Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38712119_38712152delinsCGGCCAAAGCAAGAGATATGGTTGATCTCATGGTCA1358635229SCN10Ac.4089+9_4089+42delinsACCATGAGATCAACCATATCTCTTGCTTTGGCCG (n.4089+9_4089+42delinsACCATGAGATCAACCATATCTCTTGCTTTGGCCG)
c.4086+9_4086+42delinsACCATGAGATCAACCATATCTCTTGCTTTGGCCG (n.4086+9_4086+42delinsACCATGAGATCAACCATATCTCTTGCTTTGGCCG)
c.4113+9_4113+42delinsACCATGAGATCAACCATATCTCTTGCTTTGGCCG (n.4113+9_4113+42delinsACCATGAGATCAACCATATCTCTTGCTTTGGCCG)
c.3795+9_3795+42delinsACCATGAGATCAACCATATCTCTTGCTTTGGCCG (n.3795+9_3795+42delinsACCATGAGATCAACCATATCTCTTGCTTTGGCCG)
c.4098+9_4098+42delinsACCATGAGATCAACCATATCTCTTGCTTTGGCCG (n.4098+9_4098+42delinsACCATGAGATCAACCATATCTCTTGCTTTGGCCG)
c.4095+9_4095+42delinsACCATGAGATCAACCATATCTCTTGCTTTGGCCG (n.4095+9_4095+42delinsACCATGAGATCAACCATATCTCTTGCTTTGGCCG)
c.3804+9_3804+42delinsACCATGAGATCAACCATATCTCTTGCTTTGGCCG (n.3804+9_3804+42delinsACCATGAGATCAACCATATCTCTTGCTTTGGCCG)
3g.38712120_38712152delCA2320028SCN10Ac.4089+9_4089+41del (n.4089+9_4089+41del)
c.4086+9_4086+41del (n.4086+9_4086+41del)
c.4113+9_4113+41del (n.4113+9_4113+41del)
c.3795+9_3795+41del (n.3795+9_3795+41del)
c.4098+9_4098+41del (n.4098+9_4098+41del)
c.4095+9_4095+41del (n.4095+9_4095+41del)
c.3804+9_3804+41del (n.3804+9_3804+41del)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712148A=CA1358635263SCN10Ac.4089+13T= (n.4089+13T=)
c.4086+13T= (n.4086+13T=)
c.4113+13T= (n.4113+13T=)
c.3795+13T= (n.3795+13T=)
c.4098+13T= (n.4098+13T=)
c.4095+13T= (n.4095+13T=)
c.3804+13T= (n.3804+13T=)
3g.38712148A>CCA2577553907SCN10Ac.4089+13T>G (n.4089+13T>G)
c.4086+13T>G (n.4086+13T>G)
c.4113+13T>G (n.4113+13T>G)
c.3795+13T>G (n.3795+13T>G)
c.4098+13T>G (n.4098+13T>G)
c.4095+13T>G (n.4095+13T>G)
c.3804+13T>G (n.3804+13T>G)
gnomAD v4
3g.38712148A>GCA2320035SCN10Ac.4089+13T>C (n.4089+13T>C)
c.4086+13T>C (n.4086+13T>C)
c.4113+13T>C (n.4113+13T>C)
c.3795+13T>C (n.3795+13T>C)
c.4098+13T>C (n.4098+13T>C)
c.4095+13T>C (n.4095+13T>C)
c.3804+13T>C (n.3804+13T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712148A>TCA1358635262SCN10Ac.4089+13T>A (n.4089+13T>A)
c.4086+13T>A (n.4086+13T>A)
c.4113+13T>A (n.4113+13T>A)
c.3795+13T>A (n.3795+13T>A)
c.4098+13T>A (n.4098+13T>A)
c.4095+13T>A (n.4095+13T>A)
c.3804+13T>A (n.3804+13T>A)
dbSNP gnomAD v4
3g.38712149T>ACA2320036SCN10Ac.4089+12A>T (n.4089+12A>T)
c.4086+12A>T (n.4086+12A>T)
c.4113+12A>T (n.4113+12A>T)
c.3795+12A>T (n.3795+12A>T)
c.4098+12A>T (n.4098+12A>T)
c.4095+12A>T (n.4095+12A>T)
c.3804+12A>T (n.3804+12A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712149T>CCA1046997123SCN10Ac.4089+12A>G (n.4089+12A>G)
c.4086+12A>G (n.4086+12A>G)
c.4113+12A>G (n.4113+12A>G)
c.3795+12A>G (n.3795+12A>G)
c.4098+12A>G (n.4098+12A>G)
c.4095+12A>G (n.4095+12A>G)
c.3804+12A>G (n.3804+12A>G)
dbSNP gnomAD v3 gnomAD v4
3g.38712149T=CA1358635266SCN10Ac.4089+12A= (n.4089+12A=)
c.4086+12A= (n.4086+12A=)
c.4113+12A= (n.4113+12A=)
c.3795+12A= (n.3795+12A=)
c.4098+12A= (n.4098+12A=)
c.4095+12A= (n.4095+12A=)
c.3804+12A= (n.3804+12A=)
3g.38712150G>ACA2573136298SCN10Ac.4089+11C>T (n.4089+11C>T)
c.4086+11C>T (n.4086+11C>T)
c.4113+11C>T (n.4113+11C>T)
c.3795+11C>T (n.3795+11C>T)
c.4098+11C>T (n.4098+11C>T)
c.4095+11C>T (n.4095+11C>T)
c.3804+11C>T (n.3804+11C>T)
ClinVar dbSNP
3g.38712150G>CCA2665099111SCN10Ac.4089+11C>G (n.4089+11C>G)
c.4086+11C>G (n.4086+11C>G)
c.4113+11C>G (n.4113+11C>G)
c.3795+11C>G (n.3795+11C>G)
c.4098+11C>G (n.4098+11C>G)
c.4095+11C>G (n.4095+11C>G)
c.3804+11C>G (n.3804+11C>G)
gnomAD v4
3g.38712150G>TCA2577553908SCN10Ac.4089+11C>A (n.4089+11C>A)
c.4086+11C>A (n.4086+11C>A)
c.4113+11C>A (n.4113+11C>A)
c.3795+11C>A (n.3795+11C>A)
c.4098+11C>A (n.4098+11C>A)
c.4095+11C>A (n.4095+11C>A)
c.3804+11C>A (n.3804+11C>A)
3g.38712151G>ACA2665099115SCN10Ac.4089+10C>T (n.4089+10C>T)
c.4086+10C>T (n.4086+10C>T)
c.4113+10C>T (n.4113+10C>T)
c.3795+10C>T (n.3795+10C>T)
c.4098+10C>T (n.4098+10C>T)
c.4095+10C>T (n.4095+10C>T)
c.3804+10C>T (n.3804+10C>T)
gnomAD v4
3g.38712151G>CCA2665099116SCN10Ac.4089+10C>G (n.4089+10C>G)
c.4086+10C>G (n.4086+10C>G)
c.4113+10C>G (n.4113+10C>G)
c.3795+10C>G (n.3795+10C>G)
c.4098+10C>G (n.4098+10C>G)
c.4095+10C>G (n.4095+10C>G)
c.3804+10C>G (n.3804+10C>G)
gnomAD v4
3g.38712152T>CCA72950402SCN10Ac.4089+9A>G (n.4089+9A>G)
c.4086+9A>G (n.4086+9A>G)
c.4113+9A>G (n.4113+9A>G)
c.3795+9A>G (n.3795+9A>G)
c.4098+9A>G (n.4098+9A>G)
c.4095+9A>G (n.4095+9A>G)
c.3804+9A>G (n.3804+9A>G)
dbSNP gnomAD v4
3g.38712152T=CA1358635269SCN10Ac.4089+9A= (n.4089+9A=)
c.4086+9A= (n.4086+9A=)
c.4113+9A= (n.4113+9A=)
c.3795+9A= (n.3795+9A=)
c.4098+9A= (n.4098+9A=)
c.4095+9A= (n.4095+9A=)
c.3804+9A= (n.3804+9A=)
3g.38712153T>CCA1046997126SCN10Ac.4089+8A>G (n.4089+8A>G)
c.4086+8A>G (n.4086+8A>G)
c.4113+8A>G (n.4113+8A>G)
c.3795+8A>G (n.3795+8A>G)
c.4098+8A>G (n.4098+8A>G)
c.4095+8A>G (n.4095+8A>G)
c.3804+8A>G (n.3804+8A>G)
dbSNP gnomAD v3 gnomAD v4
3g.38712153T=CA1358635271SCN10Ac.4089+8A= (n.4089+8A=)
c.4086+8A= (n.4086+8A=)
c.4113+8A= (n.4113+8A=)
c.3795+8A= (n.3795+8A=)
c.4098+8A= (n.4098+8A=)
c.4095+8A= (n.4095+8A=)
c.3804+8A= (n.3804+8A=)
3g.38712154G>ACA2665099119SCN10Ac.4089+7C>T (n.4089+7C>T)
c.4086+7C>T (n.4086+7C>T)
c.4113+7C>T (n.4113+7C>T)
c.3795+7C>T (n.3795+7C>T)
c.4098+7C>T (n.4098+7C>T)
c.4095+7C>T (n.4095+7C>T)
c.3804+7C>T (n.3804+7C>T)
gnomAD v4
3g.38712154G>TCA2665099120SCN10Ac.4089+7C>A (n.4089+7C>A)
c.4086+7C>A (n.4086+7C>A)
c.4113+7C>A (n.4113+7C>A)
c.3795+7C>A (n.3795+7C>A)
c.4098+7C>A (n.4098+7C>A)
c.4095+7C>A (n.4095+7C>A)
c.3804+7C>A (n.3804+7C>A)
gnomAD v4
3g.38712158C=CA1358635273SCN10Ac.4089+3G= (n.4089+3G=)
c.4086+3G= (n.4086+3G=)
c.4113+3G= (n.4113+3G=)
c.3795+3G= (n.3795+3G=)
c.4098+3G= (n.4098+3G=)
c.4095+3G= (n.4095+3G=)
c.3804+3G= (n.3804+3G=)
3g.38712158C>TCA2320037SCN10Ac.4089+3G>A (n.4089+3G>A)
c.4086+3G>A (n.4086+3G>A)
c.4113+3G>A (n.4113+3G>A)
c.3795+3G>A (n.3795+3G>A)
c.4098+3G>A (n.4098+3G>A)
c.4095+3G>A (n.4095+3G>A)
c.3804+3G>A (n.3804+3G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712159A=CA1358635275SCN10Ac.4089+2T= (n.4089+2T=)
c.4086+2T= (n.4086+2T=)
c.4113+2T= (n.4113+2T=)
c.3795+2T= (n.3795+2T=)
c.4098+2T= (n.4098+2T=)
c.4095+2T= (n.4095+2T=)
c.3804+2T= (n.3804+2T=)
3g.38712159A>CCA352150432SCN10Ac.4089+2T>G (n.4089+2T>G)
c.4086+2T>G (n.4086+2T>G)
c.4113+2T>G (n.4113+2T>G)
c.3795+2T>G (n.3795+2T>G)
c.4098+2T>G (n.4098+2T>G)
c.4095+2T>G (n.4095+2T>G)
c.3804+2T>G (n.3804+2T>G)
dbSNP
3g.38712159A>GCA352150430SCN10Ac.4089+2T>C (n.4089+2T>C)
c.4086+2T>C (n.4086+2T>C)
c.4113+2T>C (n.4113+2T>C)
c.3795+2T>C (n.3795+2T>C)
c.4098+2T>C (n.4098+2T>C)
c.4095+2T>C (n.4095+2T>C)
c.3804+2T>C (n.3804+2T>C)
ClinVar dbSNP
3g.38712159A>TCA352150429SCN10Ac.4089+2T>A (n.4089+2T>A)
c.4086+2T>A (n.4086+2T>A)
c.4113+2T>A (n.4113+2T>A)
c.3795+2T>A (n.3795+2T>A)
c.4098+2T>A (n.4098+2T>A)
c.4095+2T>A (n.4095+2T>A)
c.3804+2T>A (n.3804+2T>A)
3g.38712160C>ACA352150434SCN10Ac.4089+1G>T (n.4089+1G>T)
c.4086+1G>T (n.4086+1G>T)
c.4113+1G>T (n.4113+1G>T)
c.3795+1G>T (n.3795+1G>T)
c.4098+1G>T (n.4098+1G>T)
c.4095+1G>T (n.4095+1G>T)
c.3804+1G>T (n.3804+1G>T)
3g.38712160C=CA1358635278SCN10Ac.4089+1G= (n.4089+1G=)
c.4086+1G= (n.4086+1G=)
c.4113+1G= (n.4113+1G=)
c.3795+1G= (n.3795+1G=)
c.4098+1G= (n.4098+1G=)
c.4095+1G= (n.4095+1G=)
c.3804+1G= (n.3804+1G=)
3g.38712160C>GCA2320038SCN10Ac.4089+1G>C (n.4089+1G>C)
c.4086+1G>C (n.4086+1G>C)
c.4113+1G>C (n.4113+1G>C)
c.3795+1G>C (n.3795+1G>C)
c.4098+1G>C (n.4098+1G>C)
c.4095+1G>C (n.4095+1G>C)
c.3804+1G>C (n.3804+1G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712160C>TCA352150438SCN10Ac.4089+1G>A (n.4089+1G>A)
c.4086+1G>A (n.4086+1G>A)
c.4113+1G>A (n.4113+1G>A)
c.3795+1G>A (n.3795+1G>A)
c.4098+1G>A (n.4098+1G>A)
c.4095+1G>A (n.4095+1G>A)
c.3804+1G>A (n.3804+1G>A)
ClinVar dbSNP gnomAD v4
3g.38712161C>ACA433136999SCN10Ac.4089G>T (p.Val1363=)
c.4086G>T (p.Val1362=)
c.4113G>T (p.Val1371=)
c.3795G>T (p.Val1265=)
c.4098G>T (p.Val1366=)
c.4095G>T (p.Val1365=)
c.3804G>T (p.Val1268=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38712161C=CA1358635280SCN10Ac.4089G= (p.Val1363=)
c.4086G= (p.Val1362=)
c.4113G= (p.Val1371=)
c.3795G= (p.Val1265=)
c.4098G= (p.Val1366=)
c.4095G= (p.Val1365=)
c.3804G= (p.Val1268=)
3g.38712161C>GCA433137000SCN10Ac.4089G>C (p.Val1363=)
c.4086G>C (p.Val1362=)
c.4113G>C (p.Val1371=)
c.3795G>C (p.Val1265=)
c.4098G>C (p.Val1366=)
c.4095G>C (p.Val1365=)
c.3804G>C (p.Val1268=)
gnomAD v4
3g.38712161C>TCA433136998SCN10Ac.4089G>A (p.Val1363=)
c.4086G>A (p.Val1362=)
c.4113G>A (p.Val1371=)
c.3795G>A (p.Val1265=)
c.4098G>A (p.Val1366=)
c.4095G>A (p.Val1365=)
c.3804G>A (p.Val1268=)
3g.38712162A>CCA352150439SCN10Ac.4088T>G (p.Val1363Gly)
c.4085T>G (p.Val1362Gly)
c.4112T>G (p.Val1371Gly)
c.3794T>G (p.Val1265Gly)
c.4097T>G (p.Val1366Gly)
c.4094T>G (p.Val1365Gly)
c.3803T>G (p.Val1268Gly)
3g.38712162A>GCA352150440SCN10Ac.4088T>C (p.Val1363Ala)
c.4085T>C (p.Val1362Ala)
c.4112T>C (p.Val1371Ala)
c.3794T>C (p.Val1265Ala)
c.4097T>C (p.Val1366Ala)
c.4094T>C (p.Val1365Ala)
c.3803T>C (p.Val1268Ala)
3g.38712162A>TCA352150441SCN10Ac.4088T>A (p.Val1363Glu)
c.4085T>A (p.Val1362Glu)
c.4112T>A (p.Val1371Glu)
c.3794T>A (p.Val1265Glu)
c.4097T>A (p.Val1366Glu)
c.4094T>A (p.Val1365Glu)
c.3803T>A (p.Val1268Glu)
3g.38712163C>ACA352150447SCN10Ac.4087G>T (p.Val1363Leu)
c.4084G>T (p.Val1362Leu)
c.4111G>T (p.Val1371Leu)
c.3793G>T (p.Val1265Leu)
c.4096G>T (p.Val1366Leu)
c.4093G>T (p.Val1365Leu)
c.3802G>T (p.Val1268Leu)
3g.38712163C>GCA352150443SCN10Ac.4087G>C (p.Val1363Leu)
c.4084G>C (p.Val1362Leu)
c.4111G>C (p.Val1371Leu)
c.3793G>C (p.Val1265Leu)
c.4096G>C (p.Val1366Leu)
c.4093G>C (p.Val1365Leu)
c.3802G>C (p.Val1268Leu)
3g.38712163C>TCA352150446SCN10Ac.4087G>A (p.Val1363Met)
c.4084G>A (p.Val1362Met)
c.4111G>A (p.Val1371Met)
c.3793G>A (p.Val1265Met)
c.4096G>A (p.Val1366Met)
c.4093G>A (p.Val1365Met)
c.3802G>A (p.Val1268Met)
ClinVar gnomAD v4
3g.38712164C>ACA352150449SCN10Ac.4086G>T (p.Gln1362His)
c.4083G>T (p.Gln1361His)
c.4110G>T (p.Gln1370His)
c.3792G>T (p.Gln1264His)
c.4095G>T (p.Gln1365His)
c.4092G>T (p.Gln1364His)
c.3801G>T (p.Gln1267His)
dbSNP gnomAD v2 gnomAD v4
3g.38712164C=CA1358635287SCN10Ac.4086G= (p.Gln1362=)
c.4083G= (p.Gln1361=)
c.4110G= (p.Gln1370=)
c.3792G= (p.Gln1264=)
c.4095G= (p.Gln1365=)
c.4092G= (p.Gln1364=)
c.3801G= (p.Gln1267=)
3g.38712164C>GCA2320039SCN10Ac.4086G>C (p.Gln1362His)
c.4083G>C (p.Gln1361His)
c.4110G>C (p.Gln1370His)
c.3792G>C (p.Gln1264His)
c.4095G>C (p.Gln1365His)
c.4092G>C (p.Gln1364His)
c.3801G>C (p.Gln1267His)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712164C>TCA433137006SCN10Ac.4086G>A (p.Gln1362=)
c.4083G>A (p.Gln1361=)
c.4110G>A (p.Gln1370=)
c.3792G>A (p.Gln1264=)
c.4095G>A (p.Gln1365=)
c.4092G>A (p.Gln1364=)
c.3801G>A (p.Gln1267=)
dbSNP
3g.38712165T>ACA352150452SCN10Ac.4085A>T (p.Gln1362Leu)
c.4082A>T (p.Gln1361Leu)
c.4109A>T (p.Gln1370Leu)
c.3791A>T (p.Gln1264Leu)
c.4094A>T (p.Gln1365Leu)
c.4091A>T (p.Gln1364Leu)
c.3800A>T (p.Gln1267Leu)
3g.38712165T>CCA352150453SCN10Ac.4085A>G (p.Gln1362Arg)
c.4082A>G (p.Gln1361Arg)
c.4109A>G (p.Gln1370Arg)
c.3791A>G (p.Gln1264Arg)
c.4094A>G (p.Gln1365Arg)
c.4091A>G (p.Gln1364Arg)
c.3800A>G (p.Gln1267Arg)
3g.38712165T>GCA352150455SCN10Ac.4085A>C (p.Gln1362Pro)
c.4082A>C (p.Gln1361Pro)
c.4109A>C (p.Gln1370Pro)
c.3791A>C (p.Gln1264Pro)
c.4094A>C (p.Gln1365Pro)
c.4091A>C (p.Gln1364Pro)
c.3800A>C (p.Gln1267Pro)
3g.38712166G>ACA352150458SCN10Ac.4084C>T (p.Gln1362Ter)
c.4081C>T (p.Gln1361Ter)
c.4108C>T (p.Gln1370Ter)
c.3790C>T (p.Gln1264Ter)
c.4093C>T (p.Gln1365Ter)
c.4090C>T (p.Gln1364Ter)
c.3799C>T (p.Gln1267Ter)
3g.38712166G>CCA352150461SCN10Ac.4084C>G (p.Gln1362Glu)
c.4081C>G (p.Gln1361Glu)
c.4108C>G (p.Gln1370Glu)
c.3790C>G (p.Gln1264Glu)
c.4093C>G (p.Gln1365Glu)
c.4090C>G (p.Gln1364Glu)
c.3799C>G (p.Gln1267Glu)
3g.38712166G>TCA352150459SCN10Ac.4084C>A (p.Gln1362Lys)
c.4081C>A (p.Gln1361Lys)
c.4108C>A (p.Gln1370Lys)
c.3790C>A (p.Gln1264Lys)
c.4093C>A (p.Gln1365Lys)
c.4090C>A (p.Gln1364Lys)
c.3799C>A (p.Gln1267Lys)
3g.38712167C>ACA433137009SCN10Ac.4083G>T (p.Leu1361=)
c.4080G>T (p.Leu1360=)
c.4107G>T (p.Leu1369=)
c.3789G>T (p.Leu1263=)
c.4092G>T (p.Leu1364=)
c.4089G>T (p.Leu1363=)
c.3798G>T (p.Leu1266=)
3g.38712167C>GCA433137010SCN10Ac.4083G>C (p.Leu1361=)
c.4080G>C (p.Leu1360=)
c.4107G>C (p.Leu1369=)
c.3789G>C (p.Leu1263=)
c.4092G>C (p.Leu1364=)
c.4089G>C (p.Leu1363=)
c.3798G>C (p.Leu1266=)
3g.38712167C>TCA433137011SCN10Ac.4083G>A (p.Leu1361=)
c.4080G>A (p.Leu1360=)
c.4107G>A (p.Leu1369=)
c.3789G>A (p.Leu1263=)
c.4092G>A (p.Leu1364=)
c.4089G>A (p.Leu1363=)
c.3798G>A (p.Leu1266=)
3g.38712168A=CA1358635288SCN10Ac.4082T= (p.Leu1361=)
c.4079T= (p.Leu1360=)
c.4106T= (p.Leu1369=)
c.3788T= (p.Leu1263=)
c.4091T= (p.Leu1364=)
c.4088T= (p.Leu1363=)
c.3797T= (p.Leu1266=)
3g.38712168A>CCA352150464SCN10Ac.4082T>G (p.Leu1361Arg)
c.4079T>G (p.Leu1360Arg)
c.4106T>G (p.Leu1369Arg)
c.3788T>G (p.Leu1263Arg)
c.4091T>G (p.Leu1364Arg)
c.4088T>G (p.Leu1363Arg)
c.3797T>G (p.Leu1266Arg)
3g.38712168A>GCA352150465SCN10Ac.4082T>C (p.Leu1361Pro)
c.4079T>C (p.Leu1360Pro)
c.4106T>C (p.Leu1369Pro)
c.3788T>C (p.Leu1263Pro)
c.4091T>C (p.Leu1364Pro)
c.4088T>C (p.Leu1363Pro)
c.3797T>C (p.Leu1266Pro)
dbSNP
3g.38712168A>TCA352150468SCN10Ac.4082T>A (p.Leu1361Gln)
c.4079T>A (p.Leu1360Gln)
c.4106T>A (p.Leu1369Gln)
c.3788T>A (p.Leu1263Gln)
c.4091T>A (p.Leu1364Gln)
c.4088T>A (p.Leu1363Gln)
c.3797T>A (p.Leu1266Gln)
3g.38712169G>ACA433137012SCN10Ac.4081C>T (p.Leu1361=)
c.4078C>T (p.Leu1360=)
c.4105C>T (p.Leu1369=)
c.3787C>T (p.Leu1263=)
c.4090C>T (p.Leu1364=)
c.4087C>T (p.Leu1363=)
c.3796C>T (p.Leu1266=)
gnomAD v4
3g.38712169G>CCA352150470SCN10Ac.4081C>G (p.Leu1361Val)
c.4078C>G (p.Leu1360Val)
c.4105C>G (p.Leu1369Val)
c.3787C>G (p.Leu1263Val)
c.4090C>G (p.Leu1364Val)
c.4087C>G (p.Leu1363Val)
c.3796C>G (p.Leu1266Val)
dbSNP gnomAD v3 gnomAD v4
3g.38712169G=CA1358635293SCN10Ac.4081C= (p.Leu1361=)
c.4078C= (p.Leu1360=)
c.4105C= (p.Leu1369=)
c.3787C= (p.Leu1263=)
c.4090C= (p.Leu1364=)
c.4087C= (p.Leu1363=)
c.3796C= (p.Leu1266=)
3g.38712169G>TCA352150472SCN10Ac.4081C>A (p.Leu1361Met)
c.4078C>A (p.Leu1360Met)
c.4105C>A (p.Leu1369Met)
c.3787C>A (p.Leu1263Met)
c.4090C>A (p.Leu1364Met)
c.4087C>A (p.Leu1363Met)
c.3796C>A (p.Leu1266Met)
3g.38712170A=CA1358635297SCN10Ac.4080T= (p.Leu1360=)
c.4077T= (p.Leu1359=)
c.4104T= (p.Leu1368=)
c.3786T= (p.Leu1262=)
c.4089T= (p.Leu1363=)
c.4086T= (p.Leu1362=)
c.3795T= (p.Leu1265=)
3g.38712170A>CCA433137014SCN10Ac.4080T>G (p.Leu1360=)
c.4077T>G (p.Leu1359=)
c.4104T>G (p.Leu1368=)
c.3786T>G (p.Leu1262=)
c.4089T>G (p.Leu1363=)
c.4086T>G (p.Leu1362=)
c.3795T>G (p.Leu1265=)
3g.38712170A>GCA433137015SCN10Ac.4080T>C (p.Leu1360=)
c.4077T>C (p.Leu1359=)
c.4104T>C (p.Leu1368=)
c.3786T>C (p.Leu1262=)
c.4089T>C (p.Leu1363=)
c.4086T>C (p.Leu1362=)
c.3795T>C (p.Leu1265=)
dbSNP gnomAD v4
3g.38712170A>TCA433137018SCN10Ac.4080T>A (p.Leu1360=)
c.4077T>A (p.Leu1359=)
c.4104T>A (p.Leu1368=)
c.3786T>A (p.Leu1262=)
c.4089T>A (p.Leu1363=)
c.4086T>A (p.Leu1362=)
c.3795T>A (p.Leu1265=)
3g.38712171A>CCA352150474SCN10Ac.4079T>G (p.Leu1360Arg)
c.4076T>G (p.Leu1359Arg)
c.4103T>G (p.Leu1368Arg)
c.3785T>G (p.Leu1262Arg)
c.4088T>G (p.Leu1363Arg)
c.4085T>G (p.Leu1362Arg)
c.3794T>G (p.Leu1265Arg)
3g.38712171A>GCA352150476SCN10Ac.4079T>C (p.Leu1360Pro)
c.4076T>C (p.Leu1359Pro)
c.4103T>C (p.Leu1368Pro)
c.3785T>C (p.Leu1262Pro)
c.4088T>C (p.Leu1363Pro)
c.4085T>C (p.Leu1362Pro)
c.3794T>C (p.Leu1265Pro)
3g.38712171A>TCA352150478SCN10Ac.4079T>A (p.Leu1360His)
c.4076T>A (p.Leu1359His)
c.4103T>A (p.Leu1368His)
c.3785T>A (p.Leu1262His)
c.4088T>A (p.Leu1363His)
c.4085T>A (p.Leu1362His)
c.3794T>A (p.Leu1265His)
3g.38712172G>ACA352150480SCN10Ac.4078C>T (p.Leu1360Phe)
c.4075C>T (p.Leu1359Phe)
c.4102C>T (p.Leu1368Phe)
c.3784C>T (p.Leu1262Phe)
c.4087C>T (p.Leu1363Phe)
c.4084C>T (p.Leu1362Phe)
c.3793C>T (p.Leu1265Phe)
gnomAD v4
3g.38712172G>CCA352150482SCN10Ac.4078C>G (p.Leu1360Val)
c.4075C>G (p.Leu1359Val)
c.4102C>G (p.Leu1368Val)
c.3784C>G (p.Leu1262Val)
c.4087C>G (p.Leu1363Val)
c.4084C>G (p.Leu1362Val)
c.3793C>G (p.Leu1265Val)
3g.38712172G>TCA352150483SCN10Ac.4078C>A (p.Leu1360Ile)
c.4075C>A (p.Leu1359Ile)
c.4102C>A (p.Leu1368Ile)
c.3784C>A (p.Leu1262Ile)
c.4087C>A (p.Leu1363Ile)
c.4084C>A (p.Leu1362Ile)
c.3793C>A (p.Leu1265Ile)
3g.38712173T>ACA433137020SCN10Ac.4077A>T (p.Ala1359=)
c.4074A>T (p.Ala1358=)
c.4101A>T (p.Ala1367=)
c.3783A>T (p.Ala1261=)
c.4086A>T (p.Ala1362=)
c.4083A>T (p.Ala1361=)
c.3792A>T (p.Ala1264=)
3g.38712173T>CCA433137021SCN10Ac.4077A>G (p.Ala1359=)
c.4074A>G (p.Ala1358=)
c.4101A>G (p.Ala1367=)
c.3783A>G (p.Ala1261=)
c.4086A>G (p.Ala1362=)
c.4083A>G (p.Ala1361=)
c.3792A>G (p.Ala1264=)
3g.38712173T>GCA2320040SCN10Ac.4077A>C (p.Ala1359=)
c.4074A>C (p.Ala1358=)
c.4101A>C (p.Ala1367=)
c.3783A>C (p.Ala1261=)
c.4086A>C (p.Ala1362=)
c.4083A>C (p.Ala1361=)
c.3792A>C (p.Ala1264=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712173T=CA1358635300SCN10Ac.4077A= (p.Ala1359=)
c.4074A= (p.Ala1358=)
c.4101A= (p.Ala1367=)
c.3783A= (p.Ala1261=)
c.4086A= (p.Ala1362=)
c.4083A= (p.Ala1361=)
c.3792A= (p.Ala1264=)
3g.38712178_38712192delCA2665099183SCN10Ac.4063_4077del (p.Met1355_Ala1359del)
c.4060_4074del (p.Met1354_Ala1358del)
c.4087_4101del (p.Met1363_Ala1367del)
c.3769_3783del (p.Met1257_Ala1261del)
c.4072_4086del (p.Met1358_Ala1362del)
c.4069_4083del (p.Met1357_Ala1361del)
c.3778_3792del (p.Met1260_Ala1264del)
gnomAD v4
3g.38712174G>ACA352150491SCN10Ac.4076C>T (p.Ala1359Val)
c.4073C>T (p.Ala1358Val)
c.4100C>T (p.Ala1367Val)
c.3782C>T (p.Ala1261Val)
c.4085C>T (p.Ala1362Val)
c.4082C>T (p.Ala1361Val)
c.3791C>T (p.Ala1264Val)
ClinVar gnomAD v4
3g.38712174G>CCA352150489SCN10Ac.4076C>G (p.Ala1359Gly)
c.4073C>G (p.Ala1358Gly)
c.4100C>G (p.Ala1367Gly)
c.3782C>G (p.Ala1261Gly)
c.4085C>G (p.Ala1362Gly)
c.4082C>G (p.Ala1361Gly)
c.3791C>G (p.Ala1264Gly)
3g.38712174G>TCA352150492SCN10Ac.4076C>A (p.Ala1359Glu)
c.4073C>A (p.Ala1358Glu)
c.4100C>A (p.Ala1367Glu)
c.3782C>A (p.Ala1261Glu)
c.4085C>A (p.Ala1362Glu)
c.4082C>A (p.Ala1361Glu)
c.3791C>A (p.Ala1264Glu)
3g.38712175C>ACA352150495SCN10Ac.4075G>T (p.Ala1359Ser)
c.4072G>T (p.Ala1358Ser)
c.4099G>T (p.Ala1367Ser)
c.3781G>T (p.Ala1261Ser)
c.4084G>T (p.Ala1362Ser)
c.4081G>T (p.Ala1361Ser)
c.3790G>T (p.Ala1264Ser)
3g.38712175C=CA1358635304SCN10Ac.4075G= (p.Ala1359=)
c.4072G= (p.Ala1358=)
c.4099G= (p.Ala1367=)
c.3781G= (p.Ala1261=)
c.4084G= (p.Ala1362=)
c.4081G= (p.Ala1361=)
c.3790G= (p.Ala1264=)
3g.38712175C>GCA352150497SCN10Ac.4075G>C (p.Ala1359Pro)
c.4072G>C (p.Ala1358Pro)
c.4099G>C (p.Ala1367Pro)
c.3781G>C (p.Ala1261Pro)
c.4084G>C (p.Ala1362Pro)
c.4081G>C (p.Ala1361Pro)
c.3790G>C (p.Ala1264Pro)
3g.38712175C>TCA352150498SCN10Ac.4075G>A (p.Ala1359Thr)
c.4072G>A (p.Ala1358Thr)
c.4099G>A (p.Ala1367Thr)
c.3781G>A (p.Ala1261Thr)
c.4084G>A (p.Ala1362Thr)
c.4081G>A (p.Ala1361Thr)
c.3790G>A (p.Ala1264Thr)
dbSNP gnomAD v2 gnomAD v4
3g.38712176A=CA1358635306SCN10Ac.4074T= (p.Leu1358=)
c.4071T= (p.Leu1357=)
c.4098T= (p.Leu1366=)
c.3780T= (p.Leu1260=)
c.4083T= (p.Leu1361=)
c.4080T= (p.Leu1360=)
c.3789T= (p.Leu1263=)
3g.38712176A>CCA433137029SCN10Ac.4074T>G (p.Leu1358=)
c.4071T>G (p.Leu1357=)
c.4098T>G (p.Leu1366=)
c.3780T>G (p.Leu1260=)
c.4083T>G (p.Leu1361=)
c.4080T>G (p.Leu1360=)
c.3789T>G (p.Leu1263=)
3g.38712176A>GCA433137030SCN10Ac.4074T>C (p.Leu1358=)
c.4071T>C (p.Leu1357=)
c.4098T>C (p.Leu1366=)
c.3780T>C (p.Leu1260=)
c.4083T>C (p.Leu1361=)
c.4080T>C (p.Leu1360=)
c.3789T>C (p.Leu1263=)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38712176A>TCA433137028SCN10Ac.4074T>A (p.Leu1358=)
c.4071T>A (p.Leu1357=)
c.4098T>A (p.Leu1366=)
c.3780T>A (p.Leu1260=)
c.4083T>A (p.Leu1361=)
c.4080T>A (p.Leu1360=)
c.3789T>A (p.Leu1263=)
3g.38712177A>CCA352150500SCN10Ac.4073T>G (p.Leu1358Arg)
c.4070T>G (p.Leu1357Arg)
c.4097T>G (p.Leu1366Arg)
c.3779T>G (p.Leu1260Arg)
c.4082T>G (p.Leu1361Arg)
c.4079T>G (p.Leu1360Arg)
c.3788T>G (p.Leu1263Arg)
3g.38712177A>GCA352150502SCN10Ac.4073T>C (p.Leu1358Pro)
c.4070T>C (p.Leu1357Pro)
c.4097T>C (p.Leu1366Pro)
c.3779T>C (p.Leu1260Pro)
c.4082T>C (p.Leu1361Pro)
c.4079T>C (p.Leu1360Pro)
c.3788T>C (p.Leu1263Pro)
3g.38712177A>TCA352150503SCN10Ac.4073T>A (p.Leu1358His)
c.4070T>A (p.Leu1357His)
c.4097T>A (p.Leu1366His)
c.3779T>A (p.Leu1260His)
c.4082T>A (p.Leu1361His)
c.4079T>A (p.Leu1360His)
c.3788T>A (p.Leu1263His)
3g.38712178G>ACA2320041SCN10Ac.4072C>T (p.Leu1358Phe)
c.4069C>T (p.Leu1357Phe)
c.4096C>T (p.Leu1366Phe)
c.3778C>T (p.Leu1260Phe)
c.4081C>T (p.Leu1361Phe)
c.4078C>T (p.Leu1360Phe)
c.3787C>T (p.Leu1263Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712178G>CCA352150506SCN10Ac.4072C>G (p.Leu1358Val)
c.4069C>G (p.Leu1357Val)
c.4096C>G (p.Leu1366Val)
c.3778C>G (p.Leu1260Val)
c.4081C>G (p.Leu1361Val)
c.4078C>G (p.Leu1360Val)
c.3787C>G (p.Leu1263Val)
3g.38712178G=CA1358635308SCN10Ac.4072C= (p.Leu1358=)
c.4069C= (p.Leu1357=)
c.4096C= (p.Leu1366=)
c.3778C= (p.Leu1260=)
c.4081C= (p.Leu1361=)
c.4078C= (p.Leu1360=)
c.3787C= (p.Leu1263=)
3g.38712178G>TCA352150507SCN10Ac.4072C>A (p.Leu1358Ile)
c.4069C>A (p.Leu1357Ile)
c.4096C>A (p.Leu1366Ile)
c.3778C>A (p.Leu1260Ile)
c.4081C>A (p.Leu1361Ile)
c.4078C>A (p.Leu1360Ile)
c.3787C>A (p.Leu1263Ile)
3g.38712179G>ACA433137034SCN10Ac.4071C>T (p.Tyr1357=)
c.4068C>T (p.Tyr1356=)
c.4095C>T (p.Tyr1365=)
c.3777C>T (p.Tyr1259=)
c.4080C>T (p.Tyr1360=)
c.4077C>T (p.Tyr1359=)
c.3786C>T (p.Tyr1262=)
COSMIC
3g.38712179G>CCA352150509SCN10Ac.4071C>G (p.Tyr1357Ter)
c.4068C>G (p.Tyr1356Ter)
c.4095C>G (p.Tyr1365Ter)
c.3777C>G (p.Tyr1259Ter)
c.4080C>G (p.Tyr1360Ter)
c.4077C>G (p.Tyr1359Ter)
c.3786C>G (p.Tyr1262Ter)
3g.38712179G>TCA352150511SCN10Ac.4071C>A (p.Tyr1357Ter)
c.4068C>A (p.Tyr1356Ter)
c.4095C>A (p.Tyr1365Ter)
c.3777C>A (p.Tyr1259Ter)
c.4080C>A (p.Tyr1360Ter)
c.4077C>A (p.Tyr1359Ter)
c.3786C>A (p.Tyr1262Ter)
3g.38712180T>ACA352150517SCN10Ac.4070A>T (p.Tyr1357Phe)
c.4067A>T (p.Tyr1356Phe)
c.4094A>T (p.Tyr1365Phe)
c.3776A>T (p.Tyr1259Phe)
c.4079A>T (p.Tyr1360Phe)
c.4076A>T (p.Tyr1359Phe)
c.3785A>T (p.Tyr1262Phe)
3g.38712180T>CCA352150515SCN10Ac.4070A>G (p.Tyr1357Cys)
c.4067A>G (p.Tyr1356Cys)
c.4094A>G (p.Tyr1365Cys)
c.3776A>G (p.Tyr1259Cys)
c.4079A>G (p.Tyr1360Cys)
c.4076A>G (p.Tyr1359Cys)
c.3785A>G (p.Tyr1262Cys)
dbSNP gnomAD v4
3g.38712180T>GCA352150513SCN10Ac.4070A>C (p.Tyr1357Ser)
c.4067A>C (p.Tyr1356Ser)
c.4094A>C (p.Tyr1365Ser)
c.3776A>C (p.Tyr1259Ser)
c.4079A>C (p.Tyr1360Ser)
c.4076A>C (p.Tyr1359Ser)
c.3785A>C (p.Tyr1262Ser)
dbSNP gnomAD v4
3g.38712180T=CA1358635310SCN10Ac.4070A= (p.Tyr1357=)
c.4067A= (p.Tyr1356=)
c.4094A= (p.Tyr1365=)
c.3776A= (p.Tyr1259=)
c.4079A= (p.Tyr1360=)
c.4076A= (p.Tyr1359=)
c.3785A= (p.Tyr1262=)
3g.38712181A=CA1358635314SCN10Ac.4069T= (p.Tyr1357=)
c.4066T= (p.Tyr1356=)
c.4093T= (p.Tyr1365=)
c.3775T= (p.Tyr1259=)
c.4078T= (p.Tyr1360=)
c.4075T= (p.Tyr1359=)
c.3784T= (p.Tyr1262=)
3g.38712181A>CCA352150519SCN10Ac.4069T>G (p.Tyr1357Asp)
c.4066T>G (p.Tyr1356Asp)
c.4093T>G (p.Tyr1365Asp)
c.3775T>G (p.Tyr1259Asp)
c.4078T>G (p.Tyr1360Asp)
c.4075T>G (p.Tyr1359Asp)
c.3784T>G (p.Tyr1262Asp)
3g.38712181A>GCA352150521SCN10Ac.4069T>C (p.Tyr1357His)
c.4066T>C (p.Tyr1356His)
c.4093T>C (p.Tyr1365His)
c.3775T>C (p.Tyr1259His)
c.4078T>C (p.Tyr1360His)
c.4075T>C (p.Tyr1359His)
c.3784T>C (p.Tyr1262His)
3g.38712181A>TCA2320042SCN10Ac.4069T>A (p.Tyr1357Asn)
c.4066T>A (p.Tyr1356Asn)
c.4093T>A (p.Tyr1365Asn)
c.3775T>A (p.Tyr1259Asn)
c.4078T>A (p.Tyr1360Asn)
c.4075T>A (p.Tyr1359Asn)
c.3784T>A (p.Tyr1262Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712182A>CCA433137040SCN10Ac.4068T>G (p.Gly1356=)
c.4065T>G (p.Gly1355=)
c.4092T>G (p.Gly1364=)
c.3774T>G (p.Gly1258=)
c.4077T>G (p.Gly1359=)
c.4074T>G (p.Gly1358=)
c.3783T>G (p.Gly1261=)
3g.38712182A>GCA433137041SCN10Ac.4068T>C (p.Gly1356=)
c.4065T>C (p.Gly1355=)
c.4092T>C (p.Gly1364=)
c.3774T>C (p.Gly1258=)
c.4077T>C (p.Gly1359=)
c.4074T>C (p.Gly1358=)
c.3783T>C (p.Gly1261=)
COSMIC
3g.38712182A>TCA433137038SCN10Ac.4068T>A (p.Gly1356=)
c.4065T>A (p.Gly1355=)
c.4092T>A (p.Gly1364=)
c.3774T>A (p.Gly1258=)
c.4077T>A (p.Gly1359=)
c.4074T>A (p.Gly1358=)
c.3783T>A (p.Gly1261=)
3g.38712183C>ACA352150525SCN10Ac.4067G>T (p.Gly1356Val)
c.4064G>T (p.Gly1355Val)
c.4091G>T (p.Gly1364Val)
c.3773G>T (p.Gly1258Val)
c.4076G>T (p.Gly1359Val)
c.4073G>T (p.Gly1358Val)
c.3782G>T (p.Gly1261Val)
3g.38712183C>GCA352150527SCN10Ac.4067G>C (p.Gly1356Ala)
c.4064G>C (p.Gly1355Ala)
c.4091G>C (p.Gly1364Ala)
c.3773G>C (p.Gly1258Ala)
c.4076G>C (p.Gly1359Ala)
c.4073G>C (p.Gly1358Ala)
c.3782G>C (p.Gly1261Ala)
3g.38712183C>TCA352150529SCN10Ac.4067G>A (p.Gly1356Asp)
c.4064G>A (p.Gly1355Asp)
c.4091G>A (p.Gly1364Asp)
c.3773G>A (p.Gly1258Asp)
c.4076G>A (p.Gly1359Asp)
c.4073G>A (p.Gly1358Asp)
c.3782G>A (p.Gly1261Asp)
gnomAD v4
3g.38712184C>ACA2320043SCN10Ac.4066G>T (p.Gly1356Cys)
c.4063G>T (p.Gly1355Cys)
c.4090G>T (p.Gly1364Cys)
c.3772G>T (p.Gly1258Cys)
c.4075G>T (p.Gly1359Cys)
c.4072G>T (p.Gly1358Cys)
c.3781G>T (p.Gly1261Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712184C=CA1358635317SCN10Ac.4066G= (p.Gly1356=)
c.4063G= (p.Gly1355=)
c.4090G= (p.Gly1364=)
c.3772G= (p.Gly1258=)
c.4075G= (p.Gly1359=)
c.4072G= (p.Gly1358=)
c.3781G= (p.Gly1261=)
3g.38712184C>GCA352150532SCN10Ac.4066G>C (p.Gly1356Arg)
c.4063G>C (p.Gly1355Arg)
c.4090G>C (p.Gly1364Arg)
c.3772G>C (p.Gly1258Arg)
c.4075G>C (p.Gly1359Arg)
c.4072G>C (p.Gly1358Arg)
c.3781G>C (p.Gly1261Arg)
3g.38712184C>TCA352150534SCN10Ac.4066G>A (p.Gly1356Ser)
c.4063G>A (p.Gly1355Ser)
c.4090G>A (p.Gly1364Ser)
c.3772G>A (p.Gly1258Ser)
c.4075G>A (p.Gly1359Ser)
c.4072G>A (p.Gly1358Ser)
c.3781G>A (p.Gly1261Ser)
3g.38712185C>ACA352150536SCN10Ac.4065G>T (p.Met1355Ile)
c.4062G>T (p.Met1354Ile)
c.4089G>T (p.Met1363Ile)
c.3771G>T (p.Met1257Ile)
c.4074G>T (p.Met1358Ile)
c.4071G>T (p.Met1357Ile)
c.3780G>T (p.Met1260Ile)
3g.38712185C>GCA352150539SCN10Ac.4065G>C (p.Met1355Ile)
c.4062G>C (p.Met1354Ile)
c.4089G>C (p.Met1363Ile)
c.3771G>C (p.Met1257Ile)
c.4074G>C (p.Met1358Ile)
c.4071G>C (p.Met1357Ile)
c.3780G>C (p.Met1260Ile)
3g.38712185C>TCA352150541SCN10Ac.4065G>A (p.Met1355Ile)
c.4062G>A (p.Met1354Ile)
c.4089G>A (p.Met1363Ile)
c.3771G>A (p.Met1257Ile)
c.4074G>A (p.Met1358Ile)
c.4071G>A (p.Met1357Ile)
c.3780G>A (p.Met1260Ile)
3g.38712186A>CCA352150547SCN10Ac.4064T>G (p.Met1355Arg)
c.4061T>G (p.Met1354Arg)
c.4088T>G (p.Met1363Arg)
c.3770T>G (p.Met1257Arg)
c.4073T>G (p.Met1358Arg)
c.4070T>G (p.Met1357Arg)
c.3779T>G (p.Met1260Arg)
3g.38712186A>GCA352150545SCN10Ac.4064T>C (p.Met1355Thr)
c.4061T>C (p.Met1354Thr)
c.4088T>C (p.Met1363Thr)
c.3770T>C (p.Met1257Thr)
c.4073T>C (p.Met1358Thr)
c.4070T>C (p.Met1357Thr)
c.3779T>C (p.Met1260Thr)
3g.38712186A>TCA352150544SCN10Ac.4064T>A (p.Met1355Lys)
c.4061T>A (p.Met1354Lys)
c.4088T>A (p.Met1363Lys)
c.3770T>A (p.Met1257Lys)
c.4073T>A (p.Met1358Lys)
c.4070T>A (p.Met1357Lys)
c.3779T>A (p.Met1260Lys)
gnomAD v4
3g.38712187T>ACA352150549SCN10Ac.4063A>T (p.Met1355Leu)
c.4060A>T (p.Met1354Leu)
c.4087A>T (p.Met1363Leu)
c.3769A>T (p.Met1257Leu)
c.4072A>T (p.Met1358Leu)
c.4069A>T (p.Met1357Leu)
c.3778A>T (p.Met1260Leu)
3g.38712187T>CCA2320044SCN10Ac.4063A>G (p.Met1355Val)
c.4060A>G (p.Met1354Val)
c.4087A>G (p.Met1363Val)
c.3769A>G (p.Met1257Val)
c.4072A>G (p.Met1358Val)
c.4069A>G (p.Met1357Val)
c.3778A>G (p.Met1260Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712187T>GCA352150551SCN10Ac.4063A>C (p.Met1355Leu)
c.4060A>C (p.Met1354Leu)
c.4087A>C (p.Met1363Leu)
c.3769A>C (p.Met1257Leu)
c.4072A>C (p.Met1358Leu)
c.4069A>C (p.Met1357Leu)
c.3778A>C (p.Met1260Leu)
3g.38712187T=CA1358635322SCN10Ac.4063A= (p.Met1355=)
c.4060A= (p.Met1354=)
c.4087A= (p.Met1363=)
c.3769A= (p.Met1257=)
c.4072A= (p.Met1358=)
c.4069A= (p.Met1357=)
c.3778A= (p.Met1260=)
3g.38712187_38712188delCA2665099246SCN10Ac.4062_4063del (p.Met1355GlyfsTer12)
c.4059_4060del (p.Met1354GlyfsTer12)
c.4086_4087del (p.Met1363GlyfsTer12)
c.3768_3769del (p.Met1257GlyfsTer12)
c.4071_4072del (p.Met1358GlyfsTer12)
c.4068_4069del (p.Met1357GlyfsTer12)
c.3777_3778del (p.Met1260GlyfsTer12)
gnomAD v4
3g.38712188T>ACA433137049SCN10Ac.4062A>T (p.Ala1354=)
c.4059A>T (p.Ala1353=)
c.4086A>T (p.Ala1362=)
c.3768A>T (p.Ala1256=)
c.4071A>T (p.Ala1357=)
c.4068A>T (p.Ala1356=)
c.3777A>T (p.Ala1259=)
3g.38712188T>CCA2320045SCN10Ac.4062A>G (p.Ala1354=)
c.4059A>G (p.Ala1353=)
c.4086A>G (p.Ala1362=)
c.3768A>G (p.Ala1256=)
c.4071A>G (p.Ala1357=)
c.4068A>G (p.Ala1356=)
c.3777A>G (p.Ala1259=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712188T>GCA433137047SCN10Ac.4062A>C (p.Ala1354=)
c.4059A>C (p.Ala1353=)
c.4086A>C (p.Ala1362=)
c.3768A>C (p.Ala1256=)
c.4071A>C (p.Ala1357=)
c.4068A>C (p.Ala1356=)
c.3777A>C (p.Ala1259=)
3g.38712188T=CA1358635326SCN10Ac.4062A= (p.Ala1354=)
c.4059A= (p.Ala1353=)
c.4086A= (p.Ala1362=)
c.3768A= (p.Ala1256=)
c.4071A= (p.Ala1357=)
c.4068A= (p.Ala1356=)
c.3777A= (p.Ala1259=)
3g.38712189G>ACA352150556SCN10Ac.4061C>T (p.Ala1354Val)
c.4058C>T (p.Ala1353Val)
c.4085C>T (p.Ala1362Val)
c.3767C>T (p.Ala1256Val)
c.4070C>T (p.Ala1357Val)
c.4067C>T (p.Ala1356Val)
c.3776C>T (p.Ala1259Val)
dbSNP
3g.38712189G>CCA352150557SCN10Ac.4061C>G (p.Ala1354Gly)
c.4058C>G (p.Ala1353Gly)
c.4085C>G (p.Ala1362Gly)
c.3767C>G (p.Ala1256Gly)
c.4070C>G (p.Ala1357Gly)
c.4067C>G (p.Ala1356Gly)
c.3776C>G (p.Ala1259Gly)
3g.38712189G=CA1358635329SCN10Ac.4061C= (p.Ala1354=)
c.4058C= (p.Ala1353=)
c.4085C= (p.Ala1362=)
c.3767C= (p.Ala1256=)
c.4070C= (p.Ala1357=)
c.4067C= (p.Ala1356=)
c.3776C= (p.Ala1259=)
3g.38712189G>TCA352150558SCN10Ac.4061C>A (p.Ala1354Glu)
c.4058C>A (p.Ala1353Glu)
c.4085C>A (p.Ala1362Glu)
c.3767C>A (p.Ala1256Glu)
c.4070C>A (p.Ala1357Glu)
c.4067C>A (p.Ala1356Glu)
c.3776C>A (p.Ala1259Glu)
3g.38712190C>ACA352150561SCN10Ac.4060G>T (p.Ala1354Ser)
c.4057G>T (p.Ala1353Ser)
c.4084G>T (p.Ala1362Ser)
c.3766G>T (p.Ala1256Ser)
c.4069G>T (p.Ala1357Ser)
c.4066G>T (p.Ala1356Ser)
c.3775G>T (p.Ala1259Ser)
3g.38712190C>GCA352150562SCN10Ac.4060G>C (p.Ala1354Pro)
c.4057G>C (p.Ala1353Pro)
c.4084G>C (p.Ala1362Pro)
c.3766G>C (p.Ala1256Pro)
c.4069G>C (p.Ala1357Pro)
c.4066G>C (p.Ala1356Pro)
c.3775G>C (p.Ala1259Pro)
3g.38712190C>TCA352150564SCN10Ac.4060G>A (p.Ala1354Thr)
c.4057G>A (p.Ala1353Thr)
c.4084G>A (p.Ala1362Thr)
c.3766G>A (p.Ala1256Thr)
c.4069G>A (p.Ala1357Thr)
c.4066G>A (p.Ala1356Thr)
c.3775G>A (p.Ala1259Thr)
gnomAD v4
3g.38712191A>CCA433137051SCN10Ac.4059T>G (p.Val1353=)
c.4056T>G (p.Val1352=)
c.4083T>G (p.Val1361=)
c.3765T>G (p.Val1255=)
c.4068T>G (p.Val1356=)
c.4065T>G (p.Val1355=)
c.3774T>G (p.Val1258=)
3g.38712191A>GCA433137052SCN10Ac.4059T>C (p.Val1353=)
c.4056T>C (p.Val1352=)
c.4083T>C (p.Val1361=)
c.3765T>C (p.Val1255=)
c.4068T>C (p.Val1356=)
c.4065T>C (p.Val1355=)
c.3774T>C (p.Val1258=)
gnomAD v4
3g.38712191A>TCA433137053SCN10Ac.4059T>A (p.Val1353=)
c.4056T>A (p.Val1352=)
c.4083T>A (p.Val1361=)
c.3765T>A (p.Val1255=)
c.4068T>A (p.Val1356=)
c.4065T>A (p.Val1355=)
c.3774T>A (p.Val1258=)
3g.38712192A>CCA352150566SCN10Ac.4058T>G (p.Val1353Gly)
c.4055T>G (p.Val1352Gly)
c.4082T>G (p.Val1361Gly)
c.3764T>G (p.Val1255Gly)
c.4067T>G (p.Val1356Gly)
c.4064T>G (p.Val1355Gly)
c.3773T>G (p.Val1258Gly)
3g.38712192A>GCA352150569SCN10Ac.4058T>C (p.Val1353Ala)
c.4055T>C (p.Val1352Ala)
c.4082T>C (p.Val1361Ala)
c.3764T>C (p.Val1255Ala)
c.4067T>C (p.Val1356Ala)
c.4064T>C (p.Val1355Ala)
c.3773T>C (p.Val1258Ala)
3g.38712192A>TCA352150571SCN10Ac.4058T>A (p.Val1353Asp)
c.4055T>A (p.Val1352Asp)
c.4082T>A (p.Val1361Asp)
c.3764T>A (p.Val1255Asp)
c.4067T>A (p.Val1356Asp)
c.4064T>A (p.Val1355Asp)
c.3773T>A (p.Val1258Asp)
3g.38712193C>ACA352150575SCN10Ac.4057G>T (p.Val1353Phe)
c.4054G>T (p.Val1352Phe)
c.4081G>T (p.Val1361Phe)
c.3763G>T (p.Val1255Phe)
c.4066G>T (p.Val1356Phe)
c.4063G>T (p.Val1355Phe)
c.3772G>T (p.Val1258Phe)
3g.38712193C=CA1358635332SCN10Ac.4057G= (p.Val1353=)
c.4054G= (p.Val1352=)
c.4081G= (p.Val1361=)
c.3763G= (p.Val1255=)
c.4066G= (p.Val1356=)
c.4063G= (p.Val1355=)
c.3772G= (p.Val1258=)
3g.38712193C>GCA352150573SCN10Ac.4057G>C (p.Val1353Leu)
c.4054G>C (p.Val1352Leu)
c.4081G>C (p.Val1361Leu)
c.3763G>C (p.Val1255Leu)
c.4066G>C (p.Val1356Leu)
c.4063G>C (p.Val1355Leu)
c.3772G>C (p.Val1258Leu)
3g.38712193C>TCA2320046SCN10Ac.4057G>A (p.Val1353Ile)
c.4054G>A (p.Val1352Ile)
c.4081G>A (p.Val1361Ile)
c.3763G>A (p.Val1255Ile)
c.4066G>A (p.Val1356Ile)
c.4063G>A (p.Val1355Ile)
c.3772G>A (p.Val1258Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712194A>CCA352150578SCN10Ac.4056T>G (p.Asn1352Lys)
c.4053T>G (p.Asn1351Lys)
c.4080T>G (p.Asn1360Lys)
c.3762T>G (p.Asn1254Lys)
c.4065T>G (p.Asn1355Lys)
c.4062T>G (p.Asn1354Lys)
c.3771T>G (p.Asn1257Lys)
3g.38712194A>GCA433137060SCN10Ac.4056T>C (p.Asn1352=)
c.4053T>C (p.Asn1351=)
c.4080T>C (p.Asn1360=)
c.3762T>C (p.Asn1254=)
c.4065T>C (p.Asn1355=)
c.4062T>C (p.Asn1354=)
c.3771T>C (p.Asn1257=)
3g.38712194A>TCA352150580SCN10Ac.4056T>A (p.Asn1352Lys)
c.4053T>A (p.Asn1351Lys)
c.4080T>A (p.Asn1360Lys)
c.3762T>A (p.Asn1254Lys)
c.4065T>A (p.Asn1355Lys)
c.4062T>A (p.Asn1354Lys)
c.3771T>A (p.Asn1257Lys)
3g.38712194_38712195delinsATCA1358635336SCN10Ac.4055_4056delinsAT (p.Asn1352=)
c.4052_4053delinsAT (p.Asn1351=)
c.4079_4080delinsAT (p.Asn1360=)
c.3761_3762delinsAT (p.Asn1254=)
c.4064_4065delinsAT (p.Asn1355=)
c.4061_4062delinsAT (p.Asn1354=)
c.3770_3771delinsAT (p.Asn1257=)
3g.38712194_38712205delinsATTATCAAAGTTCA1358635335SCN10Ac.4045_4056delinsAACTTTGATAAT (p.Asn1349=)
c.4042_4053delinsAACTTTGATAAT (p.Asn1348=)
c.4069_4080delinsAACTTTGATAAT (p.Asn1357=)
c.3751_3762delinsAACTTTGATAAT (p.Asn1251=)
c.4054_4065delinsAACTTTGATAAT (p.Asn1352=)
c.4051_4062delinsAACTTTGATAAT (p.Asn1351=)
c.3760_3771delinsAACTTTGATAAT (p.Asn1254=)
3g.38712195T>ACA352150582SCN10Ac.4055A>T (p.Asn1352Ile)
c.4052A>T (p.Asn1351Ile)
c.4079A>T (p.Asn1360Ile)
c.3761A>T (p.Asn1254Ile)
c.4064A>T (p.Asn1355Ile)
c.4061A>T (p.Asn1354Ile)
c.3770A>T (p.Asn1257Ile)
3g.38712195T>CCA352150585SCN10Ac.4055A>G (p.Asn1352Ser)
c.4052A>G (p.Asn1351Ser)
c.4079A>G (p.Asn1360Ser)
c.3761A>G (p.Asn1254Ser)
c.4064A>G (p.Asn1355Ser)
c.4061A>G (p.Asn1354Ser)
c.3770A>G (p.Asn1257Ser)
gnomAD v4
3g.38712195T>GCA352150586SCN10Ac.4055A>C (p.Asn1352Thr)
c.4052A>C (p.Asn1351Thr)
c.4079A>C (p.Asn1360Thr)
c.3761A>C (p.Asn1254Thr)
c.4064A>C (p.Asn1355Thr)
c.4061A>C (p.Asn1354Thr)
c.3770A>C (p.Asn1257Thr)
3g.38712196delCA915942364SCN10Ac.4055del (p.Asn1352MetfsTer?)
c.4052del (p.Asn1351MetfsTer?)
c.4079del (p.Asn1360MetfsTer?)
c.3761del (p.Asn1254MetfsTer?)
c.4064del (p.Asn1355MetfsTer?)
c.4061del (p.Asn1354MetfsTer?)
c.3770del (p.Asn1257MetfsTer?)
ClinVar dbSNP gnomAD v4
3g.38712195_38712205delCA2320047SCN10Ac.4045_4055del (p.Asn1349CysfsTer15)
c.4042_4052del (p.Asn1348CysfsTer15)
c.4069_4079del (p.Asn1357CysfsTer15)
c.3751_3761del (p.Asn1251CysfsTer15)
c.4054_4064del (p.Asn1352CysfsTer15)
c.4051_4061del (p.Asn1351CysfsTer15)
c.3760_3770del (p.Asn1254CysfsTer15)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712196T>ACA352150592SCN10Ac.4054A>T (p.Asn1352Tyr)
c.4051A>T (p.Asn1351Tyr)
c.4078A>T (p.Asn1360Tyr)
c.3760A>T (p.Asn1254Tyr)
c.4063A>T (p.Asn1355Tyr)
c.4060A>T (p.Asn1354Tyr)
c.3769A>T (p.Asn1257Tyr)
3g.38712196T>CCA352150594SCN10Ac.4054A>G (p.Asn1352Asp)
c.4051A>G (p.Asn1351Asp)
c.4078A>G (p.Asn1360Asp)
c.3760A>G (p.Asn1254Asp)
c.4063A>G (p.Asn1355Asp)
c.4060A>G (p.Asn1354Asp)
c.3769A>G (p.Asn1257Asp)
3g.38712196T>GCA352150596SCN10Ac.4054A>C (p.Asn1352His)
c.4051A>C (p.Asn1351His)
c.4078A>C (p.Asn1360His)
c.3760A>C (p.Asn1254His)
c.4063A>C (p.Asn1355His)
c.4060A>C (p.Asn1354His)
c.3769A>C (p.Asn1257His)
3g.38712197A=CA1358635344SCN10Ac.4053T= (p.Asp1351=)
c.4050T= (p.Asp1350=)
c.4077T= (p.Asp1359=)
c.3759T= (p.Asp1253=)
c.4062T= (p.Asp1354=)
c.4059T= (p.Asp1353=)
c.3768T= (p.Asp1256=)
3g.38712197A>CCA352150598SCN10Ac.4053T>G (p.Asp1351Glu)
c.4050T>G (p.Asp1350Glu)
c.4077T>G (p.Asp1359Glu)
c.3759T>G (p.Asp1253Glu)
c.4062T>G (p.Asp1354Glu)
c.4059T>G (p.Asp1353Glu)
c.3768T>G (p.Asp1256Glu)
3g.38712197A>GCA2320048SCN10Ac.4053T>C (p.Asp1351=)
c.4050T>C (p.Asp1350=)
c.4077T>C (p.Asp1359=)
c.3759T>C (p.Asp1253=)
c.4062T>C (p.Asp1354=)
c.4059T>C (p.Asp1353=)
c.3768T>C (p.Asp1256=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712197A>TCA352150600SCN10Ac.4053T>A (p.Asp1351Glu)
c.4050T>A (p.Asp1350Glu)
c.4077T>A (p.Asp1359Glu)
c.3759T>A (p.Asp1253Glu)
c.4062T>A (p.Asp1354Glu)
c.4059T>A (p.Asp1353Glu)
c.3768T>A (p.Asp1256Glu)
3g.38712198T>ACA352150605SCN10Ac.4052A>T (p.Asp1351Val)
c.4049A>T (p.Asp1350Val)
c.4076A>T (p.Asp1359Val)
c.3758A>T (p.Asp1253Val)
c.4061A>T (p.Asp1354Val)
c.4058A>T (p.Asp1353Val)
c.3767A>T (p.Asp1256Val)
3g.38712198T>CCA352150607SCN10Ac.4052A>G (p.Asp1351Gly)
c.4049A>G (p.Asp1350Gly)
c.4076A>G (p.Asp1359Gly)
c.3758A>G (p.Asp1253Gly)
c.4061A>G (p.Asp1354Gly)
c.4058A>G (p.Asp1353Gly)
c.3767A>G (p.Asp1256Gly)
3g.38712198T>GCA352150603SCN10Ac.4052A>C (p.Asp1351Ala)
c.4049A>C (p.Asp1350Ala)
c.4076A>C (p.Asp1359Ala)
c.3758A>C (p.Asp1253Ala)
c.4061A>C (p.Asp1354Ala)
c.4058A>C (p.Asp1353Ala)
c.3767A>C (p.Asp1256Ala)
3g.38712199C>ACA352150612SCN10Ac.4051G>T (p.Asp1351Tyr)
c.4048G>T (p.Asp1350Tyr)
c.4075G>T (p.Asp1359Tyr)
c.3757G>T (p.Asp1253Tyr)
c.4060G>T (p.Asp1354Tyr)
c.4057G>T (p.Asp1353Tyr)
c.3766G>T (p.Asp1256Tyr)
3g.38712199C>GCA352150610SCN10Ac.4051G>C (p.Asp1351His)
c.4048G>C (p.Asp1350His)
c.4075G>C (p.Asp1359His)
c.3757G>C (p.Asp1253His)
c.4060G>C (p.Asp1354His)
c.4057G>C (p.Asp1353His)
c.3766G>C (p.Asp1256His)
3g.38712199C>TCA352150615SCN10Ac.4051G>A (p.Asp1351Asn)
c.4048G>A (p.Asp1350Asn)
c.4075G>A (p.Asp1359Asn)
c.3757G>A (p.Asp1253Asn)
c.4060G>A (p.Asp1354Asn)
c.4057G>A (p.Asp1353Asn)
c.3766G>A (p.Asp1256Asn)
3g.38712200A>CCA352150617SCN10Ac.4050T>G (p.Phe1350Leu)
c.4047T>G (p.Phe1349Leu)
c.4074T>G (p.Phe1358Leu)
c.3756T>G (p.Phe1252Leu)
c.4059T>G (p.Phe1353Leu)
c.4056T>G (p.Phe1352Leu)
c.3765T>G (p.Phe1255Leu)
3g.38712200A>GCA433333783SCN10Ac.4050T>C (p.Phe1350=)
c.4047T>C (p.Phe1349=)
c.4074T>C (p.Phe1358=)
c.3756T>C (p.Phe1252=)
c.4059T>C (p.Phe1353=)
c.4056T>C (p.Phe1352=)
c.3765T>C (p.Phe1255=)
3g.38712200A>TCA352150618SCN10Ac.4050T>A (p.Phe1350Leu)
c.4047T>A (p.Phe1349Leu)
c.4074T>A (p.Phe1358Leu)
c.3756T>A (p.Phe1252Leu)
c.4059T>A (p.Phe1353Leu)
c.4056T>A (p.Phe1352Leu)
c.3765T>A (p.Phe1255Leu)
3g.38712201A>CCA352150620SCN10Ac.4049T>G (p.Phe1350Cys)
c.4046T>G (p.Phe1349Cys)
c.4073T>G (p.Phe1358Cys)
c.3755T>G (p.Phe1252Cys)
c.4058T>G (p.Phe1353Cys)
c.4055T>G (p.Phe1352Cys)
c.3764T>G (p.Phe1255Cys)
3g.38712201A>GCA352150622SCN10Ac.4049T>C (p.Phe1350Ser)
c.4046T>C (p.Phe1349Ser)
c.4073T>C (p.Phe1358Ser)
c.3755T>C (p.Phe1252Ser)
c.4058T>C (p.Phe1353Ser)
c.4055T>C (p.Phe1352Ser)
c.3764T>C (p.Phe1255Ser)
3g.38712201A>TCA352150623SCN10Ac.4049T>A (p.Phe1350Tyr)
c.4046T>A (p.Phe1349Tyr)
c.4073T>A (p.Phe1358Tyr)
c.3755T>A (p.Phe1252Tyr)
c.4058T>A (p.Phe1353Tyr)
c.4055T>A (p.Phe1352Tyr)
c.3764T>A (p.Phe1255Tyr)
3g.38712202A=CA1358635345SCN10Ac.4048T= (p.Phe1350=)
c.4045T= (p.Phe1349=)
c.4072T= (p.Phe1358=)
c.3754T= (p.Phe1252=)
c.4057T= (p.Phe1353=)
c.4054T= (p.Phe1352=)
c.3763T= (p.Phe1255=)
3g.38712202A>CCA352150625SCN10Ac.4048T>G (p.Phe1350Val)
c.4045T>G (p.Phe1349Val)
c.4072T>G (p.Phe1358Val)
c.3754T>G (p.Phe1252Val)
c.4057T>G (p.Phe1353Val)
c.4054T>G (p.Phe1352Val)
c.3763T>G (p.Phe1255Val)
3g.38712202A>GCA2320049SCN10Ac.4048T>C (p.Phe1350Leu)
c.4045T>C (p.Phe1349Leu)
c.4072T>C (p.Phe1358Leu)
c.3754T>C (p.Phe1252Leu)
c.4057T>C (p.Phe1353Leu)
c.4054T>C (p.Phe1352Leu)
c.3763T>C (p.Phe1255Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712202A>TCA352150629SCN10Ac.4048T>A (p.Phe1350Ile)
c.4045T>A (p.Phe1349Ile)
c.4072T>A (p.Phe1358Ile)
c.3754T>A (p.Phe1252Ile)
c.4057T>A (p.Phe1353Ile)
c.4054T>A (p.Phe1352Ile)
c.3763T>A (p.Phe1255Ile)
gnomAD v4
3g.38712203G>ACA433333787SCN10Ac.4047C>T (p.Asn1349=)
c.4044C>T (p.Asn1348=)
c.4071C>T (p.Asn1357=)
c.3753C>T (p.Asn1251=)
c.4056C>T (p.Asn1352=)
c.4053C>T (p.Asn1351=)
c.3762C>T (p.Asn1254=)
3g.38712203G>CCA352150631SCN10Ac.4047C>G (p.Asn1349Lys)
c.4044C>G (p.Asn1348Lys)
c.4071C>G (p.Asn1357Lys)
c.3753C>G (p.Asn1251Lys)
c.4056C>G (p.Asn1352Lys)
c.4053C>G (p.Asn1351Lys)
c.3762C>G (p.Asn1254Lys)
3g.38712203G>TCA352150634SCN10Ac.4047C>A (p.Asn1349Lys)
c.4044C>A (p.Asn1348Lys)
c.4071C>A (p.Asn1357Lys)
c.3753C>A (p.Asn1251Lys)
c.4056C>A (p.Asn1352Lys)
c.4053C>A (p.Asn1351Lys)
c.3762C>A (p.Asn1254Lys)
3g.38712204T>ACA352150636SCN10Ac.4046A>T (p.Asn1349Ile)
c.4043A>T (p.Asn1348Ile)
c.4070A>T (p.Asn1357Ile)
c.3752A>T (p.Asn1251Ile)
c.4055A>T (p.Asn1352Ile)
c.4052A>T (p.Asn1351Ile)
c.3761A>T (p.Asn1254Ile)
3g.38712204T>CCA352150638SCN10Ac.4046A>G (p.Asn1349Ser)
c.4043A>G (p.Asn1348Ser)
c.4070A>G (p.Asn1357Ser)
c.3752A>G (p.Asn1251Ser)
c.4055A>G (p.Asn1352Ser)
c.4052A>G (p.Asn1351Ser)
c.3761A>G (p.Asn1254Ser)
dbSNP
3g.38712204T>GCA352150640SCN10Ac.4046A>C (p.Asn1349Thr)
c.4043A>C (p.Asn1348Thr)
c.4070A>C (p.Asn1357Thr)
c.3752A>C (p.Asn1251Thr)
c.4055A>C (p.Asn1352Thr)
c.4052A>C (p.Asn1351Thr)
c.3761A>C (p.Asn1254Thr)
3g.38712204T=CA1358635347SCN10Ac.4046A= (p.Asn1349=)
c.4043A= (p.Asn1348=)
c.4070A= (p.Asn1357=)
c.3752A= (p.Asn1251=)
c.4055A= (p.Asn1352=)
c.4052A= (p.Asn1351=)
c.3761A= (p.Asn1254=)
3g.38712205T>ACA352150645SCN10Ac.4045A>T (p.Asn1349Tyr)
c.4042A>T (p.Asn1348Tyr)
c.4069A>T (p.Asn1357Tyr)
c.3751A>T (p.Asn1251Tyr)
c.4054A>T (p.Asn1352Tyr)
c.4051A>T (p.Asn1351Tyr)
c.3760A>T (p.Asn1254Tyr)
3g.38712205T>CCA352150642SCN10Ac.4045A>G (p.Asn1349Asp)
c.4042A>G (p.Asn1348Asp)
c.4069A>G (p.Asn1357Asp)
c.3751A>G (p.Asn1251Asp)
c.4054A>G (p.Asn1352Asp)
c.4051A>G (p.Asn1351Asp)
c.3760A>G (p.Asn1254Asp)
3g.38712205T>GCA352150644SCN10Ac.4045A>C (p.Asn1349His)
c.4042A>C (p.Asn1348His)
c.4069A>C (p.Asn1357His)
c.3751A>C (p.Asn1251His)
c.4054A>C (p.Asn1352His)
c.4051A>C (p.Asn1351His)
c.3760A>C (p.Asn1254His)
3g.38712206G>ACA433333794SCN10Ac.4044C>T (p.Val1348=)
c.4041C>T (p.Val1347=)
c.4068C>T (p.Val1356=)
c.3750C>T (p.Val1250=)
c.4053C>T (p.Val1351=)
c.4050C>T (p.Val1350=)
c.3759C>T (p.Val1253=)
3g.38712206G>CCA433333791SCN10Ac.4044C>G (p.Val1348=)
c.4041C>G (p.Val1347=)
c.4068C>G (p.Val1356=)
c.3750C>G (p.Val1250=)
c.4053C>G (p.Val1351=)
c.4050C>G (p.Val1350=)
c.3759C>G (p.Val1253=)
3g.38712206G>TCA433333789SCN10Ac.4044C>A (p.Val1348=)
c.4041C>A (p.Val1347=)
c.4068C>A (p.Val1356=)
c.3750C>A (p.Val1250=)
c.4053C>A (p.Val1351=)
c.4050C>A (p.Val1350=)
c.3759C>A (p.Val1253=)
3g.38712207A=CA1358635351SCN10Ac.4043T= (p.Val1348=)
c.4040T= (p.Val1347=)
c.4067T= (p.Val1356=)
c.3749T= (p.Val1250=)
c.4052T= (p.Val1351=)
c.4049T= (p.Val1350=)
c.3758T= (p.Val1253=)
3g.38712207A>CCA352150648SCN10Ac.4043T>G (p.Val1348Gly)
c.4040T>G (p.Val1347Gly)
c.4067T>G (p.Val1356Gly)
c.3749T>G (p.Val1250Gly)
c.4052T>G (p.Val1351Gly)
c.4049T>G (p.Val1350Gly)
c.3758T>G (p.Val1253Gly)
3g.38712207A>GCA352150650SCN10Ac.4043T>C (p.Val1348Ala)
c.4040T>C (p.Val1347Ala)
c.4067T>C (p.Val1356Ala)
c.3749T>C (p.Val1250Ala)
c.4052T>C (p.Val1351Ala)
c.4049T>C (p.Val1350Ala)
c.3758T>C (p.Val1253Ala)
dbSNP
3g.38712207A>TCA352150651SCN10Ac.4043T>A (p.Val1348Asp)
c.4040T>A (p.Val1347Asp)
c.4067T>A (p.Val1356Asp)
c.3749T>A (p.Val1250Asp)
c.4052T>A (p.Val1351Asp)
c.4049T>A (p.Val1350Asp)
c.3758T>A (p.Val1253Asp)
3g.38712208C>ACA352150654SCN10Ac.4042G>T (p.Val1348Phe)
c.4039G>T (p.Val1347Phe)
c.4066G>T (p.Val1356Phe)
c.3748G>T (p.Val1250Phe)
c.4051G>T (p.Val1351Phe)
c.4048G>T (p.Val1350Phe)
c.3757G>T (p.Val1253Phe)
3g.38712208C>GCA352150656SCN10Ac.4042G>C (p.Val1348Leu)
c.4039G>C (p.Val1347Leu)
c.4066G>C (p.Val1356Leu)
c.3748G>C (p.Val1250Leu)
c.4051G>C (p.Val1351Leu)
c.4048G>C (p.Val1350Leu)
c.3757G>C (p.Val1253Leu)
3g.38712208C>TCA352150658SCN10Ac.4042G>A (p.Val1348Ile)
c.4039G>A (p.Val1347Ile)
c.4066G>A (p.Val1356Ile)
c.3748G>A (p.Val1250Ile)
c.4051G>A (p.Val1351Ile)
c.4048G>A (p.Val1350Ile)
c.3757G>A (p.Val1253Ile)
3g.38712209T>ACA352150661SCN10Ac.4041A>T (p.Lys1347Asn)
c.4038A>T (p.Lys1346Asn)
c.4065A>T (p.Lys1355Asn)
c.3747A>T (p.Lys1249Asn)
c.4050A>T (p.Lys1350Asn)
c.4047A>T (p.Lys1349Asn)
c.3756A>T (p.Lys1252Asn)
gnomAD v4
3g.38712209T>CCA433333797SCN10Ac.4041A>G (p.Lys1347=)
c.4038A>G (p.Lys1346=)
c.4065A>G (p.Lys1355=)
c.3747A>G (p.Lys1249=)
c.4050A>G (p.Lys1350=)
c.4047A>G (p.Lys1349=)
c.3756A>G (p.Lys1252=)
3g.38712209T>GCA352150663SCN10Ac.4041A>C (p.Lys1347Asn)
c.4038A>C (p.Lys1346Asn)
c.4065A>C (p.Lys1355Asn)
c.3747A>C (p.Lys1249Asn)
c.4050A>C (p.Lys1350Asn)
c.4047A>C (p.Lys1349Asn)
c.3756A>C (p.Lys1252Asn)
3g.38712210T>ACA352150665SCN10Ac.4040A>T (p.Lys1347Ile)
c.4037A>T (p.Lys1346Ile)
c.4064A>T (p.Lys1355Ile)
c.3746A>T (p.Lys1249Ile)
c.4049A>T (p.Lys1350Ile)
c.4046A>T (p.Lys1349Ile)
c.3755A>T (p.Lys1252Ile)
3g.38712210T>CCA352150667SCN10Ac.4040A>G (p.Lys1347Arg)
c.4037A>G (p.Lys1346Arg)
c.4064A>G (p.Lys1355Arg)
c.3746A>G (p.Lys1249Arg)
c.4049A>G (p.Lys1350Arg)
c.4046A>G (p.Lys1349Arg)
c.3755A>G (p.Lys1252Arg)
3g.38712210T>GCA352150669SCN10Ac.4040A>C (p.Lys1347Thr)
c.4037A>C (p.Lys1346Thr)
c.4064A>C (p.Lys1355Thr)
c.3746A>C (p.Lys1249Thr)
c.4049A>C (p.Lys1350Thr)
c.4046A>C (p.Lys1349Thr)
c.3755A>C (p.Lys1252Thr)
3g.38712211T>ACA352150680SCN10Ac.4039A>T (p.Lys1347Ter)
c.4036A>T (p.Lys1346Ter)
c.4063A>T (p.Lys1355Ter)
c.3745A>T (p.Lys1249Ter)
c.4048A>T (p.Lys1350Ter)
c.4045A>T (p.Lys1349Ter)
c.3754A>T (p.Lys1252Ter)
3g.38712211T>CCA352150678SCN10Ac.4039A>G (p.Lys1347Glu)
c.4036A>G (p.Lys1346Glu)
c.4063A>G (p.Lys1355Glu)
c.3745A>G (p.Lys1249Glu)
c.4048A>G (p.Lys1350Glu)
c.4045A>G (p.Lys1349Glu)
c.3754A>G (p.Lys1252Glu)
gnomAD v4
3g.38712211T>GCA352150676SCN10Ac.4039A>C (p.Lys1347Gln)
c.4036A>C (p.Lys1346Gln)
c.4063A>C (p.Lys1355Gln)
c.3745A>C (p.Lys1249Gln)
c.4048A>C (p.Lys1350Gln)
c.4045A>C (p.Lys1349Gln)
c.3754A>C (p.Lys1252Gln)
3g.38712212C>ACA433333801SCN10Ac.4038G>T (p.Val1346=)
c.4035G>T (p.Val1345=)
c.4062G>T (p.Val1354=)
c.3744G>T (p.Val1248=)
c.4047G>T (p.Val1349=)
c.4044G>T (p.Val1348=)
c.3753G>T (p.Val1251=)
3g.38712212C>GCA433333802SCN10Ac.4038G>C (p.Val1346=)
c.4035G>C (p.Val1345=)
c.4062G>C (p.Val1354=)
c.3744G>C (p.Val1248=)
c.4047G>C (p.Val1349=)
c.4044G>C (p.Val1348=)
c.3753G>C (p.Val1251=)
3g.38712212C>TCA433333803SCN10Ac.4038G>A (p.Val1346=)
c.4035G>A (p.Val1345=)
c.4062G>A (p.Val1354=)
c.3744G>A (p.Val1248=)
c.4047G>A (p.Val1349=)
c.4044G>A (p.Val1348=)
c.3753G>A (p.Val1251=)
3g.38712213A>CCA352150683SCN10Ac.4037T>G (p.Val1346Gly)
c.4034T>G (p.Val1345Gly)
c.4061T>G (p.Val1354Gly)
c.3743T>G (p.Val1248Gly)
c.4046T>G (p.Val1349Gly)
c.4043T>G (p.Val1348Gly)
c.3752T>G (p.Val1251Gly)
3g.38712213A>GCA352150685SCN10Ac.4037T>C (p.Val1346Ala)
c.4034T>C (p.Val1345Ala)
c.4061T>C (p.Val1354Ala)
c.3743T>C (p.Val1248Ala)
c.4046T>C (p.Val1349Ala)
c.4043T>C (p.Val1348Ala)
c.3752T>C (p.Val1251Ala)
3g.38712213A>TCA352150687SCN10Ac.4037T>A (p.Val1346Glu)
c.4034T>A (p.Val1345Glu)
c.4061T>A (p.Val1354Glu)
c.3743T>A (p.Val1248Glu)
c.4046T>A (p.Val1349Glu)
c.4043T>A (p.Val1348Glu)
c.3752T>A (p.Val1251Glu)
3g.38712214C>ACA352150690SCN10Ac.4036G>T (p.Val1346Leu)
c.4033G>T (p.Val1345Leu)
c.4060G>T (p.Val1354Leu)
c.3742G>T (p.Val1248Leu)
c.4045G>T (p.Val1349Leu)
c.4042G>T (p.Val1348Leu)
c.3751G>T (p.Val1251Leu)
3g.38712214C=CA1358635354SCN10Ac.4036G= (p.Val1346=)
c.4033G= (p.Val1345=)
c.4060G= (p.Val1354=)
c.3742G= (p.Val1248=)
c.4045G= (p.Val1349=)
c.4042G= (p.Val1348=)
c.3751G= (p.Val1251=)
3g.38712214C>GCA352150692SCN10Ac.4036G>C (p.Val1346Leu)
c.4033G>C (p.Val1345Leu)
c.4060G>C (p.Val1354Leu)
c.3742G>C (p.Val1248Leu)
c.4045G>C (p.Val1349Leu)
c.4042G>C (p.Val1348Leu)
c.3751G>C (p.Val1251Leu)
3g.38712214C>TCA352150694SCN10Ac.4036G>A (p.Val1346Met)
c.4033G>A (p.Val1345Met)
c.4060G>A (p.Val1354Met)
c.3742G>A (p.Val1248Met)
c.4045G>A (p.Val1349Met)
c.4042G>A (p.Val1348Met)
c.3751G>A (p.Val1251Met)
dbSNP
3g.38712215A>CCA352150696SCN10Ac.4035T>G (p.Asn1345Lys)
c.4032T>G (p.Asn1344Lys)
c.4059T>G (p.Asn1353Lys)
c.3741T>G (p.Asn1247Lys)
c.4044T>G (p.Asn1348Lys)
c.4041T>G (p.Asn1347Lys)
c.3750T>G (p.Asn1250Lys)
gnomAD v4
3g.38712215A>GCA433333806SCN10Ac.4035T>C (p.Asn1345=)
c.4032T>C (p.Asn1344=)
c.4059T>C (p.Asn1353=)
c.3741T>C (p.Asn1247=)
c.4044T>C (p.Asn1348=)
c.4041T>C (p.Asn1347=)
c.3750T>C (p.Asn1250=)
3g.38712215A>TCA352150695SCN10Ac.4035T>A (p.Asn1345Lys)
c.4032T>A (p.Asn1344Lys)
c.4059T>A (p.Asn1353Lys)
c.3741T>A (p.Asn1247Lys)
c.4044T>A (p.Asn1348Lys)
c.4041T>A (p.Asn1347Lys)
c.3750T>A (p.Asn1250Lys)
3g.38712216T>ACA352150699SCN10Ac.4034A>T (p.Asn1345Ile)
c.4031A>T (p.Asn1344Ile)
c.4058A>T (p.Asn1353Ile)
c.3740A>T (p.Asn1247Ile)
c.4043A>T (p.Asn1348Ile)
c.4040A>T (p.Asn1347Ile)
c.3749A>T (p.Asn1250Ile)
3g.38712216T>CCA2320050SCN10Ac.4034A>G (p.Asn1345Ser)
c.4031A>G (p.Asn1344Ser)
c.4058A>G (p.Asn1353Ser)
c.3740A>G (p.Asn1247Ser)
c.4043A>G (p.Asn1348Ser)
c.4040A>G (p.Asn1347Ser)
c.3749A>G (p.Asn1250Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712216T>GCA352150703SCN10Ac.4034A>C (p.Asn1345Thr)
c.4031A>C (p.Asn1344Thr)
c.4058A>C (p.Asn1353Thr)
c.3740A>C (p.Asn1247Thr)
c.4043A>C (p.Asn1348Thr)
c.4040A>C (p.Asn1347Thr)
c.3749A>C (p.Asn1250Thr)
3g.38712216T=CA1358635357SCN10Ac.4034A= (p.Asn1345=)
c.4031A= (p.Asn1344=)
c.4058A= (p.Asn1353=)
c.3740A= (p.Asn1247=)
c.4043A= (p.Asn1348=)
c.4040A= (p.Asn1347=)
c.3749A= (p.Asn1250=)
3g.38712217T>ACA352150706SCN10Ac.4033A>T (p.Asn1345Tyr)
c.4030A>T (p.Asn1344Tyr)
c.4057A>T (p.Asn1353Tyr)
c.3739A>T (p.Asn1247Tyr)
c.4042A>T (p.Asn1348Tyr)
c.4039A>T (p.Asn1347Tyr)
c.3748A>T (p.Asn1250Tyr)
3g.38712217T>CCA352150708SCN10Ac.4033A>G (p.Asn1345Asp)
c.4030A>G (p.Asn1344Asp)
c.4057A>G (p.Asn1353Asp)
c.3739A>G (p.Asn1247Asp)
c.4042A>G (p.Asn1348Asp)
c.4039A>G (p.Asn1347Asp)
c.3748A>G (p.Asn1250Asp)
3g.38712217T>GCA352150710SCN10Ac.4033A>C (p.Asn1345His)
c.4030A>C (p.Asn1344His)
c.4057A>C (p.Asn1353His)
c.3739A>C (p.Asn1247His)
c.4042A>C (p.Asn1348His)
c.4039A>C (p.Asn1347His)
c.3748A>C (p.Asn1250His)
3g.38712218G>ACA433333811SCN10Ac.4032C>T (p.Val1344=)
c.4029C>T (p.Val1343=)
c.4056C>T (p.Val1352=)
c.3738C>T (p.Val1246=)
c.4041C>T (p.Val1347=)
c.4038C>T (p.Val1346=)
c.3747C>T (p.Val1249=)
dbSNP gnomAD v3 gnomAD v4
3g.38712218G>CCA433333812SCN10Ac.4032C>G (p.Val1344=)
c.4029C>G (p.Val1343=)
c.4056C>G (p.Val1352=)
c.3738C>G (p.Val1246=)
c.4041C>G (p.Val1347=)
c.4038C>G (p.Val1346=)
c.3747C>G (p.Val1249=)
3g.38712218G=CA1358635359SCN10Ac.4032C= (p.Val1344=)
c.4029C= (p.Val1343=)
c.4056C= (p.Val1352=)
c.3738C= (p.Val1246=)
c.4041C= (p.Val1347=)
c.4038C= (p.Val1346=)
c.3747C= (p.Val1249=)
3g.38712218G>TCA433333813SCN10Ac.4032C>A (p.Val1344=)
c.4029C>A (p.Val1343=)
c.4056C>A (p.Val1352=)
c.3738C>A (p.Val1246=)
c.4041C>A (p.Val1347=)
c.4038C>A (p.Val1346=)
c.3747C>A (p.Val1249=)
gnomAD v4
3g.38712219A=CA1358635361SCN10Ac.4031T= (p.Val1344=)
c.4028T= (p.Val1343=)
c.4055T= (p.Val1352=)
c.3737T= (p.Val1246=)
c.4040T= (p.Val1347=)
c.4037T= (p.Val1346=)
c.3746T= (p.Val1249=)
3g.38712219A>CCA352150712SCN10Ac.4031T>G (p.Val1344Gly)
c.4028T>G (p.Val1343Gly)
c.4055T>G (p.Val1352Gly)
c.3737T>G (p.Val1246Gly)
c.4040T>G (p.Val1347Gly)
c.4037T>G (p.Val1346Gly)
c.3746T>G (p.Val1249Gly)
dbSNP
3g.38712219A>GCA352150715SCN10Ac.4031T>C (p.Val1344Ala)
c.4028T>C (p.Val1343Ala)
c.4055T>C (p.Val1352Ala)
c.3737T>C (p.Val1246Ala)
c.4040T>C (p.Val1347Ala)
c.4037T>C (p.Val1346Ala)
c.3746T>C (p.Val1249Ala)
3g.38712219A>TCA352150713SCN10Ac.4031T>A (p.Val1344Asp)
c.4028T>A (p.Val1343Asp)
c.4055T>A (p.Val1352Asp)
c.3737T>A (p.Val1246Asp)
c.4040T>A (p.Val1347Asp)
c.4037T>A (p.Val1346Asp)
c.3746T>A (p.Val1249Asp)
dbSNP
3g.38712220C>ACA352150716SCN10Ac.4030G>T (p.Val1344Phe)
c.4027G>T (p.Val1343Phe)
c.4054G>T (p.Val1352Phe)
c.3736G>T (p.Val1246Phe)
c.4039G>T (p.Val1347Phe)
c.4036G>T (p.Val1346Phe)
c.3745G>T (p.Val1249Phe)
3g.38712220C=CA1358635374SCN10Ac.4030G= (p.Val1344=)
c.4027G= (p.Val1343=)
c.4054G= (p.Val1352=)
c.3736G= (p.Val1246=)
c.4039G= (p.Val1347=)
c.4036G= (p.Val1346=)
c.3745G= (p.Val1249=)
3g.38712220C>GCA352150718SCN10Ac.4030G>C (p.Val1344Leu)
c.4027G>C (p.Val1343Leu)
c.4054G>C (p.Val1352Leu)
c.3736G>C (p.Val1246Leu)
c.4039G>C (p.Val1347Leu)
c.4036G>C (p.Val1346Leu)
c.3745G>C (p.Val1249Leu)
3g.38712220C>TCA2320051SCN10Ac.4030G>A (p.Val1344Ile)
c.4027G>A (p.Val1343Ile)
c.4054G>A (p.Val1352Ile)
c.3736G>A (p.Val1246Ile)
c.4039G>A (p.Val1347Ile)
c.4036G>A (p.Val1346Ile)
c.3745G>A (p.Val1249Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712221C>ACA352150721SCN10Ac.4029G>T (p.Trp1343Cys)
c.4026G>T (p.Trp1342Cys)
c.4053G>T (p.Trp1351Cys)
c.3735G>T (p.Trp1245Cys)
c.4038G>T (p.Trp1346Cys)
c.4035G>T (p.Trp1345Cys)
c.3744G>T (p.Trp1248Cys)
3g.38712221C=CA1358635376SCN10Ac.4029G= (p.Trp1343=)
c.4026G= (p.Trp1342=)
c.4053G= (p.Trp1351=)
c.3735G= (p.Trp1245=)
c.4038G= (p.Trp1346=)
c.4035G= (p.Trp1345=)
c.3744G= (p.Trp1248=)
3g.38712221C>GCA352150723SCN10Ac.4029G>C (p.Trp1343Cys)
c.4026G>C (p.Trp1342Cys)
c.4053G>C (p.Trp1351Cys)
c.3735G>C (p.Trp1245Cys)
c.4038G>C (p.Trp1346Cys)
c.4035G>C (p.Trp1345Cys)
c.3744G>C (p.Trp1248Cys)
gnomAD v4
3g.38712221C>TCA72950429SCN10Ac.4029G>A (p.Trp1343Ter)
c.4026G>A (p.Trp1342Ter)
c.4053G>A (p.Trp1351Ter)
c.3735G>A (p.Trp1245Ter)
c.4038G>A (p.Trp1346Ter)
c.4035G>A (p.Trp1345Ter)
c.3744G>A (p.Trp1248Ter)
dbSNP gnomAD v4
3g.38712222C>ACA352150727SCN10Ac.4028G>T (p.Trp1343Leu)
c.4025G>T (p.Trp1342Leu)
c.4052G>T (p.Trp1351Leu)
c.3734G>T (p.Trp1245Leu)
c.4037G>T (p.Trp1346Leu)
c.4034G>T (p.Trp1345Leu)
c.3743G>T (p.Trp1248Leu)
gnomAD v4
3g.38712222C=CA1358635380SCN10Ac.4028G= (p.Trp1343=)
c.4025G= (p.Trp1342=)
c.4052G= (p.Trp1351=)
c.3734G= (p.Trp1245=)
c.4037G= (p.Trp1346=)
c.4034G= (p.Trp1345=)
c.3743G= (p.Trp1248=)
3g.38712222C>GCA352150728SCN10Ac.4028G>C (p.Trp1343Ser)
c.4025G>C (p.Trp1342Ser)
c.4052G>C (p.Trp1351Ser)
c.3734G>C (p.Trp1245Ser)
c.4037G>C (p.Trp1346Ser)
c.4034G>C (p.Trp1345Ser)
c.3743G>C (p.Trp1248Ser)
3g.38712222C>TCA2320052SCN10Ac.4028G>A (p.Trp1343Ter)
c.4025G>A (p.Trp1342Ter)
c.4052G>A (p.Trp1351Ter)
c.3734G>A (p.Trp1245Ter)
c.4037G>A (p.Trp1346Ter)
c.4034G>A (p.Trp1345Ter)
c.3743G>A (p.Trp1248Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712223A>CCA352150732SCN10Ac.4027T>G (p.Trp1343Gly)
c.4024T>G (p.Trp1342Gly)
c.4051T>G (p.Trp1351Gly)
c.3733T>G (p.Trp1245Gly)
c.4036T>G (p.Trp1346Gly)
c.4033T>G (p.Trp1345Gly)
c.3742T>G (p.Trp1248Gly)
3g.38712223A>GCA352150733SCN10Ac.4027T>C (p.Trp1343Arg)
c.4024T>C (p.Trp1342Arg)
c.4051T>C (p.Trp1351Arg)
c.3733T>C (p.Trp1245Arg)
c.4036T>C (p.Trp1346Arg)
c.4033T>C (p.Trp1345Arg)
c.3742T>C (p.Trp1248Arg)
3g.38712223A>TCA352150735SCN10Ac.4027T>A (p.Trp1343Arg)
c.4024T>A (p.Trp1342Arg)
c.4051T>A (p.Trp1351Arg)
c.3733T>A (p.Trp1245Arg)
c.4036T>A (p.Trp1346Arg)
c.4033T>A (p.Trp1345Arg)
c.3742T>A (p.Trp1248Arg)
3g.38712224G>ACA433333824SCN10Ac.4026C>T (p.Phe1342=)
c.4023C>T (p.Phe1341=)
c.4050C>T (p.Phe1350=)
c.3732C>T (p.Phe1244=)
c.4035C>T (p.Phe1345=)
c.4032C>T (p.Phe1344=)
c.3741C>T (p.Phe1247=)
gnomAD v4
3g.38712224G>CCA352150738SCN10Ac.4026C>G (p.Phe1342Leu)
c.4023C>G (p.Phe1341Leu)
c.4050C>G (p.Phe1350Leu)
c.3732C>G (p.Phe1244Leu)
c.4035C>G (p.Phe1345Leu)
c.4032C>G (p.Phe1344Leu)
c.3741C>G (p.Phe1247Leu)
3g.38712224G>TCA352150740SCN10Ac.4026C>A (p.Phe1342Leu)
c.4023C>A (p.Phe1341Leu)
c.4050C>A (p.Phe1350Leu)
c.3732C>A (p.Phe1244Leu)
c.4035C>A (p.Phe1345Leu)
c.4032C>A (p.Phe1344Leu)
c.3741C>A (p.Phe1247Leu)
3g.38712225A=CA1358635383SCN10Ac.4025T= (p.Phe1342=)
c.4022T= (p.Phe1341=)
c.4049T= (p.Phe1350=)
c.3731T= (p.Phe1244=)
c.4034T= (p.Phe1345=)
c.4031T= (p.Phe1344=)
c.3740T= (p.Phe1247=)
3g.38712225A>CCA352150742SCN10Ac.4025T>G (p.Phe1342Cys)
c.4022T>G (p.Phe1341Cys)
c.4049T>G (p.Phe1350Cys)
c.3731T>G (p.Phe1244Cys)
c.4034T>G (p.Phe1345Cys)
c.4031T>G (p.Phe1344Cys)
c.3740T>G (p.Phe1247Cys)
3g.38712225A>GCA2320053SCN10Ac.4025T>C (p.Phe1342Ser)
c.4022T>C (p.Phe1341Ser)
c.4049T>C (p.Phe1350Ser)
c.3731T>C (p.Phe1244Ser)
c.4034T>C (p.Phe1345Ser)
c.4031T>C (p.Phe1344Ser)
c.3740T>C (p.Phe1247Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.38712225A>TCA352150744SCN10Ac.4025T>A (p.Phe1342Tyr)
c.4022T>A (p.Phe1341Tyr)
c.4049T>A (p.Phe1350Tyr)
c.3731T>A (p.Phe1244Tyr)
c.4034T>A (p.Phe1345Tyr)
c.4031T>A (p.Phe1344Tyr)
c.3740T>A (p.Phe1247Tyr)
3g.38712226A=CA1358635387SCN10Ac.4024T= (p.Phe1342=)
c.4021T= (p.Phe1341=)
c.4048T= (p.Phe1350=)
c.3730T= (p.Phe1244=)
c.4033T= (p.Phe1345=)
c.4030T= (p.Phe1344=)
c.3739T= (p.Phe1247=)
3g.38712226A>CCA352150748SCN10Ac.4024T>G (p.Phe1342Val)
c.4021T>G (p.Phe1341Val)
c.4048T>G (p.Phe1350Val)
c.3730T>G (p.Phe1244Val)
c.4033T>G (p.Phe1345Val)
c.4030T>G (p.Phe1344Val)
c.3739T>G (p.Phe1247Val)
3g.38712226A>GCA2320054SCN10Ac.4024T>C (p.Phe1342Leu)
c.4021T>C (p.Phe1341Leu)
c.4048T>C (p.Phe1350Leu)
c.3730T>C (p.Phe1244Leu)
c.4033T>C (p.Phe1345Leu)
c.4030T>C (p.Phe1344Leu)
c.3739T>C (p.Phe1247Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712226A>TCA352150752SCN10Ac.4024T>A (p.Phe1342Ile)
c.4021T>A (p.Phe1341Ile)
c.4048T>A (p.Phe1350Ile)
c.3730T>A (p.Phe1244Ile)
c.4033T>A (p.Phe1345Ile)
c.4030T>A (p.Phe1344Ile)
c.3739T>A (p.Phe1247Ile)
3g.38712227G>ACA433333828SCN10Ac.4023C>T (p.Phe1341=)
c.4020C>T (p.Phe1340=)
c.4047C>T (p.Phe1349=)
c.3729C>T (p.Phe1243=)
c.4032C>T (p.Phe1344=)
c.4029C>T (p.Phe1343=)
c.3738C>T (p.Phe1246=)
dbSNP COSMIC
3g.38712227G>CCA352150754SCN10Ac.4023C>G (p.Phe1341Leu)
c.4020C>G (p.Phe1340Leu)
c.4047C>G (p.Phe1349Leu)
c.3729C>G (p.Phe1243Leu)
c.4032C>G (p.Phe1344Leu)
c.4029C>G (p.Phe1343Leu)
c.3738C>G (p.Phe1246Leu)
3g.38712227G>TCA352150755SCN10Ac.4023C>A (p.Phe1341Leu)
c.4020C>A (p.Phe1340Leu)
c.4047C>A (p.Phe1349Leu)
c.3729C>A (p.Phe1243Leu)
c.4032C>A (p.Phe1344Leu)
c.4029C>A (p.Phe1343Leu)
c.3738C>A (p.Phe1246Leu)
3g.38712228A>CCA352150758SCN10Ac.4022T>G (p.Phe1341Cys)
c.4019T>G (p.Phe1340Cys)
c.4046T>G (p.Phe1349Cys)
c.3728T>G (p.Phe1243Cys)
c.4031T>G (p.Phe1344Cys)
c.4028T>G (p.Phe1343Cys)
c.3737T>G (p.Phe1246Cys)
gnomAD v4
3g.38712228A>GCA352150762SCN10Ac.4022T>C (p.Phe1341Ser)
c.4019T>C (p.Phe1340Ser)
c.4046T>C (p.Phe1349Ser)
c.3728T>C (p.Phe1243Ser)
c.4031T>C (p.Phe1344Ser)
c.4028T>C (p.Phe1343Ser)
c.3737T>C (p.Phe1246Ser)
3g.38712228A>TCA352150764SCN10Ac.4022T>A (p.Phe1341Tyr)
c.4019T>A (p.Phe1340Tyr)
c.4046T>A (p.Phe1349Tyr)
c.3728T>A (p.Phe1243Tyr)
c.4031T>A (p.Phe1344Tyr)
c.4028T>A (p.Phe1343Tyr)
c.3737T>A (p.Phe1246Tyr)
3g.38712229A=CA1358635389SCN10Ac.4021T= (p.Phe1341=)
c.4018T= (p.Phe1340=)
c.4045T= (p.Phe1349=)
c.3727T= (p.Phe1243=)
c.4030T= (p.Phe1344=)
c.4027T= (p.Phe1343=)
c.3736T= (p.Phe1246=)
3g.38712229A>CCA352150765SCN10Ac.4021T>G (p.Phe1341Val)
c.4018T>G (p.Phe1340Val)
c.4045T>G (p.Phe1349Val)
c.3727T>G (p.Phe1243Val)
c.4030T>G (p.Phe1344Val)
c.4027T>G (p.Phe1343Val)
c.3736T>G (p.Phe1246Val)
gnomAD v3 gnomAD v4
3g.38712229A>GCA352150767SCN10Ac.4021T>C (p.Phe1341Leu)
c.4018T>C (p.Phe1340Leu)
c.4045T>C (p.Phe1349Leu)
c.3727T>C (p.Phe1243Leu)
c.4030T>C (p.Phe1344Leu)
c.4027T>C (p.Phe1343Leu)
c.3736T>C (p.Phe1246Leu)
3g.38712229A>TCA352150769SCN10Ac.4021T>A (p.Phe1341Ile)
c.4018T>A (p.Phe1340Ile)
c.4045T>A (p.Phe1349Ile)
c.3727T>A (p.Phe1243Ile)
c.4030T>A (p.Phe1344Ile)
c.4027T>A (p.Phe1343Ile)
c.3736T>A (p.Phe1246Ile)
dbSNP
3g.38712230G>ACA433333831SCN10Ac.4020C>T (p.Ser1340=)
c.4017C>T (p.Ser1339=)
c.4044C>T (p.Ser1348=)
c.3726C>T (p.Ser1242=)
c.4029C>T (p.Ser1343=)
c.4026C>T (p.Ser1342=)
c.3735C>T (p.Ser1245=)
dbSNP
3g.38712230G>CCA352150774SCN10Ac.4020C>G (p.Ser1340Arg)
c.4017C>G (p.Ser1339Arg)
c.4044C>G (p.Ser1348Arg)
c.3726C>G (p.Ser1242Arg)
c.4029C>G (p.Ser1343Arg)
c.4026C>G (p.Ser1342Arg)
c.3735C>G (p.Ser1245Arg)
3g.38712230G>TCA352150772SCN10Ac.4020C>A (p.Ser1340Arg)
c.4017C>A (p.Ser1339Arg)
c.4044C>A (p.Ser1348Arg)
c.3726C>A (p.Ser1242Arg)
c.4029C>A (p.Ser1343Arg)
c.4026C>A (p.Ser1342Arg)
c.3735C>A (p.Ser1245Arg)
gnomAD v4
3g.38712231C>ACA352150775SCN10Ac.4019G>T (p.Ser1340Ile)
c.4016G>T (p.Ser1339Ile)
c.4043G>T (p.Ser1348Ile)
c.3725G>T (p.Ser1242Ile)
c.4028G>T (p.Ser1343Ile)
c.4025G>T (p.Ser1342Ile)
c.3734G>T (p.Ser1245Ile)
3g.38712231C>GCA352150776SCN10Ac.4019G>C (p.Ser1340Thr)
c.4016G>C (p.Ser1339Thr)
c.4043G>C (p.Ser1348Thr)
c.3725G>C (p.Ser1242Thr)
c.4028G>C (p.Ser1343Thr)
c.4025G>C (p.Ser1342Thr)
c.3734G>C (p.Ser1245Thr)
3g.38712231C>TCA352150779SCN10Ac.4019G>A (p.Ser1340Asn)
c.4016G>A (p.Ser1339Asn)
c.4043G>A (p.Ser1348Asn)
c.3725G>A (p.Ser1242Asn)
c.4028G>A (p.Ser1343Asn)
c.4025G>A (p.Ser1342Asn)
c.3734G>A (p.Ser1245Asn)
3g.38712232T>ACA352150782SCN10Ac.4018A>T (p.Ser1340Cys)
c.4015A>T (p.Ser1339Cys)
c.4042A>T (p.Ser1348Cys)
c.3724A>T (p.Ser1242Cys)
c.4027A>T (p.Ser1343Cys)
c.4024A>T (p.Ser1342Cys)
c.3733A>T (p.Ser1245Cys)
3g.38712232T>CCA352150784SCN10Ac.4018A>G (p.Ser1340Gly)
c.4015A>G (p.Ser1339Gly)
c.4042A>G (p.Ser1348Gly)
c.3724A>G (p.Ser1242Gly)
c.4027A>G (p.Ser1343Gly)
c.4024A>G (p.Ser1342Gly)
c.3733A>G (p.Ser1245Gly)
3g.38712232T>GCA352150786SCN10Ac.4018A>C (p.Ser1340Arg)
c.4015A>C (p.Ser1339Arg)
c.4042A>C (p.Ser1348Arg)
c.3724A>C (p.Ser1242Arg)
c.4027A>C (p.Ser1343Arg)
c.4024A>C (p.Ser1342Arg)
c.3733A>C (p.Ser1245Arg)
3g.38712233G>ACA433333834SCN10Ac.4017C>T (p.Gly1339=)
c.4014C>T (p.Gly1338=)
c.4041C>T (p.Gly1347=)
c.3723C>T (p.Gly1241=)
c.4026C>T (p.Gly1342=)
c.4023C>T (p.Gly1341=)
c.3732C>T (p.Gly1244=)
3g.38712233G>CCA433333835SCN10Ac.4017C>G (p.Gly1339=)
c.4014C>G (p.Gly1338=)
c.4041C>G (p.Gly1347=)
c.3723C>G (p.Gly1241=)
c.4026C>G (p.Gly1342=)
c.4023C>G (p.Gly1341=)
c.3732C>G (p.Gly1244=)
3g.38712233G>TCA433333836SCN10Ac.4017C>A (p.Gly1339=)
c.4014C>A (p.Gly1338=)
c.4041C>A (p.Gly1347=)
c.3723C>A (p.Gly1241=)
c.4026C>A (p.Gly1342=)
c.4023C>A (p.Gly1341=)
c.3732C>A (p.Gly1244=)
gnomAD v4
3g.38712234C>ACA352150789SCN10Ac.4016G>T (p.Gly1339Val)
c.4013G>T (p.Gly1338Val)
c.4040G>T (p.Gly1347Val)
c.3722G>T (p.Gly1241Val)
c.4025G>T (p.Gly1342Val)
c.4022G>T (p.Gly1341Val)
c.3731G>T (p.Gly1244Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38712234C=CA1358635392SCN10Ac.4016G= (p.Gly1339=)
c.4013G= (p.Gly1338=)
c.4040G= (p.Gly1347=)
c.3722G= (p.Gly1241=)
c.4025G= (p.Gly1342=)
c.4022G= (p.Gly1341=)
c.3731G= (p.Gly1244=)
3g.38712234C>GCA352150790SCN10Ac.4016G>C (p.Gly1339Ala)
c.4013G>C (p.Gly1338Ala)
c.4040G>C (p.Gly1347Ala)
c.3722G>C (p.Gly1241Ala)
c.4025G>C (p.Gly1342Ala)
c.4022G>C (p.Gly1341Ala)
c.3731G>C (p.Gly1244Ala)
3g.38712234C>TCA352150793SCN10Ac.4016G>A (p.Gly1339Asp)
c.4013G>A (p.Gly1338Asp)
c.4040G>A (p.Gly1347Asp)
c.3722G>A (p.Gly1241Asp)
c.4025G>A (p.Gly1342Asp)
c.4022G>A (p.Gly1341Asp)
c.3731G>A (p.Gly1244Asp)
3g.38712235C>ACA352150795SCN10Ac.4015G>T (p.Gly1339Cys)
c.4012G>T (p.Gly1338Cys)
c.4039G>T (p.Gly1347Cys)
c.3721G>T (p.Gly1241Cys)
c.4024G>T (p.Gly1342Cys)
c.4021G>T (p.Gly1341Cys)
c.3730G>T (p.Gly1244Cys)
gnomAD v4
3g.38712235C=CA1358635396SCN10Ac.4015G= (p.Gly1339=)
c.4012G= (p.Gly1338=)
c.4039G= (p.Gly1347=)
c.3721G= (p.Gly1241=)
c.4024G= (p.Gly1342=)
c.4021G= (p.Gly1341=)
c.3730G= (p.Gly1244=)
3g.38712235C>GCA352150798SCN10Ac.4015G>C (p.Gly1339Arg)
c.4012G>C (p.Gly1338Arg)
c.4039G>C (p.Gly1347Arg)
c.3721G>C (p.Gly1241Arg)
c.4024G>C (p.Gly1342Arg)
c.4021G>C (p.Gly1341Arg)
c.3730G>C (p.Gly1244Arg)
3g.38712235C>TCA72950441SCN10Ac.4015G>A (p.Gly1339Ser)
c.4012G>A (p.Gly1338Ser)
c.4039G>A (p.Gly1347Ser)
c.3721G>A (p.Gly1241Ser)
c.4024G>A (p.Gly1342Ser)
c.4021G>A (p.Gly1341Ser)
c.3730G>A (p.Gly1244Ser)
dbSNP gnomAD v3 gnomAD v4
3g.38712236A>CCA433333845SCN10Ac.4014T>G (p.Thr1338=)
c.4011T>G (p.Thr1337=)
c.4038T>G (p.Thr1346=)
c.3720T>G (p.Thr1240=)
c.4023T>G (p.Thr1341=)
c.4020T>G (p.Thr1340=)
c.3729T>G (p.Thr1243=)
3g.38712236A>GCA433333841SCN10Ac.4014T>C (p.Thr1338=)
c.4011T>C (p.Thr1337=)
c.4038T>C (p.Thr1346=)
c.3720T>C (p.Thr1240=)
c.4023T>C (p.Thr1341=)
c.4020T>C (p.Thr1340=)
c.3729T>C (p.Thr1243=)
dbSNP gnomAD v4
3g.38712236A>TCA433333843SCN10Ac.4014T>A (p.Thr1338=)
c.4011T>A (p.Thr1337=)
c.4038T>A (p.Thr1346=)
c.3720T>A (p.Thr1240=)
c.4023T>A (p.Thr1341=)
c.4020T>A (p.Thr1340=)
c.3729T>A (p.Thr1243=)
3g.38712237G>ACA352150804SCN10Ac.4013C>T (p.Thr1338Ile)
c.4010C>T (p.Thr1337Ile)
c.4037C>T (p.Thr1346Ile)
c.3719C>T (p.Thr1240Ile)
c.4022C>T (p.Thr1341Ile)
c.4019C>T (p.Thr1340Ile)
c.3728C>T (p.Thr1243Ile)
gnomAD v4
3g.38712237G>CCA352150806SCN10Ac.4013C>G (p.Thr1338Ser)
c.4010C>G (p.Thr1337Ser)
c.4037C>G (p.Thr1346Ser)
c.3719C>G (p.Thr1240Ser)
c.4022C>G (p.Thr1341Ser)
c.4019C>G (p.Thr1340Ser)
c.3728C>G (p.Thr1243Ser)
3g.38712237G>TCA352150802SCN10Ac.4013C>A (p.Thr1338Asn)
c.4010C>A (p.Thr1337Asn)
c.4037C>A (p.Thr1346Asn)
c.3719C>A (p.Thr1240Asn)
c.4022C>A (p.Thr1341Asn)
c.4019C>A (p.Thr1340Asn)
c.3728C>A (p.Thr1243Asn)
3g.38712238T>ACA352150809SCN10Ac.4012A>T (p.Thr1338Ser)
c.4009A>T (p.Thr1337Ser)
c.4036A>T (p.Thr1346Ser)
c.3718A>T (p.Thr1240Ser)
c.4021A>T (p.Thr1341Ser)
c.4018A>T (p.Thr1340Ser)
c.3727A>T (p.Thr1243Ser)
3g.38712238T>CCA352150811SCN10Ac.4012A>G (p.Thr1338Ala)
c.4009A>G (p.Thr1337Ala)
c.4036A>G (p.Thr1346Ala)
c.3718A>G (p.Thr1240Ala)
c.4021A>G (p.Thr1341Ala)
c.4018A>G (p.Thr1340Ala)
c.3727A>G (p.Thr1243Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38712238T>GCA352150813SCN10Ac.4012A>C (p.Thr1338Pro)
c.4009A>C (p.Thr1337Pro)
c.4036A>C (p.Thr1346Pro)
c.3718A>C (p.Thr1240Pro)
c.4021A>C (p.Thr1341Pro)
c.4018A>C (p.Thr1340Pro)
c.3727A>C (p.Thr1243Pro)
3g.38712238T=CA1358635399SCN10Ac.4012A= (p.Thr1338=)
c.4009A= (p.Thr1337=)
c.4036A= (p.Thr1346=)
c.3718A= (p.Thr1240=)
c.4021A= (p.Thr1341=)
c.4018A= (p.Thr1340=)
c.3727A= (p.Thr1243=)
3g.38712239G>ACA433333850SCN10Ac.4011C>T (p.Ser1337=)
c.4008C>T (p.Ser1336=)
c.4035C>T (p.Ser1345=)
c.3717C>T (p.Ser1239=)
c.4020C>T (p.Ser1340=)
c.4017C>T (p.Ser1339=)
c.3726C>T (p.Ser1242=)
dbSNP gnomAD v2 gnomAD v4
3g.38712239G>CCA433333851SCN10Ac.4011C>G (p.Ser1337=)
c.4008C>G (p.Ser1336=)
c.4035C>G (p.Ser1345=)
c.3717C>G (p.Ser1239=)
c.4020C>G (p.Ser1340=)
c.4017C>G (p.Ser1339=)
c.3726C>G (p.Ser1242=)
3g.38712239G=CA1358635402SCN10Ac.4011C= (p.Ser1337=)
c.4008C= (p.Ser1336=)
c.4035C= (p.Ser1345=)
c.3717C= (p.Ser1239=)
c.4020C= (p.Ser1340=)
c.4017C= (p.Ser1339=)
c.3726C= (p.Ser1242=)
3g.38712239G>TCA433333852SCN10Ac.4011C>A (p.Ser1337=)
c.4008C>A (p.Ser1336=)
c.4035C>A (p.Ser1345=)
c.3717C>A (p.Ser1239=)
c.4020C>A (p.Ser1340=)
c.4017C>A (p.Ser1339=)
c.3726C>A (p.Ser1242=)
3g.38712240G>ACA352150815SCN10Ac.4010C>T (p.Ser1337Phe)
c.4007C>T (p.Ser1336Phe)
c.4034C>T (p.Ser1345Phe)
c.3716C>T (p.Ser1239Phe)
c.4019C>T (p.Ser1340Phe)
c.4016C>T (p.Ser1339Phe)
c.3725C>T (p.Ser1242Phe)
3g.38712240G>CCA352150817SCN10Ac.4010C>G (p.Ser1337Cys)
c.4007C>G (p.Ser1336Cys)
c.4034C>G (p.Ser1345Cys)
c.3716C>G (p.Ser1239Cys)
c.4019C>G (p.Ser1340Cys)
c.4016C>G (p.Ser1339Cys)
c.3725C>G (p.Ser1242Cys)
3g.38712240G>TCA352150820SCN10Ac.4010C>A (p.Ser1337Tyr)
c.4007C>A (p.Ser1336Tyr)
c.4034C>A (p.Ser1345Tyr)
c.3716C>A (p.Ser1239Tyr)
c.4019C>A (p.Ser1340Tyr)
c.4016C>A (p.Ser1339Tyr)
c.3725C>A (p.Ser1242Tyr)
3g.38712241A=CA1358635407SCN10Ac.4009T= (p.Ser1337=)
c.4006T= (p.Ser1336=)
c.4033T= (p.Ser1345=)
c.3715T= (p.Ser1239=)
c.4018T= (p.Ser1340=)
c.4015T= (p.Ser1339=)
c.3724T= (p.Ser1242=)
3g.38712241A>CCA352150822SCN10Ac.4009T>G (p.Ser1337Ala)
c.4006T>G (p.Ser1336Ala)
c.4033T>G (p.Ser1345Ala)
c.3715T>G (p.Ser1239Ala)
c.4018T>G (p.Ser1340Ala)
c.4015T>G (p.Ser1339Ala)
c.3724T>G (p.Ser1242Ala)
gnomAD v4
3g.38712241A>GCA352150824SCN10Ac.4009T>C (p.Ser1337Pro)
c.4006T>C (p.Ser1336Pro)
c.4033T>C (p.Ser1345Pro)
c.3715T>C (p.Ser1239Pro)
c.4018T>C (p.Ser1340Pro)
c.4015T>C (p.Ser1339Pro)
c.3724T>C (p.Ser1242Pro)
3g.38712241A>TCA2320055SCN10Ac.4009T>A (p.Ser1337Thr)
c.4006T>A (p.Ser1336Thr)
c.4033T>A (p.Ser1345Thr)
c.3715T>A (p.Ser1239Thr)
c.4018T>A (p.Ser1340Thr)
c.4015T>A (p.Ser1339Thr)
c.3724T>A (p.Ser1242Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712242G>ACA72950446SCN10Ac.4008C>T (p.Asn1336=)
c.4005C>T (p.Asn1335=)
c.4032C>T (p.Asn1344=)
c.3714C>T (p.Asn1238=)
c.4017C>T (p.Asn1339=)
c.4014C>T (p.Asn1338=)
c.3723C>T (p.Asn1241=)
dbSNP gnomAD v4
3g.38712242G>CCA352150828SCN10Ac.4008C>G (p.Asn1336Lys)
c.4005C>G (p.Asn1335Lys)
c.4032C>G (p.Asn1344Lys)
c.3714C>G (p.Asn1238Lys)
c.4017C>G (p.Asn1339Lys)
c.4014C>G (p.Asn1338Lys)
c.3723C>G (p.Asn1241Lys)
3g.38712242G=CA1358635409SCN10Ac.4008C= (p.Asn1336=)
c.4005C= (p.Asn1335=)
c.4032C= (p.Asn1344=)
c.3714C= (p.Asn1238=)
c.4017C= (p.Asn1339=)
c.4014C= (p.Asn1338=)
c.3723C= (p.Asn1241=)
3g.38712242G>TCA352150830SCN10Ac.4008C>A (p.Asn1336Lys)
c.4005C>A (p.Asn1335Lys)
c.4032C>A (p.Asn1344Lys)
c.3714C>A (p.Asn1238Lys)
c.4017C>A (p.Asn1339Lys)
c.4014C>A (p.Asn1338Lys)
c.3723C>A (p.Asn1241Lys)
3g.38712243T>ACA352150836SCN10Ac.4007A>T (p.Asn1336Ile)
c.4004A>T (p.Asn1335Ile)
c.4031A>T (p.Asn1344Ile)
c.3713A>T (p.Asn1238Ile)
c.4016A>T (p.Asn1339Ile)
c.4013A>T (p.Asn1338Ile)
c.3722A>T (p.Asn1241Ile)
3g.38712243T>CCA352150838SCN10Ac.4007A>G (p.Asn1336Ser)
c.4004A>G (p.Asn1335Ser)
c.4031A>G (p.Asn1344Ser)
c.3713A>G (p.Asn1238Ser)
c.4016A>G (p.Asn1339Ser)
c.4013A>G (p.Asn1338Ser)
c.3722A>G (p.Asn1241Ser)
3g.38712243T>GCA352150833SCN10Ac.4007A>C (p.Asn1336Thr)
c.4004A>C (p.Asn1335Thr)
c.4031A>C (p.Asn1344Thr)
c.3713A>C (p.Asn1238Thr)
c.4016A>C (p.Asn1339Thr)
c.4013A>C (p.Asn1338Thr)
c.3722A>C (p.Asn1241Thr)
3g.38712244T>ACA352150841SCN10Ac.4006A>T (p.Asn1336Tyr)
c.4003A>T (p.Asn1335Tyr)
c.4030A>T (p.Asn1344Tyr)
c.3712A>T (p.Asn1238Tyr)
c.4015A>T (p.Asn1339Tyr)
c.4012A>T (p.Asn1338Tyr)
c.3721A>T (p.Asn1241Tyr)
3g.38712244T>CCA352150843SCN10Ac.4006A>G (p.Asn1336Asp)
c.4003A>G (p.Asn1335Asp)
c.4030A>G (p.Asn1344Asp)
c.3712A>G (p.Asn1238Asp)
c.4015A>G (p.Asn1339Asp)
c.4012A>G (p.Asn1338Asp)
c.3721A>G (p.Asn1241Asp)
3g.38712244T>GCA352150845SCN10Ac.4006A>C (p.Asn1336His)
c.4003A>C (p.Asn1335His)
c.4030A>C (p.Asn1344His)
c.3712A>C (p.Asn1238His)
c.4015A>C (p.Asn1339His)
c.4012A>C (p.Asn1338His)
c.3721A>C (p.Asn1241His)
3g.38712245T>ACA352150848SCN10Ac.4005A>T (p.Gln1335His)
c.4002A>T (p.Gln1334His)
c.4029A>T (p.Gln1343His)
c.3711A>T (p.Gln1237His)
c.4014A>T (p.Gln1338His)
c.4011A>T (p.Gln1337His)
c.3720A>T (p.Gln1240His)
3g.38712245T>CCA433333859SCN10Ac.4005A>G (p.Gln1335=)
c.4002A>G (p.Gln1334=)
c.4029A>G (p.Gln1343=)
c.3711A>G (p.Gln1237=)
c.4014A>G (p.Gln1338=)
c.4011A>G (p.Gln1337=)
c.3720A>G (p.Gln1240=)
3g.38712245T>GCA352150849SCN10Ac.4005A>C (p.Gln1335His)
c.4002A>C (p.Gln1334His)
c.4029A>C (p.Gln1343His)
c.3711A>C (p.Gln1237His)
c.4014A>C (p.Gln1338His)
c.4011A>C (p.Gln1337His)
c.3720A>C (p.Gln1240His)
3g.38712246T>ACA352150856SCN10Ac.4004A>T (p.Gln1335Leu)
c.4001A>T (p.Gln1334Leu)
c.4028A>T (p.Gln1343Leu)
c.3710A>T (p.Gln1237Leu)
c.4013A>T (p.Gln1338Leu)
c.4010A>T (p.Gln1337Leu)
c.3719A>T (p.Gln1240Leu)
3g.38712246T>CCA352150854SCN10Ac.4004A>G (p.Gln1335Arg)
c.4001A>G (p.Gln1334Arg)
c.4028A>G (p.Gln1343Arg)
c.3710A>G (p.Gln1237Arg)
c.4013A>G (p.Gln1338Arg)
c.4010A>G (p.Gln1337Arg)
c.3719A>G (p.Gln1240Arg)
dbSNP gnomAD v4
3g.38712246T>GCA352150852SCN10Ac.4004A>C (p.Gln1335Pro)
c.4001A>C (p.Gln1334Pro)
c.4028A>C (p.Gln1343Pro)
c.3710A>C (p.Gln1237Pro)
c.4013A>C (p.Gln1338Pro)
c.4010A>C (p.Gln1337Pro)
c.3719A>C (p.Gln1240Pro)
3g.38712246T=CA1358635411SCN10Ac.4004A= (p.Gln1335=)
c.4001A= (p.Gln1334=)
c.4028A= (p.Gln1343=)
c.3710A= (p.Gln1237=)
c.4013A= (p.Gln1338=)
c.4010A= (p.Gln1337=)
c.3719A= (p.Gln1240=)
3g.38712247G>ACA352150859SCN10Ac.4003C>T (p.Gln1335Ter)
c.4000C>T (p.Gln1334Ter)
c.4027C>T (p.Gln1343Ter)
c.3709C>T (p.Gln1237Ter)
c.4012C>T (p.Gln1338Ter)
c.4009C>T (p.Gln1337Ter)
c.3718C>T (p.Gln1240Ter)
gnomAD v4
3g.38712247G>CCA352150861SCN10Ac.4003C>G (p.Gln1335Glu)
c.4000C>G (p.Gln1334Glu)
c.4027C>G (p.Gln1343Glu)
c.3709C>G (p.Gln1237Glu)
c.4012C>G (p.Gln1338Glu)
c.4009C>G (p.Gln1337Glu)
c.3718C>G (p.Gln1240Glu)
3g.38712247G>TCA352150863SCN10Ac.4003C>A (p.Gln1335Lys)
c.4000C>A (p.Gln1334Lys)
c.4027C>A (p.Gln1343Lys)
c.3709C>A (p.Gln1237Lys)
c.4012C>A (p.Gln1338Lys)
c.4009C>A (p.Gln1337Lys)
c.3718C>A (p.Gln1240Lys)
3g.38712248A>CCA352150865SCN10Ac.4002T>G (p.Ile1334Met)
c.3999T>G (p.Ile1333Met)
c.4026T>G (p.Ile1342Met)
c.3708T>G (p.Ile1236Met)
c.4011T>G (p.Ile1337Met)
c.4008T>G (p.Ile1336Met)
c.3717T>G (p.Ile1239Met)
3g.38712248A>GCA433333862SCN10Ac.4002T>C (p.Ile1334=)
c.3999T>C (p.Ile1333=)
c.4026T>C (p.Ile1342=)
c.3708T>C (p.Ile1236=)
c.4011T>C (p.Ile1337=)
c.4008T>C (p.Ile1336=)
c.3717T>C (p.Ile1239=)
3g.38712248A>TCA433333863SCN10Ac.4002T>A (p.Ile1334=)
c.3999T>A (p.Ile1333=)
c.4026T>A (p.Ile1342=)
c.3708T>A (p.Ile1236=)
c.4011T>A (p.Ile1337=)
c.4008T>A (p.Ile1336=)
c.3717T>A (p.Ile1239=)

Number of alleles fetched