7-55086755-G-C |
c.-216G>C |
- |
5-UTRSNV |
1/28 |
- |
38 |
7-55086755-G-T |
c.-216G>T |
- |
5-UTRSNV |
1/28 |
- |
38 |
7-55086780-A-C |
c.-191A>C |
- |
5-UTRSNV |
1/28 |
- |
32 |
7-55086971-A-G |
c.1A>G |
p.M1? |
Missense |
1/28 |
- |
1 |
7-55086972-ATGCGACCCTCCGGGACGGCCGGGGCAGCGCTCCTGGCGCTGCTGGCTGCGCTCTGCCCG-A |
c.2_60del |
p.M1_?20 |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion |
1/28 |
- |
2 |
7-55086973-G-A |
c.3G>A |
p.M1? |
Missense |
1/28 |
- |
1 |
7-55086973-G-T |
c.3G>T |
p.M1? |
Missense |
1/28 |
- |
1 |
7-55086974-C-A |
c.4C>A |
p.R2= |
Synonymous |
1/28 |
- |
136 |
7-55086974-C-G |
c.4C>G |
p.R2G |
Missense |
1/28 |
- |
1 |
7-55086974-CGA-ATG |
c.4_6delinsATG |
p.R2M |
Missense |
1/28 |
- |
1 |
7-55086974-CG-GA |
c.4_5delinsGA |
p.R2E |
Missense |
1/28 |
- |
1 |
7-55086974-C-T |
c.4C>T |
p.R2* |
Nonsense |
1/28 |
- |
8 |
7-55086976-A-C |
c.6A>C |
p.R2= |
Synonymous |
1/28 |
- |
134 |
7-55086976-A-G |
c.6A>G |
p.R2= |
Synonymous |
1/28 |
- |
134 |
7-55086976-A-T |
c.6A>T |
p.R2= |
Synonymous |
1/28 |
- |
134 |
7-55086975-G-A |
c.5G>A |
p.R2Q |
Missense |
1/28 |
- |
2 |
7-55086975-G-C |
c.5G>C |
p.R2P |
Missense |
1/28 |
- |
1 |
7-55086975-G-T |
c.5G>T |
p.R2L |
Missense |
1/28 |
- |
1 |
7-55086977-C-A |
c.7C>A |
p.P3T |
Missense |
1/28 |
- |
2 |
7-55086977-C-T |
c.7C>T |
p.P3S |
Missense |
1/28 |
- |
1 |
7-55086978-C-A |
c.8C>A |
p.P3H |
Missense |
1/28 |
- |
1 |
7-55086978-C-T |
c.8C>T |
p.P3L |
Missense |
1/28 |
- |
5 |
7-55086976-A-AC |
c.9dup |
p.S4Lfs*33 |
Frameshift |
1/28 |
- |
1 |
7-55086979-C-A |
c.9C>A |
p.P3= |
Synonymous |
1/28 |
- |
9 |
7-55086979-C-G |
c.9C>G |
p.P3= |
Synonymous |
1/28 |
- |
8 |
7-55086979-C-T |
c.9C>T |
p.P3= |
Synonymous |
1/28 |
- |
9 |
7-55086977-CCCT-C |
c.10_12del |
p.S4del |
InFrameDeletion |
1/28 |
- |
1 |
7-55086980-T-A |
c.10T>A |
p.S4T |
Missense |
1/28 |
- |
1 |
7-55086980-T-C |
c.10T>C |
p.S4P |
Missense |
1/28 |
- |
1 |
7-55086981-CC-GG |
c.11_12inv |
p.S4W |
Missense |
1/28 |
- |
1 |
7-55086981-C-G |
c.11C>G |
p.S4C |
Missense |
1/28 |
- |
1 |
7-55086981-C-T |
c.11C>T |
p.S4F |
Missense |
1/28 |
- |
1 |
7-55086982-C-A |
c.12C>A |
p.S4= |
Synonymous |
1/28 |
- |
1 |
7-55086982-C-T |
c.12C>T |
p.S4= |
Synonymous |
1/28 |
- |
1 |
7-55086983-G-A |
c.13G>A |
p.G5R |
Missense |
1/28 |
- |
2 |
7-55086983-G-C |
c.13G>C |
p.G5R |
Missense |
1/28 |
- |
4 |
7-55086983-GGG-AGC |
c.13_15delinsAGC |
p.G5S |
Missense |
1/28 |
- |
1 |
7-55086984-G-A |
c.14G>A |
p.G5E |
Missense |
1/28 |
- |
4 |
7-55086984-G-C |
c.14G>C |
p.G5A |
Missense |
1/28 |
- |
3 |
7-55086984-G-T |
c.14G>T |
p.G5V |
Missense |
1/28 |
- |
1 |
7-55086985-G-A |
c.15G>A |
p.G5= |
Synonymous |
1/28 |
- |
1 |
7-55086985-G-C |
c.15G>C |
p.G5= |
Synonymous |
1/28 |
- |
1 |
7-55086985-G-T |
c.15G>T |
p.G5= |
Synonymous |
1/28 |
- |
1 |
7-55086987-C-A |
c.17C>A |
p.T6K |
Missense |
1/28 |
- |
3 |
7-55086987-C-T |
c.17C>T |
p.T6M |
Missense |
1/28 |
- |
3 |
7-55086988-G-A |
c.18G>A |
p.T6= |
Synonymous |
1/28 |
- |
3 |
7-55086988-G-C |
c.18G>C |
p.T6= |
Synonymous |
1/28 |
- |
2 |
7-55086988-G-T |
c.18G>T |
p.T6= |
Synonymous |
1/28 |
- |
2 |
7-55086989-G-A |
c.19G>A |
p.A7T |
Missense |
1/28 |
- |
4 |
7-55086989-G-C |
c.19G>C |
p.A7P |
Missense |
1/28 |
- |
2 |
7-55086989-G-T |
c.19G>T |
p.A7S |
Missense |
1/28 |
- |
2 |
7-55086990-C-A |
c.20C>A |
p.A7D |
Missense |
1/28 |
- |
1 |
7-55086990-C-T |
c.20C>T |
p.A7V |
Missense |
1/28 |
- |
1 |
7-55086991-C-A |
c.21C>A |
p.A7= |
Synonymous |
1/28 |
- |
3 |
7-55086991-C-G |
c.21C>G |
p.A7= |
Synonymous |
1/28 |
- |
1 |
7-55086991-CG-T |
c.21_22delinsT |
p.A9Qfs*71 |
Frameshift |
1/28 |
- |
1 |
7-55086991-C-T |
c.21C>T |
p.A7= |
Synonymous |
1/28 |
- |
2 |
7-55086992-G-A |
c.22G>A |
p.G8R |
Missense |
1/28 |
- |
4 |
7-55086992-G-C |
c.22G>C |
p.G8R |
Missense |
1/28 |
- |
3 |
7-55086992-G-T |
c.22G>T |
p.G8W |
Missense |
1/28 |
- |
1 |
7-55086991-C-CGGCCAGCGT |
c.23_24insCCAGCGTGG |
p.G8_A9insQRG |
InFrameInsertion |
1/28 |
- |
1 |
7-55086993-G-T |
c.23G>T |
p.G8V |
Missense |
1/28 |
- |
1 |
7-55086994-G-GTA |
c.24_25insTA |
p.A9* |
Nonsense |
1/28 |
- |
1 |
7-55086995-G-A |
c.25G>A |
p.A9T |
Missense |
1/28 |
- |
6 |
7-55086996-C-A |
c.26C>A |
p.A9E |
Missense |
1/28 |
- |
1 |
7-55086996-C-T |
c.26C>T |
p.A9V |
Missense |
1/28 |
- |
1 |
7-55086997-A-C |
c.27A>C |
p.A9= |
Synonymous |
1/28 |
- |
2 |
7-55086997-A-G |
c.27A>G |
p.A9= |
Synonymous |
1/28 |
- |
1 |
7-55086997-A-T |
c.27A>T |
p.A9= |
Synonymous |
1/28 |
- |
1 |
7-55086997-A-AG |
c.28dup |
p.A10Gfs*27 |
Frameshift |
1/28 |
- |
1 |
7-55086998-G-A |
c.28G>A |
p.A10T |
Missense |
1/28 |
- |
6 |
7-55086998-G-C |
c.28G>C |
p.A10P |
Missense |
1/28 |
- |
2 |
7-55086998-GC-AA |
c.28_29delinsAA |
p.A10K |
Missense |
1/28 |
- |
1 |
7-55086998-GC-AG |
c.28_29delinsAG |
p.A10R |
Missense |
1/28 |
- |
1 |
7-55086998-GC-AT |
c.28_29delinsAT |
p.A10M |
Missense |
1/28 |
- |
3 |
7-55086998-GC-CT |
c.28_29delinsCT |
p.A10L |
Missense |
1/28 |
- |
2 |
7-55086998-GCG-ATC |
c.28_30delinsATC |
p.A10I |
Missense |
1/28 |
- |
2 |
7-55086998-GCG-CAT |
c.28_30delinsCAT |
p.A10H |
Missense |
1/28 |
- |
2 |
7-55086998-GCG-TAT |
c.28_30delinsTAT |
p.A10Y |
Missense |
1/28 |
- |
4 |
7-55086998-GCG-TGT |
c.28_30delinsTGT |
p.A10C |
Missense |
1/28 |
- |
8 |
7-55086998-GCG-TTT |
c.28_30delinsTTT |
p.A10F |
Missense |
1/28 |
- |
7 |
7-55086998-GC-TA |
c.28_29delinsTA |
p.A10* |
Nonsense |
1/28 |
- |
3 |
7-55086998-G-T |
c.28G>T |
p.A10S |
Missense |
1/28 |
- |
3 |
7-55086999-C-A |
c.29C>A |
p.A10E |
Missense |
1/28 |
- |
9 |
7-55086999-C-G |
c.29C>G |
p.A10G |
Missense |
1/28 |
- |
2 |
7-55086999-CG-AC |
c.29_30delinsAC |
p.A10D |
Missense |
1/28 |
- |
3 |
7-55086999-C-T |
c.29C>T |
p.A10V |
Missense |
1/28 |
- |
1 |
7-55087000-G-A |
c.30G>A |
p.A10= |
Synonymous |
1/28 |
- |
12 |
7-55087000-G-C |
c.30G>C |
p.A10= |
Synonymous |
1/28 |
- |
11 |
7-55087000-G-T |
c.30G>T |
p.A10= |
Synonymous |
1/28 |
- |
11 |
7-55087001-C-G |
c.31C>G |
p.L11V |
Missense |
1/28 |
- |
1 |
7-55087001-CT-AG |
c.31_32inv |
p.L11S |
Missense |
1/28 |
- |
1 |
7-55087001-CTC-GAG |
c.31_33inv |
p.L11E |
Missense |
1/28 |
- |
1 |
7-55087001-CT-GA |
c.31_32delinsGA |
p.L11D |
Missense |
1/28 |
- |
1 |
7-55087001-CT-GC |
c.31_32delinsGC |
p.L11A |
Missense |
1/28 |
- |
1 |
7-55087002-T-C |
c.32T>C |
p.L11P |
Missense |
1/28 |
- |
1 |
7-55087003-C-CGGAGCT |
c.33_34insGGAGCT |
p.L11_L12insGA |
InFrameInsertion |
1/28 |
- |
1 |
7-55087003-C-T |
c.33C>T |
p.L11= |
Synonymous |
1/28 |
- |
1 |
7-55086997-AGCGCTCCTGGCGCTGCTGGCT-A |
c.34_54del |
p.L12_L18del |
InFrameDeletion |
1/28 |
- |
1 |
7-55087004-C-A |
c.34C>A |
p.L12M |
Missense |
1/28 |
- |
2 |
7-55087004-CCTG-C |
c.34_36del |
p.L12del |
InFrameDeletion |
1/28 |
- |
1 |
7-55087004-C-T |
c.34C>T |
p.L12= |
Synonymous |
1/28 |
- |
2 |
7-55087004-CT-GC |
c.34_35delinsGC |
p.L12A |
Missense |
1/28 |
- |
1 |
7-55087004-CTG-GAC |
c.34_36delinsGAC |
p.L12D |
Missense |
1/28 |
- |
1 |
7-55087004-CTG-TGT |
c.34_36delinsTGT |
p.L12C |
Missense |
1/28 |
- |
1 |
7-55087005-T-A |
c.35T>A |
p.L12Q |
Missense |
1/28 |
- |
2 |
7-55087005-T-C |
c.35T>C |
p.L12P |
Missense |
1/28 |
- |
1 |
7-55087006-G-A |
c.36G>A |
p.L12= |
Synonymous |
1/28 |
- |
1 |
7-55087006-G-T |
c.36G>T |
p.L12= |
Synonymous |
1/28 |
- |
1 |
7-55087007-G-A |
c.37G>A |
p.A13T |
Missense |
1/28 |
- |
10 |
7-55087007-G-C |
c.37G>C |
p.A13P |
Missense |
1/28 |
- |
2 |
7-55087007-GC-AT |
c.37_38delinsAT |
p.A13M |
Missense |
1/28 |
- |
1 |
7-55087007-GC-CA |
c.37_38delinsCA |
p.A13Q |
Missense |
1/28 |
- |
1 |
7-55087007-GC-CT |
c.37_38delinsCT |
p.A13L |
Missense |
1/28 |
- |
3 |
7-55087007-GCG-ATC |
c.37_39delinsATC |
p.A13I |
Missense |
1/28 |
- |
2 |
7-55087007-GCG-TAT |
c.37_39delinsTAT |
p.A13Y |
Missense |
1/28 |
- |
2 |
7-55087007-GCG-TGT |
c.37_39delinsTGT |
p.A13C |
Missense |
1/28 |
- |
6 |
7-55087007-GCG-TTT |
c.37_39delinsTTT |
p.A13F |
Missense |
1/28 |
- |
4 |
7-55087007-GC-TA |
c.37_38delinsTA |
p.A13* |
Nonsense |
1/28 |
- |
1 |
7-55087007-GC-TG |
c.37_38delinsTG |
p.A13W |
Missense |
1/28 |
- |
2 |
7-55087007-G-T |
c.37G>T |
p.A13S |
Missense |
1/28 |
- |
10 |
7-55087008-C-A |
c.38C>A |
p.A13E |
Missense |
1/28 |
- |
3 |
7-55087008-C-G |
c.38C>G |
p.A13G |
Missense |
1/28 |
- |
1 |
7-55087008-CG-AC |
c.38_39delinsAC |
p.A13D |
Missense |
1/28 |
- |
6 |
7-55087008-C-T |
c.38C>T |
p.A13V |
Missense |
1/28 |
- |
7 |
7-55087009-G-A |
c.39G>A |
p.A13= |
Synonymous |
1/28 |
- |
6 |
7-55087009-G-C |
c.39G>C |
p.A13= |
Synonymous |
1/28 |
- |
6 |
7-55087009-G-T |
c.39G>T |
p.A13= |
Synonymous |
1/28 |
- |
5 |
7-55087010-C-A |
c.40C>A |
p.L14M |
Missense |
1/28 |
- |
1 |
7-55087010-C-T |
c.40C>T |
p.L14= |
Synonymous |
1/28 |
- |
1 |
7-55087010-CT-GA |
c.40_41delinsGA |
p.L14E |
Missense |
1/28 |
- |
1 |
7-55087010-CTG-ATC |
c.40_42delinsATC |
p.L14I |
Missense |
1/28 |
- |
1 |
7-55087010-CT-GC |
c.40_41delinsGC |
p.L14A |
Missense |
1/28 |
- |
1 |
7-55087010-CT-GG |
c.40_41delinsGG |
p.L14G |
Missense |
1/28 |
- |
1 |
7-55087010-CTG-GAC |
c.40_42delinsGAC |
p.L14D |
Missense |
1/28 |
- |
1 |
7-55087010-CTG-TTT |
c.40_42delinsTTT |
p.L14F |
Missense |
1/28 |
- |
2 |
7-55087011-TG-AT |
c.41_42delinsAT |
p.L14H |
Missense |
1/28 |
- |
2 |
7-55087012-G-A |
c.42G>A |
p.L14= |
Synonymous |
1/28 |
- |
1 |
7-55087013-C-A |
c.43C>A |
p.L15M |
Missense |
1/28 |
- |
3 |
7-55087013-C-G |
c.43C>G |
p.L15V |
Missense |
1/28 |
- |
1 |
7-55087013-C-T |
c.43C>T |
p.L15= |
Synonymous |
1/28 |
- |
1 |
7-55087013-CT-GA |
c.43_44delinsGA |
p.L15E |
Missense |
1/28 |
- |
2 |
7-55087013-CTG-ATC |
c.43_45delinsATC |
p.L15I |
Missense |
1/28 |
- |
1 |
7-55087013-CT-GC |
c.43_44delinsGC |
p.L15A |
Missense |
1/28 |
- |
1 |
7-55087013-CT-GG |
c.43_44delinsGG |
p.L15G |
Missense |
1/28 |
- |
1 |
7-55087013-CTG-GAC |
c.43_45delinsGAC |
p.L15D |
Missense |
1/28 |
- |
1 |
7-55087013-CTG-TTT |
c.43_45delinsTTT |
p.L15F |
Missense |
1/28 |
- |
1 |
7-55087014-T-C |
c.44T>C |
p.L15P |
Missense |
1/28 |
- |
2 |
7-55087014-TG-AT |
c.44_45delinsAT |
p.L15H |
Missense |
1/28 |
- |
1 |
7-55087015-G-A |
c.45G>A |
p.L15= |
Synonymous |
1/28 |
- |
1 |
7-55087016-G-A |
c.46G>A |
p.A16T |
Missense |
1/28 |
- |
3 |
7-55087016-G-C |
c.46G>C |
p.A16P |
Missense |
1/28 |
- |
1 |
7-55087016-GC-AA |
c.46_47delinsAA |
p.A16N |
Missense |
1/28 |
- |
1 |
7-55087016-GC-AT |
c.46_47delinsAT |
p.A16I |
Missense |
1/28 |
- |
1 |
7-55087016-GC-CA |
c.46_47delinsCA |
p.A16H |
Missense |
1/28 |
- |
3 |
7-55087016-GC-CG |
c.46_47delinsCG |
p.A16R |
Missense |
1/28 |
- |
3 |
7-55087016-GC-CT |
c.46_47delinsCT |
p.A16L |
Missense |
1/28 |
- |
2 |
7-55087016-GC-TA |
c.46_47delinsTA |
p.A16Y |
Missense |
1/28 |
- |
3 |
7-55087016-GCT-CAA |
c.46_48delinsCAA |
p.A16Q |
Missense |
1/28 |
- |
2 |
7-55087016-GC-TT |
c.46_47delinsTT |
p.A16F |
Missense |
1/28 |
- |
3 |
7-55087016-GCT-TAA |
c.46_48delinsTAA |
p.A16* |
Nonsense |
1/28 |
- |
1 |
7-55087016-GCT-TGG |
c.46_48delinsTGG |
p.A16W |
Missense |
1/28 |
- |
1 |
7-55087016-G-T |
c.46G>T |
p.A16S |
Missense |
1/28 |
- |
2 |
7-55087017-C-A |
c.47C>A |
p.A16D |
Missense |
1/28 |
- |
8 |
7-55087017-C-G |
c.47C>G |
p.A16G |
Missense |
1/28 |
- |
4 |
7-55087017-C-T |
c.47C>T |
p.A16V |
Missense |
1/28 |
- |
9 |
7-55087017-CT-AG |
c.47_48inv |
p.A16E |
Missense |
1/28 |
- |
3 |
7-55087018-T-A |
c.48T>A |
p.A16= |
Synonymous |
1/28 |
- |
5 |
7-55087018-T-C |
c.48T>C |
p.A16= |
Synonymous |
1/28 |
- |
5 |
7-55087018-T-G |
c.48T>G |
p.A16= |
Synonymous |
1/28 |
- |
5 |
7-55087019-G-A |
c.49G>A |
p.A17T |
Missense |
1/28 |
- |
3 |
7-55087019-GC-AA |
c.49_50delinsAA |
p.A17K |
Missense |
1/28 |
- |
1 |
7-55087019-GC-AG |
c.49_50delinsAG |
p.A17R |
Missense |
1/28 |
- |
2 |
7-55087019-GC-CA |
c.49_50delinsCA |
p.A17Q |
Missense |
1/28 |
- |
2 |
7-55087019-GC-CT |
c.49_50delinsCT |
p.A17L |
Missense |
1/28 |
- |
1 |
7-55087019-GCG-AAC |
c.49_51delinsAAC |
p.A17N |
Missense |
1/28 |
- |
1 |
7-55087019-GCG-TAT |
c.49_51delinsTAT |
p.A17Y |
Missense |
1/28 |
- |
2 |
7-55087019-GCG-TGT |
c.49_51delinsTGT |
p.A17C |
Missense |
1/28 |
- |
1 |
7-55087019-GCG-TTT |
c.49_51delinsTTT |
p.A17F |
Missense |
1/28 |
- |
2 |
7-55087019-GC-TA |
c.49_50delinsTA |
p.A17* |
Nonsense |
1/28 |
- |
8 |
7-55087019-GC-TG |
c.49_50delinsTG |
p.A17W |
Missense |
1/28 |
- |
2 |
7-55087019-G-T |
c.49G>T |
p.A17S |
Missense |
1/28 |
- |
2 |
7-55087020-C-A |
c.50C>A |
p.A17E |
Missense |
1/28 |
- |
4 |
7-55087020-C-G |
c.50C>G |
p.A17G |
Missense |
1/28 |
- |
2 |
7-55087020-CG-AC |
c.50_51delinsAC |
p.A17D |
Missense |
1/28 |
- |
3 |
7-55087020-C-T |
c.50C>T |
p.A17V |
Missense |
1/28 |
- |
6 |
7-55087021-G-A |
c.51G>A |
p.A17= |
Synonymous |
1/28 |
- |
2 |
7-55087021-G-T |
c.51G>T |
p.A17= |
Synonymous |
1/28 |
- |
1 |
7-55087022-C-A |
c.52C>A |
p.L18I |
Missense |
1/28 |
- |
9 |
7-55087022-C-G |
c.52C>G |
p.L18V |
Missense |
1/28 |
- |
1 |
7-55087022-C-T |
c.52C>T |
p.L18F |
Missense |
1/28 |
- |
7 |
7-55087022-CT-GC |
c.52_53delinsGC |
p.L18A |
Missense |
1/28 |
- |
3 |
7-55087023-T-A |
c.53T>A |
p.L18H |
Missense |
1/28 |
- |
1 |
7-55087023-T-G |
c.53T>G |
p.L18R |
Missense |
1/28 |
- |
2 |
7-55087024-C-A |
c.54C>A |
p.L18= |
Synonymous |
1/28 |
- |
1 |
7-55087024-C-T |
c.54C>T |
p.L18= |
Synonymous |
1/28 |
- |
1 |
7-55087025-T-A |
c.55T>A |
p.C19S |
Missense |
1/28 |
- |
2 |
7-55087025-T-C |
c.55T>C |
p.C19R |
Missense |
1/28 |
- |
1 |
7-55087025-T-G |
c.55T>G |
p.C19G |
Missense |
1/28 |
- |
1 |
7-55087025-TG-AC |
c.55_56delinsAC |
p.C19T |
Missense |
1/28 |
- |
2 |
7-55087025-TG-CA |
c.55_56inv |
p.C19H |
Missense |
1/28 |
- |
3 |
7-55087025-TGC-ATG |
c.55_57delinsATG |
p.C19M |
Missense |
1/28 |
- |
1 |
7-55087025-TGC-GAG |
c.55_57delinsGAG |
p.C19E |
Missense |
1/28 |
- |
1 |
7-55087025-TG-GC |
c.55_56delinsGC |
p.C19A |
Missense |
1/28 |
- |
2 |
7-55087026-G-C |
c.56G>C |
p.C19S |
Missense |
1/28 |
- |
4 |
7-55087026-G-A |
c.56G>A |
p.C19Y |
Missense |
1/28 |
- |
2 |
7-55087026-G-T |
c.56G>T |
p.C19F |
Missense |
1/28 |
- |
2 |
7-55087027-C-A |
c.57C>A |
p.C19* |
Nonsense |
1/28 |
- |
5 |
7-55087027-C-T |
c.57C>T |
p.C19= |
Synonymous |
1/28 |
- |
4 |
7-55087028-C-A |
c.58C>A |
p.P20T |
Missense |
1/28 |
- |
3 |
7-55087028-CC-AA |
c.58_59delinsAA |
p.P20K |
Missense |
1/28 |
- |
1 |
7-55087028-CC-GA |
c.58_59delinsGA |
p.P20E |
Missense |
1/28 |
- |
1 |
7-55087028-CCG-GAC |
c.58_60delinsGAC |
p.P20D |
Missense |
1/28 |
- |
2 |
7-55087028-CCG-TGT |
c.58_60delinsTGT |
p.P20C |
Missense |
1/28 |
- |
1 |
7-55087028-CC-TA |
c.58_59delinsTA |
p.P20* |
Nonsense |
1/28 |
- |
1 |
7-55087028-C-T |
c.58C>T |
p.P20S |
Missense |
1/28 |
- |
4 |
7-55087029-C-A |
c.59C>A |
p.P20Q |
Missense |
1/28 |
- |
12 |
7-55087029-C-G |
c.59C>G |
p.P20R |
Missense |
1/28 |
- |
1 |
7-55087029-C-T |
c.59C>T |
p.P20L |
Missense |
1/28 |
- |
8 |
7-55087030-G-A |
c.60G>A |
p.P20= |
Synonymous |
1/28 |
- |
3 |
7-55087030-G-C |
c.60G>C |
p.P20= |
Synonymous |
1/28 |
- |
2 |
7-55087030-GGC-AG |
c.60_62delinsAG |
p.A21Gfs*59 |
Frameshift |
1/28 |
- |
1 |
7-55087030-G-T |
c.60G>T |
p.P20= |
Synonymous |
1/28 |
- |
1 |
7-55087031-G-A |
c.61G>A |
p.A21T |
Missense |
1/28 |
- |
10 |
7-55087031-G-C |
c.61G>C |
p.A21P |
Missense |
1/28 |
- |
1 |
7-55087031-GC-AG |
c.61_62delinsAG |
p.A21R |
Missense |
1/28 |
- |
1 |
7-55087031-GC-CA |
c.61_62delinsCA |
p.A21Q |
Missense |
1/28 |
- |
2 |
7-55087031-GC-CT |
c.61_62delinsCT |
p.A21L |
Missense |
1/28 |
- |
1 |
7-55087031-GCG-TGT |
c.61_63delinsTGT |
p.A21C |
Missense |
1/28 |
- |
1 |
7-55087031-GCG-TTT |
c.61_63delinsTTT |
p.A21F |
Missense |
1/28 |
- |
3 |
7-55087031-G-T |
c.61G>T |
p.A21S |
Missense |
1/28 |
- |
3 |
7-55087032-C-A |
c.62C>A |
p.A21E |
Missense |
1/28 |
- |
5 |
7-55087032-CG-AC |
c.62_63delinsAC |
p.A21D |
Missense |
1/28 |
- |
2 |
7-55087032-C-T |
c.62C>T |
p.A21V |
Missense |
1/28 |
- |
3 |
7-55087033-G-A |
c.63G>A |
p.A21= |
Synonymous |
1/28 |
- |
7 |
7-55087033-G-C |
c.63G>C |
p.A21= |
Synonymous |
1/28 |
- |
6 |
7-55087033-G-T |
c.63G>T |
p.A21= |
Synonymous |
1/28 |
- |
6 |
7-55087034-A-G |
c.64A>G |
p.S22G |
Missense |
1/28 |
- |
1 |
7-55087034-AG-CC |
c.64_65delinsCC |
p.S22P |
Missense |
1/28 |
- |
1 |
7-55087034-AG-CT |
c.64_65inv |
p.S22L |
Missense |
1/28 |
- |
1 |
7-55087034-AG-GA |
c.64_65delinsGA |
p.S22D |
Missense |
1/28 |
- |
3 |
7-55087034-AG-GC |
c.64_65delinsGC |
p.S22A |
Missense |
1/28 |
- |
3 |
7-55087034-AG-TA |
c.64_65delinsTA |
p.S22Y |
Missense |
1/28 |
- |
1 |
7-55087034-AGT-GAG |
c.64_66delinsGAG |
p.S22E |
Missense |
1/28 |
- |
1 |
7-55087034-AG-TT |
c.64_65delinsTT |
p.S22F |
Missense |
1/28 |
- |
1 |
7-55087034-A-T |
c.64A>T |
p.S22C |
Missense |
1/28 |
- |
3 |
7-55087034-GAGTC-G |
c.64_67del |
p.S22Gfs*57 |
Frameshift |
1/28 |
- |
1 |
7-55087033-GAGTCGGGCTCTGGAGGA-G |
c.65_81del |
p.S22Kfs*9 |
Frameshift |
1/28 |
- |
1 |
7-55087035-AG-A |
c.65del |
p.S22Ifs*58 |
Frameshift |
1/28 |
- |
1 |
7-55087035-G-A |
c.65G>A |
p.S22N |
Missense |
1/28 |
- |
9 |
7-55087035-G-T |
c.65G>T |
p.S22I |
Missense |
1/28 |
- |
4 |
7-55087035-GT-TG |
c.65_66delinsTG |
p.S22M |
Missense |
1/28 |
- |
1 |
7-55087034-A-C |
c.64A>C |
p.S22R |
Missense |
1/28 |
- |
3 |
7-55087036-GT-G |
c.66del |
p.R23Gfs*57 |
Frameshift |
1/28 |
- |
1 |
7-55087036-T-A |
c.66T>A |
p.S22R |
Missense |
1/28 |
- |
3 |
7-55087036-T-G |
c.66T>G |
p.S22R |
Missense |
1/28 |
- |
3 |
7-55087037-C-A |
c.67C>A |
p.R23= |
Synonymous |
1/28 |
- |
1 |
7-55087037-C-G |
c.67C>G |
p.R23G |
Missense |
1/28 |
- |
2 |
7-55087037-CG-AT |
c.67_68delinsAT |
p.R23M |
Missense |
1/28 |
- |
1 |
7-55087037-CGG-ATC |
c.67_69delinsATC |
p.R23I |
Missense |
1/28 |
- |
1 |
7-55087037-CG-GC |
c.67_68delinsGC |
p.R23A |
Missense |
1/28 |
- |
1 |
7-55087037-CGG-TGT |
c.67_69delinsTGT |
p.R23C |
Missense |
1/28 |
- |
2 |
7-55087037-CGG-TTT |
c.67_69delinsTTT |
p.R23F |
Missense |
1/28 |
- |
1 |
7-55087037-C-T |
c.67C>T |
p.R23W |
Missense |
1/28 |
- |
10 |
7-55087039-G-T |
c.69G>T |
p.R23= |
Synonymous |
1/28 |
- |
1 |
7-55087038-G-A |
c.68G>A |
p.R23Q |
Missense |
1/28 |
- |
2 |
7-55087038-GG-AT |
c.68_69delinsAT |
p.R23H |
Missense |
1/28 |
- |
1 |
7-55087038-G-T |
c.68G>T |
p.R23L |
Missense |
1/28 |
- |
1 |
7-55087040-G-A |
c.70G>A |
p.A24T |
Missense |
1/28 |
- |
7 |
7-55087040-G-C |
c.70G>C |
p.A24P |
Missense |
1/28 |
- |
6 |
7-55087040-GC-AA |
c.70_71delinsAA |
p.A24N |
Missense |
1/28 |
- |
3 |
7-55087040-GC-CA |
c.70_71delinsCA |
p.A24H |
Missense |
1/28 |
- |
5 |
7-55087040-GC-CG |
c.70_71delinsCG |
p.A24R |
Missense |
1/28 |
- |
4 |
7-55087040-GC-CT |
c.70_71delinsCT |
p.A24L |
Missense |
1/28 |
- |
3 |
7-55087040-GCT-AAG |
c.70_72delinsAAG |
p.A24K |
Missense |
1/28 |
- |
3 |
7-55087040-GCT-ATG |
c.70_72delinsATG |
p.A24M |
Missense |
1/28 |
- |
4 |
7-55087040-GCT-CAA |
c.70_72delinsCAA |
p.A24Q |
Missense |
1/28 |
- |
3 |
7-55087040-GC-TG |
c.70_71delinsTG |
p.A24C |
Missense |
1/28 |
- |
5 |
7-55087040-GC-TT |
c.70_71delinsTT |
p.A24F |
Missense |
1/28 |
- |
3 |
7-55087040-GCT-TAA |
c.70_72delinsTAA |
p.A24* |
Nonsense |
1/28 |
- |
5 |
7-55087040-GCT-TGG |
c.70_72delinsTGG |
p.A24W |
Missense |
1/28 |
- |
3 |
7-55087040-G-T |
c.70G>T |
p.A24S |
Missense |
1/28 |
- |
7 |
7-55087041-C-A |
c.71C>A |
p.A24D |
Missense |
1/28 |
- |
8 |
7-55087041-C-G |
c.71C>G |
p.A24G |
Missense |
1/28 |
- |
2 |
7-55087041-C-T |
c.71C>T |
p.A24V |
Missense |
1/28 |
- |
4 |
7-55087041-CT-AG |
c.71_72inv |
p.A24E |
Missense |
1/28 |
- |
2 |
7-55087042-T-A |
c.72T>A |
p.A24= |
Synonymous |
1/28 |
- |
8 |
7-55087042-T-C |
c.72T>C |
p.A24= |
Synonymous |
1/28 |
- |
8 |
7-55087042-T-G |
c.72T>G |
p.A24= |
Synonymous |
1/28 |
- |
8 |
7-55087043-C-G |
c.73C>G |
p.L25V |
Missense |
1/28 |
- |
1 |
7-55087043-C-T |
c.73C>T |
p.L25= |
Synonymous |
1/28 |
- |
4 |
7-55087043-CTG-ATC |
c.73_75delinsATC |
p.L25I |
Missense |
1/28 |
- |
1 |
7-55087043-CTG-TGT |
c.73_75delinsTGT |
p.L25C |
Missense |
1/28 |
- |
1 |
7-55087043-CTG-TTT |
c.73_75delinsTTT |
p.L25F |
Missense |
1/28 |
- |
1 |
7-55087043-CT-TC |
c.73_74delinsTC |
p.L25S |
Missense |
1/28 |
- |
1 |
7-55087044-CT-C |
c.74del |
p.L25Rfs*55 |
Frameshift |
1/28 |
- |
1 |
7-55087044-T-A |
c.74T>A |
p.L25Q |
Missense |
1/28 |
- |
1 |
7-55087044-T-C |
c.74T>C |
p.L25P |
Missense |
1/28 |
- |
1 |
7-55087044-T-G |
c.74T>G |
p.L25R |
Missense |
1/28 |
- |
1 |
7-55087045-G-A |
c.75G>A |
p.L25= |
Synonymous |
1/28 |
- |
1 |
7-55087046-G-A |
c.76G>A |
p.E26K |
Missense |
1/28 |
- |
3 |
7-55087046-GAG-TGT |
c.76_78delinsTGT |
p.E26C |
Missense |
1/28 |
- |
2 |
7-55087046-G-C |
c.76G>C |
p.E26Q |
Missense |
1/28 |
- |
2 |
7-55087046-G-T |
c.76G>T |
p.E26* |
Nonsense |
1/28 |
- |
1 |
7-55087047-A-C |
c.77A>C |
p.E26A |
Missense |
1/28 |
- |
1 |
7-55087047-A-T |
c.77A>T |
p.E26V |
Missense |
1/28 |
- |
1 |
7-55087048-G-A |
c.78G>A |
p.E26= |
Synonymous |
1/28 |
- |
1 |
7-55087048-G-C |
c.78G>C |
p.E26D |
Missense |
1/28 |
- |
2 |
7-55087048-G-T |
c.78G>T |
p.E26D |
Missense |
1/28 |
- |
3 |
7-55087049-G-A |
c.79G>A |
p.E27K |
Missense |
1/28 |
- |
2 |
7-55087049-GAA-TTT |
c.79_81delinsTTT |
p.E27F |
Missense |
1/28 |
- |
1 |
7-55087049-G-C |
c.79G>C |
p.E27Q |
Missense |
1/28 |
- |
2 |
7-55087050-A-C |
c.80A>C |
p.E27A |
Missense |
1/28 |
- |
2 |
7-55087051-A-AGGC |
c.81_82insGGC |
p.E27_K28insG |
InFrameInsertion |
1/28 |
- |
1 |
7-55087052-AA-CT |
c.82_83delinsCT |
p.K28L |
Missense |
1/28 |
- |
1 |
7-55087052-AA-GC |
c.82_83delinsGC |
p.K28A |
Missense |
1/28 |
- |
1 |
7-55087052-AAG-TAT |
c.82_84delinsTAT |
p.K28Y |
Missense |
1/28 |
- |
1 |
7-55087052-A-C |
c.82A>C |
p.K28Q |
Missense |
1/28 |
- |
2 |
7-55087053-A-C |
c.83A>C |
p.K28T |
Missense |
1/28 |
- |
2 |
7-55087053-A-G |
c.83A>G |
p.K28R |
Missense |
1/28 |
- |
3 |
7-55087053-AG-TC |
c.83_84delinsTC |
p.K28I |
Missense |
1/28 |
- |
2 |
7-55087053-A-T |
c.83A>T |
p.K28M |
Missense |
1/28 |
- |
12 |
7-55087054-G-C |
c.84G>C |
p.K28N |
Missense |
1/28 |
- |
4 |
7-55087054-G-T |
c.84G>T |
p.K28N |
Missense |
1/28 |
- |
6 |
7-55087055-AA-GC |
c.85_86delinsGC |
p.K29A |
Missense |
1/28 |
- |
1 |
7-55087056-A-C |
c.86A>C |
p.K29T |
Missense |
1/28 |
- |
2 |
7-55087056-A-G |
c.86A>G |
p.K29R |
Missense |
1/28 |
- |
8 |
7-55087058-G-A |
c.88G>A |
p.V30I |
Missense |
1/28 |
- |
3 |
7-55087058-G-C |
c.88G>C |
p.V30L |
Missense |
1/28 |
- |
2 |
7-55087058-G-T |
c.88G>T |
p.V30F |
Missense |
1/28 |
- |
1 |
7-55087059-G-A |
c.88+1G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55087060-T-A |
c.88+2T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55087060-T-C |
c.88+2T>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55087062-A-G |
c.88+4A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55087063-G-A |
c.88+5G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55087066-C-A |
c.88+8C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55087066-C-T |
c.88+8C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55087067-G-A |
c.88+9G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55087067-G-T |
c.88+9G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55087071-C-T |
c.88+13C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55087089-G-A |
c.88+31G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55087119-C-A |
c.88+61C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55087121-G-C |
c.88+63G>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55087138-C-G |
c.88+80C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55087139-G-T |
c.88+81G>T |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55087144-G-A |
c.88+86G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55087160-C-T |
c.88+102C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55087625-C-T |
c.88+567C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55088345-G-C |
c.88+1287G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55088345-G-T |
c.88+1287G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55088415-T-C |
c.88+1357T>C |
- |
IntronicSNV |
- |
1/27 |
6 |
7-55088508-T-C |
c.88+1450T>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55088998-G-A |
c.88+1940G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55089451-A-T |
c.88+2393A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55089623-C-T |
c.88+2565C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55089831-A-G |
c.88+2773A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55089963-C-A |
c.88+2905C>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55089963-C-G |
c.88+2905C>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55090000-C-G |
c.88+2942C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55090000-C-T |
c.88+2942C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55090023-G-A |
c.88+2965G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55090048-T-C |
c.88+2990T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55090379-T-C |
c.88+3321T>C |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55090397-G-A |
c.88+3339G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55090413-G-A |
c.88+3355G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55090600-G-T |
c.88+3542G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55090708-G-A |
c.88+3650G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55091299-G-A |
c.88+4241G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55091299-G-T |
c.88+4241G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55091318-C-G |
c.88+4260C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55091318-C-T |
c.88+4260C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55091451-C-T |
c.88+4393C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55091774-T-G |
c.88+4716T>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55092322-T-C |
c.88+5264T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55093789-A-G |
c.88+6731A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55093815-T-C |
c.88+6757T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55093815-T-G |
c.88+6757T>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55093887-A-G |
c.88+6829A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55094263-T-C |
c.88+7205T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55094331-C-T |
c.88+7273C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55094343-G-A |
c.88+7285G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55094576-A-C |
c.88+7518A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55094576-A-G |
c.88+7518A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55094705-G-A |
c.88+7647G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55094988-G-A |
c.88+7930G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55095197-A-G |
c.88+8139A>G |
- |
IntronicSNV |
- |
1/27 |
18 |
7-55097191-G-C |
c.88+10133G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55097762-G-T |
c.88+10704G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55097774-A-G |
c.88+10716A>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55098150-G-A |
c.88+11092G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55098289-T-C |
c.88+11231T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55098344-A-G |
c.88+11286A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55098663-T-C |
c.88+11605T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55099197-G-A |
c.88+12139G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55099290-A-T |
c.88+12232A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55099394-A-C |
c.88+12336A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55099455-G-A |
c.88+12397G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55099455-G-T |
c.88+12397G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55099834-T-C |
c.88+12776T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55099836-C-T |
c.88+12778C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55099973-T-C |
c.88+12915T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55100123-G-T |
c.88+13065G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55100743-A-C |
c.88+13685A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55100743-A-G |
c.88+13685A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55101285-C-A |
c.88+14227C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55101285-C-G |
c.88+14227C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55101501-G-C |
c.88+14443G>C |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55101501-G-T |
c.88+14443G>T |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55101592-A-G |
c.88+14534A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55101680-T-C |
c.88+14622T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55101720-A-G |
c.88+14662A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55101988-C-A |
c.88+14930C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55101988-C-G |
c.88+14930C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55102337-C-A |
c.88+15279C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55102337-C-T |
c.88+15279C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55102519-C-T |
c.88+15461C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55102541-G-A |
c.88+15483G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55102541-G-T |
c.88+15483G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55103093-A-T |
c.88+16035A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55103199-T-A |
c.88+16141T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55103199-T-C |
c.88+16141T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55104061-G-A |
c.88+17003G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55104515-C-G |
c.88+17457C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55104515-C-T |
c.88+17457C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55105176-G-A |
c.88+18118G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55105176-G-C |
c.88+18118G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55105275-G-A |
c.88+18217G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55105320-A-G |
c.88+18262A>G |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55105349-A-C |
c.88+18291A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55106310-T-C |
c.88+19252T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55106421-CTG-C |
c.88+19377_88+19378del |
- |
IntronicDeletion |
- |
1/27 |
1 |
7-55106610-C-T |
c.88+19552C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55107056-T-C |
c.88+19998T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55107056-T-G |
c.88+19998T>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55107196-G-A |
c.88+20138G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55107469-G-A |
c.88+20411G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55107541-G-A |
c.88+20483G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55107541-G-T |
c.88+20483G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55108055-A-G |
c.88+20997A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55108717-A-G |
c.88+21659A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55108730-G-C |
c.88+21672G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55108832-T-A |
c.88+21774T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55108832-T-G |
c.88+21774T>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55108853-C-T |
c.88+21795C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55108994-T-C |
c.88+21936T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55109003-C-T |
c.88+21945C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55109004-G-A |
c.88+21946G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55109052-C-T |
c.88+21994C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55109176-C-T |
c.88+22118C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55109177-A-T |
c.88+22119A>T |
- |
IntronicSNV |
- |
1/27 |
6 |
7-55109182-G-A |
c.88+22124G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55109545-T-A |
c.88+22487T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55109711-G-A |
c.88+22653G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55110424-A-G |
c.88+23366A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55110452-G-A |
c.88+23394G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55110452-G-C |
c.88+23394G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55110460-G-A |
c.88+23402G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55110460-G-C |
c.88+23402G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55110460-G-T |
c.88+23402G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55110669-T-A |
c.88+23611T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55110755-T-A |
c.88+23697T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55110809-G-A |
c.88+23751G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55110809-G-C |
c.88+23751G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55110828-C-T |
c.88+23770C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55110897-G-A |
c.88+23839G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55111806-G-A |
c.88+24748G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55111806-G-T |
c.88+24748G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55112037-A-G |
c.88+24979A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55112037-A-T |
c.88+24979A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55112112-T-C |
c.88+25054T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55112410-G-A |
c.88+25352G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55112410-G-C |
c.88+25352G>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55112426-G-A |
c.88+25368G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55112426-G-C |
c.88+25368G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55112426-G-T |
c.88+25368G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55112698-G-A |
c.88+25640G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55112827-G-A |
c.88+25769G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55112827-G-C |
c.88+25769G>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55112959-T-A |
c.88+25901T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55113001-A-C |
c.88+25943A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55113012-T-C |
c.88+25954T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55113082-C-T |
c.88+26024C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55113095-T-A |
c.88+26037T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55113095-T-G |
c.88+26037T>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55113246-C-T |
c.88+26188C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55113469-G-A |
c.88+26411G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55113748-T-G |
c.88+26690T>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55113796-T-C |
c.88+26738T>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55113920-G-T |
c.88+26862G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55114093-A-C |
c.88+27035A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55114093-A-G |
c.88+27035A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55114316-A-G |
c.88+27258A>G |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55114344-C-G |
c.88+27286C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55114589-G-A |
c.88+27531G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55114721-A-G |
c.88+27663A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55115158-T-C |
c.88+28100T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55115319-C-T |
c.88+28261C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55115887-G-T |
c.88+28829G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55115942-G-A |
c.88+28884G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55115964-A-G |
c.88+28906A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55116555-T-A |
c.88+29497T>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55116707-G-A |
c.88+29649G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55117116-A-G |
c.88+30058A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55117340-C-T |
c.88+30282C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55117572-T-G |
c.88+30514T>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55118445-C-G |
c.88+31387C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55118820-T-C |
c.88+31762T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55118902-G-A |
c.88+31844G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55119501-C-G |
c.88+32443C>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55119835-T-G |
c.88+32777T>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55119943-A-G |
c.88+32885A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55120046-A-G |
c.88+32988A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55120112-A-G |
c.88+33054A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55120500-A-G |
c.88+33442A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55120855-G-A |
c.88+33797G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55120926-T-C |
c.88+33868T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55121259-C-T |
c.88+34201C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55121260-G-A |
c.88+34202G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55121426-C-A |
c.88+34368C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55121426-C-T |
c.88+34368C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55121491-C-T |
c.88+34433C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55121533-A-G |
c.88+34475A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55121533-A-T |
c.88+34475A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55121812-G-A |
c.88+34754G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55121812-G-C |
c.88+34754G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55121871-G-T |
c.88+34813G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55122347-G-T |
c.88+35289G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55122650-G-A |
c.88+35592G>A |
- |
IntronicSNV |
- |
1/27 |
6 |
7-55122804-G-C |
c.88+35746G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55123206-A-G |
c.88+36148A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55123214-A-G |
c.88+36156A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55123668-G-A |
c.88+36610G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55123968-C-A |
c.88+36910C>A |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55123968-C-T |
c.88+36910C>T |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55124202-T-C |
c.88+37144T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55124319-G-A |
c.88+37261G>A |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55124459-G-A |
c.88+37401G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55124521-C-G |
c.88+37463C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55124686-A-G |
c.88+37628A>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55124686-A-T |
c.88+37628A>T |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55124701-T-A |
c.88+37643T>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55124701-T-C |
c.88+37643T>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55124753-G-A |
c.88+37695G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55124772-T-C |
c.88+37714T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55124829-G-A |
c.88+37771G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55124944-G-A |
c.88+37886G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55125897-G-A |
c.88+38839G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55125950-G-A |
c.88+38892G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55125997-A-C |
c.88+38939A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55125997-A-G |
c.88+38939A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55126010-G-A |
c.88+38952G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55126010-G-T |
c.88+38952G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55126160-T-A |
c.88+39102T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55126160-T-C |
c.88+39102T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55126372-C-T |
c.88+39314C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55126547-C-T |
c.88+39489C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55126684-A-G |
c.88+39626A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55126929-C-T |
c.88+39871C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55126998-C-T |
c.88+39940C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55127182-G-T |
c.88+40124G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55127187-C-T |
c.88+40129C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55127423-A-C |
c.88+40365A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55127423-A-G |
c.88+40365A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55127664-A-G |
c.88+40606A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55127784-T-A |
c.88+40726T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55127784-T-G |
c.88+40726T>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55128207-A-G |
c.88+41149A>G |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55128207-A-T |
c.88+41149A>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55128285-T-C |
c.88+41227T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55128330-G-A |
c.88+41272G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55128339-T-G |
c.88+41281T>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55128448-T-C |
c.88+41390T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55128551-A-G |
c.88+41493A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55128561-A-G |
c.88+41503A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55128719-C-T |
c.88+41661C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55128731-A-G |
c.88+41673A>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55129344-A-T |
c.88+42286A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55129356-AGAGAGAGAGACTGTAAACATATATCTCTGTGAAACTTCATTTTCCATATGTGAATTTTT-A |
c.88+42300_88+42358del |
- |
Unclassified |
- |
1/27 |
1 |
7-55130126-C-T |
c.88+43068C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55130220-T-C |
c.88+43162T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55130552-G-A |
c.88+43494G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55130658-C-T |
c.88+43600C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55130814-G-A |
c.88+43756G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55130951-G-A |
c.88+43893G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55131064-C-G |
c.88+44006C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55131359-G-A |
c.88+44301G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55131359-G-C |
c.88+44301G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55131384-C-T |
c.88+44326C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55131488-C-T |
c.88+44430C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55131497-G-A |
c.88+44439G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55131497-G-T |
c.88+44439G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55131572-G-A |
c.88+44514G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55131670-A-C |
c.88+44612A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55131670-A-T |
c.88+44612A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55131686-G-C |
c.88+44628G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55131829-A-G |
c.88+44771A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55131829-A-T |
c.88+44771A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55131988-G-A |
c.88+44930G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55131988-G-T |
c.88+44930G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55132001-G-A |
c.88+44943G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55132080-C-T |
c.88+45022C>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55132150-G-T |
c.88+45092G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55132291-G-A |
c.88+45233G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55132291-G-T |
c.88+45233G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55132533-C-T |
c.88+45475C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55132553-T-C |
c.88+45495T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55132565-C-G |
c.88+45507C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55132565-C-T |
c.88+45507C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55132650-T-TG |
c.88+45594dup |
- |
IntronicInsertion |
- |
1/27 |
1 |
7-55133363-T-A |
c.88+46305T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55133363-T-C |
c.88+46305T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55133401-A-G |
c.88+46343A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55133954-T-A |
c.88+46896T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55134165-C-T |
c.88+47107C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55134260-C-T |
c.88+47202C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55134272-C-T |
c.88+47214C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55134277-G-A |
c.88+47219G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55134817-G-A |
c.88+47759G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55134819-A-G |
c.88+47761A>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55134872-A-G |
c.88+47814A>G |
- |
IntronicSNV |
- |
1/27 |
14 |
7-55135275-G-A |
c.88+48217G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55135338-C-T |
c.88+48280C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55135473-C-T |
c.88+48415C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55135512-C-A |
c.88+48454C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55135512-C-T |
c.88+48454C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55135568-T-C |
c.88+48510T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55135627-G-A |
c.88+48569G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55135666-C-T |
c.88+48608C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55135897-A-G |
c.88+48839A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55136397-C-T |
c.88+49339C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55137080-A-G |
c.88+50022A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55137258-A-G |
c.88+50200A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55137888-G-A |
c.88+50830G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55137949-C-T |
c.88+50891C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55138146-C-T |
c.88+51088C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55138388-C-T |
c.88+51330C>T |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55138832-C-T |
c.88+51774C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55139068-A-G |
c.88+52010A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55139337-T-C |
c.88+52279T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55139463-A-T |
c.88+52405A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55139715-A-G |
c.88+52657A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55139751-C-G |
c.88+52693C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55139997-C-T |
c.88+52939C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55140255-T-C |
c.88+53197T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55140296-C-T |
c.88+53238C>T |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55140398-T-C |
c.88+53340T>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55140786-G-A |
c.88+53728G>A |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55141317-T-C |
c.88+54259T>C |
- |
IntronicSNV |
- |
1/27 |
10 |
7-55141411-G-C |
c.88+54353G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55141476-G-A |
c.88+54418G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55141540-T-C |
c.88+54482T>C |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55141875-G-C |
c.88+54817G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55141875-G-T |
c.88+54817G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55141908-C-T |
c.88+54850C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55142125-C-T |
c.88+55067C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55142212-G-A |
c.88+55154G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55142435-G-A |
c.88+55377G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55142654-A-G |
c.88+55596A>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55142660-A-G |
c.88+55602A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55142911-G-A |
c.88+55853G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55142911-G-T |
c.88+55853G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55142992-G-C |
c.88+55934G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55143320-T-C |
c.88+56262T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55143604-G-A |
c.88+56546G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55143838-T-C |
c.88+56780T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55143867-C-T |
c.88+56809C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55144153-C-T |
c.88+57095C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55144156-T-A |
c.88+57098T>A |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55144156-T-C |
c.88+57098T>C |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55144430-A-G |
c.88+57372A>G |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55144479-A-G |
c.88+57421A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55144683-A-C |
c.88+57625A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55144747-C-A |
c.88+57689C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55144833-C-T |
c.88+57775C>T |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55145173-C-T |
c.88+58115C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55145334-G-A |
c.88+58276G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55145334-G-C |
c.88+58276G>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55145382-C-T |
c.88+58324C>T |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55146021-G-C |
c.88+58963G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55146113-C-T |
c.88+59055C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55146277-C-T |
c.88+59219C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55146291-G-T |
c.88+59233G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55146471-C-T |
c.88+59413C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55146494-G-A |
c.88+59436G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55146877-C-T |
c.88+59819C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55146926-A-G |
c.88+59868A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55147028-G-A |
c.88+59970G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55147478-G-A |
c.88+60420G>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55147592-C-T |
c.88+60534C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55147593-G-A |
c.88+60535G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55147995-T-C |
c.88+60937T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55148154-A-C |
c.88+61096A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55148154-A-G |
c.88+61096A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55148715-G-C |
c.89-61264G>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55148816-C-T |
c.89-61163C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55148817-C-T |
c.89-61162C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55148996-G-A |
c.89-60983G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55148996-G-C |
c.89-60983G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55149521-G-GC |
c.89-60457dup |
- |
IntronicInsertion |
- |
1/27 |
1 |
7-55149706-T-C |
c.89-60273T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55149810-A-G |
c.89-60169A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55149931-T-C |
c.89-60048T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55150130-C-T |
c.89-59849C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55150359-C-A |
c.89-59620C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55150822-A-T |
c.89-59157A>T |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55151537-T-C |
c.89-58442T>C |
- |
IntronicSNV |
- |
1/27 |
7 |
7-55151739-G-A |
c.89-58240G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55151886-G-C |
c.89-58093G>C |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55151886-G-T |
c.89-58093G>T |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55151949-A-AG |
c.89-58027dup |
- |
IntronicInsertion |
- |
1/27 |
1 |
7-55152337-G-A |
c.89-57642G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55152667-G-A |
c.89-57312G>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55152680-G-A |
c.89-57299G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55152722-C-T |
c.89-57257C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55152969-G-T |
c.89-57010G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55153164-T-C |
c.89-56815T>C |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55153237-G-A |
c.89-56742G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55153693-C-T |
c.89-56286C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55153708-A-T |
c.89-56271A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55153742-G-A |
c.89-56237G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55153775-G-A |
c.89-56204G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55154381-G-A |
c.89-55598G>A |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55154444-T-C |
c.89-55535T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55154586-G-A |
c.89-55393G>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55154586-G-C |
c.89-55393G>C |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55154636-T-C |
c.89-55343T>C |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55154688-A-C |
c.89-55291A>C |
- |
IntronicSNV |
- |
1/27 |
6 |
7-55154688-A-T |
c.89-55291A>T |
- |
IntronicSNV |
- |
1/27 |
6 |
7-55154728-C-A |
c.89-55251C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55154756-A-G |
c.89-55223A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55154873-T-A |
c.89-55106T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55154931-C-A |
c.89-55048C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55154931-C-T |
c.89-55048C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55155070-C-G |
c.89-54909C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55155372-C-T |
c.89-54607C>T |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55155490-G-A |
c.89-54489G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55155849-G-T |
c.89-54130G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55155988-G-A |
c.89-53991G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55155988-G-C |
c.89-53991G>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55156010-G-T |
c.89-53969G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55156071-G-A |
c.89-53908G>A |
- |
IntronicSNV |
- |
1/27 |
8 |
7-55156075-G-A |
c.89-53904G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55156365-G-A |
c.89-53614G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55156419-T-A |
c.89-53560T>A |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55156447-G-A |
c.89-53532G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55156483-T-G |
c.89-53496T>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55157028-G-A |
c.89-52951G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55157028-G-C |
c.89-52951G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55157232-T-C |
c.89-52747T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55157312-C-T |
c.89-52667C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55157475-T-C |
c.89-52504T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55157475-T-G |
c.89-52504T>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55157915-T-C |
c.89-52064T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55158025-G-A |
c.89-51954G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55158031-G-A |
c.89-51948G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55158048-G-A |
c.89-51931G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55158201-A-G |
c.89-51778A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55158201-A-T |
c.89-51778A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55158260-A-C |
c.89-51719A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55158470-C-G |
c.89-51509C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55158470-C-T |
c.89-51509C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55159109-G-A |
c.89-50870G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55159349-A-G |
c.89-50630A>G |
- |
IntronicSNV |
- |
1/27 |
42 |
7-55159349-A-T |
c.89-50630A>T |
- |
IntronicSNV |
- |
1/27 |
42 |
7-55159479-A-G |
c.89-50500A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55159583-A-C |
c.89-50396A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55159857-G-A |
c.89-50122G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55159875-G-C |
c.89-50104G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55159983-A-G |
c.89-49996A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55160160-C-T |
c.89-49819C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55160538-A-G |
c.89-49441A>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55160590-A-T |
c.89-49389A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55160857-C-T |
c.89-49122C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55160995-T-A |
c.89-48984T>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55160995-T-C |
c.89-48984T>C |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55161043-G-A |
c.89-48936G>A |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55161043-G-C |
c.89-48936G>C |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55161043-G-T |
c.89-48936G>T |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55161056-T-C |
c.89-48923T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55161151-T-C |
c.89-48828T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55161151-T-G |
c.89-48828T>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55161156-G-A |
c.89-48823G>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55161167-T-C |
c.89-48812T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55161238-C-T |
c.89-48741C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55161372-C-T |
c.89-48607C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55161637-G-A |
c.89-48342G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55161746-T-C |
c.89-48233T>C |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55161841-G-T |
c.89-48138G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55162011-C-T |
c.89-47968C>T |
- |
IntronicSNV |
- |
1/27 |
7 |
7-55162305-A-G |
c.89-47674A>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55162336-T-C |
c.89-47643T>C |
- |
IntronicSNV |
- |
1/27 |
8 |
7-55162806-T-C |
c.89-47173T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55162868-G-A |
c.89-47111G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55162868-G-T |
c.89-47111G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55163082-A-T |
c.89-46897A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55163231-G-A |
c.89-46748G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55163255-T-C |
c.89-46724T>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55163494-C-T |
c.89-46485C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55163502-C-A |
c.89-46477C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55163502-C-G |
c.89-46477C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55163502-C-T |
c.89-46477C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55163582-C-G |
c.89-46397C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55163737-C-G |
c.89-46242C>G |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55163737-C-T |
c.89-46242C>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55163752-A-T |
c.89-46227A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55163867-G-A |
c.89-46112G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55164036-T-C |
c.89-45943T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55164081-C-A |
c.89-45898C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55164081-C-T |
c.89-45898C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55164337-C-T |
c.89-45642C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55164484-G-A |
c.89-45495G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55164642-C-T |
c.89-45337C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55164994-C-G |
c.89-44985C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55164994-C-T |
c.89-44985C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55165402-G-C |
c.89-44577G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55165460-G-A |
c.89-44519G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55165460-G-T |
c.89-44519G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55165895-C-T |
c.89-44084C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55165996-G-A |
c.89-43983G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55165996-G-T |
c.89-43983G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55165999-G-A |
c.89-43980G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55166135-T-C |
c.89-43844T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55166368-C-A |
c.89-43611C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55166769-T-C |
c.89-43210T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55166804-C-G |
c.89-43175C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55167063-C-T |
c.89-42916C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55167066-T-C |
c.89-42913T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55167145-G-A |
c.89-42834G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55167627-C-G |
c.89-42352C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55167753-G-A |
c.89-42226G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55167881-T-C |
c.89-42098T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55168063-C-T |
c.89-41916C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55168193-A-G |
c.89-41786A>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55168692-A-G |
c.89-41287A>G |
- |
IntronicSNV |
- |
1/27 |
9 |
7-55168733-G-C |
c.89-41246G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55168749-C-A |
c.89-41230C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55168749-C-T |
c.89-41230C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55168803-C-T |
c.89-41176C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55168912-C-T |
c.89-41067C>T |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55169009-A-G |
c.89-40970A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55169069-T-C |
c.89-40910T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55169291-A-G |
c.89-40688A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55169306-T-C |
c.89-40673T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55169672-C-A |
c.89-40307C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55169672-C-G |
c.89-40307C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55169672-C-T |
c.89-40307C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55169785-G-A |
c.89-40194G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55169785-G-C |
c.89-40194G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55169967-T-G |
c.89-40012T>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55170159-A-C |
c.89-39820A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55170159-A-G |
c.89-39820A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55170465-T-A |
c.89-39514T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55170578-A-T |
c.89-39401A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55170883-C-T |
c.89-39096C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55171150-A-C |
c.89-38829A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55171190-G-A |
c.89-38789G>A |
- |
IntronicSNV |
- |
1/27 |
6 |
7-55171334-A-G |
c.89-38645A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55171468-C-T |
c.89-38511C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55171629-A-G |
c.89-38350A>G |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55171636-T-C |
c.89-38343T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55172125-C-G |
c.89-37854C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55172325-T-C |
c.89-37654T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55172768-T-C |
c.89-37211T>C |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55172842-G-C |
c.89-37137G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55173675-C-G |
c.89-36304C>G |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55173675-C-T |
c.89-36304C>T |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55173695-C-A |
c.89-36284C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55173695-C-T |
c.89-36284C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55173700-T-C |
c.89-36279T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55173995-C-A |
c.89-35984C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55173995-C-T |
c.89-35984C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55174031-A-G |
c.89-35948A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55174071-C-G |
c.89-35908C>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55174342-C-A |
c.89-35637C>A |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55175603-T-A |
c.89-34376T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55175876-A-G |
c.89-34103A>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55176695-C-T |
c.89-33284C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55176696-G-A |
c.89-33283G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55176696-G-C |
c.89-33283G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55176696-G-T |
c.89-33283G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55177232-G-A |
c.89-32747G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55177232-G-C |
c.89-32747G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55177641-C-T |
c.89-32338C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55177699-C-T |
c.89-32280C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55177869-C-T |
c.89-32110C>T |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55178111-C-T |
c.89-31868C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55178158-C-T |
c.89-31821C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55178579-T-G |
c.89-31400T>G |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55179209-G-A |
c.89-30770G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55179209-G-T |
c.89-30770G>T |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55179400-T-G |
c.89-30579T>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55179844-G-A |
c.89-30135G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55179844-G-T |
c.89-30135G>T |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55179935-G-C |
c.89-30044G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55180110-C-A |
c.89-29869C>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55180979-G-T |
c.89-29000G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55181361-G-A |
c.89-28618G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55181442-G-A |
c.89-28537G>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55181442-G-T |
c.89-28537G>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55181798-C-T |
c.89-28181C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55182064-A-G |
c.89-27915A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55182253-C-A |
c.89-27726C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55182494-G-A |
c.89-27485G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55182730-G-A |
c.89-27249G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55183115-C-A |
c.89-26864C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55183121-T-C |
c.89-26858T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55184778-A-G |
c.89-25201A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55184912-A-G |
c.89-25067A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55185076-G-A |
c.89-24903G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55185302-A-G |
c.89-24677A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55185302-A-T |
c.89-24677A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55185890-C-T |
c.89-24089C>T |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55186223-T-C |
c.89-23756T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55186456-A-C |
c.89-23523A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55186456-A-T |
c.89-23523A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55186800-C-T |
c.89-23179C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55186831-G-A |
c.89-23148G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55186831-G-C |
c.89-23148G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55187053-C-A |
c.89-22926C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55187090-T-C |
c.89-22889T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55187138-G-A |
c.89-22841G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55187835-T-A |
c.89-22144T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55187992-G-A |
c.89-21987G>A |
- |
IntronicSNV |
- |
1/27 |
10 |
7-55189190-C-T |
c.89-20789C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55189215-G-T |
c.89-20764G>T |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55190098-A-C |
c.89-19881A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55190098-A-T |
c.89-19881A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55190201-G-A |
c.89-19778G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55190201-G-T |
c.89-19778G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55190489-C-T |
c.89-19490C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55190672-C-A |
c.89-19307C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55190730-T-C |
c.89-19249T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55190865-G-A |
c.89-19114G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55191548-G-A |
c.89-18431G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55191548-G-C |
c.89-18431G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55192256-A-C |
c.89-17723A>C |
- |
IntronicSNV |
- |
1/27 |
8 |
7-55192617-C-T |
c.89-17362C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55192790-G-A |
c.89-17189G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55192963-T-G |
c.89-17016T>G |
- |
IntronicSNV |
- |
1/27 |
9 |
7-55193053-A-C |
c.89-16926A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55193053-A-G |
c.89-16926A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55193708-G-A |
c.89-16271G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55193708-G-T |
c.89-16271G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55195344-A-T |
c.89-14635A>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55195625-G-A |
c.89-14354G>A |
- |
IntronicSNV |
- |
1/27 |
6 |
7-55195720-G-T |
c.89-14259G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55195947-C-T |
c.89-14032C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55196572-A-T |
c.89-13407A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55196855-T-C |
c.89-13124T>C |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55196909-G-T |
c.89-13070G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55197390-C-T |
c.89-12589C>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55198208-G-A |
c.89-11771G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55198347-C-T |
c.89-11632C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55198543-G-A |
c.89-11436G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55198811-T-A |
c.89-11168T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55199325-C-T |
c.89-10654C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55199652-A-C |
c.89-10327A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55200398-G-C |
c.89-9581G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55200512-G-A |
c.89-9467G>A |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55200512-G-T |
c.89-9467G>T |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55200625-A-G |
c.89-9354A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55200893-G-A |
c.89-9086G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55201033-T-C |
c.89-8946T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55201394-G-A |
c.89-8585G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55201536-T-G |
c.89-8443T>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55201776-G-A |
c.89-8203G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55201776-G-C |
c.89-8203G>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55202598-G-A |
c.89-7381G>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55202652-G-A |
c.89-7327G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55203098-G-T |
c.89-6881G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55203297-A-C |
c.89-6682A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55203297-A-T |
c.89-6682A>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55203359-T-C |
c.89-6620T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55203838-G-A |
c.89-6141G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55203838-G-C |
c.89-6141G>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55203978-C-G |
c.89-6001C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55203978-C-T |
c.89-6001C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55204072-T-A |
c.89-5907T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55204108-C-A |
c.89-5871C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55204108-C-T |
c.89-5871C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55204109-G-A |
c.89-5870G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55204162-A-G |
c.89-5817A>G |
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IntronicSNV |
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1/27 |
1 |
7-55204196-A-C |
c.89-5783A>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55204486-T-C |
c.89-5493T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55205904-T-C |
c.89-4075T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55205904-T-G |
c.89-4075T>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55205930-A-T |
c.89-4049A>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55206143-C-T |
c.89-3836C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55206406-A-G |
c.89-3573A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55206680-G-A |
c.89-3299G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55206854-C-T |
c.89-3125C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55206861-G-T |
c.89-3118G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55207105-A-G |
c.89-2874A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55207220-G-A |
c.89-2759G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55207249-G-A |
c.89-2730G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55208277-G-A |
c.89-1702G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55208284-C-A |
c.89-1695C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55208352-G-A |
c.89-1627G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55209081-T-C |
c.89-898T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55209353-C-T |
c.89-626C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55209428-T-A |
c.89-551T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55209637-C-A |
c.89-342C>A |
- |
IntronicSNV |
- |
1/27 |
6 |
7-55209712-T-C |
c.89-267T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55209905-C-A |
c.89-74C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55209905-C-T |
c.89-74C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55209979-GTTTGCCAAGGCACGAGTAACAAGCTCACGCAGTTGGGCACTTTTGAAGATCATTTTCTC-G |
c.89_147del |
p.V30Efs*8 |
Unclassified |
2/28 |
- |
4 |
7-55209979-T-A |
c.89T>A |
p.V30D |
Missense |
2/28 |
- |
1 |
7-55209979-T-C |
c.89T>C |
p.V30A |
Missense |
2/28 |
- |
2 |
7-55209979-TT-AG |
c.89_90delinsAG |
p.V30E |
Missense |
2/28 |
- |
1 |
7-55209980-T-A |
c.90T>A |
p.V30= |
Synonymous |
2/28 |
- |
1 |
7-55209980-T-C |
c.90T>C |
p.V30= |
Synonymous |
2/28 |
- |
1 |
7-55209980-T-G |
c.90T>G |
p.V30= |
Synonymous |
2/28 |
- |
2 |
7-55209980-T-TA |
c.90_91insA |
p.C31Mfs*6 |
SpliceAcceptorInsertion |
2/28 |
- |
2 |
7-55209980-T-TC |
c.90_91insC |
p.C31Lfs*6 |
SpliceAcceptorInsertion |
2/28 |
- |
2 |
7-55209980-T-TG |
c.90_91insG |
p.C31Vfs*6 |
SpliceAcceptorInsertion |
2/28 |
- |
2 |
7-55209978-G-GT |
c.91dup |
p.C31Lfs*6 |
Frameshift |
2/28 |
- |
3 |
7-55209981-T-A |
c.91T>A |
p.C31S |
Missense |
2/28 |
- |
1 |
7-55209981-T-C |
c.91T>C |
p.C31R |
Missense |
2/28 |
- |
1 |
7-55209981-TG-AC |
c.91_92delinsAC |
p.C31T |
Missense |
2/28 |
- |
1 |
7-55209981-TGC-GAG |
c.91_93delinsGAG |
p.C31E |
Missense |
2/28 |
- |
2 |
7-55209981-TG-GC |
c.91_92delinsGC |
p.C31A |
Missense |
2/28 |
- |
1 |
7-55209981-TTGCCAAGGCACGAGTAACAAG-T |
c.91_111del |
p.C31_K37del |
InFrameDeletion |
2/28 |
- |
1 |
7-55209981-TTGC-T |
c.91_93del |
p.C31del |
InFrameDeletion |
2/28 |
- |
1 |
7-55209982-G-C |
c.92G>C |
p.C31S |
Missense |
2/28 |
- |
1 |
7-55209982-G-A |
c.92G>A |
p.C31Y |
Missense |
2/28 |
- |
1 |
7-55209982-G-T |
c.92G>T |
p.C31F |
Missense |
2/28 |
- |
3 |
7-55209982-TG-T |
c.92del |
p.C31Sfs*49 |
Frameshift |
2/28 |
- |
1 |
7-55209983-C-A |
c.93C>A |
p.C31* |
Nonsense |
2/28 |
- |
2 |
7-55209983-C-T |
c.93C>T |
p.C31= |
Synonymous |
2/28 |
- |
5 |
7-55209984-C-A |
c.94C>A |
p.Q32K |
Missense |
2/28 |
- |
5 |
7-55209984-CAA-AAC |
c.94_96delinsAAC |
p.Q32N |
Missense |
2/28 |
- |
1 |
7-55209984-CA-GC |
c.94_95delinsGC |
p.Q32A |
Missense |
2/28 |
- |
1 |
7-55209985-A-G |
c.95A>G |
p.Q32R |
Missense |
2/28 |
- |
3 |
7-55209987-G-A |
c.97G>A |
p.G33S |
Missense |
2/28 |
- |
8 |
7-55209987-GG-AA |
c.97_98delinsAA |
p.G33N |
Missense |
2/28 |
- |
2 |
7-55209987-GGC-AAG |
c.97_99delinsAAG |
p.G33K |
Missense |
2/28 |
- |
2 |
7-55209987-G-T |
c.97G>T |
p.G33C |
Missense |
2/28 |
- |
1 |
7-55209988-G-A |
c.98G>A |
p.G33D |
Missense |
2/28 |
- |
3 |
7-55209988-G-C |
c.98G>C |
p.G33A |
Missense |
2/28 |
- |
1 |
7-55209989-C-A |
c.99C>A |
p.G33= |
Synonymous |
2/28 |
- |
1 |
7-55209990-ACG-TGT |
c.100_102delinsTGT |
p.T34C |
Missense |
2/28 |
- |
1 |
7-55209990-A-G |
c.100A>G |
p.T34A |
Missense |
2/28 |
- |
20 |
7-55209991-C-A |
c.101C>A |
p.T34K |
Missense |
2/28 |
- |
1 |
7-55209991-C-G |
c.101C>G |
p.T34R |
Missense |
2/28 |
- |
5 |
7-55209991-CG-AC |
c.101_102delinsAC |
p.T34N |
Missense |
2/28 |
- |
5 |
7-55209991-CG-TC |
c.101_102delinsTC |
p.T34I |
Missense |
2/28 |
- |
1 |
7-55209991-C-T |
c.101C>T |
p.T34M |
Missense |
2/28 |
- |
7 |
7-55209992-G-A |
c.102G>A |
p.T34= |
Synonymous |
2/28 |
- |
1 |
7-55209992-G-T |
c.102G>T |
p.T34= |
Synonymous |
2/28 |
- |
1 |
7-55209993-AG-CC |
c.103_104delinsCC |
p.S35P |
Missense |
2/28 |
- |
1 |
7-55209993-AG-CT |
c.103_104inv |
p.S35L |
Missense |
2/28 |
- |
1 |
7-55209993-AG-GA |
c.103_104delinsGA |
p.S35D |
Missense |
2/28 |
- |
2 |
7-55209993-AG-GC |
c.103_104delinsGC |
p.S35A |
Missense |
2/28 |
- |
6 |
7-55209993-AG-TA |
c.103_104delinsTA |
p.S35Y |
Missense |
2/28 |
- |
1 |
7-55209993-AG-TT |
c.103_104delinsTT |
p.S35F |
Missense |
2/28 |
- |
1 |
7-55209993-A-T |
c.103A>T |
p.S35C |
Missense |
2/28 |
- |
1 |
7-55209994-G-A |
c.104G>A |
p.S35N |
Missense |
2/28 |
- |
5 |
7-55209994-G-T |
c.104G>T |
p.S35I |
Missense |
2/28 |
- |
2 |
7-55209996-AAC-CAA |
c.106_108delinsCAA |
p.N36Q |
Missense |
2/28 |
- |
1 |
7-55209996-A-G |
c.106A>G |
p.N36D |
Missense |
2/28 |
- |
1 |
7-55209998-C-A |
c.108C>A |
p.N36K |
Missense |
2/28 |
- |
1 |
7-55209999-A-C |
c.109A>C |
p.K37Q |
Missense |
2/28 |
- |
1 |
7-55209999-A-G |
c.109A>G |
p.K37E |
Missense |
2/28 |
- |
3 |
7-55210000-A-G |
c.110A>G |
p.K37R |
Missense |
2/28 |
- |
1 |
7-55210000-AG-TC |
c.110_111delinsTC |
p.K37I |
Missense |
2/28 |
- |
1 |
7-55210000-A-T |
c.110A>T |
p.K37M |
Missense |
2/28 |
- |
4 |
7-55210001-G-A |
c.111G>A |
p.K37= |
Synonymous |
2/28 |
- |
1 |
7-55210001-G-T |
c.111G>T |
p.K37N |
Missense |
2/28 |
- |
3 |
7-55210002-C-A |
c.112C>A |
p.L38I |
Missense |
2/28 |
- |
1 |
7-55210002-C-G |
c.112C>G |
p.L38V |
Missense |
2/28 |
- |
8 |
7-55210002-C-T |
c.112C>T |
p.L38F |
Missense |
2/28 |
- |
2 |
7-55210002-CT-GA |
c.112_113delinsGA |
p.L38D |
Missense |
2/28 |
- |
1 |
7-55210003-T-A |
c.113T>A |
p.L38H |
Missense |
2/28 |
- |
1 |
7-55210004-C-A |
c.114C>A |
p.L38= |
Synonymous |
2/28 |
- |
1 |
7-55210005-A-C |
c.115A>C |
p.T39P |
Missense |
2/28 |
- |
1 |
7-55210005-A-G |
c.115A>G |
p.T39A |
Missense |
2/28 |
- |
2 |
7-55210005-A-T |
c.115A>T |
p.T39S |
Missense |
2/28 |
- |
2 |
7-55210006-C-A |
c.116C>A |
p.T39K |
Missense |
2/28 |
- |
2 |
7-55210006-CG-AC |
c.116_117delinsAC |
p.T39N |
Missense |
2/28 |
- |
3 |
7-55210006-C-T |
c.116C>T |
p.T39M |
Missense |
2/28 |
- |
12 |
7-55210007-G-A |
c.117G>A |
p.T39= |
Synonymous |
2/28 |
- |
3 |
7-55210007-G-C |
c.117G>C |
p.T39= |
Synonymous |
2/28 |
- |
1 |
7-55210007-G-T |
c.117G>T |
p.T39= |
Synonymous |
2/28 |
- |
3 |
7-55210008-C-A |
c.118C>A |
p.Q40K |
Missense |
2/28 |
- |
2 |
7-55210008-CA-AT |
c.118_119delinsAT |
p.Q40M |
Missense |
2/28 |
- |
1 |
7-55210008-C-T |
c.118C>T |
p.Q40* |
Nonsense |
2/28 |
- |
1 |
7-55210009-A-C |
c.119A>C |
p.Q40P |
Missense |
2/28 |
- |
3 |
7-55210009-A-T |
c.119A>T |
p.Q40L |
Missense |
2/28 |
- |
1 |
7-55210010-AG-A |
c.120del |
p.Q40Hfs*40 |
Frameshift |
2/28 |
- |
1 |
7-55210010-G-A |
c.120G>A |
p.Q40= |
Synonymous |
2/28 |
- |
6 |
7-55210010-G-C |
c.120G>C |
p.Q40H |
Missense |
2/28 |
- |
2 |
7-55210010-G-T |
c.120G>T |
p.Q40H |
Missense |
2/28 |
- |
3 |
7-55210011-T-C |
c.121T>C |
p.L41= |
Synonymous |
2/28 |
- |
2 |
7-55210011-TT-GA |
c.121_122delinsGA |
p.L41E |
Missense |
2/28 |
- |
2 |
7-55210013-G-A |
c.123G>A |
p.L41= |
Synonymous |
2/28 |
- |
3 |
7-55210012-T-C |
c.122T>C |
p.L41S |
Missense |
2/28 |
- |
2 |
7-55210012-T-G |
c.122T>G |
p.L41W |
Missense |
2/28 |
- |
2 |
7-55210013-G-T |
c.123G>T |
p.L41F |
Missense |
2/28 |
- |
1 |
7-55210014-G-A |
c.124G>A |
p.G42S |
Missense |
2/28 |
- |
4 |
7-55210014-G-C |
c.124G>C |
p.G42R |
Missense |
2/28 |
- |
1 |
7-55210014-GGC-TGA |
c.124_126delinsTGA |
p.G42* |
Nonsense |
2/28 |
- |
1 |
7-55210014-GGC-TGG |
c.124_126delinsTGG |
p.G42W |
Missense |
2/28 |
- |
2 |
7-55210014-G-T |
c.124G>T |
p.G42C |
Missense |
2/28 |
- |
3 |
7-55210015-G-A |
c.125G>A |
p.G42D |
Missense |
2/28 |
- |
6 |
7-55210015-G-C |
c.125G>C |
p.G42A |
Missense |
2/28 |
- |
1 |
7-55210015-G-T |
c.125G>T |
p.G42V |
Missense |
2/28 |
- |
2 |
7-55210016-C-A |
c.126C>A |
p.G42= |
Synonymous |
2/28 |
- |
2 |
7-55210016-C-G |
c.126C>G |
p.G42= |
Synonymous |
2/28 |
- |
1 |
7-55210016-C-T |
c.126C>T |
p.G42= |
Synonymous |
2/28 |
- |
1 |
7-55210017-A-C |
c.127A>C |
p.T43P |
Missense |
2/28 |
- |
1 |
7-55210017-AC-GA |
c.127_128delinsGA |
p.T43D |
Missense |
2/28 |
- |
1 |
7-55210017-AC-TG |
c.127_128delinsTG |
p.T43C |
Missense |
2/28 |
- |
1 |
7-55210017-A-G |
c.127A>G |
p.T43A |
Missense |
2/28 |
- |
4 |
7-55210017-A-T |
c.127A>T |
p.T43S |
Missense |
2/28 |
- |
1 |
7-55210018-C-A |
c.128C>A |
p.T43N |
Missense |
2/28 |
- |
1 |
7-55210018-C-G |
c.128C>G |
p.T43S |
Missense |
2/28 |
- |
1 |
7-55210018-C-T |
c.128C>T |
p.T43I |
Missense |
2/28 |
- |
1 |
7-55210019-T-A |
c.129T>A |
p.T43= |
Synonymous |
2/28 |
- |
2 |
7-55210019-T-C |
c.129T>C |
p.T43= |
Synonymous |
2/28 |
- |
2 |
7-55210019-T-G |
c.129T>G |
p.T43= |
Synonymous |
2/28 |
- |
3 |
7-55210020-T-A |
c.130T>A |
p.F44I |
Missense |
2/28 |
- |
1 |
7-55210020-T-C |
c.130T>C |
p.F44L |
Missense |
2/28 |
- |
1 |
7-55210020-T-G |
c.130T>G |
p.F44V |
Missense |
2/28 |
- |
1 |
7-55210020-TT-GA |
c.130_131delinsGA |
p.F44D |
Missense |
2/28 |
- |
1 |
7-55210020-TT-GC |
c.130_131delinsGC |
p.F44A |
Missense |
2/28 |
- |
2 |
7-55210020-TTT-GAG |
c.130_132delinsGAG |
p.F44E |
Missense |
2/28 |
- |
1 |
7-55210021-T-C |
c.131T>C |
p.F44S |
Missense |
2/28 |
- |
1 |
7-55210021-T-G |
c.131T>G |
p.F44C |
Missense |
2/28 |
- |
1 |
7-55210022-T-C |
c.132T>C |
p.F44= |
Synonymous |
2/28 |
- |
1 |
7-55210023-G-A |
c.133G>A |
p.E45K |
Missense |
2/28 |
- |
7 |
7-55210023-G-C |
c.133G>C |
p.E45Q |
Missense |
2/28 |
- |
5 |
7-55210024-A-C |
c.134A>C |
p.E45A |
Missense |
2/28 |
- |
1 |
7-55210026-G-A |
c.136G>A |
p.D46N |
Missense |
2/28 |
- |
12 |
7-55210026-GA-AC |
c.136_137delinsAC |
p.D46T |
Missense |
2/28 |
- |
1 |
7-55210026-GA-TG |
c.136_137delinsTG |
p.D46C |
Missense |
2/28 |
- |
1 |
7-55210026-GAT-TAA |
c.136_138delinsTAA |
p.D46* |
Nonsense |
2/28 |
- |
1 |
7-55210026-G-T |
c.136G>T |
p.D46Y |
Missense |
2/28 |
- |
6 |
7-55210027-A-T |
c.137A>T |
p.D46V |
Missense |
2/28 |
- |
1 |
7-55210028-T-A |
c.138T>A |
p.D46E |
Missense |
2/28 |
- |
4 |
7-55210028-T-C |
c.138T>C |
p.D46= |
Synonymous |
2/28 |
- |
2 |
7-55210028-T-G |
c.138T>G |
p.D46E |
Missense |
2/28 |
- |
4 |
7-55210029-C-A |
c.139C>A |
p.H47N |
Missense |
2/28 |
- |
1 |
7-55210029-CA-GC |
c.139_140delinsGC |
p.H47A |
Missense |
2/28 |
- |
1 |
7-55210029-CA-TG |
c.139_140inv |
p.H47C |
Missense |
2/28 |
- |
1 |
7-55210029-C-G |
c.139C>G |
p.H47D |
Missense |
2/28 |
- |
1 |
7-55210029-C-T |
c.139C>T |
p.H47Y |
Missense |
2/28 |
- |
11 |
7-55210030-A-G |
c.140A>G |
p.H47R |
Missense |
2/28 |
- |
9 |
7-55210030-A-T |
c.140A>T |
p.H47L |
Missense |
2/28 |
- |
1 |
7-55210031-T-A |
c.141T>A |
p.H47Q |
Missense |
2/28 |
- |
2 |
7-55210031-T-G |
c.141T>G |
p.H47Q |
Missense |
2/28 |
- |
1 |
7-55210032-TT-GA |
c.142_143delinsGA |
p.F48D |
Missense |
2/28 |
- |
1 |
7-55210032-TT-GC |
c.142_143delinsGC |
p.F48A |
Missense |
2/28 |
- |
1 |
7-55210032-TTT-CAA |
c.142_144delinsCAA |
p.F48Q |
Missense |
2/28 |
- |
1 |
7-55210033-T-A |
c.143T>A |
p.F48Y |
Missense |
2/28 |
- |
1 |
7-55210033-T-C |
c.143T>C |
p.F48S |
Missense |
2/28 |
- |
2 |
7-55210035-C-A |
c.145C>A |
p.L49I |
Missense |
2/28 |
- |
1 |
7-55210035-C-T |
c.145C>T |
p.L49F |
Missense |
2/28 |
- |
1 |
7-55210035-CT-AG |
c.145_146inv |
p.L49S |
Missense |
2/28 |
- |
1 |
7-55210036-T-A |
c.146T>A |
p.L49H |
Missense |
2/28 |
- |
1 |
7-55210036-T-C |
c.146T>C |
p.L49P |
Missense |
2/28 |
- |
1 |
7-55210037-C-A |
c.147C>A |
p.L49= |
Synonymous |
2/28 |
- |
2 |
7-55210037-C-G |
c.147C>G |
p.L49= |
Synonymous |
2/28 |
- |
1 |
7-55210037-C-T |
c.147C>T |
p.L49= |
Synonymous |
2/28 |
- |
2 |
7-55210038-A-G |
c.148A>G |
p.S50G |
Missense |
2/28 |
- |
1 |
7-55210038-AG-CC |
c.148_149delinsCC |
p.S50P |
Missense |
2/28 |
- |
2 |
7-55210038-AGC-GAG |
c.148_150delinsGAG |
p.S50E |
Missense |
2/28 |
- |
1 |
7-55210038-AG-GC |
c.148_149delinsGC |
p.S50A |
Missense |
2/28 |
- |
3 |
7-55210039-G-A |
c.149G>A |
p.S50N |
Missense |
2/28 |
- |
5 |
7-55210039-GC-AG |
c.149_150delinsAG |
p.S50K |
Missense |
2/28 |
- |
2 |
7-55210038-A-C |
c.148A>C |
p.S50R |
Missense |
2/28 |
- |
1 |
7-55210040-C-A |
c.150C>A |
p.S50R |
Missense |
2/28 |
- |
2 |
7-55210040-C-G |
c.150C>G |
p.S50R |
Missense |
2/28 |
- |
1 |
7-55210040-C-T |
c.150C>T |
p.S50= |
Synonymous |
2/28 |
- |
3 |
7-55210041-C-A |
c.151C>A |
p.L51I |
Missense |
2/28 |
- |
1 |
7-55210041-C-T |
c.151C>T |
p.L51F |
Missense |
2/28 |
- |
2 |
7-55210041-CTC-ATG |
c.151_153delinsATG |
p.L51M |
Missense |
2/28 |
- |
2 |
7-55210042-T-C |
c.152T>C |
p.L51P |
Missense |
2/28 |
- |
4 |
7-55210043-C-A |
c.153C>A |
p.L51= |
Synonymous |
2/28 |
- |
1 |
7-55210043-C-T |
c.153C>T |
p.L51= |
Synonymous |
2/28 |
- |
1 |
7-55210044-C-A |
c.154C>A |
p.Q52K |
Missense |
2/28 |
- |
1 |
7-55210044-C-T |
c.154C>T |
p.Q52* |
Nonsense |
2/28 |
- |
2 |
7-55210045-A-G |
c.155A>G |
p.Q52R |
Missense |
2/28 |
- |
2 |
7-55210046-G-A |
c.156G>A |
p.Q52= |
Synonymous |
2/28 |
- |
1 |
7-55210046-G-GA |
c.157dup |
p.R53Kfs*5 |
Frameshift |
2/28 |
- |
1 |
7-55210047-AG-CA |
c.157_158delinsCA |
p.R53Q |
Missense |
2/28 |
- |
1 |
7-55210047-AG-CT |
c.157_158inv |
p.R53L |
Missense |
2/28 |
- |
1 |
7-55210047-AGG-CAT |
c.157_159delinsCAT |
p.R53H |
Missense |
2/28 |
- |
1 |
7-55210047-AG-TA |
c.157_158delinsTA |
p.R53* |
Nonsense |
2/28 |
- |
3 |
7-55210048-G-A |
c.158G>A |
p.R53K |
Missense |
2/28 |
- |
6 |
7-55210048-G-T |
c.158G>T |
p.R53M |
Missense |
2/28 |
- |
2 |
7-55210049-G-A |
c.159G>A |
p.R53= |
Synonymous |
2/28 |
- |
2 |
7-55210049-G-C |
c.159G>C |
p.R53S |
Missense |
2/28 |
- |
1 |
7-55210049-G-GT |
c.159_160insT |
p.M54Yfs*4 |
Frameshift |
2/28 |
- |
1 |
7-55210049-G-T |
c.159G>T |
p.R53S |
Missense |
2/28 |
- |
2 |
7-55210050-A-G |
c.160A>G |
p.M54V |
Missense |
2/28 |
- |
1 |
7-55210050-AT-GG |
c.160_161delinsGG |
p.M54G |
Missense |
2/28 |
- |
1 |
7-55210050-ATG-TTT |
c.160_162delinsTTT |
p.M54F |
Missense |
2/28 |
- |
1 |
7-55210051-T-C |
c.161T>C |
p.M54T |
Missense |
2/28 |
- |
2 |
7-55210051-TG-GC |
c.161_162delinsGC |
p.M54S |
Missense |
2/28 |
- |
1 |
7-55210052-G-A |
c.162G>A |
p.M54I |
Missense |
2/28 |
- |
2 |
7-55210052-G-C |
c.162G>C |
p.M54I |
Missense |
2/28 |
- |
2 |
7-55210052-G-T |
c.162G>T |
p.M54I |
Missense |
2/28 |
- |
2 |
7-55210053-T-C |
c.163T>C |
p.F55L |
Missense |
2/28 |
- |
2 |
7-55210053-TT-GA |
c.163_164delinsGA |
p.F55D |
Missense |
2/28 |
- |
1 |
7-55210053-TT-GC |
c.163_164delinsGC |
p.F55A |
Missense |
2/28 |
- |
1 |
7-55210055-C-A |
c.165C>A |
p.F55L |
Missense |
2/28 |
- |
3 |
7-55210055-C-G |
c.165C>G |
p.F55L |
Missense |
2/28 |
- |
1 |
7-55210052-GT-G |
c.164del |
p.F55Sfs*25 |
Frameshift |
2/28 |
- |
1 |
7-55210054-T-A |
c.164T>A |
p.F55Y |
Missense |
2/28 |
- |
1 |
7-55210054-T-C |
c.164T>C |
p.F55S |
Missense |
2/28 |
- |
1 |
7-55210054-T-G |
c.164T>G |
p.F55C |
Missense |
2/28 |
- |
2 |
7-55210055-C-T |
c.165C>T |
p.F55= |
Synonymous |
2/28 |
- |
1 |
7-55210056-A-G |
c.166A>G |
p.N56D |
Missense |
2/28 |
- |
1 |
7-55210057-A-G |
c.167A>G |
p.N56S |
Missense |
2/28 |
- |
2 |
7-55210058-T-A |
c.168T>A |
p.N56K |
Missense |
2/28 |
- |
8 |
7-55210058-T-C |
c.168T>C |
p.N56= |
Synonymous |
2/28 |
- |
1 |
7-55210058-T-G |
c.168T>G |
p.N56K |
Missense |
2/28 |
- |
9 |
7-55210057-ATAACTGTGAGGTGGTCCT-A |
c.169_186del |
p.N57_L62del |
InFrameDeletion |
2/28 |
- |
1 |
7-55210059-A-C |
c.169A>C |
p.N57H |
Missense |
2/28 |
- |
1 |
7-55210059-A-G |
c.169A>G |
p.N57D |
Missense |
2/28 |
- |
1 |
7-55210059-A-T |
c.169A>T |
p.N57Y |
Missense |
2/28 |
- |
1 |
7-55210061-C-A |
c.171C>A |
p.N57K |
Missense |
2/28 |
- |
2 |
7-55210061-C-G |
c.171C>G |
p.N57K |
Missense |
2/28 |
- |
1 |
7-55210061-C-T |
c.171C>T |
p.N57= |
Synonymous |
2/28 |
- |
1 |
7-55210062-T-A |
c.172T>A |
p.C58S |
Missense |
2/28 |
- |
2 |
7-55210062-TG-GA |
c.172_173delinsGA |
p.C58D |
Missense |
2/28 |
- |
2 |
7-55210062-TG-GC |
c.172_173delinsGC |
p.C58A |
Missense |
2/28 |
- |
3 |
7-55210062-TGT-GAG |
c.172_174delinsGAG |
p.C58E |
Missense |
2/28 |
- |
1 |
7-55210063-G-C |
c.173G>C |
p.C58S |
Missense |
2/28 |
- |
1 |
7-55210063-G-A |
c.173G>A |
p.C58Y |
Missense |
2/28 |
- |
1 |
7-55210063-G-GT |
c.174dup |
p.E59* |
Nonsense |
2/28 |
- |
1 |
7-55210064-T-C |
c.174T>C |
p.C58= |
Synonymous |
2/28 |
- |
2 |
7-55210064-T-G |
c.174T>G |
p.C58W |
Missense |
2/28 |
- |
1 |
7-55210065-G-A |
c.175G>A |
p.E59K |
Missense |
2/28 |
- |
7 |
7-55210065-GAG-TAT |
c.175_177delinsTAT |
p.E59Y |
Missense |
2/28 |
- |
1 |
7-55210065-GAG-TGT |
c.175_177delinsTGT |
p.E59C |
Missense |
2/28 |
- |
1 |
7-55210065-G-C |
c.175G>C |
p.E59Q |
Missense |
2/28 |
- |
1 |
7-55210065-G-T |
c.175G>T |
p.E59* |
Nonsense |
2/28 |
- |
2 |
7-55210066-A-C |
c.176A>C |
p.E59A |
Missense |
2/28 |
- |
1 |
7-55210066-A-G |
c.176A>G |
p.E59G |
Missense |
2/28 |
- |
2 |
7-55210066-A-T |
c.176A>T |
p.E59V |
Missense |
2/28 |
- |
1 |
7-55210067-G-A |
c.177G>A |
p.E59= |
Synonymous |
2/28 |
- |
1 |
7-55210067-G-C |
c.177G>C |
p.E59D |
Missense |
2/28 |
- |
1 |
7-55210067-G-T |
c.177G>T |
p.E59D |
Missense |
2/28 |
- |
1 |
7-55210068-G-A |
c.178G>A |
p.V60M |
Missense |
2/28 |
- |
5 |
7-55210068-G-C |
c.178G>C |
p.V60L |
Missense |
2/28 |
- |
2 |
7-55210068-G-T |
c.178G>T |
p.V60L |
Missense |
2/28 |
- |
2 |
7-55210069-T-A |
c.179T>A |
p.V60E |
Missense |
2/28 |
- |
1 |
7-55210070-G-A |
c.180G>A |
p.V60= |
Synonymous |
2/28 |
- |
2 |
7-55210070-G-C |
c.180G>C |
p.V60= |
Synonymous |
2/28 |
- |
1 |
7-55210070-G-T |
c.180G>T |
p.V60= |
Synonymous |
2/28 |
- |
1 |
7-55210071-G-A |
c.181G>A |
p.V61I |
Missense |
2/28 |
- |
3 |
7-55210071-G-T |
c.181G>T |
p.V61F |
Missense |
2/28 |
- |
2 |
7-55210072-T-C |
c.182T>C |
p.V61A |
Missense |
2/28 |
- |
1 |
7-55210072-T-TGCAGCA |
c.182_183insGCAGCA |
p.V61_L62insQH |
InFrameInsertion |
2/28 |
- |
1 |
7-55210073-C-A |
c.183C>A |
p.V61= |
Synonymous |
2/28 |
- |
1 |
7-55210073-C-T |
c.183C>T |
p.V61= |
Synonymous |
2/28 |
- |
1 |
7-55210074-C-A |
c.184C>A |
p.L62I |
Missense |
2/28 |
- |
1 |
7-55210074-C-T |
c.184C>T |
p.L62F |
Missense |
2/28 |
- |
2 |
7-55210075-T-C |
c.185T>C |
p.L62P |
Missense |
2/28 |
- |
2 |
7-55210075-T-G |
c.185T>G |
p.L62R |
Missense |
2/28 |
- |
76 |
7-55210076-T-A |
c.186T>A |
p.L62= |
Synonymous |
2/28 |
- |
2 |
7-55210076-T-C |
c.186T>C |
p.L62= |
Synonymous |
2/28 |
- |
1 |
7-55210077-G-A |
c.187G>A |
p.G63R |
Missense |
2/28 |
- |
25 |
7-55210077-G-C |
c.187G>C |
p.G63R |
Missense |
2/28 |
- |
21 |
7-55210077-GG-AA |
c.187_188delinsAA |
p.G63K |
Missense |
2/28 |
- |
5 |
7-55210077-G-T |
c.187G>T |
p.G63W |
Missense |
2/28 |
- |
1 |
7-55210078-G-A |
c.188G>A |
p.G63E |
Missense |
2/28 |
- |
6 |
7-55210078-G-T |
c.188G>T |
p.G63V |
Missense |
2/28 |
- |
1 |
7-55210080-A-G |
c.190A>G |
p.N64D |
Missense |
2/28 |
- |
1 |
7-55210081-A-C |
c.191A>C |
p.N64T |
Missense |
2/28 |
- |
1 |
7-55210082-T-C |
c.192T>C |
p.N64= |
Synonymous |
2/28 |
- |
1 |
7-55210083-T-C |
c.193T>C |
p.L65= |
Synonymous |
2/28 |
- |
2 |
7-55210083-TT-AC |
c.193_194delinsAC |
p.L65T |
Missense |
2/28 |
- |
1 |
7-55210083-TT-CA |
c.193_194delinsCA |
p.L65Q |
Missense |
2/28 |
- |
1 |
7-55210083-TT-CC |
c.193_194delinsCC |
p.L65P |
Missense |
2/28 |
- |
1 |
7-55210083-TT-GC |
c.193_194delinsGC |
p.L65A |
Missense |
2/28 |
- |
2 |
7-55210083-TTG-CAT |
c.193_195delinsCAT |
p.L65H |
Missense |
2/28 |
- |
1 |
7-55210085-G-A |
c.195G>A |
p.L65= |
Synonymous |
2/28 |
- |
1 |
7-55210084-T-C |
c.194T>C |
p.L65S |
Missense |
2/28 |
- |
1 |
7-55210086-G-A |
c.196G>A |
p.E66K |
Missense |
2/28 |
- |
4 |
7-55210086-G-T |
c.196G>T |
p.E66* |
Nonsense |
2/28 |
- |
2 |
7-55210087-A-C |
c.197A>C |
p.E66A |
Missense |
2/28 |
- |
3 |
7-55210087-A-G |
c.197A>G |
p.E66G |
Missense |
2/28 |
- |
1 |
7-55210087-A-T |
c.197A>T |
p.E66V |
Missense |
2/28 |
- |
1 |
7-55210088-A-C |
c.198A>C |
p.E66D |
Missense |
2/28 |
- |
2 |
7-55210088-A-G |
c.198A>G |
p.E66= |
Synonymous |
2/28 |
- |
1 |
7-55210088-A-T |
c.198A>T |
p.E66D |
Missense |
2/28 |
- |
2 |
7-55210086-GA-G |
c.199del |
p.I67Lfs*13 |
Frameshift |
2/28 |
- |
1 |
7-55210089-A-T |
c.199A>T |
p.I67F |
Missense |
2/28 |
- |
1 |
7-55210090-T-A |
c.200T>A |
p.I67N |
Missense |
2/28 |
- |
1 |
7-55210090-T-C |
c.200T>C |
p.I67T |
Missense |
2/28 |
- |
1 |
7-55210090-T-G |
c.200T>G |
p.I67S |
Missense |
2/28 |
- |
1 |
7-55210090-TT-GG |
c.200_201delinsGG |
p.I67R |
Missense |
2/28 |
- |
1 |
7-55210091-T-A |
c.201T>A |
p.I67= |
Synonymous |
2/28 |
- |
5 |
7-55210091-T-C |
c.201T>C |
p.I67= |
Synonymous |
2/28 |
- |
5 |
7-55210092-ACC-GAG |
c.202_204delinsGAG |
p.T68E |
Missense |
2/28 |
- |
1 |
7-55210092-AC-TT |
c.202_203delinsTT |
p.T68F |
Missense |
2/28 |
- |
2 |
7-55210092-A-G |
c.202A>G |
p.T68A |
Missense |
2/28 |
- |
1 |
7-55210092-A-T |
c.202A>T |
p.T68S |
Missense |
2/28 |
- |
1 |
7-55210093-C-A |
c.203C>A |
p.T68N |
Missense |
2/28 |
- |
1 |
7-55210093-CC-TG |
c.203_204delinsTG |
p.T68M |
Missense |
2/28 |
- |
1 |
7-55210093-C-G |
c.203C>G |
p.T68S |
Missense |
2/28 |
- |
2 |
7-55210093-C-T |
c.203C>T |
p.T68I |
Missense |
2/28 |
- |
7 |
7-55210092-AC-A |
c.204del |
p.Y69Mfs*11 |
Frameshift |
2/28 |
- |
3 |
7-55210094-C-A |
c.204C>A |
p.T68= |
Synonymous |
2/28 |
- |
2 |
7-55210094-C-T |
c.204C>T |
p.T68= |
Synonymous |
2/28 |
- |
1 |
7-55210095-T-C |
c.205T>C |
p.Y69H |
Missense |
2/28 |
- |
1 |
7-55210097-T-A |
c.207T>A |
p.Y69* |
Nonsense |
2/28 |
- |
2 |
7-55210097-T-G |
c.207T>G |
p.Y69* |
Nonsense |
2/28 |
- |
2 |
7-55210098-G-A |
c.208G>A |
p.V70M |
Missense |
2/28 |
- |
1 |
7-55210098-G-C |
c.208G>C |
p.V70L |
Missense |
2/28 |
- |
1 |
7-55210098-G-T |
c.208G>T |
p.V70L |
Missense |
2/28 |
- |
1 |
7-55210098-GTG-ATC |
c.208_210delinsATC |
p.V70I |
Missense |
2/28 |
- |
2 |
7-55210098-GTG-TGT |
c.208_210delinsTGT |
p.V70C |
Missense |
2/28 |
- |
1 |
7-55210098-GTG-TTT |
c.208_210delinsTTT |
p.V70F |
Missense |
2/28 |
- |
1 |
7-55210099-T-C |
c.209T>C |
p.V70A |
Missense |
2/28 |
- |
3 |
7-55210100-G-A |
c.210G>A |
p.V70= |
Synonymous |
2/28 |
- |
1 |
7-55210101-C-A |
c.211C>A |
p.Q71K |
Missense |
2/28 |
- |
1 |
7-55210101-C-T |
c.211C>T |
p.Q71* |
Nonsense |
2/28 |
- |
6 |
7-55210102-A-C |
c.212A>C |
p.Q71P |
Missense |
2/28 |
- |
3 |
7-55210102-A-G |
c.212A>G |
p.Q71R |
Missense |
2/28 |
- |
10 |
7-55210102-A-T |
c.212A>T |
p.Q71L |
Missense |
2/28 |
- |
16 |
7-55210103-G-A |
c.213G>A |
p.Q71= |
Synonymous |
2/28 |
- |
2 |
7-55210103-G-C |
c.213G>C |
p.Q71H |
Missense |
2/28 |
- |
1 |
7-55210104-AG-CC |
c.214_215delinsCC |
p.R72P |
Missense |
2/28 |
- |
46 |
7-55210104-AG-GC |
c.214_215delinsGC |
p.R72A |
Missense |
2/28 |
- |
2 |
7-55210104-AGG-CAT |
c.214_216delinsCAT |
p.R72H |
Missense |
2/28 |
- |
1 |
7-55210104-AGG-TGT |
c.214_216delinsTGT |
p.R72C |
Missense |
2/28 |
- |
1 |
7-55210105-G-A |
c.215G>A |
p.R72K |
Missense |
2/28 |
- |
2 |
7-55210105-G-C |
c.215G>C |
p.R72T |
Missense |
2/28 |
- |
3 |
7-55210105-GG-TC |
c.215_216delinsTC |
p.R72I |
Missense |
2/28 |
- |
1 |
7-55210105-G-T |
c.215G>T |
p.R72M |
Missense |
2/28 |
- |
1 |
7-55210104-A-C |
c.214A>C |
p.R72= |
Synonymous |
2/28 |
- |
1 |
7-55210106-G-A |
c.216G>A |
p.R72= |
Synonymous |
2/28 |
- |
1 |
7-55210106-G-GC |
c.216_217insC |
p.N73Qfs*3 |
Frameshift |
2/28 |
- |
1 |
7-55210108-A-C |
c.218A>C |
p.N73T |
Missense |
2/28 |
- |
1 |
7-55210108-A-G |
c.218A>G |
p.N73S |
Missense |
2/28 |
- |
3 |
7-55210109-T-C |
c.219T>C |
p.N73= |
Synonymous |
2/28 |
- |
1 |
7-55210109-T-G |
c.219T>G |
p.N73K |
Missense |
2/28 |
- |
1 |
7-55210110-T-A |
c.220T>A |
p.Y74N |
Missense |
2/28 |
- |
1 |
7-55210110-TA-GC |
c.220_221delinsGC |
p.Y74A |
Missense |
2/28 |
- |
1 |
7-55210110-T-C |
c.220T>C |
p.Y74H |
Missense |
2/28 |
- |
2 |
7-55210110-T-G |
c.220T>G |
p.Y74D |
Missense |
2/28 |
- |
2 |
7-55210111-A-C |
c.221A>C |
p.Y74S |
Missense |
2/28 |
- |
1 |
7-55210111-A-G |
c.221A>G |
p.Y74C |
Missense |
2/28 |
- |
3 |
7-55210111-A-T |
c.221A>T |
p.Y74F |
Missense |
2/28 |
- |
2 |
7-55210112-T-C |
c.222T>C |
p.Y74= |
Synonymous |
2/28 |
- |
3 |
7-55210113-G-A |
c.223G>A |
p.D75N |
Missense |
2/28 |
- |
4 |
7-55210113-GA-TT |
c.223_224delinsTT |
p.D75F |
Missense |
2/28 |
- |
1 |
7-55210113-G-C |
c.223G>C |
p.D75H |
Missense |
2/28 |
- |
2 |
7-55210113-G-T |
c.223G>T |
p.D75Y |
Missense |
2/28 |
- |
2 |
7-55210114-A-C |
c.224A>C |
p.D75A |
Missense |
2/28 |
- |
1 |
7-55210114-A-T |
c.224A>T |
p.D75V |
Missense |
2/28 |
- |
1 |
7-55210115-T-C |
c.225T>C |
p.D75= |
Synonymous |
2/28 |
- |
3 |
7-55210116-C-A |
c.226C>A |
p.L76I |
Missense |
2/28 |
- |
4 |
7-55210116-C-G |
c.226C>G |
p.L76V |
Missense |
2/28 |
- |
3 |
7-55210116-C-T |
c.226C>T |
p.L76F |
Missense |
2/28 |
- |
1 |
7-55210116-CT-GC |
c.226_227delinsGC |
p.L76A |
Missense |
2/28 |
- |
1 |
7-55210117-T-C |
c.227T>C |
p.L76P |
Missense |
2/28 |
- |
3 |
7-55210118-T-A |
c.228T>A |
p.L76= |
Synonymous |
2/28 |
- |
1 |
7-55210118-T-C |
c.228T>C |
p.L76= |
Synonymous |
2/28 |
- |
1 |
7-55210118-T-G |
c.228T>G |
p.L76= |
Synonymous |
2/28 |
- |
1 |
7-55210118-TTTCCTTCTTAAA-T |
c.228_239del |
p.S77_K80del |
SpliceDonorDeletion |
2/28 |
- |
1 |
7-55210119-T-A |
c.229T>A |
p.S77T |
Missense |
2/28 |
- |
1 |
7-55210119-T-G |
c.229T>G |
p.S77A |
Missense |
2/28 |
- |
1 |
7-55210120-CC-AA |
c.230_231delinsAA |
p.S77* |
Nonsense |
2/28 |
- |
1 |
7-55210120-C-G |
c.230C>G |
p.S77C |
Missense |
2/28 |
- |
1 |
7-55210120-C-T |
c.230C>T |
p.S77F |
Missense |
2/28 |
- |
8 |
7-55210121-C-A |
c.231C>A |
p.S77= |
Synonymous |
2/28 |
- |
2 |
7-55210121-C-G |
c.231C>G |
p.S77= |
Synonymous |
2/28 |
- |
2 |
7-55210121-C-T |
c.231C>T |
p.S77= |
Synonymous |
2/28 |
- |
2 |
7-55210122-T-C |
c.232T>C |
p.F78L |
Missense |
2/28 |
- |
4 |
7-55210122-TTC-GAG |
c.232_234delinsGAG |
p.F78E |
Missense |
2/28 |
- |
1 |
7-55210124-C-A |
c.234C>A |
p.F78L |
Missense |
2/28 |
- |
5 |
7-55210124-C-G |
c.234C>G |
p.F78L |
Missense |
2/28 |
- |
5 |
7-55210123-TC-AA |
c.233_234delinsAA |
p.F78* |
Nonsense |
2/28 |
- |
1 |
7-55210124-C-T |
c.234C>T |
p.F78= |
Synonymous |
2/28 |
- |
3 |
7-55210125-T-A |
c.235T>A |
p.L79I |
Missense |
2/28 |
- |
1 |
7-55210125-T-C |
c.235T>C |
p.L79= |
Synonymous |
2/28 |
- |
1 |
7-55210125-T-G |
c.235T>G |
p.L79V |
Missense |
2/28 |
- |
1 |
7-55210125-TTA-ATG |
c.235_237delinsATG |
p.L79M |
Missense |
2/28 |
- |
1 |
7-55210125-TT-AG |
c.235_236delinsAG |
p.L79R |
Missense |
2/28 |
- |
1 |
7-55210126-T-A |
c.236T>A |
p.L79* |
Nonsense |
2/28 |
- |
1 |
7-55210126-T-G |
c.236T>G |
p.L79* |
Nonsense |
2/28 |
- |
1 |
7-55210127-A-T |
c.237A>T |
p.L79F |
Missense |
2/28 |
- |
1 |
7-55210128-AA-GC |
c.238_239delinsGC |
p.K80A |
Missense |
2/28 |
- |
2 |
7-55210128-A-G |
c.238A>G |
p.K80E |
Missense |
2/28 |
- |
1 |
7-55210129-A-C |
c.239A>C |
p.K80T |
Missense |
2/28 |
- |
2 |
7-55210129-A-G |
c.239A>G |
p.K80R |
Missense |
2/28 |
- |
1 |
7-55210129-A-T |
c.239A>T |
p.K80M |
Missense |
2/28 |
- |
1 |
7-55210130-AGGTTGGTGACTTTGATTTTCCTACACAAATAAAATTGGAGAAAATCTAAGTGGAGAAAG-A |
c.240+1_240+59del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
2/28 |
2/27 |
1 |
7-55210130-G-A |
c.240G>A |
p.K80= |
Synonymous |
2/28 |
- |
1 |
7-55210130-G-C |
c.240G>C |
p.K80N |
Missense |
2/28 |
- |
1 |
7-55210130-G-T |
c.240G>T |
p.K80N |
Missense |
2/28 |
- |
1 |
7-55210131-G-A |
c.240+1G>A |
- |
IntronicSNV |
- |
2/27 |
1 |
7-55210134-G-T |
c.240+4G>T |
- |
IntronicSNV |
- |
2/27 |
1 |
7-55210139-C-A |
c.240+9C>A |
- |
IntronicSNV |
- |
2/27 |
1 |
7-55210140-T-A |
c.240+10T>A |
- |
IntronicSNV |
- |
2/27 |
1 |
7-55210140-T-C |
c.240+10T>C |
- |
IntronicSNV |
- |
2/27 |
1 |
7-55210141-T-A |
c.240+11T>A |
- |
IntronicSNV |
- |
2/27 |
1 |
7-55210142-T-A |
c.240+12T>A |
- |
IntronicSNV |
- |
2/27 |
1 |
7-55210182-G-GA |
c.240+53dup |
- |
IntronicInsertion |
- |
2/27 |
1 |
7-55210187-A-G |
c.240+57A>G |
- |
IntronicSNV |
- |
2/27 |
1 |
7-55210188-G-A |
c.240+58G>A |
- |
IntronicSNV |
- |
2/27 |
2 |
7-55210261-G-T |
c.240+131G>T |
- |
IntronicSNV |
- |
2/27 |
1 |
7-55210733-G-A |
c.241-265G>A |
- |
IntronicSNV |
- |
2/27 |
2 |
7-55210733-G-C |
c.241-265G>C |
- |
IntronicSNV |
- |
2/27 |
2 |
7-55210990-C-G |
c.241-8C>G |
- |
IntronicSNV |
- |
2/27 |
1 |
7-55210998-A-C |
c.241A>C |
p.T81P |
Missense |
3/28 |
- |
1 |
7-55210998-AC-GA |
c.241_242delinsGA |
p.T81D |
Missense |
3/28 |
- |
1 |
7-55210998-AC-TG |
c.241_242delinsTG |
p.T81C |
Missense |
3/28 |
- |
4 |
7-55210998-A-G |
c.241A>G |
p.T81A |
Missense |
3/28 |
- |
1 |
7-55210999-C-A |
c.242C>A |
p.T81N |
Missense |
3/28 |
- |
1 |
7-55210999-C-T |
c.242C>T |
p.T81I |
Missense |
3/28 |
- |
1 |
7-55211000-C-A |
c.243C>A |
p.T81= |
Synonymous |
3/28 |
- |
1 |
7-55211001-A-G |
c.244A>G |
p.I82V |
Missense |
3/28 |
- |
3 |
7-55211001-AT-GC |
c.244_245delinsGC |
p.I82A |
Missense |
3/28 |
- |
3 |
7-55211002-T-C |
c.245T>C |
p.I82T |
Missense |
3/28 |
- |
2 |
7-55211003-C-A |
c.246C>A |
p.I82= |
Synonymous |
3/28 |
- |
1 |
7-55211003-C-T |
c.246C>T |
p.I82= |
Synonymous |
3/28 |
- |
1 |
7-55211002-TC-T |
c.247del |
p.Q83Rfs*37 |
Frameshift |
3/28 |
- |
1 |
7-55211004-C-A |
c.247C>A |
p.Q83K |
Missense |
3/28 |
- |
2 |
7-55211004-C-G |
c.247C>G |
p.Q83E |
Missense |
3/28 |
- |
1 |
7-55211004-C-T |
c.247C>T |
p.Q83* |
Nonsense |
3/28 |
- |
6 |
7-55211005-A-G |
c.248A>G |
p.Q83R |
Missense |
3/28 |
- |
1 |
7-55211007-G-A |
c.250G>A |
p.E84K |
Missense |
3/28 |
- |
2 |
7-55211007-G-C |
c.250G>C |
p.E84Q |
Missense |
3/28 |
- |
1 |
7-55211008-A-C |
c.251A>C |
p.E84A |
Missense |
3/28 |
- |
2 |
7-55211008-A-G |
c.251A>G |
p.E84G |
Missense |
3/28 |
- |
2 |
7-55211008-A-T |
c.251A>T |
p.E84V |
Missense |
3/28 |
- |
18 |
7-55211009-G-A |
c.252G>A |
p.E84= |
Synonymous |
3/28 |
- |
1 |
7-55211009-G-C |
c.252G>C |
p.E84D |
Missense |
3/28 |
- |
3 |
7-55211010-G-A |
c.253G>A |
p.V85M |
Missense |
3/28 |
- |
7 |
7-55211011-T-A |
c.254T>A |
p.V85E |
Missense |
3/28 |
- |
1 |
7-55211011-T-G |
c.254T>G |
p.V85G |
Missense |
3/28 |
- |
1 |
7-55211012-G-A |
c.255G>A |
p.V85= |
Synonymous |
3/28 |
- |
1 |
7-55211012-G-T |
c.255G>T |
p.V85= |
Synonymous |
3/28 |
- |
1 |
7-55211013-G-A |
c.256G>A |
p.A86T |
Missense |
3/28 |
- |
5 |
7-55211013-GCT-AAG |
c.256_258delinsAAG |
p.A86K |
Missense |
3/28 |
- |
2 |
7-55211013-GCT-ATG |
c.256_258delinsATG |
p.A86M |
Missense |
3/28 |
- |
2 |
7-55211013-GC-TT |
c.256_257delinsTT |
p.A86F |
Missense |
3/28 |
- |
2 |
7-55211013-GCT-TAA |
c.256_258delinsTAA |
p.A86* |
Nonsense |
3/28 |
- |
3 |
7-55211014-C-A |
c.257C>A |
p.A86D |
Missense |
3/28 |
- |
4 |
7-55211014-C-T |
c.257C>T |
p.A86V |
Missense |
3/28 |
- |
4 |
7-55211014-CT-AG |
c.257_258inv |
p.A86E |
Missense |
3/28 |
- |
5 |
7-55211015-T-A |
c.258T>A |
p.A86= |
Synonymous |
3/28 |
- |
3 |
7-55211015-T-C |
c.258T>C |
p.A86= |
Synonymous |
3/28 |
- |
2 |
7-55211015-T-G |
c.258T>G |
p.A86= |
Synonymous |
3/28 |
- |
2 |
7-55211016-G-A |
c.259G>A |
p.G87S |
Missense |
3/28 |
- |
2 |
7-55211016-GGT-TGA |
c.259_261delinsTGA |
p.G87* |
Nonsense |
3/28 |
- |
1 |
7-55211016-G-T |
c.259G>T |
p.G87C |
Missense |
3/28 |
- |
6 |
7-55211017-G-A |
c.260G>A |
p.G87D |
Missense |
3/28 |
- |
4 |
7-55211017-G-C |
c.260G>C |
p.G87A |
Missense |
3/28 |
- |
1 |
7-55211017-G-T |
c.260G>T |
p.G87V |
Missense |
3/28 |
- |
1 |
7-55211017-GT-AG |
c.260_261delinsAG |
p.G87E |
Missense |
3/28 |
- |
1 |
7-55211018-T-A |
c.261T>A |
p.G87= |
Synonymous |
3/28 |
- |
1 |
7-55211018-T-C |
c.261T>C |
p.G87= |
Synonymous |
3/28 |
- |
1 |
7-55211018-T-G |
c.261T>G |
p.G87= |
Synonymous |
3/28 |
- |
1 |
7-55211019-TA-GC |
c.262_263delinsGC |
p.Y88A |
Missense |
3/28 |
- |
1 |
7-55211019-T-C |
c.262T>C |
p.Y88H |
Missense |
3/28 |
- |
1 |
7-55211020-A-C |
c.263A>C |
p.Y88S |
Missense |
3/28 |
- |
1 |
7-55211020-A-G |
c.263A>G |
p.Y88C |
Missense |
3/28 |
- |
9 |
7-55211020-A-T |
c.263A>T |
p.Y88F |
Missense |
3/28 |
- |
1 |
7-55211021-T-C |
c.264T>C |
p.Y88= |
Synonymous |
3/28 |
- |
1 |
7-55211022-G-A |
c.265G>A |
p.V89I |
Missense |
3/28 |
- |
1 |
7-55211022-G-C |
c.265G>C |
p.V89L |
Missense |
3/28 |
- |
4 |
7-55211022-G-T |
c.265G>T |
p.V89F |
Missense |
3/28 |
- |
1 |
7-55211022-GTC-ATG |
c.265_267delinsATG |
p.V89M |
Missense |
3/28 |
- |
3 |
7-55211022-GTC-TGG |
c.265_267delinsTGG |
p.V89W |
Missense |
3/28 |
- |
1 |
7-55211023-T-C |
c.266T>C |
p.V89A |
Missense |
3/28 |
- |
3 |
7-55211024-C-A |
c.267C>A |
p.V89= |
Synonymous |
3/28 |
- |
3 |
7-55211024-C-G |
c.267C>G |
p.V89= |
Synonymous |
3/28 |
- |
2 |
7-55211024-C-T |
c.267C>T |
p.V89= |
Synonymous |
3/28 |
- |
2 |
7-55211025-C-A |
c.268C>A |
p.L90I |
Missense |
3/28 |
- |
3 |
7-55211025-C-G |
c.268C>G |
p.L90V |
Missense |
3/28 |
- |
1 |
7-55211025-C-T |
c.268C>T |
p.L90F |
Missense |
3/28 |
- |
8 |
7-55211025-CTC-ATG |
c.268_270delinsATG |
p.L90M |
Missense |
3/28 |
- |
1 |
7-55211026-T-A |
c.269T>A |
p.L90H |
Missense |
3/28 |
- |
3 |
7-55211026-T-C |
c.269T>C |
p.L90P |
Missense |
3/28 |
- |
1 |
7-55211027-C-A |
c.270C>A |
p.L90= |
Synonymous |
3/28 |
- |
2 |
7-55211027-C-G |
c.270C>G |
p.L90= |
Synonymous |
3/28 |
- |
1 |
7-55211027-C-T |
c.270C>T |
p.L90= |
Synonymous |
3/28 |
- |
1 |
7-55211028-A-C |
c.271A>C |
p.I91L |
Missense |
3/28 |
- |
1 |
7-55211028-A-G |
c.271A>G |
p.I91V |
Missense |
3/28 |
- |
11 |
7-55211029-T-A |
c.272T>A |
p.I91N |
Missense |
3/28 |
- |
1 |
7-55211029-T-G |
c.272T>G |
p.I91S |
Missense |
3/28 |
- |
1 |
7-55211030-T-A |
c.273T>A |
p.I91= |
Synonymous |
3/28 |
- |
1 |
7-55211030-T-C |
c.273T>C |
p.I91= |
Synonymous |
3/28 |
- |
3 |
7-55211030-T-G |
c.273T>G |
p.I91M |
Missense |
3/28 |
- |
1 |
7-55211031-G-A |
c.274G>A |
p.A92T |
Missense |
3/28 |
- |
4 |
7-55211031-GC-AA |
c.274_275delinsAA |
p.A92N |
Missense |
3/28 |
- |
1 |
7-55211031-GCC-ATG |
c.274_276delinsATG |
p.A92M |
Missense |
3/28 |
- |
1 |
7-55211031-GCC-CAA |
c.274_276delinsCAA |
p.A92Q |
Missense |
3/28 |
- |
1 |
7-55211031-GC-CG |
c.274_275delinsCG |
p.A92R |
Missense |
3/28 |
- |
1 |
7-55211031-GCC-TAA |
c.274_276delinsTAA |
p.A92* |
Nonsense |
3/28 |
- |
1 |
7-55211031-GC-TG |
c.274_275delinsTG |
p.A92C |
Missense |
3/28 |
- |
2 |
7-55211031-GC-TT |
c.274_275delinsTT |
p.A92F |
Missense |
3/28 |
- |
3 |
7-55211031-G-T |
c.274G>T |
p.A92S |
Missense |
3/28 |
- |
1 |
7-55211032-C-A |
c.275C>A |
p.A92D |
Missense |
3/28 |
- |
7 |
7-55211032-CC-AG |
c.275_276delinsAG |
p.A92E |
Missense |
3/28 |
- |
4 |
7-55211032-C-T |
c.275C>T |
p.A92V |
Missense |
3/28 |
- |
6 |
7-55211033-C-A |
c.276C>A |
p.A92= |
Synonymous |
3/28 |
- |
3 |
7-55211033-C-G |
c.276C>G |
p.A92= |
Synonymous |
3/28 |
- |
2 |
7-55211033-C-T |
c.276C>T |
p.A92= |
Synonymous |
3/28 |
- |
3 |
7-55211034-C-A |
c.277C>A |
p.L93I |
Missense |
3/28 |
- |
3 |
7-55211034-CTC-TAA |
c.277_279delinsTAA |
p.L93* |
Nonsense |
3/28 |
- |
1 |
7-55211035-CT-C |
c.278del |
p.L93Pfs*27 |
Frameshift |
3/28 |
- |
1 |
7-55211035-T-A |
c.278T>A |
p.L93H |
Missense |
3/28 |
- |
1 |
7-55211035-T-C |
c.278T>C |
p.L93P |
Missense |
3/28 |
- |
1 |
7-55211035-T-G |
c.278T>G |
p.L93R |
Missense |
3/28 |
- |
1 |
7-55211036-C-A |
c.279C>A |
p.L93= |
Synonymous |
3/28 |
- |
2 |
7-55211036-C-T |
c.279C>T |
p.L93= |
Synonymous |
3/28 |
- |
1 |
7-55211038-A-G |
c.281A>G |
p.N94S |
Missense |
3/28 |
- |
1 |
7-55211038-A-T |
c.281A>T |
p.N94I |
Missense |
3/28 |
- |
1 |
7-55211039-C-A |
c.282C>A |
p.N94K |
Missense |
3/28 |
- |
1 |
7-55211039-C-T |
c.282C>T |
p.N94= |
Synonymous |
3/28 |
- |
2 |
7-55211040-A-C |
c.283A>C |
p.T95P |
Missense |
3/28 |
- |
2 |
7-55211040-A-G |
c.283A>G |
p.T95A |
Missense |
3/28 |
- |
2 |
7-55211041-C-A |
c.284C>A |
p.T95K |
Missense |
3/28 |
- |
1 |
7-55211041-CA-TG |
c.284_285inv |
p.T95M |
Missense |
3/28 |
- |
3 |
7-55211041-C-T |
c.284C>T |
p.T95I |
Missense |
3/28 |
- |
6 |
7-55211042-A-C |
c.285A>C |
p.T95= |
Synonymous |
3/28 |
- |
1 |
7-55211042-A-G |
c.285A>G |
p.T95= |
Synonymous |
3/28 |
- |
1 |
7-55211043-G-A |
c.286G>A |
p.V96M |
Missense |
3/28 |
- |
4 |
7-55211043-G-T |
c.286G>T |
p.V96L |
Missense |
3/28 |
- |
1 |
7-55211043-GT-AC |
c.286_287inv |
p.V96T |
Missense |
3/28 |
- |
1 |
7-55211043-GTG-ATC |
c.286_288delinsATC |
p.V96I |
Missense |
3/28 |
- |
2 |
7-55211044-T-A |
c.287T>A |
p.V96E |
Missense |
3/28 |
- |
1 |
7-55211044-T-C |
c.287T>C |
p.V96A |
Missense |
3/28 |
- |
1 |
7-55211046-G-A |
c.289G>A |
p.E97K |
Missense |
3/28 |
- |
1 |
7-55211046-G-C |
c.289G>C |
p.E97Q |
Missense |
3/28 |
- |
8 |
7-55211047-A-C |
c.290A>C |
p.E97A |
Missense |
3/28 |
- |
1 |
7-55211047-A-G |
c.290A>G |
p.E97G |
Missense |
3/28 |
- |
1 |
7-55211048-G-C |
c.291G>C |
p.E97D |
Missense |
3/28 |
- |
1 |
7-55211048-G-T |
c.291G>T |
p.E97D |
Missense |
3/28 |
- |
1 |
7-55211049-C-A |
c.292C>A |
p.R98= |
Synonymous |
3/28 |
- |
2 |
7-55211049-CGA-TGG |
c.292_294delinsTGG |
p.R98W |
Missense |
3/28 |
- |
2 |
7-55211049-CGA-TGT |
c.292_294delinsTGT |
p.R98C |
Missense |
3/28 |
- |
4 |
7-55211049-C-T |
c.292C>T |
p.R98* |
Nonsense |
3/28 |
- |
9 |
7-55211051-A-C |
c.294A>C |
p.R98= |
Synonymous |
3/28 |
- |
1 |
7-55211051-A-G |
c.294A>G |
p.R98= |
Synonymous |
3/28 |
- |
2 |
7-55211051-A-T |
c.294A>T |
p.R98= |
Synonymous |
3/28 |
- |
2 |
7-55211050-G-A |
c.293G>A |
p.R98Q |
Missense |
3/28 |
- |
22 |
7-55211050-GA-AT |
c.293_294delinsAT |
p.R98H |
Missense |
3/28 |
- |
2 |
7-55211050-G-T |
c.293G>T |
p.R98L |
Missense |
3/28 |
- |
10 |
7-55211052-AATTCCTTT-A |
c.295_302del |
p.I99Gfs*23 |
Frameshift |
3/28 |
- |
1 |
7-55211053-T-C |
c.296T>C |
p.I99T |
Missense |
3/28 |
- |
1 |
7-55211054-T-C |
c.297T>C |
p.I99= |
Synonymous |
3/28 |
- |
1 |
7-55211054-T-G |
c.297T>G |
p.I99M |
Missense |
3/28 |
- |
2 |
7-55211055-C-A |
c.298C>A |
p.P100T |
Missense |
3/28 |
- |
4 |
7-55211055-CCT-AAG |
c.298_300delinsAAG |
p.P100K |
Missense |
3/28 |
- |
1 |
7-55211055-CC-TT |
c.298_299delinsTT |
p.P100F |
Missense |
3/28 |
- |
1 |
7-55211055-C-G |
c.298C>G |
p.P100A |
Missense |
3/28 |
- |
7 |
7-55211055-C-T |
c.298C>T |
p.P100S |
Missense |
3/28 |
- |
14 |
7-55211056-C-A |
c.299C>A |
p.P100H |
Missense |
3/28 |
- |
3 |
7-55211056-C-T |
c.299C>T |
p.P100L |
Missense |
3/28 |
- |
1 |
7-55211057-T-A |
c.300T>A |
p.P100= |
Synonymous |
3/28 |
- |
1 |
7-55211057-T-C |
c.300T>C |
p.P100= |
Synonymous |
3/28 |
- |
2 |
7-55211057-T-G |
c.300T>G |
p.P100= |
Synonymous |
3/28 |
- |
1 |
7-55211058-T-C |
c.301T>C |
p.L101= |
Synonymous |
3/28 |
- |
1 |
7-55211058-TT-AG |
c.301_302delinsAG |
p.L101R |
Missense |
3/28 |
- |
1 |
7-55211058-TT-CC |
c.301_302delinsCC |
p.L101P |
Missense |
3/28 |
- |
1 |
7-55211059-T-A |
c.302T>A |
p.L101* |
Nonsense |
3/28 |
- |
2 |
7-55211059-T-G |
c.302T>G |
p.L101W |
Missense |
3/28 |
- |
1 |
7-55211059-TG-GT |
c.302_303delinsGT |
p.L101C |
Missense |
3/28 |
- |
1 |
7-55211060-G-A |
c.303G>A |
p.L101= |
Synonymous |
3/28 |
- |
3 |
7-55211060-G-C |
c.303G>C |
p.L101F |
Missense |
3/28 |
- |
4 |
7-55211060-G-T |
c.303G>T |
p.L101F |
Missense |
3/28 |
- |
6 |
7-55211061-G-A |
c.304G>A |
p.E102K |
Missense |
3/28 |
- |
1 |
7-55211061-G-C |
c.304G>C |
p.E102Q |
Missense |
3/28 |
- |
1 |
7-55211061-GGAAAACCTGCAGAT-G |
c.304_317del |
p.E102Hfs*18 |
Frameshift |
3/28 |
- |
1 |
7-55211061-G-T |
c.304G>T |
p.E102* |
Nonsense |
3/28 |
- |
3 |
7-55211062-A-C |
c.305A>C |
p.E102A |
Missense |
3/28 |
- |
2 |
7-55211062-A-T |
c.305A>T |
p.E102V |
Missense |
3/28 |
- |
1 |
7-55211063-A-C |
c.306A>C |
p.E102D |
Missense |
3/28 |
- |
1 |
7-55211063-A-T |
c.306A>T |
p.E102D |
Missense |
3/28 |
- |
1 |
7-55211064-AA-GC |
c.307_308delinsGC |
p.N103A |
Missense |
3/28 |
- |
1 |
7-55211063-AAACCTGC-A |
c.308_314del |
p.N103Rfs*15 |
Frameshift |
3/28 |
- |
1 |
7-55211065-A-C |
c.308A>C |
p.N103T |
Missense |
3/28 |
- |
1 |
7-55211065-A-T |
c.308A>T |
p.N103I |
Missense |
3/28 |
- |
1 |
7-55211066-C-A |
c.309C>A |
p.N103K |
Missense |
3/28 |
- |
1 |
7-55211066-C-T |
c.309C>T |
p.N103= |
Synonymous |
3/28 |
- |
1 |
7-55211067-C-A |
c.310C>A |
p.L104M |
Missense |
3/28 |
- |
1 |
7-55211067-C-G |
c.310C>G |
p.L104V |
Missense |
3/28 |
- |
1 |
7-55211067-CT-GA |
c.310_311delinsGA |
p.L104E |
Missense |
3/28 |
- |
1 |
7-55211067-CTG-ATC |
c.310_312delinsATC |
p.L104I |
Missense |
3/28 |
- |
1 |
7-55211068-T-A |
c.311T>A |
p.L104Q |
Missense |
3/28 |
- |
2 |
7-55211068-T-C |
c.311T>C |
p.L104P |
Missense |
3/28 |
- |
1 |
7-55211068-T-G |
c.311T>G |
p.L104R |
Missense |
3/28 |
- |
1 |
7-55211068-TG-AT |
c.311_312delinsAT |
p.L104H |
Missense |
3/28 |
- |
1 |
7-55211069-G-A |
c.312G>A |
p.L104= |
Synonymous |
3/28 |
- |
1 |
7-55211069-G-C |
c.312G>C |
p.L104= |
Synonymous |
3/28 |
- |
1 |
7-55211069-G-T |
c.312G>T |
p.L104= |
Synonymous |
3/28 |
- |
1 |
7-55211070-C-A |
c.313C>A |
p.Q105K |
Missense |
3/28 |
- |
3 |
7-55211070-CAG-GAC |
c.313_315delinsGAC |
p.Q105D |
Missense |
3/28 |
- |
1 |
7-55211070-CAG-TGT |
c.313_315delinsTGT |
p.Q105C |
Missense |
3/28 |
- |
1 |
7-55211070-C-T |
c.313C>T |
p.Q105* |
Nonsense |
3/28 |
- |
4 |
7-55211071-A-C |
c.314A>C |
p.Q105P |
Missense |
3/28 |
- |
1 |
7-55211072-G-A |
c.315G>A |
p.Q105= |
Synonymous |
3/28 |
- |
3 |
7-55211072-G-C |
c.315G>C |
p.Q105H |
Missense |
3/28 |
- |
13 |
7-55211072-G-T |
c.315G>T |
p.Q105H |
Missense |
3/28 |
- |
8 |
7-55211073-A-G |
c.316A>G |
p.I106V |
Missense |
3/28 |
- |
4 |
7-55211074-T-G |
c.317T>G |
p.I106S |
Missense |
3/28 |
- |
1 |
7-55211075-C-A |
c.318C>A |
p.I106= |
Synonymous |
3/28 |
- |
1 |
7-55211075-C-G |
c.318C>G |
p.I106M |
Missense |
3/28 |
- |
2 |
7-55211075-C-T |
c.318C>T |
p.I106= |
Synonymous |
3/28 |
- |
4 |
7-55211075-TC-T |
c.318del |
p.I107Sfs*13 |
Frameshift |
3/28 |
- |
1 |
7-55211076-A-G |
c.319A>G |
p.I107V |
Missense |
3/28 |
- |
2 |
7-55211076-A-T |
c.319A>T |
p.I107F |
Missense |
3/28 |
- |
2 |
7-55211077-T-C |
c.320T>C |
p.I107T |
Missense |
3/28 |
- |
1 |
7-55211077-T-G |
c.320T>G |
p.I107S |
Missense |
3/28 |
- |
1 |
7-55211078-C-A |
c.321C>A |
p.I107= |
Synonymous |
3/28 |
- |
2 |
7-55211078-C-T |
c.321C>T |
p.I107= |
Synonymous |
3/28 |
- |
1 |
7-55211079-A-G |
c.322A>G |
p.R108G |
Missense |
3/28 |
- |
30 |
7-55211079-AGA-CAT |
c.322_324delinsCAT |
p.R108H |
Missense |
3/28 |
- |
6 |
7-55211079-AGA-TGG |
c.322_324delinsTGG |
p.R108W |
Missense |
3/28 |
- |
1 |
7-55211079-AGA-TGT |
c.322_324delinsTGT |
p.R108C |
Missense |
3/28 |
- |
1 |
7-55211079-AG-CA |
c.322_323delinsCA |
p.R108Q |
Missense |
3/28 |
- |
2 |
7-55211079-A-T |
c.322A>T |
p.R108* |
Nonsense |
3/28 |
- |
1 |
7-55211079-CAGA-C |
c.322_324del |
p.R108del |
InFrameDeletion |
3/28 |
- |
2 |
7-55211080-G-A |
c.323G>A |
p.R108K |
Missense |
3/28 |
- |
164 |
7-55211080-G-C |
c.323G>C |
p.R108T |
Missense |
3/28 |
- |
1 |
7-55211080-G-T |
c.323G>T |
p.R108I |
Missense |
3/28 |
- |
1 |
7-55211079-A-C |
c.322A>C |
p.R108= |
Synonymous |
3/28 |
- |
1 |
7-55211081-A-G |
c.324A>G |
p.R108= |
Synonymous |
3/28 |
- |
1 |
7-55211082-G-A |
c.325G>A |
p.G109R |
Missense |
3/28 |
- |
1 |
7-55211083-G-A |
c.326G>A |
p.G109E |
Missense |
3/28 |
- |
4 |
7-55211083-G-C |
c.326G>C |
p.G109A |
Missense |
3/28 |
- |
3 |
7-55211083-G-T |
c.326G>T |
p.G109V |
Missense |
3/28 |
- |
1 |
7-55211087-T-C |
c.330T>C |
p.N110= |
Synonymous |
3/28 |
- |
1 |
7-55211088-A-G |
c.331A>G |
p.M111V |
Missense |
3/28 |
- |
1 |
7-55211089-T-C |
c.332T>C |
p.M111T |
Missense |
3/28 |
- |
5 |
7-55211090-G-A |
c.333G>A |
p.M111I |
Missense |
3/28 |
- |
5 |
7-55211090-G-C |
c.333G>C |
p.M111I |
Missense |
3/28 |
- |
5 |
7-55211090-G-T |
c.333G>T |
p.M111I |
Missense |
3/28 |
- |
7 |
7-55211091-T-A |
c.334T>A |
p.Y112N |
Missense |
3/28 |
- |
3 |
7-55211091-TAC-GAG |
c.334_336delinsGAG |
p.Y112E |
Missense |
3/28 |
- |
1 |
7-55211091-T-C |
c.334T>C |
p.Y112H |
Missense |
3/28 |
- |
1 |
7-55211092-A-C |
c.335A>C |
p.Y112S |
Missense |
3/28 |
- |
3 |
7-55211092-A-G |
c.335A>G |
p.Y112C |
Missense |
3/28 |
- |
3 |
7-55211092-A-T |
c.335A>T |
p.Y112F |
Missense |
3/28 |
- |
4 |
7-55211093-C-A |
c.336C>A |
p.Y112* |
Nonsense |
3/28 |
- |
1 |
7-55211093-C-T |
c.336C>T |
p.Y112= |
Synonymous |
3/28 |
- |
1 |
7-55211094-T-C |
c.337T>C |
p.Y113H |
Missense |
3/28 |
- |
1 |
7-55211095-A-G |
c.338A>G |
p.Y113C |
Missense |
3/28 |
- |
1 |
7-55211095-A-T |
c.338A>T |
p.Y113F |
Missense |
3/28 |
- |
3 |
7-55211095-TACGAAAATTCCTATGCCTTAGCAGTCTTATCTAACTATGATGCAAATAAAACCGGACTG-T |
c.339_397del |
p.Y113* |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
3/28 |
- |
1 |
7-55211096-C-A |
c.339C>A |
p.Y113* |
Nonsense |
3/28 |
- |
1 |
7-55211096-C-T |
c.339C>T |
p.Y113= |
Synonymous |
3/28 |
- |
6 |
7-55211097-G-A |
c.340G>A |
p.E114K |
Missense |
3/28 |
- |
57 |
7-55211097-G-C |
c.340G>C |
p.E114Q |
Missense |
3/28 |
- |
1 |
7-55211097-G-T |
c.340G>T |
p.E114* |
Nonsense |
3/28 |
- |
1 |
7-55211098-A-C |
c.341A>C |
p.E114A |
Missense |
3/28 |
- |
1 |
7-55211098-A-G |
c.341A>G |
p.E114G |
Missense |
3/28 |
- |
1 |
7-55211098-A-T |
c.341A>T |
p.E114V |
Missense |
3/28 |
- |
1 |
7-55211100-A-C |
c.343A>C |
p.N115H |
Missense |
3/28 |
- |
3 |
7-55211097-G-GA |
c.344dup |
p.N115Kfs*10 |
Frameshift |
3/28 |
- |
1 |
7-55211101-A-C |
c.344A>C |
p.N115T |
Missense |
3/28 |
- |
1 |
7-55211101-A-G |
c.344A>G |
p.N115S |
Missense |
3/28 |
- |
1 |
7-55211101-A-T |
c.344A>T |
p.N115I |
Missense |
3/28 |
- |
2 |
7-55211102-T-A |
c.345T>A |
p.N115K |
Missense |
3/28 |
- |
5 |
7-55211102-T-G |
c.345T>G |
p.N115K |
Missense |
3/28 |
- |
4 |
7-55211101-A-AT |
c.346dup |
p.S116Ffs*9 |
Frameshift |
3/28 |
- |
1 |
7-55211103-TC-AA |
c.346_347delinsAA |
p.S116N |
Missense |
3/28 |
- |
1 |
7-55211103-TC-GA |
c.346_347inv |
p.S116D |
Missense |
3/28 |
- |
1 |
7-55211103-T-G |
c.346T>G |
p.S116A |
Missense |
3/28 |
- |
2 |
7-55211104-C-A |
c.347C>A |
p.S116Y |
Missense |
3/28 |
- |
2 |
7-55211104-CC-AA |
c.347_348delinsAA |
p.S116* |
Nonsense |
3/28 |
- |
1 |
7-55211104-C-G |
c.347C>G |
p.S116C |
Missense |
3/28 |
- |
2 |
7-55211104-C-T |
c.347C>T |
p.S116F |
Missense |
3/28 |
- |
14 |
7-55211105-C-A |
c.348C>A |
p.S116= |
Synonymous |
3/28 |
- |
2 |
7-55211105-C-G |
c.348C>G |
p.S116= |
Synonymous |
3/28 |
- |
1 |
7-55211105-C-T |
c.348C>T |
p.S116= |
Synonymous |
3/28 |
- |
6 |
7-55211106-TA-CT |
c.349_350delinsCT |
p.Y117L |
Missense |
3/28 |
- |
1 |
7-55211106-T-C |
c.349T>C |
p.Y117H |
Missense |
3/28 |
- |
2 |
7-55211106-T-G |
c.349T>G |
p.Y117D |
Missense |
3/28 |
- |
2 |
7-55211107-A-G |
c.350A>G |
p.Y117C |
Missense |
3/28 |
- |
3 |
7-55211107-A-T |
c.350A>T |
p.Y117F |
Missense |
3/28 |
- |
2 |
7-55211108-T-C |
c.351T>C |
p.Y117= |
Synonymous |
3/28 |
- |
2 |
7-55211109-G-A |
c.352G>A |
p.A118T |
Missense |
3/28 |
- |
1 |
7-55211109-G-C |
c.352G>C |
p.A118P |
Missense |
3/28 |
- |
2 |
7-55211109-GC-TG |
c.352_353delinsTG |
p.A118C |
Missense |
3/28 |
- |
2 |
7-55211109-G-T |
c.352G>T |
p.A118S |
Missense |
3/28 |
- |
7 |
7-55211110-C-A |
c.353C>A |
p.A118D |
Missense |
3/28 |
- |
3 |
7-55211110-C-G |
c.353C>G |
p.A118G |
Missense |
3/28 |
- |
11 |
7-55211110-C-T |
c.353C>T |
p.A118V |
Missense |
3/28 |
- |
6 |
7-55211109-GC-G |
c.354del |
p.L119* |
Frameshift |
3/28 |
- |
1 |
7-55211111-C-A |
c.354C>A |
p.A118= |
Synonymous |
3/28 |
- |
4 |
7-55211111-C-G |
c.354C>G |
p.A118= |
Synonymous |
3/28 |
- |
3 |
7-55211111-C-T |
c.354C>T |
p.A118= |
Synonymous |
3/28 |
- |
4 |
7-55211112-T-A |
c.355T>A |
p.L119I |
Missense |
3/28 |
- |
2 |
7-55211112-TTA-ATG |
c.355_357delinsATG |
p.L119M |
Missense |
3/28 |
- |
1 |
7-55211113-T-C |
c.356T>C |
p.L119S |
Missense |
3/28 |
- |
3 |
7-55211115-G-A |
c.358G>A |
p.A120T |
Missense |
3/28 |
- |
3 |
7-55211115-G-C |
c.358G>C |
p.A120P |
Missense |
3/28 |
- |
4 |
7-55211116-C-A |
c.359C>A |
p.A120E |
Missense |
3/28 |
- |
4 |
7-55211116-CA-AC |
c.359_360delinsAC |
p.A120D |
Missense |
3/28 |
- |
1 |
7-55211116-C-G |
c.359C>G |
p.A120G |
Missense |
3/28 |
- |
1 |
7-55211116-C-T |
c.359C>T |
p.A120V |
Missense |
3/28 |
- |
5 |
7-55211117-A-C |
c.360A>C |
p.A120= |
Synonymous |
3/28 |
- |
1 |
7-55211117-A-G |
c.360A>G |
p.A120= |
Synonymous |
3/28 |
- |
1 |
7-55211117-A-T |
c.360A>T |
p.A120= |
Synonymous |
3/28 |
- |
2 |
7-55211118-G-A |
c.361G>A |
p.V121I |
Missense |
3/28 |
- |
2 |
7-55211118-G-C |
c.361G>C |
p.V121L |
Missense |
3/28 |
- |
1 |
7-55211118-G-T |
c.361G>T |
p.V121F |
Missense |
3/28 |
- |
7 |
7-55211119-T-C |
c.362T>C |
p.V121A |
Missense |
3/28 |
- |
1 |
7-55211120-C-A |
c.363C>A |
p.V121= |
Synonymous |
3/28 |
- |
2 |
7-55211120-C-G |
c.363C>G |
p.V121= |
Synonymous |
3/28 |
- |
1 |
7-55211120-C-T |
c.363C>T |
p.V121= |
Synonymous |
3/28 |
- |
1 |
7-55211121-T-A |
c.364T>A |
p.L122I |
Missense |
3/28 |
- |
2 |
7-55211121-T-G |
c.364T>G |
p.L122V |
Missense |
3/28 |
- |
2 |
7-55211121-TT-AG |
c.364_365delinsAG |
p.L122R |
Missense |
3/28 |
- |
1 |
7-55211121-TTATC-T |
c.367_370del |
p.S123Tfs*9 |
Frameshift |
3/28 |
- |
1 |
7-55211124-T-C |
c.367T>C |
p.S123P |
Missense |
3/28 |
- |
1 |
7-55211124-TC-CG |
c.367_368delinsCG |
p.S123R |
Missense |
3/28 |
- |
1 |
7-55211124-T-G |
c.367T>G |
p.S123A |
Missense |
3/28 |
- |
4 |
7-55211125-C-A |
c.368C>A |
p.S123Y |
Missense |
3/28 |
- |
2 |
7-55211125-C-T |
c.368C>T |
p.S123F |
Missense |
3/28 |
- |
9 |
7-55211125-C-CTGA |
c.369_370insGAT |
p.S123_N124insD |
InFrameInsertion |
3/28 |
- |
1 |
7-55211126-T-A |
c.369T>A |
p.S123= |
Synonymous |
3/28 |
- |
1 |
7-55211126-T-C |
c.369T>C |
p.S123= |
Synonymous |
3/28 |
- |
1 |
7-55211126-T-G |
c.369T>G |
p.S123= |
Synonymous |
3/28 |
- |
1 |
7-55211127-A-C |
c.370A>C |
p.N124H |
Missense |
3/28 |
- |
1 |
7-55211127-A-G |
c.370A>G |
p.N124D |
Missense |
3/28 |
- |
1 |
7-55211127-A-T |
c.370A>T |
p.N124Y |
Missense |
3/28 |
- |
2 |
7-55211128-A-T |
c.371A>T |
p.N124I |
Missense |
3/28 |
- |
1 |
7-55211129-C-A |
c.372C>A |
p.N124K |
Missense |
3/28 |
- |
3 |
7-55211129-C-G |
c.372C>G |
p.N124K |
Missense |
3/28 |
- |
2 |
7-55211129-C-T |
c.372C>T |
p.N124= |
Synonymous |
3/28 |
- |
2 |
7-55211130-T-C |
c.373T>C |
p.Y125H |
Missense |
3/28 |
- |
1 |
7-55211131-A-G |
c.374A>G |
p.Y125C |
Missense |
3/28 |
- |
2 |
7-55211131-A-T |
c.374A>T |
p.Y125F |
Missense |
3/28 |
- |
1 |
7-55211133-G-A |
c.376G>A |
p.D126N |
Missense |
3/28 |
- |
3 |
7-55211133-G-C |
c.376G>C |
p.D126H |
Missense |
3/28 |
- |
1 |
7-55211133-G-T |
c.376G>T |
p.D126Y |
Missense |
3/28 |
- |
1 |
7-55211135-T-C |
c.378T>C |
p.D126= |
Synonymous |
3/28 |
- |
1 |
7-55211136-G-A |
c.379G>A |
p.A127T |
Missense |
3/28 |
- |
9 |
7-55211136-G-C |
c.379G>C |
p.A127P |
Missense |
3/28 |
- |
1 |
7-55211136-G-T |
c.379G>T |
p.A127S |
Missense |
3/28 |
- |
1 |
7-55211136-TG-T |
c.379del |
p.A127Qfs*6 |
Frameshift |
3/28 |
- |
1 |
7-55211137-C-A |
c.380C>A |
p.A127E |
Missense |
3/28 |
- |
4 |
7-55211137-C-T |
c.380C>T |
p.A127V |
Missense |
3/28 |
- |
6 |
7-55211138-A-C |
c.381A>C |
p.A127= |
Synonymous |
3/28 |
- |
2 |
7-55211138-A-G |
c.381A>G |
p.A127= |
Synonymous |
3/28 |
- |
2 |
7-55211138-A-T |
c.381A>T |
p.A127= |
Synonymous |
3/28 |
- |
4 |
7-55211138-CAAATAAAACCGGACTGAAGGAGCTGCCCATGAGAAATTTACAGGGTGAGAGGCTGGGAT-C |
c.381_424+15del |
- |
SpliceDonorDeletion |
3/28 |
3/27 |
1 |
7-55211139-A-C |
c.382A>C |
p.N128H |
Missense |
3/28 |
- |
1 |
7-55211139-A-G |
c.382A>G |
p.N128D |
Missense |
3/28 |
- |
2 |
7-55211137-CA-C |
c.383del |
p.N128Ifs*5 |
Frameshift |
3/28 |
- |
1 |
7-55211140-A-G |
c.383A>G |
p.N128S |
Missense |
3/28 |
- |
2 |
7-55211141-T-A |
c.384T>A |
p.N128K |
Missense |
3/28 |
- |
1 |
7-55211141-T-TAG |
c.385_386insGA |
p.K129Rfs*5 |
Frameshift |
3/28 |
- |
1 |
7-55211142-AA-GC |
c.385_386delinsGC |
p.K129A |
Missense |
3/28 |
- |
2 |
7-55211142-A-C |
c.385A>C |
p.K129Q |
Missense |
3/28 |
- |
1 |
7-55211142-A-G |
c.385A>G |
p.K129E |
Missense |
3/28 |
- |
2 |
7-55211143-AA-TG |
c.386_387delinsTG |
p.K129M |
Missense |
3/28 |
- |
1 |
7-55211143-A-C |
c.386A>C |
p.K129T |
Missense |
3/28 |
- |
1 |
7-55211143-A-G |
c.386A>G |
p.K129R |
Missense |
3/28 |
- |
1 |
7-55211144-A-C |
c.387A>C |
p.K129N |
Missense |
3/28 |
- |
1 |
7-55211144-A-G |
c.387A>G |
p.K129= |
Synonymous |
3/28 |
- |
1 |
7-55211144-A-T |
c.387A>T |
p.K129N |
Missense |
3/28 |
- |
1 |
7-55211145-A-G |
c.388A>G |
p.T130A |
Missense |
3/28 |
- |
2 |
7-55211146-C-A |
c.389C>A |
p.T130N |
Missense |
3/28 |
- |
1 |
7-55211146-CC-TG |
c.389_390delinsTG |
p.T130M |
Missense |
3/28 |
- |
1 |
7-55211146-C-T |
c.389C>T |
p.T130I |
Missense |
3/28 |
- |
2 |
7-55211147-C-A |
c.390C>A |
p.T130= |
Synonymous |
3/28 |
- |
3 |
7-55211147-C-G |
c.390C>G |
p.T130= |
Synonymous |
3/28 |
- |
3 |
7-55211147-C-T |
c.390C>T |
p.T130= |
Synonymous |
3/28 |
- |
3 |
7-55211148-G-A |
c.391G>A |
p.G131R |
Missense |
3/28 |
- |
12 |
7-55211148-G-C |
c.391G>C |
p.G131R |
Missense |
3/28 |
- |
3 |
7-55211148-GGA-TGT |
c.391_393delinsTGT |
p.G131C |
Missense |
3/28 |
- |
1 |
7-55211149-GA-AC |
c.392_393delinsAC |
p.G131D |
Missense |
3/28 |
- |
1 |
7-55211150-A-G |
c.393A>G |
p.G131= |
Synonymous |
3/28 |
- |
1 |
7-55211151-C-A |
c.394C>A |
p.L132M |
Missense |
3/28 |
- |
2 |
7-55211151-C-T |
c.394C>T |
p.L132= |
Synonymous |
3/28 |
- |
4 |
7-55211151-CTG-ATC |
c.394_396delinsATC |
p.L132I |
Missense |
3/28 |
- |
1 |
7-55211151-CT-GC |
c.394_395delinsGC |
p.L132A |
Missense |
3/28 |
- |
1 |
7-55211151-CTG-TGT |
c.394_396delinsTGT |
p.L132C |
Missense |
3/28 |
- |
1 |
7-55211151-CTG-TTT |
c.394_396delinsTTT |
p.L132F |
Missense |
3/28 |
- |
1 |
7-55211152-T-C |
c.395T>C |
p.L132P |
Missense |
3/28 |
- |
1 |
7-55211153-G-A |
c.396G>A |
p.L132= |
Synonymous |
3/28 |
- |
3 |
7-55211153-G-C |
c.396G>C |
p.L132= |
Synonymous |
3/28 |
- |
3 |
7-55211153-G-T |
c.396G>T |
p.L132= |
Synonymous |
3/28 |
- |
3 |
7-55211154-AA-GC |
c.397_398delinsGC |
p.K133A |
Missense |
3/28 |
- |
5 |
7-55211156-G-C |
c.399G>C |
p.K133N |
Missense |
3/28 |
- |
1 |
7-55211156-G-T |
c.399G>T |
p.K133N |
Missense |
3/28 |
- |
1 |
7-55211155-AG-A |
c.400del |
p.E134Sfs*4 |
Frameshift |
3/28 |
- |
1 |
7-55211157-G-A |
c.400G>A |
p.E134K |
Missense |
3/28 |
- |
3 |
7-55211158-A-C |
c.401A>C |
p.E134A |
Missense |
3/28 |
- |
1 |
7-55211158-A-G |
c.401A>G |
p.E134G |
Missense |
3/28 |
- |
3 |
7-55211159-G-A |
c.402G>A |
p.E134= |
Synonymous |
3/28 |
- |
1 |
7-55211159-G-C |
c.402G>C |
p.E134D |
Missense |
3/28 |
- |
1 |
7-55211159-G-T |
c.402G>T |
p.E134D |
Missense |
3/28 |
- |
1 |
7-55211160-C-A |
c.403C>A |
p.L135M |
Missense |
3/28 |
- |
1 |
7-55211160-C-G |
c.403C>G |
p.L135V |
Missense |
3/28 |
- |
1 |
7-55211160-CTG-TAT |
c.403_405delinsTAT |
p.L135Y |
Missense |
3/28 |
- |
3 |
7-55211160-CT-TA |
c.403_404delinsTA |
p.L135* |
Nonsense |
3/28 |
- |
1 |
7-55211161-T-A |
c.404T>A |
p.L135Q |
Missense |
3/28 |
- |
1 |
7-55211160-C-T |
c.403C>T |
p.L135= |
Synonymous |
3/28 |
- |
2 |
7-55211162-G-A |
c.405G>A |
p.L135= |
Synonymous |
3/28 |
- |
3 |
7-55211162-G-C |
c.405G>C |
p.L135= |
Synonymous |
3/28 |
- |
2 |
7-55211162-G-T |
c.405G>T |
p.L135= |
Synonymous |
3/28 |
- |
2 |
7-55211162-TG-T |
c.405del |
p.M137* |
Frameshift |
3/28 |
- |
1 |
7-55211163-C-A |
c.406C>A |
p.P136T |
Missense |
3/28 |
- |
4 |
7-55211163-C-T |
c.406C>T |
p.P136S |
Missense |
3/28 |
- |
3 |
7-55211164-C-A |
c.407C>A |
p.P136H |
Missense |
3/28 |
- |
1 |
7-55211164-CC-AA |
c.407_408delinsAA |
p.P136Q |
Missense |
3/28 |
- |
1 |
7-55211164-C-T |
c.407C>T |
p.P136L |
Missense |
3/28 |
- |
4 |
7-55211165-C-A |
c.408C>A |
p.P136= |
Synonymous |
3/28 |
- |
1 |
7-55211165-C-T |
c.408C>T |
p.P136= |
Synonymous |
3/28 |
- |
2 |
7-55211166-A-G |
c.409A>G |
p.M137V |
Missense |
3/28 |
- |
5 |
7-55211166-A-T |
c.409A>T |
p.M137L |
Missense |
3/28 |
- |
3 |
7-55211167-T-A |
c.410T>A |
p.M137K |
Missense |
3/28 |
- |
1 |
7-55211167-T-C |
c.410T>C |
p.M137T |
Missense |
3/28 |
- |
1 |
7-55211167-T-G |
c.410T>G |
p.M137R |
Missense |
3/28 |
- |
2 |
7-55211168-G-A |
c.411G>A |
p.M137I |
Missense |
3/28 |
- |
4 |
7-55211168-G-C |
c.411G>C |
p.M137I |
Missense |
3/28 |
- |
3 |
7-55211168-G-GT |
c.411_412insT |
p.R138* |
Nonsense |
3/28 |
- |
1 |
7-55211168-G-T |
c.411G>T |
p.M137I |
Missense |
3/28 |
- |
4 |
7-55211169-AGA-TGG |
c.412_414delinsTGG |
p.R138W |
Missense |
3/28 |
- |
2 |
7-55211169-AG-CA |
c.412_413delinsCA |
p.R138Q |
Missense |
3/28 |
- |
1 |
7-55211169-AG-CC |
c.412_413delinsCC |
p.R138P |
Missense |
3/28 |
- |
1 |
7-55211169-AG-CT |
c.412_413inv |
p.R138L |
Missense |
3/28 |
- |
1 |
7-55211169-AG-GA |
c.412_413delinsGA |
p.R138E |
Missense |
3/28 |
- |
1 |
7-55211169-AG-GT |
c.412_413delinsGT |
p.R138V |
Missense |
3/28 |
- |
1 |
7-55211169-A-T |
c.412A>T |
p.R138* |
Nonsense |
3/28 |
- |
2 |
7-55211170-G-A |
c.413G>A |
p.R138K |
Missense |
3/28 |
- |
4 |
7-55211170-G-T |
c.413G>T |
p.R138I |
Missense |
3/28 |
- |
4 |
7-55211171-A-G |
c.414A>G |
p.R138= |
Synonymous |
3/28 |
- |
1 |
7-55211172-A-G |
c.415A>G |
p.N139D |
Missense |
3/28 |
- |
3 |
7-55211175-T-C |
c.418T>C |
p.L140= |
Synonymous |
3/28 |
- |
1 |
7-55211175-T-G |
c.418T>G |
p.L140V |
Missense |
3/28 |
- |
6 |
7-55211175-TTA-ATG |
c.418_420delinsATG |
p.L140M |
Missense |
3/28 |
- |
2 |
7-55211175-TT-AG |
c.418_419delinsAG |
p.L140R |
Missense |
3/28 |
- |
1 |
7-55211177-A-G |
c.420A>G |
p.L140= |
Synonymous |
3/28 |
- |
2 |
7-55211176-T-C |
c.419T>C |
p.L140S |
Missense |
3/28 |
- |
1 |
7-55211178-C-A |
c.421C>A |
p.Q141K |
Missense |
3/28 |
- |
3 |
7-55211178-CA-AC |
c.421_422delinsAC |
p.Q141T |
Missense |
3/28 |
- |
1 |
7-55211178-C-T |
c.421C>T |
p.Q141* |
Nonsense |
3/28 |
- |
8 |
7-55211179-A-G |
c.422A>G |
p.Q141R |
Missense |
3/28 |
- |
2 |
7-55211180-G-A |
c.423G>A |
p.Q141= |
Synonymous |
3/28 |
- |
2 |
7-55211180-G-T |
c.423G>T |
p.Q141H |
Missense |
3/28 |
- |
4 |
7-55211181-G-A |
c.424G>A |
p.E142K |
Missense |
3/28 |
- |
4 |
7-55211181-G-T |
c.424G>T |
p.E142* |
Nonsense |
3/28 |
- |
2 |
7-55211179-AG-A |
c.424+1del |
- |
Frameshift |
- |
3/27 |
1 |
7-55211182-G-A |
c.424+1G>A |
- |
IntronicSNV |
- |
3/27 |
2 |
7-55211182-G-T |
c.424+1G>T |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55211184-G-A |
c.424+3G>A |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55211184-G-T |
c.424+3G>T |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55211185-A-G |
c.424+4A>G |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55211185-A-T |
c.424+4A>T |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55211187-A-G |
c.424+6A>G |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55211189-G-A |
c.424+8G>A |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55211190-C-A |
c.424+9C>A |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55211192-G-A |
c.424+11G>A |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55211227-G-A |
c.424+46G>A |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55211245-CA-C |
c.424+64del |
- |
IntronicDeletion |
- |
3/27 |
1 |
7-55211316-G-A |
c.424+135G>A |
- |
IntronicSNV |
- |
3/27 |
4 |
7-55211827-G-A |
c.424+646G>A |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55211827-G-T |
c.424+646G>T |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55211879-A-G |
c.424+698A>G |
- |
IntronicSNV |
- |
3/27 |
4 |
7-55211885-T-C |
c.424+704T>C |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55213001-C-T |
c.425-1298C>T |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55213017-G-A |
c.425-1282G>A |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55213019-T-G |
c.425-1280T>G |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55213342-C-A |
c.425-957C>A |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55213918-A-C |
c.425-381A>C |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55214173-T-C |
c.425-126T>C |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55214186-G-T |
c.425-113G>T |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55214188-T-C |
c.425-111T>C |
- |
IntronicSNV |
- |
3/27 |
2 |
7-55214247-G-A |
c.425-52G>A |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55214287-A-T |
c.425-12A>T |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55214288-T-C |
c.425-11T>C |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55214290-C-A |
c.425-9C>A |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55214292-C-A |
c.425-7C>A |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55214293-C-A |
c.425-6C>A |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55214293-C-G |
c.425-6C>G |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55214294-C-A |
c.425-5C>A |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55214294-C-G |
c.425-5C>G |
- |
IntronicSNV |
- |
3/27 |
2 |
7-55214294-C-T |
c.425-5C>T |
- |
IntronicSNV |
- |
3/27 |
2 |
7-55214295-G-A |
c.425-4G>A |
- |
IntronicSNV |
- |
3/27 |
2 |
7-55214295-G-T |
c.425-4G>T |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55214296-C-A |
c.425-3C>A |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55214296-C-T |
c.425-3C>T |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55214299-A-G |
c.425A>G |
p.E142G |
Missense |
4/28 |
- |
1 |
7-55214300-A-C |
c.426A>C |
p.E142D |
Missense |
4/28 |
- |
3 |
7-55214300-A-G |
c.426A>G |
p.E142E |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214300-A-T |
c.426A>T |
p.E142D |
Missense |
4/28 |
- |
2 |
7-55214301-A-G |
c.427A>G |
p.I143V |
Missense |
4/28 |
- |
1 |
7-55214302-T-C |
c.428T>C |
p.I143T |
Missense |
4/28 |
- |
1 |
7-55214303-C-A |
c.429C>A |
p.I143I |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214303-C-T |
c.429C>T |
p.I143= |
Synonymous |
4/28 |
- |
4 |
7-55214304-C-A |
c.430C>A |
p.L144M |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214304-C-G |
c.430C>G |
p.L144V |
Missense |
4/28 |
- |
2 |
7-55214304-C-T |
c.430C>T |
p.L144= |
Synonymous |
4/28 |
- |
5 |
7-55214304-CTG-ATC |
c.430_432delinsATC |
p.L144I |
Missense |
4/28 |
- |
1 |
7-55214305-T-A |
c.431T>A |
p.L144Q |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214306-G-A |
c.432G>A |
p.L144L |
UnclassifiedSNV |
4/28 |
- |
2 |
7-55214307-C-A |
c.433C>A |
p.H145N |
Missense |
4/28 |
- |
2 |
7-55214307-C-T |
c.433C>T |
p.H145Y |
Missense |
4/28 |
- |
2 |
7-55214308-A-C |
c.434A>C |
p.H145P |
Missense |
4/28 |
- |
2 |
7-55214308-A-G |
c.434A>G |
p.H145R |
Missense |
4/28 |
- |
9 |
7-55214310-G-A |
c.436G>A |
p.G146S |
Missense |
4/28 |
- |
4 |
7-55214310-GG-AC |
c.436_437delinsAC |
p.G146T |
Missense |
4/28 |
- |
1 |
7-55214310-GG-CC |
c.436_437inv |
p.G146P |
Missense |
4/28 |
- |
1 |
7-55214310-G-T |
c.436G>T |
p.G146C |
Missense |
4/28 |
- |
1 |
7-55214309-TGGC-T |
c.437_439del |
p.G146del |
InFrameDeletion |
4/28 |
- |
1 |
7-55214311-G-A |
c.437G>A |
p.G146D |
Missense |
4/28 |
- |
4 |
7-55214311-G-C |
c.437G>C |
p.G146A |
Missense |
4/28 |
- |
2 |
7-55214311-GC-AG |
c.437_438delinsAG |
p.G146E |
Missense |
4/28 |
- |
1 |
7-55214311-G-T |
c.437G>T |
p.G146V |
Missense |
4/28 |
- |
3 |
7-55214312-C-A |
c.438C>A |
p.G146= |
Synonymous |
4/28 |
- |
2 |
7-55214312-C-G |
c.438C>G |
p.G146= |
Synonymous |
4/28 |
- |
2 |
7-55214312-C-T |
c.438C>T |
p.G146= |
Synonymous |
4/28 |
- |
4 |
7-55214313-G-A |
c.439G>A |
p.A147T |
Missense |
4/28 |
- |
18 |
7-55214313-G-C |
c.439G>C |
p.A147P |
Missense |
4/28 |
- |
3 |
7-55214313-G-T |
c.439G>T |
p.A147S |
Missense |
4/28 |
- |
2 |
7-55214314-C-A |
c.440C>A |
p.A147D |
Missense |
4/28 |
- |
2 |
7-55214314-C-T |
c.440C>T |
p.A147V |
Missense |
4/28 |
- |
3 |
7-55214315-C-A |
c.441C>A |
p.A147= |
Synonymous |
4/28 |
- |
3 |
7-55214315-C-G |
c.441C>G |
p.A147= |
Synonymous |
4/28 |
- |
3 |
7-55214315-C-T |
c.441C>T |
p.A147= |
Synonymous |
4/28 |
- |
4 |
7-55214316-G-A |
c.442G>A |
p.V148M |
Missense |
4/28 |
- |
15 |
7-55214317-T-G |
c.443T>G |
p.V148G |
Missense |
4/28 |
- |
1 |
7-55214318-G-A |
c.444G>A |
p.V148= |
Synonymous |
4/28 |
- |
4 |
7-55214318-G-C |
c.444G>C |
p.V148= |
Synonymous |
4/28 |
- |
2 |
7-55214318-G-T |
c.444G>T |
p.V148= |
Synonymous |
4/28 |
- |
2 |
7-55214319-C-A |
c.445C>A |
p.R149= |
Synonymous |
4/28 |
- |
3 |
7-55214319-C-G |
c.445C>G |
p.R149G |
Missense |
4/28 |
- |
3 |
7-55214319-CG-AA |
c.445_446delinsAA |
p.R149K |
Missense |
4/28 |
- |
1 |
7-55214319-CG-AC |
c.445_446delinsAC |
p.R149T |
Missense |
4/28 |
- |
3 |
7-55214319-CGG-TGT |
c.445_447delinsTGT |
p.R149C |
Missense |
4/28 |
- |
2 |
7-55214319-CG-TA |
c.445_446delinsTA |
p.R149* |
Nonsense |
4/28 |
- |
1 |
7-55214319-C-T |
c.445C>T |
p.R149W |
Missense |
4/28 |
- |
27 |
7-55214320-G-A |
c.446G>A |
p.R149Q |
Missense |
4/28 |
- |
10 |
7-55214320-G-C |
c.446G>C |
p.R149P |
Missense |
4/28 |
- |
2 |
7-55214320-GG-AT |
c.446_447delinsAT |
p.R149H |
Missense |
4/28 |
- |
1 |
7-55214321-G-A |
c.447G>A |
p.R149R |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214322-T-C |
c.448T>C |
p.F150L |
Missense |
4/28 |
- |
3 |
7-55214322-T-G |
c.448T>G |
p.F150V |
Missense |
4/28 |
- |
1 |
7-55214321-GT-G |
c.449del |
p.F150Sfs*18 |
Frameshift |
4/28 |
- |
1 |
7-55214324-C-A |
c.450C>A |
p.F150L |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214324-C-T |
c.450C>T |
p.F150= |
Synonymous |
4/28 |
- |
2 |
7-55214325-A-G |
c.451A>G |
p.S151G |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214325-AG-GA |
c.451_452delinsGA |
p.S151D |
Missense |
4/28 |
- |
3 |
7-55214325-AG-GC |
c.451_452delinsGC |
p.S151A |
Missense |
4/28 |
- |
3 |
7-55214325-AG-TT |
c.451_452delinsTT |
p.S151F |
Missense |
4/28 |
- |
1 |
7-55214325-A-T |
c.451A>T |
p.S151C |
Missense |
4/28 |
- |
2 |
7-55214326-G-A |
c.452G>A |
p.S151N |
Missense |
4/28 |
- |
4 |
7-55214326-G-T |
c.452G>T |
p.S151I |
Missense |
4/28 |
- |
1 |
7-55214327-C-A |
c.453C>A |
p.S151R |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214327-C-T |
c.453C>T |
p.S151S |
UnclassifiedSNV |
4/28 |
- |
2 |
7-55214328-AAC-CAA |
c.454_456delinsCAA |
p.N152Q |
Missense |
4/28 |
- |
1 |
7-55214327-C-CA |
c.455dup |
p.N152Kfs*20 |
Frameshift |
4/28 |
- |
1 |
7-55214329-A-G |
c.455A>G |
p.N152S |
Missense |
4/28 |
- |
1 |
7-55214330-C-A |
c.456C>A |
p.N152K |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214330-C-G |
c.456C>G |
p.N152K |
Missense |
4/28 |
- |
1 |
7-55214331-A-C |
c.457A>C |
p.N153H |
Missense |
4/28 |
- |
1 |
7-55214331-A-G |
c.457A>G |
p.N153D |
Missense |
4/28 |
- |
1 |
7-55214332-A-G |
c.458A>G |
p.N153S |
Missense |
4/28 |
- |
2 |
7-55214333-C-A |
c.459C>A |
p.N153K |
Missense |
4/28 |
- |
1 |
7-55214334-C-A |
c.460C>A |
p.P154T |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214334-C-T |
c.460C>T |
p.P154S |
Missense |
4/28 |
- |
2 |
7-55214335-C-A |
c.461C>A |
p.P154H |
Missense |
4/28 |
- |
5 |
7-55214335-C-T |
c.461C>T |
p.P154L |
Missense |
4/28 |
- |
2 |
7-55214337-G-A |
c.463G>A |
p.A155T |
Missense |
4/28 |
- |
2 |
7-55214337-GCC-TAA |
c.463_465delinsTAA |
p.A155* |
Nonsense |
4/28 |
- |
1 |
7-55214337-G-T |
c.463G>T |
p.A155S |
Missense |
4/28 |
- |
1 |
7-55214338-C-A |
c.464C>A |
p.A155D |
Missense |
4/28 |
- |
2 |
7-55214338-C-T |
c.464C>T |
p.A155V |
Missense |
4/28 |
- |
3 |
7-55214339-C-A |
c.465C>A |
p.A155A |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214339-C-T |
c.465C>T |
p.A155A |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214340-C-A |
c.466C>A |
p.L156M |
Missense |
4/28 |
- |
2 |
7-55214340-C-G |
c.466C>G |
p.L156V |
Missense |
4/28 |
- |
1 |
7-55214340-C-T |
c.466C>T |
p.L156= |
Synonymous |
4/28 |
- |
1 |
7-55214340-CTG-ATC |
c.466_468delinsATC |
p.L156I |
Missense |
4/28 |
- |
1 |
7-55214340-CT-GC |
c.466_467delinsGC |
p.L156A |
Missense |
4/28 |
- |
1 |
7-55214340-CT-TC |
c.466_467delinsTC |
p.L156S |
Missense |
4/28 |
- |
1 |
7-55214341-T-A |
c.467T>A |
p.L156Q |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214341-T-C |
c.467T>C |
p.L156P |
Missense |
4/28 |
- |
2 |
7-55214343-T-A |
c.469T>A |
p.C157S |
Missense |
4/28 |
- |
1 |
7-55214343-T-C |
c.469T>C |
p.C157R |
Missense |
4/28 |
- |
1 |
7-55214343-TG-AC |
c.469_470delinsAC |
p.C157T |
Missense |
4/28 |
- |
1 |
7-55214344-G-C |
c.470G>C |
p.C157S |
Missense |
4/28 |
- |
1 |
7-55214344-G-A |
c.470G>A |
p.C157Y |
Missense |
4/28 |
- |
3 |
7-55214344-G-T |
c.470G>T |
p.C157F |
Missense |
4/28 |
- |
1 |
7-55214345-C-A |
c.471C>A |
p.C157* |
UnclassifiedSNV |
4/28 |
- |
2 |
7-55214345-C-T |
c.471C>T |
p.C157= |
Synonymous |
4/28 |
- |
3 |
7-55214346-AA-GG |
c.472_473delinsGG |
p.N158G |
Missense |
4/28 |
- |
1 |
7-55214346-A-G |
c.472A>G |
p.N158D |
Missense |
4/28 |
- |
2 |
7-55214345-CA-C |
c.473del |
p.N158Tfs*10 |
Frameshift |
4/28 |
- |
1 |
7-55214347-A-G |
c.473A>G |
p.N158S |
Missense |
4/28 |
- |
1 |
7-55214348-C-A |
c.474C>A |
p.N158K |
Missense |
4/28 |
- |
2 |
7-55214348-C-G |
c.474C>G |
p.N158K |
Missense |
4/28 |
- |
1 |
7-55214348-CG-TC |
c.474_475delinsTC |
p.V159L |
Missense |
4/28 |
- |
2 |
7-55214348-C-T |
c.474C>T |
p.N158= |
Synonymous |
4/28 |
- |
82 |
7-55214349-G-A |
c.475G>A |
p.V159M |
Missense |
4/28 |
- |
7 |
7-55214349-G-C |
c.475G>C |
p.V159L |
Missense |
4/28 |
- |
2 |
7-55214349-GTG-ATC |
c.475_477delinsATC |
p.V159I |
Missense |
4/28 |
- |
1 |
7-55214350-T-A |
c.476T>A |
p.V159E |
Missense |
4/28 |
- |
2 |
7-55214350-T-C |
c.476T>C |
p.V159A |
Missense |
4/28 |
- |
1 |
7-55214351-G-A |
c.477G>A |
p.V159V |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214351-G-T |
c.477G>T |
p.V159= |
Synonymous |
4/28 |
- |
1 |
7-55214352-G-A |
c.478G>A |
p.E160K |
Missense |
4/28 |
- |
7 |
7-55214352-GAG-TGT |
c.478_480delinsTGT |
p.E160C |
Missense |
4/28 |
- |
2 |
7-55214352-G-C |
c.478G>C |
p.E160Q |
Missense |
4/28 |
- |
1 |
7-55214352-G-T |
c.478G>T |
p.E160* |
Nonsense |
4/28 |
- |
2 |
7-55214353-A-G |
c.479A>G |
p.E160G |
Missense |
4/28 |
- |
1 |
7-55214354-G-A |
c.480G>A |
p.E160= |
Synonymous |
4/28 |
- |
4 |
7-55214354-G-C |
c.480G>C |
p.E160D |
Missense |
4/28 |
- |
1 |
7-55214354-G-T |
c.480G>T |
p.E160D |
Missense |
4/28 |
- |
1 |
7-55214355-A-G |
c.481A>G |
p.S161G |
Missense |
4/28 |
- |
1 |
7-55214355-AG-TA |
c.481_482delinsTA |
p.S161Y |
Missense |
4/28 |
- |
1 |
7-55214356-G-A |
c.482G>A |
p.S161N |
Missense |
4/28 |
- |
3 |
7-55214357-C-A |
c.483C>A |
p.S161R |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214357-C-T |
c.483C>T |
p.S161S |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214358-A-T |
c.484A>T |
p.I162F |
Missense |
4/28 |
- |
2 |
7-55214359-T-C |
c.485T>C |
p.I162T |
UnclassifiedSNV |
4/28 |
- |
2 |
7-55214360-C-A |
c.486C>A |
p.I162= |
Synonymous |
4/28 |
- |
2 |
7-55214360-C-G |
c.486C>G |
p.I162M |
Missense |
4/28 |
- |
1 |
7-55214360-C-T |
c.486C>T |
p.I162= |
Synonymous |
4/28 |
- |
1 |
7-55214361-C-A |
c.487C>A |
p.Q163K |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214361-CAG-GAC |
c.487_489delinsGAC |
p.Q163D |
Missense |
4/28 |
- |
1 |
7-55214361-C-G |
c.487C>G |
p.Q163E |
Missense |
4/28 |
- |
1 |
7-55214361-C-T |
c.487C>T |
p.Q163* |
Nonsense |
4/28 |
- |
2 |
7-55214362-A-G |
c.488A>G |
p.Q163R |
Missense |
4/28 |
- |
1 |
7-55214362-A-T |
c.488A>T |
p.Q163L |
Missense |
4/28 |
- |
1 |
7-55214363-G-A |
c.489G>A |
p.Q163= |
Synonymous |
4/28 |
- |
1 |
7-55214364-T-A |
c.490T>A |
p.W164R |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214365-G-A |
c.491G>A |
p.W164* |
Nonsense |
4/28 |
- |
1 |
7-55214365-G-T |
c.491G>T |
p.W164L |
Missense |
4/28 |
- |
1 |
7-55214367-C-A |
c.493C>A |
p.R165= |
Synonymous |
4/28 |
- |
2 |
7-55214367-C-G |
c.493C>G |
p.R165G |
Missense |
4/28 |
- |
2 |
7-55214367-CG-AA |
c.493_494delinsAA |
p.R165K |
Missense |
4/28 |
- |
1 |
7-55214367-CG-GA |
c.493_494delinsGA |
p.R165E |
Missense |
4/28 |
- |
1 |
7-55214367-CGG-AGC |
c.493_495delinsAGC |
p.R165S |
Missense |
4/28 |
- |
3 |
7-55214367-CGG-TGT |
c.493_495delinsTGT |
p.R165C |
Missense |
4/28 |
- |
3 |
7-55214367-CG-TA |
c.493_494delinsTA |
p.R165* |
Nonsense |
4/28 |
- |
1 |
7-55214367-C-T |
c.493C>T |
p.R165W |
Missense |
4/28 |
- |
16 |
7-55214369-G-T |
c.495G>T |
p.R165= |
Synonymous |
4/28 |
- |
2 |
7-55214368-G-A |
c.494G>A |
p.R165Q |
Missense |
4/28 |
- |
15 |
7-55214368-GG-AT |
c.494_495delinsAT |
p.R165H |
Missense |
4/28 |
- |
2 |
7-55214368-G-T |
c.494G>T |
p.R165L |
Missense |
4/28 |
- |
3 |
7-55214369-G-A |
c.495G>A |
p.R165R |
UnclassifiedSNV |
4/28 |
- |
2 |
7-55214369-G-C |
c.495G>C |
p.R165= |
Synonymous |
4/28 |
- |
2 |
7-55214370-G-A |
c.496G>A |
p.D166N |
Missense |
4/28 |
- |
5 |
7-55214370-GGAC-G |
c.496_498del |
p.D166del |
InFrameDeletion |
4/28 |
- |
2 |
7-55214372-C-A |
c.498C>A |
p.D166E |
Missense |
4/28 |
- |
1 |
7-55214372-C-T |
c.498C>T |
p.D166= |
Synonymous |
4/28 |
- |
1 |
7-55214373-A-C |
c.499A>C |
p.I167L |
Missense |
4/28 |
- |
2 |
7-55214373-A-T |
c.499A>T |
p.I167L |
Missense |
4/28 |
- |
2 |
7-55214373-AT-GC |
c.499_500delinsGC |
p.I167A |
Missense |
4/28 |
- |
1 |
7-55214374-T-C |
c.500T>C |
p.I167T |
Missense |
4/28 |
- |
5 |
7-55214375-A-G |
c.501A>G |
p.I167M |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214375-A-T |
c.501A>T |
p.I167= |
Synonymous |
4/28 |
- |
1 |
7-55214376-G-A |
c.502G>A |
p.V168I |
Missense |
4/28 |
- |
1 |
7-55214376-G-C |
c.502G>C |
p.V168L |
Missense |
4/28 |
- |
2 |
7-55214376-G-T |
c.502G>T |
p.V168F |
Missense |
4/28 |
- |
1 |
7-55214376-GTC-ATG |
c.502_504delinsATG |
p.V168M |
Missense |
4/28 |
- |
1 |
7-55214377-T-A |
c.503T>A |
p.V168D |
Missense |
4/28 |
- |
2 |
7-55214378-C-A |
c.504C>A |
p.V168V |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214378-C-CT |
c.504_505insT |
p.S169* |
Nonsense |
4/28 |
- |
1 |
7-55214379-A-C |
c.505A>C |
p.S169R |
Missense |
4/28 |
- |
1 |
7-55214379-AG-CC |
c.505_506delinsCC |
p.S169P |
Missense |
4/28 |
- |
1 |
7-55214379-AGC-GAG |
c.505_507delinsGAG |
p.S169E |
Missense |
4/28 |
- |
1 |
7-55214379-AG-GC |
c.505_506delinsGC |
p.S169A |
Missense |
4/28 |
- |
1 |
7-55214379-AG-TT |
c.505_506delinsTT |
p.S169F |
Missense |
4/28 |
- |
2 |
7-55214379-A-T |
c.505A>T |
p.S169C |
Missense |
4/28 |
- |
1 |
7-55214379-CA-C |
c.505del |
p.S169Afs*42 |
Frameshift |
4/28 |
- |
1 |
7-55214380-G-A |
c.506G>A |
p.S169N |
Missense |
4/28 |
- |
3 |
7-55214380-G-T |
c.506G>T |
p.S169I |
Missense |
4/28 |
- |
1 |
7-55214381-C-A |
c.507C>A |
p.S169R |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214381-C-T |
c.507C>T |
p.S169= |
Synonymous |
4/28 |
- |
2 |
7-55214382-AG-TA |
c.508_509delinsTA |
p.S170Y |
Missense |
4/28 |
- |
3 |
7-55214382-A-T |
c.508A>T |
p.S170C |
Missense |
4/28 |
- |
3 |
7-55214383-G-A |
c.509G>A |
p.S170N |
Missense |
4/28 |
- |
3 |
7-55214383-G-T |
c.509G>T |
p.S170I |
Missense |
4/28 |
- |
4 |
7-55214385-G-A |
c.511G>A |
p.D171N |
Missense |
4/28 |
- |
4 |
7-55214385-GA-AG |
c.511_512delinsAG |
p.D171S |
Missense |
4/28 |
- |
1 |
7-55214385-G-C |
c.511G>C |
p.D171H |
Missense |
4/28 |
- |
2 |
7-55214385-G-T |
c.511G>T |
p.D171Y |
Missense |
4/28 |
- |
1 |
7-55214386-A-G |
c.512A>G |
p.D171G |
Missense |
4/28 |
- |
2 |
7-55214387-C-A |
c.513C>A |
p.D171E |
Missense |
4/28 |
- |
2 |
7-55214387-C-T |
c.513C>T |
p.D171= |
Synonymous |
4/28 |
- |
2 |
7-55214388-T-A |
c.514T>A |
p.F172I |
Missense |
4/28 |
- |
1 |
7-55214388-T-C |
c.514T>C |
p.F172L |
Missense |
4/28 |
- |
3 |
7-55214390-T-A |
c.516T>A |
p.F172L |
Missense |
4/28 |
- |
2 |
7-55214390-T-G |
c.516T>G |
p.F172L |
Missense |
4/28 |
- |
2 |
7-55214389-T-C |
c.515T>C |
p.F172S |
Missense |
4/28 |
- |
1 |
7-55214390-T-C |
c.516T>C |
p.F172F |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214391-C-A |
c.517C>A |
p.L173I |
Missense |
4/28 |
- |
1 |
7-55214391-C-G |
c.517C>G |
p.L173V |
Missense |
4/28 |
- |
1 |
7-55214391-C-T |
c.517C>T |
p.L173F |
Missense |
4/28 |
- |
5 |
7-55214393-C-A |
c.519C>A |
p.L173= |
Synonymous |
4/28 |
- |
3 |
7-55214393-C-G |
c.519C>G |
p.L173= |
Synonymous |
4/28 |
- |
3 |
7-55214393-C-T |
c.519C>T |
p.L173= |
Synonymous |
4/28 |
- |
2 |
7-55214394-A-G |
c.520A>G |
p.S174G |
Missense |
4/28 |
- |
3 |
7-55214394-AGC-TGA |
c.520_522delinsTGA |
p.S174* |
Nonsense |
4/28 |
- |
1 |
7-55214394-AG-GC |
c.520_521delinsGC |
p.S174A |
Missense |
4/28 |
- |
1 |
7-55214394-AG-GT |
c.520_521delinsGT |
p.S174V |
Missense |
4/28 |
- |
1 |
7-55214394-A-T |
c.520A>T |
p.S174C |
Missense |
4/28 |
- |
1 |
7-55214395-G-A |
c.521G>A |
p.S174N |
Missense |
4/28 |
- |
1 |
7-55214395-G-T |
c.521G>T |
p.S174I |
Missense |
4/28 |
- |
1 |
7-55214394-A-C |
c.520A>C |
p.S174R |
Missense |
4/28 |
- |
2 |
7-55214396-C-A |
c.522C>A |
p.S174R |
Missense |
4/28 |
- |
3 |
7-55214396-C-G |
c.522C>G |
p.S174R |
Missense |
4/28 |
- |
3 |
7-55214396-C-T |
c.522C>T |
p.S174= |
Synonymous |
4/28 |
- |
1 |
7-55214397-AAC-CAA |
c.523_525delinsCAA |
p.N175Q |
Missense |
4/28 |
- |
2 |
7-55214397-A-G |
c.523A>G |
p.N175D |
Missense |
4/28 |
- |
1 |
7-55214398-A-G |
c.524A>G |
p.N175S |
Missense |
4/28 |
- |
4 |
7-55214398-A-T |
c.524A>T |
p.N175I |
Missense |
4/28 |
- |
1 |
7-55214399-C-A |
c.525C>A |
p.N175K |
Missense |
4/28 |
- |
3 |
7-55214399-C-G |
c.525C>G |
p.N175K |
Missense |
4/28 |
- |
1 |
7-55214399-C-T |
c.525C>T |
p.N175= |
Synonymous |
4/28 |
- |
1 |
7-55214400-A-G |
c.526A>G |
p.M176V |
Missense |
4/28 |
- |
2 |
7-55214401-T-C |
c.527T>C |
p.M176T |
Missense |
4/28 |
- |
1 |
7-55214402-G-A |
c.528G>A |
p.M176I |
Missense |
4/28 |
- |
1 |
7-55214402-G-C |
c.528G>C |
p.M176I |
Missense |
4/28 |
- |
2 |
7-55214402-G-T |
c.528G>T |
p.M176I |
Missense |
4/28 |
- |
2 |
7-55214403-GT-G |
c.529del |
p.S177Rfs*34 |
Frameshift |
4/28 |
- |
1 |
7-55214403-T-C |
c.529T>C |
p.S177P |
Missense |
4/28 |
- |
2 |
7-55214403-TC-GA |
c.529_530inv |
p.S177E |
Missense |
4/28 |
- |
3 |
7-55214403-T-G |
c.529T>G |
p.S177A |
Missense |
4/28 |
- |
2 |
7-55214404-C-A |
c.530C>A |
p.S177* |
Nonsense |
4/28 |
- |
2 |
7-55214404-C-G |
c.530C>G |
p.S177W |
Missense |
4/28 |
- |
2 |
7-55214404-CG-TT |
c.530_531delinsTT |
p.S177F |
Missense |
4/28 |
- |
1 |
7-55214404-C-T |
c.530C>T |
p.S177L |
Missense |
4/28 |
- |
7 |
7-55214405-G-A |
c.531G>A |
p.S177= |
Synonymous |
4/28 |
- |
6 |
7-55214405-G-C |
c.531G>C |
p.S177= |
Synonymous |
4/28 |
- |
4 |
7-55214405-G-T |
c.531G>T |
p.S177= |
Synonymous |
4/28 |
- |
1 |
7-55214406-A-C |
c.532A>C |
p.M178L |
Missense |
4/28 |
- |
1 |
7-55214406-A-T |
c.532A>T |
p.M178L |
Missense |
4/28 |
- |
1 |
7-55214407-T-A |
c.533T>A |
p.M178K |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214407-T-C |
c.533T>C |
p.M178T |
Missense |
4/28 |
- |
1 |
7-55214408-G-A |
c.534G>A |
p.M178I |
Missense |
4/28 |
- |
8 |
7-55214408-G-C |
c.534G>C |
p.M178I |
Missense |
4/28 |
- |
5 |
7-55214408-G-T |
c.534G>T |
p.M178I |
Missense |
4/28 |
- |
5 |
7-55214409-G-A |
c.535G>A |
p.D179N |
Missense |
4/28 |
- |
2 |
7-55214410-A-G |
c.536A>G |
p.D179G |
Missense |
4/28 |
- |
2 |
7-55214411-C-A |
c.537C>A |
p.D179E |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214411-C-T |
c.537C>T |
p.D179= |
Synonymous |
4/28 |
- |
2 |
7-55214413-T-C |
c.539T>C |
p.F180S |
UnclassifiedSNV |
4/28 |
- |
2 |
7-55214414-C-A |
c.540C>A |
p.F180L |
Missense |
4/28 |
- |
1 |
7-55214414-C-T |
c.540C>T |
p.F180= |
Synonymous |
4/28 |
- |
6 |
7-55214415-C-A |
c.541C>A |
p.Q181K |
Missense |
4/28 |
- |
4 |
7-55214415-CA-AC |
c.541_542delinsAC |
p.Q181T |
Missense |
4/28 |
- |
1 |
7-55214415-C-G |
c.541C>G |
p.Q181E |
Missense |
4/28 |
- |
1 |
7-55214416-A-G |
c.542A>G |
p.Q181R |
UnclassifiedSNV |
4/28 |
- |
2 |
7-55214417-G-C |
c.543G>C |
p.Q181H |
Missense |
4/28 |
- |
1 |
7-55214417-G-T |
c.543G>T |
p.Q181H |
Missense |
4/28 |
- |
2 |
7-55214418-AAC-CAA |
c.544_546delinsCAA |
p.N182Q |
Missense |
4/28 |
- |
3 |
7-55214419-A-G |
c.545A>G |
p.N182S |
UnclassifiedSNV |
4/28 |
- |
3 |
7-55214420-C-A |
c.546C>A |
p.N182K |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214421-C-A |
c.547C>A |
p.H183N |
UnclassifiedSNV |
4/28 |
- |
2 |
7-55214421-C-G |
c.547C>G |
p.H183D |
Missense |
4/28 |
- |
5 |
7-55214421-C-T |
c.547C>T |
p.H183Y |
Missense |
4/28 |
- |
3 |
7-55214422-A-G |
c.548A>G |
p.H183R |
Missense |
4/28 |
- |
1 |
7-55214423-C-A |
c.549C>A |
p.H183Q |
Missense |
4/28 |
- |
1 |
7-55214423-C-T |
c.549C>T |
p.H183= |
Synonymous |
4/28 |
- |
1 |
7-55214424-C-A |
c.550C>A |
p.L184M |
Missense |
4/28 |
- |
2 |
7-55214424-C-G |
c.550C>G |
p.L184V |
Missense |
4/28 |
- |
2 |
7-55214424-C-T |
c.550C>T |
p.L184L |
UnclassifiedSNV |
4/28 |
- |
1 |
7-55214425-T-C |
c.551T>C |
p.L184P |
UnclassifiedSNV |
4/28 |
- |
2 |
7-55214427-G-A |
c.553G>A |
p.G185S |
Missense |
4/28 |
- |
1 |
7-55214427-G-C |
c.553G>C |
p.G185R |
Missense |
4/28 |
- |
2 |
7-55214427-GG-AC |
c.553_554delinsAC |
p.G185T |
Missense |
4/28 |
- |
1 |
7-55214428-G-A |
c.554G>A |
p.G185D |
Missense |
4/28 |
- |
2 |
7-55214428-G-C |
c.554G>C |
p.G185A |
Missense |
4/28 |
- |
1 |
7-55214429-C-A |
c.555C>A |
p.G185= |
Synonymous |
4/28 |
- |
2 |
7-55214429-C-G |
c.555C>G |
p.G185= |
Synonymous |
4/28 |
- |
1 |
7-55214429-C-T |
c.555C>T |
p.G185= |
Synonymous |
4/28 |
- |
2 |
7-55214430-A-C |
c.556A>C |
p.S186R |
Missense |
4/28 |
- |
2 |
7-55214430-A-G |
c.556A>G |
p.S186G |
Missense |
4/28 |
- |
1 |
7-55214430-AG-GC |
c.556_557delinsGC |
p.S186A |
Missense |
4/28 |
- |
1 |
7-55214430-AG-TA |
c.556_557delinsTA |
p.S186Y |
Missense |
4/28 |
- |
1 |
7-55214431-G-A |
c.557G>A |
p.S186N |
Missense |
4/28 |
- |
2 |
7-55214432-C-A |
c.558C>A |
p.S186R |
UnclassifiedSNV |
4/28 |
- |
2 |
7-55214432-C-G |
c.558C>G |
p.S186R |
Missense |
4/28 |
- |
1 |
7-55214432-C-T |
c.558C>T |
p.S186= |
Synonymous |
4/28 |
- |
1 |
7-55214433-T-A |
c.559T>A |
p.C187S |
Missense |
4/28 |
- |
2 |
7-55214433-T-C |
c.559T>C |
p.C187R |
Missense |
4/28 |
- |
4 |
7-55218987-G-C |
c.560G>C |
p.C187S |
Missense |
5/28 |
- |
1 |
7-55214434-G-A |
c.559+1G>A |
- |
IntronicSNV |
- |
4/27 |
2 |
7-55214434-G-T |
c.559+1G>T |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55214436-A-G |
c.559+3A>G |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55214437-A-T |
c.559+4A>T |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55214439-T-A |
c.559+6T>A |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55214441-T-C |
c.559+8T>C |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55214442-C-A |
c.559+9C>A |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55214442-C-T |
c.559+9C>T |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55214443-G-A |
c.559+10G>A |
- |
IntronicSNV |
- |
4/27 |
20 |
7-55214444-C-A |
c.559+11C>A |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55214474-T-G |
c.559+41T>G |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55214515-ATGTTTAGTAAG-A |
c.559+84_559+94del |
- |
IntronicDeletion |
- |
4/27 |
1 |
7-55214531-A-G |
c.559+98A>G |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55214535-A-T |
c.559+102A>T |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55214539-G-A |
c.559+106G>A |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55214543-C-A |
c.559+110C>A |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55214647-G-T |
c.559+214G>T |
- |
IntronicSNV |
- |
4/27 |
7 |
7-55214781-C-T |
c.559+348C>T |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55215018-A-C |
c.559+585A>C |
- |
IntronicSNV |
- |
4/27 |
14 |
7-55215431-G-C |
c.559+998G>C |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55215602-A-T |
c.559+1169A>T |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55215619-G-A |
c.559+1186G>A |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55215661-C-T |
c.559+1228C>T |
- |
IntronicSNV |
- |
4/27 |
3 |
7-55215909-G-C |
c.559+1476G>C |
- |
IntronicSNV |
- |
4/27 |
2 |
7-55216386-T-C |
c.559+1953T>C |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55217091-C-T |
c.560-1896C>T |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55217298-T-C |
c.560-1689T>C |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55217400-A-G |
c.560-1587A>G |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55217821-G-C |
c.560-1166G>C |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55217888-A-G |
c.560-1099A>G |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55217956-C-T |
c.560-1031C>T |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55218356-G-A |
c.560-631G>A |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55218450-C-T |
c.560-537C>T |
- |
IntronicSNV |
- |
4/27 |
2 |
7-55218749-G-A |
c.560-238G>A |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55218803-T-A |
c.560-184T>A |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55218803-T-C |
c.560-184T>C |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55218903-T-C |
c.560-84T>C |
- |
IntronicSNV |
- |
4/27 |
17 |
7-55218921-G-A |
c.560-66G>A |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55218921-G-C |
c.560-66G>C |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55218931-G-A |
c.560-56G>A |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55218984-CAGGCCAAA-C |
c.560_567del |
p.C187Lfs*2 |
SpliceAcceptorDeletion |
5/28 |
- |
1 |
7-55218987-G-A |
c.560G>A |
p.C187Y |
Missense |
5/28 |
- |
2 |
7-55218987-G-T |
c.560G>T |
p.C187F |
Missense |
5/28 |
- |
1 |
7-55218988-C-A |
c.561C>A |
p.C187* |
Nonsense |
5/28 |
- |
1 |
7-55218988-C-T |
c.561C>T |
p.C187= |
Synonymous |
5/28 |
- |
9 |
7-55218989-C-A |
c.562C>A |
p.Q188K |
Missense |
5/28 |
- |
1 |
7-55218990-A-G |
c.563A>G |
p.Q188R |
Missense |
5/28 |
- |
1 |
7-55218990-A-T |
c.563A>T |
p.Q188L |
Missense |
5/28 |
- |
1 |
7-55218991-A-C |
c.564A>C |
p.Q188H |
Missense |
5/28 |
- |
1 |
7-55218991-A-T |
c.564A>T |
p.Q188H |
Missense |
5/28 |
- |
1 |
7-55218992-AA-GC |
c.565_566delinsGC |
p.K189A |
Missense |
5/28 |
- |
1 |
7-55218989-CA-C |
c.566del |
p.K189Sfs*22 |
Frameshift |
5/28 |
- |
1 |
7-55218993-A-C |
c.566A>C |
p.K189T |
Missense |
5/28 |
- |
2 |
7-55218993-A-G |
c.566A>G |
p.K189R |
Missense |
5/28 |
- |
4 |
7-55218994-G-C |
c.567G>C |
p.K189N |
Missense |
5/28 |
- |
2 |
7-55218994-G-T |
c.567G>T |
p.K189N |
Missense |
5/28 |
- |
2 |
7-55218996-G-T |
c.569G>T |
p.C190F |
Missense |
5/28 |
- |
1 |
7-55218998-G-A |
c.571G>A |
p.D191N |
Missense |
5/28 |
- |
8 |
7-55218998-G-C |
c.571G>C |
p.D191H |
Missense |
5/28 |
- |
1 |
7-55218998-G-T |
c.571G>T |
p.D191Y |
Missense |
5/28 |
- |
1 |
7-55219001-C-A |
c.574C>A |
p.P192T |
Missense |
5/28 |
- |
4 |
7-55219001-C-G |
c.574C>G |
p.P192A |
Missense |
5/28 |
- |
1 |
7-55219001-C-T |
c.574C>T |
p.P192S |
Missense |
5/28 |
- |
7 |
7-55219002-C-A |
c.575C>A |
p.P192Q |
Missense |
5/28 |
- |
2 |
7-55219002-C-T |
c.575C>T |
p.P192L |
Missense |
5/28 |
- |
1 |
7-55219003-A-C |
c.576A>C |
p.P192= |
Synonymous |
5/28 |
- |
1 |
7-55219003-A-G |
c.576A>G |
p.P192= |
Synonymous |
5/28 |
- |
1 |
7-55219003-A-T |
c.576A>T |
p.P192= |
Synonymous |
5/28 |
- |
2 |
7-55219004-A-G |
c.577A>G |
p.S193G |
Missense |
5/28 |
- |
1 |
7-55219004-AG-CT |
c.577_578inv |
p.S193L |
Missense |
5/28 |
- |
2 |
7-55219004-A-T |
c.577A>T |
p.S193C |
Missense |
5/28 |
- |
2 |
7-55219005-G-A |
c.578G>A |
p.S193N |
Missense |
5/28 |
- |
1 |
7-55219004-A-C |
c.577A>C |
p.S193R |
Missense |
5/28 |
- |
3 |
7-55219006-C-A |
c.579C>A |
p.S193R |
Missense |
5/28 |
- |
4 |
7-55219006-C-G |
c.579C>G |
p.S193R |
Missense |
5/28 |
- |
3 |
7-55219006-C-T |
c.579C>T |
p.S193= |
Synonymous |
5/28 |
- |
1 |
7-55219007-T-A |
c.580T>A |
p.C194S |
Missense |
5/28 |
- |
2 |
7-55219007-T-C |
c.580T>C |
p.C194R |
Missense |
5/28 |
- |
1 |
7-55219007-TG-AC |
c.580_581delinsAC |
p.C194T |
Missense |
5/28 |
- |
2 |
7-55219007-TG-GC |
c.580_581delinsGC |
p.C194A |
Missense |
5/28 |
- |
2 |
7-55219008-G-C |
c.581G>C |
p.C194S |
Missense |
5/28 |
- |
2 |
7-55219008-G-A |
c.581G>A |
p.C194Y |
Missense |
5/28 |
- |
1 |
7-55219008-G-T |
c.581G>T |
p.C194F |
Missense |
5/28 |
- |
2 |
7-55219010-C-G |
c.583C>G |
p.P195A |
Missense |
5/28 |
- |
1 |
7-55219010-C-T |
c.583C>T |
p.P195S |
Missense |
5/28 |
- |
3 |
7-55219011-C-A |
c.584C>A |
p.P195H |
Missense |
5/28 |
- |
1 |
7-55219011-CC-AA |
c.584_585delinsAA |
p.P195Q |
Missense |
5/28 |
- |
1 |
7-55219011-C-T |
c.584C>T |
p.P195L |
Missense |
5/28 |
- |
3 |
7-55219012-C-A |
c.585C>A |
p.P195= |
Synonymous |
5/28 |
- |
1 |
7-55219012-C-T |
c.585C>T |
p.P195= |
Synonymous |
5/28 |
- |
1 |
7-55219013-A-G |
c.586A>G |
p.N196D |
Missense |
5/28 |
- |
2 |
7-55219013-CAATGGGA-C |
c.586_592del |
p.N196Afs*13 |
Frameshift |
5/28 |
- |
1 |
7-55219014-A-G |
c.587A>G |
p.N196S |
Missense |
5/28 |
- |
2 |
7-55219016-GGG-TGT |
c.589_591delinsTGT |
p.G197C |
Missense |
5/28 |
- |
1 |
7-55219016-G-T |
c.589G>T |
p.G197W |
Missense |
5/28 |
- |
3 |
7-55219017-G-A |
c.590G>A |
p.G197E |
Missense |
5/28 |
- |
2 |
7-55219017-G-C |
c.590G>C |
p.G197A |
Missense |
5/28 |
- |
1 |
7-55219017-GG-AC |
c.590_591delinsAC |
p.G197D |
Missense |
5/28 |
- |
1 |
7-55219017-G-T |
c.590G>T |
p.G197V |
Missense |
5/28 |
- |
1 |
7-55219018-G-A |
c.591G>A |
p.G197= |
Synonymous |
5/28 |
- |
3 |
7-55219018-G-C |
c.591G>C |
p.G197= |
Synonymous |
5/28 |
- |
1 |
7-55219018-G-T |
c.591G>T |
p.G197= |
Synonymous |
5/28 |
- |
1 |
7-55219019-AG-CC |
c.592_593delinsCC |
p.S198P |
Missense |
5/28 |
- |
1 |
7-55219019-AGC-GAG |
c.592_594delinsGAG |
p.S198E |
Missense |
5/28 |
- |
1 |
7-55219019-AG-GC |
c.592_593delinsGC |
p.S198A |
Missense |
5/28 |
- |
1 |
7-55219020-G-A |
c.593G>A |
p.S198N |
Missense |
5/28 |
- |
7 |
7-55219019-A-C |
c.592A>C |
p.S198R |
Missense |
5/28 |
- |
5 |
7-55219021-C-A |
c.594C>A |
p.S198R |
Missense |
5/28 |
- |
6 |
7-55219021-C-G |
c.594C>G |
p.S198R |
Missense |
5/28 |
- |
5 |
7-55219021-C-T |
c.594C>T |
p.S198= |
Synonymous |
5/28 |
- |
12 |
7-55219022-T-A |
c.595T>A |
p.C199S |
Missense |
5/28 |
- |
3 |
7-55219022-T-C |
c.595T>C |
p.C199R |
Missense |
5/28 |
- |
2 |
7-55219022-TG-GT |
c.595_596delinsGT |
p.C199V |
Missense |
5/28 |
- |
1 |
7-55219023-G-C |
c.596G>C |
p.C199S |
Missense |
5/28 |
- |
5 |
7-55219023-G-A |
c.596G>A |
p.C199Y |
Missense |
5/28 |
- |
2 |
7-55219023-G-T |
c.596G>T |
p.C199F |
Missense |
5/28 |
- |
5 |
7-55219024-C-T |
c.597C>T |
p.C199= |
Synonymous |
5/28 |
- |
1 |
7-55219026-G-A |
c.599G>A |
p.W200* |
Nonsense |
5/28 |
- |
3 |
7-55219026-G-T |
c.599G>T |
p.W200L |
Missense |
5/28 |
- |
2 |
7-55219027-G-A |
c.600G>A |
p.W200* |
Nonsense |
5/28 |
- |
1 |
7-55219027-G-C |
c.600G>C |
p.W200C |
Missense |
5/28 |
- |
2 |
7-55219027-G-T |
c.600G>T |
p.W200C |
Missense |
5/28 |
- |
3 |
7-55219028-G-A |
c.601G>A |
p.G201S |
Missense |
5/28 |
- |
1 |
7-55219028-G-C |
c.601G>C |
p.G201R |
Missense |
5/28 |
- |
1 |
7-55219028-G-T |
c.601G>T |
p.G201C |
Missense |
5/28 |
- |
1 |
7-55219029-G-A |
c.602G>A |
p.G201D |
Missense |
5/28 |
- |
3 |
7-55219029-G-C |
c.602G>C |
p.G201A |
Missense |
5/28 |
- |
4 |
7-55219029-G-T |
c.602G>T |
p.G201V |
Missense |
5/28 |
- |
1 |
7-55219029-GT-AG |
c.602_603delinsAG |
p.G201E |
Missense |
5/28 |
- |
1 |
7-55219031-G-A |
c.604G>A |
p.A202T |
Missense |
5/28 |
- |
3 |
7-55219032-C-G |
c.605C>G |
p.A202G |
Missense |
5/28 |
- |
3 |
7-55219032-C-T |
c.605C>T |
p.A202V |
Missense |
5/28 |
- |
2 |
7-55219033-A-C |
c.606A>C |
p.A202= |
Synonymous |
5/28 |
- |
1 |
7-55219033-A-G |
c.606A>G |
p.A202= |
Synonymous |
5/28 |
- |
2 |
7-55219033-A-T |
c.606A>T |
p.A202= |
Synonymous |
5/28 |
- |
1 |
7-55219034-G-A |
c.607G>A |
p.G203R |
Missense |
5/28 |
- |
9 |
7-55219034-G-C |
c.607G>C |
p.G203R |
Missense |
5/28 |
- |
8 |
7-55219034-GG-AC |
c.607_608delinsAC |
p.G203T |
Missense |
5/28 |
- |
1 |
7-55219034-GGA-TGT |
c.607_609delinsTGT |
p.G203C |
Missense |
5/28 |
- |
1 |
7-55219035-G-A |
c.608G>A |
p.G203E |
Missense |
5/28 |
- |
3 |
7-55219035-GA-AC |
c.608_609delinsAC |
p.G203D |
Missense |
5/28 |
- |
1 |
7-55219035-G-C |
c.608G>C |
p.G203A |
Missense |
5/28 |
- |
1 |
7-55219035-G-T |
c.608G>T |
p.G203V |
Missense |
5/28 |
- |
1 |
7-55219037-G-A |
c.610G>A |
p.E204K |
Missense |
5/28 |
- |
8 |
7-55219037-G-C |
c.610G>C |
p.E204Q |
Missense |
5/28 |
- |
1 |
7-55219037-G-T |
c.610G>T |
p.E204* |
Nonsense |
5/28 |
- |
2 |
7-55219038-AG-A |
c.613del |
p.E205Rfs*6 |
Frameshift |
5/28 |
- |
1 |
7-55219040-G-A |
c.613G>A |
p.E205K |
Missense |
5/28 |
- |
3 |
7-55219041-A-C |
c.614A>C |
p.E205A |
Missense |
5/28 |
- |
1 |
7-55219042-G-A |
c.615G>A |
p.E205= |
Synonymous |
5/28 |
- |
1 |
7-55219043-A-C |
c.616A>C |
p.N206H |
Missense |
5/28 |
- |
1 |
7-55219044-A-C |
c.617A>C |
p.N206T |
Missense |
5/28 |
- |
1 |
7-55219045-C-A |
c.618C>A |
p.N206K |
Missense |
5/28 |
- |
3 |
7-55219045-C-G |
c.618C>G |
p.N206K |
Missense |
5/28 |
- |
1 |
7-55219045-C-T |
c.618C>T |
p.N206= |
Synonymous |
5/28 |
- |
1 |
7-55219047-G-A |
c.620G>A |
p.C207Y |
Missense |
5/28 |
- |
2 |
7-55219047-G-GGGAA |
c.620_621insGGAA |
p.C207Wfs*25 |
Frameshift |
5/28 |
- |
1 |
7-55219048-C-A |
c.621C>A |
p.C207* |
Nonsense |
5/28 |
- |
1 |
7-55219049-C-G |
c.622C>G |
p.Q208E |
Missense |
5/28 |
- |
3 |
7-55219049-C-T |
c.622C>T |
p.Q208* |
Nonsense |
5/28 |
- |
6 |
7-55219051-G-A |
c.624G>A |
p.Q208= |
Synonymous |
5/28 |
- |
1 |
7-55219051-G-T |
c.624G>T |
p.Q208H |
Missense |
5/28 |
- |
1 |
7-55219052-AAA-GAC |
c.625_627delinsGAC |
p.K209D |
Missense |
5/28 |
- |
1 |
7-55219052-A-C |
c.625A>C |
p.K209Q |
Missense |
5/28 |
- |
1 |
7-55219052-A-G |
c.625A>G |
p.K209E |
Missense |
5/28 |
- |
1 |
7-55219053-A-C |
c.626A>C |
p.K209T |
Missense |
5/28 |
- |
2 |
7-55219053-A-T |
c.626A>T |
p.K209I |
Missense |
5/28 |
- |
2 |
7-55219054-A-C |
c.627A>C |
p.K209N |
Missense |
5/28 |
- |
5 |
7-55219054-A-G |
c.627A>G |
p.K209= |
Synonymous |
5/28 |
- |
1 |
7-55219054-A-T |
c.627A>T |
p.K209N |
Missense |
5/28 |
- |
3 |
7-55219055-C-A |
c.628C>A |
p.L210M |
Missense |
5/28 |
- |
2 |
7-55219055-C-T |
c.628C>T |
p.L210= |
Synonymous |
5/28 |
- |
3 |
7-55219056-G-A |
c.628+1G>A |
- |
IntronicSNV |
- |
5/27 |
3 |
7-55219056-G-T |
c.628+1G>T |
- |
IntronicSNV |
- |
5/27 |
2 |
7-55219067-A-G |
c.628+12A>G |
- |
IntronicSNV |
- |
5/27 |
1 |
7-55219159-C-G |
c.628+104C>G |
- |
IntronicSNV |
- |
5/27 |
14 |
7-55219159-C-T |
c.628+104C>T |
- |
IntronicSNV |
- |
5/27 |
20 |
7-55219290-T-A |
c.628+235T>A |
- |
IntronicSNV |
- |
5/27 |
4 |
7-55219290-T-C |
c.628+235T>C |
- |
IntronicSNV |
- |
5/27 |
5 |
7-55219292-GGC-G |
c.628+241_628+242del |
- |
IntronicDeletion |
- |
5/27 |
1 |
7-55219307-C-G |
c.628+252C>G |
- |
IntronicSNV |
- |
5/27 |
5 |
7-55219419-T-A |
c.628+364T>A |
- |
IntronicSNV |
- |
5/27 |
1 |
7-55219419-T-G |
c.628+364T>G |
- |
IntronicSNV |
- |
5/27 |
1 |
7-55219435-C-T |
c.628+380C>T |
- |
IntronicSNV |
- |
5/27 |
1 |
7-55219483-C-T |
c.628+428C>T |
- |
IntronicSNV |
- |
5/27 |
1 |
7-55219533-T-C |
c.628+478T>C |
- |
IntronicSNV |
- |
5/27 |
1 |
7-55219611-A-G |
c.628+556A>G |
- |
IntronicSNV |
- |
5/27 |
7 |
7-55220177-A-G |
c.629-62A>G |
- |
IntronicSNV |
- |
5/27 |
24 |
7-55220239-T-A |
c.629T>A |
p.L210Q |
Missense |
6/28 |
- |
2 |
7-55220240-G-A |
c.630G>A |
p.L210= |
Synonymous |
6/28 |
- |
2 |
7-55220240-G-T |
c.630G>T |
p.L210= |
Synonymous |
6/28 |
- |
1 |
7-55220242-C-A |
c.632C>A |
p.T211N |
Missense |
6/28 |
- |
1 |
7-55220242-CC-TG |
c.632_633delinsTG |
p.T211M |
Missense |
6/28 |
- |
1 |
7-55220242-C-G |
c.632C>G |
p.T211S |
Missense |
6/28 |
- |
2 |
7-55220242-C-T |
c.632C>T |
p.T211I |
Missense |
6/28 |
- |
1 |
7-55220241-AC-A |
c.633del |
p.I213Sfs*67 |
Frameshift |
6/28 |
- |
1 |
7-55220243-C-A |
c.633C>A |
p.T211= |
Synonymous |
6/28 |
- |
1 |
7-55220243-C-G |
c.633C>G |
p.T211= |
Synonymous |
6/28 |
- |
1 |
7-55220243-C-T |
c.633C>T |
p.T211= |
Synonymous |
6/28 |
- |
1 |
7-55220244-A-C |
c.634A>C |
p.K212Q |
Missense |
6/28 |
- |
1 |
7-55220245-A-C |
c.635A>C |
p.K212T |
Missense |
6/28 |
- |
2 |
7-55220246-A-C |
c.636A>C |
p.K212N |
Missense |
6/28 |
- |
2 |
7-55220246-A-G |
c.636A>G |
p.K212= |
Synonymous |
6/28 |
- |
1 |
7-55220246-A-T |
c.636A>T |
p.K212N |
Missense |
6/28 |
- |
3 |
7-55220247-A-G |
c.637A>G |
p.I213V |
Missense |
6/28 |
- |
2 |
7-55220248-AT-A |
c.638del |
p.I213Tfs*67 |
Frameshift |
6/28 |
- |
1 |
7-55220249-C-A |
c.639C>A |
p.I213= |
Synonymous |
6/28 |
- |
2 |
7-55220249-C-T |
c.639C>T |
p.I213= |
Synonymous |
6/28 |
- |
3 |
7-55220250-A-C |
c.640A>C |
p.I214L |
Missense |
6/28 |
- |
2 |
7-55220250-A-T |
c.640A>T |
p.I214F |
Missense |
6/28 |
- |
1 |
7-55220250-AT-GC |
c.640_641delinsGC |
p.I214A |
Missense |
6/28 |
- |
1 |
7-55220251-T-C |
c.641T>C |
p.I214T |
Missense |
6/28 |
- |
1 |
7-55220253-T-A |
c.643T>A |
p.C215S |
Missense |
6/28 |
- |
4 |
7-55220253-T-C |
c.643T>C |
p.C215R |
Missense |
6/28 |
- |
1 |
7-55220253-T-G |
c.643T>G |
p.C215G |
Missense |
6/28 |
- |
1 |
7-55220253-TG-GC |
c.643_644delinsGC |
p.C215A |
Missense |
6/28 |
- |
3 |
7-55220254-G-C |
c.644G>C |
p.C215S |
Missense |
6/28 |
- |
4 |
7-55220254-G-A |
c.644G>A |
p.C215Y |
Missense |
6/28 |
- |
1 |
7-55220254-G-GGGAA |
c.644_645insGGAA |
p.C215Wfs*17 |
Frameshift |
6/28 |
- |
1 |
7-55220254-G-T |
c.644G>T |
p.C215F |
Missense |
6/28 |
- |
1 |
7-55220256-G-A |
c.646G>A |
p.A216T |
Missense |
6/28 |
- |
5 |
7-55220257-C-G |
c.647C>G |
p.A216G |
Missense |
6/28 |
- |
1 |
7-55220257-C-T |
c.647C>T |
p.A216V |
Missense |
6/28 |
- |
2 |
7-55220259-C-A |
c.649C>A |
p.Q217K |
Missense |
6/28 |
- |
1 |
7-55220259-C-T |
c.649C>T |
p.Q217* |
Nonsense |
6/28 |
- |
1 |
7-55220260-A-C |
c.650A>C |
p.Q217P |
Missense |
6/28 |
- |
2 |
7-55220260-A-T |
c.650A>T |
p.Q217L |
Missense |
6/28 |
- |
1 |
7-55220261-G-C |
c.651G>C |
p.Q217H |
Missense |
6/28 |
- |
2 |
7-55220261-G-T |
c.651G>T |
p.Q217H |
Missense |
6/28 |
- |
2 |
7-55220262-C-T |
c.652C>T |
p.Q218* |
Nonsense |
6/28 |
- |
1 |
7-55220263-A-T |
c.653A>T |
p.Q218L |
Missense |
6/28 |
- |
1 |
7-55220263-CAGT-C |
c.653_655del |
p.Q218_C219delinsR |
MultiAAMissense |
6/28 |
- |
1 |
7-55220264-G-T |
c.654G>T |
p.Q218H |
Missense |
6/28 |
- |
3 |
7-55220265-T-C |
c.655T>C |
p.C219R |
Missense |
6/28 |
- |
1 |
7-55220265-T-G |
c.655T>G |
p.C219G |
Missense |
6/28 |
- |
3 |
7-55220266-G-A |
c.656G>A |
p.C219Y |
Missense |
6/28 |
- |
2 |
7-55220266-G-T |
c.656G>T |
p.C219F |
Missense |
6/28 |
- |
1 |
7-55220267-C-A |
c.657C>A |
p.C219* |
Nonsense |
6/28 |
- |
2 |
7-55220268-T-C |
c.658T>C |
p.S220P |
Missense |
6/28 |
- |
8 |
7-55220268-TCC-GAG |
c.658_660delinsGAG |
p.S220E |
Missense |
6/28 |
- |
3 |
7-55220269-C-A |
c.659C>A |
p.S220Y |
Missense |
6/28 |
- |
1 |
7-55220269-CC-AT |
c.659_660delinsAT |
p.S220Y |
Missense |
6/28 |
- |
1 |
7-55220269-C-G |
c.659C>G |
p.S220C |
Missense |
6/28 |
- |
1 |
7-55220269-C-T |
c.659C>T |
p.S220F |
Missense |
6/28 |
- |
3 |
7-55220270-C-T |
c.660C>T |
p.S220= |
Synonymous |
6/28 |
- |
2 |
7-55220271-G-A |
c.661G>A |
p.G221R |
Missense |
6/28 |
- |
7 |
7-55220271-G-C |
c.661G>C |
p.G221R |
Missense |
6/28 |
- |
3 |
7-55220271-G-T |
c.661G>T |
p.G221W |
Missense |
6/28 |
- |
2 |
7-55220272-G-T |
c.662G>T |
p.G221V |
Missense |
6/28 |
- |
1 |
7-55220270-CG-C |
c.663del |
p.R222Afs*58 |
Frameshift |
6/28 |
- |
1 |
7-55220273-G-T |
c.663G>T |
p.G221= |
Synonymous |
6/28 |
- |
1 |
7-55220274-C-A |
c.664C>A |
p.R222S |
Missense |
6/28 |
- |
1 |
7-55220274-CG-AA |
c.664_665delinsAA |
p.R222N |
Missense |
6/28 |
- |
2 |
7-55220274-CG-AT |
c.664_665delinsAT |
p.R222I |
Missense |
6/28 |
- |
1 |
7-55220274-CGC-TGA |
c.664_666delinsTGA |
p.R222* |
Nonsense |
6/28 |
- |
1 |
7-55220274-CG-GC |
c.664_665delinsGC |
p.R222A |
Missense |
6/28 |
- |
1 |
7-55220274-C-T |
c.664C>T |
p.R222C |
Missense |
6/28 |
- |
59 |
7-55220275-G-A |
c.665G>A |
p.R222H |
Missense |
6/28 |
- |
10 |
7-55220275-G-T |
c.665G>T |
p.R222L |
Missense |
6/28 |
- |
7 |
7-55220276-C-A |
c.666C>A |
p.R222= |
Synonymous |
6/28 |
- |
3 |
7-55220276-C-G |
c.666C>G |
p.R222= |
Synonymous |
6/28 |
- |
2 |
7-55220276-C-T |
c.666C>T |
p.R222= |
Synonymous |
6/28 |
- |
2 |
7-55220276-GC-G |
c.666del |
p.C223Afs*57 |
Frameshift |
6/28 |
- |
1 |
7-55220277-T-C |
c.667T>C |
p.C223R |
Missense |
6/28 |
- |
2 |
7-55220277-TGC-GAG |
c.667_669delinsGAG |
p.C223E |
Missense |
6/28 |
- |
2 |
7-55220278-G-A |
c.668G>A |
p.C223Y |
Missense |
6/28 |
- |
8 |
7-55220279-C-T |
c.669C>T |
p.C223= |
Synonymous |
6/28 |
- |
1 |
7-55220280-C-A |
c.670C>A |
p.R224S |
Missense |
6/28 |
- |
2 |
7-55220280-CG-AT |
c.670_671delinsAT |
p.R224I |
Missense |
6/28 |
- |
1 |
7-55220280-CGT-TGG |
c.670_672delinsTGG |
p.R224W |
Missense |
6/28 |
- |
2 |
7-55220280-C-T |
c.670C>T |
p.R224C |
Missense |
6/28 |
- |
9 |
7-55220281-G-A |
c.671G>A |
p.R224H |
Missense |
6/28 |
- |
15 |
7-55220281-G-C |
c.671G>C |
p.R224P |
Missense |
6/28 |
- |
1 |
7-55220281-GT-AA |
c.671_672delinsAA |
p.R224Q |
Missense |
6/28 |
- |
3 |
7-55220280-CGT-C |
c.672_673del |
p.G225Qfs*5 |
Frameshift |
6/28 |
- |
2 |
7-55220283-G-A |
c.673G>A |
p.G225S |
Missense |
6/28 |
- |
1 |
7-55220283-G-C |
c.673G>C |
p.G225R |
Missense |
6/28 |
- |
2 |
7-55220283-G-T |
c.673G>T |
p.G225C |
Missense |
6/28 |
- |
3 |
7-55220282-TG-T |
c.674del |
p.G225Afs*55 |
Frameshift |
6/28 |
- |
2 |
7-55220284-G-A |
c.674G>A |
p.G225D |
Missense |
6/28 |
- |
4 |
7-55220284-G-C |
c.674G>C |
p.G225A |
Missense |
6/28 |
- |
1 |
7-55220284-G-T |
c.674G>T |
p.G225V |
Missense |
6/28 |
- |
2 |
7-55220285-C-A |
c.675C>A |
p.G225= |
Synonymous |
6/28 |
- |
1 |
7-55220286-A-G |
c.676A>G |
p.K226E |
Missense |
6/28 |
- |
1 |
7-55220287-A-T |
c.677A>T |
p.K226M |
Missense |
6/28 |
- |
1 |
7-55220288-G-C |
c.678G>C |
p.K226N |
Missense |
6/28 |
- |
1 |
7-55220288-G-T |
c.678G>T |
p.K226N |
Missense |
6/28 |
- |
1 |
7-55220289-T-C |
c.679T>C |
p.S227P |
Missense |
6/28 |
- |
1 |
7-55220289-T-G |
c.679T>G |
p.S227A |
Missense |
6/28 |
- |
1 |
7-55220290-C-A |
c.680C>A |
p.S227Y |
Missense |
6/28 |
- |
2 |
7-55220290-CC-AA |
c.680_681delinsAA |
p.S227* |
Nonsense |
6/28 |
- |
1 |
7-55220290-C-T |
c.680C>T |
p.S227F |
Missense |
6/28 |
- |
13 |
7-55220291-C-A |
c.681C>A |
p.S227= |
Synonymous |
6/28 |
- |
2 |
7-55220291-C-G |
c.681C>G |
p.S227= |
Synonymous |
6/28 |
- |
1 |
7-55220291-C-T |
c.681C>T |
p.S227= |
Synonymous |
6/28 |
- |
1 |
7-55220292-CCC-GAG |
c.682_684delinsGAG |
p.P228E |
Missense |
6/28 |
- |
1 |
7-55220292-C-G |
c.682C>G |
p.P228A |
Missense |
6/28 |
- |
2 |
7-55220292-C-T |
c.682C>T |
p.P228S |
Missense |
6/28 |
- |
5 |
7-55220293-C-A |
c.683C>A |
p.P228H |
Missense |
6/28 |
- |
3 |
7-55220293-C-G |
c.683C>G |
p.P228R |
Missense |
6/28 |
- |
1 |
7-55220293-C-T |
c.683C>T |
p.P228L |
Missense |
6/28 |
- |
7 |
7-55220294-C-A |
c.684C>A |
p.P228= |
Synonymous |
6/28 |
- |
1 |
7-55220294-C-G |
c.684C>G |
p.P228= |
Synonymous |
6/28 |
- |
1 |
7-55220294-C-T |
c.684C>T |
p.P228= |
Synonymous |
6/28 |
- |
2 |
7-55220295-A-G |
c.685A>G |
p.S229G |
Missense |
6/28 |
- |
1 |
7-55220295-AG-CC |
c.685_686delinsCC |
p.S229P |
Missense |
6/28 |
- |
3 |
7-55220295-AG-GA |
c.685_686delinsGA |
p.S229D |
Missense |
6/28 |
- |
2 |
7-55220295-AG-GC |
c.685_686delinsGC |
p.S229A |
Missense |
6/28 |
- |
2 |
7-55220295-AG-TA |
c.685_686delinsTA |
p.S229Y |
Missense |
6/28 |
- |
1 |
7-55220295-AGT-GAG |
c.685_687delinsGAG |
p.S229E |
Missense |
6/28 |
- |
1 |
7-55220295-AG-TT |
c.685_686delinsTT |
p.S229F |
Missense |
6/28 |
- |
1 |
7-55220295-AGT-TGA |
c.685_687delinsTGA |
p.S229* |
Nonsense |
6/28 |
- |
1 |
7-55220295-A-T |
c.685A>T |
p.S229C |
Missense |
6/28 |
- |
25 |
7-55220296-G-A |
c.686G>A |
p.S229N |
Missense |
6/28 |
- |
4 |
7-55220296-G-C |
c.686G>C |
p.S229T |
Missense |
6/28 |
- |
1 |
7-55220295-AGT-A |
c.687_688del |
p.S229Rfs*69 |
Frameshift |
6/28 |
- |
1 |
7-55220297-T-A |
c.687T>A |
p.S229R |
Missense |
6/28 |
- |
1 |
7-55220298-G-A |
c.688G>A |
p.D230N |
Missense |
6/28 |
- |
1 |
7-55220299-A-C |
c.689A>C |
p.D230A |
Missense |
6/28 |
- |
2 |
7-55220299-A-G |
c.689A>G |
p.D230G |
Missense |
6/28 |
- |
1 |
7-55220300-C-A |
c.690C>A |
p.D230E |
Missense |
6/28 |
- |
1 |
7-55220300-C-T |
c.690C>T |
p.D230= |
Synonymous |
6/28 |
- |
1 |
7-55220301-T-A |
c.691T>A |
p.C231S |
Missense |
6/28 |
- |
2 |
7-55220301-T-G |
c.691T>G |
p.C231G |
Missense |
6/28 |
- |
1 |
7-55220302-G-A |
c.692G>A |
p.C231Y |
Missense |
6/28 |
- |
4 |
7-55220302-G-C |
c.692G>C |
p.C231S |
Missense |
6/28 |
- |
7 |
7-55220302-G-T |
c.692G>T |
p.C231F |
Missense |
6/28 |
- |
1 |
7-55220303-C-A |
c.693C>A |
p.C231* |
Nonsense |
6/28 |
- |
1 |
7-55220303-C-T |
c.693C>T |
p.C231= |
Synonymous |
6/28 |
- |
1 |
7-55220304-T-C |
c.694T>C |
p.C232R |
Missense |
6/28 |
- |
1 |
7-55220304-TG-GC |
c.694_695delinsGC |
p.C232A |
Missense |
6/28 |
- |
1 |
7-55220305-G-T |
c.695G>T |
p.C232F |
Missense |
6/28 |
- |
1 |
7-55220306-C-T |
c.696C>T |
p.C232= |
Synonymous |
6/28 |
- |
1 |
7-55220307-C-A |
c.697C>A |
p.H233N |
Missense |
6/28 |
- |
1 |
7-55220307-CAC-ATG |
c.697_699delinsATG |
p.H233M |
Missense |
6/28 |
- |
1 |
7-55220307-CCACAACCAGTGTGCT-C |
c.697_711del |
p.H233_A237del |
InFrameDeletion |
6/28 |
- |
1 |
7-55220307-C-T |
c.697C>T |
p.H233Y |
Missense |
6/28 |
- |
1 |
7-55220308-A-C |
c.698A>C |
p.H233P |
Missense |
6/28 |
- |
2 |
7-55220308-A-G |
c.698A>G |
p.H233R |
Missense |
6/28 |
- |
1 |
7-55220310-A-G |
c.700A>G |
p.N234D |
Missense |
6/28 |
- |
3 |
7-55220311-A-C |
c.701A>C |
p.N234T |
Missense |
6/28 |
- |
1 |
7-55220311-A-G |
c.701A>G |
p.N234S |
Missense |
6/28 |
- |
6 |
7-55220313-CAG-GAC |
c.703_705delinsGAC |
p.Q235D |
Missense |
6/28 |
- |
1 |
7-55220313-C-CG |
c.703_704insG |
p.Q235Rfs*64 |
Frameshift |
6/28 |
- |
1 |
7-55220313-C-CGT |
c.703_704insGT |
p.Q235Rfs*46 |
Frameshift |
6/28 |
- |
1 |
7-55220313-C-G |
c.703C>G |
p.Q235E |
Missense |
6/28 |
- |
1 |
7-55220314-A-G |
c.704A>G |
p.Q235R |
Missense |
6/28 |
- |
2 |
7-55220316-T-C |
c.706T>C |
p.C236R |
Missense |
6/28 |
- |
3 |
7-55220316-TG-GC |
c.706_707delinsGC |
p.C236A |
Missense |
6/28 |
- |
1 |
7-55220317-G-C |
c.707G>C |
p.C236S |
Missense |
6/28 |
- |
1 |
7-55220317-G-T |
c.707G>T |
p.C236F |
Missense |
6/28 |
- |
3 |
7-55220318-T-A |
c.708T>A |
p.C236* |
Nonsense |
6/28 |
- |
1 |
7-55220318-T-G |
c.708T>G |
p.C236W |
Missense |
6/28 |
- |
1 |
7-55220319-G-A |
c.709G>A |
p.A237T |
Missense |
6/28 |
- |
3 |
7-55220319-GC-AA |
c.709_710delinsAA |
p.A237N |
Missense |
6/28 |
- |
1 |
7-55220319-GC-TA |
c.709_710delinsTA |
p.A237Y |
Missense |
6/28 |
- |
1 |
7-55220319-GC-TT |
c.709_710delinsTT |
p.A237F |
Missense |
6/28 |
- |
2 |
7-55220319-G-T |
c.709G>T |
p.A237S |
Missense |
6/28 |
- |
1 |
7-55220320-C-A |
c.710C>A |
p.A237D |
Missense |
6/28 |
- |
1 |
7-55220320-C-T |
c.710C>T |
p.A237V |
Missense |
6/28 |
- |
3 |
7-55220322-G-A |
c.712G>A |
p.A238T |
Missense |
6/28 |
- |
1 |
7-55220323-C-T |
c.713C>T |
p.A238V |
Missense |
6/28 |
- |
2 |
7-55220324-A-C |
c.714A>C |
p.A238= |
Synonymous |
6/28 |
- |
2 |
7-55220324-A-G |
c.714A>G |
p.A238= |
Synonymous |
6/28 |
- |
2 |
7-55220324-A-T |
c.714A>T |
p.A238= |
Synonymous |
6/28 |
- |
2 |
7-55220325-G-A |
c.715G>A |
p.G239S |
Missense |
6/28 |
- |
2 |
7-55220325-G-C |
c.715G>C |
p.G239R |
Missense |
6/28 |
- |
1 |
7-55220325-GG-AC |
c.715_716delinsAC |
p.G239T |
Missense |
6/28 |
- |
1 |
7-55220325-GGC-TGA |
c.715_717delinsTGA |
p.G239* |
Nonsense |
6/28 |
- |
1 |
7-55220325-GGC-TGG |
c.715_717delinsTGG |
p.G239W |
Missense |
6/28 |
- |
1 |
7-55220325-G-T |
c.715G>T |
p.G239C |
Missense |
6/28 |
- |
3 |
7-55220326-G-A |
c.716G>A |
p.G239D |
Missense |
6/28 |
- |
3 |
7-55220326-G-C |
c.716G>C |
p.G239A |
Missense |
6/28 |
- |
11 |
7-55220326-GC-AG |
c.716_717delinsAG |
p.G239E |
Missense |
6/28 |
- |
1 |
7-55220326-G-T |
c.716G>T |
p.G239V |
Missense |
6/28 |
- |
1 |
7-55220327-C-A |
c.717C>A |
p.G239= |
Synonymous |
6/28 |
- |
1 |
7-55220327-C-G |
c.717C>G |
p.G239= |
Synonymous |
6/28 |
- |
1 |
7-55220327-C-T |
c.717C>T |
p.G239= |
Synonymous |
6/28 |
- |
1 |
7-55220328-T-C |
c.718T>C |
p.C240R |
Missense |
6/28 |
- |
2 |
7-55220329-G-A |
c.719G>A |
p.C240Y |
Missense |
6/28 |
- |
8 |
7-55220330-C-A |
c.720C>A |
p.C240* |
Nonsense |
6/28 |
- |
1 |
7-55220330-C-T |
c.720C>T |
p.C240= |
Synonymous |
6/28 |
- |
1 |
7-55220330-C-CAGT |
c.721_722insGTA |
p.C240_T241insS |
InFrameInsertion |
6/28 |
- |
1 |
7-55220331-A-C |
c.721A>C |
p.T241P |
Missense |
6/28 |
- |
2 |
7-55220332-CA-TG |
c.722_723inv |
p.T241M |
Missense |
6/28 |
- |
3 |
7-55220332-C-T |
c.722C>T |
p.T241I |
Missense |
6/28 |
- |
6 |
7-55220333-A-C |
c.723A>C |
p.T241= |
Synonymous |
6/28 |
- |
1 |
7-55220333-A-G |
c.723A>G |
p.T241= |
Synonymous |
6/28 |
- |
2 |
7-55220333-A-T |
c.723A>T |
p.T241= |
Synonymous |
6/28 |
- |
1 |
7-55220333-CA-C |
c.723del |
p.G242Afs*38 |
Frameshift |
6/28 |
- |
1 |
7-55220334-G-A |
c.724G>A |
p.G242S |
Missense |
6/28 |
- |
2 |
7-55220334-G-T |
c.724G>T |
p.G242C |
Missense |
6/28 |
- |
1 |
7-55220335-G-A |
c.725G>A |
p.G242D |
Missense |
6/28 |
- |
3 |
7-55220335-G-T |
c.725G>T |
p.G242V |
Missense |
6/28 |
- |
1 |
7-55220336-C-G |
c.726C>G |
p.G242= |
Synonymous |
6/28 |
- |
1 |
7-55220336-C-T |
c.726C>T |
p.G242= |
Synonymous |
6/28 |
- |
1 |
7-55220337-C-A |
c.727C>A |
p.P243T |
Missense |
6/28 |
- |
1 |
7-55220337-C-CGT |
c.727_728insGT |
p.P243Rfs*38 |
Frameshift |
6/28 |
- |
1 |
7-55220337-C-G |
c.727C>G |
p.P243A |
Missense |
6/28 |
- |
1 |
7-55220337-C-T |
c.727C>T |
p.P243S |
Missense |
6/28 |
- |
2 |
7-55220338-C-A |
c.728C>A |
p.P243H |
Missense |
6/28 |
- |
1 |
7-55220338-C-G |
c.728C>G |
p.P243R |
Missense |
6/28 |
- |
1 |
7-55220338-C-T |
c.728C>T |
p.P243L |
Missense |
6/28 |
- |
1 |
7-55220339-C-A |
c.729C>A |
p.P243= |
Synonymous |
6/28 |
- |
1 |
7-55220339-C-G |
c.729C>G |
p.P243= |
Synonymous |
6/28 |
- |
1 |
7-55220339-C-T |
c.729C>T |
p.P243= |
Synonymous |
6/28 |
- |
2 |
7-55220335-GC-G |
c.730del |
p.R244Gfs*36 |
Frameshift |
6/28 |
- |
2 |
7-55220340-C-G |
c.730C>G |
p.R244G |
Missense |
6/28 |
- |
4 |
7-55220340-CG-AC |
c.730_731delinsAC |
p.R244T |
Missense |
6/28 |
- |
1 |
7-55220340-CGG-AGC |
c.730_732delinsAGC |
p.R244S |
Missense |
6/28 |
- |
4 |
7-55220340-CG-GC |
c.730_731delinsGC |
p.R244A |
Missense |
6/28 |
- |
1 |
7-55220340-CGG-TGT |
c.730_732delinsTGT |
p.R244C |
Missense |
6/28 |
- |
4 |
7-55220340-C-T |
c.730C>T |
p.R244W |
Missense |
6/28 |
- |
7 |
7-55220341-G-A |
c.731G>A |
p.R244Q |
Missense |
6/28 |
- |
6 |
7-55220341-GG-AT |
c.731_732delinsAT |
p.R244H |
Missense |
6/28 |
- |
4 |
7-55220342-G-A |
c.732G>A |
p.R244= |
Synonymous |
6/28 |
- |
1 |
7-55220343-G-A |
c.733G>A |
p.E245K |
Missense |
6/28 |
- |
4 |
7-55220343-G-C |
c.733G>C |
p.E245Q |
Missense |
6/28 |
- |
1 |
7-55220343-G-T |
c.733G>T |
p.E245* |
Nonsense |
6/28 |
- |
1 |
7-55220344-A-C |
c.734A>C |
p.E245A |
Missense |
6/28 |
- |
1 |
7-55220344-A-G |
c.734A>G |
p.E245G |
Missense |
6/28 |
- |
3 |
7-55220344-A-T |
c.734A>T |
p.E245V |
Missense |
6/28 |
- |
2 |
7-55220345-G-GT |
c.735_736insT |
p.S246* |
Nonsense |
6/28 |
- |
1 |
7-55220346-A-G |
c.736A>G |
p.S246G |
Missense |
6/28 |
- |
1 |
7-55220346-AG-GC |
c.736_737delinsGC |
p.S246A |
Missense |
6/28 |
- |
1 |
7-55220346-AG-TT |
c.736_737delinsTT |
p.S246F |
Missense |
6/28 |
- |
1 |
7-55220347-G-A |
c.737G>A |
p.S246N |
Missense |
6/28 |
- |
2 |
7-55220346-A-C |
c.736A>C |
p.S246R |
Missense |
6/28 |
- |
1 |
7-55220348-C-A |
c.738C>A |
p.S246R |
Missense |
6/28 |
- |
4 |
7-55220348-C-G |
c.738C>G |
p.S246R |
Missense |
6/28 |
- |
1 |
7-55220348-C-T |
c.738C>T |
p.S246= |
Synonymous |
6/28 |
- |
8 |
7-55220349-G-A |
c.739G>A |
p.D247N |
Missense |
6/28 |
- |
8 |
7-55220349-G-C |
c.739G>C |
p.D247H |
Missense |
6/28 |
- |
2 |
7-55220349-G-T |
c.739G>T |
p.D247Y |
Missense |
6/28 |
- |
5 |
7-55220350-A-G |
c.740A>G |
p.D247G |
Missense |
6/28 |
- |
1 |
7-55220350-GACTGCC-G |
c.740_745del |
p.D247_L249delinsV |
MultiAAMissense |
6/28 |
- |
1 |
7-55220351-C-A |
c.741C>A |
p.D247E |
Missense |
6/28 |
- |
1 |
7-55220351-C-G |
c.741C>G |
p.D247E |
Missense |
6/28 |
- |
1 |
7-55220353-G-A |
c.743G>A |
p.C248Y |
Missense |
6/28 |
- |
4 |
7-55220353-G-T |
c.743G>T |
p.C248F |
Missense |
6/28 |
- |
2 |
7-55220353-GC-G |
c.745del |
p.L249Wfs*31 |
Frameshift |
6/28 |
- |
1 |
7-55220355-C-G |
c.745C>G |
p.L249V |
Missense |
6/28 |
- |
1 |
7-55220355-CTG-ATC |
c.745_747delinsATC |
p.L249I |
Missense |
6/28 |
- |
1 |
7-55220355-CTG-TTT |
c.745_747delinsTTT |
p.L249F |
Missense |
6/28 |
- |
1 |
7-55220356-T-A |
c.746T>A |
p.L249Q |
Missense |
6/28 |
- |
1 |
7-55220356-T-C |
c.746T>C |
p.L249P |
Missense |
6/28 |
- |
4 |
7-55220355-C-T |
c.745C>T |
p.L249= |
Synonymous |
6/28 |
- |
1 |
7-55220357-G-A |
c.747G>A |
p.L249= |
Synonymous |
6/28 |
- |
2 |
7-55220357-G-C |
c.747G>C |
p.L249= |
Synonymous |
6/28 |
- |
1 |
7-55220357-G-T |
c.747G>T |
p.L249= |
Synonymous |
6/28 |
- |
3 |
7-55220358-G-T |
c.747+1G>T |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55220359-T-A |
c.747+2T>A |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55220369-C-T |
c.747+12C>T |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55220370-T-C |
c.747+13T>C |
- |
IntronicSNV |
- |
6/27 |
2 |
7-55220526-C-T |
c.747+169C>T |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55220652-T-C |
c.747+295T>C |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55220812-A-T |
c.747+455A>T |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55220905-C-T |
c.747+548C>T |
- |
IntronicSNV |
- |
6/27 |
4 |
7-55220934-G-A |
c.747+577G>A |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55220934-G-T |
c.747+577G>T |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55221167-A-G |
c.748-537A>G |
- |
IntronicSNV |
- |
6/27 |
2 |
7-55221447-C-G |
c.748-257C>G |
- |
IntronicSNV |
- |
6/27 |
6 |
7-55221451-C-G |
c.748-253C>G |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55221451-C-T |
c.748-253C>T |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55221469-C-T |
c.748-235C>T |
- |
IntronicSNV |
- |
6/27 |
2 |
7-55221511-G-T |
c.748-193G>T |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55221629-C-T |
c.748-75C>T |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55221655-G-A |
c.748-49G>A |
- |
IntronicSNV |
- |
6/27 |
21 |
7-55221700-A-G |
c.748-4A>G |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55221701-T-C |
c.748-3T>C |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55221703-G-C |
c.748-1G>C |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55221704-G-A |
c.748G>A |
p.V250I |
Missense |
7/28 |
- |
3 |
7-55221704-G-C |
c.748G>C |
p.V250L |
Missense |
7/28 |
- |
1 |
7-55221708-G-A |
c.752G>A |
p.C251Y |
Missense |
7/28 |
- |
5 |
7-55221708-G-T |
c.752G>T |
p.C251F |
Missense |
7/28 |
- |
2 |
7-55221709-C-T |
c.753C>T |
p.C251= |
Synonymous |
7/28 |
- |
1 |
7-55221708-GC-G |
c.754del |
p.R252Afs*28 |
Frameshift |
7/28 |
- |
1 |
7-55221710-C-A |
c.754C>A |
p.R252S |
Missense |
7/28 |
- |
1 |
7-55221710-C-G |
c.754C>G |
p.R252G |
Missense |
7/28 |
- |
3 |
7-55221710-CG-AT |
c.754_755delinsAT |
p.R252I |
Missense |
7/28 |
- |
1 |
7-55221710-CGC-AAG |
c.754_756delinsAAG |
p.R252K |
Missense |
7/28 |
- |
1 |
7-55221710-CGC-TGG |
c.754_756delinsTGG |
p.R252W |
Missense |
7/28 |
- |
1 |
7-55221710-CG-GA |
c.754_755delinsGA |
p.R252D |
Missense |
7/28 |
- |
1 |
7-55221710-C-T |
c.754C>T |
p.R252C |
Missense |
7/28 |
- |
42 |
7-55221711-G-A |
c.755G>A |
p.R252H |
Missense |
7/28 |
- |
21 |
7-55221711-G-C |
c.755G>C |
p.R252P |
Missense |
7/28 |
- |
18 |
7-55221711-GC-AA |
c.755_756delinsAA |
p.R252Q |
Missense |
7/28 |
- |
2 |
7-55221711-G-T |
c.755G>T |
p.R252L |
Missense |
7/28 |
- |
1 |
7-55221713-AA-GC |
c.757_758delinsGC |
p.K253A |
Missense |
7/28 |
- |
1 |
7-55221713-A-G |
c.757A>G |
p.K253E |
Missense |
7/28 |
- |
1 |
7-55221713-A-T |
c.757A>T |
p.K253* |
Nonsense |
7/28 |
- |
2 |
7-55221714-A-G |
c.758A>G |
p.K253R |
Missense |
7/28 |
- |
8 |
7-55221712-C-CA |
c.759dup |
p.F254Ifs*45 |
Frameshift |
7/28 |
- |
1 |
7-55221715-A-C |
c.759A>C |
p.K253N |
Missense |
7/28 |
- |
2 |
7-55221715-A-T |
c.759A>T |
p.K253N |
Missense |
7/28 |
- |
2 |
7-55221716-T-A |
c.760T>A |
p.F254I |
Missense |
7/28 |
- |
20 |
7-55221716-T-C |
c.760T>C |
p.F254L |
Missense |
7/28 |
- |
1 |
7-55221718-C-A |
c.762C>A |
p.F254L |
Missense |
7/28 |
- |
1 |
7-55221718-C-G |
c.762C>G |
p.F254L |
Missense |
7/28 |
- |
1 |
7-55221717-T-A |
c.761T>A |
p.F254Y |
Missense |
7/28 |
- |
1 |
7-55221717-T-C |
c.761T>C |
p.F254S |
Missense |
7/28 |
- |
8 |
7-55221718-C-T |
c.762C>T |
p.F254= |
Synonymous |
7/28 |
- |
5 |
7-55221719-C-A |
c.763C>A |
p.R255= |
Synonymous |
7/28 |
- |
1 |
7-55221719-CGA-AGC |
c.763_765delinsAGC |
p.R255S |
Missense |
7/28 |
- |
1 |
7-55221719-CG-AT |
c.763_764delinsAT |
p.R255I |
Missense |
7/28 |
- |
1 |
7-55221719-CGA-TGG |
c.763_765delinsTGG |
p.R255W |
Missense |
7/28 |
- |
1 |
7-55221719-CGA-TGT |
c.763_765delinsTGT |
p.R255C |
Missense |
7/28 |
- |
1 |
7-55221719-C-T |
c.763C>T |
p.R255* |
Nonsense |
7/28 |
- |
13 |
7-55221720-G-A |
c.764G>A |
p.R255Q |
Missense |
7/28 |
- |
15 |
7-55221720-GA-AT |
c.764_765delinsAT |
p.R255H |
Missense |
7/28 |
- |
1 |
7-55221720-G-T |
c.764G>T |
p.R255L |
Missense |
7/28 |
- |
3 |
7-55221722-G-A |
c.766G>A |
p.D256N |
Missense |
7/28 |
- |
2 |
7-55221722-G-T |
c.766G>T |
p.D256Y |
Missense |
7/28 |
- |
16 |
7-55221723-A-C |
c.767A>C |
p.D256A |
Missense |
7/28 |
- |
2 |
7-55221723-A-G |
c.767A>G |
p.D256G |
Missense |
7/28 |
- |
14 |
7-55221723-A-T |
c.767A>T |
p.D256V |
Missense |
7/28 |
- |
3 |
7-55221724-C-A |
c.768C>A |
p.D256E |
Missense |
7/28 |
- |
1 |
7-55221724-C-G |
c.768C>G |
p.D256E |
Missense |
7/28 |
- |
1 |
7-55221724-C-T |
c.768C>T |
p.D256= |
Synonymous |
7/28 |
- |
3 |
7-55221725-G-A |
c.769G>A |
p.E257K |
Missense |
7/28 |
- |
19 |
7-55221726-A-C |
c.770A>C |
p.E257A |
Missense |
7/28 |
- |
1 |
7-55221726-A-G |
c.770A>G |
p.E257G |
Missense |
7/28 |
- |
1 |
7-55221727-A-T |
c.771A>T |
p.E257D |
Missense |
7/28 |
- |
1 |
7-55221728-G-A |
c.772G>A |
p.A258T |
Missense |
7/28 |
- |
1 |
7-55221728-G-C |
c.772G>C |
p.A258P |
Missense |
7/28 |
- |
3 |
7-55221728-G-T |
c.772G>T |
p.A258S |
Missense |
7/28 |
- |
1 |
7-55221729-C-T |
c.773C>T |
p.A258V |
Missense |
7/28 |
- |
2 |
7-55221730-C-T |
c.774C>T |
p.A258= |
Synonymous |
7/28 |
- |
3 |
7-55221731-A-C |
c.775A>C |
p.T259P |
Missense |
7/28 |
- |
1 |
7-55221731-A-G |
c.775A>G |
p.T259A |
Missense |
7/28 |
- |
3 |
7-55221731-A-T |
c.775A>T |
p.T259S |
Missense |
7/28 |
- |
3 |
7-55221732-CG-TC |
c.776_777delinsTC |
p.T259I |
Missense |
7/28 |
- |
2 |
7-55221732-C-T |
c.776C>T |
p.T259M |
Missense |
7/28 |
- |
15 |
7-55221733-G-A |
c.777G>A |
p.T259= |
Synonymous |
7/28 |
- |
8 |
7-55221733-G-C |
c.777G>C |
p.T259= |
Synonymous |
7/28 |
- |
9 |
7-55221733-G-T |
c.777G>T |
p.T259= |
Synonymous |
7/28 |
- |
6 |
7-55221734-TG-CA |
c.778_779inv |
p.C260H |
Missense |
7/28 |
- |
1 |
7-55221735-G-A |
c.779G>A |
p.C260Y |
Missense |
7/28 |
- |
5 |
7-55221735-G-GGGAA |
c.779_780insGGAA |
p.C260Wfs*40 |
Frameshift |
7/28 |
- |
1 |
7-55221735-G-T |
c.779G>T |
p.C260F |
Missense |
7/28 |
- |
2 |
7-55221736-C-A |
c.780C>A |
p.C260* |
Nonsense |
7/28 |
- |
3 |
7-55221738-A-G |
c.782A>G |
p.K261R |
Missense |
7/28 |
- |
1 |
7-55221739-G-A |
c.783G>A |
p.K261= |
Synonymous |
7/28 |
- |
2 |
7-55221739-G-C |
c.783G>C |
p.K261N |
Missense |
7/28 |
- |
8 |
7-55221739-G-T |
c.783G>T |
p.K261N |
Missense |
7/28 |
- |
11 |
7-55221740-G-A |
c.784G>A |
p.D262N |
Missense |
7/28 |
- |
2 |
7-55221740-G-T |
c.784G>T |
p.D262Y |
Missense |
7/28 |
- |
2 |
7-55221741-A-C |
c.785A>C |
p.D262A |
Missense |
7/28 |
- |
4 |
7-55221742-C-A |
c.786C>A |
p.D262E |
Missense |
7/28 |
- |
1 |
7-55221742-C-T |
c.786C>T |
p.D262= |
Synonymous |
7/28 |
- |
1 |
7-55221741-ACAC-A |
c.787_789del |
p.T263del |
InFrameDeletion |
7/28 |
- |
1 |
7-55221743-A-C |
c.787A>C |
p.T263P |
Missense |
7/28 |
- |
76 |
7-55221743-ACC-CAA |
c.787_789delinsCAA |
p.T263Q |
Missense |
7/28 |
- |
1 |
7-55221743-A-G |
c.787A>G |
p.T263A |
Missense |
7/28 |
- |
4 |
7-55221744-C-T |
c.788C>T |
p.T263I |
Missense |
7/28 |
- |
8 |
7-55221745-C-T |
c.789C>T |
p.T263= |
Synonymous |
7/28 |
- |
2 |
7-55221746-TG-AT |
c.790_791delinsAT |
p.C264I |
Missense |
7/28 |
- |
1 |
7-55221746-TG-GC |
c.790_791delinsGC |
p.C264A |
Missense |
7/28 |
- |
1 |
7-55221747-G-A |
c.791G>A |
p.C264Y |
Missense |
7/28 |
- |
7 |
7-55221748-C-A |
c.792C>A |
p.C264* |
Nonsense |
7/28 |
- |
1 |
7-55221749-C-A |
c.793C>A |
p.P265T |
Missense |
7/28 |
- |
1 |
7-55221749-C-G |
c.793C>G |
p.P265A |
Missense |
7/28 |
- |
1 |
7-55221749-C-T |
c.793C>T |
p.P265S |
Missense |
7/28 |
- |
1 |
7-55221750-C-A |
c.794C>A |
p.P265H |
Missense |
7/28 |
- |
3 |
7-55221750-C-G |
c.794C>G |
p.P265R |
Missense |
7/28 |
- |
2 |
7-55221750-C-T |
c.794C>T |
p.P265L |
Missense |
7/28 |
- |
4 |
7-55221751-C-A |
c.795C>A |
p.P265= |
Synonymous |
7/28 |
- |
1 |
7-55221752-C-T |
c.796C>T |
p.P266S |
Missense |
7/28 |
- |
1 |
7-55221747-GC-G |
c.797del |
p.P266Hfs*14 |
Frameshift |
7/28 |
- |
1 |
7-55221747-G-GC |
c.797dup |
p.L267Tfs*32 |
Frameshift |
7/28 |
- |
1 |
7-55221753-C-A |
c.797C>A |
p.P266Q |
Missense |
7/28 |
- |
8 |
7-55221753-C-G |
c.797C>G |
p.P266R |
Missense |
7/28 |
- |
6 |
7-55221753-C-T |
c.797C>T |
p.P266L |
Missense |
7/28 |
- |
5 |
7-55221754-A-C |
c.798A>C |
p.P266= |
Synonymous |
7/28 |
- |
2 |
7-55221754-A-G |
c.798A>G |
p.P266= |
Synonymous |
7/28 |
- |
2 |
7-55221754-A-T |
c.798A>T |
p.P266= |
Synonymous |
7/28 |
- |
2 |
7-55221755-C-G |
c.799C>G |
p.L267V |
Missense |
7/28 |
- |
3 |
7-55221756-T-C |
c.800T>C |
p.L267P |
Missense |
7/28 |
- |
1 |
7-55221756-T-G |
c.800T>G |
p.L267R |
Missense |
7/28 |
- |
2 |
7-55221758-A-G |
c.802A>G |
p.M268V |
Missense |
7/28 |
- |
2 |
7-55221759-T-A |
c.803T>A |
p.M268K |
Missense |
7/28 |
- |
1 |
7-55221759-T-C |
c.803T>C |
p.M268T |
Missense |
7/28 |
- |
3 |
7-55221761-C-A |
c.805C>A |
p.L269I |
Missense |
7/28 |
- |
2 |
7-55221761-C-T |
c.805C>T |
p.L269F |
Missense |
7/28 |
- |
1 |
7-55221761-CTC-ATG |
c.805_807delinsATG |
p.L269M |
Missense |
7/28 |
- |
1 |
7-55221761-CT-GC |
c.805_806delinsGC |
p.L269A |
Missense |
7/28 |
- |
1 |
7-55221762-T-C |
c.806T>C |
p.L269P |
Missense |
7/28 |
- |
1 |
7-55221763-C-A |
c.807C>A |
p.L269= |
Synonymous |
7/28 |
- |
3 |
7-55221763-C-G |
c.807C>G |
p.L269= |
Synonymous |
7/28 |
- |
3 |
7-55221763-C-T |
c.807C>T |
p.L269= |
Synonymous |
7/28 |
- |
5 |
7-55221764-T-C |
c.808T>C |
p.Y270H |
Missense |
7/28 |
- |
1 |
7-55221764-T-G |
c.808T>G |
p.Y270D |
Missense |
7/28 |
- |
1 |
7-55221765-A-G |
c.809A>G |
p.Y270C |
Missense |
7/28 |
- |
12 |
7-55221766-C-A |
c.810C>A |
p.Y270* |
Nonsense |
7/28 |
- |
3 |
7-55221766-C-G |
c.810C>G |
p.Y270* |
Nonsense |
7/28 |
- |
1 |
7-55221768-A-G |
c.812A>G |
p.N271S |
Missense |
7/28 |
- |
2 |
7-55221768-A-T |
c.812A>T |
p.N271I |
Missense |
7/28 |
- |
1 |
7-55221769-C-A |
c.813C>A |
p.N271K |
Missense |
7/28 |
- |
3 |
7-55221769-C-G |
c.813C>G |
p.N271K |
Missense |
7/28 |
- |
3 |
7-55221769-C-T |
c.813C>T |
p.N271= |
Synonymous |
7/28 |
- |
2 |
7-55221770-C-T |
c.814C>T |
p.P272S |
Missense |
7/28 |
- |
2 |
7-55221771-C-A |
c.815C>A |
p.P272H |
Missense |
7/28 |
- |
3 |
7-55221771-C-T |
c.815C>T |
p.P272L |
Missense |
7/28 |
- |
8 |
7-55221769-CCCCA-C |
c.816_819del |
p.T273Rfs*6 |
Frameshift |
7/28 |
- |
1 |
7-55221772-C-A |
c.816C>A |
p.P272= |
Synonymous |
7/28 |
- |
1 |
7-55221773-A-C |
c.817A>C |
p.T273P |
Missense |
7/28 |
- |
1 |
7-55221773-AC-CA |
c.817_818delinsCA |
p.T273H |
Missense |
7/28 |
- |
1 |
7-55221773-ACC-TAA |
c.817_819delinsTAA |
p.T273* |
Nonsense |
7/28 |
- |
1 |
7-55221773-A-G |
c.817A>G |
p.T273A |
Missense |
7/28 |
- |
11 |
7-55221773-CA-C |
c.817del |
p.T273Pfs*7 |
Frameshift |
7/28 |
- |
1 |
7-55221773-A-T |
c.817A>T |
p.T273S |
Missense |
7/28 |
- |
3 |
7-55221774-C-A |
c.818C>A |
p.T273N |
Missense |
7/28 |
- |
2 |
7-55221774-C-G |
c.818C>G |
p.T273S |
Missense |
7/28 |
- |
3 |
7-55221774-C-T |
c.818C>T |
p.T273I |
Missense |
7/28 |
- |
3 |
7-55221775-C-A |
c.819C>A |
p.T273= |
Synonymous |
7/28 |
- |
1 |
7-55221775-C-G |
c.819C>G |
p.T273= |
Synonymous |
7/28 |
- |
1 |
7-55221775-C-T |
c.819C>T |
p.T273= |
Synonymous |
7/28 |
- |
1 |
7-55221776-A-G |
c.820A>G |
p.T274A |
Missense |
7/28 |
- |
3 |
7-55221777-C-A |
c.821C>A |
p.T274K |
Missense |
7/28 |
- |
2 |
7-55221777-CG-TC |
c.821_822delinsTC |
p.T274I |
Missense |
7/28 |
- |
3 |
7-55221777-C-T |
c.821C>T |
p.T274M |
Missense |
7/28 |
- |
7 |
7-55221778-G-A |
c.822G>A |
p.T274= |
Synonymous |
7/28 |
- |
3 |
7-55221779-T-G |
c.823T>G |
p.Y275D |
Missense |
7/28 |
- |
1 |
7-55221780-A-T |
c.824A>T |
p.Y275F |
Missense |
7/28 |
- |
4 |
7-55221781-C-T |
c.825C>T |
p.Y275= |
Synonymous |
7/28 |
- |
4 |
7-55221782-C-A |
c.826C>A |
p.Q276K |
Missense |
7/28 |
- |
1 |
7-55221782-C-T |
c.826C>T |
p.Q276* |
Nonsense |
7/28 |
- |
3 |
7-55221783-A-C |
c.827A>C |
p.Q276P |
Missense |
7/28 |
- |
1 |
7-55221783-A-G |
c.827A>G |
p.Q276R |
Missense |
7/28 |
- |
4 |
7-55221783-A-T |
c.827A>T |
p.Q276L |
Missense |
7/28 |
- |
10 |
7-55221784-G-C |
c.828G>C |
p.Q276H |
Missense |
7/28 |
- |
3 |
7-55221784-G-T |
c.828G>T |
p.Q276H |
Missense |
7/28 |
- |
5 |
7-55221785-A-G |
c.829A>G |
p.M277V |
Missense |
7/28 |
- |
1 |
7-55221785-AT-GA |
c.829_830delinsGA |
p.M277E |
Missense |
7/28 |
- |
10 |
7-55221786-T-C |
c.830T>C |
p.M277T |
Missense |
7/28 |
- |
1 |
7-55221788-G-A |
c.832G>A |
p.D278N |
Missense |
7/28 |
- |
6 |
7-55221788-G-ATCT |
c.832delinsATCT |
p.D278delinsIY |
MultiAAMissense |
7/28 |
- |
1 |
7-55221788-G-C |
c.832G>C |
p.D278H |
Missense |
7/28 |
- |
1 |
7-55221788-G-T |
c.832G>T |
p.D278Y |
Missense |
7/28 |
- |
2 |
7-55221789-A-C |
c.833A>C |
p.D278A |
Missense |
7/28 |
- |
1 |
7-55221789-A-G |
c.833A>G |
p.D278G |
Missense |
7/28 |
- |
3 |
7-55221789-A-T |
c.833A>T |
p.D278V |
Missense |
7/28 |
- |
3 |
7-55221792-T-C |
c.836T>C |
p.V279A |
Missense |
7/28 |
- |
1 |
7-55221792-T-TC |
c.836_837insC |
p.N280Efs*19 |
Frameshift |
7/28 |
- |
1 |
7-55221793-G-A |
c.837G>A |
p.V279= |
Synonymous |
7/28 |
- |
5 |
7-55221793-GA-CG |
c.837_838delinsCG |
p.N280D |
Missense |
7/28 |
- |
1 |
7-55221793-G-C |
c.837G>C |
p.V279= |
Synonymous |
7/28 |
- |
4 |
7-55221793-G-T |
c.837G>T |
p.V279= |
Synonymous |
7/28 |
- |
4 |
7-55221794-A-G |
c.838A>G |
p.N280D |
Missense |
7/28 |
- |
1 |
7-55221795-A-C |
c.839A>C |
p.N280T |
Missense |
7/28 |
- |
1 |
7-55221795-A-G |
c.839A>G |
p.N280S |
Missense |
7/28 |
- |
1 |
7-55221796-C-A |
c.840C>A |
p.N280K |
Missense |
7/28 |
- |
2 |
7-55221796-C-G |
c.840C>G |
p.N280K |
Missense |
7/28 |
- |
2 |
7-55221796-C-T |
c.840C>T |
p.N280= |
Synonymous |
7/28 |
- |
2 |
7-55221797-C-A |
c.841C>A |
p.P281T |
Missense |
7/28 |
- |
1 |
7-55221797-C-G |
c.841C>G |
p.P281A |
Missense |
7/28 |
- |
1 |
7-55221797-C-T |
c.841C>T |
p.P281S |
Missense |
7/28 |
- |
3 |
7-55221798-CC-AA |
c.842_843delinsAA |
p.P281Q |
Missense |
7/28 |
- |
1 |
7-55221798-C-G |
c.842C>G |
p.P281R |
Missense |
7/28 |
- |
1 |
7-55221798-C-T |
c.842C>T |
p.P281L |
Missense |
7/28 |
- |
5 |
7-55221799-C-T |
c.843C>T |
p.P281= |
Synonymous |
7/28 |
- |
1 |
7-55221800-G-A |
c.844G>A |
p.E282K |
Missense |
7/28 |
- |
37 |
7-55221800-G-C |
c.844G>C |
p.E282Q |
Missense |
7/28 |
- |
2 |
7-55221800-G-T |
c.844G>T |
p.E282* |
Nonsense |
7/28 |
- |
1 |
7-55221801-A-C |
c.845A>C |
p.E282A |
Missense |
7/28 |
- |
1 |
7-55221801-A-T |
c.845A>T |
p.E282V |
Missense |
7/28 |
- |
2 |
7-55221802-G-C |
c.846G>C |
p.E282D |
Missense |
7/28 |
- |
2 |
7-55221802-G-T |
c.846G>T |
p.E282D |
Missense |
7/28 |
- |
3 |
7-55221803-G-A |
c.847G>A |
p.G283S |
Missense |
7/28 |
- |
2 |
7-55221803-G-T |
c.847G>T |
p.G283C |
Missense |
7/28 |
- |
1 |
7-55221804-G-A |
c.848G>A |
p.G283D |
Missense |
7/28 |
- |
3 |
7-55221804-G-C |
c.848G>C |
p.G283A |
Missense |
7/28 |
- |
2 |
7-55221804-G-T |
c.848G>T |
p.G283V |
Missense |
7/28 |
- |
3 |
7-55221806-A-G |
c.850A>G |
p.K284E |
Missense |
7/28 |
- |
2 |
7-55221808-A-C |
c.852A>C |
p.K284N |
Missense |
7/28 |
- |
1 |
7-55221808-A-G |
c.852A>G |
p.K284= |
Synonymous |
7/28 |
- |
1 |
7-55221808-A-T |
c.852A>T |
p.K284N |
Missense |
7/28 |
- |
1 |
7-55221809-T-A |
c.853T>A |
p.Y285N |
Missense |
7/28 |
- |
1 |
7-55221809-T-C |
c.853T>C |
p.Y285H |
Missense |
7/28 |
- |
2 |
7-55221810-A-G |
c.854A>G |
p.Y285C |
Missense |
7/28 |
- |
6 |
7-55221810-A-T |
c.854A>T |
p.Y285F |
Missense |
7/28 |
- |
1 |
7-55221812-AGC-GAG |
c.856_858delinsGAG |
p.S286E |
Missense |
7/28 |
- |
1 |
7-55221812-AG-CT |
c.856_857inv |
p.S286L |
Missense |
7/28 |
- |
1 |
7-55221812-AGC-TGA |
c.856_858delinsTGA |
p.S286* |
Nonsense |
7/28 |
- |
1 |
7-55221812-A-T |
c.856A>T |
p.S286C |
Missense |
7/28 |
- |
1 |
7-55221813-AG-A |
c.857del |
p.S286Tfs*7 |
Frameshift |
7/28 |
- |
1 |
7-55221813-G-A |
c.857G>A |
p.S286N |
Missense |
7/28 |
- |
1 |
7-55221813-G-T |
c.857G>T |
p.S286I |
Missense |
7/28 |
- |
2 |
7-55221812-A-C |
c.856A>C |
p.S286R |
Missense |
7/28 |
- |
3 |
7-55221814-C-A |
c.858C>A |
p.S286R |
Missense |
7/28 |
- |
3 |
7-55221814-C-G |
c.858C>G |
p.S286R |
Missense |
7/28 |
- |
3 |
7-55221815-T-A |
c.859T>A |
p.F287I |
Missense |
7/28 |
- |
1 |
7-55221815-T-C |
c.859T>C |
p.F287L |
Missense |
7/28 |
- |
3 |
7-55221817-T-A |
c.861T>A |
p.F287L |
Missense |
7/28 |
- |
2 |
7-55221817-T-G |
c.861T>G |
p.F287L |
Missense |
7/28 |
- |
1 |
7-55221816-T-C |
c.860T>C |
p.F287S |
Missense |
7/28 |
- |
1 |
7-55221814-CT-C |
c.861del |
p.F287Lfs*6 |
Frameshift |
7/28 |
- |
1 |
7-55221817-T-C |
c.861T>C |
p.F287= |
Synonymous |
7/28 |
- |
1 |
7-55221817-T-TCATGCA |
c.861_862insCATGCA |
p.F287_G288insHA |
InFrameInsertion |
7/28 |
- |
1 |
7-55221818-G-A |
c.862G>A |
p.G288S |
Missense |
7/28 |
- |
4 |
7-55221818-G-T |
c.862G>T |
p.G288C |
Missense |
7/28 |
- |
3 |
7-55221817-TG-T |
c.863del |
p.G288Vfs*5 |
Frameshift |
7/28 |
- |
1 |
7-55221819-G-A |
c.863G>A |
p.G288D |
Missense |
7/28 |
- |
2 |
7-55221819-G-T |
c.863G>T |
p.G288V |
Missense |
7/28 |
- |
1 |
7-55221820-T-C |
c.864T>C |
p.G288= |
Synonymous |
7/28 |
- |
1 |
7-55221821-G-A |
c.865G>A |
p.A289T |
Missense |
7/28 |
- |
83 |
7-55221821-G-C |
c.865G>C |
p.A289P |
Missense |
7/28 |
- |
2 |
7-55221821-GC-AA |
c.865_866delinsAA |
p.A289N |
Missense |
7/28 |
- |
11 |
7-55221821-GC-AT |
c.865_866delinsAT |
p.A289I |
Missense |
7/28 |
- |
12 |
7-55221821-GCCACC-TGGTGG |
c.865_870delinsTGGTGG |
p.A289_T290delinsWW |
MultiAAMissense |
7/28 |
- |
2 |
7-55221821-GCC-TAA |
c.865_867delinsTAA |
p.A289* |
Nonsense |
7/28 |
- |
3 |
7-55221821-GC-TA |
c.865_866delinsTA |
p.A289Y |
Missense |
7/28 |
- |
2 |
7-55221821-G-T |
c.865G>T |
p.A289S |
Missense |
7/28 |
- |
1 |
7-55221822-C-A |
c.866C>A |
p.A289D |
Missense |
7/28 |
- |
83 |
7-55221822-CC-AG |
c.866_867delinsAG |
p.A289E |
Missense |
7/28 |
- |
1 |
7-55221822-CC-TT |
c.866_867delinsTT |
p.A289V |
Missense |
7/28 |
- |
1 |
7-55221822-C-G |
c.866C>G |
p.A289G |
Missense |
7/28 |
- |
2 |
7-55221822-C-T |
c.866C>T |
p.A289V |
Missense |
7/28 |
- |
210 |
7-55221823-C-A |
c.867C>A |
p.A289= |
Synonymous |
7/28 |
- |
3 |
7-55221823-C-G |
c.867C>G |
p.A289= |
Synonymous |
7/28 |
- |
3 |
7-55221823-C-T |
c.867C>T |
p.A289= |
Synonymous |
7/28 |
- |
4 |
7-55221824-A-C |
c.868A>C |
p.T290P |
Missense |
7/28 |
- |
1 |
7-55221824-A-G |
c.868A>G |
p.T290A |
Missense |
7/28 |
- |
1 |
7-55221825-CC-TG |
c.869_870delinsTG |
p.T290M |
Missense |
7/28 |
- |
6 |
7-55221825-C-T |
c.869C>T |
p.T290I |
Missense |
7/28 |
- |
5 |
7-55221826-C-A |
c.870C>A |
p.T290= |
Synonymous |
7/28 |
- |
2 |
7-55221826-C-G |
c.870C>G |
p.T290= |
Synonymous |
7/28 |
- |
2 |
7-55221826-C-T |
c.870C>T |
p.T290= |
Synonymous |
7/28 |
- |
2 |
7-55221825-CCTG-C |
c.871_873del |
p.C291del |
InFrameDeletion |
7/28 |
- |
1 |
7-55221827-T-A |
c.871T>A |
p.C291S |
Missense |
7/28 |
- |
1 |
7-55221827-T-C |
c.871T>C |
p.C291R |
Missense |
7/28 |
- |
2 |
7-55221828-G-C |
c.872G>C |
p.C291S |
Missense |
7/28 |
- |
1 |
7-55221828-G-A |
c.872G>A |
p.C291Y |
Missense |
7/28 |
- |
4 |
7-55221828-G-T |
c.872G>T |
p.C291F |
Missense |
7/28 |
- |
2 |
7-55221829-C-A |
c.873C>A |
p.C291* |
Nonsense |
7/28 |
- |
1 |
7-55221829-C-T |
c.873C>T |
p.C291= |
Synonymous |
7/28 |
- |
5 |
7-55221830-G-A |
c.874G>A |
p.V292M |
Missense |
7/28 |
- |
16 |
7-55221830-G-C |
c.874G>C |
p.V292L |
Missense |
7/28 |
- |
14 |
7-55221830-G-T |
c.874G>T |
p.V292L |
Missense |
7/28 |
- |
18 |
7-55221831-T-A |
c.875T>A |
p.V292E |
Missense |
7/28 |
- |
1 |
7-55221831-T-C |
c.875T>C |
p.V292A |
Missense |
7/28 |
- |
6 |
7-55221831-T-G |
c.875T>G |
p.V292G |
Missense |
7/28 |
- |
1 |
7-55221832-G-A |
c.876G>A |
p.V292= |
Synonymous |
7/28 |
- |
3 |
7-55221832-GA-G |
c.878del |
p.K293Rfs*9 |
Frameshift |
7/28 |
- |
1 |
7-55221834-A-C |
c.878A>C |
p.K293T |
Missense |
7/28 |
- |
2 |
7-55221834-A-G |
c.878A>G |
p.K293R |
Missense |
7/28 |
- |
3 |
7-55221835-G-A |
c.879G>A |
p.K293= |
Synonymous |
7/28 |
- |
2 |
7-55221835-G-T |
c.879G>T |
p.K293N |
Missense |
7/28 |
- |
2 |
7-55221836-A-G |
c.880A>G |
p.K294E |
Missense |
7/28 |
- |
2 |
7-55221836-GAA-G |
c.880_881del |
p.K294Vfs*4 |
Frameshift |
7/28 |
- |
1 |
7-55221837-A-C |
c.881A>C |
p.K294T |
Missense |
7/28 |
- |
2 |
7-55221837-A-G |
c.881A>G |
p.K294R |
Missense |
7/28 |
- |
2 |
7-55221838-G-C |
c.882G>C |
p.K294N |
Missense |
7/28 |
- |
1 |
7-55221838-G-T |
c.882G>T |
p.K294N |
Missense |
7/28 |
- |
1 |
7-55221839-T-C |
c.883T>C |
p.C295R |
Missense |
7/28 |
- |
3 |
7-55221839-TG-GC |
c.883_884delinsGC |
p.C295A |
Missense |
7/28 |
- |
1 |
7-55221840-G-A |
c.884G>A |
p.C295Y |
Missense |
7/28 |
- |
2 |
7-55221840-G-T |
c.884G>T |
p.C295F |
Missense |
7/28 |
- |
3 |
7-55221842-C-A |
c.886C>A |
p.P296T |
Missense |
7/28 |
- |
2 |
7-55221842-C-G |
c.886C>G |
p.P296A |
Missense |
7/28 |
- |
1 |
7-55221842-C-T |
c.886C>T |
p.P296S |
Missense |
7/28 |
- |
2 |
7-55221843-C-T |
c.887C>T |
p.P296L |
Missense |
7/28 |
- |
3 |
7-55221844-C-A |
c.888C>A |
p.P296= |
Synonymous |
7/28 |
- |
1 |
7-55221844-C-G |
c.888C>G |
p.P296= |
Synonymous |
7/28 |
- |
1 |
7-55221844-C-T |
c.888C>T |
p.P296= |
Synonymous |
7/28 |
- |
1 |
7-55221845-C-A |
c.889C>A |
p.R297S |
Missense |
7/28 |
- |
1 |
7-55221845-C-T |
c.889C>T |
p.R297C |
Missense |
7/28 |
- |
9 |
7-55221846-G-A |
c.889+1G>A |
- |
IntronicSNV |
- |
7/27 |
5 |
7-55221848-G-A |
c.889+3G>A |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55221850-G-A |
c.889+5G>A |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55221852-C-A |
c.889+7C>A |
- |
IntronicSNV |
- |
7/27 |
2 |
7-55221852-C-T |
c.889+7C>T |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55221853-C-T |
c.889+8C>T |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55221855-C-T |
c.889+10C>T |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55221859-T-C |
c.889+14T>C |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55221860-G-A |
c.889+15G>A |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55221863-G-T |
c.889+18G>T |
- |
IntronicSNV |
- |
7/27 |
3 |
7-55221879-A-G |
c.889+34A>G |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55221883-A-G |
c.889+38A>G |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55221893-C-T |
c.889+48C>T |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55221898-T-C |
c.889+53T>C |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55221991-G-T |
c.889+146G>T |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55222755-G-A |
c.890-768G>A |
- |
IntronicSNV |
- |
7/27 |
2 |
7-55222954-G-A |
c.890-569G>A |
- |
IntronicSNV |
- |
7/27 |
2 |
7-55223176-G-A |
c.890-347G>A |
- |
IntronicSNV |
- |
7/27 |
7 |
7-55223358-G-C |
c.890-165G>C |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55223378-C-A |
c.890-145C>A |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55223378-C-T |
c.890-145C>T |
- |
IntronicSNV |
- |
7/27 |
1 |
7-55223489-C-T |
c.890-34C>T |
- |
IntronicSNV |
- |
7/27 |
1 |
7 |