Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.154569646A>CCA358515075FGBc.1091A>C (p.Glu364Ala)
n.939+339A>C
c.434A>C (p.Glu145Ala)
c.914A>C (p.Glu305Ala)
c.959A>C (p.Glu320Ala)
c.791A>C (p.Glu264Ala)
c.1082A>C (p.Glu361Ala)
c.1080+11A>C (n.1080+11A>C)
4g.154569646A>GCA358515078FGBc.1091A>G (p.Glu364Gly)
n.939+339A>G
c.434A>G (p.Glu145Gly)
c.914A>G (p.Glu305Gly)
c.959A>G (p.Glu320Gly)
c.791A>G (p.Glu264Gly)
c.1082A>G (p.Glu361Gly)
c.1080+11A>G (n.1080+11A>G)
4g.154569646A>TCA358515076FGBc.1091A>T (p.Glu364Val)
n.939+339A>T
c.434A>T (p.Glu145Val)
c.914A>T (p.Glu305Val)
c.959A>T (p.Glu320Val)
c.791A>T (p.Glu264Val)
c.1082A>T (p.Glu361Val)
c.1080+11A>T (n.1080+11A>T)
4g.154569647A=CA1504935397FGBc.1092A= (p.Glu364=)
n.939+340A=
c.435A= (p.Glu145=)
c.915A= (p.Glu305=)
c.960A= (p.Glu320=)
c.792A= (p.Glu264=)
c.1083A= (p.Glu361=)
c.1080+12A= (n.1080+12A=)
4g.154569647A>CCA358515080FGBc.1092A>C (p.Glu364Asp)
n.939+340A>C
c.435A>C (p.Glu145Asp)
c.915A>C (p.Glu305Asp)
c.960A>C (p.Glu320Asp)
c.792A>C (p.Glu264Asp)
c.1083A>C (p.Glu361Asp)
c.1080+12A>C (n.1080+12A>C)
4g.154569647A>GCA108751653FGBc.1092A>G (p.Glu364=)
n.939+340A>G
c.435A>G (p.Glu145=)
c.915A>G (p.Glu305=)
c.960A>G (p.Glu320=)
c.792A>G (p.Glu264=)
c.1083A>G (p.Glu361=)
c.1080+12A>G (n.1080+12A>G)
dbSNP
4g.154569647A>TCA358515081FGBc.1092A>T (p.Glu364Asp)
n.939+340A>T
c.435A>T (p.Glu145Asp)
c.915A>T (p.Glu305Asp)
c.960A>T (p.Glu320Asp)
c.792A>T (p.Glu264Asp)
c.1083A>T (p.Glu361Asp)
c.1080+12A>T (n.1080+12A>T)
4g.154569648G>ACA126431FGBc.1093G>A (p.Ala365Thr)
n.939+341G>A
c.436G>A (p.Ala146Thr)
c.916G>A (p.Ala306Thr)
c.961G>A (p.Ala321Thr)
c.793G>A (p.Ala265Thr)
c.1084G>A (p.Ala362Thr)
c.1080+13G>A (n.1080+13G>A)
ClinVar dbSNP
4g.154569648G>CCA358515084FGBc.1093G>C (p.Ala365Pro)
n.939+341G>C
c.436G>C (p.Ala146Pro)
c.916G>C (p.Ala306Pro)
c.961G>C (p.Ala321Pro)
c.793G>C (p.Ala265Pro)
c.1084G>C (p.Ala362Pro)
c.1080+13G>C (n.1080+13G>C)
4g.154569648G=CA1504935402FGBc.1093G= (p.Ala365=)
n.939+341G=
c.436G= (p.Ala146=)
c.916G= (p.Ala306=)
c.961G= (p.Ala321=)
c.793G= (p.Ala265=)
c.1084G= (p.Ala362=)
c.1080+13G= (n.1080+13G=)
4g.154569648G>TCA358515085FGBc.1093G>T (p.Ala365Ser)
n.939+341G>T
c.436G>T (p.Ala146Ser)
c.916G>T (p.Ala306Ser)
c.961G>T (p.Ala321Ser)
c.793G>T (p.Ala265Ser)
c.1084G>T (p.Ala362Ser)
c.1080+13G>T (n.1080+13G>T)
4g.154569649C>ACA358515087FGBc.1094C>A (p.Ala365Asp)
n.939+342C>A
c.437C>A (p.Ala146Asp)
c.917C>A (p.Ala306Asp)
c.962C>A (p.Ala321Asp)
c.794C>A (p.Ala265Asp)
c.1085C>A (p.Ala362Asp)
c.1080+14C>A (n.1080+14C>A)
4g.154569649C>GCA358515088FGBc.1094C>G (p.Ala365Gly)
n.939+342C>G
c.437C>G (p.Ala146Gly)
c.917C>G (p.Ala306Gly)
c.962C>G (p.Ala321Gly)
c.794C>G (p.Ala265Gly)
c.1085C>G (p.Ala362Gly)
c.1080+14C>G (n.1080+14C>G)
4g.154569649C>TCA358515090FGBc.1094C>T (p.Ala365Val)
n.939+342C>T
c.437C>T (p.Ala146Val)
c.917C>T (p.Ala306Val)
c.962C>T (p.Ala321Val)
c.794C>T (p.Ala265Val)
c.1085C>T (p.Ala362Val)
c.1080+14C>T (n.1080+14C>T)
4g.154569650C>ACA442013385FGBc.1095C>A (p.Ala365=)
n.939+343C>A
c.438C>A (p.Ala146=)
c.918C>A (p.Ala306=)
c.963C>A (p.Ala321=)
c.795C>A (p.Ala265=)
c.1086C>A (p.Ala362=)
c.1080+15C>A (n.1080+15C>A)
4g.154569650C>GCA442013386FGBc.1095C>G (p.Ala365=)
n.939+343C>G
c.438C>G (p.Ala146=)
c.918C>G (p.Ala306=)
c.963C>G (p.Ala321=)
c.795C>G (p.Ala265=)
c.1086C>G (p.Ala362=)
c.1080+15C>G (n.1080+15C>G)
4g.154569650C>TCA442013387FGBc.1095C>T (p.Ala365=)
n.939+343C>T
c.438C>T (p.Ala146=)
c.918C>T (p.Ala306=)
c.963C>T (p.Ala321=)
c.795C>T (p.Ala265=)
c.1086C>T (p.Ala362=)
c.1080+15C>T (n.1080+15C>T)
gnomAD v4
4g.154569651A>CCA358515092FGBc.1096A>C (p.Asn366His)
n.939+344A>C
c.439A>C (p.Asn147His)
c.919A>C (p.Asn307His)
c.964A>C (p.Asn322His)
c.796A>C (p.Asn266His)
c.1087A>C (p.Asn363His)
c.1080+16A>C (n.1080+16A>C)
4g.154569651A>GCA358515094FGBc.1096A>G (p.Asn366Asp)
n.939+344A>G
c.439A>G (p.Asn147Asp)
c.919A>G (p.Asn307Asp)
c.964A>G (p.Asn322Asp)
c.796A>G (p.Asn266Asp)
c.1087A>G (p.Asn363Asp)
c.1080+16A>G (n.1080+16A>G)
4g.154569651A>TCA358515095FGBc.1096A>T (p.Asn366Tyr)
n.939+344A>T
c.439A>T (p.Asn147Tyr)
c.919A>T (p.Asn307Tyr)
c.964A>T (p.Asn322Tyr)
c.796A>T (p.Asn266Tyr)
c.1087A>T (p.Asn363Tyr)
c.1080+16A>T (n.1080+16A>T)
4g.154569652A=CA1504935408FGBc.1097A= (p.Asn366=)
n.939+345A=
c.440A= (p.Asn147=)
c.920A= (p.Asn307=)
c.965A= (p.Asn322=)
c.797A= (p.Asn266=)
c.1088A= (p.Asn363=)
c.1080+17A= (n.1080+17A=)
4g.154569652A>CCA358515100FGBc.1097A>C (p.Asn366Thr)
n.939+345A>C
c.440A>C (p.Asn147Thr)
c.920A>C (p.Asn307Thr)
c.965A>C (p.Asn322Thr)
c.797A>C (p.Asn266Thr)
c.1088A>C (p.Asn363Thr)
c.1080+17A>C (n.1080+17A>C)
4g.154569652A>GCA358515098FGBc.1097A>G (p.Asn366Ser)
n.939+345A>G
c.440A>G (p.Asn147Ser)
c.920A>G (p.Asn307Ser)
c.965A>G (p.Asn322Ser)
c.797A>G (p.Asn266Ser)
c.1088A>G (p.Asn363Ser)
c.1080+17A>G (n.1080+17A>G)
dbSNP gnomAD v4 COSMIC
4g.154569652A>TCA358515097FGBc.1097A>T (p.Asn366Ile)
n.939+345A>T
c.440A>T (p.Asn147Ile)
c.920A>T (p.Asn307Ile)
c.965A>T (p.Asn322Ile)
c.797A>T (p.Asn266Ile)
c.1088A>T (p.Asn363Ile)
c.1080+17A>T (n.1080+17A>T)
4g.154569653C>ACA358515101FGBc.1098C>A (p.Asn366Lys)
n.939+346C>A
c.441C>A (p.Asn147Lys)
c.921C>A (p.Asn307Lys)
c.966C>A (p.Asn322Lys)
c.798C>A (p.Asn266Lys)
c.1089C>A (p.Asn363Lys)
c.1080+18C>A (n.1080+18C>A)
dbSNP
4g.154569653C=CA1504935412FGBc.1098C= (p.Asn366=)
n.939+346C=
c.441C= (p.Asn147=)
c.921C= (p.Asn307=)
c.966C= (p.Asn322=)
c.798C= (p.Asn266=)
c.1089C= (p.Asn363=)
c.1080+18C= (n.1080+18C=)
4g.154569653C>GCA358515103FGBc.1098C>G (p.Asn366Lys)
n.939+346C>G
c.441C>G (p.Asn147Lys)
c.921C>G (p.Asn307Lys)
c.966C>G (p.Asn322Lys)
c.798C>G (p.Asn266Lys)
c.1089C>G (p.Asn363Lys)
c.1080+18C>G (n.1080+18C>G)
4g.154569653C>TCA442013390FGBc.1098C>T (p.Asn366=)
n.939+346C>T
c.441C>T (p.Asn147=)
c.921C>T (p.Asn307=)
c.966C>T (p.Asn322=)
c.798C>T (p.Asn266=)
c.1089C>T (p.Asn363=)
c.1080+18C>T (n.1080+18C>T)
dbSNP
4g.154569654A>CCA358515105FGBc.1099A>C (p.Lys367Gln)
n.939+347A>C
c.442A>C (p.Lys148Gln)
c.922A>C (p.Lys308Gln)
c.967A>C (p.Lys323Gln)
c.799A>C (p.Lys267Gln)
c.1090A>C (p.Lys364Gln)
c.1080+19A>C (n.1080+19A>C)
4g.154569654A>GCA358515107FGBc.1099A>G (p.Lys367Glu)
n.939+347A>G
c.442A>G (p.Lys148Glu)
c.922A>G (p.Lys308Glu)
c.967A>G (p.Lys323Glu)
c.799A>G (p.Lys267Glu)
c.1090A>G (p.Lys364Glu)
c.1080+19A>G (n.1080+19A>G)
4g.154569654A>TCA358515108FGBc.1099A>T (p.Lys367Ter)
n.939+347A>T
c.442A>T (p.Lys148Ter)
c.922A>T (p.Lys308Ter)
c.967A>T (p.Lys323Ter)
c.799A>T (p.Lys267Ter)
c.1090A>T (p.Lys364Ter)
c.1080+19A>T (n.1080+19A>T)
4g.154569655A=CA1504935416FGBc.1100A= (p.Lys367=)
n.939+348A=
c.443A= (p.Lys148=)
c.923A= (p.Lys308=)
c.968A= (p.Lys323=)
c.800A= (p.Lys267=)
c.1091A= (p.Lys364=)
c.1080+20A= (n.1080+20A=)
4g.154569655A>CCA358515110FGBc.1100A>C (p.Lys367Thr)
n.939+348A>C
c.443A>C (p.Lys148Thr)
c.923A>C (p.Lys308Thr)
c.968A>C (p.Lys323Thr)
c.800A>C (p.Lys267Thr)
c.1091A>C (p.Lys364Thr)
c.1080+20A>C (n.1080+20A>C)
4g.154569655A>GCA358515111FGBc.1100A>G (p.Lys367Arg)
n.939+348A>G
c.443A>G (p.Lys148Arg)
c.923A>G (p.Lys308Arg)
c.968A>G (p.Lys323Arg)
c.800A>G (p.Lys267Arg)
c.1091A>G (p.Lys364Arg)
c.1080+20A>G (n.1080+20A>G)
dbSNP gnomAD v3 gnomAD v4
4g.154569655A>TCA358515112FGBc.1100A>T (p.Lys367Ile)
n.939+348A>T
c.443A>T (p.Lys148Ile)
c.923A>T (p.Lys308Ile)
c.968A>T (p.Lys323Ile)
c.800A>T (p.Lys267Ile)
c.1091A>T (p.Lys364Ile)
c.1080+20A>T (n.1080+20A>T)
4g.154569656A=CA1504935419FGBc.1101A= (p.Lys367=)
n.939+349A=
c.444A= (p.Lys148=)
c.924A= (p.Lys308=)
c.969A= (p.Lys323=)
c.801A= (p.Lys267=)
c.1092A= (p.Lys364=)
c.1080+21A= (n.1080+21A=)
4g.154569656A>CCA358515114FGBc.1101A>C (p.Lys367Asn)
n.939+349A>C
c.444A>C (p.Lys148Asn)
c.924A>C (p.Lys308Asn)
c.969A>C (p.Lys323Asn)
c.801A>C (p.Lys267Asn)
c.1092A>C (p.Lys364Asn)
c.1080+21A>C (n.1080+21A>C)
4g.154569656A>GCA442013396FGBc.1101A>G (p.Lys367=)
n.939+349A>G
c.444A>G (p.Lys148=)
c.924A>G (p.Lys308=)
c.969A>G (p.Lys323=)
c.801A>G (p.Lys267=)
c.1092A>G (p.Lys364=)
c.1080+21A>G (n.1080+21A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569656A>TCA358515115FGBc.1101A>T (p.Lys367Asn)
n.939+349A>T
c.444A>T (p.Lys148Asn)
c.924A>T (p.Lys308Asn)
c.969A>T (p.Lys323Asn)
c.801A>T (p.Lys267Asn)
c.1092A>T (p.Lys364Asn)
c.1080+21A>T (n.1080+21A>T)
4g.154569657T>ACA358515117FGBc.1102T>A (p.Tyr368Asn)
n.939+350T>A
c.445T>A (p.Tyr149Asn)
c.925T>A (p.Tyr309Asn)
c.970T>A (p.Tyr324Asn)
c.802T>A (p.Tyr268Asn)
c.1093T>A (p.Tyr365Asn)
c.1080+22T>A (n.1080+22T>A)
4g.154569657T>CCA358515119FGBc.1102T>C (p.Tyr368His)
n.939+350T>C
c.445T>C (p.Tyr149His)
c.925T>C (p.Tyr309His)
c.970T>C (p.Tyr324His)
c.802T>C (p.Tyr268His)
c.1093T>C (p.Tyr365His)
c.1080+22T>C (n.1080+22T>C)
gnomAD v4
4g.154569657T>GCA358515120FGBc.1102T>G (p.Tyr368Asp)
n.939+350T>G
c.445T>G (p.Tyr149Asp)
c.925T>G (p.Tyr309Asp)
c.970T>G (p.Tyr324Asp)
c.802T>G (p.Tyr268Asp)
c.1093T>G (p.Tyr365Asp)
c.1080+22T>G (n.1080+22T>G)
4g.154569658A>CCA358515123FGBc.1103A>C (p.Tyr368Ser)
n.939+351A>C
c.446A>C (p.Tyr149Ser)
c.926A>C (p.Tyr309Ser)
c.971A>C (p.Tyr324Ser)
c.803A>C (p.Tyr268Ser)
c.1094A>C (p.Tyr365Ser)
c.1080+23A>C (n.1080+23A>C)
4g.154569658A>GCA358515125FGBc.1103A>G (p.Tyr368Cys)
n.939+351A>G
c.446A>G (p.Tyr149Cys)
c.926A>G (p.Tyr309Cys)
c.971A>G (p.Tyr324Cys)
c.803A>G (p.Tyr268Cys)
c.1094A>G (p.Tyr365Cys)
c.1080+23A>G (n.1080+23A>G)
COSMIC
4g.154569658A>TCA358515121FGBc.1103A>T (p.Tyr368Phe)
n.939+351A>T
c.446A>T (p.Tyr149Phe)
c.926A>T (p.Tyr309Phe)
c.971A>T (p.Tyr324Phe)
c.803A>T (p.Tyr268Phe)
c.1094A>T (p.Tyr365Phe)
c.1080+23A>T (n.1080+23A>T)
4g.154569659C>ACA358515126FGBc.1104C>A (p.Tyr368Ter)
n.939+352C>A
c.447C>A (p.Tyr149Ter)
c.927C>A (p.Tyr309Ter)
c.972C>A (p.Tyr324Ter)
c.804C>A (p.Tyr268Ter)
c.1095C>A (p.Tyr365Ter)
c.1080+24C>A (n.1080+24C>A)
4g.154569659C>GCA358515127FGBc.1104C>G (p.Tyr368Ter)
n.939+352C>G
c.447C>G (p.Tyr149Ter)
c.927C>G (p.Tyr309Ter)
c.972C>G (p.Tyr324Ter)
c.804C>G (p.Tyr268Ter)
c.1095C>G (p.Tyr365Ter)
c.1080+24C>G (n.1080+24C>G)
dbSNP
4g.154569659C>TCA442013400FGBc.1104C>T (p.Tyr368=)
n.939+352C>T
c.447C>T (p.Tyr149=)
c.927C>T (p.Tyr309=)
c.972C>T (p.Tyr324=)
c.804C>T (p.Tyr268=)
c.1095C>T (p.Tyr365=)
c.1080+24C>T (n.1080+24C>T)
4g.154569660C>ACA358515129FGBc.1105C>A (p.Gln369Lys)
n.939+353C>A
c.448C>A (p.Gln150Lys)
c.928C>A (p.Gln310Lys)
c.973C>A (p.Gln325Lys)
c.805C>A (p.Gln269Lys)
c.1096C>A (p.Gln366Lys)
c.1080+25C>A (n.1080+25C>A)
4g.154569660C=CA1504935421FGBc.1105C= (p.Gln369=)
n.939+353C=
c.448C= (p.Gln150=)
c.928C= (p.Gln310=)
c.973C= (p.Gln325=)
c.805C= (p.Gln269=)
c.1096C= (p.Gln366=)
c.1080+25C= (n.1080+25C=)
4g.154569660C>GCA358515131FGBc.1105C>G (p.Gln369Glu)
n.939+353C>G
c.448C>G (p.Gln150Glu)
c.928C>G (p.Gln310Glu)
c.973C>G (p.Gln325Glu)
c.805C>G (p.Gln269Glu)
c.1096C>G (p.Gln366Glu)
c.1080+25C>G (n.1080+25C>G)
4g.154569660C>TCA108751657FGBc.1105C>T (p.Gln369Ter)
n.939+353C>T
c.448C>T (p.Gln150Ter)
c.928C>T (p.Gln310Ter)
c.973C>T (p.Gln325Ter)
c.805C>T (p.Gln269Ter)
c.1096C>T (p.Gln366Ter)
c.1080+25C>T (n.1080+25C>T)
dbSNP
4g.154569661A>CCA358515135FGBc.1106A>C (p.Gln369Pro)
n.939+354A>C
c.449A>C (p.Gln150Pro)
c.929A>C (p.Gln310Pro)
c.974A>C (p.Gln325Pro)
c.806A>C (p.Gln269Pro)
c.1097A>C (p.Gln366Pro)
c.1080+26A>C (n.1080+26A>C)
4g.154569661A>GCA358515136FGBc.1106A>G (p.Gln369Arg)
n.939+354A>G
c.449A>G (p.Gln150Arg)
c.929A>G (p.Gln310Arg)
c.974A>G (p.Gln325Arg)
c.806A>G (p.Gln269Arg)
c.1097A>G (p.Gln366Arg)
c.1080+26A>G (n.1080+26A>G)
4g.154569661A>TCA358515137FGBc.1106A>T (p.Gln369Leu)
n.939+354A>T
c.449A>T (p.Gln150Leu)
c.929A>T (p.Gln310Leu)
c.974A>T (p.Gln325Leu)
c.806A>T (p.Gln269Leu)
c.1097A>T (p.Gln366Leu)
c.1080+26A>T (n.1080+26A>T)
4g.154569662G>ACA442013403FGBc.1107G>A (p.Gln369=)
n.939+355G>A
c.450G>A (p.Gln150=)
c.930G>A (p.Gln310=)
c.975G>A (p.Gln325=)
c.807G>A (p.Gln269=)
c.1098G>A (p.Gln366=)
c.1080+27G>A (n.1080+27G>A)
dbSNP
4g.154569662G>CCA358515139FGBc.1107G>C (p.Gln369His)
n.939+355G>C
c.450G>C (p.Gln150His)
c.930G>C (p.Gln310His)
c.975G>C (p.Gln325His)
c.807G>C (p.Gln269His)
c.1098G>C (p.Gln366His)
c.1080+27G>C (n.1080+27G>C)
4g.154569662G=CA1504935425FGBc.1107G= (p.Gln369=)
n.939+355G=
c.450G= (p.Gln150=)
c.930G= (p.Gln310=)
c.975G= (p.Gln325=)
c.807G= (p.Gln269=)
c.1098G= (p.Gln366=)
c.1080+27G= (n.1080+27G=)
4g.154569662G>TCA358515141FGBc.1107G>T (p.Gln369His)
n.939+355G>T
c.450G>T (p.Gln150His)
c.930G>T (p.Gln310His)
c.975G>T (p.Gln325His)
c.807G>T (p.Gln269His)
c.1098G>T (p.Gln366His)
c.1080+27G>T (n.1080+27G>T)
4g.154569663A=CA1504935429FGBc.1108A= (p.Ile370=)
n.939+356A=
c.451A= (p.Ile151=)
c.931A= (p.Ile311=)
c.976A= (p.Ile326=)
c.808A= (p.Ile270=)
c.1099A= (p.Ile367=)
c.1080+28A= (n.1080+28A=)
4g.154569663A>CCA358515146FGBc.1108A>C (p.Ile370Leu)
n.939+356A>C
c.451A>C (p.Ile151Leu)
c.931A>C (p.Ile311Leu)
c.976A>C (p.Ile326Leu)
c.808A>C (p.Ile270Leu)
c.1099A>C (p.Ile367Leu)
c.1080+28A>C (n.1080+28A>C)
4g.154569663A>GCA358515144FGBc.1108A>G (p.Ile370Val)
n.939+356A>G
c.451A>G (p.Ile151Val)
c.931A>G (p.Ile311Val)
c.976A>G (p.Ile326Val)
c.808A>G (p.Ile270Val)
c.1099A>G (p.Ile367Val)
c.1080+28A>G (n.1080+28A>G)
dbSNP
4g.154569663A>TCA358515143FGBc.1108A>T (p.Ile370Phe)
n.939+356A>T
c.451A>T (p.Ile151Phe)
c.931A>T (p.Ile311Phe)
c.976A>T (p.Ile326Phe)
c.808A>T (p.Ile270Phe)
c.1099A>T (p.Ile367Phe)
c.1080+28A>T (n.1080+28A>T)
4g.154569664T>ACA358515147FGBc.1109T>A (p.Ile370Asn)
n.939+357T>A
c.452T>A (p.Ile151Asn)
c.932T>A (p.Ile311Asn)
c.977T>A (p.Ile326Asn)
c.809T>A (p.Ile270Asn)
c.1100T>A (p.Ile367Asn)
c.1080+29T>A (n.1080+29T>A)
4g.154569664T>CCA358515148FGBc.1109T>C (p.Ile370Thr)
n.939+357T>C
c.452T>C (p.Ile151Thr)
c.932T>C (p.Ile311Thr)
c.977T>C (p.Ile326Thr)
c.809T>C (p.Ile270Thr)
c.1100T>C (p.Ile367Thr)
c.1080+29T>C (n.1080+29T>C)
COSMIC
4g.154569664T>GCA358515149FGBc.1109T>G (p.Ile370Ser)
n.939+357T>G
c.452T>G (p.Ile151Ser)
c.932T>G (p.Ile311Ser)
c.977T>G (p.Ile326Ser)
c.809T>G (p.Ile270Ser)
c.1100T>G (p.Ile367Ser)
c.1080+29T>G (n.1080+29T>G)
4g.154569665C>ACA442013408FGBc.1110C>A (p.Ile370=)
n.939+358C>A
c.453C>A (p.Ile151=)
c.933C>A (p.Ile311=)
c.978C>A (p.Ile326=)
c.810C>A (p.Ile270=)
c.1101C>A (p.Ile367=)
c.1080+30C>A (n.1080+30C>A)
4g.154569665C=CA1504935432FGBc.1110C= (p.Ile370=)
n.939+358C=
c.453C= (p.Ile151=)
c.933C= (p.Ile311=)
c.978C= (p.Ile326=)
c.810C= (p.Ile270=)
c.1101C= (p.Ile367=)
c.1080+30C= (n.1080+30C=)
4g.154569665C>GCA3114719FGBc.1110C>G (p.Ile370Met)
n.939+358C>G
c.453C>G (p.Ile151Met)
c.933C>G (p.Ile311Met)
c.978C>G (p.Ile326Met)
c.810C>G (p.Ile270Met)
c.1101C>G (p.Ile367Met)
c.1080+30C>G (n.1080+30C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569665C>TCA3114720FGBc.1110C>T (p.Ile370=)
n.939+358C>T
c.453C>T (p.Ile151=)
c.933C>T (p.Ile311=)
c.978C>T (p.Ile326=)
c.810C>T (p.Ile270=)
c.1101C>T (p.Ile367=)
c.1080+30C>T (n.1080+30C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569666T>ACA358515151FGBc.1111T>A (p.Ser371Thr)
n.939+359T>A
c.454T>A (p.Ser152Thr)
c.934T>A (p.Ser312Thr)
c.979T>A (p.Ser327Thr)
c.811T>A (p.Ser271Thr)
c.1102T>A (p.Ser368Thr)
c.1080+31T>A (n.1080+31T>A)
gnomAD v4
4g.154569666T>CCA358515152FGBc.1111T>C (p.Ser371Pro)
n.939+359T>C
c.454T>C (p.Ser152Pro)
c.934T>C (p.Ser312Pro)
c.979T>C (p.Ser327Pro)
c.811T>C (p.Ser271Pro)
c.1102T>C (p.Ser368Pro)
c.1080+31T>C (n.1080+31T>C)
4g.154569666T>GCA358515154FGBc.1111T>G (p.Ser371Ala)
n.939+359T>G
c.454T>G (p.Ser152Ala)
c.934T>G (p.Ser312Ala)
c.979T>G (p.Ser327Ala)
c.811T>G (p.Ser271Ala)
c.1102T>G (p.Ser368Ala)
c.1080+31T>G (n.1080+31T>G)
4g.154569667C>ACA358515156FGBc.1112C>A (p.Ser371Ter)
n.939+360C>A
c.455C>A (p.Ser152Ter)
c.935C>A (p.Ser312Ter)
c.980C>A (p.Ser327Ter)
c.812C>A (p.Ser271Ter)
c.1103C>A (p.Ser368Ter)
c.1080+32C>A (n.1080+32C>A)
4g.154569667C>GCA358515157FGBc.1112C>G (p.Ser371Ter)
n.939+360C>G
c.455C>G (p.Ser152Ter)
c.935C>G (p.Ser312Ter)
c.980C>G (p.Ser327Ter)
c.812C>G (p.Ser271Ter)
c.1103C>G (p.Ser368Ter)
c.1080+32C>G (n.1080+32C>G)
4g.154569667C>TCA358515158FGBc.1112C>T (p.Ser371Leu)
n.939+360C>T
c.455C>T (p.Ser152Leu)
c.935C>T (p.Ser312Leu)
c.980C>T (p.Ser327Leu)
c.812C>T (p.Ser271Leu)
c.1103C>T (p.Ser368Leu)
c.1080+32C>T (n.1080+32C>T)
COSMIC
4g.154569668A=CA1504935436FGBc.1113A= (p.Ser371=)
n.939+361A=
c.456A= (p.Ser152=)
c.936A= (p.Ser312=)
c.981A= (p.Ser327=)
c.813A= (p.Ser271=)
c.1104A= (p.Ser368=)
c.1080+33A= (n.1080+33A=)
4g.154569668A>CCA442013413FGBc.1113A>C (p.Ser371=)
n.939+361A>C
c.456A>C (p.Ser152=)
c.936A>C (p.Ser312=)
c.981A>C (p.Ser327=)
c.813A>C (p.Ser271=)
c.1104A>C (p.Ser368=)
c.1080+33A>C (n.1080+33A>C)
4g.154569668A>GCA3114721FGBc.1113A>G (p.Ser371=)
n.939+361A>G
c.456A>G (p.Ser152=)
c.936A>G (p.Ser312=)
c.981A>G (p.Ser327=)
c.813A>G (p.Ser271=)
c.1104A>G (p.Ser368=)
c.1080+33A>G (n.1080+33A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569668A>TCA442013414FGBc.1113A>T (p.Ser371=)
n.939+361A>T
c.456A>T (p.Ser152=)
c.936A>T (p.Ser312=)
c.981A>T (p.Ser327=)
c.813A>T (p.Ser271=)
c.1104A>T (p.Ser368=)
c.1080+33A>T (n.1080+33A>T)
gnomAD v4
4g.154569668_154569669delCA2672441406FGBc.1113_1114del (p.Val372GlufsTer9)
n.939+361_939+362del
c.456_457del (p.Val153GlufsTer9)
c.936_937del (p.Val313GlufsTer9)
c.981_982del (p.Val328GlufsTer9)
c.813_814del (p.Val272GlufsTer9)
c.1104_1105del (p.Val369GlufsTer9)
c.1080+33_1080+34del (n.1080+33_1080+34del)
gnomAD v4
4g.154569669G>ACA108751677FGBc.1114G>A (p.Val372Met)
n.939+362G>A
c.457G>A (p.Val153Met)
c.937G>A (p.Val313Met)
c.982G>A (p.Val328Met)
c.814G>A (p.Val272Met)
c.1105G>A (p.Val369Met)
c.1080+34G>A (n.1080+34G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569669G>CCA358515163FGBc.1114G>C (p.Val372Leu)
n.939+362G>C
c.457G>C (p.Val153Leu)
c.937G>C (p.Val313Leu)
c.982G>C (p.Val328Leu)
c.814G>C (p.Val272Leu)
c.1105G>C (p.Val369Leu)
c.1080+34G>C (n.1080+34G>C)
4g.154569669G=CA1504935441FGBc.1114G= (p.Val372=)
n.939+362G=
c.457G= (p.Val153=)
c.937G= (p.Val313=)
c.982G= (p.Val328=)
c.814G= (p.Val272=)
c.1105G= (p.Val369=)
c.1080+34G= (n.1080+34G=)
4g.154569669G>TCA358515161FGBc.1114G>T (p.Val372Leu)
n.939+362G>T
c.457G>T (p.Val153Leu)
c.937G>T (p.Val313Leu)
c.982G>T (p.Val328Leu)
c.814G>T (p.Val272Leu)
c.1105G>T (p.Val369Leu)
c.1080+34G>T (n.1080+34G>T)
4g.154569670T>ACA358515164FGBc.1115T>A (p.Val372Glu)
n.939+363T>A
c.458T>A (p.Val153Glu)
c.938T>A (p.Val313Glu)
c.983T>A (p.Val328Glu)
c.815T>A (p.Val272Glu)
c.1106T>A (p.Val369Glu)
c.1080+35T>A (n.1080+35T>A)
4g.154569670T>CCA358515166FGBc.1115T>C (p.Val372Ala)
n.939+363T>C
c.458T>C (p.Val153Ala)
c.938T>C (p.Val313Ala)
c.983T>C (p.Val328Ala)
c.815T>C (p.Val272Ala)
c.1106T>C (p.Val369Ala)
c.1080+35T>C (n.1080+35T>C)
4g.154569670T>GCA358515167FGBc.1115T>G (p.Val372Gly)
n.939+363T>G
c.458T>G (p.Val153Gly)
c.938T>G (p.Val313Gly)
c.983T>G (p.Val328Gly)
c.815T>G (p.Val272Gly)
c.1106T>G (p.Val369Gly)
c.1080+35T>G (n.1080+35T>G)
4g.154569671G>ACA442013416FGBc.1116G>A (p.Val372=)
n.939+364G>A
c.459G>A (p.Val153=)
c.939G>A (p.Val313=)
c.984G>A (p.Val328=)
c.816G>A (p.Val272=)
c.1107G>A (p.Val369=)
c.1080+36G>A (n.1080+36G>A)
4g.154569671G>CCA442013417FGBc.1116G>C (p.Val372=)
n.939+364G>C
c.459G>C (p.Val153=)
c.939G>C (p.Val313=)
c.984G>C (p.Val328=)
c.816G>C (p.Val272=)
c.1107G>C (p.Val369=)
c.1080+36G>C (n.1080+36G>C)
4g.154569671G>TCA442013418FGBc.1116G>T (p.Val372=)
n.939+364G>T
c.459G>T (p.Val153=)
c.939G>T (p.Val313=)
c.984G>T (p.Val328=)
c.816G>T (p.Val272=)
c.1107G>T (p.Val369=)
c.1080+36G>T (n.1080+36G>T)
4g.154569672A=CA1504935449FGBc.1117A= (p.Asn373=)
n.939+365A=
c.460A= (p.Asn154=)
c.940A= (p.Asn314=)
c.985A= (p.Asn329=)
c.817A= (p.Asn273=)
c.1108A= (p.Asn370=)
c.1080+37A= (n.1080+37A=)
4g.154569672A>CCA358515169FGBc.1117A>C (p.Asn373His)
n.939+365A>C
c.460A>C (p.Asn154His)
c.940A>C (p.Asn314His)
c.985A>C (p.Asn329His)
c.817A>C (p.Asn273His)
c.1108A>C (p.Asn370His)
c.1080+37A>C (n.1080+37A>C)
4g.154569672A>GCA358515170FGBc.1117A>G (p.Asn373Asp)
n.939+365A>G
c.460A>G (p.Asn154Asp)
c.940A>G (p.Asn314Asp)
c.985A>G (p.Asn329Asp)
c.817A>G (p.Asn273Asp)
c.1108A>G (p.Asn370Asp)
c.1080+37A>G (n.1080+37A>G)
4g.154569672A>TCA3114722FGBc.1117A>T (p.Asn373Tyr)
n.939+365A>T
c.460A>T (p.Asn154Tyr)
c.940A>T (p.Asn314Tyr)
c.985A>T (p.Asn329Tyr)
c.817A>T (p.Asn273Tyr)
c.1108A>T (p.Asn370Tyr)
c.1080+37A>T (n.1080+37A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569673A=CA1504935453FGBc.1118A= (p.Asn373=)
n.939+366A=
c.461A= (p.Asn154=)
c.941A= (p.Asn314=)
c.986A= (p.Asn329=)
c.818A= (p.Asn273=)
c.1109A= (p.Asn370=)
c.1080+38A= (n.1080+38A=)
4g.154569673A>CCA358515176FGBc.1118A>C (p.Asn373Thr)
n.939+366A>C
c.461A>C (p.Asn154Thr)
c.941A>C (p.Asn314Thr)
c.986A>C (p.Asn329Thr)
c.818A>C (p.Asn273Thr)
c.1109A>C (p.Asn370Thr)
c.1080+38A>C (n.1080+38A>C)
4g.154569673A>GCA358515173FGBc.1118A>G (p.Asn373Ser)
n.939+366A>G
c.461A>G (p.Asn154Ser)
c.941A>G (p.Asn314Ser)
c.986A>G (p.Asn329Ser)
c.818A>G (p.Asn273Ser)
c.1109A>G (p.Asn370Ser)
c.1080+38A>G (n.1080+38A>G)
dbSNP gnomAD v3 gnomAD v4
4g.154569673A>TCA358515174FGBc.1118A>T (p.Asn373Ile)
n.939+366A>T
c.461A>T (p.Asn154Ile)
c.941A>T (p.Asn314Ile)
c.986A>T (p.Asn329Ile)
c.818A>T (p.Asn273Ile)
c.1109A>T (p.Asn370Ile)
c.1080+38A>T (n.1080+38A>T)
4g.154569674C>ACA358515178FGBc.1119C>A (p.Asn373Lys)
n.939+367C>A
c.462C>A (p.Asn154Lys)
c.942C>A (p.Asn314Lys)
c.987C>A (p.Asn329Lys)
c.819C>A (p.Asn273Lys)
c.1110C>A (p.Asn370Lys)
c.1080+39C>A (n.1080+39C>A)
4g.154569674C>GCA358515179FGBc.1119C>G (p.Asn373Lys)
n.939+367C>G
c.462C>G (p.Asn154Lys)
c.942C>G (p.Asn314Lys)
c.987C>G (p.Asn329Lys)
c.819C>G (p.Asn273Lys)
c.1110C>G (p.Asn370Lys)
c.1080+39C>G (n.1080+39C>G)
4g.154569674C>TCA442013423FGBc.1119C>T (p.Asn373=)
n.939+367C>T
c.462C>T (p.Asn154=)
c.942C>T (p.Asn314=)
c.987C>T (p.Asn329=)
c.819C>T (p.Asn273=)
c.1110C>T (p.Asn370=)
c.1080+39C>T (n.1080+39C>T)
4g.154569675A>CCA358515181FGBc.1120A>C (p.Lys374Gln)
n.939+368A>C
c.463A>C (p.Lys155Gln)
c.943A>C (p.Lys315Gln)
c.988A>C (p.Lys330Gln)
c.820A>C (p.Lys274Gln)
c.1111A>C (p.Lys371Gln)
c.1080+40A>C (n.1080+40A>C)
4g.154569675A>GCA358515183FGBc.1120A>G (p.Lys374Glu)
n.939+368A>G
c.463A>G (p.Lys155Glu)
c.943A>G (p.Lys315Glu)
c.988A>G (p.Lys330Glu)
c.820A>G (p.Lys274Glu)
c.1111A>G (p.Lys371Glu)
c.1080+40A>G (n.1080+40A>G)
4g.154569675A>TCA358515185FGBc.1120A>T (p.Lys374Ter)
n.939+368A>T
c.463A>T (p.Lys155Ter)
c.943A>T (p.Lys315Ter)
c.988A>T (p.Lys330Ter)
c.820A>T (p.Lys274Ter)
c.1111A>T (p.Lys371Ter)
c.1080+40A>T (n.1080+40A>T)
4g.154569676A=CA1504935456FGBc.1121A= (p.Lys374=)
n.939+369A=
c.464A= (p.Lys155=)
c.944A= (p.Lys315=)
c.989A= (p.Lys330=)
c.821A= (p.Lys274=)
c.1112A= (p.Lys371=)
c.1080+41A= (n.1080+41A=)
4g.154569676A>CCA3114723FGBc.1121A>C (p.Lys374Thr)
n.939+369A>C
c.464A>C (p.Lys155Thr)
c.944A>C (p.Lys315Thr)
c.989A>C (p.Lys330Thr)
c.821A>C (p.Lys274Thr)
c.1112A>C (p.Lys371Thr)
c.1080+41A>C (n.1080+41A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569676A>GCA358515186FGBc.1121A>G (p.Lys374Arg)
n.939+369A>G
c.464A>G (p.Lys155Arg)
c.944A>G (p.Lys315Arg)
c.989A>G (p.Lys330Arg)
c.821A>G (p.Lys274Arg)
c.1112A>G (p.Lys371Arg)
c.1080+41A>G (n.1080+41A>G)
dbSNP gnomAD v4
4g.154569676A>TCA358515188FGBc.1121A>T (p.Lys374Ile)
n.939+369A>T
c.464A>T (p.Lys155Ile)
c.944A>T (p.Lys315Ile)
c.989A>T (p.Lys330Ile)
c.821A>T (p.Lys274Ile)
c.1112A>T (p.Lys371Ile)
c.1080+41A>T (n.1080+41A>T)
4g.154569677A>CCA358515191FGBc.1122A>C (p.Lys374Asn)
n.939+370A>C
c.465A>C (p.Lys155Asn)
c.945A>C (p.Lys315Asn)
c.990A>C (p.Lys330Asn)
c.822A>C (p.Lys274Asn)
c.1113A>C (p.Lys371Asn)
c.1080+42A>C (n.1080+42A>C)
4g.154569677A>GCA442013429FGBc.1122A>G (p.Lys374=)
n.939+370A>G
c.465A>G (p.Lys155=)
c.945A>G (p.Lys315=)
c.990A>G (p.Lys330=)
c.822A>G (p.Lys274=)
c.1113A>G (p.Lys371=)
c.1080+42A>G (n.1080+42A>G)
4g.154569677A>TCA358515192FGBc.1122A>T (p.Lys374Asn)
n.939+370A>T
c.465A>T (p.Lys155Asn)
c.945A>T (p.Lys315Asn)
c.990A>T (p.Lys330Asn)
c.822A>T (p.Lys274Asn)
c.1113A>T (p.Lys371Asn)
c.1080+42A>T (n.1080+42A>T)
4g.154569678T>ACA358515194FGBc.1123T>A (p.Tyr375Asn)
n.939+371T>A
c.466T>A (p.Tyr156Asn)
c.946T>A (p.Tyr316Asn)
c.991T>A (p.Tyr331Asn)
c.823T>A (p.Tyr275Asn)
c.1114T>A (p.Tyr372Asn)
c.1080+43T>A (n.1080+43T>A)
4g.154569678T>CCA358515195FGBc.1123T>C (p.Tyr375His)
n.939+371T>C
c.466T>C (p.Tyr156His)
c.946T>C (p.Tyr316His)
c.991T>C (p.Tyr331His)
c.823T>C (p.Tyr275His)
c.1114T>C (p.Tyr372His)
c.1080+43T>C (n.1080+43T>C)
4g.154569678T>GCA358515197FGBc.1123T>G (p.Tyr375Asp)
n.939+371T>G
c.466T>G (p.Tyr156Asp)
c.946T>G (p.Tyr316Asp)
c.991T>G (p.Tyr331Asp)
c.823T>G (p.Tyr275Asp)
c.1114T>G (p.Tyr372Asp)
c.1080+43T>G (n.1080+43T>G)
4g.154569679A=CA1504935460FGBc.1124A= (p.Tyr375=)
n.939+372A=
c.467A= (p.Tyr156=)
c.947A= (p.Tyr316=)
c.992A= (p.Tyr331=)
c.824A= (p.Tyr275=)
c.1115A= (p.Tyr372=)
c.1080+44A= (n.1080+44A=)
4g.154569679A>CCA358515199FGBc.1124A>C (p.Tyr375Ser)
n.939+372A>C
c.467A>C (p.Tyr156Ser)
c.947A>C (p.Tyr316Ser)
c.992A>C (p.Tyr331Ser)
c.824A>C (p.Tyr275Ser)
c.1115A>C (p.Tyr372Ser)
c.1080+44A>C (n.1080+44A>C)
4g.154569679A>GCA358515201FGBc.1124A>G (p.Tyr375Cys)
n.939+372A>G
c.467A>G (p.Tyr156Cys)
c.947A>G (p.Tyr316Cys)
c.992A>G (p.Tyr331Cys)
c.824A>G (p.Tyr275Cys)
c.1115A>G (p.Tyr372Cys)
c.1080+44A>G (n.1080+44A>G)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
4g.154569679A>TCA358515203FGBc.1124A>T (p.Tyr375Phe)
n.939+372A>T
c.467A>T (p.Tyr156Phe)
c.947A>T (p.Tyr316Phe)
c.992A>T (p.Tyr331Phe)
c.824A>T (p.Tyr275Phe)
c.1115A>T (p.Tyr372Phe)
c.1080+44A>T (n.1080+44A>T)
4g.154569680C>ACA358515204FGBc.1125C>A (p.Tyr375Ter)
n.939+373C>A
c.468C>A (p.Tyr156Ter)
c.948C>A (p.Tyr316Ter)
c.993C>A (p.Tyr331Ter)
c.825C>A (p.Tyr275Ter)
c.1116C>A (p.Tyr372Ter)
c.1080+45C>A (n.1080+45C>A)
4g.154569680C=CA1504935470FGBc.1125C= (p.Tyr375=)
n.939+373C=
c.468C= (p.Tyr156=)
c.948C= (p.Tyr316=)
c.993C= (p.Tyr331=)
c.825C= (p.Tyr275=)
c.1116C= (p.Tyr372=)
c.1080+45C= (n.1080+45C=)
4g.154569680C>GCA358515205FGBc.1125C>G (p.Tyr375Ter)
n.939+373C>G
c.468C>G (p.Tyr156Ter)
c.948C>G (p.Tyr316Ter)
c.993C>G (p.Tyr331Ter)
c.825C>G (p.Tyr275Ter)
c.1116C>G (p.Tyr372Ter)
c.1080+45C>G (n.1080+45C>G)
4g.154569680C>TCA3114724FGBc.1125C>T (p.Tyr375=)
n.939+373C>T
c.468C>T (p.Tyr156=)
c.948C>T (p.Tyr316=)
c.993C>T (p.Tyr331=)
c.825C>T (p.Tyr275=)
c.1116C>T (p.Tyr372=)
c.1080+45C>T (n.1080+45C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569681A=CA1504935477FGBc.1126A= (p.Arg376=)
n.939+374A=
c.469A= (p.Arg157=)
c.949A= (p.Arg317=)
c.994A= (p.Arg332=)
c.826A= (p.Arg276=)
c.1117A= (p.Arg373=)
c.1080+46A= (n.1080+46A=)
4g.154569681A>CCA442013437FGBc.1126A>C (p.Arg376=)
n.939+374A>C
c.469A>C (p.Arg157=)
c.949A>C (p.Arg317=)
c.994A>C (p.Arg332=)
c.826A>C (p.Arg276=)
c.1117A>C (p.Arg373=)
c.1080+46A>C (n.1080+46A>C)
4g.154569681A>GCA358515206FGBc.1126A>G (p.Arg376Gly)
n.939+374A>G
c.469A>G (p.Arg157Gly)
c.949A>G (p.Arg317Gly)
c.994A>G (p.Arg332Gly)
c.826A>G (p.Arg276Gly)
c.1117A>G (p.Arg373Gly)
c.1080+46A>G (n.1080+46A>G)
dbSNP gnomAD v2 gnomAD v4
4g.154569681A>TCA358515208FGBc.1126A>T (p.Arg376Ter)
n.939+374A>T
c.469A>T (p.Arg157Ter)
c.949A>T (p.Arg317Ter)
c.994A>T (p.Arg332Ter)
c.826A>T (p.Arg276Ter)
c.1117A>T (p.Arg373Ter)
c.1080+46A>T (n.1080+46A>T)
4g.154569682G>ACA358515209FGBc.1127G>A (p.Arg376Lys)
n.939+375G>A
c.470G>A (p.Arg157Lys)
c.950G>A (p.Arg317Lys)
c.995G>A (p.Arg332Lys)
c.827G>A (p.Arg276Lys)
c.1118G>A (p.Arg373Lys)
c.1080+47G>A (n.1080+47G>A)
dbSNP gnomAD v4
4g.154569682G>CCA358515211FGBc.1127G>C (p.Arg376Thr)
n.939+375G>C
c.470G>C (p.Arg157Thr)
c.950G>C (p.Arg317Thr)
c.995G>C (p.Arg332Thr)
c.827G>C (p.Arg276Thr)
c.1118G>C (p.Arg373Thr)
c.1080+47G>C (n.1080+47G>C)
4g.154569682G=CA1504935480FGBc.1127G= (p.Arg376=)
n.939+375G=
c.470G= (p.Arg157=)
c.950G= (p.Arg317=)
c.995G= (p.Arg332=)
c.827G= (p.Arg276=)
c.1118G= (p.Arg373=)
c.1080+47G= (n.1080+47G=)
4g.154569682G>TCA358515210FGBc.1127G>T (p.Arg376Ile)
n.939+375G>T
c.470G>T (p.Arg157Ile)
c.950G>T (p.Arg317Ile)
c.995G>T (p.Arg332Ile)
c.827G>T (p.Arg276Ile)
c.1118G>T (p.Arg373Ile)
c.1080+47G>T (n.1080+47G>T)
4g.154569683A=CA1504935482FGBc.1128A= (p.Arg376=)
n.939+376A=
c.471A= (p.Arg157=)
c.951A= (p.Arg317=)
c.996A= (p.Arg332=)
c.828A= (p.Arg276=)
c.1119A= (p.Arg373=)
c.1080+48A= (n.1080+48A=)
4g.154569683A>CCA358515212FGBc.1128A>C (p.Arg376Ser)
n.939+376A>C
c.471A>C (p.Arg157Ser)
c.951A>C (p.Arg317Ser)
c.996A>C (p.Arg332Ser)
c.828A>C (p.Arg276Ser)
c.1119A>C (p.Arg373Ser)
c.1080+48A>C (n.1080+48A>C)
4g.154569683A>GCA3114725FGBc.1128A>G (p.Arg376=)
n.939+376A>G
c.471A>G (p.Arg157=)
c.951A>G (p.Arg317=)
c.996A>G (p.Arg332=)
c.828A>G (p.Arg276=)
c.1119A>G (p.Arg373=)
c.1080+48A>G (n.1080+48A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569683A>TCA358515214FGBc.1128A>T (p.Arg376Ser)
n.939+376A>T
c.471A>T (p.Arg157Ser)
c.951A>T (p.Arg317Ser)
c.996A>T (p.Arg332Ser)
c.828A>T (p.Arg276Ser)
c.1119A>T (p.Arg373Ser)
c.1080+48A>T (n.1080+48A>T)
4g.154569684G>ACA358515216FGBc.1129G>A (p.Gly377Arg)
n.939+377G>A
c.472G>A (p.Gly158Arg)
c.952G>A (p.Gly318Arg)
c.997G>A (p.Gly333Arg)
c.829G>A (p.Gly277Arg)
c.1120G>A (p.Gly374Arg)
c.1080+49G>A (n.1080+49G>A)
gnomAD v4
4g.154569684G>CCA358515217FGBc.1129G>C (p.Gly377Arg)
n.939+377G>C
c.472G>C (p.Gly158Arg)
c.952G>C (p.Gly318Arg)
c.997G>C (p.Gly333Arg)
c.829G>C (p.Gly277Arg)
c.1120G>C (p.Gly374Arg)
c.1080+49G>C (n.1080+49G>C)
gnomAD v4
4g.154569684G>TCA358515219FGBc.1129G>T (p.Gly377Ter)
n.939+377G>T
c.472G>T (p.Gly158Ter)
c.952G>T (p.Gly318Ter)
c.997G>T (p.Gly333Ter)
c.829G>T (p.Gly277Ter)
c.1120G>T (p.Gly374Ter)
c.1080+49G>T (n.1080+49G>T)
4g.154569685G>ACA358515221FGBc.1130G>A (p.Gly377Glu)
n.939+378G>A
c.473G>A (p.Gly158Glu)
c.953G>A (p.Gly318Glu)
c.998G>A (p.Gly333Glu)
c.830G>A (p.Gly277Glu)
c.1121G>A (p.Gly374Glu)
c.1080+50G>A (n.1080+50G>A)
4g.154569685G>CCA358515223FGBc.1130G>C (p.Gly377Ala)
n.939+378G>C
c.473G>C (p.Gly158Ala)
c.953G>C (p.Gly318Ala)
c.998G>C (p.Gly333Ala)
c.830G>C (p.Gly277Ala)
c.1121G>C (p.Gly374Ala)
c.1080+50G>C (n.1080+50G>C)
4g.154569685G>TCA358515224FGBc.1130G>T (p.Gly377Val)
n.939+378G>T
c.473G>T (p.Gly158Val)
c.953G>T (p.Gly318Val)
c.998G>T (p.Gly333Val)
c.830G>T (p.Gly277Val)
c.1121G>T (p.Gly374Val)
c.1080+50G>T (n.1080+50G>T)
4g.154569686A=CA1504935485FGBc.1131A= (p.Gly377=)
n.939+379A=
c.474A= (p.Gly158=)
c.954A= (p.Gly318=)
c.999A= (p.Gly333=)
c.831A= (p.Gly277=)
c.1122A= (p.Gly374=)
c.1080+51A= (n.1080+51A=)
4g.154569686A>CCA442013445FGBc.1131A>C (p.Gly377=)
n.939+379A>C
c.474A>C (p.Gly158=)
c.954A>C (p.Gly318=)
c.999A>C (p.Gly333=)
c.831A>C (p.Gly277=)
c.1122A>C (p.Gly374=)
c.1080+51A>C (n.1080+51A>C)
4g.154569686A>GCA442013446FGBc.1131A>G (p.Gly377=)
n.939+379A>G
c.474A>G (p.Gly158=)
c.954A>G (p.Gly318=)
c.999A>G (p.Gly333=)
c.831A>G (p.Gly277=)
c.1122A>G (p.Gly374=)
c.1080+51A>G (n.1080+51A>G)
dbSNP
4g.154569686A>TCA442013448FGBc.1131A>T (p.Gly377=)
n.939+379A>T
c.474A>T (p.Gly158=)
c.954A>T (p.Gly318=)
c.999A>T (p.Gly333=)
c.831A>T (p.Gly277=)
c.1122A>T (p.Gly374=)
c.1080+51A>T (n.1080+51A>T)
4g.154569687A=CA1504935489FGBc.1132A= (p.Thr378=)
n.939+380A=
c.475A= (p.Thr159=)
c.955A= (p.Thr319=)
c.1000A= (p.Thr334=)
c.832A= (p.Thr278=)
c.1123A= (p.Thr375=)
c.1080+52A= (n.1080+52A=)
4g.154569687A>CCA3114726FGBc.1132A>C (p.Thr378Pro)
n.939+380A>C
c.475A>C (p.Thr159Pro)
c.955A>C (p.Thr319Pro)
c.1000A>C (p.Thr334Pro)
c.832A>C (p.Thr278Pro)
c.1123A>C (p.Thr375Pro)
c.1080+52A>C (n.1080+52A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569687A>GCA358515227FGBc.1132A>G (p.Thr378Ala)
n.939+380A>G
c.475A>G (p.Thr159Ala)
c.955A>G (p.Thr319Ala)
c.1000A>G (p.Thr334Ala)
c.832A>G (p.Thr278Ala)
c.1123A>G (p.Thr375Ala)
c.1080+52A>G (n.1080+52A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569687A>TCA358515228FGBc.1132A>T (p.Thr378Ser)
n.939+380A>T
c.475A>T (p.Thr159Ser)
c.955A>T (p.Thr319Ser)
c.1000A>T (p.Thr334Ser)
c.832A>T (p.Thr278Ser)
c.1123A>T (p.Thr375Ser)
c.1080+52A>T (n.1080+52A>T)
4g.154569688C>ACA358515234FGBc.1133C>A (p.Thr378Lys)
n.939+381C>A
c.476C>A (p.Thr159Lys)
c.956C>A (p.Thr319Lys)
c.1001C>A (p.Thr334Lys)
c.833C>A (p.Thr278Lys)
c.1124C>A (p.Thr375Lys)
c.1080+53C>A (n.1080+53C>A)
4g.154569688C>GCA358515233FGBc.1133C>G (p.Thr378Arg)
n.939+381C>G
c.476C>G (p.Thr159Arg)
c.956C>G (p.Thr319Arg)
c.1001C>G (p.Thr334Arg)
c.833C>G (p.Thr278Arg)
c.1124C>G (p.Thr375Arg)
c.1080+53C>G (n.1080+53C>G)
4g.154569688C>TCA358515231FGBc.1133C>T (p.Thr378Ile)
n.939+381C>T
c.476C>T (p.Thr159Ile)
c.956C>T (p.Thr319Ile)
c.1001C>T (p.Thr334Ile)
c.833C>T (p.Thr278Ile)
c.1124C>T (p.Thr375Ile)
c.1080+53C>T (n.1080+53C>T)
ClinVar gnomAD v4
4g.154569689A=CA1504935494FGBc.1134A= (p.Thr378=)
n.939+382A=
c.477A= (p.Thr159=)
c.957A= (p.Thr319=)
c.1002A= (p.Thr334=)
c.834A= (p.Thr278=)
c.1125A= (p.Thr375=)
c.1080+54A= (n.1080+54A=)
4g.154569689A>CCA442013453FGBc.1134A>C (p.Thr378=)
n.939+382A>C
c.477A>C (p.Thr159=)
c.957A>C (p.Thr319=)
c.1002A>C (p.Thr334=)
c.834A>C (p.Thr278=)
c.1125A>C (p.Thr375=)
c.1080+54A>C (n.1080+54A>C)
4g.154569689A>GCA442013454FGBc.1134A>G (p.Thr378=)
n.939+382A>G
c.477A>G (p.Thr159=)
c.957A>G (p.Thr319=)
c.1002A>G (p.Thr334=)
c.834A>G (p.Thr278=)
c.1125A>G (p.Thr375=)
c.1080+54A>G (n.1080+54A>G)
dbSNP
4g.154569689A>TCA442013456FGBc.1134A>T (p.Thr378=)
n.939+382A>T
c.477A>T (p.Thr159=)
c.957A>T (p.Thr319=)
c.1002A>T (p.Thr334=)
c.834A>T (p.Thr278=)
c.1125A>T (p.Thr375=)
c.1080+54A>T (n.1080+54A>T)
4g.154569690G>ACA358515237FGBc.1135G>A (p.Ala379Thr)
n.939+383G>A
c.478G>A (p.Ala160Thr)
c.958G>A (p.Ala320Thr)
c.1003G>A (p.Ala335Thr)
c.835G>A (p.Ala279Thr)
c.1126G>A (p.Ala376Thr)
c.1080+55G>A (n.1080+55G>A)
gnomAD v4
4g.154569690G>CCA358515238FGBc.1135G>C (p.Ala379Pro)
n.939+383G>C
c.478G>C (p.Ala160Pro)
c.958G>C (p.Ala320Pro)
c.1003G>C (p.Ala335Pro)
c.835G>C (p.Ala279Pro)
c.1126G>C (p.Ala376Pro)
c.1080+55G>C (n.1080+55G>C)
4g.154569690G>TCA358515239FGBc.1135G>T (p.Ala379Ser)
n.939+383G>T
c.478G>T (p.Ala160Ser)
c.958G>T (p.Ala320Ser)
c.1003G>T (p.Ala335Ser)
c.835G>T (p.Ala279Ser)
c.1126G>T (p.Ala376Ser)
c.1080+55G>T (n.1080+55G>T)
4g.154569691C>ACA358515241FGBc.1136C>A (p.Ala379Asp)
n.939+384C>A
c.479C>A (p.Ala160Asp)
c.959C>A (p.Ala320Asp)
c.1004C>A (p.Ala335Asp)
c.836C>A (p.Ala279Asp)
c.1127C>A (p.Ala376Asp)
c.1080+56C>A (n.1080+56C>A)
4g.154569691C>GCA358515242FGBc.1136C>G (p.Ala379Gly)
n.939+384C>G
c.479C>G (p.Ala160Gly)
c.959C>G (p.Ala320Gly)
c.1004C>G (p.Ala335Gly)
c.836C>G (p.Ala279Gly)
c.1127C>G (p.Ala376Gly)
c.1080+56C>G (n.1080+56C>G)
4g.154569691C>TCA358515243FGBc.1136C>T (p.Ala379Val)
n.939+384C>T
c.479C>T (p.Ala160Val)
c.959C>T (p.Ala320Val)
c.1004C>T (p.Ala335Val)
c.836C>T (p.Ala279Val)
c.1127C>T (p.Ala376Val)
c.1080+56C>T (n.1080+56C>T)
4g.154569692C>ACA442013459FGBc.1137C>A (p.Ala379=)
n.939+385C>A
c.480C>A (p.Ala160=)
c.960C>A (p.Ala320=)
c.1005C>A (p.Ala335=)
c.837C>A (p.Ala279=)
c.1128C>A (p.Ala376=)
c.1080+57C>A (n.1080+57C>A)
dbSNP gnomAD v2 gnomAD v4
4g.154569692C=CA1504935498FGBc.1137C= (p.Ala379=)
n.939+385C=
c.480C= (p.Ala160=)
c.960C= (p.Ala320=)
c.1005C= (p.Ala335=)
c.837C= (p.Ala279=)
c.1128C= (p.Ala376=)
c.1080+57C= (n.1080+57C=)
4g.154569692C>GCA442013461FGBc.1137C>G (p.Ala379=)
n.939+385C>G
c.480C>G (p.Ala160=)
c.960C>G (p.Ala320=)
c.1005C>G (p.Ala335=)
c.837C>G (p.Ala279=)
c.1128C>G (p.Ala376=)
c.1080+57C>G (n.1080+57C>G)
4g.154569692C>TCA3114727FGBc.1137C>T (p.Ala379=)
n.939+385C>T
c.480C>T (p.Ala160=)
c.960C>T (p.Ala320=)
c.1005C>T (p.Ala335=)
c.837C>T (p.Ala279=)
c.1128C>T (p.Ala376=)
c.1080+57C>T (n.1080+57C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569693G>ACA3114728FGBc.1138G>A (p.Gly380Ser)
n.939+386G>A
c.481G>A (p.Gly161Ser)
c.961G>A (p.Gly321Ser)
c.1006G>A (p.Gly336Ser)
c.838G>A (p.Gly280Ser)
c.1129G>A (p.Gly377Ser)
c.1080+58G>A (n.1080+58G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.154569693G>CCA358515247FGBc.1138G>C (p.Gly380Arg)
n.939+386G>C
c.481G>C (p.Gly161Arg)
c.961G>C (p.Gly321Arg)
c.1006G>C (p.Gly336Arg)
c.838G>C (p.Gly280Arg)
c.1129G>C (p.Gly377Arg)
c.1080+58G>C (n.1080+58G>C)
4g.154569693G=CA1504935504FGBc.1138G= (p.Gly380=)
n.939+386G=
c.481G= (p.Gly161=)
c.961G= (p.Gly321=)
c.1006G= (p.Gly336=)
c.838G= (p.Gly280=)
c.1129G= (p.Gly377=)
c.1080+58G= (n.1080+58G=)
4g.154569693G>TCA358515248FGBc.1138G>T (p.Gly380Cys)
n.939+386G>T
c.481G>T (p.Gly161Cys)
c.961G>T (p.Gly321Cys)
c.1006G>T (p.Gly336Cys)
c.838G>T (p.Gly280Cys)
c.1129G>T (p.Gly377Cys)
c.1080+58G>T (n.1080+58G>T)
4g.154569694G>ACA358515250FGBc.1139G>A (p.Gly380Asp)
n.939+387G>A
c.482G>A (p.Gly161Asp)
c.962G>A (p.Gly321Asp)
c.1007G>A (p.Gly336Asp)
c.839G>A (p.Gly280Asp)
c.1130G>A (p.Gly377Asp)
c.1080+59G>A (n.1080+59G>A)
4g.154569694G>CCA358515252FGBc.1139G>C (p.Gly380Ala)
n.939+387G>C
c.482G>C (p.Gly161Ala)
c.962G>C (p.Gly321Ala)
c.1007G>C (p.Gly336Ala)
c.839G>C (p.Gly280Ala)
c.1130G>C (p.Gly377Ala)
c.1080+59G>C (n.1080+59G>C)
4g.154569694G>TCA358515254FGBc.1139G>T (p.Gly380Val)
n.939+387G>T
c.482G>T (p.Gly161Val)
c.962G>T (p.Gly321Val)
c.1007G>T (p.Gly336Val)
c.839G>T (p.Gly280Val)
c.1130G>T (p.Gly377Val)
c.1080+59G>T (n.1080+59G>T)
4g.154569695T>ACA442013467FGBc.1140T>A (p.Gly380=)
n.939+388T>A
c.483T>A (p.Gly161=)
c.963T>A (p.Gly321=)
c.1008T>A (p.Gly336=)
c.840T>A (p.Gly280=)
c.1131T>A (p.Gly377=)
c.1080+60T>A (n.1080+60T>A)
4g.154569695T>CCA108751698FGBc.1140T>C (p.Gly380=)
n.939+388T>C
c.483T>C (p.Gly161=)
c.963T>C (p.Gly321=)
c.1008T>C (p.Gly336=)
c.840T>C (p.Gly280=)
c.1131T>C (p.Gly377=)
c.1080+60T>C (n.1080+60T>C)
dbSNP
4g.154569695T>GCA442013468FGBc.1140T>G (p.Gly380=)
n.939+388T>G
c.483T>G (p.Gly161=)
c.963T>G (p.Gly321=)
c.1008T>G (p.Gly336=)
c.840T>G (p.Gly280=)
c.1131T>G (p.Gly377=)
c.1080+60T>G (n.1080+60T>G)
4g.154569695T=CA1504935506FGBc.1140T= (p.Gly380=)
n.939+388T=
c.483T= (p.Gly161=)
c.963T= (p.Gly321=)
c.1008T= (p.Gly336=)
c.840T= (p.Gly280=)
c.1131T= (p.Gly377=)
c.1080+60T= (n.1080+60T=)
4g.154569696A>CCA358515258FGBc.1141A>C (p.Asn381His)
n.939+389A>C
c.484A>C (p.Asn162His)
c.964A>C (p.Asn322His)
c.1009A>C (p.Asn337His)
c.841A>C (p.Asn281His)
c.1132A>C (p.Asn378His)
c.1080+61A>C (n.1080+61A>C)
4g.154569696A>GCA358515257FGBc.1141A>G (p.Asn381Asp)
n.939+389A>G
c.484A>G (p.Asn162Asp)
c.964A>G (p.Asn322Asp)
c.1009A>G (p.Asn337Asp)
c.841A>G (p.Asn281Asp)
c.1132A>G (p.Asn378Asp)
c.1080+61A>G (n.1080+61A>G)
4g.154569696A>TCA358515260FGBc.1141A>T (p.Asn381Tyr)
n.939+389A>T
c.484A>T (p.Asn162Tyr)
c.964A>T (p.Asn322Tyr)
c.1009A>T (p.Asn337Tyr)
c.841A>T (p.Asn281Tyr)
c.1132A>T (p.Asn378Tyr)
c.1080+61A>T (n.1080+61A>T)
4g.154569697A=CA1504935509FGBc.1142A= (p.Asn381=)
n.939+390A=
c.485A= (p.Asn162=)
c.965A= (p.Asn322=)
c.1010A= (p.Asn337=)
c.842A= (p.Asn281=)
c.1133A= (p.Asn378=)
c.1080+62A= (n.1080+62A=)
4g.154569697A>CCA358515261FGBc.1142A>C (p.Asn381Thr)
n.939+390A>C
c.485A>C (p.Asn162Thr)
c.965A>C (p.Asn322Thr)
c.1010A>C (p.Asn337Thr)
c.842A>C (p.Asn281Thr)
c.1133A>C (p.Asn378Thr)
c.1080+62A>C (n.1080+62A>C)
4g.154569697A>GCA358515265FGBc.1142A>G (p.Asn381Ser)
n.939+390A>G
c.485A>G (p.Asn162Ser)
c.965A>G (p.Asn322Ser)
c.1010A>G (p.Asn337Ser)
c.842A>G (p.Asn281Ser)
c.1133A>G (p.Asn378Ser)
c.1080+62A>G (n.1080+62A>G)
dbSNP gnomAD v4
4g.154569697A>TCA358515263FGBc.1142A>T (p.Asn381Ile)
n.939+390A>T
c.485A>T (p.Asn162Ile)
c.965A>T (p.Asn322Ile)
c.1010A>T (p.Asn337Ile)
c.842A>T (p.Asn281Ile)
c.1133A>T (p.Asn378Ile)
c.1080+62A>T (n.1080+62A>T)
gnomAD v4
4g.154569697_154569698insGCTGGCTAATTCA2553182044FGBc.1142_1143insGCTGGCTAATT (p.Asn381LysfsTer14)
n.939+390_939+391insGCTGGCTAATT
c.485_486insGCTGGCTAATT (p.Asn162LysfsTer14)
c.965_966insGCTGGCTAATT (p.Asn322LysfsTer14)
c.1010_1011insGCTGGCTAATT (p.Asn337LysfsTer14)
c.842_843insGCTGGCTAATT (p.Asn281LysfsTer14)
c.1133_1134insGCTGGCTAATT (p.Asn378LysfsTer14)
c.1080+62_1080+63insGCTGGCTAATT (n.1080+62_1080+63insGCTGGCTAATT)
4g.154569698T>ACA358515267FGBc.1143T>A (p.Asn381Lys)
n.939+391T>A
c.486T>A (p.Asn162Lys)
c.966T>A (p.Asn322Lys)
c.1011T>A (p.Asn337Lys)
c.843T>A (p.Asn281Lys)
c.1134T>A (p.Asn378Lys)
c.1080+63T>A (n.1080+63T>A)
gnomAD v4
4g.154569698T>CCA3114729FGBc.1143T>C (p.Asn381=)
n.939+391T>C
c.486T>C (p.Asn162=)
c.966T>C (p.Asn322=)
c.1011T>C (p.Asn337=)
c.843T>C (p.Asn281=)
c.1134T>C (p.Asn378=)
c.1080+63T>C (n.1080+63T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569698T>GCA358515270FGBc.1143T>G (p.Asn381Lys)
n.939+391T>G
c.486T>G (p.Asn162Lys)
c.966T>G (p.Asn322Lys)
c.1011T>G (p.Asn337Lys)
c.843T>G (p.Asn281Lys)
c.1134T>G (p.Asn378Lys)
c.1080+63T>G (n.1080+63T>G)
4g.154569698T=CA1504935511FGBc.1143T= (p.Asn381=)
n.939+391T=
c.486T= (p.Asn162=)
c.966T= (p.Asn322=)
c.1011T= (p.Asn337=)
c.843T= (p.Asn281=)
c.1134T= (p.Asn378=)
c.1080+63T= (n.1080+63T=)
4g.154569699G>ACA358515273FGBc.1144G>A (p.Ala382Thr)
n.939+392G>A
c.487G>A (p.Ala163Thr)
c.967G>A (p.Ala323Thr)
c.1012G>A (p.Ala338Thr)
c.844G>A (p.Ala282Thr)
c.1135G>A (p.Ala379Thr)
c.1080+64G>A (n.1080+64G>A)
4g.154569699G>CCA358515274FGBc.1144G>C (p.Ala382Pro)
n.939+392G>C
c.487G>C (p.Ala163Pro)
c.967G>C (p.Ala323Pro)
c.1012G>C (p.Ala338Pro)
c.844G>C (p.Ala282Pro)
c.1135G>C (p.Ala379Pro)
c.1080+64G>C (n.1080+64G>C)
4g.154569699G>TCA358515276FGBc.1144G>T (p.Ala382Ser)
n.939+392G>T
c.487G>T (p.Ala163Ser)
c.967G>T (p.Ala323Ser)
c.1012G>T (p.Ala338Ser)
c.844G>T (p.Ala282Ser)
c.1135G>T (p.Ala379Ser)
c.1080+64G>T (n.1080+64G>T)
4g.154569700C>ACA358515277FGBc.1145C>A (p.Ala382Asp)
n.939+393C>A
c.488C>A (p.Ala163Asp)
c.968C>A (p.Ala323Asp)
c.1013C>A (p.Ala338Asp)
c.845C>A (p.Ala282Asp)
c.1136C>A (p.Ala379Asp)
c.1080+65C>A (n.1080+65C>A)
4g.154569700C>GCA358515278FGBc.1145C>G (p.Ala382Gly)
n.939+393C>G
c.488C>G (p.Ala163Gly)
c.968C>G (p.Ala323Gly)
c.1013C>G (p.Ala338Gly)
c.845C>G (p.Ala282Gly)
c.1136C>G (p.Ala379Gly)
c.1080+65C>G (n.1080+65C>G)
4g.154569700C>TCA358515280FGBc.1145C>T (p.Ala382Val)
n.939+393C>T
c.488C>T (p.Ala163Val)
c.968C>T (p.Ala323Val)
c.1013C>T (p.Ala338Val)
c.845C>T (p.Ala282Val)
c.1136C>T (p.Ala379Val)
c.1080+65C>T (n.1080+65C>T)
COSMIC
4g.154569701C>ACA442013480FGBc.1146C>A (p.Ala382=)
n.939+394C>A
c.489C>A (p.Ala163=)
c.969C>A (p.Ala323=)
c.1014C>A (p.Ala338=)
c.846C>A (p.Ala282=)
c.1137C>A (p.Ala379=)
c.1080+66C>A (n.1080+66C>A)
4g.154569701C=CA1504935513FGBc.1146C= (p.Ala382=)
n.939+394C=
c.489C= (p.Ala163=)
c.969C= (p.Ala323=)
c.1014C= (p.Ala338=)
c.846C= (p.Ala282=)
c.1137C= (p.Ala379=)
c.1080+66C= (n.1080+66C=)
4g.154569701C>GCA442013482FGBc.1146C>G (p.Ala382=)
n.939+394C>G
c.489C>G (p.Ala163=)
c.969C>G (p.Ala323=)
c.1014C>G (p.Ala338=)
c.846C>G (p.Ala282=)
c.1137C>G (p.Ala379=)
c.1080+66C>G (n.1080+66C>G)
4g.154569701C>TCA442013483FGBc.1146C>T (p.Ala382=)
n.939+394C>T
c.489C>T (p.Ala163=)
c.969C>T (p.Ala323=)
c.1014C>T (p.Ala338=)
c.846C>T (p.Ala282=)
c.1137C>T (p.Ala379=)
c.1080+66C>T (n.1080+66C>T)
dbSNP
4g.154569702C>ACA358515282FGBc.1147C>A (p.Leu383Ile)
n.939+395C>A
c.490C>A (p.Leu164Ile)
c.970C>A (p.Leu324Ile)
c.1015C>A (p.Leu339Ile)
c.847C>A (p.Leu283Ile)
c.1138C>A (p.Leu380Ile)
c.1080+67C>A (n.1080+67C>A)
4g.154569702C=CA1504935514FGBc.1147C= (p.Leu383=)
n.939+395C=
c.490C= (p.Leu164=)
c.970C= (p.Leu324=)
c.1015C= (p.Leu339=)
c.847C= (p.Leu283=)
c.1138C= (p.Leu380=)
c.1080+67C= (n.1080+67C=)
4g.154569702C>GCA3114730FGBc.1147C>G (p.Leu383Val)
n.939+395C>G
c.490C>G (p.Leu164Val)
c.970C>G (p.Leu324Val)
c.1015C>G (p.Leu339Val)
c.847C>G (p.Leu283Val)
c.1138C>G (p.Leu380Val)
c.1080+67C>G (n.1080+67C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569702C>TCA358515284FGBc.1147C>T (p.Leu383Phe)
n.939+395C>T
c.490C>T (p.Leu164Phe)
c.970C>T (p.Leu324Phe)
c.1015C>T (p.Leu339Phe)
c.847C>T (p.Leu283Phe)
c.1138C>T (p.Leu380Phe)
c.1080+67C>T (n.1080+67C>T)
4g.154569704_154569724dupCA2672441503FGBc.1149_1169dup (p.Leu390_Met391insMetAspGlyAlaSerGlnLeu)
n.939+397_939+417dup
c.492_512dup (p.Leu171_Met172insMetAspGlyAlaSerGlnLeu)
c.972_992dup (p.Leu331_Met332insMetAspGlyAlaSerGlnLeu)
c.1017_1037dup (p.Leu346_Met347insMetAspGlyAlaSerGlnLeu)
c.849_869dup (p.Leu290_Met291insMetAspGlyAlaSerGlnLeu)
c.1140_1160dup (p.Leu387_Met388insMetAspGlyAlaSerGlnLeu)
c.1081-69_1081-49dup (n.1081-69_1081-49dup)
gnomAD v4
4g.154569703T>ACA358515287FGBc.1148T>A (p.Leu383His)
n.939+396T>A
c.491T>A (p.Leu164His)
c.971T>A (p.Leu324His)
c.1016T>A (p.Leu339His)
c.848T>A (p.Leu283His)
c.1139T>A (p.Leu380His)
c.1080+68T>A (n.1080+68T>A)
4g.154569703T>CCA358515286FGBc.1148T>C (p.Leu383Pro)
n.939+396T>C
c.491T>C (p.Leu164Pro)
c.971T>C (p.Leu324Pro)
c.1016T>C (p.Leu339Pro)
c.848T>C (p.Leu283Pro)
c.1139T>C (p.Leu380Pro)
c.1080+68T>C (n.1080+68T>C)
4g.154569703T>GCA126442FGBc.1148T>G (p.Leu383Arg)
n.939+396T>G
c.491T>G (p.Leu164Arg)
c.971T>G (p.Leu324Arg)
c.1016T>G (p.Leu339Arg)
c.848T>G (p.Leu283Arg)
c.1139T>G (p.Leu380Arg)
c.1080+68T>G (n.1080+68T>G)
ClinVar dbSNP
4g.154569703T=CA1504935521FGBc.1148T= (p.Leu383=)
n.939+396T=
c.491T= (p.Leu164=)
c.971T= (p.Leu324=)
c.1016T= (p.Leu339=)
c.848T= (p.Leu283=)
c.1139T= (p.Leu380=)
c.1080+68T= (n.1080+68T=)
4g.154569704C>ACA442013488FGBc.1149C>A (p.Leu383=)
n.939+397C>A
c.492C>A (p.Leu164=)
c.972C>A (p.Leu324=)
c.1017C>A (p.Leu339=)
c.849C>A (p.Leu283=)
c.1140C>A (p.Leu380=)
c.1081-69C>A (n.1081-69C>A)
4g.154569704C=CA1504935526FGBc.1149C= (p.Leu383=)
n.939+397C=
c.492C= (p.Leu164=)
c.972C= (p.Leu324=)
c.1017C= (p.Leu339=)
c.849C= (p.Leu283=)
c.1140C= (p.Leu380=)
c.1081-69C= (n.1081-69C=)
4g.154569704C>GCA442013489FGBc.1149C>G (p.Leu383=)
n.939+397C>G
c.492C>G (p.Leu164=)
c.972C>G (p.Leu324=)
c.1017C>G (p.Leu339=)
c.849C>G (p.Leu283=)
c.1140C>G (p.Leu380=)
c.1081-69C>G (n.1081-69C>G)
4g.154569704C>TCA108751707FGBc.1149C>T (p.Leu383=)
n.939+397C>T
c.492C>T (p.Leu164=)
c.972C>T (p.Leu324=)
c.1017C>T (p.Leu339=)
c.849C>T (p.Leu283=)
c.1140C>T (p.Leu380=)
c.1081-69C>T (n.1081-69C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569705A=CA1504935530FGBc.1150A= (p.Met384=)
n.939+398A=
c.493A= (p.Met165=)
c.973A= (p.Met325=)
c.1018A= (p.Met340=)
c.850A= (p.Met284=)
c.1141A= (p.Met381=)
c.1081-68A= (n.1081-68A=)
4g.154569705A>CCA358515291FGBc.1150A>C (p.Met384Leu)
n.939+398A>C
c.493A>C (p.Met165Leu)
c.973A>C (p.Met325Leu)
c.1018A>C (p.Met340Leu)
c.850A>C (p.Met284Leu)
c.1141A>C (p.Met381Leu)
c.1081-68A>C (n.1081-68A>C)
4g.154569705A>GCA358515292FGBc.1150A>G (p.Met384Val)
n.939+398A>G
c.493A>G (p.Met165Val)
c.973A>G (p.Met325Val)
c.1018A>G (p.Met340Val)
c.850A>G (p.Met284Val)
c.1141A>G (p.Met381Val)
c.1081-68A>G (n.1081-68A>G)
dbSNP gnomAD v2 gnomAD v4 COSMIC
4g.154569705A>TCA358515294FGBc.1150A>T (p.Met384Leu)
n.939+398A>T
c.493A>T (p.Met165Leu)
c.973A>T (p.Met325Leu)
c.1018A>T (p.Met340Leu)
c.850A>T (p.Met284Leu)
c.1141A>T (p.Met381Leu)
c.1081-68A>T (n.1081-68A>T)
4g.154569706T>ACA358515296FGBc.1151T>A (p.Met384Lys)
n.939+399T>A
c.494T>A (p.Met165Lys)
c.974T>A (p.Met325Lys)
c.1019T>A (p.Met340Lys)
c.851T>A (p.Met284Lys)
c.1142T>A (p.Met381Lys)
c.1081-67T>A (n.1081-67T>A)
4g.154569706T>CCA358515298FGBc.1151T>C (p.Met384Thr)
n.939+399T>C
c.494T>C (p.Met165Thr)
c.974T>C (p.Met325Thr)
c.1019T>C (p.Met340Thr)
c.851T>C (p.Met284Thr)
c.1142T>C (p.Met381Thr)
c.1081-67T>C (n.1081-67T>C)
gnomAD v4
4g.154569706T>GCA358515299FGBc.1151T>G (p.Met384Arg)
n.939+399T>G
c.494T>G (p.Met165Arg)
c.974T>G (p.Met325Arg)
c.1019T>G (p.Met340Arg)
c.851T>G (p.Met284Arg)
c.1142T>G (p.Met381Arg)
c.1081-67T>G (n.1081-67T>G)
4g.154569707G>ACA358515300FGBc.1152G>A (p.Met384Ile)
n.939+400G>A
c.495G>A (p.Met165Ile)
c.975G>A (p.Met325Ile)
c.1020G>A (p.Met340Ile)
c.852G>A (p.Met284Ile)
c.1143G>A (p.Met381Ile)
c.1081-66G>A (n.1081-66G>A)
4g.154569707G>CCA358515301FGBc.1152G>C (p.Met384Ile)
n.939+400G>C
c.495G>C (p.Met165Ile)
c.975G>C (p.Met325Ile)
c.1020G>C (p.Met340Ile)
c.852G>C (p.Met284Ile)
c.1143G>C (p.Met381Ile)
c.1081-66G>C (n.1081-66G>C)
4g.154569707G=CA1504935534FGBc.1152G= (p.Met384=)
n.939+400G=
c.495G= (p.Met165=)
c.975G= (p.Met325=)
c.1020G= (p.Met340=)
c.852G= (p.Met284=)
c.1143G= (p.Met381=)
c.1081-66G= (n.1081-66G=)
4g.154569707G>TCA3114731FGBc.1152G>T (p.Met384Ile)
n.939+400G>T
c.495G>T (p.Met165Ile)
c.975G>T (p.Met325Ile)
c.1020G>T (p.Met340Ile)
c.852G>T (p.Met284Ile)
c.1143G>T (p.Met381Ile)
c.1081-66G>T (n.1081-66G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569708G>ACA358515304FGBc.1153G>A (p.Asp385Asn)
n.939+401G>A
c.496G>A (p.Asp166Asn)
c.976G>A (p.Asp326Asn)
c.1021G>A (p.Asp341Asn)
c.853G>A (p.Asp285Asn)
c.1144G>A (p.Asp382Asn)
c.1081-65G>A (n.1081-65G>A)
4g.154569708G>CCA358515305FGBc.1153G>C (p.Asp385His)
n.939+401G>C
c.496G>C (p.Asp166His)
c.976G>C (p.Asp326His)
c.1021G>C (p.Asp341His)
c.853G>C (p.Asp285His)
c.1144G>C (p.Asp382His)
c.1081-65G>C (n.1081-65G>C)
4g.154569708G>TCA358515306FGBc.1153G>T (p.Asp385Tyr)
n.939+401G>T
c.496G>T (p.Asp166Tyr)
c.976G>T (p.Asp326Tyr)
c.1021G>T (p.Asp341Tyr)
c.853G>T (p.Asp285Tyr)
c.1144G>T (p.Asp382Tyr)
c.1081-65G>T (n.1081-65G>T)
4g.154569709A>CCA358515310FGBc.1154A>C (p.Asp385Ala)
n.939+402A>C
c.497A>C (p.Asp166Ala)
c.977A>C (p.Asp326Ala)
c.1022A>C (p.Asp341Ala)
c.854A>C (p.Asp285Ala)
c.1145A>C (p.Asp382Ala)
c.1081-64A>C (n.1081-64A>C)
4g.154569709A>GCA358515311FGBc.1154A>G (p.Asp385Gly)
n.939+402A>G
c.497A>G (p.Asp166Gly)
c.977A>G (p.Asp326Gly)
c.1022A>G (p.Asp341Gly)
c.854A>G (p.Asp285Gly)
c.1145A>G (p.Asp382Gly)
c.1081-64A>G (n.1081-64A>G)
4g.154569709A>TCA358515308FGBc.1154A>T (p.Asp385Val)
n.939+402A>T
c.497A>T (p.Asp166Val)
c.977A>T (p.Asp326Val)
c.1022A>T (p.Asp341Val)
c.854A>T (p.Asp285Val)
c.1145A>T (p.Asp382Val)
c.1081-64A>T (n.1081-64A>T)
4g.154569710T>ACA358515313FGBc.1155T>A (p.Asp385Glu)
n.939+403T>A
c.498T>A (p.Asp166Glu)
c.978T>A (p.Asp326Glu)
c.1023T>A (p.Asp341Glu)
c.855T>A (p.Asp285Glu)
c.1146T>A (p.Asp382Glu)
c.1081-63T>A (n.1081-63T>A)
4g.154569710T>CCA442013502FGBc.1155T>C (p.Asp385=)
n.939+403T>C
c.498T>C (p.Asp166=)
c.978T>C (p.Asp326=)
c.1023T>C (p.Asp341=)
c.855T>C (p.Asp285=)
c.1146T>C (p.Asp382=)
c.1081-63T>C (n.1081-63T>C)
dbSNP gnomAD v2 gnomAD v4
4g.154569710T>GCA358515315FGBc.1155T>G (p.Asp385Glu)
n.939+403T>G
c.498T>G (p.Asp166Glu)
c.978T>G (p.Asp326Glu)
c.1023T>G (p.Asp341Glu)
c.855T>G (p.Asp285Glu)
c.1146T>G (p.Asp382Glu)
c.1081-63T>G (n.1081-63T>G)
4g.154569710T=CA1504935537FGBc.1155T= (p.Asp385=)
n.939+403T=
c.498T= (p.Asp166=)
c.978T= (p.Asp326=)
c.1023T= (p.Asp341=)
c.855T= (p.Asp285=)
c.1146T= (p.Asp382=)
c.1081-63T= (n.1081-63T=)
4g.154569711G>ACA358515316FGBc.1156G>A (p.Gly386Arg)
n.939+404G>A
c.499G>A (p.Gly167Arg)
c.979G>A (p.Gly327Arg)
c.1024G>A (p.Gly342Arg)
c.856G>A (p.Gly286Arg)
c.1147G>A (p.Gly383Arg)
c.1081-62G>A (n.1081-62G>A)
4g.154569711G>CCA358515319FGBc.1156G>C (p.Gly386Arg)
n.939+404G>C
c.499G>C (p.Gly167Arg)
c.979G>C (p.Gly327Arg)
c.1024G>C (p.Gly342Arg)
c.856G>C (p.Gly286Arg)
c.1147G>C (p.Gly383Arg)
c.1081-62G>C (n.1081-62G>C)
4g.154569711G>TCA358515320FGBc.1156G>T (p.Gly386Ter)
n.939+404G>T
c.499G>T (p.Gly167Ter)
c.979G>T (p.Gly327Ter)
c.1024G>T (p.Gly342Ter)
c.856G>T (p.Gly286Ter)
c.1147G>T (p.Gly383Ter)
c.1081-62G>T (n.1081-62G>T)
4g.154569712G>ACA358515322FGBc.1157G>A (p.Gly386Glu)
n.939+405G>A
c.500G>A (p.Gly167Glu)
c.980G>A (p.Gly327Glu)
c.1025G>A (p.Gly342Glu)
c.857G>A (p.Gly286Glu)
c.1148G>A (p.Gly383Glu)
c.1081-61G>A (n.1081-61G>A)
4g.154569712G>CCA358515323FGBc.1157G>C (p.Gly386Ala)
n.939+405G>C
c.500G>C (p.Gly167Ala)
c.980G>C (p.Gly327Ala)
c.1025G>C (p.Gly342Ala)
c.857G>C (p.Gly286Ala)
c.1148G>C (p.Gly383Ala)
c.1081-61G>C (n.1081-61G>C)
4g.154569712G>TCA358515325FGBc.1157G>T (p.Gly386Val)
n.939+405G>T
c.500G>T (p.Gly167Val)
c.980G>T (p.Gly327Val)
c.1025G>T (p.Gly342Val)
c.857G>T (p.Gly286Val)
c.1148G>T (p.Gly383Val)
c.1081-61G>T (n.1081-61G>T)
4g.154569713A=CA1504935541FGBc.1158A= (p.Gly386=)
n.939+406A=
c.501A= (p.Gly167=)
c.981A= (p.Gly327=)
c.1026A= (p.Gly342=)
c.858A= (p.Gly286=)
c.1149A= (p.Gly383=)
c.1081-60A= (n.1081-60A=)
4g.154569713A>CCA442013512FGBc.1158A>C (p.Gly386=)
n.939+406A>C
c.501A>C (p.Gly167=)
c.981A>C (p.Gly327=)
c.1026A>C (p.Gly342=)
c.858A>C (p.Gly286=)
c.1149A>C (p.Gly383=)
c.1081-60A>C (n.1081-60A>C)
4g.154569713A>GCA442013510FGBc.1158A>G (p.Gly386=)
n.939+406A>G
c.501A>G (p.Gly167=)
c.981A>G (p.Gly327=)
c.1026A>G (p.Gly342=)
c.858A>G (p.Gly286=)
c.1149A>G (p.Gly383=)
c.1081-60A>G (n.1081-60A>G)
dbSNP
4g.154569713A>TCA442013509FGBc.1158A>T (p.Gly386=)
n.939+406A>T
c.501A>T (p.Gly167=)
c.981A>T (p.Gly327=)
c.1026A>T (p.Gly342=)
c.858A>T (p.Gly286=)
c.1149A>T (p.Gly383=)
c.1081-60A>T (n.1081-60A>T)
4g.154569714G>ACA358515327FGBc.1159G>A (p.Ala387Thr)
n.939+407G>A
c.502G>A (p.Ala168Thr)
c.982G>A (p.Ala328Thr)
c.1027G>A (p.Ala343Thr)
c.859G>A (p.Ala287Thr)
c.1150G>A (p.Ala384Thr)
c.1081-59G>A (n.1081-59G>A)
dbSNP gnomAD v2 gnomAD v4
4g.154569714G>CCA358515329FGBc.1159G>C (p.Ala387Pro)
n.939+407G>C
c.502G>C (p.Ala168Pro)
c.982G>C (p.Ala328Pro)
c.1027G>C (p.Ala343Pro)
c.859G>C (p.Ala287Pro)
c.1150G>C (p.Ala384Pro)
c.1081-59G>C (n.1081-59G>C)
4g.154569714G=CA1504935545FGBc.1159G= (p.Ala387=)
n.939+407G=
c.502G= (p.Ala168=)
c.982G= (p.Ala328=)
c.1027G= (p.Ala343=)
c.859G= (p.Ala287=)
c.1150G= (p.Ala384=)
c.1081-59G= (n.1081-59G=)
4g.154569714G>TCA358515330FGBc.1159G>T (p.Ala387Ser)
n.939+407G>T
c.502G>T (p.Ala168Ser)
c.982G>T (p.Ala328Ser)
c.1027G>T (p.Ala343Ser)
c.859G>T (p.Ala287Ser)
c.1150G>T (p.Ala384Ser)
c.1081-59G>T (n.1081-59G>T)
dbSNP
4g.154569715C>ACA358515336FGBc.1160C>A (p.Ala387Glu)
n.939+408C>A
c.503C>A (p.Ala168Glu)
c.983C>A (p.Ala328Glu)
c.1028C>A (p.Ala343Glu)
c.860C>A (p.Ala287Glu)
c.1151C>A (p.Ala384Glu)
c.1081-58C>A (n.1081-58C>A)
4g.154569715C>GCA358515334FGBc.1160C>G (p.Ala387Gly)
n.939+408C>G
c.503C>G (p.Ala168Gly)
c.983C>G (p.Ala328Gly)
c.1028C>G (p.Ala343Gly)
c.860C>G (p.Ala287Gly)
c.1151C>G (p.Ala384Gly)
c.1081-58C>G (n.1081-58C>G)
4g.154569715C>TCA358515332FGBc.1160C>T (p.Ala387Val)
n.939+408C>T
c.503C>T (p.Ala168Val)
c.983C>T (p.Ala328Val)
c.1028C>T (p.Ala343Val)
c.860C>T (p.Ala287Val)
c.1151C>T (p.Ala384Val)
c.1081-58C>T (n.1081-58C>T)
COSMIC
4g.154569716A=CA1504935547FGBc.1161A= (p.Ala387=)
n.939+409A=
c.504A= (p.Ala168=)
c.984A= (p.Ala328=)
c.1029A= (p.Ala343=)
c.861A= (p.Ala287=)
c.1152A= (p.Ala384=)
c.1081-57A= (n.1081-57A=)
4g.154569716A>CCA442013514FGBc.1161A>C (p.Ala387=)
n.939+409A>C
c.504A>C (p.Ala168=)
c.984A>C (p.Ala328=)
c.1029A>C (p.Ala343=)
c.861A>C (p.Ala287=)
c.1152A>C (p.Ala384=)
c.1081-57A>C (n.1081-57A>C)
dbSNP
4g.154569716A>GCA442013517FGBc.1161A>G (p.Ala387=)
n.939+409A>G
c.504A>G (p.Ala168=)
c.984A>G (p.Ala328=)
c.1029A>G (p.Ala343=)
c.861A>G (p.Ala287=)
c.1152A>G (p.Ala384=)
c.1081-57A>G (n.1081-57A>G)
dbSNP gnomAD v2 gnomAD v4
4g.154569716A>TCA442013520FGBc.1161A>T (p.Ala387=)
n.939+409A>T
c.504A>T (p.Ala168=)
c.984A>T (p.Ala328=)
c.1029A>T (p.Ala343=)
c.861A>T (p.Ala287=)
c.1152A>T (p.Ala384=)
c.1081-57A>T (n.1081-57A>T)
gnomAD v4
4g.154569717T>ACA3114732FGBc.1162T>A (p.Ser388Thr)
n.939+410T>A
c.505T>A (p.Ser169Thr)
c.985T>A (p.Ser329Thr)
c.1030T>A (p.Ser344Thr)
c.862T>A (p.Ser288Thr)
c.1153T>A (p.Ser385Thr)
c.1081-56T>A (n.1081-56T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569717T>CCA358515338FGBc.1162T>C (p.Ser388Pro)
n.939+410T>C
c.505T>C (p.Ser169Pro)
c.985T>C (p.Ser329Pro)
c.1030T>C (p.Ser344Pro)
c.862T>C (p.Ser288Pro)
c.1153T>C (p.Ser385Pro)
c.1081-56T>C (n.1081-56T>C)
dbSNP
4g.154569717T>GCA358515340FGBc.1162T>G (p.Ser388Ala)
n.939+410T>G
c.505T>G (p.Ser169Ala)
c.985T>G (p.Ser329Ala)
c.1030T>G (p.Ser344Ala)
c.862T>G (p.Ser288Ala)
c.1153T>G (p.Ser385Ala)
c.1081-56T>G (n.1081-56T>G)
4g.154569717T=CA1504935550FGBc.1162T= (p.Ser388=)
n.939+410T=
c.505T= (p.Ser169=)
c.985T= (p.Ser329=)
c.1030T= (p.Ser344=)
c.862T= (p.Ser288=)
c.1153T= (p.Ser385=)
c.1081-56T= (n.1081-56T=)
4g.154569718C>ACA358515341FGBc.1163C>A (p.Ser388Tyr)
n.939+411C>A
c.506C>A (p.Ser169Tyr)
c.986C>A (p.Ser329Tyr)
c.1031C>A (p.Ser344Tyr)
c.863C>A (p.Ser288Tyr)
c.1154C>A (p.Ser385Tyr)
c.1081-55C>A (n.1081-55C>A)
4g.154569718C>GCA358515342FGBc.1163C>G (p.Ser388Cys)
n.939+411C>G
c.506C>G (p.Ser169Cys)
c.986C>G (p.Ser329Cys)
c.1031C>G (p.Ser344Cys)
c.863C>G (p.Ser288Cys)
c.1154C>G (p.Ser385Cys)
c.1081-55C>G (n.1081-55C>G)
4g.154569718C>TCA358515344FGBc.1163C>T (p.Ser388Phe)
n.939+411C>T
c.506C>T (p.Ser169Phe)
c.986C>T (p.Ser329Phe)
c.1031C>T (p.Ser344Phe)
c.863C>T (p.Ser288Phe)
c.1154C>T (p.Ser385Phe)
c.1081-55C>T (n.1081-55C>T)
4g.154569719T>ACA442013530FGBc.1164T>A (p.Ser388=)
n.939+412T>A
c.507T>A (p.Ser169=)
c.987T>A (p.Ser329=)
c.1032T>A (p.Ser344=)
c.864T>A (p.Ser288=)
c.1155T>A (p.Ser385=)
c.1081-54T>A (n.1081-54T>A)
gnomAD v4
4g.154569719T>CCA442013532FGBc.1164T>C (p.Ser388=)
n.939+412T>C
c.507T>C (p.Ser169=)
c.987T>C (p.Ser329=)
c.1032T>C (p.Ser344=)
c.864T>C (p.Ser288=)
c.1155T>C (p.Ser385=)
c.1081-54T>C (n.1081-54T>C)
4g.154569719T>GCA442013533FGBc.1164T>G (p.Ser388=)
n.939+412T>G
c.507T>G (p.Ser169=)
c.987T>G (p.Ser329=)
c.1032T>G (p.Ser344=)
c.864T>G (p.Ser288=)
c.1155T>G (p.Ser385=)
c.1081-54T>G (n.1081-54T>G)
4g.154569720C>ACA358515346FGBc.1165C>A (p.Gln389Lys)
n.939+413C>A
c.508C>A (p.Gln170Lys)
c.988C>A (p.Gln330Lys)
c.1033C>A (p.Gln345Lys)
c.865C>A (p.Gln289Lys)
c.1156C>A (p.Gln386Lys)
c.1081-53C>A (n.1081-53C>A)
4g.154569720C>GCA358515347FGBc.1165C>G (p.Gln389Glu)
n.939+413C>G
c.508C>G (p.Gln170Glu)
c.988C>G (p.Gln330Glu)
c.1033C>G (p.Gln345Glu)
c.865C>G (p.Gln289Glu)
c.1156C>G (p.Gln386Glu)
c.1081-53C>G (n.1081-53C>G)
4g.154569720C>TCA358515348FGBc.1165C>T (p.Gln389Ter)
n.939+413C>T
c.508C>T (p.Gln170Ter)
c.988C>T (p.Gln330Ter)
c.1033C>T (p.Gln345Ter)
c.865C>T (p.Gln289Ter)
c.1156C>T (p.Gln386Ter)
c.1081-53C>T (n.1081-53C>T)
4g.154569721A>CCA358515351FGBc.1166A>C (p.Gln389Pro)
n.939+414A>C
c.509A>C (p.Gln170Pro)
c.989A>C (p.Gln330Pro)
c.1034A>C (p.Gln345Pro)
c.866A>C (p.Gln289Pro)
c.1157A>C (p.Gln386Pro)
c.1081-52A>C (n.1081-52A>C)
4g.154569721A>GCA358515353FGBc.1166A>G (p.Gln389Arg)
n.939+414A>G
c.509A>G (p.Gln170Arg)
c.989A>G (p.Gln330Arg)
c.1034A>G (p.Gln345Arg)
c.866A>G (p.Gln289Arg)
c.1157A>G (p.Gln386Arg)
c.1081-52A>G (n.1081-52A>G)
4g.154569721A>TCA358515354FGBc.1166A>T (p.Gln389Leu)
n.939+414A>T
c.509A>T (p.Gln170Leu)
c.989A>T (p.Gln330Leu)
c.1034A>T (p.Gln345Leu)
c.866A>T (p.Gln289Leu)
c.1157A>T (p.Gln386Leu)
c.1081-52A>T (n.1081-52A>T)
4g.154569722G>ACA442013537FGBc.1167G>A (p.Gln389=)
n.939+415G>A
c.510G>A (p.Gln170=)
c.990G>A (p.Gln330=)
c.1035G>A (p.Gln345=)
c.867G>A (p.Gln289=)
c.1158G>A (p.Gln386=)
c.1081-51G>A (n.1081-51G>A)
dbSNP gnomAD v4
4g.154569722G>CCA358515358FGBc.1167G>C (p.Gln389His)
n.939+415G>C
c.510G>C (p.Gln170His)
c.990G>C (p.Gln330His)
c.1035G>C (p.Gln345His)
c.867G>C (p.Gln289His)
c.1158G>C (p.Gln386His)
c.1081-51G>C (n.1081-51G>C)
4g.154569722G=CA1504935553FGBc.1167G= (p.Gln389=)
n.939+415G=
c.510G= (p.Gln170=)
c.990G= (p.Gln330=)
c.1035G= (p.Gln345=)
c.867G= (p.Gln289=)
c.1158G= (p.Gln386=)
c.1081-51G= (n.1081-51G=)
4g.154569722G>TCA358515356FGBc.1167G>T (p.Gln389His)
n.939+415G>T
c.510G>T (p.Gln170His)
c.990G>T (p.Gln330His)
c.1035G>T (p.Gln345His)
c.867G>T (p.Gln289His)
c.1158G>T (p.Gln386His)
c.1081-51G>T (n.1081-51G>T)
4g.154569723C>ACA358515359FGBc.1168C>A (p.Leu390Met)
n.939+416C>A
c.511C>A (p.Leu171Met)
c.991C>A (p.Leu331Met)
c.1036C>A (p.Leu346Met)
c.868C>A (p.Leu290Met)
c.1159C>A (p.Leu387Met)
c.1081-50C>A (n.1081-50C>A)
4g.154569723C>GCA358515361FGBc.1168C>G (p.Leu390Val)
n.939+416C>G
c.511C>G (p.Leu171Val)
c.991C>G (p.Leu331Val)
c.1036C>G (p.Leu346Val)
c.868C>G (p.Leu290Val)
c.1159C>G (p.Leu387Val)
c.1081-50C>G (n.1081-50C>G)
4g.154569723C>TCA442013538FGBc.1168C>T (p.Leu390=)
n.939+416C>T
c.511C>T (p.Leu171=)
c.991C>T (p.Leu331=)
c.1036C>T (p.Leu346=)
c.868C>T (p.Leu290=)
c.1159C>T (p.Leu387=)
c.1081-50C>T (n.1081-50C>T)
4g.154569724T>ACA358515363FGBc.1169T>A (p.Leu390Gln)
n.939+417T>A
c.512T>A (p.Leu171Gln)
c.992T>A (p.Leu331Gln)
c.1037T>A (p.Leu346Gln)
c.869T>A (p.Leu290Gln)
c.1160T>A (p.Leu387Gln)
c.1081-49T>A (n.1081-49T>A)
4g.154569724T>CCA358515365FGBc.1169T>C (p.Leu390Pro)
n.939+417T>C
c.512T>C (p.Leu171Pro)
c.992T>C (p.Leu331Pro)
c.1037T>C (p.Leu346Pro)
c.869T>C (p.Leu290Pro)
c.1160T>C (p.Leu387Pro)
c.1081-49T>C (n.1081-49T>C)
dbSNP gnomAD v2 gnomAD v4
4g.154569724T>GCA358515366FGBc.1169T>G (p.Leu390Arg)
n.939+417T>G
c.512T>G (p.Leu171Arg)
c.992T>G (p.Leu331Arg)
c.1037T>G (p.Leu346Arg)
c.869T>G (p.Leu290Arg)
c.1160T>G (p.Leu387Arg)
c.1081-49T>G (n.1081-49T>G)
4g.154569724T=CA1504935557FGBc.1169T= (p.Leu390=)
n.939+417T=
c.512T= (p.Leu171=)
c.992T= (p.Leu331=)
c.1037T= (p.Leu346=)
c.869T= (p.Leu290=)
c.1160T= (p.Leu387=)
c.1081-49T= (n.1081-49T=)
4g.154569725G>ACA442013543FGBc.1170G>A (p.Leu390=)
n.939+418G>A
c.513G>A (p.Leu171=)
c.993G>A (p.Leu331=)
c.1038G>A (p.Leu346=)
c.870G>A (p.Leu290=)
c.1161G>A (p.Leu387=)
c.1081-48G>A (n.1081-48G>A)
4g.154569725G>CCA442013544FGBc.1170G>C (p.Leu390=)
n.939+418G>C
c.513G>C (p.Leu171=)
c.993G>C (p.Leu331=)
c.1038G>C (p.Leu346=)
c.870G>C (p.Leu290=)
c.1161G>C (p.Leu387=)
c.1081-48G>C (n.1081-48G>C)
4g.154569725G>TCA442013545FGBc.1170G>T (p.Leu390=)
n.939+418G>T
c.513G>T (p.Leu171=)
c.993G>T (p.Leu331=)
c.1038G>T (p.Leu346=)
c.870G>T (p.Leu290=)
c.1161G>T (p.Leu387=)
c.1081-48G>T (n.1081-48G>T)
4g.154569726A=CA1504935559FGBc.1171A= (p.Met391=)
n.939+419A=
c.514A= (p.Met172=)
c.994A= (p.Met332=)
c.1039A= (p.Met347=)
c.871A= (p.Met291=)
c.1162A= (p.Met388=)
c.1081-47A= (n.1081-47A=)
4g.154569726A>CCA358515368FGBc.1171A>C (p.Met391Leu)
n.939+419A>C
c.514A>C (p.Met172Leu)
c.994A>C (p.Met332Leu)
c.1039A>C (p.Met347Leu)
c.871A>C (p.Met291Leu)
c.1162A>C (p.Met388Leu)
c.1081-47A>C (n.1081-47A>C)
4g.154569726A>GCA358515370FGBc.1171A>G (p.Met391Val)
n.939+419A>G
c.514A>G (p.Met172Val)
c.994A>G (p.Met332Val)
c.1039A>G (p.Met347Val)
c.871A>G (p.Met291Val)
c.1162A>G (p.Met388Val)
c.1081-47A>G (n.1081-47A>G)
dbSNP gnomAD v4
4g.154569726A>TCA358515372FGBc.1171A>T (p.Met391Leu)
n.939+419A>T
c.514A>T (p.Met172Leu)
c.994A>T (p.Met332Leu)
c.1039A>T (p.Met347Leu)
c.871A>T (p.Met291Leu)
c.1162A>T (p.Met388Leu)
c.1081-47A>T (n.1081-47A>T)
4g.154569727T>ACA358515373FGBc.1172T>A (p.Met391Lys)
n.939+420T>A
c.515T>A (p.Met172Lys)
c.995T>A (p.Met332Lys)
c.1040T>A (p.Met347Lys)
c.872T>A (p.Met291Lys)
c.1163T>A (p.Met388Lys)
c.1081-46T>A (n.1081-46T>A)
4g.154569727T>CCA3114733FGBc.1172T>C (p.Met391Thr)
n.939+420T>C
c.515T>C (p.Met172Thr)
c.995T>C (p.Met332Thr)
c.1040T>C (p.Met347Thr)
c.872T>C (p.Met291Thr)
c.1163T>C (p.Met388Thr)
c.1081-46T>C (n.1081-46T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569727T>GCA358515374FGBc.1172T>G (p.Met391Arg)
n.939+420T>G
c.515T>G (p.Met172Arg)
c.995T>G (p.Met332Arg)
c.1040T>G (p.Met347Arg)
c.872T>G (p.Met291Arg)
c.1163T>G (p.Met388Arg)
c.1081-46T>G (n.1081-46T>G)
4g.154569727T=CA1504935562FGBc.1172T= (p.Met391=)
n.939+420T=
c.515T= (p.Met172=)
c.995T= (p.Met332=)
c.1040T= (p.Met347=)
c.872T= (p.Met291=)
c.1163T= (p.Met388=)
c.1081-46T= (n.1081-46T=)
4g.154569728G>ACA358515375FGBc.1173G>A (p.Met391Ile)
n.939+421G>A
c.516G>A (p.Met172Ile)
c.996G>A (p.Met332Ile)
c.1041G>A (p.Met347Ile)
c.873G>A (p.Met291Ile)
c.1164G>A (p.Met388Ile)
c.1081-45G>A (n.1081-45G>A)
dbSNP gnomAD v3 gnomAD v4
4g.154569728G>CCA358515378FGBc.1173G>C (p.Met391Ile)
n.939+421G>C
c.516G>C (p.Met172Ile)
c.996G>C (p.Met332Ile)
c.1041G>C (p.Met347Ile)
c.873G>C (p.Met291Ile)
c.1164G>C (p.Met388Ile)
c.1081-45G>C (n.1081-45G>C)
4g.154569728G=CA1504935566FGBc.1173G= (p.Met391=)
n.939+421G=
c.516G= (p.Met172=)
c.996G= (p.Met332=)
c.1041G= (p.Met347=)
c.873G= (p.Met291=)
c.1164G= (p.Met388=)
c.1081-45G= (n.1081-45G=)
4g.154569728G>TCA358515380FGBc.1173G>T (p.Met391Ile)
n.939+421G>T
c.516G>T (p.Met172Ile)
c.996G>T (p.Met332Ile)
c.1041G>T (p.Met347Ile)
c.873G>T (p.Met291Ile)
c.1164G>T (p.Met388Ile)
c.1081-45G>T (n.1081-45G>T)
4g.154569729G>ACA108751724FGBc.1174G>A (p.Gly392Arg)
n.939+422G>A
c.517G>A (p.Gly173Arg)
c.997G>A (p.Gly333Arg)
c.1042G>A (p.Gly348Arg)
c.874G>A (p.Gly292Arg)
c.1165G>A (p.Gly389Arg)
c.1081-44G>A (n.1081-44G>A)
dbSNP gnomAD v2 gnomAD v4
4g.154569729G>CCA358515383FGBc.1174G>C (p.Gly392Arg)
n.939+422G>C
c.517G>C (p.Gly173Arg)
c.997G>C (p.Gly333Arg)
c.1042G>C (p.Gly348Arg)
c.874G>C (p.Gly292Arg)
c.1165G>C (p.Gly389Arg)
c.1081-44G>C (n.1081-44G>C)
4g.154569729G=CA1504935568FGBc.1174G= (p.Gly392=)
n.939+422G=
c.517G= (p.Gly173=)
c.997G= (p.Gly333=)
c.1042G= (p.Gly348=)
c.874G= (p.Gly292=)
c.1165G= (p.Gly389=)
c.1081-44G= (n.1081-44G=)
4g.154569729G>TCA358515381FGBc.1174G>T (p.Gly392Ter)
n.939+422G>T
c.517G>T (p.Gly173Ter)
c.997G>T (p.Gly333Ter)
c.1042G>T (p.Gly348Ter)
c.874G>T (p.Gly292Ter)
c.1165G>T (p.Gly389Ter)
c.1081-44G>T (n.1081-44G>T)
4g.154569730G>ACA358515386FGBc.1175G>A (p.Gly392Glu)
n.939+423G>A
c.518G>A (p.Gly173Glu)
c.998G>A (p.Gly333Glu)
c.1043G>A (p.Gly348Glu)
c.875G>A (p.Gly292Glu)
c.1166G>A (p.Gly389Glu)
c.1081-43G>A (n.1081-43G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569730G>CCA3114734FGBc.1175G>C (p.Gly392Ala)
n.939+423G>C
c.518G>C (p.Gly173Ala)
c.998G>C (p.Gly333Ala)
c.1043G>C (p.Gly348Ala)
c.875G>C (p.Gly292Ala)
c.1166G>C (p.Gly389Ala)
c.1081-43G>C (n.1081-43G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569730G=CA1504935570FGBc.1175G= (p.Gly392=)
n.939+423G=
c.518G= (p.Gly173=)
c.998G= (p.Gly333=)
c.1043G= (p.Gly348=)
c.875G= (p.Gly292=)
c.1166G= (p.Gly389=)
c.1081-43G= (n.1081-43G=)
4g.154569730G>TCA358515387FGBc.1175G>T (p.Gly392Val)
n.939+423G>T
c.518G>T (p.Gly173Val)
c.998G>T (p.Gly333Val)
c.1043G>T (p.Gly348Val)
c.875G>T (p.Gly292Val)
c.1166G>T (p.Gly389Val)
c.1081-43G>T (n.1081-43G>T)
4g.154569731A=CA1504935574FGBc.1176A= (p.Gly392=)
n.939+424A=
c.519A= (p.Gly173=)
c.999A= (p.Gly333=)
c.1044A= (p.Gly348=)
c.876A= (p.Gly292=)
c.1167A= (p.Gly389=)
c.1081-42A= (n.1081-42A=)
4g.154569731A>CCA442013550FGBc.1176A>C (p.Gly392=)
n.939+424A>C
c.519A>C (p.Gly173=)
c.999A>C (p.Gly333=)
c.1044A>C (p.Gly348=)
c.876A>C (p.Gly292=)
c.1167A>C (p.Gly389=)
c.1081-42A>C (n.1081-42A>C)
4g.154569731A>GCA442013551FGBc.1176A>G (p.Gly392=)
n.939+424A>G
c.519A>G (p.Gly173=)
c.999A>G (p.Gly333=)
c.1044A>G (p.Gly348=)
c.876A>G (p.Gly292=)
c.1167A>G (p.Gly389=)
c.1081-42A>G (n.1081-42A>G)
dbSNP gnomAD v4
4g.154569731A>TCA442013552FGBc.1176A>T (p.Gly392=)
n.939+424A>T
c.519A>T (p.Gly173=)
c.999A>T (p.Gly333=)
c.1044A>T (p.Gly348=)
c.876A>T (p.Gly292=)
c.1167A>T (p.Gly389=)
c.1081-42A>T (n.1081-42A>T)
dbSNP gnomAD v2 gnomAD v4
4g.154569732G>ACA358515390FGBc.1177G>A (p.Glu393Lys)
n.939+425G>A
c.520G>A (p.Glu174Lys)
c.1000G>A (p.Glu334Lys)
c.1045G>A (p.Glu349Lys)
c.877G>A (p.Glu293Lys)
c.1168G>A (p.Glu390Lys)
c.1081-41G>A (n.1081-41G>A)
4g.154569732G>CCA358515392FGBc.1177G>C (p.Glu393Gln)
n.939+425G>C
c.520G>C (p.Glu174Gln)
c.1000G>C (p.Glu334Gln)
c.1045G>C (p.Glu349Gln)
c.877G>C (p.Glu293Gln)
c.1168G>C (p.Glu390Gln)
c.1081-41G>C (n.1081-41G>C)
4g.154569732G>TCA358515393FGBc.1177G>T (p.Glu393Ter)
n.939+425G>T
c.520G>T (p.Glu174Ter)
c.1000G>T (p.Glu334Ter)
c.1045G>T (p.Glu349Ter)
c.877G>T (p.Glu293Ter)
c.1168G>T (p.Glu390Ter)
c.1081-41G>T (n.1081-41G>T)
4g.154569733A>CCA358515396FGBc.1178A>C (p.Glu393Ala)
n.939+426A>C
c.521A>C (p.Glu174Ala)
c.1001A>C (p.Glu334Ala)
c.1046A>C (p.Glu349Ala)
c.878A>C (p.Glu293Ala)
c.1169A>C (p.Glu390Ala)
c.1081-40A>C (n.1081-40A>C)
4g.154569733A>GCA358515398FGBc.1178A>G (p.Glu393Gly)
n.939+426A>G
c.521A>G (p.Glu174Gly)
c.1001A>G (p.Glu334Gly)
c.1046A>G (p.Glu349Gly)
c.878A>G (p.Glu293Gly)
c.1169A>G (p.Glu390Gly)
c.1081-40A>G (n.1081-40A>G)
4g.154569733A>TCA358515400FGBc.1178A>T (p.Glu393Val)
n.939+426A>T
c.521A>T (p.Glu174Val)
c.1001A>T (p.Glu334Val)
c.1046A>T (p.Glu349Val)
c.878A>T (p.Glu293Val)
c.1169A>T (p.Glu390Val)
c.1081-40A>T (n.1081-40A>T)
4g.154569736dupCA2838032740FGBc.1181dup (p.Asn394LysfsTer16)
n.939+429dup
c.524dup (p.Asn175LysfsTer16)
c.1004dup (p.Asn335LysfsTer16)
c.1049dup (p.Asn350LysfsTer16)
c.881dup (p.Asn294LysfsTer16)
c.1172dup (p.Asn391LysfsTer16)
c.1081-37dup (n.1081-37dup)
c.1181dup (p.Asn394LysfsTer25)
4g.154569734A=CA1504935577FGBc.1179A= (p.Glu393=)
n.939+427A=
c.522A= (p.Glu174=)
c.1002A= (p.Glu334=)
c.1047A= (p.Glu349=)
c.879A= (p.Glu293=)
c.1170A= (p.Glu390=)
c.1081-39A= (n.1081-39A=)
4g.154569734A>CCA358515402FGBc.1179A>C (p.Glu393Asp)
n.939+427A>C
c.522A>C (p.Glu174Asp)
c.1002A>C (p.Glu334Asp)
c.1047A>C (p.Glu349Asp)
c.879A>C (p.Glu293Asp)
c.1170A>C (p.Glu390Asp)
c.1081-39A>C (n.1081-39A>C)
4g.154569734A>GCA3114735FGBc.1179A>G (p.Glu393=)
n.939+427A>G
c.522A>G (p.Glu174=)
c.1002A>G (p.Glu334=)
c.1047A>G (p.Glu349=)
c.879A>G (p.Glu293=)
c.1170A>G (p.Glu390=)
c.1081-39A>G (n.1081-39A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569734A>TCA358515403FGBc.1179A>T (p.Glu393Asp)
n.939+427A>T
c.522A>T (p.Glu174Asp)
c.1002A>T (p.Glu334Asp)
c.1047A>T (p.Glu349Asp)
c.879A>T (p.Glu293Asp)
c.1170A>T (p.Glu390Asp)
c.1081-39A>T (n.1081-39A>T)
4g.154569735A>CCA358515409FGBc.1180A>C (p.Asn394His)
n.939+428A>C
c.523A>C (p.Asn175His)
c.1003A>C (p.Asn335His)
c.1048A>C (p.Asn350His)
c.880A>C (p.Asn294His)
c.1171A>C (p.Asn391His)
c.1081-38A>C (n.1081-38A>C)
4g.154569735A>GCA358515407FGBc.1180A>G (p.Asn394Asp)
n.939+428A>G
c.523A>G (p.Asn175Asp)
c.1003A>G (p.Asn335Asp)
c.1048A>G (p.Asn350Asp)
c.880A>G (p.Asn294Asp)
c.1171A>G (p.Asn391Asp)
c.1081-38A>G (n.1081-38A>G)
4g.154569735A>TCA358515405FGBc.1180A>T (p.Asn394Tyr)
n.939+428A>T
c.523A>T (p.Asn175Tyr)
c.1003A>T (p.Asn335Tyr)
c.1048A>T (p.Asn350Tyr)
c.880A>T (p.Asn294Tyr)
c.1171A>T (p.Asn391Tyr)
c.1081-38A>T (n.1081-38A>T)
4g.154569736A>CCA358515410FGBc.1181A>C (p.Asn394Thr)
n.939+429A>C
c.524A>C (p.Asn175Thr)
c.1004A>C (p.Asn335Thr)
c.1049A>C (p.Asn350Thr)
c.881A>C (p.Asn294Thr)
c.1172A>C (p.Asn391Thr)
c.1081-37A>C (n.1081-37A>C)
4g.154569736A>GCA358515411FGBc.1181A>G (p.Asn394Ser)
n.939+429A>G
c.524A>G (p.Asn175Ser)
c.1004A>G (p.Asn335Ser)
c.1049A>G (p.Asn350Ser)
c.881A>G (p.Asn294Ser)
c.1172A>G (p.Asn391Ser)
c.1081-37A>G (n.1081-37A>G)
4g.154569736A>TCA358515412FGBc.1181A>T (p.Asn394Ile)
n.939+429A>T
c.524A>T (p.Asn175Ile)
c.1004A>T (p.Asn335Ile)
c.1049A>T (p.Asn350Ile)
c.881A>T (p.Asn294Ile)
c.1172A>T (p.Asn391Ile)
c.1081-37A>T (n.1081-37A>T)
4g.154569737C>ACA358515413FGBc.1182C>A (p.Asn394Lys)
n.939+430C>A
c.525C>A (p.Asn175Lys)
c.1005C>A (p.Asn335Lys)
c.1050C>A (p.Asn350Lys)
c.882C>A (p.Asn294Lys)
c.1173C>A (p.Asn391Lys)
c.1081-36C>A (n.1081-36C>A)
4g.154569737C>GCA358515415FGBc.1182C>G (p.Asn394Lys)
n.939+430C>G
c.525C>G (p.Asn175Lys)
c.1005C>G (p.Asn335Lys)
c.1050C>G (p.Asn350Lys)
c.882C>G (p.Asn294Lys)
c.1173C>G (p.Asn391Lys)
c.1081-36C>G (n.1081-36C>G)
4g.154569737C>TCA442013562FGBc.1182C>T (p.Asn394=)
n.939+430C>T
c.525C>T (p.Asn175=)
c.1005C>T (p.Asn335=)
c.1050C>T (p.Asn350=)
c.882C>T (p.Asn294=)
c.1173C>T (p.Asn391=)
c.1081-36C>T (n.1081-36C>T)
4g.154569738A=CA1504935579FGBc.1183A= (p.Arg395=)
n.939+431A=
c.526A= (p.Arg176=)
c.1006A= (p.Arg336=)
c.1051A= (p.Arg351=)
c.883A= (p.Arg295=)
c.1174A= (p.Arg392=)
c.1081-35A= (n.1081-35A=)
4g.154569738A>CCA442013563FGBc.1183A>C (p.Arg395=)
n.939+431A>C
c.526A>C (p.Arg176=)
c.1006A>C (p.Arg336=)
c.1051A>C (p.Arg351=)
c.883A>C (p.Arg295=)
c.1174A>C (p.Arg392=)
c.1081-35A>C (n.1081-35A>C)
4g.154569738A>GCA3114736FGBc.1183A>G (p.Arg395Gly)
n.939+431A>G
c.526A>G (p.Arg176Gly)
c.1006A>G (p.Arg336Gly)
c.1051A>G (p.Arg351Gly)
c.883A>G (p.Arg295Gly)
c.1174A>G (p.Arg392Gly)
c.1081-35A>G (n.1081-35A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569738A>TCA358515417FGBc.1183A>T (p.Arg395Trp)
n.939+431A>T
c.526A>T (p.Arg176Trp)
c.1006A>T (p.Arg336Trp)
c.1051A>T (p.Arg351Trp)
c.883A>T (p.Arg295Trp)
c.1174A>T (p.Arg392Trp)
c.1081-35A>T (n.1081-35A>T)
4g.154569739G>ACA358515419FGBc.1184G>A (p.Arg395Lys)
n.939+432G>A
c.527G>A (p.Arg176Lys)
c.1007G>A (p.Arg336Lys)
c.1052G>A (p.Arg351Lys)
c.884G>A (p.Arg295Lys)
c.1175G>A (p.Arg392Lys)
c.1081-34G>A (n.1081-34G>A)
gnomAD v4
4g.154569739G>CCA358515420FGBc.1184G>C (p.Arg395Thr)
n.939+432G>C
c.527G>C (p.Arg176Thr)
c.1007G>C (p.Arg336Thr)
c.1052G>C (p.Arg351Thr)
c.884G>C (p.Arg295Thr)
c.1175G>C (p.Arg392Thr)
c.1081-34G>C (n.1081-34G>C)
4g.154569739G>TCA358515421FGBc.1184G>T (p.Arg395Met)
n.939+432G>T
c.527G>T (p.Arg176Met)
c.1007G>T (p.Arg336Met)
c.1052G>T (p.Arg351Met)
c.884G>T (p.Arg295Met)
c.1175G>T (p.Arg392Met)
c.1081-34G>T (n.1081-34G>T)
4g.154569739_154569745delinsGGACCATCA1504935582FGBc.1184_1190delinsGGACCAT (p.Arg395=)
n.939+432_939+438delinsGGACCAT
c.527_533delinsGGACCAT (p.Arg176=)
c.1007_1013delinsGGACCAT (p.Arg336=)
c.1052_1058delinsGGACCAT (p.Arg351=)
c.884_890delinsGGACCAT (p.Arg295=)
c.1175_1181delinsGGACCAT (p.Arg392=)
c.1081-34_1081-28delinsGGACCAT (n.1081-34_1081-28delinsGGACCAT)
4g.154569740G>ACA442013568FGBc.1185G>A (p.Arg395=)
n.939+433G>A
c.528G>A (p.Arg176=)
c.1008G>A (p.Arg336=)
c.1053G>A (p.Arg351=)
c.885G>A (p.Arg295=)
c.1176G>A (p.Arg392=)
c.1081-33G>A (n.1081-33G>A)
dbSNP gnomAD v4
4g.154569740G>CCA358515423FGBc.1185G>C (p.Arg395Ser)
n.939+433G>C
c.528G>C (p.Arg176Ser)
c.1008G>C (p.Arg336Ser)
c.1053G>C (p.Arg351Ser)
c.885G>C (p.Arg295Ser)
c.1176G>C (p.Arg392Ser)
c.1081-33G>C (n.1081-33G>C)
4g.154569740G=CA1504935587FGBc.1185G= (p.Arg395=)
n.939+433G=
c.528G= (p.Arg176=)
c.1008G= (p.Arg336=)
c.1053G= (p.Arg351=)
c.885G= (p.Arg295=)
c.1176G= (p.Arg392=)
c.1081-33G= (n.1081-33G=)
4g.154569740G>TCA358515425FGBc.1185G>T (p.Arg395Ser)
n.939+433G>T
c.528G>T (p.Arg176Ser)
c.1008G>T (p.Arg336Ser)
c.1053G>T (p.Arg351Ser)
c.885G>T (p.Arg295Ser)
c.1176G>T (p.Arg392Ser)
c.1081-33G>T (n.1081-33G>T)
4g.154569746_154569751delCA3114737FGBc.1191_1196del (p.Met397_Thr398del)
n.939+439_939+444del
c.534_539del (p.Met178_Thr179del)
c.1014_1019del (p.Met338_Thr339del)
c.1059_1064del (p.Met353_Thr354del)
c.891_896del (p.Met297_Thr298del)
c.1182_1187del (p.Met394_Thr395del)
c.1081-27_1081-22del (n.1081-27_1081-22del)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569741A>CCA358515430FGBc.1186A>C (p.Thr396Pro)
n.939+434A>C
c.529A>C (p.Thr177Pro)
c.1009A>C (p.Thr337Pro)
c.1054A>C (p.Thr352Pro)
c.886A>C (p.Thr296Pro)
c.1177A>C (p.Thr393Pro)
c.1081-32A>C (n.1081-32A>C)
4g.154569741A>GCA358515426FGBc.1186A>G (p.Thr396Ala)
n.939+434A>G
c.529A>G (p.Thr177Ala)
c.1009A>G (p.Thr337Ala)
c.1054A>G (p.Thr352Ala)
c.886A>G (p.Thr296Ala)
c.1177A>G (p.Thr393Ala)
c.1081-32A>G (n.1081-32A>G)
4g.154569741A>TCA358515428FGBc.1186A>T (p.Thr396Ser)
n.939+434A>T
c.529A>T (p.Thr177Ser)
c.1009A>T (p.Thr337Ser)
c.1054A>T (p.Thr352Ser)
c.886A>T (p.Thr296Ser)
c.1177A>T (p.Thr393Ser)
c.1081-32A>T (n.1081-32A>T)
gnomAD v4
4g.154569742C>ACA358515431FGBc.1187C>A (p.Thr396Asn)
n.939+435C>A
c.530C>A (p.Thr177Asn)
c.1010C>A (p.Thr337Asn)
c.1055C>A (p.Thr352Asn)
c.887C>A (p.Thr296Asn)
c.1178C>A (p.Thr393Asn)
c.1081-31C>A (n.1081-31C>A)
4g.154569742C>GCA358515432FGBc.1187C>G (p.Thr396Ser)
n.939+435C>G
c.530C>G (p.Thr177Ser)
c.1010C>G (p.Thr337Ser)
c.1055C>G (p.Thr352Ser)
c.887C>G (p.Thr296Ser)
c.1178C>G (p.Thr393Ser)
c.1081-31C>G (n.1081-31C>G)
4g.154569742C>TCA358515434FGBc.1187C>T (p.Thr396Ile)
n.939+435C>T
c.530C>T (p.Thr177Ile)
c.1010C>T (p.Thr337Ile)
c.1055C>T (p.Thr352Ile)
c.887C>T (p.Thr296Ile)
c.1178C>T (p.Thr393Ile)
c.1081-31C>T (n.1081-31C>T)
gnomAD v4
4g.154569743C>ACA442013573FGBc.1188C>A (p.Thr396=)
n.939+436C>A
c.531C>A (p.Thr177=)
c.1011C>A (p.Thr337=)
c.1056C>A (p.Thr352=)
c.888C>A (p.Thr296=)
c.1179C>A (p.Thr393=)
c.1081-30C>A (n.1081-30C>A)
gnomAD v4 COSMIC
4g.154569743C=CA1504935590FGBc.1188C= (p.Thr396=)
n.939+436C=
c.531C= (p.Thr177=)
c.1011C= (p.Thr337=)
c.1056C= (p.Thr352=)
c.888C= (p.Thr296=)
c.1179C= (p.Thr393=)
c.1081-30C= (n.1081-30C=)
4g.154569743C>GCA442013574FGBc.1188C>G (p.Thr396=)
n.939+436C>G
c.531C>G (p.Thr177=)
c.1011C>G (p.Thr337=)
c.1056C>G (p.Thr352=)
c.888C>G (p.Thr296=)
c.1179C>G (p.Thr393=)
c.1081-30C>G (n.1081-30C>G)
dbSNP gnomAD v2 gnomAD v4
4g.154569743C>TCA442013576FGBc.1188C>T (p.Thr396=)
n.939+436C>T
c.531C>T (p.Thr177=)
c.1011C>T (p.Thr337=)
c.1056C>T (p.Thr352=)
c.888C>T (p.Thr296=)
c.1179C>T (p.Thr393=)
c.1081-30C>T (n.1081-30C>T)
4g.154569744A=CA1504935593FGBc.1189A= (p.Met397=)
n.939+437A=
c.532A= (p.Met178=)
c.1012A= (p.Met338=)
c.1057A= (p.Met353=)
c.889A= (p.Met297=)
c.1180A= (p.Met394=)
c.1081-29A= (n.1081-29A=)
4g.154569744A>CCA358515435FGBc.1189A>C (p.Met397Leu)
n.939+437A>C
c.532A>C (p.Met178Leu)
c.1012A>C (p.Met338Leu)
c.1057A>C (p.Met353Leu)
c.889A>C (p.Met297Leu)
c.1180A>C (p.Met394Leu)
c.1081-29A>C (n.1081-29A>C)
4g.154569744A>GCA108751728FGBc.1189A>G (p.Met397Val)
n.939+437A>G
c.532A>G (p.Met178Val)
c.1012A>G (p.Met338Val)
c.1057A>G (p.Met353Val)
c.889A>G (p.Met297Val)
c.1180A>G (p.Met394Val)
c.1081-29A>G (n.1081-29A>G)
dbSNP gnomAD v2 gnomAD v4
4g.154569744A>TCA358515438FGBc.1189A>T (p.Met397Leu)
n.939+437A>T
c.532A>T (p.Met178Leu)
c.1012A>T (p.Met338Leu)
c.1057A>T (p.Met353Leu)
c.889A>T (p.Met297Leu)
c.1180A>T (p.Met394Leu)
c.1081-29A>T (n.1081-29A>T)
4g.154569745T>ACA358515440FGBc.1190T>A (p.Met397Lys)
n.939+438T>A
c.533T>A (p.Met178Lys)
c.1013T>A (p.Met338Lys)
c.1058T>A (p.Met353Lys)
c.890T>A (p.Met297Lys)
c.1181T>A (p.Met394Lys)
c.1081-28T>A (n.1081-28T>A)
4g.154569745T>CCA108751729FGBc.1190T>C (p.Met397Thr)
n.939+438T>C
c.533T>C (p.Met178Thr)
c.1013T>C (p.Met338Thr)
c.1058T>C (p.Met353Thr)
c.890T>C (p.Met297Thr)
c.1181T>C (p.Met394Thr)
c.1081-28T>C (n.1081-28T>C)
dbSNP gnomAD v4
4g.154569745T>GCA358515442FGBc.1190T>G (p.Met397Arg)
n.939+438T>G
c.533T>G (p.Met178Arg)
c.1013T>G (p.Met338Arg)
c.1058T>G (p.Met353Arg)
c.890T>G (p.Met297Arg)
c.1181T>G (p.Met394Arg)
c.1081-28T>G (n.1081-28T>G)
4g.154569745T=CA1504935595FGBc.1190T= (p.Met397=)
n.939+438T=
c.533T= (p.Met178=)
c.1013T= (p.Met338=)
c.1058T= (p.Met353=)
c.890T= (p.Met297=)
c.1181T= (p.Met394=)
c.1081-28T= (n.1081-28T=)
4g.154569746G>ACA3114738FGBc.1191G>A (p.Met397Ile)
n.939+439G>A
c.534G>A (p.Met178Ile)
c.1014G>A (p.Met338Ile)
c.1059G>A (p.Met353Ile)
c.891G>A (p.Met297Ile)
c.1182G>A (p.Met394Ile)
c.1081-27G>A (n.1081-27G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569746G>CCA358515444FGBc.1191G>C (p.Met397Ile)
n.939+439G>C
c.534G>C (p.Met178Ile)
c.1014G>C (p.Met338Ile)
c.1059G>C (p.Met353Ile)
c.891G>C (p.Met297Ile)
c.1182G>C (p.Met394Ile)
c.1081-27G>C (n.1081-27G>C)
gnomAD v4
4g.154569746G=CA1504935597FGBc.1191G= (p.Met397=)
n.939+439G=
c.534G= (p.Met178=)
c.1014G= (p.Met338=)
c.1059G= (p.Met353=)
c.891G= (p.Met297=)
c.1182G= (p.Met394=)
c.1081-27G= (n.1081-27G=)
4g.154569746G>TCA358515446FGBc.1191G>T (p.Met397Ile)
n.939+439G>T
c.534G>T (p.Met178Ile)
c.1014G>T (p.Met338Ile)
c.1059G>T (p.Met353Ile)
c.891G>T (p.Met297Ile)
c.1182G>T (p.Met394Ile)
c.1081-27G>T (n.1081-27G>T)

Number of alleles fetched