7-119914673-C-T |
c.-14C>T |
- |
5-UTRSNV |
1/6 |
- |
1 |
7-119914689-G-A |
c.3G>A |
p.M1? |
Missense |
1/6 |
- |
1 |
7-119914689-G-C |
c.3G>C |
p.M1? |
Missense |
1/6 |
- |
1 |
7-119914689-G-T |
c.3G>T |
p.M1? |
Missense |
1/6 |
- |
1 |
7-119914691-C-T |
c.5C>T |
p.A2V |
Missense |
1/6 |
- |
6 |
7-119914694-C-T |
c.8C>T |
p.A3V |
Missense |
1/6 |
- |
5 |
7-119914695-G-A |
c.9G>A |
p.A3= |
Synonymous |
1/6 |
- |
1 |
7-119914695-G-C |
c.9G>C |
p.A3= |
Synonymous |
1/6 |
- |
3 |
7-119914697-G-A |
c.11G>A |
p.G4E |
Missense |
1/6 |
- |
1 |
7-119914697-G-T |
c.11G>T |
p.G4V |
Missense |
1/6 |
- |
1 |
7-119914698-G-A |
c.12G>A |
p.G4= |
Synonymous |
1/6 |
- |
2 |
7-119914694-CG-C |
c.13del |
p.V5Wfs*41 |
Frameshift |
1/6 |
- |
6 |
7-119914699-G-C |
c.13G>C |
p.V5L |
Missense |
1/6 |
- |
1 |
7-119914699-G-T |
c.13G>T |
p.V5L |
Missense |
1/6 |
- |
1 |
7-119914701-G-A |
c.15G>A |
p.V5= |
Synonymous |
1/6 |
- |
3 |
7-119914701-G-C |
c.15G>C |
p.V5= |
Synonymous |
1/6 |
- |
1 |
7-119914701-G-T |
c.15G>T |
p.V5= |
Synonymous |
1/6 |
- |
1 |
7-119914703-C-G |
c.17C>G |
p.A6G |
Missense |
1/6 |
- |
1 |
7-119914706-C-T |
c.20C>T |
p.A7V |
Missense |
1/6 |
- |
3 |
7-119914707-G-A |
c.21G>A |
p.A7= |
Synonymous |
1/6 |
- |
1 |
7-119914707-G-C |
c.21G>C |
p.A7= |
Synonymous |
1/6 |
- |
1 |
7-119914707-G-T |
c.21G>T |
p.A7= |
Synonymous |
1/6 |
- |
1 |
7-119914714-CCT-AAG |
c.28_30delinsAAG |
p.P10K |
Missense |
1/6 |
- |
1 |
7-119914714-C-T |
c.28C>T |
p.P10S |
Missense |
1/6 |
- |
2 |
7-119914715-C-A |
c.29C>A |
p.P10H |
Missense |
1/6 |
- |
2 |
7-119914717-T-C |
c.31T>C |
p.F11L |
Missense |
1/6 |
- |
3 |
7-119914717-TT-CG |
c.31_32delinsCG |
p.F11R |
Missense |
1/6 |
- |
3 |
7-119914717-TT-GC |
c.31_32delinsGC |
p.F11A |
Missense |
1/6 |
- |
1 |
7-119914717-TTT-AAG |
c.31_33delinsAAG |
p.F11K |
Missense |
1/6 |
- |
2 |
7-119914719-T-A |
c.33T>A |
p.F11L |
Missense |
1/6 |
- |
2 |
7-119914719-T-G |
c.33T>G |
p.F11L |
Missense |
1/6 |
- |
3 |
7-119914720-GC-AA |
c.34_35delinsAA |
p.A12K |
Missense |
1/6 |
- |
1 |
7-119914720-GC-CT |
c.34_35delinsCT |
p.A12L |
Missense |
1/6 |
- |
1 |
7-119914720-GC-TA |
c.34_35delinsTA |
p.A12* |
Nonsense |
1/6 |
- |
1 |
7-119914720-G-T |
c.34G>T |
p.A12S |
Missense |
1/6 |
- |
1 |
7-119914723-AG-GA |
c.37_38delinsGA |
p.R13E |
Missense |
1/6 |
- |
1 |
7-119914724-G-A |
c.38G>A |
p.R13K |
Missense |
1/6 |
- |
1 |
7-119914725-G-C |
c.39G>C |
p.R13S |
Missense |
1/6 |
- |
1 |
7-119914726-G-A |
c.40G>A |
p.A14T |
Missense |
1/6 |
- |
1 |
7-119914726-G-C |
c.40G>C |
p.A14P |
Missense |
1/6 |
- |
1 |
7-119914726-GC-AA |
c.40_41delinsAA |
p.A14K |
Missense |
1/6 |
- |
2 |
7-119914726-G-T |
c.40G>T |
p.A14S |
Missense |
1/6 |
- |
1 |
7-119914727-C-T |
c.41C>T |
p.A14V |
Missense |
1/6 |
- |
2 |
7-119914729-GC-AA |
c.43_44delinsAA |
p.A15K |
Missense |
1/6 |
- |
1 |
7-119914730-C-T |
c.44C>T |
p.A15V |
Missense |
1/6 |
- |
1 |
7-119914731-G-A |
c.45G>A |
p.A15= |
Synonymous |
1/6 |
- |
1 |
7-119914732-GC-TA |
c.46_47delinsTA |
p.A16Y |
Missense |
1/6 |
- |
2 |
7-119914732-GCT-AAG |
c.46_48delinsAAG |
p.A16K |
Missense |
1/6 |
- |
1 |
7-119914732-G-T |
c.46G>T |
p.A16S |
Missense |
1/6 |
- |
1 |
7-119914736-TC-AG |
c.50_51delinsAG |
p.I17K |
Missense |
1/6 |
- |
1 |
7-119914737-C-A |
c.51C>A |
p.I17= |
Synonymous |
1/6 |
- |
2 |
7-119914737-C-G |
c.51C>G |
p.I17M |
Missense |
1/6 |
- |
2 |
7-119914737-C-T |
c.51C>T |
p.I17= |
Synonymous |
1/6 |
- |
4 |
7-119914738-G-A |
c.52G>A |
p.G18R |
Missense |
1/6 |
- |
3 |
7-119914738-G-C |
c.52G>C |
p.G18R |
Missense |
1/6 |
- |
2 |
7-119914738-GG-AA |
c.52_53delinsAA |
p.G18K |
Missense |
1/6 |
- |
2 |
7-119914738-GG-TA |
c.52_53delinsTA |
p.G18* |
Nonsense |
1/6 |
- |
1 |
7-119914739-G-A |
c.53G>A |
p.G18E |
Missense |
1/6 |
- |
4 |
7-119914737-C-CG |
c.54dup |
p.W19Vfs*53 |
Frameshift |
1/6 |
- |
1 |
7-119914741-TG-AA |
c.55_56delinsAA |
p.W19K |
Missense |
1/6 |
- |
1 |
7-119914742-G-A |
c.56G>A |
p.W19* |
Nonsense |
1/6 |
- |
1 |
7-119914743-G-A |
c.57G>A |
p.W19* |
Nonsense |
1/6 |
- |
6 |
7-119914745-T-A |
c.59T>A |
p.M20K |
Missense |
1/6 |
- |
1 |
7-119914745-T-G |
c.59T>G |
p.M20R |
Missense |
1/6 |
- |
1 |
7-119914747-CCT-AAG |
c.61_63delinsAAG |
p.P21K |
Missense |
1/6 |
- |
1 |
7-119914748-C-A |
c.62C>A |
p.P21H |
Missense |
1/6 |
- |
1 |
7-119914750-G-C |
c.64G>C |
p.V22L |
Missense |
1/6 |
- |
1 |
7-119914750-GT-AA |
c.64_65delinsAA |
p.V22K |
Missense |
1/6 |
- |
1 |
7-119914753-GCC-AAG |
c.67_69delinsAAG |
p.A23K |
Missense |
1/6 |
- |
1 |
7-119914754-C-T |
c.68C>T |
p.A23V |
Missense |
1/6 |
- |
2 |
7-119914756-TC-AA |
c.70_71delinsAA |
p.S24K |
Missense |
1/6 |
- |
1 |
7-119914756-TC-GA |
c.70_71inv |
p.S24E |
Missense |
1/6 |
- |
1 |
7-119914757-C-T |
c.71C>T |
p.S24L |
Missense |
1/6 |
- |
6 |
7-119914758-G-A |
c.72G>A |
p.S24= |
Synonymous |
1/6 |
- |
1 |
7-119914759-GG-AA |
c.73_74delinsAA |
p.G25K |
Missense |
1/6 |
- |
1 |
7-119914760-G-T |
c.74G>T |
p.G25V |
Missense |
1/6 |
- |
1 |
7-119914762-CCT-AAG |
c.76_78delinsAAG |
p.P26K |
Missense |
1/6 |
- |
1 |
7-119914762-GCC-G |
c.76_77del |
p.P26Yfs*45 |
Frameshift |
1/6 |
- |
1 |
7-119914766-T-A |
c.80T>A |
p.M27K |
Missense |
1/6 |
- |
1 |
7-119914768-CC-AA |
c.82_83delinsAA |
p.P28K |
Missense |
1/6 |
- |
1 |
7-119914768-C-T |
c.82C>T |
p.P28S |
Missense |
1/6 |
- |
2 |
7-119914769-C-T |
c.83C>T |
p.P28L |
Missense |
1/6 |
- |
2 |
7-119914770-G-A |
c.84G>A |
p.P28= |
Synonymous |
1/6 |
- |
5 |
7-119914770-G-C |
c.84G>C |
p.P28= |
Synonymous |
1/6 |
- |
2 |
7-119914770-G-T |
c.84G>T |
p.P28= |
Synonymous |
1/6 |
- |
2 |
7-119914771-G-A |
c.85G>A |
p.A29T |
Missense |
1/6 |
- |
3 |
7-119914771-GC-CT |
c.85_86delinsCT |
p.A29L |
Missense |
1/6 |
- |
3 |
7-119914771-GCT-ATG |
c.85_87delinsATG |
p.A29M |
Missense |
1/6 |
- |
1 |
7-119914771-GC-TG |
c.85_86delinsTG |
p.A29C |
Missense |
1/6 |
- |
1 |
7-119914772-C-A |
c.86C>A |
p.A29D |
Missense |
1/6 |
- |
2 |
7-119914772-C-CA |
c.86_87insA |
p.P30Sfs*42 |
Frameshift |
1/6 |
- |
1 |
7-119914772-C-G |
c.86C>G |
p.A29G |
Missense |
1/6 |
- |
1 |
7-119914772-CT-AG |
c.86_87inv |
p.A29E |
Missense |
1/6 |
- |
1 |
7-119914773-T-TAG |
c.87_88insAG |
p.P30Sfs*17 |
Frameshift |
1/6 |
- |
1 |
7-119914774-C-A |
c.88C>A |
p.P30T |
Missense |
1/6 |
- |
2 |
7-119914774-CCC-AAG |
c.88_90delinsAAG |
p.P30K |
Missense |
1/6 |
- |
1 |
7-119914774-C-G |
c.88C>G |
p.P30A |
Missense |
1/6 |
- |
1 |
7-119914774-C-T |
c.88C>T |
p.P30S |
Missense |
1/6 |
- |
1 |
7-119914776-C-A |
c.90C>A |
p.P30= |
Synonymous |
1/6 |
- |
1 |
7-119914777-C-T |
c.91C>T |
p.P31S |
Missense |
1/6 |
- |
1 |
7-119914779-G-A |
c.93G>A |
p.P31= |
Synonymous |
1/6 |
- |
3 |
7-119914779-G-C |
c.93G>C |
p.P31= |
Synonymous |
1/6 |
- |
3 |
7-119914779-G-T |
c.93G>T |
p.P31= |
Synonymous |
1/6 |
- |
3 |
7-119914780-AG-CA |
c.94_95delinsCA |
p.R32Q |
Missense |
1/6 |
- |
1 |
7-119914781-G-T |
c.95G>T |
p.R32M |
Missense |
1/6 |
- |
1 |
7-119914782-G-A |
c.96G>A |
p.R32= |
Synonymous |
1/6 |
- |
1 |
7-119914783-CA-AC |
c.97_98delinsAC |
p.Q33T |
Missense |
1/6 |
- |
1 |
7-119914783-C-G |
c.97C>G |
p.Q33E |
Missense |
1/6 |
- |
3 |
7-119914784-A-C |
c.98A>C |
p.Q33P |
Missense |
1/6 |
- |
1 |
7-119914784-A-G |
c.98A>G |
p.Q33R |
Missense |
1/6 |
- |
3 |
7-119914785-G-T |
c.99G>T |
p.Q33H |
Missense |
1/6 |
- |
1 |
7-119914786-G-A |
c.100G>A |
p.E34K |
Missense |
1/6 |
- |
3 |
7-119914790-G-A |
c.104G>A |
p.R35K |
Missense |
1/6 |
- |
5 |
7-119914791-G-A |
c.105G>A |
p.R35= |
Synonymous |
1/6 |
- |
4 |
7-119914791-G-C |
c.105G>C |
p.R35S |
Missense |
1/6 |
- |
1 |
7-119914791-G-T |
c.105G>T |
p.R35S |
Missense |
1/6 |
- |
1 |
7-119914793-A-T |
c.107A>T |
p.K36I |
Missense |
1/6 |
- |
2 |
7-119914795-AG-GA |
c.109_110delinsGA |
p.R37E |
Missense |
1/6 |
- |
1 |
7-119914796-G-A |
c.110G>A |
p.R37K |
Missense |
1/6 |
- |
2 |
7-119914798-A-G |
c.112A>G |
p.T38A |
Missense |
1/6 |
- |
3 |
7-119914801-C-A |
c.115C>A |
p.Q39K |
Missense |
1/6 |
- |
1 |
7-119914804-G-T |
c.118G>T |
p.D40Y |
Missense |
1/6 |
- |
1 |
7-119914807-G-T |
c.121G>T |
p.A41S |
Missense |
1/6 |
- |
1 |
7-119914808-C-G |
c.122C>G |
p.A41G |
Missense |
1/6 |
- |
3 |
7-119914812-C-A |
c.126C>A |
p.L42= |
Synonymous |
1/6 |
- |
1 |
7-119914812-C-G |
c.126C>G |
p.L42= |
Synonymous |
1/6 |
- |
1 |
7-119914812-C-T |
c.126C>T |
p.L42= |
Synonymous |
1/6 |
- |
1 |
7-119914816-G-A |
c.130G>A |
p.V44M |
Missense |
1/6 |
- |
1 |
7-119914820-T-G |
c.134T>G |
p.L45R |
Missense |
1/6 |
- |
2 |
7-119914819-C-T |
c.133C>T |
p.L45= |
Synonymous |
1/6 |
- |
4 |
7-119914821-G-A |
c.135G>A |
p.L45= |
Synonymous |
1/6 |
- |
5 |
7-119914821-G-C |
c.135G>C |
p.L45= |
Synonymous |
1/6 |
- |
5 |
7-119914821-G-T |
c.135G>T |
p.L45= |
Synonymous |
1/6 |
- |
6 |
7-119914823-A-G |
c.137A>G |
p.N46S |
Missense |
1/6 |
- |
1 |
7-119914830-T-C |
c.144T>C |
p.S48= |
Synonymous |
1/6 |
- |
1 |
7-119914836-C-A |
c.150C>A |
p.T50= |
Synonymous |
1/6 |
- |
1 |
7-119914836-C-G |
c.150C>G |
p.T50= |
Synonymous |
1/6 |
- |
1 |
7-119914836-C-T |
c.150C>T |
p.T50= |
Synonymous |
1/6 |
- |
1 |
7-119914837-C-A |
c.151C>A |
p.R51S |
Missense |
1/6 |
- |
1 |
7-119914837-CG-GC |
c.151_152delinsGC |
p.R51A |
Missense |
1/6 |
- |
1 |
7-119914838-G-A |
c.152G>A |
p.R51H |
Missense |
1/6 |
- |
3 |
7-119914839-C-T |
c.153C>T |
p.R51= |
Synonymous |
1/6 |
- |
1 |
7-119914840-T-C |
c.154T>C |
p.F52L |
Missense |
1/6 |
- |
1 |
7-119914842-C-G |
c.156C>G |
p.F52L |
Missense |
1/6 |
- |
1 |
7-119914841-T-C |
c.155T>C |
p.F52S |
Missense |
1/6 |
- |
1 |
7-119914842-C-A |
c.156C>A |
p.F52L |
Missense |
1/6 |
- |
2 |
7-119914843-C-G |
c.157C>G |
p.Q53E |
Missense |
1/6 |
- |
3 |
7-119914845-G-C |
c.159G>C |
p.Q53H |
Missense |
1/6 |
- |
1 |
7-119914847-C-T |
c.161C>T |
p.T54M |
Missense |
1/6 |
- |
1 |
7-119914850-G-A |
c.164G>A |
p.W55* |
Nonsense |
1/6 |
- |
1 |
7-119914851-G-A |
c.165G>A |
p.W55* |
Nonsense |
1/6 |
- |
1 |
7-119914853-A-T |
c.167A>T |
p.Q56L |
Missense |
1/6 |
- |
1 |
7-119914854-G-A |
c.168G>A |
p.Q56= |
Synonymous |
1/6 |
- |
3 |
7-119914855-G-A |
c.169G>A |
p.D57N |
Missense |
1/6 |
- |
1 |
7-119914855-G-T |
c.169G>T |
p.D57Y |
Missense |
1/6 |
- |
1 |
7-119914859-CC-TG |
c.173_174delinsTG |
p.T58M |
Missense |
1/6 |
- |
1 |
7-119914859-C-T |
c.173C>T |
p.T58I |
Missense |
1/6 |
- |
1 |
7-119914860-C-G |
c.174C>G |
p.T58= |
Synonymous |
1/6 |
- |
4 |
7-119914860-C-T |
c.174C>T |
p.T58= |
Synonymous |
1/6 |
- |
1 |
7-119914862-T-C |
c.176T>C |
p.L59P |
Missense |
1/6 |
- |
1 |
7-119914867-C-G |
c.181C>G |
p.R61G |
Missense |
1/6 |
- |
1 |
7-119914867-C-T |
c.181C>T |
p.R61C |
Missense |
1/6 |
- |
2 |
7-119914868-G-A |
c.182G>A |
p.R61H |
Missense |
1/6 |
- |
2 |
7-119914872-C-T |
c.186C>T |
p.Y62= |
Synonymous |
1/6 |
- |
1 |
7-119914872-C-CCG |
c.187_188insGC |
p.P63Rfs*35 |
Frameshift |
1/6 |
- |
1 |
7-119914873-C-A |
c.187C>A |
p.P63T |
Missense |
1/6 |
- |
4 |
7-119914873-C-CTCATGT |
c.187_188insTCATGT |
p.P63delinsLMS |
MultiAAMissense |
1/6 |
- |
1 |
7-119914873-C-G |
c.187C>G |
p.P63A |
Missense |
1/6 |
- |
2 |
7-119914874-C-A |
c.188C>A |
p.P63Q |
Missense |
1/6 |
- |
1 |
7-119914876-GAC-AAG |
c.190_192delinsAAG |
p.D64K |
Missense |
1/6 |
- |
1 |
7-119914878-C-A |
c.192C>A |
p.D64E |
Missense |
1/6 |
- |
1 |
7-119914879-A-C |
c.193A>C |
p.T65P |
Missense |
1/6 |
- |
1 |
7-119914881-T-A |
c.195T>A |
p.T65= |
Synonymous |
1/6 |
- |
1 |
7-119914881-T-C |
c.195T>C |
p.T65= |
Synonymous |
1/6 |
- |
1 |
7-119914881-T-G |
c.195T>G |
p.T65= |
Synonymous |
1/6 |
- |
1 |
7-119914882-CT-AA |
c.196_197delinsAA |
p.L66K |
Missense |
1/6 |
- |
1 |
7-119914882-CTA-GAC |
c.196_198delinsGAC |
p.L66D |
Missense |
1/6 |
- |
1 |
7-119914883-T-G |
c.197T>G |
p.L66R |
Missense |
1/6 |
- |
1 |
7-119914885-C-G |
c.199C>G |
p.L67V |
Missense |
1/6 |
- |
2 |
7-119914885-C-T |
c.199C>T |
p.L67= |
Synonymous |
1/6 |
- |
1 |
7-119914890-C-A |
c.204C>A |
p.G68= |
Synonymous |
1/6 |
- |
1 |
7-119914891-AG-GA |
c.205_206delinsGA |
p.S69D |
Missense |
1/6 |
- |
1 |
7-119914892-G-A |
c.206G>A |
p.S69N |
Missense |
1/6 |
- |
2 |
7-119914894-TC-GA |
c.208_209inv |
p.S70D |
Missense |
1/6 |
- |
1 |
7-119914894-TCT-AAG |
c.208_210delinsAAG |
p.S70K |
Missense |
1/6 |
- |
1 |
7-119914896-T-C |
c.210T>C |
p.S70= |
Synonymous |
1/6 |
- |
1 |
7-119914897-G-A |
c.211G>A |
p.E71K |
Missense |
1/6 |
- |
1 |
7-119914901-G-T |
c.215G>T |
p.R72M |
Missense |
1/6 |
- |
3 |
7-119914904-A-G |
c.218A>G |
p.D73G |
Missense |
1/6 |
- |
1 |
7-119914906-T-G |
c.220T>G |
p.F74V |
Missense |
1/6 |
- |
2 |
7-119914906-TTT-AAG |
c.220_222delinsAAG |
p.F74K |
Missense |
1/6 |
- |
1 |
7-119914909-T-C |
c.223T>C |
p.F75L |
Missense |
1/6 |
- |
1 |
7-119914909-TTC-AAG |
c.223_225delinsAAG |
p.F75K |
Missense |
1/6 |
- |
1 |
7-119914911-C-A |
c.225C>A |
p.F75L |
Missense |
1/6 |
- |
1 |
7-119914911-C-G |
c.225C>G |
p.F75L |
Missense |
1/6 |
- |
1 |
7-119914905-CT-C |
c.224del |
p.F75Sfs*22 |
Frameshift |
1/6 |
- |
1 |
7-119914912-TA-GC |
c.226_227delinsGC |
p.Y76A |
Missense |
1/6 |
- |
1 |
7-119914912-TA-GT |
c.226_227delinsGT |
p.Y76V |
Missense |
1/6 |
- |
1 |
7-119914914-C-A |
c.228C>A |
p.Y76* |
Nonsense |
1/6 |
- |
1 |
7-119914914-C-G |
c.228C>G |
p.Y76* |
Nonsense |
1/6 |
- |
1 |
7-119914912-TACC-T |
c.230_232del |
p.H77del |
InFrameDeletion |
1/6 |
- |
1 |
7-119914917-C-T |
c.231C>T |
p.H77= |
Synonymous |
1/6 |
- |
1 |
7-119914918-C-A |
c.232C>A |
p.P78T |
Missense |
1/6 |
- |
2 |
7-119914919-C-A |
c.233C>A |
p.P78Q |
Missense |
1/6 |
- |
2 |
7-119914921-G-A |
c.235G>A |
p.E79K |
Missense |
1/6 |
- |
1 |
7-119914922-A-C |
c.236A>C |
p.E79A |
Missense |
1/6 |
- |
1 |
7-119914926-T-A |
c.240T>A |
p.T80= |
Synonymous |
1/6 |
- |
1 |
7-119914927-CA-GC |
c.241_242delinsGC |
p.Q81A |
Missense |
1/6 |
- |
1 |
7-119914927-C-T |
c.241C>T |
p.Q81* |
Nonsense |
1/6 |
- |
1 |
7-119914929-G-T |
c.243G>T |
p.Q81H |
Missense |
1/6 |
- |
1 |
7-119914936-T-C |
c.250T>C |
p.F84L |
Missense |
1/6 |
- |
2 |
7-119914938-C-A |
c.252C>A |
p.F84L |
Missense |
1/6 |
- |
3 |
7-119914938-C-G |
c.252C>G |
p.F84L |
Missense |
1/6 |
- |
2 |
7-119914937-T-C |
c.251T>C |
p.F84S |
Missense |
1/6 |
- |
1 |
7-119914938-C-T |
c.252C>T |
p.F84= |
Synonymous |
1/6 |
- |
5 |
7-119914939-T-C |
c.253T>C |
p.F85L |
Missense |
1/6 |
- |
1 |
7-119914940-T-C |
c.254T>C |
p.F85S |
Missense |
1/6 |
- |
1 |
7-119914945-C-A |
c.259C>A |
p.R87S |
Missense |
1/6 |
- |
2 |
7-119914945-C-G |
c.259C>G |
p.R87G |
Missense |
1/6 |
- |
4 |
7-119914945-C-T |
c.259C>T |
p.R87C |
Missense |
1/6 |
- |
1 |
7-119914946-G-A |
c.260G>A |
p.R87H |
Missense |
1/6 |
- |
1 |
7-119914946-G-C |
c.260G>C |
p.R87P |
Missense |
1/6 |
- |
1 |
7-119914950-C-A |
c.264C>A |
p.D88E |
Missense |
1/6 |
- |
1 |
7-119914951-C-T |
c.265C>T |
p.P89S |
Missense |
1/6 |
- |
5 |
7-119914959-C-G |
c.273C>G |
p.I91M |
Missense |
1/6 |
- |
1 |
7-119914961-T-C |
c.275T>C |
p.F92S |
Missense |
1/6 |
- |
3 |
7-119914962-C-T |
c.276C>T |
p.F92= |
Synonymous |
1/6 |
- |
1 |
7-119914963-CG-GC |
c.277_278delinsGC |
p.R93A |
Missense |
1/6 |
- |
1 |
7-119914967-A-G |
c.281A>G |
p.H94R |
Missense |
1/6 |
- |
1 |
7-119914976-A-T |
c.290A>T |
p.N97I |
Missense |
1/6 |
- |
1 |
7-119914978-T-A |
c.292T>A |
p.F98I |
Missense |
1/6 |
- |
1 |
7-119914980-C-T |
c.294C>T |
p.F98= |
Synonymous |
1/6 |
- |
4 |
7-119914982-A-G |
c.296A>G |
p.Y99C |
Missense |
1/6 |
- |
1 |
7-119914983-C-T |
c.297C>T |
p.Y99= |
Synonymous |
1/6 |
- |
2 |
7-119914984-C-A |
c.298C>A |
p.R100S |
Missense |
1/6 |
- |
1 |
7-119914984-C-T |
c.298C>T |
p.R100C |
Missense |
1/6 |
- |
4 |
7-119914985-G-A |
c.299G>A |
p.R100H |
Missense |
1/6 |
- |
10 |
7-119914985-G-T |
c.299G>T |
p.R100L |
Missense |
1/6 |
- |
2 |
7-119914986-C-A |
c.300C>A |
p.R100= |
Synonymous |
1/6 |
- |
2 |
7-119914988-C-A |
c.302C>A |
p.T101N |
Missense |
1/6 |
- |
1 |
7-119914990-G-T |
c.304G>T |
p.G102W |
Missense |
1/6 |
- |
1 |
7-119914991-G-A |
c.305G>A |
p.G102E |
Missense |
1/6 |
- |
2 |
7-119914991-G-T |
c.305G>T |
p.G102V |
Missense |
1/6 |
- |
1 |
7-119914989-TG-T |
c.306del |
p.K103Sfs*63 |
Frameshift |
1/6 |
- |
1 |
7-119914995-G-T |
c.309G>T |
p.K103N |
Missense |
1/6 |
- |
1 |
7-119914999-C-T |
c.313C>T |
p.H105Y |
Missense |
1/6 |
- |
4 |
7-119915003-A-G |
c.317A>G |
p.Y106C |
Missense |
1/6 |
- |
1 |
7-119915005-C-A |
c.319C>A |
p.P107T |
Missense |
1/6 |
- |
4 |
7-119915005-C-T |
c.319C>T |
p.P107S |
Missense |
1/6 |
- |
1 |
7-119915008-CGC-TGA |
c.322_324delinsTGA |
p.R108* |
Nonsense |
1/6 |
- |
1 |
7-119915008-C-T |
c.322C>T |
p.R108C |
Missense |
1/6 |
- |
3 |
7-119915008-TC-T |
c.322del |
p.R108Afs*58 |
Frameshift |
1/6 |
- |
1 |
7-119915009-G-A |
c.323G>A |
p.R108H |
Missense |
1/6 |
- |
1 |
7-119915013-C-A |
c.327C>A |
p.H109Q |
Missense |
1/6 |
- |
2 |
7-119915013-C-G |
c.327C>G |
p.H109Q |
Missense |
1/6 |
- |
1 |
7-119915013-C-T |
c.327C>T |
p.H109= |
Synonymous |
1/6 |
- |
2 |
7-119915014-G-A |
c.328G>A |
p.E110K |
Missense |
1/6 |
- |
5 |
7-119915014-G-C |
c.328G>C |
p.E110Q |
Missense |
1/6 |
- |
1 |
7-119915017-TG-GC |
c.331_332delinsGC |
p.C111A |
Missense |
1/6 |
- |
1 |
7-119915017-T-TAA |
c.331_332insAA |
p.C111* |
Nonsense |
1/6 |
- |
1 |
7-119915022-C-A |
c.336C>A |
p.I112= |
Synonymous |
1/6 |
- |
2 |
7-119915022-C-T |
c.336C>T |
p.I112= |
Synonymous |
1/6 |
- |
3 |
7-119915026-G-A |
c.340G>A |
p.A114T |
Missense |
1/6 |
- |
1 |
7-119915031-C-T |
c.345C>T |
p.Y115= |
Synonymous |
1/6 |
- |
2 |
7-119915032-G-A |
c.346G>A |
p.D116N |
Missense |
1/6 |
- |
10 |
7-119915035-G-A |
c.349G>A |
p.E117K |
Missense |
1/6 |
- |
2 |
7-119915038-G-A |
c.352G>A |
p.E118K |
Missense |
1/6 |
- |
2 |
7-119915040-A-G |
c.354A>G |
p.E118= |
Synonymous |
1/6 |
- |
1 |
7-119915045-C-T |
c.359C>T |
p.A120V |
Missense |
1/6 |
- |
1 |
7-119915046-C-T |
c.360C>T |
p.A120= |
Synonymous |
1/6 |
- |
3 |
7-119915047-T-C |
c.361T>C |
p.F121L |
Missense |
1/6 |
- |
1 |
7-119915047-T-G |
c.361T>G |
p.F121V |
Missense |
1/6 |
- |
1 |
7-119915049-C-A |
c.363C>A |
p.F121L |
Missense |
1/6 |
- |
1 |
7-119915049-C-G |
c.363C>G |
p.F121L |
Missense |
1/6 |
- |
1 |
7-119915048-T-C |
c.362T>C |
p.F121S |
Missense |
1/6 |
- |
1 |
7-119915053-G-A |
c.367G>A |
p.G123S |
Missense |
1/6 |
- |
1 |
7-119915055-C-A |
c.369C>A |
p.G123= |
Synonymous |
1/6 |
- |
1 |
7-119915055-C-G |
c.369C>G |
p.G123= |
Synonymous |
1/6 |
- |
1 |
7-119915055-C-T |
c.369C>T |
p.G123= |
Synonymous |
1/6 |
- |
1 |
7-119915056-C-T |
c.370C>T |
p.L124F |
Missense |
1/6 |
- |
1 |
7-119915059-A-G |
c.373A>G |
p.I125V |
Missense |
1/6 |
- |
1 |
7-119915061-C-A |
c.375C>A |
p.I125= |
Synonymous |
1/6 |
- |
3 |
7-119915061-C-T |
c.375C>T |
p.I125= |
Synonymous |
1/6 |
- |
1 |
7-119915062-C-A |
c.376C>A |
p.P126T |
Missense |
1/6 |
- |
4 |
7-119915063-C-G |
c.377C>G |
p.P126R |
Missense |
1/6 |
- |
1 |
7-119915063-C-T |
c.377C>T |
p.P126L |
Missense |
1/6 |
- |
2 |
7-119915064-G-A |
c.378G>A |
p.P126= |
Synonymous |
1/6 |
- |
4 |
7-119915065-G-A |
c.379G>A |
p.E127K |
Missense |
1/6 |
- |
1 |
7-119915071-A-G |
c.385A>G |
p.I129V |
Missense |
1/6 |
- |
1 |
7-119915073-C-T |
c.387C>T |
p.I129= |
Synonymous |
1/6 |
- |
1 |
7-119915075-G-A |
c.389G>A |
p.G130D |
Missense |
1/6 |
- |
1 |
7-119915076-C-A |
c.390C>A |
p.G130= |
Synonymous |
1/6 |
- |
1 |
7-119915076-C-G |
c.390C>G |
p.G130= |
Synonymous |
1/6 |
- |
1 |
7-119915076-C-T |
c.390C>T |
p.G130= |
Synonymous |
1/6 |
- |
1 |
7-119915077-G-A |
c.391G>A |
p.D131N |
Missense |
1/6 |
- |
1 |
7-119915080-TG-GC |
c.394_395delinsGC |
p.C132A |
Missense |
1/6 |
- |
1 |
7-119915082-C-T |
c.396C>T |
p.C132= |
Synonymous |
1/6 |
- |
1 |
7-119915083-TG-GC |
c.397_398delinsGC |
p.C133A |
Missense |
1/6 |
- |
1 |
7-119915086-TAT-GAG |
c.400_402delinsGAG |
p.Y134E |
Missense |
1/6 |
- |
1 |
7-119915089-G-A |
c.403G>A |
p.E135K |
Missense |
1/6 |
- |
1 |
7-119915090-A-G |
c.404A>G |
p.E135G |
Missense |
1/6 |
- |
1 |
7-119915092-G-A |
c.406G>A |
p.E136K |
Missense |
1/6 |
- |
3 |
7-119915092-G-T |
c.406G>T |
p.E136* |
Nonsense |
1/6 |
- |
1 |
7-119915093-A-G |
c.407A>G |
p.E136G |
Missense |
1/6 |
- |
3 |
7-119915095-T-A |
c.409T>A |
p.Y137N |
Missense |
1/6 |
- |
1 |
7-119915096-A-G |
c.410A>G |
p.Y137C |
Missense |
1/6 |
- |
1 |
7-119915099-A-G |
c.413A>G |
p.K138R |
Missense |
1/6 |
- |
1 |
7-119915101-G-A |
c.415G>A |
p.D139N |
Missense |
1/6 |
- |
2 |
7-119915103-T-A |
c.417T>A |
p.D139E |
Missense |
1/6 |
- |
1 |
7-119915103-T-G |
c.417T>G |
p.D139E |
Missense |
1/6 |
- |
1 |
7-119915104-C-G |
c.418C>G |
p.R140G |
Missense |
1/6 |
- |
1 |
7-119915104-C-T |
c.418C>T |
p.R140C |
Missense |
1/6 |
- |
3 |
7-119915105-G-A |
c.419G>A |
p.R140H |
Missense |
1/6 |
- |
5 |
7-119915105-G-T |
c.419G>T |
p.R140L |
Missense |
1/6 |
- |
2 |
7-119915107-A-T |
c.421A>T |
p.R141W |
Missense |
1/6 |
- |
1 |
7-119915108-G-T |
c.422G>T |
p.R141M |
Missense |
1/6 |
- |
1 |
7-119915109-G-C |
c.423G>C |
p.R141S |
Missense |
1/6 |
- |
2 |
7-119915109-G-T |
c.423G>T |
p.R141S |
Missense |
1/6 |
- |
1 |
7-119915110-C-T |
c.424C>T |
p.R142* |
Nonsense |
1/6 |
- |
1 |
7-119915111-G-A |
c.425G>A |
p.R142Q |
Missense |
1/6 |
- |
2 |
7-119915114-A-C |
c.428A>C |
p.E143A |
Missense |
1/6 |
- |
1 |
7-119915115-G-A |
c.429G>A |
p.E143= |
Synonymous |
1/6 |
- |
3 |
7-119915118-C-A |
c.432C>A |
p.N144K |
Missense |
1/6 |
- |
1 |
7-119915118-C-G |
c.432C>G |
p.N144K |
Missense |
1/6 |
- |
1 |
7-119915119-G-T |
c.433G>T |
p.A145S |
Missense |
1/6 |
- |
5 |
7-119915121-C-T |
c.435C>T |
p.A145= |
Synonymous |
1/6 |
- |
1 |
7-119915122-G-A |
c.436G>A |
p.E146K |
Missense |
1/6 |
- |
3 |
7-119915122-G-T |
c.436G>T |
p.E146* |
Nonsense |
1/6 |
- |
3 |
7-119915125-C-G |
c.439C>G |
p.R147G |
Missense |
1/6 |
- |
1 |
7-119915126-G-A |
c.440G>A |
p.R147H |
Missense |
1/6 |
- |
5 |
7-119915126-G-T |
c.440G>T |
p.R147L |
Missense |
1/6 |
- |
1 |
7-119915127-C-G |
c.441C>G |
p.R147= |
Synonymous |
1/6 |
- |
1 |
7-119915129-T-A |
c.443T>A |
p.L148Q |
Missense |
1/6 |
- |
2 |
7-119915133-G-T |
c.447G>T |
p.Q149H |
Missense |
1/6 |
- |
1 |
7-119915135-A-G |
c.449A>G |
p.D150G |
Missense |
1/6 |
- |
1 |
7-119915136-C-T |
c.450C>T |
p.D150= |
Synonymous |
1/6 |
- |
3 |
7-119915137-G-A |
c.451G>A |
p.D151N |
Missense |
1/6 |
- |
1 |
7-119915139-C-T |
c.453C>T |
p.D151= |
Synonymous |
1/6 |
- |
2 |
7-119915140-G-A |
c.454G>A |
p.A152T |
Missense |
1/6 |
- |
6 |
7-119915140-G-C |
c.454G>C |
p.A152P |
Missense |
1/6 |
- |
1 |
7-119915140-G-T |
c.454G>T |
p.A152S |
Missense |
1/6 |
- |
3 |
7-119915141-C-A |
c.455C>A |
p.A152E |
Missense |
1/6 |
- |
2 |
7-119915141-C-T |
c.455C>T |
p.A152V |
Missense |
1/6 |
- |
4 |
7-119915142-G-A |
c.456G>A |
p.A152= |
Synonymous |
1/6 |
- |
3 |
7-119915142-G-C |
c.456G>C |
p.A152= |
Synonymous |
1/6 |
- |
1 |
7-119915142-G-T |
c.456G>T |
p.A152= |
Synonymous |
1/6 |
- |
3 |
7-119915143-G-A |
c.457G>A |
p.D153N |
Missense |
1/6 |
- |
6 |
7-119915147-C-T |
c.461C>T |
p.T154I |
Missense |
1/6 |
- |
5 |
7-119915148-C-A |
c.462C>A |
p.T154= |
Synonymous |
1/6 |
- |
3 |
7-119915148-C-G |
c.462C>G |
p.T154= |
Synonymous |
1/6 |
- |
2 |
7-119915148-C-T |
c.462C>T |
p.T154= |
Synonymous |
1/6 |
- |
2 |
7-119915151-C-A |
c.465C>A |
p.D155E |
Missense |
1/6 |
- |
2 |
7-119915151-C-G |
c.465C>G |
p.D155E |
Missense |
1/6 |
- |
2 |
7-119915153-C-T |
c.467C>T |
p.T156I |
Missense |
1/6 |
- |
3 |
7-119915154-C-A |
c.468C>A |
p.T156= |
Synonymous |
1/6 |
- |
1 |
7-119915154-C-G |
c.468C>G |
p.T156= |
Synonymous |
1/6 |
- |
1 |
7-119915154-C-T |
c.468C>T |
p.T156= |
Synonymous |
1/6 |
- |
2 |
7-119915155-G-A |
c.469G>A |
p.A157T |
Missense |
1/6 |
- |
5 |
7-119915158-G-T |
c.472G>T |
p.G158W |
Missense |
1/6 |
- |
2 |
7-119915159-G-T |
c.473G>T |
p.G158V |
Missense |
1/6 |
- |
4 |
7-119915161-G-A |
c.475G>A |
p.E159K |
Missense |
1/6 |
- |
4 |
7-119915162-A-T |
c.476A>T |
p.E159V |
Missense |
1/6 |
- |
2 |
7-119915162-GA-G |
c.476del |
p.E159Gfs*7 |
Frameshift |
1/6 |
- |
1 |
7-119915164-A-C |
c.478A>C |
p.S160R |
Missense |
1/6 |
- |
2 |
7-119915166-C-A |
c.480C>A |
p.S160R |
Missense |
1/6 |
- |
1 |
7-119915166-C-G |
c.480C>G |
p.S160R |
Missense |
1/6 |
- |
1 |
7-119915167-G-A |
c.481G>A |
p.A161T |
Missense |
1/6 |
- |
1 |
7-119915167-G-C |
c.481G>C |
p.A161P |
Missense |
1/6 |
- |
2 |
7-119915169-C-A |
c.483C>A |
p.A161= |
Synonymous |
1/6 |
- |
2 |
7-119915169-C-G |
c.483C>G |
p.A161= |
Synonymous |
1/6 |
- |
1 |
7-119915169-C-T |
c.483C>T |
p.A161= |
Synonymous |
1/6 |
- |
1 |
7-119915176-A-G |
c.490A>G |
p.T164A |
Missense |
1/6 |
- |
3 |
7-119915177-C-T |
c.491C>T |
p.T164I |
Missense |
1/6 |
- |
2 |
7-119915186-C-T |
c.500C>T |
p.A167V |
Missense |
1/6 |
- |
3 |
7-119915188-AG-TA |
c.502_503delinsTA |
p.R168* |
Nonsense |
1/6 |
- |
1 |
7-119915193-G-C |
c.507G>C |
p.Q169H |
Missense |
1/6 |
- |
4 |
7-119915193-G-T |
c.507G>T |
p.Q169H |
Missense |
1/6 |
- |
2 |
7-119915195-G-A |
c.509G>A |
p.R170K |
Missense |
1/6 |
- |
4 |
7-119915197-G-A |
c.511G>A |
p.V171I |
Missense |
1/6 |
- |
1 |
7-119915200-TG-GC |
c.514_515delinsGC |
p.W172A |
Missense |
1/6 |
- |
1 |
7-119915204-G-A |
c.518G>A |
p.R173K |
Missense |
1/6 |
- |
1 |
7-119915209-T-A |
c.523T>A |
p.F175I |
Missense |
1/6 |
- |
1 |
7-119915211-C-T |
c.525C>T |
p.F175= |
Synonymous |
1/6 |
- |
4 |
7-119915212-G-A |
c.526G>A |
p.E176K |
Missense |
1/6 |
- |
5 |
7-119915214-G-C |
c.528G>C |
p.E176D |
Missense |
1/6 |
- |
1 |
7-119915214-G-T |
c.528G>T |
p.E176D |
Missense |
1/6 |
- |
1 |
7-119915224-A-G |
c.538A>G |
p.T180A |
Missense |
1/6 |
- |
3 |
7-119915227-AG-TT |
c.541_542delinsTT |
p.S181F |
Missense |
1/6 |
- |
1 |
7-119915227-A-T |
c.541A>T |
p.S181C |
Missense |
1/6 |
- |
1 |
7-119915228-G-A |
c.542G>A |
p.S181N |
Missense |
1/6 |
- |
1 |
7-119915228-G-C |
c.542G>C |
p.S181T |
Missense |
1/6 |
- |
1 |
7-119915227-A-C |
c.541A>C |
p.S181R |
Missense |
1/6 |
- |
1 |
7-119915229-C-A |
c.543C>A |
p.S181R |
Missense |
1/6 |
- |
1 |
7-119915229-C-G |
c.543C>G |
p.S181R |
Missense |
1/6 |
- |
1 |
7-119915230-AC-TG |
c.544_545delinsTG |
p.T182W |
Missense |
1/6 |
- |
1 |
7-119915231-C-T |
c.545C>T |
p.T182M |
Missense |
1/6 |
- |
4 |
7-119915232-G-A |
c.546G>A |
p.T182= |
Synonymous |
1/6 |
- |
3 |
7-119915236-G-A |
c.550G>A |
p.A184T |
Missense |
1/6 |
- |
1 |
7-119915238-C-A |
c.552C>A |
p.A184= |
Synonymous |
1/6 |
- |
1 |
7-119915241-G-T |
c.555G>T |
p.L185= |
Synonymous |
1/6 |
- |
1 |
7-119915242-GT-TG |
c.556_557delinsTG |
p.V186W |
Missense |
1/6 |
- |
1 |
7-119915245-T-C |
c.559T>C |
p.F187L |
Missense |
1/6 |
- |
4 |
7-119915245-TT-GC |
c.559_560delinsGC |
p.F187A |
Missense |
1/6 |
- |
1 |
7-119915247-C-A |
c.561C>A |
p.F187L |
Missense |
1/6 |
- |
1 |
7-119915247-C-G |
c.561C>G |
p.F187L |
Missense |
1/6 |
- |
1 |
7-119915249-A-C |
c.563A>C |
p.Y188S |
Missense |
1/6 |
- |
1 |
7-119915250-C-T |
c.564C>T |
p.Y188= |
Synonymous |
1/6 |
- |
3 |
7-119915252-A-G |
c.566A>G |
p.Y189C |
Missense |
1/6 |
- |
2 |
7-119915254-G-A |
c.568G>A |
p.V190I |
Missense |
1/6 |
- |
1 |
7-119915254-GTC-TGG |
c.568_570delinsTGG |
p.V190W |
Missense |
1/6 |
- |
1 |
7-119915255-T-C |
c.569T>C |
p.V190A |
Missense |
1/6 |
- |
2 |
7-119915256-C-A |
c.570C>A |
p.V190= |
Synonymous |
1/6 |
- |
1 |
7-119915256-C-G |
c.570C>G |
p.V190= |
Synonymous |
1/6 |
- |
1 |
7-119915256-C-T |
c.570C>T |
p.V190= |
Synonymous |
1/6 |
- |
1 |
7-119915258-C-T |
c.572C>T |
p.T191M |
Missense |
1/6 |
- |
3 |
7-119915259-G-A |
c.573G>A |
p.T191= |
Synonymous |
1/6 |
- |
3 |
7-119915260-G-A |
c.574G>A |
p.G192R |
Missense |
1/6 |
- |
2 |
7-119915260-G-T |
c.574G>T |
p.G192W |
Missense |
1/6 |
- |
2 |
7-119915261-G-T |
c.575G>T |
p.G192V |
Missense |
1/6 |
- |
2 |
7-119915262-G-A |
c.576G>A |
p.G192= |
Synonymous |
1/6 |
- |
1 |
7-119915262-G-C |
c.576G>C |
p.G192= |
Synonymous |
1/6 |
- |
1 |
7-119915262-G-T |
c.576G>T |
p.G192= |
Synonymous |
1/6 |
- |
2 |
7-119915263-T-G |
c.577T>G |
p.F193V |
Missense |
1/6 |
- |
2 |
7-119915264-T-C |
c.578T>C |
p.F193S |
Missense |
1/6 |
- |
1 |
7-119915266-T-G |
c.580T>G |
p.F194V |
Missense |
1/6 |
- |
1 |
7-119915267-TC-GG |
c.581_582delinsGG |
p.F194W |
Missense |
1/6 |
- |
1 |
7-119915272-G-C |
c.586G>C |
p.A196P |
Missense |
1/6 |
- |
1 |
7-119915274-C-A |
c.588C>A |
p.A196= |
Synonymous |
1/6 |
- |
4 |
7-119915274-C-G |
c.588C>G |
p.A196= |
Synonymous |
1/6 |
- |
3 |
7-119915274-C-T |
c.588C>T |
p.A196= |
Synonymous |
1/6 |
- |
4 |
7-119915275-G-A |
c.589G>A |
p.V197I |
Missense |
1/6 |
- |
2 |
7-119915277-C-A |
c.591C>A |
p.V197= |
Synonymous |
1/6 |
- |
1 |
7-119915277-C-G |
c.591C>G |
p.V197= |
Synonymous |
1/6 |
- |
1 |
7-119915277-C-T |
c.591C>T |
p.V197= |
Synonymous |
1/6 |
- |
1 |
7-119915280-T-A |
c.594T>A |
p.S198= |
Synonymous |
1/6 |
- |
1 |
7-119915281-G-A |
c.595G>A |
p.V199I |
Missense |
1/6 |
- |
1 |
7-119915286-C-T |
c.600C>T |
p.I200= |
Synonymous |
1/6 |
- |
2 |
7-119915287-G-A |
c.601G>A |
p.A201T |
Missense |
1/6 |
- |
7 |
7-119915287-G-T |
c.601G>T |
p.A201S |
Missense |
1/6 |
- |
1 |
7-119915288-C-T |
c.602C>T |
p.A201V |
Missense |
1/6 |
- |
2 |
7-119915289-G-A |
c.603G>A |
p.A201= |
Synonymous |
1/6 |
- |
2 |
7-119915291-A-T |
c.605A>T |
p.N202I |
Missense |
1/6 |
- |
2 |
7-119915292-T-A |
c.606T>A |
p.N202K |
Missense |
1/6 |
- |
2 |
7-119915292-T-G |
c.606T>G |
p.N202K |
Missense |
1/6 |
- |
1 |
7-119915293-G-A |
c.607G>A |
p.V203M |
Missense |
1/6 |
- |
1 |
7-119915298-G-A |
c.612G>A |
p.V204= |
Synonymous |
1/6 |
- |
1 |
7-119915299-G-A |
c.613G>A |
p.E205K |
Missense |
1/6 |
- |
2 |
7-119915301-A-C |
c.615A>C |
p.E205D |
Missense |
1/6 |
- |
1 |
7-119915304-A-C |
c.618A>C |
p.T206= |
Synonymous |
1/6 |
- |
1 |
7-119915304-A-G |
c.618A>G |
p.T206= |
Synonymous |
1/6 |
- |
2 |
7-119915304-A-T |
c.618A>T |
p.T206= |
Synonymous |
1/6 |
- |
1 |
7-119915308-C-T |
c.622C>T |
p.P208S |
Missense |
1/6 |
- |
2 |
7-119915309-C-A |
c.623C>A |
p.P208Q |
Missense |
1/6 |
- |
2 |
7-119915309-C-T |
c.623C>T |
p.P208L |
Missense |
1/6 |
- |
2 |
7-119915310-G-A |
c.624G>A |
p.P208= |
Synonymous |
1/6 |
- |
2 |
7-119915310-G-C |
c.624G>C |
p.P208= |
Synonymous |
1/6 |
- |
1 |
7-119915310-G-T |
c.624G>T |
p.P208= |
Synonymous |
1/6 |
- |
1 |
7-119915311-T-A |
c.625T>A |
p.C209S |
Missense |
1/6 |
- |
1 |
7-119915311-TG-GC |
c.625_626delinsGC |
p.C209A |
Missense |
1/6 |
- |
1 |
7-119915314-G-A |
c.628G>A |
p.G210R |
Missense |
1/6 |
- |
5 |
7-119915314-G-C |
c.628G>C |
p.G210R |
Missense |
1/6 |
- |
3 |
7-119915317-T-A |
c.631T>A |
p.S211T |
Missense |
1/6 |
- |
3 |
7-119915318-C-G |
c.632C>G |
p.S211* |
Nonsense |
1/6 |
- |
1 |
7-119915318-C-T |
c.632C>T |
p.S211L |
Missense |
1/6 |
- |
2 |
7-119915320-A-C |
c.634A>C |
p.S212R |
Missense |
1/6 |
- |
1 |
7-119915322-C-A |
c.636C>A |
p.S212R |
Missense |
1/6 |
- |
1 |
7-119915322-C-G |
c.636C>G |
p.S212R |
Missense |
1/6 |
- |
1 |
7-119915323-C-A |
c.637C>A |
p.P213T |
Missense |
1/6 |
- |
1 |
7-119915329-C-A |
c.643C>A |
p.H215N |
Missense |
1/6 |
- |
1 |
7-119915331-C-G |
c.645C>G |
p.H215Q |
Missense |
1/6 |
- |
1 |
7-119915331-C-T |
c.645C>T |
p.H215= |
Synonymous |
1/6 |
- |
1 |
7-119915332-A-G |
c.646A>G |
p.I216V |
Missense |
1/6 |
- |
1 |
7-119915334-T-G |
c.648T>G |
p.I216M |
Missense |
1/6 |
- |
1 |
7-119915335-A-G |
c.649A>G |
p.K217E |
Missense |
1/6 |
- |
2 |
7-119915335-TAAA-T |
c.649_651del |
p.K217del |
InFrameDeletion |
1/6 |
- |
2 |
7-119915337-A-C |
c.651A>C |
p.K217N |
Missense |
1/6 |
- |
1 |
7-119915337-A-T |
c.651A>T |
p.K217N |
Missense |
1/6 |
- |
1 |
7-119915338-G-T |
c.652G>T |
p.E218* |
Nonsense |
1/6 |
- |
1 |
7-119915341-C-T |
c.655C>T |
p.L219= |
Synonymous |
1/6 |
- |
1 |
7-119915343-G-T |
c.657G>T |
p.L219= |
Synonymous |
1/6 |
- |
1 |
7-119915346-C-T |
c.660C>T |
p.P220= |
Synonymous |
1/6 |
- |
3 |
7-119915347-TG-GC |
c.661_662delinsGC |
p.C221A |
Missense |
1/6 |
- |
1 |
7-119915348-G-T |
c.662G>T |
p.C221F |
Missense |
1/6 |
- |
1 |
7-119915351-G-A |
c.665G>A |
p.G222E |
Missense |
1/6 |
- |
2 |
7-119915351-G-C |
c.665G>C |
p.G222A |
Missense |
1/6 |
- |
1 |
7-119915354-A-T |
c.668A>T |
p.E223V |
Missense |
1/6 |
- |
1 |
7-119915355-G-C |
c.669G>C |
p.E223D |
Missense |
1/6 |
- |
2 |
7-119915355-G-T |
c.669G>T |
p.E223D |
Missense |
1/6 |
- |
3 |
7-119915356-C-A |
c.670C>A |
p.R224= |
Synonymous |
1/6 |
- |
1 |
7-119915356-CG-TA |
c.670_671delinsTA |
p.R224* |
Nonsense |
1/6 |
- |
1 |
7-119915356-C-T |
c.670C>T |
p.R224W |
Missense |
1/6 |
- |
5 |
7-119915358-G-A |
c.672G>A |
p.R224= |
Synonymous |
1/6 |
- |
1 |
7-119915358-G-C |
c.672G>C |
p.R224= |
Synonymous |
1/6 |
- |
1 |
7-119915358-G-T |
c.672G>T |
p.R224= |
Synonymous |
1/6 |
- |
1 |
7-119915360-A-G |
c.674A>G |
p.Y225C |
Missense |
1/6 |
- |
7 |
7-119915363-C-T |
c.677C>T |
p.A226V |
Missense |
1/6 |
- |
4 |
7-119915363-CTG-C |
c.680_681del |
p.V227Gfs*16 |
Frameshift |
1/6 |
- |
1 |
7-119915368-GCC-TGG |
c.682_684delinsTGG |
p.A228W |
Missense |
1/6 |
- |
1 |
7-119915370-C-T |
c.684C>T |
p.A228= |
Synonymous |
1/6 |
- |
4 |
7-119915373-C-T |
c.687C>T |
p.F229= |
Synonymous |
1/6 |
- |
2 |
7-119915374-T-C |
c.688T>C |
p.F230L |
Missense |
1/6 |
- |
3 |
7-119915374-T-G |
c.688T>G |
p.F230V |
Missense |
1/6 |
- |
1 |
7-119915369-CCTT-C |
c.689_691del |
p.F230del |
InFrameDeletion |
1/6 |
- |
1 |
7-119915377-T-C |
c.691T>C |
p.C231R |
Missense |
1/6 |
- |
1 |
7-119915377-TG-GC |
c.691_692delinsGC |
p.C231A |
Missense |
1/6 |
- |
1 |
7-119915379-C-A |
c.693C>A |
p.C231* |
Nonsense |
1/6 |
- |
1 |
7-119915379-C-G |
c.693C>G |
p.C231W |
Missense |
1/6 |
- |
1 |
7-119915382-G-A |
c.696G>A |
p.L232= |
Synonymous |
1/6 |
- |
2 |
7-119915383-G-A |
c.697G>A |
p.D233N |
Missense |
1/6 |
- |
3 |
7-119915384-A-G |
c.698A>G |
p.D233G |
Missense |
1/6 |
- |
1 |
7-119915385-C-T |
c.699C>T |
p.D233= |
Synonymous |
1/6 |
- |
1 |
7-119915386-A-G |
c.700A>G |
p.T234A |
Missense |
1/6 |
- |
1 |
7-119915387-C-T |
c.701C>T |
p.T234M |
Missense |
1/6 |
- |
5 |
7-119915388-G-A |
c.702G>A |
p.T234= |
Synonymous |
1/6 |
- |
3 |
7-119915388-G-C |
c.702G>C |
p.T234= |
Synonymous |
1/6 |
- |
2 |
7-119915388-G-T |
c.702G>T |
p.T234= |
Synonymous |
1/6 |
- |
3 |
7-119915389-GCC-TGG |
c.703_705delinsTGG |
p.A235W |
Missense |
1/6 |
- |
1 |
7-119915389-G-T |
c.703G>T |
p.A235S |
Missense |
1/6 |
- |
1 |
7-119915390-C-G |
c.704C>G |
p.A235G |
Missense |
1/6 |
- |
1 |
7-119915392-TG-GC |
c.706_707delinsGC |
p.C236A |
Missense |
1/6 |
- |
1 |
7-119915394-C-A |
c.708C>A |
p.C236* |
Nonsense |
1/6 |
- |
3 |
7-119915394-C-T |
c.708C>T |
p.C236= |
Synonymous |
1/6 |
- |
6 |
7-119915395-G-A |
c.709G>A |
p.V237I |
Missense |
1/6 |
- |
2 |
7-119915396-T-C |
c.710T>C |
p.V237A |
Missense |
1/6 |
- |
1 |
7-119915400-G-A |
c.714G>A |
p.M238I |
Missense |
1/6 |
- |
8 |
7-119915400-G-C |
c.714G>C |
p.M238I |
Missense |
1/6 |
- |
2 |
7-119915400-G-T |
c.714G>T |
p.M238I |
Missense |
1/6 |
- |
5 |
7-119915409-A-G |
c.723A>G |
p.T241= |
Synonymous |
1/6 |
- |
2 |
7-119915413-G-T |
c.727G>T |
p.E243* |
Nonsense |
1/6 |
- |
1 |
7-119915414-A-T |
c.728A>T |
p.E243V |
Missense |
1/6 |
- |
1 |
7-119915416-T-C |
c.730T>C |
p.Y244H |
Missense |
1/6 |
- |
1 |
7-119915418-T-C |
c.732T>C |
p.Y244= |
Synonymous |
1/6 |
- |
1 |
7-119915425-C-T |
c.739C>T |
p.R247C |
Missense |
1/6 |
- |
9 |
7-119915426-G-A |
c.740G>A |
p.R247H |
Missense |
1/6 |
- |
5 |
7-119915428-C-A |
c.742C>A |
p.L248M |
Missense |
1/6 |
- |
1 |
7-119915428-C-T |
c.742C>T |
p.L248= |
Synonymous |
1/6 |
- |
1 |
7-119915430-G-A |
c.744G>A |
p.L248= |
Synonymous |
1/6 |
- |
1 |
7-119915430-G-C |
c.744G>C |
p.L248= |
Synonymous |
1/6 |
- |
1 |
7-119915430-G-T |
c.744G>T |
p.L248= |
Synonymous |
1/6 |
- |
1 |
7-119915431-G-T |
c.745G>T |
p.A249S |
Missense |
1/6 |
- |
3 |
7-119915432-C-A |
c.746C>A |
p.A249D |
Missense |
1/6 |
- |
1 |
7-119915432-C-T |
c.746C>T |
p.A249V |
Missense |
1/6 |
- |
3 |
7-119915437-G-A |
c.751G>A |
p.A251T |
Missense |
1/6 |
- |
1 |
7-119915437-G-T |
c.751G>T |
p.A251S |
Missense |
1/6 |
- |
2 |
7-119915438-C-G |
c.752C>G |
p.A251G |
Missense |
1/6 |
- |
1 |
7-119915438-C-T |
c.752C>T |
p.A251V |
Missense |
1/6 |
- |
1 |
7-119915439-G-A |
c.753G>A |
p.A251= |
Synonymous |
1/6 |
- |
10 |
7-119915439-G-C |
c.753G>C |
p.A251= |
Synonymous |
1/6 |
- |
5 |
7-119915439-G-T |
c.753G>T |
p.A251= |
Synonymous |
1/6 |
- |
5 |
7-119915440-C-T |
c.754C>T |
p.P252S |
Missense |
1/6 |
- |
2 |
7-119915441-C-A |
c.755C>A |
p.P252H |
Missense |
1/6 |
- |
1 |
7-119915441-C-T |
c.755C>T |
p.P252L |
Missense |
1/6 |
- |
1 |
7-119915443-AG-TT |
c.757_758delinsTT |
p.S253F |
Missense |
1/6 |
- |
1 |
7-119915446-C-T |
c.760C>T |
p.R254C |
Missense |
1/6 |
- |
2 |
7-119915447-G-A |
c.761G>A |
p.R254H |
Missense |
1/6 |
- |
5 |
7-119915453-G-C |
c.767G>C |
p.R256P |
Missense |
1/6 |
- |
1 |
7-119915453-GT-AA |
c.767_768delinsAA |
p.R256Q |
Missense |
1/6 |
- |
1 |
7-119915454-T-A |
c.768T>A |
p.R256= |
Synonymous |
1/6 |
- |
1 |
7-119915461-C-T |
c.775C>T |
p.R259C |
Missense |
1/6 |
- |
3 |
7-119915462-G-A |
c.776G>A |
p.R259H |
Missense |
1/6 |
- |
5 |
7-119915462-GT-AA |
c.776_777delinsAA |
p.R259Q |
Missense |
1/6 |
- |
1 |
7-119915465-G-A |
c.779G>A |
p.S260N |
Missense |
1/6 |
- |
1 |
7-119915464-A-C |
c.778A>C |
p.S260R |
Missense |
1/6 |
- |
1 |
7-119915466-T-A |
c.780T>A |
p.S260R |
Missense |
1/6 |
- |
2 |
7-119915466-T-G |
c.780T>G |
p.S260R |
Missense |
1/6 |
- |
1 |
7-119915467-G-A |
c.781G>A |
p.V261I |
Missense |
1/6 |
- |
1 |
7-119915467-G-T |
c.781G>T |
p.V261F |
Missense |
1/6 |
- |
1 |
7-119915467-GT-AC |
c.781_782inv |
p.V261T |
Missense |
1/6 |
- |
1 |
7-119915467-GTC-ATG |
c.781_783delinsATG |
p.V261M |
Missense |
1/6 |
- |
2 |
7-119915472-G-A |
c.786G>A |
p.M262I |
Missense |
1/6 |
- |
3 |
7-119915472-G-C |
c.786G>C |
p.M262I |
Missense |
1/6 |
- |
5 |
7-119915472-G-T |
c.786G>T |
p.M262I |
Missense |
1/6 |
- |
3 |
7-119915475-T-C |
c.789T>C |
p.S263= |
Synonymous |
1/6 |
- |
1 |
7-119915481-C-T |
c.795C>T |
p.I265= |
Synonymous |
1/6 |
- |
3 |
7-119915482-G-A |
c.796G>A |
p.D266N |
Missense |
1/6 |
- |
7 |
7-119915484-C-A |
c.798C>A |
p.D266E |
Missense |
1/6 |
- |
4 |
7-119915484-C-G |
c.798C>G |
p.D266E |
Missense |
1/6 |
- |
2 |
7-119915484-C-T |
c.798C>T |
p.D266= |
Synonymous |
1/6 |
- |
1 |
7-119915485-G-A |
c.799G>A |
p.V267M |
Missense |
1/6 |
- |
4 |
7-119915485-G-C |
c.799G>C |
p.V267L |
Missense |
1/6 |
- |
1 |
7-119915485-G-T |
c.799G>T |
p.V267L |
Missense |
1/6 |
- |
1 |
7-119915488-G-T |
c.802G>T |
p.V268L |
Missense |
1/6 |
- |
1 |
7-119915491-G-T |
c.805G>T |
p.A269S |
Missense |
1/6 |
- |
2 |
7-119915492-C-A |
c.806C>A |
p.A269D |
Missense |
1/6 |
- |
1 |
7-119915493-C-A |
c.807C>A |
p.A269= |
Synonymous |
1/6 |
- |
1 |
7-119915497-C-A |
c.811C>A |
p.L271M |
Missense |
1/6 |
- |
1 |
7-119915497-C-T |
c.811C>T |
p.L271= |
Synonymous |
1/6 |
- |
2 |
7-119915499-G-A |
c.813G>A |
p.L271= |
Synonymous |
1/6 |
- |
2 |
7-119915499-G-C |
c.813G>C |
p.L271= |
Synonymous |
1/6 |
- |
2 |
7-119915499-G-T |
c.813G>T |
p.L271= |
Synonymous |
1/6 |
- |
3 |
7-119915501-C-T |
c.815C>T |
p.P272L |
Missense |
1/6 |
- |
1 |
7-119915504-A-T |
c.818A>T |
p.Y273F |
Missense |
1/6 |
- |
1 |
7-119915506-T-A |
c.820T>A |
p.Y274N |
Missense |
1/6 |
- |
1 |
7-119915508-C-A |
c.822C>A |
p.Y274* |
Nonsense |
1/6 |
- |
1 |
7-119915509-AT-GC |
c.823_824delinsGC |
p.I275A |
Missense |
1/6 |
- |
1 |
7-119915513-G-A |
c.827G>A |
p.G276E |
Missense |
1/6 |
- |
1 |
7-119915515-C-G |
c.829C>G |
p.L277V |
Missense |
1/6 |
- |
1 |
7-119915515-CT-GC |
c.829_830delinsGC |
p.L277A |
Missense |
1/6 |
- |
1 |
7-119915517-G-C |
c.831G>C |
p.L277= |
Synonymous |
1/6 |
- |
1 |
7-119915522-T-C |
c.836T>C |
p.M279T |
Missense |
1/6 |
- |
1 |
7-119915524-A-C |
c.838A>C |
p.T280P |
Missense |
1/6 |
- |
1 |
7-119915524-A-G |
c.838A>G |
p.T280A |
Missense |
1/6 |
- |
2 |
7-119915527-G-T |
c.841G>T |
p.D281Y |
Missense |
1/6 |
- |
1 |
7-119915529-C-A |
c.843C>A |
p.D281E |
Missense |
1/6 |
- |
1 |
7-119915529-C-G |
c.843C>G |
p.D281E |
Missense |
1/6 |
- |
1 |
7-119915529-C-T |
c.843C>T |
p.D281= |
Synonymous |
1/6 |
- |
4 |
7-119915530-A-C |
c.844A>C |
p.N282H |
Missense |
1/6 |
- |
3 |
7-119915535-G-A |
c.849G>A |
p.E283= |
Synonymous |
1/6 |
- |
1 |
7-119915536-G-A |
c.850G>A |
p.D284N |
Missense |
1/6 |
- |
5 |
7-119915538-C-A |
c.852C>A |
p.D284E |
Missense |
1/6 |
- |
1 |
7-119915538-C-T |
c.852C>T |
p.D284= |
Synonymous |
1/6 |
- |
3 |
7-119915539-G-A |
c.853G>A |
p.V285I |
Missense |
1/6 |
- |
3 |
7-119915540-T-C |
c.854T>C |
p.V285A |
Missense |
1/6 |
- |
1 |
7-119915541-C-G |
c.855C>G |
p.V285= |
Synonymous |
1/6 |
- |
1 |
7-119915545-G-T |
c.859G>T |
p.G287* |
Nonsense |
1/6 |
- |
1 |
7-119915546-G-A |
c.860G>A |
p.G287E |
Missense |
1/6 |
- |
4 |
7-119915550-C-G |
c.864C>G |
p.A288= |
Synonymous |
1/6 |
- |
2 |
7-119915551-TT-GC |
c.865_866delinsGC |
p.F289A |
Missense |
1/6 |
- |
1 |
7-119915554-G-T |
c.868G>T |
p.V290F |
Missense |
1/6 |
- |
2 |
7-119915555-T-C |
c.869T>C |
p.V290A |
Missense |
1/6 |
- |
1 |
7-119915556-C-A |
c.870C>A |
p.V290= |
Synonymous |
1/6 |
- |
2 |
7-119915556-C-G |
c.870C>G |
p.V290= |
Synonymous |
1/6 |
- |
1 |
7-119915556-C-T |
c.870C>T |
p.V290= |
Synonymous |
1/6 |
- |
1 |
7-119915562-C-A |
c.876C>A |
p.L292= |
Synonymous |
1/6 |
- |
1 |
7-119915562-C-G |
c.876C>G |
p.L292= |
Synonymous |
1/6 |
- |
1 |
7-119915562-C-T |
c.876C>T |
p.L292= |
Synonymous |
1/6 |
- |
2 |
7-119915563-C-T |
c.877C>T |
p.R293* |
Nonsense |
1/6 |
- |
3 |
7-119915564-G-A |
c.878G>A |
p.R293Q |
Missense |
1/6 |
- |
2 |
7-119915564-G-T |
c.878G>T |
p.R293L |
Missense |
1/6 |
- |
2 |
7-119915568-C-G |
c.882C>G |
p.V294= |
Synonymous |
1/6 |
- |
1 |
7-119915571-C-A |
c.885C>A |
p.F295L |
Missense |
1/6 |
- |
1 |
7-119915571-C-T |
c.885C>T |
p.F295= |
Synonymous |
1/6 |
- |
6 |
7-119915572-CGG-TGT |
c.886_888delinsTGT |
p.R296C |
Missense |
1/6 |
- |
1 |
7-119915572-C-T |
c.886C>T |
p.R296W |
Missense |
1/6 |
- |
6 |
7-119915573-G-T |
c.887G>T |
p.R296L |
Missense |
1/6 |
- |
1 |
7-119915575-G-A |
c.889G>A |
p.V297I |
Missense |
1/6 |
- |
1 |
7-119915577-C-A |
c.891C>A |
p.V297= |
Synonymous |
1/6 |
- |
1 |
7-119915577-C-G |
c.891C>G |
p.V297= |
Synonymous |
1/6 |
- |
1 |
7-119915577-C-T |
c.891C>T |
p.V297= |
Synonymous |
1/6 |
- |
1 |
7-119915580-C-T |
c.894C>T |
p.F298= |
Synonymous |
1/6 |
- |
1 |
7-119915583-G-A |
c.897G>A |
p.R299= |
Synonymous |
1/6 |
- |
2 |
7-119915589-T-C |
c.903T>C |
p.F301= |
Synonymous |
1/6 |
- |
2 |
7-119915591-A-C |
c.905A>C |
p.K302T |
Missense |
1/6 |
- |
1 |
7-119915592-G-C |
c.906G>C |
p.K302N |
Missense |
1/6 |
- |
1 |
7-119915592-G-T |
c.906G>T |
p.K302N |
Missense |
1/6 |
- |
1 |
7-119915594-T-C |
c.908T>C |
p.F303S |
Missense |
1/6 |
- |
1 |
7-119915597-C-T |
c.911C>T |
p.S304F |
Missense |
1/6 |
- |
6 |
7-119915598-C-A |
c.912C>A |
p.S304= |
Synonymous |
1/6 |
- |
2 |
7-119915598-C-G |
c.912C>G |
p.S304= |
Synonymous |
1/6 |
- |
1 |
7-119915598-C-T |
c.912C>T |
p.S304= |
Synonymous |
1/6 |
- |
2 |
7-119915596-T-TC |
c.913dup |
p.R305Pfs*48 |
Frameshift |
1/6 |
- |
2 |
7-119915599-C-T |
c.913C>T |
p.R305C |
Missense |
1/6 |
- |
4 |
7-119915600-G-A |
c.914G>A |
p.R305H |
Missense |
1/6 |
- |
7 |
7-119915600-G-T |
c.914G>T |
p.R305L |
Missense |
1/6 |
- |
2 |
7-119915607-T-A |
c.921T>A |
p.S307= |
Synonymous |
1/6 |
- |
1 |
7-119915612-G-C |
c.926G>C |
p.G309A |
Missense |
1/6 |
- |
2 |
7-119915612-G-T |
c.926G>T |
p.G309V |
Missense |
1/6 |
- |
9 |
7-119915614-CT-GC |
c.928_929delinsGC |
p.L310A |
Missense |
1/6 |
- |
1 |
7-119915615-T-A |
c.929T>A |
p.L310Q |
Missense |
1/6 |
- |
2 |
7-119915617-C-G |
c.931C>G |
p.R311G |
Missense |
1/6 |
- |
1 |
7-119915617-CG-GC |
c.931_932delinsGC |
p.R311A |
Missense |
1/6 |
- |
2 |
7-119915617-C-T |
c.931C>T |
p.R311C |
Missense |
1/6 |
- |
1 |
7-119915618-G-A |
c.932G>A |
p.R311H |
Missense |
1/6 |
- |
6 |
7-119915618-GC-AA |
c.932_933delinsAA |
p.R311Q |
Missense |
1/6 |
- |
1 |
7-119915620-A-T |
c.934A>T |
p.I312F |
Missense |
1/6 |
- |
1 |
7-119915620-AT-GC |
c.934_935delinsGC |
p.I312A |
Missense |
1/6 |
- |
1 |
7-119915622-C-T |
c.936C>T |
p.I312= |
Synonymous |
1/6 |
- |
3 |
7-119915623-CT-GC |
c.937_938delinsGC |
p.L313A |
Missense |
1/6 |
- |
2 |
7-119915623-CTG-TTT |
c.937_939delinsTTT |
p.L313F |
Missense |
1/6 |
- |
1 |
7-119915623-C-T |
c.937C>T |
p.L313= |
Synonymous |
1/6 |
- |
1 |
7-119915625-G-A |
c.939G>A |
p.L313= |
Synonymous |
1/6 |
- |
2 |
7-119915625-G-C |
c.939G>C |
p.L313= |
Synonymous |
1/6 |
- |
1 |
7-119915625-G-T |
c.939G>T |
p.L313= |
Synonymous |
1/6 |
- |
1 |
7-119915626-GGG-TTT |
c.940_942delinsTTT |
p.G314F |
Missense |
1/6 |
- |
1 |
7-119915627-G-C |
c.941G>C |
p.G314A |
Missense |
1/6 |
- |
1 |
7-119915624-T-TG |
c.942dup |
p.Y315Vfs*38 |
Frameshift |
1/6 |
- |
2 |
7-119915628-G-T |
c.942G>T |
p.G314= |
Synonymous |
1/6 |
- |
1 |
7-119915629-TA-GC |
c.943_944delinsGC |
p.Y315A |
Missense |
1/6 |
- |
1 |
7-119915629-T-C |
c.943T>C |
p.Y315H |
Missense |
1/6 |
- |
2 |
7-119915632-A-G |
c.946A>G |
p.T316A |
Missense |
1/6 |
- |
1 |
7-119915633-C-A |
c.947C>A |
p.T316K |
Missense |
1/6 |
- |
1 |
7-119915634-A-G |
c.948A>G |
p.T316= |
Synonymous |
1/6 |
- |
1 |
7-119915635-CT-GC |
c.949_950delinsGC |
p.L317A |
Missense |
1/6 |
- |
1 |
7-119915635-C-T |
c.949C>T |
p.L317= |
Synonymous |
1/6 |
- |
1 |
7-119915637-G-A |
c.951G>A |
p.L317= |
Synonymous |
1/6 |
- |
1 |
7-119915638-AA-GC |
c.952_953delinsGC |
p.K318A |
Missense |
1/6 |
- |
1 |
7-119915638-AAG-GAC |
c.952_954delinsGAC |
p.K318D |
Missense |
1/6 |
- |
1 |
7-119915638-A-C |
c.952A>C |
p.K318Q |
Missense |
1/6 |
- |
1 |
7-119915638-A-G |
c.952A>G |
p.K318E |
Missense |
1/6 |
- |
1 |
7-119915639-A-G |
c.953A>G |
p.K318R |
Missense |
1/6 |
- |
1 |
7-119915641-AG-GC |
c.955_956delinsGC |
p.S319A |
Missense |
1/6 |
- |
1 |
7-119915642-G-A |
c.956G>A |
p.S319N |
Missense |
1/6 |
- |
2 |
7-119915644-T-A |
c.958T>A |
p.C320S |
Missense |
1/6 |
- |
1 |
7-119915644-TG-GC |
c.958_959delinsGC |
p.C320A |
Missense |
1/6 |
- |
3 |
7-119915645-G-C |
c.959G>C |
p.C320S |
Missense |
1/6 |
- |
1 |
7-119915648-C-G |
c.962C>G |
p.A321G |
Missense |
1/6 |
- |
3 |
7-119915648-C-T |
c.962C>T |
p.A321V |
Missense |
1/6 |
- |
1 |
7-119915650-T-G |
c.964T>G |
p.S322A |
Missense |
1/6 |
- |
2 |
7-119915653-G-A |
c.967G>A |
p.E323K |
Missense |
1/6 |
- |
3 |
7-119915653-GAA-TGT |
c.967_969delinsTGT |
p.E323C |
Missense |
1/6 |
- |
3 |
7-119915653-G-T |
c.967G>T |
p.E323* |
Nonsense |
1/6 |
- |
6 |
7-119915654-A-C |
c.968A>C |
p.E323A |
Missense |
1/6 |
- |
2 |
7-119915655-A-C |
c.969A>C |
p.E323D |
Missense |
1/6 |
- |
1 |
7-119915655-A-T |
c.969A>T |
p.E323D |
Missense |
1/6 |
- |
1 |
7-119915656-T-C |
c.970T>C |
p.L324= |
Synonymous |
1/6 |
- |
1 |
7-119915656-TT-GC |
c.970_971delinsGC |
p.L324A |
Missense |
1/6 |
- |
1 |
7-119915658-G-A |
c.972G>A |
p.L324= |
Synonymous |
1/6 |
- |
2 |
7-119915658-G-C |
c.972G>C |
p.L324F |
Missense |
1/6 |
- |
1 |
7-119915660-G-C |
c.974G>C |
p.G325A |
Missense |
1/6 |
- |
1 |
7-119915662-T-C |
c.976T>C |
p.F326L |
Missense |
1/6 |
- |
2 |
7-119915662-TT-GC |
c.976_977delinsGC |
p.F326A |
Missense |
1/6 |
- |
2 |
7-119915664-C-G |
c.978C>G |
p.F326L |
Missense |
1/6 |
- |
2 |
7-119915664-C-A |
c.978C>A |
p.F326L |
Missense |
1/6 |
- |
3 |
7-119915665-TTG-ATC |
c.979_981delinsATC |
p.L327I |
Missense |
1/6 |
- |
1 |
7-119915665-TT-GC |
c.979_980delinsGC |
p.L327A |
Missense |
1/6 |
- |
1 |
7-119915666-TG-GT |
c.980_981delinsGT |
p.L327C |
Missense |
1/6 |
- |
1 |
7-119915668-CT-GC |
c.982_983delinsGC |
p.L328A |
Missense |
1/6 |
- |
1 |
7-119915671-TT-GC |
c.985_986delinsGC |
p.F329A |
Missense |
1/6 |
- |
1 |
7-119915673-C-A |
c.987C>A |
p.F329L |
Missense |
1/6 |
- |
1 |
7-119915674-TCG-GAC |
c.988_990delinsGAC |
p.S330D |
Missense |
1/6 |
- |
1 |
7-119915674-T-G |
c.988T>G |
p.S330A |
Missense |
1/6 |
- |
1 |
7-119915675-C-T |
c.989C>T |
p.S330L |
Missense |
1/6 |
- |
3 |
7-119915678-TC-AA |
c.992_993delinsAA |
p.L331Q |
Missense |
1/6 |
- |
1 |
7-119915681-C-T |
c.995C>T |
p.T332I |
Missense |
1/6 |
- |
3 |
7-119915682-C-A |
c.996C>A |
p.T332= |
Synonymous |
1/6 |
- |
1 |
7-119915682-C-G |
c.996C>G |
p.T332= |
Synonymous |
1/6 |
- |
1 |
7-119915682-C-T |
c.996C>T |
p.T332= |
Synonymous |
1/6 |
- |
1 |
7-119915684-T-A |
c.998T>A |
p.M333K |
Missense |
1/6 |
- |
1 |
7-119915685-G-A |
c.999G>A |
p.M333I |
Missense |
1/6 |
- |
1 |
7-119915685-G-C |
c.999G>C |
p.M333I |
Missense |
1/6 |
- |
1 |
7-119915685-G-T |
c.999G>T |
p.M333I |
Missense |
1/6 |
- |
1 |
7-119915691-C-T |
c.1005C>T |
p.I335= |
Synonymous |
1/6 |
- |
2 |
7-119915694-C-T |
c.1008C>T |
p.I336= |
Synonymous |
1/6 |
- |
2 |
7-119915695-A-G |
c.1009A>G |
p.I337V |
Missense |
1/6 |
- |
1 |
7-119915700-C-T |
c.1014C>T |
p.F338= |
Synonymous |
1/6 |
- |
5 |
7-119915701-G-A |
c.1015G>A |
p.A339T |
Missense |
1/6 |
- |
3 |
7-119915703-T-A |
c.1017T>A |
p.A339= |
Synonymous |
1/6 |
- |
1 |
7-119915703-T-C |
c.1017T>C |
p.A339= |
Synonymous |
1/6 |
- |
1 |
7-119915703-T-G |
c.1017T>G |
p.A339= |
Synonymous |
1/6 |
- |
1 |
7-119915718-C-A |
c.1032C>A |
p.Y344* |
Nonsense |
1/6 |
- |
1 |
7-119915718-C-T |
c.1032C>T |
p.Y344= |
Synonymous |
1/6 |
- |
3 |
7-119915719-G-A |
c.1033G>A |
p.A345T |
Missense |
1/6 |
- |
4 |
7-119915720-C-CA |
c.1035dup |
p.E346Rfs*7 |
Frameshift |
1/6 |
- |
1 |
7-119915722-G-C |
c.1036G>C |
p.E346Q |
Missense |
1/6 |
- |
1 |
7-119915722-G-T |
c.1036G>T |
p.E346* |
Nonsense |
1/6 |
- |
3 |
7-119915724-G-C |
c.1038G>C |
p.E346D |
Missense |
1/6 |
- |
3 |
7-119915724-G-T |
c.1038G>T |
p.E346D |
Missense |
1/6 |
- |
3 |
7-119915725-AA-GC |
c.1039_1040delinsGC |
p.K347A |
Missense |
1/6 |
- |
1 |
7-119915726-A-T |
c.1040A>T |
p.K347M |
Missense |
1/6 |
- |
2 |
7-119915728-G-A |
c.1042G>A |
p.G348R |
Missense |
1/6 |
- |
7 |
7-119915728-G-C |
c.1042G>C |
p.G348R |
Missense |
1/6 |
- |
2 |
7-119915729-G-T |
c.1043G>T |
p.G348V |
Missense |
1/6 |
- |
2 |
7-119915732-C-A |
c.1046C>A |
p.S349Y |
Missense |
1/6 |
- |
1 |
7-119915732-C-T |
c.1046C>T |
p.S349F |
Missense |
1/6 |
- |
4 |
7-119915733-T-A |
c.1047T>A |
p.S349= |
Synonymous |
1/6 |
- |
1 |
7-119915733-T-C |
c.1047T>C |
p.S349= |
Synonymous |
1/6 |
- |
1 |
7-119915733-T-G |
c.1047T>G |
p.S349= |
Synonymous |
1/6 |
- |
1 |
7-119915735-C-T |
c.1049C>T |
p.S350L |
Missense |
1/6 |
- |
9 |
7-119915736-G-A |
c.1050G>A |
p.S350= |
Synonymous |
1/6 |
- |
2 |
7-119915736-G-C |
c.1050G>C |
p.S350= |
Synonymous |
1/6 |
- |
1 |
7-119915736-G-T |
c.1050G>T |
p.S350= |
Synonymous |
1/6 |
- |
1 |
7-119915738-C-T |
c.1052C>T |
p.A351V |
Missense |
1/6 |
- |
1 |
7-119915740-AG-TA |
c.1054_1055delinsTA |
p.S352Y |
Missense |
1/6 |
- |
1 |
7-119915740-AG-TT |
c.1054_1055delinsTT |
p.S352F |
Missense |
1/6 |
- |
1 |
7-119915741-G-C |
c.1055G>C |
p.S352T |
Missense |
1/6 |
- |
2 |
7-119915743-AA-GG |
c.1057_1058delinsGG |
p.K353G |
Missense |
1/6 |
- |
1 |
7-119915745-G-T |
c.1059G>T |
p.K353N |
Missense |
1/6 |
- |
1 |
7-119915752-AG-GA |
c.1066_1067delinsGA |
p.S356D |
Missense |
1/6 |
- |
1 |
7-119915752-AG-GC |
c.1066_1067delinsGC |
p.S356A |
Missense |
1/6 |
- |
1 |
7-119915758-C-G |
c.1072C>G |
p.P358A |
Missense |
1/6 |
- |
1 |
7-119915758-C-T |
c.1072C>T |
p.P358S |
Missense |
1/6 |
- |
2 |
7-119915759-C-T |
c.1073C>T |
p.P358L |
Missense |
1/6 |
- |
1 |
7-119915761-G-C |
c.1075G>C |
p.A359P |
Missense |
1/6 |
- |
1 |
7-119915761-GC-AG |
c.1075_1076delinsAG |
p.A359R |
Missense |
1/6 |
- |
1 |
7-119915761-GCA-TGT |
c.1075_1077delinsTGT |
p.A359C |
Missense |
1/6 |
- |
2 |
7-119915761-G-T |
c.1075G>T |
p.A359S |
Missense |
1/6 |
- |
1 |
7-119915762-CA-AC |
c.1076_1077delinsAC |
p.A359D |
Missense |
1/6 |
- |
2 |
7-119915764-G-A |
c.1078G>A |
p.A360T |
Missense |
1/6 |
- |
1 |
7-119915766-C-A |
c.1080C>A |
p.A360= |
Synonymous |
1/6 |
- |
1 |
7-119915766-C-G |
c.1080C>G |
p.A360= |
Synonymous |
1/6 |
- |
1 |
7-119915766-C-T |
c.1080C>T |
p.A360= |
Synonymous |
1/6 |
- |
4 |
7-119915771-GG-TT |
c.1085_1086delinsTT |
p.W362F |
Missense |
1/6 |
- |
12 |
7-119915781-C-T |
c.1095C>T |
p.I365= |
Synonymous |
1/6 |
- |
3 |
7-119915782-G-A |
c.1096G>A |
p.V366I |
Missense |
1/6 |
- |
11 |
7-119915790-G-A |
c.1104G>A |
p.M368I |
Missense |
1/6 |
- |
1 |
7-119915790-G-C |
c.1104G>C |
p.M368I |
Missense |
1/6 |
- |
1 |
7-119915790-G-T |
c.1104G>T |
p.M368I |
Missense |
1/6 |
- |
1 |
7-119915797-C-T |
c.1111C>T |
p.L371= |
Synonymous |
1/6 |
- |
1 |
7-119915800-G-A |
c.1114G>A |
p.G372R |
Missense |
1/6 |
- |
1 |
7-119915800-G-T |
c.1114G>T |
p.G372W |
Missense |
1/6 |
- |
1 |
7-119915801-G-T |
c.1115G>T |
p.G372V |
Missense |
1/6 |
- |
1 |
7-119918206-T-A |
c.1115+2405T>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119919370-T-G |
c.1115+3569T>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119925029-T-C |
c.1115+9228T>C |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119928625-G-T |
c.1115+12824G>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119933847-A-G |
c.1115+18046A>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119935433-C-A |
c.1115+19632C>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119935433-C-G |
c.1115+19632C>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119935433-C-T |
c.1115+19632C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119940921-G-A |
c.1115+25120G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119941551-GT-G |
c.1115+25759del |
- |
IntronicDeletion |
- |
1/5 |
1 |
7-119943111-A-G |
c.1115+27310A>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119943791-C-T |
c.1115+27990C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119944960-G-A |
c.1115+29159G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119945125-G-A |
c.1115+29324G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119947798-T-C |
c.1115+31997T>C |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119950477-AT-A |
c.1115+34684del |
- |
IntronicDeletion |
- |
1/5 |
1 |
7-119951256-C-A |
c.1115+35455C>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119953795-A-AT |
c.1115+38011dup |
- |
IntronicInsertion |
- |
1/5 |
1 |
7-119953814-T-G |
c.1115+38013T>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119954356-C-G |
c.1115+38555C>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119956907-T-G |
c.1115+41106T>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119957659-A-T |
c.1115+41858A>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119970798-A-G |
c.1115+54997A>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119971898-T-C |
c.1115+56097T>C |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119974550-C-T |
c.1115+58749C>T |
- |
IntronicSNV |
- |
1/5 |
4 |
7-119978457-C-CT |
c.1115+62662dup |
- |
IntronicInsertion |
- |
1/5 |
1 |
7-119980973-T-C |
c.1115+65172T>C |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119981197-C-T |
c.1115+65396C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119983631-G-A |
c.1115+67830G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119986400-A-C |
c.1115+70599A>C |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119988544-C-A |
c.1115+72743C>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119989285-G-A |
c.1115+73484G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119990157-A-G |
c.1115+74356A>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119992933-G-T |
c.1115+77132G>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119994219-G-A |
c.1115+78418G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-119997267-C-T |
c.1115+81466C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120000485-T-G |
c.1115+84684T>G |
- |
IntronicSNV |
- |
1/5 |
4 |
7-120002948-T-C |
c.1115+87147T>C |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120007255-A-T |
c.1115+91454A>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120007695-CT-C |
c.1115+91905del |
- |
IntronicDeletion |
- |
1/5 |
1 |
7-120008158-G-A |
c.1115+92357G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120008163-G-A |
c.1115+92362G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120014576-C-G |
c.1115+98775C>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120017011-C-A |
c.1115+101210C>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120017473-GATTCCTTCACT-G |
c.1115+101672_1115+101682del |
- |
IntronicDeletion |
- |
1/5 |
1 |
7-120017656-A-T |
c.1115+101855A>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120018529-G-T |
c.1115+102728G>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120020613-T-A |
c.1115+104812T>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120021118-G-T |
c.1115+105317G>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120021922-G-A |
c.1115+106121G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120023034-C-T |
c.1115+107233C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120025556-A-G |
c.1115+109755A>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120026493-AT-A |
c.1115+110700del |
- |
IntronicDeletion |
- |
1/5 |
1 |
7-120028961-C-T |
c.1115+113160C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120029873-C-A |
c.1115+114072C>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120036540-A-G |
c.1115+120739A>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120037869-C-G |
c.1115+122068C>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120038234-C-T |
c.1115+122433C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120041280-C-T |
c.1115+125479C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120044033-AT-A |
c.1115+128241del |
- |
IntronicDeletion |
- |
1/5 |
1 |
7-120044067-A-G |
c.1115+128266A>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120047296-GT-G |
c.1115+131503del |
- |
IntronicDeletion |
- |
1/5 |
1 |
7-120056004-T-C |
c.1115+140203T>C |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120057284-C-G |
c.1115+141483C>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120058871-G-A |
c.1115+143070G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120059121-A-AAT |
c.1115+143332_1115+143333dup |
- |
IntronicInsertion |
- |
1/5 |
1 |
7-120059394-T-TA |
c.1115+143601dup |
- |
IntronicInsertion |
- |
1/5 |
1 |
7-120062481-C-T |
c.1115+146680C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120068254-A-C |
c.1115+152453A>C |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120071457-G-A |
c.1115+155656G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120072997-G-A |
c.1115+157196G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120073103-T-C |
c.1115+157302T>C |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120073222-C-T |
c.1115+157421C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120073890-A-G |
c.1115+158089A>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120080504-T-C |
c.1115+164703T>C |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120081783-T-A |
c.1115+165982T>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120081783-T-C |
c.1115+165982T>C |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120081783-T-G |
c.1115+165982T>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120083489-T-A |
c.1115+167688T>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120083738-AT-A |
c.1115+167947del |
- |
IntronicDeletion |
- |
1/5 |
1 |
7-120084324-C-A |
c.1115+168523C>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120092838-C-T |
c.1115+177037C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120095240-T-A |
c.1115+179439T>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120095239-AT-A |
c.1115+179442del |
- |
IntronicDeletion |
- |
1/5 |
1 |
7-120096711-C-T |
c.1115+180910C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120098639-C-A |
c.1115+182838C>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120100778-C-G |
c.1115+184977C>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120102267-GT-G |
c.1115+186476del |
- |
IntronicDeletion |
- |
1/5 |
1 |
7-120103802-G-A |
c.1115+188001G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120103955-T-TGATTGATA |
c.1115+188157_1115+188158insTGATAGAT |
- |
IntronicInsertion |
- |
1/5 |
1 |
7-120103955-T-TGATTGATAGATA |
c.1115+188157_1115+188158insTGATAGATAGAT |
- |
IntronicInsertion |
- |
1/5 |
1 |
7-120104002-C-T |
c.1115+188201C>T |
- |
IntronicSNV |
- |
1/5 |
2 |
7-120104076-T-A |
c.1115+188275T>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120104076-T-G |
c.1115+188275T>G |
- |
IntronicSNV |
- |
1/5 |
2 |
7-120104232-A-C |
c.1115+188431A>C |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120105236-AT-A |
c.1115+189440del |
- |
IntronicDeletion |
- |
1/5 |
1 |
7-120112961-G-T |
c.1115+197160G>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120116754-A-T |
c.1115+200953A>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120117210-A-C |
c.1115+201409A>C |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120122687-C-T |
c.1115+206886C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120127294-T-A |
c.1115+211493T>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120134684-C-G |
c.1115+218883C>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120135393-C-T |
c.1115+219592C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120136968-C-A |
c.1115+221167C>A |
- |
IntronicSNV |
- |
1/5 |
2 |
7-120136968-C-G |
c.1115+221167C>G |
- |
IntronicSNV |
- |
1/5 |
2 |
7-120139840-G-A |
c.1115+224039G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120140973-A-G |
c.1115+225172A>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120141760-G-A |
c.1115+225959G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120143402-C-A |
c.1115+227601C>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120145310-G-A |
c.1116-227647G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120145405-C-T |
c.1116-227552C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120149149-A-T |
c.1116-223808A>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120155270-C-T |
c.1116-217687C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120164284-G-A |
c.1116-208673G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120164284-G-T |
c.1116-208673G>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120169316-A-G |
c.1116-203641A>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120187785-C-A |
c.1116-185172C>A |
- |
IntronicSNV |
- |
1/5 |
3 |
7-120187785-C-G |
c.1116-185172C>G |
- |
IntronicSNV |
- |
1/5 |
3 |
7-120187785-C-T |
c.1116-185172C>T |
- |
IntronicSNV |
- |
1/5 |
3 |
7-120196168-A-T |
c.1116-176789A>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120216928-C-A |
c.1116-156029C>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120216928-C-T |
c.1116-156029C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120219759-A-T |
c.1116-153198A>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120225074-G-A |
c.1116-147883G>A |
- |
IntronicSNV |
- |
1/5 |
3 |
7-120237813-C-G |
c.1116-135144C>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120237813-C-T |
c.1116-135144C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120242785-G-A |
c.1116-130172G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120242785-G-T |
c.1116-130172G>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120243576-T-G |
c.1116-129381T>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120259834-C-A |
c.1116-113123C>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120268303-T-C |
c.1116-104654T>C |
- |
IntronicSNV |
- |
1/5 |
2 |
7-120269171-G-A |
c.1116-103786G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120269866-C-A |
c.1116-103091C>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120271086-T-C |
c.1116-101871T>C |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120272871-A-G |
c.1116-100086A>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120272964-T-A |
c.1116-99993T>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120272964-T-G |
c.1116-99993T>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120273226-T-C |
c.1116-99731T>C |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120275961-A-G |
c.1116-96996A>G |
- |
IntronicSNV |
- |
1/5 |
4 |
7-120282631-A-T |
c.1116-90326A>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120289216-T-A |
c.1116-83741T>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120291154-T-A |
c.1116-81803T>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120300038-G-A |
c.1116-72919G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120300038-G-T |
c.1116-72919G>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120305149-G-A |
c.1116-67808G>A |
- |
IntronicSNV |
- |
1/5 |
4 |
7-120307218-C-T |
c.1116-65739C>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120323727-A-C |
c.1116-49230A>C |
- |
IntronicSNV |
- |
1/5 |
3 |
7-120323727-A-G |
c.1116-49230A>G |
- |
IntronicSNV |
- |
1/5 |
3 |
7-120324327-A-G |
c.1116-48630A>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120327284-T-C |
c.1116-45673T>C |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120327349-C-T |
c.1116-45608C>T |
- |
IntronicSNV |
- |
1/5 |
4 |
7-120329042-A-C |
c.1116-43915A>C |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120329455-A-G |
c.1116-43502A>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120330666-A-G |
c.1116-42291A>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120335338-A-G |
c.1116-37619A>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120338608-G-A |
c.1116-34349G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120344218-C-A |
c.1116-28739C>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120350507-G-T |
c.1116-22450G>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120359727-G-T |
c.1116-13230G>T |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120371105-G-A |
c.1116-1852G>A |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120371941-A-G |
c.1116-1016A>G |
- |
IntronicSNV |
- |
1/5 |
1 |
7-120372823-A-G |
c.1116-134A>G |
- |
IntronicSNV |
- |
1/5 |
5 |
7-120372961-G-A |
c.1120G>A |
p.G374S |
Missense |
2/6 |
- |
2 |
7-120372962-G-A |
c.1121G>A |
p.G374D |
Missense |
2/6 |
- |
2 |
7-120372963-T-G |
c.1122T>G |
p.G374= |
Synonymous |
2/6 |
- |
1 |
7-120372964-G-A |
c.1123G>A |
p.D375N |
Missense |
2/6 |
- |
1 |
7-120372966-C-A |
c.1125C>A |
p.D375E |
Missense |
2/6 |
- |
1 |
7-120372966-C-G |
c.1125C>G |
p.D375E |
Missense |
2/6 |
- |
1 |
7-120372968-T-C |
c.1127T>C |
p.M376T |
Missense |
2/6 |
- |
1 |
7-120372975-A-C |
c.1134A>C |
p.P378= |
Synonymous |
2/6 |
- |
1 |
7-120372976-AA-GT |
c.1135_1136delinsGT |
p.K379V |
Missense |
2/6 |
- |
1 |
7-120372981-C-A |
c.1140C>A |
p.T380= |
Synonymous |
2/6 |
- |
1 |
7-120372981-C-T |
c.1140C>T |
p.T380= |
Synonymous |
2/6 |
- |
1 |
7-120372985-G-T |
c.1144G>T |
p.A382S |
Missense |
2/6 |
- |
1 |
7-120372986-C-T |
c.1145C>T |
p.A382V |
Missense |
2/6 |
- |
2 |
7-120372990-G-A |
c.1149G>A |
p.G383= |
Synonymous |
2/6 |
- |
4 |
7-120372990-G-C |
c.1149G>C |
p.G383= |
Synonymous |
2/6 |
- |
1 |
7-120372990-G-T |
c.1149G>T |
p.G383= |
Synonymous |
2/6 |
- |
1 |
7-120372996-T-G |
c.1155T>G |
p.I385M |
Missense |
2/6 |
- |
2 |
7-120373004-C-A |
c.1163C>A |
p.S388Y |
Missense |
2/6 |
- |
1 |
7-120373004-C-T |
c.1163C>T |
p.S388F |
Missense |
2/6 |
- |
2 |
7-120373007-T-C |
c.1166T>C |
p.I389T |
Missense |
2/6 |
- |
1 |
7-120373008-C-A |
c.1167C>A |
p.I389= |
Synonymous |
2/6 |
- |
2 |
7-120373008-C-T |
c.1167C>T |
p.I389= |
Synonymous |
2/6 |
- |
3 |
7-120373009-TG-GC |
c.1168_1169delinsGC |
p.C390A |
Missense |
2/6 |
- |
1 |
7-120373011-T-A |
c.1170T>A |
p.C390* |
Nonsense |
2/6 |
- |
4 |
7-120373013-C-A |
c.1172C>A |
p.S391* |
Nonsense |
2/6 |
- |
1 |
7-120373013-C-T |
c.1172C>T |
p.S391L |
Missense |
2/6 |
- |
6 |
7-120373014-G-A |
c.1173G>A |
p.S391= |
Synonymous |
2/6 |
- |
2 |
7-120373014-G-C |
c.1173G>C |
p.S391= |
Synonymous |
2/6 |
- |
1 |
7-120373014-G-T |
c.1173G>T |
p.S391= |
Synonymous |
2/6 |
- |
1 |
7-120373017-G-C |
c.1176G>C |
p.L392= |
Synonymous |
2/6 |
- |
1 |
7-120373026-C-T |
c.1185C>T |
p.V395= |
Synonymous |
2/6 |
- |
5 |
7-120373029-G-C |
c.1188G>C |
p.L396F |
Missense |
2/6 |
- |
1 |
7-120373029-G-T |
c.1188G>T |
p.L396F |
Missense |
2/6 |
- |
1 |
7-120373031-T-C |
c.1190T>C |
p.V397A |
Missense |
2/6 |
- |
1 |
7-120373033-AT-GC |
c.1192_1193delinsGC |
p.I398A |
Missense |
2/6 |
- |
1 |
7-120373037-C-T |
c.1196C>T |
p.A399V |
Missense |
2/6 |
- |
2 |
7-120373039-CT-GC |
c.1198_1199delinsGC |
p.L400A |
Missense |
2/6 |
- |
2 |
7-120373042-C-G |
c.1201C>G |
p.P401A |
Missense |
2/6 |
- |
1 |
7-120373043-C-T |
c.1202C>T |
p.P401L |
Missense |
2/6 |
- |
6 |
7-120373045-G-A |
c.1204G>A |
p.V402I |
Missense |
2/6 |
- |
1 |
7-120373045-G-GAAACTAAGAATTTT |
c.1204_1205insAAACTAAGAATTTT |
p.V402Efs*8 |
Frameshift |
2/6 |
- |
1 |
7-120373046-T-C |
c.1205T>C |
p.V402A |
Missense |
2/6 |
- |
3 |
7-120373048-C-G |
c.1207C>G |
p.P403A |
Missense |
2/6 |
- |
2 |
7-120373048-C-T |
c.1207C>T |
p.P403S |
Missense |
2/6 |
- |
1 |
7-120373049-C-T |
c.1208C>T |
p.P403L |
Missense |
2/6 |
- |
2 |
7-120373050-G-A |
c.1209G>A |
p.P403= |
Synonymous |
2/6 |
- |
2 |
7-120373050-G-T |
c.1209G>T |
p.P403= |
Synonymous |
2/6 |
- |
1 |
7-120373051-G-A |
c.1210G>A |
p.V404M |
Missense |
2/6 |
- |
9 |
7-120373051-GTG-ATC |
c.1210_1212delinsATC |
p.V404I |
Missense |
2/6 |
- |
2 |
7-120373051-GTG-TGT |
c.1210_1212delinsTGT |
p.V404C |
Missense |
2/6 |
- |
1 |
7-120373052-T-C |
c.1211T>C |
p.V404A |
Missense |
2/6 |
- |
3 |
7-120373054-AT-GC |
c.1213_1214delinsGC |
p.I405A |
Missense |
2/6 |
- |
1 |
7-120373057-G-A |
c.1216G>A |
p.V406I |
Missense |
2/6 |
- |
1 |
7-120373058-T-C |
c.1217T>C |
p.V406A |
Missense |
2/6 |
- |
2 |
7-120373060-T-G |
c.1219T>G |
p.S407A |
Missense |
2/6 |
- |
2 |
7-120373061-C-T |
c.1220C>T |
p.S407F |
Missense |
2/6 |
- |
4 |
7-120373062-C-A |
c.1221C>A |
p.S407= |
Synonymous |
2/6 |
- |
2 |
7-120373062-C-G |
c.1221C>G |
p.S407= |
Synonymous |
2/6 |
- |
1 |
7-120373062-C-T |
c.1221C>T |
p.S407= |
Synonymous |
2/6 |
- |
1 |
7-120373063-AA-GC |
c.1222_1223delinsGC |
p.N408A |
Missense |
2/6 |
- |
2 |
7-120373066-TT-GC |
c.1225_1226delinsGC |
p.F409A |
Missense |
2/6 |
- |
1 |
7-120373067-T-C |
c.1226T>C |
p.F409S |
Missense |
2/6 |
- |
1 |
7-120373069-AG-GC |
c.1228_1229delinsGC |
p.S410A |
Missense |
2/6 |
- |
1 |
7-120373072-CG-GC |
c.1231_1232delinsGC |
p.R411A |
Missense |
2/6 |
- |
1 |
7-120373072-C-T |
c.1231C>T |
p.R411C |
Missense |
2/6 |
- |
2 |
7-120373073-G-A |
c.1232G>A |
p.R411H |
Missense |
2/6 |
- |
3 |
7-120373073-G-T |
c.1232G>T |
p.R411L |
Missense |
2/6 |
- |
2 |
7-120373075-AT-GC |
c.1234_1235delinsGC |
p.I412A |
Missense |
2/6 |
- |
2 |
7-120373078-TA-GC |
c.1237_1238delinsGC |
p.Y413A |
Missense |
2/6 |
- |
2 |
7-120373083-C-A |
c.1242C>A |
p.H414Q |
Missense |
2/6 |
- |
2 |
7-120373083-C-G |
c.1242C>G |
p.H414Q |
Missense |
2/6 |
- |
3 |
7-120373093-C-T |
c.1252C>T |
p.R418* |
Nonsense |
2/6 |
- |
4 |
7-120373094-G-A |
c.1253G>A |
p.R418Q |
Missense |
2/6 |
- |
2 |
7-120373096-G-A |
c.1255G>A |
p.A419T |
Missense |
2/6 |
- |
1 |
7-120373098-A-AT |
c.1257_1258insT |
p.D420* |
Nonsense |
2/6 |
- |
2 |
7-120373099-GA-TG |
c.1258_1259delinsTG |
p.D420C |
Missense |
2/6 |
- |
1 |
7-120373099-G-C |
c.1258G>C |
p.D420H |
Missense |
2/6 |
- |
1 |
7-120373103-A-T |
c.1262A>T |
p.K421I |
Missense |
2/6 |
- |
1 |
7-120373105-C-A |
c.1264C>A |
p.R422= |
Synonymous |
2/6 |
- |
2 |
7-120373105-CGA-TGT |
c.1264_1266delinsTGT |
p.R422C |
Missense |
2/6 |
- |
1 |
7-120373105-C-T |
c.1264C>T |
p.R422* |
Nonsense |
2/6 |
- |
1 |
7-120373106-G-A |
c.1265G>A |
p.R422Q |
Missense |
2/6 |
- |
6 |
7-120373110-G-A |
c.1269G>A |
p.R423= |
Synonymous |
2/6 |
- |
1 |
7-120373111-G-A |
c.1270G>A |
p.A424T |
Missense |
2/6 |
- |
2 |
7-120373123-C-T |
c.1278+4C>T |
- |
IntronicSNV |
- |
2/5 |
1 |
7-120373138-G-A |
c.1278+19G>A |
- |
IntronicSNV |
- |
2/5 |
1 |
7-120373173-G-A |
c.1278+54G>A |
- |
IntronicSNV |
- |
2/5 |
1 |
7-120373783-C-T |
c.1278+664C>T |
- |
IntronicSNV |
- |
2/5 |
1 |
7-120376206-T-C |
c.1278+3087T>C |
- |
IntronicSNV |
- |
2/5 |
1 |
7-120376959-A-C |
c.1278+3840A>C |
- |
IntronicSNV |
- |
2/5 |
1 |
7-120380907-C-A |
c.1279-681C>A |
- |
IntronicSNV |
- |
2/5 |
2 |
7-120380907-C-T |
c.1279-681C>T |
- |
IntronicSNV |
- |
2/5 |
2 |
7-120381588-AAA-GAC |
c.1279_1281delinsGAC |
p.K427D |
Missense |
3/6 |
- |
1 |
7-120381588-A-T |
c.1279A>T |
p.K427* |
Nonsense |
3/6 |
- |
1 |
7-120381597-C-T |
c.1288C>T |
p.L430= |
Synonymous |
3/6 |
- |
1 |
7-120381601-C-A |
c.1292C>A |
p.A431D |
Missense |
3/6 |
- |
2 |
7-120381604-G-A |
c.1295G>A |
p.R432K |
Missense |
3/6 |
- |
1 |
7-120381605-G-A |
c.1296G>A |
p.R432= |
Synonymous |
3/6 |
- |
1 |
7-120381607-T-A |
c.1298T>A |
p.I433N |
Missense |
3/6 |
- |
1 |
7-120381609-C-T |
c.1300C>T |
p.R434W |
Missense |
3/6 |
- |
1 |
7-120381610-G-A |
c.1301G>A |
p.R434Q |
Missense |
3/6 |
- |
1 |
7-120381610-G-C |
c.1301G>C |
p.R434P |
Missense |
3/6 |
- |
2 |
7-120381613-C-A |
c.1304C>A |
p.A435E |
Missense |
3/6 |
- |
1 |
7-120381613-C-T |
c.1304C>T |
p.A435V |
Missense |
3/6 |
- |
1 |
7-120381615-G-C |
c.1306G>C |
p.A436P |
Missense |
3/6 |
- |
1 |
7-120381618-AA-GC |
c.1309_1310delinsGC |
p.K437A |
Missense |
3/6 |
- |
1 |
7-120381619-A-G |
c.1310A>G |
p.K437R |
Missense |
3/6 |
- |
2 |
7-120381621-A-G |
c.1312A>G |
p.S438G |
Missense |
3/6 |
- |
1 |
7-120381621-AG-GA |
c.1312_1313delinsGA |
p.S438D |
Missense |
3/6 |
- |
1 |
7-120381621-AG-GC |
c.1312_1313delinsGC |
p.S438A |
Missense |
3/6 |
- |
1 |
7-120381621-A-C |
c.1312A>C |
p.S438R |
Missense |
3/6 |
- |
1 |
7-120381623-C-A |
c.1314C>A |
p.S438R |
Missense |
3/6 |
- |
1 |
7-120381623-C-G |
c.1314C>G |
p.S438R |
Missense |
3/6 |
- |
1 |
7-120381623-C-T |
c.1314C>T |
p.S438= |
Synonymous |
3/6 |
- |
1 |
7-120381624-G-A |
c.1315G>A |
p.G439R |
Missense |
3/6 |
- |
1 |
7-120381625-G-A |
c.1316G>A |
p.G439E |
Missense |
3/6 |
- |
2 |
7-120381629-C-A |
c.1320C>A |
p.S440R |
Missense |
3/6 |
- |
1 |
7-120381629-C-T |
c.1320C>T |
p.S440= |
Synonymous |
3/6 |
- |
3 |
7-120381630-G-A |
c.1321G>A |
p.A441T |
Missense |
3/6 |
- |
2 |
7-120381634-A-G |
c.1325A>G |
p.N442S |
Missense |
3/6 |
- |
1 |
7-120381637-C-T |
c.1328C>T |
p.A443V |
Missense |
3/6 |
- |
1 |
7-120381638-T-A |
c.1329T>A |
p.A443= |
Synonymous |
3/6 |
- |
2 |
7-120381638-T-C |
c.1329T>C |
p.A443= |
Synonymous |
3/6 |
- |
3 |
7-120381638-T-G |
c.1329T>G |
p.A443= |
Synonymous |
3/6 |
- |
2 |
7-120381640-A-G |
c.1331A>G |
p.Y444C |
Missense |
3/6 |
- |
2 |
7-120381642-A-C |
c.1333A>C |
p.M445L |
Missense |
3/6 |
- |
1 |
7-120381648-AGC-TGA |
c.1339_1341delinsTGA |
p.S447* |
Nonsense |
3/6 |
- |
1 |
7-120381648-AG-GC |
c.1339_1340delinsGC |
p.S447A |
Missense |
3/6 |
- |
1 |
7-120381649-G-T |
c.1340G>T |
p.S447I |
Missense |
3/6 |
- |
2 |
7-120381648-A-C |
c.1339A>C |
p.S447R |
Missense |
3/6 |
- |
1 |
7-120381650-C-A |
c.1341C>A |
p.S447R |
Missense |
3/6 |
- |
1 |
7-120381650-C-G |
c.1341C>G |
p.S447R |
Missense |
3/6 |
- |
1 |
7-120381654-C-T |
c.1345C>T |
p.R449W |
Missense |
3/6 |
- |
1 |
7-120381661-G-T |
c.1352G>T |
p.G451V |
Missense |
3/6 |
- |
1 |
7-120381666-C-A |
c.1357C>A |
p.L453I |
Missense |
3/6 |
- |
1 |
7-120381666-C-G |
c.1357C>G |
p.L453V |
Missense |
3/6 |
- |
1 |
7-120381668-C-A |
c.1359C>A |
p.L453= |
Synonymous |
3/6 |
- |
1 |
7-120381672-A-G |
c.1363A>G |
p.N455D |
Missense |
3/6 |
- |
2 |
7-120381675-C-T |
c.1366C>T |
p.Q456* |
Nonsense |
3/6 |
- |
4 |
7-120381676-A-G |
c.1367A>G |
p.Q456R |
Missense |
3/6 |
- |
1 |
7-120381678-C-A |
c.1369C>A |
p.L457M |
Missense |
3/6 |
- |
1 |
7-120381679-T-C |
c.1370T>C |
p.L457P |
Missense |
3/6 |
- |
1 |
7-120381679-T-G |
c.1370T>G |
p.L457R |
Missense |
3/6 |
- |
1 |
7-120381681-C-A |
c.1372C>A |
p.Q458K |
Missense |
3/6 |
- |
1 |
7-120381959-TA-T |
c.1374+285del |
- |
IntronicDeletion |
- |
3/5 |
1 |
7-120382564-TC-GA |
c.1375_1376inv |
p.S459D |
Missense |
4/6 |
- |
1 |
7-120382564-T-G |
c.1375T>G |
p.S459A |
Missense |
4/6 |
- |
1 |
7-120382568-C-G |
c.1379C>G |
p.S460* |
Nonsense |
4/6 |
- |
2 |
7-120382568-C-T |
c.1379C>T |
p.S460L |
Missense |
4/6 |
- |
2 |
7-120382573-G-A |
c.1384G>A |
p.D462N |
Missense |
4/6 |
- |
6 |
7-120382576-G-C |
c.1387G>C |
p.E463Q |
Missense |
4/6 |
- |
2 |
7-120382582-G-T |
c.1393G>T |
p.A465S |
Missense |
4/6 |
- |
1 |
7-120382583-C-A |
c.1394C>A |
p.A465D |
Missense |
4/6 |
- |
1 |
7-120382588-G-T |
c.1399G>T |
p.V467F |
Missense |
4/6 |
- |
1 |
7-120382591-AG-CC |
c.1402_1403delinsCC |
p.S468P |
Missense |
4/6 |
- |
1 |
7-120382592-G-A |
c.1403G>A |
p.S468N |
Missense |
4/6 |
- |
3 |
7-120382592-G-C |
c.1403G>C |
p.S468T |
Missense |
4/6 |
- |
1 |
7-120382597-TC-CG |
c.1408_1409delinsCG |
p.S470R |
Missense |
4/6 |
- |
1 |
7-120382598-C-T |
c.1409C>T |
p.S470F |
Missense |
4/6 |
- |
1 |
7-120382599-C-T |
c.1410C>T |
p.S470= |
Synonymous |
4/6 |
- |
3 |
7-120382600-G-A |
c.1411G>A |
p.G471S |
Missense |
4/6 |
- |
1 |
7-120382600-G-C |
c.1411G>C |
p.G471R |
Missense |
4/6 |
- |
1 |
7-120382601-G-T |
c.1412G>T |
p.G471V |
Missense |
4/6 |
- |
1 |
7-120382604-C-T |
c.1415C>T |
p.S472F |
Missense |
4/6 |
- |
1 |
7-120382608-C-T |
c.1419C>T |
p.S473= |
Synonymous |
4/6 |
- |
1 |
7-120382609-TT-GC |
c.1420_1421delinsGC |
p.F474A |
Missense |
4/6 |
- |
1 |
7-120382612-G-A |
c.1423G>A |
p.E475K |
Missense |
4/6 |
- |
2 |
7-120382612-G-C |
c.1423G>C |
p.E475Q |
Missense |
4/6 |
- |
1 |
7-120382615-A-G |
c.1426A>G |
p.T476A |
Missense |
4/6 |
- |
1 |
7-120382618-C-CCA |
c.1429_1430insCA |
p.Q477Pfs*101 |
Frameshift |
4/6 |
- |
2 |
7-120382618-C-CCG |
c.1429_1430insCG |
p.Q477Pfs*101 |
Frameshift |
4/6 |
- |
1 |
7-120382619-A-ATCATGT |
c.1430_1431insTCATGT |
p.Q477delinsHHV |
MultiAAMissense |
4/6 |
- |
1 |
7-120382620-G-C |
c.1431G>C |
p.Q477H |
Missense |
4/6 |
- |
1 |
7-120382620-G-T |
c.1431G>T |
p.Q477H |
Missense |
4/6 |
- |
1 |
7-120382621-C-A |
c.1432C>A |
p.H478N |
Missense |
4/6 |
- |
1 |
7-120382627-CA-GC |
c.1438_1439delinsGC |
p.H480A |
Missense |
4/6 |
- |
1 |
7-120382630-C-T |
c.1441C>T |
p.L481= |
Synonymous |
4/6 |
- |
1 |
7-120382632-G-A |
c.1443G>A |
p.L481= |
Synonymous |
4/6 |
- |
1 |
7-120382632-G-C |
c.1443G>C |
p.L481= |
Synonymous |
4/6 |
- |
1 |
7-120382632-G-T |
c.1443G>T |
p.L481= |
Synonymous |
4/6 |
- |
1 |
7-120382633-C-T |
c.1444C>T |
p.L482F |
Missense |
4/6 |
- |
1 |
7-120382633-CT-GC |
c.1444_1445delinsGC |
p.L482A |
Missense |
4/6 |
- |
1 |
7-120382636-C-A |
c.1447C>A |
p.H483N |
Missense |
4/6 |
- |
1 |
7-120382639-TG-GC |
c.1450_1451delinsGC |
p.C484A |
Missense |
4/6 |
- |
2 |
7-120382642-C-A |
c.1453C>A |
p.L485M |
Missense |
4/6 |
- |
1 |
7-120382642-C-T |
c.1453C>T |
p.L485= |
Synonymous |
4/6 |
- |
2 |
7-120382642-CTG-ATC |
c.1453_1455delinsATC |
p.L485I |
Missense |
4/6 |
- |
1 |
7-120382642-CT-GC |
c.1453_1454delinsGC |
p.L485A |
Missense |
4/6 |
- |
1 |
7-120382645-G-A |
c.1456G>A |
p.E486K |
Missense |
4/6 |
- |
8 |
7-120382645-G-T |
c.1456G>T |
p.E486* |
Nonsense |
4/6 |
- |
1 |
7-120382649-A-C |
c.1460A>C |
p.K487T |
Missense |
4/6 |
- |
1 |
7-120382650-A-G |
c.1461A>G |
p.K487= |
Synonymous |
4/6 |
- |
1 |
7-120382645-G-GA |
c.1462dup |
p.T488Nfs*13 |
Frameshift |
4/6 |
- |
5 |
7-120382651-A-G |
c.1462A>G |
p.T488A |
Missense |
4/6 |
- |
1 |
7-120382652-C-A |
c.1463C>A |
p.T488N |
Missense |
4/6 |
- |
3 |
7-120382656-G-A |
c.1467G>A |
p.T489= |
Synonymous |
4/6 |
- |
3 |
7-120382656-G-C |
c.1467G>C |
p.T489= |
Synonymous |
4/6 |
- |
1 |
7-120382656-G-T |
c.1467G>T |
p.T489= |
Synonymous |
4/6 |
- |
1 |
7-120382717-G-T |
c.1467+61G>T |
- |
IntronicSNV |
- |
4/5 |
1 |
7-120382733-C-A |
c.1467+77C>A |
- |
IntronicSNV |
- |
4/5 |
1 |
7-120382733-C-T |
c.1467+77C>T |
- |
IntronicSNV |
- |
4/5 |
1 |
7-120383304-G-A |
c.1467+648G>A |
- |
IntronicSNV |
- |
4/5 |
1 |
7-120385834-A-G |
c.1468A>G |
p.N490D |
Missense |
5/6 |
- |
1 |
7-120385836-T-A |
c.1470T>A |
p.N490K |
Missense |
5/6 |
- |
1 |
7-120385837-CA-GC |
c.1471_1472delinsGC |
p.H491A |
Missense |
5/6 |
- |
1 |
7-120385839-C-T |
c.1473C>T |
p.H491= |
Synonymous |
5/6 |
- |
2 |
7-120385840-G-A |
c.1474G>A |
p.E492K |
Missense |
5/6 |
- |
6 |
7-120385843-TT-GC |
c.1477_1478delinsGC |
p.F493A |
Missense |
5/6 |
- |
1 |
7-120385847-T-C |
c.1481T>C |
p.V494A |
Missense |
5/6 |
- |
1 |
7-120385848-G-T |
c.1482G>T |
p.V494= |
Synonymous |
5/6 |
- |
2 |
7-120385849-G-A |
c.1483G>A |
p.D495N |
Missense |
5/6 |
- |
2 |
7-120385850-A-G |
c.1484A>G |
p.D495G |
Missense |
5/6 |
- |
1 |
7-120385851-C-T |
c.1485C>T |
p.D495= |
Synonymous |
5/6 |
- |
2 |
7-120385852-G-A |
c.1486G>A |
p.E496K |
Missense |
5/6 |
- |
10 |
7-120385860-C-A |
c.1494C>A |
p.V498= |
Synonymous |
5/6 |
- |
1 |
7-120385860-C-G |
c.1494C>G |
p.V498= |
Synonymous |
5/6 |
- |
1 |
7-120385860-C-T |
c.1494C>T |
p.V498= |
Synonymous |
5/6 |
- |
1 |
7-120385864-G-A |
c.1498G>A |
p.E500K |
Missense |
5/6 |
- |
5 |
7-120385871-G-A |
c.1505G>A |
p.S502N |
Missense |
5/6 |
- |
1 |
7-120385873-TG-GC |
c.1507_1508delinsGC |
p.C503A |
Missense |
5/6 |
- |
1 |
7-120385875-C-A |
c.1509C>A |
p.C503* |
Nonsense |
5/6 |
- |
1 |
7-120385876-A-G |
c.1510A>G |
p.M504V |
Missense |
5/6 |
- |
1 |
7-120385879-G-A |
c.1513G>A |
p.E505K |
Missense |
5/6 |
- |
7 |
7-120385881-A-C |
c.1515A>C |
p.E505D |
Missense |
5/6 |
- |
2 |
7-120385881-A-T |
c.1515A>T |
p.E505D |
Missense |
5/6 |
- |
2 |
7-120385895-A-G |
c.1529A>G |
p.N510S |
Missense |
5/6 |
- |
3 |
7-120385896-T-A |
c.1530T>A |
p.N510K |
Missense |
5/6 |
- |
1 |
7-120385896-T-G |
c.1530T>G |
p.N510K |
Missense |
5/6 |
- |
1 |
7-120385897-C-T |
c.1531C>T |
p.R511C |
Missense |
5/6 |
- |
2 |
7-120385898-G-A |
c.1532G>A |
p.R511H |
Missense |
5/6 |
- |
5 |
7-120385900-C-T |
c.1534C>T |
p.P512S |
Missense |
5/6 |
- |
1 |
7-120385901-C-T |
c.1535C>T |
p.P512L |
Missense |
5/6 |
- |
5 |
7-120385909-C-T |
c.1543C>T |
p.H515Y |
Missense |
5/6 |
- |
4 |
7-120385915-C-T |
c.1549C>T |
p.P517S |
Missense |
5/6 |
- |
1 |
7-120385916-C-A |
c.1550C>A |
p.P517H |
Missense |
5/6 |
- |
3 |
7-120385919-C-T |
c.1553C>T |
p.S518L |
Missense |
5/6 |
- |
5 |
7-120385930-C-A |
c.1564C>A |
p.Q522K |
Missense |
5/6 |
- |
1 |
7-120385934-A-T |
c.1568A>T |
p.Q523L |
Missense |
5/6 |
- |
1 |
7-120385936-G-T |
c.1570G>T |
p.G524* |
Nonsense |
5/6 |
- |
1 |
7-120385937-G-A |
c.1571G>A |
p.G524E |
Missense |
5/6 |
- |
4 |
7-120385938-A-C |
c.1572A>C |
p.G524= |
Synonymous |
5/6 |
- |
1 |
7-120385942-A-G |
c.1576A>G |
p.T526A |
Missense |
5/6 |
- |
1 |
7-120385943-C-T |
c.1577C>T |
p.T526I |
Missense |
5/6 |
- |
1 |
7-120385946-G-A |
c.1580G>A |
p.S527N |
Missense |
5/6 |
- |
1 |
7-120385947-C-T |
c.1581C>T |
p.S527= |
Synonymous |
5/6 |
- |
2 |
7-120385950-C-T |
c.1584C>T |
p.T528= |
Synonymous |
5/6 |
- |
1 |
7-120385951-TG-GC |
c.1585_1586delinsGC |
p.C529A |
Missense |
5/6 |
- |
2 |
7-120385953-C-T |
c.1587C>T |
p.C529= |
Synonymous |
5/6 |
- |
1 |
7-120385954-TG-GC |
c.1588_1589delinsGC |
p.C530A |
Missense |
5/6 |
- |
2 |
7-120385956-T-C |
c.1590T>C |
p.C530= |
Synonymous |
5/6 |
- |
1 |
7-120385960-CGA-TGG |
c.1594_1596delinsTGG |
p.R532W |
Missense |
5/6 |
- |
1 |
7-120385960-C-T |
c.1594C>T |
p.R532* |
Nonsense |
5/6 |
- |
6 |
7-120385961-G-A |
c.1595G>A |
p.R532Q |
Missense |
5/6 |
- |
5 |
7-120385963-C-T |
c.1597C>T |
p.R533* |
Nonsense |
5/6 |
- |
4 |
7-120385964-G-A |
c.1598G>A |
p.R533Q |
Missense |
5/6 |
- |
7 |
7-120385964-G-C |
c.1598G>C |
p.R533P |
Missense |
5/6 |
- |
1 |
7-120385964-G-T |
c.1598G>T |
p.R533L |
Missense |
5/6 |
- |
1 |
7-120385968-C-A |
c.1602C>A |
p.H534Q |
Missense |
5/6 |
- |
2 |
7-120385968-C-CT |
c.1602_1603insT |
p.K535* |
Nonsense |
5/6 |
- |
1 |
7-120385968-C-G |
c.1602C>G |
p.H534Q |
Missense |
5/6 |
- |
3 |
7-120385969-A-C |
c.1603A>C |
p.K535Q |
Missense |
5/6 |
- |
1 |
7-120385969-A-T |
c.1603A>T |
p.K535* |
Nonsense |
5/6 |
- |
1 |
7-120385971-A-AT |
c.1605_1606insT |
p.K536* |
Nonsense |
5/6 |
- |
1 |
7-120385973-A-T |
c.1607A>T |
p.K536I |
Missense |
5/6 |
- |
2 |
7-120385968-CA-C |
c.1609del |
p.T537Lfs*40 |
Frameshift |
5/6 |
- |
5 |
7-120385968-C-CA |
c.1609dup |
p.T537Nfs*16 |
Frameshift |
5/6 |
- |
3 |
7-120385976-C-A |
c.1610C>A |
p.T537N |
Missense |
5/6 |
- |
1 |
7-120385976-C-T |
c.1610C>T |
p.T537I |
Missense |
5/6 |
- |
1 |
7-120385978-T-G |
c.1612T>G |
p.F538V |
Missense |
5/6 |
- |
1 |
7-120385979-T-C |
c.1613T>C |
p.F538S |
Missense |
5/6 |
- |
3 |
7-120385981-C-T |
c.1615C>T |
p.R539C |
Missense |
5/6 |
- |
4 |
7-120385981-TC-T |
c.1615del |
p.R539Afs*38 |
Frameshift |
5/6 |
- |
1 |
7-120385982-G-A |
c.1616G>A |
p.R539H |
Missense |
5/6 |
- |
1 |
7-120385982-G-T |
c.1616G>T |
p.R539L |
Missense |
5/6 |
- |
3 |
7-120385986-C-A |
c.1620C>A |
p.I540= |
Synonymous |
5/6 |
- |
1 |
7-120385986-C-T |
c.1620C>T |
p.I540= |
Synonymous |
5/6 |
- |
1 |
7-120385988-C-T |
c.1622C>T |
p.P541L |
Missense |
5/6 |
- |
1 |
7-120385992-T-A |
c.1626T>A |
p.N542K |
Missense |
5/6 |
- |
1 |
7-120385994-C-T |
c.1628C>T |
p.A543V |
Missense |
5/6 |
- |
1 |
7-120385997-A-G |
c.1631A>G |
p.N544S |
Missense |
5/6 |
- |
7 |
7-120386003-C-T |
c.1637C>T |
p.S546L |
Missense |
5/6 |
- |
1 |
7-120386008-AG-GC |
c.1642_1643delinsGC |
p.S548A |
Missense |
5/6 |
- |
1 |
7-120386013-T-C |
c.1647T>C |
p.H549= |
Synonymous |
5/6 |
- |
1 |
7-120386014-C-T |
c.1648C>T |
p.Q550* |
Nonsense |
5/6 |
- |
1 |
7-120386015-A-C |
c.1649A>C |
p.Q550P |
Missense |
5/6 |
- |
1 |
7-120386015-A-G |
c.1649A>G |
p.Q550R |
Missense |
5/6 |
- |
1 |
7-120386017-G-A |
c.1651G>A |
p.G551S |
Missense |
5/6 |
- |
1 |
7-120386017-G-T |
c.1651G>T |
p.G551C |
Missense |
5/6 |
- |
1 |
7-120386016-AG-A |
c.1652del |
p.G551Vfs*26 |
Frameshift |
5/6 |
- |
1 |
7-120386019-T-G |
c.1653T>G |
p.G551= |
Synonymous |
5/6 |
- |
1 |
7-120386020-AG-CC |
c.1654_1655delinsCC |
p.S552P |
Missense |
5/6 |
- |
1 |
7-120386020-AG-GA |
c.1654_1655delinsGA |
p.S552D |
Missense |
5/6 |
- |
2 |
7-120386020-AG-GC |
c.1654_1655delinsGC |
p.S552A |
Missense |
5/6 |
- |
9 |
7-120386029-G-A |
c.1663G>A |
p.E555K |
Missense |
5/6 |
- |
2 |
7-120386032-C-T |
c.1666C>T |
p.L556F |
Missense |
5/6 |
- |
1 |
7-120386036-G-T |
c.1670G>T |
p.S557I |
Missense |
5/6 |
- |
1 |
7-120386037-C-T |
c.1671C>T |
p.S557= |
Synonymous |
5/6 |
- |
1 |
7-120386040-G-A |
c.1674G>A |
p.T558= |
Synonymous |
5/6 |
- |
5 |
7-120386044-C-A |
c.1678C>A |
p.Q560K |
Missense |
5/6 |
- |
1 |
7-120386044-C-G |
c.1678C>G |
p.Q560E |
Missense |
5/6 |
- |
1 |
7-120386049-C-T |
c.1683C>T |
p.I561= |
Synonymous |
5/6 |
- |
2 |
7-120386051-G-C |
c.1685G>C |
p.R562T |
Missense |
5/6 |
- |
4 |
7-120386052-A-C |
c.1686A>C |
p.R562S |
Missense |
5/6 |
- |
1 |
7-120386053-TG-GC |
c.1687_1688delinsGC |
p.C563A |
Missense |
5/6 |
- |
1 |
7-120386062-A-G |
c.1696A>G |
p.R566G |
Missense |
5/6 |
- |
1 |
7-120386063-G-A |
c.1697G>A |
p.R566K |
Missense |
5/6 |
- |
6 |
7-120386065-ACA-GAC |
c.1699_1701delinsGAC |
p.T567D |
Missense |
5/6 |
- |
1 |
7-120386073-G-T |
c.1707G>T |
p.L569= |
Synonymous |
5/6 |
- |
1 |
7-120386074-TC-GA |
c.1708_1709inv |
p.S570D |
Missense |
5/6 |
- |
1 |
7-120386074-T-G |
c.1708T>G |
p.S570A |
Missense |
5/6 |
- |
1 |
7-120386075-C-T |
c.1709C>T |
p.S570F |
Missense |
5/6 |
- |
1 |
7-120386078-A-G |
c.1712A>G |
p.N571S |
Missense |
5/6 |
- |
2 |
7-120386080-AG-GC |
c.1714_1715delinsGC |
p.S572A |
Missense |
5/6 |
- |
1 |
7-120386085-C-T |
c.1715+4C>T |
- |
IntronicSNV |
- |
5/5 |
1 |
7-120386180-G-A |
c.1715+99G>A |
- |
IntronicSNV |
- |
5/5 |
1 |
7-120387247-A-T |
c.1716-488A>T |
- |
IntronicSNV |
- |
5/5 |
1 |
7-120387736-C-A |
c.1717C>A |
p.R573= |
Synonymous |
6/6 |
- |
1 |
7-120387737-G-A |
c.1718G>A |
p.R573Q |
Missense |
6/6 |
- |
7 |
7-120387740-C-T |
c.1721C>T |
p.S574F |
Missense |
6/6 |
- |
1 |
7-120387741-C-A |
c.1722C>A |
p.S574= |
Synonymous |
6/6 |
- |
1 |
7-120387741-C-T |
c.1722C>T |
p.S574= |
Synonymous |
6/6 |
- |
1 |
7-120387742-AG-GC |
c.1723_1724delinsGC |
p.S575A |
Missense |
6/6 |
- |
1 |
7-120387755-A-G |
c.1736A>G |
p.K579R |
Missense |
6/6 |
- |
2 |
7-120387759-G-A |
c.1740G>A |
p.M580I |
Missense |
6/6 |
- |
2 |
7-120387760-G-A |
c.1741G>A |
p.E581K |
Missense |
6/6 |
- |
1 |
7-120387763-G-C |
c.1744G>C |
p.E582Q |
Missense |
6/6 |
- |
8 |
7-120387763-G-T |
c.1744G>T |
p.E582* |
Nonsense |
6/6 |
- |
3 |
7-120387764-A-G |
c.1745A>G |
p.E582G |
Missense |
6/6 |
- |
1 |
7-120387765-G-C |
c.1746G>C |
p.E582D |
Missense |
6/6 |
- |
1 |
7-120387766-TG-GC |
c.1747_1748delinsGC |
p.C583A |
Missense |
6/6 |
- |
1 |
7-120387775-CT-GC |
c.1756_1757delinsGC |
p.L586A |
Missense |
6/6 |
- |
1 |
7-120387777-A-AT |
c.1758_1759insT |
p.N587* |
Nonsense |
6/6 |
- |
1 |
7-120387778-AAACTG-A |
c.1759_1763del |
p.N587* |
Frameshift |
6/6 |
- |
1 |
7-120387779-A-C |
c.1760A>C |
p.N587T |
Missense |
6/6 |
- |
1 |
7-120387780-C-T |
c.1761C>T |
p.N587= |
Synonymous |
6/6 |
- |
2 |
7-120387781-TG-GC |
c.1762_1763delinsGC |
p.C588A |
Missense |
6/6 |
- |
2 |
7-120387797-T-A |
c.1778T>A |
p.V593E |
Missense |
6/6 |
- |
1 |
7-120387810-A-G |
c.1791A>G |
p.I597M |
Missense |
6/6 |
- |
1 |
7-120387818-T-C |
c.1799T>C |
p.I600T |
Missense |
6/6 |
- |
1 |
7-120387823-A-G |
c.1804A>G |
p.T602A |
Missense |
6/6 |
- |
5 |
7-120387824-CA-TG |
c.1805_1806inv |
p.T602M |
Missense |
6/6 |
- |
1 |
7-120387835-A-G |
c.1816A>G |
p.T606A |
Missense |
6/6 |
- |
1 |
7-120387837-C-T |
c.1818C>T |
p.T606= |
Synonymous |
6/6 |
- |
2 |
7-120387838-ACA-GAC |
c.1819_1821delinsGAC |
p.T607D |
Missense |
6/6 |
- |
2 |
7-120387838-A-G |
c.1819A>G |
p.T607A |
Missense |
6/6 |
- |
5 |
7-120387841-C-A |
c.1822C>A |
p.P608T |
Missense |
6/6 |
- |
2 |
7-120387841-C-G |
c.1822C>G |
p.P608A |
Missense |
6/6 |
- |
1 |
7-120387841-C-T |
c.1822C>T |
p.P608S |
Missense |
6/6 |
- |
2 |
7-120387844-G-A |
c.1825G>A |
p.E609K |
Missense |
6/6 |
- |
1 |
7-120387844-G-T |
c.1825G>T |
p.E609* |
Nonsense |
6/6 |
- |
1 |
7-120387847-G-A |
c.1828G>A |
p.G610R |
Missense |
6/6 |
- |
1 |
7-120387848-G-C |
c.1829G>C |
p.G610A |
Missense |
6/6 |
- |
1 |
7-120387848-G-T |
c.1829G>T |
p.G610V |
Missense |
6/6 |
- |
1 |
7-120387849-A-C |
c.1830A>C |
p.G610= |
Synonymous |
6/6 |
- |
3 |
7-120387849-A-G |
c.1830A>G |
p.G610= |
Synonymous |
6/6 |
- |
5 |
7-120387849-A-T |
c.1830A>T |
p.G610= |
Synonymous |
6/6 |
- |
3 |
7-120387852-C-T |
c.1833C>T |
p.D611= |
Synonymous |
6/6 |
- |
4 |
7-120387853-G-A |
c.1834G>A |
p.D612N |
Missense |
6/6 |
- |
14 |
7-120387856-A-C |
c.1837A>C |
p.R613= |
Synonymous |
6/6 |
- |
3 |
7-120387856-A-G |
c.1837A>G |
p.R613G |
Missense |
6/6 |
- |
2 |
7-120387856-A-T |
c.1837A>T |
p.R613W |
Missense |
6/6 |
- |
1 |
7-120387857-G-A |
c.1838G>A |
p.R613K |
Missense |
6/6 |
- |
1 |
7-120387858-G-A |
c.1839G>A |
p.R613= |
Synonymous |
6/6 |
- |
4 |
7-120387862-G-A |
c.1843G>A |
p.E615K |
Missense |
6/6 |
- |
3 |
7-120387865-TC-GA |
c.1846_1847inv |
p.S616D |
Missense |
6/6 |
- |
1 |
7-120387865-T-G |
c.1846T>G |
p.S616A |
Missense |
6/6 |
- |
5 |
7-120387866-C-T |
c.1847C>T |
p.S616F |
Missense |
6/6 |
- |
1 |
7-120387867-C-T |
c.1848C>T |
p.S616= |
Synonymous |
6/6 |
- |
1 |
7-120387868-C-T |
c.1849C>T |
p.P617S |
Missense |
6/6 |
- |
4 |
7-120387869-C-A |
c.1850C>A |
p.P617H |
Missense |
6/6 |
- |
1 |
7-120387870-T-A |
c.1851T>A |
p.P617= |
Synonymous |
6/6 |
- |
1 |
7-120387870-T-C |
c.1851T>C |
p.P617= |
Synonymous |
6/6 |
- |
1 |
7-120387870-T-G |
c.1851T>G |
p.P617= |
Synonymous |
6/6 |
- |
1 |
7-120387871-G-T |
c.1852G>T |
p.E618* |
Nonsense |
6/6 |
- |
1 |
7-120387876-C-A |
c.1857C>A |
p.Y619* |
Nonsense |
6/6 |
- |
1 |
7-120387876-C-T |
c.1857C>T |
p.Y619= |
Synonymous |
6/6 |
- |
1 |
7-120387878-C-T |
c.1859C>T |
p.S620L |
Missense |
6/6 |
- |
4 |
7-120387880-G-A |
c.1861G>A |
p.G621R |
Missense |
6/6 |
- |
1 |
7-120387881-G-A |
c.1862G>A |
p.G621E |
Missense |
6/6 |
- |
3 |
7-120387883-G-A |
c.1864G>A |
p.G622R |
Missense |
6/6 |
- |
1 |
7-120387883-G-C |
c.1864G>C |
p.G622R |
Missense |
6/6 |
- |
1 |
7-120387883-G-T |
c.1864G>T |
p.G622* |
Nonsense |
6/6 |
- |
2 |
7-120387884-G-A |
c.1865G>A |
p.G622E |
Missense |
6/6 |
- |
11 |
7-120387884-G-T |
c.1865G>T |
p.G622V |
Missense |
6/6 |
- |
1 |
7-120387890-T-C |
c.1871T>C |
p.I624T |
Missense |
6/6 |
- |
1 |
7-120387892-G-A |
c.1873G>A |
p.V625I |
Missense |
6/6 |
- |
5 |
7-120387893-T-A |
c.1874T>A |
p.V625D |
Missense |
6/6 |
- |
1 |
7-120387895-A-T |
c.1876A>T |
p.R626* |
Nonsense |
6/6 |
- |
1 |
7-120387898-G-A |
c.1879G>A |
p.V627I |
Missense |
6/6 |
- |
2 |
7-120387902-C-T |
c.1883C>T |
p.S628F |
Missense |
6/6 |
- |
1 |
7-120387904-G-A |
c.1885G>A |
p.A629T |
Missense |
6/6 |
- |
1 |
7-120387908-T-G |
c.1889T>G |
p.L630W |
Missense |
6/6 |
- |
1 |
7-120388604-T-C |
c.*692T>C |
- |
3-UTRSNV |
6/6 |
- |
1 |
7-120388728-C-T |
c.*816C>T |
- |
3-UTRSNV |
6/6 |
- |
1 |
7-120388746-T-A |
c.*834T>A |
- |
3-UTRSNV |
6/6 |
- |
1 |
7-120388746-T-C |
c.*834T>C |
- |
3-UTRSNV |
6/6 |
- |
1 |
7-120389648-T-A |
c.*1736T>A |
- |
3-UTRSNV |
6/6 |
- |
2 |