G>T |
p.C717F |
Missense |
12/82 |
- |
1 |
7-21629004-G-A |
c.2152G>A |
p.V718I |
Missense |
12/82 |
- |
1 |
7-21629004-G-T |
c.2152G>T |
p.V718F |
Missense |
12/82 |
- |
1 |
7-21629008-A-C |
c.2156A>C |
p.N719T |
Missense |
12/82 |
- |
1 |
7-21629011-T-G |
c.2159T>G |
p.F720C |
Missense |
12/82 |
- |
2 |
7-21629013-G-C |
c.2161G>C |
p.D721H |
Missense |
12/82 |
- |
1 |
7-21629013-G-T |
c.2161G>T |
p.D721Y |
Missense |
12/82 |
- |
1 |
7-21629014-A-G |
c.2162A>G |
p.D721G |
Missense |
12/82 |
- |
1 |
7-21629016-C-A |
c.2164C>A |
p.P722T |
Missense |
12/82 |
- |
1 |
7-21629016-C-G |
c.2164C>G |
p.P722A |
Missense |
12/82 |
- |
1 |
7-21629016-C-T |
c.2164C>T |
p.P722S |
Missense |
12/82 |
- |
1 |
7-21629018-A-G |
c.2166A>G |
p.P722= |
Synonymous |
12/82 |
- |
1 |
7-21630283-A-G |
c.2170-253A>G |
- |
IntronicSNV |
- |
12/81 |
1 |
7-21630542-G-A |
c.2176G>A |
p.A726T |
Missense |
13/82 |
- |
1 |
7-21630546-T-G |
c.2180T>G |
p.V727G |
Missense |
13/82 |
- |
2 |
7-21630551-A-T |
c.2185A>T |
p.R729* |
Nonsense |
13/82 |
- |
1 |
7-21630554-G-T |
c.2188G>T |
p.E730* |
Nonsense |
13/82 |
- |
3 |
7-21630556-A-G |
c.2190A>G |
p.E730= |
Synonymous |
13/82 |
- |
1 |
7-21630559-G-A |
c.2193G>A |
p.V731= |
Synonymous |
13/82 |
- |
1 |
7-21630559-G-C |
c.2193G>C |
p.V731= |
Synonymous |
13/82 |
- |
1 |
7-21630559-G-T |
c.2193G>T |
p.V731= |
Synonymous |
13/82 |
- |
1 |
7-21630578-A-G |
c.2212A>G |
p.K738E |
Missense |
13/82 |
- |
1 |
7-21630580-G-A |
c.2214G>A |
p.K738= |
Synonymous |
13/82 |
- |
1 |
7-21630582-A-C |
c.2216A>C |
p.K739T |
Missense |
13/82 |
- |
1 |
7-21630583-A-C |
c.2217A>C |
p.K739N |
Missense |
13/82 |
- |
1 |
7-21630583-A-T |
c.2217A>T |
p.K739N |
Missense |
13/82 |
- |
1 |
7-21630584-C-A |
c.2218C>A |
p.Q740K |
Missense |
13/82 |
- |
1 |
7-21630586-A-T |
c.2220A>T |
p.Q740H |
Missense |
13/82 |
- |
1 |
7-21630590-ATA-TTT |
c.2224_2226delinsTTT |
p.I742F |
Missense |
13/82 |
- |
2 |
7-21630592-A-G |
c.2226A>G |
p.I742M |
Missense |
13/82 |
- |
1 |
7-21630596-G-C |
c.2230G>C |
p.D744H |
Missense |
13/82 |
- |
1 |
7-21630600-C-A |
c.2234C>A |
p.S745* |
Nonsense |
13/82 |
- |
3 |
7-21630600-CA-TT |
c.2234_2235delinsTT |
p.S745F |
Missense |
13/82 |
- |
1 |
7-21630600-C-G |
c.2234C>G |
p.S745* |
Nonsense |
13/82 |
- |
2 |
7-21630604-T-G |
c.2238T>G |
p.A746= |
Synonymous |
13/82 |
- |
1 |
7-21630605-T-G |
c.2239T>G |
p.L747V |
Missense |
13/82 |
- |
1 |
7-21630608-G-A |
c.2242G>A |
p.A748T |
Missense |
13/82 |
- |
1 |
7-21630610-C-A |
c.2244C>A |
p.A748= |
Synonymous |
13/82 |
- |
1 |
7-21630610-C-G |
c.2244C>G |
p.A748= |
Synonymous |
13/82 |
- |
1 |
7-21630610-C-T |
c.2244C>T |
p.A748= |
Synonymous |
13/82 |
- |
1 |
7-21630612-T-A |
c.2246T>A |
p.I749N |
Missense |
13/82 |
- |
2 |
7-21630618-A-G |
c.2252A>G |
p.K751R |
Missense |
13/82 |
- |
1 |
7-21630619-G-A |
c.2253G>A |
p.K751= |
Synonymous |
13/82 |
- |
1 |
7-21630623-AG-TA |
c.2257_2258delinsTA |
p.R753* |
Nonsense |
13/82 |
- |
1 |
7-21630624-G-A |
c.2258G>A |
p.R753K |
Missense |
13/82 |
- |
5 |
7-21630624-G-T |
c.2258G>T |
p.R753M |
Missense |
13/82 |
- |
1 |
7-21630623-A-C |
c.2257A>C |
p.R753= |
Synonymous |
13/82 |
- |
1 |
7-21630625-G-A |
c.2259G>A |
p.R753= |
Synonymous |
13/82 |
- |
1 |
7-21630631-T-A |
c.2265T>A |
p.T755= |
Synonymous |
13/82 |
- |
1 |
7-21630633-T-A |
c.2267T>A |
p.I756N |
Missense |
13/82 |
- |
1 |
7-21630636-T-A |
c.2270T>A |
p.L757* |
Nonsense |
13/82 |
- |
1 |
7-21630640-G-A |
c.2274G>A |
p.K758= |
Synonymous |
13/82 |
- |
2 |
7-21630641-G-A |
c.2274+1G>A |
- |
IntronicSNV |
- |
13/81 |
1 |
7-21630656-TA-T |
c.2274+24del |
- |
IntronicDeletion |
- |
13/81 |
1 |
7-21630667-T-C |
c.2274+27T>C |
- |
IntronicSNV |
- |
13/81 |
1 |
7-21630788-G-T |
c.2275-15G>T |
- |
IntronicSNV |
- |
13/81 |
1 |
7-21630803-GTACATTGGAAATCTTGACCTTCTTGTGCAAGGGTATAATAAACTCAAACAGACGCTCCT-G |
c.2275_2333del |
p.Y759Gfs*3 |
InFrameDeletion |
14/82 |
- |
2 |
7-21630803-T-A |
c.2275T>A |
p.Y759N |
Missense |
14/82 |
- |
1 |
7-21630806-A-G |
c.2278A>G |
p.I760V |
Missense |
14/82 |
- |
1 |
7-21630807-T-G |
c.2279T>G |
p.I760S |
Missense |
14/82 |
- |
1 |
7-21630810-G-A |
c.2282G>A |
p.G761E |
Missense |
14/82 |
- |
6 |
7-21630813-A-C |
c.2285A>C |
p.N762T |
Missense |
14/82 |
- |
1 |
7-21630815-C-T |
c.2287C>T |
p.L763F |
Missense |
14/82 |
- |
4 |
7-21630817-T-A |
c.2289T>A |
p.L763= |
Synonymous |
14/82 |
- |
1 |
7-21630817-T-C |
c.2289T>C |
p.L763= |
Synonymous |
14/82 |
- |
1 |
7-21630817-T-G |
c.2289T>G |
p.L763= |
Synonymous |
14/82 |
- |
1 |
7-21630820-C-T |
c.2292C>T |
p.D764= |
Synonymous |
14/82 |
- |
1 |
7-21630827-G-C |
c.2299G>C |
p.V767L |
Missense |
14/82 |
- |
1 |
7-21630827-G-T |
c.2299G>T |
p.V767L |
Missense |
14/82 |
- |
1 |
7-21630833-G-A |
c.2305G>A |
p.G769R |
Missense |
14/82 |
- |
1 |
7-21630841-T-C |
c.2313T>C |
p.N771= |
Synonymous |
14/82 |
- |
1 |
7-21630841-T-G |
c.2313T>G |
p.N771K |
Missense |
14/82 |
- |
1 |
7-21630843-A-T |
c.2315A>T |
p.K772I |
Missense |
14/82 |
- |
5 |
7-21630845-C-G |
c.2317C>G |
p.L773V |
Missense |
14/82 |
- |
1 |
7-21630849-A-G |
c.2321A>G |
p.K774R |
Missense |
14/82 |
- |
1 |
7-21630851-C-T |
c.2323C>T |
p.Q775* |
Nonsense |
14/82 |
- |
1 |
7-21630855-C-T |
c.2327C>T |
p.T776M |
Missense |
14/82 |
- |
5 |
7-21630856-G-A |
c.2328G>A |
p.T776= |
Synonymous |
14/82 |
- |
2 |
7-21630856-G-C |
c.2328G>C |
p.T776= |
Synonymous |
14/82 |
- |
1 |
7-21630856-G-T |
c.2328G>T |
p.T776= |
Synonymous |
14/82 |
- |
3 |
7-21630857-C-T |
c.2329C>T |
p.L777F |
Missense |
14/82 |
- |
3 |
7-21630859-C-A |
c.2331C>A |
p.L777= |
Synonymous |
14/82 |
- |
2 |
7-21630860-C-T |
c.2332C>T |
p.L778= |
Synonymous |
14/82 |
- |
1 |
7-21630862-G-A |
c.2334G>A |
p.L778= |
Synonymous |
14/82 |
- |
2 |
7-21630862-G-C |
c.2334G>C |
p.L778= |
Synonymous |
14/82 |
- |
1 |
7-21630862-G-T |
c.2334G>T |
p.L778= |
Synonymous |
14/82 |
- |
1 |
7-21630863-G-C |
c.2335G>C |
p.E779Q |
Missense |
14/82 |
- |
1 |
7-21630863-G-T |
c.2335G>T |
p.E779* |
Nonsense |
14/82 |
- |
2 |
7-21630865-A-G |
c.2337A>G |
p.E779= |
Synonymous |
14/82 |
- |
1 |
7-21630866-G-A |
c.2338G>A |
p.V780I |
Missense |
14/82 |
- |
1 |
7-21630869-G-A |
c.2341G>A |
p.E781K |
Missense |
14/82 |
- |
5 |
7-21630874-C-T |
c.2346C>T |
p.Y782= |
Synonymous |
14/82 |
- |
1 |
7-21630876-C-T |
c.2348C>T |
p.P783L |
Missense |
14/82 |
- |
1 |
7-21630878-C-T |
c.2350C>T |
p.L784= |
Synonymous |
14/82 |
- |
2 |
7-21630880-G-A |
c.2352G>A |
p.L784= |
Synonymous |
14/82 |
- |
2 |
7-21630880-G-C |
c.2352G>C |
p.L784= |
Synonymous |
14/82 |
- |
3 |
7-21630880-G-T |
c.2352G>T |
p.L784= |
Synonymous |
14/82 |
- |
2 |
7-21630883-T-C |
c.2355T>C |
p.I785= |
Synonymous |
14/82 |
- |
1 |
7-21630887-G-A |
c.2359G>A |
p.D787N |
Missense |
14/82 |
- |
1 |
7-21630890-G-A |
c.2362G>A |
p.E788K |
Missense |
14/82 |
- |
1 |
7-21630894-T-C |
c.2366T>C |
p.L789P |
Missense |
14/82 |
- |
1 |
7-21630894-T-G |
c.2366T>G |
p.L789R |
Missense |
14/82 |
- |
2 |
7-21630895-G-A |
c.2367G>A |
p.L789= |
Synonymous |
14/82 |
- |
1 |
7-21630896-A-C |
c.2368A>C |
p.R790= |
Synonymous |
14/82 |
- |
1 |
7-21630898-G-A |
c.2370G>A |
p.R790= |
Synonymous |
14/82 |
- |
1 |
7-21630898-G-T |
c.2370G>T |
p.R790S |
Missense |
14/82 |
- |
2 |
7-21630899-G-T |
c.2371G>T |
p.A791S |
Missense |
14/82 |
- |
1 |
7-21630902-A-T |
c.2374A>T |
p.I792F |
Missense |
14/82 |
- |
1 |
7-21630905-G-T |
c.2377G>T |
p.D793Y |
Missense |
14/82 |
- |
1 |
7-21630907-C-G |
c.2379C>G |
p.D793E |
UnclassifiedSNV |
14/82 |
- |
1 |
7-21630907-C-T |
c.2379C>T |
p.D793= |
Synonymous |
14/82 |
- |
2 |
7-21630908-G-A |
c.2380G>A |
p.E794K |
Missense |
14/82 |
- |
1 |
7-21630908-G-C |
c.2380G>C |
p.E794Q |
Missense |
14/82 |
- |
1 |
7-21630908-G-T |
c.2380G>T |
p.E794* |
Nonsense |
14/82 |
- |
2 |
7-21630910-G-A |
c.2382G>A |
p.E794= |
Synonymous |
14/82 |
- |
1 |
7-21630911-C-A |
c.2383C>A |
p.Q795K |
Missense |
14/82 |
- |
1 |
7-21630915-T-C |
c.2387T>C |
p.L796P |
Missense |
14/82 |
- |
1 |
7-21630916-G-T |
c.2388G>T |
p.L796= |
Synonymous |
14/82 |
- |
2 |
7-21630920-G-T |
c.2392G>T |
p.A798S |
Missense |
14/82 |
- |
1 |
7-21630921-C-G |
c.2393C>G |
p.A798G |
Missense |
14/82 |
- |
1 |
7-21630923-G-A |
c.2395G>A |
p.A799T |
Missense |
14/82 |
- |
1 |
7-21630924-C-T |
c.2396C>T |
p.A799V |
Missense |
14/82 |
- |
1 |
7-21630929-A-G |
c.2401A>G |
p.T801A |
Missense |
14/82 |
- |
1 |
7-21630930-C-T |
c.2402C>T |
p.T801M |
Missense |
14/82 |
- |
4 |
7-21630933-G-A |
c.2405G>A |
p.W802* |
Nonsense |
14/82 |
- |
1 |
7-21630934-G-A |
c.2406G>A |
p.W802* |
Nonsense |
14/82 |
- |
4 |
7-21630935-C-T |
c.2407C>T |
p.L803= |
Synonymous |
14/82 |
- |
1 |
7-21630938-A-T |
c.2410A>T |
p.T804S |
Missense |
14/82 |
- |
1 |
7-21630941-T-C |
c.2413T>C |
p.W805R |
Missense |
14/82 |
- |
1 |
7-21630942-G-A |
c.2414G>A |
p.W805* |
Nonsense |
14/82 |
- |
2 |
7-21630943-G-A |
c.2415G>A |
p.W805* |
Nonsense |
14/82 |
- |
1 |
7-21630947-G-A |
c.2419G>A |
p.D807N |
Missense |
14/82 |
- |
8 |
7-21630947-G-C |
c.2419G>C |
p.D807H |
Missense |
14/82 |
- |
6 |
7-21630949-T-A |
c.2421T>A |
p.D807E |
Missense |
14/82 |
- |
1 |
7-21630949-T-G |
c.2421T>G |
p.D807E |
Missense |
14/82 |
- |
1 |
7-21630951-A-T |
c.2423A>T |
p.D808V |
Missense |
14/82 |
- |
1 |
7-21630952-C-A |
c.2424C>A |
p.D808E |
Missense |
14/82 |
- |
1 |
7-21630954-G-A |
c.2426G>A |
p.C809Y |
Missense |
14/82 |
- |
5 |
7-21630957-G-A |
c.2429G>A |
p.W810* |
Nonsense |
14/82 |
- |
1 |
7-21630957-G-T |
c.2429G>T |
p.W810L |
Missense |
14/82 |
- |
1 |
7-21630960-G-C |
c.2432G>C |
p.G811A |
Missense |
14/82 |
- |
1 |
7-21630964-C-G |
c.2436C>G |
p.Y812* |
Nonsense |
14/82 |
- |
1 |
7-21630966-T-G |
c.2438T>G |
p.I813S |
Missense |
14/82 |
- |
1 |
7-21630967-C-G |
c.2439C>G |
p.I813M |
Missense |
14/82 |
- |
3 |
7-21630968-G-C |
c.2440G>C |
p.E814Q |
Missense |
14/82 |
- |
1 |
7-21630971-A-T |
c.2443A>T |
p.R815W |
Missense |
14/82 |
- |
1 |
7-21630974-G-C |
c.2446G>C |
p.V816L |
Missense |
14/82 |
- |
1 |
7-21630974-G-T |
c.2446G>T |
p.V816L |
Missense |
14/82 |
- |
1 |
7-21630978-G-C |
c.2450G>C |
p.R817T |
Missense |
14/82 |
- |
3 |
7-21630982-A-C |
c.2454A>C |
p.A818= |
Synonymous |
14/82 |
- |
2 |
7-21630982-A-G |
c.2454A>G |
p.A818= |
Synonymous |
14/82 |
- |
22 |
7-21630982-A-T |
c.2454A>T |
p.A818= |
Synonymous |
14/82 |
- |
17 |
7-21630983-G-A |
c.2455G>A |
p.A819T |
Missense |
14/82 |
- |
1 |
7-21630987-C-A |
c.2459C>A |
p.T820K |
Missense |
14/82 |
- |
1 |
7-21630987-C-T |
c.2459C>T |
p.T820M |
Missense |
14/82 |
- |
3 |
7-21630988-G-A |
c.2460G>A |
p.T820= |
Synonymous |
14/82 |
- |
2 |
7-21630988-G-C |
c.2460G>C |
p.T820= |
Synonymous |
14/82 |
- |
2 |
7-21630988-G-T |
c.2460G>T |
p.T820= |
Synonymous |
14/82 |
- |
2 |
7-21630989-TC-AA |
c.2461_2462delinsAA |
p.S821N |
Missense |
14/82 |
- |
1 |
7-21630991-C-T |
c.2463C>T |
p.S821= |
Synonymous |
14/82 |
- |
2 |
7-21630992-G-A |
c.2464G>A |
p.E822K |
Missense |
14/82 |
- |
1 |
7-21630993-A-G |
c.2465A>G |
p.E822G |
Missense |
14/82 |
- |
1 |
7-21631000-G-C |
c.2472G>C |
p.E824D |
Missense |
14/82 |
- |
1 |
7-21631000-G-T |
c.2472G>T |
p.E824D |
Missense |
14/82 |
- |
1 |
7-21631002-A-T |
c.2474A>T |
p.H825L |
Missense |
14/82 |
- |
1 |
7-21631004-AG-CA |
c.2476_2477delinsCA |
p.R826Q |
Missense |
14/82 |
- |
1 |
7-21631004-AG-CT |
c.2476_2477inv |
p.R826L |
Missense |
14/82 |
- |
1 |
7-21631009-T-A |
c.2481T>A |
p.V827= |
Synonymous |
14/82 |
- |
1 |
7-21631009-T-C |
c.2481T>C |
p.V827= |
Synonymous |
14/82 |
- |
1 |
7-21631010-G-A |
c.2482G>A |
p.E828K |
Missense |
14/82 |
- |
2 |
7-21631010-G-C |
c.2482G>C |
p.E828Q |
Missense |
14/82 |
- |
1 |
7-21631013-C-T |
c.2485C>T |
p.R829C |
Missense |
14/82 |
- |
8 |
7-21631014-G-A |
c.2486G>A |
p.R829H |
Missense |
14/82 |
- |
3 |
7-21631015-C-A |
c.2487C>A |
p.R829= |
Synonymous |
14/82 |
- |
1 |
7-21631015-C-G |
c.2487C>G |
p.R829= |
Synonymous |
14/82 |
- |
1 |
7-21631015-C-T |
c.2487C>T |
p.R829= |
Synonymous |
14/82 |
- |
1 |
7-21631016-A-G |
c.2488A>G |
p.T830A |
Missense |
14/82 |
- |
1 |
7-21631019-C-A |
c.2491C>A |
p.Q831K |
Missense |
14/82 |
- |
1 |
7-21631019-C-T |
c.2491C>T |
p.Q831* |
Nonsense |
14/82 |
- |
1 |
7-21631020-A-G |
c.2492A>G |
p.Q831R |
Missense |
14/82 |
- |
1 |
7-21631022-A-G |
c.2494A>G |
p.K832E |
Missense |
14/82 |
- |
1 |
7-21631023-A-T |
c.2495A>T |
p.K832I |
Missense |
14/82 |
- |
1 |
7-21631021-GA-G |
c.2498del |
p.N833Tfs*2 |
Frameshift |
14/82 |
- |
3 |
7-21631026-A-C |
c.2498A>C |
p.N833T |
Missense |
14/82 |
- |
1 |
7-21631027-C-T |
c.2499C>T |
p.N833= |
Synonymous |
14/82 |
- |
6 |
7-21631028-G-T |
c.2500G>T |
p.V834L |
Missense |
14/82 |
- |
1 |
7-21631029-T-C |
c.2501T>C |
p.V834A |
Missense |
14/82 |
- |
1 |
7-21631030-G-A |
c.2502G>A |
p.V834= |
Synonymous |
14/82 |
- |
1 |
7-21631031-A-T |
c.2503A>T |
p.K835* |
Nonsense |
14/82 |
- |
2 |
7-21631036-G-A |
c.2508G>A |
p.V836= |
Synonymous |
14/82 |
- |
1 |
7-21631036-G-C |
c.2508G>C |
p.V836= |
Synonymous |
14/82 |
- |
1 |
7-21631036-G-T |
c.2508G>T |
p.V836= |
Synonymous |
14/82 |
- |
1 |
7-21631037-A-T |
c.2509A>T |
p.I837F |
Missense |
14/82 |
- |
3 |
7-21631039-C-G |
c.2511C>G |
p.I837M |
Missense |
14/82 |
- |
2 |
7-21631040-C-T |
c.2512C>T |
p.Q838* |
Nonsense |
14/82 |
- |
1 |
7-21631042-G-A |
c.2514G>A |
p.Q838= |
Synonymous |
14/82 |
- |
1 |
7-21631042-G-C |
c.2514G>C |
p.Q838H |
Missense |
14/82 |
- |
2 |
7-21631042-G-T |
c.2514G>T |
p.Q838H |
Missense |
14/82 |
- |
2 |
7-21631048-C-T |
c.2520C>T |
p.T840= |
Synonymous |
14/82 |
- |
1 |
7-21631050-T-A |
c.2522T>A |
p.M841K |
Missense |
14/82 |
- |
1 |
7-21631051-G-A |
c.2523G>A |
p.M841I |
Missense |
14/82 |
- |
2 |
7-21631051-G-C |
c.2523G>C |
p.M841I |
Missense |
14/82 |
- |
1 |
7-21631051-G-T |
c.2523G>T |
p.M841I |
Missense |
14/82 |
- |
1 |
7-21631053-G-A |
c.2525G>A |
p.R842K |
Missense |
14/82 |
- |
1 |
7-21631053-G-T |
c.2525G>T |
p.R842M |
Missense |
14/82 |
- |
2 |
7-21631052-A-C |
c.2524A>C |
p.R842= |
Synonymous |
14/82 |
- |
1 |
7-21631054-G-A |
c.2526G>A |
p.R842= |
Synonymous |
14/82 |
- |
1 |
7-21631056-G-A |
c.2528G>A |
p.G843D |
Missense |
14/82 |
- |
3 |
7-21631056-G-C |
c.2528G>C |
p.G843A |
Missense |
14/82 |
- |
1 |
7-21631056-G-T |
c.2528G>T |
p.G843V |
Missense |
14/82 |
- |
2 |
7-21631059-G-T |
c.2531G>T |
p.W844L |
Missense |
14/82 |
- |
1 |
7-21631060-G-A |
c.2532G>A |
p.W844* |
Nonsense |
14/82 |
- |
4 |
7-21631062-C-A |
c.2534C>A |
p.A845D |
Missense |
14/82 |
- |
4 |
7-21631062-C-G |
c.2534C>G |
p.A845G |
Missense |
14/82 |
- |
1 |
7-21631063-C-A |
c.2535C>A |
p.A845= |
Synonymous |
14/82 |
- |
2 |
7-21631063-C-G |
c.2535C>G |
p.A845= |
Synonymous |
14/82 |
- |
1 |
7-21631063-C-T |
c.2535C>T |
p.A845= |
Synonymous |
14/82 |
- |
1 |
7-21631064-AGG-TGT |
c.2536_2538delinsTGT |
p.R846C |
Missense |
14/82 |
- |
1 |
7-21631064-A-T |
c.2536A>T |
p.R846W |
Missense |
14/82 |
- |
1 |
7-21631067-T-C |
c.2539T>C |
p.C847R |
Missense |
14/82 |
- |
2 |
7-21631068-G-A |
c.2540G>A |
p.C847Y |
Missense |
14/82 |
- |
1 |
7-21631068-G-T |
c.2540G>T |
p.C847F |
Missense |
14/82 |
- |
1 |
7-21631070-G-A |
c.2542G>A |
p.V848M |
Missense |
14/82 |
- |
9 |
7-21631070-G-C |
c.2542G>C |
p.V848L |
Missense |
14/82 |
- |
1 |
7-21631070-G-T |
c.2542G>T |
p.V848L |
Missense |
14/82 |
- |
2 |
7-21631072-G-A |
c.2544G>A |
p.V848= |
Synonymous |
14/82 |
- |
4 |
7-21631072-G-C |
c.2544G>C |
p.V848= |
Synonymous |
14/82 |
- |
1 |
7-21631072-G-T |
c.2544G>T |
p.V848= |
Synonymous |
14/82 |
- |
1 |
7-21631079-C-A |
c.2551C>A |
p.P851T |
Missense |
14/82 |
- |
1 |
7-21631079-C-T |
c.2551C>T |
p.P851S |
Missense |
14/82 |
- |
1 |
7-21631080-C-T |
c.2552C>T |
p.P851L |
Missense |
14/82 |
- |
2 |
7-21631082-AG-CT |
c.2554_2555inv |
p.R852L |
Missense |
14/82 |
- |
1 |
7-21631086-G-A |
c.2558G>A |
p.R853K |
Missense |
14/82 |
- |
1 |
7-21631085-A-C |
c.2557A>C |
p.R853= |
Synonymous |
14/82 |
- |
1 |
7-21631087-A-G |
c.2559A>G |
p.R853= |
Synonymous |
14/82 |
- |
1 |
7-21631088-G-A |
c.2560G>A |
p.E854K |
Missense |
14/82 |
- |
1 |
7-21631091-C-T |
c.2563C>T |
p.H855Y |
Missense |
14/82 |
- |
2 |
7-21631095-G-A |
c.2567G>A |
p.R856K |
Missense |
14/82 |
- |
1 |
7-21631097-C-T |
c.2569C>T |
p.R857* |
Nonsense |
14/82 |
- |
6 |
7-21631098-G-A |
c.2570G>A |
p.R857Q |
Missense |
14/82 |
- |
1 |
7-21631103-G-A |
c.2575G>A |
p.A859T |
Missense |
14/82 |
- |
2 |
7-21631106-G-T |
c.2578G>T |
p.A860S |
Missense |
14/82 |
- |
1 |
7-21631107-C-T |
c.2579C>T |
p.A860V |
Missense |
14/82 |
- |
6 |
7-21631112-AC-TT |
c.2584_2585delinsTT |
p.T862F |
Missense |
14/82 |
- |
1 |
7-21631112-A-T |
c.2584A>T |
p.T862S |
Missense |
14/82 |
- |
2 |
7-21631113-CC-TG |
c.2585_2586delinsTG |
p.T862M |
Missense |
14/82 |
- |
1 |
7-21631113-C-G |
c.2585C>G |
p.T862S |
Missense |
14/82 |
- |
2 |
7-21631113-C-T |
c.2585C>T |
p.T862I |
Missense |
14/82 |
- |
2 |
7-21631114-C-T |
c.2586C>T |
p.T862= |
Synonymous |
14/82 |
- |
1 |
7-21631118-G-T |
c.2590G>T |
p.E864* |
Nonsense |
14/82 |
- |
1 |
7-21631120-G-A |
c.2592G>A |
p.E864= |
Synonymous |
14/82 |
- |
1 |
7-21631120-G-T |
c.2592G>T |
p.E864D |
Missense |
14/82 |
- |
1 |
7-21631121-G-C |
c.2593G>C |
p.D865H |
Missense |
14/82 |
- |
1 |
7-21631122-A-G |
c.2594A>G |
p.D865G |
Missense |
14/82 |
- |
1 |
7-21631125-A-G |
c.2597A>G |
p.K866R |
Missense |
14/82 |
- |
1 |
7-21631126-G-A |
c.2598G>A |
p.K866= |
Synonymous |
14/82 |
- |
1 |
7-21631127-G-A |
c.2599G>A |
p.G867S |
Missense |
14/82 |
- |
2 |
7-21631128-G-T |
c.2600G>T |
p.G867V |
Missense |
14/82 |
- |
1 |
7-21631130-G-A |
c.2602G>A |
p.D868N |
Missense |
14/82 |
- |
1 |
7-21631136-T-C |
c.2608T>C |
p.F870L |
Missense |
14/82 |
- |
1 |
7-21631138-T-A |
c.2610T>A |
p.F870L |
Missense |
14/82 |
- |
1 |
7-21631138-T-G |
c.2610T>G |
p.F870L |
Missense |
14/82 |
- |
1 |
7-21631137-T-G |
c.2609T>G |
p.F870C |
Missense |
14/82 |
- |
1 |
7-21631139-A-G |
c.2611A>G |
p.T871A |
Missense |
14/82 |
- |
1 |
7-21631140-AC-A |
c.2612del |
p.T871Kfs*6 |
Frameshift |
14/82 |
- |
2 |
7-21631140-C-A |
c.2612C>A |
p.T871K |
Missense |
14/82 |
- |
1 |
7-21631141-A-C |
c.2613A>C |
p.T871= |
Synonymous |
14/82 |
- |
1 |
7-21631141-A-G |
c.2613A>G |
p.T871= |
Synonymous |
14/82 |
- |
1 |
7-21631141-A-T |
c.2613A>T |
p.T871= |
Synonymous |
14/82 |
- |
1 |
7-21631142-A-G |
c.2614A>G |
p.K872E |
Missense |
14/82 |
- |
1 |
7-21631144-A-AT |
c.2616_2617insT |
p.K873* |
Nonsense |
14/82 |
- |
2 |
7-21631140-CA-C |
c.2619del |
p.K873Nfs*4 |
Frameshift |
14/82 |
- |
5 |
7-21631147-A-G |
c.2619A>G |
p.K873= |
Synonymous |
14/82 |
- |
1 |
7-21631149-A-G |
c.2621A>G |
p.Y874C |
Missense |
14/82 |
- |
1 |
7-21631154-TT-CC |
c.2626_2627delinsCC |
p.L876P |
Missense |
14/82 |
- |
1 |
7-21631157-A-C |
c.2629A>C |
p.I877L |
Missense |
14/82 |
- |
1 |
7-21631158-T-G |
c.2630T>G |
p.I877S |
Missense |
14/82 |
- |
2 |
7-21631159-C-T |
c.2631C>T |
p.I877= |
Synonymous |
14/82 |
- |
1 |
7-21631162-A-C |
c.2634A>C |
p.Q878H |
Missense |
14/82 |
- |
1 |
7-21631162-A-G |
c.2634A>G |
p.Q878= |
Synonymous |
14/82 |
- |
1 |
7-21631162-A-T |
c.2634A>T |
p.Q878H |
Missense |
14/82 |
- |
1 |
7-21631164-G-A |
c.2636G>A |
p.G879E |
Missense |
14/82 |
- |
4 |
7-21631168-T-A |
c.2640T>A |
p.D880E |
Missense |
14/82 |
- |
1 |
7-21631171-C-G |
c.2643C>G |
p.G881= |
Synonymous |
14/82 |
- |
3 |
7-21631173-G-T |
c.2645G>T |
p.C882F |
Missense |
14/82 |
- |
1 |
7-21631174-C-T |
c.2646C>T |
p.C882= |
Synonymous |
14/82 |
- |
1 |
7-21631177-G-C |
c.2649G>C |
p.K883N |
Missense |
14/82 |
- |
1 |
7-21631177-G-T |
c.2649G>T |
p.K883N |
Missense |
14/82 |
- |
1 |
7-21631180-C-G |
c.2652C>G |
p.I884M |
Missense |
14/82 |
- |
1 |
7-21631181-C-A |
c.2653C>A |
p.H885N |
Missense |
14/82 |
- |
1 |
7-21631181-C-T |
c.2653C>T |
p.H885Y |
Missense |
14/82 |
- |
1 |
7-21631184-A-G |
c.2656A>G |
p.N886D |
Missense |
14/82 |
- |
1 |
7-21631185-A-C |
c.2657A>C |
p.N886T |
Missense |
14/82 |
- |
1 |
7-21631185-A-G |
c.2657A>G |
p.N886S |
Missense |
14/82 |
- |
1 |
7-21631189-G-C |
c.2661G>C |
p.L887F |
Missense |
14/82 |
- |
1 |
7-21631189-G-T |
c.2661G>T |
p.L887F |
Missense |
14/82 |
- |
1 |
7-21631190-G-A |
c.2662G>A |
p.V888I |
Missense |
14/82 |
- |
1 |
7-21631190-G-T |
c.2662G>T |
p.V888F |
Missense |
14/82 |
- |
1 |
7-21631193-G-A |
c.2665G>A |
p.E889K |
Missense |
14/82 |
- |
1 |
7-21631193-G-T |
c.2665G>T |
p.E889* |
Nonsense |
14/82 |
- |
2 |
7-21631195-G-C |
c.2667G>C |
p.E889D |
Missense |
14/82 |
- |
1 |
7-21631195-G-T |
c.2667G>T |
p.E889D |
Missense |
14/82 |
- |
1 |
7-21632501-GA-G |
c.2667+1315del |
- |
IntronicDeletion |
- |
14/81 |
1 |
7-21635462-G-A |
c.2668-3943G>A |
- |
IntronicSNV |
- |
14/81 |
1 |
7-21635521-T-G |
c.2668-3884T>G |
- |
IntronicSNV |
- |
14/81 |
2 |
7-21635600-G-T |
c.2668-3805G>T |
- |
IntronicSNV |
- |
14/81 |
2 |
7-21639405-G-A |
c.2668G>A |
p.E890K |
Missense |
15/82 |
- |
1 |
7-21639405-G-C |
c.2668G>C |
p.E890Q |
Missense |
15/82 |
- |
1 |
7-21639406-A-G |
c.2669A>G |
p.E890G |
Missense |
15/82 |
- |
1 |
7-21639411-AG-CA |
c.2674_2675delinsCA |
p.R892Q |
Missense |
15/82 |
- |
1 |
7-21639411-A-T |
c.2674A>T |
p.R892W |
Missense |
15/82 |
- |
1 |
7-21639414-A-T |
c.2677A>T |
p.K893* |
Nonsense |
15/82 |
- |
1 |
7-21639417-C-A |
c.2680C>A |
p.L894I |
Missense |
15/82 |
- |
1 |
7-21639419-C-A |
c.2682C>A |
p.L894= |
Synonymous |
15/82 |
- |
3 |
7-21639419-C-G |
c.2682C>G |
p.L894= |
Synonymous |
15/82 |
- |
3 |
7-21639419-C-T |
c.2682C>T |
p.L894= |
Synonymous |
15/82 |
- |
3 |
7-21639420-T-C |
c.2683T>C |
p.F895L |
Missense |
15/82 |
- |
1 |
7-21639422-C-A |
c.2685C>A |
p.F895L |
Missense |
15/82 |
- |
1 |
7-21639422-C-G |
c.2685C>G |
p.F895L |
Missense |
15/82 |
- |
1 |
7-21639422-C-CT |
c.2685_2686insT |
p.K896* |
Nonsense |
15/82 |
- |
1 |
7-21639422-C-T |
c.2685C>T |
p.F895= |
Synonymous |
15/82 |
- |
1 |
7-21639426-G-C |
c.2689G>C |
p.A897P |
Missense |
15/82 |
- |
3 |
7-21639427-C-A |
c.2690C>A |
p.A897D |
Missense |
15/82 |
- |
2 |
7-21639430-A-G |
c.2693A>G |
p.N898S |
Missense |
15/82 |
- |
2 |
7-21639432-C-T |
c.2695C>T |
p.P899S |
Missense |
15/82 |
- |
5 |
7-21639436-C-G |
c.2699C>G |
p.S900C |
Missense |
15/82 |
- |
1 |
7-21639438-C-G |
c.2701C>G |
p.L901V |
Missense |
15/82 |
- |
1 |
7-21639439-T-C |
c.2702T>C |
p.L901P |
Missense |
15/82 |
- |
1 |
7-21639445-C-T |
c.2708C>T |
p.T903I |
Missense |
15/82 |
- |
1 |
7-21639444-AC-A |
c.2709del |
p.W904Gfs*5 |
Frameshift |
15/82 |
- |
1 |
7-21639448-G-A |
c.2711G>A |
p.W904* |
Nonsense |
15/82 |
- |
1 |
7-21639449-G-A |
c.2712G>A |
p.W904* |
Nonsense |
15/82 |
- |
1 |
7-21639453-A-G |
c.2716A>G |
p.I906V |
Missense |
15/82 |
- |
1 |
7-21639460-T-C |
c.2723T>C |
p.V908A |
Missense |
15/82 |
- |
1 |
7-21639466-T-G |
c.2729T>G |
p.F910C |
Missense |
15/82 |
- |
1 |
7-21639469-T-C |
c.2732T>C |
p.I911T |
Missense |
15/82 |
- |
4 |
7-21639471-G-T |
c.2734G>T |
p.D912Y |
Missense |
15/82 |
- |
1 |
7-21639473-C-T |
c.2736C>T |
p.D912= |
Synonymous |
15/82 |
- |
3 |
7-21639474-G-A |
c.2737G>A |
p.D913N |
Missense |
15/82 |
- |
1 |
7-21639477-CA-C |
c.2740del |
p.I914Lfs*10 |
Frameshift |
15/82 |
- |
1 |
7-21639478-T-G |
c.2741T>G |
p.I914S |
Missense |
15/82 |
- |
1 |
7-21639480-GTG-ATC |
c.2743_2745delinsATC |
p.V915I |
Missense |
15/82 |
- |
1 |
7-21639487-A-T |
c.2750A>T |
p.E917V |
Missense |
15/82 |
- |
6 |
7-21639490-G-T |
c.2753G>T |
p.G918V |
Missense |
15/82 |
- |
4 |
7-21639491-C-A |
c.2754C>A |
p.G918= |
Synonymous |
15/82 |
- |
2 |
7-21639491-C-CA |
c.2754_2755insA |
p.F919Ifs*36 |
Frameshift |
15/82 |
- |
1 |
7-21639491-C-G |
c.2754C>G |
p.G918= |
Synonymous |
15/82 |
- |
2 |
7-21639491-C-T |
c.2754C>T |
p.G918= |
Synonymous |
15/82 |
- |
2 |
7-21639492-T-C |
c.2755T>C |
p.F919L |
Missense |
15/82 |
- |
2 |
7-21639491-C-CT |
c.2760dup |
p.Q921Sfs*34 |
Frameshift |
15/82 |
- |
2 |
7-21639501-G-A |
c.2764G>A |
p.A922T |
Missense |
15/82 |
- |
1 |
7-21639501-G-T |
c.2764G>T |
p.A922S |
Missense |
15/82 |
- |
3 |
7-21639504-A-G |
c.2767A>G |
p.I923V |
Missense |
15/82 |
- |
1 |
7-21639507-A-G |
c.2770A>G |
p.M924V |
Missense |
15/82 |
- |
1 |
7-21639509-G-A |
c.2772G>A |
p.M924I |
Missense |
15/82 |
- |
4 |
7-21639509-G-C |
c.2772G>C |
p.M924I |
Missense |
15/82 |
- |
1 |
7-21639509-G-T |
c.2772G>T |
p.M924I |
Missense |
15/82 |
- |
1 |
7-21639510-C-G |
c.2773C>G |
p.H925D |
Missense |
15/82 |
- |
1 |
7-21639511-A-T |
c.2774A>T |
p.H925L |
Missense |
15/82 |
- |
1 |
7-21639512-C-T |
c.2775C>T |
p.H925= |
Synonymous |
15/82 |
- |
5 |
7-21639513-G-A |
c.2776G>A |
p.D926N |
Missense |
15/82 |
- |
4 |
7-21639515-C-A |
c.2778C>A |
p.D926E |
Missense |
15/82 |
- |
2 |
7-21639515-C-G |
c.2778C>G |
p.D926E |
Missense |
15/82 |
- |
2 |
7-21639519-G-T |
c.2782G>T |
p.D928Y |
Missense |
15/82 |
- |
1 |
7-21639520-A-G |
c.2783A>G |
p.D928G |
Missense |
15/82 |
- |
1 |
7-21639520-A-T |
c.2783A>T |
p.D928V |
Missense |
15/82 |
- |
3 |
7-21639522-T-A |
c.2785T>A |
p.F929I |
Missense |
15/82 |
- |
2 |
7-21639524-C-G |
c.2787C>G |
p.F929L |
Missense |
15/82 |
- |
1 |
7-21639524-C-T |
c.2787C>T |
p.F929= |
Synonymous |
15/82 |
- |
1 |
7-21639525-T-C |
c.2788T>C |
p.F930L |
Missense |
15/82 |
- |
1 |
7-21639527-T-A |
c.2790T>A |
p.F930L |
Missense |
15/82 |
- |
1 |
7-21639527-T-G |
c.2790T>G |
p.F930L |
Missense |
15/82 |
- |
1 |
7-21639528-C-G |
c.2791C>G |
p.L931V |
Missense |
15/82 |
- |
1 |
7-21639529-T-C |
c.2792T>C |
p.L931P |
Missense |
15/82 |
- |
1 |
7-21639528-C-T |
c.2791C>T |
p.L931= |
Synonymous |
15/82 |
- |
1 |
7-21639530-G-A |
c.2793G>A |
p.L931= |
Synonymous |
15/82 |
- |
1 |
7-21639530-G-C |
c.2793G>C |
p.L931= |
Synonymous |
15/82 |
- |
1 |
7-21639530-G-T |
c.2793G>T |
p.L931= |
Synonymous |
15/82 |
- |
1 |
7-21639531-A-C |
c.2794A>C |
p.K932Q |
Missense |
15/82 |
- |
1 |
7-21639532-A-C |
c.2795A>C |
p.K932T |
Missense |
15/82 |
- |
1 |
7-21639535-A-T |
c.2798A>T |
p.N933I |
Missense |
15/82 |
- |
1 |
7-21639537-A-G |
c.2800A>G |
p.T934A |
Missense |
15/82 |
- |
1 |
7-21639538-C-A |
c.2801C>A |
p.T934K |
Missense |
15/82 |
- |
1 |
7-21639539-A-C |
c.2802A>C |
p.T934= |
Synonymous |
15/82 |
- |
2 |
7-21639539-A-G |
c.2802A>G |
p.T934= |
Synonymous |
15/82 |
- |
3 |
7-21639539-A-T |
c.2802A>T |
p.T934= |
Synonymous |
15/82 |
- |
2 |
7-21639540-G-A |
c.2803G>A |
p.E935K |
Missense |
15/82 |
- |
1 |
7-21639542-G-C |
c.2805G>C |
p.E935D |
Missense |
15/82 |
- |
1 |
7-21639542-G-T |
c.2805G>T |
p.E935D |
Missense |
15/82 |
- |
1 |
7-21639544-A-C |
c.2807A>C |
p.K936T |
Missense |
15/82 |
- |
1 |
7-21639545-A-C |
c.2808A>C |
p.K936N |
Missense |
15/82 |
- |
1 |
7-21639545-A-G |
c.2808A>G |
p.K936= |
Synonymous |
15/82 |
- |
1 |
7-21639545-A-T |
c.2808A>T |
p.K936N |
Missense |
15/82 |
- |
1 |
7-21639550-T-C |
c.2813T>C |
p.L938S |
Missense |
15/82 |
- |
1 |
7-21639550-T-G |
c.2813T>G |
p.L938W |
Missense |
15/82 |
- |
1 |
7-21639551-G-C |
c.2814G>C |
p.L938F |
Missense |
15/82 |
- |
2 |
7-21639551-G-T |
c.2814G>T |
p.L938F |
Missense |
15/82 |
- |
3 |
7-21639556-C-T |
c.2819C>T |
p.P940L |
Missense |
15/82 |
- |
3 |
7-21639557-G-A |
c.2820G>A |
p.P940= |
Synonymous |
15/82 |
- |
4 |
7-21639557-G-C |
c.2820G>C |
p.P940= |
Synonymous |
15/82 |
- |
2 |
7-21639557-G-T |
c.2820G>T |
p.P940= |
Synonymous |
15/82 |
- |
3 |
7-21639559-C-A |
c.2822C>A |
p.A941E |
Missense |
15/82 |
- |
1 |
7-21639560-A-C |
c.2823A>C |
p.A941= |
Synonymous |
15/82 |
- |
1 |
7-21639560-A-G |
c.2823A>G |
p.A941= |
Synonymous |
15/82 |
- |
1 |
7-21639560-A-T |
c.2823A>T |
p.A941= |
Synonymous |
15/82 |
- |
1 |
7-21639561-C-A |
c.2824C>A |
p.P942T |
Missense |
15/82 |
- |
2 |
7-21639561-C-T |
c.2824C>T |
p.P942S |
Missense |
15/82 |
- |
1 |
7-21639562-C-T |
c.2825C>T |
p.P942L |
Missense |
15/82 |
- |
1 |
7-21639563-G-A |
c.2826G>A |
p.P942= |
Synonymous |
15/82 |
- |
6 |
7-21639563-G-C |
c.2826G>C |
p.P942= |
Synonymous |
15/82 |
- |
4 |
7-21639563-G-T |
c.2826G>T |
p.P942= |
Synonymous |
15/82 |
- |
4 |
7-21639564-T-C |
c.2827T>C |
p.F943L |
Missense |
15/82 |
- |
1 |
7-21639566-T-A |
c.2829T>A |
p.F943L |
Missense |
15/82 |
- |
1 |
7-21639566-T-G |
c.2829T>G |
p.F943L |
Missense |
15/82 |
- |
1 |
7-21639563-G-GT |
c.2832dup |
p.Q945Sfs*10 |
Frameshift |
15/82 |
- |
2 |
7-21639570-C-T |
c.2833C>T |
p.Q945* |
Nonsense |
15/82 |
- |
3 |
7-21639570-TC-T |
c.2833del |
p.Q945Kfs*4 |
Frameshift |
15/82 |
- |
2 |
7-21639572-A-G |
c.2835A>G |
p.Q945= |
Synonymous |
15/82 |
- |
4 |
7-21639573-G-A |
c.2836G>A |
p.A946T |
Missense |
15/82 |
- |
1 |
7-21639573-G-C |
c.2836G>C |
p.A946P |
Missense |
15/82 |
- |
1 |
7-21639574-C-A |
c.2837C>A |
p.A946E |
Missense |
15/82 |
- |
1 |
7-21639576-C-G |
c.2839C>G |
p.Q947E |
Missense |
15/82 |
- |
1 |
7-21639577-A-T |
c.2840A>T |
p.Q947L |
Missense |
15/82 |
- |
3 |
7-21639578-A-G |
c.2841A>G |
p.Q947= |
Synonymous |
15/82 |
- |
1 |
7-21639576-CA-C |
c.2842del |
p.M948* |
Frameshift |
15/82 |
- |
1 |
7-21639581-G-A |
c.2844G>A |
p.M948I |
Missense |
15/82 |
- |
2 |
7-21639581-G-C |
c.2844G>C |
p.M948I |
Missense |
15/82 |
- |
2 |
7-21639581-G-T |
c.2844G>T |
p.M948I |
Missense |
15/82 |
- |
2 |
7-21639582-A-G |
c.2845A>G |
p.I949V |
Missense |
15/82 |
- |
1 |
7-21639584-C-T |
c.2847C>T |
p.I949= |
Synonymous |
15/82 |
- |
1 |
7-21639587-G-T |
c.2850G>T |
p.L950F |
Missense |
15/82 |
- |
1 |
7-21639591-C-T |
c.2854C>T |
p.P952S |
Missense |
15/82 |
- |
3 |
7-21639592-C-T |
c.2855C>T |
p.P952L |
Missense |
15/82 |
- |
1 |
7-21639594-C-T |
c.2857C>T |
p.P953S |
Missense |
15/82 |
- |
4 |
7-21639596-T-G |
c.2859T>G |
p.P953= |
Synonymous |
15/82 |
- |
1 |
7-21639597-G-A |
c.2860G>A |
p.E954K |
Missense |
15/82 |
- |
1 |
7-21639598-A-C |
c.2861A>C |
p.E954A |
Missense |
15/82 |
- |
1 |
7-21639599-G-A |
c.2862G>A |
p.E954= |
Synonymous |
15/82 |
- |
2 |
7-21639600-A-T |
c.2863A>T |
p.I955F |
Missense |
15/82 |
- |
1 |
7-21639608-TA-T |
c.2874del |
p.K958Nfs*4 |
Frameshift |
15/82 |
- |
1 |
7-21639611-A-C |
c.2874A>C |
p.K958N |
Missense |
15/82 |
- |
1 |
7-21639612-C-T |
c.2875C>T |
p.P959S |
Missense |
15/82 |
- |
1 |
7-21639613-C-T |
c.2876C>T |
p.P959L |
Missense |
15/82 |
- |
3 |
7-21639615-T-A |
c.2878T>A |
p.S960T |
Missense |
15/82 |
- |
1 |
7-21639617-C-T |
c.2880C>T |
p.S960= |
Synonymous |
15/82 |
- |
1 |
7-21639618-C-G |
c.2881C>G |
p.L961V |
Missense |
15/82 |
- |
6 |
7-21639623-C-T |
c.2886C>T |
p.D962= |
Synonymous |
15/82 |
- |
1 |
7-21639624-A-G |
c.2887A>G |
p.R963G |
Missense |
15/82 |
- |
2 |
7-21639624-A-T |
c.2887A>T |
p.R963* |
Nonsense |
15/82 |
- |
1 |
7-21639627-G-A |
c.2890G>A |
p.E964K |
Missense |
15/82 |
- |
5 |
7-21639631-C-A |
c.2894C>A |
p.A965D |
Missense |
15/82 |
- |
1 |
7-21639634-G-A |
c.2897G>A |
p.G966E |
Missense |
15/82 |
- |
1 |
7-21639635-G-A |
c.2898G>A |
p.G966= |
Synonymous |
15/82 |
- |
2 |
7-21639635-G-C |
c.2898G>C |
p.G966= |
Synonymous |
15/82 |
- |
1 |
7-21639635-G-T |
c.2898G>T |
p.G966= |
Synonymous |
15/82 |
- |
1 |
7-21639636-G-A |
c.2899G>A |
p.D967N |
Missense |
15/82 |
- |
1 |
7-21639636-G-T |
c.2899G>T |
p.D967Y |
Missense |
15/82 |
- |
1 |
7-21639640-G-A |
c.2903G>A |
p.G968D |
Missense |
15/82 |
- |
1 |
7-21639641-C-T |
c.2904C>T |
p.G968= |
Synonymous |
15/82 |
- |
1 |
7-21639644-C-G |
c.2907C>G |
p.F969L |
Missense |
15/82 |
- |
1 |
7-21639644-C-T |
c.2907C>T |
p.F969= |
Synonymous |
15/82 |
- |
2 |
7-21639646-A-G |
c.2909A>G |
p.Y970C |
Missense |
15/82 |
- |
3 |
7-21639649-A-G |
c.2912A>G |
p.D971G |
Missense |
15/82 |
- |
4 |
7-21639650-T-A |
c.2913T>A |
p.D971E |
Missense |
15/82 |
- |
3 |
7-21639650-T-G |
c.2913T>G |
p.D971E |
Missense |
15/82 |
- |
2 |
7-21639654-GTA-TTT |
c.2917_2919delinsTTT |
p.V973F |
Missense |
15/82 |
- |
1 |
7-21639655-T-C |
c.2918T>C |
p.V973A |
Missense |
15/82 |
- |
1 |
7-21639657-G-T |
c.2920G>T |
p.E974* |
Nonsense |
15/82 |
- |
1 |
7-21639660-G-A |
c.2923G>A |
p.E975K |
Missense |
15/82 |
- |
1 |
7-21639660-G-C |
c.2923G>C |
p.E975Q |
Missense |
15/82 |
- |
2 |
7-21639660-G-T |
c.2923G>T |
p.E975* |
Nonsense |
15/82 |
- |
2 |
7-21639663-A-G |
c.2926A>G |
p.M976V |
Missense |
15/82 |
- |
1 |
7-21639665-G-A |
c.2928G>A |
p.M976I |
Missense |
15/82 |
- |
1 |
7-21639665-G-C |
c.2928G>C |
p.M976I |
Missense |
15/82 |
- |
1 |
7-21639665-G-T |
c.2928G>T |
p.M976I |
Missense |
15/82 |
- |
2 |
7-21639669-T-C |
c.2932T>C |
p.C978R |
Missense |
15/82 |
- |
1 |
7-21639669-T-G |
c.2932T>G |
p.C978G |
Missense |
15/82 |
- |
2 |
7-21639670-G-A |
c.2933G>A |
p.C978Y |
Missense |
15/82 |
- |
1 |
7-21639672-A-G |
c.2935A>G |
p.N979D |
Missense |
15/82 |
- |
3 |
7-21639673-A-T |
c.2936A>T |
p.N979I |
Missense |
15/82 |
- |
1 |
7-21639675-A-G |
c.2938A>G |
p.S980G |
Missense |
15/82 |
- |
1 |
7-21639676-G-A |
c.2939G>A |
p.S980N |
Missense |
15/82 |
- |
1 |
7-21639679-T-A |
c.2942T>A |
p.F981Y |
Missense |
15/82 |
- |
2 |
7-21639681-AGA-TGT |
c.2944_2946delinsTGT |
p.R982C |
Missense |
15/82 |
- |
1 |
7-21639685-T-A |
c.2948T>A |
p.M983K |
Missense |
15/82 |
- |
1 |
7-21639685-T-G |
c.2948T>G |
p.M983R |
Missense |
15/82 |
- |
1 |
7-21639687-TC-GG |
c.2950_2951delinsGG |
p.S984G |
Missense |
15/82 |
- |
1 |
7-21639688-C-T |
c.2951C>T |
p.S984F |
Missense |
15/82 |
- |
1 |
7-21639690-G-T |
c.2953G>T |
p.A985S |
Missense |
15/82 |
- |
1 |
7-21639692-C-A |
c.2955C>A |
p.A985= |
Synonymous |
15/82 |
- |
1 |
7-21639692-C-G |
c.2955C>G |
p.A985= |
Synonymous |
15/82 |
- |
1 |
7-21639692-C-T |
c.2955C>T |
p.A985= |
Synonymous |
15/82 |
- |
1 |
7-21639693-C-G |
c.2956C>G |
p.Q986E |
Missense |
15/82 |
- |
8 |
7-21639695-G-C |
c.2958G>C |
p.Q986H |
Missense |
15/82 |
- |
1 |
7-21639695-G-T |
c.2958G>T |
p.Q986H |
Missense |
15/82 |
- |
2 |
7-21639698-G-A |
c.2961G>A |
p.M987I |
Missense |
15/82 |
- |
1 |
7-21639700-A-G |
c.2963A>G |
p.N988S |
Missense |
15/82 |
- |
5 |
7-21639703-G-A |
c.2966G>A |
p.R989Q |
Missense |
15/82 |
- |
1 |
7-21639703-G-T |
c.2966G>T |
p.R989L |
Missense |
15/82 |
- |
1 |
7-21639705-A-C |
c.2968A>C |
p.I990L |
Missense |
15/82 |
- |
1 |
7-21639705-A-G |
c.2968A>G |
p.I990V |
Missense |
15/82 |
- |
1 |
7-21639706-T-C |
c.2969T>C |
p.I990T |
Missense |
15/82 |
- |
1 |
7-21639713-A-C |
c.2976A>C |
p.T992= |
Synonymous |
15/82 |
- |
1 |
7-21639713-A-G |
c.2976A>G |
p.T992= |
Synonymous |
15/82 |
- |
1 |
7-21639713-A-T |
c.2976A>T |
p.T992= |
Synonymous |
15/82 |
- |
1 |
7-21639716-C-T |
c.2979C>T |
p.H993= |
Synonymous |
15/82 |
- |
2 |
7-21639727-A-T |
c.2990A>T |
p.K997I |
Missense |
15/82 |
- |
1 |
7-21639729-A-C |
c.2992A>C |
p.N998H |
Missense |
15/82 |
- |
1 |
7-21639729-A-G |
c.2992A>G |
p.N998D |
Missense |
15/82 |
- |
1 |
7-21639730-A-G |
c.2993A>G |
p.N998S |
Missense |
15/82 |
- |
1 |
7-21639732-T-A |
c.2995T>A |
p.Y999N |
Missense |
15/82 |
- |
1 |
7-21639738-G-A |
c.3000+1G>A |
- |
IntronicSNV |
- |
15/81 |
1 |
7-21639801-A-G |
c.3000+64A>G |
- |
IntronicSNV |
- |
15/81 |
2 |
7-21639818-T-A |
c.3000+81T>A |
- |
IntronicSNV |
- |
15/81 |
1 |
7-21639818-T-C |
c.3000+81T>C |
- |
IntronicSNV |
- |
15/81 |
3 |
7-21639835-T-C |
c.3000+98T>C |
- |
IntronicSNV |
- |
15/81 |
2 |
7-21640295-A-G |
c.3002A>G |
p.N1001S |
Missense |
16/82 |
- |
3 |
7-21640297-G-A |
c.3004G>A |
p.D1002N |
Missense |
16/82 |
- |
1 |
7-21640299-T-A |
c.3006T>A |
p.D1002E |
Missense |
16/82 |
- |
1 |
7-21640299-T-C |
c.3006T>C |
p.D1002= |
Synonymous |
16/82 |
- |
1 |
7-21640301-T-A |
c.3008T>A |
p.M1003K |
Missense |
16/82 |
- |
1 |
7-21640303-G-A |
c.3010G>A |
p.D1004N |
Missense |
16/82 |
- |
2 |
7-21640303-G-C |
c.3010G>C |
p.D1004H |
Missense |
16/82 |
- |
6 |
7-21640303-G-T |
c.3010G>T |
p.D1004Y |
Missense |
16/82 |
- |
5 |
7-21640308-C-A |
c.3015C>A |
p.N1005K |
Missense |
16/82 |
- |
3 |
7-21640312-T-G |
c.3019T>G |
p.L1007V |
Missense |
16/82 |
- |
1 |
7-21640313-T-A |
c.3020T>A |
p.L1007* |
Nonsense |
16/82 |
- |
1 |
7-21640313-T-G |
c.3020T>G |
p.L1007* |
Nonsense |
16/82 |
- |
3 |
7-21640314-A-C |
c.3021A>C |
p.L1007F |
Missense |
16/82 |
- |
1 |
7-21640314-A-T |
c.3021A>T |
p.L1007F |
Missense |
16/82 |
- |
2 |
7-21640316-G-C |
c.3023G>C |
p.G1008A |
Missense |
16/82 |
- |
1 |
7-21640318-C-G |
c.3025C>G |
p.L1009V |
Missense |
16/82 |
- |
1 |
7-21640319-T-A |
c.3026T>A |
p.L1009Q |
Missense |
16/82 |
- |
1 |
7-21640318-C-T |
c.3025C>T |
p.L1009= |
Synonymous |
16/82 |
- |
1 |
7-21640320-G-A |
c.3027G>A |
p.L1009= |
Synonymous |
16/82 |
- |
1 |
7-21640320-G-C |
c.3027G>C |
p.L1009= |
Synonymous |
16/82 |
- |
1 |
7-21640320-G-T |
c.3027G>T |
p.L1009= |
Synonymous |
16/82 |
- |
1 |
7-21640321-G-A |
c.3028G>A |
p.A1010T |
Missense |
16/82 |
- |
1 |
7-21640323-A-C |
c.3030A>C |
p.A1010= |
Synonymous |
16/82 |
- |
1 |
7-21640323-A-G |
c.3030A>G |
p.A1010= |
Synonymous |
16/82 |
- |
2 |
7-21640323-A-T |
c.3030A>T |
p.A1010= |
Synonymous |
16/82 |
- |
1 |
7-21640328-T-C |
c.3035T>C |
p.V1012A |
Missense |
16/82 |
- |
1 |
7-21640333-C-G |
c.3040C>G |
p.Q1014E |
Missense |
16/82 |
- |
1 |
7-21640336-G-A |
c.3043G>A |
p.E1015K |
Missense |
16/82 |
- |
2 |
7-21640338-G-C |
c.3045G>C |
p.E1015D |
Missense |
16/82 |
- |
3 |
7-21640338-G-T |
c.3045G>T |
p.E1015D |
Missense |
16/82 |
- |
6 |
7-21640342-A-T |
c.3049A>T |
p.M1017L |
Missense |
16/82 |
- |
1 |
7-21640344-G-A |
c.3051G>A |
p.M1017I |
Missense |
16/82 |
- |
1 |
7-21640344-G-C |
c.3051G>C |
p.M1017I |
Missense |
16/82 |
- |
1 |
7-21640344-G-T |
c.3051G>T |
p.M1017I |
Missense |
16/82 |
- |
2 |
7-21640347-C-T |
c.3054C>T |
p.N1018= |
Synonymous |
16/82 |
- |
1 |
7-21640351-G-C |
c.3058G>C |
p.V1020L |
Missense |
16/82 |
- |
2 |
7-21640352-T-C |
c.3059T>C |
p.V1020A |
Missense |
16/82 |
- |
1 |
7-21640356-G-A |
c.3063G>A |
p.V1021= |
Synonymous |
16/82 |
- |
2 |
7-21640356-G-C |
c.3063G>C |
p.V1021= |
Synonymous |
16/82 |
- |
1 |
7-21640356-G-T |
c.3063G>T |
p.V1021= |
Synonymous |
16/82 |
- |
1 |
7-21640361-T-C |
c.3068T>C |
p.V1023A |
Missense |
16/82 |
- |
26 |
7-21640362-C-A |
c.3069C>A |
p.V1023= |
Synonymous |
16/82 |
- |
2 |
7-21640362-C-G |
c.3069C>G |
p.V1023= |
Synonymous |
16/82 |
- |
2 |
7-21640362-C-T |
c.3069C>T |
p.V1023= |
Synonymous |
16/82 |
- |
2 |
7-21640363-A-C |
c.3070A>C |
p.I1024L |
Missense |
16/82 |
- |
1 |
7-21640365-C-A |
c.3072C>A |
p.I1024= |
Synonymous |
16/82 |
- |
1 |
7-21640365-C-T |
c.3072C>T |
p.I1024= |
Synonymous |
16/82 |
- |
1 |
7-21640370-AA-TG |
c.3077_3078delinsTG |
p.K1026M |
Missense |
16/82 |
- |
1 |
7-21640372-G-A |
c.3079G>A |
p.V1027I |
Missense |
16/82 |
- |
1 |
7-21640378-G-C |
c.3085G>C |
p.D1029H |
Missense |
16/82 |
- |
1 |
7-21640383-C-T |
c.3090C>T |
p.F1030= |
Synonymous |
16/82 |
- |
2 |
7-21640385-GA-TG |
c.3092_3093delinsTG |
p.R1031M |
Missense |
16/82 |
- |
1 |
7-21640391-C-T |
c.3098C>T |
p.T1033I |
Missense |
16/82 |
- |
2 |
7-21640392-C-T |
c.3099C>T |
p.T1033= |
Synonymous |
16/82 |
- |
2 |
7-21640393-CT-TC |
c.3100_3101delinsTC |
p.L1034S |
Missense |
16/82 |
- |
2 |
7-21640393-C-T |
c.3100C>T |
p.L1034= |
Synonymous |
16/82 |
- |
1 |
7-21640395-G-A |
c.3102G>A |
p.L1034= |
Synonymous |
16/82 |
- |
1 |
7-21640395-G-C |
c.3102G>C |
p.L1034= |
Synonymous |
16/82 |
- |
1 |
7-21640395-G-T |
c.3102G>T |
p.L1034= |
Synonymous |
16/82 |
- |
1 |
7-21640396-G-A |
c.3103G>A |
p.E1035K |
Missense |
16/82 |
- |
1 |
7-21640398-G-A |
c.3105G>A |
p.E1035= |
Synonymous |
16/82 |
- |
1 |
7-21640398-GACCCACACTT-G |
c.3109_3118del |
p.H1037Sfs*10 |
Frameshift |
16/82 |
- |
1 |
7-21640402-C-A |
c.3109C>A |
p.H1037N |
Missense |
16/82 |
- |
2 |
7-21640402-C-G |
c.3109C>G |
p.H1037D |
Missense |
16/82 |
- |
1 |
7-21640404-C-A |
c.3111C>A |
p.H1037Q |
Missense |
16/82 |
- |
1 |
7-21640404-C-T |
c.3111C>T |
p.H1037= |
Synonymous |
16/82 |
- |
2 |
7-21640405-A-G |
c.3112A>G |
p.T1038A |
Missense |
16/82 |
- |
36 |
7-21640407-T-A |
c.3114T>A |
p.T1038= |
Synonymous |
16/82 |
- |
3 |
7-21640407-T-C |
c.3114T>C |
p.T1038= |
Synonymous |
16/82 |
- |
4 |
7-21640407-T-G |
c.3114T>G |
p.T1038= |
Synonymous |
16/82 |
- |
5 |
7-21640417-G-A |
c.3124G>A |
p.V1042M |
Missense |
16/82 |
- |
1 |
7-21640418-T-C |
c.3125T>C |
p.V1042A |
Missense |
16/82 |
- |
1 |
7-21640420-G-A |
c.3127G>A |
p.D1043N |
Missense |
16/82 |
- |
2 |
7-21640420-G-C |
c.3127G>C |
p.D1043H |
Missense |
16/82 |
- |
1 |
7-21640423-G-C |
c.3130G>C |
p.D1044H |
Missense |
16/82 |
- |
1 |
7-21640423-G-T |
c.3130G>T |
p.D1044Y |
Missense |
16/82 |
- |
1 |
7-21640426-C-T |
c.3133C>T |
p.R1045* |
Nonsense |
16/82 |
- |
7 |
7-21640427-G-A |
c.3134G>A |
p.R1045Q |
Missense |
16/82 |
- |
4 |
7-21640427-G-T |
c.3134G>T |
p.R1045L |
Missense |
16/82 |
- |
2 |
7-21640432-G-A |
c.3139G>A |
p.E1047K |
Missense |
16/82 |
- |
1 |
7-21640433-A-C |
c.3140A>C |
p.E1047A |
Missense |
16/82 |
- |
1 |
7-21640433-A-G |
c.3140A>G |
p.E1047G |
Missense |
16/82 |
- |
1 |
7-21640435-T-C |
c.3142T>C |
p.F1048L |
Missense |
16/82 |
- |
1 |
7-21640437-T-G |
c.3144T>G |
p.F1048L |
Missense |
16/82 |
- |
1 |
7-21640437-T-A |
c.3144T>A |
p.F1048L |
Missense |
16/82 |
- |
2 |
7-21640438-A-C |
c.3145A>C |
p.M1049L |
Missense |
16/82 |
- |
1 |
7-21640438-A-T |
c.3145A>T |
p.M1049L |
Missense |
16/82 |
- |
1 |
7-21640445-A-G |
c.3152A>G |
p.H1051R |
Missense |
16/82 |
- |
1 |
7-21640448-T-A |
c.3155T>A |
p.F1052Y |
Missense |
16/82 |
- |
2 |
7-21640450-C-A |
c.3157C>A |
p.L1053I |
Missense |
16/82 |
- |
1 |
7-21640450-C-T |
c.3157C>T |
p.L1053F |
Missense |
16/82 |
- |
5 |
7-21640452-C-A |
c.3159C>A |
p.L1053= |
Synonymous |
16/82 |
- |
2 |
7-21640452-C-G |
c.3159C>G |
p.L1053= |
Synonymous |
16/82 |
- |
1 |
7-21640452-C-T |
c.3159C>T |
p.L1053= |
Synonymous |
16/82 |
- |
1 |
7-21640454-T-C |
c.3161T>C |
p.L1054S |
Missense |
16/82 |
- |
1 |
7-21640460-G-A |
c.3167G>A |
p.G1056D |
Missense |
16/82 |
- |
4 |
7-21640466-C-A |
c.3173C>A |
p.A1058D |
Missense |
16/82 |
- |
2 |
7-21640472-CT-AA |
c.3179_3180delinsAA |
p.S1060* |
Nonsense |
16/82 |
- |
1 |
7-21640477-G-A |
c.3184G>A |
p.D1062N |
Missense |
16/82 |
- |
3 |
7-21640477-G-T |
c.3184G>T |
p.D1062Y |
Missense |
16/82 |
- |
1 |
7-21640480-G-A |
c.3187G>A |
p.E1063K |
Missense |
16/82 |
- |
3 |
7-21640482-A-C |
c.3189A>C |
p.E1063D |
Missense |
16/82 |
- |
2 |
7-21640482-A-T |
c.3189A>T |
p.E1063D |
Missense |
16/82 |
- |
2 |
7-21640483-A-G |
c.3190A>G |
p.M1064V |
Missense |
16/82 |
- |
1 |
7-21640484-T-C |
c.3191T>C |
p.M1064T |
Missense |
16/82 |
- |
1 |
7-21640486-G-C |
c.3193G>C |
p.D1065H |
Missense |
16/82 |
- |
1 |
7-21640486-G-T |
c.3193G>T |
p.D1065Y |
Missense |
16/82 |
- |
5 |
7-21640494-T-C |
c.3201T>C |
p.H1067= |
Synonymous |
16/82 |
- |
1 |
7-21640496-C-T |
c.3203C>T |
p.A1068V |
Missense |
16/82 |
- |
1 |
7-21640498-A-G |
c.3205A>G |
p.N1069D |
Missense |
16/82 |
- |
1 |
7-21640502-A-G |
c.3209A>G |
p.E1070G |
Missense |
16/82 |
- |
1 |
7-21640503-A-G |
c.3210A>G |
p.E1070= |
Synonymous |
16/82 |
- |
2 |
7-21640504-G-A |
c.3211G>A |
p.E1071K |
Missense |
16/82 |
- |
1 |
7-21640504-G-T |
c.3211G>T |
p.E1071* |
Nonsense |
16/82 |
- |
4 |
7-21640506-A-C |
c.3213A>C |
p.E1071D |
Missense |
16/82 |
- |
1 |
7-21640506-A-T |
c.3213A>T |
p.E1071D |
Missense |
16/82 |
- |
1 |
7-21640507-A-G |
c.3214A>G |
p.I1072V |
Missense |
16/82 |
- |
4 |
7-21640510-CC-TT |
c.3217_3218delinsTT |
p.P1073F |
Missense |
16/82 |
- |
2 |
7-21640510-C-T |
c.3217C>T |
p.P1073S |
Missense |
16/82 |
- |
2 |
7-21640511-C-T |
c.3218C>T |
p.P1073L |
Missense |
16/82 |
- |
4 |
7-21640512-C-T |
c.3219C>T |
p.P1073= |
Synonymous |
16/82 |
- |
1 |
7-21640513-G-A |
c.3220G>A |
p.E1074K |
Missense |
16/82 |
- |
3 |
7-21640513-G-T |
c.3220G>T |
p.E1074* |
Nonsense |
16/82 |
- |
2 |
7-21640525-A-C |
c.3232A>C |
p.T1078P |
Missense |
16/82 |
- |
1 |
7-21640525-A-T |
c.3232A>T |
p.T1078S |
Missense |
16/82 |
- |
1 |
7-21640528-C-G |
c.3235C>G |
p.L1079V |
Missense |
16/82 |
- |
2 |
7-21640529-T-C |
c.3236T>C |
p.L1079P |
Missense |
16/82 |
- |
2 |
7-21640530-T-A |
c.3237T>A |
p.L1079= |
Synonymous |
16/82 |
- |
3 |
7-21640530-T-C |
c.3237T>C |
p.L1079= |
Synonymous |
16/82 |
- |
8 |
7-21640530-T-G |
c.3237T>G |
p.L1079= |
Synonymous |
16/82 |
- |
3 |
7-21640531-G-A |
c.3238G>A |
p.E1080K |
Missense |
16/82 |
- |
1 |
7-21640531-G-C |
c.3238G>C |
p.E1080Q |
Missense |
16/82 |
- |
1 |
7-21640531-G-T |
c.3238G>T |
p.E1080* |
Nonsense |
16/82 |
- |
1 |
7-21640533-G-A |
c.3240G>A |
p.E1080= |
Synonymous |
16/82 |
- |
2 |
7-21640543-G-A |
c.3250G>A |
p.E1084K |
Missense |
16/82 |
- |
1 |
7-21640543-G-T |
c.3250G>T |
p.E1084* |
Nonsense |
16/82 |
- |
4 |
7-21640548-G-A |
c.3255G>A |
p.Q1085= |
Synonymous |
16/82 |
- |
1 |
7-21640549-G-A |
c.3255+1G>A |
- |
IntronicSNV |
- |
16/81 |
2 |
7-21640552-A-C |
c.3255+4A>C |
- |
IntronicSNV |
- |
16/81 |
1 |
7-21640570-T-C |
c.3255+22T>C |
- |
IntronicSNV |
- |
16/81 |
2 |
7-21640618-C-G |
c.3256-10C>G |
- |
IntronicSNV |
- |
16/81 |
5 |
7-21640631-G-A |
c.3259G>A |
p.D1087N |
Missense |
17/82 |
- |
1 |
7-21640632-A-T |
c.3260A>T |
p.D1087V |
Missense |
17/82 |
- |
3 |
7-21640635-T-C |
c.3263T>C |
p.I1088T |
Missense |
17/82 |
- |
3 |
7-21640638-A-T |
c.3266A>T |
p.Y1089F |
Missense |
17/82 |
- |
1 |
7-21640643-G-A |
c.3271G>A |
p.A1091T |
Missense |
17/82 |
- |
6 |
7-21640644-C-T |
c.3272C>T |
p.A1091V |
Missense |
17/82 |
- |
2 |
7-21640648-G-T |
c.3276G>T |
p.L1092F |
Missense |
17/82 |
- |
1 |
7-21640660-G-A |
c.3288G>A |
p.M1096I |
Missense |
17/82 |
- |
6 |
7-21640660-G-C |
c.3288G>C |
p.M1096I |
Missense |
17/82 |
- |
2 |
7-21640660-G-T |
c.3288G>T |
p.M1096I |
Missense |
17/82 |
- |
2 |
7-21640661-A-C |
c.3289A>C |
p.S1097R |
Missense |
17/82 |
- |
1 |
7-21640663-C-A |
c.3291C>A |
p.S1097R |
Missense |
17/82 |
- |
4 |
7-21640663-C-G |
c.3291C>G |
p.S1097R |
Missense |
17/82 |
- |
1 |
7-21640664-A-G |
c.3292A>G |
p.K1098E |
Missense |
17/82 |
- |
2 |
7-21640667-T-C |
c.3295T>C |
p.F1099L |
Missense |
17/82 |
- |
3 |
7-21640667-T-G |
c.3295T>G |
p.F1099V |
Missense |
17/82 |
- |
1 |
7-21640667-T-TGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCAC |
c.3295_3296insGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCAC |
p.F1099Cfs*9 |
Frameshift |
17/82 |
- |
1 |
7-21640669-T-A |
c.3297T>A |
p.F1099L |
Missense |
17/82 |
- |
2 |
7-21640669-T-G |
c.3297T>G |
p.F1099L |
Missense |
17/82 |
- |
2 |
7-21640668-T-A |
c.3296T>A |
p.F1099Y |
Missense |
17/82 |
- |
1 |
7-21640668-T-G |
c.3296T>G |
p.F1099C |
Missense |
17/82 |
- |
2 |
7-21640673-G-A |
c.3301G>A |
p.D1101N |
Missense |
17/82 |
- |
1 |
7-21640674-A-G |
c.3302A>G |
p.D1101G |
Missense |
17/82 |
- |
1 |
7-21640675-C-T |
c.3303C>T |
p.D1101= |
Synonymous |
17/82 |
- |
1 |
7-21640680-G-C |
c.3308G>C |
p.R1103T |
Missense |
17/82 |
- |
2 |
7-21640692-G-A |
c.3320G>A |
p.S1107N |
Missense |
17/82 |
- |
1 |
7-21640692-G-T |
c.3320G>T |
p.S1107I |
Missense |
17/82 |
- |
1 |
7-21640695-G-T |
c.3323G>T |
p.W1108L |
Missense |
17/82 |
- |
1 |
7-21640698-T-TC |
c.3327dup |
p.K1110Qfs*16 |
Frameshift |
17/82 |
- |
1 |
7-21640704-T-C |
c.3332T>C |
p.V1111A |
Missense |
17/82 |
- |
3 |
7-21640705-G-A |
c.3333G>A |
p.V1111= |
Synonymous |
17/82 |
- |
4 |
7-21640705-G-C |
c.3333G>C |
p.V1111= |
Synonymous |
17/82 |
- |
3 |
7-21640705-G-T |
c.3333G>T |
p.V1111= |
Synonymous |
17/82 |
- |
3 |
7-21640707-A-G |
c.3335A>G |
p.D1112G |
Missense |
17/82 |
- |
1 |
7-21640712-A-G |
c.3340A>G |
p.K1114E |
Missense |
17/82 |
- |
1 |
7-21640713-A-G |
c.3341A>G |
p.K1114R |
Missense |
17/82 |
- |
1 |
7-21640715-C-A |
c.3343C>A |
p.P1115T |
Missense |
17/82 |
- |
1 |
7-21640715-C-T |
c.3343C>T |
p.P1115S |
Missense |
17/82 |
- |
1 |
7-21640716-C-T |
c.3344C>T |
p.P1115L |
Missense |
17/82 |
- |
1 |
7-21640726-G-GT |
c.3354_3355insT |
p.S1119* |
Nonsense |
17/82 |
- |
1 |
7-21640727-A-G |
c.3355A>G |
p.S1119G |
Missense |
17/82 |
- |
1 |
7-21640727-GAGC-G |
c.3355_3357del |
p.S1119del |
InFrameDeletion |
17/82 |
- |
1 |
7-21640728-G-A |
c.3356G>A |
p.S1119N |
Missense |
17/82 |
- |
2 |
7-21640729-C-T |
c.3357C>T |
p.S1119= |
Synonymous |
17/82 |
- |
4 |
7-21640731-T-C |
c.3359T>C |
p.L1120S |
Missense |
17/82 |
- |
1 |
7-21640732-G-C |
c.3360G>C |
p.L1120F |
Missense |
17/82 |
- |
1 |
7-21640732-G-T |
c.3360G>T |
p.L1120F |
Missense |
17/82 |
- |
1 |
7-21640737-C-T |
c.3365C>T |
p.T1122I |
Missense |
17/82 |
- |
1 |
7-21640740-TA-T |
c.3370del |
p.I1124Lfs*13 |
Frameshift |
17/82 |
- |
2 |
7-21640743-ATTAAGAAATGGAGCTGGAT-A |
c.3371_3389del |
p.I1124Sfs*7 |
Frameshift |
17/82 |
- |
1 |
7-21640744-T-A |
c.3372T>A |
p.I1124= |
Synonymous |
17/82 |
- |
1 |
7-21640744-T-C |
c.3372T>C |
p.I1124= |
Synonymous |
17/82 |
- |
2 |
7-21640745-A-G |
c.3373A>G |
p.K1125E |
Missense |
17/82 |
- |
2 |
7-21640749-A-C |
c.3377A>C |
p.K1126T |
Missense |
17/82 |
- |
1 |
7-21640752-G-A |
c.3380G>A |
p.W1127* |
Nonsense |
17/82 |
- |
3 |
7-21640753-G-A |
c.3381G>A |
p.W1127* |
Nonsense |
17/82 |
- |
3 |
7-21640753-G-C |
c.3381G>C |
p.W1127C |
Missense |
17/82 |
- |
1 |
7-21640753-G-T |
c.3381G>T |
p.W1127C |
Missense |
17/82 |
- |
1 |
7-21640756-C-T |
c.3384C>T |
p.S1128= |
Synonymous |
17/82 |
- |
2 |
7-21640760-A-G |
c.3388A>G |
p.M1130V |
Missense |
17/82 |
- |
2 |
7-21640763-T-A |
c.3391T>A |
p.F1131I |
Missense |
17/82 |
- |
1 |
7-21640765-T-C |
c.3393T>C |
p.F1131= |
Synonymous |
17/82 |
- |
2 |
7-21640779-T-A |
c.3407T>A |
p.L1136* |
Nonsense |
17/82 |
- |
1 |
7-21640782-G-A |
c.3410G>A |
p.R1137K |
Missense |
17/82 |
- |
1 |
7-21640782-G-T |
c.3410G>T |
p.R1137I |
Missense |
17/82 |
- |
2 |
7-21640794-A-T |
c.3422A>T |
p.D1141V |
Missense |
17/82 |
- |
1 |
7-21641013-G-A |
c.3426-1G>A |
- |
IntronicSNV |
- |
17/81 |
1 |
7-21641017-G-A |
c.3429G>A |
p.L1143= |
Synonymous |
18/82 |
- |
3 |
7-21641019-A-G |
c.3431A>G |
p.N1144S |
Missense |
18/82 |
- |
1 |
7-21641019-A-T |
c.3431A>T |
p.N1144I |
Missense |
18/82 |
- |
1 |
7-21641020-T-C |
c.3432T>C |
p.N1144= |
Synonymous |
18/82 |
- |
1 |
7-21641023-G-C |
c.3435G>C |
p.E1145D |
Missense |
18/82 |
- |
1 |
7-21641023-G-T |
c.3435G>T |
p.E1145D |
Missense |
18/82 |
- |
2 |
7-21641027-C-T |
c.3439C>T |
p.Q1147* |
Nonsense |
18/82 |
- |
2 |
7-21641030-G-C |
c.3442G>C |
p.E1148Q |
Missense |
18/82 |
- |
1 |
7-21641030-G-T |
c.3442G>T |
p.E1148* |
Nonsense |
18/82 |
- |
3 |
7-21641034-T-G |
c.3446T>G |
p.F1149C |
Missense |
18/82 |
- |
1 |
7-21641039-A-G |
c.3451A>G |
p.K1151E |
Missense |
18/82 |
- |
1 |
7-21641039-AAGGAGACAGATTCCGGACTTCAGAGAG-A |
c.3453_3479del |
p.E1152_E1160del |
InFrameDeletion |
18/82 |
- |
1 |
7-21641042-G-A |
c.3454G>A |
p.E1152K |
Missense |
18/82 |
- |
2 |
7-21641042-G-T |
c.3454G>T |
p.E1152* |
Nonsense |
18/82 |
- |
4 |
7-21641044-G-A |
c.3456G>A |
p.E1152= |
Synonymous |
18/82 |
- |
1 |
7-21641046-C-G |
c.3458C>G |
p.T1153R |
Missense |
18/82 |
- |
1 |
7-21641047-A-C |
c.3459A>C |
p.T1153= |
Synonymous |
18/82 |
- |
1 |
7-21641047-A-G |
c.3459A>G |
p.T1153= |
Synonymous |
18/82 |
- |
2 |
7-21641047-A-T |
c.3459A>T |
p.T1153= |
Synonymous |
18/82 |
- |
1 |
7-21641052-C-A |
c.3464C>A |
p.S1155Y |
Missense |
18/82 |
- |
1 |
7-21641053-C-A |
c.3465C>A |
p.S1155= |
Synonymous |
18/82 |
- |
2 |
7-21641053-C-G |
c.3465C>G |
p.S1155= |
Synonymous |
18/82 |
- |
2 |
7-21641053-C-T |
c.3465C>T |
p.S1155= |
Synonymous |
18/82 |
- |
2 |
7-21641054-G-A |
c.3466G>A |
p.G1156R |
Missense |
18/82 |
- |
3 |
7-21641054-G-C |
c.3466G>C |
p.G1156R |
Missense |
18/82 |
- |
2 |
7-21641054-G-T |
c.3466G>T |
p.G1156* |
Nonsense |
18/82 |
- |
2 |
7-21641057-C-A |
c.3469C>A |
p.L1157I |
Missense |
18/82 |
- |
1 |
7-21641058-T-G |
c.3470T>G |
p.L1157R |
Missense |
18/82 |
- |
8 |
7-21641059-T-A |
c.3471T>A |
p.L1157= |
Synonymous |
18/82 |
- |
1 |
7-21641059-T-C |
c.3471T>C |
p.L1157= |
Synonymous |
18/82 |
- |
1 |
7-21641059-T-G |
c.3471T>G |
p.L1157= |
Synonymous |
18/82 |
- |
1 |
7-21641062-G-A |
c.3474G>A |
p.Q1158= |
Synonymous |
18/82 |
- |
1 |
7-21641064-G-A |
c.3476G>A |
p.R1159K |
Missense |
18/82 |
- |
1 |
7-21641066-G-A |
c.3478G>A |
p.E1160K |
Missense |
18/82 |
- |
1 |
7-21641066-G-C |
c.3478G>C |
p.E1160Q |
Missense |
18/82 |
- |
2 |
7-21641066-G-T |
c.3478G>T |
p.E1160* |
Nonsense |
18/82 |
- |
5 |
7-21641067-A-G |
c.3479A>G |
p.E1160G |
Missense |
18/82 |
- |
1 |
7-21641068-A-ATTCCTCACCATCC |
c.3482_3483insCCTCACCATCCTT |
p.L1161Ffs*7 |
Frameshift |
18/82 |
- |
1 |
7-21641072-A-T |
c.3484A>T |
p.N1162Y |
Missense |
18/82 |
- |
1 |
7-21641075-G-A |
c.3487G>A |
p.E1163K |
Missense |
18/82 |
- |
2 |
7-21641075-GA-AT |
c.3487_3488delinsAT |
p.E1163I |
Missense |
18/82 |
- |
1 |
7-21641076-A-G |
c.3488A>G |
p.E1163G |
Missense |
18/82 |
- |
1 |
7-21641076-A-T |
c.3488A>T |
p.E1163V |
Missense |
18/82 |
- |
1 |
7-21641078-G-A |
c.3490G>A |
p.G1164S |
Missense |
18/82 |
- |
1 |
7-21641082-A-G |
c.3494A>G |
p.D1165G |
Missense |
18/82 |
- |
2 |
7-21641083-T-G |
c.3495T>G |
p.D1165E |
Missense |
18/82 |
- |
1 |
7-21641085-A-C |
c.3497A>C |
p.H1166P |
Missense |
18/82 |
- |
1 |
7-21641085-A-T |
c.3497A>T |
p.H1166L |
Missense |
18/82 |
- |
1 |
7-21641087-G-C |
c.3499G>C |
p.D1167H |
Missense |
18/82 |
- |
1 |
7-21641090-G-C |
c.3502G>C |
p.G1168R |
Missense |
18/82 |
- |
2 |
7-21641091-G-A |
c.3503G>A |
p.G1168D |
Missense |
18/82 |
- |
1 |
7-21641093-T-C |
c.3505T>C |
p.L1169= |
Synonymous |
18/82 |
- |
1 |
7-21641095-A-G |
c.3507A>G |
p.L1169= |
Synonymous |
18/82 |
- |
1 |
7-21641099-G-A |
c.3511G>A |
p.D1171N |
Missense |
18/82 |
- |
1 |
7-21641099-G-C |
c.3511G>C |
p.D1171H |
Missense |
18/82 |
- |
1 |
7-21641104-C-A |
c.3516C>A |
p.I1172= |
Synonymous |
18/82 |
- |
2 |
7-21641104-C-G |
c.3516C>G |
p.I1172M |
Missense |
18/82 |
- |
1 |
7-21641108-G-A |
c.3520G>A |
p.V1174M |
Missense |
18/82 |
- |
2 |
7-21641109-T-G |
c.3521T>G |
p.V1174G |
Missense |
18/82 |
- |
1 |
7-21641117-C-G |
c.3529C>G |
p.L1177V |
Missense |
18/82 |
- |
3 |
7-21641118-T-C |
c.3530T>C |
p.L1177P |
Missense |
18/82 |
- |
1 |
7-21641120-G-A |
c.3532G>A |
p.A1178T |
Missense |
18/82 |
- |
1 |
7-21641120-G-T |
c.3532G>T |
p.A1178S |
Missense |
18/82 |
- |
1 |
7-21641121-C-T |
c.3533C>T |
p.A1178V |
Missense |
18/82 |
- |
1 |
7-21641126-A-G |
c.3538A>G |
p.R1180G |
Missense |
18/82 |
- |
3 |
7-21641127-G-T |
c.3539G>T |
p.R1180I |
Missense |
18/82 |
- |
1 |
7-21641129-A-G |
c.3541A>G |
p.S1181G |
Missense |
18/82 |
- |
3 |
7-21641130-G-T |
c.3542G>T |
p.S1181I |
Missense |
18/82 |
- |
1 |
7-21641129-A-C |
c.3541A>C |
p.S1181R |
Missense |
18/82 |
- |
1 |
7-21641131-C-A |
c.3543C>A |
p.S1181R |
Missense |
18/82 |
- |
1 |
7-21641131-C-G |
c.3543C>G |
p.S1181R |
Missense |
18/82 |
- |
1 |
7-21641132-C-A |
c.3544C>A |
p.R1182= |
Synonymous |
18/82 |
- |
1 |
7-21641132-CG-AA |
c.3544_3545delinsAA |
p.R1182K |
Missense |
18/82 |
- |
1 |
7-21641132-C-T |
c.3544C>T |
p.R1182* |
Nonsense |
18/82 |
- |
6 |
7-21641133-G-A |
c.3545G>A |
p.R1182Q |
Missense |
18/82 |
- |
2 |
7-21641133-G-C |
c.3545G>C |
p.R1182P |
Missense |
18/82 |
- |
1 |
7-21641135-C-A |
c.3547C>A |
p.Q1183K |
Missense |
18/82 |
- |
1 |
7-21641143-T-A |
c.3555T>A |
p.A1185= |
Synonymous |
18/82 |
- |
1 |
7-21641143-T-C |
c.3555T>C |
p.A1185= |
Synonymous |
18/82 |
- |
1 |
7-21641143-T-G |
c.3555T>G |
p.A1185= |
Synonymous |
18/82 |
- |
1 |
7-21641145-C-T |
c.3557C>T |
p.T1186I |
Missense |
18/82 |
- |
2 |
7-21641150-TGAA-T |
c.3562_3564del |
p.E1188del |
InFrameDeletion |
18/82 |
- |
1 |
7-21641152-A-G |
c.3564A>G |
p.E1188= |
Synonymous |
18/82 |
- |
1 |
7-21641155-C-T |
c.3567C>T |
p.L1189= |
Synonymous |
18/82 |
- |
1 |
7-21641162-C-T |
c.3574C>T |
p.P1192S |
Missense |
18/82 |
- |
5 |
7-21641163-C-A |
c.3575C>A |
p.P1192H |
Missense |
18/82 |
- |
1 |
7-21641171-G-A |
c.3583G>A |
p.E1195K |
Missense |
18/82 |
- |
1 |
7-21641175-C-A |
c.3587C>A |
p.T1196K |
Missense |
18/82 |
- |
1 |
7-21641175-C-T |
c.3587C>T |
p.T1196M |
Missense |
18/82 |
- |
3 |
7-21641176-G-A |
c.3588G>A |
p.T1196= |
Synonymous |
18/82 |
- |
3 |
7-21641179-C-T |
c.3591C>T |
p.I1197= |
Synonymous |
18/82 |
- |
3 |
7-21641181-C-T |
c.3593C>T |
p.T1198I |
Missense |
18/82 |
- |
2 |
7-21641183-C-G |
c.3595C>G |
p.L1199V |
Missense |
18/82 |
- |
1 |
7-21641185-C-T |
c.3597C>T |
p.L1199= |
Synonymous |
18/82 |
- |
2 |
7-21641186-TT-CC |
c.3598_3599delinsCC |
p.L1200P |
Missense |
18/82 |
- |
1 |
7-21641188-G-A |
c.3600G>A |
p.L1200= |
Synonymous |
18/82 |
- |
4 |
7-21641188-G-T |
c.3600G>T |
p.L1200F |
Missense |
18/82 |
- |
1 |
7-21641189-G-A |
c.3601G>A |
p.E1201K |
Missense |
18/82 |
- |
1 |
7-21641192-AG-CT |
c.3604_3605inv |
p.S1202L |
Missense |
18/82 |
- |
1 |
7-21641192-AG-TT |
c.3604_3605delinsTT |
p.S1202F |
Missense |
18/82 |
- |
1 |
7-21641201-C-A |
c.3613C>A |
p.Q1205K |
Missense |
18/82 |
- |
1 |
7-21641202-A-G |
c.3614A>G |
p.Q1205R |
Missense |
18/82 |
- |
1 |
7-21641209-G-A |
c.3621G>A |
p.M1207I |
Missense |
18/82 |
- |
1 |
7-21641209-G-T |
c.3621G>T |
p.M1207I |
Missense |
18/82 |
- |
1 |
7-21641214-A-G |
c.3626A>G |
p.E1209G |
Missense |
18/82 |
- |
1 |
7-21641216-C-A |
c.3628C>A |
p.Q1210K |
Missense |
18/82 |
- |
1 |
7-21641216-C-CT |
c.3628_3629insT |
p.Q1210Lfs*11 |
Frameshift |
18/82 |
- |
1 |
7-21641218-G-A |
c.3630G>A |
p.Q1210= |
Synonymous |
18/82 |
- |
23 |
7-21641218-G-C |
c.3630G>C |
p.Q1210H |
Missense |
18/82 |
- |
4 |
7-21641219-G-A |
c.3631G>A |
p.V1211I |
Missense |
18/82 |
- |
1 |
7-21641222-T-C |
c.3634T>C |
p.Y1212H |
Missense |
18/82 |
- |
1 |
7-21641223-A-G |
c.3635A>G |
p.Y1212C |
Missense |
18/82 |
- |
1 |
7-21641223-A-T |
c.3635A>T |
p.Y1212F |
Missense |
18/82 |
- |
1 |
7-21641225-A-T |
c.3637A>T |
p.I1213F |
Missense |
18/82 |
- |
1 |
7-21641230-G-A |
c.3642G>A |
p.Q1214= |
Synonymous |
18/82 |
- |
1 |
7-21641231-C-A |
c.3643C>A |
p.L1215I |
Missense |
18/82 |
- |
1 |
7-21641234-G-A |
c.3646G>A |
p.E1216K |
Missense |
18/82 |
- |
4 |
7-21641238-T-C |
c.3648+2T>C |
- |
IntronicSNV |
- |
18/81 |
1 |
7-21641269-A-G |
c.3648+33A>G |
- |
IntronicSNV |
- |
18/81 |
4 |
7-21641629-C-T |
c.3648+393C>T |
- |
IntronicSNV |
- |
18/81 |
1 |
7-21646044-G-C |
c.3649G>C |
p.E1217Q |
Missense |
19/82 |
- |
2 |
7-21646046-A-C |
c.3651A>C |
p.E1217D |
Missense |
19/82 |
- |
1 |
7-21646047-T-A |
c.3652T>A |
p.L1218I |
Missense |
19/82 |
- |
1 |
7-21646054-A-G |
c.3659A>G |
p.E1220G |
Missense |
19/82 |
- |
2 |
7-21646057-G-A |
c.3662G>A |
p.R1221K |
Missense |
19/82 |
- |
1 |
7-21646060-G-A |
c.3665G>A |
p.W1222* |
Nonsense |
19/82 |
- |
1 |
7-21646061-G-A |
c.3666G>A |
p.W1222* |
Nonsense |
19/82 |
- |
3 |
7-21646062-G-A |
c.3667G>A |
p.E1223K |
Missense |
19/82 |
- |
1 |
7-21646066-C-T |
c.3671C>T |
p.T1224I |
Missense |
19/82 |
- |
1 |
7-21646073-A-T |
c.3678A>T |
p.K1226N |
Missense |
19/82 |
- |
1 |
7-21646076-G-A |
c.3681G>A |
p.K1227= |
Synonymous |
19/82 |
- |
1 |
7-21646079-C-A |
c.3684C>A |
p.I1228= |
Synonymous |
19/82 |
- |
1 |
7-21646079-C-T |
c.3684C>T |
p.I1228= |
Synonymous |
19/82 |
- |
3 |
7-21646080-G-T |
c.3685G>T |
p.A1229S |
Missense |
19/82 |
- |
4 |
7-21646081-C-T |
c.3686C>T |
p.A1229V |
Missense |
19/82 |
- |
2 |
7-21646086-A-T |
c.3691A>T |
p.T1231S |
Missense |
19/82 |
- |
1 |
7-21646087-C-A |
c.3692C>A |
p.T1231N |
Missense |
19/82 |
- |
1 |
7-21646091-C-A |
c.3696C>A |
p.V1232= |
Synonymous |
19/82 |
- |
1 |
7-21646091-C-G |
c.3696C>G |
p.V1232= |
Synonymous |
19/82 |
- |
1 |
7-21646092-A-G |
c.3697A>G |
p.R1233G |
Missense |
19/82 |
- |
2 |
7-21646092-AGA-TGT |
c.3697_3699delinsTGT |
p.R1233C |
Missense |
19/82 |
- |
1 |
7-21646099-A-T |
c.3704A>T |
p.E1235V |
Missense |
19/82 |
- |
1 |
7-21646110-C-A |
c.3715C>A |
p.L1239I |
Missense |
19/82 |
- |
1 |
7-21646115-T-C |
c.3720T>C |
p.H1240= |
Synonymous |
19/82 |
- |
1 |
7-21646120-C-A |
c.3725C>A |
p.A1242E |
Missense |
19/82 |
- |
1 |
7-21646120-C-T |
c.3725C>T |
p.A1242V |
Missense |
19/82 |
- |
3 |
7-21646121-G-A |
c.3726G>A |
p.A1242= |
Synonymous |
19/82 |
- |
1 |
7-21646121-G-C |
c.3726G>C |
p.A1242= |
Synonymous |
19/82 |
- |
1 |
7-21646121-G-T |
c.3726G>T |
p.A1242= |
Synonymous |
19/82 |
- |
1 |
7-21646122-G-A |
c.3727G>A |
p.E1243K |
Missense |
19/82 |
- |
3 |
7-21646122-G-T |
c.3727G>T |
p.E1243* |
Nonsense |
19/82 |
- |
2 |
7-21646134-A-C |
c.3739A>C |
p.I1247L |
Missense |
19/82 |
- |
2 |
7-21646135-T-C |
c.3740T>C |
p.I1247T |
Missense |
19/82 |
- |
1 |
7-21646139-GA-G |
c.3750del |
p.K1250Nfs*43 |
Frameshift |
19/82 |
- |
2 |
7-21646139-G-GA |
c.3750dup |
p.C1251Mfs*5 |
Frameshift |
19/82 |
- |
3 |
7-21646146-T-A |
c.3751T>A |
p.C1251S |
Missense |
19/82 |
- |
1 |
7-21646146-T-G |
c.3751T>G |
p.C1251G |
Missense |
19/82 |
- |
1 |
7-21646147-G-C |
c.3752G>C |
p.C1251S |
Missense |
19/82 |
- |
1 |
7-21646147-G-T |
c.3752G>T |
p.C1251F |
Missense |
19/82 |
- |
1 |
7-21646151-T-G |
c.3756T>G |
p.I1252M |
Missense |
19/82 |
- |
1 |
7-21646153-T-A |
c.3758T>A |
p.L1253* |
Nonsense |
19/82 |
- |
1 |
7-21646158-G-C |
c.3763G>C |
p.D1255H |
Missense |
19/82 |
- |
1 |
7-21646159-A-C |
c.3764A>C |
p.D1255A |
Missense |
19/82 |
- |
1 |
7-21646160-C-T |
c.3765C>T |
p.D1255= |
Synonymous |
19/82 |
- |
3 |
7-21646161-G-A |
c.3765+1G>A |
- |
IntronicSNV |
- |
19/81 |
1 |
7-21646166-C-G |
c.3765+6C>G |
- |
IntronicSNV |
- |
19/81 |
1 |
7-21646254-G-T |
c.3766-11G>T |
- |
IntronicSNV |
- |
19/81 |
2 |
7-21646265-G-A |
c.3766G>A |
p.A1256T |
Missense |
20/82 |
- |
1 |
7-21646270-G-A |
c.3771G>A |
p.K1257= |
Synonymous |
20/82 |
- |
3 |
7-21646274-G-T |
c.3775G>T |
p.A1259S |
Missense |
20/82 |
- |
1 |
7-21646276-A-C |
c.3777A>C |
p.A1259= |
Synonymous |
20/82 |
- |
1 |
7-21646276-A-G |
c.3777A>G |
p.A1259= |
Synonymous |
20/82 |
- |
1 |
7-21646276-A-T |
c.3777A>T |
p.A1259= |
Synonymous |
20/82 |
- |
1 |
7-21646280-T-C |
c.3781T>C |
p.F1261L |
Missense |
20/82 |
- |
1 |
7-21646282-C-A |
c.3783C>A |
p.F1261L |
Missense |
20/82 |
- |
1 |
7-21646282-C-G |
c.3783C>G |
p.F1261L |
Missense |
20/82 |
- |
1 |
7-21646281-T-C |
c.3782T>C |
p.F1261S |
Missense |
20/82 |
- |
3 |
7-21646282-C-T |
c.3783C>T |
p.F1261= |
Synonymous |
20/82 |
- |
3 |
7-21646283-AGA-TGG |
c.3784_3786delinsTGG |
p.R1262W |
Missense |
20/82 |
- |
1 |
7-21646286-G-A |
c.3787G>A |
p.E1263K |
Missense |
20/82 |
- |
1 |
7-21646288-G-GA |
c.3790dup |
p.R1264Kfs*11 |
Frameshift |
20/82 |
- |
1 |
7-21646290-G-A |
c.3791G>A |
p.R1264K |
Missense |
20/82 |
- |
2 |
7-21646290-G-C |
c.3791G>C |
p.R1264T |
Missense |
20/82 |
- |
1 |
7-21646291-A-T |
c.3792A>T |
p.R1264S |
Missense |
20/82 |
- |
3 |
7-21646292-T-C |
c.3793T>C |
p.F1265L |
Missense |
20/82 |
- |
1 |
7-21646295-AG-CA |
c.3796_3797delinsCA |
p.R1266Q |
Missense |
20/82 |
- |
1 |
7-21646299-A-C |
c.3800A>C |
p.H1267P |
Missense |
20/82 |
- |
1 |
7-21646301-T-A |
c.3802T>A |
p.Y1268N |
Missense |
20/82 |
- |
3 |
7-21646303-T-C |
c.3804T>C |
p.Y1268= |
Synonymous |
20/82 |
- |
3 |
7-21646304-G-A |
c.3805G>A |
p.A1269T |
Missense |
20/82 |
- |
1 |
7-21646305-CC-AG |
c.3806_3807delinsAG |
p.A1269E |
Missense |
20/82 |
- |
1 |
7-21646305-C-T |
c.3806C>T |
p.A1269V |
Missense |
20/82 |
- |
1 |
7-21646306-C-A |
c.3807C>A |
p.A1269= |
Synonymous |
20/82 |
- |
1 |
7-21646306-C-G |
c.3807C>G |
p.A1269= |
Synonymous |
20/82 |
- |
1 |
7-21646306-C-T |
c.3807C>T |
p.A1269= |
Synonymous |
20/82 |
- |
1 |
7-21646312-T-A |
c.3813T>A |
p.L1271= |
Synonymous |
20/82 |
- |
1 |
7-21646312-T-C |
c.3813T>C |
p.L1271= |
Synonymous |
20/82 |
- |
1 |
7-21646312-T-G |
c.3813T>G |
p.L1271= |
Synonymous |
20/82 |
- |
1 |
7-21646314-G-T |
c.3815G>T |
p.G1272V |
Missense |
20/82 |
- |
1 |
7-21646320-A-T |
c.3821A>T |
p.N1274I |
Missense |
20/82 |
- |
2 |
7-21646323-C-T |
c.3824C>T |
p.A1275V |
Missense |
20/82 |
- |
1 |
7-21646324-A-C |
c.3825A>C |
p.A1275= |
Synonymous |
20/82 |
- |
2 |
7-21646325-G-A |
c.3826G>A |
p.E1276K |
Missense |
20/82 |
- |
1 |
7-21646327-A-C |
c.3828A>C |
p.E1276D |
Missense |
20/82 |
- |
1 |
7-21646327-A-T |
c.3828A>T |
p.E1276D |
Missense |
20/82 |
- |
1 |
7-21646331-C-G |
c.3832C>G |
p.P1278A |
Missense |
20/82 |
- |
1 |
7-21646331-C-T |
c.3832C>T |
p.P1278S |
Missense |
20/82 |
- |
5 |
7-21646332-C-T |
c.3833C>T |
p.P1278L |
Missense |
20/82 |
- |
2 |
7-21646341-C-T |
c.3842C>T |
p.A1281V |
Missense |
20/82 |
- |
4 |
7-21646342-G-A |
c.3843G>A |
p.A1281= |
Synonymous |
20/82 |
- |
3 |
7-21646343-C-T |
c.3844C>T |
p.L1282F |
Missense |
20/82 |
- |
1 |
7-21646345-T-A |
c.3846T>A |
p.L1282= |
Synonymous |
20/82 |
- |
1 |
7-21646345-T-C |
c.3846T>C |
p.L1282= |
Synonymous |
20/82 |
- |
1 |
7-21646345-T-G |
c.3846T>G |
p.L1282= |
Synonymous |
20/82 |
- |
1 |
7-21646346-G-C |
c.3847G>C |
p.D1283H |
Missense |
20/82 |
- |
1 |
7-21647114-G-C |
c.3852+763G>C |
- |
IntronicSNV |
- |
20/81 |
1 |
7-21647114-G-T |
c.3852+763G>T |
- |
IntronicSNV |
- |
20/81 |
1 |
7-21647686-T-C |
c.3852+1335T>C |
- |
IntronicSNV |
- |
20/81 |
1 |
7-21648742-T-C |
c.3852+2391T>C |
- |
IntronicSNV |
- |
20/81 |
1 |
7-21653947-A-G |
c.3853-785A>G |
- |
IntronicSNV |
- |
20/81 |
2 |
7-21654114-G-A |
c.3853-618G>A |
- |
IntronicSNV |
- |
20/81 |
1 |
7-21654602-C-T |
c.3853-130C>T |
- |
IntronicSNV |
- |
20/81 |
4 |
7-21654653-G-A |
c.3853-79G>A |
- |
IntronicSNV |
- |
20/81 |
1 |
7-21654653-G-C |
c.3853-79G>C |
- |
IntronicSNV |
- |
20/81 |
1 |
7-21654708-C-T |
c.3853-24C>T |
- |
IntronicSNV |
- |
20/81 |
1 |
7-21654717-A-G |
c.3853-15A>G |
- |
IntronicSNV |
- |
20/81 |
1 |
7-21654738-G-A |
c.3859G>A |
p.E1287K |
Missense |
21/82 |
- |
3 |
7-21654738-G-T |
c.3859G>T |
p.E1287* |
Nonsense |
21/82 |
- |
1 |
7-21654743-G-A |
c.3864G>A |
p.E1288= |
Synonymous |
21/82 |
- |
1 |
7-21654743-G-T |
c.3864G>T |
p.E1288D |
Missense |
21/82 |
- |
1 |
7-21654744-C-A |
c.3865C>A |
p.L1289I |
Missense |
21/82 |
- |
2 |
7-21654744-C-T |
c.3865C>T |
p.L1289F |
Missense |
21/82 |
- |
2 |
7-21654745-T-A |
c.3866T>A |
p.L1289H |
Missense |
21/82 |
- |
1 |
7-21654746-T-A |
c.3867T>A |
p.L1289= |
Synonymous |
21/82 |
- |
1 |
7-21654746-T-C |
c.3867T>C |
p.L1289= |
Synonymous |
21/82 |
- |
1 |
7-21654746-T-G |
c.3867T>G |
p.L1289= |
Synonymous |
21/82 |
- |
1 |
7-21654747-G-C |
c.3868G>C |
p.E1290Q |
Missense |
21/82 |
- |
1 |
7-21654749-G-A |
c.3870G>A |
p.E1290= |
Synonymous |
21/82 |
- |
2 |
7-21654750-G-A |
c.3871G>A |
p.A1291T |
Missense |
21/82 |
- |
1 |
7-21654752-C-T |
c.3873C>T |
p.A1291= |
Synonymous |
21/82 |
- |
2 |
7-21654753-T-C |
c.3874T>C |
p.L1292= |
Synonymous |
21/82 |
- |
3 |
7-21654756-G-A |
c.3877G>A |
p.E1293K |
Missense |
21/82 |
- |
1 |
7-21654757-A-G |
c.3878A>G |
p.E1293G |
Missense |
21/82 |
- |
1 |
7-21654759-G-A |
c.3880G>A |
p.E1294K |
Missense |
21/82 |
- |
2 |
7-21654762-G-A |
c.3883G>A |
p.E1295K |
Missense |
21/82 |
- |
2 |
7-21654762-G-T |
c.3883G>T |
p.E1295* |
Nonsense |
21/82 |
- |
1 |
7-21654764-A-C |
c.3885A>C |
p.E1295D |
Missense |
21/82 |
- |
1 |
7-21654764-A-T |
c.3885A>T |
p.E1295D |
Missense |
21/82 |
- |
1 |
7-21654765-A-G |
c.3886A>G |
p.M1296V |
Missense |
21/82 |
- |
1 |
7-21654769-T-G |
c.3890T>G |
p.L1297W |
Missense |
21/82 |
- |
1 |
7-21654772-A-C |
c.3893A>C |
p.Q1298P |
Missense |
21/82 |
- |
1 |
7-21654772-A-G |
c.3893A>G |
p.Q1298R |
Missense |
21/82 |
- |
1 |
7-21654773-G-C |
c.3894G>C |
p.Q1298H |
Missense |
21/82 |
- |
4 |
7-21654773-G-T |
c.3894G>T |
p.Q1298H |
Missense |
21/82 |
- |
3 |
7-21654775-T-C |
c.3896T>C |
p.M1299T |
Missense |
21/82 |
- |
1 |
7-21654777-C-A |
c.3898C>A |
p.Q1300K |
Missense |
21/82 |
- |
1 |
7-21654777-C-T |
c.3898C>T |
p.Q1300* |
Nonsense |
21/82 |
- |
1 |
7-21654778-A-G |
c.3899A>G |
p.Q1300R |
Missense |
21/82 |
- |
2 |
7-21654780-G-T |
c.3901G>T |
p.E1301* |
Nonsense |
21/82 |
- |
4 |
7-21654781-A-G |
c.3902A>G |
p.E1301G |
Missense |
21/82 |
- |
1 |
7-21654784-C-G |
c.3905C>G |
p.S1302C |
Missense |
21/82 |
- |
1 |
7-21654784-C-T |
c.3905C>T |
p.S1302F |
Missense |
21/82 |
- |
3 |
7-21654789-C-T |
c.3910C>T |
p.R1304C |
Missense |
21/82 |
- |
3 |
7-21654790-G-A |
c.3911G>A |
p.R1304H |
Missense |
21/82 |
- |
4 |
7-21654792-C-G |
c.3913C>G |
p.L1305V |
Missense |
21/82 |
- |
5 |
7-21654796-T-A |
c.3917T>A |
p.F1306Y |
Missense |
21/82 |
- |
1 |
7-21654792-CT-C |
c.3918del |
p.F1306Lfs*11 |
Frameshift |
21/82 |
- |
1 |
7-21654800-A-G |
c.3921A>G |
p.E1307= |
Synonymous |
21/82 |
- |
1 |
7-21654801-G-A |
c.3922G>A |
p.V1308M |
Missense |
21/82 |
- |
1 |
7-21654801-G-C |
c.3922G>C |
p.V1308L |
Missense |
21/82 |
- |
1 |
7-21654804-G-A |
c.3925G>A |
p.A1309T |
Missense |
21/82 |
- |
1 |
7-21654809-TC-T |
c.3932del |
p.P1311Qfs*6 |
Frameshift |
21/82 |
- |
1 |
7-21654812-A-C |
c.3933A>C |
p.P1311= |
Synonymous |
21/82 |
- |
1 |
7-21654812-A-G |
c.3933A>G |
p.P1311= |
Synonymous |
21/82 |
- |
1 |
7-21654812-A-T |
c.3933A>T |
p.P1311= |
Synonymous |
21/82 |
- |
1 |
7-21654815-G-A |
c.3936G>A |
p.E1312= |
Synonymous |
21/82 |
- |
1 |
7-21654818-C-A |
c.3939C>A |
p.Y1313* |
Nonsense |
21/82 |
- |
1 |
7-21654825-A-G |
c.3946A>G |
p.M1316V |
Missense |
21/82 |
- |
5 |
7-21654827-G-A |
c.3948G>A |
p.M1316I |
Missense |
21/82 |
- |
3 |
7-21654827-G-C |
c.3948G>C |
p.M1316I |
Missense |
21/82 |
- |
1 |
7-21654827-G-T |
c.3948G>T |
p.M1316I |
Missense |
21/82 |
- |
1 |
7-21654835-G-A |
c.3956G>A |
p.C1319Y |
Missense |
21/82 |
- |
1 |
7-21654837-C-T |
c.3958C>T |
p.R1320C |
Missense |
21/82 |
- |
4 |
7-21654838-G-A |
c.3959G>A |
p.R1320H |
Missense |
21/82 |
- |
1 |
7-21654838-G-T |
c.3959G>T |
p.R1320L |
Missense |
21/82 |
- |
1 |
7-21654843-G-T |
c.3964G>T |
p.E1322* |
Nonsense |
21/82 |
- |
4 |
7-21654854-G-A |
c.3975G>A |
p.L1325= |
Synonymous |
21/82 |
- |
1 |
7-21654854-G-T |
c.3975G>T |
p.L1325F |
Missense |
21/82 |
- |
2 |
7-21654855-C-T |
c.3976C>T |
p.L1326F |
Missense |
21/82 |
- |
1 |
7-21654856-T-A |
c.3977T>A |
p.L1326H |
Missense |
21/82 |
- |
2 |
7-21654859-A-C |
c.3980A>C |
p.K1327T |
Missense |
21/82 |
- |
2 |
7-21654862-G-C |
c.3983G>C |
p.G1328A |
Missense |
21/82 |
- |
1 |
7-21654868-G-A |
c.3989G>A |
p.W1330* |
Nonsense |
21/82 |
- |
2 |
7-21654869-G-A |
c.3990G>A |
p.W1330* |
Nonsense |
21/82 |
- |
3 |
7-21654873-G-A |
c.3994G>A |
p.V1332I |
Missense |
21/82 |
- |
1 |
7-21654875-C-T |
c.3996C>T |
p.V1332= |
Synonymous |
21/82 |
- |
1 |
7-21654880-T-C |
c.4001T>C |
p.I1334T |
Missense |
21/82 |
- |
5 |
7-21654886-T-C |
c.4007T>C |
p.V1336A |
Missense |
21/82 |
- |
1 |
7-21654888-C-A |
c.4009C>A |
p.R1337= |
Synonymous |
21/82 |
- |
1 |
7-21654888-C-T |
c.4009C>T |
p.R1337* |
Nonsense |
21/82 |
- |
3 |
7-21654889-G-A |
c.4010G>A |
p.R1337Q |
Missense |
21/82 |
- |
2 |
7-21654889-G-T |
c.4010G>T |
p.R1337L |
Missense |
21/82 |
- |
1 |
7-21654970-A-C |
c.4011+80A>C |
- |
IntronicSNV |
- |
21/81 |
1 |
7-21654970-A-G |
c.4011+80A>G |
- |
IntronicSNV |
- |
21/81 |
2 |
7-21655667-T-C |
c.4012-160T>C |
- |
IntronicSNV |
- |
21/81 |
1 |
7-21655780-C-A |
c.4012-47C>A |
- |
IntronicSNV |
- |
21/81 |
1 |
7-21655780-C-G |
c.4012-47C>G |
- |
IntronicSNV |
- |
21/81 |
1 |
7-21655780-C-T |
c.4012-47C>T |
- |
IntronicSNV |
- |
21/81 |
1 |
7-21655827-AGA-TGT |
c.4012_4014delinsTGT |
p.R1338C |
Missense |
22/82 |
- |
1 |
7-21655838-TAATTGGACTA-T |
c.4026_4035del |
p.N1342Kfs*14 |
Frameshift |
22/82 |
- |
1 |
7-21655848-A-G |
c.4033A>G |
p.K1345E |
Missense |
22/82 |
- |
1 |
7-21655852-C-T |
c.4037C>T |
p.T1346I |
Missense |
22/82 |
- |
1 |
7-21655853-C-G |
c.4038C>G |
p.T1346= |
Synonymous |
22/82 |
- |
1 |
7-21655853-C-T |
c.4038C>T |
p.T1346= |
Synonymous |
22/82 |
- |
1 |
7-21655856-G-C |
c.4041G>C |
p.Q1347H |
Missense |
22/82 |
- |
1 |
7-21655856-G-T |
c.4041G>T |
p.Q1347H |
Missense |
22/82 |
- |
1 |
7-21655858-G-A |
c.4043G>A |
p.W1348* |
Nonsense |
22/82 |
- |
1 |
7-21655859-G-A |
c.4044G>A |
p.W1348* |
Nonsense |
22/82 |
- |
1 |
7-21655861-G-C |
c.4046G>C |
p.R1349T |
Missense |
22/82 |
- |
1 |
7-21655863-C-T |
c.4048C>T |
p.Q1350* |
Nonsense |
22/82 |
- |
1 |
7-21655865-G-A |
c.4050G>A |
p.Q1350= |
Synonymous |
22/82 |
- |
1 |
7-21655866-A-G |
c.4051A>G |
p.I1351V |
Missense |
22/82 |
- |
1 |
7-21655867-T-A |
c.4052T>A |
p.I1351N |
Missense |
22/82 |
- |
1 |
7-21655869-C-A |
c.4054C>A |
p.H1352N |
Missense |
22/82 |
- |
2 |
7-21655869-C-G |
c.4054C>G |
p.H1352D |
Missense |
22/82 |
- |
1 |
7-21655870-A-G |
c.4055A>G |
p.H1352R |
Missense |
22/82 |
- |
1 |
7-21655870-A-T |
c.4055A>T |
p.H1352L |
Missense |
22/82 |
- |
2 |
7-21655871-T-C |
c.4056T>C |
p.H1352= |
Synonymous |
22/82 |
- |
1 |
7-21655871-T-G |
c.4056T>G |
p.H1352Q |
Missense |
22/82 |
- |
1 |
7-21655874-G-T |
c.4059G>T |
p.V1353= |
Synonymous |
22/82 |
- |
2 |
7-21655878-C-A |
c.4063C>A |
p.Q1355K |
Missense |
22/82 |
- |
1 |
7-21655887-G-T |
c.4072G>T |
p.V1358L |
Missense |
22/82 |
- |
1 |
7-21655893-C-G |
c.4078C>G |
p.L1360V |
Missense |
22/82 |
- |
1 |
7-21655899-AAGG-A |
c.4084_4086del |
p.R1362del |
InFrameDeletion |
22/82 |
- |
1 |
7-21655905-G-A |
c.4090G>A |
p.A1364T |
Missense |
22/82 |
- |
2 |
7-21655912-C-A |
c.4095+2C>A |
- |
IntronicSNV |
- |
22/81 |
1 |
7-21655912-C-T |
c.4095+2C>T |
- |
IntronicSNV |
- |
22/81 |
1 |
7-21655913-G-A |
c.4095+3G>A |
- |
IntronicSNV |
- |
22/81 |
1 |
7-21655915-G-A |
c.4095+5G>A |
- |
IntronicSNV |
- |
22/81 |
1 |
7-21657130-C-G |
c.4096-107C>G |
- |
IntronicSNV |
- |
22/81 |
5 |
7-21657130-C-T |
c.4096-107C>T |
- |
IntronicSNV |
- |
22/81 |
5 |
7-21657185-A-G |
c.4096-52A>G |
- |
IntronicSNV |
- |
22/81 |
2 |
7-21657237-G-A |
c.4096G>A |
p.E1366K |
Missense |
23/82 |
- |
3 |
7-21657238-GAAATTTGGTCACTCAACAAGGAAGTCCGCGTCTGGGATGCTTACACGGGCCTGGAAGGC-G |
c.4098_4156del |
p.E1366Dfs*3 |
InFrameDeletion |
23/82 |
- |
2 |
7-21657244-G-A |
c.4103G>A |
p.W1368* |
Nonsense |
23/82 |
- |
1 |
7-21657244-G-T |
c.4103G>T |
p.W1368L |
Missense |
23/82 |
- |
1 |
7-21657245-G-A |
c.4104G>A |
p.W1368* |
Nonsense |
23/82 |
- |
2 |
7-21657247-C-T |
c.4106C>T |
p.S1369L |
Missense |
23/82 |
- |
1 |
7-21657249-C-T |
c.4108C>T |
p.L1370F |
Missense |
23/82 |
- |
1 |
7-21657256-A-G |
c.4115A>G |
p.K1372R |
Missense |
23/82 |
- |
1 |
7-21657256-A-T |
c.4115A>T |
p.K1372M |
Missense |
23/82 |
- |
2 |
7-21657258-G-A |
c.4117G>A |
p.E1373K |
Missense |
23/82 |
- |
3 |
7-21657260-A-C |
c.4119A>C |
p.E1373D |
Missense |
23/82 |
- |
1 |
7-21657261-G-A |
c.4120G>A |
p.V1374I |
Missense |
23/82 |
- |
1 |
7-21657263-C-T |
c.4122C>T |
p.V1374= |
Synonymous |
23/82 |
- |
1 |
7-21657265-G-A |
c.4124G>A |
p.R1375H |
Missense |
23/82 |
- |
4 |
7-21657265-G-C |
c.4124G>C |
p.R1375P |
Missense |
23/82 |
- |
1 |
7-21657266-C-A |
c.4125C>A |
p.R1375= |
Synonymous |
23/82 |
- |
2 |
7-21657266-C-G |
c.4125C>G |
p.R1375= |
Synonymous |
23/82 |
- |
1 |
7-21657266-C-T |
c.4125C>T |
p.R1375= |
Synonymous |
23/82 |
- |
2 |
7-21657267-G-A |
c.4126G>A |
p.V1376I |
Missense |
23/82 |
- |
7 |
7-21657267-G-T |
c.4126G>T |
p.V1376F |
Missense |
23/82 |
- |
1 |
7-21657269-C-T |
c.4128C>T |
p.V1376= |
Synonymous |
23/82 |
- |
2 |
7-21657271-G-A |
c.4130G>A |
p.W1377* |
Nonsense |
23/82 |
- |
2 |
7-21657272-G-A |
c.4131G>A |
p.W1377* |
Nonsense |
23/82 |
- |
1 |
7-21657273-G-A |
c.4132G>A |
p.D1378N |
Missense |
23/82 |
- |
1 |
7-21657274-A-G |
c.4133A>G |
p.D1378G |
Missense |
23/82 |
- |
1 |
7-21657277-C-T |
c.4136C>T |
p.A1379V |
Missense |
23/82 |
- |
2 |
7-21657279-T-C |
c.4138T>C |
p.Y1380H |
Missense |
23/82 |
- |
1 |
7-21657281-C-T |
c.4140C>T |
p.Y1380= |
Synonymous |
23/82 |
- |
2 |
7-21657283-C-G |
c.4142C>G |
p.T1381R |
Missense |
23/82 |
- |
1 |
7-21657283-C-T |
c.4142C>T |
p.T1381M |
Missense |
23/82 |
- |
2 |
7-21657286-G-A |
c.4145G>A |
p.G1382D |
Missense |
23/82 |
- |
2 |
7-21657289-T-A |
c.4148T>A |
p.L1383Q |
Missense |
23/82 |
- |
1 |
7-21657291-G-A |
c.4150G>A |
p.E1384K |
Missense |
23/82 |
- |
1 |
7-21657294-G-C |
c.4153G>C |
p.G1385R |
Missense |
23/82 |
- |
1 |
7-21657294-G-T |
c.4153G>T |
p.G1385C |
Missense |
23/82 |
- |
1 |
7-21657295-G-A |
c.4154G>A |
p.G1385D |
Missense |
23/82 |
- |
1 |
7-21657300-G-A |
c.4159G>A |
p.V1387I |
Missense |
23/82 |
- |
1 |
7-21657306-G-A |
c.4165G>A |
p.D1389N |
Missense |
23/82 |
- |
1 |
7-21657308-C-A |
c.4167C>A |
p.D1389E |
Missense |
23/82 |
- |
1 |
7-21657313-C-A |
c.4172C>A |
p.T1391K |
Missense |
23/82 |
- |
2 |
7-21657319-C-T |
c.4178C>T |
p.S1393F |
Missense |
23/82 |
- |
3 |
7-21657322-T-A |
c.4181T>A |
p.L1394Q |
Missense |
23/82 |
- |
1 |
7-21657322-T-C |
c.4181T>C |
p.L1394P |
Missense |
23/82 |
- |
1 |
7-21657324-AG-CA |
c.4183_4184delinsCA |
p.R1395Q |
Missense |
23/82 |
- |
1 |
7-21657325-G-A |
c.4184G>A |
p.R1395K |
Missense |
23/82 |
- |
1 |
7-21657327-G-A |
c.4186G>A |
p.A1396T |
Missense |
23/82 |
- |
1 |
7-21657328-C-G |
c.4187C>G |
p.A1396G |
Missense |
23/82 |
- |
1 |
7-21657332-C-A |
c.4191C>A |
p.I1397= |
Synonymous |
23/82 |
- |
2 |
7-21657332-C-T |
c.4191C>T |
p.I1397= |
Synonymous |
23/82 |
- |
2 |
7-21657336-G-A |
c.4195G>A |
p.E1399K |
Missense |
23/82 |
- |
1 |
7-21657337-A-C |
c.4196A>C |
p.E1399A |
Missense |
23/82 |
- |
3 |
7-21657343-A-G |
c.4202A>G |
p.Q1401R |
Missense |
23/82 |
- |
3 |
7-21657344-AGAGCCC-A |
c.4203_4208del |
p.Q1401_P1403delinsH |
MultiAAMissense |
23/82 |
- |
1 |
7-21657344-G-A |
c.4203G>A |
p.Q1401= |
Synonymous |
23/82 |
- |
1 |
7-21657347-C-A |
c.4206C>A |
p.S1402R |
Missense |
23/82 |
- |
1 |
7-21657349-C-G |
c.4208C>G |
p.P1403R |
Missense |
23/82 |
- |
1 |
7-21657352-C-T |
c.4211C>T |
p.A1404V |
Missense |
23/82 |
- |
2 |
7-21657356-TC-T |
c.4215del |
p.R1406Gfs*8 |
Frameshift |
23/82 |
- |
1 |
7-21657359-G-GT |
c.4218_4219insT |
p.D1407* |
Nonsense |
23/82 |
- |
1 |
7-21657360-G-T |
c.4219G>T |
p.D1407Y |
Missense |
23/82 |
- |
4 |
7-21657362-C-T |
c.4221C>T |
p.D1407= |
Synonymous |
23/82 |
- |
1 |
7-21657364-G-A |
c.4223G>A |
p.R1408K |
Missense |
23/82 |
- |
3 |
7-21657364-G-C |
c.4223G>C |
p.R1408T |
Missense |
23/82 |
- |
1 |
7-21657365-G-C |
c.4224G>C |
p.R1408S |
Missense |
23/82 |
- |
1 |
7-21657365-G-T |
c.4224G>T |
p.R1408S |
Missense |
23/82 |
- |
2 |
7-21657366-C-CTGATGG |
c.4225_4226insTGATGG |
p.H1409delinsLMD |
MultiAAMissense |
23/82 |
- |
1 |
7-21657370-G-A |
c.4229G>A |
p.W1410* |
Nonsense |
23/82 |
- |
1 |
7-21657371-G-A |
c.4230G>A |
p.W1410* |
Nonsense |
23/82 |
- |
2 |
7-21657371-G-T |
c.4230G>T |
p.W1410C |
Missense |
23/82 |
- |
1 |
7-21657378-C-T |
c.4237C>T |
p.L1413= |
Synonymous |
23/82 |
- |
1 |
7-21657378-CTG-ATC |
c.4237_4239delinsATC |
p.L1413I |
Missense |
23/82 |
- |
1 |
7-21657378-CTG-TTT |
c.4237_4239delinsTTT |
p.L1413F |
Missense |
23/82 |
- |
1 |
7-21657383-G-A |
c.4242G>A |
p.M1414I |
Missense |
23/82 |
- |
3 |
7-21657387-G-A |
c.4246G>A |
p.A1416T |
Missense |
23/82 |
- |
1 |
7-21657391-T-C |
c.4250T>C |
p.I1417T |
Missense |
23/82 |
- |
1 |
7-21657390-A-AT |
c.4251dup |
p.G1418Wfs*8 |
Frameshift |
23/82 |
- |
1 |
7-21657400-G-T |
c.4254+5G>T |
- |
IntronicSNV |
- |
23/81 |
3 |
7-21657408-G-A |
c.4254+13G>A |
- |
IntronicSNV |
- |
23/81 |
1 |
7-21657572-T-G |
c.4254+177T>G |
- |
IntronicSNV |
- |
23/81 |
1 |
7-21658537-C-T |
c.4255-181C>T |
- |
IntronicSNV |
- |
23/81 |
3 |
7-21658679-A-T |
c.4255-39A>T |
- |
IntronicSNV |
- |
23/81 |
1 |
7-21658722-A-C |
c.4259A>C |
p.K1420T |
Missense |
24/82 |
- |
1 |
7-21658736-G-A |
c.4273G>A |
p.E1425K |
Missense |
24/82 |
- |
1 |
7-21658737-A-C |
c.4274A>C |
p.E1425A |
Missense |
24/82 |
- |
1 |
7-21658740-CC-AG |
c.4277_4278delinsAG |
p.A1426E |
Missense |
24/82 |
- |
1 |
7-21658742-A-T |
c.4279A>T |
p.T1427S |
Missense |
24/82 |
- |
1 |
7-21658744-A-C |
c.4281A>C |
p.T1427= |
Synonymous |
24/82 |
- |
1 |
7-21658744-A-G |
c.4281A>G |
p.T1427= |
Synonymous |
24/82 |
- |
1 |
7-21658744-A-T |
c.4281A>T |
p.T1427= |
Synonymous |
24/82 |
- |
1 |
7-21658745-A-G |
c.4282A>G |
p.T1428A |
Missense |
24/82 |
- |
10 |
7-21658752-C-G |
c.4289C>G |
p.A1430G |
Missense |
24/82 |
- |
2 |
7-21658752-C-T |
c.4289C>T |
p.A1430V |
Missense |
24/82 |
- |
1 |
7-21658754-G-C |
c.4291G>C |
p.D1431H |
Missense |
24/82 |
- |
1 |
7-21658758-T-G |
c.4295T>G |
p.L1432W |
Missense |
24/82 |
- |
1 |
7-21658759-G-C |
c.4296G>C |
p.L1432F |
Missense |
24/82 |
- |
2 |
7-21658760-T-C |
c.4297T>C |
p.L1433= |
Synonymous |
24/82 |
- |
1 |
7-21658763-G-A |
c.4300G>A |
p.A1434T |
Missense |
24/82 |
- |
1 |
7-21658769-C-T |
c.4306C>T |
p.R1436W |
Missense |
24/82 |
- |
4 |
7-21658770-G-A |
c.4307G>A |
p.R1436Q |
Missense |
24/82 |
- |
2 |
7-21658772-T-C |
c.4309T>C |
p.L1437= |
Synonymous |
24/82 |
- |
1 |
7-21658774-A-G |
c.4311A>G |
p.L1437= |
Synonymous |
24/82 |
- |
1 |
7-21658773-T-C |
c.4310T>C |
p.L1437S |
Missense |
24/82 |
- |
1 |
7-21658774-A-C |
c.4311A>C |
p.L1437F |
Missense |
24/82 |
- |
1 |
7-21658774-A-T |
c.4311A>T |
p.L1437F |
Missense |
24/82 |
- |
1 |
7-21658775-C-T |
c.4312C>T |
p.H1438Y |
Missense |
24/82 |
- |
1 |
7-21658777-C-A |
c.4314C>A |
p.H1438Q |
Missense |
24/82 |
- |
2 |
7-21658777-C-G |
c.4314C>G |
p.H1438Q |
Missense |
24/82 |
- |
2 |
7-21658778-A-G |
c.4315A>G |
p.R1439G |
Missense |
24/82 |
- |
2 |
7-21658779-G-A |
c.4316G>A |
p.R1439K |
Missense |
24/82 |
- |
3 |
7-21658784-G-A |
c.4321G>A |
p.E1441K |
Missense |
24/82 |
- |
3 |
7-21658787-G-A |
c.4324G>A |
p.D1442N |
Missense |
24/82 |
- |
1 |
7-21658790-G-C |
c.4327G>C |
p.D1443H |
Missense |
24/82 |
- |
1 |
7-21658796-C-T |
c.4333C>T |
p.R1445* |
Nonsense |
24/82 |
- |
9 |
7-21658797-G-A |
c.4334G>A |
p.R1445Q |
Missense |
24/82 |
- |
4 |
7-21658799-AG-TA |
c.4336_4337delinsTA |
p.R1446* |
Nonsense |
24/82 |
- |
1 |
7-21658800-G-A |
c.4337G>A |
p.R1446K |
Missense |
24/82 |
- |
2 |
7-21658800-G-C |
c.4337G>C |
p.R1446T |
Missense |
24/82 |
- |
1 |
7-21658805-G-A |
c.4342G>A |
p.V1448M |
Missense |
24/82 |
- |
1 |
7-21658808-G-C |
c.4345G>C |
p.D1449H |
Missense |
24/82 |
- |
1 |
7-21658811-A-T |
c.4348A>T |
p.K1450* |
Nonsense |
24/82 |
- |
1 |
7-21658812-AG-A |
c.4351del |
p.A1451Rfs*2 |
Frameshift |
24/82 |
- |
1 |
7-21658815-C-T |
c.4352C>T |
p.A1451V |
Missense |
24/82 |
- |
2 |
7-21658816-G-A |
c.4353G>A |
p.A1451= |
Synonymous |
24/82 |
- |
2 |
7-21658816-G-C |
c.4353G>C |
p.A1451= |
Synonymous |
24/82 |
- |
1 |
7-21658816-G-T |
c.4353G>T |
p.A1451= |
Synonymous |
24/82 |
- |
1 |
7-21658817-G-A |
c.4354G>A |
p.V1452M |
Missense |
24/82 |
- |
1 |
7-21658818-T-C |
c.4355T>C |
p.V1452A |
Missense |
24/82 |
- |
1 |
7-21658823-G-C |
c.4360G>C |
p.E1454Q |
Missense |
24/82 |
- |
2 |
7-21658826-C-T |
c.4363C>T |
p.L1455= |
Synonymous |
24/82 |
- |
1 |
7-21658830-G-C |
c.4367G>C |
p.G1456A |
Missense |
24/82 |
- |
1 |
7-21658831-G-A |
c.4368G>A |
p.G1456= |
Synonymous |
24/82 |
- |
2 |
7-21658833-C-G |
c.4370C>G |
p.T1457S |
Missense |
24/82 |
- |
1 |
7-21658833-C-T |
c.4370C>T |
p.T1457I |
Missense |
24/82 |
- |
1 |
7-21658840-G-A |
c.4377G>A |
p.K1459= |
Synonymous |
24/82 |
- |
3 |
7-21658855-A-G |
c.4377+15A>G |
- |
IntronicSNV |
- |
24/81 |
7 |
7-21658874-G-T |
c.4377+34G>T |
- |
IntronicSNV |
- |
24/81 |
1 |
7-21658964-C-T |
c.4377+124C>T |
- |
IntronicSNV |
- |
24/81 |
4 |
7-21659094-A-G |
c.4377+254A>G |
- |
IntronicSNV |
- |
24/81 |
2 |
7-21659554-A-AT |
c.4378-18dup |
- |
IntronicInsertion |
- |
24/81 |
6 |
7-21659554-A-ATTAAT |
c.4378-17_4378-16insATTTA |
- |
IntronicInsertion |
- |
24/81 |
5 |
7-21659556-T-TA |
c.4378-17dup |
- |
IntronicInsertion |
- |
24/81 |
2 |
7-21659577-A-G |
c.4381A>G |
p.I1461V |
Missense |
25/82 |
- |
1 |
7-21659581-C-T |
c.4385C>T |
p.T1462I |
Missense |
25/82 |
- |
2 |
7-21659588-C-A |
c.4392C>A |
p.I1464= |
Synonymous |
25/82 |
- |
1 |
7-21659588-C-T |
c.4392C>T |
p.I1464= |
Synonymous |
25/82 |
- |
1 |
7-21659590-G-T |
c.4394G>T |
p.S1465I |
Missense |
25/82 |
- |
1 |
7-21659586-ATCAG-A |
c.4395_4398del |
p.S1465Rfs*6 |
Frameshift |
25/82 |
- |
1 |
7-21659591-T-G |
c.4395T>G |
p.S1465R |
Missense |
25/82 |
- |
1 |
7-21659597-C-A |
c.4401C>A |
p.T1467= |
Synonymous |
25/82 |
- |
2 |
7-21659597-C-G |
c.4401C>G |
p.T1467= |
Synonymous |
25/82 |
- |
2 |
7-21659597-C-T |
c.4401C>T |
p.T1467= |
Synonymous |
25/82 |
- |
2 |
7-21659604-A-G |
c.4408A>G |
p.T1470A |
Missense |
25/82 |
- |
1 |
7-21659609-G-A |
c.4413G>A |
p.M1471I |
Missense |
25/82 |
- |
1 |
7-21659609-G-C |
c.4413G>C |
p.M1471I |
Missense |
25/82 |
- |
1 |
7-21659609-G-T |
c.4413G>T |
p.M1471I |
Missense |
25/82 |
- |
1 |
7-21659611-A-G |
c.4415A>G |
p.K1472R |
Missense |
25/82 |
- |
2 |
7-21659612-G-A |
c.4416G>A |
p.K1472= |
Synonymous |
25/82 |
- |
2 |
7-21659614-T-G |
c.4418T>G |
p.F1473C |
Missense |
25/82 |
- |
1 |
7-21659617-C-A |
c.4421C>A |
p.S1474Y |
Missense |
25/82 |
- |
1 |
7-21659617-C-G |
c.4421C>G |
p.S1474C |
Missense |
25/82 |
- |
1 |
7-21659621-C-A |
c.4425C>A |
p.Y1475* |
Nonsense |
25/82 |
- |
1 |
7-21659621-C-T |
c.4425C>T |
p.Y1475= |
Synonymous |
25/82 |
- |
4 |
7-21659622-G-A |
c.4426G>A |
p.E1476K |
Missense |
25/82 |
- |
3 |
7-21659625-G-A |
c.4429G>A |
p.V1477I |
Missense |
25/82 |
- |
1 |
7-21659626-T-C |
c.4430T>C |
p.V1477A |
Missense |
25/82 |
- |
2 |
7-21659628-C-T |
c.4432C>T |
p.H1478Y |
Missense |
25/82 |
- |
1 |
7-21659630-C-T |
c.4434C>T |
p.H1478= |
Synonymous |
25/82 |
- |
2 |
7-21659632-A-G |
c.4436A>G |
p.Y1479C |
Missense |
25/82 |
- |
1 |
7-21659633-T-A |
c.4437T>A |
p.Y1479* |
Nonsense |
25/82 |
- |
2 |
7-21659633-T-G |
c.4437T>G |
p.Y1479* |
Nonsense |
25/82 |
- |
2 |
7-21659634-C-T |
c.4438C>T |
p.R1480* |
Nonsense |
25/82 |
- |
9 |
7-21659635-G-A |
c.4439G>A |
p.R1480Q |
Missense |
25/82 |
- |
3 |
7-21659638-C-T |
c.4442C>T |
p.T1481I |
Missense |
25/82 |
- |
1 |
7-21659640-G-T |
c.4444G>T |
p.G1482C |
Missense |
25/82 |
- |
1 |
7-21659641-G-A |
c.4445G>A |
p.G1482D |
Missense |
25/82 |
- |
4 |
7-21659645-T-A |
c.4449T>A |
p.I1483= |
Synonymous |
25/82 |
- |
10 |
7-21659645-T-C |
c.4449T>C |
p.I1483= |
Synonymous |
25/82 |
- |
17 |
7-21659646-C-A |
c.4450C>A |
p.P1484T |
Missense |
25/82 |
- |
1 |
7-21659646-C-G |
c.4450C>G |
p.P1484A |
Missense |
25/82 |
- |
1 |
7-21659647-C-T |
c.4451C>T |
p.P1484L |
Missense |
25/82 |
- |
3 |
7-21659651-A-G |
c.4455A>G |
p.L1485= |
Synonymous |
25/82 |
- |
1 |
7-21659653-T-A |
c.4457T>A |
p.L1486Q |
Missense |
25/82 |
- |
2 |
7-21659659-C-G |
c.4463C>G |
p.S1488C |
Missense |
25/82 |
- |
1 |
7-21659659-C-T |
c.4463C>T |
p.S1488F |
Missense |
25/82 |
- |
2 |
7-21659660-T-C |
c.4464T>C |
p.S1488= |
Synonymous |
25/82 |
- |
1 |
7-21659664-G-A |
c.4468G>A |
p.E1490K |
Missense |
25/82 |
- |
1 |
7-21659670-C-A |
c.4474C>A |
p.L1492I |
Missense |
25/82 |
- |
1 |
7-21659670-C-T |
c.4474C>T |
p.L1492F |
Missense |
25/82 |
- |
1 |
7-21659673-T-C |
c.4477T>C |
p.F1493L |
Missense |
25/82 |
- |
2 |
7-21659675-T-A |
c.4479T>A |
p.F1493L |
Missense |
25/82 |
- |
1 |
7-21659675-T-G |
c.4479T>G |
p.F1493L |
Missense |
25/82 |
- |
1 |
7-21659676-G-C |
c.4480G>C |
p.E1494Q |
Missense |
25/82 |
- |
3 |
7-21659682-C-A |
c.4486C>A |
p.L1496I |
Missense |
25/82 |
- |
1 |
7-21659685-G-A |
c.4489G>A |
p.E1497K |
Missense |
25/82 |
- |
1 |
7-21659685-G-C |
c.4489G>C |
p.E1497Q |
Missense |
25/82 |
- |
1 |
7-21659686-A-G |
c.4490A>G |
p.E1497G |
Missense |
25/82 |
- |
1 |
7-21659689-A-G |
c.4493A>G |
p.H1498R |
Missense |
25/82 |
- |
1 |
7-21666330-AT-A |
c.4500+6640del |
- |
IntronicDeletion |
- |
25/81 |
1 |
7-21672251-T-C |
c.4501-3238T>C |
- |
IntronicSNV |
- |
25/81 |
1 |
7-21675224-G-C |
c.4501-265G>C |
- |
IntronicSNV |
- |
25/81 |
1 |
7-21675424-T-C |
c.4501-65T>C |
- |
IntronicSNV |
- |
25/81 |
1 |
7-21675482-A-T |
c.4501-7A>T |
- |
IntronicSNV |
- |
25/81 |
1 |
7-21675489-G-A |
c.4501G>A |
p.V1501I |
Missense |
26/82 |
- |
1 |
7-21675493-A-C |
c.4505A>C |
p.Q1502P |
Missense |
26/82 |
- |
2 |
7-21675494-G-A |
c.4506G>A |
p.Q1502= |
Synonymous |
26/82 |
- |
1 |
7-21675495-TT-AG |
c.4507_4508delinsAG |
p.L1503R |
Missense |
26/82 |
- |
1 |
7-21675503-T-C |
c.4515T>C |
p.T1505= |
Synonymous |
26/82 |
- |
1 |
7-21675501-ACT-A |
c.4516_4517del |
p.L1506Sfs*11 |
Frameshift |
26/82 |
- |
2 |
7-21675507-C-T |
c.4519C>T |
p.L1507F |
Missense |
26/82 |
- |
3 |
7-21675517-A-T |
c.4529A>T |
p.K1510M |
Missense |
26/82 |
- |
1 |
7-21675520-A-G |
c.4532A>G |
p.Y1511C |
Missense |
26/82 |
- |
1 |
7-21675520-A-T |
c.4532A>T |
p.Y1511F |
Missense |
26/82 |
- |
1 |
7-21675527-A-C |
c.4539A>C |
p.E1513D |
Missense |
26/82 |
- |
1 |
7-21675527-A-T |
c.4539A>T |
p.E1513D |
Missense |
26/82 |
- |
1 |
7-21675530-T-A |
c.4542T>A |
p.Y1514* |
Nonsense |
26/82 |
- |
1 |
7-21675531-T-C |
c.4543T>C |
p.F1515L |
Missense |
26/82 |
- |
2 |
7-21675533-C-A |
c.4545C>A |
p.F1515L |
Missense |
26/82 |
- |
2 |
7-21675533-C-G |
c.4545C>G |
p.F1515L |
Missense |
26/82 |
- |
2 |
7-21675532-T-C |
c.4544T>C |
p.F1515S |
Missense |
26/82 |
- |
3 |
7-21675533-C-T |
c.4545C>T |
p.F1515= |
Synonymous |
26/82 |
- |
1 |
7-21675537-G-T |
c.4549G>T |
p.E1517* |
Nonsense |
26/82 |
- |
1 |
7-21675538-A-G |
c.4550A>G |
p.E1517G |
Missense |
26/82 |
- |
1 |
7-21675540-C-T |
c.4552C>T |
p.Q1518* |
Nonsense |
26/82 |
- |
1 |
7-21675544-T-A |
c.4556T>A |
p.V1519E |
Missense |
26/82 |
- |
1 |
7-21675563-A-G |
c.4575A>G |
p.K1525= |
Synonymous |
26/82 |
- |
2 |
7-21675564-TT-CC |
c.4576_4577delinsCC |
p.L1526P |
Missense |
26/82 |
- |
1 |
7-21675569-C-G |
c.4581C>G |
p.N1527K |
Missense |
26/82 |
- |
1 |
7-21675581-G-C |
c.4593G>C |
p.L1531F |
Missense |
26/82 |
- |
1 |
7-21675581-G-T |
c.4593G>T |
p.L1531F |
Missense |
26/82 |
- |
1 |
7-21675584-C-G |
c.4596C>G |
p.V1532= |
Synonymous |
26/82 |
- |
2 |
7-21675586-T-A |
c.4598T>A |
p.I1533N |
Missense |
26/82 |
- |
2 |
7-21675586-T-G |
c.4598T>G |
p.I1533S |
Missense |
26/82 |
- |
4 |
7-21675594-T-C |
c.4606T>C |
p.W1536R |
Missense |
26/82 |
- |
2 |
7-21675595-G-A |
c.4607G>A |
p.W1536* |
Nonsense |
26/82 |
- |
1 |
7-21675596-G-A |
c.4608G>A |
p.W1536* |
Nonsense |
26/82 |
- |
1 |
7-21675600-G-A |
c.4612G>A |
p.E1538K |
Missense |
26/82 |
- |
1 |
7-21675603-G-A |
c.4615G>A |
p.V1539I |
Missense |
26/82 |
- |
2 |
7-21675610-G-A |
c.4622G>A |
p.R1541Q |
Missense |
26/82 |
- |
8 |
7-21675614-T-A |
c.4626T>A |
p.T1542= |
Synonymous |
26/82 |
- |
1 |
7-21675614-T-C |
c.4626T>C |
p.T1542= |
Synonymous |
26/82 |
- |
1 |
7-21675614-T-G |
c.4626T>G |
p.T1542= |
Synonymous |
26/82 |
- |
1 |
7-21675616-G-C |
c.4628G>C |
p.W1543S |
Missense |
26/82 |
- |
1 |
7-21675621-C-G |
c.4633C>G |
p.H1545D |
Missense |
26/82 |
- |
1 |
7-21675621-C-T |
c.4633C>T |
p.H1545Y |
Missense |
26/82 |
- |
1 |
7-21675624-C-T |
c.4636C>T |
p.L1546= |
Synonymous |
26/82 |
- |
2 |
7-21675627-G-A |
c.4639G>A |
p.E1547K |
Missense |
26/82 |
- |
1 |
7-21675628-A-G |
c.4640A>G |
p.E1547G |
Missense |
26/82 |
- |
1 |
7-21675631-G-T |
c.4643G>T |
p.S1548I |
Missense |
26/82 |
- |
4 |
7-21675635-T-A |
c.4647T>A |
p.I1549= |
Synonymous |
26/82 |
- |
1 |
7-21675636-T-C |
c.4648T>C |
p.F1550L |
Missense |
26/82 |
- |
1 |
7-21675641-C-A |
c.4653C>A |
p.V1551= |
Synonymous |
26/82 |
- |
1 |
7-21675641-C-G |
c.4653C>G |
p.V1551= |
Synonymous |
26/82 |
- |
1 |
7-21675641-C-T |
c.4653C>T |
p.V1551= |
Synonymous |
26/82 |
- |
1 |
7-21675643-G-A |
c.4655G>A |
p.C1552Y |
Missense |
26/82 |
- |
2 |
7-21675652-A-G |
c.4664A>G |
p.D1555G |
Missense |
26/82 |
- |
1 |
7-21675655-T-C |
c.4667T>C |
p.I1556T |
Missense |
26/82 |
- |
1 |
7-21675657-C-T |
c.4669C>T |
p.R1557* |
Nonsense |
26/82 |
- |
3 |
7-21675658-G-A |
c.4670G>A |
p.R1557Q |
Missense |
26/82 |
- |
8 |
7-21675658-G-T |
c.4670G>T |
p.R1557L |
Missense |
26/82 |
- |
1 |
7-21675662-C-A |
c.4674C>A |
p.I1558= |
Synonymous |
26/82 |
- |
1 |
7-21675662-C-T |
c.4674C>T |
p.I1558= |
Synonymous |
26/82 |
- |
1 |
7-21675663-C-G |
c.4675C>G |
p.Q1559E |
Missense |
26/82 |
- |
1 |
7-21675676-A-G |
c.4688A>G |
p.D1563G |
Missense |
26/82 |
- |
1 |
7-21675680-T-A |
c.4692T>A |
p.A1564= |
Synonymous |
26/82 |
- |
1 |
7-21675680-T-C |
c.4692T>C |
p.A1564= |
Synonymous |
26/82 |
- |
1 |
7-21675680-T-G |
c.4692T>G |
p.A1564= |
Synonymous |
26/82 |
- |
1 |
7-21675681-A-G |
c.4693A>G |
p.R1565G |
Missense |
26/82 |
- |
1 |
7-21675681-A-C |
c.4693A>C |
p.R1565= |
Synonymous |
26/82 |
- |
1 |
7-21675683-A-G |
c.4695A>G |
p.R1565= |
Synonymous |
26/82 |
- |
1 |
7-21675684-AGA-TGT |
c.4696_4698delinsTGT |
p.R1566C |
Missense |
26/82 |
- |
1 |
7-21675688-T-C |
c.4700T>C |
p.F1567S |
Missense |
26/82 |
- |
1 |
7-21675690-G-A |
c.4702G>A |
p.D1568N |
Missense |
26/82 |
- |
1 |
7-21675694-G-A |
c.4706G>A |
p.G1569E |
Missense |
26/82 |
- |
1 |
7-21675695-G-A |
c.4707G>A |
p.G1569= |
Synonymous |
26/82 |
- |
3 |
7-21675695-G-C |
c.4707G>C |
p.G1569= |
Synonymous |
26/82 |
- |
1 |
7-21675695-G-T |
c.4707G>T |
p.G1569= |
Synonymous |
26/82 |
- |
1 |
7-21675692-T-TG |
c.4708dup |
p.V1570Gfs*4 |
Frameshift |
26/82 |
- |
1 |
7-21675696-G-A |
c.4708G>A |
p.V1570M |
Missense |
26/82 |
- |
1 |
7-21675696-G-C |
c.4708G>C |
p.V1570L |
Missense |
26/82 |
- |
1 |
7-21675696-G-T |
c.4708G>T |
p.V1570L |
Missense |
26/82 |
- |
1 |
7-21675698-G-A |
c.4710G>A |
p.V1570= |
Synonymous |
26/82 |
- |
1 |
7-21675699-G-C |
c.4711G>C |
p.D1571H |
Missense |
26/82 |
- |
1 |
7-21675701-T-C |
c.4713T>C |
p.D1571= |
Synonymous |
26/82 |
- |
2 |
7-21675703-C-T |
c.4715C>T |
p.A1572V |
Missense |
26/82 |
- |
2 |
7-21675711-A-G |
c.4723A>G |
p.K1575E |
Missense |
26/82 |
- |
1 |
7-21675713-G-C |
c.4725G>C |
p.K1575N |
Missense |
26/82 |
- |
1 |
7-21675714-G-T |
c.4725+1G>T |
- |
IntronicSNV |
- |
26/81 |
1 |
7-21677065-A-G |
c.4726-164A>G |
- |
IntronicSNV |
- |
26/81 |
2 |
7-21677065-A-T |
c.4726-164A>T |
- |
IntronicSNV |
- |
26/81 |
2 |
7-21677204-G-A |
c.4726-25G>A |
- |
IntronicSNV |
- |
26/81 |
1 |
7-21677214-T-C |
c.4726-15T>C |
- |
IntronicSNV |
- |
26/81 |
2 |
7-21677232-T-C |
c.4729T>C |
p.L1577= |
Synonymous |
27/82 |
- |
2 |
7-21677234-A-G |
c.4731A>G |
p.L1577= |
Synonymous |
27/82 |
- |
2 |
7-21677236-T-C |
c.4733T>C |
p.M1578T |
Missense |
27/82 |
- |
2 |
7-21677237-G-C |
c.4734G>C |
p.M1578I |
Missense |
27/82 |
- |
2 |
7-21677247-G-A |
c.4744G>A |
p.A1582T |
Missense |
27/82 |
- |
1 |
7-21677250-A-C |
c.4747A>C |
p.K1583Q |
Missense |
27/82 |
- |
1 |
7-21677250-A-G |
c.4747A>G |
p.K1583E |
Missense |
27/82 |
- |
1 |
7-21677251-A-G |
c.4748A>G |
p.K1583R |
Missense |
27/82 |
- |
1 |
7-21677252-A-C |
c.4749A>C |
p.K1583N |
Missense |
27/82 |
- |
1 |
7-21677252-A-T |
c.4749A>T |
p.K1583N |
Missense |
27/82 |
- |
1 |
7-21677253-G-C |
c.4750G>C |
p.V1584L |
Missense |
27/82 |
- |
1 |
7-21677253-G-T |
c.4750G>T |
p.V1584L |
Missense |
27/82 |
- |
1 |
7-21677266-T-A |
c.4763T>A |
p.L1588* |
Nonsense |
27/82 |
- |
1 |
7-21677266-T-G |
c.4763T>G |
p.L1588* |
Nonsense |
27/82 |
- |
1 |
7-21677268-G-T |
c.4765G>T |
p.E1589* |
Nonsense |
27/82 |
- |
1 |
7-21677271-G-T |
c.4768G>T |
p.A1590S |
Missense |
27/82 |
- |
1 |
7-21677274-A-C |
c.4771A>C |
p.T1591P |
Missense |
27/82 |
- |
1 |
7-21677275-C-T |
c.4772C>T |
p.T1591M |
Missense |
27/82 |
- |
3 |
7-21677278-G-T |
c.4775G>T |
p.C1592F |
Missense |
27/82 |
- |
6 |
7-21677280-A-G |
c.4777A>G |
p.R1593G |
Missense |
27/82 |
- |
1 |
7-21677281-G-T |
c.4778G>T |
p.R1593I |
Missense |
27/82 |
- |
1 |
7-21677293-A-G |
c.4790A>G |
p.Y1597C |
Missense |
27/82 |
- |
1 |
7-21677295-G-A |
c.4792G>A |
p.E1598K |
Missense |
27/82 |
- |
3 |
7-21677308-A-G |
c.4805A>G |
p.D1602G |
Missense |
27/82 |
- |
1 |
7-21677310-T-G |
c.4807T>G |
p.L1603V |
Missense |
27/82 |
- |
1 |
7-21677313-C-A |
c.4810C>A |
p.Q1604K |
Missense |
27/82 |
- |
1 |
7-21677315-G-C |
c.4812G>C |
p.Q1604H |
Missense |
27/82 |
- |
1 |
7-21677315-G-T |
c.4812G>T |
p.Q1604H |
Missense |
27/82 |
- |
1 |
7-21677319-AG-CA |
c.4816_4817delinsCA |
p.R1606Q |
Missense |
27/82 |
- |
1 |
7-21677319-A-T |
c.4816A>T |
p.R1606W |
Missense |
27/82 |
- |
1 |
7-21677320-G-A |
c.4817G>A |
p.R1606K |
Missense |
27/82 |
- |
2 |
7-21678339-T-TGC |
c.4818-217_4818-216insCG |
- |
IntronicInsertion |
- |
27/81 |
2 |
7-21678558-C-T |
c.4819C>T |
p.L1607F |
Missense |
28/82 |
- |
1 |
7-21678564-C-G |
c.4825C>G |
p.L1609V |
Missense |
28/82 |
- |
1 |
7-21678568-G-A |
c.4829G>A |
p.C1610Y |
Missense |
28/82 |
- |
1 |
7-21678570-G-A |
c.4831G>A |
p.E1611K |
Missense |
28/82 |
- |
4 |
7-21678570-G-T |
c.4831G>T |
p.E1611* |
Nonsense |
28/82 |
- |
1 |
7-21678571-A-T |
c.4832A>T |
p.E1611V |
Missense |
28/82 |
- |
1 |
7-21678572-A-T |
c.4833A>T |
p.E1611D |
Missense |
28/82 |
- |
1 |
7-21678576-G-T |
c.4837G>T |
p.A1613S |
Missense |
28/82 |
- |
2 |
7-21678579-C-T |
c.4840C>T |
p.L1614F |
Missense |
28/82 |
- |
1 |
7-21678582-G-A |
c.4843G>A |
p.A1615T |
Missense |
28/82 |
- |
1 |
7-21678582-G-T |
c.4843G>T |
p.A1615S |
Missense |
28/82 |
- |
1 |
7-21678585-G-A |
c.4846G>A |
p.E1616K |
Missense |
28/82 |
- |
2 |
7-21678590-C-A |
c.4851C>A |
p.Y1617* |
Nonsense |
28/82 |
- |
1 |
7-21678590-C-G |
c.4851C>G |
p.Y1617* |
Nonsense |
28/82 |
- |
1 |
7-21678590-C-T |
c.4851C>T |
p.Y1617= |
Synonymous |
28/82 |
- |
1 |
7-21678594-G-T |
c.4855G>T |
p.E1619* |
Nonsense |
28/82 |
- |
3 |
7-21678596-A-C |
c.4857A>C |
p.E1619D |
Missense |
28/82 |
- |
1 |
7-21678596-A-T |
c.4857A>T |
p.E1619D |
Missense |
28/82 |
- |
3 |
7-21678598-C-A |
c.4859C>A |
p.T1620N |
Missense |
28/82 |
- |
1 |
7-21678600-A-T |
c.4861A>T |
p.K1621* |
Nonsense |
28/82 |
- |
2 |
7-21678604-G-A |
c.4865G>A |
p.R1622H |
Missense |
28/82 |
- |
1 |
7-21678604-G-C |
c.4865G>C |
p.R1622P |
Missense |
28/82 |
- |
1 |
7-21678607-T-C |
c.4868T>C |
p.I1623T |
Missense |
28/82 |
- |
2 |
7-21678609-G-A |
c.4870G>A |
p.A1624T |
Missense |
28/82 |
- |
2 |
7-21678613-T-A |
c.4874T>A |
p.F1625Y |
Missense |
28/82 |
- |
1 |
7-21678616-C-T |
c.4877C>T |
p.P1626L |
Missense |
28/82 |
- |
4 |
7-21678618-C-T |
c.4879C>T |
p.R1627C |
Missense |
28/82 |
- |
6 |
7-21678619-G-A |
c.4880G>A |
p.R1627H |
Missense |
28/82 |
- |
2 |
7-21678619-G-C |
c.4880G>C |
p.R1627P |
Missense |
28/82 |
- |
1 |
7-21678621-T-C |
c.4882T>C |
p.F1628L |
Missense |
28/82 |
- |
1 |
7-21678623-C-A |
c.4884C>A |
p.F1628L |
Missense |
28/82 |
- |
1 |
7-21678623-C-G |
c.4884C>G |
p.F1628L |
Missense |
28/82 |
- |
1 |
7-21678623-C-T |
c.4884C>T |
p.F1628= |
Synonymous |
28/82 |
- |
1 |
7-21678624-T-C |
c.4885T>C |
p.Y1629H |
Missense |
28/82 |
- |
2 |
7-21678625-A-C |
c.4886A>C |
p.Y1629S |
Missense |
28/82 |
- |
1 |
7-21678625-A-G |
c.4886A>G |
p.Y1629C |
Missense |
28/82 |
- |
1 |
7-21678627-T-C |
c.4888T>C |
p.F1630L |
Missense |
28/82 |
- |
1 |
7-21678629-C-A |
c.4890C>A |
p.F1630L |
Missense |
28/82 |
- |
1 |
7-21678629-C-G |
c.4890C>G |
p.F1630L |
Missense |
28/82 |
- |
2 |
7-21678628-T-A |
c.4889T>A |
p.F1630Y |
Missense |
28/82 |
- |
1 |
7-21678629-C-T |
c.4890C>T |
p.F1630= |
Synonymous |
28/82 |
- |
5 |
7-21678630-G-A |
c.4891G>A |
p.V1631I |
Missense |
28/82 |
- |
3 |
7-21678636-TC-AA |
c.4897_4898delinsAA |
p.S1633N |
Missense |
28/82 |
- |
1 |
7-21678637-C-A |
c.4898C>A |
p.S1633Y |
Missense |
28/82 |
- |
3 |
7-21678640-C-G |
c.4901C>G |
p.A1634G |
Missense |
28/82 |
- |
1 |
7-21678642-G-A |
c.4903G>A |
p.D1635N |
Missense |
28/82 |
- |
2 |
7-21678642-G-T |
c.4903G>T |
p.D1635Y |
Missense |
28/82 |
- |
2 |
7-21678643-A-G |
c.4904A>G |
p.D1635G |
Missense |
28/82 |
- |
11 |
7-21678648-C-G |
c.4909C>G |
p.L1637V |
Missense |
28/82 |
- |
2 |
7-21678654-A-G |
c.4915A>G |
p.I1639V |
Missense |
28/82 |
- |
2 |
7-21678659-C-A |
c.4920C>A |
p.L1640= |
Synonymous |
28/82 |
- |
1 |
7-21678659-C-G |
c.4920C>G |
p.L1640= |
Synonymous |
28/82 |
- |
1 |
7-21678659-C-T |
c.4920C>T |
p.L1640= |
Synonymous |
28/82 |
- |
1 |
7-21678661-C-G |
c.4922C>G |
p.S1641* |
Nonsense |
28/82 |
- |
4 |
7-21678665-A-C |
c.4926A>C |
p.K1642N |
Missense |
28/82 |
- |
1 |
7-21678666-G-A |
c.4927G>A |
p.G1643R |
Missense |
28/82 |
- |
1 |
7-21678666-G-C |
c.4927G>C |
p.G1643R |
Missense |
28/82 |
- |
1 |
7-21678666-GGA-TGT |
c.4927_4929delinsTGT |
p.G1643C |
Missense |
28/82 |
- |
1 |
7-21678666-G-T |
c.4927G>T |
p.G1643* |
Nonsense |
28/82 |
- |
2 |
7-21678667-G-A |
c.4928G>A |
p.G1643E |
Missense |
28/82 |
- |
2 |
7-21678667-G-C |
c.4928G>C |
p.G1643A |
Missense |
28/82 |
- |
1 |
7-21678669-G-C |
c.4930G>C |
p.A1644P |
Missense |
28/82 |
- |
1 |
7-21678670-C-T |
c.4931C>T |
p.A1644V |
Missense |
28/82 |
- |
3 |
7-21678673-A-G |
c.4934A>G |
p.Q1645R |
Missense |
28/82 |
- |
1 |
7-21678674-G-C |
c.4935G>C |
p.Q1645H |
Missense |
28/82 |
- |
1 |
7-21678674-G-T |
c.4935G>T |
p.Q1645H |
Missense |
28/82 |
- |
2 |
7-21678676-C-G |
c.4937C>G |
p.P1646R |
Missense |
28/82 |
- |
1 |
7-21678680-A-C |
c.4941A>C |
p.K1647N |
Missense |
28/82 |
- |
1 |
7-21678681-C-A |
c.4942C>A |
p.Q1648K |
Missense |
28/82 |
- |
1 |
7-21678681-C-G |
c.4942C>G |
p.Q1648E |
Missense |
28/82 |
- |
1 |
7-21678684-G-A |
c.4944+1G>A |
- |
IntronicSNV |
- |
28/81 |
2 |
7-21678689-A-G |
c.4944+6A>G |
- |
IntronicSNV |
- |
28/81 |
1 |
7-21678741-G-A |
c.4944+58G>A |
- |
IntronicSNV |
- |
28/81 |
1 |
7-21679487-T-G |
c.4944+804T>G |
- |
IntronicSNV |
- |
28/81 |
1 |
7-21679486-GT-G |
c.4944+813del |
- |
IntronicDeletion |
- |
28/81 |
1 |
7-21681438-G-A |
c.4944+2755G>A |
- |
IntronicSNV |
- |
28/81 |
1 |
7-21687925-G-C |
c.4945-7525G>C |
- |
IntronicSNV |
- |
28/81 |
3 |
7-21689723-C-A |
c.4945-5727C>A |
- |
IntronicSNV |
- |
28/81 |
1 |
7-21689723-C-T |
c.4945-5727C>T |
- |
IntronicSNV |
- |
28/81 |
1 |
7-21690571-T-TA |
c.4945-4879_4945-4878insA |
- |
IntronicInsertion |
- |
28/81 |
1 |
7-21690571-T-TAA |
c.4945-4879_4945-4878insAA |
- |
IntronicInsertion |
- |
28/81 |
1 |
7-21690571-T-TAAA |
c.4945-4879_4945-4878insAAA |
- |
IntronicInsertion |
- |
28/81 |
1 |
7-21690572-T-A |
c.4945-4878T>A |
- |
IntronicSNV |
- |
28/81 |
2 |
7-21691020-A-G |
c.4945-4430A>G |
- |
IntronicSNV |
- |
28/81 |
1 |
7-21691020-A-T |
c.4945-4430A>T |
- |
IntronicSNV |
- |
28/81 |
1 |
7-21691784-G-T |
c.4945-3666G>T |
- |
IntronicSNV |
- |
28/81 |
1 |
7-21692144-C-T |
c.4945-3306C>T |
- |
IntronicSNV |
- |
28/81 |
1 |
7-21695280-G-C |
c.4945-170G>C |
- |
IntronicSNV |
- |
28/81 |
2 |
7-21695280-G-T |
c.4945-170G>T |
- |
IntronicSNV |
- |
28/81 |
2 |
7-21695416-A-G |
c.4945-34A>G |
- |
IntronicSNV |
- |
28/81 |
5 |
7-21695438-T-C |
c.4945-12T>C |
- |
IntronicSNV |
- |
28/81 |
1 |
7-21695456-T-C |
c.4951T>C |
p.C1651R |
Missense |
29/82 |
- |
2 |
7-21695459-C-T |
c.4954C>T |
p.H1652Y |
Missense |
29/82 |
- |
2 |
7-21695464-T-G |
c.4959T>G |
p.L1653= |
Synonymous |
29/82 |
- |
1 |
7-21695466-C-G |
c.4961C>G |
p.A1654G |
Missense |
29/82 |
- |
1 |
7-21695469-A-G |
c.4964A>G |
p.K1655R |
Missense |
29/82 |
- |
1 |
7-21695471-C-G |
c.4966C>G |
p.L1656V |
Missense |
29/82 |
- |
1 |
7-21695476-C-T |
c.4971C>T |
p.F1657= |
Synonymous |
29/82 |
- |
1 |
7-21695477-G-A |
c.4972G>A |
p.D1658N |
Missense |
29/82 |
- |
2 |
7-21695479-C-G |
c.4974C>G |
p.D1658E |
Missense |
29/82 |
- |
1 |
7-21695481-G-A |
c.4976G>A |
p.S1659N |
Missense |
29/82 |
- |
2 |
7-21695484-T-C |
c.4979T>C |
p.I1660T |
Missense |
29/82 |
- |
1 |
7-21695489-G-C |
c.4984G>C |
p.D1662H |
Missense |
29/82 |
- |
1 |
7-21695490-A-T |
c.4985A>T |
p.D1662V |
Missense |
29/82 |
- |
1 |
7-21695495-C-A |
c.4990C>A |
p.Q1664K |
Missense |
29/82 |
- |
1 |
7-21695497-G-A |
c.4992G>A |
p.Q1664= |
Synonymous |
29/82 |
- |
1 |
7-21695500-T-G |
c.4995T>G |
p.F1665L |
Missense |
29/82 |
- |
1 |
7-21695502-A-G |
c.4997A>G |
p.E1666G |
Missense |
29/82 |
- |
1 |
7-21695504-G-A |
c.4999G>A |
p.D1667N |
Missense |
29/82 |
- |
2 |
7-21695504-G-T |
c.4999G>T |
p.D1667Y |
Missense |
29/82 |
- |
1 |
7-21695508-A-G |
c.5003A>G |
p.N1668S |
Missense |
29/82 |
- |
1 |
7-21695508-A-T |
c.5003A>T |
p.N1668I |
Missense |
29/82 |
- |
1 |
7-21695508-A-AT |
c.5004dup |
p.Q1669Sfs*26 |
Frameshift |
29/82 |
- |
1 |
7-21695510-C-G |
c.5005C>G |
p.Q1669E |
Missense |
29/82 |
- |
1 |
7-21695512-G-A |
c.5007G>A |
p.Q1669= |
Synonymous |
29/82 |
- |
1 |
7-21695513-G-A |
c.5008G>A |
p.D1670N |
Missense |
29/82 |
- |
2 |
7-21695513-G-C |
c.5008G>C |
p.D1670H |
Missense |
29/82 |
- |
1 |
7-21695514-A-G |
c.5009A>G |
p.D1670G |
Missense |
29/82 |
- |
1 |
7-21695520-C-T |
c.5015C>T |
p.S1672F |
Missense |
29/82 |
- |
2 |
7-21695523-C-A |
c.5018C>A |
p.A1673E |
Missense |
29/82 |
- |
1 |
7-21695525-C-T |
c.5020C>T |
p.H1674Y |
Missense |
29/82 |
- |
1 |
7-21695532-CA-AC |
c.5027_5028delinsAC |
p.A1676D |
Missense |
29/82 |
- |
1 |
7-21695533-A-G |
c.5028A>G |
p.A1676= |
Synonymous |
29/82 |
- |
1 |
7-21695538-G-A |
c.5033G>A |
p.G1678E |
Missense |
29/82 |
- |
2 |
7-21695538-G-C |
c.5033G>C |
p.G1678A |
Missense |
29/82 |
- |
2 |
7-21695540-A-T |
c.5035A>T |
p.M1679L |
Missense |
29/82 |
- |
1 |
7-21695541-T-C |
c.5036T>C |
p.M1679T |
Missense |
29/82 |
- |
1 |
7-21695547-G-T |
c.5042G>T |
p.S1681I |
Missense |
29/82 |
- |
1 |
7-21695550-A-C |
c.5045A>C |
p.K1682T |
Missense |
29/82 |
- |
1 |
7-21695552-G-T |
c.5047G>T |
p.E1683* |
Nonsense |
29/82 |
- |
2 |
7-21695556-A-C |
c.5051A>C |
p.K1684T |
Missense |
29/82 |
- |
1 |
7-21695557-G-T |
c.5052G>T |
p.K1684N |
Missense |
29/82 |
- |
1 |
7-21695558-G-A |
c.5053G>A |
p.E1685K |
Missense |
29/82 |
- |
2 |
7-21695558-G-T |
c.5053G>T |
p.E1685* |
Nonsense |
29/82 |
- |
1 |
7-21695564-G-A |
c.5059G>A |
p.V1687I |
Missense |
29/82 |
- |
1 |
7-21695567-C-T |
c.5062C>T |
p.P1688S |
Missense |
29/82 |
- |
1 |
7-21695568-C-A |
c.5063C>A |
p.P1688Q |
Missense |
29/82 |
- |
3 |
7-21695569-A-C |
c.5064A>C |
p.P1688= |
Synonymous |
29/82 |
- |
1 |
7-21695569-A-G |
c.5064A>G |
p.P1688= |
Synonymous |
29/82 |
- |
1 |
7-21695569-A-T |
c.5064A>T |
p.P1688= |
Synonymous |
29/82 |
- |
1 |
7-21695572-C-T |
c.5067C>T |
p.F1689= |
Synonymous |
29/82 |
- |
1 |
7-21695576-G-T |
c.5071G>T |
p.A1691S |
Missense |
29/82 |
- |
1 |
7-21695579-G-A |
c.5074G>A |
p.E1692K |
Missense |
29/82 |
- |
2 |
7-21695581-G-C |
c.5076G>C |
p.E1692D |
Missense |
29/82 |
- |
1 |
7-21695581-G-T |
c.5076G>T |
p.E1692D |
Missense |
29/82 |
- |
2 |
7-21695584-T-G |
c.5079T>G |
p.C1693W |
Missense |
29/82 |
- |
1 |
7-21695588-TG-AC |
c.5083_5084delinsAC |
p.C1695T |
Missense |
29/82 |
- |
1 |
7-21695589-G-A |
c.5084G>A |
p.C1695Y |
Missense |
29/82 |
- |
1 |
7-21695594-G-A |
c.5089G>A |
p.G1697S |
Missense |
29/82 |
- |
2 |
7-21695601-T-G |
c.5094+2T>G |
- |
IntronicSNV |
- |
29/81 |
1 |
7-21695649-G-A |
c.5094+50G>A |
- |
IntronicSNV |
- |
29/81 |
7 |
7-21697529-G-C |
c.5095-887G>C |
- |
IntronicSNV |
- |
29/81 |
1 |
7-21697779-A-T |
c.5095-637A>T |
- |
IntronicSNV |
- |
29/81 |
1 |
7-21698229-G-A |
c.5095-187G>A |
- |
IntronicSNV |
- |
29/81 |
1 |
7-21698229-G-C |
c.5095-187G>C |
- |
IntronicSNV |
- |
29/81 |
1 |
7-21698229-G-T |
c.5095-187G>T |
- |
IntronicSNV |
- |
29/81 |
1 |
7-21698319-G-T |
c.5095-97G>T |
- |
IntronicSNV |
- |
29/81 |
2 |
7-21698426-G-A |
c.5105G>A |
p.W1702* |
Nonsense |
30/82 |
- |
1 |
7-21698427-G-A |
c.5106G>A |
p.W1702* |
Nonsense |
30/82 |
- |
1 |
7-21698428-C-T |
c.5107C>T |
p.L1703F |
Missense |
30/82 |
- |
1 |
7-21698432-T-A |
c.5111T>A |
p.L1704Q |
Missense |
30/82 |
- |
1 |
7-21698433-G-T |
c.5112G>T |
p.L1704= |
Synonymous |
30/82 |
- |
1 |
7-21698439-T-A |
c.5118T>A |
p.L1706= |
Synonymous |
30/82 |
- |
1 |
7-21698439-T-C |
c.5118T>C |
p.L1706= |
Synonymous |
30/82 |
- |
1 |
7-21698439-T-G |
c.5118T>G |
p.L1706= |
Synonymous |
30/82 |
- |
1 |
7-21698443-C-A |
c.5122C>A |
p.Q1708K |
Missense |
30/82 |
- |
1 |
7-21698446-A-C |
c.5125A>C |
p.T1709P |
Missense |
30/82 |
- |
4 |
7-21698449-A-G |
c.5128A>G |
p.M1710V |
Missense |
30/82 |
- |
2 |
7-21698452-C-T |
c.5131C>T |
p.Q1711* |
Nonsense |
30/82 |
- |
1 |
7-21698453-A-G |
c.5132A>G |
p.Q1711R |
Missense |
30/82 |
- |
1 |
7-21698454-A-C |
c.5133A>C |
p.Q1711H |
Missense |
30/82 |
- |
1 |
7-21698454-A-G |
c.5133A>G |
p.Q1711= |
Synonymous |
30/82 |
- |
2 |
7-21698455-G-A |
c.5134G>A |
p.E1712K |
Missense |
30/82 |
- |
1 |
7-21698459-C-A |
c.5138C>A |
p.T1713K |
Missense |
30/82 |
- |
1 |
7-21698459-C-T |
c.5138C>T |
p.T1713M |
Missense |
30/82 |
- |
1 |
7-21698460-G-A |
c.5139G>A |
p.T1713= |
Synonymous |
30/82 |
- |
1 |
7-21698460-G-C |
c.5139G>C |
p.T1713= |
Synonymous |
30/82 |
- |
1 |
7-21698463-G-A |
c.5142G>A |
p.V1714= |
Synonymous |
30/82 |
- |
1 |
7-21698463-G-C |
c.5142G>C |
p.V1714= |
Synonymous |
30/82 |
- |
1 |
7-21698463-G-T |
c.5142G>T |
p.V1714= |
Synonymous |
30/82 |
- |
1 |
7-21698464-C-T |
c.5143C>T |
p.R1715C |
Missense |
30/82 |
- |
2 |
7-21698465-G-A |
c.5144G>A |
p.R1715H |
Missense |
30/82 |
- |
4 |
7-21698465-G-C |
c.5144G>C |
p.R1715P |
Missense |
30/82 |
- |
1 |
7-21698468-A-G |
c.5147A>G |
p.H1716R |
Missense |
30/82 |
- |
3 |
7-21698471-C-T |
c.5150C>T |
p.S1717F |
Missense |
30/82 |
- |
1 |
7-21698473-A-G |
c.5152A>G |
p.I1718V |
Missense |
30/82 |
- |
4 |
7-21698479-G-A |
c.5158G>A |
p.E1720K |
Missense |
30/82 |
- |
2 |
7-21698479-G-C |
c.5158G>C |
p.E1720Q |
Missense |
30/82 |
- |
1 |
7-21698483-C-A |
c.5162C>A |
p.A1721D |
Missense |
30/82 |
- |
2 |
7-21698486-T-C |
c.5165T>C |
p.I1722T |
Missense |
30/82 |
- |
1 |
7-21698489-T-G |
c.5168T>G |
p.V1723G |
Missense |
30/82 |
- |
1 |
7-21698491-G-A |
c.5170G>A |
p.A1724T |
Missense |
30/82 |
- |
1 |
7-21698492-C-A |
c.5171C>A |
p.A1724D |
Missense |
30/82 |
- |
1 |
7-21698492-C-T |
c.5171C>T |
p.A1724V |
Missense |
30/82 |
- |
1 |
7-21698496-C-T |
c.5175C>T |
p.Y1725= |
Synonymous |
30/82 |
- |
2 |
7-21698497-G-A |
c.5176G>A |
p.E1726K |
Missense |
30/82 |
- |
7 |
7-21698500-G-A |
c.5179G>A |
p.E1727K |
Missense |
30/82 |
- |
3 |
7-21698506-C-A |
c.5185C>A |
p.P1729T |
Missense |
30/82 |
- |
1 |
7-21698506-C-T |
c.5185C>T |
p.P1729S |
Missense |
30/82 |
- |
3 |
7-21698507-C-T |
c.5186C>T |
p.P1729L |
Missense |
30/82 |
- |
1 |
7-21698511-G-C |
c.5190G>C |
p.R1730S |
Missense |
30/82 |
- |
1 |
7-21698511-G-T |
c.5190G>T |
p.R1730S |
Missense |
30/82 |
- |
2 |
7-21698512-G-A |
c.5191G>A |
p.E1731K |
Missense |
30/82 |
- |
4 |
7-21698512-G-C |
c.5191G>C |
p.E1731Q |
Missense |
30/82 |
- |
1 |
7-21698517-G-T |
c.5196G>T |
p.L1732= |
Synonymous |
30/82 |
- |
1 |
7-21698519-G-A |
c.5198G>A |
p.W1733* |
Nonsense |
30/82 |
- |
2 |
7-21698520-G-A |
c.5199G>A |
p.W1733* |
Nonsense |
30/82 |
- |
3 |
7-21698520-G-C |
c.5199G>C |
p.W1733C |
Missense |
30/82 |
- |
1 |
7-21698520-G-T |
c.5199G>T |
p.W1733C |
Missense |
30/82 |
- |
1 |
7-21698527-G-A |
c.5206G>A |
p.D1736N |
Missense |
30/82 |
- |
1 |
7-21698530-T-C |
c.5209T>C |
p.F1737L |
Missense |
30/82 |
- |
1 |
7-21698532-C-A |
c.5211C>A |
p.F1737L |
Missense |
30/82 |
- |
1 |
7-21698532-C-G |
c.5211C>G |
p.F1737L |
Missense |
30/82 |
- |
1 |
7-21698532-C-T |
c.5211C>T |
p.F1737= |
Synonymous |
30/82 |
- |
1 |
7-21698542-G-A |
c.5221G>A |
p.V1741I |
Missense |
30/82 |
- |
1 |
7-21698545-G-A |
c.5224G>A |
p.A1742T |
Missense |
30/82 |
- |
1 |
7-21698548-C-T |
c.5227C>T |
p.L1743= |
Synonymous |
30/82 |
- |
1 |
7-21698550-A-C |
c.5229A>C |
p.L1743= |
Synonymous |
30/82 |
- |
1 |
7-21698550-A-G |
c.5229A>G |
p.L1743= |
Synonymous |
30/82 |
- |
1 |
7-21698550-A-T |
c.5229A>T |
p.L1743= |
Synonymous |
30/82 |
- |
1 |
7-21698553-C-A |
c.5232C>A |
p.T1744= |
Synonymous |
30/82 |
- |
1 |
7-21698553-C-G |
c.5232C>G |
p.T1744= |
Synonymous |
30/82 |
- |
1 |
7-21698553-C-T |
c.5232C>T |
p.T1744= |
Synonymous |
30/82 |
- |
1 |
7-21698554-A-G |
c.5233A>G |
p.S1745G |
Missense |
30/82 |
- |
1 |
7-21698558-C-T |
c.5237C>T |
p.S1746L |
Missense |
30/82 |
- |
1 |
7-21698562-A-G |
c.5241A>G |
p.Q1747= |
Synonymous |
30/82 |
- |
1 |
7-21698563-A-G |
c.5242A>G |
p.I1748V |
Missense |
30/82 |
- |
1 |
7-21698566-T-A |
c.5245T>A |
p.W1749R |
Missense |
30/82 |
- |
1 |
7-21698566-T-C |
c.5245T>C |
p.W1749R |
Missense |
30/82 |
- |
1 |
7-21698568-G-A |
c.5247G>A |
p.W1749* |
Nonsense |
30/82 |
- |
1 |
7-21698578-G-A |
c.5257G>A |
p.D1753N |
Missense |
30/82 |
- |
2 |
7-21698578-G-C |
c.5257G>C |
p.D1753H |
Missense |
30/82 |
- |
1 |
7-21698581-G-A |
c.5260G>A |
p.V1754I |
Missense |
30/82 |
- |
1 |
7-21698584-G-A |
c.5263G>A |
p.G1755R |
Missense |
30/82 |
- |
1 |
7-21698585-G-A |
c.5264G>A |
p.G1755E |
Missense |
30/82 |
- |
3 |
7-21698587-A-G |
c.5266A>G |
p.I1756V |
Missense |
30/82 |
- |
1 |
7-21698588-T-A |
c.5267T>A |
p.I1756K |
Missense |
30/82 |
- |
1 |
7-21698591-C-T |
c.5270C>T |
p.A1757V |
Missense |
30/82 |
- |
1 |
7-21698597-G-A |
c.5276G>A |
p.S1759N |
Missense |
30/82 |
- |
1 |
7-21698599-AGA-TGT |
c.5278_5280delinsTGT |
p.R1760C |
Missense |
30/82 |
- |
1 |
7-21698600-G-C |
c.5279G>C |
p.R1760T |
Missense |
30/82 |
- |
1 |
7-21698604-G-T |
c.5283G>T |
p.L1761= |
Synonymous |
30/82 |
- |
1 |
7-21698605-G-A |
c.5284G>A |
p.E1762K |
Missense |
30/82 |
- |
1 |
7-21698611-GG-AC |
c.5290_5291delinsAC |
p.G1764T |
Missense |
30/82 |
- |
1 |
7-21698616-C-T |
c.5295C>T |
p.Y1765= |
Synonymous |
30/82 |
- |
1 |
7-21698617-G-A |
c.5296G>A |
p.E1766K |
Missense |
30/82 |
- |
4 |
7-21698622-A-C |
c.5301A>C |
p.T1767= |
Synonymous |
30/82 |
- |
1 |
7-21698622-A-G |
c.5301A>G |
p.T1767= |
Synonymous |
30/82 |
- |
1 |
7-21698622-A-T |
c.5301A>T |
p.T1767= |
Synonymous |
30/82 |
- |
1 |
7-21698625-C-CTATGCAAGAAACGGTGCGTCATT |
c.5304_5305insTATGCAAGAAACGGTGCGTCATT |
p.L1769Yfs*9 |
Frameshift |
30/82 |
- |
1 |
7-21698626-C-T |
c.5305C>T |
p.L1769= |
Synonymous |
30/82 |
- |
1 |
7-21698631-G-A |
c.5310G>A |
p.K1770= |
Synonymous |
30/82 |
- |
1 |
7-21698631-G-C |
c.5310G>C |
p.K1770N |
Missense |
30/82 |
- |
1 |
7-21698631-G-T |
c.5310G>T |
p.K1770N |
Missense |
30/82 |
- |
1 |
7-21698632-G-A |
c.5311G>A |
p.D1771N |
Missense |
30/82 |
- |
3 |
7-21698633-A-T |
c.5312A>T |
p.D1771V |
Missense |
30/82 |
- |
1 |
7-21698637-C-T |
c.5316C>T |
p.F1772= |
Synonymous |
30/82 |
- |
2 |
7-21698638-C-T |
c.5317C>T |
p.H1773Y |
Missense |
30/82 |
- |
2 |
7-21698639-A-G |
c.5318A>G |
p.H1773R |
Missense |
30/82 |
- |
1 |
7-21698641-A-T |
c.5320A>T |
p.K1774* |
Nonsense |
30/82 |
- |
2 |
7-21698646-A-G |
c.5325A>G |
p.K1775= |
Synonymous |
30/82 |
- |
1 |
7-21698649-G-C |
c.5328G>C |
p.Q1776H |
Missense |
30/82 |
- |
1 |
7-21698650-G-T |
c.5328+1G>T |
- |
IntronicSNV |
- |
30/81 |
1 |
7-21698780-A-C |
c.5328+131A>C |
- |
IntronicSNV |
- |
30/81 |
1 |
7-21701444-AT-A |
c.5328+2805del |
- |
IntronicDeletion |
- |
30/81 |
1 |
7-21704005-T-C |
c.5328+5356T>C |
- |
IntronicSNV |
- |
30/81 |
1 |
7-21705160-CT-C |
c.5328+6519del |
- |
IntronicDeletion |
- |
30/81 |
1 |
7-21715525-C-T |
c.5329-5639C>T |
- |
IntronicSNV |
- |
30/81 |
1 |
7-21720159-T-A |
c.5329-1005T>A |
- |
IntronicSNV |
- |
30/81 |
1 |
7-21720159-T-G |
c.5329-1005T>G |
- |
IntronicSNV |
- |
30/81 |
1 |
7-21720934-A-G |
c.5329-230A>G |
- |
IntronicSNV |
- |
30/81 |
1 |
7-21721086-A-G |
c.5329-78A>G |
- |
IntronicSNV |
- |
30/81 |
1 |
7-21721130-C-A |
c.5329-34C>A |
- |
IntronicSNV |
- |
30/81 |
1 |
7-21721130-C-G |
c.5329-34C>G |
- |
IntronicSNV |
- |
30/81 |
1 |
7-21721134-C-G |
c.5329-30C>G |
- |
IntronicSNV |
- |
30/81 |
1 |
7-21721165-T-G |
c.5330T>G |
p.I1777S |
Missense |
31/82 |
- |
1 |
7-21721168-C-G |
c.5333C>G |
p.S1778C |
Missense |
31/82 |
- |
1 |
7-21721170-C-G |
c.5335C>G |
p.Q1779E |
Missense |
31/82 |
- |
1 |
7-21721170-C-T |
c.5335C>T |
p.Q1779* |
Nonsense |
31/82 |
- |
5 |
7-21721173-C-T |
c.5338C>T |
p.L1780= |
Synonymous |
31/82 |
- |
1 |
7-21721179-A-C |
c.5344A>C |
p.T1782P |
Missense |
31/82 |
- |
1 |
7-21721179-A-G |
c.5344A>G |
p.T1782A |
Missense |
31/82 |
- |
1 |
7-21721184-G-A |
c.5349G>A |
p.L1783= |
Synonymous |
31/82 |
- |
1 |
7-21721189-C-T |
c.5354C>T |
p.T1785I |
Missense |
31/82 |
- |
1 |
7-21721194-T-C |
c.5359T>C |
p.L1787= |
Synonymous |
31/82 |
- |
2 |
7-21721196-G-A |
c.5361G>A |
p.L1787= |
Synonymous |
31/82 |
- |
1 |
7-21721197-C-T |
c.5362C>T |
p.L1788= |
Synonymous |
31/82 |
- |
1 |
7-21721199-G-A |
c.5364G>A |
p.L1788= |
Synonymous |
31/82 |
- |
3 |
7-21721199-G-C |
c.5364G>C |
p.L1788= |
Synonymous |
31/82 |
- |
1 |
7-21721199-G-T |
c.5364G>T |
p.L1788= |
Synonymous |
31/82 |
- |
1 |
7-21721200-G-A |
c.5365G>A |
p.G1789R |
Missense |
31/82 |
- |
1 |
7-21721200-G-C |
c.5365G>C |
p.G1789R |
Missense |
31/82 |
- |
1 |
7-21721201-G-T |
c.5366G>T |
p.G1789V |
Missense |
31/82 |
- |
1 |
7-21721202-GA-G |
c.5367del |
p.E1790Nfs*11 |
Frameshift |
31/82 |
- |
1 |
7-21721203-G-A |
c.5368G>A |
p.E1790K |
Missense |
31/82 |
- |
1 |
7-21721203-G-T |
c.5368G>T |
p.E1790* |
Nonsense |
31/82 |
- |
1 |
7-21721207-T-C |
c.5372T>C |
p.L1791P |
Missense |
31/82 |
- |
1 |
7-21721208-T-G |
c.5373T>G |
p.L1791= |
Synonymous |
31/82 |
- |
1 |
7-21721215-G-T |
c.5380G>T |
p.G1794* |
Nonsense |
31/82 |
- |
1 |
7-21721218-G-A |
c.5383G>A |
p.D1795N |
Missense |
31/82 |
- |
1 |
7-21721219-A-G |
c.5384A>G |
p.D1795G |
Missense |
31/82 |
- |
2 |
7-21721225-A-G |
c.5390A>G |
p.Q1797R |
Missense |
31/82 |
- |
1 |
7-21721228-A-G |
c.5393A>G |
p.K1798R |
Missense |
31/82 |
- |
1 |
7-21721230-A-C |
c.5395A>C |
p.I1799L |
Missense |
31/82 |
- |
1 |
7-21721232-C-T |
c.5397C>T |
p.I1799= |
Synonymous |
31/82 |
- |
1 |
7-21721235-G-A |
c.5400G>A |
p.M1800I |
Missense |
31/82 |
- |
1 |
7-21721236-A-C |
c.5401A>C |
p.T1801P |
Missense |
31/82 |
- |
1 |
7-21721235-GACA-G |
c.5402_5404del |
p.T1801del |
InFrameDeletion |
31/82 |
- |
1 |
7-21721243-G-T |
c.5408G>T |
p.C1803F |
Missense |
31/82 |
- |
1 |
7-21721244-T-A |
c.5409T>A |
p.C1803* |
Nonsense |
31/82 |
- |
1 |
7-21721245-A-G |
c.5410A>G |
p.T1804A |
Missense |
31/82 |
- |
2 |
7-21721246-C-T |
c.5411C>T |
p.T1804I |
Missense |
31/82 |
- |
1 |
7-21721247-C-A |
c.5412C>A |
p.T1804= |
Synonymous |
31/82 |
- |
1 |
7-21721247-C-G |
c.5412C>G |
p.T1804= |
Synonymous |
31/82 |
- |
1 |
7-21721247-C-T |
c.5412C>T |
p.T1804= |
Synonymous |
31/82 |
- |
3 |
7-21721248-A-G |
c.5413A>G |
p.I1805V |
Missense |
31/82 |
- |
1 |
7-21721251-G-A |
c.5416G>A |
p.D1806N |
Missense |
31/82 |
- |
1 |
7-21721257-C-T |
c.5422C>T |
p.H1808Y |
Missense |
31/82 |
- |
1 |
7-21721259-T-A |
c.5424T>A |
p.H1808Q |
Missense |
31/82 |
- |
1 |
7-21721261-C-T |
c.5426C>T |
p.A1809V |
Missense |
31/82 |
- |
1 |
7-21721263-A-G |
c.5428A>G |
p.R1810G |
Missense |
31/82 |
- |
1 |
7-21721264-G-A |
c.5429G>A |
p.R1810K |
Missense |
31/82 |
- |
2 |
7-21721266-G-T |
c.5431G>T |
p.D1811Y |
Missense |
31/82 |
- |
1 |
7-21721269-G-A |
c.5434G>A |
p.V1812M |
Missense |
31/82 |
- |
1 |
7-21721273-T-G |
c.5438T>G |
p.V1813G |
Missense |
31/82 |
- |
1 |
7-21721275-G-A |
c.5440G>A |
p.A1814T |
Missense |
31/82 |
- |
2 |
7-21721279-A-G |
c.5444A>G |
p.K1815R |
Missense |
31/82 |
- |
1 |
7-21721281-C-G |
c.5446C>G |
p.L1816V |
Missense |
31/82 |
- |
1 |
7-21721282-T-A |
c.5447T>A |
p.L1816H |
Missense |
31/82 |
- |
1 |
7-21721288-C-A |
c.5453C>A |
p.S1818Y |
Missense |
31/82 |
- |
2 |
7-21721288-C-T |
c.5453C>T |
p.S1818F |
Missense |
31/82 |
- |
3 |
7-21721292-G-C |
c.5457G>C |
p.Q1819H |
Missense |
31/82 |
- |
1 |
7-21721300-G-C |
c.5460+5G>C |
- |
IntronicSNV |
- |
31/81 |
1 |
7-21721301-T-C |
c.5460+6T>C |
- |
IntronicSNV |
- |
31/81 |
1 |
7-21721378-G-A |
c.5460+83G>A |
- |
IntronicSNV |
- |
31/81 |
1 |
7-21721420-A-T |
c.5460+125A>T |
- |
IntronicSNV |
- |
31/81 |
1 |
7-21722168-A-T |
c.5460+873A>T |
- |
IntronicSNV |
- |
31/81 |
1 |
7-21722330-C-T |
c.5460+1035C>T |
- |
IntronicSNV |
- |
31/81 |
1 |
7-21723355-C-G |
c.5461-47C>G |
- |
IntronicSNV |
- |
31/81 |
1 |
7-21723355-C-T |
c.5461-47C>T |
- |
IntronicSNV |
- |
31/81 |
1 |
7-21723403-T-A |
c.5462T>A |
p.V1821D |
Missense |
32/82 |
- |
1 |
7-21723407-C-CT |
c.5466_5467insT |
p.S1823* |
Nonsense |
32/82 |
- |
1 |
7-21723407-C-T |
c.5466C>T |
p.V1822= |
Synonymous |
32/82 |
- |
1 |
7-21723408-AG-TA |
c.5467_5468delinsTA |
p.S1823Y |
Missense |
32/82 |
- |
2 |
7-21723412-C-T |
c.5471C>T |
p.P1824L |
Missense |
32/82 |
- |
2 |
7-21723410-T-TC |
c.5473dup |
p.Q1825Pfs*23 |
Frameshift |
32/82 |
- |
3 |
7-21723416-A-G |
c.5475A>G |
p.Q1825= |
Synonymous |
32/82 |
- |
1 |
7-21723422-T-C |
c.5481T>C |
p.F1827= |
Synonymous |
32/82 |
- |
1 |
7-21723424-C-T |
c.5483C>T |
p.T1828I |
Missense |
32/82 |
- |
1 |
7-21723429-C-T |
c.5488C>T |
p.L1830= |
Synonymous |
32/82 |
- |
5 |
7-21723431-G-A |
c.5490G>A |
p.L1830= |
Synonymous |
32/82 |
- |
16 |
7-21723431-G-C |
c.5490G>C |
p.L1830= |
Synonymous |
32/82 |
- |
5 |
7-21723431-G-T |
c.5490G>T |
p.L1830= |
Synonymous |
32/82 |
- |
5 |
7-21723432-T-A |
c.5491T>A |
p.S1831T |
Missense |
32/82 |
- |
3 |
7-21723437-A-G |
c.5496A>G |
p.Q1832= |
Synonymous |
32/82 |
- |
1 |
7-21723437-A-T |
c.5496A>T |
p.Q1832H |
Missense |
32/82 |
- |
2 |
7-21723441-C-G |
c.5500C>G |
p.R1834G |
Missense |
32/82 |
- |
2 |
7-21723441-C-T |
c.5500C>T |
p.R1834C |
Missense |
32/82 |
- |
10 |
7-21723442-G-A |
c.5501G>A |
p.R1834H |
Missense |
32/82 |
- |
4 |
7-21723442-G-T |
c.5501G>T |
p.R1834L |
Missense |
32/82 |
- |
1 |
7-21723447-C-G |
c.5506C>G |
p.R1836G |
Missense |
32/82 |
- |
1 |
7-21723447-C-T |
c.5506C>T |
p.R1836* |
Nonsense |
32/82 |
- |
5 |
7-21723448-G-A |
c.5507G>A |
p.R1836Q |
Missense |
32/82 |
- |
4 |
7-21723452-G-A |
c.5511G>A |
p.W1837* |
Nonsense |
32/82 |
- |
2 |
7-21723452-GGGAGGATACCCAGAA-G |
c.5511_5525del |
p.W1837_K1842delins* |
MultiAAMissense |
32/82 |
- |
1 |
7-21723453-G-T |
c.5512G>T |
p.E1838* |
Nonsense |
32/82 |
- |
2 |
7-21723453-GAGGATACCCAGAAAC-G |
c.5514_5528del |
p.E1838_H1843delinsD |
MultiAAMissense |
32/82 |
- |
1 |
7-21723456-G-A |
c.5515G>A |
p.D1839N |
Missense |
32/82 |
- |
1 |
7-21723460-C-T |
c.5519C>T |
p.T1840I |
Missense |
32/82 |
- |
1 |
7-21723461-C-A |
c.5520C>A |
p.T1840= |
Synonymous |
32/82 |
- |
1 |
7-21723461-C-G |
c.5520C>G |
p.T1840= |
Synonymous |
32/82 |
- |
1 |
7-21723461-C-T |
c.5520C>T |
p.T1840= |
Synonymous |
32/82 |
- |
1 |
7-21723462-C-T |
c.5521C>T |
p.Q1841* |
Nonsense |
32/82 |
- |
1 |
7-21723468-C-T |
c.5527C>T |
p.H1843Y |
Missense |
32/82 |
- |
2 |
7-21723472-G-A |
c.5531G>A |
p.C1844Y |
Missense |
32/82 |
- |
1 |
7-21723475-T-C |
c.5534T>C |
p.F1845S |
Missense |
32/82 |
- |
1 |
7-21723484-T-C |
c.5543T>C |
p.I1848T |
Missense |
32/82 |
- |
1 |
7-21723484-T-G |
c.5543T>G |
p.I1848S |
Missense |
32/82 |
- |
4 |
7-21723485-T-C |
c.5544T>C |
p.I1848= |
Synonymous |
32/82 |
- |
1 |
7-21723485-T-G |
c.5544T>G |
p.I1848M |
Missense |
32/82 |
- |
1 |
7-21723492-G-A |
c.5551G>A |
p.A1851T |
Missense |
32/82 |
- |
1 |
7-21723493-C-T |
c.5552C>T |
p.A1851V |
Missense |
32/82 |
- |
1 |
7-21723495-C-A |
c.5554C>A |
p.Q1852K |
Missense |
32/82 |
- |
1 |
7-21723497-G-A |
c.5556G>A |
p.Q1852= |
Synonymous |
32/82 |
- |
1 |
7-21723498-T-C |
c.5557T>C |
p.F1853L |
Missense |
32/82 |
- |
3 |
7-21723500-C-A |
c.5559C>A |
p.F1853L |
Missense |
32/82 |
- |
3 |
7-21723500-C-G |
c.5559C>G |
p.F1853L |
Missense |
32/82 |
- |
4 |
7-21723499-T-C |
c.5558T>C |
p.F1853S |
Missense |
32/82 |
- |
1 |
7-21723500-C-T |
c.5559C>T |
p.F1853= |
Synonymous |
32/82 |
- |
1 |
7-21723501-C-T |
c.5560C>T |
p.Q1854* |
Nonsense |
32/82 |
- |
1 |
7-21723504-T-C |
c.5563T>C |
p.Y1855H |
Missense |
32/82 |
- |
1 |
7-21723507-T-C |
c.5566T>C |
p.F1856L |
Missense |
32/82 |
- |
1 |
7-21723509-C-A |
c.5568C>A |
p.F1856L |
Missense |
32/82 |
- |
1 |
7-21723509-C-G |
c.5568C>G |
p.F1856L |
Missense |
32/82 |
- |
2 |
7-21723519-T-G |
c.5578T>G |
p.L1860V |
Missense |
32/82 |
- |
1 |
7-21723518-CT-C |
c.5579del |
p.L1860* |
Frameshift |
32/82 |
- |
1 |
7-21723520-T-C |
c.5579T>C |
p.L1860S |
Missense |
32/82 |
- |
1 |
7-21723522-G-A |
c.5581G>A |
p.G1861R |
Missense |
32/82 |
- |
1 |
7-21723522-G-C |
c.5581G>C |
p.G1861R |
Missense |
32/82 |
- |
1 |
7-21723523-G-A |
c.5582G>A |
p.G1861E |
Missense |
32/82 |
- |
1 |
7-21723529-G-C |
c.5588G>C |
p.S1863T |
Missense |
32/82 |
- |
1 |
7-21723530-C-A |
c.5589C>A |
p.S1863R |
Missense |
32/82 |
- |
1 |
7-21723532-C-G |
c.5591C>G |
p.P1864R |
Missense |
32/82 |
- |
1 |
7-21723535-G-A |
c.5594G>A |
p.R1865Q |
Missense |
32/82 |
- |
3 |
7-21723535-GA-AT |
c.5594_5595delinsAT |
p.R1865H |
Missense |
32/82 |
- |
1 |
7-21723539-A-G |
c.5598A>G |
p.L1866= |
Synonymous |
32/82 |
- |
1 |
7-21723549-C-T |
c.5608C>T |
p.P1870S |
Missense |
32/82 |
- |
5 |
7-21723550-C-T |
c.5609C>T |
p.P1870L |
Missense |
32/82 |
- |
1 |
7-21723552-C-T |
c.5611C>T |
p.L1871= |
Synonymous |
32/82 |
- |
3 |
7-21723555-A-T |
c.5614A>T |
p.T1872S |
Missense |
32/82 |
- |
1 |
7-21723556-C-A |
c.5615C>A |
p.T1872N |
Missense |
32/82 |
- |
1 |
7-21723556-C-G |
c.5615C>G |
p.T1872S |
Missense |
32/82 |
- |
1 |
7-21723556-C-T |
c.5615C>T |
p.T1872I |
Missense |
32/82 |
- |
1 |
7-21723560-C-T |
c.5619C>T |
p.D1873= |
Synonymous |
32/82 |
- |
1 |
7-21723562-G-A |
c.5621G>A |
p.R1874K |
Missense |
32/82 |
- |
1 |
7-21723573-A-T |
c.5621+11A>T |
- |
IntronicSNV |
- |
32/81 |
4 |
7-21723574-A-T |
c.5621+12A>T |
- |
IntronicSNV |
- |
32/81 |
1 |
7-21723679-T-C |
c.5621+117T>C |
- |
IntronicSNV |
- |
32/81 |
2 |
7-21726717-G-A |
c.5622G>A |
p.R1874= |
Synonymous |
33/82 |
- |
1 |
7-21726718-TG-AC |
c.5623_5624delinsAC |
p.C1875T |
Missense |
33/82 |
- |
1 |
7-21726728-C-T |
c.5633C>T |
p.T1878I |
Missense |
33/82 |
- |
1 |
7-21726729-C-T |
c.5634C>T |
p.T1878= |
Synonymous |
33/82 |
- |
1 |
7-21726730-T-C |
c.5635T>C |
p.L1879= |
Synonymous |
33/82 |
- |
2 |
7-21726732-A-G |
c.5637A>G |
p.L1879= |
Synonymous |
33/82 |
- |
2 |
7-21726731-T-A |
c.5636T>A |
p.L1879* |
Nonsense |
33/82 |
- |
3 |
7-21726731-T-C |
c.5636T>C |
p.L1879S |
Missense |
33/82 |
- |
1 |
7-21726732-A-C |
c.5637A>C |
p.L1879F |
Missense |
33/82 |
- |
1 |
7-21726735-T-A |
c.5640T>A |
p.T1880= |
Synonymous |
33/82 |
- |
1 |
7-21726735-T-C |
c.5640T>C |
p.T1880= |
Synonymous |
33/82 |
- |
1 |
7-21726735-T-G |
c.5640T>G |
p.T1880= |
Synonymous |
33/82 |
- |
1 |
7-21726738-A-C |
c.5643A>C |
p.Q1881H |
Missense |
33/82 |
- |
1 |
7-21726738-A-T |
c.5643A>T |
p.Q1881H |
Missense |
33/82 |
- |
2 |
7-21726739-T-G |
c.5644T>G |
p.S1882A |
Missense |
33/82 |
- |
1 |
7-21726742-C-T |
c.5647C>T |
p.L1883F |
Missense |
33/82 |
- |
1 |
7-21726746-A-G |
c.5651A>G |
p.H1884R |
Missense |
33/82 |
- |
1 |
7-21726752-C-G |
c.5657C>G |
p.T1886S |
Missense |
33/82 |
- |
1 |
7-21726755-T-C |
c.5660T>C |
p.M1887T |
Missense |
33/82 |
- |
1 |
7-21726760-G-A |
c.5665G>A |
p.G1889R |
Missense |
33/82 |
- |
3 |
7-21726761-G-T |
c.5666G>T |
p.G1889V |
Missense |
33/82 |
- |
1 |
7-21726762-G-A |
c.5667G>A |
p.G1889= |
Synonymous |
33/82 |
- |
1 |
7-21726764-C-G |
c.5669C>G |
p.A1890G |
Missense |
33/82 |
- |
1 |
7-21726769-G-A |
c.5674G>A |
p.A1892T |
Missense |
33/82 |
- |
1 |
7-21726772-G-A |
c.5677G>A |
p.G1893S |
Missense |
33/82 |
- |
1 |
7-21726772-G-T |
c.5677G>T |
p.G1893C |
Missense |
33/82 |
- |
2 |
7-21726773-G-C |
c.5678G>C |
p.G1893A |
Missense |
33/82 |
- |
1 |
7-21726773-G-T |
c.5678G>T |
p.G1893V |
Missense |
33/82 |
- |
1 |
7-21726775-C-T |
c.5680C>T |
p.P1894S |
Missense |
33/82 |
- |
1 |
7-21726778-G-C |
c.5683G>C |
p.A1895P |
Missense |
33/82 |
- |
1 |
7-21726786-C-T |
c.5691C>T |
p.T1897= |
Synonymous |
33/82 |
- |
1 |
7-21726787-G-A |
c.5692G>A |
p.G1898R |
Missense |
33/82 |
- |
1 |
7-21726788-G-T |
c.5693G>T |
p.G1898V |
Missense |
33/82 |
- |
1 |
7-21726789-G-A |
c.5694G>A |
p.G1898= |
Synonymous |
33/82 |
- |
1 |
7-21726789-G-C |
c.5694G>C |
p.G1898= |
Synonymous |
33/82 |
- |
1 |
7-21726789-G-T |
c.5694G>T |
p.G1898= |
Synonymous |
33/82 |
- |
1 |
7-21726790-A-G |
c.5695A>G |
p.K1899E |
Missense |
33/82 |
- |
1 |
7-21726792-AAC-A |
c.5699_5700del |
p.T1900Rfs*33 |
Frameshift |
33/82 |
- |
1 |
7-21726796-G-A |
c.5701G>A |
p.E1901K |
Missense |
33/82 |
- |
2 |
7-21726796-G-C |
c.5701G>C |
p.E1901Q |
Missense |
33/82 |
- |
1 |
7-21726797-A-C |
c.5702A>C |
p.E1901A |
Missense |
33/82 |
- |
6 |
7-21726797-A-G |
c.5702A>G |
p.E1901G |
Missense |
33/82 |
- |
1 |
7-21726801-C-T |
c.5706C>T |
p.T1902= |
Synonymous |
33/82 |
- |
1 |
7-21726808-G-T |
c.5713G>T |
p.D1905Y |
Missense |
33/82 |
- |
1 |
7-21726817-C-A |
c.5722C>A |
p.R1908S |
Missense |
33/82 |
- |
2 |
7-21726817-C-T |
c.5722C>T |
p.R1908C |
Missense |
33/82 |
- |
1 |
7-21726818-G-A |
c.5723G>A |
p.R1908H |
Missense |
33/82 |
- |
1 |
7-21726822-C-A |
c.5727C>A |
p.A1909= |
Synonymous |
33/82 |
- |
1 |
7-21726822-C-G |
c.5727C>G |
p.A1909= |
Synonymous |
33/82 |
- |
1 |
7-21726822-C-T |
c.5727C>T |
p.A1909= |
Synonymous |
33/82 |
- |
2 |
7-21726823-C-T |
c.5728C>T |
p.L1910F |
Missense |
33/82 |
- |
2 |
7-21726827-G-A |
c.5732G>A |
p.G1911D |
Missense |
33/82 |
- |
1 |
7-21726835-G-T |
c.5740G>T |
p.V1914F |
Missense |
33/82 |
- |
1 |
7-21726839-A-G |
c.5744A>G |
p.Y1915C |
Missense |
33/82 |
- |
1 |
7-21726850-T-A |
c.5755T>A |
p.C1919S |
Missense |
33/82 |
- |
1 |
7-21726851-G-C |
c.5756G>C |
p.C1919S |
Missense |
33/82 |
- |
1 |
7-21726856-G-A |
c.5761G>A |
p.E1921K |
Missense |
33/82 |
- |
1 |
7-21726856-G-T |
c.5761G>T |
p.E1921* |
Nonsense |
33/82 |
- |
1 |
7-21726860-A-G |
c.5765A>G |
p.Q1922R |
Missense |
33/82 |
- |
1 |
7-21726865-G-C |
c.5770G>C |
p.D1924H |
Missense |
33/82 |
- |
1 |
7-21726874-G-A |
c.5778+1G>A |
- |
IntronicSNV |
- |
33/81 |
5 |
7-21726879-T-G |
c.5778+6T>G |
- |
IntronicSNV |
- |
33/81 |
1 |
7-21727000-T-C |
c.5779T>C |
p.S1927P |
Missense |
34/82 |
- |
1 |
7-21727002-C-T |
c.5781C>T |
p.S1927= |
Synonymous |
34/82 |
- |
1 |
7-21727007-G-A |
c.5786G>A |
p.G1929D |
Missense |
34/82 |
- |
1 |
7-21727008-C-A |
c.5787C>A |
p.G1929= |
Synonymous |
34/82 |
- |
1 |
7-21727008-C-G |
c.5787C>G |
p.G1929= |
Synonymous |
34/82 |
- |
1 |
7-21727008-C-T |
c.5787C>T |
p.G1929= |
Synonymous |
34/82 |
- |
1 |
7-21727011-T-C |
c.5790T>C |
p.N1930= |
Synonymous |
34/82 |
- |
2 |
7-21727011-T-TTC |
c.5790_5791insTC |
p.I1931Sfs*33 |
Frameshift |
34/82 |
- |
1 |
7-21727014-C-CT |
c.5794dup |
p.Y1932Lfs*2 |
Frameshift |
34/82 |
- |
1 |
7-21727015-T-C |
c.5794T>C |
p.Y1932H |
Missense |
34/82 |
- |
1 |
7-21727016-A-C |
c.5795A>C |
p.Y1932S |
Missense |
34/82 |
- |
1 |
7-21727016-A-G |
c.5795A>G |
p.Y1932C |
Missense |
34/82 |
- |
2 |
7-21727019-A-C |
c.5798A>C |
p.K1933T |
Missense |
34/82 |
- |
1 |
7-21727020-G-A |
c.5799G>A |
p.K1933= |
Synonymous |
34/82 |
- |
1 |
7-21727024-T-C |
c.5803T>C |
p.L1935= |
Synonymous |
34/82 |
- |
2 |
7-21727026-G-A |
c.5805G>A |
p.L1935= |
Synonymous |
34/82 |
- |
1 |
7-21727026-G-C |
c.5805G>C |
p.L1935F |
Missense |
34/82 |
- |
2 |
7-21727027-G-A |
c.5806G>A |
p.V1936M |
Missense |
34/82 |
- |
3 |
7-21727028-T-A |
c.5807T>A |
p.V1936E |
Missense |
34/82 |
- |
2 |
7-21727036-G-A |
c.5815G>A |
p.G1939R |
Missense |
34/82 |
- |
4 |
7-21727036-G-C |
c.5815G>C |
p.G1939R |
Missense |
34/82 |
- |
1 |
7-21727043-G-C |
c.5822G>C |
p.W1941S |
Missense |
34/82 |
- |
3 |
7-21727046-G-C |
c.5825G>C |
p.G1942A |
Missense |
34/82 |
- |
1 |
7-21727057-G-A |
c.5836G>A |
p.E1946K |
Missense |
34/82 |
- |
1 |
7-21727058-GA-G |
c.5837del |
p.E1946Gfs*17 |
Frameshift |
34/82 |
- |
1 |
7-21727059-G-A |
c.5838G>A |
p.E1946= |
Synonymous |
34/82 |
- |
2 |
7-21727064-ACCGAATCT-A |
c.5845_5852del |
p.R1949Cfs*16 |
Frameshift |
34/82 |
- |
1 |
7-21727067-G-A |
c.5846G>A |
p.R1949Q |
Missense |
34/82 |
- |
5 |
7-21727073-C-T |
c.5852C>T |
p.S1951F |
Missense |
34/82 |
- |
2 |
7-21727076-T-A |
c.5855T>A |
p.V1952E |
Missense |
34/82 |
- |
1 |
7-21727078-G-T |
c.5857G>T |
p.E1953* |
Nonsense |
34/82 |
- |
1 |
7-21727096-G-A |
c.5875G>A |
p.A1959T |
Missense |
34/82 |
- |
1 |
7-21727099-G-A |
c.5878G>A |
p.V1960I |
Missense |
34/82 |
- |
3 |
7-21727103-A-T |
c.5882A>T |
p.Q1961L |
Missense |
34/82 |
- |
1 |
7-21727107-G-A |
c.5886G>A |
p.V1962= |
Synonymous |
34/82 |
- |
1 |
7-21727107-G-C |
c.5886G>C |
p.V1962= |
Synonymous |
34/82 |
- |
1 |
7-21727107-G-T |
c.5886G>T |
p.V1962= |
Synonymous |
34/82 |
- |
1 |
7-21727112-T-C |
c.5891T>C |
p.M1964T |
Missense |
34/82 |
- |
1 |
7-21727124-C-T |
c.5903C>T |
p.A1968V |
Missense |
34/82 |
- |
2 |
7-21727128-C-T |
c.5907C>T |
p.I1969= |
Synonymous |
34/82 |
- |
1 |
7-21727129-A-G |
c.5908A>G |
p.R1970G |
Missense |
34/82 |
- |
1 |
7-21727129-AGA-CAT |
c.5908_5910delinsCAT |
p.R1970H |
Missense |
34/82 |
- |
1 |
7-21727130-G-A |
c.5909G>A |
p.R1970K |
Missense |
34/82 |
- |
1 |
7-21727135-A-T |
c.5914A>T |
p.R1972W |
Missense |
34/82 |
- |
1 |
7-21727137-G-A |
c.5916G>A |
p.R1972= |
Synonymous |
34/82 |
- |
2 |
7-21727140-G-A |
c.5919G>A |
p.K1973= |
Synonymous |
34/82 |
- |
1 |
7-21727140-G-T |
c.5919G>T |
p.K1973N |
Missense |
34/82 |
- |
1 |
7-21727141-A-G |
c.5920A>G |
p.K1974E |
Missense |
34/82 |
- |
1 |
7-21727146-G-C |
c.5924+1G>C |
- |
IntronicSNV |
- |
34/81 |
1 |
7-21727186-A-G |
c.5924+41A>G |
- |
IntronicSNV |
- |
34/81 |
2 |
7-21727271-C-T |
c.5924+126C>T |
- |
IntronicSNV |
- |
34/81 |
1 |
7-21730209-A-G |
c.5925-174A>G |
- |
IntronicSNV |
- |
34/81 |
1 |
7-21730223-A-G |
c.5925-160A>G |
- |
IntronicSNV |
- |
34/81 |
1 |
7-21730326-A-G |
c.5925-57A>G |
- |
IntronicSNV |
- |
34/81 |
1 |
7-21730386-T-C |
c.5928T>C |
p.F1976= |
Synonymous |
35/82 |
- |
2 |
7-21730390-T-G |
c.5932T>G |
p.F1978V |
Missense |
35/82 |
- |
1 |
7-21730390-TTTC-T |
c.5935_5937del |
p.L1979del |
InFrameDeletion |
35/82 |
- |
1 |
7-21730393-C-A |
c.5935C>A |
p.L1979I |
Missense |
35/82 |
- |
1 |
7-21730394-T-C |
c.5936T>C |
p.L1979P |
Missense |
35/82 |
- |
1 |
7-21730396-G-T |
c.5938G>T |
p.G1980W |
Missense |
35/82 |
- |
2 |
7-21730398-G-A |
c.5940G>A |
p.G1980= |
Synonymous |
35/82 |
- |
3 |
7-21730398-G-C |
c.5940G>C |
p.G1980= |
Synonymous |
35/82 |
- |
2 |
7-21730398-G-T |
c.5940G>T |
p.G1980= |
Synonymous |
35/82 |
- |
2 |
7-21730399-G-A |
c.5941G>A |
p.E1981K |
Missense |
35/82 |
- |
2 |
7-21730401-A-G |
c.5943A>G |
p.E1981= |
Synonymous |
35/82 |
- |
1 |
7-21730404-T-A |
c.5946T>A |
p.A1982= |
Synonymous |
35/82 |
- |
1 |
7-21730404-T-C |
c.5946T>C |
p.A1982= |
Synonymous |
35/82 |
- |
1 |
7-21730404-T-G |
c.5946T>G |
p.A1982= |
Synonymous |
35/82 |
- |
1 |
7-21730405-A-T |
c.5947A>T |
p.I1983F |
Missense |
35/82 |
- |
1 |
7-21730409-C-T |
c.5951C>T |
p.T1984I |
Missense |
35/82 |
- |
3 |
7-21730414-A-T |
c.5956A>T |
p.K1986* |
Nonsense |
35/82 |
- |
1 |
7-21730417-C-T |
c.5959C>T |
p.P1987S |
Missense |
35/82 |
- |
1 |
7-21730420-T-A |
c.5962T>A |
p.S1988T |
Missense |
35/82 |
- |
1 |
7-21730422-A-G |
c.5964A>G |
p.S1988= |
Synonymous |
35/82 |
- |
1 |
7-21730427-G-C |
c.5969G>C |
p.G1990A |
Missense |
35/82 |
- |
2 |
7-21730432-T-C |
c.5974T>C |
p.F1992L |
Missense |
35/82 |
- |
1 |
7-21730436-T-C |
c.5978T>C |
p.I1993T |
Missense |
35/82 |
- |
1 |
7-21730438-A-G |
c.5980A>G |
p.T1994A |
Missense |
35/82 |
- |
2 |
7-21730439-C-T |
c.5981C>T |
p.T1994I |
Missense |
35/82 |
- |
1 |
7-21730442-T-C |
c.5984T>C |
p.M1995T |
Missense |
35/82 |
- |
1 |
7-21730446-C-A |
c.5988C>A |
p.N1996K |
Missense |
35/82 |
- |
1 |
7-21730447-C-T |
c.5989C>T |
p.P1997S |
Missense |
35/82 |
- |
1 |
7-21730442-TGAACCCGGGTTATGCTGGTC-T |
c.5990_6009del |
p.P1997Rfs*19 |
Frameshift |
35/82 |
- |
1 |
7-21730448-C-A |
c.5990C>A |
p.P1997Q |
Missense |
35/82 |
- |
1 |
7-21730448-C-T |
c.5990C>T |
p.P1997L |
Missense |
35/82 |
- |
1 |
7-21730449-G-A |
c.5991G>A |
p.P1997= |
Synonymous |
35/82 |
- |
1 |
7-21730449-G-C |
c.5991G>C |
p.P1997= |
Synonymous |
35/82 |
- |
1 |
7-21730449-G-T |
c.5991G>T |
p.P1997= |
Synonymous |
35/82 |
- |
1 |
7-21730451-G-C |
c.5993G>C |
p.G1998A |
Missense |
35/82 |
- |
1 |
7-21730453-T-C |
c.5995T>C |
p.Y1999H |
Missense |
35/82 |
- |
1 |
7-21730457-C-A |
c.5999C>A |
p.A2000D |
Missense |
35/82 |
- |
1 |
7-21730458-T-A |
c.6000T>A |
p.A2000= |
Synonymous |
35/82 |
- |
1 |
7-21730459-G-A |
c.6001G>A |
p.G2001S |
Missense |
35/82 |
- |
1 |
7-21730462-C-T |
c.6004C>T |
p.R2002* |
Nonsense |
35/82 |
- |
4 |
7-21730468-G-A |
c.6010G>A |
p.E2004K |
Missense |
35/82 |
- |
6 |
7-21730474-C-T |
c.6016C>T |
p.P2006S |
Missense |
35/82 |
- |
1 |
7-21730475-C-A |
c.6017C>A |
p.P2006Q |
Missense |
35/82 |
- |
1 |
7-21730475-C-T |
c.6017C>T |
p.P2006L |
Missense |
35/82 |
- |
1 |
7-21730484-T-C |
c.6026T>C |
p.L2009P |
Missense |
35/82 |
- |
2 |
7-21730485-C-A |
c.6027C>A |
p.L2009= |
Synonymous |
35/82 |
- |
2 |
7-21730485-C-G |
c.6027C>G |
p.L2009= |
Synonymous |
35/82 |
- |
2 |
7-21730485-C-T |
c.6027C>T |
p.L2009= |
Synonymous |
35/82 |
- |
2 |
7-21730489-G-A |
c.6031G>A |
p.A2011T |
Missense |
35/82 |
- |
1 |
7-21730491-T-A |
c.6033T>A |
p.A2011= |
Synonymous |
35/82 |
- |
1 |
7-21730491-T-C |
c.6033T>C |
p.A2011= |
Synonymous |
35/82 |
- |
1 |
7-21730491-T-G |
c.6033T>G |
p.A2011= |
Synonymous |
35/82 |
- |
1 |
7-21730498-AG-CA |
c.6040_6041delinsCA |
p.R2014Q |
Missense |
35/82 |
- |
1 |
7-21730500-G-T |
c.6041+1G>T |
- |
IntronicSNV |
- |
35/81 |
1 |
7-21730575-G-A |
c.6041+76G>A |
- |
IntronicSNV |
- |
35/81 |
1 |
7-21730647-T-G |
c.6041+148T>G |
- |
IntronicSNV |
- |
35/81 |
2 |
7-21733475-G-A |
c.6041+2976G>A |
- |
IntronicSNV |
- |
35/81 |
1 |
7-21733799-T-A |
c.6041+3300T>A |
- |
IntronicSNV |
- |
35/81 |
1 |
7-21737573-C-G |
c.6042-120C>G |
- |
IntronicSNV |
- |
35/81 |
1 |
7-21737613-C-G |
c.6042-80C>G |
- |
IntronicSNV |
- |
35/81 |
1 |
7-21737613-C-T |
c.6042-80C>T |
- |
IntronicSNV |
- |
35/81 |
1 |
7-21737646-T-C |
c.6042-47T>C |
- |
IntronicSNV |
- |
35/81 |
2 |
7-21737700-G-A |
c.6049G>A |
p.A2017T |
Missense |
36/82 |
- |
1 |
7-21737709-G-A |
c.6058G>A |
p.A2020T |
Missense |
36/82 |
- |
1 |
7-21737710-C-T |
c.6059C>T |
p.A2020V |
Missense |
36/82 |
- |
1 |
7-21737712-C-T |
c.6061C>T |
p.P2021S |
Missense |
36/82 |
- |
2 |
7-21737718-A-G |
c.6067A>G |
p.I2023V |
Missense |
36/82 |
- |
3 |
7-21737729-C-A |
c.6078C>A |
p.I2026= |
Synonymous |
36/82 |
- |
1 |
7-21737729-C-T |
c.6078C>T |
p.I2026= |
Synonymous |
36/82 |
- |
2 |
7-21737733-G-A |
c.6082G>A |
p.E2028K |
Missense |
36/82 |
- |
1 |
7-21737742-T-C |
c.6091T>C |
p.L2031= |
Synonymous |
36/82 |
- |
1 |
7-21737744-A-G |
c.6093A>G |
p.L2031= |
Synonymous |
36/82 |
- |
1 |
7-21737744-A-C |
c.6093A>C |
p.L2031F |
Missense |
36/82 |
- |
1 |
7-21737744-A-T |
c.6093A>T |
p.L2031F |
Missense |
36/82 |
- |
1 |
7-21737748-G-A |
c.6097G>A |
p.A2033T |
Missense |
36/82 |
- |
1 |
7-21737752-A-G |
c.6101A>G |
p.E2034G |
Missense |
36/82 |
- |
1 |
7-21737753-A-G |
c.6102A>G |
p.E2034= |
Synonymous |
36/82 |
- |
1 |
7-21737761-T-A |
c.6110T>A |
p.V2037E |
Missense |
36/82 |
- |
2 |
7-21737761-T-C |
c.6110T>C |
p.V2037A |
Missense |
36/82 |
- |
1 |
7-21737763-G-C |
c.6112G>C |
p.D2038H |
Missense |
36/82 |
- |
1 |
7-21737764-A-G |
c.6113A>G |
p.D2038G |
Missense |
36/82 |
- |
3 |
7-21737767-C-G |
c.6116C>G |
p.A2039G |
Missense |
36/82 |
- |
1 |
7-21737767-C-T |
c.6116C>T |
p.A2039V |
Missense |
36/82 |
- |
2 |
7-21737768-G-A |
c.6117G>A |
p.A2039= |
Synonymous |
36/82 |
- |
7 |
7-21737768-G-C |
c.6117G>C |
p.A2039= |
Synonymous |
36/82 |
- |
1 |
7-21737768-G-T |
c.6117G>T |
p.A2039= |
Synonymous |
36/82 |
- |
1 |
7-21737769-C-T |
c.6118C>T |
p.R2040C |
Missense |
36/82 |
- |
10 |
7-21737770-G-A |
c.6119G>A |
p.R2040H |
Missense |
36/82 |
- |
5 |
7-21737775-T-G |
c.6124T>G |
p.L2042V |
Missense |
36/82 |
- |
1 |
7-21737778-G-T |
c.6127G>T |
p.A2043S |
Missense |
36/82 |
- |
2 |
7-21737781-C-T |
c.6130C>T |
p.R2044* |
Nonsense |
36/82 |
- |
1 |
7-21737782-G-A |
c.6131G>A |
p.R2044Q |
Missense |
36/82 |
- |
3 |
7-21737785-A-G |
c.6134A>G |
p.K2045R |
Missense |
36/82 |
- |
2 |
7-21737785-A-T |
c.6134A>T |
p.K2045M |
Missense |
36/82 |
- |
1 |
7-21737786-G-C |
c.6135G>C |
p.K2045N |
Missense |
36/82 |
- |
2 |
7-21737789-C-T |
c.6138C>T |
p.F2046= |
Synonymous |
36/82 |
- |
3 |
7-21737794-C-G |
c.6143C>G |
p.T2048R |
Missense |
36/82 |
- |
3 |
7-21737794-C-T |
c.6143C>T |
p.T2048M |
Missense |
36/82 |
- |
2 |
7-21737795-G-A |
c.6144G>A |
p.T2048= |
Synonymous |
36/82 |
- |
2 |
7-21737795-G-C |
c.6144G>C |
p.T2048= |
Synonymous |
36/82 |
- |
1 |
7-21737795-G-T |
c.6144G>T |
p.T2048= |
Synonymous |
36/82 |
- |
1 |
7-21737796-T-A |
c.6145T>A |
p.L2049M |
Missense |
36/82 |
- |
1 |
7-21737801-C-T |
c.6150C>T |
p.Y2050= |
Synonymous |
36/82 |
- |
1 |
7-21737803-C-A |
c.6152C>A |
p.T2051K |
Missense |
36/82 |
- |
1 |
7-21737805-C-G |
c.6154C>G |
p.L2052V |
Missense |
36/82 |
- |
1 |
7-21737805-C-T |
c.6154C>T |
p.L2052F |
Missense |
36/82 |
- |
1 |
7-21737808-T-C |
c.6157T>C |
p.C2053R |
Missense |
36/82 |
- |
2 |
7-21737810-C-T |
c.6159C>T |
p.C2053= |
Synonymous |
36/82 |
- |
2 |
7-21737812-A-T |
c.6161A>T |
p.K2054M |
Missense |
36/82 |
- |
1 |
7-21737814-G-A |
c.6163G>A |
p.E2055K |
Missense |
36/82 |
- |
2 |
7-21737817-C-A |
c.6166C>A |
p.L2056I |
Missense |
36/82 |
- |
1 |
7-21737821-T-C |
c.6170T>C |
p.L2057P |
Missense |
36/82 |
- |
1 |
7-21737824-C-T |
c.6173C>T |
p.S2058F |
Missense |
36/82 |
- |
3 |
7-21737830-A-G |
c.6179A>G |
p.Q2060R |
Missense |
36/82 |
- |
1 |
7-21737973-G-C |
c.6180+142G>C |
- |
IntronicSNV |
- |
36/81 |
2 |
7-21742151-C-T |
c.6181-177C>T |
- |
IntronicSNV |
- |
36/81 |
1 |
7-21742328-G-A |
c.6181G>A |
p.D2061N |
Missense |
37/82 |
- |
1 |
7-21742331-C-A |
c.6184C>A |
p.H2062N |
Missense |
37/82 |
- |
1 |
7-21742332-A-G |
c.6185A>G |
p.H2062R |
Missense |
37/82 |
- |
1 |
7-21742336-C-T |
c.6189C>T |
p.Y2063= |
Synonymous |
37/82 |
- |
1 |
7-21742337-G-A |
c.6190G>A |
p.D2064N |
Missense |
37/82 |
- |
3 |
7-21742341-G-A |
c.6194G>A |
p.W2065* |
Nonsense |
37/82 |
- |
1 |
7-21742341-G-T |
c.6194G>T |
p.W2065L |
Missense |
37/82 |
- |
2 |
7-21742342-G-C |
c.6195G>C |
p.W2065C |
Missense |
37/82 |
- |
1 |
7-21742342-G-T |
c.6195G>T |
p.W2065C |
Missense |
37/82 |
- |
3 |
7-21742343-G-A |
c.6196G>A |
p.G2066R |
Missense |
37/82 |
- |
3 |
7-21742343-G-C |
c.6196G>C |
p.G2066R |
Missense |
37/82 |
- |
1 |
7-21742346-C-A |
c.6199C>A |
p.L2067I |
Missense |
37/82 |
- |
2 |
7-21742349-C-T |
c.6202C>T |
p.R2068C |
Missense |
37/82 |
- |
6 |
7-21742350-G-A |
c.6203G>A |
p.R2068H |
Missense |
37/82 |
- |
5 |
7-21742350-G-T |
c.6203G>T |
p.R2068L |
Missense |
37/82 |
- |
1 |
7-21742352-G-C |
c.6205G>C |
p.A2069P |
Missense |
37/82 |
- |
1 |
7-21742355-A-T |
c.6208A>T |
p.I2070F |
Missense |
37/82 |
- |
2 |
7-21742356-T-C |
c.6209T>C |
p.I2070T |
Missense |
37/82 |
- |
3 |
7-21742362-C-A |
c.6215C>A |
p.S2072Y |
Missense |
37/82 |
- |
1 |
7-21742362-C-T |
c.6215C>T |
p.S2072F |
Missense |
37/82 |
- |
3 |
7-21742367-T-C |
c.6220T>C |
p.L2074= |
Synonymous |
37/82 |
- |
1 |
7-21742369-G-A |
c.6222G>A |
p.L2074= |
Synonymous |
37/82 |
- |
1 |
7-21742373-G-C |
c.6226G>C |
p.V2076L |
Missense |
37/82 |
- |
1 |
7-21742373-G-T |
c.6226G>T |
p.V2076L |
Missense |
37/82 |
- |
1 |
7-21742379-G-A |
c.6232G>A |
p.G2078R |
Missense |
37/82 |
- |
2 |
7-21742379-G-C |
c.6232G>C |
p.G2078R |
Missense |
37/82 |
- |
1 |
7-21742381-A-C |
c.6234A>C |
p.G2078= |
Synonymous |
37/82 |
- |
2 |
7-21742381-A-G |
c.6234A>G |
p.G2078= |
Synonymous |
37/82 |
- |
2 |
7-21742381-A-T |
c.6234A>T |
p.G2078= |
Synonymous |
37/82 |
- |
2 |
7-21742383-C-T |
c.6236C>T |
p.S2079F |
Missense |
37/82 |
- |
6 |
7-21742385-C-T |
c.6238C>T |
p.L2080= |
Synonymous |
37/82 |
- |
1 |
7-21742391-C-T |
c.6244C>T |
p.R2082* |
Nonsense |
37/82 |
- |
13 |
7-21742392-G-A |
c.6245G>A |
p.R2082Q |
Missense |
37/82 |
- |
4 |
7-21742392-G-C |
c.6245G>C |
p.R2082P |
Missense |
37/82 |
- |
3 |
7-21742394-G-A |
c.6247G>A |
p.G2083R |
Missense |
37/82 |
- |
1 |
7-21742394-G-C |
c.6247G>C |
p.G2083R |
Missense |
37/82 |
- |
1 |
7-21742397-G-C |
c.6250G>C |
p.D2084H |
Missense |
37/82 |
- |
1 |
7-21742399-T-A |
c.6252T>A |
p.D2084E |
Missense |
37/82 |
- |
1 |
7-21742402-A-G |
c.6255A>G |
p.K2085= |
Synonymous |
37/82 |
- |
1 |
7-21742411-C-A |
c.6264C>A |
p.P2088= |
Synonymous |
37/82 |
- |
1 |
7-21742411-C-G |
c.6264C>G |
p.P2088= |
Synonymous |
37/82 |
- |
1 |
7-21742411-C-T |
c.6264C>T |
p.P2088= |
Synonymous |
37/82 |
- |
2 |
7-21742412-G-A |
c.6265G>A |
p.E2089K |
Missense |
37/82 |
- |
3 |
7-21742417-T-G |
c.6270T>G |
p.D2090E |
Missense |
37/82 |
- |
1 |
7-21742421-G-T |
c.6273+1G>T |
- |
IntronicSNV |
- |
37/81 |
1 |
7-21742422-T-C |
c.6273+2T>C |
- |
IntronicSNV |
- |
37/81 |
1 |
7-21742484-A-G |
c.6273+64A>G |
- |
IntronicSNV |
- |
37/81 |
1 |
7-21742974-A-G |
c.6273+554A>G |
- |
IntronicSNV |
- |
37/81 |
1 |
7-21744037-T-TG |
c.6274-14dup |
- |
IntronicInsertion |
- |
37/81 |
1 |
7-21744039-T-G |
c.6274-13T>G |
- |
IntronicSNV |
- |
37/81 |
7 |
7-21744052-G-T |
c.6274G>T |
p.V2092L |
Missense |
38/82 |
- |
1 |
7-21744052-GTA-ATG |
c.6274_6276delinsATG |
p.V2092M |
Missense |
38/82 |
- |
1 |
7-21744058-A-G |
c.6280A>G |
p.M2094V |
Missense |
38/82 |
- |
1 |
7-21744060-G-C |
c.6282G>C |
p.M2094I |
Missense |
38/82 |
- |
1 |
7-21744062-G-C |
c.6284G>C |
p.R2095T |
Missense |
38/82 |
- |
1 |
7-21744062-G-T |
c.6284G>T |
p.R2095I |
Missense |
38/82 |
- |
1 |
7-21744061-A-C |
c.6283A>C |
p.R2095= |
Synonymous |
38/82 |
- |
1 |
7-21744063-A-G |
c.6285A>G |
p.R2095= |
Synonymous |
38/82 |
- |
1 |
7-21744066-A-C |
c.6288A>C |
p.A2096= |
Synonymous |
38/82 |
- |
1 |
7-21744066-A-G |
c.6288A>G |
p.A2096= |
Synonymous |
38/82 |
- |
1 |
7-21744066-A-T |
c.6288A>T |
p.A2096= |
Synonymous |
38/82 |
- |
1 |
7-21744068-T-C |
c.6290T>C |
p.L2097S |
Missense |
38/82 |
- |
3 |
7-21744072-G-A |
c.6294G>A |
p.R2098= |
Synonymous |
38/82 |
- |
1 |
7-21744074-A-T |
c.6296A>T |
p.D2099V |
Missense |
38/82 |
- |
2 |
7-21744077-T-A |
c.6299T>A |
p.F2100Y |
Missense |
38/82 |
- |
1 |
7-21744077-T-G |
c.6299T>G |
p.F2100C |
Missense |
38/82 |
- |
1 |
7-21744078-C-G |
c.6300C>G |
p.F2100L |
Missense |
38/82 |
- |
1 |
7-21744080-A-G |
c.6302A>G |
p.N2101S |
Missense |
38/82 |
- |
2 |
7-21744080-A-T |
c.6302A>T |
p.N2101I |
Missense |
38/82 |
- |
1 |
7-21744081-T-A |
c.6303T>A |
p.N2101K |
Missense |
38/82 |
- |
1 |
7-21744081-T-C |
c.6303T>C |
p.N2101= |
Synonymous |
38/82 |
- |
2 |
7-21744087-C-A |
c.6309C>A |
p.P2103= |
Synonymous |
38/82 |
- |
1 |
7-21744087-C-G |
c.6309C>G |
p.P2103= |
Synonymous |
38/82 |
- |
1 |
7-21744087-C-T |
c.6309C>T |
p.P2103= |
Synonymous |
38/82 |
- |
1 |
7-21744090-A-C |
c.6312A>C |
p.K2104N |
Missense |
38/82 |
- |
1 |
7-21744092-T-G |
c.6314T>G |
p.I2105R |
Missense |
38/82 |
- |
1 |
7-21744094-G-A |
c.6316G>A |
p.V2106M |
Missense |
38/82 |
- |
1 |
7-21744094-GTG-ATC |
c.6316_6318delinsATC |
p.V2106I |
Missense |
38/82 |
- |
1 |
7-21744098-C-T |
c.6320C>T |
p.T2107I |
Missense |
38/82 |
- |
1 |
7-21744103-G-A |
c.6325G>A |
p.D2109N |
Missense |
38/82 |
- |
2 |
7-21744104-A-G |
c.6326A>G |
p.D2109G |
Missense |
38/82 |
- |
1 |
7-21744106-A-T |
c.6328A>T |
p.I2110F |
Missense |
38/82 |
- |
1 |
7-21744112-G-A |
c.6334G>A |
p.V2112M |
Missense |
38/82 |
- |
1 |
7-21744113-T-C |
c.6335T>C |
p.V2112A |
Missense |
38/82 |
- |
1 |
7-21744121-G-A |
c.6343G>A |
p.G2115S |
Missense |
38/82 |
- |
1 |
7-21744122-G-A |
c.6344G>A |
p.G2115D |
Missense |
38/82 |
- |
1 |
7-21744122-G-C |
c.6344G>C |
p.G2115A |
Missense |
38/82 |
- |
1 |
7-21744126-G-A |
c.6348G>A |
p.L2116= |
Synonymous |
38/82 |
- |
1 |
7-21744127-G-A |
c.6349G>A |
p.V2117I |
Missense |
38/82 |
- |
1 |
7-21744129-C-T |
c.6351C>T |
p.V2117= |
Synonymous |
38/82 |
- |
2 |
7-21744130-G-A |
c.6352G>A |
p.G2118S |
Missense |
38/82 |
- |
1 |
7-21744132-T-A |
c.6354T>A |
p.G2118= |
Synonymous |
38/82 |
- |
2 |
7-21744132-T-C |
c.6354T>C |
p.G2118= |
Synonymous |
38/82 |
- |
2 |
7-21744132-T-G |
c.6354T>G |
p.G2118= |
Synonymous |
38/82 |
- |
2 |
7-21744133-G-A |
c.6355G>A |
p.D2119N |
Missense |
38/82 |
- |
1 |
7-21744136-C-T |
c.6358C>T |
p.L2120= |
Synonymous |
38/82 |
- |
2 |
7-21744138-G-A |
c.6360G>A |
p.L2120= |
Synonymous |
38/82 |
- |
1 |
7-21744138-G-C |
c.6360G>C |
p.L2120= |
Synonymous |
38/82 |
- |
1 |
7-21744138-G-T |
c.6360G>T |
p.L2120= |
Synonymous |
38/82 |
- |
1 |
7-21744143-C-T |
c.6365C>T |
p.P2122L |
Missense |
38/82 |
- |
2 |
7-21744147-C-G |
c.6369C>G |
p.A2123= |
Synonymous |
38/82 |
- |
1 |
7-21744148-C-T |
c.6370C>T |
p.L2124= |
Synonymous |
38/82 |
- |
1 |
7-21744150-G-A |
c.6372G>A |
p.L2124= |
Synonymous |
38/82 |
- |
1 |
7-21744150-G-C |
c.6372G>C |
p.L2124= |
Synonymous |
38/82 |
- |
1 |
7-21744150-G-T |
c.6372G>T |
p.L2124= |
Synonymous |
38/82 |
- |
1 |
7-21744151-G-A |
c.6373G>A |
p.D2125N |
Missense |
38/82 |
- |
1 |
7-21744152-A-G |
c.6374A>G |
p.D2125G |
Missense |
38/82 |
- |
1 |
7-21744153-T-C |
c.6375T>C |
p.D2125= |
Synonymous |
38/82 |
- |
1 |
7-21744156-G-A |
c.6378G>A |
p.V2126= |
Synonymous |
38/82 |
- |
1 |
7-21744156-G-C |
c.6378G>C |
p.V2126= |
Synonymous |
38/82 |
- |
2 |
7-21744156-G-T |
c.6378G>T |
p.V2126= |
Synonymous |
38/82 |
- |
1 |
7-21744160-C-T |
c.6382C>T |
p.R2128W |
Missense |
38/82 |
- |
4 |
7-21744161-G-A |
c.6383G>A |
p.R2128Q |
Missense |
38/82 |
- |
2 |
7-21744164-G-A |
c.6386G>A |
p.R2129K |
Missense |
38/82 |
- |
1 |
7-21744164-G-T |
c.6386G>T |
p.R2129M |
Missense |
38/82 |
- |
1 |
7-21744163-A-C |
c.6385A>C |
p.R2129= |
Synonymous |
38/82 |
- |
1 |
7-21744165-G-A |
c.6387G>A |
p.R2129= |
Synonymous |
38/82 |
- |
1 |
7-21744166-A-G |
c.6388A>G |
p.R2130G |
Missense |
38/82 |
- |
1 |
7-21744171-G-A |
c.6393G>A |
p.K2131= |
Synonymous |
38/82 |
- |
1 |
7-21744172-C-G |
c.6394C>G |
p.L2132V |
Missense |
38/82 |
- |
2 |
7-21744172-C-T |
c.6394C>T |
p.L2132= |
Synonymous |
38/82 |
- |
1 |
7-21744179-T-G |
c.6401T>G |
p.F2134C |
Missense |
38/82 |
- |
1 |
7-21744181-G-C |
c.6403G>C |
p.E2135Q |
Missense |
38/82 |
- |
6 |
7-21744184-C-T |
c.6406C>T |
p.Q2136* |
Nonsense |
38/82 |
- |
1 |
7-21744188-T-C |
c.6410T>C |
p.M2137T |
Missense |
38/82 |
- |
1 |
7-21744190-G-A |
c.6412G>A |
p.V2138I |
Missense |
38/82 |
- |
1 |
7-21744192-C-T |
c.6414C>T |
p.V2138= |
Synonymous |
38/82 |
- |
1 |
7-21744193-A-G |
c.6415A>G |
p.R2139G |
Missense |
38/82 |
- |
1 |
7-21744194-G-A |
c.6416G>A |
p.R2139K |
Missense |
38/82 |
- |
3 |
7-21744200-C-G |
c.6422C>G |
p.S2141C |
Missense |
38/82 |
- |
1 |
7-21744202-A-C |
c.6424A>C |
p.T2142P |
Missense |
38/82 |
- |
1 |
7-21744205-C-G |
c.6427C>G |
p.L2143V |
Missense |
38/82 |
- |
1 |
7-21744205-C-T |
c.6427C>T |
p.L2143= |
Synonymous |
38/82 |
- |
1 |
7-21744207-G-A |
c.6429G>A |
p.L2143= |
Synonymous |
38/82 |
- |
1 |
7-21744207-G-T |
c.6429G>T |
p.L2143= |
Synonymous |
38/82 |
- |
1 |
7-21744208-G-C |
c.6430G>C |
p.E2144Q |
Missense |
38/82 |
- |
1 |
7-21744210-G-A |
c.6432G>A |
p.E2144= |
Synonymous |
38/82 |
- |
2 |
7-21744214-C-G |
c.6436C>G |
p.R2146G |
Missense |
38/82 |
- |
1 |
7-21744215-G-A |
c.6437G>A |
p.R2146H |
Missense |
38/82 |
- |
5 |
7-21744216-C-A |
c.6438C>A |
p.R2146= |
Synonymous |
38/82 |
- |
1 |
7-21744216-C-G |
c.6438C>G |
p.R2146= |
Synonymous |
38/82 |
- |
1 |
7-21744216-C-T |
c.6438C>T |
p.R2146= |
Synonymous |
38/82 |
- |
1 |
7-21744219-G-C |
c.6441G>C |
p.L2147= |
Synonymous |
38/82 |
- |
1 |
7-21744221-A-G |
c.6443A>G |
p.Q2148R |
Missense |
38/82 |
- |
1 |
7-21744223-C-T |
c.6445C>T |
p.P2149S |
Missense |
38/82 |
- |
1 |
7-21744224-C-T |
c.6446C>T |
p.P2149L |
Missense |
38/82 |
- |
1 |
7-21744226-G-A |
c.6448G>A |
p.E2150K |
Missense |
38/82 |
- |
2 |
7-21744226-G-C |
c.6448G>C |
p.E2150Q |
Missense |
38/82 |
- |
3 |
7-21744226-G-T |
c.6448G>T |
p.E2150* |
Nonsense |
38/82 |
- |
1 |
7-21744235-T-C |
c.6457T>C |
p.F2153L |
Missense |
38/82 |
- |
1 |
7-21744237-C-T |
c.6459C>T |
p.F2153= |
Synonymous |
38/82 |
- |
2 |
7-21744318-TA-T |
c.6468+75del |
- |
IntronicDeletion |
- |
38/81 |
1 |
7-21745061-A-G |
c.6469-17A>G |
- |
IntronicSNV |
- |
38/81 |
5 |
7-21745087-C-T |
c.6478C>T |
p.L2160F |
Missense |
39/82 |
- |
2 |
7-21745088-T-G |
c.6479T>G |
p.L2160R |
Missense |
39/82 |
- |
2 |
7-21745089-T-A |
c.6480T>A |
p.L2160= |
Synonymous |
39/82 |
- |
1 |
7-21745089-T-C |
c.6480T>C |
p.L2160= |
Synonymous |
39/82 |
- |
1 |
7-21745089-T-G |
c.6480T>G |
p.L2160= |
Synonymous |
39/82 |
- |
1 |
7-21745090-G-C |
c.6481G>C |
p.E2161Q |
Missense |
39/82 |
- |
2 |
7-21745091-A-C |
c.6482A>C |
p.E2161A |
Missense |
39/82 |
- |
1 |
7-21745096-C-G |
c.6487C>G |
p.L2163V |
Missense |
39/82 |
- |
1 |
7-21745101-G-A |
c.6492G>A |
p.L2164= |
Synonymous |
39/82 |
- |
1 |
7-21745101-G-C |
c.6492G>C |
p.L2164F |
Missense |
39/82 |
- |
1 |
7-21745103-C-G |
c.6494C>G |
p.A2165G |
Missense |
39/82 |
- |
1 |
7-21745103-C-T |
c.6494C>T |
p.A2165V |
Missense |
39/82 |
- |
1 |
7-21745105-G-C |
c.6496G>C |
p.V2166L |
Missense |
39/82 |
- |
1 |
7-21745108-C-T |
c.6499C>T |
p.R2167W |
Missense |
39/82 |
- |
1 |
7-21745109-G-A |
c.6500G>A |
p.R2167Q |
Missense |
39/82 |
- |
1 |
7-21745109-G-T |
c.6500G>T |
p.R2167L |
Missense |
39/82 |
- |
2 |
7-21745110-G-A |
c.6501G>A |
p.R2167= |
Synonymous |
39/82 |
- |
1 |
7-21745115-C-A |
c.6506C>A |
p.S2169* |
Nonsense |
39/82 |
- |
1 |
7-21745115-C-T |
c.6506C>T |
p.S2169L |
Missense |
39/82 |
- |
1 |
7-21745117-G-A |
c.6508G>A |
p.V2170I |
Missense |
39/82 |
- |
1 |
7-21745123-G-C |
c.6514G>C |
p.V2172L |
Missense |
39/82 |
- |
1 |
7-21745124-T-A |
c.6515T>A |
p.V2172E |
Missense |
39/82 |
- |
1 |
7-21745129-G-A |
c.6520G>A |
p.G2174R |
Missense |
39/82 |
- |
3 |
7-21745130-G-T |
c.6521G>T |
p.G2174V |
Missense |
39/82 |
- |
3 |
7-21745133-A-G |
c.6524A>G |
p.N2175S |
Missense |
39/82 |
- |
1 |
7-21745134-T-A |
c.6525T>A |
p.N2175K |
Missense |
39/82 |
- |
1 |
7-21745135-G-T |
c.6526G>T |
p.A2176S |
Missense |
39/82 |
- |
1 |
7-21745136-C-A |
c.6527C>A |
p.A2176E |
Missense |
39/82 |
- |
1 |
7-21745136-C-T |
c.6527C>T |
p.A2176V |
Missense |
39/82 |
- |
1 |
7-21745139-G-A |
c.6530G>A |
p.G2177D |
Missense |
39/82 |
- |
1 |
7-21745143-A-C |
c.6534A>C |
p.T2178= |
Synonymous |
39/82 |
- |
1 |
7-21745143-A-G |
c.6534A>G |
p.T2178= |
Synonymous |
39/82 |
- |
1 |
7-21745143-A-T |
c.6534A>T |
p.T2178= |
Synonymous |
39/82 |
- |
1 |
7-21745144-G-A |
c.6535G>A |
p.G2179R |
Missense |
39/82 |
- |
2 |
7-21745144-G-C |
c.6535G>C |
p.G2179R |
Missense |
39/82 |
- |
4 |
7-21745149-G-A |
c.6540G>A |
p.K2180= |
Synonymous |
39/82 |
- |
1 |
7-21745149-G-C |
c.6540G>C |
p.K2180N |
Missense |
39/82 |
- |
1 |
7-21745149-G-T |
c.6540G>T |
p.K2180N |
Missense |
39/82 |
- |
2 |
7-21745154-A-G |
c.6545A>G |
p.K2182R |
Missense |
39/82 |
- |
1 |
7-21745347-G-C |
c.6546+192G>C |
- |
IntronicSNV |
- |
39/81 |
1 |
7-21747316-G-GA |
c.6547dup |
p.I2183Nfs*11 |
SpliceAcceptorInsertion |
40/82 |
- |
1 |
7-21747323-A-C |
c.6553A>C |
p.R2185= |
Synonymous |
40/82 |
- |
1 |
7-21747325-A-G |
c.6555A>G |
p.R2185= |
Synonymous |
40/82 |
- |
1 |
7-21747329-C-T |
c.6559C>T |
p.L2187= |
Synonymous |
40/82 |
- |
1 |
7-21747331-G-A |
c.6561G>A |
p.L2187= |
Synonymous |
40/82 |
- |
2 |
7-21747331-G-C |
c.6561G>C |
p.L2187= |
Synonymous |
40/82 |
- |
1 |
7-21747331-G-T |
c.6561G>T |
p.L2187= |
Synonymous |
40/82 |
- |
1 |
7-21747332-A-G |
c.6562A>G |
p.N2188D |
Missense |
40/82 |
- |
1 |
7-21747335-C-T |
c.6565C>T |
p.R2189* |
Nonsense |
40/82 |
- |
5 |
7-21747336-G-A |
c.6566G>A |
p.R2189Q |
Missense |
40/82 |
- |
6 |
7-21747338-A-G |
c.6568A>G |
p.T2190A |
Missense |
40/82 |
- |
1 |
7-21747339-C-A |
c.6569C>A |
p.T2190K |
Missense |
40/82 |
- |
1 |
7-21747340-A-C |
c.6570A>C |
p.T2190= |
Synonymous |
40/82 |
- |
1 |
7-21747340-A-G |
c.6570A>G |
p.T2190= |
Synonymous |
40/82 |
- |
1 |
7-21747340-A-T |
c.6570A>T |
p.T2190= |
Synonymous |
40/82 |
- |
1 |
7-21747345-T-C |
c.6575T>C |
p.V2192A |
Missense |
40/82 |
- |
1 |
7-21747352-G-A |
c.6582G>A |
p.M2194I |
Missense |
40/82 |
- |
3 |
7-21747357-A-T |
c.6587A>T |
p.Q2196L |
Missense |
40/82 |
- |
1 |
7-21747362-C-T |
c.6592C>T |
p.P2198S |
Missense |
40/82 |
- |
4 |
7-21747363-C-T |
c.6593C>T |
p.P2198L |
Missense |
40/82 |
- |
3 |
7-21747364-G-A |
c.6594G>A |
p.P2198= |
Synonymous |
40/82 |
- |
3 |
7-21747364-G-T |
c.6594G>T |
p.P2198= |
Synonymous |
40/82 |
- |
1 |
7-21747365-G-A |
c.6595G>A |
p.V2199I |
Missense |
40/82 |
- |
1 |
7-21747367-T-A |
c.6597T>A |
p.V2199= |
Synonymous |
40/82 |
- |
1 |
7-21747367-T-C |
c.6597T>C |
p.V2199= |
Synonymous |
40/82 |
- |
1 |
7-21747367-T-G |
c.6597T>G |
p.V2199= |
Synonymous |
40/82 |
- |
1 |
7-21747374-G-A |
c.6604G>A |
p.D2202N |
Missense |
40/82 |
- |
2 |
7-21747374-G-T |
c.6604G>T |
p.D2202Y |
Missense |
40/82 |
- |
1 |
7-21747378-T-A |
c.6608T>A |
p.L2203* |
Nonsense |
40/82 |
- |
1 |
7-21747378-T-G |
c.6608T>G |
p.L2203* |
Nonsense |
40/82 |
- |
1 |
7-21747381-A-G |
c.6611A>G |
p.N2204S |
Missense |
40/82 |
- |
1 |
7-21747381-A-T |
c.6611A>T |
p.N2204I |
Missense |
40/82 |
- |
1 |
7-21747382-C-A |
c.6612C>A |
p.N2204K |
Missense |
40/82 |
- |
3 |
7-21747382-C-G |
c.6612C>G |
p.N2204K |
Missense |
40/82 |
- |
1 |
7-21747383-C-G |
c.6613C>G |
p.P2205A |
Missense |
40/82 |
- |
1 |
7-21747383-C-T |
c.6613C>T |
p.P2205S |
Missense |
40/82 |
- |
1 |
7-21747385-T-A |
c.6615T>A |
p.P2205= |
Synonymous |
40/82 |
- |
1 |
7-21747385-T-C |
c.6615T>C |
p.P2205= |
Synonymous |
40/82 |
- |
1 |
7-21747385-T-G |
c.6615T>G |
p.P2205= |
Synonymous |
40/82 |
- |
1 |
7-21747388-A-C |
c.6618A>C |
p.K2206N |
Missense |
40/82 |
- |
3 |
7-21747398-A-G |
c.6628A>G |
p.T2210A |
Missense |
40/82 |
- |
1 |
7-21747399-C-T |
c.6629C>T |
p.T2210I |
Missense |
40/82 |
- |
1 |
7-21747407-C-G |
c.6637C>G |
p.L2213V |
Missense |
40/82 |
- |
2 |
7-21747409-CTT-C |
c.6641_6642del |
p.F2214Wfs*35 |
Frameshift |
40/82 |
- |
1 |
7-21747409-CT-C |
c.6642del |
p.F2214Lfs*22 |
Frameshift |
40/82 |
- |
1 |
7-21747413-G-A |
c.6643G>A |
p.G2215S |
Missense |
40/82 |
- |
2 |
7-21747414-G-T |
c.6644G>T |
p.G2215V |
Missense |
40/82 |
- |
1 |
7-21747419-A-G |
c.6649A>G |
p.I2217V |
Missense |
40/82 |
- |
1 |
7-21747422-C-T |
c.6652C>T |
p.H2218Y |
Missense |
40/82 |
- |
1 |
7-21747423-A-G |
c.6653A>G |
p.H2218R |
Missense |
40/82 |
- |
1 |
7-21747425-C-T |
c.6655C>T |
p.H2219Y |
Missense |
40/82 |
- |
3 |
7-21747426-A-T |
c.6656A>T |
p.H2219L |
Missense |
40/82 |
- |
1 |
7-21747432-C-T |
c.6662C>T |
p.T2221I |
Missense |
40/82 |
- |
1 |
7-21747434-C-G |
c.6664C>G |
p.R2222G |
Missense |
40/82 |
- |
1 |
7-21747434-C-T |
c.6664C>T |
p.R2222* |
Nonsense |
40/82 |
- |
2 |
7-21747435-G-A |
c.6665G>A |
p.R2222Q |
Missense |
40/82 |
- |
1 |
7-21747435-G-C |
c.6665G>C |
p.R2222P |
Missense |
40/82 |
- |
3 |
7-21747436-A-T |
c.6666A>T |
p.R2222= |
Synonymous |
40/82 |
- |
1 |
7-21747438-A-G |
c.6668A>G |
p.E2223G |
Missense |
40/82 |
- |
1 |
7-21747441-G-A |
c.6671G>A |
p.W2224* |
Nonsense |
40/82 |
- |
1 |
7-21747441-G-T |
c.6671G>T |
p.W2224L |
Missense |
40/82 |
- |
1 |
7-21747442-G-A |
c.6672G>A |
p.W2224* |
Nonsense |
40/82 |
- |
1 |
7-21747446-G-T |
c.6676G>T |
p.D2226Y |
Missense |
40/82 |
- |
1 |
7-21747448-T-C |
c.6678T>C |
p.D2226= |
Synonymous |
40/82 |
- |
2 |
7-21747450-G-C |
c.6680G>C |
p.G2227A |
Missense |
40/82 |
- |
1 |
7-21747452-A-C |
c.6682A>C |
p.K2228Q |
Missense |
40/82 |
- |
1 |
7-21747466-C-G |
c.6683+13C>G |
- |
IntronicSNV |
- |
40/81 |
1 |
7-21747579-G-A |
c.6683+126G>A |
- |
IntronicSNV |
- |
40/81 |
1 |
7-21747630-A-G |
c.6683+177A>G |
- |
IntronicSNV |
- |
40/81 |
1 |
7-21747666-C-G |
c.6683+213C>G |
- |
IntronicSNV |
- |
40/81 |
1 |
7-21747666-C-T |
c.6683+213C>T |
- |
IntronicSNV |
- |
40/81 |
1 |
7-21747684-C-G |
c.6683+231C>G |
- |
IntronicSNV |
- |
40/81 |
1 |
7-21747684-C-T |
c.6683+231C>T |
- |
IntronicSNV |
- |
40/81 |
1 |
7-21749341-G-C |
c.6684-830G>C |
- |
IntronicSNV |
- |
40/81 |
1 |
7-21749502-T-C |
c.6684-669T>C |
- |
IntronicSNV |
- |
40/81 |
2 |
7-21750060-G-A |
c.6684-111G>A |
- |
IntronicSNV |
- |
40/81 |
1 |
7-21750060-G-C |
c.6684-111G>C |
- |
IntronicSNV |
- |
40/81 |
1 |
7-21750060-G-T |
c.6684-111G>T |
- |
IntronicSNV |
- |
40/81 |
1 |
7-21750186-T-A |
c.6699T>A |
p.Y2233* |
Nonsense |
41/82 |
- |
1 |
7-21750186-T-G |
c.6699T>G |
p.Y2233* |
Nonsense |
41/82 |
- |
1 |
7-21750193-G-T |
c.6706G>T |
p.G2236C |
Missense |
41/82 |
- |
1 |
7-21750194-G-A |
c.6707G>A |
p.G2236D |
Missense |
41/82 |
- |
1 |
7-21750196-C-A |
c.6709C>A |
p.L2237I |
Missense |
41/82 |
- |
1 |
7-21750196-C-G |
c.6709C>G |
p.L2237V |
Missense |
41/82 |
- |
1 |
7-21750197-T-A |
c.6710T>A |
p.L2237H |
Missense |
41/82 |
- |
3 |
7-21750197-T-C |
c.6710T>C |
p.L2237P |
Missense |
41/82 |
- |
1 |
7-21750198-C-A |
c.6711C>A |
p.L2237= |
Synonymous |
41/82 |
- |
1 |
7-21750198-C-G |
c.6711C>G |
p.L2237= |
Synonymous |
41/82 |
- |
1 |
7-21750198-C-T |
c.6711C>T |
p.L2237= |
Synonymous |
41/82 |
- |
2 |
7-21750199-T-C |
c.6712T>C |
p.F2238L |
Missense |
41/82 |
- |
1 |
7-21750201-C-A |
c.6714C>A |
p.F2238L |
Missense |
41/82 |
- |
1 |
7-21750201-C-G |
c.6714C>G |
p.F2238L |
Missense |
41/82 |
- |
2 |
7-21750203-C-T |
c.6716C>T |
p.S2239L |
Missense |
41/82 |
- |
2 |
7-21750204-A-C |
c.6717A>C |
p.S2239= |
Synonymous |
41/82 |
- |
2 |
7-21750204-A-G |
c.6717A>G |
p.S2239= |
Synonymous |
41/82 |
- |
2 |
7-21750204-A-T |
c.6717A>T |
p.S2239= |
Synonymous |
41/82 |
- |
2 |
7-21750206-C-A |
c.6719C>A |
p.S2240Y |
Missense |
41/82 |
- |
1 |
7-21750211-C-G |
c.6724C>G |
p.L2242V |
Missense |
41/82 |
- |
1 |
7-21750213-A-C |
c.6726A>C |
p.L2242= |
Synonymous |
41/82 |
- |
1 |
7-21750213-A-G |
c.6726A>G |
p.L2242= |
Synonymous |
41/82 |
- |
1 |
7-21750214-C-G |
c.6727C>G |
p.R2243G |
Missense |
41/82 |
- |
2 |
7-21750214-C-T |
c.6727C>T |
p.R2243* |
Nonsense |
41/82 |
- |
12 |
7-21750215-G-A |
c.6728G>A |
p.R2243Q |
Missense |
41/82 |
- |
5 |
7-21750215-G-C |
c.6728G>C |
p.R2243P |
Missense |
41/82 |
- |
1 |
7-21750215-G-T |
c.6728G>T |
p.R2243L |
Missense |
41/82 |
- |
1 |
7-21750216-A-T |
c.6729A>T |
p.R2243= |
Synonymous |
41/82 |
- |
1 |
7-21750217-G-C |
c.6730G>C |
p.E2244Q |
Missense |
41/82 |
- |
1 |
7-21750223-G-A |
c.6736G>A |
p.A2246T |
Missense |
41/82 |
- |
1 |
7-21750224-C-A |
c.6737C>A |
p.A2246E |
Missense |
41/82 |
- |
1 |
7-21750226-A-C |
c.6739A>C |
p.N2247H |
Missense |
41/82 |
- |
3 |
7-21750229-C-A |
c.6742C>A |
p.L2248I |
Missense |
41/82 |
- |
1 |
7-21750229-C-G |
c.6742C>G |
p.L2248V |
Missense |
41/82 |
- |
1 |
7-21750234-G-C |
c.6747G>C |
p.K2249N |
Missense |
41/82 |
- |
1 |
7-21750235-C-T |
c.6748C>T |
p.H2250Y |
Missense |
41/82 |
- |
3 |
7-21750238-G-A |
c.6751G>A |
p.D2251N |
Missense |
41/82 |
- |
1 |
7-21750242-G-A |
c.6755G>A |
p.G2252E |
Missense |
41/82 |
- |
1 |
7-21750242-GA-AC |
c.6755_6756delinsAC |
p.G2252D |
Missense |
41/82 |
- |
1 |
7-21750244-C-T |
c.6757C>T |
p.P2253S |
Missense |
41/82 |
- |
1 |
7-21750247-A-C |
c.6760A>C |
p.K2254Q |
Missense |
41/82 |
- |
1 |
7-21750245-C-CA |
c.6762dup |
p.W2255Mfs*9 |
Frameshift |
41/82 |
- |
1 |
7-21750250-T-A |
c.6763T>A |
p.W2255R |
Missense |
41/82 |
- |
1 |
7-21750250-T-C |
c.6763T>C |
p.W2255R |
Missense |
41/82 |
- |
1 |
7-21750253-A-G |
c.6766A>G |
p.I2256V |
Missense |
41/82 |
- |
1 |
7-21750262-G-A |
c.6775G>A |
p.D2259N |
Missense |
41/82 |
- |
1 |
7-21750263-A-T |
c.6776A>T |
p.D2259V |
Missense |
41/82 |
- |
1 |
7-21750265-G-A |
c.6778G>A |
p.G2260S |
Missense |
41/82 |
- |
2 |
7-21750267-C-A |
c.6780C>A |
p.G2260= |
Synonymous |
41/82 |
- |
2 |
7-21750267-C-G |
c.6780C>G |
p.G2260= |
Synonymous |
41/82 |
- |
2 |
7-21750267-C-T |
c.6780C>T |
p.G2260= |
Synonymous |
41/82 |
- |
2 |
7-21750272-T-C |
c.6785T>C |
p.I2262T |
Missense |
41/82 |
- |
4 |
7-21750280-A-C |
c.6793A>C |
p.M2265L |
Missense |
41/82 |
- |
1 |
7-21750280-A-T |
c.6793A>T |
p.M2265L |
Missense |
41/82 |
- |
1 |
7-21750285-G-C |
c.6798G>C |
p.W2266C |
Missense |
41/82 |
- |
2 |
7-21750285-G-T |
c.6798G>T |
p.W2266C |
Missense |
41/82 |
- |
4 |
7-21750289-G-A |
c.6802G>A |
p.E2268K |
Missense |
41/82 |
- |
1 |
7-21750289-G-T |
c.6802G>T |
p.E2268* |
Nonsense |
41/82 |
- |
1 |
7-21750301-A-G |
c.6814A>G |
p.T2272A |
Missense |
41/82 |
- |
1 |
7-21750306-A-C |
c.6819A>C |
p.V2273= |
Synonymous |
41/82 |
- |
1 |
7-21750306-A-G |
c.6819A>G |
p.V2273= |
Synonymous |
41/82 |
- |
1 |
7-21750306-A-T |
c.6819A>T |
p.V2273= |
Synonymous |
41/82 |
- |
1 |
7-21750310-G-A |
c.6823G>A |
p.D2275N |
Missense |
41/82 |
- |
1 |
7-21750313-G-C |
c.6826G>C |
p.D2276H |
Missense |
41/82 |
- |
1 |
7-21751330-G-A |
c.6835G>A |
p.V2279M |
Missense |
42/82 |
- |
1 |
7-21751331-T-A |
c.6836T>A |
p.V2279E |
Missense |
42/82 |
- |
2 |
7-21751337-C-G |
c.6842C>G |
p.T2281S |
Missense |
42/82 |
- |
1 |
7-21751337-C-T |
c.6842C>T |
p.T2281I |
Missense |
42/82 |
- |
1 |
7-21751342-CG-C |
c.6847del |
p.A2283Pfs*12 |
Frameshift |
42/82 |
- |
1 |
7-21751342-G-A |
c.6847G>A |
p.A2283T |
Missense |
42/82 |
- |
1 |
7-21751351-G-A |
c.6856G>A |
p.E2286K |
Missense |
42/82 |
- |
1 |
7-21751352-A-G |
c.6857A>G |
p.E2286G |
Missense |
42/82 |
- |
1 |
7-21751354-C-T |
c.6859C>T |
p.R2287C |
Missense |
42/82 |
- |
4 |
7-21751355-G-A |
c.6860G>A |
p.R2287H |
Missense |
42/82 |
- |
1 |
7-21751358-T-C |
c.6863T>C |
p.I2288T |
Missense |
42/82 |
- |
1 |
7-21751365-C-T |
c.6870C>T |
p.L2290= |
Synonymous |
42/82 |
- |
2 |
7-21751366-A-C |
c.6871A>C |
p.T2291P |
Missense |
42/82 |
- |
1 |
7-21751366-A-G |
c.6871A>G |
p.T2291A |
Missense |
42/82 |
- |
2 |
7-21751369-C-T |
c.6874C>T |
p.P2292S |
Missense |
42/82 |
- |
2 |
7-21751370-C-T |
c.6875C>T |
p.P2292L |
Missense |
42/82 |
- |
1 |
7-21751371-CT-C |
c.6878del |
p.F2293Sfs*2 |
Frameshift |
42/82 |
- |
1 |
7-21751375-A-G |
c.6880A>G |
p.M2294V |
Missense |
42/82 |
- |
2 |
7-21751389-T-A |
c.6894T>A |
p.F2298L |
Missense |
42/82 |
- |
1 |
7-21751390-G-C |
c.6895G>C |
p.E2299Q |
Missense |
42/82 |
- |
3 |
7-21751393-A-G |
c.6898A>G |
p.I2300V |
Missense |
42/82 |
- |
1 |
7-21751397-A-G |
c.6902A>G |
p.H2301R |
Missense |
42/82 |
- |
1 |
7-21751400-A-C |
c.6905A>C |
p.H2302P |
Missense |
42/82 |
- |
2 |
7-21751402-T-C |
c.6907T>C |
p.L2303= |
Synonymous |
42/82 |
- |
2 |
7-21751404-A-G |
c.6909A>G |
p.L2303= |
Synonymous |
42/82 |
- |
2 |
7-21751405-A-G |
c.6910A>G |
p.R2304G |
Missense |
42/82 |
- |
1 |
7-21751411-G-A |
c.6916G>A |
p.A2306T |
Missense |
42/82 |
- |
1 |
7-21751415-CC-AG |
c.6920_6921delinsAG |
p.T2307K |
Missense |
42/82 |
- |
1 |
7-21751418-C-T |
c.6923C>T |
p.P2308L |
Missense |
42/82 |
- |
1 |
7-21751419-G-A |
c.6924G>A |
p.P2308= |
Synonymous |
42/82 |
- |
1 |
7-21751419-G-C |
c.6924G>C |
p.P2308= |
Synonymous |
42/82 |
- |
1 |
7-21751419-G-T |
c.6924G>T |
p.P2308= |
Synonymous |
42/82 |
- |
2 |
7-21751424-C-A |
c.6929C>A |
p.T2310N |
Missense |
42/82 |
- |
1 |
7-21751424-CT-TG |
c.6929_6930delinsTG |
p.T2310M |
Missense |
42/82 |
- |
1 |
7-21751429-T-C |
c.6934T>C |
p.S2312P |
Missense |
42/82 |
- |
1 |
7-21751429-TC-CG |
c.6934_6935delinsCG |
p.S2312R |
Missense |
42/82 |
- |
1 |
7-21751430-C-T |
c.6935C>T |
p.S2312F |
Missense |
42/82 |
- |
4 |
7-21751431-C-T |
c.6936C>T |
p.S2312= |
Synonymous |
42/82 |
- |
1 |
7-21751432-A-G |
c.6937A>G |
p.R2313G |
Missense |
42/82 |
- |
1 |
7-21751436-C-G |
c.6941C>G |
p.A2314G |
Missense |
42/82 |
- |
1 |
7-21751436-C-T |
c.6941C>T |
p.A2314V |
Missense |
42/82 |
- |
1 |
7-21751444-C-T |
c.6949C>T |
p.L2317= |
Synonymous |
42/82 |
- |
1 |
7-21751446-G-A |
c.6951G>A |
p.L2317= |
Synonymous |
42/82 |
- |
1 |
7-21751456-C-T |
c.6961C>T |
p.P2321S |
Missense |
42/82 |
- |
1 |
7-21751457-C-T |
c.6962C>T |
p.P2321L |
Missense |
42/82 |
- |
1 |
7-21751458-CA-C |
c.6963del |
p.Q2322Kfs*13 |
Frameshift |
42/82 |
- |
1 |
7-21751460-A-C |
c.6965A>C |
p.Q2322P |
Missense |
42/82 |
- |
1 |
7-21751462-G-A |
c.6967G>A |
p.D2323N |
Missense |
42/82 |
- |
1 |
7-21751462-G-T |
c.6967G>T |
p.D2323Y |
Missense |
42/82 |
- |
1 |
7-21751467-G-A |
c.6972G>A |
p.L2324= |
Synonymous |
42/82 |
- |
1 |
7-21751468-G-A |
c.6973G>A |
p.G2325S |
Missense |
42/82 |
- |
2 |
7-21751477-C-A |
c.6982C>A |
p.P2328T |
Missense |
42/82 |
- |
1 |
7-21751478-C-A |
c.6983C>A |
p.P2328Q |
Missense |
42/82 |
- |
2 |
7-21751478-C-T |
c.6983C>T |
p.P2328L |
Missense |
42/82 |
- |
3 |
7-21751479-G-A |
c.6983+1G>A |
- |
IntronicSNV |
- |
42/81 |
3 |
7-21754157-G-A |
c.6983+2679G>A |
- |
IntronicSNV |
- |
42/81 |
1 |
7-21757287-T-C |
c.6984-106T>C |
- |
IntronicSNV |
- |
42/81 |
5 |
7-21757399-G-T |
c.6990G>T |
p.V2330= |
Synonymous |
43/82 |
- |
1 |
7-21757409-A-AT |
c.7001dup |
p.D2335Rfs*17 |
Frameshift |
43/82 |
- |
1 |
7-21757412-G-C |
c.7003G>C |
p.D2335H |
Missense |
43/82 |
- |
1 |
7-21757418-A-C |
c.7009A>C |
p.R2337= |
Synonymous |
43/82 |
- |
1 |
7-21757420-G-A |
c.7011G>A |
p.R2337= |
Synonymous |
43/82 |
- |
1 |
7-21757421-C-T |
c.7012C>T |
p.R2338W |
Missense |
43/82 |
- |
1 |
7-21757422-G-A |
c.7013G>A |
p.R2338Q |
Missense |
43/82 |
- |
1 |
7-21757424-C-T |
c.7015C>T |
p.H2339Y |
Missense |
43/82 |
- |
1 |
7-21757433-G-A |
c.7024G>A |
p.E2342K |
Missense |
43/82 |
- |
2 |
7-21757433-G-T |
c.7024G>T |
p.E2342* |
Nonsense |
43/82 |
- |
1 |
7-21757434-A-G |
c.7025A>G |
p.E2342G |
Missense |
43/82 |
- |
1 |
7-21757438-G-C |
c.7029G>C |
p.K2343N |
Missense |
43/82 |
- |
1 |
7-21757439-G-A |
c.7030G>A |
p.A2344T |
Missense |
43/82 |
- |
2 |
7-21757441-C-T |
c.7032C>T |
p.A2344= |
Synonymous |
43/82 |
- |
1 |
7-21757447-G-C |
c.7038G>C |
p.L2346F |
Missense |
43/82 |
- |
2 |
7-21757447-G-T |
c.7038G>T |
p.L2346F |
Missense |
43/82 |
- |
1 |
7-21757450-T-G |
c.7041T>G |
p.T2347= |
Synonymous |
43/82 |
- |
1 |
7-21757454-C-A |
c.7045C>A |
p.L2349I |
Missense |
43/82 |
- |
1 |
7-21757454-C-T |
c.7045C>T |
p.L2349F |
Missense |
43/82 |
- |
2 |
7-21757455-T-A |
c.7046T>A |
p.L2349H |
Missense |
43/82 |
- |
3 |
7-21757457-T-G |
c.7048T>G |
p.F2350V |
Missense |
43/82 |
- |
1 |
7-21757460-G-A |
c.7051G>A |
p.D2351N |
Missense |
43/82 |
- |
2 |
7-21757464-A-C |
c.7055A>C |
p.K2352T |
Missense |
43/82 |
- |
2 |
7-21757464-A-T |
c.7055A>T |
p.K2352I |
Missense |
43/82 |
- |
1 |
7-21757468-T-C |
c.7059T>C |
p.Y2353= |
Synonymous |
43/82 |
- |
2 |
7-21757470-T-A |
c.7061T>A |
p.V2354D |
Missense |
43/82 |
- |
1 |
7-21757471-C-T |
c.7062C>T |
p.V2354= |
Synonymous |
43/82 |
- |
2 |
7-21757472-C-T |
c.7063C>T |
p.P2355S |
Missense |
43/82 |
- |
1 |
7-21757473-C-A |
c.7064C>A |
p.P2355H |
Missense |
43/82 |
- |
1 |
7-21757480-C-A |
c.7071C>A |
p.C2357* |
Nonsense |
43/82 |
- |
1 |
7-21757481-T-C |
c.7072T>C |
p.L2358= |
Synonymous |
43/82 |
- |
1 |
7-21757483-G-A |
c.7074G>A |
p.L2358= |
Synonymous |
43/82 |
- |
1 |
7-21757485-A-T |
c.7076A>T |
p.D2359V |
Missense |
43/82 |
- |
1 |
7-21757491-T-A |
c.7082T>A |
p.L2361Q |
Missense |
43/82 |
- |
1 |
7-21757494-G-A |
c.7085G>A |
p.R2362K |
Missense |
43/82 |
- |
1 |
7-21757494-G-T |
c.7085G>T |
p.R2362I |
Missense |
43/82 |
- |
3 |
7-21757498-A-C |
c.7089A>C |
p.T2363= |
Synonymous |
43/82 |
- |
2 |
7-21757498-A-G |
c.7089A>G |
p.T2363= |
Synonymous |
43/82 |
- |
1 |
7-21757498-A-T |
c.7089A>T |
p.T2363= |
Synonymous |
43/82 |
- |
2 |
7-21757500-G-A |
c.7091G>A |
p.S2364N |
Missense |
43/82 |
- |
1 |
7-21757502-T-C |
c.7093T>C |
p.F2365L |
Missense |
43/82 |
- |
1 |
7-21757508-A-C |
c.7099A>C |
p.T2367P |
Missense |
43/82 |
- |
1 |
7-21757509-C-T |
c.7100C>T |
p.T2367I |
Missense |
43/82 |
- |
1 |
7-21757514-A-G |
c.7105A>G |
p.T2369A |
Missense |
43/82 |
- |
1 |
7-21757518-C-G |
c.7109C>G |
p.S2370* |
Nonsense |
43/82 |
- |
2 |
7-21757519-A-T |
c.7110A>T |
p.S2370= |
Synonymous |
43/82 |
- |
2 |
7-21757523-C-T |
c.7114C>T |
p.P2372S |
Missense |
43/82 |
- |
2 |
7-21757524-C-A |
c.7115C>A |
p.P2372H |
Missense |
43/82 |
- |
1 |
7-21757524-C-G |
c.7115C>G |
p.P2372R |
Missense |
43/82 |
- |
1 |
7-21757527-A-G |
c.7118A>G |
p.E2373G |
Missense |
43/82 |
- |
1 |
7-21757528-G-GC |
c.7119_7120insC |
p.S2374Qfs*2 |
Frameshift |
43/82 |
- |
2 |
7-21757529-A-T |
c.7120A>T |
p.S2374C |
Missense |
43/82 |
- |
2 |
7-21757530-G-A |
c.7121G>A |
p.S2374N |
Missense |
43/82 |
- |
1 |
7-21757532-A-C |
c.7123A>C |
p.S2375R |
Missense |
43/82 |
- |
1 |
7-21757534-C-A |
c.7125C>A |
p.S2375R |
Missense |
43/82 |
- |
3 |
7-21757534-C-G |
c.7125C>G |
p.S2375R |
Missense |
43/82 |
- |
1 |
7-21757538-G-A |
c.7129G>A |
p.V2377M |
Missense |
43/82 |
- |
1 |
7-21757544-G-A |
c.7134+1G>A |
- |
IntronicSNV |
- |
43/81 |
1 |
7-21757570-G-A |
c.7134+27G>A |
- |
IntronicSNV |
- |
43/81 |
1 |
7-21757578-T-C |
c.7134+35T>C |
- |
IntronicSNV |
- |
43/81 |
2 |
7-21757578-T-G |
c.7134+35T>G |
- |
IntronicSNV |
- |
43/81 |
1 |
7-21757636-G-A |
c.7134+93G>A |
- |
IntronicSNV |
- |
43/81 |
7 |
7-21757690-G-A |
c.7134+147G>A |
- |
IntronicSNV |
- |
43/81 |
3 |
7-21757690-G-C |
c.7134+147G>C |
- |
IntronicSNV |
- |
43/81 |
2 |
7-21757807-A-T |
c.7134+264A>T |
- |
IntronicSNV |
- |
43/81 |
1 |
7-21757818-G-A |
c.7134+275G>A |
- |
IntronicSNV |
- |
43/81 |
1 |
7-21758045-T-A |
c.7134+502T>A |
- |
IntronicSNV |
- |
43/81 |
2 |
7-21758045-T-G |
c.7134+502T>G |
- |
IntronicSNV |
- |
43/81 |
2 |
7-21760343-GACTCTATGTGTTCTTTTGGAGTGCTTGCTGACTCCTGAAAATGTACCTTCTGACAGCCC-G |
c.7136_7194del |
p.T2379Kfs*5 |
InFrameDeletion |
44/82 |
- |
3 |
7-21760346-C-G |
c.7138C>G |
p.L2380V |
Missense |
44/82 |
- |
1 |
7-21760352-G-A |
c.7144G>A |
p.V2382I |
Missense |
44/82 |
- |
1 |
7-21760355-C-A |
c.7147C>A |
p.L2383I |
Missense |
44/82 |
- |
2 |
7-21760355-C-T |
c.7147C>T |
p.L2383F |
Missense |
44/82 |
- |
3 |
7-21760356-T-C |
c.7148T>C |
p.L2383P |
Missense |
44/82 |
- |
5 |
7-21760363-G-T |
c.7155G>T |
p.E2385D |
Missense |
44/82 |
- |
1 |
7-21760365-G-A |
c.7157G>A |
p.C2386Y |
Missense |
44/82 |
- |
2 |
7-21760367-T-G |
c.7159T>G |
p.L2387V |
Missense |
44/82 |
- |
1 |
7-21760367-TTG-ATC |
c.7159_7161delinsATC |
p.L2387I |
Missense |
44/82 |
- |
1 |
7-21760368-T-G |
c.7160T>G |
p.L2387W |
Missense |
44/82 |
- |
2 |
7-21760376-CC-TT |
c.7168_7169delinsTT |
p.P2390F |
Missense |
44/82 |
- |
1 |
7-21760376-C-G |
c.7168C>G |
p.P2390A |
Missense |
44/82 |
- |
2 |
7-21760376-C-T |
c.7168C>T |
p.P2390S |
Missense |
44/82 |
- |
2 |
7-21760388-C-G |
c.7180C>G |
p.P2394A |
Missense |
44/82 |
- |
2 |
7-21760389-C-T |
c.7181C>T |
p.P2394L |
Missense |
44/82 |
- |
1 |
7-21760395-A-G |
c.7187A>G |
p.D2396G |
Missense |
44/82 |
- |
1 |
7-21760398-G-A |
c.7190G>A |
p.S2397N |
Missense |
44/82 |
- |
1 |
7-21760398-G-T |
c.7190G>T |
p.S2397I |
Missense |
44/82 |
- |
1 |
7-21760400-C-G |
c.7192C>G |
p.P2398A |
Missense |
44/82 |
- |
1 |
7-21760401-CAAA-C |
c.7195_7197del |
p.K2399del |
InFrameDeletion |
44/82 |
- |
1 |
7-21760406-G-A |
c.7198G>A |
p.E2400K |
Missense |
44/82 |
- |
3 |
7-21760408-A-C |
c.7200A>C |
p.E2400D |
Missense |
44/82 |
- |
1 |
7-21760408-A-T |
c.7200A>T |
p.E2400D |
Missense |
44/82 |
- |
1 |
7-21760412-T-A |
c.7204T>A |
p.Y2402N |
Missense |
44/82 |
- |
1 |
7-21760412-T-G |
c.7204T>G |
p.Y2402D |
Missense |
44/82 |
- |
1 |
7-21760416-A-C |
c.7208A>C |
p.E2403A |
Missense |
44/82 |
- |
1 |
7-21760418-G-A |
c.7210G>A |
p.V2404I |
Missense |
44/82 |
- |
1 |
7-21760419-T-G |
c.7211T>G |
p.V2404G |
Missense |
44/82 |
- |
1 |
7-21760420-C-T |
c.7212C>T |
p.V2404= |
Synonymous |
44/82 |
- |
1 |
7-21760421-T-A |
c.7213T>A |
p.Y2405N |
Missense |
44/82 |
- |
1 |
7-21760422-A-AT |
c.7218dup |
p.V2407Cfs*19 |
Frameshift |
44/82 |
- |
1 |
7-21760422-AT-A |
c.7218del |
p.F2406Lfs*33 |
Frameshift |
44/82 |
- |
1 |
7-21760427-G-A |
c.7219G>A |
p.V2407I |
Missense |
44/82 |
- |
1 |
7-21760427-G-GT |
c.7220dup |
p.F2408Ifs*18 |
Frameshift |
44/82 |
- |
1 |
7-21760437-G-T |
c.7229G>T |
p.C2410F |
Missense |
44/82 |
- |
1 |
7-21760439-A-T |
c.7231A>T |
p.I2411F |
Missense |
44/82 |
- |
1 |
7-21760441-C-G |
c.7233C>G |
p.I2411M |
Missense |
44/82 |
- |
1 |
7-21760446-C-T |
c.7238C>T |
p.A2413V |
Missense |
44/82 |
- |
2 |
7-21760448-T-G |
c.7240T>G |
p.F2414V |
Missense |
44/82 |
- |
2 |
7-21760452-G-C |
c.7244G>C |
p.G2415A |
Missense |
44/82 |
- |
1 |
7-21760454-G-A |
c.7246G>A |
p.G2416S |
Missense |
44/82 |
- |
1 |
7-21760456-C-T |
c.7248C>T |
p.G2416= |
Synonymous |
44/82 |
- |
1 |
7-21760457-A-C |
c.7249A>C |
p.T2417P |
Missense |
44/82 |
- |
1 |
7-21760460-C-G |
c.7252C>G |
p.L2418V |
Missense |
44/82 |
- |
1 |
7-21760464-T-C |
c.7256T>C |
p.L2419P |
Missense |
44/82 |
- |
1 |
7-21760472-C-T |
c.7264C>T |
p.Q2422* |
Nonsense |
44/82 |
- |
1 |
7-21760475-G-A |
c.7266+1G>A |
- |
IntronicSNV |
- |
44/81 |
4 |
7-21760477-A-G |
c.7266+3A>G |
- |
IntronicSNV |
- |
44/81 |
1 |
7-21760554-T-C |
c.7266+80T>C |
- |
IntronicSNV |
- |
44/81 |
1 |
7-21765403-A-C |
c.7267-26A>C |
- |
IntronicSNV |
- |
44/81 |
4 |
7-21765403-A-G |
c.7267-26A>G |
- |
IntronicSNV |
- |
44/81 |
4 |
7-21765433-C-G |
c.7271C>G |
p.S2424C |
Missense |
45/82 |
- |
3 |
7-21765433-C-T |
c.7271C>T |
p.S2424F |
Missense |
45/82 |
- |
1 |
7-21765435-G-C |
c.7273G>C |
p.D2425H |
Missense |
45/82 |
- |
1 |
7-21765441-C-G |
c.7279C>G |
p.Q2427E |
Missense |
45/82 |
- |
2 |
7-21765447-G-C |
c.7285G>C |
p.D2429H |
Missense |
45/82 |
- |
1 |
7-21765449-C-T |
c.7287C>T |
p.D2429= |
Synonymous |
45/82 |
- |
1 |
7-21765452-C-G |
c.7290C>G |
p.F2430L |
Missense |
45/82 |
- |
7 |
7-21765452-C-T |
c.7290C>T |
p.F2430= |
Synonymous |
45/82 |
- |
16 |
7-21765453-AG-TT |
c.7291_7292delinsTT |
p.S2431F |
Missense |
45/82 |
- |
1 |
7-21765453-A-T |
c.7291A>T |
p.S2431C |
Missense |
45/82 |
- |
1 |
7-21765454-G-A |
c.7292G>A |
p.S2431N |
Missense |
45/82 |
- |
1 |
7-21765454-G-T |
c.7292G>T |
p.S2431I |
Missense |
45/82 |
- |
6 |
7-21765456-C-T |
c.7294C>T |
p.R2432W |
Missense |
45/82 |
- |
2 |
7-21765457-G-A |
c.7295G>A |
p.R2432Q |
Missense |
45/82 |
- |
4 |
7-21765458-G-A |
c.7296G>A |
p.R2432= |
Synonymous |
45/82 |
- |
1 |
7-21765460-G-C |
c.7298G>C |
p.W2433S |
Missense |
45/82 |
- |
1 |
7-21765465-C-T |
c.7303C>T |
p.Q2435* |
Nonsense |
45/82 |
- |
1 |
7-21765467-G-A |
c.7305G>A |
p.Q2435= |
Synonymous |
45/82 |
- |
1 |
7-21765471-G-T |
c.7309G>T |
p.E2437* |
Nonsense |
45/82 |
- |
1 |
7-21765473-G-A |
c.7311G>A |
p.E2437= |
Synonymous |
45/82 |
- |
1 |
7-21765473-G-C |
c.7311G>C |
p.E2437D |
Missense |
45/82 |
- |
1 |
7-21765473-G-T |
c.7311G>T |
p.E2437D |
Missense |
45/82 |
- |
1 |
7-21765474-A-T |
c.7312A>T |
p.M2438L |
Missense |
45/82 |
- |
1 |
7-21765480-G-T |
c.7318G>T |
p.A2440S |
Missense |
45/82 |
- |
2 |
7-21765481-C-T |
c.7319C>T |
p.A2440V |
Missense |
45/82 |
- |
1 |
7-21765485-G-A |
c.7323G>A |
p.V2441= |
Synonymous |
45/82 |
- |
2 |
7-21765485-G-C |
c.7323G>C |
p.V2441= |
Synonymous |
45/82 |
- |
2 |
7-21765485-G-T |
c.7323G>T |
p.V2441= |
Synonymous |
45/82 |
- |
2 |
7-21765487-A-G |
c.7325A>G |
p.K2442R |
Missense |
45/82 |
- |
1 |
7-21765493-C-T |
c.7331C>T |
p.P2444L |
Missense |
45/82 |
- |
3 |
7-21765496-C-T |
c.7334C>T |
p.S2445L |
Missense |
45/82 |
- |
1 |
7-21765497-G-A |
c.7335G>A |
p.S2445= |
Synonymous |
45/82 |
- |
11 |
7-21765497-G-C |
c.7335G>C |
p.S2445= |
Synonymous |
45/82 |
- |
2 |
7-21765497-G-T |
c.7335G>T |
p.S2445= |
Synonymous |
45/82 |
- |
10 |
7-21765498-C-T |
c.7336C>T |
p.Q2446* |
Nonsense |
45/82 |
- |
1 |
7-21765501-G-A |
c.7339G>A |
p.G2447R |
Missense |
45/82 |
- |
1 |
7-21765501-G-C |
c.7339G>C |
p.G2447R |
Missense |
45/82 |
- |
1 |
7-21765505-C-A |
c.7343C>A |
p.T2448K |
Missense |
45/82 |
- |
1 |
7-21765507-A-C |
c.7345A>C |
p.I2449L |
Missense |
45/82 |
- |
1 |
7-21765508-T-A |
c.7346T>A |
p.I2449N |
Missense |
45/82 |
- |
1 |
7-21765513-G-A |
c.7351G>A |
p.D2451N |
Missense |
45/82 |
- |
2 |
7-21765513-G-C |
c.7351G>C |
p.D2451H |
Missense |
45/82 |
- |
1 |
7-21765518-T-A |
c.7356T>A |
p.Y2452* |
Nonsense |
45/82 |
- |
1 |
7-21765518-T-G |
c.7356T>G |
p.Y2452* |
Nonsense |
45/82 |
- |
1 |
7-21765525-G-A |
c.7363G>A |
p.D2455N |
Missense |
45/82 |
- |
1 |
7-21765526-A-C |
c.7364A>C |
p.D2455A |
Missense |
45/82 |
- |
2 |
7-21765526-A-G |
c.7364A>G |
p.D2455G |
Missense |
45/82 |
- |
2 |
7-21765528-C-A |
c.7366C>A |
p.H2456N |
Missense |
45/82 |
- |
1 |
7-21765539-G-C |
c.7377G>C |
p.K2459N |
Missense |
45/82 |
- |
2 |
7-21765541-A-G |
c.7379A>G |
p.K2460R |
Missense |
45/82 |
- |
2 |
7-21765541-A-T |
c.7379A>T |
p.K2460I |
Missense |
45/82 |
- |
1 |
7-21765545-A-T |
c.7383A>T |
p.L2461F |
Missense |
45/82 |
- |
2 |
7-21765546-T-A |
c.7384T>A |
p.L2462M |
Missense |
45/82 |
- |
2 |
7-21765546-T-C |
c.7384T>C |
p.L2462= |
Synonymous |
45/82 |
- |
2 |
7-21765548-G-A |
c.7386G>A |
p.L2462= |
Synonymous |
45/82 |
- |
2 |
7-21765548-G-T |
c.7386G>T |
p.L2462F |
Missense |
45/82 |
- |
1 |
7-21765550-C-T |
c.7388C>T |
p.P2463L |
Missense |
45/82 |
- |
1 |
7-21765555-G-C |
c.7393G>C |
p.A2465P |
Missense |
45/82 |
- |
1 |
7-21765555-G-T |
c.7393G>T |
p.A2465S |
Missense |
45/82 |
- |
1 |
7-21765565-T-C |
c.7403T>C |
p.I2468T |
Missense |
45/82 |
- |
1 |
7-21765574-T-A |
c.7412T>A |
p.F2471Y |
Missense |
45/82 |
- |
1 |
7-21765579-A-G |
c.7417A>G |
p.M2473V |
Missense |
45/82 |
- |
1 |
7-21765581-G-T |
c.7419G>T |
p.M2473I |
Missense |
45/82 |
- |
1 |
7-21765582-G-A |
c.7420G>A |
p.D2474N |
Missense |
45/82 |
- |
1 |
7-21765609-G-A |
c.7440+7G>A |
- |
IntronicSNV |
- |
45/81 |
1 |
7-21765636-T-C |
c.7440+34T>C |
- |
IntronicSNV |
- |
45/81 |
7 |
7-21765665-C-A |
c.7440+63C>A |
- |
IntronicSNV |
- |
45/81 |
1 |
7-21765827-G-A |
c.7440+225G>A |
- |
IntronicSNV |
- |
45/81 |
2 |
7-21766737-G-C |
c.7440+1135G>C |
- |
IntronicSNV |
- |
45/81 |
1 |
7-21771465-G-A |
c.7441-3793G>A |
- |
IntronicSNV |
- |
45/81 |
1 |
7-21775063-G-A |
c.7441-195G>A |
- |
IntronicSNV |
- |
45/81 |
1 |
7-21775153-A-C |
c.7441-105A>C |
- |
IntronicSNV |
- |
45/81 |
5 |
7-21775196-T-TCTCTCTCGCACGCG |
c.7441-49_7441-48insGCTCTCTCGCACGC |
- |
IntronicInsertion |
- |
45/81 |
2 |
7-21775210-A-G |
c.7441-48A>G |
- |
IntronicSNV |
- |
45/81 |
7 |
7-21775210-A-T |
c.7441-48A>T |
- |
IntronicSNV |
- |
45/81 |
7 |
7-21775212-T-G |
c.7441-46T>G |
- |
IntronicSNV |
- |
45/81 |
1 |
7-21775266-C-A |
c.7449C>A |
p.L2483= |
Synonymous |
46/82 |
- |
1 |
7-21775266-C-G |
c.7449C>G |
p.L2483= |
Synonymous |
46/82 |
- |
1 |
7-21775266-C-T |
c.7449C>T |
p.L2483= |
Synonymous |
46/82 |
- |
1 |
7-21775267-G-A |
c.7450G>A |
p.V2484I |
Missense |
46/82 |
- |
3 |
7-21775273-A-G |
c.7456A>G |
p.T2486A |
Missense |
46/82 |
- |
1 |
7-21775274-C-A |
c.7457C>A |
p.T2486K |
Missense |
46/82 |
- |
1 |
7-21775274-C-T |
c.7457C>T |
p.T2486I |
Missense |
46/82 |
- |
1 |
7-21775277-C-T |
c.7460C>T |
p.T2487I |
Missense |
46/82 |
- |
1 |
7-21775281-G-A |
c.7464G>A |
p.E2488= |
Synonymous |
46/82 |
- |
2 |
7-21775282-A-C |
c.7465A>C |
p.T2489P |
Missense |
46/82 |
- |
1 |
7-21775285-G-A |
c.7468G>A |
p.A2490T |
Missense |
46/82 |
- |
2 |
7-21775288-C-T |
c.7471C>T |
p.R2491C |
Missense |
46/82 |
- |
2 |
7-21775289-G-A |
c.7472G>A |
p.R2491H |
Missense |
46/82 |
- |
2 |
7-21775289-G-C |
c.7472G>C |
p.R2491P |
Missense |
46/82 |
- |
1 |
7-21775296-A-G |
c.7479A>G |
p.R2493= |
Synonymous |
46/82 |
- |
1 |
7-21775302-C-T |
c.7485C>T |
p.F2495= |
Synonymous |
46/82 |
- |
1 |
7-21775303-A-G |
c.7486A>G |
p.M2496V |
Missense |
46/82 |
- |
1 |
7-21775305-G-A |
c.7488G>A |
p.M2496I |
Missense |
46/82 |
- |
3 |
7-21775305-G-C |
c.7488G>C |
p.M2496I |
Missense |
46/82 |
- |
1 |
7-21775305-G-T |
c.7488G>T |
p.M2496I |
Missense |
46/82 |
- |
1 |
7-21775307-A-T |
c.7490A>T |
p.E2497V |
Missense |
46/82 |
- |
3 |
7-21775311-G-A |
c.7494G>A |
p.L2498= |
Synonymous |
46/82 |
- |
1 |
7-21775312-T-C |
c.7495T>C |
p.L2499= |
Synonymous |
46/82 |
- |
2 |
7-21775312-TTG-ATC |
c.7495_7497delinsATC |
p.L2499I |
Missense |
46/82 |
- |
1 |
7-21775318-G-C |
c.7501G>C |
p.E2501Q |
Missense |
46/82 |
- |
1 |
7-21775318-G-T |
c.7501G>T |
p.E2501* |
Nonsense |
46/82 |
- |
1 |
7-21775320-G-A |
c.7503G>A |
p.E2501= |
Synonymous |
46/82 |
- |
1 |
7-21775323-AGGAAAACCTCTAAT-A |
c.7508_7521del |
p.G2503Afs*15 |
Frameshift |
46/82 |
- |
2 |
7-21775324-G-GGTT |
c.7508_7509insTTG |
p.G2503_K2504ins* |
Nonsense |
46/82 |
- |
1 |
7-21775325-G-A |
c.7508G>A |
p.G2503E |
Missense |
46/82 |
- |
5 |
7-21775325-G-T |
c.7508G>T |
p.G2503V |
Missense |
46/82 |
- |
1 |
7-21775329-A-G |
c.7512A>G |
p.K2504= |
Synonymous |
46/82 |
- |
1 |
7-21775334-T-C |
c.7517T>C |
p.L2506P |
Missense |
46/82 |
- |
1 |
7-21775342-G-A |
c.7525G>A |
p.V2509I |
Missense |
46/82 |
- |
1 |
7-21775343-T-C |
c.7526T>C |
p.V2509A |
Missense |
46/82 |
- |
2 |
7-21775345-G-A |
c.7528G>A |
p.G2510R |
Missense |
46/82 |
- |
3 |
7-21775345-G-C |
c.7528G>C |
p.G2510R |
Missense |
46/82 |
- |
1 |
7-21775346-G-A |
c.7529G>A |
p.G2510E |
Missense |
46/82 |
- |
3 |
7-21775351-G-T |
c.7534G>T |
p.A2512S |
Missense |
46/82 |
- |
1 |
7-21775352-C-A |
c.7535C>A |
p.A2512E |
Missense |
46/82 |
- |
1 |
7-21775355-G-A |
c.7538G>A |
p.G2513E |
Missense |
46/82 |
- |
1 |
7-21775355-G-T |
c.7538G>T |
p.G2513V |
Missense |
46/82 |
- |
1 |
7-21775357-GTG-ATC |
c.7540_7542delinsATC |
p.V2514I |
Missense |
46/82 |
- |
1 |
7-21775361-G-A |
c.7544G>A |
p.G2515E |
Missense |
46/82 |
- |
4 |
7-21775361-GGA-G |
c.7544_7545del |
p.G2515Efs*7 |
Frameshift |
46/82 |
- |
1 |
7-21775361-GA-G |
c.7549del |
p.T2517Qfs*4 |
Frameshift |
46/82 |
- |
1 |
7-21775366-A-G |
c.7549A>G |
p.T2517A |
Missense |
46/82 |
- |
6 |
7-21775367-C-A |
c.7550C>A |
p.T2517K |
Missense |
46/82 |
- |
2 |
7-21775369-G-A |
c.7552G>A |
p.V2518I |
Missense |
46/82 |
- |
15 |
7-21775370-T-C |
c.7553T>C |
p.V2518A |
Missense |
46/82 |
- |
1 |
7-21775371-C-A |
c.7554C>A |
p.V2518= |
Synonymous |
46/82 |
- |
1 |
7-21775371-C-G |
c.7554C>G |
p.V2518= |
Synonymous |
46/82 |
- |
1 |
7-21775371-C-T |
c.7554C>T |
p.V2518= |
Synonymous |
46/82 |
- |
1 |
7-21775373-T-A |
c.7556T>A |
p.F2519Y |
Missense |
46/82 |
- |
1 |
7-21775375-G-A |
c.7558G>A |
p.V2520I |
Missense |
46/82 |
- |
1 |
7-21775376-T-C |
c.7559T>C |
p.V2520A |
Missense |
46/82 |
- |
1 |
7-21775378-G-C |
c.7561G>C |
p.G2521R |
Missense |
46/82 |
- |
1 |
7-21775380-T-A |
c.7563T>A |
p.G2521= |
Synonymous |
46/82 |
- |
1 |
7-21775387-T-A |
c.7570T>A |
p.L2524M |
Missense |
46/82 |
- |
4 |
7-21775387-T-C |
c.7570T>C |
p.L2524= |
Synonymous |
46/82 |
- |
8 |
7-21775387-T-G |
c.7570T>G |
p.L2524V |
Missense |
46/82 |
- |
3 |
7-21775389-G-A |
c.7572G>A |
p.L2524= |
Synonymous |
46/82 |
- |
1 |
7-21775388-T-C |
c.7571T>C |
p.L2524S |
Missense |
46/82 |
- |
1 |
7-21775390-G-A |
c.7573G>A |
p.A2525T |
Missense |
46/82 |
- |
1 |
7-21775391-C-T |
c.7574C>T |
p.A2525V |
Missense |
46/82 |
- |
2 |
7-21775393-A-T |
c.7576A>T |
p.S2526C |
Missense |
46/82 |
- |
1 |
7-21775397-T-C |
c.7580T>C |
p.L2527P |
Missense |
46/82 |
- |
1 |
7-21775402-G-T |
c.7585G>T |
p.E2529* |
Nonsense |
46/82 |
- |
2 |
7-21775403-A-G |
c.7586A>G |
p.E2529G |
Missense |
46/82 |
- |
1 |
7-21775404-G-A |
c.7587G>A |
p.E2529= |
Synonymous |
46/82 |
- |
1 |
7-21775406-A-C |
c.7589A>C |
p.D2530A |
Missense |
46/82 |
- |
1 |
7-21775406-A-G |
c.7589A>G |
p.D2530G |
Missense |
46/82 |
- |
7 |
7-21775408-T-C |
c.7591T>C |
p.Y2531H |
Missense |
46/82 |
- |
1 |
7-21775417-T-G |
c.7600T>G |
p.S2534A |
Missense |
46/82 |
- |
1 |
7-21775420-C-A |
c.7603C>A |
p.R2535S |
Missense |
46/82 |
- |
1 |
7-21775421-G-A |
c.7604G>A |
p.R2535H |
Missense |
46/82 |
- |
3 |
7-21775423-G-C |
c.7606G>C |
p.V2536L |
Missense |
46/82 |
- |
1 |
7-21775426-C-T |
c.7609C>T |
p.P2537S |
Missense |
46/82 |
- |
2 |
7-21775437-C-A |
c.7620C>A |
p.Y2540* |
Nonsense |
46/82 |
- |
1 |
7-21775438-T-C |
c.7621T>C |
p.Y2541H |
Missense |
46/82 |
- |
1 |
7-21775443-G-A |
c.7626G>A |
p.T2542= |
Synonymous |
46/82 |
- |
24 |
7-21775443-G-C |
c.7626G>C |
p.T2542= |
Synonymous |
46/82 |
- |
12 |
7-21775443-G-T |
c.7626G>T |
p.T2542= |
Synonymous |
46/82 |
- |
22 |
7-21775447-T-C |
c.7630T>C |
p.S2544P |
Missense |
46/82 |
- |
3 |
7-21775447-TC-CT |
c.7630_7631delinsCT |
p.S2544L |
Missense |
46/82 |
- |
1 |
7-21775453-G-T |
c.7636G>T |
p.A2546S |
Missense |
46/82 |
- |
1 |
7-21775454-C-A |
c.7637C>A |
p.A2546D |
Missense |
46/82 |
- |
1 |
7-21775454-C-G |
c.7637C>G |
p.A2546G |
Missense |
46/82 |
- |
1 |
7-21775454-C-T |
c.7637C>T |
p.A2546V |
Missense |
46/82 |
- |
1 |
7-21775456-C-T |
c.7639C>T |
p.L2547= |
Synonymous |
46/82 |
- |
1 |
7-21775458-G-A |
c.7641G>A |
p.L2547= |
Synonymous |
46/82 |
- |
1 |
7-21775458-G-C |
c.7641G>C |
p.L2547= |
Synonymous |
46/82 |
- |
1 |
7-21775458-G-T |
c.7641G>T |
p.L2547= |
Synonymous |
46/82 |
- |
2 |
7-21775459-C-T |
c.7642C>T |
p.Q2548* |
Nonsense |
46/82 |
- |
2 |
7-21775467-G-A |
c.7645+5G>A |
- |
IntronicSNV |
- |
46/81 |
2 |
7-21775521-A-T |
c.7645+59A>T |
- |
IntronicSNV |
- |
46/81 |
2 |
7-21775819-G-T |
c.7645+357G>T |
- |
IntronicSNV |
- |
46/81 |
1 |
7-21777455-T-G |
c.7646-864T>G |
- |
IntronicSNV |
- |
46/81 |
1 |
7-21778173-T-G |
c.7646-146T>G |
- |
IntronicSNV |
- |
46/81 |
1 |
7-21778175-C-T |
c.7646-144C>T |
- |
IntronicSNV |
- |
46/81 |
2 |
7-21778197-G-A |
c.7646-122G>A |
- |
IntronicSNV |
- |
46/81 |
2 |
7-21778200-C-T |
c.7646-119C>T |
- |
IntronicSNV |
- |
46/81 |
2 |
7-21778263-C-G |
c.7646-56C>G |
- |
IntronicSNV |
- |
46/81 |
1 |
7-21778322-T-C |
c.7649T>C |
p.I2550T |
Missense |
47/82 |
- |
1 |
7-21778324-C-A |
c.7651C>A |
p.L2551I |
Missense |
47/82 |
- |
1 |
7-21778324-C-T |
c.7651C>T |
p.L2551F |
Missense |
47/82 |
- |
4 |
7-21778327-G-A |
c.7654G>A |
p.E2552K |
Missense |
47/82 |
- |
1 |
7-21778328-A-G |
c.7655A>G |
p.E2552G |
Missense |
47/82 |
- |
1 |
7-21778329-G-C |
c.7656G>C |
p.E2552D |
Missense |
47/82 |
- |
2 |
7-21778341-G-A |
c.7668G>A |
p.E2556= |
Synonymous |
47/82 |
- |
2 |
7-21778342-A-T |
c.7669A>T |
p.K2557* |
Nonsense |
47/82 |
- |
1 |
7-21778341-G-GA |
c.7674dup |
p.A2559Sfs*4 |
Frameshift |
47/82 |
- |
2 |
7-21778351-G-A |
c.7678G>A |
p.G2560S |
Missense |
47/82 |
- |
1 |
7-21778352-G-C |
c.7679G>C |
p.G2560A |
Missense |
47/82 |
- |
2 |
7-21778361-A-G |
c.7688A>G |
p.Y2563C |
Missense |
47/82 |
- |
1 |
7-21778369-G-A |
c.7696G>A |
p.G2566R |
Missense |
47/82 |
- |
1 |
7-21778369-G-C |
c.7696G>C |
p.G2566R |
Missense |
47/82 |
- |
1 |
7-21778372-G-A |
c.7699G>A |
p.G2567R |
Missense |
47/82 |
- |
1 |
7-21778372-G-T |
c.7699G>T |
p.G2567* |
Nonsense |
47/82 |
- |
1 |
7-21778373-G-A |
c.7700G>A |
p.G2567E |
Missense |
47/82 |
- |
3 |
7-21778376-A-AT |
c.7704dup |
p.K2569* |
Nonsense |
47/82 |
- |
1 |
7-21778380-A-AT |
c.7707_7708insT |
p.K2570* |
Nonsense |
47/82 |
- |
1 |
7-21778386-G-C |
c.7713G>C |
p.L2571F |
Missense |
47/82 |
- |
1 |
7-21778386-G-T |
c.7713G>T |
p.L2571F |
Missense |
47/82 |
- |
1 |
7-21778387-A-T |
c.7714A>T |
p.I2572F |
Missense |
47/82 |
- |
1 |
7-21778398-C-A |
c.7725C>A |
p.I2575= |
Synonymous |
47/82 |
- |
1 |
7-21778399-G-A |
c.7726G>A |
p.D2576N |
Missense |
47/82 |
- |
3 |
7-21778402-G-A |
c.7729G>A |
p.D2577N |
Missense |
47/82 |
- |
2 |
7-21778402-G-C |
c.7729G>C |
p.D2577H |
Missense |
47/82 |
- |
2 |
7-21778407-G-A |
c.7734G>A |
p.M2578I |
Missense |
47/82 |
- |
1 |
7-21778411-A-C |
c.7738A>C |
p.M2580L |
Missense |
47/82 |
- |
1 |
7-21778411-A-T |
c.7738A>T |
p.M2580L |
Missense |
47/82 |
- |
2 |
7-21778416-T-A |
c.7743T>A |
p.P2581= |
Synonymous |
47/82 |
- |
1 |
7-21778416-T-C |
c.7743T>C |
p.P2581= |
Synonymous |
47/82 |
- |
1 |
7-21778416-T-G |
c.7743T>G |
p.P2581= |
Synonymous |
47/82 |
- |
2 |
7-21778420-G-A |
c.7747G>A |
p.V2583M |
Missense |
47/82 |
- |
1 |
7-21778422-G-A |
c.7749G>A |
p.V2583= |
Synonymous |
47/82 |
- |
2 |
7-21778423-G-A |
c.7750G>A |
p.D2584N |
Missense |
47/82 |
- |
2 |
7-21778423-G-T |
c.7750G>T |
p.D2584Y |
Missense |
47/82 |
- |
2 |
7-21778425-C-A |
c.7752C>A |
p.D2584E |
Missense |
47/82 |
- |
1 |
7-21778425-C-G |
c.7752C>G |
p.D2584E |
Missense |
47/82 |
- |
1 |
7-21778429-T-C |
c.7756T>C |
p.Y2586H |
Missense |
47/82 |
- |
10 |
7-21778431-T-C |
c.7758T>C |
p.Y2586= |
Synonymous |
47/82 |
- |
1 |
7-21778438-G-A |
c.7765G>A |
p.V2589I |
Missense |
47/82 |
- |
5 |
7-21778441-C-T |
c.7768C>T |
p.Q2590* |
Nonsense |
47/82 |
- |
1 |
7-21778443-G-A |
c.7770G>A |
p.Q2590= |
Synonymous |
47/82 |
- |
1 |
7-21778445-C-T |
c.7772C>T |
p.P2591L |
Missense |
47/82 |
- |
3 |
7-21778449-C-A |
c.7776C>A |
p.H2592Q |
Missense |
47/82 |
- |
10 |
7-21778449-C-T |
c.7776C>T |
p.H2592= |
Synonymous |
47/82 |
- |
22 |
7-21778455-TGA-T |
c.7782_7783del |
p.I2595Pfs*5 |
Frameshift |
47/82 |
- |
1 |
7-21778459-C-T |
c.7786C>T |
p.R2596W |
Missense |
47/82 |
- |
4 |
7-21778460-G-A |
c.7787G>A |
p.R2596Q |
Missense |
47/82 |
- |
2 |
7-21778462-C-T |
c.7789C>T |
p.Q2597* |
Nonsense |
47/82 |
- |
1 |
7-21778462-GCAGCATATTGATTATGGACATTGGTAAGCAAGTCTCTGTAGTTTACTCTCTCCCAAAAT-G |
c.7790_7811+37del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
47/82 |
47/81 |
1 |
7-21778468-A-G |
c.7795A>G |
p.I2599V |
Missense |
47/82 |
- |
1 |
7-21778471-G-A |
c.7798G>A |
p.D2600N |
Missense |
47/82 |
- |
3 |
7-21778473-T-C |
c.7800T>C |
p.D2600= |
Synonymous |
47/82 |
- |
1 |
7-21778477-G-A |
c.7804G>A |
p.G2602R |
Missense |
47/82 |
- |
2 |
7-21778477-G-C |
c.7804G>C |
p.G2602R |
Missense |
47/82 |
- |
2 |
7-21778484-G-A |
c.7811G>A |
p.W2604* |
Nonsense |
47/82 |
- |
6 |
7-21779189-G-A |
c.7812G>A |
p.W2604* |
Nonsense |
48/82 |
- |
7 |
7-21778529-T-C |
c.7811+45T>C |
- |
IntronicSNV |
- |
47/81 |
2 |
7-21778529-T-G |
c.7811+45T>G |
- |
IntronicSNV |
- |
47/81 |
2 |
7-21778678-G-A |
c.7811+194G>A |
- |
IntronicSNV |
- |
47/81 |
1 |
7-21779084-G-A |
c.7812-105G>A |
- |
IntronicSNV |
- |
47/81 |
3 |
7-21779104-C-G |
c.7812-85C>G |
- |
IntronicSNV |
- |
47/81 |
2 |
7-21779104-C-T |
c.7812-85C>T |
- |
IntronicSNV |
- |
47/81 |
2 |
7-21779113-C-T |
c.7812-76C>T |
- |
IntronicSNV |
- |
47/81 |
1 |
7-21779191-A-G |
c.7814A>G |
p.Y2605C |
Missense |
48/82 |
- |
1 |
7-21779197-G-A |
c.7820G>A |
p.R2607K |
Missense |
48/82 |
- |
2 |
7-21779196-A-C |
c.7819A>C |
p.R2607= |
Synonymous |
48/82 |
- |
2 |
7-21779198-A-G |
c.7821A>G |
p.R2607= |
Synonymous |
48/82 |
- |
2 |
7-21779199-C-A |
c.7822C>A |
p.Q2608K |
Missense |
48/82 |
- |
1 |
7-21779201-G-A |
c.7824G>A |
p.Q2608= |
Synonymous |
48/82 |
- |
1 |
7-21779201-G-T |
c.7824G>T |
p.Q2608H |
Missense |
48/82 |
- |
2 |
7-21779203-A-T |
c.7826A>T |
p.K2609M |
Missense |
48/82 |
- |
2 |
7-21779211-C-T |
c.7834C>T |
p.L2612F |
Missense |
48/82 |
- |
2 |
7-21779215-A-G |
c.7838A>G |
p.K2613R |
Missense |
48/82 |
- |
1 |
7-21779217-G-C |
c.7840G>C |
p.E2614Q |
Missense |
48/82 |
- |
1 |
7-21779217-G-T |
c.7840G>T |
p.E2614* |
Nonsense |
48/82 |
- |
1 |
7-21779222-C-T |
c.7845C>T |
p.I2615= |
Synonymous |
48/82 |
- |
1 |
7-21779223-C-T |
c.7846C>T |
p.H2616Y |
Missense |
48/82 |
- |
1 |
7-21779224-A-G |
c.7847A>G |
p.H2616R |
Missense |
48/82 |
- |
1 |
7-21779224-A-T |
c.7847A>T |
p.H2616L |
Missense |
48/82 |
- |
2 |
7-21779227-A-G |
c.7850A>G |
p.N2617S |
Missense |
48/82 |
- |
1 |
7-21779228-C-T |
c.7851C>T |
p.N2617= |
Synonymous |
48/82 |
- |
1 |
7-21779238-G-A |
c.7861G>A |
p.V2621I |
Missense |
48/82 |
- |
2 |
7-21779240-C-A |
c.7863C>A |
p.V2621= |
Synonymous |
48/82 |
- |
1 |
7-21779240-C-G |
c.7863C>G |
p.V2621= |
Synonymous |
48/82 |
- |
1 |
7-21779240-C-T |
c.7863C>T |
p.V2621= |
Synonymous |
48/82 |
- |
2 |
7-21779241-G-A |
c.7864G>A |
p.A2622T |
Missense |
48/82 |
- |
2 |
7-21779243-C-T |
c.7866C>T |
p.A2622= |
Synonymous |
48/82 |
- |
2 |
7-21779253-C-T |
c.7876C>T |
p.P2626S |
Missense |
48/82 |
- |
1 |
7-21779254-C-T |
c.7877C>T |
p.P2626L |
Missense |
48/82 |
- |
3 |
7-21779255-G-A |
c.7878G>A |
p.P2626= |
Synonymous |
48/82 |
- |
2 |
7-21779255-G-C |
c.7878G>C |
p.P2626= |
Synonymous |
48/82 |
- |
2 |
7-21779255-G-T |
c.7878G>T |
p.P2626= |
Synonymous |
48/82 |
- |
2 |
7-21779261-G-T |
c.7884G>T |
p.V2628= |
Synonymous |
48/82 |
- |
1 |
7-21779262-G-A |
c.7885G>A |
p.G2629S |
Missense |
48/82 |
- |
2 |
7-21779263-G-A |
c.7886G>A |
p.G2629D |
Missense |
48/82 |
- |
1 |
7-21779266-G-A |
c.7889G>A |
p.S2630N |
Missense |
48/82 |
- |
1 |
7-21779268-T-A |
c.7891T>A |
p.F2631I |
Missense |
48/82 |
- |
3 |
7-21779270-C-T |
c.7893C>T |
p.F2631= |
Synonymous |
48/82 |
- |
2 |
7-21779272-CC-TG |
c.7895_7896delinsTG |
p.T2632M |
Missense |
48/82 |
- |
1 |
7-21779276-TC-T |
c.7899del |
p.N2634Ifs*21 |
Frameshift |
48/82 |
- |
1 |
7-21779278-A-G |
c.7901A>G |
p.N2634S |
Missense |
48/82 |
- |
32 |
7-21779278-A-T |
c.7901A>T |
p.N2634I |
Missense |
48/82 |
- |
11 |
7-21779279-T-C |
c.7902T>C |
p.N2634= |
Synonymous |
48/82 |
- |
1 |
7-21779280-C-T |
c.7903C>T |
p.P2635S |
Missense |
48/82 |
- |
4 |
7-21779283-AG-CA |
c.7906_7907delinsCA |
p.R2636Q |
Missense |
48/82 |
- |
1 |
7-21779284-G-A |
c.7907G>A |
p.R2636K |
Missense |
48/82 |
- |
1 |
7-21779284-G-T |
c.7907G>T |
p.R2636M |
Missense |
48/82 |
- |
1 |
7-21779285-G-C |
c.7908G>C |
p.R2636S |
Missense |
48/82 |
- |
1 |
7-21779289-C-A |
c.7912C>A |
p.Q2638K |
Missense |
48/82 |
- |
1 |
7-21779291-G-C |
c.7914G>C |
p.Q2638H |
Missense |
48/82 |
- |
6 |
7-21779291-G-T |
c.7914G>T |
p.Q2638H |
Missense |
48/82 |
- |
1 |
7-21779331-T-C |
c.7914+40T>C |
- |
IntronicSNV |
- |
48/81 |
7 |
7-21779665-G-A |
c.7914+374G>A |
- |
IntronicSNV |
- |
48/81 |
1 |
7-21781411-A-G |
c.7915-134A>G |
- |
IntronicSNV |
- |
48/81 |
1 |
7-21781546-G-A |
c.7916G>A |
p.R2639K |
Missense |
49/82 |
- |
2 |
7-21781546-G-C |
c.7916G>C |
p.R2639T |
Missense |
49/82 |
- |
1 |
7-21781552-T-C |
c.7922T>C |
p.F2641S |
Missense |
49/82 |
- |
1 |
7-21781557-G-A |
c.7927G>A |
p.V2643M |
Missense |
49/82 |
- |
2 |
7-21781562-T-A |
c.7932T>A |
p.F2644L |
Missense |
49/82 |
- |
1 |
7-21781562-T-G |
c.7932T>G |
p.F2644L |
Missense |
49/82 |
- |
1 |
7-21781563-G-T |
c.7933G>T |
p.A2645S |
Missense |
49/82 |
- |
1 |
7-21781567-T-G |
c.7937T>G |
p.F2646C |
Missense |
49/82 |
- |
2 |
7-21781568-C-T |
c.7938C>T |
p.F2646= |
Synonymous |
49/82 |
- |
1 |
7-21781573-T-A |
c.7943T>A |
p.F2648Y |
Missense |
49/82 |
- |
2 |
7-21781575-C-T |
c.7945C>T |
p.P2649S |
Missense |
49/82 |
- |
3 |
7-21781578-T-A |
c.7948T>A |
p.S2650T |
Missense |
49/82 |
- |
1 |
7-21781579-C-T |
c.7949C>T |
p.S2650F |
Missense |
49/82 |
- |
2 |
7-21781584-G-A |
c.7954G>A |
p.D2652N |
Missense |
49/82 |
- |
2 |
7-21781587-G-A |
c.7957G>A |
p.A2653T |
Missense |
49/82 |
- |
1 |
7-21781605-G-A |
c.7975G>A |
p.G2659S |
Missense |
49/82 |
- |
3 |
7-21781610-A-C |
c.7980A>C |
p.Q2660H |
Missense |
49/82 |
- |
3 |
7-21781610-A-T |
c.7980A>T |
p.Q2660H |
Missense |
49/82 |
- |
3 |
7-21781612-T-G |
c.7982T>G |
p.I2661S |
Missense |
49/82 |
- |
1 |
7-21781613-C-A |
c.7983C>A |
p.I2661= |
Synonymous |
49/82 |
- |
2 |
7-21781614-T-C |
c.7984T>C |
p.F2662L |
Missense |
49/82 |
- |
1 |
7-21781618-G-T |
c.7988G>T |
p.S2663I |
Missense |
49/82 |
- |
1 |
7-21781619-C-A |
c.7989C>A |
p.S2663R |
Missense |
49/82 |
- |
1 |
7-21781619-C-T |
c.7989C>T |
p.S2663= |
Synonymous |
49/82 |
- |
1 |
7-21781622-C-T |
c.7992C>T |
p.F2664= |
Synonymous |
49/82 |
- |
1 |
7-21781628-C-T |
c.7998C>T |
p.F2666= |
Synonymous |
49/82 |
- |
3 |
7-21781629-C-T |
c.7999C>T |
p.Q2667* |
Nonsense |
49/82 |
- |
1 |
7-21781637-A-G |
c.8007A>G |
p.Q2669= |
Synonymous |
49/82 |
- |
1 |
7-21781643-T-C |
c.8013T>C |
p.F2671= |
Synonymous |
49/82 |
- |
2 |
7-21781644-G-C |
c.8014G>C |
p.A2672P |
Missense |
49/82 |
- |
1 |
7-21781645-C-T |
c.8015C>T |
p.A2672V |
Missense |
49/82 |
- |
3 |
7-21781647-C-G |
c.8017C>G |
p.P2673A |
Missense |
49/82 |
- |
1 |
7-21781647-C-T |
c.8017C>T |
p.P2673S |
Missense |
49/82 |
- |
3 |
7-21781648-C-A |
c.8018C>A |
p.P2673Q |
Missense |
49/82 |
- |
1 |
7-21781648-C-T |
c.8018C>T |
p.P2673L |
Missense |
49/82 |
- |
3 |
7-21781651-C-T |
c.8021C>T |
p.S2674L |
Missense |
49/82 |
- |
1 |
7-21781653-A-C |
c.8023A>C |
p.I2675L |
Missense |
49/82 |
- |
2 |
7-21781653-A-G |
c.8023A>G |
p.I2675V |
Missense |
49/82 |
- |
8 |
7-21781653-A-T |
c.8023A>T |
p.I2675F |
Missense |
49/82 |
- |
3 |
7-21781656-C-A |
c.8026C>A |
p.L2676I |
Missense |
49/82 |
- |
1 |
7-21781658-C-T |
c.8028C>T |
p.L2676= |
Synonymous |
49/82 |
- |
1 |
7-21781659-A-G |
c.8029A>G |
p.R2677G |
Missense |
49/82 |
- |
1 |
7-21781661-G-A |
c.8031G>A |
p.R2677= |
Synonymous |
49/82 |
- |
1 |
7-21781661-G-T |
c.8031G>T |
p.R2677S |
Missense |
49/82 |
- |
1 |
7-21781662-A-T |
c.8032A>T |
p.S2678C |
Missense |
49/82 |
- |
1 |
7-21781662-A-C |
c.8032A>C |
p.S2678R |
Missense |
49/82 |
- |
1 |
7-21781665-G-T |
c.8035G>T |
p.G2679C |
Missense |
49/82 |
- |
4 |
7-21781667-C-T |
c.8037C>T |
p.G2679= |
Synonymous |
49/82 |
- |
1 |
7-21781668-C-T |
c.8038C>T |
p.P2680S |
Missense |
49/82 |
- |
1 |
7-21781669-C-T |
c.8039C>T |
p.P2680L |
Missense |
49/82 |
- |
4 |
7-21781680-C-G |
c.8050C>G |
p.Q2684E |
Missense |
49/82 |
- |
1 |
7-21781683-G-A |
c.8053G>A |
p.A2685T |
Missense |
49/82 |
- |
1 |
7-21781689-A-G |
c.8059A>G |
p.I2687V |
Missense |
49/82 |
- |
1 |
7-21781695-T-A |
c.8065T>A |
p.F2689I |
Missense |
49/82 |
- |
2 |
7-21781702-A-G |
c.8072A>G |
p.Q2691R |
Missense |
49/82 |
- |
1 |
7-21781703-G-C |
c.8073G>C |
p.Q2691H |
Missense |
49/82 |
- |
1 |
7-21781704-A-AC |
c.8075dup |
p.M2693Nfs*4 |
Frameshift |
49/82 |
- |
1 |
7-21781706-A-C |
c.8076A>C |
p.T2692= |
Synonymous |
49/82 |
- |
1 |
7-21781706-A-G |
c.8076A>G |
p.T2692= |
Synonymous |
49/82 |
- |
1 |
7-21781706-A-T |
c.8076A>T |
p.T2692= |
Synonymous |
49/82 |
- |
1 |
7-21781709-G-A |
c.8079G>A |
p.M2693I |
Missense |
49/82 |
- |
2 |
7-21781713-TG-AC |
c.8083_8084delinsAC |
p.C2695T |
Missense |
49/82 |
- |
1 |
7-21781714-G-A |
c.8084G>A |
p.C2695Y |
Missense |
49/82 |
- |
2 |
7-21781719-T-C |
c.8089T>C |
p.F2697L |
Missense |
49/82 |
- |
1 |
7-21781722-T-A |
c.8092T>A |
p.L2698I |
Missense |
49/82 |
- |
2 |
7-21781718-CT-C |
c.8093del |
p.L2698Yfs*13 |
Frameshift |
49/82 |
- |
1 |
7-21781723-T-C |
c.8093T>C |
p.L2698S |
Missense |
49/82 |
- |
2 |
7-21781725-C-A |
c.8095C>A |
p.P2699T |
Missense |
49/82 |
- |
1 |
7-21781725-C-T |
c.8095C>T |
p.P2699S |
Missense |
49/82 |
- |
1 |
7-21781730-G-A |
c.8100G>A |
p.T2700= |
Synonymous |
49/82 |
- |
1 |
7-21781730-G-T |
c.8100G>T |
p.T2700= |
Synonymous |
49/82 |
- |
1 |
7-21781740-T-G |
c.8110T>G |
p.F2704V |
Missense |
49/82 |
- |
1 |
7-21781744-A-G |
c.8114A>G |
p.H2705R |
Missense |
49/82 |
- |
3 |
7-21781748-C-A |
c.8118C>A |
p.Y2706* |
Nonsense |
49/82 |
- |
1 |
7-21781748-C-G |
c.8118C>G |
p.Y2706* |
Nonsense |
49/82 |
- |
1 |
7-21781755-A-T |
c.8125A>T |
p.N2709Y |
Missense |
49/82 |
- |
1 |
7-21781761-AGA-TGG |
c.8131_8133delinsTGG |
p.R2711W |
Missense |
49/82 |
- |
1 |
7-21781762-G-C |
c.8132G>C |
p.R2711T |
Missense |
49/82 |
- |
1 |
7-21781765-A-G |
c.8135A>G |
p.D2712G |
Missense |
49/82 |
- |
2 |
7-21781773-A-T |
c.8143A>T |
p.N2715Y |
Missense |
49/82 |
- |
1 |
7-21781775-C-T |
c.8145C>T |
p.N2715= |
Synonymous |
49/82 |
- |
2 |
7-21781777-T-C |
c.8147T>C |
p.V2716A |
Missense |
49/82 |
- |
1 |
7-21781778-C-A |
c.8148C>A |
p.V2716= |
Synonymous |
49/82 |
- |
2 |
7-21781778-C-G |
c.8148C>G |
p.V2716= |
Synonymous |
49/82 |
- |
2 |
7-21781778-C-T |
c.8148C>T |
p.V2716= |
Synonymous |
49/82 |
- |
2 |
7-21781807-T-C |
c.8154+23T>C |
- |
IntronicSNV |
- |
49/81 |
6 |
7-21781866-A-G |
c.8154+82A>G |
- |
IntronicSNV |
- |
49/81 |
1 |
7-21781866-A-T |
c.8154+82A>T |
- |
IntronicSNV |
- |
49/81 |
1 |
7-21782092-A-C |
c.8154+308A>C |
- |
IntronicSNV |
- |
49/81 |
1 |
7-21784037-C-T |
c.8155-19C>T |
- |
IntronicSNV |
- |
49/81 |
3 |
7-21784056-G-A |
c.8155G>A |
p.G2719R |
Missense |
50/82 |
- |
1 |
7-21784057-G-T |
c.8156G>T |
p.G2719V |
Missense |
50/82 |
- |
1 |
7-21784058-G-A |
c.8157G>A |
p.G2719= |
Synonymous |
50/82 |
- |
2 |
7-21784060-T-C |
c.8159T>C |
p.I2720T |
Missense |
50/82 |
- |
1 |
7-21784061-T-C |
c.8160T>C |
p.I2720= |
Synonymous |
50/82 |
- |
1 |
7-21784065-T-G |
c.8164T>G |
p.F2722V |
Missense |
50/82 |
- |
1 |
7-21784069-C-G |
c.8168C>G |
p.A2723G |
Missense |
50/82 |
- |
1 |
7-21784070-T-A |
c.8169T>A |
p.A2723= |
Synonymous |
50/82 |
- |
1 |
7-21784070-T-C |
c.8169T>C |
p.A2723= |
Synonymous |
50/82 |
- |
1 |
7-21784070-T-G |
c.8169T>G |
p.A2723= |
Synonymous |
50/82 |
- |
1 |
7-21784072-C-A |
c.8171C>A |
p.S2724Y |
Missense |
50/82 |
- |
1 |
7-21784074-C-T |
c.8173C>T |
p.P2725S |
Missense |
50/82 |
- |
3 |
7-21784075-C-A |
c.8174C>A |
p.P2725H |
Missense |
50/82 |
- |
1 |
7-21784079-G-A |
c.8178G>A |
p.E2726= |
Synonymous |
50/82 |
- |
1 |
7-21784085-A-C |
c.8184A>C |
p.L2728F |
Missense |
50/82 |
- |
3 |
7-21784085-A-T |
c.8184A>T |
p.L2728F |
Missense |
50/82 |
- |
1 |
7-21784086-A-G |
c.8185A>G |
p.K2729E |
Missense |
50/82 |
- |
1 |
7-21784089-G-T |
c.8188G>T |
p.G2730C |
Missense |
50/82 |
- |
3 |
7-21784093-C-A |
c.8192C>A |
p.P2731Q |
Missense |
50/82 |
- |
1 |
7-21784095-C-T |
c.8194C>T |
p.L2732F |
Missense |
50/82 |
- |
2 |
7-21784098-G-T |
c.8197G>T |
p.D2733Y |
Missense |
50/82 |
- |
1 |
7-21784101-T-C |
c.8200T>C |
p.L2734= |
Synonymous |
50/82 |
- |
1 |
7-21784108-A-T |
c.8207A>T |
p.H2736L |
Missense |
50/82 |
- |
1 |
7-21784116-C-G |
c.8215C>G |
p.L2739V |
Missense |
50/82 |
- |
1 |
7-21784117-T-G |
c.8216T>G |
p.L2739R |
Missense |
50/82 |
- |
1 |
7-21784119-C-T |
c.8218C>T |
p.H2740Y |
Missense |
50/82 |
- |
3 |
7-21784120-A-C |
c.8219A>C |
p.H2740P |
Missense |
50/82 |
- |
1 |
7-21784126-C-T |
c.8225C>T |
p.S2742F |
Missense |
50/82 |
- |
1 |
7-21784129-C-T |
c.8228C>T |
p.A2743V |
Missense |
50/82 |
- |
1 |
7-21784130-C-G |
c.8229C>G |
p.A2743= |
Synonymous |
50/82 |
- |
1 |
7-21784131-C-T |
c.8230C>T |
p.R2744C |
Missense |
50/82 |
- |
4 |
7-21784132-G-A |
c.8231G>A |
p.R2744H |
Missense |
50/82 |
- |
3 |
7-21784140-G-A |
c.8239G>A |
p.G2747R |
Missense |
50/82 |
- |
1 |
7-21784141-G-C |
c.8240G>C |
p.G2747A |
Missense |
50/82 |
- |
1 |
7-21784147-A-G |
c.8246A>G |
p.K2749R |
Missense |
50/82 |
- |
1 |
7-21784153-T-C |
c.8252T>C |
p.I2751T |
Missense |
50/82 |
- |
1 |
7-21784155-G-A |
c.8254G>A |
p.D2752N |
Missense |
50/82 |
- |
2 |
7-21784157-C-G |
c.8256C>G |
p.D2752E |
Missense |
50/82 |
- |
1 |
7-21784157-C-CA |
c.8262dup |
p.D2755Rfs*3 |
Frameshift |
50/82 |
- |
1 |
7-21784163-A-C |
c.8262A>C |
p.K2754N |
Missense |
50/82 |
- |
1 |
7-21784163-A-T |
c.8262A>T |
p.K2754N |
Missense |
50/82 |
- |
1 |
7-21784164-G-T |
c.8263G>T |
p.D2755Y |
Missense |
50/82 |
- |
5 |
7-21784166-T-A |
c.8265T>A |
p.D2755E |
Missense |
50/82 |
- |
1 |
7-21784166-T-G |
c.8265T>G |
p.D2755E |
Missense |
50/82 |
- |
1 |
7-21784167-T-C |
c.8266T>C |
p.C2756R |
Missense |
50/82 |
- |
4 |
7-21784170-G-C |
c.8269G>C |
p.D2757H |
Missense |
50/82 |
- |
1 |
7-21784170-G-T |
c.8269G>T |
p.D2757Y |
Missense |
50/82 |
- |
3 |
7-21784171-A-T |
c.8270A>T |
p.D2757V |
Missense |
50/82 |
- |
1 |
7-21784174-T-A |
c.8273T>A |
p.L2758* |
Nonsense |
50/82 |
- |
1 |
7-21784176-T-C |
c.8275T>C |
p.F2759L |
Missense |
50/82 |
- |
5 |
7-21784178-T-A |
c.8277T>A |
p.F2759L |
Missense |
50/82 |
- |
1 |
7-21784178-T-G |
c.8277T>G |
p.F2759L |
Missense |
50/82 |
- |
1 |
7-21784178-T-TA |
c.8277_8278insA |
p.Q2760Tfs*10 |
Frameshift |
50/82 |
- |
1 |
7-21784179-C-T |
c.8278C>T |
p.Q2760* |
Nonsense |
50/82 |
- |
1 |
7-21784180-A-G |
c.8279A>G |
p.Q2760R |
Missense |
50/82 |
- |
1 |
7-21784183-G-A |
c.8282G>A |
p.R2761K |
Missense |
50/82 |
- |
4 |
7-21784184-A-G |
c.8283A>G |
p.R2761= |
Synonymous |
50/82 |
- |
1 |
7-21784183-G-GA |
c.8284dup |
p.R2762Kfs*8 |
Frameshift |
50/82 |
- |
1 |
7-21784185-A-G |
c.8284A>G |
p.R2762G |
Missense |
50/82 |
- |
1 |
7-21784181-GAGA-G |
c.8285_8287del |
p.R2762del |
InFrameDeletion |
50/82 |
- |
1 |
7-21784186-G-A |
c.8285G>A |
p.R2762K |
Missense |
50/82 |
- |
3 |
7-21784198-C-A |
c.8297C>A |
p.T2766N |
Missense |
50/82 |
- |
1 |
7-21784200-G-A |
c.8299G>A |
p.A2767T |
Missense |
50/82 |
- |
1 |
7-21784204-A-G |
c.8303A>G |
p.Y2768C |
Missense |
50/82 |
- |
1 |
7-21784211-T-A |
c.8310T>A |
p.Y2770* |
Nonsense |
50/82 |
- |
1 |
7-21784211-T-G |
c.8310T>G |
p.Y2770* |
Nonsense |
50/82 |
- |
1 |
7-21784211-T-TG |
c.8310_8311insG |
p.F2771Vfs*2 |
Frameshift |
50/82 |
- |
2 |
7-21784217-A-G |
c.8316A>G |
p.E2772= |
Synonymous |
50/82 |
- |
1 |
7-21784217-A-T |
c.8316A>T |
p.E2772D |
Missense |
50/82 |
- |
2 |
7-21784432-A-C |
c.8317-56A>C |
- |
IntronicSNV |
- |
50/81 |
2 |
7-21784472-C-G |
c.8317-16C>G |
- |
IntronicSNV |
- |
50/81 |
2 |
7-21784489-G-A |
c.8318G>A |
p.G2773D |
Missense |
51/82 |
- |
1 |
7-21784493-A-C |
c.8322A>C |
p.I2774= |
Synonymous |
51/82 |
- |
1 |
7-21784493-A-T |
c.8322A>T |
p.I2774= |
Synonymous |
51/82 |
- |
1 |
7-21784494-G-A |
c.8323G>A |
p.D2775N |
Missense |
51/82 |
- |
1 |
7-21784496-T-A |
c.8325T>A |
p.D2775E |
Missense |
51/82 |
- |
1 |
7-21784496-T-G |
c.8325T>G |
p.D2775E |
Missense |
51/82 |
- |
1 |
7-21784498-G-T |
c.8327G>T |
p.S2776I |
Missense |
51/82 |
- |
1 |
7-21784504-T-A |
c.8333T>A |
p.M2778K |
Missense |
51/82 |
- |
1 |
7-21784504-T-G |
c.8333T>G |
p.M2778R |
Missense |
51/82 |
- |
1 |
7-21784505-G-A |
c.8334G>A |
p.M2778I |
Missense |
51/82 |
- |
2 |
7-21784507-T-C |
c.8336T>C |
p.L2779P |
Missense |
51/82 |
- |
1 |
7-21784506-C-T |
c.8335C>T |
p.L2779= |
Synonymous |
51/82 |
- |
3 |
7-21784508-G-A |
c.8337G>A |
p.L2779= |
Synonymous |
51/82 |
- |
3 |
7-21784508-G-C |
c.8337G>C |
p.L2779= |
Synonymous |
51/82 |
- |
3 |
7-21784508-G-T |
c.8337G>T |
p.L2779= |
Synonymous |
51/82 |
- |
3 |
7-21784510-T-C |
c.8339T>C |
p.L2780P |
Missense |
51/82 |
- |
1 |
7-21784512-C-T |
c.8341C>T |
p.Q2781* |
Nonsense |
51/82 |
- |
2 |
7-21784514-A-C |
c.8343A>C |
p.Q2781H |
Missense |
51/82 |
- |
1 |
7-21784524-A-G |
c.8353A>G |
p.I2785V |
Missense |
51/82 |
- |
2 |
7-21784530-T-A |
c.8359T>A |
p.C2787S |
Missense |
51/82 |
- |
1 |
7-21784532-C-A |
c.8361C>A |
p.C2787* |
Nonsense |
51/82 |
- |
1 |
7-21784532-C-T |
c.8361C>T |
p.C2787= |
Synonymous |
51/82 |
- |
1 |
7-21784533-C-G |
c.8362C>G |
p.H2788D |
Missense |
51/82 |
- |
4 |
7-21784542-G-A |
c.8371G>A |
p.D2791N |
Missense |
51/82 |
- |
1 |
7-21784557-C-T |
c.8386C>T |
p.P2796S |
Missense |
51/82 |
- |
4 |
7-21784563-T-A |
c.8392T>A |
p.Y2798N |
Missense |
51/82 |
- |
1 |
7-21784566-A-G |
c.8395A>G |
p.M2799V |
Missense |
51/82 |
- |
1 |
7-21784569-C-T |
c.8398C>T |
p.P2800S |
Missense |
51/82 |
- |
1 |
7-21784570-C-T |
c.8399C>T |
p.P2800L |
Missense |
51/82 |
- |
1 |
7-21784589-G-A |
c.8418G>A |
p.V2806= |
Synonymous |
51/82 |
- |
1 |
7-21784597-C-T |
c.8426C>T |
p.T2809M |
Missense |
51/82 |
- |
1 |
7-21784598-G-A |
c.8427G>A |
p.T2809= |
Synonymous |
51/82 |
- |
2 |
7-21784598-G-C |
c.8427G>C |
p.T2809= |
Synonymous |
51/82 |
- |
1 |
7-21784599-A-G |
c.8428A>G |
p.I2810V |
Missense |
51/82 |
- |
1 |
7-21784602-C-T |
c.8431C>T |
p.L2811F |
Missense |
51/82 |
- |
1 |
7-21784605-A-G |
c.8434A>G |
p.T2812A |
Missense |
51/82 |
- |
2 |
7-21784611-A-G |
c.8440A>G |
p.T2814A |
Missense |
51/82 |
- |
3 |
7-21784612-C-T |
c.8441C>T |
p.T2814M |
Missense |
51/82 |
- |
3 |
7-21784614-T-G |
c.8443T>G |
p.L2815V |
Missense |
51/82 |
- |
1 |
7-21784618-A-T |
c.8447A>T |
p.D2816V |
Missense |
51/82 |
- |
1 |
7-21784624-A-G |
c.8453A>G |
p.Y2818C |
Missense |
51/82 |
- |
1 |
7-21784627-A-G |
c.8456A>G |
p.N2819S |
Missense |
51/82 |
- |
3 |
7-21784629-G-A |
c.8458G>A |
p.E2820K |
Missense |
51/82 |
- |
1 |
7-21784630-A-G |
c.8459A>G |
p.E2820G |
Missense |
51/82 |
- |
1 |
7-21784631-A-C |
c.8460A>C |
p.E2820D |
Missense |
51/82 |
- |
1 |
7-21784631-A-T |
c.8460A>T |
p.E2820D |
Missense |
51/82 |
- |
1 |
7-21784644-A-G |
c.8473A>G |
p.M2825V |
Missense |
51/82 |
- |
1 |
7-21784647-C-T |
c.8476C>T |
p.H2826Y |
Missense |
51/82 |
- |
1 |
7-21784649-C-T |
c.8478C>T |
p.H2826= |
Synonymous |
51/82 |
- |
2 |
7-21784653-G-C |
c.8482G>C |
p.V2828L |
Missense |
51/82 |
- |
1 |
7-21784668-G-A |
c.8497G>A |
p.A2833T |
Missense |
51/82 |
- |
2 |
7-21784668-G-T |
c.8497G>T |
p.A2833S |
Missense |
51/82 |
- |
1 |
7-21784669-C-T |
c.8498C>T |
p.A2833V |
Missense |
51/82 |
- |
3 |
7-21784673-G-A |
c.8502G>A |
p.M2834I |
Missense |
51/82 |
- |
1 |
7-21784673-G-C |
c.8502G>C |
p.M2834I |
Missense |
51/82 |
- |
1 |
7-21784673-G-T |
c.8502G>T |
p.M2834I |
Missense |
51/82 |
- |
2 |
7-21784676-A-G |
c.8505A>G |
p.Q2835= |
Synonymous |
51/82 |
- |
1 |
7-21784677-C-A |
c.8506C>A |
p.H2836N |
Missense |
51/82 |
- |
1 |
7-21784678-A-G |
c.8507A>G |
p.H2836R |
Missense |
51/82 |
- |
1 |
7-21784687-T-G |
c.8510+6T>G |
- |
IntronicSNV |
- |
51/81 |
1 |
7-21788202-CGC-TGG |
c.8515_8517delinsTGG |
p.R2839W |
Missense |
52/82 |
- |
1 |
7-21788202-C-T |
c.8515C>T |
p.R2839C |
Missense |
52/82 |
- |
3 |
7-21788208-A-G |
c.8521A>G |
p.S2841G |
Missense |
52/82 |
- |
2 |
7-21788208-A-T |
c.8521A>T |
p.S2841C |
Missense |
52/82 |
- |
1 |
7-21788210-C-T |
c.8523C>T |
p.S2841= |
Synonymous |
52/82 |
- |
2 |
7-21788212-G-A |
c.8525G>A |
p.R2842Q |
Missense |
52/82 |
- |
3 |
7-21788220-C-G |
c.8533C>G |
p.R2845G |
Missense |
52/82 |
- |
4 |
7-21788220-C-T |
c.8533C>T |
p.R2845* |
Nonsense |
52/82 |
- |
4 |
7-21788221-G-A |
c.8534G>A |
p.R2845Q |
Missense |
52/82 |
- |
6 |
7-21788230-A-T |
c.8543A>T |
p.Q2848L |
Missense |
52/82 |
- |
2 |
7-21788231-G-A |
c.8544G>A |
p.Q2848= |
Synonymous |
52/82 |
- |
1 |
7-21788231-G-C |
c.8544G>C |
p.Q2848H |
Missense |
52/82 |
- |
1 |
7-21788231-G-T |
c.8544G>T |
p.Q2848H |
Missense |
52/82 |
- |
1 |
7-21788234-C-A |
c.8547C>A |
p.G2849= |
Synonymous |
52/82 |
- |
1 |
7-21788234-C-G |
c.8547C>G |
p.G2849= |
Synonymous |
52/82 |
- |
1 |
7-21788234-C-T |
c.8547C>T |
p.G2849= |
Synonymous |
52/82 |
- |
1 |
7-21788235-T-C |
c.8548T>C |
p.C2850R |
Missense |
52/82 |
- |
1 |
7-21788236-G-A |
c.8549G>A |
p.C2850Y |
Missense |
52/82 |
- |
1 |
7-21788238-G-A |
c.8551G>A |
p.A2851T |
Missense |
52/82 |
- |
2 |
7-21788238-G-C |
c.8551G>C |
p.A2851P |
Missense |
52/82 |
- |
1 |
7-21788239-C-T |
c.8552C>T |
p.A2851V |
Missense |
52/82 |
- |
1 |
7-21788241-C-T |
c.8554C>T |
p.L2852F |
Missense |
52/82 |
- |
3 |
7-21788242-T-C |
c.8555T>C |
p.L2852P |
Missense |
52/82 |
- |
1 |
7-21788243-C-A |
c.8556C>A |
p.L2852= |
Synonymous |
52/82 |
- |
1 |
7-21788243-C-G |
c.8556C>G |
p.L2852= |
Synonymous |
52/82 |
- |
1 |
7-21788243-C-T |
c.8556C>T |
p.L2852= |
Synonymous |
52/82 |
- |
2 |
7-21788246-G-T |
c.8559G>T |
p.L2853F |
Missense |
52/82 |
- |
2 |
7-21788247-G-C |
c.8560G>C |
p.V2854L |
Missense |
52/82 |
- |
1 |
7-21788248-T-C |
c.8561T>C |
p.V2854A |
Missense |
52/82 |
- |
1 |
7-21788248-T-G |
c.8561T>G |
p.V2854G |
Missense |
52/82 |
- |
1 |
7-21788251-G-T |
c.8564G>T |
p.G2855V |
Missense |
52/82 |
- |
1 |
7-21788254-T-C |
c.8567T>C |
p.V2856A |
Missense |
52/82 |
- |
1 |
7-21788256-G-A |
c.8569G>A |
p.G2857R |
Missense |
52/82 |
- |
1 |
7-21788256-G-C |
c.8569G>C |
p.G2857R |
Missense |
52/82 |
- |
1 |
7-21788257-G-A |
c.8570G>A |
p.G2857E |
Missense |
52/82 |
- |
2 |
7-21788257-G-C |
c.8570G>C |
p.G2857A |
Missense |
52/82 |
- |
2 |
7-21788259-G-A |
c.8572G>A |
p.G2858S |
Missense |
52/82 |
- |
2 |
7-21788260-G-A |
c.8573G>A |
p.G2858D |
Missense |
52/82 |
- |
2 |
7-21788261-C-A |
c.8574C>A |
p.G2858= |
Synonymous |
52/82 |
- |
1 |
7-21788261-C-G |
c.8574C>G |
p.G2858= |
Synonymous |
52/82 |
- |
1 |
7-21788261-C-T |
c.8574C>T |
p.G2858= |
Synonymous |
52/82 |
- |
1 |
7-21788262-AG-CT |
c.8575_8576inv |
p.S2859L |
Missense |
52/82 |
- |
1 |
7-21788263-G-T |
c.8576G>T |
p.S2859I |
Missense |
52/82 |
- |
1 |
7-21788264-T-C |
c.8577T>C |
p.S2859= |
Synonymous |
52/82 |
- |
2 |
7-21788265-G-T |
c.8578G>T |
p.G2860C |
Missense |
52/82 |
- |
1 |
7-21788275-G-T |
c.8588G>T |
p.S2863I |
Missense |
52/82 |
- |
1 |
7-21788276-C-G |
c.8589C>G |
p.S2863R |
Missense |
52/82 |
- |
3 |
7-21788281-C-A |
c.8594C>A |
p.S2865Y |
Missense |
52/82 |
- |
2 |
7-21788282-C-T |
c.8595C>T |
p.S2865= |
Synonymous |
52/82 |
- |
1 |
7-21788284-G-C |
c.8597G>C |
p.R2866T |
Missense |
52/82 |
- |
1 |
7-21788289-G-T |
c.8602G>T |
p.A2868S |
Missense |
52/82 |
- |
1 |
7-21788290-C-A |
c.8603C>A |
p.A2868E |
Missense |
52/82 |
- |
1 |
7-21788297-C-G |
c.8610C>G |
p.Y2870* |
Nonsense |
52/82 |
- |
1 |
7-21788297-C-T |
c.8610C>T |
p.Y2870= |
Synonymous |
52/82 |
- |
1 |
7-21788298-C-G |
c.8611C>G |
p.L2871V |
Missense |
52/82 |
- |
1 |
7-21788299-T-G |
c.8612T>G |
p.L2871R |
Missense |
52/82 |
- |
1 |
7-21788302-G-A |
c.8615G>A |
p.R2872H |
Missense |
52/82 |
- |
2 |
7-21788305-G-A |
c.8618G>A |
p.G2873D |
Missense |
52/82 |
- |
1 |
7-21788314-T-C |
c.8627T>C |
p.V2876A |
Missense |
52/82 |
- |
1 |
7-21788314-T-G |
c.8627T>G |
p.V2876G |
Missense |
52/82 |
- |
1 |
7-21788315-C-A |
c.8628C>A |
p.V2876= |
Synonymous |
52/82 |
- |
1 |
7-21788315-C-G |
c.8628C>G |
p.V2876= |
Synonymous |
52/82 |
- |
1 |
7-21788315-C-T |
c.8628C>T |
p.V2876= |
Synonymous |
52/82 |
- |
1 |
7-21788316-T-G |
c.8629T>G |
p.F2877V |
Missense |
52/82 |
- |
1 |
7-21788319-C-T |
c.8632C>T |
p.Q2878* |
Nonsense |
52/82 |
- |
2 |
7-21788324-C-T |
c.8637C>T |
p.I2879= |
Synonymous |
52/82 |
- |
1 |
7-21788328-C-T |
c.8641C>T |
p.L2881= |
Synonymous |
52/82 |
- |
2 |
7-21788330-G-A |
c.8643G>A |
p.L2881= |
Synonymous |
52/82 |
- |
2 |
7-21788330-G-C |
c.8643G>C |
p.L2881= |
Synonymous |
52/82 |
- |
2 |
7-21788330-G-T |
c.8643G>T |
p.L2881= |
Synonymous |
52/82 |
- |
2 |
7-21788332-C-T |
c.8645C>T |
p.T2882I |
Missense |
52/82 |
- |
1 |
7-21788333-C-A |
c.8646C>A |
p.T2882= |
Synonymous |
52/82 |
- |
1 |
7-21788334-G-T |
c.8647G>T |
p.E2883* |
Nonsense |
52/82 |
- |
2 |
7-21788341-A-G |
c.8654A>G |
p.Y2885C |
Missense |
52/82 |
- |
1 |
7-21788344-G-A |
c.8657G>A |
p.G2886E |
Missense |
52/82 |
- |
3 |
7-21788345-A-G |
c.8658A>G |
p.G2886= |
Synonymous |
52/82 |
- |
1 |
7-21788347-T-G |
c.8660T>G |
p.I2887S |
Missense |
52/82 |
- |
1 |
7-21788349-C-T |
c.8662C>T |
p.Q2888* |
Nonsense |
52/82 |
- |
4 |
7-21788350-A-C |
c.8663A>C |
p.Q2888P |
Missense |
52/82 |
- |
1 |
7-21788352-G-A |
c.8665G>A |
p.E2889K |
Missense |
52/82 |
- |
1 |
7-21788356-T-G |
c.8669T>G |
p.L2890R |
Missense |
52/82 |
- |
1 |
7-21788358-C-T |
c.8671C>T |
p.R2891W |
Missense |
52/82 |
- |
5 |
7-21788359-G-T |
c.8672G>T |
p.R2891L |
Missense |
52/82 |
- |
2 |
7-21789069-A-G |
c.8674-227A>G |
- |
IntronicSNV |
- |
52/81 |
1 |
7-21789300-A-T |
c.8678A>T |
p.D2893V |
Missense |
53/82 |
- |
1 |
7-21789308-A-G |
c.8686A>G |
p.N2896D |
Missense |
53/82 |
- |
1 |
7-21789311-TT-AG |
c.8689_8690delinsAG |
p.L2897R |
Missense |
53/82 |
- |
1 |
7-21789311-TTG-CAT |
c.8689_8691delinsCAT |
p.L2897H |
Missense |
53/82 |
- |
1 |
7-21789312-T-A |
c.8690T>A |
p.L2897* |
Nonsense |
53/82 |
- |
1 |
7-21789317-A-T |
c.8695A>T |
p.I2899F |
Missense |
53/82 |
- |
1 |
7-21789319-C-T |
c.8697C>T |
p.I2899= |
Synonymous |
53/82 |
- |
1 |
7-21789320-C-G |
c.8698C>G |
p.R2900G |
Missense |
53/82 |
- |
3 |
7-21789320-C-T |
c.8698C>T |
p.R2900* |
Nonsense |
53/82 |
- |
8 |
7-21789321-G-A |
c.8699G>A |
p.R2900Q |
Missense |
53/82 |
- |
4 |
7-21789323-A-G |
c.8701A>G |
p.T2901A |
Missense |
53/82 |
- |
1 |
7-21789327-G-C |
c.8705G>C |
p.G2902A |
Missense |
53/82 |
- |
1 |
7-21789329-G-A |
c.8707G>A |
p.A2903T |
Missense |
53/82 |
- |
1 |
7-21789330-C-A |
c.8708C>A |
p.A2903D |
Missense |
53/82 |
- |
1 |
7-21789334-G-C |
c.8712G>C |
p.K2904N |
Missense |
53/82 |
- |
2 |
7-21789334-G-T |
c.8712G>T |
p.K2904N |
Missense |
53/82 |
- |
1 |
7-21789341-C-T |
c.8719C>T |
p.P2907S |
Missense |
53/82 |
- |
5 |
7-21789344-A-G |
c.8722A>G |
p.T2908A |
Missense |
53/82 |
- |
1 |
7-21789345-C-T |
c.8723C>T |
p.T2908I |
Missense |
53/82 |
- |
3 |
7-21789347-G-C |
c.8725G>C |
p.V2909L |
Missense |
53/82 |
- |
1 |
7-21789347-G-T |
c.8725G>T |
p.V2909L |
Missense |
53/82 |
- |
1 |
7-21789352-C-T |
c.8730C>T |
p.F2910= |
Synonymous |
53/82 |
- |
1 |
7-21789366-C-T |
c.8744C>T |
p.A2915V |
Missense |
53/82 |
- |
1 |
7-21789367-C-A |
c.8745C>A |
p.A2915= |
Synonymous |
53/82 |
- |
1 |
7-21789367-C-G |
c.8745C>G |
p.A2915= |
Synonymous |
53/82 |
- |
1 |
7-21789367-C-T |
c.8745C>T |
p.A2915= |
Synonymous |
53/82 |
- |
1 |
7-21789365-GC-G |
c.8746del |
p.Q2916Rfs*3 |
Frameshift |
53/82 |
- |
1 |
7-21789368-C-T |
c.8746C>T |
p.Q2916* |
Nonsense |
53/82 |
- |
1 |
7-21789371-G-T |
c.8749G>T |
p.V2917F |
Missense |
53/82 |
- |
1 |
7-21789372-T-C |
c.8750T>C |
p.V2917A |
Missense |
53/82 |
- |
1 |
7-21789377-G-A |
c.8755G>A |
p.D2919N |
Missense |
53/82 |
- |
2 |
7-21789379-T-A |
c.8757T>A |
p.D2919E |
Missense |
53/82 |
- |
2 |
7-21789380-G-A |
c.8758G>A |
p.E2920K |
Missense |
53/82 |
- |
1 |
7-21789384-G-A |
c.8762G>A |
p.S2921N |
Missense |
53/82 |
- |
1 |
7-21789388-C-T |
c.8766C>T |
p.F2922= |
Synonymous |
53/82 |
- |
2 |
7-21789392-G-A |
c.8770G>A |
p.V2924M |
Missense |
53/82 |
- |
1 |
7-21789392-G-C |
c.8770G>C |
p.V2924L |
Missense |
53/82 |
- |
1 |
7-21789392-GTG-TTT |
c.8770_8772delinsTTT |
p.V2924F |
Missense |
53/82 |
- |
1 |
7-21789395-C-A |
c.8773C>A |
p.L2925M |
Missense |
53/82 |
- |
1 |
7-21789396-T-C |
c.8774T>C |
p.L2925P |
Missense |
53/82 |
- |
1 |
7-21789395-C-T |
c.8773C>T |
p.L2925= |
Synonymous |
53/82 |
- |
1 |
7-21789397-G-A |
c.8775G>A |
p.L2925= |
Synonymous |
53/82 |
- |
1 |
7-21789397-G-C |
c.8775G>C |
p.L2925= |
Synonymous |
53/82 |
- |
1 |
7-21789397-G-T |
c.8775G>T |
p.L2925= |
Synonymous |
53/82 |
- |
1 |
7-21789399-T-C |
c.8777T>C |
p.I2926T |
Missense |
53/82 |
- |
1 |
7-21789400-T-G |
c.8778T>G |
p.I2926M |
Missense |
53/82 |
- |
2 |
7-21789402-A-G |
c.8780A>G |
p.N2927S |
Missense |
53/82 |
- |
1 |
7-21789404-G-A |
c.8782G>A |
p.D2928N |
Missense |
53/82 |
- |
2 |
7-21789404-G-T |
c.8782G>T |
p.D2928Y |
Missense |
53/82 |
- |
1 |
7-21789412-G-T |
c.8790G>T |
p.L2930= |
Synonymous |
53/82 |
- |
1 |
7-21789442-T-C |
c.8797+23T>C |
- |
IntronicSNV |
- |
53/81 |
6 |
7-21789442-T-G |
c.8797+23T>G |
- |
IntronicSNV |
- |
53/81 |
4 |
7-21789835-G-A |
c.8798-5G>A |
- |
IntronicSNV |
- |
53/81 |
1 |
7-21789835-G-T |
c.8798-5G>T |
- |
IntronicSNV |
- |
53/81 |
1 |
7-21789848-C-G |
c.8806C>G |
p.P2936A |
Missense |
54/82 |
- |
3 |
7-21789848-C-T |
c.8806C>T |
p.P2936S |
Missense |
54/82 |
- |
2 |
7-21789851-G-T |
c.8809G>T |
p.D2937Y |
Missense |
54/82 |
- |
2 |
7-21789857-T-C |
c.8815T>C |
p.F2939L |
Missense |
54/82 |
- |
1 |
7-21789859-C-A |
c.8817C>A |
p.F2939L |
Missense |
54/82 |
- |
1 |
7-21789859-C-G |
c.8817C>G |
p.F2939L |
Missense |
54/82 |
- |
2 |
7-21789860-A-G |
c.8818A>G |
p.S2940G |
Missense |
54/82 |
- |
1 |
7-21789863-G-T |
c.8821G>T |
p.D2941Y |
Missense |
54/82 |
- |
1 |
7-21789869-G-A |
c.8827G>A |
p.D2943N |
Missense |
54/82 |
- |
1 |
7-21789874-G-A |
c.8832G>A |
p.V2944= |
Synonymous |
54/82 |
- |
1 |
7-21789874-G-C |
c.8832G>C |
p.V2944= |
Synonymous |
54/82 |
- |
1 |
7-21789874-G-T |
c.8832G>T |
p.V2944= |
Synonymous |
54/82 |
- |
1 |
7-21789877-C-A |
c.8835C>A |
p.D2945E |
Missense |
54/82 |
- |
1 |
7-21789880-G-A |
c.8838G>A |
p.K2946= |
Synonymous |
54/82 |
- |
1 |
7-21789891-G-T |
c.8849G>T |
p.G2950V |
Missense |
54/82 |
- |
1 |
7-21789896-C-T |
c.8854C>T |
p.H2952Y |
Missense |
54/82 |
- |
2 |
7-21789902-G-A |
c.8860G>A |
p.E2954K |
Missense |
54/82 |
- |
1 |
7-21789906-T-C |
c.8864T>C |
p.V2955A |
Missense |
54/82 |
- |
1 |
7-21789908-C-T |
c.8866C>T |
p.H2956Y |
Missense |
54/82 |
- |
3 |
7-21789916-G-A |
c.8874G>A |
p.L2958= |
Synonymous |
54/82 |
- |
1 |
7-21789916-G-T |
c.8874G>T |
p.L2958= |
Synonymous |
54/82 |
- |
1 |
7-21789921-T-C |
c.8879T>C |
p.M2960T |
Missense |
54/82 |
- |
1 |
7-21789926-G-A |
c.8884G>A |
p.D2962N |
Missense |
54/82 |
- |
1 |
7-21789926-G-C |
c.8884G>C |
p.D2962H |
Missense |
54/82 |
- |
2 |
7-21789930-C-A |
c.8888C>A |
p.S2963Y |
Missense |
54/82 |
- |
5 |
7-21789930-C-G |
c.8888C>G |
p.S2963C |
Missense |
54/82 |
- |
1 |
7-21789935-G-A |
c.8893G>A |
p.E2965K |
Missense |
54/82 |
- |
6 |
7-21789945-G-A |
c.8903G>A |
p.W2968* |
Nonsense |
54/82 |
- |
3 |
7-21789952-C-A |
c.8910C>A |
p.F2970L |
Missense |
54/82 |
- |
1 |
7-21789952-C-G |
c.8910C>G |
p.F2970L |
Missense |
54/82 |
- |
1 |
7-21789952-C-T |
c.8910C>T |
p.F2970= |
Synonymous |
54/82 |
- |
2 |
7-21789958-G-A |
c.8916G>A |
p.M2972I |
Missense |
54/82 |
- |
1 |
7-21789958-G-C |
c.8916G>C |
p.M2972I |
Missense |
54/82 |
- |
1 |
7-21789958-G-T |
c.8916G>T |
p.M2972I |
Missense |
54/82 |
- |
1 |
7-21789960-C-T |
c.8918C>T |
p.A2973V |
Missense |
54/82 |
- |
4 |
7-21789962-A-C |
c.8920A>C |
p.R2974= |
Synonymous |
54/82 |
- |
1 |
7-21789964-G-A |
c.8922G>A |
p.R2974= |
Synonymous |
54/82 |
- |
2 |
7-21789968-C-T |
c.8926C>T |
p.R2976* |
Nonsense |
54/82 |
- |
2 |
7-21789969-G-A |
c.8927G>A |
p.R2976Q |
Missense |
54/82 |
- |
3 |
7-21789974-C-A |
c.8932C>A |
p.Q2978K |
Missense |
54/82 |
- |
1 |
7-21789981-A-G |
c.8939A>G |
p.K2980R |
Missense |
54/82 |
- |
1 |
7-21789992-A-C |
c.8940+10A>C |
- |
IntronicSNV |
- |
54/81 |
1 |
7-21789992-A-G |
c.8940+10A>G |
- |
IntronicSNV |
- |
54/81 |
1 |
7-21790076-C-T |
c.8940+94C>T |
- |
IntronicSNV |
- |
54/81 |
1 |
7-21799921-G-A |
c.8941-5125G>A |
- |
IntronicSNV |
- |
54/81 |
1 |
7-21801878-A-G |
c.8941-3168A>G |
- |
IntronicSNV |
- |
54/81 |
1 |
7-21804852-G-A |
c.8941-194G>A |
- |
IntronicSNV |
- |
54/81 |
1 |
7-21804852-G-T |
c.8941-194G>T |
- |
IntronicSNV |
- |
54/81 |
1 |
7-21805062-C-G |
c.8957C>G |
p.S2986C |
Missense |
55/82 |
- |
1 |
7-21805064-C-T |
c.8959C>T |
p.P2987S |
Missense |
55/82 |
- |
3 |
7-21805067-G-C |
c.8962G>C |
p.V2988L |
Missense |
55/82 |
- |
1 |
7-21805070-G-A |
c.8965G>A |
p.G2989S |
Missense |
55/82 |
- |
1 |
7-21805073-C-A |
c.8968C>A |
p.R2990S |
Missense |
55/82 |
- |
1 |
7-21805073-C-T |
c.8968C>T |
p.R2990C |
Missense |
55/82 |
- |
1 |
7-21805074-G-A |
c.8969G>A |
p.R2990H |
Missense |
55/82 |
- |
4 |
7-21805074-G-T |
c.8969G>T |
p.R2990L |
Missense |
55/82 |
- |
1 |
7-21805077-C-A |
c.8972C>A |
p.T2991K |
Missense |
55/82 |
- |
1 |
7-21805077-C-T |
c.8972C>T |
p.T2991M |
Missense |
55/82 |
- |
1 |
7-21805078-G-A |
c.8973G>A |
p.T2991= |
Synonymous |
55/82 |
- |
1 |
7-21805078-G-C |
c.8973G>C |
p.T2991= |
Synonymous |
55/82 |
- |
1 |
7-21805078-G-T |
c.8973G>T |
p.T2991= |
Synonymous |
55/82 |
- |
1 |
7-21805082-AG-CT |
c.8977_8978inv |
p.R2993L |
Missense |
55/82 |
- |
1 |
7-21805083-G-A |
c.8978G>A |
p.R2993K |
Missense |
55/82 |
- |
2 |
7-21805094-C-T |
c.8989C>T |
p.R2997W |
Missense |
55/82 |
- |
2 |
7-21805095-G-A |
c.8990G>A |
p.R2997Q |
Missense |
55/82 |
- |
16 |
7-21805095-G-C |
c.8990G>C |
p.R2997P |
Missense |
55/82 |
- |
4 |
7-21805099-G-A |
c.8994G>A |
p.K2998= |
Synonymous |
55/82 |
- |
1 |
7-21805099-G-C |
c.8994G>C |
p.K2998N |
Missense |
55/82 |
- |
1 |
7-21805102-C-T |
c.8997C>T |
p.F2999= |
Synonymous |
55/82 |
- |
1 |
7-21805118-T-C |
c.9013T>C |
p.C3005R |
Missense |
55/82 |
- |
1 |
7-21805120-C-G |
c.9015C>G |
p.C3005W |
Missense |
55/82 |
- |
1 |
7-21805122-C-T |
c.9017C>T |
p.T3006M |
Missense |
55/82 |
- |
6 |
7-21805123-G-A |
c.9018G>A |
p.T3006= |
Synonymous |
55/82 |
- |
1 |
7-21805124-G-A |
c.9019G>A |
p.A3007T |
Missense |
55/82 |
- |
2 |
7-21805127-A-G |
c.9022A>G |
p.I3008V |
Missense |
55/82 |
- |
1 |
7-21805130-G-T |
c.9025G>T |
p.D3009Y |
Missense |
55/82 |
- |
1 |
7-21805134-G-T |
c.9029G>T |
p.W3010L |
Missense |
55/82 |
- |
1 |
7-21805140-A-G |
c.9035A>G |
p.H3012R |
Missense |
55/82 |
- |
1 |
7-21805142-G-A |
c.9037G>A |
p.A3013T |
Missense |
55/82 |
- |
3 |
7-21805143-C-A |
c.9038C>A |
p.A3013E |
Missense |
55/82 |
- |
1 |
7-21805143-C-T |
c.9038C>T |
p.A3013V |
Missense |
55/82 |
- |
5 |
7-21805148-C-T |
c.9043C>T |
p.P3015S |
Missense |
55/82 |
- |
5 |
7-21805150-G-A |
c.9045G>A |
p.P3015= |
Synonymous |
55/82 |
- |
3 |
7-21805150-G-C |
c.9045G>C |
p.P3015= |
Synonymous |
55/82 |
- |
2 |
7-21805150-G-T |
c.9045G>T |
p.P3015= |
Synonymous |
55/82 |
- |
2 |
7-21805156-G-C |
c.9051G>C |
p.E3017D |
Missense |
55/82 |
- |
4 |
7-21805156-G-T |
c.9051G>T |
p.E3017D |
Missense |
55/82 |
- |
4 |
7-21805157-G-A |
c.9052G>A |
p.A3018T |
Missense |
55/82 |
- |
1 |
7-21805160-C-A |
c.9055C>A |
p.L3019M |
Missense |
55/82 |
- |
1 |
7-21805160-CTG-TTT |
c.9055_9057delinsTTT |
p.L3019F |
Missense |
55/82 |
- |
1 |
7-21805168-C-A |
c.9063C>A |
p.S3021= |
Synonymous |
55/82 |
- |
1 |
7-21805168-C-G |
c.9063C>G |
p.S3021= |
Synonymous |
55/82 |
- |
1 |
7-21805168-C-T |
c.9063C>T |
p.S3021= |
Synonymous |
55/82 |
- |
1 |
7-21805173-G-A |
c.9068G>A |
p.S3023N |
Missense |
55/82 |
- |
3 |
7-21805177-G-A |
c.9072G>A |
p.R3024= |
Synonymous |
55/82 |
- |
2 |
7-21805179-G-A |
c.9074G>A |
p.R3025K |
Missense |
55/82 |
- |
2 |
7-21805182-T-A |
c.9077T>A |
p.F3026Y |
Missense |
55/82 |
- |
2 |
7-21805184-A-C |
c.9079A>C |
p.I3027L |
Missense |
55/82 |
- |
2 |
7-21805188-A-G |
c.9083A>G |
p.E3028G |
Missense |
55/82 |
- |
1 |
7-21805189-G-A |
c.9084G>A |
p.E3028= |
Synonymous |
55/82 |
- |
1 |
7-21805192-A-C |
c.9087A>C |
p.E3029D |
Missense |
55/82 |
- |
1 |
7-21805194-C-A |
c.9089C>A |
p.T3030N |
Missense |
55/82 |
- |
1 |
7-21805200-G-A |
c.9095G>A |
p.G3032E |
Missense |
55/82 |
- |
1 |
7-21805202-A-C |
c.9097A>C |
p.I3033L |
Missense |
55/82 |
- |
1 |
7-21805202-A-G |
c.9097A>G |
p.I3033V |
Missense |
55/82 |
- |
5 |
7-21805203-T-C |
c.9098T>C |
p.I3033T |
Missense |
55/82 |
- |
4 |
7-21805205-G-A |
c.9100G>A |
p.E3034K |
Missense |
55/82 |
- |
3 |
7-21805215-G-A |
c.9102+8G>A |
- |
IntronicSNV |
- |
55/81 |
2 |
7-21805227-G-A |
c.9102+20G>A |
- |
IntronicSNV |
- |
55/81 |
3 |
7-21805227-G-T |
c.9102+20G>T |
- |
IntronicSNV |
- |
55/81 |
1 |
7-21805228-T-TCAGA |
c.9102+23_9102+24insGACA |
- |
IntronicInsertion |
- |
55/81 |
1 |
7-21805228-T-TCAGACA |
c.9102+23_9102+24insGACACA |
- |
IntronicInsertion |
- |
55/81 |
1 |
7-21805228-T-TCAGACACA |
c.9102+23_9102+24insGACACACA |
- |
IntronicInsertion |
- |
55/81 |
1 |
7-21805228-T-TCAGACACACA |
c.9102+23_9102+24insGACACACACA |
- |
IntronicInsertion |
- |
55/81 |
1 |
7-21805228-T-TCAGACACACACA |
c.9102+23_9102+24insGACACACACACA |
- |
IntronicInsertion |
- |
55/81 |
1 |
7-21805228-T-TCAGACACACACACA |
c.9102+23_9102+24insGACACACACACACA |
- |
IntronicInsertion |
- |
55/81 |
1 |
7-21805228-T-TCAGACACACACACACA |
c.9102+23_9102+24insGACACACACACACACA |
- |
IntronicInsertion |
- |
55/81 |
1 |
7-21805228-T-TCAGACACACACACACACA |
c.9102+23_9102+24insGACACACACACACACACA |
- |
IntronicInsertion |
- |
55/81 |
1 |
7-21805229-C-CAG |
c.9102+23_9102+24insGA |
- |
IntronicInsertion |
- |
55/81 |
1 |
7-21805238-A-AAC |
c.9102+31_9102+32insAC |
- |
IntronicInsertion |
- |
55/81 |
1 |
7-21805228-TCACACACACACACACACA-T |
c.9102+53_9102+70del |
- |
IntronicDeletion |
- |
55/81 |
2 |
7-21805228-TCACACACACACA-T |
c.9102+59_9102+70del |
- |
IntronicDeletion |
- |
55/81 |
2 |
7-21805228-TCACA-T |
c.9102+67_9102+70del |
- |
IntronicDeletion |
- |
55/81 |
1 |
7-21805388-A-G |
c.9102+181A>G |
- |
IntronicSNV |
- |
55/81 |
1 |
7-21805419-C-G |
c.9102+212C>G |
- |
IntronicSNV |
- |
55/81 |
1 |
7-21807178-C-T |
c.9102+1971C>T |
- |
IntronicSNV |
- |
55/81 |
2 |
7-21811941-G-A |
c.9103-1443G>A |
- |
IntronicSNV |
- |
55/81 |
1 |
7-21811952-T-TG |
c.9103-1432_9103-1431insG |
- |
IntronicInsertion |
- |
55/81 |
1 |
7-21812043-G-T |
c.9103-1341G>T |
- |
IntronicSNV |
- |
55/81 |
1 |
7-21813318-A-ATT |
c.9103-59_9103-58dup |
- |
IntronicInsertion |
- |
55/81 |
3 |
7-21813318-A-AT |
c.9103-58dup |
- |
IntronicInsertion |
- |
55/81 |
3 |
7-21813383-GC-G |
c.9104del |
p.P3035Qfs*18 |
Frameshift |
56/82 |
- |
1 |
7-21813389-G-T |
c.9108G>T |
p.V3036= |
Synonymous |
56/82 |
- |
1 |
7-21813391-A-G |
c.9110A>G |
p.H3037R |
Missense |
56/82 |
- |
1 |
7-21813392-CAAAG-C |
c.9113_9116del |
p.K3038Tfs*14 |
Frameshift |
56/82 |
- |
2 |
7-21813396-G-C |
c.9115G>C |
p.D3039H |
Missense |
56/82 |
- |
1 |
7-21813396-G-T |
c.9115G>T |
p.D3039Y |
Missense |
56/82 |
- |
1 |
7-21813397-A-G |
c.9116A>G |
p.D3039G |
Missense |
56/82 |
- |
1 |
7-21813400-C-A |
c.9119C>A |
p.S3040Y |
Missense |
56/82 |
- |
1 |
7-21813400-C-G |
c.9119C>G |
p.S3040C |
Missense |
56/82 |
- |
2 |
7-21813406-G-A |
c.9125G>A |
p.S3042N |
Missense |
56/82 |
- |
1 |
7-21813413-C-A |
c.9132C>A |
p.F3044L |
Missense |
56/82 |
- |
1 |
7-21813413-C-T |
c.9132C>T |
p.F3044= |
Synonymous |
56/82 |
- |
2 |
7-21813416-G-A |
c.9135G>A |
p.M3045I |
Missense |
56/82 |
- |
1 |
7-21813417-G-A |
c.9136G>A |
p.A3046T |
Missense |
56/82 |
- |
1 |
7-21813432-A-G |
c.9151A>G |
p.T3051A |
Missense |
56/82 |
- |
1 |
7-21813433-C-T |
c.9152C>T |
p.T3051I |
Missense |
56/82 |
- |
1 |
7-21813433-CT-TG |
c.9152_9153delinsTG |
p.T3051M |
Missense |
56/82 |
- |
1 |
7-21813434-T-A |
c.9153T>A |
p.T3051= |
Synonymous |
56/82 |
- |
1 |
7-21813434-T-C |
c.9153T>C |
p.T3051= |
Synonymous |
56/82 |
- |
1 |
7-21813434-T-G |
c.9153T>G |
p.T3051= |
Synonymous |
56/82 |
- |
1 |
7-21813435-G-A |
c.9154G>A |
p.V3052I |
Missense |
56/82 |
- |
1 |
7-21813441-G-C |
c.9160G>C |
p.E3054Q |
Missense |
56/82 |
- |
4 |
7-21813442-A-G |
c.9161A>G |
p.E3054G |
Missense |
56/82 |
- |
1 |
7-21813446-G-A |
c.9165G>A |
p.M3055I |
Missense |
56/82 |
- |
1 |
7-21813446-G-C |
c.9165G>C |
p.M3055I |
Missense |
56/82 |
- |
1 |
7-21813446-G-T |
c.9165G>T |
p.M3055I |
Missense |
56/82 |
- |
1 |
7-21813447-A-G |
c.9166A>G |
p.S3056G |
Missense |
56/82 |
- |
3 |
7-21813452-C-A |
c.9171C>A |
p.T3057= |
Synonymous |
56/82 |
- |
1 |
7-21813463-A-G |
c.9182A>G |
p.Q3061R |
Missense |
56/82 |
- |
1 |
7-21813468-G-A |
c.9187G>A |
p.E3063K |
Missense |
56/82 |
- |
2 |
7-21813469-A-G |
c.9188A>G |
p.E3063G |
Missense |
56/82 |
- |
1 |
7-21813470-G-A |
c.9189G>A |
p.E3063= |
Synonymous |
56/82 |
- |
1 |
7-21813471-A-G |
c.9190A>G |
p.R3064G |
Missense |
56/82 |
- |
1 |
7-21813472-G-A |
c.9191G>A |
p.R3064K |
Missense |
56/82 |
- |
2 |
7-21813473-A-C |
c.9192A>C |
p.R3064S |
Missense |
56/82 |
- |
1 |
7-21813473-A-T |
c.9192A>T |
p.R3064S |
Missense |
56/82 |
- |
1 |
7-21813479-C-A |
c.9198C>A |
p.H3066Q |
Missense |
56/82 |
- |
1 |
7-21813479-C-G |
c.9198C>G |
p.H3066Q |
Missense |
56/82 |
- |
2 |
7-21813481-A-G |
c.9200A>G |
p.N3067S |
Missense |
56/82 |
- |
1 |
7-21813482-C-A |
c.9201C>A |
p.N3067K |
Missense |
56/82 |
- |
1 |
7-21813482-C-G |
c.9201C>G |
p.N3067K |
Missense |
56/82 |
- |
1 |
7-21813484-A-G |
c.9203A>G |
p.Y3068C |
Missense |
56/82 |
- |
1 |
7-21813487-C-T |
c.9206C>T |
p.T3069I |
Missense |
56/82 |
- |
3 |
7-21813490-C-T |
c.9209C>T |
p.T3070I |
Missense |
56/82 |
- |
2 |
7-21813491-C-T |
c.9210C>T |
p.T3070= |
Synonymous |
56/82 |
- |
2 |
7-21813492-C-A |
c.9211C>A |
p.P3071T |
Missense |
56/82 |
- |
1 |
7-21813497-G-A |
c.9216G>A |
p.K3072= |
Synonymous |
56/82 |
- |
1 |
7-21813499-G-T |
c.9218G>T |
p.S3073I |
Missense |
56/82 |
- |
1 |
7-21813507-G-A |
c.9226G>A |
p.E3076K |
Missense |
56/82 |
- |
2 |
7-21813517-C-A |
c.9236C>A |
p.S3079* |
Nonsense |
56/82 |
- |
3 |
7-21813517-C-G |
c.9236C>G |
p.S3079* |
Nonsense |
56/82 |
- |
2 |
7-21813517-C-T |
c.9236C>T |
p.S3079L |
Missense |
56/82 |
- |
4 |
7-21813519-C-A |
c.9238C>A |
p.L3080M |
Missense |
56/82 |
- |
1 |
7-21813520-T-G |
c.9239T>G |
p.L3080R |
Missense |
56/82 |
- |
1 |
7-21813522-T-C |
c.9241T>C |
p.F3081L |
Missense |
56/82 |
- |
1 |
7-21813525-TAA-T |
c.9244_9245del |
p.K3082Efs*9 |
Frameshift |
56/82 |
- |
1 |
7-21813531-C-A |
c.9250C>A |
p.L3084M |
Missense |
56/82 |
- |
1 |
7-21813531-C-T |
c.9250C>T |
p.L3084= |
Synonymous |
56/82 |
- |
1 |
7-21813533-G-A |
c.9252G>A |
p.L3084= |
Synonymous |
56/82 |
- |
1 |
7-21813533-G-C |
c.9252G>C |
p.L3084= |
Synonymous |
56/82 |
- |
1 |
7-21813533-G-T |
c.9252G>T |
p.L3084= |
Synonymous |
56/82 |
- |
1 |
7-21813534-T-C |
c.9253T>C |
p.L3085= |
Synonymous |
56/82 |
- |
2 |
7-21813536-G-A |
c.9255G>A |
p.L3085= |
Synonymous |
56/82 |
- |
2 |
7-21813541-A-G |
c.9260A>G |
p.K3087R |
Missense |
56/82 |
- |
2 |
7-21813535-TGAA-T |
c.9262_9264del |
p.K3088del |
InFrameDeletion |
56/82 |
- |
1 |
7-21813547-A-G |
c.9266A>G |
p.Q3089R |
Missense |
56/82 |
- |
1 |
7-21813546-C-CA |
c.9269dup |
p.N3090Kfs*2 |
Frameshift |
56/82 |
- |
2 |
7-21813550-A-G |
c.9269A>G |
p.N3090S |
Missense |
56/82 |
- |
1 |
7-21813555-G-A |
c.9274G>A |
p.V3092I |
Missense |
56/82 |
- |
2 |
7-21813556-T-C |
c.9275T>C |
p.V3092A |
Missense |
56/82 |
- |
3 |
7-21813559-C-A |
c.9278C>A |
p.S3093Y |
Missense |
56/82 |
- |
3 |
7-21813560-C-A |
c.9279C>A |
p.S3093= |
Synonymous |
56/82 |
- |
3 |
7-21813560-C-G |
c.9279C>G |
p.S3093= |
Synonymous |
56/82 |
- |
3 |
7-21813560-C-T |
c.9279C>T |
p.S3093= |
Synonymous |
56/82 |
- |
4 |
7-21813561-G-A |
c.9280G>A |
p.E3094K |
Missense |
56/82 |
- |
2 |
7-21813563-G-C |
c.9282G>C |
p.E3094D |
Missense |
56/82 |
- |
1 |
7-21813563-G-T |
c.9282G>T |
p.E3094D |
Missense |
56/82 |
- |
1 |
7-21813570-AG-A |
c.9289del |
p.E3097Nfs*4 |
Frameshift |
56/82 |
- |
2 |
7-21813570-G-A |
c.9289G>A |
p.E3097K |
Missense |
56/82 |
- |
1 |
7-21813573-C-T |
c.9292C>T |
p.R3098C |
Missense |
56/82 |
- |
3 |
7-21813574-G-A |
c.9293G>A |
p.R3098H |
Missense |
56/82 |
- |
1 |
7-21813585-G-A |
c.9304G>A |
p.G3102S |
Missense |
56/82 |
- |
4 |
7-21813586-G-A |
c.9305G>A |
p.G3102D |
Missense |
56/82 |
- |
3 |
7-21813604-C-G |
c.9323C>G |
p.T3108S |
Missense |
56/82 |
- |
1 |
7-21813605-C-T |
c.9324C>T |
p.T3108= |
Synonymous |
56/82 |
- |
1 |
7-21813606-A-T |
c.9325A>T |
p.T3109S |
Missense |
56/82 |
- |
2 |
7-21813611-C-T |
c.9330C>T |
p.A3110= |
Synonymous |
56/82 |
- |
1 |
7-21813622-G-C |
c.9336+5G>C |
- |
IntronicSNV |
- |
56/81 |
1 |
7-21818323-T-C |
c.9337-253T>C |
- |
IntronicSNV |
- |
56/81 |
2 |
7-21818486-A-G |
c.9337-90A>G |
- |
IntronicSNV |
- |
56/81 |
5 |
7-21818486-A-T |
c.9337-90A>T |
- |
IntronicSNV |
- |
56/81 |
5 |
7-21818551-G-A |
c.9337-25G>A |
- |
IntronicSNV |
- |
56/81 |
1 |
7-21818551-G-C |
c.9337-25G>C |
- |
IntronicSNV |
- |
56/81 |
1 |
7-21818579-G-T |
c.9340G>T |
p.G3114* |
Nonsense |
57/82 |
- |
1 |
7-21818582-G-A |
c.9343G>A |
p.D3115N |
Missense |
57/82 |
- |
1 |
7-21818583-A-C |
c.9344A>C |
p.D3115A |
Missense |
57/82 |
- |
1 |
7-21818585-C-A |
c.9346C>A |
p.L3116I |
Missense |
57/82 |
- |
1 |
7-21818585-C-T |
c.9346C>T |
p.L3116= |
Synonymous |
57/82 |
- |
1 |
7-21818595-G-A |
c.9356G>A |
p.R3119K |
Missense |
57/82 |
- |
3 |
7-21818597-C-A |
c.9358C>A |
p.L3120I |
Missense |
57/82 |
- |
1 |
7-21818598-T-C |
c.9359T>C |
p.L3120P |
Missense |
57/82 |
- |
1 |
7-21818600-G-T |
c.9361G>T |
p.A3121S |
Missense |
57/82 |
- |
1 |
7-21818601-C-A |
c.9362C>A |
p.A3121D |
Missense |
57/82 |
- |
1 |
7-21818604-C-G |
c.9365C>G |
p.S3122C |
Missense |
57/82 |
- |
3 |
7-21818615-G-A |
c.9376G>A |
p.E3126K |
Missense |
57/82 |
- |
2 |
7-21818617-G-C |
c.9378G>C |
p.E3126D |
Missense |
57/82 |
- |
2 |
7-21818618-C-A |
c.9379C>A |
p.L3127M |
Missense |
57/82 |
- |
1 |
7-21818619-T-C |
c.9380T>C |
p.L3127P |
Missense |
57/82 |
- |
1 |
7-21818619-T-G |
c.9380T>G |
p.L3127R |
Missense |
57/82 |
- |
2 |
7-21818628-G-A |
c.9389G>A |
p.R3130K |
Missense |
57/82 |
- |
2 |
7-21818631-A-G |
c.9392A>G |
p.N3131S |
Missense |
57/82 |
- |
1 |
7-21818633-C-T |
c.9394C>T |
p.H3132Y |
Missense |
57/82 |
- |
6 |
7-21818636-G-A |
c.9397G>A |
p.D3133N |
Missense |
57/82 |
- |
1 |
7-21818639-G-T |
c.9400G>T |
p.A3134S |
Missense |
57/82 |
- |
1 |
7-21818641-C-A |
c.9402C>A |
p.A3134= |
Synonymous |
57/82 |
- |
1 |
7-21818641-C-G |
c.9402C>G |
p.A3134= |
Synonymous |
57/82 |
- |
2 |
7-21818641-C-T |
c.9402C>T |
p.A3134= |
Synonymous |
57/82 |
- |
2 |
7-21818642-G-A |
c.9403G>A |
p.E3135K |
Missense |
57/82 |
- |
3 |
7-21818646-C-T |
c.9407C>T |
p.A3136V |
Missense |
57/82 |
- |
3 |
7-21818656-A-C |
c.9417A>C |
p.T3139= |
Synonymous |
57/82 |
- |
2 |
7-21818656-A-G |
c.9417A>G |
p.T3139= |
Synonymous |
57/82 |
- |
2 |
7-21818656-A-T |
c.9417A>T |
p.T3139= |
Synonymous |
57/82 |
- |
2 |
7-21818658-A-C |
c.9419A>C |
p.K3140T |
Missense |
57/82 |
- |
1 |
7-21818663-G-A |
c.9424G>A |
p.G3142S |
Missense |
57/82 |
- |
1 |
7-21818665-C-A |
c.9426C>A |
p.G3142= |
Synonymous |
57/82 |
- |
1 |
7-21818665-C-G |
c.9426C>G |
p.G3142= |
Synonymous |
57/82 |
- |
1 |
7-21818665-C-T |
c.9426C>T |
p.G3142= |
Synonymous |
57/82 |
- |
1 |
7-21818669-C-G |
c.9430C>G |
p.Q3144E |
Missense |
57/82 |
- |
1 |
7-21818670-A-T |
c.9431A>T |
p.Q3144L |
Missense |
57/82 |
- |
1 |
7-21818673-C-A |
c.9434C>A |
p.T3145K |
Missense |
57/82 |
- |
1 |
7-21818673-C-T |
c.9434C>T |
p.T3145M |
Missense |
57/82 |
- |
2 |
7-21818674-G-A |
c.9435G>A |
p.T3145= |
Synonymous |
57/82 |
- |
3 |
7-21818674-G-C |
c.9435G>C |
p.T3145= |
Synonymous |
57/82 |
- |
1 |
7-21818674-G-T |
c.9435G>T |
p.T3145= |
Synonymous |
57/82 |
- |
1 |
7-21818675-G-A |
c.9436G>A |
p.E3146K |
Missense |
57/82 |
- |
3 |
7-21818675-G-C |
c.9436G>C |
p.E3146Q |
Missense |
57/82 |
- |
1 |
7-21818675-G-T |
c.9436G>T |
p.E3146* |
Nonsense |
57/82 |
- |
1 |
7-21818679-A-C |
c.9440A>C |
p.K3147T |
Missense |
57/82 |
- |
1 |
7-21818681-G-C |
c.9442G>C |
p.V3148L |
Missense |
57/82 |
- |
1 |
7-21818683-G-A |
c.9444G>A |
p.V3148= |
Synonymous |
57/82 |
- |
2 |
7-21818683-G-C |
c.9444G>C |
p.V3148= |
Synonymous |
57/82 |
- |
2 |
7-21818683-G-T |
c.9444G>T |
p.V3148= |
Synonymous |
57/82 |
- |
2 |
7-21818686-C-G |
c.9447C>G |
p.S3149R |
Missense |
57/82 |
- |
1 |
7-21818687-C-A |
c.9448C>A |
p.R3150= |
Synonymous |
57/82 |
- |
1 |
7-21818687-C-T |
c.9448C>T |
p.R3150W |
Missense |
57/82 |
- |
2 |
7-21818689-G-A |
c.9450G>A |
p.R3150= |
Synonymous |
57/82 |
- |
1 |
7-21818689-G-C |
c.9450G>C |
p.R3150= |
Synonymous |
57/82 |
- |
1 |
7-21818689-G-T |
c.9450G>T |
p.R3150= |
Synonymous |
57/82 |
- |
1 |
7-21818688-G-A |
c.9449G>A |
p.R3150Q |
Missense |
57/82 |
- |
3 |
7-21818690-G-A |
c.9451G>A |
p.E3151K |
Missense |
57/82 |
- |
2 |
7-21818696-A-T |
c.9457A>T |
p.T3153S |
Missense |
57/82 |
- |
2 |
7-21818697-C-G |
c.9458C>G |
p.T3153S |
Missense |
57/82 |
- |
2 |
7-21818701-C-A |
c.9462C>A |
p.I3154= |
Synonymous |
57/82 |
- |
1 |
7-21818701-C-T |
c.9462C>T |
p.I3154= |
Synonymous |
57/82 |
- |
1 |
7-21818707-T-A |
c.9468T>A |
p.D3156E |
Missense |
57/82 |
- |
1 |
7-21818707-T-C |
c.9468T>C |
p.D3156= |
Synonymous |
57/82 |
- |
3 |
7-21818709-C-T |
c.9470C>T |
p.A3157V |
Missense |
57/82 |
- |
2 |
7-21818711-G-A |
c.9472G>A |
p.E3158K |
Missense |
57/82 |
- |
4 |
7-21818711-G-C |
c.9472G>C |
p.E3158Q |
Missense |
57/82 |
- |
1 |
7-21818712-AG-A |
c.9475del |
p.E3159Sfs*4 |
Frameshift |
57/82 |
- |
1 |
7-21818717-C-A |
c.9478C>A |
p.R3160= |
Synonymous |
57/82 |
- |
1 |
7-21818719-A-C |
c.9480A>C |
p.R3160= |
Synonymous |
57/82 |
- |
1 |
7-21818719-A-G |
c.9480A>G |
p.R3160= |
Synonymous |
57/82 |
- |
1 |
7-21818719-A-T |
c.9480A>T |
p.R3160= |
Synonymous |
57/82 |
- |
1 |
7-21818718-G-A |
c.9479G>A |
p.R3160Q |
Missense |
57/82 |
- |
2 |
7-21818850-A-G |
c.9483+128A>G |
- |
IntronicSNV |
- |
57/81 |
2 |
7-21818989-A-C |
c.9483+267A>C |
- |
IntronicSNV |
- |
57/81 |
1 |
7-21819000-T-C |
c.9483+278T>C |
- |
IntronicSNV |
- |
57/81 |
1 |
7-21819000-T-G |
c.9483+278T>G |
- |
IntronicSNV |
- |
57/81 |
1 |
7-21819545-C-A |
c.9483+823C>A |
- |
IntronicSNV |
- |
57/81 |
11 |
7-21819545-C-T |
c.9483+823C>T |
- |
IntronicSNV |
- |
57/81 |
11 |
7-21821011-C-T |
c.9483+2289C>T |
- |
IntronicSNV |
- |
57/81 |
1 |
7-21823862-G-T |
c.9484-183G>T |
- |
IntronicSNV |
- |
57/81 |
2 |
7-21824040-A-G |
c.9484-5A>G |
- |
IntronicSNV |
- |
57/81 |
1 |
7-21824040-A-T |
c.9484-5A>T |
- |
IntronicSNV |
- |
57/81 |
1 |
7-21824045-G-A |
c.9484G>A |
p.V3162M |
Missense |
58/82 |
- |
1 |
7-21824045-GTG-ATC |
c.9484_9486delinsATC |
p.V3162I |
Missense |
58/82 |
- |
1 |
7-21824048-A-G |
c.9487A>G |
p.T3163A |
Missense |
58/82 |
- |
2 |
7-21824053-C-A |
c.9492C>A |
p.A3164= |
Synonymous |
58/82 |
- |
1 |
7-21824053-C-G |
c.9492C>G |
p.A3164= |
Synonymous |
58/82 |
- |
1 |
7-21824053-C-T |
c.9492C>T |
p.A3164= |
Synonymous |
58/82 |
- |
1 |
7-21824058-A-G |
c.9497A>G |
p.Q3166R |
Missense |
58/82 |
- |
1 |
7-21824063-G-C |
c.9502G>C |
p.E3168Q |
Missense |
58/82 |
- |
1 |
7-21824066-G-T |
c.9505G>T |
p.V3169L |
Missense |
58/82 |
- |
2 |
7-21824069-T-C |
c.9508T>C |
p.F3170L |
Missense |
58/82 |
- |
1 |
7-21824071-C-A |
c.9510C>A |
p.F3170L |
Missense |
58/82 |
- |
1 |
7-21824071-C-G |
c.9510C>G |
p.F3170L |
Missense |
58/82 |
- |
1 |
7-21824074-G-GT |
c.9513_9514insT |
p.K3172* |
Nonsense |
58/82 |
- |
1 |
7-21824077-A-G |
c.9516A>G |
p.K3172= |
Synonymous |
58/82 |
- |
1 |
7-21824080-G-C |
c.9519G>C |
p.Q3173H |
Missense |
58/82 |
- |
1 |
7-21824080-G-T |
c.9519G>T |
p.Q3173H |
Missense |
58/82 |
- |
1 |
7-21824090-G-A |
c.9529G>A |
p.E3177K |
Missense |
58/82 |
- |
1 |
7-21824100-T-A |
c.9539T>A |
p.L3180* |
Nonsense |
58/82 |
- |
2 |
7-21824106-A-T |
c.9545A>T |
p.K3182M |
Missense |
58/82 |
- |
1 |
7-21824115-C-T |
c.9554C>T |
p.P3185L |
Missense |
58/82 |
- |
1 |
7-21824120-C-G |
c.9559C>G |
p.L3187V |
Missense |
58/82 |
- |
1 |
7-21824120-C-T |
c.9559C>T |
p.L3187= |
Synonymous |
58/82 |
- |
2 |
7-21824122-G-A |
c.9561G>A |
p.L3187= |
Synonymous |
58/82 |
- |
9 |
7-21824122-G-C |
c.9561G>C |
p.L3187= |
Synonymous |
58/82 |
- |
9 |
7-21824122-G-T |
c.9561G>T |
p.L3187= |
Synonymous |
58/82 |
- |
2 |
7-21824123-G-A |
c.9562G>A |
p.V3188M |
Missense |
58/82 |
- |
1 |
7-21824133-C-A |
c.9572C>A |
p.T3191K |
Missense |
58/82 |
- |
1 |
7-21824133-C-T |
c.9572C>T |
p.T3191I |
Missense |
58/82 |
- |
1 |
7-21824135-G-A |
c.9574G>A |
p.A3192T |
Missense |
58/82 |
- |
1 |
7-21824136-C-A |
c.9575C>A |
p.A3192D |
Missense |
58/82 |
- |
1 |
7-21824143-C-A |
c.9582C>A |
p.L3194= |
Synonymous |
58/82 |
- |
5 |
7-21824143-C-G |
c.9582C>G |
p.L3194= |
Synonymous |
58/82 |
- |
5 |
7-21824143-C-T |
c.9582C>T |
p.L3194= |
Synonymous |
58/82 |
- |
5 |
7-21824145-A-G |
c.9584A>G |
p.N3195S |
Missense |
58/82 |
- |
2 |
7-21824156-A-C |
c.9595A>C |
p.R3199= |
Synonymous |
58/82 |
- |
1 |
7-21824158-G-A |
c.9597G>A |
p.R3199= |
Synonymous |
58/82 |
- |
1 |
7-21824244-C-A |
c.9597+86C>A |
- |
IntronicSNV |
- |
58/81 |
2 |
7-21824244-C-T |
c.9597+86C>T |
- |
IntronicSNV |
- |
58/81 |
2 |
7-21824245-C-A |
c.9597+87C>A |
- |
IntronicSNV |
- |
58/81 |
1 |
7-21824306-C-T |
c.9597+148C>T |
- |
IntronicSNV |
- |
58/81 |
2 |
7-21826035-C-T |
c.9598-207C>T |
- |
IntronicSNV |
- |
58/81 |
1 |
7-21826073-C-A |
c.9598-169C>A |
- |
IntronicSNV |
- |
58/81 |
1 |
7-21826073-C-G |
c.9598-169C>G |
- |
IntronicSNV |
- |
58/81 |
1 |
7-21826199-G-A |
c.9598-43G>A |
- |
IntronicSNV |
- |
58/81 |
5 |
7-21826199-G-C |
c.9598-43G>C |
- |
IntronicSNV |
- |
58/81 |
5 |
7-21826199-G-T |
c.9598-43G>T |
- |
IntronicSNV |
- |
58/81 |
5 |
7-21826242-G-T |
c.9598G>T |
p.V3200F |
Missense |
59/82 |
- |
1 |
7-21826243-T-C |
c.9599T>C |
p.V3200A |
Missense |
59/82 |
- |
1 |
7-21826246-A-C |
c.9602A>C |
p.N3201T |
Missense |
59/82 |
- |
2 |
7-21826246-A-G |
c.9602A>G |
p.N3201S |
Missense |
59/82 |
- |
1 |
7-21826250-C-A |
c.9606C>A |
p.L3202= |
Synonymous |
59/82 |
- |
1 |
7-21826250-C-G |
c.9606C>G |
p.L3202= |
Synonymous |
59/82 |
- |
1 |
7-21826250-C-T |
c.9606C>T |
p.L3202= |
Synonymous |
59/82 |
- |
1 |
7-21826257-C-G |
c.9613C>G |
p.L3205V |
Missense |
59/82 |
- |
1 |
7-21826257-C-T |
c.9613C>T |
p.L3205= |
Synonymous |
59/82 |
- |
2 |
7-21826259-G-A |
c.9615G>A |
p.L3205= |
Synonymous |
59/82 |
- |
2 |
7-21826259-G-C |
c.9615G>C |
p.L3205= |
Synonymous |
59/82 |
- |
2 |
7-21826259-G-T |
c.9615G>T |
p.L3205= |
Synonymous |
59/82 |
- |
2 |
7-21826261-A-G |
c.9617A>G |
p.K3206R |
Missense |
59/82 |
- |
2 |
7-21826263-G-A |
c.9619G>A |
p.A3207T |
Missense |
59/82 |
- |
4 |
7-21826264-C-G |
c.9620C>G |
p.A3207G |
Missense |
59/82 |
- |
2 |
7-21826264-C-T |
c.9620C>T |
p.A3207V |
Missense |
59/82 |
- |
2 |
7-21826266-T-C |
c.9622T>C |
p.F3208L |
Missense |
59/82 |
- |
1 |
7-21826268-T-A |
c.9624T>A |
p.F3208L |
Missense |
59/82 |
- |
1 |
7-21826268-T-G |
c.9624T>G |
p.F3208L |
Missense |
59/82 |
- |
1 |
7-21826269-C-T |
c.9625C>T |
p.P3209S |
Missense |
59/82 |
- |
7 |
7-21826271-C-T |
c.9627C>T |
p.P3209= |
Synonymous |
59/82 |
- |
1 |
7-21826273-A-G |
c.9629A>G |
p.N3210S |
Missense |
59/82 |
- |
1 |
7-21826275-C-T |
c.9631C>T |
p.P3211S |
Missense |
59/82 |
- |
1 |
7-21826276-C-T |
c.9632C>T |
p.P3211L |
Missense |
59/82 |
- |
1 |
7-21826279-C-A |
c.9635C>A |
p.P3212H |
Missense |
59/82 |
- |
1 |
7-21826279-C-T |
c.9635C>T |
p.P3212L |
Missense |
59/82 |
- |
1 |
7-21826280-C-A |
c.9636C>A |
p.P3212= |
Synonymous |
59/82 |
- |
1 |
7-21826280-C-G |
c.9636C>G |
p.P3212= |
Synonymous |
59/82 |
- |
1 |
7-21826280-C-T |
c.9636C>T |
p.P3212= |
Synonymous |
59/82 |
- |
1 |
7-21826283-C-T |
c.9639C>T |
p.I3213= |
Synonymous |
59/82 |
- |
1 |
7-21826284-G-A |
c.9640G>A |
p.A3214T |
Missense |
59/82 |
- |
3 |
7-21826286-A-G |
c.9642A>G |
p.A3214= |
Synonymous |
59/82 |
- |
1 |
7-21826299-A-G |
c.9655A>G |
p.T3219A |
Missense |
59/82 |
- |
1 |
7-21826302-GC-CT |
c.9658_9659delinsCT |
p.A3220L |
Missense |
59/82 |
- |
1 |
7-21826303-C-T |
c.9659C>T |
p.A3220V |
Missense |
59/82 |
- |
1 |
7-21826305-G-A |
c.9661G>A |
p.A3221T |
Missense |
59/82 |
- |
1 |
7-21826306-C-T |
c.9662C>T |
p.A3221V |
Missense |
59/82 |
- |
3 |
7-21826308-G-A |
c.9664G>A |
p.V3222M |
Missense |
59/82 |
- |
1 |
7-21826308-G-C |
c.9664G>C |
p.V3222L |
Missense |
59/82 |
- |
1 |
7-21826309-T-C |
c.9665T>C |
p.V3222A |
Missense |
59/82 |
- |
1 |
7-21826310-G-C |
c.9666G>C |
p.V3222= |
Synonymous |
59/82 |
- |
1 |
7-21826313-G-C |
c.9669G>C |
p.M3223I |
Missense |
59/82 |
- |
1 |
7-21826313-G-T |
c.9669G>T |
p.M3223I |
Missense |
59/82 |
- |
2 |
7-21826314-G-C |
c.9670G>C |
p.V3224L |
Missense |
59/82 |
- |
1 |
7-21826324-C-T |
c.9680C>T |
p.A3227V |
Missense |
59/82 |
- |
3 |
7-21826326-CC-TT |
c.9682_9683delinsTT |
p.P3228F |
Missense |
59/82 |
- |
1 |
7-21826326-C-T |
c.9682C>T |
p.P3228S |
Missense |
59/82 |
- |
1 |
7-21826327-C-T |
c.9683C>T |
p.P3228L |
Missense |
59/82 |
- |
2 |
7-21826329-C-T |
c.9685C>T |
p.R3229W |
Missense |
59/82 |
- |
1 |
7-21826330-G-A |
c.9686G>A |
p.R3229Q |
Missense |
59/82 |
- |
1 |
7-21826330-G-C |
c.9686G>C |
p.R3229P |
Missense |
59/82 |
- |
1 |
7-21826333-G-A |
c.9689G>A |
p.G3230E |
Missense |
59/82 |
- |
3 |
7-21826335-AGA-TGT |
c.9691_9693delinsTGT |
p.R3231C |
Missense |
59/82 |
- |
1 |
7-21826344-A-G |
c.9700A>G |
p.K3234E |
Missense |
59/82 |
- |
1 |
7-21826345-A-G |
c.9701A>G |
p.K3234R |
Missense |
59/82 |
- |
1 |
7-21826347-G-A |
c.9703G>A |
p.D3235N |
Missense |
59/82 |
- |
1 |
7-21826348-A-T |
c.9704A>T |
p.D3235V |
Missense |
59/82 |
- |
1 |
7-21826349-C-T |
c.9705C>T |
p.D3235= |
Synonymous |
59/82 |
- |
2 |
7-21826350-CGA-TGG |
c.9706_9708delinsTGG |
p.R3236W |
Missense |
59/82 |
- |
1 |
7-21826350-C-T |
c.9706C>T |
p.R3236* |
Nonsense |
59/82 |
- |
3 |
7-21826351-G-A |
c.9707G>A |
p.R3236Q |
Missense |
59/82 |
- |
2 |
7-21826353-A-C |
c.9709A>C |
p.S3237R |
Missense |
59/82 |
- |
1 |
7-21826356-T-A |
c.9712T>A |
p.W3238R |
Missense |
59/82 |
- |
3 |
7-21826356-T-C |
c.9712T>C |
p.W3238R |
Missense |
59/82 |
- |
3 |
7-21826357-G-A |
c.9713G>A |
p.W3238* |
Nonsense |
59/82 |
- |
3 |
7-21826358-G-A |
c.9714G>A |
p.W3238* |
Nonsense |
59/82 |
- |
4 |
7-21826362-G-C |
c.9718G>C |
p.A3240P |
Missense |
59/82 |
- |
1 |
7-21826365-G-A |
c.9721G>A |
p.A3241T |
Missense |
59/82 |
- |
1 |
7-21826373-C-A |
c.9729C>A |
p.V3243= |
Synonymous |
59/82 |
- |
1 |
7-21826373-C-G |
c.9729C>G |
p.V3243= |
Synonymous |
59/82 |
- |
1 |
7-21826373-C-T |
c.9729C>T |
p.V3243= |
Synonymous |
59/82 |
- |
1 |
7-21826376-C-T |
c.9732C>T |
p.F3244= |
Synonymous |
59/82 |
- |
1 |
7-21826377-A-G |
c.9733A>G |
p.M3245V |
Missense |
59/82 |
- |
1 |
7-21826379-G-A |
c.9735G>A |
p.M3245I |
Missense |
59/82 |
- |
1 |
7-21826380-G-A |
c.9736G>A |
p.G3246R |
Missense |
59/82 |
- |
1 |
7-21826380-GGA-TGT |
c.9736_9738delinsTGT |
p.G3246C |
Missense |
59/82 |
- |
1 |
7-21826381-G-C |
c.9737G>C |
p.G3246A |
Missense |
59/82 |
- |
1 |
7-21826407-A-G |
c.9741+22A>G |
- |
IntronicSNV |
- |
59/81 |
1 |
7-21826562-G-T |
c.9741+177G>T |
- |
IntronicSNV |
- |
59/81 |
1 |
7-21826642-C-A |
c.9741+257C>A |
- |
IntronicSNV |
- |
59/81 |
1 |
7-21826643-A-G |
c.9741+258A>G |
- |
IntronicSNV |
- |
59/81 |
1 |
7-21826645-T-C |
c.9741+260T>C |
- |
IntronicSNV |
- |
59/81 |
1 |
7-21826867-A-C |
c.9742-152A>C |
- |
IntronicSNV |
- |
59/81 |
1 |
7-21827019-G-A |
c.9742G>A |
p.V3248I |
Missense |
60/82 |
- |
1 |
7-21827019-G-T |
c.9742G>T |
p.V3248F |
Missense |
60/82 |
- |
1 |
7-21827022-G-A |
c.9745G>A |
p.D3249N |
Missense |
60/82 |
- |
1 |
7-21827025-G-A |
c.9748G>A |
p.D3250N |
Missense |
60/82 |
- |
4 |
7-21827026-A-AT |
c.9755dup |
p.L3252Ffs*6 |
Frameshift |
60/82 |
- |
1 |
7-21827034-C-A |
c.9757C>A |
p.Q3253K |
Missense |
60/82 |
- |
2 |
7-21827038-C-T |
c.9761C>T |
p.A3254V |
Missense |
60/82 |
- |
1 |
7-21827041-T-C |
c.9764T>C |
p.L3255S |
Missense |
60/82 |
- |
2 |
7-21827042-A-T |
c.9765A>T |
p.L3255F |
Missense |
60/82 |
- |
1 |
7-21827045-T-C |
c.9768T>C |
p.I3256= |
Synonymous |
60/82 |
- |
1 |
7-21827048-C-G |
c.9771C>G |
p.N3257K |
Missense |
60/82 |
- |
1 |
7-21827049-T-C |
c.9772T>C |
p.Y3258H |
Missense |
60/82 |
- |
3 |
7-21827053-A-G |
c.9776A>G |
p.D3259G |
Missense |
60/82 |
- |
1 |
7-21827060-G-C |
c.9783G>C |
p.E3261D |
Missense |
60/82 |
- |
4 |
7-21827060-G-T |
c.9783G>T |
p.E3261D |
Missense |
60/82 |
- |
3 |
7-21827064-A-G |
c.9787A>G |
p.I3263V |
Missense |
60/82 |
- |
3 |
7-21827067-C-T |
c.9790C>T |
p.P3264S |
Missense |
60/82 |
- |
2 |
7-21827070-G-A |
c.9793G>A |
p.E3265K |
Missense |
60/82 |
- |
3 |
7-21827070-G-C |
c.9793G>C |
p.E3265Q |
Missense |
60/82 |
- |
1 |
7-21827071-A-G |
c.9794A>G |
p.E3265G |
Missense |
60/82 |
- |
1 |
7-21827072-G-T |
c.9795G>T |
p.E3265D |
Missense |
60/82 |
- |
1 |
7-21827074-A-G |
c.9797A>G |
p.N3266S |
Missense |
60/82 |
- |
1 |
7-21827088-G-A |
c.9811G>A |
p.V3271M |
Missense |
60/82 |
- |
1 |
7-21827094-G-A |
c.9817G>A |
p.E3273K |
Missense |
60/82 |
- |
1 |
7-21827094-G-T |
c.9817G>T |
p.E3273* |
Nonsense |
60/82 |
- |
1 |
7-21827095-A-C |
c.9818A>C |
p.E3273A |
Missense |
60/82 |
- |
2 |
7-21827097-C-G |
c.9820C>G |
p.H3274D |
Missense |
60/82 |
- |
1 |
7-21827101-A-G |
c.9824A>G |
p.Y3275C |
Missense |
60/82 |
- |
1 |
7-21827103-T-C |
c.9826T>C |
p.L3276= |
Synonymous |
60/82 |
- |
1 |
7-21827105-G-A |
c.9828G>A |
p.L3276= |
Synonymous |
60/82 |
- |
1 |
7-21827109-G-A |
c.9832G>A |
p.D3278N |
Missense |
60/82 |
- |
1 |
7-21827111-C-T |
c.9834C>T |
p.D3278= |
Synonymous |
60/82 |
- |
1 |
7-21827115-G-C |
c.9838G>C |
p.E3280Q |
Missense |
60/82 |
- |
1 |
7-21827121-A-C |
c.9844A>C |
p.N3282H |
Missense |
60/82 |
- |
1 |
7-21827122-A-T |
c.9845A>T |
p.N3282I |
Missense |
60/82 |
- |
3 |
7-21827124-C-A |
c.9847C>A |
p.P3283T |
Missense |
60/82 |
- |
2 |
7-21827129-ACCT-A |
c.9852_9854del |
p.N3284_L3285delinsK |
MultiAAMissense |
60/82 |
- |
1 |
7-21827130-C-T |
c.9853C>T |
p.L3285= |
Synonymous |
60/82 |
- |
1 |
7-21827133-A-T |
c.9856A>T |
p.I3286F |
Missense |
60/82 |
- |
1 |
7-21827136-C-T |
c.9859C>T |
p.R3287* |
Nonsense |
60/82 |
- |
3 |
7-21827136-TCGAACCAAATCTTTTGCA-T |
c.9859_9876del |
p.R3287_A3292del |
InFrameDeletion |
60/82 |
- |
1 |
7-21827137-G-A |
c.9860G>A |
p.R3287Q |
Missense |
60/82 |
- |
1 |
7-21827139-A-G |
c.9862A>G |
p.T3288A |
Missense |
60/82 |
- |
1 |
7-21827139-A-T |
c.9862A>T |
p.T3288S |
Missense |
60/82 |
- |
1 |
7-21827140-C-G |
c.9863C>G |
p.T3288S |
Missense |
60/82 |
- |
1 |
7-21827143-A-T |
c.9866A>T |
p.K3289I |
Missense |
60/82 |
- |
1 |
7-21827146-C-G |
c.9869C>G |
p.S3290C |
Missense |
60/82 |
- |
1 |
7-21827146-C-T |
c.9869C>T |
p.S3290F |
Missense |
60/82 |
- |
2 |
7-21827147-T-G |
c.9870T>G |
p.S3290= |
Synonymous |
60/82 |
- |
2 |
7-21827157-G-A |
c.9880G>A |
p.A3294T |
Missense |
60/82 |
- |
1 |
7-21827157-G-C |
c.9880G>C |
p.A3294P |
Missense |
60/82 |
- |
1 |
7-21827158-C-G |
c.9881C>G |
p.A3294G |
Missense |
60/82 |
- |
1 |
7-21827165-G-A |
c.9888G>A |
p.L3296= |
Synonymous |
60/82 |
- |
1 |
7-21827191-A-C |
c.9914A>C |
p.K3305T |
Missense |
60/82 |
- |
1 |
7-21827193-T-C |
c.9916T>C |
p.F3306L |
Missense |
60/82 |
- |
1 |
7-21827195-C-A |
c.9918C>A |
p.F3306L |
Missense |
60/82 |
- |
1 |
7-21827195-C-G |
c.9918C>G |
p.F3306L |
Missense |
60/82 |
- |
1 |
7-21827194-T-A |
c.9917T>A |
p.F3306Y |
Missense |
60/82 |
- |
1 |
7-21827194-T-G |
c.9917T>G |
p.F3306C |
Missense |
60/82 |
- |
1 |
7-21827195-C-T |
c.9918C>T |
p.F3306= |
Synonymous |
60/82 |
- |
1 |
7-21827197-A-G |
c.9920A>G |
p.Y3307C |
Missense |
60/82 |
- |
1 |
7-21827199-G-A |
c.9922G>A |
p.E3308K |
Missense |
60/82 |
- |
3 |
7-21827201-G-A |
c.9924G>A |
p.E3308= |
Synonymous |
60/82 |
- |
1 |
7-21827358-A-G |
c.9924+157A>G |
- |
IntronicSNV |
- |
60/81 |
2 |
7-21828080-C-T |
c.9925-779C>T |
- |
IntronicSNV |
- |
60/81 |
1 |
7-21828743-T-TA |
c.9925-109dup |
- |
IntronicInsertion |
- |
60/81 |
2 |
7-21828864-C-T |
c.9930C>T |
p.Y3310= |
Synonymous |
61/82 |
- |
1 |
7-21828866-G-A |
c.9932G>A |
p.C3311Y |
Missense |
61/82 |
- |
1 |
7-21828869-A-T |
c.9935A>T |
p.D3312V |
Missense |
61/82 |
- |
4 |
7-21828870-T-A |
c.9936T>A |
p.D3312E |
Missense |
61/82 |
- |
1 |
7-21828870-T-G |
c.9936T>G |
p.D3312E |
Missense |
61/82 |
- |
1 |
7-21828871-G-A |
c.9937G>A |
p.V3313M |
Missense |
61/82 |
- |
1 |
7-21828872-T-G |
c.9938T>G |
p.V3313G |
Missense |
61/82 |
- |
1 |
7-21828875-A-G |
c.9941A>G |
p.E3314G |
Missense |
61/82 |
- |
1 |
7-21828876-G-A |
c.9942G>A |
p.E3314= |
Synonymous |
61/82 |
- |
1 |
7-21828883-C-T |
c.9949C>T |
p.R3317C |
Missense |
61/82 |
- |
1 |
7-21828889-G-A |
c.9955G>A |
p.A3319T |
Missense |
61/82 |
- |
2 |
7-21828889-G-T |
c.9955G>T |
p.A3319S |
Missense |
61/82 |
- |
1 |
7-21828895-G-A |
c.9961G>A |
p.A3321T |
Missense |
61/82 |
- |
1 |
7-21828895-G-T |
c.9961G>T |
p.A3321S |
Missense |
61/82 |
- |
1 |
7-21828897-C-T |
c.9963C>T |
p.A3321= |
Synonymous |
61/82 |
- |
1 |
7-21828904-A-T |
c.9970A>T |
p.N3324Y |
Missense |
61/82 |
- |
1 |
7-21828909-A-C |
c.9975A>C |
p.L3325F |
Missense |
61/82 |
- |
1 |
7-21828909-A-T |
c.9975A>T |
p.L3325F |
Missense |
61/82 |
- |
1 |
7-21828913-C-A |
c.9979C>A |
p.L3327M |
Missense |
61/82 |
- |
1 |
7-21828938-A-T |
c.10004A>T |
p.E3335V |
Missense |
61/82 |
- |
1 |
7-21828940-G-T |
c.10006G>T |
p.A3336S |
Missense |
61/82 |
- |
2 |
7-21828941-C-T |
c.10007C>T |
p.A3336V |
Missense |
61/82 |
- |
1 |
7-21828942-T-A |
c.10008T>A |
p.A3336= |
Synonymous |
61/82 |
- |
1 |
7-21828942-T-C |
c.10008T>C |
p.A3336= |
Synonymous |
61/82 |
- |
1 |
7-21828942-T-G |
c.10008T>G |
p.A3336= |
Synonymous |
61/82 |
- |
1 |
7-21828945-C-T |
c.10011C>T |
p.I3337= |
Synonymous |
61/82 |
- |
1 |
7-21828946-A-T |
c.10012A>T |
p.R3338W |
Missense |
61/82 |
- |
1 |
7-21828948-G-A |
c.10014G>A |
p.R3338= |
Synonymous |
61/82 |
- |
1 |
7-21828953-A-C |
c.10019A>C |
p.K3340T |
Missense |
61/82 |
- |
1 |
7-21829128-TGC-T |
c.10026+168_10026+169del |
- |
IntronicDeletion |
- |
61/81 |
1 |
7-21829423-C-T |
c.10026+463C>T |
- |
IntronicSNV |
- |
61/81 |
1 |
7-21830407-G-A |
c.10026+1447G>A |
- |
IntronicSNV |
- |
61/81 |
1 |
7-21831310-G-A |
c.10026+2350G>A |
- |
IntronicSNV |
- |
61/81 |
1 |
7-21839249-C-T |
c.10027-1506C>T |
- |
IntronicSNV |
- |
61/81 |
1 |
7-21840760-G-A |
c.10032G>A |
p.L3344= |
Synonymous |
62/82 |
- |
1 |
7-21840763-T-G |
c.10035T>G |
p.D3345E |
Missense |
62/82 |
- |
1 |
7-21840764-C-T |
c.10036C>T |
p.R3346* |
Nonsense |
62/82 |
- |
4 |
7-21840765-G-A |
c.10037G>A |
p.R3346Q |
Missense |
62/82 |
- |
8 |
7-21840769-T-A |
c.10041T>A |
p.N3347K |
Missense |
62/82 |
- |
1 |
7-21840770-C-T |
c.10042C>T |
p.L3348= |
Synonymous |
62/82 |
- |
1 |
7-21840772-G-A |
c.10044G>A |
p.L3348= |
Synonymous |
62/82 |
- |
1 |
7-21840772-G-C |
c.10044G>C |
p.L3348= |
Synonymous |
62/82 |
- |
1 |
7-21840772-G-T |
c.10044G>T |
p.L3348= |
Synonymous |
62/82 |
- |
1 |
7-21840776-A-T |
c.10048A>T |
p.R3350* |
Nonsense |
62/82 |
- |
1 |
7-21840783-C-A |
c.10055C>A |
p.T3352K |
Missense |
62/82 |
- |
1 |
7-21840783-C-T |
c.10055C>T |
p.T3352M |
Missense |
62/82 |
- |
5 |
7-21840785-G-A |
c.10057G>A |
p.A3353T |
Missense |
62/82 |
- |
3 |
7-21840787-T-A |
c.10059T>A |
p.A3353= |
Synonymous |
62/82 |
- |
3 |
7-21840787-T-C |
c.10059T>C |
p.A3353= |
Synonymous |
62/82 |
- |
3 |
7-21840787-T-G |
c.10059T>G |
p.A3353= |
Synonymous |
62/82 |
- |
3 |
7-21840789-C-T |
c.10061C>T |
p.S3354L |
Missense |
62/82 |
- |
2 |
7-21840792-T-C |
c.10064T>C |
p.F3355S |
Missense |
62/82 |
- |
1 |
7-21840794-G-C |
c.10066G>C |
p.E3356Q |
Missense |
62/82 |
- |
1 |
7-21840803-A-G |
c.10075A>G |
p.T3359A |
Missense |
62/82 |
- |
1 |
7-21840804-CA-TG |
c.10076_10077inv |
p.T3359M |
Missense |
62/82 |
- |
2 |
7-21840809-G-A |
c.10081G>A |
p.E3361K |
Missense |
62/82 |
- |
1 |
7-21840813-A-C |
c.10085A>C |
p.K3362T |
Missense |
62/82 |
- |
1 |
7-21840818-CGG-AGC |
c.10090_10092delinsAGC |
p.R3364S |
Missense |
62/82 |
- |
1 |
7-21840818-C-T |
c.10090C>T |
p.R3364W |
Missense |
62/82 |
- |
3 |
7-21840819-G-T |
c.10091G>T |
p.R3364L |
Missense |
62/82 |
- |
1 |
7-21840821-T-G |
c.10093T>G |
p.C3365G |
Missense |
62/82 |
- |
1 |
7-21840821-TG-AC |
c.10093_10094delinsAC |
p.C3365T |
Missense |
62/82 |
- |
1 |
7-21840822-G-A |
c.10094G>A |
p.C3365Y |
Missense |
62/82 |
- |
1 |
7-21840829-A-G |
c.10101A>G |
p.E3367= |
Synonymous |
62/82 |
- |
1 |
7-21840830-G-T |
c.10102G>T |
p.E3368* |
Nonsense |
62/82 |
- |
1 |
7-21840832-G-A |
c.10104G>A |
p.E3368= |
Synonymous |
62/82 |
- |
2 |
7-21840832-G-C |
c.10104G>C |
p.E3368D |
Missense |
62/82 |
- |
1 |
7-21840839-C-G |
c.10111C>G |
p.Q3371E |
Missense |
62/82 |
- |
1 |
7-21840839-C-T |
c.10111C>T |
p.Q3371* |
Nonsense |
62/82 |
- |
1 |
7-21840845-A-C |
c.10117A>C |
p.N3373H |
Missense |
62/82 |
- |
1 |
7-21840846-A-G |
c.10118A>G |
p.N3373S |
Missense |
62/82 |
- |
1 |
7-21840849-A-G |
c.10121A>G |
p.K3374R |
Missense |
62/82 |
- |
1 |
7-21840856-C-A |
c.10128C>A |
p.I3376= |
Synonymous |
62/82 |
- |
2 |
7-21840856-C-G |
c.10128C>G |
p.I3376M |
Missense |
62/82 |
- |
1 |
7-21840856-C-T |
c.10128C>T |
p.I3376= |
Synonymous |
62/82 |
- |
2 |
7-21840857-A-C |
c.10129A>C |
p.K3377Q |
Missense |
62/82 |
- |
1 |
7-21840867-A-G |
c.10139A>G |
p.N3380S |
Missense |
62/82 |
- |
1 |
7-21840868-C-T |
c.10140C>T |
p.N3380= |
Synonymous |
62/82 |
- |
2 |
7-21840872-C-T |
c.10144C>T |
p.L3382F |
Missense |
62/82 |
- |
2 |
7-21840877-C-G |
c.10149C>G |
p.V3383= |
Synonymous |
62/82 |
- |
1 |
7-21840879-A-C |
c.10151A>C |
p.K3384T |
Missense |
62/82 |
- |
1 |
7-21840881-G-A |
c.10153G>A |
p.E3385K |
Missense |
62/82 |
- |
3 |
7-21840884-C-G |
c.10156C>G |
p.L3386V |
Missense |
62/82 |
- |
4 |
7-21840887-G-C |
c.10159G>C |
p.E3387Q |
Missense |
62/82 |
- |
3 |
7-21840890-G-A |
c.10162G>A |
p.A3388T |
Missense |
62/82 |
- |
1 |
7-21840947-G-A |
c.10165+54G>A |
- |
IntronicSNV |
- |
62/81 |
1 |
7-21840980-T-A |
c.10165+87T>A |
- |
IntronicSNV |
- |
62/81 |
1 |
7-21847457-A-G |
c.10166-44A>G |
- |
IntronicSNV |
- |
62/81 |
6 |
7-21847502-G-A |
c.10167G>A |
p.K3389= |
Synonymous |
63/82 |
- |
2 |
7-21847506-A-G |
c.10171A>G |
p.I3391V |
Missense |
63/82 |
- |
3 |
7-21847506-A-T |
c.10171A>T |
p.I3391F |
Missense |
63/82 |
- |
1 |
7-21847509-C-G |
c.10174C>G |
p.R3392G |
Missense |
63/82 |
- |
1 |
7-21847509-C-T |
c.10174C>T |
p.R3392C |
Missense |
63/82 |
- |
2 |
7-21847510-G-A |
c.10175G>A |
p.R3392H |
Missense |
63/82 |
- |
2 |
7-21847510-G-T |
c.10175G>T |
p.R3392L |
Missense |
63/82 |
- |
1 |
7-21847515-G-C |
c.10180G>C |
p.G3394R |
Missense |
63/82 |
- |
1 |
7-21847516-G-A |
c.10181G>A |
p.G3394D |
Missense |
63/82 |
- |
1 |
7-21847518-C-T |
c.10183C>T |
p.Q3395* |
Nonsense |
63/82 |
- |
2 |
7-21847522-C-T |
c.10187C>T |
p.S3396F |
Missense |
63/82 |
- |
3 |
7-21847523-C-T |
c.10188C>T |
p.S3396= |
Synonymous |
63/82 |
- |
1 |
7-21847526-T-C |
c.10191T>C |
p.I3397= |
Synonymous |
63/82 |
- |
2 |
7-21847537-A-G |
c.10202A>G |
p.E3401G |
Missense |
63/82 |
- |
2 |
7-21847542-C-G |
c.10207C>G |
p.Q3403E |
Missense |
63/82 |
- |
3 |
7-21847543-A-C |
c.10208A>C |
p.Q3403P |
Missense |
63/82 |
- |
1 |
7-21847543-A-G |
c.10208A>G |
p.Q3403R |
Missense |
63/82 |
- |
1 |
7-21847554-C-G |
c.10219C>G |
p.L3407V |
Missense |
63/82 |
- |
1 |
7-21847560-G-A |
c.10225G>A |
p.G3409R |
Missense |
63/82 |
- |
1 |
7-21847563-G-A |
c.10228G>A |
p.D3410N |
Missense |
63/82 |
- |
2 |
7-21847572-C-T |
c.10237C>T |
p.L3413F |
Missense |
63/82 |
- |
1 |
7-21847574-C-T |
c.10239C>T |
p.L3413= |
Synonymous |
63/82 |
- |
1 |
7-21847576-C-G |
c.10241C>G |
p.T3414R |
Missense |
63/82 |
- |
1 |
7-21847576-C-T |
c.10241C>T |
p.T3414M |
Missense |
63/82 |
- |
3 |
7-21847577-G-A |
c.10242G>A |
p.T3414= |
Synonymous |
63/82 |
- |
1 |
7-21847577-G-C |
c.10242G>C |
p.T3414= |
Synonymous |
63/82 |
- |
1 |
7-21847579-C-T |
c.10244C>T |
p.A3415V |
Missense |
63/82 |
- |
3 |
7-21847584-T-C |
c.10249T>C |
p.F3417L |
Missense |
63/82 |
- |
1 |
7-21847584-T-G |
c.10249T>G |
p.F3417V |
Missense |
63/82 |
- |
4 |
7-21847591-C-T |
c.10256C>T |
p.S3419F |
Missense |
63/82 |
- |
3 |
7-21847594-A-C |
c.10259A>C |
p.Y3420S |
Missense |
63/82 |
- |
1 |
7-21847595-C-T |
c.10260C>T |
p.Y3420= |
Synonymous |
63/82 |
- |
2 |
7-21847596-G-A |
c.10261G>A |
p.V3421I |
Missense |
63/82 |
- |
1 |
7-21847598-C-A |
c.10263C>A |
p.V3421= |
Synonymous |
63/82 |
- |
2 |
7-21847598-C-G |
c.10263C>G |
p.V3421= |
Synonymous |
63/82 |
- |
2 |
7-21847598-C-T |
c.10263C>T |
p.V3421= |
Synonymous |
63/82 |
- |
2 |
7-21847599-G-A |
c.10264G>A |
p.G3422R |
Missense |
63/82 |
- |
7 |
7-21847599-G-C |
c.10264G>C |
p.G3422R |
Missense |
63/82 |
- |
2 |
7-21847603-C-T |
c.10268C>T |
p.P3423L |
Missense |
63/82 |
- |
2 |
7-21847604-C-CT |
c.10271dup |
p.T3425Hfs*38 |
Frameshift |
63/82 |
- |
1 |
7-21847609-C-A |
c.10274C>A |
p.T3425K |
Missense |
63/82 |
- |
1 |
7-21847615-A-T |
c.10280A>T |
p.Q3427L |
Missense |
63/82 |
- |
1 |
7-21847620-C-A |
c.10285C>A |
p.R3429S |
Missense |
63/82 |
- |
2 |
7-21847620-C-T |
c.10285C>T |
p.R3429C |
Missense |
63/82 |
- |
4 |
7-21847621-G-A |
c.10286G>A |
p.R3429H |
Missense |
63/82 |
- |
2 |
7-21847621-G-T |
c.10286G>T |
p.R3429L |
Missense |
63/82 |
- |
3 |
7-21847621-GC-G |
c.10288del |
p.Q3430Rfs*20 |
Frameshift |
63/82 |
- |
1 |
7-21847624-CA-C |
c.10289del |
p.Q3430Rfs*20 |
Frameshift |
63/82 |
- |
1 |
7-21847630-T-G |
c.10295T>G |
p.L3432R |
Missense |
63/82 |
- |
1 |
7-21847631-G-A |
c.10296G>A |
p.L3432= |
Synonymous |
63/82 |
- |
1 |
7-21847632-G-C |
c.10297G>C |
p.V3433L |
Missense |
63/82 |
- |
1 |
7-21847632-G-T |
c.10297G>T |
p.V3433L |
Missense |
63/82 |
- |
1 |
7-21847634-G-A |
c.10299G>A |
p.V3433= |
Synonymous |
63/82 |
- |
1 |
7-21847634-G-C |
c.10299G>C |
p.V3433= |
Synonymous |
63/82 |
- |
1 |
7-21847634-G-T |
c.10299G>T |
p.V3433= |
Synonymous |
63/82 |
- |
2 |
7-21847636-A-T |
c.10301A>T |
p.H3434L |
Missense |
63/82 |
- |
1 |
7-21847638-T-G |
c.10303T>G |
p.C3435G |
Missense |
63/82 |
- |
1 |
7-21847638-TG-AC |
c.10303_10304delinsAC |
p.C3435T |
Missense |
63/82 |
- |
1 |
7-21847650-C-T |
c.10315C>T |
p.P3439S |
Missense |
63/82 |
- |
1 |
7-21847651-C-T |
c.10316C>T |
p.P3439L |
Missense |
63/82 |
- |
1 |
7-21847659-C-T |
c.10324C>T |
p.Q3442* |
Nonsense |
63/82 |
- |
2 |
7-21847663-A-G |
c.10328A>G |
p.Q3443R |
Missense |
63/82 |
- |
1 |
7-21847663-A-T |
c.10328A>T |
p.Q3443L |
Missense |
63/82 |
- |
1 |
7-21847668-G-A |
c.10332+1G>A |
- |
IntronicSNV |
- |
63/81 |
1 |
7-21848651-ACCAG-A |
c.10332+986_10332+989del |
- |
IntronicDeletion |
- |
63/81 |
1 |
7-21856085-G-A |
c.10333G>A |
p.V3445I |
Missense |
64/82 |
- |
2 |
7-21856091-A-G |
c.10339A>G |
p.I3447V |
Missense |
64/82 |
- |
1 |
7-21856092-T-C |
c.10340T>C |
p.I3447T |
Missense |
64/82 |
- |
1 |
7-21856095-C-A |
c.10343C>A |
p.P3448Q |
Missense |
64/82 |
- |
4 |
7-21856102-C-A |
c.10350C>A |
p.T3450= |
Synonymous |
64/82 |
- |
3 |
7-21856102-C-G |
c.10350C>G |
p.T3450= |
Synonymous |
64/82 |
- |
4 |
7-21856102-C-T |
c.10350C>T |
p.T3450= |
Synonymous |
64/82 |
- |
4 |
7-21856103-G-A |
c.10351G>A |
p.E3451K |
Missense |
64/82 |
- |
4 |
7-21856106-G-C |
c.10354G>C |
p.G3452R |
Missense |
64/82 |
- |
1 |
7-21856107-G-A |
c.10355G>A |
p.G3452D |
Missense |
64/82 |
- |
1 |
7-21856122-C-G |
c.10370C>G |
p.S3457C |
Missense |
64/82 |
- |
1 |
7-21856123-C-T |
c.10371C>T |
p.S3457= |
Synonymous |
64/82 |
- |
1 |
7-21856125-T-A |
c.10373T>A |
p.M3458K |
Missense |
64/82 |
- |
1 |
7-21856131-C-A |
c.10379C>A |
p.T3460K |
Missense |
64/82 |
- |
5 |
7-21856131-C-T |
c.10379C>T |
p.T3460M |
Missense |
64/82 |
- |
2 |
7-21856132-G-A |
c.10380G>A |
p.T3460= |
Synonymous |
64/82 |
- |
3 |
7-21856132-G-C |
c.10380G>C |
p.T3460= |
Synonymous |
64/82 |
- |
2 |
7-21856132-G-T |
c.10380G>T |
p.T3460= |
Synonymous |
64/82 |
- |
2 |
7-21856133-G-C |
c.10381G>C |
p.D3461H |
Missense |
64/82 |
- |
1 |
7-21856135-T-A |
c.10383T>A |
p.D3461E |
Missense |
64/82 |
- |
3 |
7-21856135-T-G |
c.10383T>G |
p.D3461E |
Missense |
64/82 |
- |
3 |
7-21856138-T-C |
c.10386T>C |
p.D3462= |
Synonymous |
64/82 |
- |
1 |
7-21856142-A-G |
c.10390A>G |
p.T3464A |
Missense |
64/82 |
- |
1 |
7-21856143-C-T |
c.10391C>T |
p.T3464I |
Missense |
64/82 |
- |
2 |
7-21856145-A-G |
c.10393A>G |
p.I3465V |
Missense |
64/82 |
- |
1 |
7-21856148-G-A |
c.10396G>A |
p.A3466T |
Missense |
64/82 |
- |
1 |
7-21856149-C-T |
c.10397C>T |
p.A3466V |
Missense |
64/82 |
- |
1 |
7-21856151-G-A |
c.10399G>A |
p.A3467T |
Missense |
64/82 |
- |
31 |
7-21856151-G-T |
c.10399G>T |
p.A3467S |
Missense |
64/82 |
- |
11 |
7-21856153-C-A |
c.10401C>A |
p.A3467= |
Synonymous |
64/82 |
- |
1 |
7-21856153-C-G |
c.10401C>G |
p.A3467= |
Synonymous |
64/82 |
- |
1 |
7-21856153-C-T |
c.10401C>T |
p.A3467= |
Synonymous |
64/82 |
- |
1 |
7-21856158-A-G |
c.10406A>G |
p.N3469S |
Missense |
64/82 |
- |
1 |
7-21856160-A-G |
c.10408A>G |
p.N3470D |
Missense |
64/82 |
- |
1 |
7-21856162-C-G |
c.10410C>G |
p.N3470K |
Missense |
64/82 |
- |
1 |
7-21856163-G-A |
c.10411G>A |
p.E3471K |
Missense |
64/82 |
- |
5 |
7-21856163-G-T |
c.10411G>T |
p.E3471* |
Nonsense |
64/82 |
- |
1 |
7-21856167-G-A |
c.10415G>A |
p.G3472E |
Missense |
64/82 |
- |
1 |
7-21856176-G-A |
c.10424G>A |
p.S3475N |
Missense |
64/82 |
- |
2 |
7-21856175-A-C |
c.10423A>C |
p.S3475R |
Missense |
64/82 |
- |
1 |
7-21856179-A-T |
c.10427A>T |
p.D3476V |
Missense |
64/82 |
- |
1 |
7-21856193-G-A |
c.10441G>A |
p.E3481K |
Missense |
64/82 |
- |
7 |
7-21856200-C-T |
c.10448C>T |
p.A3483V |
Missense |
64/82 |
- |
3 |
7-21856201-C-A |
c.10449C>A |
p.A3483= |
Synonymous |
64/82 |
- |
2 |
7-21856201-C-G |
c.10449C>G |
p.A3483= |
Synonymous |
64/82 |
- |
2 |
7-21856201-C-T |
c.10449C>T |
p.A3483= |
Synonymous |
64/82 |
- |
3 |
7-21856206-T-C |
c.10454T>C |
p.I3485T |
Missense |
64/82 |
- |
1 |
7-21856207-C-A |
c.10455C>A |
p.I3485= |
Synonymous |
64/82 |
- |
1 |
7-21856207-C-T |
c.10455C>T |
p.I3485= |
Synonymous |
64/82 |
- |
2 |
7-21856208-C-A |
c.10456C>A |
p.L3486I |
Missense |
64/82 |
- |
1 |
7-21856220-G-A |
c.10468G>A |
p.E3490K |
Missense |
64/82 |
- |
1 |
7-21856223-C-T |
c.10471C>T |
p.R3491C |
Missense |
64/82 |
- |
3 |
7-21856224-G-A |
c.10472G>A |
p.R3491H |
Missense |
64/82 |
- |
7 |
7-21856232-C-T |
c.10480C>T |
p.L3494= |
Synonymous |
64/82 |
- |
1 |
7-21856234-G-A |
c.10482G>A |
p.L3494= |
Synonymous |
64/82 |
- |
1 |
7-21856234-G-C |
c.10482G>C |
p.L3494= |
Synonymous |
64/82 |
- |
1 |
7-21856234-G-T |
c.10482G>T |
p.L3494= |
Synonymous |
64/82 |
- |
1 |
7-21856240-A-G |
c.10488A>G |
p.I3496M |
Missense |
64/82 |
- |
1 |
7-21856244-C-T |
c.10492C>T |
p.P3498S |
Missense |
64/82 |
- |
2 |
7-21856245-C-T |
c.10493C>T |
p.P3498L |
Missense |
64/82 |
- |
1 |
7-21856246-C-A |
c.10494C>A |
p.P3498= |
Synonymous |
64/82 |
- |
1 |
7-21856247-C-T |
c.10495C>T |
p.Q3499* |
Nonsense |
64/82 |
- |
1 |
7-21856248-A-C |
c.10496A>C |
p.Q3499P |
Missense |
64/82 |
- |
1 |
7-21856256-G-A |
c.10504G>A |
p.G3502R |
Missense |
64/82 |
- |
2 |
7-21856257-G-A |
c.10505G>A |
p.G3502E |
Missense |
64/82 |
- |
5 |
7-21856263-A-C |
c.10511A>C |
p.K3504T |
Missense |
64/82 |
- |
1 |
7-21856264-G-C |
c.10512G>C |
p.K3504N |
Missense |
64/82 |
- |
1 |
7-21856264-G-T |
c.10512G>T |
p.K3504N |
Missense |
64/82 |
- |
1 |
7-21856267-G-T |
c.10515G>T |
p.W3505C |
Missense |
64/82 |
- |
1 |
7-21856273-G-C |
c.10521G>C |
p.K3507N |
Missense |
64/82 |
- |
2 |
7-21856273-G-T |
c.10521G>T |
p.K3507N |
Missense |
64/82 |
- |
2 |
7-21856283-G-A |
c.10531G>A |
p.G3511R |
Missense |
64/82 |
- |
1 |
7-21856286-A-G |
c.10534A>G |
p.M3512V |
Missense |
64/82 |
- |
1 |
7-21856288-G-A |
c.10536G>A |
p.M3512I |
Missense |
64/82 |
- |
3 |
7-21856289-G-A |
c.10537G>A |
p.D3513N |
Missense |
64/82 |
- |
1 |
7-21856293-T-A |
c.10541T>A |
p.L3514Q |
Missense |
64/82 |
- |
1 |
7-21856292-C-T |
c.10540C>T |
p.L3514= |
Synonymous |
64/82 |
- |
1 |
7-21856294-G-A |
c.10542G>A |
p.L3514= |
Synonymous |
64/82 |
- |
2 |
7-21856294-G-C |
c.10542G>C |
p.L3514= |
Synonymous |
64/82 |
- |
1 |
7-21856294-G-T |
c.10542G>T |
p.L3514= |
Synonymous |
64/82 |
- |
1 |
7-21856298-G-A |
c.10546G>A |
p.V3516I |
Missense |
64/82 |
- |
1 |
7-21856304-C-G |
c.10552C>G |
p.H3518D |
Missense |
64/82 |
- |
1 |
7-21856304-C-T |
c.10552C>T |
p.H3518Y |
Missense |
64/82 |
- |
1 |
7-21856305-A-G |
c.10553A>G |
p.H3518R |
Missense |
64/82 |
- |
1 |
7-21856309-G-A |
c.10557G>A |
p.L3519= |
Synonymous |
64/82 |
- |
2 |
7-21856310-G-A |
c.10558G>A |
p.G3520S |
Missense |
64/82 |
- |
1 |
7-21856310-G-T |
c.10558G>T |
p.G3520C |
Missense |
64/82 |
- |
1 |
7-21856315-G-A |
c.10563G>A |
p.Q3521= |
Synonymous |
64/82 |
- |
4 |
7-21856321-G-A |
c.10568+1G>A |
- |
IntronicSNV |
- |
64/81 |
1 |
7-21856390-G-A |
c.10568+70G>A |
- |
IntronicSNV |
- |
64/81 |
3 |
7-21857776-A-T |
c.10569-59A>T |
- |
IntronicSNV |
- |
64/81 |
3 |
7-21857833-A-G |
c.10569-2A>G |
- |
IntronicSNV |
- |
64/81 |
1 |
7-21857835-G-T |
c.10569G>T |
p.G3523= |
Synonymous |
65/82 |
- |
1 |
7-21857838-T-G |
c.10572T>G |
p.F3524L |
Missense |
65/82 |
- |
1 |
7-21857841-G-C |
c.10575G>C |
p.L3525F |
Missense |
65/82 |
- |
1 |
7-21857845-G-A |
c.10579G>A |
p.A3527T |
Missense |
65/82 |
- |
2 |
7-21857849-T-C |
c.10583T>C |
p.I3528T |
Missense |
65/82 |
- |
1 |
7-21857857-G-A |
c.10591G>A |
p.A3531T |
Missense |
65/82 |
- |
1 |
7-21857859-T-A |
c.10593T>A |
p.A3531= |
Synonymous |
65/82 |
- |
1 |
7-21857862-G-C |
c.10596G>C |
p.L3532F |
Missense |
65/82 |
- |
3 |
7-21857862-G-T |
c.10596G>T |
p.L3532F |
Missense |
65/82 |
- |
2 |
7-21857864-C-G |
c.10598C>G |
p.A3533G |
Missense |
65/82 |
- |
1 |
7-21857865-C-T |
c.10599C>T |
p.A3533= |
Synonymous |
65/82 |
- |
1 |
7-21857868-T-C |
c.10602T>C |
p.F3534= |
Synonymous |
65/82 |
- |
1 |
7-21857870-G-A |
c.10604G>A |
p.G3535D |
Missense |
65/82 |
- |
1 |
7-21857876-T-C |
c.10610T>C |
p.V3537A |
Missense |
65/82 |
- |
1 |
7-21857878-A-T |
c.10612A>T |
p.I3538F |
Missense |
65/82 |
- |
1 |
7-21857880-C-T |
c.10614C>T |
p.I3538= |
Synonymous |
65/82 |
- |
1 |
7-21857884-A-G |
c.10618A>G |
p.I3540V |
Missense |
65/82 |
- |
1 |
7-21857887-G-A |
c.10621G>A |
p.E3541K |
Missense |
65/82 |
- |
1 |
7-21857893-C-A |
c.10627C>A |
p.L3543I |
Missense |
65/82 |
- |
1 |
7-21857893-C-G |
c.10627C>G |
p.L3543V |
Missense |
65/82 |
- |
1 |
7-21857893-C-T |
c.10627C>T |
p.L3543F |
Missense |
65/82 |
- |
2 |
7-21857895-C-A |
c.10629C>A |
p.L3543= |
Synonymous |
65/82 |
- |
1 |
7-21857895-C-G |
c.10629C>G |
p.L3543= |
Synonymous |
65/82 |
- |
1 |
7-21857895-C-T |
c.10629C>T |
p.L3543= |
Synonymous |
65/82 |
- |
2 |
7-21857896-G-A |
c.10630G>A |
p.E3544K |
Missense |
65/82 |
- |
1 |
7-21857897-A-G |
c.10631A>G |
p.E3544G |
Missense |
65/82 |
- |
1 |
7-21857898-G-T |
c.10632G>T |
p.E3544D |
Missense |
65/82 |
- |
1 |
7-21857901-A-T |
c.10635A>T |
p.E3545D |
Missense |
65/82 |
- |
1 |
7-21857902-A-C |
c.10636A>C |
p.T3546P |
Missense |
65/82 |
- |
1 |
7-21857903-C-T |
c.10637C>T |
p.T3546M |
Missense |
65/82 |
- |
4 |
7-21857904-G-A |
c.10638G>A |
p.T3546= |
Synonymous |
65/82 |
- |
3 |
7-21857905-A-C |
c.10639A>C |
p.I3547L |
Missense |
65/82 |
- |
1 |
7-21857905-A-G |
c.10639A>G |
p.I3547V |
Missense |
65/82 |
- |
1 |
7-21857905-A-T |
c.10639A>T |
p.I3547L |
Missense |
65/82 |
- |
2 |
7-21857907-A-G |
c.10641A>G |
p.I3547M |
Missense |
65/82 |
- |
1 |
7-21857908-G-A |
c.10642G>A |
p.D3548N |
Missense |
65/82 |
- |
1 |
7-21857910-T-C |
c.10644T>C |
p.D3548= |
Synonymous |
65/82 |
- |
1 |
7-21857914-G-C |
c.10648G>C |
p.V3550L |
Missense |
65/82 |
- |
1 |
7-21857917-C-G |
c.10651C>G |
p.L3551V |
Missense |
65/82 |
- |
1 |
7-21857918-T-C |
c.10652T>C |
p.L3551P |
Missense |
65/82 |
- |
1 |
7-21857919-G-T |
c.10653G>T |
p.L3551= |
Synonymous |
65/82 |
- |
1 |
7-21857920-G-A |
c.10654G>A |
p.D3552N |
Missense |
65/82 |
- |
1 |
7-21857920-G-T |
c.10654G>T |
p.D3552Y |
Missense |
65/82 |
- |
1 |
7-21857923-C-G |
c.10657C>G |
p.P3553A |
Missense |
65/82 |
- |
1 |
7-21857929-C-A |
c.10663C>A |
p.L3555I |
Missense |
65/82 |
- |
1 |
7-21857932-G-T |
c.10666G>T |
p.G3556C |
Missense |
65/82 |
- |
1 |
7-21857935-AGG-CAT |
c.10669_10671delinsCAT |
p.R3557H |
Missense |
65/82 |
- |
1 |
7-21857935-A-C |
c.10669A>C |
p.R3557= |
Synonymous |
65/82 |
- |
2 |
7-21857937-G-A |
c.10671G>A |
p.R3557= |
Synonymous |
65/82 |
- |
2 |
7-21857948-A-C |
c.10682A>C |
p.K3561T |
Missense |
65/82 |
- |
1 |
7-21857949-A-AT |
c.10683_10684insT |
p.K3562* |
Nonsense |
65/82 |
- |
1 |
7-21857953-G-A |
c.10687G>A |
p.G3563R |
Missense |
65/82 |
- |
1 |
7-21857953-G-C |
c.10687G>C |
p.G3563R |
Missense |
65/82 |
- |
1 |
7-21857953-GG-AA |
c.10687_10688delinsAA |
p.G3563K |
Missense |
65/82 |
- |
2 |
7-21857957-A-G |
c.10691A>G |
p.K3564R |
Missense |
65/82 |
- |
3 |
7-21857959-T-C |
c.10691+2T>C |
- |
IntronicSNV |
- |
65/81 |
2 |
7-21857959-T-G |
c.10691+2T>G |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21857965-T-C |
c.10691+8T>C |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21858043-A-G |
c.10691+86A>G |
- |
IntronicSNV |
- |
65/81 |
3 |
7-21858180-G-A |
c.10691+223G>A |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21858181-G-A |
c.10691+224G>A |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21858218-G-A |
c.10691+261G>A |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21858218-G-T |
c.10691+261G>T |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21859436-A-C |
c.10691+1479A>C |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21859436-A-T |
c.10691+1479A>T |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21860121-G-A |
c.10691+2164G>A |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21860121-G-C |
c.10691+2164G>C |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21861028-G-A |
c.10691+3071G>A |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21861028-G-C |
c.10691+3071G>C |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21861103-A-C |
c.10691+3146A>C |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21861103-A-G |
c.10691+3146A>G |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21861112-C-T |
c.10691+3155C>T |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21861132-C-A |
c.10691+3175C>A |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21861211-A-T |
c.10691+3254A>T |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21862891-TC-T |
c.10691+4940del |
- |
IntronicDeletion |
- |
65/81 |
1 |
7-21863203-C-A |
c.10691+5246C>A |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21867898-T-C |
c.10691+9941T>C |
- |
IntronicSNV |
- |
65/81 |
1 |
7-21868356-CT-C |
c.10691+10409del |
- |
IntronicDeletion |
- |
65/81 |
1 |
7-21882164-A-T |
c.10694A>T |
p.Y3565F |
Missense |
66/82 |
- |
1 |
7-21882167-T-A |
c.10697T>A |
p.I3566N |
Missense |
66/82 |
- |
1 |
7-21882168-C-T |
c.10698C>T |
p.I3566= |
Synonymous |
66/82 |
- |
1 |
7-21882170-G-A |
c.10700G>A |
p.R3567K |
Missense |
66/82 |
- |
4 |
7-21882171-G-C |
c.10701G>C |
p.R3567S |
Missense |
66/82 |
- |
5 |
7-21882171-G-T |
c.10701G>T |
p.R3567S |
Missense |
66/82 |
- |
5 |
7-21882173-T-A |
c.10703T>A |
p.I3568N |
Missense |
66/82 |
- |
2 |
7-21882175-G-C |
c.10705G>C |
p.G3569R |
Missense |
66/82 |
- |
1 |
7-21882177-A-C |
c.10707A>C |
p.G3569= |
Synonymous |
66/82 |
- |
1 |
7-21882177-A-G |
c.10707A>G |
p.G3569= |
Synonymous |
66/82 |
- |
1 |
7-21882177-A-T |
c.10707A>T |
p.G3569= |
Synonymous |
66/82 |
- |
1 |
7-21882181-A-G |
c.10711A>G |
p.K3571E |
Missense |
66/82 |
- |
2 |
7-21882182-A-C |
c.10712A>C |
p.K3571T |
Missense |
66/82 |
- |
1 |
7-21882184-G-A |
c.10714G>A |
p.E3572K |
Missense |
66/82 |
- |
2 |
7-21882184-G-T |
c.10714G>T |
p.E3572* |
Nonsense |
66/82 |
- |
4 |
7-21882185-A-C |
c.10715A>C |
p.E3572A |
Missense |
66/82 |
- |
1 |
7-21882185-A-G |
c.10715A>G |
p.E3572G |
Missense |
66/82 |
- |
1 |
7-21882188-G-A |
c.10718G>A |
p.C3573Y |
Missense |
66/82 |
- |
1 |
7-21882190-G-A |
c.10720G>A |
p.E3574K |
Missense |
66/82 |
- |
2 |
7-21882194-T-A |
c.10724T>A |
p.F3575Y |
Missense |
66/82 |
- |
1 |
7-21882201-G-C |
c.10731G>C |
p.K3577N |
Missense |
66/82 |
- |
1 |
7-21882201-G-T |
c.10731G>T |
p.K3577N |
Missense |
66/82 |
- |
1 |
7-21882205-T-A |
c.10735T>A |
p.F3579I |
Missense |
66/82 |
- |
1 |
7-21882205-T-G |
c.10735T>G |
p.F3579V |
Missense |
66/82 |
- |
2 |
7-21882208-C-T |
c.10738C>T |
p.R3580C |
Missense |
66/82 |
- |
4 |
7-21882209-G-A |
c.10739G>A |
p.R3580H |
Missense |
66/82 |
- |
12 |
7-21882210-C-G |
c.10740C>G |
p.R3580= |
Synonymous |
66/82 |
- |
1 |
7-21882211-C-A |
c.10741C>A |
p.L3581I |
Missense |
66/82 |
- |
1 |
7-21882216-C-G |
c.10746C>G |
p.I3582M |
Missense |
66/82 |
- |
1 |
7-21882220-C-A |
c.10750C>A |
p.H3584N |
Missense |
66/82 |
- |
1 |
7-21882226-A-G |
c.10756A>G |
p.K3586E |
Missense |
66/82 |
- |
1 |
7-21882228-A-T |
c.10758A>T |
p.K3586N |
Missense |
66/82 |
- |
1 |
7-21882229-T-G |
c.10759T>G |
p.L3587V |
Missense |
66/82 |
- |
1 |
7-21882238-C-G |
c.10768C>G |
p.P3590A |
Missense |
66/82 |
- |
1 |
7-21882244-T-C |
c.10774T>C |
p.Y3592H |
Missense |
66/82 |
- |
4 |
7-21882245-A-G |
c.10775A>G |
p.Y3592C |
Missense |
66/82 |
- |
2 |
7-21882249-G-A |
c.10779G>A |
p.K3593= |
Synonymous |
66/82 |
- |
2 |
7-21882249-G-C |
c.10779G>C |
p.K3593N |
Missense |
66/82 |
- |
1 |
7-21882249-G-T |
c.10779G>T |
p.K3593N |
Missense |
66/82 |
- |
1 |
7-21882252-G-A |
c.10782G>A |
p.P3594= |
Synonymous |
66/82 |
- |
2 |
7-21882253-G-A |
c.10783G>A |
p.E3595K |
Missense |
66/82 |
- |
7 |
7-21882259-C-T |
c.10789C>T |
p.Q3597* |
Nonsense |
66/82 |
- |
1 |
7-21882266-A-G |
c.10796A>G |
p.Q3599R |
Missense |
66/82 |
- |
1 |
7-21882269-C-T |
c.10799C>T |
p.T3600I |
Missense |
66/82 |
- |
1 |
7-21882272-C-T |
c.10802C>T |
p.T3601I |
Missense |
66/82 |
- |
2 |
7-21882282-T-A |
c.10812T>A |
p.N3604K |
Missense |
66/82 |
- |
3 |
7-21882287-C-A |
c.10817C>A |
p.T3606K |
Missense |
66/82 |
- |
1 |
7-21882287-C-T |
c.10817C>T |
p.T3606I |
Missense |
66/82 |
- |
1 |
7-21882295-G-A |
c.10825G>A |
p.E3609K |
Missense |
66/82 |
- |
1 |
7-21882299-A-T |
c.10829A>T |
p.D3610V |
Missense |
66/82 |
- |
3 |
7-21882301-G-A |
c.10831G>A |
p.G3611S |
Missense |
66/82 |
- |
1 |
7-21882303-T-A |
c.10833T>A |
p.G3611= |
Synonymous |
66/82 |
- |
1 |
7-21882304-C-A |
c.10834C>A |
p.L3612I |
Missense |
66/82 |
- |
1 |
7-21882304-C-T |
c.10834C>T |
p.L3612= |
Synonymous |
66/82 |
- |
2 |
7-21882306-A-C |
c.10836A>C |
p.L3612= |
Synonymous |
66/82 |
- |
1 |
7-21882306-A-G |
c.10836A>G |
p.L3612= |
Synonymous |
66/82 |
- |
1 |
7-21882306-A-T |
c.10836A>T |
p.L3612= |
Synonymous |
66/82 |
- |
1 |
7-21882311-C-A |
c.10841C>A |
p.A3614D |
Missense |
66/82 |
- |
1 |
7-21882311-C-T |
c.10841C>T |
p.A3614V |
Missense |
66/82 |
- |
1 |
7-21882319-C-T |
c.10849C>T |
p.L3617= |
Synonymous |
66/82 |
- |
2 |
7-21882321-G-A |
c.10851G>A |
p.L3617= |
Synonymous |
66/82 |
- |
2 |
7-21882321-G-C |
c.10851G>C |
p.L3617= |
Synonymous |
66/82 |
- |
2 |
7-21882321-G-T |
c.10851G>T |
p.L3617= |
Synonymous |
66/82 |
- |
2 |
7-21882325-G-A |
c.10855G>A |
p.E3619K |
Missense |
66/82 |
- |
1 |
7-21882327-G-C |
c.10857G>C |
p.E3619D |
Missense |
66/82 |
- |
1 |
7-21882328-G-A |
c.10858G>A |
p.V3620I |
Missense |
66/82 |
- |
1 |
7-21882334-A-G |
c.10864A>G |
p.S3622G |
Missense |
66/82 |
- |
1 |
7-21882334-A-C |
c.10864A>C |
p.S3622R |
Missense |
66/82 |
- |
1 |
7-21882337-A-G |
c.10867A>G |
p.I3623V |
Missense |
66/82 |
- |
1 |
7-21882347-C-A |
c.10877C>A |
p.P3626Q |
Missense |
66/82 |
- |
3 |
7-21882348-A-C |
c.10878A>C |
p.P3626= |
Synonymous |
66/82 |
- |
1 |
7-21882348-A-G |
c.10878A>G |
p.P3626= |
Synonymous |
66/82 |
- |
1 |
7-21882348-A-T |
c.10878A>T |
p.P3626= |
Synonymous |
66/82 |
- |
1 |
7-21882350-AT-A |
c.10883del |
p.L3628Wfs*8 |
Frameshift |
66/82 |
- |
1 |
7-21882358-A-T |
c.10888A>T |
p.K3630* |
Nonsense |
66/82 |
- |
1 |
7-21882362-T-G |
c.10892T>G |
p.L3631R |
Missense |
66/82 |
- |
2 |
7-21882424-A-G |
c.10896+58A>G |
- |
IntronicSNV |
- |
66/81 |
5 |
7-21882430-A-G |
c.10896+64A>G |
- |
IntronicSNV |
- |
66/81 |
1 |
7-21882561-C-T |
c.10896+195C>T |
- |
IntronicSNV |
- |
66/81 |
2 |
7-21882562-C-T |
c.10896+196C>T |
- |
IntronicSNV |
- |
66/81 |
1 |
7-21882591-C-G |
c.10896+225C>G |
- |
IntronicSNV |
- |
66/81 |
2 |
7-21884455-T-A |
c.10896+2089T>A |
- |
IntronicSNV |
- |
66/81 |
1 |
7-21884455-T-G |
c.10896+2089T>G |
- |
IntronicSNV |
- |
66/81 |
1 |
7-21891287-C-G |
c.10897-798C>G |
- |
IntronicSNV |
- |
66/81 |
1 |
7-21891287-C-T |
c.10897-798C>T |
- |
IntronicSNV |
- |
66/81 |
1 |
7-21891451-A-G |
c.10897-634A>G |
- |
IntronicSNV |
- |
66/81 |
1 |
7-21891451-A-T |
c.10897-634A>T |
- |
IntronicSNV |
- |
66/81 |
1 |
7-21892087-G-T |
c.10899G>T |
p.L3633F |
Missense |
67/82 |
- |
1 |
7-21892091-T-C |
c.10903T>C |
p.L3635= |
Synonymous |
67/82 |
- |
1 |
7-21892104-A-C |
c.10916A>C |
p.Q3639P |
Missense |
67/82 |
- |
1 |
7-21892109-G-A |
c.10921G>A |
p.D3641N |
Missense |
67/82 |
- |
3 |
7-21892114-T-C |
c.10926T>C |
p.F3642= |
Synonymous |
67/82 |
- |
1 |
7-21892114-T-G |
c.10926T>G |
p.F3642L |
Missense |
67/82 |
- |
2 |
7-21892117-A-C |
c.10929A>C |
p.K3643N |
Missense |
67/82 |
- |
1 |
7-21892120-T-G |
c.10932T>G |
p.I3644M |
Missense |
67/82 |
- |
1 |
7-21892125-T-C |
c.10937T>C |
p.L3646P |
Missense |
67/82 |
- |
1 |
7-21892136-G-A |
c.10948G>A |
p.E3650K |
Missense |
67/82 |
- |
2 |
7-21892136-G-T |
c.10948G>T |
p.E3650* |
Nonsense |
67/82 |
- |
1 |
7-21892141-C-T |
c.10953C>T |
p.D3651= |
Synonymous |
67/82 |
- |
1 |
7-21892142-G-A |
c.10954G>A |
p.D3652N |
Missense |
67/82 |
- |
6 |
7-21892145-C-G |
c.10957C>G |
p.L3653V |
Missense |
67/82 |
- |
1 |
7-21892146-T-C |
c.10958T>C |
p.L3653P |
Missense |
67/82 |
- |
1 |
7-21892148-C-T |
c.10960C>T |
p.L3654F |
Missense |
67/82 |
- |
2 |
7-21892154-C-T |
c.10966C>T |
p.R3656C |
Missense |
67/82 |
- |
2 |
7-21892155-G-A |
c.10967G>A |
p.R3656H |
Missense |
67/82 |
- |
5 |
7-21892164-C-A |
c.10976C>A |
p.A3659E |
Missense |
67/82 |
- |
1 |
7-21892164-C-T |
c.10976C>T |
p.A3659V |
Missense |
67/82 |
- |
4 |
7-21892165-G-A |
c.10977G>A |
p.A3659= |
Synonymous |
67/82 |
- |
2 |
7-21892166-G-C |
c.10978G>C |
p.A3660P |
Missense |
67/82 |
- |
1 |
7-21892169-G-A |
c.10981G>A |
p.E3661K |
Missense |
67/82 |
- |
2 |
7-21892172-G-A |
c.10984G>A |
p.G3662R |
Missense |
67/82 |
- |
1 |
7-21892173-G-A |
c.10985G>A |
p.G3662E |
Missense |
67/82 |
- |
2 |
7-21892176-G-A |
c.10988G>A |
p.S3663N |
Missense |
67/82 |
- |
1 |
7-21892177-C-T |
c.10989C>T |
p.S3663= |
Synonymous |
67/82 |
- |
1 |
7-21892178-T-G |
c.10990T>G |
p.F3664V |
Missense |
67/82 |
- |
1 |
7-21892188-A-G |
c.11000A>G |
p.D3667G |
Missense |
67/82 |
- |
1 |
7-21892190-A-G |
c.11002A>G |
p.T3668A |
Missense |
67/82 |
- |
1 |
7-21892202-G-A |
c.11014G>A |
p.E3672K |
Missense |
67/82 |
- |
1 |
7-21892202-G-C |
c.11014G>C |
p.E3672Q |
Missense |
67/82 |
- |
1 |
7-21892206-G-A |
c.11018G>A |
p.R3673K |
Missense |
67/82 |
- |
3 |
7-21892206-G-C |
c.11018G>C |
p.R3673T |
Missense |
67/82 |
- |
1 |
7-21892212-A-G |
c.11024A>G |
p.E3675G |
Missense |
67/82 |
- |
2 |
7-21892213-G-A |
c.11025G>A |
p.E3675= |
Synonymous |
67/82 |
- |
2 |
7-21892213-G-C |
c.11025G>C |
p.E3675D |
Missense |
67/82 |
- |
1 |
7-21892213-G-T |
c.11025G>T |
p.E3675D |
Missense |
67/82 |
- |
1 |
7-21892217-A-G |
c.11029A>G |
p.T3677A |
Missense |
67/82 |
- |
1 |
7-21892222-G-C |
c.11034G>C |
p.K3678N |
Missense |
67/82 |
- |
1 |
7-21892227-C-T |
c.11039C>T |
p.T3680I |
Missense |
67/82 |
- |
1 |
7-21892228-C-A |
c.11040C>A |
p.T3680= |
Synonymous |
67/82 |
- |
1 |
7-21892228-C-G |
c.11040C>G |
p.T3680= |
Synonymous |
67/82 |
- |
1 |
7-21892228-C-T |
c.11040C>T |
p.T3680= |
Synonymous |
67/82 |
- |
1 |
7-21892229-G-A |
c.11041G>A |
p.V3681M |
Missense |
67/82 |
- |
3 |
7-21892230-T-C |
c.11042T>C |
p.V3681A |
Missense |
67/82 |
- |
1 |
7-21892232-G-A |
c.11044G>A |
p.A3682T |
Missense |
67/82 |
- |
1 |
7-21892238-A-G |
c.11050A>G |
p.I3684V |
Missense |
67/82 |
- |
1 |
7-21892240-A-G |
c.11052A>G |
p.I3684M |
Missense |
67/82 |
- |
1 |
7-21892246-C-A |
c.11058C>A |
p.H3686Q |
Missense |
67/82 |
- |
1 |
7-21892247-A-G |
c.11059A>G |
p.K3687E |
Missense |
67/82 |
- |
1 |
7-21892249-G-A |
c.11061G>A |
p.K3687= |
Synonymous |
67/82 |
- |
2 |
7-21892250-G-A |
c.11061+1G>A |
- |
IntronicSNV |
- |
67/81 |
1 |
7-21892321-G-A |
c.11061+72G>A |
- |
IntronicSNV |
- |
67/81 |
3 |
7-21892416-G-A |
c.11061+167G>A |
- |
IntronicSNV |
- |
67/81 |
2 |
7-21892417-G-A |
c.11061+168G>A |
- |
IntronicSNV |
- |
67/81 |
1 |
7-21893711-G-A |
c.11062-222G>A |
- |
IntronicSNV |
- |
67/81 |
2 |
7-21893933-G-A |
c.11062G>A |
p.V3688M |
Missense |
68/82 |
- |
3 |
7-21893939-G-A |
c.11068G>A |
p.E3690K |
Missense |
68/82 |
- |
1 |
7-21893941-A-G |
c.11070A>G |
p.E3690= |
Synonymous |
68/82 |
- |
1 |
7-21893944-C-T |
c.11073C>T |
p.A3691= |
Synonymous |
68/82 |
- |
1 |
7-21893945-A-G |
c.11074A>G |
p.K3692E |
Missense |
68/82 |
- |
1 |
7-21893949-A-G |
c.11078A>G |
p.E3693G |
Missense |
68/82 |
- |
1 |
7-21893950-A-T |
c.11079A>T |
p.E3693D |
Missense |
68/82 |
- |
2 |
7-21893952-A-T |
c.11081A>T |
p.N3694I |
Missense |
68/82 |
- |
2 |
7-21893953-T-C |
c.11082T>C |
p.N3694= |
Synonymous |
68/82 |
- |
1 |
7-21893954-G-A |
c.11083G>A |
p.E3695K |
Missense |
68/82 |
- |
7 |
7-21893955-A-C |
c.11084A>C |
p.E3695A |
Missense |
68/82 |
- |
2 |
7-21893955-A-G |
c.11084A>G |
p.E3695G |
Missense |
68/82 |
- |
1 |
7-21893956-A-C |
c.11085A>C |
p.E3695D |
Missense |
68/82 |
- |
1 |
7-21893956-A-T |
c.11085A>T |
p.E3695D |
Missense |
68/82 |
- |
1 |
7-21893966-A-G |
c.11095A>G |
p.N3699D |
Missense |
68/82 |
- |
1 |
7-21893967-A-C |
c.11096A>C |
p.N3699T |
Missense |
68/82 |
- |
1 |
7-21893967-A-G |
c.11096A>G |
p.N3699S |
Missense |
68/82 |
- |
1 |
7-21893967-A-T |
c.11096A>T |
p.N3699I |
Missense |
68/82 |
- |
1 |
7-21893969-G-C |
c.11098G>C |
p.E3700Q |
Missense |
68/82 |
- |
1 |
7-21893969-G-T |
c.11098G>T |
p.E3700* |
Nonsense |
68/82 |
- |
1 |
7-21893971-G-C |
c.11100G>C |
p.E3700D |
Missense |
68/82 |
- |
2 |
7-21893971-G-T |
c.11100G>T |
p.E3700D |
Missense |
68/82 |
- |
2 |
7-21893972-G-T |
c.11101G>T |
p.A3701S |
Missense |
68/82 |
- |
3 |
7-21893975-C-G |
c.11104C>G |
p.R3702G |
Missense |
68/82 |
- |
1 |
7-21893976-G-A |
c.11105G>A |
p.R3702Q |
Missense |
68/82 |
- |
3 |
7-21893978-G-C |
c.11107G>C |
p.E3703Q |
Missense |
68/82 |
- |
1 |
7-21893981-T-C |
c.11110T>C |
p.C3704R |
Missense |
68/82 |
- |
1 |
7-21893986-C-T |
c.11115C>T |
p.Y3705= |
Synonymous |
68/82 |
- |
1 |
7-21893987-AGA-TGG |
c.11116_11118delinsTGG |
p.R3706W |
Missense |
68/82 |
- |
1 |
7-21893991-C-T |
c.11120C>T |
p.P3707L |
Missense |
68/82 |
- |
3 |
7-21893993-G-C |
c.11122G>C |
p.V3708L |
Missense |
68/82 |
- |
17 |
7-21893993-G-T |
c.11122G>T |
p.V3708L |
Missense |
68/82 |
- |
40 |
7-21893995-G-A |
c.11124G>A |
p.V3708= |
Synonymous |
68/82 |
- |
2 |
7-21893995-G-C |
c.11124G>C |
p.V3708= |
Synonymous |
68/82 |
- |
2 |
7-21893995-G-T |
c.11124G>T |
p.V3708= |
Synonymous |
68/82 |
- |
2 |
7-21894001-A-C |
c.11130A>C |
p.A3710= |
Synonymous |
68/82 |
- |
3 |
7-21894003-G-C |
c.11132G>C |
p.R3711T |
Missense |
68/82 |
- |
1 |
7-21894014-C-A |
c.11143C>A |
p.L3715I |
Missense |
68/82 |
- |
1 |
7-21894014-C-G |
c.11143C>G |
p.L3715V |
Missense |
68/82 |
- |
3 |
7-21894015-T-C |
c.11144T>C |
p.L3715P |
Missense |
68/82 |
- |
2 |
7-21894018-A-T |
c.11147A>T |
p.Y3716F |
Missense |
68/82 |
- |
1 |
7-21894027-T-C |
c.11156T>C |
p.I3719T |
Missense |
68/82 |
- |
4 |
7-21894029-A-G |
c.11158A>G |
p.N3720D |
Missense |
68/82 |
- |
1 |
7-21894029-A-T |
c.11158A>T |
p.N3720Y |
Missense |
68/82 |
- |
1 |
7-21894032-G-T |
c.11161G>T |
p.D3721Y |
Missense |
68/82 |
- |
1 |
7-21894035-C-T |
c.11164C>T |
p.L3722F |
Missense |
68/82 |
- |
1 |
7-21894038-C-T |
c.11167C>T |
p.Q3723* |
Nonsense |
68/82 |
- |
2 |
7-21894043-A-C |
c.11172A>C |
p.K3724N |
Missense |
68/82 |
- |
1 |
7-21894046-C-T |
c.11175C>T |
p.I3725= |
Synonymous |
68/82 |
- |
2 |
7-21894050-C-A |
c.11179C>A |
p.P3727T |
Missense |
68/82 |
- |
1 |
7-21894053-C-G |
c.11182C>G |
p.L3728V |
Missense |
68/82 |
- |
2 |
7-21894054-T-G |
c.11183T>G |
p.L3728R |
Missense |
68/82 |
- |
1 |
7-21894059-CA-C |
c.11190del |
p.Q3730Hfs*4 |
Frameshift |
68/82 |
- |
1 |
7-21894062-T-C |
c.11191T>C |
p.F3731L |
Missense |
68/82 |
- |
2 |
7-21894064-C-A |
c.11193C>A |
p.F3731L |
Missense |
68/82 |
- |
2 |
7-21894064-C-G |
c.11193C>G |
p.F3731L |
Missense |
68/82 |
- |
3 |
7-21894065-T-C |
c.11194T>C |
p.S3732P |
Missense |
68/82 |
- |
1 |
7-21894068-TTG-ATC |
c.11197_11199delinsATC |
p.L3733I |
Missense |
68/82 |
- |
1 |
7-21894070-G-A |
c.11199G>A |
p.L3733= |
Synonymous |
68/82 |
- |
1 |
7-21894071-A-C |
c.11200A>C |
p.K3734Q |
Missense |
68/82 |
- |
5 |
7-21894080-C-A |
c.11202+7C>A |
- |
IntronicSNV |
- |
68/81 |
5 |
7-21894080-C-G |
c.11202+7C>G |
- |
IntronicSNV |
- |
68/81 |
2 |
7-21894086-G-A |
c.11202+13G>A |
- |
IntronicSNV |
- |
68/81 |
6 |
7-21894119-A-C |
c.11202+46A>C |
- |
IntronicSNV |
- |
68/81 |
1 |
7-21894119-A-G |
c.11202+46A>G |
- |
IntronicSNV |
- |
68/81 |
1 |
7-21894119-A-T |
c.11202+46A>T |
- |
IntronicSNV |
- |
68/81 |
1 |
7-21894133-C-A |
c.11202+60C>A |
- |
IntronicSNV |
- |
68/81 |
2 |
7-21896563-C-T |
c.11202+2490C>T |
- |
IntronicSNV |
- |
68/81 |
1 |
7-21897714-G-A |
c.11202+3641G>A |
- |
IntronicSNV |
- |
68/81 |
1 |
7-21900039-T-C |
c.11203-1432T>C |
- |
IntronicSNV |
- |
68/81 |
1 |
7-21900149-G-A |
c.11203-1322G>A |
- |
IntronicSNV |
- |
68/81 |
1 |
7-21900221-T-A |
c.11203-1250T>A |
- |
IntronicSNV |
- |
68/81 |
1 |
7-21900298-T-G |
c.11203-1173T>G |
- |
IntronicSNV |
- |
68/81 |
1 |
7-21901467-C-A |
c.11203-4C>A |
- |
IntronicSNV |
- |
68/81 |
1 |
7-21901467-C-G |
c.11203-4C>G |
- |
IntronicSNV |
- |
68/81 |
1 |
7-21901467-C-T |
c.11203-4C>T |
- |
IntronicSNV |
- |
68/81 |
1 |
7-21901472-C-T |
c.11204C>T |
p.A3735V |
Missense |
69/82 |
- |
1 |
7-21901479-C-G |
c.11211C>G |
p.N3737K |
Missense |
69/82 |
- |
1 |
7-21901479-C-T |
c.11211C>T |
p.N3737= |
Synonymous |
69/82 |
- |
1 |
7-21901480-G-A |
c.11212G>A |
p.V3738M |
Missense |
69/82 |
- |
5 |
7-21901486-T-C |
c.11218T>C |
p.F3740L |
Missense |
69/82 |
- |
1 |
7-21901488-C-A |
c.11220C>A |
p.F3740L |
Missense |
69/82 |
- |
1 |
7-21901488-C-G |
c.11220C>G |
p.F3740L |
Missense |
69/82 |
- |
1 |
7-21901488-CC-AA |
c.11220_11221delinsAA |
p.F3740_H3741delinsLN |
MultiAAMissense |
69/82 |
- |
1 |
7-21901495-G-A |
c.11227G>A |
p.A3743T |
Missense |
69/82 |
- |
3 |
7-21901500-C-A |
c.11232C>A |
p.I3744= |
Synonymous |
69/82 |
- |
4 |
7-21901500-C-G |
c.11232C>G |
p.I3744M |
Missense |
69/82 |
- |
1 |
7-21901500-C-T |
c.11232C>T |
p.I3744= |
Synonymous |
69/82 |
- |
6 |
7-21901501-G-A |
c.11233G>A |
p.E3745K |
Missense |
69/82 |
- |
6 |
7-21901510-G-C |
c.11242G>C |
p.D3748H |
Missense |
69/82 |
- |
1 |
7-21901516-G-A |
c.11248G>A |
p.V3750M |
Missense |
69/82 |
- |
1 |
7-21901517-T-G |
c.11249T>G |
p.V3750G |
Missense |
69/82 |
- |
2 |
7-21901519-G-A |
c.11251G>A |
p.E3751K |
Missense |
69/82 |
- |
5 |
7-21901519-G-T |
c.11251G>T |
p.E3751* |
Nonsense |
69/82 |
- |
1 |
7-21901527-G-A |
c.11259G>A |
p.M3753I |
Missense |
69/82 |
- |
1 |
7-21901527-G-T |
c.11259G>T |
p.M3753I |
Missense |
69/82 |
- |
1 |
7-21901529-A-T |
c.11261A>T |
p.Q3754L |
Missense |
69/82 |
- |
1 |
7-21901534-C-G |
c.11266C>G |
p.R3756G |
Missense |
69/82 |
- |
2 |
7-21901534-C-T |
c.11266C>T |
p.R3756C |
Missense |
69/82 |
- |
1 |
7-21901535-G-A |
c.11267G>A |
p.R3756H |
Missense |
69/82 |
- |
2 |
7-21901535-G-T |
c.11267G>T |
p.R3756L |
Missense |
69/82 |
- |
2 |
7-21901538-T-A |
c.11270T>A |
p.I3757N |
Missense |
69/82 |
- |
1 |
7-21901539-C-A |
c.11271C>A |
p.I3757= |
Synonymous |
69/82 |
- |
2 |
7-21901539-C-T |
c.11271C>T |
p.I3757= |
Synonymous |
69/82 |
- |
1 |
7-21901540-T-C |
c.11272T>C |
p.S3758P |
Missense |
69/82 |
- |
12 |
7-21901542-T-A |
c.11274T>A |
p.S3758= |
Synonymous |
69/82 |
- |
2 |
7-21901542-T-C |
c.11274T>C |
p.S3758= |
Synonymous |
69/82 |
- |
2 |
7-21901542-T-G |
c.11274T>G |
p.S3758= |
Synonymous |
69/82 |
- |
2 |
7-21901543-A-G |
c.11275A>G |
p.I3759V |
Missense |
69/82 |
- |
1 |
7-21901545-C-G |
c.11277C>G |
p.I3759M |
Missense |
69/82 |
- |
1 |
7-21901547-T-C |
c.11279T>C |
p.L3760P |
Missense |
69/82 |
- |
1 |
7-21901551-G-A |
c.11283G>A |
p.M3761I |
Missense |
69/82 |
- |
1 |
7-21901559-T-A |
c.11291T>A |
p.I3764N |
Missense |
69/82 |
- |
1 |
7-21901560-C-A |
c.11292C>A |
p.I3764= |
Synonymous |
69/82 |
- |
1 |
7-21901563-C-G |
c.11295C>G |
p.T3765= |
Synonymous |
69/82 |
- |
1 |
7-21901564-C-G |
c.11296C>G |
p.H3766D |
Missense |
69/82 |
- |
2 |
7-21901566-T-A |
c.11298T>A |
p.H3766Q |
Missense |
69/82 |
- |
11 |
7-21901566-T-C |
c.11298T>C |
p.H3766= |
Synonymous |
69/82 |
- |
23 |
7-21901567-G-A |
c.11299G>A |
p.A3767T |
Missense |
69/82 |
- |
2 |
7-21901581-C-A |
c.11313C>A |
p.Y3771* |
Nonsense |
69/82 |
- |
1 |
7-21901583-C-T |
c.11315C>T |
p.T3772I |
Missense |
69/82 |
- |
1 |
7-21901592-C-T |
c.11324C>T |
p.A3775V |
Missense |
69/82 |
- |
1 |
7-21901593-G-A |
c.11325G>A |
p.A3775= |
Synonymous |
69/82 |
- |
11 |
7-21901593-G-C |
c.11325G>C |
p.A3775= |
Synonymous |
69/82 |
- |
7 |
7-21901593-G-T |
c.11325G>T |
p.A3775= |
Synonymous |
69/82 |
- |
2 |
7-21901595-T-C |
c.11327T>C |
p.L3776P |
Missense |
69/82 |
- |
1 |
7-21901600-G-A |
c.11332G>A |
p.E3778K |
Missense |
69/82 |
- |
1 |
7-21901600-G-T |
c.11332G>T |
p.E3778* |
Nonsense |
69/82 |
- |
1 |
7-21901602-G-A |
c.11334G>A |
p.E3778= |
Synonymous |
69/82 |
- |
2 |
7-21901604-A-G |
c.11336A>G |
p.K3779R |
Missense |
69/82 |
- |
1 |
7-21901605-G-T |
c.11337G>T |
p.K3779N |
Missense |
69/82 |
- |
2 |
7-21901606-G-A |
c.11338G>A |
p.D3780N |
Missense |
69/82 |
- |
5 |
7-21901612-C-A |
c.11344C>A |
p.L3782I |
Missense |
69/82 |
- |
1 |
7-21901615-A-C |
c.11347A>C |
p.T3783P |
Missense |
69/82 |
- |
1 |
7-21901618-T-C |
c.11350T>C |
p.F3784L |
Missense |
69/82 |
- |
1 |
7-21901620-C-A |
c.11352C>A |
p.F3784L |
Missense |
69/82 |
- |
4 |
7-21901620-C-G |
c.11352C>G |
p.F3784L |
Missense |
69/82 |
- |
1 |
7-21901621-C-G |
c.11353C>G |
p.L3785V |
Missense |
69/82 |
- |
1 |
7-21901626-C-A |
c.11358C>A |
p.S3786= |
Synonymous |
69/82 |
- |
1 |
7-21901631-T-C |
c.11363T>C |
p.M3788T |
Missense |
69/82 |
- |
2 |
7-21901633-G-A |
c.11365G>A |
p.A3789T |
Missense |
69/82 |
- |
1 |
7-21901740-C-CT |
c.11373+113dup |
- |
IntronicInsertion |
- |
69/81 |
1 |
7-21902703-A-G |
c.11373+1062A>G |
- |
IntronicSNV |
- |
69/81 |
1 |
7-21904135-A-G |
c.11374-18A>G |
- |
IntronicSNV |
- |
69/81 |
1 |
7-21904153-A-G |
c.11374A>G |
p.I3792V |
Missense |
70/82 |
- |
1 |
7-21904163-G-A |
c.11384G>A |
p.R3795K |
Missense |
70/82 |
- |
1 |
7-21904168-A-G |
c.11389A>G |
p.K3797E |
Missense |
70/82 |
- |
1 |
7-21904161-GAGAA-G |
c.11390_11393del |
p.K3797Rfs*2 |
Frameshift |
70/82 |
- |
1 |
7-21904169-A-T |
c.11390A>T |
p.K3797I |
Missense |
70/82 |
- |
2 |
7-21904171-G-A |
c.11392G>A |
p.E3798K |
Missense |
70/82 |
- |
3 |
7-21904175-T-C |
c.11396T>C |
p.I3799T |
Missense |
70/82 |
- |
3 |
7-21904177-G-C |
c.11398G>C |
p.D3800H |
Missense |
70/82 |
- |
4 |
7-21904178-A-G |
c.11399A>G |
p.D3800G |
Missense |
70/82 |
- |
1 |
7-21904181-C-G |
c.11402C>G |
p.P3801R |
Missense |
70/82 |
- |
3 |
7-21904183-C-G |
c.11404C>G |
p.L3802V |
Missense |
70/82 |
- |
1 |
7-21904191-G-A |
c.11412G>A |
p.L3804= |
Synonymous |
70/82 |
- |
1 |
7-21904197-C-T |
c.11418C>T |
p.F3806= |
Synonymous |
70/82 |
- |
2 |
7-21904198-C-T |
c.11419C>T |
p.L3807= |
Synonymous |
70/82 |
- |
1 |
7-21904200-G-A |
c.11421G>A |
p.L3807= |
Synonymous |
70/82 |
- |
1 |
7-21904200-G-C |
c.11421G>C |
p.L3807= |
Synonymous |
70/82 |
- |
1 |
7-21904200-G-T |
c.11421G>T |
p.L3807= |
Synonymous |
70/82 |
- |
1 |
7-21904203-T-A |
c.11424T>A |
p.L3808= |
Synonymous |
70/82 |
- |
1 |
7-21904203-T-C |
c.11424T>C |
p.L3808= |
Synonymous |
70/82 |
- |
1 |
7-21904203-T-G |
c.11424T>G |
p.L3808= |
Synonymous |
70/82 |
- |
1 |
7-21904204-CGA-TAT |
c.11425_11427delinsTAT |
p.R3809Y |
Missense |
70/82 |
- |
1 |
7-21904204-CGA-TGT |
c.11425_11427delinsTGT |
p.R3809C |
Missense |
70/82 |
- |
1 |
7-21904204-C-T |
c.11425C>T |
p.R3809* |
Nonsense |
70/82 |
- |
2 |
7-21904205-G-A |
c.11426G>A |
p.R3809Q |
Missense |
70/82 |
- |
4 |
7-21904207-T-G |
c.11428T>G |
p.F3810V |
Missense |
70/82 |
- |
1 |
7-21904219-C-T |
c.11440C>T |
p.H3814Y |
Missense |
70/82 |
- |
1 |
7-21904221-C-A |
c.11442C>A |
p.H3814Q |
Missense |
70/82 |
- |
2 |
7-21904221-C-G |
c.11442C>G |
p.H3814Q |
Missense |
70/82 |
- |
3 |
7-21904223-C-T |
c.11444C>T |
p.T3815I |
Missense |
70/82 |
- |
1 |
7-21904225-C-T |
c.11446C>T |
p.H3816Y |
Missense |
70/82 |
- |
1 |
7-21904236-C-A |
c.11457C>A |
p.P3819= |
Synonymous |
70/82 |
- |
2 |
7-21904236-C-G |
c.11457C>G |
p.P3819= |
Synonymous |
70/82 |
- |
2 |
7-21904236-C-T |
c.11457C>T |
p.P3819= |
Synonymous |
70/82 |
- |
2 |
7-21904237-G-A |
c.11458G>A |
p.V3820I |
Missense |
70/82 |
- |
1 |
7-21904238-T-C |
c.11459T>C |
p.V3820A |
Missense |
70/82 |
- |
1 |
7-21904240-G-A |
c.11461G>A |
p.D3821N |
Missense |
70/82 |
- |
2 |
7-21904243-T-G |
c.11464T>G |
p.F3822V |
Missense |
70/82 |
- |
1 |
7-21904247-T-C |
c.11468T>C |
p.L3823P |
Missense |
70/82 |
- |
1 |
7-21904253-C-T |
c.11474C>T |
p.S3825F |
Missense |
70/82 |
- |
2 |
7-21904262-G-A |
c.11483G>A |
p.W3828* |
Nonsense |
70/82 |
- |
3 |
7-21904263-G-A |
c.11484G>A |
p.W3828* |
Nonsense |
70/82 |
- |
2 |
7-21904264-A-C |
c.11485A>C |
p.S3829R |
Missense |
70/82 |
- |
3 |
7-21904266-T-A |
c.11487T>A |
p.S3829R |
Missense |
70/82 |
- |
2 |
7-21904266-T-G |
c.11487T>G |
p.S3829R |
Missense |
70/82 |
- |
2 |
7-21904270-A-G |
c.11491A>G |
p.I3831V |
Missense |
70/82 |
- |
2 |
7-21905831-C-A |
c.11497-257C>A |
- |
IntronicSNV |
- |
70/81 |
1 |
7-21905831-C-G |
c.11497-257C>G |
- |
IntronicSNV |
- |
70/81 |
1 |
7-21905831-C-T |
c.11497-257C>T |
- |
IntronicSNV |
- |
70/81 |
1 |
7-21905977-T-A |
c.11497-111T>A |
- |
IntronicSNV |
- |
70/81 |
2 |
7-21905977-T-C |
c.11497-111T>C |
- |
IntronicSNV |
- |
70/81 |
2 |
7-21906088-G-A |
c.11497G>A |
p.A3833T |
Missense |
71/82 |
- |
1 |
7-21906089-C-G |
c.11498C>G |
p.A3833G |
Missense |
71/82 |
- |
1 |
7-21906089-C-T |
c.11498C>T |
p.A3833V |
Missense |
71/82 |
- |
3 |
7-21906095-C-T |
c.11504C>T |
p.A3835V |
Missense |
71/82 |
- |
2 |
7-21906097-G-A |
c.11506G>A |
p.V3836I |
Missense |
71/82 |
- |
1 |
7-21906100-A-G |
c.11509A>G |
p.M3837V |
Missense |
71/82 |
- |
1 |
7-21906102-G-T |
c.11511G>T |
p.M3837I |
Missense |
71/82 |
- |
1 |
7-21906108-A-C |
c.11517A>C |
p.E3839D |
Missense |
71/82 |
- |
1 |
7-21906108-A-T |
c.11517A>T |
p.E3839D |
Missense |
71/82 |
- |
1 |
7-21906112-C-T |
c.11521C>T |
p.R3841* |
Nonsense |
71/82 |
- |
3 |
7-21906115-G-T |
c.11524G>T |
p.G3842C |
Missense |
71/82 |
- |
1 |
7-21906125-G-A |
c.11534G>A |
p.R3845Q |
Missense |
71/82 |
- |
3 |
7-21906125-G-T |
c.11534G>T |
p.R3845L |
Missense |
71/82 |
- |
1 |
7-21906127-G-A |
c.11536G>A |
p.D3846N |
Missense |
71/82 |
- |
3 |
7-21906128-A-C |
c.11537A>C |
p.D3846A |
Missense |
71/82 |
- |
1 |
7-21906129-T-A |
c.11538T>A |
p.D3846E |
Missense |
71/82 |
- |
1 |
7-21906137-G-A |
c.11546G>A |
p.G3849E |
Missense |
71/82 |
- |
2 |
7-21906137-G-T |
c.11546G>T |
p.G3849V |
Missense |
71/82 |
- |
3 |
7-21906156-G-A |
c.11565G>A |
p.R3855= |
Synonymous |
71/82 |
- |
1 |
7-21906163-G-A |
c.11572G>A |
p.V3858I |
Missense |
71/82 |
- |
1 |
7-21906166-G-A |
c.11575G>A |
p.E3859K |
Missense |
71/82 |
- |
3 |
7-21906166-G-T |
c.11575G>T |
p.E3859* |
Nonsense |
71/82 |
- |
2 |
7-21906170-C-T |
c.11579C>T |
p.S3860F |
Missense |
71/82 |
- |
1 |
7-21906171-C-T |
c.11580C>T |
p.S3860= |
Synonymous |
71/82 |
- |
1 |
7-21906173-A-T |
c.11582A>T |
p.E3861V |
Missense |
71/82 |
- |
1 |
7-21906176-G-A |
c.11585G>A |
p.C3862Y |
Missense |
71/82 |
- |
1 |
7-21906180-A-AG |
c.11590dup |
p.E3864Gfs*27 |
Frameshift |
71/82 |
- |
1 |
7-21906187-G-A |
c.11596G>A |
p.E3866K |
Missense |
71/82 |
- |
2 |
7-21906193-T-A |
c.11602T>A |
p.L3868I |
Missense |
71/82 |
- |
1 |
7-21906195-A-T |
c.11604A>T |
p.L3868F |
Missense |
71/82 |
- |
1 |
7-21906207-G-A |
c.11616G>A |
p.W3872* |
Nonsense |
71/82 |
- |
2 |
7-21906209-A-G |
c.11618A>G |
p.K3873R |
Missense |
71/82 |
- |
1 |
7-21906215-A-G |
c.11624A>G |
p.K3875R |
Missense |
71/82 |
- |
2 |
7-21906226-C-G |
c.11635C>G |
p.Q3879E |
Missense |
71/82 |
- |
1 |
7-21906226-C-T |
c.11635C>T |
p.Q3879* |
Nonsense |
71/82 |
- |
1 |
7-21906227-A-C |
c.11636A>C |
p.Q3879P |
Missense |
71/82 |
- |
1 |
7-21906229-A-C |
c.11638A>C |
p.K3880Q |
Missense |
71/82 |
- |
1 |
7-21906230-A-G |
c.11639A>G |
p.K3880R |
Missense |
71/82 |
- |
1 |
7-21906231-G-C |
c.11640G>C |
p.K3880N |
Missense |
71/82 |
- |
1 |
7-21906231-G-T |
c.11640G>T |
p.K3880N |
Missense |
71/82 |
- |
1 |
7-21906232-C-G |
c.11641C>G |
p.L3881V |
Missense |
71/82 |
- |
1 |
7-21906238-C-T |
c.11647C>T |
p.L3883F |
Missense |
71/82 |
- |
3 |
7-21906245-G-C |
c.11654G>C |
p.R3885T |
Missense |
71/82 |
- |
1 |
7-21906245-G-T |
c.11654G>T |
p.R3885I |
Missense |
71/82 |
- |
4 |
7-21906248-C-T |
c.11657C>T |
p.A3886V |
Missense |
71/82 |
- |
2 |
7-21906250-A-C |
c.11659A>C |
p.M3887L |
Missense |
71/82 |
- |
1 |
7-21906250-A-G |
c.11659A>G |
p.M3887V |
Missense |
71/82 |
- |
1 |
7-21906253-C-T |
c.11662C>T |
p.R3888C |
Missense |
71/82 |
- |
2 |
7-21906254-G-A |
c.11663G>A |
p.R3888H |
Missense |
71/82 |
- |
5 |
7-21906261-C-T |
c.11670C>T |
p.D3890= |
Synonymous |
71/82 |
- |
1 |
7-21906265-A-G |
c.11674A>G |
p.M3892V |
Missense |
71/82 |
- |
1 |
7-21906269-C-A |
c.11678C>A |
p.T3893K |
Missense |
71/82 |
- |
1 |
7-21906269-C-T |
c.11678C>T |
p.T3893M |
Missense |
71/82 |
- |
4 |
7-21906270-G-A |
c.11679G>A |
p.T3893= |
Synonymous |
71/82 |
- |
3 |
7-21906270-G-C |
c.11679G>C |
p.T3893= |
Synonymous |
71/82 |
- |
3 |
7-21906270-G-T |
c.11679G>T |
p.T3893= |
Synonymous |
71/82 |
- |
3 |
7-21906275-C-G |
c.11684C>G |
p.A3895G |
Missense |
71/82 |
- |
1 |
7-21906275-C-T |
c.11684C>T |
p.A3895V |
Missense |
71/82 |
- |
1 |
7-21906278-T-G |
c.11687T>G |
p.L3896R |
Missense |
71/82 |
- |
1 |
7-21907375-G-C |
c.11691-102G>C |
- |
IntronicSNV |
- |
71/81 |
2 |
7-21907441-C-A |
c.11691-36C>A |
- |
IntronicSNV |
- |
71/81 |
1 |
7-21907441-C-T |
c.11691-36C>T |
- |
IntronicSNV |
- |
71/81 |
1 |
7-21907452-G-A |
c.11691-25G>A |
- |
IntronicSNV |
- |
71/81 |
1 |
7-21907452-G-T |
c.11691-25G>T |
- |
IntronicSNV |
- |
71/81 |
1 |
7-21907452-G-GT |
c.11691-20dup |
- |
IntronicInsertion |
- |
71/81 |
4 |
7-21907457-T-TC |
c.11691-20_11691-19insC |
- |
IntronicInsertion |
- |
71/81 |
3 |
7-21907458-A-AG |
c.11691-19_11691-18insG |
- |
IntronicInsertion |
- |
71/81 |
1 |
7-21907458-A-C |
c.11691-19A>C |
- |
IntronicSNV |
- |
71/81 |
7 |
7-21907458-A-G |
c.11691-19A>G |
- |
IntronicSNV |
- |
71/81 |
7 |
7-21907458-A-T |
c.11691-19A>T |
- |
IntronicSNV |
- |
71/81 |
7 |
7-21907476-GAAATTTTGT-G |
c.11692_11700del |
p.N3898_V3900del |
SpliceAcceptorDeletion |
72/82 |
- |
1 |
7-21907480-T-C |
c.11694T>C |
p.N3898= |
Synonymous |
72/82 |
- |
1 |
7-21907490-G-A |
c.11704G>A |
p.E3902K |
Missense |
72/82 |
- |
2 |
7-21907495-A-C |
c.11709A>C |
p.K3903N |
Missense |
72/82 |
- |
1 |
7-21907496-C-T |
c.11710C>T |
p.L3904= |
Synonymous |
72/82 |
- |
2 |
7-21907498-G-A |
c.11712G>A |
p.L3904= |
Synonymous |
72/82 |
- |
2 |
7-21907498-G-C |
c.11712G>C |
p.L3904= |
Synonymous |
72/82 |
- |
2 |
7-21907498-G-T |
c.11712G>T |
p.L3904= |
Synonymous |
72/82 |
- |
2 |
7-21907503-C-T |
c.11717C>T |
p.A3906V |
Missense |
72/82 |
- |
1 |
7-21907504-G-A |
c.11718G>A |
p.A3906= |
Synonymous |
72/82 |
- |
3 |
7-21907504-G-C |
c.11718G>C |
p.A3906= |
Synonymous |
72/82 |
- |
1 |
7-21907504-G-T |
c.11718G>T |
p.A3906= |
Synonymous |
72/82 |
- |
1 |
7-21907514-G-A |
c.11728G>A |
p.E3910K |
Missense |
72/82 |
- |
1 |
7-21907521-C-T |
c.11735C>T |
p.T3912I |
Missense |
72/82 |
- |
1 |
7-21907523-A-T |
c.11737A>T |
p.R3913* |
Nonsense |
72/82 |
- |
1 |
7-21907528-G-A |
c.11742G>A |
p.L3914= |
Synonymous |
72/82 |
- |
1 |
7-21907529-G-A |
c.11743G>A |
p.D3915N |
Missense |
72/82 |
- |
2 |
7-21907529-G-C |
c.11743G>C |
p.D3915H |
Missense |
72/82 |
- |
3 |
7-21907530-A-T |
c.11744A>T |
p.D3915V |
Missense |
72/82 |
- |
1 |
7-21907532-T-G |
c.11746T>G |
p.L3916V |
Missense |
72/82 |
- |
3 |
7-21907533-T-C |
c.11747T>C |
p.L3916S |
Missense |
72/82 |
- |
1 |
7-21907535-G-A |
c.11749G>A |
p.V3917I |
Missense |
72/82 |
- |
1 |
7-21907541-G-A |
c.11755G>A |
p.A3919T |
Missense |
72/82 |
- |
1 |
7-21907546-C-A |
c.11760C>A |
p.F3920L |
Missense |
72/82 |
- |
1 |
7-21907546-C-T |
c.11760C>T |
p.F3920= |
Synonymous |
72/82 |
- |
1 |
7-21907547-G-A |
c.11761G>A |
p.E3921K |
Missense |
72/82 |
- |
3 |
7-21907550-AGAAAGCAG-A |
c.11764_11771del |
p.E3922Pfs*17 |
Frameshift |
72/82 |
- |
1 |
7-21907557-G-T |
c.11771G>T |
p.S3924I |
Missense |
72/82 |
- |
3 |
7-21907558-C-T |
c.11772C>T |
p.S3924= |
Synonymous |
72/82 |
- |
2 |
7-21907559-C-G |
c.11773C>G |
p.P3925A |
Missense |
72/82 |
- |
1 |
7-21907560-C-T |
c.11774C>T |
p.P3925L |
Missense |
72/82 |
- |
2 |
7-21907563-C-T |
c.11777C>T |
p.A3926V |
Missense |
72/82 |
- |
1 |
7-21907567-C-T |
c.11781C>T |
p.T3927= |
Synonymous |
72/82 |
- |
2 |
7-21907574-T-C |
c.11788T>C |
p.F3930L |
Missense |
72/82 |
- |
1 |
7-21907574-T-TAC |
c.11788_11789insAC |
p.F3930Yfs*9 |
Frameshift |
72/82 |
- |
1 |
7-21907576-C-A |
c.11790C>A |
p.F3930L |
Missense |
72/82 |
- |
1 |
7-21907576-C-G |
c.11790C>G |
p.F3930L |
Missense |
72/82 |
- |
1 |
7-21907579-C-T |
c.11793C>T |
p.F3931= |
Synonymous |
72/82 |
- |
3 |
7-21907590-C-G |
c.11804C>G |
p.P3935R |
Missense |
72/82 |
- |
1 |
7-21907590-C-T |
c.11804C>T |
p.P3935L |
Missense |
72/82 |
- |
7 |
7-21907594-G-A |
c.11808G>A |
p.G3936= |
Synonymous |
72/82 |
- |
1 |
7-21907597-A-C |
c.11811A>C |
p.V3937= |
Synonymous |
72/82 |
- |
2 |
7-21907597-A-G |
c.11811A>G |
p.V3937= |
Synonymous |
72/82 |
- |
2 |
7-21907597-A-T |
c.11811A>T |
p.V3937= |
Synonymous |
72/82 |
- |
2 |
7-21907598-G-C |
c.11812G>C |
p.D3938H |
Missense |
72/82 |
- |
2 |
7-21907600-T-C |
c.11814T>C |
p.D3938= |
Synonymous |
72/82 |
- |
1 |
7-21907604-C-G |
c.11818C>G |
p.L3940V |
Missense |
72/82 |
- |
1 |
7-21907616-G-A |
c.11830G>A |
p.E3944K |
Missense |
72/82 |
- |
3 |
7-21907626-G-A |
c.11839+1G>A |
- |
IntronicSNV |
- |
72/81 |
2 |
7-21907637-G-C |
c.11839+12G>C |
- |
IntronicSNV |
- |
72/81 |
1 |
7-21907653-G-A |
c.11839+28G>A |
- |
IntronicSNV |
- |
72/81 |
1 |
7-21907653-G-C |
c.11839+28G>C |
- |
IntronicSNV |
- |
72/81 |
1 |
7-21907683-A-C |
c.11839+58A>C |
- |
IntronicSNV |
- |
72/81 |
1 |
7-21907696-T-C |
c.11839+71T>C |
- |
IntronicSNV |
- |
72/81 |
1 |
7-21907697-T-C |
c.11839+72T>C |
- |
IntronicSNV |
- |
72/81 |
1 |
7-21907722-C-T |
c.11839+97C>T |
- |
IntronicSNV |
- |
72/81 |
1 |
7-21907870-G-A |
c.11839+245G>A |
- |
IntronicSNV |
- |
72/81 |
1 |
7-21907895-C-T |
c.11839+270C>T |
- |
IntronicSNV |
- |
72/81 |
1 |
7-21907916-G-A |
c.11839+291G>A |
- |
IntronicSNV |
- |
72/81 |
1 |
7-21908279-T-G |
c.11840-203T>G |
- |
IntronicSNV |
- |
72/81 |
1 |
7-21908463-G-A |
c.11840-19G>A |
- |
IntronicSNV |
- |
72/81 |
1 |
7-21908488-G-T |
c.11846G>T |
p.R3949I |
Missense |
73/82 |
- |
1 |
7-21908490-C-A |
c.11848C>A |
p.L3950I |
Missense |
73/82 |
- |
1 |
7-21908490-CTT-ATG |
c.11848_11850delinsATG |
p.L3950M |
Missense |
73/82 |
- |
1 |
7-21908494-G-T |
c.11852G>T |
p.G3951V |
Missense |
73/82 |
- |
3 |
7-21908495-GC-G |
c.11853del |
p.F3952Lfs*13 |
Frameshift |
73/82 |
- |
1 |
7-21908503-T-A |
c.11861T>A |
p.I3954N |
Missense |
73/82 |
- |
1 |
7-21908503-T-C |
c.11861T>C |
p.I3954T |
Missense |
73/82 |
- |
1 |
7-21908507-C-T |
c.11865C>T |
p.D3955= |
Synonymous |
73/82 |
- |
1 |
7-21908509-C-A |
c.11867C>A |
p.S3956Y |
Missense |
73/82 |
- |
2 |
7-21908509-C-G |
c.11867C>G |
p.S3956C |
Missense |
73/82 |
- |
2 |
7-21908509-C-T |
c.11867C>T |
p.S3956F |
Missense |
73/82 |
- |
1 |
7-21908512-G-A |
c.11870G>A |
p.G3957E |
Missense |
73/82 |
- |
3 |
7-21908512-G-C |
c.11870G>C |
p.G3957A |
Missense |
73/82 |
- |
2 |
7-21908512-G-T |
c.11870G>T |
p.G3957V |
Missense |
73/82 |
- |
1 |
7-21908514-A-C |
c.11872A>C |
p.K3958Q |
Missense |
73/82 |
- |
4 |
7-21908515-A-G |
c.11873A>G |
p.K3958R |
Missense |
73/82 |
- |
1 |
7-21908518-T-C |
c.11876T>C |
p.F3959S |
Missense |
73/82 |
- |
1 |
7-21908524-A-G |
c.11882A>G |
p.N3961S |
Missense |
73/82 |
- |
1 |
7-21908524-A-T |
c.11882A>T |
p.N3961I |
Missense |
73/82 |
- |
1 |
7-21908530-C-A |
c.11888C>A |
p.S3963Y |
Missense |
73/82 |
- |
1 |
7-21908530-C-T |
c.11888C>T |
p.S3963F |
Missense |
73/82 |
- |
4 |
7-21908534-A-C |
c.11892A>C |
p.L3964F |
Missense |
73/82 |
- |
1 |
7-21908542-G-A |
c.11900G>A |
p.G3967D |
Missense |
73/82 |
- |
1 |
7-21908542-G-T |
c.11900G>T |
p.G3967V |
Missense |
73/82 |
- |
1 |
7-21908544-C-A |
c.11902C>A |
p.Q3968K |
Missense |
73/82 |
- |
1 |
7-21908546-G-A |
c.11904G>A |
p.Q3968= |
Synonymous |
73/82 |
- |
1 |
7-21908551-C-T |
c.11909C>T |
p.T3970M |
Missense |
73/82 |
- |
2 |
7-21908555-G-A |
c.11913G>A |
p.V3971= |
Synonymous |
73/82 |
- |
1 |
7-21908554-TG-T |
c.11914del |
p.A3972Qfs*23 |
Frameshift |
73/82 |
- |
1 |
7-21908566-C-T |
c.11924C>T |
p.A3975V |
Missense |
73/82 |
- |
1 |
7-21908571-G-A |
c.11929G>A |
p.E3977K |
Missense |
73/82 |
- |
1 |
7-21908571-G-T |
c.11929G>T |
p.E3977* |
Nonsense |
73/82 |
- |
5 |
7-21908575-A-T |
c.11933A>T |
p.K3978I |
Missense |
73/82 |
- |
2 |
7-21908578-C-G |
c.11936C>G |
p.A3979G |
Missense |
73/82 |
- |
1 |
7-21908578-C-T |
c.11936C>T |
p.A3979V |
Missense |
73/82 |
- |
1 |
7-21908580-T-C |
c.11938T>C |
p.S3980P |
Missense |
73/82 |
- |
1 |
7-21908589-G-A |
c.11947G>A |
p.G3983R |
Missense |
73/82 |
- |
2 |
7-21908590-GA-AC |
c.11948_11949delinsAC |
p.G3983D |
Missense |
73/82 |
- |
1 |
7-21908594-C-A |
c.11952C>A |
p.H3984Q |
Missense |
73/82 |
- |
1 |
7-21908607-C-T |
c.11965C>T |
p.Q3989* |
Nonsense |
73/82 |
- |
1 |
7-21908609-A-C |
c.11967A>C |
p.Q3989H |
Missense |
73/82 |
- |
1 |
7-21908609-A-T |
c.11967A>T |
p.Q3989H |
Missense |
73/82 |
- |
1 |
7-21911691-A-G |
c.11968-1201A>G |
- |
IntronicSNV |
- |
73/81 |
1 |
7-21911746-A-AAAAAAAAAAAAAC |
c.11968-1134_11968-1133insCAAAAAAAAAAAA |
- |
IntronicInsertion |
- |
73/81 |
1 |
7-21912846-A-C |
c.11968-46A>C |
- |
IntronicSNV |
- |
73/81 |
1 |
7-21912907-G-A |
c.11983G>A |
p.A3995T |
Missense |
74/82 |
- |
2 |
7-21912909-C-A |
c.11985C>A |
p.A3995= |
Synonymous |
74/82 |
- |
1 |
7-21912910-A-G |
c.11986A>G |
p.K3996E |
Missense |
74/82 |
- |
1 |
7-21912912-G-C |
c.11988G>C |
p.K3996N |
Missense |
74/82 |
- |
2 |
7-21912920-G-A |
c.11996G>A |
p.G3999E |
Missense |
74/82 |
- |
1 |
7-21912933-G-C |
c.12009G>C |
p.K4003N |
Missense |
74/82 |
- |
3 |
7-21912933-G-T |
c.12009G>T |
p.K4003N |
Missense |
74/82 |
- |
1 |
7-21912936-C-A |
c.12012C>A |
p.L4004= |
Synonymous |
74/82 |
- |
1 |
7-21912936-C-G |
c.12012C>G |
p.L4004= |
Synonymous |
74/82 |
- |
1 |
7-21912936-C-T |
c.12012C>T |
p.L4004= |
Synonymous |
74/82 |
- |
1 |
7-21912939-T-C |
c.12015T>C |
p.L4005= |
Synonymous |
74/82 |
- |
1 |
7-21912944-G-C |
c.12020G>C |
p.R4007T |
Missense |
74/82 |
- |
1 |
7-21912946-T-C |
c.12022T>C |
p.F4008L |
Missense |
74/82 |
- |
1 |
7-21912949-A-G |
c.12025A>G |
p.S4009G |
Missense |
74/82 |
- |
1 |
7-21912951-C-T |
c.12027C>T |
p.S4009= |
Synonymous |
74/82 |
- |
1 |
7-21912955-G-A |
c.12031G>A |
p.G4011R |
Missense |
74/82 |
- |
4 |
7-21912955-G-C |
c.12031G>C |
p.G4011R |
Missense |
74/82 |
- |
3 |
7-21912956-G-A |
c.12032G>A |
p.G4011E |
Missense |
74/82 |
- |
4 |
7-21912960-CCA-C |
c.12039_12040del |
p.H4013Qfs*10 |
Frameshift |
74/82 |
- |
1 |
7-21912964-A-C |
c.12040A>C |
p.R4014= |
Synonymous |
74/82 |
- |
1 |
7-21912965-G-A |
c.12041G>A |
p.R4014K |
Missense |
74/82 |
- |
1 |
7-21912967-G-T |
c.12043G>T |
p.D4015Y |
Missense |
74/82 |
- |
2 |
7-21912969-T-C |
c.12045T>C |
p.D4015= |
Synonymous |
74/82 |
- |
2 |
7-21912970-T-C |
c.12046T>C |
p.Y4016H |
Missense |
74/82 |
- |
1 |
7-21912974-G-A |
c.12050G>A |
p.R4017K |
Missense |
74/82 |
- |
1 |
7-21912976-G-A |
c.12052G>A |
p.V4018I |
Missense |
74/82 |
- |
1 |
7-21912976-G-T |
c.12052G>T |
p.V4018F |
Missense |
74/82 |
- |
1 |
7-21912977-T-G |
c.12053T>G |
p.V4018G |
Missense |
74/82 |
- |
1 |
7-21912985-A-C |
c.12061A>C |
p.S4021R |
Missense |
74/82 |
- |
1 |
7-21912988-G-C |
c.12064G>C |
p.A4022P |
Missense |
74/82 |
- |
4 |
7-21912993-G-A |
c.12069G>A |
p.E4023= |
Synonymous |
74/82 |
- |
1 |
7-21912993-G-C |
c.12069G>C |
p.E4023D |
Missense |
74/82 |
- |
1 |
7-21912995-C-A |
c.12071C>A |
p.S4024Y |
Missense |
74/82 |
- |
1 |
7-21912995-C-T |
c.12071C>T |
p.S4024F |
Missense |
74/82 |
- |
3 |
7-21912997-G-A |
c.12073G>A |
p.A4025T |
Missense |
74/82 |
- |
2 |
7-21913004-C-T |
c.12080C>T |
p.T4027I |
Missense |
74/82 |
- |
1 |
7-21913005-A-T |
c.12081A>T |
p.T4027= |
Synonymous |
74/82 |
- |
1 |
7-21913009-G-T |
c.12085G>T |
p.D4029Y |
Missense |
74/82 |
- |
1 |
7-21913012-G-T |
c.12088G>T |
p.E4030* |
Nonsense |
74/82 |
- |
1 |
7-21913023-C-T |
c.12099C>T |
p.I4033= |
Synonymous |
74/82 |
- |
1 |
7-21913024-C-G |
c.12100C>G |
p.P4034A |
Missense |
74/82 |
- |
4 |
7-21913028-A-G |
c.12104A>G |
p.Q4035R |
Missense |
74/82 |
- |
1 |
7-21913030-G-A |
c.12106G>A |
p.G4036R |
Missense |
74/82 |
- |
1 |
7-21913030-G-C |
c.12106G>C |
p.G4036R |
Missense |
74/82 |
- |
1 |
7-21913034-T-G |
c.12110T>G |
p.L4037R |
Missense |
74/82 |
- |
1 |
7-21913035-C-A |
c.12111C>A |
p.L4037= |
Synonymous |
74/82 |
- |
1 |
7-21913035-C-G |
c.12111C>G |
p.L4037= |
Synonymous |
74/82 |
- |
1 |
7-21913035-C-T |
c.12111C>T |
p.L4037= |
Synonymous |
74/82 |
- |
1 |
7-21913036-C-G |
c.12112C>G |
p.L4038V |
Missense |
74/82 |
- |
1 |
7-21913038-G-C |
c.12114G>C |
p.L4038= |
Synonymous |
74/82 |
- |
1 |
7-21913039-G-A |
c.12115G>A |
p.E4039K |
Missense |
74/82 |
- |
2 |
7-21913052-A-G |
c.12128A>G |
p.K4043R |
Missense |
74/82 |
- |
3 |
7-21913054-A-G |
c.12130A>G |
p.I4044V |
Missense |
74/82 |
- |
1 |
7-21913063-G-A |
c.12139G>A |
p.E4047K |
Missense |
74/82 |
- |
2 |
7-21913065-A-G |
c.12141A>G |
p.E4047= |
Synonymous |
74/82 |
- |
1 |
7-21913067-C-A |
c.12143C>A |
p.P4048H |
Missense |
74/82 |
- |
3 |
7-21913069-C-A |
c.12145C>A |
p.P4049T |
Missense |
74/82 |
- |
1 |
7-21913072-A-G |
c.12148A>G |
p.T4050A |
Missense |
74/82 |
- |
1 |
7-21913076-G-A |
c.12152G>A |
p.G4051E |
Missense |
74/82 |
- |
1 |
7-21913082-T-C |
c.12158T>C |
p.L4053P |
Missense |
74/82 |
- |
1 |
7-21913081-C-T |
c.12157C>T |
p.L4053= |
Synonymous |
74/82 |
- |
1 |
7-21913083-G-A |
c.12159G>A |
p.L4053= |
Synonymous |
74/82 |
- |
1 |
7-21913083-G-C |
c.12159G>C |
p.L4053= |
Synonymous |
74/82 |
- |
1 |
7-21913083-G-T |
c.12159G>T |
p.L4053= |
Synonymous |
74/82 |
- |
1 |
7-21913084-G-A |
c.12160G>A |
p.A4054T |
Missense |
74/82 |
- |
1 |
7-21913089-T-A |
c.12165T>A |
p.N4055K |
Missense |
74/82 |
- |
2 |
7-21913090-T-C |
c.12166T>C |
p.L4056= |
Synonymous |
74/82 |
- |
2 |
7-21913092-G-A |
c.12168G>A |
p.L4056= |
Synonymous |
74/82 |
- |
2 |
7-21913099-G-A |
c.12175G>A |
p.A4059T |
Missense |
74/82 |
- |
4 |
7-21913100-C-A |
c.12176C>A |
p.A4059D |
Missense |
74/82 |
- |
1 |
7-21913105-T-C |
c.12181T>C |
p.Y4061H |
Missense |
74/82 |
- |
1 |
7-21913109-A-G |
c.12185A>G |
p.N4062S |
Missense |
74/82 |
- |
1 |
7-21913110-C-A |
c.12186C>A |
p.N4062K |
Missense |
74/82 |
- |
1 |
7-21913110-C-G |
c.12186C>G |
p.N4062K |
Missense |
74/82 |
- |
1 |
7-21913117-C-T |
c.12193C>T |
p.Q4065* |
Nonsense |
74/82 |
- |
1 |
7-21914990-C-A |
c.12195+1871C>A |
- |
IntronicSNV |
- |
74/81 |
1 |
7-21915464-G-A |
c.12195+2345G>A |
- |
IntronicSNV |
- |
74/81 |
1 |
7-21915464-G-T |
c.12195+2345G>T |
- |
IntronicSNV |
- |
74/81 |
1 |
7-21918306-C-T |
c.12196-2014C>T |
- |
IntronicSNV |
- |
74/81 |
1 |
7-21920165-C-T |
c.12196-155C>T |
- |
IntronicSNV |
- |
74/81 |
2 |
7-21920320-G-A |
c.12196G>A |
p.D4066N |
Missense |
75/82 |
- |
1 |
7-21920329-G-A |
c.12205G>A |
p.E4069K |
Missense |
75/82 |
- |
3 |
7-21920332-A-G |
c.12208A>G |
p.I4070V |
Missense |
75/82 |
- |
1 |
7-21920336-G-C |
c.12212G>C |
p.C4071S |
Missense |
75/82 |
- |
1 |
7-21920340-C-T |
c.12216C>T |
p.S4072= |
Synonymous |
75/82 |
- |
2 |
7-21920343-G-A |
c.12219G>A |
p.K4073= |
Synonymous |
75/82 |
- |
1 |
7-21920344-G-A |
c.12220G>A |
p.E4074K |
Missense |
75/82 |
- |
1 |
7-21920344-G-T |
c.12220G>T |
p.E4074* |
Nonsense |
75/82 |
- |
1 |
7-21920347-C-T |
c.12223C>T |
p.Q4075* |
Nonsense |
75/82 |
- |
1 |
7-21920348-A-T |
c.12224A>T |
p.Q4075L |
Missense |
75/82 |
- |
1 |
7-21920350-G-A |
c.12226G>A |
p.E4076K |
Missense |
75/82 |
- |
2 |
7-21920351-A-G |
c.12227A>G |
p.E4076G |
Missense |
75/82 |
- |
1 |
7-21920360-G-A |
c.12236G>A |
p.S4079N |
Missense |
75/82 |
- |
1 |
7-21920360-G-C |
c.12236G>C |
p.S4079T |
Missense |
75/82 |
- |
1 |
7-21920365-C-A |
c.12241C>A |
p.L4081I |
Missense |
75/82 |
- |
1 |
7-21920374-C-G |
c.12250C>G |
p.L4084V |
Missense |
75/82 |
- |
1 |
7-21920374-C-T |
c.12250C>T |
p.L4084F |
Missense |
75/82 |
- |
4 |
7-21920382-C-A |
c.12258C>A |
p.Y4086* |
Nonsense |
75/82 |
- |
2 |
7-21920390-C-T |
c.12266C>T |
p.A4089V |
Missense |
75/82 |
- |
1 |
7-21920391-C-T |
c.12267C>T |
p.A4089= |
Synonymous |
75/82 |
- |
1 |
7-21920393-G-T |
c.12269G>T |
p.C4090F |
Missense |
75/82 |
- |
1 |
7-21920395-G-A |
c.12271G>A |
p.V4091I |
Missense |
75/82 |
- |
1 |
7-21920404-A-G |
c.12280A>G |
p.R4094G |
Missense |
75/82 |
- |
1 |
7-21920408-T-C |
c.12284T>C |
p.L4095P |
Missense |
75/82 |
- |
1 |
7-21920407-C-T |
c.12283C>T |
p.L4095= |
Synonymous |
75/82 |
- |
1 |
7-21920409-G-A |
c.12285G>A |
p.L4095= |
Synonymous |
75/82 |
- |
1 |
7-21920409-G-C |
c.12285G>C |
p.L4095= |
Synonymous |
75/82 |
- |
1 |
7-21920409-G-T |
c.12285G>T |
p.L4095= |
Synonymous |
75/82 |
- |
1 |
7-21920412-G-A |
c.12288G>A |
p.R4096= |
Synonymous |
75/82 |
- |
1 |
7-21920420-C-G |
c.12296C>G |
p.P4099R |
Missense |
75/82 |
- |
1 |
7-21920424-G-C |
c.12300G>C |
p.Q4100H |
Missense |
75/82 |
- |
1 |
7-21920426-G-A |
c.12302G>A |
p.G4101D |
Missense |
75/82 |
- |
4 |
7-21920430-G-A |
c.12306G>A |
p.W4102* |
Nonsense |
75/82 |
- |
1 |
7-21920434-C-T |
c.12310C>T |
p.R4104* |
Nonsense |
75/82 |
- |
1 |
7-21920435-G-A |
c.12311G>A |
p.R4104Q |
Missense |
75/82 |
- |
2 |
7-21920438-G-A |
c.12314G>A |
p.S4105N |
Missense |
75/82 |
- |
1 |
7-21920441-A-G |
c.12317A>G |
p.Y4106C |
Missense |
75/82 |
- |
1 |
7-21920443-C-G |
c.12319C>G |
p.P4107A |
Missense |
75/82 |
- |
1 |
7-21920442-TC-T |
c.12320del |
p.P4107Lfs*18 |
Frameshift |
75/82 |
- |
1 |
7-21920452-C-A |
c.12328C>A |
p.P4110T |
Missense |
75/82 |
- |
2 |
7-21920452-C-T |
c.12328C>T |
p.P4110S |
Missense |
75/82 |
- |
1 |
7-21920455-G-A |
c.12331G>A |
p.G4111R |
Missense |
75/82 |
- |
2 |
7-21920456-G-A |
c.12332G>A |
p.G4111E |
Missense |
75/82 |
- |
3 |
7-21920458-G-C |
c.12334G>C |
p.D4112H |
Missense |
75/82 |
- |
1 |
7-21920468-T-G |
c.12344T>G |
p.I4115S |
Missense |
75/82 |
- |
2 |
7-21920482-C-T |
c.12358C>T |
p.L4120F |
Missense |
75/82 |
- |
1 |
7-21920485-T-C |
c.12361T>C |
p.Y4121H |
Missense |
75/82 |
- |
1 |
7-21920487-C-A |
c.12363C>A |
p.Y4121* |
Nonsense |
75/82 |
- |
1 |
7-21920487-C-G |
c.12363C>G |
p.Y4121* |
Nonsense |
75/82 |
- |
5 |
7-21920487-C-T |
c.12363C>T |
p.Y4121= |
Synonymous |
75/82 |
- |
1 |
7-21920489-A-G |
c.12365A>G |
p.N4122S |
Missense |
75/82 |
- |
1 |
7-21920495-T-C |
c.12371T>C |
p.L4124S |
Missense |
75/82 |
- |
1 |
7-21920532-A-G |
c.12387+21A>G |
- |
IntronicSNV |
- |
75/81 |
1 |
7-21920532-A-T |
c.12387+21A>T |
- |
IntronicSNV |
- |
75/81 |
1 |
7-21920556-G-A |
c.12387+45G>A |
- |
IntronicSNV |
- |
75/81 |
1 |
7-21920800-G-A |
c.12387+289G>A |
- |
IntronicSNV |
- |
75/81 |
1 |
7-21920802-A-C |
c.12387+291A>C |
- |
IntronicSNV |
- |
75/81 |
1 |
7-21921331-T-C |
c.12387+820T>C |
- |
IntronicSNV |
- |
75/81 |
1 |
7-21922555-T-C |
c.12388-1354T>C |
- |
IntronicSNV |
- |
75/81 |
1 |
7-21922566-G-A |
c.12388-1343G>A |
- |
IntronicSNV |
- |
75/81 |
1 |
7-21923867-C-G |
c.12388-42C>G |
- |
IntronicSNV |
- |
75/81 |
6 |
7-21923918-G-A |
c.12397G>A |
p.E4133K |
Missense |
76/82 |
- |
2 |
7-21923919-A-G |
c.12398A>G |
p.E4133G |
Missense |
76/82 |
- |
1 |
7-21923927-C-T |
c.12406C>T |
p.R4136C |
Missense |
76/82 |
- |
1 |
7-21923933-C-A |
c.12412C>A |
p.L4138I |
Missense |
76/82 |
- |
1 |
7-21923939-G-A |
c.12418G>A |
p.G4140S |
Missense |
76/82 |
- |
2 |
7-21923939-GG-AA |
c.12418_12419delinsAA |
p.G4140N |
Missense |
76/82 |
- |
1 |
7-21923941-T-C |
c.12420T>C |
p.G4140= |
Synonymous |
76/82 |
- |
1 |
7-21923947-C-T |
c.12426C>T |
p.I4142= |
Synonymous |
76/82 |
- |
1 |
7-21923949-T-C |
c.12428T>C |
p.M4143T |
Missense |
76/82 |
- |
1 |
7-21923957-GGC-TGG |
c.12436_12438delinsTGG |
p.G4146W |
Missense |
76/82 |
- |
1 |
7-21923959-C-T |
c.12438C>T |
p.G4146= |
Synonymous |
76/82 |
- |
1 |
7-21923967-C-T |
c.12446C>T |
p.T4149I |
Missense |
76/82 |
- |
1 |
7-21923981-C-T |
c.12460C>T |
p.R4154C |
Missense |
76/82 |
- |
1 |
7-21923982-G-A |
c.12461G>A |
p.R4154H |
Missense |
76/82 |
- |
4 |
7-21923988-T-G |
c.12467T>G |
p.L4156R |
Missense |
76/82 |
- |
3 |
7-21923994-G-A |
c.12473G>A |
p.R4158Q |
Missense |
76/82 |
- |
3 |
7-21923997-T-G |
c.12476T>G |
p.V4159G |
Missense |
76/82 |
- |
1 |
7-21924005-G-A |
c.12484G>A |
p.E4162K |
Missense |
76/82 |
- |
1 |
7-21924006-A-C |
c.12485A>C |
p.E4162A |
Missense |
76/82 |
- |
3 |
7-21924013-C-T |
c.12492C>T |
p.F4164= |
Synonymous |
76/82 |
- |
3 |
7-21924014-A-G |
c.12493A>G |
p.M4165V |
Missense |
76/82 |
- |
36 |
7-21924014-A-T |
c.12493A>T |
p.M4165L |
Missense |
76/82 |
- |
14 |
7-21924021-C-T |
c.12500C>T |
p.P4167L |
Missense |
76/82 |
- |
2 |
7-21924029-G-C |
c.12507+1G>C |
- |
IntronicSNV |
- |
76/81 |
1 |
7-21924239-C-G |
c.12507+211C>G |
- |
IntronicSNV |
- |
76/81 |
1 |
7-21925105-A-T |
c.12507+1077A>T |
- |
IntronicSNV |
- |
76/81 |
1 |
7-21925349-G-A |
c.12507+1321G>A |
- |
IntronicSNV |
- |
76/81 |
1 |
7-21927082-G-C |
c.12507+3054G>C |
- |
IntronicSNV |
- |
76/81 |
1 |
7-21928079-C-A |
c.12508-3964C>A |
- |
IntronicSNV |
- |
76/81 |
1 |
7-21928527-T-C |
c.12508-3516T>C |
- |
IntronicSNV |
- |
76/81 |
1 |
7-21929452-T-G |
c.12508-2591T>G |
- |
IntronicSNV |
- |
76/81 |
1 |
7-21930604-G-A |
c.12508-1439G>A |
- |
IntronicSNV |
- |
76/81 |
1 |
7-21932031-T-C |
c.12508-12T>C |
- |
IntronicSNV |
- |
76/81 |
2 |
7-21932043-A-T |
c.12508A>T |
p.T4170S |
Missense |
77/82 |
- |
1 |
7-21932044-C-G |
c.12509C>G |
p.T4170S |
Missense |
77/82 |
- |
15 |
7-21932044-C-T |
c.12509C>T |
p.T4170I |
Missense |
77/82 |
- |
32 |
7-21932045-T-A |
c.12510T>A |
p.T4170= |
Synonymous |
77/82 |
- |
3 |
7-21932045-T-C |
c.12510T>C |
p.T4170= |
Synonymous |
77/82 |
- |
3 |
7-21932045-T-G |
c.12510T>G |
p.T4170= |
Synonymous |
77/82 |
- |
3 |
7-21932046-G-A |
c.12511G>A |
p.E4171K |
Missense |
77/82 |
- |
2 |
7-21932047-A-G |
c.12512A>G |
p.E4171G |
Missense |
77/82 |
- |
1 |
7-21932047-A-T |
c.12512A>T |
p.E4171V |
Missense |
77/82 |
- |
1 |
7-21932052-G-A |
c.12517G>A |
p.E4173K |
Missense |
77/82 |
- |
2 |
7-21932052-G-T |
c.12517G>T |
p.E4173* |
Nonsense |
77/82 |
- |
1 |
7-21932058-A-T |
c.12523A>T |
p.M4175L |
Missense |
77/82 |
- |
1 |
7-21932061-C-T |
c.12526C>T |
p.L4176= |
Synonymous |
77/82 |
- |
1 |
7-21932065-C-T |
c.12530C>T |
p.A4177V |
Missense |
77/82 |
- |
1 |
7-21932067-C-A |
c.12532C>A |
p.P4178T |
Missense |
77/82 |
- |
2 |
7-21932068-C-T |
c.12533C>T |
p.P4178L |
Missense |
77/82 |
- |
1 |
7-21932080-C-G |
c.12545C>G |
p.A4182G |
Missense |
77/82 |
- |
1 |
7-21932083-C-T |
c.12548C>T |
p.P4183L |
Missense |
77/82 |
- |
3 |
7-21932086-C-T |
c.12551C>T |
p.P4184L |
Missense |
77/82 |
- |
1 |
7-21932096-T-G |
c.12561T>G |
p.D4187E |
Missense |
77/82 |
- |
2 |
7-21932099-T-A |
c.12564T>A |
p.Y4188* |
Nonsense |
77/82 |
- |
1 |
7-21932099-T-G |
c.12564T>G |
p.Y4188* |
Nonsense |
77/82 |
- |
1 |
7-21932104-G-A |
c.12569G>A |
p.G4190D |
Missense |
77/82 |
- |
4 |
7-21932107-A-T |
c.12572A>T |
p.Y4191F |
Missense |
77/82 |
- |
1 |
7-21932110-A-G |
c.12575A>G |
p.H4192R |
Missense |
77/82 |
- |
1 |
7-21932112-C-T |
c.12577C>T |
p.Q4193* |
Nonsense |
77/82 |
- |
1 |
7-21932115-T-C |
c.12580T>C |
p.Y4194H |
Missense |
77/82 |
- |
3 |
7-21932124-G-A |
c.12589G>A |
p.E4197K |
Missense |
77/82 |
- |
1 |
7-21932126-G-C |
c.12591G>C |
p.E4197D |
Missense |
77/82 |
- |
2 |
7-21932128-T-C |
c.12593T>C |
p.M4198T |
Missense |
77/82 |
- |
1 |
7-21932136-C-T |
c.12601C>T |
p.P4201S |
Missense |
77/82 |
- |
3 |
7-21932135-TC-T |
c.12602del |
p.P4201Qfs*15 |
Frameshift |
77/82 |
- |
1 |
7-21932145-C-T |
c.12610C>T |
p.P4204S |
Missense |
77/82 |
- |
1 |
7-21932148-G-T |
c.12613G>T |
p.A4205S |
Missense |
77/82 |
- |
1 |
7-21932150-A-C |
c.12615A>C |
p.A4205= |
Synonymous |
77/82 |
- |
2 |
7-21932150-A-G |
c.12615A>G |
p.A4205= |
Synonymous |
77/82 |
- |
2 |
7-21932150-A-T |
c.12615A>T |
p.A4205= |
Synonymous |
77/82 |
- |
2 |
7-21932151-C-A |
c.12616C>A |
p.L4206M |
Missense |
77/82 |
- |
2 |
7-21932154-T-A |
c.12619T>A |
p.Y4207N |
Missense |
77/82 |
- |
2 |
7-21932158-G-A |
c.12623G>A |
p.G4208D |
Missense |
77/82 |
- |
1 |
7-21932160-C-T |
c.12625C>T |
p.L4209F |
Missense |
77/82 |
- |
1 |
7-21932166-C-G |
c.12631C>G |
p.P4211A |
Missense |
77/82 |
- |
1 |
7-21932166-C-T |
c.12631C>T |
p.P4211S |
Missense |
77/82 |
- |
2 |
7-21932167-C-T |
c.12632C>T |
p.P4211L |
Missense |
77/82 |
- |
4 |
7-21932169-A-G |
c.12634A>G |
p.N4212D |
Missense |
77/82 |
- |
1 |
7-21932172-G-A |
c.12637G>A |
p.A4213T |
Missense |
77/82 |
- |
1 |
7-21932177-A-G |
c.12642A>G |
p.E4214= |
Synonymous |
77/82 |
- |
1 |
7-21932179-T-C |
c.12644T>C |
p.I4215T |
Missense |
77/82 |
- |
1 |
7-21932181-G-T |
c.12646G>T |
p.E4216* |
Nonsense |
77/82 |
- |
1 |
7-21932182-A-T |
c.12647A>T |
p.E4216V |
Missense |
77/82 |
- |
1 |
7-21932183-AT-A |
c.12650del |
p.F4217Sfs*2 |
Frameshift |
77/82 |
- |
1 |
7-21932186-C-T |
c.12651C>T |
p.F4217= |
Synonymous |
77/82 |
- |
1 |
7-21932187-C-T |
c.12652C>T |
p.L4218= |
Synonymous |
77/82 |
- |
1 |
7-21932189-G-A |
c.12654G>A |
p.L4218= |
Synonymous |
77/82 |
- |
1 |
7-21932189-G-C |
c.12654G>C |
p.L4218= |
Synonymous |
77/82 |
- |
1 |
7-21932189-G-T |
c.12654G>T |
p.L4218= |
Synonymous |
77/82 |
- |
1 |
7-21932192-A-G |
c.12657A>G |
p.T4219= |
Synonymous |
77/82 |
- |
1 |
7-21932193-G-A |
c.12658G>A |
p.V4220M |
Missense |
77/82 |
- |
1 |
7-21932194-T-G |
c.12659T>G |
p.V4220G |
Missense |
77/82 |
- |
1 |
7-21932196-A-C |
c.12661A>C |
p.T4221P |
Missense |
77/82 |
- |
1 |
7-21932199-T-C |
c.12664T>C |
p.S4222P |
Missense |
77/82 |
- |
1 |
7-21932205-A-G |
c.12670A>G |
p.T4224A |
Missense |
77/82 |
- |
1 |
7-21932206-C-A |
c.12671C>A |
p.T4224N |
Missense |
77/82 |
- |
1 |
7-21932209-T-C |
c.12674T>C |
p.L4225P |
Missense |
77/82 |
- |
1 |
7-21932218-C-T |
c.12683C>T |
p.T4228I |
Missense |
77/82 |
- |
2 |
7-21932232-C-A |
c.12697C>A |
p.Q4233K |
Missense |
77/82 |
- |
1 |
7-21932232-C-T |
c.12697C>T |
p.Q4233* |
Nonsense |
77/82 |
- |
6 |
7-21932239-G-A |
c.12704G>A |
p.R4235K |
Missense |
77/82 |
- |
2 |
7-21932238-A-C |
c.12703A>C |
p.R4235= |
Synonymous |
77/82 |
- |
1 |
7-21932240-G-A |
c.12705G>A |
p.R4235= |
Synonymous |
77/82 |
- |
1 |
7-21932241-A-T |
c.12706A>T |
p.N4236Y |
Missense |
77/82 |
- |
1 |
7-21932245-C-A |
c.12710C>A |
p.A4237E |
Missense |
77/82 |
- |
1 |
7-21932247-C-A |
c.12712C>A |
p.L4238I |
Missense |
77/82 |
- |
4 |
7-21932249-C-A |
c.12714C>A |
p.L4238= |
Synonymous |
77/82 |
- |
1 |
7-21932249-C-G |
c.12714C>G |
p.L4238= |
Synonymous |
77/82 |
- |
1 |
7-21932249-C-T |
c.12714C>T |
p.L4238= |
Synonymous |
77/82 |
- |
1 |
7-21932251-G-C |
c.12716G>C |
p.S4239T |
Missense |
77/82 |
- |
1 |
7-21932252-T-C |
c.12717T>C |
p.S4239= |
Synonymous |
77/82 |
- |
1 |
7-21932253-G-A |
c.12718G>A |
p.G4240S |
Missense |
77/82 |
- |
1 |
7-21932258-T-C |
c.12723T>C |
p.D4241= |
Synonymous |
77/82 |
- |
2 |
7-21932262-C-G |
c.12727C>G |
p.L4243V |
Missense |
77/82 |
- |
1 |
7-21932265-G-T |
c.12730G>T |
p.G4244W |
Missense |
77/82 |
- |
1 |
7-21932268-C-A |
c.12733C>A |
p.Q4245K |
Missense |
77/82 |
- |
1 |
7-21932277-G-A |
c.12742G>A |
p.E4248K |
Missense |
77/82 |
- |
1 |
7-21932280-G-C |
c.12745G>C |
p.E4249Q |
Missense |
77/82 |
- |
1 |
7-21932281-A-T |
c.12746A>T |
p.E4249V |
Missense |
77/82 |
- |
3 |
7-21932317-T-C |
c.12750+32T>C |
- |
IntronicSNV |
- |
77/81 |
6 |
7-21932317-T-G |
c.12750+32T>G |
- |
IntronicSNV |
- |
77/81 |
5 |
7-21932318-T-C |
c.12750+33T>C |
- |
IntronicSNV |
- |
77/81 |
1 |
7-21933786-C-T |
c.12751-455C>T |
- |
IntronicSNV |
- |
77/81 |
1 |
7-21934243-T-A |
c.12753T>A |
p.V4251= |
Synonymous |
78/82 |
- |
1 |
7-21934252-C-A |
c.12762C>A |
p.V4254= |
Synonymous |
78/82 |
- |
1 |
7-21934257-A-T |
c.12767A>T |
p.D4256V |
Missense |
78/82 |
- |
1 |
7-21934259-G-A |
c.12769G>A |
p.D4257N |
Missense |
78/82 |
- |
1 |
7-21934259-G-T |
c.12769G>T |
p.D4257Y |
Missense |
78/82 |
- |
4 |
7-21934264-T-A |
c.12774T>A |
p.I4258= |
Synonymous |
78/82 |
- |
2 |
7-21934267-G-A |
c.12777G>A |
p.L4259= |
Synonymous |
78/82 |
- |
1 |
7-21934275-T-C |
c.12785T>C |
p.L4262P |
Missense |
78/82 |
- |
2 |
7-21934278-CCAG-C |
c.12788_12790del |
p.P4263_E4264delinsQ |
MultiAAMissense |
78/82 |
- |
1 |
7-21934280-G-A |
c.12790G>A |
p.E4264K |
Missense |
78/82 |
- |
3 |
7-21934280-G-T |
c.12790G>T |
p.E4264* |
Nonsense |
78/82 |
- |
1 |
7-21934286-TTCAAC-ATA |
c.12796_12801delinsATA |
p.F4266_N4267delinsI |
MultiAAMissense |
78/82 |
- |
4 |
7-21934287-T-C |
c.12797T>C |
p.F4266S |
Missense |
78/82 |
- |
1 |
7-21934293-T-C |
c.12803T>C |
p.M4268T |
Missense |
78/82 |
- |
1 |
7-21934302-T-C |
c.12812T>C |
p.I4271T |
Missense |
78/82 |
- |
1 |
7-21934307-CA-C |
c.12824del |
p.N4275Ifs*18 |
Frameshift |
78/82 |
- |
2 |
7-21934307-C-CA |
c.12824dup |
p.N4275Kfs*4 |
Frameshift |
78/82 |
- |
2 |
7-21934314-A-T |
c.12824A>T |
p.N4275I |
Missense |
78/82 |
- |
1 |
7-21934315-T-A |
c.12825T>A |
p.N4275K |
Missense |
78/82 |
- |
1 |
7-21934316-T-C |
c.12826T>C |
p.S4276P |
Missense |
78/82 |
- |
1 |
7-21934317-C-T |
c.12827C>T |
p.S4276L |
Missense |
78/82 |
- |
1 |
7-21934320-A-G |
c.12830A>G |
p.N4277S |
Missense |
78/82 |
- |
1 |
7-21934323-G-C |
c.12833G>C |
p.R4278T |
Missense |
78/82 |
- |
4 |
7-21934326-G-T |
c.12836G>T |
p.S4279I |
Missense |
78/82 |
- |
1 |
7-21934327-C-T |
c.12837C>T |
p.S4279= |
Synonymous |
78/82 |
- |
1 |
7-21934329-C-CA |
c.12840dup |
p.Y4281Ifs*10 |
Frameshift |
78/82 |
- |
1 |
7-21934331-T-A |
c.12841T>A |
p.Y4281N |
Missense |
78/82 |
- |
2 |
7-21934333-T-A |
c.12843T>A |
p.Y4281* |
Nonsense |
78/82 |
- |
2 |
7-21934333-T-G |
c.12843T>G |
p.Y4281* |
Nonsense |
78/82 |
- |
2 |
7-21934335-T-TA |
c.12845_12846insA |
p.L4283Sfs*8 |
Frameshift |
78/82 |
- |
1 |
7-21934341-T-C |
c.12851T>C |
p.V4284A |
Missense |
78/82 |
- |
1 |
7-21934344-G-C |
c.12854G>C |
p.C4285S |
Missense |
78/82 |
- |
1 |
7-21934348-C-G |
c.12858C>G |
p.F4286L |
Missense |
78/82 |
- |
1 |
7-21934357-T-A |
c.12867T>A |
p.C4289* |
Nonsense |
78/82 |
- |
1 |
7-21934357-TGA-T |
c.12871_12872del |
p.R4291Dfs*13 |
Frameshift |
78/82 |
- |
1 |
7-21934361-AGG-TGT |
c.12871_12873delinsTGT |
p.R4291C |
Missense |
78/82 |
- |
1 |
7-21934362-G-A |
c.12872G>A |
p.R4291K |
Missense |
78/82 |
- |
1 |
7-21934366-G-A |
c.12876G>A |
p.M4292I |
Missense |
78/82 |
- |
3 |
7-21934366-G-C |
c.12876G>C |
p.M4292I |
Missense |
78/82 |
- |
2 |
7-21934366-G-T |
c.12876G>T |
p.M4292I |
Missense |
78/82 |
- |
2 |
7-21934378-T-A |
c.12888T>A |
p.I4296= |
Synonymous |
78/82 |
- |
1 |
7-21934379-C-A |
c.12889C>A |
p.R4297= |
Synonymous |
78/82 |
- |
1 |
7-21934379-C-T |
c.12889C>T |
p.R4297W |
Missense |
78/82 |
- |
1 |
7-21934381-G-C |
c.12891G>C |
p.R4297= |
Synonymous |
78/82 |
- |
1 |
7-21934381-G-T |
c.12891G>T |
p.R4297= |
Synonymous |
78/82 |
- |
1 |
7-21934380-G-A |
c.12890G>A |
p.R4297Q |
Missense |
78/82 |
- |
2 |
7-21934381-G-A |
c.12891G>A |
p.R4297= |
Synonymous |
78/82 |
- |
3 |
7-21934382-G-A |
c.12892G>A |
p.E4298K |
Missense |
78/82 |
- |
1 |
7-21934388-C-T |
c.12898C>T |
p.R4300C |
Missense |
78/82 |
- |
4 |
7-21934389-G-A |
c.12899G>A |
p.R4300H |
Missense |
78/82 |
- |
3 |
7-21934394-T-G |
c.12904T>G |
p.S4302A |
Missense |
78/82 |
- |
1 |
7-21934403-C-A |
c.12913C>A |
p.Q4305K |
Missense |
78/82 |
- |
1 |
7-21934407-T-C |
c.12917T>C |
p.L4306P |
Missense |
78/82 |
- |
1 |
7-21934411-C-A |
c.12921C>A |
p.D4307E |
Missense |
78/82 |
- |
1 |
7-21934415-A-G |
c.12925A>G |
p.S4309G |
Missense |
78/82 |
- |
1 |
7-21934416-G-T |
c.12926G>T |
p.S4309I |
Missense |
78/82 |
- |
1 |
7-21934502-G-A |
c.12934G>A |
p.G4312R |
Missense |
79/82 |
- |
1 |
7-21934502-G-C |
c.12934G>C |
p.G4312R |
Missense |
79/82 |
- |
1 |
7-21934503-G-A |
c.12935G>A |
p.G4312E |
Missense |
79/82 |
- |
2 |
7-21934509-T-C |
c.12941T>C |
p.L4314S |
Missense |
79/82 |
- |
1 |
7-21934511-G-A |
c.12943G>A |
p.A4315T |
Missense |
79/82 |
- |
12 |
7-21934514-T-C |
c.12946T>C |
p.L4316= |
Synonymous |
79/82 |
- |
1 |
7-21934518-C-T |
c.12950C>T |
p.S4317F |
Missense |
79/82 |
- |
1 |
7-21934524-C-A |
c.12956C>A |
p.A4319D |
Missense |
79/82 |
- |
2 |
7-21934526-G-T |
c.12958G>T |
p.V4320L |
Missense |
79/82 |
- |
1 |
7-21934532-G-A |
c.12964G>A |
p.A4322T |
Missense |
79/82 |
- |
4 |
7-21934537-G-C |
c.12969G>C |
p.Q4323H |
Missense |
79/82 |
- |
1 |
7-21934542-T-G |
c.12974T>G |
p.F4325C |
Missense |
79/82 |
- |
2 |
7-21934545-CA-AC |
c.12977_12978delinsAC |
p.A4326D |
Missense |
79/82 |
- |
2 |
7-21934545-C-T |
c.12977C>T |
p.A4326V |
Missense |
79/82 |
- |
1 |
7-21934548-T-C |
c.12980T>C |
p.L4327S |
Missense |
79/82 |
- |
7 |
7-21934552-T-C |
c.12984T>C |
p.S4328= |
Synonymous |
79/82 |
- |
1 |
7-21934560-C-T |
c.12992C>T |
p.T4331M |
Missense |
79/82 |
- |
2 |
7-21934562-G-A |
c.12994G>A |
p.V4332I |
Missense |
79/82 |
- |
2 |
7-21934574-T-G |
c.13006T>G |
p.W4336G |
Missense |
79/82 |
- |
2 |
7-21934575-G-T |
c.13007G>T |
p.W4336L |
Missense |
79/82 |
- |
1 |
7-21934577-A-G |
c.13009A>G |
p.S4337G |
Missense |
79/82 |
- |
1 |
7-21934578-G-A |
c.13010G>A |
p.S4337N |
Missense |
79/82 |
- |
1 |
7-21934587-C-G |
c.13019C>G |
p.A4340G |
Missense |
79/82 |
- |
1 |
7-21934593-C-G |
c.13025C>G |
p.P4342R |
Missense |
79/82 |
- |
1 |
7-21934593-C-T |
c.13025C>T |
p.P4342L |
Missense |
79/82 |
- |
4 |
7-21934600-T-A |
c.13032T>A |
p.T4344= |
Synonymous |
79/82 |
- |
1 |
7-21934600-T-C |
c.13032T>C |
p.T4344= |
Synonymous |
79/82 |
- |
1 |
7-21934600-T-G |
c.13032T>G |
p.T4344= |
Synonymous |
79/82 |
- |
2 |
7-21934614-A-G |
c.13046A>G |
p.Q4349R |
Missense |
79/82 |
- |
1 |
7-21934622-G-A |
c.13049+5G>A |
- |
IntronicSNV |
- |
79/81 |
1 |
7-21935493-G-A |
c.13049+876G>A |
- |
IntronicSNV |
- |
79/81 |
1 |
7-21936698-A-C |
c.13049+2081A>C |
- |
IntronicSNV |
- |
79/81 |
2 |
7-21937988-C-G |
c.13050-966C>G |
- |
IntronicSNV |
- |
79/81 |
2 |
7-21937988-C-T |
c.13050-966C>T |
- |
IntronicSNV |
- |
79/81 |
2 |
7-21938240-C-A |
c.13050-714C>A |
- |
IntronicSNV |
- |
79/81 |
30 |
7-21938240-C-T |
c.13050-714C>T |
- |
IntronicSNV |
- |
79/81 |
30 |
7-21938963-C-T |
c.13059C>T |
p.D4353= |
Synonymous |
80/82 |
- |
1 |
7-21938965-T-A |
c.13061T>A |
p.L4354H |
Missense |
80/82 |
- |
4 |
7-21938962-ACCT-A |
c.13065_13067del |
p.L4356del |
InFrameDeletion |
80/82 |
- |
2 |
7-21938969-C-A |
c.13065C>A |
p.L4355= |
Synonymous |
80/82 |
- |
1 |
7-21938973-C-T |
c.13069C>T |
p.R4357* |
Nonsense |
80/82 |
- |
3 |
7-21938979-C-T |
c.13075C>T |
p.R4359* |
Nonsense |
80/82 |
- |
4 |
7-21938980-G-A |
c.13076G>A |
p.R4359Q |
Missense |
80/82 |
- |
3 |
7-21938980-G-T |
c.13076G>T |
p.R4359L |
Missense |
80/82 |
- |
1 |
7-21938985-C-T |
c.13081C>T |
p.L4361F |
Missense |
80/82 |
- |
2 |
7-21938988-G-A |
c.13084G>A |
p.D4362N |
Missense |
80/82 |
- |
3 |
7-21938988-G-C |
c.13084G>C |
p.D4362H |
Missense |
80/82 |
- |
1 |
7-21938998-C-T |
c.13094C>T |
p.T4365I |
Missense |
80/82 |
- |
1 |
7-21939002-A-G |
c.13098A>G |
p.Q4366= |
Synonymous |
80/82 |
- |
1 |
7-21939004-A-G |
c.13100A>G |
p.D4367G |
Missense |
80/82 |
- |
1 |
7-21939006-C-T |
c.13102C>T |
p.L4368F |
Missense |
80/82 |
- |
1 |
7-21939012-C-G |
c.13108C>G |
p.L4370V |
Missense |
80/82 |
- |
1 |
7-21939016-C-T |
c.13112C>T |
p.P4371L |
Missense |
80/82 |
- |
3 |
7-21939018-G-A |
c.13114G>A |
p.A4372T |
Missense |
80/82 |
- |
1 |
7-21939021-G-A |
c.13117G>A |
p.V4373I |
Missense |
80/82 |
- |
1 |
7-21939023-C-A |
c.13119C>A |
p.V4373= |
Synonymous |
80/82 |
- |
1 |
7-21939023-C-G |
c.13119C>G |
p.V4373= |
Synonymous |
80/82 |
- |
1 |
7-21939023-C-T |
c.13119C>T |
p.V4373= |
Synonymous |
80/82 |
- |
1 |
7-21939024-G-A |
c.13120G>A |
p.V4374M |
Missense |
80/82 |
- |
1 |
7-21939030-C-T |
c.13126C>T |
p.L4376F |
Missense |
80/82 |
- |
1 |
7-21939032-C-A |
c.13128C>A |
p.L4376= |
Synonymous |
80/82 |
- |
18 |
7-21939032-C-G |
c.13128C>G |
p.L4376= |
Synonymous |
80/82 |
- |
18 |
7-21939032-C-T |
c.13128C>T |
p.L4376= |
Synonymous |
80/82 |
- |
2 |
7-21939035-C-A |
c.13131C>A |
p.S4377= |
Synonymous |
80/82 |
- |
2 |
7-21939035-C-G |
c.13131C>G |
p.S4377= |
Synonymous |
80/82 |
- |
2 |
7-21939035-C-T |
c.13131C>T |
p.S4377= |
Synonymous |
80/82 |
- |
2 |
7-21939036-G-C |
c.13132G>C |
p.G4378R |
Missense |
80/82 |
- |
1 |
7-21939039-T-C |
c.13135T>C |
p.F4379L |
Missense |
80/82 |
- |
1 |
7-21939041-C-A |
c.13137C>A |
p.F4379L |
Missense |
80/82 |
- |
1 |
7-21939041-C-G |
c.13137C>G |
p.F4379L |
Missense |
80/82 |
- |
1 |
7-21939056-C-T |
c.13152C>T |
p.S4384= |
Synonymous |
80/82 |
- |
1 |
7-21939074-C-G |
c.13162+8C>G |
- |
IntronicSNV |
- |
80/81 |
1 |
7-21939074-C-T |
c.13162+8C>T |
- |
IntronicSNV |
- |
80/81 |
1 |
7-21939089-C-A |
c.13162+23C>A |
- |
IntronicSNV |
- |
80/81 |
6 |
7-21939251-G-A |
c.13162+185G>A |
- |
IntronicSNV |
- |
80/81 |
1 |
7-21939342-T-A |
c.13163-256T>A |
- |
IntronicSNV |
- |
80/81 |
2 |
7-21939344-T-C |
c.13163-254T>C |
- |
IntronicSNV |
- |
80/81 |
1 |
7-21939344-T-G |
c.13163-254T>G |
- |
IntronicSNV |
- |
80/81 |
1 |
7-21939382-A-G |
c.13163-216A>G |
- |
IntronicSNV |
- |
80/81 |
2 |
7-21939420-A-G |
c.13163-178A>G |
- |
IntronicSNV |
- |
80/81 |
1 |
7-21939485-C-T |
c.13163-113C>T |
- |
IntronicSNV |
- |
80/81 |
3 |
7-21939599-A-AC |
c.13164_13165insC |
p.I4389Hfs*10 |
SpliceAcceptorInsertion |
81/82 |
- |
1 |
7-21939599-A-AG |
c.13164_13165insG |
p.I4389Dfs*10 |
SpliceAcceptorInsertion |
81/82 |
- |
1 |
7-21939599-A-AT |
c.13164_13165insT |
p.I4389Yfs*10 |
SpliceAcceptorInsertion |
81/82 |
- |
1 |
7-21939598-C-CA |
c.13165dup |
p.I4389Nfs*10 |
Frameshift |
81/82 |
- |
1 |
7-21939600-A-G |
c.13165A>G |
p.I4389V |
Missense |
81/82 |
- |
1 |
7-21939606-C-T |
c.13171C>T |
p.Q4391* |
Nonsense |
81/82 |
- |
1 |
7-21939607-A-T |
c.13172A>T |
p.Q4391L |
Missense |
81/82 |
- |
1 |
7-21939610-C-T |
c.13175C>T |
p.T4392M |
Missense |
81/82 |
- |
4 |
7-21939611-G-A |
c.13176G>A |
p.T4392= |
Synonymous |
81/82 |
- |
1 |
7-21939611-G-C |
c.13176G>C |
p.T4392= |
Synonymous |
81/82 |
- |
2 |
7-21939611-G-T |
c.13176G>T |
p.T4392= |
Synonymous |
81/82 |
- |
1 |
7-21939612-A-G |
c.13177A>G |
p.M4393V |
Missense |
81/82 |
- |
2 |
7-21939614-G-T |
c.13179G>T |
p.M4393I |
Missense |
81/82 |
- |
1 |
7-21939618-C-T |
c.13183C>T |
p.R4395* |
Nonsense |
81/82 |
- |
8 |
7-21939619-G-A |
c.13184G>A |
p.R4395Q |
Missense |
81/82 |
- |
2 |
7-21939621-A-C |
c.13186A>C |
p.K4396Q |
Missense |
81/82 |
- |
1 |
7-21939627-G-T |
c.13192G>T |
p.E4398* |
Nonsense |
81/82 |
- |
1 |
7-21939629-G-C |
c.13194G>C |
p.E4398D |
Missense |
81/82 |
- |
1 |
7-21939629-G-T |
c.13194G>T |
p.E4398D |
Missense |
81/82 |
- |
1 |
7-21939634-C-A |
c.13199C>A |
p.P4400H |
Missense |
81/82 |
- |
2 |
7-21939635-C-A |
c.13200C>A |
p.P4400= |
Synonymous |
81/82 |
- |
1 |
7-21939635-C-G |
c.13200C>G |
p.P4400= |
Synonymous |
81/82 |
- |
1 |
7-21939635-C-T |
c.13200C>T |
p.P4400= |
Synonymous |
81/82 |
- |
1 |
7-21939637-T-A |
c.13202T>A |
p.L4401Q |
Missense |
81/82 |
- |
1 |
7-21939642-A-C |
c.13207A>C |
p.K4403Q |
Missense |
81/82 |
- |
1 |
7-21939644-A-G |
c.13209A>G |
p.K4403= |
Synonymous |
81/82 |
- |
1 |
7-21939646-C-T |
c.13211C>T |
p.T4404M |
Missense |
81/82 |
- |
2 |
7-21939648-C-T |
c.13213C>T |
p.R4405C |
Missense |
81/82 |
- |
3 |
7-21939648-GC-G |
c.13213del |
p.R4405Afs*2 |
Frameshift |
81/82 |
- |
2 |
7-21939651-T-G |
c.13216T>G |
p.L4406V |
Missense |
81/82 |
- |
1 |
7-21939660-G-A |
c.13225G>A |
p.D4409N |
Missense |
81/82 |
- |
2 |
7-21939667-CC-TG |
c.13232_13233delinsTG |
p.T4411M |
Missense |
81/82 |
- |
1 |
7-21939667-C-T |
c.13232C>T |
p.T4411I |
Missense |
81/82 |
- |
1 |
7-21939668-C-CT |
c.13233_13234insT |
p.K4412* |
Nonsense |
81/82 |
- |
2 |
7-21939669-A-T |
c.13234A>T |
p.K4412* |
Nonsense |
81/82 |
- |
1 |
7-21939671-A-AT |
c.13236_13237insT |
p.K4413* |
Nonsense |
81/82 |
- |
1 |
7-21939668-CA-C |
c.13240del |
p.T4414Qfs*72 |
Frameshift |
81/82 |
- |
3 |
7-21939668-C-CA |
c.13240dup |
p.T4414Nfs*34 |
Frameshift |
81/82 |
- |
7 |
7-21939676-C-T |
c.13241C>T |
p.T4414I |
Missense |
81/82 |
- |
1 |
7-21939678-A-C |
c.13243A>C |
p.K4415Q |
Missense |
81/82 |
- |
3 |
7-21939681-G-A |
c.13246G>A |
p.E4416K |
Missense |
81/82 |
- |
1 |
7-21939690-G-A |
c.13255G>A |
p.G4419R |
Missense |
81/82 |
- |
1 |
7-21939690-G-GA |
c.13255_13256insA |
p.G4419Efs*29 |
Frameshift |
81/82 |
- |
1 |
7-21939693-C-T |
c.13258C>T |
p.H4420Y |
Missense |
81/82 |
- |
2 |
7-21939694-A-C |
c.13259A>C |
p.H4420P |
Missense |
81/82 |
- |
2 |
7-21939696-C-CA |
c.13261_13262insA |
p.P4421Hfs*27 |
Frameshift |
81/82 |
- |
1 |
7-21939697-C-T |
c.13262C>T |
p.P4421L |
Missense |
81/82 |
- |
5 |
7-21939698-G-A |
c.13263G>A |
p.P4421= |
Synonymous |
81/82 |
- |
2 |
7-21939698-G-C |
c.13263G>C |
p.P4421= |
Synonymous |
81/82 |
- |
3 |
7-21939704-G-A |
c.13269G>A |
p.R4423= |
Synonymous |
81/82 |
- |
1 |
7-21939705-G-C |
c.13270G>C |
p.E4424Q |
Missense |
81/82 |
- |
1 |
7-21939705-G-T |
c.13270G>T |
p.E4424* |
Nonsense |
81/82 |
- |
1 |
7-21939706-A-T |
c.13271A>T |
p.E4424V |
Missense |
81/82 |
- |
1 |
7-21939707-A-C |
c.13272A>C |
p.E4424D |
Missense |
81/82 |
- |
1 |
7-21939707-A-T |
c.13272A>T |
p.E4424D |
Missense |
81/82 |
- |
1 |
7-21939708-G-A |
c.13273G>A |
p.G4425S |
Missense |
81/82 |
- |
3 |
7-21939708-G-T |
c.13273G>T |
p.G4425C |
Missense |
81/82 |
- |
3 |
7-21939714-T-C |
c.13279T>C |
p.Y4427H |
Missense |
81/82 |
- |
1 |
7-21939720-CCACGGACTCTTCAT-C |
c.13285_13298del |
p.H4429Gfs*14 |
Frameshift |
81/82 |
- |
2 |
7-21939722-C-A |
c.13287C>A |
p.H4429Q |
Missense |
81/82 |
- |
1 |
7-21939722-C-G |
c.13287C>G |
p.H4429Q |
Missense |
81/82 |
- |
1 |
7-21939723-G-A |
c.13288G>A |
p.G4430R |
Missense |
81/82 |
- |
5 |
7-21939723-G-C |
c.13288G>C |
p.G4430R |
Missense |
81/82 |
- |
1 |
7-21939723-G-T |
c.13288G>T |
p.G4430* |
Nonsense |
81/82 |
- |
1 |
7-21939724-G-A |
c.13289G>A |
p.G4430E |
Missense |
81/82 |
- |
2 |
7-21940358-A-ATTCTC |
c.13304-264_13304-260dup |
- |
IntronicInsertion |
- |
81/81 |
1 |
7-21940465-T-C |
c.13304-160T>C |
- |
IntronicSNV |
- |
81/81 |
2 |
7-21940480-C-T |
c.13304-145C>T |
- |
IntronicSNV |
- |
81/81 |
2 |
7-21940625-G-A |
c.13304G>A |
p.G4435D |
Missense |
82/82 |
- |
1 |
7-21940625-GCGCCCGCTGGGACA-G |
c.13306_13319del |
p.A4436Pfs*7 |
Frameshift |
82/82 |
- |
1 |
7-21940627-G-A |
c.13306G>A |
p.A4436T |
Missense |
82/82 |
- |
1 |
7-21940627-G-C |
c.13306G>C |
p.A4436P |
Missense |
82/82 |
- |
1 |
7-21940630-C-T |
c.13309C>T |
p.R4437C |
Missense |
82/82 |
- |
2 |
7-21940631-G-A |
c.13310G>A |
p.R4437H |
Missense |
82/82 |
- |
3 |
7-21940651-A-T |
c.13330A>T |
p.T4444S |
Missense |
82/82 |
- |
2 |
7-21940652-C-G |
c.13331C>G |
p.T4444S |
Missense |
82/82 |
- |
2 |
7-21940653-C-CA |
c.13333dup |
p.I4445Nfs*3 |
Frameshift |
82/82 |
- |
1 |
7-21940655-T-C |
c.13334T>C |
p.I4445T |
Missense |
82/82 |
- |
1 |
7-21940657-TGTTGAAGCCCGTCTCAAGGAGCTGGCATGC-T |
c.13336_13365del |
p.V4446_C4455del |
InFrameDeletion |
82/82 |
- |
3 |
7-21940660-G-A |
c.13339G>A |
p.E4447K |
Missense |
82/82 |
- |
1 |
7-21940663-G-A |
c.13342G>A |
p.A4448T |
Missense |
82/82 |
- |
1 |
7-21940666-C-G |
c.13345C>G |
p.R4449G |
Missense |
82/82 |
- |
1 |
7-21940666-C-T |
c.13345C>T |
p.R4449C |
Missense |
82/82 |
- |
2 |
7-21940667-G-A |
c.13346G>A |
p.R4449H |
Missense |
82/82 |
- |
1 |
7-21940672-A-G |
c.13351A>G |
p.K4451E |
Missense |
82/82 |
- |
1 |
7-21940677-G-A |
c.13356G>A |
p.E4452= |
Synonymous |
82/82 |
- |
1 |
7-21940678-C-G |
c.13357C>G |
p.L4453V |
Missense |
82/82 |
- |
2 |
7-21940685-G-A |
c.13364G>A |
p.C4455Y |
Missense |
82/82 |
- |
1 |
7-21940686-C-T |
c.13365C>T |
p.C4455= |
Synonymous |
82/82 |
- |
1 |
7-21940687-C-T |
c.13366C>T |
p.P4456S |
Missense |
82/82 |
- |
4 |
7-21940688-C-A |
c.13367C>A |
p.P4456H |
Missense |
82/82 |
- |
1 |
7-21940694-C-T |
c.13373C>T |
p.P4458L |
Missense |
82/82 |
- |
6 |
7-21940695-G-A |
c.13374G>A |
p.P4458= |
Synonymous |
82/82 |
- |
1 |
7-21940705-G-A |
c.13384G>A |
p.A4462T |
Missense |
82/82 |
- |
1 |
7-21940708-A-G |
c.13387A>G |
p.K4463E |
Missense |
82/82 |
- |
1 |
7-21940719-C-A |
c.13398C>A |
p.P4466= |
Synonymous |
82/82 |
- |
1 |
7-21940719-C-G |
c.13398C>G |
p.P4466= |
Synonymous |
82/82 |
- |
1 |
7-21940719-C-T |
c.13398C>T |
p.P4466= |
Synonymous |
82/82 |
- |
1 |
7-21940720-G-A |
c.13399G>A |
p.V4467M |
Missense |
82/82 |
- |
1 |
7-21940727-G-A |
c.13406G>A |
p.R4469K |
Missense |
82/82 |
- |
1 |
7-21940735-AC-A |
c.13416del |
p.K4473Nfs*13 |
Frameshift |
82/82 |
- |
1 |
7-21940749-C-T |
c.13428C>T |
p.Y4476= |
Synonymous |
82/82 |
- |
3 |
7-21940750-G-A |
c.13429G>A |
p.E4477K |
Missense |
82/82 |
- |
1 |
7-21940751-A-G |
c.13430A>G |
p.E4477G |
Missense |
82/82 |
- |
2 |
7-21940755-C-T |
c.13434C>T |
p.C4478= |
Synonymous |
82/82 |
- |
1 |
7-21940757-C-CCTGTG |
c.13436_13437insCTGTG |
p.V4480Cfs*8 |
Frameshift |
82/82 |
- |
1 |
7-21940759-G-A |
c.13438G>A |
p.V4480M |
Missense |
82/82 |
- |
1 |
7-21940769-C-T |
c.13448C>T |
p.T4483I |
Missense |
82/82 |
- |
1 |
7-21940770-C-A |
c.13449C>A |
p.T4483= |
Synonymous |
82/82 |
- |
1 |
7-21940770-C-T |
c.13449C>T |
p.T4483= |
Synonymous |
82/82 |
- |
2 |
7-21940772-A-C |
c.13451A>C |
p.K4484T |
Missense |
82/82 |
- |
3 |
7-21940776-G-A |
c.13455G>A |
p.L4485= |
Synonymous |
82/82 |
- |
1 |
7-21940778-G-A |
c.13457G>A |
p.R4486K |
Missense |
82/82 |
- |
1 |
7-21940778-G-GA |
c.13458dup |
p.G4487Rfs*33 |
Frameshift |
82/82 |
- |
1 |
7-21940794-C-A |
c.13473C>A |
p.I4491= |
Synonymous |
82/82 |
- |
1 |
7-21940794-C-T |
c.13473C>T |
p.I4491= |
Synonymous |
82/82 |
- |
1 |
7-21940797-G-C |
c.13476G>C |
p.W4492C |
Missense |
82/82 |
- |
1 |
7-21940797-G-T |
c.13476G>T |
p.W4492C |
Missense |
82/82 |
- |
1 |
7-21940799-C-T |
c.13478C>T |
p.T4493I |
Missense |
82/82 |
- |
2 |
7-21940808-T-C |
c.13487T>C |
p.L4496P |
Missense |
82/82 |
- |
1 |
7-21940807-C-T |
c.13486C>T |
p.L4496= |
Synonymous |
82/82 |
- |
3 |
7-21940809-G-A |
c.13488G>A |
p.L4496= |
Synonymous |
82/82 |
- |
3 |
7-21940809-G-C |
c.13488G>C |
p.L4496= |
Synonymous |
82/82 |
- |
3 |
7-21940809-G-T |
c.13488G>T |
p.L4496= |
Synonymous |
82/82 |
- |
3 |
7-21940811-A-G |
c.13490A>G |
p.K4497R |
Missense |
82/82 |
- |
1 |
7-21940813-AG-TT |
c.13492_13493delinsTT |
p.S4498F |
Missense |
82/82 |
- |
1 |
7-21940814-G-A |
c.13493G>A |
p.S4498N |
Missense |
82/82 |
- |
1 |
7-21940815-C-A |
c.13494C>A |
p.S4498R |
Missense |
82/82 |
- |
1 |
7-21940816-G-A |
c.13495G>A |
p.E4499K |
Missense |
82/82 |
- |
5 |
7-21940820-A-C |
c.13499A>C |
p.E4500A |
Missense |
82/82 |
- |
1 |
7-21940821-G-A |
c.13500G>A |
p.E4500= |
Synonymous |
82/82 |
- |
1 |
7-21940821-G-C |
c.13500G>C |
p.E4500D |
Missense |
82/82 |
- |
1 |
7-21940821-G-T |
c.13500G>T |
p.E4500D |
Missense |
82/82 |
- |
1 |
7-21940823-A-G |
c.13502A>G |
p.K4501R |
Missense |
82/82 |
- |
8 |
7-21940824-G-A |
c.13503G>A |
p.K4501= |
Synonymous |
82/82 |
- |
2 |
7-21940837-G-A |
c.13516G>A |
p.V4506I |
Missense |
82/82 |
- |
1 |
7-21940840-TCTG-T |
c.13519_13521del |
p.L4507del |
InFrameDeletion |
82/82 |
- |
1 |
7-21940845-T-A |
c.13524T>A |
p.A4508= |
Synonymous |
82/82 |
- |
1 |
7-21940845-T-C |
c.13524T>C |
p.A4508= |
Synonymous |
82/82 |
- |
1 |
7-21940845-T-G |
c.13524T>G |
p.A4508= |
Synonymous |
82/82 |
- |
1 |
7-21940852-G-GTTCAGGCTGAAGA |
c.13531_13532insTTCAGGCTGAAGA |
p.A4511Vfs*13 |
Frameshift |
82/82 |
- |
2 |
7-21940860-T-G |
c.13539T>G |
p.L4513= |
Synonymous |
82/82 |
- |
2 |
7-21940868-C-T |
c.13547C>T |
p.A4516V |
Missense |
82/82 |
- |
1 |
7-21940869-G-A |
c.13548G>A |
p.A4516= |
Synonymous |
82/82 |
- |
1 |
7-21940869-G-C |
c.13548G>C |
p.A4516= |
Synonymous |
82/82 |
- |
1 |
7-21940960-A-G |
c.*88A>G |
- |
3-UTRSNV |
82/82 |
- |
20 |
7-21941061-C-G |
c.*189C>G |
- |
3-UTRSNV |
82/82 |
- |
2 |
7-21941061-C-T |
c.*189C>T |
- |
3-UTRSNV |
82/82 |
- |
2 |
7-21941439-A-G |
c.*567A>G |
- |
IntergenicSNV |
82/82 |
- |
2 |