Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
3g.38712249A=CA1358635413SCN10Ac.4001T= (p.Ile1334=)
c.3998T= (p.Ile1333=)
c.4025T= (p.Ile1342=)
c.3707T= (p.Ile1236=)
c.4010T= (p.Ile1337=)
c.4007T= (p.Ile1336=)
c.3716T= (p.Ile1239=)
3g.38712249A>CCA352150868SCN10Ac.4001T>G (p.Ile1334Ser)
c.3998T>G (p.Ile1333Ser)
c.4025T>G (p.Ile1342Ser)
c.3707T>G (p.Ile1236Ser)
c.4010T>G (p.Ile1337Ser)
c.4007T>G (p.Ile1336Ser)
c.3716T>G (p.Ile1239Ser)
3g.38712249A>GCA352150870SCN10Ac.4001T>C (p.Ile1334Thr)
c.3998T>C (p.Ile1333Thr)
c.4025T>C (p.Ile1342Thr)
c.3707T>C (p.Ile1236Thr)
c.4010T>C (p.Ile1337Thr)
c.4007T>C (p.Ile1336Thr)
c.3716T>C (p.Ile1239Thr)
dbSNP gnomAD v4
3g.38712249A>TCA352150871SCN10Ac.4001T>A (p.Ile1334Asn)
c.3998T>A (p.Ile1333Asn)
c.4025T>A (p.Ile1342Asn)
c.3707T>A (p.Ile1236Asn)
c.4010T>A (p.Ile1337Asn)
c.4007T>A (p.Ile1336Asn)
c.3716T>A (p.Ile1239Asn)
3g.38712249_38712250delCA2513592933SCN10Ac.4000_4001del (p.Ile1334SerfsTer17)
c.3997_3998del (p.Ile1333SerfsTer17)
c.4024_4025del (p.Ile1342SerfsTer17)
c.3706_3707del (p.Ile1236SerfsTer17)
c.4009_4010del (p.Ile1337SerfsTer17)
c.4006_4007del (p.Ile1336SerfsTer17)
c.3715_3716del (p.Ile1239SerfsTer17)
3g.38712250T>ACA352150876SCN10Ac.4000A>T (p.Ile1334Phe)
c.3997A>T (p.Ile1333Phe)
c.4024A>T (p.Ile1342Phe)
c.3706A>T (p.Ile1236Phe)
c.4009A>T (p.Ile1337Phe)
c.4006A>T (p.Ile1336Phe)
c.3715A>T (p.Ile1239Phe)
3g.38712250T>CCA352150877SCN10Ac.4000A>G (p.Ile1334Val)
c.3997A>G (p.Ile1333Val)
c.4024A>G (p.Ile1342Val)
c.3706A>G (p.Ile1236Val)
c.4009A>G (p.Ile1337Val)
c.4006A>G (p.Ile1336Val)
c.3715A>G (p.Ile1239Val)
gnomAD v4
3g.38712250T>GCA352150874SCN10Ac.4000A>C (p.Ile1334Leu)
c.3997A>C (p.Ile1333Leu)
c.4024A>C (p.Ile1342Leu)
c.3706A>C (p.Ile1236Leu)
c.4009A>C (p.Ile1337Leu)
c.4006A>C (p.Ile1336Leu)
c.3715A>C (p.Ile1239Leu)
3g.38712251C>ACA352150882SCN10Ac.3999G>T (p.Lys1333Asn)
c.3996G>T (p.Lys1332Asn)
c.4023G>T (p.Lys1341Asn)
c.3705G>T (p.Lys1235Asn)
c.4008G>T (p.Lys1336Asn)
c.4005G>T (p.Lys1335Asn)
c.3714G>T (p.Lys1238Asn)
3g.38712251C=CA1358635416SCN10Ac.3999G= (p.Lys1333=)
c.3996G= (p.Lys1332=)
c.4023G= (p.Lys1341=)
c.3705G= (p.Lys1235=)
c.4008G= (p.Lys1336=)
c.4005G= (p.Lys1335=)
c.3714G= (p.Lys1238=)
3g.38712251C>GCA352150880SCN10Ac.3999G>C (p.Lys1333Asn)
c.3996G>C (p.Lys1332Asn)
c.4023G>C (p.Lys1341Asn)
c.3705G>C (p.Lys1235Asn)
c.4008G>C (p.Lys1336Asn)
c.4005G>C (p.Lys1335Asn)
c.3714G>C (p.Lys1238Asn)
3g.38712251C>TCA433333865SCN10Ac.3999G>A (p.Lys1333=)
c.3996G>A (p.Lys1332=)
c.4023G>A (p.Lys1341=)
c.3705G>A (p.Lys1235=)
c.4008G>A (p.Lys1336=)
c.4005G>A (p.Lys1335=)
c.3714G>A (p.Lys1238=)
dbSNP gnomAD v3 gnomAD v4
3g.38712251_38712252insGCA2567457461SCN10Ac.3998_3999insC (p.Lys1333AsnfsTer19)
c.3995_3996insC (p.Lys1332AsnfsTer19)
c.4022_4023insC (p.Lys1341AsnfsTer19)
c.3704_3705insC (p.Lys1235AsnfsTer19)
c.4007_4008insC (p.Lys1336AsnfsTer19)
c.4004_4005insC (p.Lys1335AsnfsTer19)
c.3713_3714insC (p.Lys1238AsnfsTer19)
3g.38712252T>ACA2320056SCN10Ac.3998A>T (p.Lys1333Met)
c.3995A>T (p.Lys1332Met)
c.4022A>T (p.Lys1341Met)
c.3704A>T (p.Lys1235Met)
c.4007A>T (p.Lys1336Met)
c.4004A>T (p.Lys1335Met)
c.3713A>T (p.Lys1238Met)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712252T>CCA352150885SCN10Ac.3998A>G (p.Lys1333Arg)
c.3995A>G (p.Lys1332Arg)
c.4022A>G (p.Lys1341Arg)
c.3704A>G (p.Lys1235Arg)
c.4007A>G (p.Lys1336Arg)
c.4004A>G (p.Lys1335Arg)
c.3713A>G (p.Lys1238Arg)
3g.38712252T>GCA352150887SCN10Ac.3998A>C (p.Lys1333Thr)
c.3995A>C (p.Lys1332Thr)
c.4022A>C (p.Lys1341Thr)
c.3704A>C (p.Lys1235Thr)
c.4007A>C (p.Lys1336Thr)
c.4004A>C (p.Lys1335Thr)
c.3713A>C (p.Lys1238Thr)
3g.38712252T=CA1358635420SCN10Ac.3998A= (p.Lys1333=)
c.3995A= (p.Lys1332=)
c.4022A= (p.Lys1341=)
c.3704A= (p.Lys1235=)
c.4007A= (p.Lys1336=)
c.4004A= (p.Lys1335=)
c.3713A= (p.Lys1238=)
3g.38712253T>ACA352150890SCN10Ac.3997A>T (p.Lys1333Ter)
c.3994A>T (p.Lys1332Ter)
c.4021A>T (p.Lys1341Ter)
c.3703A>T (p.Lys1235Ter)
c.4006A>T (p.Lys1336Ter)
c.4003A>T (p.Lys1335Ter)
c.3712A>T (p.Lys1238Ter)
3g.38712253T>CCA352150892SCN10Ac.3997A>G (p.Lys1333Glu)
c.3994A>G (p.Lys1332Glu)
c.4021A>G (p.Lys1341Glu)
c.3703A>G (p.Lys1235Glu)
c.4006A>G (p.Lys1336Glu)
c.4003A>G (p.Lys1335Glu)
c.3712A>G (p.Lys1238Glu)
gnomAD v4
3g.38712253T>GCA352150894SCN10Ac.3997A>C (p.Lys1333Gln)
c.3994A>C (p.Lys1332Gln)
c.4021A>C (p.Lys1341Gln)
c.3703A>C (p.Lys1235Gln)
c.4006A>C (p.Lys1336Gln)
c.4003A>C (p.Lys1335Gln)
c.3712A>C (p.Lys1238Gln)
3g.38712253_38712254insCCA2541405309SCN10Ac.3996_3997insG (p.Lys1333GlufsTer19)
c.3993_3994insG (p.Lys1332GlufsTer19)
c.4020_4021insG (p.Lys1341GlufsTer19)
c.3702_3703insG (p.Lys1235GlufsTer19)
c.4005_4006insG (p.Lys1336GlufsTer19)
c.4002_4003insG (p.Lys1335GlufsTer19)
c.3711_3712insG (p.Lys1238GlufsTer19)
3g.38712254G>ACA433333867SCN10Ac.3996C>T (p.Cys1332=)
c.3993C>T (p.Cys1331=)
c.4020C>T (p.Cys1340=)
c.3702C>T (p.Cys1234=)
c.4005C>T (p.Cys1335=)
c.4002C>T (p.Cys1334=)
c.3711C>T (p.Cys1237=)
gnomAD v4
3g.38712254G>CCA352150897SCN10Ac.3996C>G (p.Cys1332Trp)
c.3993C>G (p.Cys1331Trp)
c.4020C>G (p.Cys1340Trp)
c.3702C>G (p.Cys1234Trp)
c.4005C>G (p.Cys1335Trp)
c.4002C>G (p.Cys1334Trp)
c.3711C>G (p.Cys1237Trp)
3g.38712254G>TCA352150899SCN10Ac.3996C>A (p.Cys1332Ter)
c.3993C>A (p.Cys1331Ter)
c.4020C>A (p.Cys1340Ter)
c.3702C>A (p.Cys1234Ter)
c.4005C>A (p.Cys1335Ter)
c.4002C>A (p.Cys1334Ter)
c.3711C>A (p.Cys1237Ter)
3g.38712255C>ACA352150905SCN10Ac.3995G>T (p.Cys1332Phe)
c.3992G>T (p.Cys1331Phe)
c.4019G>T (p.Cys1340Phe)
c.3701G>T (p.Cys1234Phe)
c.4004G>T (p.Cys1335Phe)
c.4001G>T (p.Cys1334Phe)
c.3710G>T (p.Cys1237Phe)
3g.38712255C>GCA352150901SCN10Ac.3995G>C (p.Cys1332Ser)
c.3992G>C (p.Cys1331Ser)
c.4019G>C (p.Cys1340Ser)
c.3701G>C (p.Cys1234Ser)
c.4004G>C (p.Cys1335Ser)
c.4001G>C (p.Cys1334Ser)
c.3710G>C (p.Cys1237Ser)
3g.38712255C>TCA352150903SCN10Ac.3995G>A (p.Cys1332Tyr)
c.3992G>A (p.Cys1331Tyr)
c.4019G>A (p.Cys1340Tyr)
c.3701G>A (p.Cys1234Tyr)
c.4004G>A (p.Cys1335Tyr)
c.4001G>A (p.Cys1334Tyr)
c.3710G>A (p.Cys1237Tyr)
COSMIC
3g.38712256A=CA1358635424SCN10Ac.3994T= (p.Cys1332=)
c.3991T= (p.Cys1331=)
c.4018T= (p.Cys1340=)
c.3700T= (p.Cys1234=)
c.4003T= (p.Cys1335=)
c.4000T= (p.Cys1334=)
c.3709T= (p.Cys1237=)
3g.38712256A>CCA352150907SCN10Ac.3994T>G (p.Cys1332Gly)
c.3991T>G (p.Cys1331Gly)
c.4018T>G (p.Cys1340Gly)
c.3700T>G (p.Cys1234Gly)
c.4003T>G (p.Cys1335Gly)
c.4000T>G (p.Cys1334Gly)
c.3709T>G (p.Cys1237Gly)
3g.38712256A>GCA352150909SCN10Ac.3994T>C (p.Cys1332Arg)
c.3991T>C (p.Cys1331Arg)
c.4018T>C (p.Cys1340Arg)
c.3700T>C (p.Cys1234Arg)
c.4003T>C (p.Cys1335Arg)
c.4000T>C (p.Cys1334Arg)
c.3709T>C (p.Cys1237Arg)
3g.38712256A>TCA352150911SCN10Ac.3994T>A (p.Cys1332Ser)
c.3991T>A (p.Cys1331Ser)
c.4018T>A (p.Cys1340Ser)
c.3700T>A (p.Cys1234Ser)
c.4003T>A (p.Cys1335Ser)
c.4000T>A (p.Cys1334Ser)
c.3709T>A (p.Cys1237Ser)
dbSNP
3g.38712257G>ACA433333871SCN10Ac.3993C>T (p.Asp1331=)
c.3990C>T (p.Asp1330=)
c.4017C>T (p.Asp1339=)
c.3699C>T (p.Asp1233=)
c.4002C>T (p.Asp1334=)
c.3999C>T (p.Asp1333=)
c.3708C>T (p.Asp1236=)
3g.38712257G>CCA352150914SCN10Ac.3993C>G (p.Asp1331Glu)
c.3990C>G (p.Asp1330Glu)
c.4017C>G (p.Asp1339Glu)
c.3699C>G (p.Asp1233Glu)
c.4002C>G (p.Asp1334Glu)
c.3999C>G (p.Asp1333Glu)
c.3708C>G (p.Asp1236Glu)
3g.38712257G>TCA352150916SCN10Ac.3993C>A (p.Asp1331Glu)
c.3990C>A (p.Asp1330Glu)
c.4017C>A (p.Asp1339Glu)
c.3699C>A (p.Asp1233Glu)
c.4002C>A (p.Asp1334Glu)
c.3999C>A (p.Asp1333Glu)
c.3708C>A (p.Asp1236Glu)
3g.38712258T>ACA352150919SCN10Ac.3992A>T (p.Asp1331Val)
c.3989A>T (p.Asp1330Val)
c.4016A>T (p.Asp1339Val)
c.3698A>T (p.Asp1233Val)
c.4001A>T (p.Asp1334Val)
c.3998A>T (p.Asp1333Val)
c.3707A>T (p.Asp1236Val)
3g.38712258T>CCA352150923SCN10Ac.3992A>G (p.Asp1331Gly)
c.3989A>G (p.Asp1330Gly)
c.4016A>G (p.Asp1339Gly)
c.3698A>G (p.Asp1233Gly)
c.4001A>G (p.Asp1334Gly)
c.3998A>G (p.Asp1333Gly)
c.3707A>G (p.Asp1236Gly)
3g.38712258T>GCA352150921SCN10Ac.3992A>C (p.Asp1331Ala)
c.3989A>C (p.Asp1330Ala)
c.4016A>C (p.Asp1339Ala)
c.3698A>C (p.Asp1233Ala)
c.4001A>C (p.Asp1334Ala)
c.3998A>C (p.Asp1333Ala)
c.3707A>C (p.Asp1236Ala)
3g.38712259C>ACA352150925SCN10Ac.3991G>T (p.Asp1331Tyr)
c.3988G>T (p.Asp1330Tyr)
c.4015G>T (p.Asp1339Tyr)
c.3697G>T (p.Asp1233Tyr)
c.4000G>T (p.Asp1334Tyr)
c.3997G>T (p.Asp1333Tyr)
c.3706G>T (p.Asp1236Tyr)
3g.38712259C=CA1358635429SCN10Ac.3991G= (p.Asp1331=)
c.3988G= (p.Asp1330=)
c.4015G= (p.Asp1339=)
c.3697G= (p.Asp1233=)
c.4000G= (p.Asp1334=)
c.3997G= (p.Asp1333=)
c.3706G= (p.Asp1236=)
3g.38712259C>GCA352150927SCN10Ac.3991G>C (p.Asp1331His)
c.3988G>C (p.Asp1330His)
c.4015G>C (p.Asp1339His)
c.3697G>C (p.Asp1233His)
c.4000G>C (p.Asp1334His)
c.3997G>C (p.Asp1333His)
c.3706G>C (p.Asp1236His)
3g.38712259C>TCA352150929SCN10Ac.3991G>A (p.Asp1331Asn)
c.3988G>A (p.Asp1330Asn)
c.4015G>A (p.Asp1339Asn)
c.3697G>A (p.Asp1233Asn)
c.4000G>A (p.Asp1334Asn)
c.3997G>A (p.Asp1333Asn)
c.3706G>A (p.Asp1236Asn)
ClinVar dbSNP
3g.38712260A=CA1358635432SCN10Ac.3990T= (p.Ser1330=)
c.3987T= (p.Ser1329=)
c.4014T= (p.Ser1338=)
c.3696T= (p.Ser1232=)
c.3999T= (p.Ser1333=)
c.3996T= (p.Ser1332=)
c.3705T= (p.Ser1235=)
3g.38712260A>CCA2320057SCN10Ac.3990T>G (p.Ser1330=)
c.3987T>G (p.Ser1329=)
c.4014T>G (p.Ser1338=)
c.3696T>G (p.Ser1232=)
c.3999T>G (p.Ser1333=)
c.3996T>G (p.Ser1332=)
c.3705T>G (p.Ser1235=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712260A>GCA433333873SCN10Ac.3990T>C (p.Ser1330=)
c.3987T>C (p.Ser1329=)
c.4014T>C (p.Ser1338=)
c.3696T>C (p.Ser1232=)
c.3999T>C (p.Ser1333=)
c.3996T>C (p.Ser1332=)
c.3705T>C (p.Ser1235=)
gnomAD v4
3g.38712260A>TCA433333874SCN10Ac.3990T>A (p.Ser1330=)
c.3987T>A (p.Ser1329=)
c.4014T>A (p.Ser1338=)
c.3696T>A (p.Ser1232=)
c.3999T>A (p.Ser1333=)
c.3996T>A (p.Ser1332=)
c.3705T>A (p.Ser1235=)
3g.38712261G>ACA72950455SCN10Ac.3989C>T (p.Ser1330Phe)
c.3986C>T (p.Ser1329Phe)
c.4013C>T (p.Ser1338Phe)
c.3695C>T (p.Ser1232Phe)
c.3998C>T (p.Ser1333Phe)
c.3995C>T (p.Ser1332Phe)
c.3704C>T (p.Ser1235Phe)
dbSNP
3g.38712261G>CCA352150935SCN10Ac.3989C>G (p.Ser1330Cys)
c.3986C>G (p.Ser1329Cys)
c.4013C>G (p.Ser1338Cys)
c.3695C>G (p.Ser1232Cys)
c.3998C>G (p.Ser1333Cys)
c.3995C>G (p.Ser1332Cys)
c.3704C>G (p.Ser1235Cys)
3g.38712261G=CA1358635436SCN10Ac.3989C= (p.Ser1330=)
c.3986C= (p.Ser1329=)
c.4013C= (p.Ser1338=)
c.3695C= (p.Ser1232=)
c.3998C= (p.Ser1333=)
c.3995C= (p.Ser1332=)
c.3704C= (p.Ser1235=)
3g.38712261G>TCA352150937SCN10Ac.3989C>A (p.Ser1330Tyr)
c.3986C>A (p.Ser1329Tyr)
c.4013C>A (p.Ser1338Tyr)
c.3695C>A (p.Ser1232Tyr)
c.3998C>A (p.Ser1333Tyr)
c.3995C>A (p.Ser1332Tyr)
c.3704C>A (p.Ser1235Tyr)
3g.38712262A=CA1358635441SCN10Ac.3988T= (p.Ser1330=)
c.3985T= (p.Ser1329=)
c.4012T= (p.Ser1338=)
c.3694T= (p.Ser1232=)
c.3997T= (p.Ser1333=)
c.3994T= (p.Ser1332=)
c.3703T= (p.Ser1235=)
3g.38712262A>CCA352150939SCN10Ac.3988T>G (p.Ser1330Ala)
c.3985T>G (p.Ser1329Ala)
c.4012T>G (p.Ser1338Ala)
c.3694T>G (p.Ser1232Ala)
c.3997T>G (p.Ser1333Ala)
c.3994T>G (p.Ser1332Ala)
c.3703T>G (p.Ser1235Ala)
3g.38712262A>GCA352150941SCN10Ac.3988T>C (p.Ser1330Pro)
c.3985T>C (p.Ser1329Pro)
c.4012T>C (p.Ser1338Pro)
c.3694T>C (p.Ser1232Pro)
c.3997T>C (p.Ser1333Pro)
c.3994T>C (p.Ser1332Pro)
c.3703T>C (p.Ser1235Pro)
3g.38712262A>TCA352150943SCN10Ac.3988T>A (p.Ser1330Thr)
c.3985T>A (p.Ser1329Thr)
c.4012T>A (p.Ser1338Thr)
c.3694T>A (p.Ser1232Thr)
c.3997T>A (p.Ser1333Thr)
c.3994T>A (p.Ser1332Thr)
c.3703T>A (p.Ser1235Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38712263C>ACA352150945SCN10Ac.3987G>T (p.Lys1329Asn)
c.3984G>T (p.Lys1328Asn)
c.4011G>T (p.Lys1337Asn)
c.3693G>T (p.Lys1231Asn)
c.3996G>T (p.Lys1332Asn)
c.3993G>T (p.Lys1331Asn)
c.3702G>T (p.Lys1234Asn)
3g.38712263C>GCA352150948SCN10Ac.3987G>C (p.Lys1329Asn)
c.3984G>C (p.Lys1328Asn)
c.4011G>C (p.Lys1337Asn)
c.3693G>C (p.Lys1231Asn)
c.3996G>C (p.Lys1332Asn)
c.3993G>C (p.Lys1331Asn)
c.3702G>C (p.Lys1234Asn)
3g.38712263C>TCA433333876SCN10Ac.3987G>A (p.Lys1329=)
c.3984G>A (p.Lys1328=)
c.4011G>A (p.Lys1337=)
c.3693G>A (p.Lys1231=)
c.3996G>A (p.Lys1332=)
c.3993G>A (p.Lys1331=)
c.3702G>A (p.Lys1234=)
dbSNP gnomAD v4
3g.38712264T>ACA352150954SCN10Ac.3986A>T (p.Lys1329Met)
c.3983A>T (p.Lys1328Met)
c.4010A>T (p.Lys1337Met)
c.3692A>T (p.Lys1231Met)
c.3995A>T (p.Lys1332Met)
c.3992A>T (p.Lys1331Met)
c.3701A>T (p.Lys1234Met)
3g.38712264T>CCA352150950SCN10Ac.3986A>G (p.Lys1329Arg)
c.3983A>G (p.Lys1328Arg)
c.4010A>G (p.Lys1337Arg)
c.3692A>G (p.Lys1231Arg)
c.3995A>G (p.Lys1332Arg)
c.3992A>G (p.Lys1331Arg)
c.3701A>G (p.Lys1234Arg)
3g.38712264T>GCA352150952SCN10Ac.3986A>C (p.Lys1329Thr)
c.3983A>C (p.Lys1328Thr)
c.4010A>C (p.Lys1337Thr)
c.3692A>C (p.Lys1231Thr)
c.3995A>C (p.Lys1332Thr)
c.3992A>C (p.Lys1331Thr)
c.3701A>C (p.Lys1234Thr)
3g.38712265T>ACA352150956SCN10Ac.3985A>T (p.Lys1329Ter)
c.3982A>T (p.Lys1328Ter)
c.4009A>T (p.Lys1337Ter)
c.3691A>T (p.Lys1231Ter)
c.3994A>T (p.Lys1332Ter)
c.3991A>T (p.Lys1331Ter)
c.3700A>T (p.Lys1234Ter)
3g.38712265T>CCA352150958SCN10Ac.3985A>G (p.Lys1329Glu)
c.3982A>G (p.Lys1328Glu)
c.4009A>G (p.Lys1337Glu)
c.3691A>G (p.Lys1231Glu)
c.3994A>G (p.Lys1332Glu)
c.3991A>G (p.Lys1331Glu)
c.3700A>G (p.Lys1234Glu)
3g.38712265T>GCA352150960SCN10Ac.3985A>C (p.Lys1329Gln)
c.3982A>C (p.Lys1328Gln)
c.4009A>C (p.Lys1337Gln)
c.3691A>C (p.Lys1231Gln)
c.3994A>C (p.Lys1332Gln)
c.3991A>C (p.Lys1331Gln)
c.3700A>C (p.Lys1234Gln)
3g.38712266G>ACA433333877SCN10Ac.3984C>T (p.Asn1328=)
c.3981C>T (p.Asn1327=)
c.4008C>T (p.Asn1336=)
c.3690C>T (p.Asn1230=)
c.3993C>T (p.Asn1331=)
c.3990C>T (p.Asn1330=)
c.3699C>T (p.Asn1233=)
3g.38712266G>CCA352150963SCN10Ac.3984C>G (p.Asn1328Lys)
c.3981C>G (p.Asn1327Lys)
c.4008C>G (p.Asn1336Lys)
c.3690C>G (p.Asn1230Lys)
c.3993C>G (p.Asn1331Lys)
c.3990C>G (p.Asn1330Lys)
c.3699C>G (p.Asn1233Lys)
3g.38712266G=CA1358635446SCN10Ac.3984C= (p.Asn1328=)
c.3981C= (p.Asn1327=)
c.4008C= (p.Asn1336=)
c.3690C= (p.Asn1230=)
c.3993C= (p.Asn1331=)
c.3990C= (p.Asn1330=)
c.3699C= (p.Asn1233=)
3g.38712266G>TCA352150965SCN10Ac.3984C>A (p.Asn1328Lys)
c.3981C>A (p.Asn1327Lys)
c.4008C>A (p.Asn1336Lys)
c.3690C>A (p.Asn1230Lys)
c.3993C>A (p.Asn1331Lys)
c.3990C>A (p.Asn1330Lys)
c.3699C>A (p.Asn1233Lys)
dbSNP gnomAD v4
3g.38712267T>ACA352150968SCN10Ac.3983A>T (p.Asn1328Ile)
c.3980A>T (p.Asn1327Ile)
c.4007A>T (p.Asn1336Ile)
c.3689A>T (p.Asn1230Ile)
c.3992A>T (p.Asn1331Ile)
c.3989A>T (p.Asn1330Ile)
c.3698A>T (p.Asn1233Ile)
3g.38712267T>CCA72950457SCN10Ac.3983A>G (p.Asn1328Ser)
c.3980A>G (p.Asn1327Ser)
c.4007A>G (p.Asn1336Ser)
c.3689A>G (p.Asn1230Ser)
c.3992A>G (p.Asn1331Ser)
c.3989A>G (p.Asn1330Ser)
c.3698A>G (p.Asn1233Ser)
dbSNP gnomAD v2 gnomAD v4
3g.38712267T>GCA352150971SCN10Ac.3983A>C (p.Asn1328Thr)
c.3980A>C (p.Asn1327Thr)
c.4007A>C (p.Asn1336Thr)
c.3689A>C (p.Asn1230Thr)
c.3992A>C (p.Asn1331Thr)
c.3989A>C (p.Asn1330Thr)
c.3698A>C (p.Asn1233Thr)
ClinVar dbSNP
3g.38712267T=CA1358635450SCN10Ac.3983A= (p.Asn1328=)
c.3980A= (p.Asn1327=)
c.4007A= (p.Asn1336=)
c.3689A= (p.Asn1230=)
c.3992A= (p.Asn1331=)
c.3989A= (p.Asn1330=)
c.3698A= (p.Asn1233=)
3g.38712268T>ACA352150974SCN10Ac.3982A>T (p.Asn1328Tyr)
c.3979A>T (p.Asn1327Tyr)
c.4006A>T (p.Asn1336Tyr)
c.3688A>T (p.Asn1230Tyr)
c.3991A>T (p.Asn1331Tyr)
c.3988A>T (p.Asn1330Tyr)
c.3697A>T (p.Asn1233Tyr)
3g.38712268T>CCA2320058SCN10Ac.3982A>G (p.Asn1328Asp)
c.3979A>G (p.Asn1327Asp)
c.4006A>G (p.Asn1336Asp)
c.3688A>G (p.Asn1230Asp)
c.3991A>G (p.Asn1331Asp)
c.3988A>G (p.Asn1330Asp)
c.3697A>G (p.Asn1233Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712268T>GCA352150976SCN10Ac.3982A>C (p.Asn1328His)
c.3979A>C (p.Asn1327His)
c.4006A>C (p.Asn1336His)
c.3688A>C (p.Asn1230His)
c.3991A>C (p.Asn1331His)
c.3988A>C (p.Asn1330His)
c.3697A>C (p.Asn1233His)
COSMIC
3g.38712268T=CA1358635453SCN10Ac.3982A= (p.Asn1328=)
c.3979A= (p.Asn1327=)
c.4006A= (p.Asn1336=)
c.3688A= (p.Asn1230=)
c.3991A= (p.Asn1331=)
c.3988A= (p.Asn1330=)
c.3697A= (p.Asn1233=)
3g.38712269A>CCA352150978SCN10Ac.3981T>G (p.Asn1327Lys)
c.3978T>G (p.Asn1326Lys)
c.4005T>G (p.Asn1335Lys)
c.3687T>G (p.Asn1229Lys)
c.3990T>G (p.Asn1330Lys)
c.3987T>G (p.Asn1329Lys)
c.3696T>G (p.Asn1232Lys)
gnomAD v4
3g.38712269A>GCA433333881SCN10Ac.3981T>C (p.Asn1327=)
c.3978T>C (p.Asn1326=)
c.4005T>C (p.Asn1335=)
c.3687T>C (p.Asn1229=)
c.3990T>C (p.Asn1330=)
c.3987T>C (p.Asn1329=)
c.3696T>C (p.Asn1232=)
gnomAD v4
3g.38712269A>TCA352150980SCN10Ac.3981T>A (p.Asn1327Lys)
c.3978T>A (p.Asn1326Lys)
c.4005T>A (p.Asn1335Lys)
c.3687T>A (p.Asn1229Lys)
c.3990T>A (p.Asn1330Lys)
c.3987T>A (p.Asn1329Lys)
c.3696T>A (p.Asn1232Lys)
gnomAD v4
3g.38712270T>ACA352150986SCN10Ac.3980A>T (p.Asn1327Ile)
c.3977A>T (p.Asn1326Ile)
c.4004A>T (p.Asn1335Ile)
c.3686A>T (p.Asn1229Ile)
c.3989A>T (p.Asn1330Ile)
c.3986A>T (p.Asn1329Ile)
c.3695A>T (p.Asn1232Ile)
3g.38712270T>CCA352150984SCN10Ac.3980A>G (p.Asn1327Ser)
c.3977A>G (p.Asn1326Ser)
c.4004A>G (p.Asn1335Ser)
c.3686A>G (p.Asn1229Ser)
c.3989A>G (p.Asn1330Ser)
c.3986A>G (p.Asn1329Ser)
c.3695A>G (p.Asn1232Ser)
3g.38712270T>GCA352150982SCN10Ac.3980A>C (p.Asn1327Thr)
c.3977A>C (p.Asn1326Thr)
c.4004A>C (p.Asn1335Thr)
c.3686A>C (p.Asn1229Thr)
c.3989A>C (p.Asn1330Thr)
c.3986A>C (p.Asn1329Thr)
c.3695A>C (p.Asn1232Thr)
3g.38712271T>ACA352150988SCN10Ac.3979A>T (p.Asn1327Tyr)
c.3976A>T (p.Asn1326Tyr)
c.4003A>T (p.Asn1335Tyr)
c.3685A>T (p.Asn1229Tyr)
c.3988A>T (p.Asn1330Tyr)
c.3985A>T (p.Asn1329Tyr)
c.3694A>T (p.Asn1232Tyr)
3g.38712271T>CCA352150990SCN10Ac.3979A>G (p.Asn1327Asp)
c.3976A>G (p.Asn1326Asp)
c.4003A>G (p.Asn1335Asp)
c.3685A>G (p.Asn1229Asp)
c.3988A>G (p.Asn1330Asp)
c.3985A>G (p.Asn1329Asp)
c.3694A>G (p.Asn1232Asp)
3g.38712271T>GCA352150992SCN10Ac.3979A>C (p.Asn1327His)
c.3976A>C (p.Asn1326His)
c.4003A>C (p.Asn1335His)
c.3685A>C (p.Asn1229His)
c.3988A>C (p.Asn1330His)
c.3985A>C (p.Asn1329His)
c.3694A>C (p.Asn1232His)
3g.38712272C>ACA433333883SCN10Ac.3978G>T (p.Val1326=)
c.3975G>T (p.Val1325=)
c.4002G>T (p.Val1334=)
c.3684G>T (p.Val1228=)
c.3987G>T (p.Val1329=)
c.3984G>T (p.Val1328=)
c.3693G>T (p.Val1231=)
3g.38712272C>GCA433333884SCN10Ac.3978G>C (p.Val1326=)
c.3975G>C (p.Val1325=)
c.4002G>C (p.Val1334=)
c.3684G>C (p.Val1228=)
c.3987G>C (p.Val1329=)
c.3984G>C (p.Val1328=)
c.3693G>C (p.Val1231=)
3g.38712272C>TCA433333885SCN10Ac.3978G>A (p.Val1326=)
c.3975G>A (p.Val1325=)
c.4002G>A (p.Val1334=)
c.3684G>A (p.Val1228=)
c.3987G>A (p.Val1329=)
c.3984G>A (p.Val1328=)
c.3693G>A (p.Val1231=)
COSMIC
3g.38712273A>CCA352150994SCN10Ac.3977T>G (p.Val1326Gly)
c.3974T>G (p.Val1325Gly)
c.4001T>G (p.Val1334Gly)
c.3683T>G (p.Val1228Gly)
c.3986T>G (p.Val1329Gly)
c.3983T>G (p.Val1328Gly)
c.3692T>G (p.Val1231Gly)
3g.38712273A>GCA352150996SCN10Ac.3977T>C (p.Val1326Ala)
c.3974T>C (p.Val1325Ala)
c.4001T>C (p.Val1334Ala)
c.3683T>C (p.Val1228Ala)
c.3986T>C (p.Val1329Ala)
c.3983T>C (p.Val1328Ala)
c.3692T>C (p.Val1231Ala)
3g.38712273A>TCA352150998SCN10Ac.3977T>A (p.Val1326Glu)
c.3974T>A (p.Val1325Glu)
c.4001T>A (p.Val1334Glu)
c.3683T>A (p.Val1228Glu)
c.3986T>A (p.Val1329Glu)
c.3983T>A (p.Val1328Glu)
c.3692T>A (p.Val1231Glu)
gnomAD v4
3g.38712274C>ACA352150999SCN10Ac.3976G>T (p.Val1326Leu)
c.3973G>T (p.Val1325Leu)
c.4000G>T (p.Val1334Leu)
c.3682G>T (p.Val1228Leu)
c.3985G>T (p.Val1329Leu)
c.3982G>T (p.Val1328Leu)
c.3691G>T (p.Val1231Leu)
3g.38712274C=CA1358635455SCN10Ac.3976G= (p.Val1326=)
c.3973G= (p.Val1325=)
c.4000G= (p.Val1334=)
c.3682G= (p.Val1228=)
c.3985G= (p.Val1329=)
c.3982G= (p.Val1328=)
c.3691G= (p.Val1231=)
3g.38712274C>GCA352151000SCN10Ac.3976G>C (p.Val1326Leu)
c.3973G>C (p.Val1325Leu)
c.4000G>C (p.Val1334Leu)
c.3682G>C (p.Val1228Leu)
c.3985G>C (p.Val1329Leu)
c.3982G>C (p.Val1328Leu)
c.3691G>C (p.Val1231Leu)
3g.38712274C>TCA72950463SCN10Ac.3976G>A (p.Val1326Met)
c.3973G>A (p.Val1325Met)
c.4000G>A (p.Val1334Met)
c.3682G>A (p.Val1228Met)
c.3985G>A (p.Val1329Met)
c.3982G>A (p.Val1328Met)
c.3691G>A (p.Val1231Met)
dbSNP
3g.38712275A>CCA352151003SCN10Ac.3975T>G (p.Ile1325Met)
c.3972T>G (p.Ile1324Met)
c.3999T>G (p.Ile1333Met)
c.3681T>G (p.Ile1227Met)
c.3984T>G (p.Ile1328Met)
c.3981T>G (p.Ile1327Met)
c.3690T>G (p.Ile1230Met)
3g.38712275A>GCA433333888SCN10Ac.3975T>C (p.Ile1325=)
c.3972T>C (p.Ile1324=)
c.3999T>C (p.Ile1333=)
c.3681T>C (p.Ile1227=)
c.3984T>C (p.Ile1328=)
c.3981T>C (p.Ile1327=)
c.3690T>C (p.Ile1230=)
gnomAD v4
3g.38712275A>TCA433333890SCN10Ac.3975T>A (p.Ile1325=)
c.3972T>A (p.Ile1324=)
c.3999T>A (p.Ile1333=)
c.3681T>A (p.Ile1227=)
c.3984T>A (p.Ile1328=)
c.3981T>A (p.Ile1327=)
c.3690T>A (p.Ile1230=)
3g.38712276A>CCA352151006SCN10Ac.3974T>G (p.Ile1325Ser)
c.3971T>G (p.Ile1324Ser)
c.3998T>G (p.Ile1333Ser)
c.3680T>G (p.Ile1227Ser)
c.3983T>G (p.Ile1328Ser)
c.3980T>G (p.Ile1327Ser)
c.3689T>G (p.Ile1230Ser)
3g.38712276A>GCA352151008SCN10Ac.3974T>C (p.Ile1325Thr)
c.3971T>C (p.Ile1324Thr)
c.3998T>C (p.Ile1333Thr)
c.3680T>C (p.Ile1227Thr)
c.3983T>C (p.Ile1328Thr)
c.3980T>C (p.Ile1327Thr)
c.3689T>C (p.Ile1230Thr)
gnomAD v4
3g.38712276A>TCA352151009SCN10Ac.3974T>A (p.Ile1325Asn)
c.3971T>A (p.Ile1324Asn)
c.3998T>A (p.Ile1333Asn)
c.3680T>A (p.Ile1227Asn)
c.3983T>A (p.Ile1328Asn)
c.3980T>A (p.Ile1327Asn)
c.3689T>A (p.Ile1230Asn)
3g.38712277T>ACA352151015SCN10Ac.3973A>T (p.Ile1325Phe)
c.3970A>T (p.Ile1324Phe)
c.3997A>T (p.Ile1333Phe)
c.3679A>T (p.Ile1227Phe)
c.3982A>T (p.Ile1328Phe)
c.3979A>T (p.Ile1327Phe)
c.3688A>T (p.Ile1230Phe)
gnomAD v4
3g.38712277T>CCA352151013SCN10Ac.3973A>G (p.Ile1325Val)
c.3970A>G (p.Ile1324Val)
c.3997A>G (p.Ile1333Val)
c.3679A>G (p.Ile1227Val)
c.3982A>G (p.Ile1328Val)
c.3979A>G (p.Ile1327Val)
c.3688A>G (p.Ile1230Val)
3g.38712277T>GCA352151011SCN10Ac.3973A>C (p.Ile1325Leu)
c.3970A>C (p.Ile1324Leu)
c.3997A>C (p.Ile1333Leu)
c.3679A>C (p.Ile1227Leu)
c.3982A>C (p.Ile1328Leu)
c.3979A>C (p.Ile1327Leu)
c.3688A>C (p.Ile1230Leu)
dbSNP gnomAD v4
3g.38712277T=CA1358635457SCN10Ac.3973A= (p.Ile1325=)
c.3970A= (p.Ile1324=)
c.3997A= (p.Ile1333=)
c.3679A= (p.Ile1227=)
c.3982A= (p.Ile1328=)
c.3979A= (p.Ile1327=)
c.3688A= (p.Ile1230=)
3g.38712278C>ACA433333891SCN10Ac.3972G>T (p.Ser1324=)
c.3969G>T (p.Ser1323=)
c.3996G>T (p.Ser1332=)
c.3678G>T (p.Ser1226=)
c.3981G>T (p.Ser1327=)
c.3978G>T (p.Ser1326=)
c.3687G>T (p.Ser1229=)
3g.38712278C=CA1358635461SCN10Ac.3972G= (p.Ser1324=)
c.3969G= (p.Ser1323=)
c.3996G= (p.Ser1332=)
c.3678G= (p.Ser1226=)
c.3981G= (p.Ser1327=)
c.3978G= (p.Ser1326=)
c.3687G= (p.Ser1229=)
3g.38712278C>GCA433333892SCN10Ac.3972G>C (p.Ser1324=)
c.3969G>C (p.Ser1323=)
c.3996G>C (p.Ser1332=)
c.3678G>C (p.Ser1226=)
c.3981G>C (p.Ser1327=)
c.3978G>C (p.Ser1326=)
c.3687G>C (p.Ser1229=)
3g.38712278C>TCA2320059SCN10Ac.3972G>A (p.Ser1324=)
c.3969G>A (p.Ser1323=)
c.3996G>A (p.Ser1332=)
c.3678G>A (p.Ser1226=)
c.3981G>A (p.Ser1327=)
c.3978G>A (p.Ser1326=)
c.3687G>A (p.Ser1229=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38712279G>ACA2320060SCN10Ac.3971C>T (p.Ser1324Leu)
c.3968C>T (p.Ser1323Leu)
c.3995C>T (p.Ser1332Leu)
c.3677C>T (p.Ser1226Leu)
c.3980C>T (p.Ser1327Leu)
c.3977C>T (p.Ser1326Leu)
c.3686C>T (p.Ser1229Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38712279G>CCA352151020SCN10Ac.3971C>G (p.Ser1324Trp)
c.3968C>G (p.Ser1323Trp)
c.3995C>G (p.Ser1332Trp)
c.3677C>G (p.Ser1226Trp)
c.3980C>G (p.Ser1327Trp)
c.3977C>G (p.Ser1326Trp)
c.3686C>G (p.Ser1229Trp)
3g.38712279G=CA1358635468SCN10Ac.3971C= (p.Ser1324=)
c.3968C= (p.Ser1323=)
c.3995C= (p.Ser1332=)
c.3677C= (p.Ser1226=)
c.3980C= (p.Ser1327=)
c.3977C= (p.Ser1326=)
c.3686C= (p.Ser1229=)
3g.38712279G>TCA352151022SCN10Ac.3971C>A (p.Ser1324Ter)
c.3968C>A (p.Ser1323Ter)
c.3995C>A (p.Ser1332Ter)
c.3677C>A (p.Ser1226Ter)
c.3980C>A (p.Ser1327Ter)
c.3977C>A (p.Ser1326Ter)
c.3686C>A (p.Ser1229Ter)
3g.38712280A>CCA352151025SCN10Ac.3970T>G (p.Ser1324Ala)
c.3967T>G (p.Ser1323Ala)
c.3994T>G (p.Ser1332Ala)
c.3676T>G (p.Ser1226Ala)
c.3979T>G (p.Ser1327Ala)
c.3976T>G (p.Ser1326Ala)
c.3685T>G (p.Ser1229Ala)
3g.38712280A>GCA352151026SCN10Ac.3970T>C (p.Ser1324Pro)
c.3967T>C (p.Ser1323Pro)
c.3994T>C (p.Ser1332Pro)
c.3676T>C (p.Ser1226Pro)
c.3979T>C (p.Ser1327Pro)
c.3976T>C (p.Ser1326Pro)
c.3685T>C (p.Ser1229Pro)
gnomAD v4
3g.38712280A>TCA352151028SCN10Ac.3970T>A (p.Ser1324Thr)
c.3967T>A (p.Ser1323Thr)
c.3994T>A (p.Ser1332Thr)
c.3676T>A (p.Ser1226Thr)
c.3979T>A (p.Ser1327Thr)
c.3976T>A (p.Ser1326Thr)
c.3685T>A (p.Ser1229Thr)
3g.38712281C>ACA352151029SCN10Ac.3969G>T (p.Leu1323Phe)
c.3966G>T (p.Leu1322Phe)
c.3993G>T (p.Leu1331Phe)
c.3675G>T (p.Leu1225Phe)
c.3978G>T (p.Leu1326Phe)
c.3975G>T (p.Leu1325Phe)
c.3684G>T (p.Leu1228Phe)
gnomAD v4
3g.38712281C=CA1358635474SCN10Ac.3969G= (p.Leu1323=)
c.3966G= (p.Leu1322=)
c.3993G= (p.Leu1331=)
c.3675G= (p.Leu1225=)
c.3978G= (p.Leu1326=)
c.3975G= (p.Leu1325=)
c.3684G= (p.Leu1228=)
3g.38712281C>GCA2320061SCN10Ac.3969G>C (p.Leu1323Phe)
c.3966G>C (p.Leu1322Phe)
c.3993G>C (p.Leu1331Phe)
c.3675G>C (p.Leu1225Phe)
c.3978G>C (p.Leu1326Phe)
c.3975G>C (p.Leu1325Phe)
c.3684G>C (p.Leu1228Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712281C>TCA433333894SCN10Ac.3969G>A (p.Leu1323=)
c.3966G>A (p.Leu1322=)
c.3993G>A (p.Leu1331=)
c.3675G>A (p.Leu1225=)
c.3978G>A (p.Leu1326=)
c.3975G>A (p.Leu1325=)
c.3684G>A (p.Leu1228=)
3g.38712282A=CA1358635476SCN10Ac.3968T= (p.Leu1323=)
c.3965T= (p.Leu1322=)
c.3992T= (p.Leu1331=)
c.3674T= (p.Leu1225=)
c.3977T= (p.Leu1326=)
c.3974T= (p.Leu1325=)
c.3683T= (p.Leu1228=)
3g.38712282A>CCA352151032SCN10Ac.3968T>G (p.Leu1323Trp)
c.3965T>G (p.Leu1322Trp)
c.3992T>G (p.Leu1331Trp)
c.3674T>G (p.Leu1225Trp)
c.3977T>G (p.Leu1326Trp)
c.3974T>G (p.Leu1325Trp)
c.3683T>G (p.Leu1228Trp)
3g.38712282A>GCA352151034SCN10Ac.3968T>C (p.Leu1323Ser)
c.3965T>C (p.Leu1322Ser)
c.3992T>C (p.Leu1331Ser)
c.3674T>C (p.Leu1225Ser)
c.3977T>C (p.Leu1326Ser)
c.3974T>C (p.Leu1325Ser)
c.3683T>C (p.Leu1228Ser)
dbSNP gnomAD v2 gnomAD v4
3g.38712282A>TCA352151036SCN10Ac.3968T>A (p.Leu1323Ter)
c.3965T>A (p.Leu1322Ter)
c.3992T>A (p.Leu1331Ter)
c.3674T>A (p.Leu1225Ter)
c.3977T>A (p.Leu1326Ter)
c.3974T>A (p.Leu1325Ter)
c.3683T>A (p.Leu1228Ter)
dbSNP
3g.38712284dupCA2665099527SCN10Ac.3968dup (p.Leu1323PhefsTer6)
c.3965dup (p.Leu1322PhefsTer6)
c.3992dup (p.Leu1331PhefsTer6)
c.3674dup (p.Leu1225PhefsTer6)
c.3977dup (p.Leu1326PhefsTer6)
c.3974dup (p.Leu1325PhefsTer6)
c.3683dup (p.Leu1228PhefsTer6)
gnomAD v4
3g.38712283A>CCA352151038SCN10Ac.3967T>G (p.Leu1323Val)
c.3964T>G (p.Leu1322Val)
c.3991T>G (p.Leu1331Val)
c.3673T>G (p.Leu1225Val)
c.3976T>G (p.Leu1326Val)
c.3973T>G (p.Leu1325Val)
c.3682T>G (p.Leu1228Val)
3g.38712283A>GCA433333895SCN10Ac.3967T>C (p.Leu1323=)
c.3964T>C (p.Leu1322=)
c.3991T>C (p.Leu1331=)
c.3673T>C (p.Leu1225=)
c.3976T>C (p.Leu1326=)
c.3973T>C (p.Leu1325=)
c.3682T>C (p.Leu1228=)
gnomAD v4
3g.38712283A>TCA352151040SCN10Ac.3967T>A (p.Leu1323Met)
c.3964T>A (p.Leu1322Met)
c.3991T>A (p.Leu1331Met)
c.3673T>A (p.Leu1225Met)
c.3976T>A (p.Leu1326Met)
c.3973T>A (p.Leu1325Met)
c.3682T>A (p.Leu1228Met)
3g.38712283_38712289delinsAAGGTACCA1358633312SCN10Ac.3961_3967delinsGTACCTT (p.Val1321=)
c.3958_3964delinsGTACCTT (p.Val1320=)
c.3985_3991delinsGTACCTT (p.Val1329=)
c.3667_3673delinsGTACCTT (p.Val1223=)
c.3970_3976delinsGTACCTT (p.Val1324=)
c.3967_3973delinsGTACCTT (p.Val1323=)
c.3676_3682delinsGTACCTT (p.Val1226=)
3g.38712284A>CCA433333899SCN10Ac.3966T>G (p.Pro1322=)
c.3963T>G (p.Pro1321=)
c.3990T>G (p.Pro1330=)
c.3672T>G (p.Pro1224=)
c.3975T>G (p.Pro1325=)
c.3972T>G (p.Pro1324=)
c.3681T>G (p.Pro1227=)
3g.38712284A>GCA433333900SCN10Ac.3966T>C (p.Pro1322=)
c.3963T>C (p.Pro1321=)
c.3990T>C (p.Pro1330=)
c.3672T>C (p.Pro1224=)
c.3975T>C (p.Pro1325=)
c.3972T>C (p.Pro1324=)
c.3681T>C (p.Pro1227=)
3g.38712284A>TCA433333901SCN10Ac.3966T>A (p.Pro1322=)
c.3963T>A (p.Pro1321=)
c.3990T>A (p.Pro1330=)
c.3672T>A (p.Pro1224=)
c.3975T>A (p.Pro1325=)
c.3972T>A (p.Pro1324=)
c.3681T>A (p.Pro1227=)
3g.38712285_38712290delCA542615804SCN10Ac.3961_3966del (p.Val1321_Pro1322del)
c.3958_3963del (p.Val1320_Pro1321del)
c.3985_3990del (p.Val1329_Pro1330del)
c.3667_3672del (p.Val1223_Pro1224del)
c.3970_3975del (p.Val1324_Pro1325del)
c.3967_3972del (p.Val1323_Pro1324del)
c.3676_3681del (p.Val1226_Pro1227del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38712285G>ACA352151044SCN10Ac.3965C>T (p.Pro1322Leu)
c.3962C>T (p.Pro1321Leu)
c.3989C>T (p.Pro1330Leu)
c.3671C>T (p.Pro1224Leu)
c.3974C>T (p.Pro1325Leu)
c.3971C>T (p.Pro1324Leu)
c.3680C>T (p.Pro1227Leu)
dbSNP gnomAD v3 gnomAD v4
3g.38712285G>CCA352151041SCN10Ac.3965C>G (p.Pro1322Arg)
c.3962C>G (p.Pro1321Arg)
c.3989C>G (p.Pro1330Arg)
c.3671C>G (p.Pro1224Arg)
c.3974C>G (p.Pro1325Arg)
c.3971C>G (p.Pro1324Arg)
c.3680C>G (p.Pro1227Arg)
3g.38712285G=CA1358633314SCN10Ac.3965C= (p.Pro1322=)
c.3962C= (p.Pro1321=)
c.3989C= (p.Pro1330=)
c.3671C= (p.Pro1224=)
c.3974C= (p.Pro1325=)
c.3971C= (p.Pro1324=)
c.3680C= (p.Pro1227=)
3g.38712285G>TCA352151042SCN10Ac.3965C>A (p.Pro1322His)
c.3962C>A (p.Pro1321His)
c.3989C>A (p.Pro1330His)
c.3671C>A (p.Pro1224His)
c.3974C>A (p.Pro1325His)
c.3971C>A (p.Pro1324His)
c.3680C>A (p.Pro1227His)
dbSNP gnomAD v2 gnomAD v4
3g.38712286delCA2665099543SCN10Ac.3965del (p.Pro1322LeufsTer5)
c.3962del (p.Pro1321LeufsTer5)
c.3989del (p.Pro1330LeufsTer5)
c.3671del (p.Pro1224LeufsTer5)
c.3974del (p.Pro1325LeufsTer5)
c.3971del (p.Pro1324LeufsTer5)
c.3680del (p.Pro1227LeufsTer5)
gnomAD v4
3g.38712286G>ACA72950474SCN10Ac.3964C>T (p.Pro1322Ser)
c.3961C>T (p.Pro1321Ser)
c.3988C>T (p.Pro1330Ser)
c.3670C>T (p.Pro1224Ser)
c.3973C>T (p.Pro1325Ser)
c.3970C>T (p.Pro1324Ser)
c.3679C>T (p.Pro1227Ser)
ClinVar dbSNP
3g.38712286G>CCA352151048SCN10Ac.3964C>G (p.Pro1322Ala)
c.3961C>G (p.Pro1321Ala)
c.3988C>G (p.Pro1330Ala)
c.3670C>G (p.Pro1224Ala)
c.3973C>G (p.Pro1325Ala)
c.3970C>G (p.Pro1324Ala)
c.3679C>G (p.Pro1227Ala)
ClinVar
3g.38712286G=CA1358633315SCN10Ac.3964C= (p.Pro1322=)
c.3961C= (p.Pro1321=)
c.3988C= (p.Pro1330=)
c.3670C= (p.Pro1224=)
c.3973C= (p.Pro1325=)
c.3970C= (p.Pro1324=)
c.3679C= (p.Pro1227=)
3g.38712286G>TCA352151050SCN10Ac.3964C>A (p.Pro1322Thr)
c.3961C>A (p.Pro1321Thr)
c.3988C>A (p.Pro1330Thr)
c.3670C>A (p.Pro1224Thr)
c.3973C>A (p.Pro1325Thr)
c.3970C>A (p.Pro1324Thr)
c.3679C>A (p.Pro1227Thr)
gnomAD v4
3g.38712287T>ACA433333903SCN10Ac.3963A>T (p.Val1321=)
c.3960A>T (p.Val1320=)
c.3987A>T (p.Val1329=)
c.3669A>T (p.Val1223=)
c.3972A>T (p.Val1324=)
c.3969A>T (p.Val1323=)
c.3678A>T (p.Val1226=)
3g.38712287T>CCA2320062SCN10Ac.3963A>G (p.Val1321=)
c.3960A>G (p.Val1320=)
c.3987A>G (p.Val1329=)
c.3669A>G (p.Val1223=)
c.3972A>G (p.Val1324=)
c.3969A>G (p.Val1323=)
c.3678A>G (p.Val1226=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712287T>GCA433333905SCN10Ac.3963A>C (p.Val1321=)
c.3960A>C (p.Val1320=)
c.3987A>C (p.Val1329=)
c.3669A>C (p.Val1223=)
c.3972A>C (p.Val1324=)
c.3969A>C (p.Val1323=)
c.3678A>C (p.Val1226=)
gnomAD v4
3g.38712287T=CA1358633316SCN10Ac.3963A= (p.Val1321=)
c.3960A= (p.Val1320=)
c.3987A= (p.Val1329=)
c.3669A= (p.Val1223=)
c.3972A= (p.Val1324=)
c.3969A= (p.Val1323=)
c.3678A= (p.Val1226=)
3g.38712288A>CCA352151054SCN10Ac.3962T>G (p.Val1321Gly)
c.3959T>G (p.Val1320Gly)
c.3986T>G (p.Val1329Gly)
c.3668T>G (p.Val1223Gly)
c.3971T>G (p.Val1324Gly)
c.3968T>G (p.Val1323Gly)
c.3677T>G (p.Val1226Gly)
3g.38712288A>GCA352151055SCN10Ac.3962T>C (p.Val1321Ala)
c.3959T>C (p.Val1320Ala)
c.3986T>C (p.Val1329Ala)
c.3668T>C (p.Val1223Ala)
c.3971T>C (p.Val1324Ala)
c.3968T>C (p.Val1323Ala)
c.3677T>C (p.Val1226Ala)
3g.38712288A>TCA352151057SCN10Ac.3962T>A (p.Val1321Glu)
c.3959T>A (p.Val1320Glu)
c.3986T>A (p.Val1329Glu)
c.3668T>A (p.Val1223Glu)
c.3971T>A (p.Val1324Glu)
c.3968T>A (p.Val1323Glu)
c.3677T>A (p.Val1226Glu)
3g.38712289C>ACA352151060SCN10Ac.3961G>T (p.Val1321Leu)
c.3958G>T (p.Val1320Leu)
c.3985G>T (p.Val1329Leu)
c.3667G>T (p.Val1223Leu)
c.3970G>T (p.Val1324Leu)
c.3967G>T (p.Val1323Leu)
c.3676G>T (p.Val1226Leu)
3g.38712289C>GCA352151062SCN10Ac.3961G>C (p.Val1321Leu)
c.3958G>C (p.Val1320Leu)
c.3985G>C (p.Val1329Leu)
c.3667G>C (p.Val1223Leu)
c.3970G>C (p.Val1324Leu)
c.3967G>C (p.Val1323Leu)
c.3676G>C (p.Val1226Leu)
3g.38712289C>TCA352151064SCN10Ac.3961G>A (p.Val1321Ile)
c.3958G>A (p.Val1320Ile)
c.3985G>A (p.Val1329Ile)
c.3667G>A (p.Val1223Ile)
c.3970G>A (p.Val1324Ile)
c.3967G>A (p.Val1323Ile)
c.3676G>A (p.Val1226Ile)
3g.38712290A>CCA433333906SCN10Ac.3960T>G (p.Leu1320=)
c.3957T>G (p.Leu1319=)
c.3984T>G (p.Leu1328=)
c.3666T>G (p.Leu1222=)
c.3969T>G (p.Leu1323=)
c.3966T>G (p.Leu1322=)
c.3675T>G (p.Leu1225=)
3g.38712290A>GCA433333907SCN10Ac.3960T>C (p.Leu1320=)
c.3957T>C (p.Leu1319=)
c.3984T>C (p.Leu1328=)
c.3666T>C (p.Leu1222=)
c.3969T>C (p.Leu1323=)
c.3966T>C (p.Leu1322=)
c.3675T>C (p.Leu1225=)
3g.38712290A>TCA433333908SCN10Ac.3960T>A (p.Leu1320=)
c.3957T>A (p.Leu1319=)
c.3984T>A (p.Leu1328=)
c.3666T>A (p.Leu1222=)
c.3969T>A (p.Leu1323=)
c.3966T>A (p.Leu1322=)
c.3675T>A (p.Leu1225=)
3g.38712291A>CCA352151066SCN10Ac.3959T>G (p.Leu1320Arg)
c.3956T>G (p.Leu1319Arg)
c.3983T>G (p.Leu1328Arg)
c.3665T>G (p.Leu1222Arg)
c.3968T>G (p.Leu1323Arg)
c.3965T>G (p.Leu1322Arg)
c.3674T>G (p.Leu1225Arg)
3g.38712291A>GCA352151069SCN10Ac.3959T>C (p.Leu1320Pro)
c.3956T>C (p.Leu1319Pro)
c.3983T>C (p.Leu1328Pro)
c.3665T>C (p.Leu1222Pro)
c.3968T>C (p.Leu1323Pro)
c.3965T>C (p.Leu1322Pro)
c.3674T>C (p.Leu1225Pro)
3g.38712291A>TCA352151071SCN10Ac.3959T>A (p.Leu1320His)
c.3956T>A (p.Leu1319His)
c.3983T>A (p.Leu1328His)
c.3665T>A (p.Leu1222His)
c.3968T>A (p.Leu1323His)
c.3965T>A (p.Leu1322His)
c.3674T>A (p.Leu1225His)
3g.38712292G>ACA2320063SCN10Ac.3958C>T (p.Leu1320Phe)
c.3955C>T (p.Leu1319Phe)
c.3982C>T (p.Leu1328Phe)
c.3664C>T (p.Leu1222Phe)
c.3967C>T (p.Leu1323Phe)
c.3964C>T (p.Leu1322Phe)
c.3673C>T (p.Leu1225Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712292G>CCA352151077SCN10Ac.3958C>G (p.Leu1320Val)
c.3955C>G (p.Leu1319Val)
c.3982C>G (p.Leu1328Val)
c.3664C>G (p.Leu1222Val)
c.3967C>G (p.Leu1323Val)
c.3964C>G (p.Leu1322Val)
c.3673C>G (p.Leu1225Val)
3g.38712292G=CA1358633317SCN10Ac.3958C= (p.Leu1320=)
c.3955C= (p.Leu1319=)
c.3982C= (p.Leu1328=)
c.3664C= (p.Leu1222=)
c.3967C= (p.Leu1323=)
c.3964C= (p.Leu1322=)
c.3673C= (p.Leu1225=)
3g.38712292G>TCA352151075SCN10Ac.3958C>A (p.Leu1320Ile)
c.3955C>A (p.Leu1319Ile)
c.3982C>A (p.Leu1328Ile)
c.3664C>A (p.Leu1222Ile)
c.3967C>A (p.Leu1323Ile)
c.3964C>A (p.Leu1322Ile)
c.3673C>A (p.Leu1225Ile)
3g.38712292_38712293insACA2561371691SCN10Ac.3957_3958insT (p.Leu1320SerfsTer9)
c.3954_3955insT (p.Leu1319SerfsTer9)
c.3981_3982insT (p.Leu1328SerfsTer9)
c.3663_3664insT (p.Leu1222SerfsTer9)
c.3966_3967insT (p.Leu1323SerfsTer9)
c.3963_3964insT (p.Leu1322SerfsTer9)
c.3672_3673insT (p.Leu1225SerfsTer9)
3g.38712293G>ACA2320064SCN10Ac.3957C>T (p.Ser1319=)
c.3954C>T (p.Ser1318=)
c.3981C>T (p.Ser1327=)
c.3663C>T (p.Ser1221=)
c.3966C>T (p.Ser1322=)
c.3963C>T (p.Ser1321=)
c.3672C>T (p.Ser1224=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712293G>CCA433333910SCN10Ac.3957C>G (p.Ser1319=)
c.3954C>G (p.Ser1318=)
c.3981C>G (p.Ser1327=)
c.3663C>G (p.Ser1221=)
c.3966C>G (p.Ser1322=)
c.3963C>G (p.Ser1321=)
c.3672C>G (p.Ser1224=)
3g.38712293G=CA1358633318SCN10Ac.3957C= (p.Ser1319=)
c.3954C= (p.Ser1318=)
c.3981C= (p.Ser1327=)
c.3663C= (p.Ser1221=)
c.3966C= (p.Ser1322=)
c.3963C= (p.Ser1321=)
c.3672C= (p.Ser1224=)
3g.38712293G>TCA433333911SCN10Ac.3957C>A (p.Ser1319=)
c.3954C>A (p.Ser1318=)
c.3981C>A (p.Ser1327=)
c.3663C>A (p.Ser1221=)
c.3966C>A (p.Ser1322=)
c.3963C>A (p.Ser1321=)
c.3672C>A (p.Ser1224=)
gnomAD v4
3g.38712294G>ACA352151081SCN10Ac.3956C>T (p.Ser1319Phe)
c.3953C>T (p.Ser1318Phe)
c.3980C>T (p.Ser1327Phe)
c.3662C>T (p.Ser1221Phe)
c.3965C>T (p.Ser1322Phe)
c.3962C>T (p.Ser1321Phe)
c.3671C>T (p.Ser1224Phe)
COSMIC
3g.38712294G>CCA2320065SCN10Ac.3956C>G (p.Ser1319Cys)
c.3953C>G (p.Ser1318Cys)
c.3980C>G (p.Ser1327Cys)
c.3662C>G (p.Ser1221Cys)
c.3965C>G (p.Ser1322Cys)
c.3962C>G (p.Ser1321Cys)
c.3671C>G (p.Ser1224Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712294G=CA1358633319SCN10Ac.3956C= (p.Ser1319=)
c.3953C= (p.Ser1318=)
c.3980C= (p.Ser1327=)
c.3662C= (p.Ser1221=)
c.3965C= (p.Ser1322=)
c.3962C= (p.Ser1321=)
c.3671C= (p.Ser1224=)
3g.38712294G>TCA352151084SCN10Ac.3956C>A (p.Ser1319Tyr)
c.3953C>A (p.Ser1318Tyr)
c.3980C>A (p.Ser1327Tyr)
c.3662C>A (p.Ser1221Tyr)
c.3965C>A (p.Ser1322Tyr)
c.3962C>A (p.Ser1321Tyr)
c.3671C>A (p.Ser1224Tyr)
3g.38712295A=CA1358633320SCN10Ac.3955T= (p.Ser1319=)
c.3952T= (p.Ser1318=)
c.3979T= (p.Ser1327=)
c.3661T= (p.Ser1221=)
c.3964T= (p.Ser1322=)
c.3961T= (p.Ser1321=)
c.3670T= (p.Ser1224=)
3g.38712295A>CCA352151087SCN10Ac.3955T>G (p.Ser1319Ala)
c.3952T>G (p.Ser1318Ala)
c.3979T>G (p.Ser1327Ala)
c.3661T>G (p.Ser1221Ala)
c.3964T>G (p.Ser1322Ala)
c.3961T>G (p.Ser1321Ala)
c.3670T>G (p.Ser1224Ala)
3g.38712295A>GCA2320066SCN10Ac.3955T>C (p.Ser1319Pro)
c.3952T>C (p.Ser1318Pro)
c.3979T>C (p.Ser1327Pro)
c.3661T>C (p.Ser1221Pro)
c.3964T>C (p.Ser1322Pro)
c.3961T>C (p.Ser1321Pro)
c.3670T>C (p.Ser1224Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712295A>TCA352151088SCN10Ac.3955T>A (p.Ser1319Thr)
c.3952T>A (p.Ser1318Thr)
c.3979T>A (p.Ser1327Thr)
c.3661T>A (p.Ser1221Thr)
c.3964T>A (p.Ser1322Thr)
c.3961T>A (p.Ser1321Thr)
c.3670T>A (p.Ser1224Thr)
3g.38712298delCA2665099579SCN10Ac.3955del (p.Ser1319ProfsTer8)
c.3952del (p.Ser1318ProfsTer8)
c.3979del (p.Ser1327ProfsTer8)
c.3661del (p.Ser1221ProfsTer8)
c.3964del (p.Ser1322ProfsTer8)
c.3961del (p.Ser1321ProfsTer8)
c.3670del (p.Ser1224ProfsTer8)
gnomAD v4
3g.38712296A=CA1358633321SCN10Ac.3954T= (p.Phe1318=)
c.3951T= (p.Phe1317=)
c.3978T= (p.Phe1326=)
c.3660T= (p.Phe1220=)
c.3963T= (p.Phe1321=)
c.3960T= (p.Phe1320=)
c.3669T= (p.Phe1223=)
3g.38712296A>CCA352151089SCN10Ac.3954T>G (p.Phe1318Leu)
c.3951T>G (p.Phe1317Leu)
c.3978T>G (p.Phe1326Leu)
c.3660T>G (p.Phe1220Leu)
c.3963T>G (p.Phe1321Leu)
c.3960T>G (p.Phe1320Leu)
c.3669T>G (p.Phe1223Leu)
gnomAD v4
3g.38712296A>GCA2320067SCN10Ac.3954T>C (p.Phe1318=)
c.3951T>C (p.Phe1317=)
c.3978T>C (p.Phe1326=)
c.3660T>C (p.Phe1220=)
c.3963T>C (p.Phe1321=)
c.3960T>C (p.Phe1320=)
c.3669T>C (p.Phe1223=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712296A>TCA352151090SCN10Ac.3954T>A (p.Phe1318Leu)
c.3951T>A (p.Phe1317Leu)
c.3978T>A (p.Phe1326Leu)
c.3660T>A (p.Phe1220Leu)
c.3963T>A (p.Phe1321Leu)
c.3960T>A (p.Phe1320Leu)
c.3669T>A (p.Phe1223Leu)
gnomAD v4
3g.38712297A>CCA352151091SCN10Ac.3953T>G (p.Phe1318Cys)
c.3950T>G (p.Phe1317Cys)
c.3977T>G (p.Phe1326Cys)
c.3659T>G (p.Phe1220Cys)
c.3962T>G (p.Phe1321Cys)
c.3959T>G (p.Phe1320Cys)
c.3668T>G (p.Phe1223Cys)
3g.38712297A>GCA352151092SCN10Ac.3953T>C (p.Phe1318Ser)
c.3950T>C (p.Phe1317Ser)
c.3977T>C (p.Phe1326Ser)
c.3659T>C (p.Phe1220Ser)
c.3962T>C (p.Phe1321Ser)
c.3959T>C (p.Phe1320Ser)
c.3668T>C (p.Phe1223Ser)
gnomAD v4
3g.38712297A>TCA352151093SCN10Ac.3953T>A (p.Phe1318Tyr)
c.3950T>A (p.Phe1317Tyr)
c.3977T>A (p.Phe1326Tyr)
c.3659T>A (p.Phe1220Tyr)
c.3962T>A (p.Phe1321Tyr)
c.3959T>A (p.Phe1320Tyr)
c.3668T>A (p.Phe1223Tyr)
3g.38712298A>CCA352151096SCN10Ac.3952T>G (p.Phe1318Val)
c.3949T>G (p.Phe1317Val)
c.3976T>G (p.Phe1326Val)
c.3658T>G (p.Phe1220Val)
c.3961T>G (p.Phe1321Val)
c.3958T>G (p.Phe1320Val)
c.3667T>G (p.Phe1223Val)
3g.38712298A>GCA352151094SCN10Ac.3952T>C (p.Phe1318Leu)
c.3949T>C (p.Phe1317Leu)
c.3976T>C (p.Phe1326Leu)
c.3658T>C (p.Phe1220Leu)
c.3961T>C (p.Phe1321Leu)
c.3958T>C (p.Phe1320Leu)
c.3667T>C (p.Phe1223Leu)
3g.38712298A>TCA352151095SCN10Ac.3952T>A (p.Phe1318Ile)
c.3949T>A (p.Phe1317Ile)
c.3976T>A (p.Phe1326Ile)
c.3658T>A (p.Phe1220Ile)
c.3961T>A (p.Phe1321Ile)
c.3958T>A (p.Phe1320Ile)
c.3667T>A (p.Phe1223Ile)
3g.38712299C>ACA352151097SCN10Ac.3951G>T (p.Glu1317Asp)
c.3948G>T (p.Glu1316Asp)
c.3975G>T (p.Glu1325Asp)
c.3657G>T (p.Glu1219Asp)
c.3960G>T (p.Glu1320Asp)
c.3957G>T (p.Glu1319Asp)
c.3666G>T (p.Glu1222Asp)
3g.38712299C>GCA352151098SCN10Ac.3951G>C (p.Glu1317Asp)
c.3948G>C (p.Glu1316Asp)
c.3975G>C (p.Glu1325Asp)
c.3657G>C (p.Glu1219Asp)
c.3960G>C (p.Glu1320Asp)
c.3957G>C (p.Glu1319Asp)
c.3666G>C (p.Glu1222Asp)
gnomAD v4
3g.38712299C>TCA433333915SCN10Ac.3951G>A (p.Glu1317=)
c.3948G>A (p.Glu1316=)
c.3975G>A (p.Glu1325=)
c.3657G>A (p.Glu1219=)
c.3960G>A (p.Glu1320=)
c.3957G>A (p.Glu1319=)
c.3666G>A (p.Glu1222=)
gnomAD v4
3g.38712300delCA2538398113SCN10Ac.3950del (p.Glu1317GlyfsTer10)
c.3947del (p.Glu1316GlyfsTer10)
c.3974del (p.Glu1325GlyfsTer10)
c.3656del (p.Glu1219GlyfsTer10)
c.3959del (p.Glu1320GlyfsTer10)
c.3956del (p.Glu1319GlyfsTer10)
c.3665del (p.Glu1222GlyfsTer10)
3g.38712300T>ACA352151099SCN10Ac.3950A>T (p.Glu1317Val)
c.3947A>T (p.Glu1316Val)
c.3974A>T (p.Glu1325Val)
c.3656A>T (p.Glu1219Val)
c.3959A>T (p.Glu1320Val)
c.3956A>T (p.Glu1319Val)
c.3665A>T (p.Glu1222Val)
3g.38712300T>CCA352151100SCN10Ac.3950A>G (p.Glu1317Gly)
c.3947A>G (p.Glu1316Gly)
c.3974A>G (p.Glu1325Gly)
c.3656A>G (p.Glu1219Gly)
c.3959A>G (p.Glu1320Gly)
c.3956A>G (p.Glu1319Gly)
c.3665A>G (p.Glu1222Gly)
3g.38712300T>GCA352151101SCN10Ac.3950A>C (p.Glu1317Ala)
c.3947A>C (p.Glu1316Ala)
c.3974A>C (p.Glu1325Ala)
c.3656A>C (p.Glu1219Ala)
c.3959A>C (p.Glu1320Ala)
c.3956A>C (p.Glu1319Ala)
c.3665A>C (p.Glu1222Ala)
3g.38712301C>ACA352151102SCN10Ac.3949G>T (p.Glu1317Ter)
c.3946G>T (p.Glu1316Ter)
c.3973G>T (p.Glu1325Ter)
c.3655G>T (p.Glu1219Ter)
c.3958G>T (p.Glu1320Ter)
c.3955G>T (p.Glu1319Ter)
c.3664G>T (p.Glu1222Ter)
ClinVar dbSNP
3g.38712301C>GCA352151103SCN10Ac.3949G>C (p.Glu1317Gln)
c.3946G>C (p.Glu1316Gln)
c.3973G>C (p.Glu1325Gln)
c.3655G>C (p.Glu1219Gln)
c.3958G>C (p.Glu1320Gln)
c.3955G>C (p.Glu1319Gln)
c.3664G>C (p.Glu1222Gln)
3g.38712301C>TCA352151104SCN10Ac.3949G>A (p.Glu1317Lys)
c.3946G>A (p.Glu1316Lys)
c.3973G>A (p.Glu1325Lys)
c.3655G>A (p.Glu1219Lys)
c.3958G>A (p.Glu1320Lys)
c.3955G>A (p.Glu1319Lys)
c.3664G>A (p.Glu1222Lys)
3g.38712302T>ACA433333919SCN10Ac.3948A>T (p.Gly1316=)
c.3945A>T (p.Gly1315=)
c.3972A>T (p.Gly1324=)
c.3654A>T (p.Gly1218=)
c.3957A>T (p.Gly1319=)
c.3954A>T (p.Gly1318=)
c.3663A>T (p.Gly1221=)
3g.38712302T>CCA433333920SCN10Ac.3948A>G (p.Gly1316=)
c.3945A>G (p.Gly1315=)
c.3972A>G (p.Gly1324=)
c.3654A>G (p.Gly1218=)
c.3957A>G (p.Gly1319=)
c.3954A>G (p.Gly1318=)
c.3663A>G (p.Gly1221=)
3g.38712302T>GCA433333921SCN10Ac.3948A>C (p.Gly1316=)
c.3945A>C (p.Gly1315=)
c.3972A>C (p.Gly1324=)
c.3654A>C (p.Gly1218=)
c.3957A>C (p.Gly1319=)
c.3954A>C (p.Gly1318=)
c.3663A>C (p.Gly1221=)
3g.38712303C>ACA352151105SCN10Ac.3947G>T (p.Gly1316Val)
c.3944G>T (p.Gly1315Val)
c.3971G>T (p.Gly1324Val)
c.3653G>T (p.Gly1218Val)
c.3956G>T (p.Gly1319Val)
c.3953G>T (p.Gly1318Val)
c.3662G>T (p.Gly1221Val)
gnomAD v4
3g.38712303C>GCA352151106SCN10Ac.3947G>C (p.Gly1316Ala)
c.3944G>C (p.Gly1315Ala)
c.3971G>C (p.Gly1324Ala)
c.3653G>C (p.Gly1218Ala)
c.3956G>C (p.Gly1319Ala)
c.3953G>C (p.Gly1318Ala)
c.3662G>C (p.Gly1221Ala)
3g.38712303C>TCA352151107SCN10Ac.3947G>A (p.Gly1316Glu)
c.3944G>A (p.Gly1315Glu)
c.3971G>A (p.Gly1324Glu)
c.3653G>A (p.Gly1218Glu)
c.3956G>A (p.Gly1319Glu)
c.3953G>A (p.Gly1318Glu)
c.3662G>A (p.Gly1221Glu)
3g.38712304C>ACA352151108SCN10Ac.3946G>T (p.Gly1316Ter)
c.3943G>T (p.Gly1315Ter)
c.3970G>T (p.Gly1324Ter)
c.3652G>T (p.Gly1218Ter)
c.3955G>T (p.Gly1319Ter)
c.3952G>T (p.Gly1318Ter)
c.3661G>T (p.Gly1221Ter)
dbSNP
3g.38712304C=CA1358633322SCN10Ac.3946G= (p.Gly1316=)
c.3943G= (p.Gly1315=)
c.3970G= (p.Gly1324=)
c.3652G= (p.Gly1218=)
c.3955G= (p.Gly1319=)
c.3952G= (p.Gly1318=)
c.3661G= (p.Gly1221=)
3g.38712304C>GCA352151109SCN10Ac.3946G>C (p.Gly1316Arg)
c.3943G>C (p.Gly1315Arg)
c.3970G>C (p.Gly1324Arg)
c.3652G>C (p.Gly1218Arg)
c.3955G>C (p.Gly1319Arg)
c.3952G>C (p.Gly1318Arg)
c.3661G>C (p.Gly1221Arg)
3g.38712304C>TCA72950495SCN10Ac.3946G>A (p.Gly1316Arg)
c.3943G>A (p.Gly1315Arg)
c.3970G>A (p.Gly1324Arg)
c.3652G>A (p.Gly1218Arg)
c.3955G>A (p.Gly1319Arg)
c.3952G>A (p.Gly1318Arg)
c.3661G>A (p.Gly1221Arg)
dbSNP
3g.38712305A=CA1358633323SCN10Ac.3945T= (p.Asp1315=)
c.3942T= (p.Asp1314=)
c.3969T= (p.Asp1323=)
c.3651T= (p.Asp1217=)
c.3954T= (p.Asp1318=)
c.3951T= (p.Asp1317=)
c.3660T= (p.Asp1220=)
3g.38712305A>CCA352151110SCN10Ac.3945T>G (p.Asp1315Glu)
c.3942T>G (p.Asp1314Glu)
c.3969T>G (p.Asp1323Glu)
c.3651T>G (p.Asp1217Glu)
c.3954T>G (p.Asp1318Glu)
c.3951T>G (p.Asp1317Glu)
c.3660T>G (p.Asp1220Glu)
3g.38712305A>GCA72950497SCN10Ac.3945T>C (p.Asp1315=)
c.3942T>C (p.Asp1314=)
c.3969T>C (p.Asp1323=)
c.3651T>C (p.Asp1217=)
c.3954T>C (p.Asp1318=)
c.3951T>C (p.Asp1317=)
c.3660T>C (p.Asp1220=)
dbSNP COSMIC
3g.38712305A>TCA352151111SCN10Ac.3945T>A (p.Asp1315Glu)
c.3942T>A (p.Asp1314Glu)
c.3969T>A (p.Asp1323Glu)
c.3651T>A (p.Asp1217Glu)
c.3954T>A (p.Asp1318Glu)
c.3951T>A (p.Asp1317Glu)
c.3660T>A (p.Asp1220Glu)
3g.38712306T>ACA352151112SCN10Ac.3944A>T (p.Asp1315Val)
c.3941A>T (p.Asp1314Val)
c.3968A>T (p.Asp1323Val)
c.3650A>T (p.Asp1217Val)
c.3953A>T (p.Asp1318Val)
c.3950A>T (p.Asp1317Val)
c.3659A>T (p.Asp1220Val)
3g.38712306T>CCA352151114SCN10Ac.3944A>G (p.Asp1315Gly)
c.3941A>G (p.Asp1314Gly)
c.3968A>G (p.Asp1323Gly)
c.3650A>G (p.Asp1217Gly)
c.3953A>G (p.Asp1318Gly)
c.3950A>G (p.Asp1317Gly)
c.3659A>G (p.Asp1220Gly)
gnomAD v4
3g.38712306T>GCA352151113SCN10Ac.3944A>C (p.Asp1315Ala)
c.3941A>C (p.Asp1314Ala)
c.3968A>C (p.Asp1323Ala)
c.3650A>C (p.Asp1217Ala)
c.3953A>C (p.Asp1318Ala)
c.3950A>C (p.Asp1317Ala)
c.3659A>C (p.Asp1220Ala)
3g.38712307C>ACA352151115SCN10Ac.3943G>T (p.Asp1315Tyr)
c.3940G>T (p.Asp1314Tyr)
c.3967G>T (p.Asp1323Tyr)
c.3649G>T (p.Asp1217Tyr)
c.3952G>T (p.Asp1318Tyr)
c.3949G>T (p.Asp1317Tyr)
c.3658G>T (p.Asp1220Tyr)
dbSNP gnomAD v4
3g.38712307C=CA1358633325SCN10Ac.3943G= (p.Asp1315=)
c.3940G= (p.Asp1314=)
c.3967G= (p.Asp1323=)
c.3649G= (p.Asp1217=)
c.3952G= (p.Asp1318=)
c.3949G= (p.Asp1317=)
c.3658G= (p.Asp1220=)
3g.38712307C>GCA352151116SCN10Ac.3943G>C (p.Asp1315His)
c.3940G>C (p.Asp1314His)
c.3967G>C (p.Asp1323His)
c.3649G>C (p.Asp1217His)
c.3952G>C (p.Asp1318His)
c.3949G>C (p.Asp1317His)
c.3658G>C (p.Asp1220His)
3g.38712307C>TCA2320068SCN10Ac.3943G>A (p.Asp1315Asn)
c.3940G>A (p.Asp1314Asn)
c.3967G>A (p.Asp1323Asn)
c.3649G>A (p.Asp1217Asn)
c.3952G>A (p.Asp1318Asn)
c.3949G>A (p.Asp1317Asn)
c.3658G>A (p.Asp1220Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38712308G>ACA2320069SCN10Ac.3942C>T (p.Thr1314=)
c.3939C>T (p.Thr1313=)
c.3966C>T (p.Thr1322=)
c.3648C>T (p.Thr1216=)
c.3951C>T (p.Thr1317=)
c.3948C>T (p.Thr1316=)
c.3657C>T (p.Thr1219=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712308G>CCA433333925SCN10Ac.3942C>G (p.Thr1314=)
c.3939C>G (p.Thr1313=)
c.3966C>G (p.Thr1322=)
c.3648C>G (p.Thr1216=)
c.3951C>G (p.Thr1317=)
c.3948C>G (p.Thr1316=)
c.3657C>G (p.Thr1219=)
ClinVar gnomAD v4
3g.38712308G=CA1358633332SCN10Ac.3942C= (p.Thr1314=)
c.3939C= (p.Thr1313=)
c.3966C= (p.Thr1322=)
c.3648C= (p.Thr1216=)
c.3951C= (p.Thr1317=)
c.3948C= (p.Thr1316=)
c.3657C= (p.Thr1219=)
3g.38712308G>TCA433333926SCN10Ac.3942C>A (p.Thr1314=)
c.3939C>A (p.Thr1313=)
c.3966C>A (p.Thr1322=)
c.3648C>A (p.Thr1216=)
c.3951C>A (p.Thr1317=)
c.3948C>A (p.Thr1316=)
c.3657C>A (p.Thr1219=)
dbSNP gnomAD v2 gnomAD v4
3g.38712309G>ACA352151117SCN10Ac.3941C>T (p.Thr1314Ile)
c.3938C>T (p.Thr1313Ile)
c.3965C>T (p.Thr1322Ile)
c.3647C>T (p.Thr1216Ile)
c.3950C>T (p.Thr1317Ile)
c.3947C>T (p.Thr1316Ile)
c.3656C>T (p.Thr1219Ile)
dbSNP
3g.38712309G>CCA352151118SCN10Ac.3941C>G (p.Thr1314Ser)
c.3938C>G (p.Thr1313Ser)
c.3965C>G (p.Thr1322Ser)
c.3647C>G (p.Thr1216Ser)
c.3950C>G (p.Thr1317Ser)
c.3947C>G (p.Thr1316Ser)
c.3656C>G (p.Thr1219Ser)
3g.38712309G=CA1358633336SCN10Ac.3941C= (p.Thr1314=)
c.3938C= (p.Thr1313=)
c.3965C= (p.Thr1322=)
c.3647C= (p.Thr1216=)
c.3950C= (p.Thr1317=)
c.3947C= (p.Thr1316=)
c.3656C= (p.Thr1219=)
3g.38712309G>TCA352151119SCN10Ac.3941C>A (p.Thr1314Asn)
c.3938C>A (p.Thr1313Asn)
c.3965C>A (p.Thr1322Asn)
c.3647C>A (p.Thr1216Asn)
c.3950C>A (p.Thr1317Asn)
c.3947C>A (p.Thr1316Asn)
c.3656C>A (p.Thr1219Asn)
gnomAD v4
3g.38712310T>ACA352151120SCN10Ac.3940A>T (p.Thr1314Ser)
c.3937A>T (p.Thr1313Ser)
c.3964A>T (p.Thr1322Ser)
c.3646A>T (p.Thr1216Ser)
c.3949A>T (p.Thr1317Ser)
c.3946A>T (p.Thr1316Ser)
c.3655A>T (p.Thr1219Ser)
3g.38712310T>CCA352151121SCN10Ac.3940A>G (p.Thr1314Ala)
c.3937A>G (p.Thr1313Ala)
c.3964A>G (p.Thr1322Ala)
c.3646A>G (p.Thr1216Ala)
c.3949A>G (p.Thr1317Ala)
c.3946A>G (p.Thr1316Ala)
c.3655A>G (p.Thr1219Ala)
3g.38712310T>GCA352151122SCN10Ac.3940A>C (p.Thr1314Pro)
c.3937A>C (p.Thr1313Pro)
c.3964A>C (p.Thr1322Pro)
c.3646A>C (p.Thr1216Pro)
c.3949A>C (p.Thr1317Pro)
c.3946A>C (p.Thr1316Pro)
c.3655A>C (p.Thr1219Pro)
3g.38712311A>CCA352151124SCN10Ac.3939T>G (p.Tyr1313Ter)
c.3936T>G (p.Tyr1312Ter)
c.3963T>G (p.Tyr1321Ter)
c.3645T>G (p.Tyr1215Ter)
c.3948T>G (p.Tyr1316Ter)
c.3945T>G (p.Tyr1315Ter)
c.3654T>G (p.Tyr1218Ter)
3g.38712311A>GCA433333928SCN10Ac.3939T>C (p.Tyr1313=)
c.3936T>C (p.Tyr1312=)
c.3963T>C (p.Tyr1321=)
c.3645T>C (p.Tyr1215=)
c.3948T>C (p.Tyr1316=)
c.3945T>C (p.Tyr1315=)
c.3654T>C (p.Tyr1218=)
gnomAD v4
3g.38712311A>TCA352151123SCN10Ac.3939T>A (p.Tyr1313Ter)
c.3936T>A (p.Tyr1312Ter)
c.3963T>A (p.Tyr1321Ter)
c.3645T>A (p.Tyr1215Ter)
c.3948T>A (p.Tyr1316Ter)
c.3945T>A (p.Tyr1315Ter)
c.3654T>A (p.Tyr1218Ter)
3g.38712312T>ACA352151125SCN10Ac.3938A>T (p.Tyr1313Phe)
c.3935A>T (p.Tyr1312Phe)
c.3962A>T (p.Tyr1321Phe)
c.3644A>T (p.Tyr1215Phe)
c.3947A>T (p.Tyr1316Phe)
c.3944A>T (p.Tyr1315Phe)
c.3653A>T (p.Tyr1218Phe)
3g.38712312T>CCA352151126SCN10Ac.3938A>G (p.Tyr1313Cys)
c.3935A>G (p.Tyr1312Cys)
c.3962A>G (p.Tyr1321Cys)
c.3644A>G (p.Tyr1215Cys)
c.3947A>G (p.Tyr1316Cys)
c.3944A>G (p.Tyr1315Cys)
c.3653A>G (p.Tyr1218Cys)
ClinVar dbSNP gnomAD v4
3g.38712312T>GCA352151127SCN10Ac.3938A>C (p.Tyr1313Ser)
c.3935A>C (p.Tyr1312Ser)
c.3962A>C (p.Tyr1321Ser)
c.3644A>C (p.Tyr1215Ser)
c.3947A>C (p.Tyr1316Ser)
c.3944A>C (p.Tyr1315Ser)
c.3653A>C (p.Tyr1218Ser)
dbSNP
3g.38712312T=CA1358633338SCN10Ac.3938A= (p.Tyr1313=)
c.3935A= (p.Tyr1312=)
c.3962A= (p.Tyr1321=)
c.3644A= (p.Tyr1215=)
c.3947A= (p.Tyr1316=)
c.3944A= (p.Tyr1315=)
c.3653A= (p.Tyr1218=)
3g.38712313A>CCA352151128SCN10Ac.3937T>G (p.Tyr1313Asp)
c.3934T>G (p.Tyr1312Asp)
c.3961T>G (p.Tyr1321Asp)
c.3643T>G (p.Tyr1215Asp)
c.3946T>G (p.Tyr1316Asp)
c.3943T>G (p.Tyr1315Asp)
c.3652T>G (p.Tyr1218Asp)
3g.38712313A>GCA352151129SCN10Ac.3937T>C (p.Tyr1313His)
c.3934T>C (p.Tyr1312His)
c.3961T>C (p.Tyr1321His)
c.3643T>C (p.Tyr1215His)
c.3946T>C (p.Tyr1316His)
c.3943T>C (p.Tyr1315His)
c.3652T>C (p.Tyr1218His)
3g.38712313A>TCA352151130SCN10Ac.3937T>A (p.Tyr1313Asn)
c.3934T>A (p.Tyr1312Asn)
c.3961T>A (p.Tyr1321Asn)
c.3643T>A (p.Tyr1215Asn)
c.3946T>A (p.Tyr1316Asn)
c.3943T>A (p.Tyr1315Asn)
c.3652T>A (p.Tyr1218Asn)
3g.38712314G>ACA433333930SCN10Ac.3936C>T (p.Asn1312=)
c.3933C>T (p.Asn1311=)
c.3960C>T (p.Asn1320=)
c.3642C>T (p.Asn1214=)
c.3945C>T (p.Asn1315=)
c.3942C>T (p.Asn1314=)
c.3651C>T (p.Asn1217=)
3g.38712314G>CCA352151131SCN10Ac.3936C>G (p.Asn1312Lys)
c.3933C>G (p.Asn1311Lys)
c.3960C>G (p.Asn1320Lys)
c.3642C>G (p.Asn1214Lys)
c.3945C>G (p.Asn1315Lys)
c.3942C>G (p.Asn1314Lys)
c.3651C>G (p.Asn1217Lys)
gnomAD v4
3g.38712314G>TCA352151132SCN10Ac.3936C>A (p.Asn1312Lys)
c.3933C>A (p.Asn1311Lys)
c.3960C>A (p.Asn1320Lys)
c.3642C>A (p.Asn1214Lys)
c.3945C>A (p.Asn1315Lys)
c.3942C>A (p.Asn1314Lys)
c.3651C>A (p.Asn1217Lys)
3g.38712315T>ACA352151133SCN10Ac.3935A>T (p.Asn1312Ile)
c.3932A>T (p.Asn1311Ile)
c.3959A>T (p.Asn1320Ile)
c.3641A>T (p.Asn1214Ile)
c.3944A>T (p.Asn1315Ile)
c.3941A>T (p.Asn1314Ile)
c.3650A>T (p.Asn1217Ile)
3g.38712315T>CCA352151134SCN10Ac.3935A>G (p.Asn1312Ser)
c.3932A>G (p.Asn1311Ser)
c.3959A>G (p.Asn1320Ser)
c.3641A>G (p.Asn1214Ser)
c.3944A>G (p.Asn1315Ser)
c.3941A>G (p.Asn1314Ser)
c.3650A>G (p.Asn1217Ser)
gnomAD v4
3g.38712315T>GCA352151135SCN10Ac.3935A>C (p.Asn1312Thr)
c.3932A>C (p.Asn1311Thr)
c.3959A>C (p.Asn1320Thr)
c.3641A>C (p.Asn1214Thr)
c.3944A>C (p.Asn1315Thr)
c.3941A>C (p.Asn1314Thr)
c.3650A>C (p.Asn1217Thr)
3g.38712316T>ACA352151137SCN10Ac.3934A>T (p.Asn1312Tyr)
c.3931A>T (p.Asn1311Tyr)
c.3958A>T (p.Asn1320Tyr)
c.3640A>T (p.Asn1214Tyr)
c.3943A>T (p.Asn1315Tyr)
c.3940A>T (p.Asn1314Tyr)
c.3649A>T (p.Asn1217Tyr)
3g.38712316T>CCA352151138SCN10Ac.3934A>G (p.Asn1312Asp)
c.3931A>G (p.Asn1311Asp)
c.3958A>G (p.Asn1320Asp)
c.3640A>G (p.Asn1214Asp)
c.3943A>G (p.Asn1315Asp)
c.3940A>G (p.Asn1314Asp)
c.3649A>G (p.Asn1217Asp)
3g.38712316T>GCA352151136SCN10Ac.3934A>C (p.Asn1312His)
c.3931A>C (p.Asn1311His)
c.3958A>C (p.Asn1320His)
c.3640A>C (p.Asn1214His)
c.3943A>C (p.Asn1315His)
c.3940A>C (p.Asn1314His)
c.3649A>C (p.Asn1217His)
3g.38712317G>ACA433333933SCN10Ac.3933C>T (p.Ile1311=)
c.3930C>T (p.Ile1310=)
c.3957C>T (p.Ile1319=)
c.3639C>T (p.Ile1213=)
c.3942C>T (p.Ile1314=)
c.3939C>T (p.Ile1313=)
c.3648C>T (p.Ile1216=)
COSMIC
3g.38712317G>CCA352151139SCN10Ac.3933C>G (p.Ile1311Met)
c.3930C>G (p.Ile1310Met)
c.3957C>G (p.Ile1319Met)
c.3639C>G (p.Ile1213Met)
c.3942C>G (p.Ile1314Met)
c.3939C>G (p.Ile1313Met)
c.3648C>G (p.Ile1216Met)
3g.38712317G>TCA433333934SCN10Ac.3933C>A (p.Ile1311=)
c.3930C>A (p.Ile1310=)
c.3957C>A (p.Ile1319=)
c.3639C>A (p.Ile1213=)
c.3942C>A (p.Ile1314=)
c.3939C>A (p.Ile1313=)
c.3648C>A (p.Ile1216=)
3g.38712318A>CCA352151140SCN10Ac.3932T>G (p.Ile1311Ser)
c.3929T>G (p.Ile1310Ser)
c.3956T>G (p.Ile1319Ser)
c.3638T>G (p.Ile1213Ser)
c.3941T>G (p.Ile1314Ser)
c.3938T>G (p.Ile1313Ser)
c.3647T>G (p.Ile1216Ser)
3g.38712318A>GCA352151141SCN10Ac.3932T>C (p.Ile1311Thr)
c.3929T>C (p.Ile1310Thr)
c.3956T>C (p.Ile1319Thr)
c.3638T>C (p.Ile1213Thr)
c.3941T>C (p.Ile1314Thr)
c.3938T>C (p.Ile1313Thr)
c.3647T>C (p.Ile1216Thr)
gnomAD v4
3g.38712318A>TCA352151142SCN10Ac.3932T>A (p.Ile1311Asn)
c.3929T>A (p.Ile1310Asn)
c.3956T>A (p.Ile1319Asn)
c.3638T>A (p.Ile1213Asn)
c.3941T>A (p.Ile1314Asn)
c.3938T>A (p.Ile1313Asn)
c.3647T>A (p.Ile1216Asn)
3g.38712319T>ACA352151143SCN10Ac.3931A>T (p.Ile1311Phe)
c.3928A>T (p.Ile1310Phe)
c.3955A>T (p.Ile1319Phe)
c.3637A>T (p.Ile1213Phe)
c.3940A>T (p.Ile1314Phe)
c.3937A>T (p.Ile1313Phe)
c.3646A>T (p.Ile1216Phe)
3g.38712319T>CCA352151144SCN10Ac.3931A>G (p.Ile1311Val)
c.3928A>G (p.Ile1310Val)
c.3955A>G (p.Ile1319Val)
c.3637A>G (p.Ile1213Val)
c.3940A>G (p.Ile1314Val)
c.3937A>G (p.Ile1313Val)
c.3646A>G (p.Ile1216Val)
3g.38712319T>GCA352151145SCN10Ac.3931A>C (p.Ile1311Leu)
c.3928A>C (p.Ile1310Leu)
c.3955A>C (p.Ile1319Leu)
c.3637A>C (p.Ile1213Leu)
c.3940A>C (p.Ile1314Leu)
c.3937A>C (p.Ile1313Leu)
c.3646A>C (p.Ile1216Leu)
3g.38712320G>ACA433333938SCN10Ac.3930C>T (p.Cys1310=)
c.3927C>T (p.Cys1309=)
c.3954C>T (p.Cys1318=)
c.3636C>T (p.Cys1212=)
c.3939C>T (p.Cys1313=)
c.3936C>T (p.Cys1312=)
c.3645C>T (p.Cys1215=)
gnomAD v4
3g.38712320G>CCA352151146SCN10Ac.3930C>G (p.Cys1310Trp)
c.3927C>G (p.Cys1309Trp)
c.3954C>G (p.Cys1318Trp)
c.3636C>G (p.Cys1212Trp)
c.3939C>G (p.Cys1313Trp)
c.3936C>G (p.Cys1312Trp)
c.3645C>G (p.Cys1215Trp)
3g.38712320G>TCA352151147SCN10Ac.3930C>A (p.Cys1310Ter)
c.3927C>A (p.Cys1309Ter)
c.3954C>A (p.Cys1318Ter)
c.3636C>A (p.Cys1212Ter)
c.3939C>A (p.Cys1313Ter)
c.3936C>A (p.Cys1312Ter)
c.3645C>A (p.Cys1215Ter)
3g.38712321C>ACA352151148SCN10Ac.3929G>T (p.Cys1310Phe)
c.3926G>T (p.Cys1309Phe)
c.3953G>T (p.Cys1318Phe)
c.3635G>T (p.Cys1212Phe)
c.3938G>T (p.Cys1313Phe)
c.3935G>T (p.Cys1312Phe)
c.3644G>T (p.Cys1215Phe)
3g.38712321C=CA1358633340SCN10Ac.3929G= (p.Cys1310=)
c.3926G= (p.Cys1309=)
c.3953G= (p.Cys1318=)
c.3635G= (p.Cys1212=)
c.3938G= (p.Cys1313=)
c.3935G= (p.Cys1312=)
c.3644G= (p.Cys1215=)
3g.38712321C>GCA352151149SCN10Ac.3929G>C (p.Cys1310Ser)
c.3926G>C (p.Cys1309Ser)
c.3953G>C (p.Cys1318Ser)
c.3635G>C (p.Cys1212Ser)
c.3938G>C (p.Cys1313Ser)
c.3935G>C (p.Cys1312Ser)
c.3644G>C (p.Cys1215Ser)
3g.38712321C>TCA2320070SCN10Ac.3929G>A (p.Cys1310Tyr)
c.3926G>A (p.Cys1309Tyr)
c.3953G>A (p.Cys1318Tyr)
c.3635G>A (p.Cys1212Tyr)
c.3938G>A (p.Cys1313Tyr)
c.3935G>A (p.Cys1312Tyr)
c.3644G>A (p.Cys1215Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712322A=CA1358633343SCN10Ac.3928T= (p.Cys1310=)
c.3925T= (p.Cys1309=)
c.3952T= (p.Cys1318=)
c.3634T= (p.Cys1212=)
c.3937T= (p.Cys1313=)
c.3934T= (p.Cys1312=)
c.3643T= (p.Cys1215=)
3g.38712322A>CCA352151152SCN10Ac.3928T>G (p.Cys1310Gly)
c.3925T>G (p.Cys1309Gly)
c.3952T>G (p.Cys1318Gly)
c.3634T>G (p.Cys1212Gly)
c.3937T>G (p.Cys1313Gly)
c.3934T>G (p.Cys1312Gly)
c.3643T>G (p.Cys1215Gly)
3g.38712322A>GCA352151150SCN10Ac.3928T>C (p.Cys1310Arg)
c.3925T>C (p.Cys1309Arg)
c.3952T>C (p.Cys1318Arg)
c.3634T>C (p.Cys1212Arg)
c.3937T>C (p.Cys1313Arg)
c.3934T>C (p.Cys1312Arg)
c.3643T>C (p.Cys1215Arg)
dbSNP
3g.38712322A>TCA352151151SCN10Ac.3928T>A (p.Cys1310Ser)
c.3925T>A (p.Cys1309Ser)
c.3952T>A (p.Cys1318Ser)
c.3634T>A (p.Cys1212Ser)
c.3937T>A (p.Cys1313Ser)
c.3934T>A (p.Cys1312Ser)
c.3643T>A (p.Cys1215Ser)
3g.38712323C>ACA352151153SCN10Ac.3927G>T (p.Arg1309Ser)
c.3924G>T (p.Arg1308Ser)
c.3951G>T (p.Arg1317Ser)
c.3633G>T (p.Arg1211Ser)
c.3936G>T (p.Arg1312Ser)
c.3933G>T (p.Arg1311Ser)
c.3642G>T (p.Arg1214Ser)
gnomAD v4
3g.38712323C>GCA352151154SCN10Ac.3927G>C (p.Arg1309Ser)
c.3924G>C (p.Arg1308Ser)
c.3951G>C (p.Arg1317Ser)
c.3633G>C (p.Arg1211Ser)
c.3936G>C (p.Arg1312Ser)
c.3933G>C (p.Arg1311Ser)
c.3642G>C (p.Arg1214Ser)
3g.38712323C>TCA433333946SCN10Ac.3927G>A (p.Arg1309=)
c.3924G>A (p.Arg1308=)
c.3951G>A (p.Arg1317=)
c.3633G>A (p.Arg1211=)
c.3936G>A (p.Arg1312=)
c.3933G>A (p.Arg1311=)
c.3642G>A (p.Arg1214=)
gnomAD v4
3g.38712324C>ACA352151155SCN10Ac.3926G>T (p.Arg1309Met)
c.3923G>T (p.Arg1308Met)
c.3950G>T (p.Arg1317Met)
c.3632G>T (p.Arg1211Met)
c.3935G>T (p.Arg1312Met)
c.3932G>T (p.Arg1311Met)
c.3641G>T (p.Arg1214Met)
gnomAD v4
3g.38712324C>GCA352151156SCN10Ac.3926G>C (p.Arg1309Thr)
c.3923G>C (p.Arg1308Thr)
c.3950G>C (p.Arg1317Thr)
c.3632G>C (p.Arg1211Thr)
c.3935G>C (p.Arg1312Thr)
c.3932G>C (p.Arg1311Thr)
c.3641G>C (p.Arg1214Thr)
3g.38712324C>TCA352151157SCN10Ac.3926G>A (p.Arg1309Lys)
c.3923G>A (p.Arg1308Lys)
c.3950G>A (p.Arg1317Lys)
c.3632G>A (p.Arg1211Lys)
c.3935G>A (p.Arg1312Lys)
c.3932G>A (p.Arg1311Lys)
c.3641G>A (p.Arg1214Lys)
3g.38712325T>ACA352151158SCN10Ac.3925A>T (p.Arg1309Trp)
c.3922A>T (p.Arg1308Trp)
c.3949A>T (p.Arg1317Trp)
c.3631A>T (p.Arg1211Trp)
c.3934A>T (p.Arg1312Trp)
c.3931A>T (p.Arg1311Trp)
c.3640A>T (p.Arg1214Trp)
3g.38712325T>CCA352151159SCN10Ac.3925A>G (p.Arg1309Gly)
c.3922A>G (p.Arg1308Gly)
c.3949A>G (p.Arg1317Gly)
c.3631A>G (p.Arg1211Gly)
c.3934A>G (p.Arg1312Gly)
c.3931A>G (p.Arg1311Gly)
c.3640A>G (p.Arg1214Gly)
COSMIC
3g.38712325T>GCA433333948SCN10Ac.3925A>C (p.Arg1309=)
c.3922A>C (p.Arg1308=)
c.3949A>C (p.Arg1317=)
c.3631A>C (p.Arg1211=)
c.3934A>C (p.Arg1312=)
c.3931A>C (p.Arg1311=)
c.3640A>C (p.Arg1214=)
3g.38712326C>ACA352151160SCN10Ac.3924G>T (p.Trp1308Cys)
c.3921G>T (p.Trp1307Cys)
c.3948G>T (p.Trp1316Cys)
c.3630G>T (p.Trp1210Cys)
c.3933G>T (p.Trp1311Cys)
c.3930G>T (p.Trp1310Cys)
c.3639G>T (p.Trp1213Cys)
3g.38712326C=CA1358633345SCN10Ac.3924G= (p.Trp1308=)
c.3921G= (p.Trp1307=)
c.3948G= (p.Trp1316=)
c.3630G= (p.Trp1210=)
c.3933G= (p.Trp1311=)
c.3930G= (p.Trp1310=)
c.3639G= (p.Trp1213=)
3g.38712326C>GCA352151161SCN10Ac.3924G>C (p.Trp1308Cys)
c.3921G>C (p.Trp1307Cys)
c.3948G>C (p.Trp1316Cys)
c.3630G>C (p.Trp1210Cys)
c.3933G>C (p.Trp1311Cys)
c.3930G>C (p.Trp1310Cys)
c.3639G>C (p.Trp1213Cys)
dbSNP
3g.38712326C>TCA352151162SCN10Ac.3924G>A (p.Trp1308Ter)
c.3921G>A (p.Trp1307Ter)
c.3948G>A (p.Trp1316Ter)
c.3630G>A (p.Trp1210Ter)
c.3933G>A (p.Trp1311Ter)
c.3930G>A (p.Trp1310Ter)
c.3639G>A (p.Trp1213Ter)
3g.38712327C>ACA352151163SCN10Ac.3923G>T (p.Trp1308Leu)
c.3920G>T (p.Trp1307Leu)
c.3947G>T (p.Trp1316Leu)
c.3629G>T (p.Trp1210Leu)
c.3932G>T (p.Trp1311Leu)
c.3929G>T (p.Trp1310Leu)
c.3638G>T (p.Trp1213Leu)
gnomAD v4
3g.38712327C=CA1358633349SCN10Ac.3923G= (p.Trp1308=)
c.3920G= (p.Trp1307=)
c.3947G= (p.Trp1316=)
c.3629G= (p.Trp1210=)
c.3932G= (p.Trp1311=)
c.3929G= (p.Trp1310=)
c.3638G= (p.Trp1213=)
3g.38712327C>GCA352151164SCN10Ac.3923G>C (p.Trp1308Ser)
c.3920G>C (p.Trp1307Ser)
c.3947G>C (p.Trp1316Ser)
c.3629G>C (p.Trp1210Ser)
c.3932G>C (p.Trp1311Ser)
c.3929G>C (p.Trp1310Ser)
c.3638G>C (p.Trp1213Ser)
3g.38712327C>TCA352151165SCN10Ac.3923G>A (p.Trp1308Ter)
c.3920G>A (p.Trp1307Ter)
c.3947G>A (p.Trp1316Ter)
c.3629G>A (p.Trp1210Ter)
c.3932G>A (p.Trp1311Ter)
c.3929G>A (p.Trp1310Ter)
c.3638G>A (p.Trp1213Ter)
dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.38712328A>CCA352151167SCN10Ac.3922T>G (p.Trp1308Gly)
c.3919T>G (p.Trp1307Gly)
c.3946T>G (p.Trp1316Gly)
c.3628T>G (p.Trp1210Gly)
c.3931T>G (p.Trp1311Gly)
c.3928T>G (p.Trp1310Gly)
c.3637T>G (p.Trp1213Gly)
3g.38712328A>GCA352151168SCN10Ac.3922T>C (p.Trp1308Arg)
c.3919T>C (p.Trp1307Arg)
c.3946T>C (p.Trp1316Arg)
c.3628T>C (p.Trp1210Arg)
c.3931T>C (p.Trp1311Arg)
c.3928T>C (p.Trp1310Arg)
c.3637T>C (p.Trp1213Arg)
3g.38712328A>TCA352151166SCN10Ac.3922T>A (p.Trp1308Arg)
c.3919T>A (p.Trp1307Arg)
c.3946T>A (p.Trp1316Arg)
c.3628T>A (p.Trp1210Arg)
c.3931T>A (p.Trp1311Arg)
c.3928T>A (p.Trp1310Arg)
c.3637T>A (p.Trp1213Arg)
3g.38712329A>CCA352151170SCN10Ac.3921T>G (p.Phe1307Leu)
c.3918T>G (p.Phe1306Leu)
c.3945T>G (p.Phe1315Leu)
c.3627T>G (p.Phe1209Leu)
c.3930T>G (p.Phe1310Leu)
c.3927T>G (p.Phe1309Leu)
c.3636T>G (p.Phe1212Leu)
3g.38712329A>GCA433333951SCN10Ac.3921T>C (p.Phe1307=)
c.3918T>C (p.Phe1306=)
c.3945T>C (p.Phe1315=)
c.3627T>C (p.Phe1209=)
c.3930T>C (p.Phe1310=)
c.3927T>C (p.Phe1309=)
c.3636T>C (p.Phe1212=)
3g.38712329A>TCA352151169SCN10Ac.3921T>A (p.Phe1307Leu)
c.3918T>A (p.Phe1306Leu)
c.3945T>A (p.Phe1315Leu)
c.3627T>A (p.Phe1209Leu)
c.3930T>A (p.Phe1310Leu)
c.3927T>A (p.Phe1309Leu)
c.3636T>A (p.Phe1212Leu)
3g.38712330A>CCA352151171SCN10Ac.3920T>G (p.Phe1307Cys)
c.3917T>G (p.Phe1306Cys)
c.3944T>G (p.Phe1315Cys)
c.3626T>G (p.Phe1209Cys)
c.3929T>G (p.Phe1310Cys)
c.3926T>G (p.Phe1309Cys)
c.3635T>G (p.Phe1212Cys)
3g.38712330A>GCA352151172SCN10Ac.3920T>C (p.Phe1307Ser)
c.3917T>C (p.Phe1306Ser)
c.3944T>C (p.Phe1315Ser)
c.3626T>C (p.Phe1209Ser)
c.3929T>C (p.Phe1310Ser)
c.3926T>C (p.Phe1309Ser)
c.3635T>C (p.Phe1212Ser)
3g.38712330A>TCA352151173SCN10Ac.3920T>A (p.Phe1307Tyr)
c.3917T>A (p.Phe1306Tyr)
c.3944T>A (p.Phe1315Tyr)
c.3626T>A (p.Phe1209Tyr)
c.3929T>A (p.Phe1310Tyr)
c.3926T>A (p.Phe1309Tyr)
c.3635T>A (p.Phe1212Tyr)
3g.38712331A>CCA352151174SCN10Ac.3919T>G (p.Phe1307Val)
c.3916T>G (p.Phe1306Val)
c.3943T>G (p.Phe1315Val)
c.3625T>G (p.Phe1209Val)
c.3928T>G (p.Phe1310Val)
c.3925T>G (p.Phe1309Val)
c.3634T>G (p.Phe1212Val)
3g.38712331A>GCA352151175SCN10Ac.3919T>C (p.Phe1307Leu)
c.3916T>C (p.Phe1306Leu)
c.3943T>C (p.Phe1315Leu)
c.3625T>C (p.Phe1209Leu)
c.3928T>C (p.Phe1310Leu)
c.3925T>C (p.Phe1309Leu)
c.3634T>C (p.Phe1212Leu)
3g.38712331A>TCA352151176SCN10Ac.3919T>A (p.Phe1307Ile)
c.3916T>A (p.Phe1306Ile)
c.3943T>A (p.Phe1315Ile)
c.3625T>A (p.Phe1209Ile)
c.3928T>A (p.Phe1310Ile)
c.3925T>A (p.Phe1309Ile)
c.3634T>A (p.Phe1212Ile)
3g.38712332C>ACA352151177SCN10Ac.3918G>T (p.Lys1306Asn)
c.3915G>T (p.Lys1305Asn)
c.3942G>T (p.Lys1314Asn)
c.3624G>T (p.Lys1208Asn)
c.3927G>T (p.Lys1309Asn)
c.3924G>T (p.Lys1308Asn)
c.3633G>T (p.Lys1211Asn)
3g.38712332C>GCA352151178SCN10Ac.3918G>C (p.Lys1306Asn)
c.3915G>C (p.Lys1305Asn)
c.3942G>C (p.Lys1314Asn)
c.3624G>C (p.Lys1208Asn)
c.3927G>C (p.Lys1309Asn)
c.3924G>C (p.Lys1308Asn)
c.3633G>C (p.Lys1211Asn)
3g.38712332C>TCA433333960SCN10Ac.3918G>A (p.Lys1306=)
c.3915G>A (p.Lys1305=)
c.3942G>A (p.Lys1314=)
c.3624G>A (p.Lys1208=)
c.3927G>A (p.Lys1309=)
c.3924G>A (p.Lys1308=)
c.3633G>A (p.Lys1211=)
3g.38712333T>ACA352151179SCN10Ac.3917A>T (p.Lys1306Met)
c.3914A>T (p.Lys1305Met)
c.3941A>T (p.Lys1314Met)
c.3623A>T (p.Lys1208Met)
c.3926A>T (p.Lys1309Met)
c.3923A>T (p.Lys1308Met)
c.3632A>T (p.Lys1211Met)
3g.38712333T>CCA352151180SCN10Ac.3917A>G (p.Lys1306Arg)
c.3914A>G (p.Lys1305Arg)
c.3941A>G (p.Lys1314Arg)
c.3623A>G (p.Lys1208Arg)
c.3926A>G (p.Lys1309Arg)
c.3923A>G (p.Lys1308Arg)
c.3632A>G (p.Lys1211Arg)
3g.38712333T>GCA352151181SCN10Ac.3917A>C (p.Lys1306Thr)
c.3914A>C (p.Lys1305Thr)
c.3941A>C (p.Lys1314Thr)
c.3623A>C (p.Lys1208Thr)
c.3926A>C (p.Lys1309Thr)
c.3923A>C (p.Lys1308Thr)
c.3632A>C (p.Lys1211Thr)
3g.38712334T>ACA352151184SCN10Ac.3916A>T (p.Lys1306Ter)
c.3913A>T (p.Lys1305Ter)
c.3940A>T (p.Lys1314Ter)
c.3622A>T (p.Lys1208Ter)
c.3925A>T (p.Lys1309Ter)
c.3922A>T (p.Lys1308Ter)
c.3631A>T (p.Lys1211Ter)
3g.38712334T>CCA352151183SCN10Ac.3916A>G (p.Lys1306Glu)
c.3913A>G (p.Lys1305Glu)
c.3940A>G (p.Lys1314Glu)
c.3622A>G (p.Lys1208Glu)
c.3925A>G (p.Lys1309Glu)
c.3922A>G (p.Lys1308Glu)
c.3631A>G (p.Lys1211Glu)
3g.38712334T>GCA352151182SCN10Ac.3916A>C (p.Lys1306Gln)
c.3913A>C (p.Lys1305Gln)
c.3940A>C (p.Lys1314Gln)
c.3622A>C (p.Lys1208Gln)
c.3925A>C (p.Lys1309Gln)
c.3922A>C (p.Lys1308Gln)
c.3631A>C (p.Lys1211Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38712334T=CA1358633350SCN10Ac.3916A= (p.Lys1306=)
c.3913A= (p.Lys1305=)
c.3940A= (p.Lys1314=)
c.3622A= (p.Lys1208=)
c.3925A= (p.Lys1309=)
c.3922A= (p.Lys1308=)
c.3631A= (p.Lys1211=)
3g.38712335C>ACA433333967SCN10Ac.3915G>T (p.Gly1305=)
c.3912G>T (p.Gly1304=)
c.3939G>T (p.Gly1313=)
c.3621G>T (p.Gly1207=)
c.3924G>T (p.Gly1308=)
c.3921G>T (p.Gly1307=)
c.3630G>T (p.Gly1210=)
3g.38712335C=CA1358633358SCN10Ac.3915G= (p.Gly1305=)
c.3912G= (p.Gly1304=)
c.3939G= (p.Gly1313=)
c.3621G= (p.Gly1207=)
c.3924G= (p.Gly1308=)
c.3921G= (p.Gly1307=)
c.3630G= (p.Gly1210=)
3g.38712335C>GCA433333966SCN10Ac.3915G>C (p.Gly1305=)
c.3912G>C (p.Gly1304=)
c.3939G>C (p.Gly1313=)
c.3621G>C (p.Gly1207=)
c.3924G>C (p.Gly1308=)
c.3921G>C (p.Gly1307=)
c.3630G>C (p.Gly1210=)
3g.38712335C>TCA2320071SCN10Ac.3915G>A (p.Gly1305=)
c.3912G>A (p.Gly1304=)
c.3939G>A (p.Gly1313=)
c.3621G>A (p.Gly1207=)
c.3924G>A (p.Gly1308=)
c.3921G>A (p.Gly1307=)
c.3630G>A (p.Gly1210=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38712336C>ACA352151185SCN10Ac.3914G>T (p.Gly1305Val)
c.3911G>T (p.Gly1304Val)
c.3938G>T (p.Gly1313Val)
c.3620G>T (p.Gly1207Val)
c.3923G>T (p.Gly1308Val)
c.3920G>T (p.Gly1307Val)
c.3629G>T (p.Gly1210Val)
3g.38712336C>GCA352151186SCN10Ac.3914G>C (p.Gly1305Ala)
c.3911G>C (p.Gly1304Ala)
c.3938G>C (p.Gly1313Ala)
c.3620G>C (p.Gly1207Ala)
c.3923G>C (p.Gly1308Ala)
c.3920G>C (p.Gly1307Ala)
c.3629G>C (p.Gly1210Ala)
3g.38712336C>TCA352151187SCN10Ac.3914G>A (p.Gly1305Glu)
c.3911G>A (p.Gly1304Glu)
c.3938G>A (p.Gly1313Glu)
c.3620G>A (p.Gly1207Glu)
c.3923G>A (p.Gly1308Glu)
c.3920G>A (p.Gly1307Glu)
c.3629G>A (p.Gly1210Glu)
3g.38712337C>ACA352151188SCN10Ac.3913G>T (p.Gly1305Trp)
c.3910G>T (p.Gly1304Trp)
c.3937G>T (p.Gly1313Trp)
c.3619G>T (p.Gly1207Trp)
c.3922G>T (p.Gly1308Trp)
c.3919G>T (p.Gly1307Trp)
c.3628G>T (p.Gly1210Trp)
3g.38712337C=CA1358633362SCN10Ac.3913G= (p.Gly1305=)
c.3910G= (p.Gly1304=)
c.3937G= (p.Gly1313=)
c.3619G= (p.Gly1207=)
c.3922G= (p.Gly1308=)
c.3919G= (p.Gly1307=)
c.3628G= (p.Gly1210=)
3g.38712337C>GCA352151189SCN10Ac.3913G>C (p.Gly1305Arg)
c.3910G>C (p.Gly1304Arg)
c.3937G>C (p.Gly1313Arg)
c.3619G>C (p.Gly1207Arg)
c.3922G>C (p.Gly1308Arg)
c.3919G>C (p.Gly1307Arg)
c.3628G>C (p.Gly1210Arg)
3g.38712337C>TCA352151190SCN10Ac.3913G>A (p.Gly1305Arg)
c.3910G>A (p.Gly1304Arg)
c.3937G>A (p.Gly1313Arg)
c.3619G>A (p.Gly1207Arg)
c.3922G>A (p.Gly1308Arg)
c.3919G>A (p.Gly1307Arg)
c.3628G>A (p.Gly1210Arg)
dbSNP
3g.38712338T>ACA433333971SCN10Ac.3912A>T (p.Ala1304=)
c.3909A>T (p.Ala1303=)
c.3936A>T (p.Ala1312=)
c.3618A>T (p.Ala1206=)
c.3921A>T (p.Ala1307=)
c.3918A>T (p.Ala1306=)
c.3627A>T (p.Ala1209=)
3g.38712338T>CCA433333973SCN10Ac.3912A>G (p.Ala1304=)
c.3909A>G (p.Ala1303=)
c.3936A>G (p.Ala1312=)
c.3618A>G (p.Ala1206=)
c.3921A>G (p.Ala1307=)
c.3918A>G (p.Ala1306=)
c.3627A>G (p.Ala1209=)
3g.38712338T>GCA433333972SCN10Ac.3912A>C (p.Ala1304=)
c.3909A>C (p.Ala1303=)
c.3936A>C (p.Ala1312=)
c.3618A>C (p.Ala1206=)
c.3921A>C (p.Ala1307=)
c.3918A>C (p.Ala1306=)
c.3627A>C (p.Ala1209=)
3g.38712339G>ACA352151191SCN10Ac.3911C>T (p.Ala1304Val)
c.3908C>T (p.Ala1303Val)
c.3935C>T (p.Ala1312Val)
c.3617C>T (p.Ala1206Val)
c.3920C>T (p.Ala1307Val)
c.3917C>T (p.Ala1306Val)
c.3626C>T (p.Ala1209Val)
ClinVar
3g.38712339G>CCA352151192SCN10Ac.3911C>G (p.Ala1304Gly)
c.3908C>G (p.Ala1303Gly)
c.3935C>G (p.Ala1312Gly)
c.3617C>G (p.Ala1206Gly)
c.3920C>G (p.Ala1307Gly)
c.3917C>G (p.Ala1306Gly)
c.3626C>G (p.Ala1209Gly)
3g.38712339G>TCA352151193SCN10Ac.3911C>A (p.Ala1304Glu)
c.3908C>A (p.Ala1303Glu)
c.3935C>A (p.Ala1312Glu)
c.3617C>A (p.Ala1206Glu)
c.3920C>A (p.Ala1307Glu)
c.3917C>A (p.Ala1306Glu)
c.3626C>A (p.Ala1209Glu)
COSMIC
3g.38712340C>ACA2320072SCN10Ac.3910G>T (p.Ala1304Ser)
c.3907G>T (p.Ala1303Ser)
c.3934G>T (p.Ala1312Ser)
c.3616G>T (p.Ala1206Ser)
c.3919G>T (p.Ala1307Ser)
c.3916G>T (p.Ala1306Ser)
c.3625G>T (p.Ala1209Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38712340C=CA1358633369SCN10Ac.3910G= (p.Ala1304=)
c.3907G= (p.Ala1303=)
c.3934G= (p.Ala1312=)
c.3616G= (p.Ala1206=)
c.3919G= (p.Ala1307=)
c.3916G= (p.Ala1306=)
c.3625G= (p.Ala1209=)
3g.38712340C>GCA352151194SCN10Ac.3910G>C (p.Ala1304Pro)
c.3907G>C (p.Ala1303Pro)
c.3934G>C (p.Ala1312Pro)
c.3616G>C (p.Ala1206Pro)
c.3919G>C (p.Ala1307Pro)
c.3916G>C (p.Ala1306Pro)
c.3625G>C (p.Ala1209Pro)
3g.38712340C>TCA145439SCN10Ac.3910G>A (p.Ala1304Thr)
c.3907G>A (p.Ala1303Thr)
c.3934G>A (p.Ala1312Thr)
c.3616G>A (p.Ala1206Thr)
c.3919G>A (p.Ala1307Thr)
c.3916G>A (p.Ala1306Thr)
c.3625G>A (p.Ala1209Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38712341G>ACA72950507SCN10Ac.3909C>T (p.Phe1303=)
c.3906C>T (p.Phe1302=)
c.3933C>T (p.Phe1311=)
c.3615C>T (p.Phe1205=)
c.3918C>T (p.Phe1306=)
c.3915C>T (p.Phe1305=)
c.3624C>T (p.Phe1208=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38712341G>CCA352151195SCN10Ac.3909C>G (p.Phe1303Leu)
c.3906C>G (p.Phe1302Leu)
c.3933C>G (p.Phe1311Leu)
c.3615C>G (p.Phe1205Leu)
c.3918C>G (p.Phe1306Leu)
c.3915C>G (p.Phe1305Leu)
c.3624C>G (p.Phe1208Leu)
3g.38712341G=CA1358633372SCN10Ac.3909C= (p.Phe1303=)
c.3906C= (p.Phe1302=)
c.3933C= (p.Phe1311=)
c.3615C= (p.Phe1205=)
c.3918C= (p.Phe1306=)
c.3915C= (p.Phe1305=)
c.3624C= (p.Phe1208=)
3g.38712341G>TCA352151196SCN10Ac.3909C>A (p.Phe1303Leu)
c.3906C>A (p.Phe1302Leu)
c.3933C>A (p.Phe1311Leu)
c.3615C>A (p.Phe1205Leu)
c.3918C>A (p.Phe1306Leu)
c.3915C>A (p.Phe1305Leu)
c.3624C>A (p.Phe1208Leu)
3g.38712342A=CA1358633376SCN10Ac.3908T= (p.Phe1303=)
c.3905T= (p.Phe1302=)
c.3932T= (p.Phe1311=)
c.3614T= (p.Phe1205=)
c.3917T= (p.Phe1306=)
c.3914T= (p.Phe1305=)
c.3623T= (p.Phe1208=)
3g.38712342A>CCA352151197SCN10Ac.3908T>G (p.Phe1303Cys)
c.3905T>G (p.Phe1302Cys)
c.3932T>G (p.Phe1311Cys)
c.3614T>G (p.Phe1205Cys)
c.3917T>G (p.Phe1306Cys)
c.3914T>G (p.Phe1305Cys)
c.3623T>G (p.Phe1208Cys)
3g.38712342A>GCA16617956SCN10Ac.3908T>C (p.Phe1303Ser)
c.3905T>C (p.Phe1302Ser)
c.3932T>C (p.Phe1311Ser)
c.3614T>C (p.Phe1205Ser)
c.3917T>C (p.Phe1306Ser)
c.3914T>C (p.Phe1305Ser)
c.3623T>C (p.Phe1208Ser)
ClinVar dbSNP
3g.38712342A>TCA352151198SCN10Ac.3908T>A (p.Phe1303Tyr)
c.3905T>A (p.Phe1302Tyr)
c.3932T>A (p.Phe1311Tyr)
c.3614T>A (p.Phe1205Tyr)
c.3917T>A (p.Phe1306Tyr)
c.3914T>A (p.Phe1305Tyr)
c.3623T>A (p.Phe1208Tyr)
3g.38712343A>CCA352151199SCN10Ac.3907T>G (p.Phe1303Val)
c.3904T>G (p.Phe1302Val)
c.3931T>G (p.Phe1311Val)
c.3613T>G (p.Phe1205Val)
c.3916T>G (p.Phe1306Val)
c.3913T>G (p.Phe1305Val)
c.3622T>G (p.Phe1208Val)
3g.38712343A>GCA352151200SCN10Ac.3907T>C (p.Phe1303Leu)
c.3904T>C (p.Phe1302Leu)
c.3931T>C (p.Phe1311Leu)
c.3613T>C (p.Phe1205Leu)
c.3916T>C (p.Phe1306Leu)
c.3913T>C (p.Phe1305Leu)
c.3622T>C (p.Phe1208Leu)
3g.38712343A>TCA352151201SCN10Ac.3907T>A (p.Phe1303Ile)
c.3904T>A (p.Phe1302Ile)
c.3931T>A (p.Phe1311Ile)
c.3613T>A (p.Phe1205Ile)
c.3916T>A (p.Phe1306Ile)
c.3913T>A (p.Phe1305Ile)
c.3622T>A (p.Phe1208Ile)
3g.38712344G>ACA433333980SCN10Ac.3906C>T (p.Leu1302=)
c.3903C>T (p.Leu1301=)
c.3930C>T (p.Leu1310=)
c.3612C>T (p.Leu1204=)
c.3915C>T (p.Leu1305=)
c.3912C>T (p.Leu1304=)
c.3621C>T (p.Leu1207=)
gnomAD v4 COSMIC
3g.38712344G>CCA433333981SCN10Ac.3906C>G (p.Leu1302=)
c.3903C>G (p.Leu1301=)
c.3930C>G (p.Leu1310=)
c.3612C>G (p.Leu1204=)
c.3915C>G (p.Leu1305=)
c.3912C>G (p.Leu1304=)
c.3621C>G (p.Leu1207=)
3g.38712344G>TCA433333982SCN10Ac.3906C>A (p.Leu1302=)
c.3903C>A (p.Leu1301=)
c.3930C>A (p.Leu1310=)
c.3612C>A (p.Leu1204=)
c.3915C>A (p.Leu1305=)
c.3912C>A (p.Leu1304=)
c.3621C>A (p.Leu1207=)
3g.38712345A>CCA352151204SCN10Ac.3905T>G (p.Leu1302Arg)
c.3902T>G (p.Leu1301Arg)
c.3929T>G (p.Leu1310Arg)
c.3611T>G (p.Leu1204Arg)
c.3914T>G (p.Leu1305Arg)
c.3911T>G (p.Leu1304Arg)
c.3620T>G (p.Leu1207Arg)
3g.38712345A>GCA352151202SCN10Ac.3905T>C (p.Leu1302Pro)
c.3902T>C (p.Leu1301Pro)
c.3929T>C (p.Leu1310Pro)
c.3611T>C (p.Leu1204Pro)
c.3914T>C (p.Leu1305Pro)
c.3911T>C (p.Leu1304Pro)
c.3620T>C (p.Leu1207Pro)
3g.38712345A>TCA352151203SCN10Ac.3905T>A (p.Leu1302His)
c.3902T>A (p.Leu1301His)
c.3929T>A (p.Leu1310His)
c.3611T>A (p.Leu1204His)
c.3914T>A (p.Leu1305His)
c.3911T>A (p.Leu1304His)
c.3620T>A (p.Leu1207His)
3g.38712346G>ACA352151205SCN10Ac.3904C>T (p.Leu1302Phe)
c.3901C>T (p.Leu1301Phe)
c.3928C>T (p.Leu1310Phe)
c.3610C>T (p.Leu1204Phe)
c.3913C>T (p.Leu1305Phe)
c.3910C>T (p.Leu1304Phe)
c.3619C>T (p.Leu1207Phe)
dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.38712346G>CCA352151206SCN10Ac.3904C>G (p.Leu1302Val)
c.3901C>G (p.Leu1301Val)
c.3928C>G (p.Leu1310Val)
c.3610C>G (p.Leu1204Val)
c.3913C>G (p.Leu1305Val)
c.3910C>G (p.Leu1304Val)
c.3619C>G (p.Leu1207Val)
ClinVar dbSNP
3g.38712346G=CA1358633378SCN10Ac.3904C= (p.Leu1302=)
c.3901C= (p.Leu1301=)
c.3928C= (p.Leu1310=)
c.3610C= (p.Leu1204=)
c.3913C= (p.Leu1305=)
c.3910C= (p.Leu1304=)
c.3619C= (p.Leu1207=)
3g.38712346G>TCA352151207SCN10Ac.3904C>A (p.Leu1302Ile)
c.3901C>A (p.Leu1301Ile)
c.3928C>A (p.Leu1310Ile)
c.3610C>A (p.Leu1204Ile)
c.3913C>A (p.Leu1305Ile)
c.3910C>A (p.Leu1304Ile)
c.3619C>A (p.Leu1207Ile)
3g.38712347G>ACA433333985SCN10Ac.3903C>T (p.Asn1301=)
c.3900C>T (p.Asn1300=)
c.3927C>T (p.Asn1309=)
c.3609C>T (p.Asn1203=)
c.3912C>T (p.Asn1304=)
c.3909C>T (p.Asn1303=)
c.3618C>T (p.Asn1206=)
dbSNP gnomAD v2 gnomAD v4
3g.38712347G>CCA352151208SCN10Ac.3903C>G (p.Asn1301Lys)
c.3900C>G (p.Asn1300Lys)
c.3927C>G (p.Asn1309Lys)
c.3609C>G (p.Asn1203Lys)
c.3912C>G (p.Asn1304Lys)
c.3909C>G (p.Asn1303Lys)
c.3618C>G (p.Asn1206Lys)
3g.38712347G=CA1358633381SCN10Ac.3903C= (p.Asn1301=)
c.3900C= (p.Asn1300=)
c.3927C= (p.Asn1309=)
c.3609C= (p.Asn1203=)
c.3912C= (p.Asn1304=)
c.3909C= (p.Asn1303=)
c.3618C= (p.Asn1206=)
3g.38712347G>TCA72950509SCN10Ac.3903C>A (p.Asn1301Lys)
c.3900C>A (p.Asn1300Lys)
c.3927C>A (p.Asn1309Lys)
c.3609C>A (p.Asn1203Lys)
c.3912C>A (p.Asn1304Lys)
c.3909C>A (p.Asn1303Lys)
c.3618C>A (p.Asn1206Lys)
dbSNP COSMIC
3g.38712348T>ACA352151209SCN10Ac.3902A>T (p.Asn1301Ile)
c.3899A>T (p.Asn1300Ile)
c.3926A>T (p.Asn1309Ile)
c.3608A>T (p.Asn1203Ile)
c.3911A>T (p.Asn1304Ile)
c.3908A>T (p.Asn1303Ile)
c.3617A>T (p.Asn1206Ile)
3g.38712348T>CCA352151211SCN10Ac.3902A>G (p.Asn1301Ser)
c.3899A>G (p.Asn1300Ser)
c.3926A>G (p.Asn1309Ser)
c.3608A>G (p.Asn1203Ser)
c.3911A>G (p.Asn1304Ser)
c.3908A>G (p.Asn1303Ser)
c.3617A>G (p.Asn1206Ser)
gnomAD v4
3g.38712348T>GCA352151210SCN10Ac.3902A>C (p.Asn1301Thr)
c.3899A>C (p.Asn1300Thr)
c.3926A>C (p.Asn1309Thr)
c.3608A>C (p.Asn1203Thr)
c.3911A>C (p.Asn1304Thr)
c.3908A>C (p.Asn1303Thr)
c.3617A>C (p.Asn1206Thr)
COSMIC

Number of alleles fetched