Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.30307936_30311263delCA658653869 ClinVar
Xg.30308299G>ACA10376313NR0B1c.1065C>T (p.Ala355=)
c.180C>T (p.Ala60=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.30308299G>CCA515717453NR0B1c.1065C>G (p.Ala355=)
c.180C>G (p.Ala60=)
Xg.30308299G=CA2422040391NR0B1c.1065C= (p.Ala355=)
c.180C= (p.Ala60=)
Xg.30308299G>TCA515717454NR0B1c.1065C>A (p.Ala355=)
c.180C>A (p.Ala60=)
Xg.30308300G>ACA412546685NR0B1c.1064C>T (p.Ala355Val)
c.179C>T (p.Ala60Val)
Xg.30308300G>CCA412546686NR0B1c.1064C>G (p.Ala355Gly)
c.179C>G (p.Ala60Gly)
Xg.30308300G>TCA412546687NR0B1c.1064C>A (p.Ala355Asp)
c.179C>A (p.Ala60Asp)
Xg.30308301C>ACA412546688NR0B1c.1063G>T (p.Ala355Ser)
c.178G>T (p.Ala60Ser)
Xg.30308301C=CA2422040392NR0B1c.1063G= (p.Ala355=)
c.178G= (p.Ala60=)
Xg.30308301C>GCA412546689NR0B1c.1063G>C (p.Ala355Pro)
c.178G>C (p.Ala60Pro)
Xg.30308301C>TCA10376314NR0B1c.1063G>A (p.Ala355Thr)
c.178G>A (p.Ala60Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.30308302G>ACA515717463NR0B1c.1062C>T (p.Ser354=)
c.177C>T (p.Ser59=)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.30308302G>CCA515717465NR0B1c.1062C>G (p.Ser354=)
c.177C>G (p.Ser59=)
ClinVar
Xg.30308302G=CA2422040393NR0B1c.1062C= (p.Ser354=)
c.177C= (p.Ser59=)
Xg.30308302G>TCA10376315NR0B1c.1062C>A (p.Ser354=)
c.177C>A (p.Ser59=)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
Xg.30308303delCA2695232166NR0B1c.1062del (p.Ala355ProfsTer17)
c.177del (p.Ala60ProfsTer17)
Xg.30308303G>ACA412546690NR0B1c.1061C>T (p.Ser354Phe)
c.176C>T (p.Ser59Phe)
Xg.30308303G>CCA412546691NR0B1c.1061C>G (p.Ser354Cys)
c.176C>G (p.Ser59Cys)
gnomAD v4
Xg.30308303G>TCA412546692NR0B1c.1061C>A (p.Ser354Tyr)
c.176C>A (p.Ser59Tyr)
Xg.30308304A>CCA412546695NR0B1c.1060T>G (p.Ser354Ala)
c.175T>G (p.Ser59Ala)
Xg.30308304A>GCA412546694NR0B1c.1060T>C (p.Ser354Pro)
c.175T>C (p.Ser59Pro)
Xg.30308304A>TCA412546693NR0B1c.1060T>A (p.Ser354Thr)
c.175T>A (p.Ser59Thr)
Xg.30308305G>ACA515945850NR0B1c.1059C>T (p.Pro353=)
c.174C>T (p.Pro58=)
gnomAD v4
Xg.30308305G>CCA515945852NR0B1c.1059C>G (p.Pro353=)
c.174C>G (p.Pro58=)
dbSNP gnomAD v2 gnomAD v4
Xg.30308305G=CA2422040394NR0B1c.1059C= (p.Pro353=)
c.174C= (p.Pro58=)
Xg.30308305G>TCA515945853NR0B1c.1059C>A (p.Pro353=)
c.174C>A (p.Pro58=)
Xg.30308306_30308307delCA2695232167NR0B1c.1058_1059del (p.Pro353LeufsTer?)
c.173_174del (p.Pro58LeufsTer?)
Xg.30308306G>ACA412546696NR0B1c.1058C>T (p.Pro353Leu)
c.173C>T (p.Pro58Leu)
Xg.30308306G>CCA412546697NR0B1c.1058C>G (p.Pro353Arg)
c.173C>G (p.Pro58Arg)
Xg.30308306G>TCA412546698NR0B1c.1058C>A (p.Pro353His)
c.173C>A (p.Pro58His)
gnomAD v4
Xg.30308307G>ACA412546700NR0B1c.1057C>T (p.Pro353Ser)
c.172C>T (p.Pro58Ser)
gnomAD v4
Xg.30308307G>CCA412546701NR0B1c.1057C>G (p.Pro353Ala)
c.172C>G (p.Pro58Ala)
Xg.30308307G>TCA412546702NR0B1c.1057C>A (p.Pro353Thr)
c.172C>A (p.Pro58Thr)
Xg.30308308C>ACA515945859NR0B1c.1056G>T (p.Val352=)
c.171G>T (p.Val57=)
Xg.30308308C>GCA515945861NR0B1c.1056G>C (p.Val352=)
c.171G>C (p.Val57=)
Xg.30308308C>TCA515945863NR0B1c.1056G>A (p.Val352=)
c.171G>A (p.Val57=)
gnomAD v4
Xg.30308309A>CCA412546703NR0B1c.1055T>G (p.Val352Gly)
c.170T>G (p.Val57Gly)
Xg.30308309A>GCA412546704NR0B1c.1055T>C (p.Val352Ala)
c.170T>C (p.Val57Ala)
Xg.30308309A>TCA412546705NR0B1c.1055T>A (p.Val352Glu)
c.170T>A (p.Val57Glu)
Xg.30308310C>ACA412546706NR0B1c.1054G>T (p.Val352Leu)
c.169G>T (p.Val57Leu)
Xg.30308310C>GCA412546713NR0B1c.1054G>C (p.Val352Leu)
c.169G>C (p.Val57Leu)
Xg.30308310C>TCA412546716NR0B1c.1054G>A (p.Val352Met)
c.169G>A (p.Val57Met)
Xg.30308311C>ACA412546718NR0B1c.1053G>T (p.Lys351Asn)
c.168G>T (p.Lys56Asn)
Xg.30308311C>GCA412546719NR0B1c.1053G>C (p.Lys351Asn)
c.168G>C (p.Lys56Asn)
Xg.30308311C>TCA515945871NR0B1c.1053G>A (p.Lys351=)
c.168G>A (p.Lys56=)
gnomAD v4
Xg.30308312T>ACA412546724NR0B1c.1052A>T (p.Lys351Met)
c.167A>T (p.Lys56Met)
Xg.30308312T>CCA412546726NR0B1c.1052A>G (p.Lys351Arg)
c.167A>G (p.Lys56Arg)
Xg.30308312T>GCA412546722NR0B1c.1052A>C (p.Lys351Thr)
c.167A>C (p.Lys56Thr)
Xg.30308313T>ACA412546728NR0B1c.1051A>T (p.Lys351Ter)
c.166A>T (p.Lys56Ter)
Xg.30308313T>CCA412546730NR0B1c.1051A>G (p.Lys351Glu)
c.166A>G (p.Lys56Glu)
Xg.30308313T>GCA412546731NR0B1c.1051A>C (p.Lys351Gln)
c.166A>C (p.Lys56Gln)
Xg.30308314C>ACA412546733NR0B1c.1050G>T (p.Arg350Ser)
c.165G>T (p.Arg55Ser)
Xg.30308314C=CA2422040395NR0B1c.1050G= (p.Arg350=)
c.165G= (p.Arg55=)
Xg.30308314C>GCA412546735NR0B1c.1050G>C (p.Arg350Ser)
c.165G>C (p.Arg55Ser)
Xg.30308314C>TCA515945876NR0B1c.1050G>A (p.Arg350=)
c.165G>A (p.Arg55=)
dbSNP
Xg.30308315C>ACA412546737NR0B1c.1049G>T (p.Arg350Met)
c.164G>T (p.Arg55Met)
Xg.30308315C>GCA412546740NR0B1c.1049G>C (p.Arg350Thr)
c.164G>C (p.Arg55Thr)
Xg.30308315C>TCA412546741NR0B1c.1049G>A (p.Arg350Lys)
c.164G>A (p.Arg55Lys)
Xg.30308315_30308316delCA2548635674NR0B1c.1048_1049del (p.Arg350GlufsTer?)
c.163_164del (p.Arg55GlufsTer?)
Xg.30308316T>ACA412546743NR0B1c.1048A>T (p.Arg350Trp)
c.163A>T (p.Arg55Trp)
Xg.30308316T>CCA412546745NR0B1c.1048A>G (p.Arg350Gly)
c.163A>G (p.Arg55Gly)
Xg.30308316T>GCA515945878NR0B1c.1048A>C (p.Arg350=)
c.163A>C (p.Arg55=)
Xg.30308317G>ACA515945882NR0B1c.1047C>T (p.Ala349=)
c.162C>T (p.Ala54=)
gnomAD v4
Xg.30308317G>CCA515945881NR0B1c.1047C>G (p.Ala349=)
c.162C>G (p.Ala54=)
Xg.30308317G>TCA515945880NR0B1c.1047C>A (p.Ala349=)
c.162C>A (p.Ala54=)
COSMIC COSMIC
Xg.30308319_30308331delCA2695232168NR0B1c.1035_1047del (p.Pro346GlyfsTer22)
c.150_162del (p.Pro51GlyfsTer22)
Xg.30308318G>ACA412546748NR0B1c.1046C>T (p.Ala349Val)
c.161C>T (p.Ala54Val)
dbSNP gnomAD v4
Xg.30308318G>CCA412546750NR0B1c.1046C>G (p.Ala349Gly)
c.161C>G (p.Ala54Gly)
Xg.30308318G=CA2422040396NR0B1c.1046C= (p.Ala349=)
c.161C= (p.Ala54=)
Xg.30308318G>TCA412546751NR0B1c.1046C>A (p.Ala349Asp)
c.161C>A (p.Ala54Asp)
Xg.30308319C>ACA412546757NR0B1c.1045G>T (p.Ala349Ser)
c.160G>T (p.Ala54Ser)
gnomAD v4
Xg.30308319C>GCA412546754NR0B1c.1045G>C (p.Ala349Pro)
c.160G>C (p.Ala54Pro)
Xg.30308319C>TCA412546756NR0B1c.1045G>A (p.Ala349Thr)
c.160G>A (p.Ala54Thr)
Xg.30308320C>ACA412546759NR0B1c.1044G>T (p.Glu348Asp)
c.159G>T (p.Glu53Asp)
dbSNP
Xg.30308320C=CA2422040397NR0B1c.1044G= (p.Glu348=)
c.159G= (p.Glu53=)
Xg.30308320C>GCA412546768NR0B1c.1044G>C (p.Glu348Asp)
c.159G>C (p.Glu53Asp)
Xg.30308320C>TCA515945887NR0B1c.1044G>A (p.Glu348=)
c.159G>A (p.Glu53=)
gnomAD v4
Xg.30308321T>ACA412546771NR0B1c.1043A>T (p.Glu348Val)
c.158A>T (p.Glu53Val)
Xg.30308321T>CCA412546773NR0B1c.1043A>G (p.Glu348Gly)
c.158A>G (p.Glu53Gly)
Xg.30308321T>GCA412546774NR0B1c.1043A>C (p.Glu348Ala)
c.158A>C (p.Glu53Ala)
Xg.30308321_30308322delinsTCCA2422040398NR0B1c.1042_1043delinsGA (p.Glu348=)
c.157_158delinsGA (p.Glu53=)
Xg.30308322C>ACA412546780NR0B1c.1042G>T (p.Glu348Ter)
c.157G>T (p.Glu53Ter)
Xg.30308322C>GCA412546782NR0B1c.1042G>C (p.Glu348Gln)
c.157G>C (p.Glu53Gln)
Xg.30308322C>TCA412546784NR0B1c.1042G>A (p.Glu348Lys)
c.157G>A (p.Glu53Lys)
Xg.30308323delCA916083874NR0B1c.1042del (p.Glu348ArgfsTer24)
c.157del (p.Glu53ArgfsTer24)
ClinVar dbSNP
Xg.30308323C>ACA515945893NR0B1c.1041G>T (p.Ala347=)
c.156G>T (p.Ala52=)
Xg.30308323C>GCA515945896NR0B1c.1041G>C (p.Ala347=)
c.156G>C (p.Ala52=)
Xg.30308323C>TCA515945895NR0B1c.1041G>A (p.Ala347=)
c.156G>A (p.Ala52=)
Xg.30308324G>ACA412546787NR0B1c.1040C>T (p.Ala347Val)
c.155C>T (p.Ala52Val)
Xg.30308324G>CCA327975849NR0B1c.1040C>G (p.Ala347Gly)
c.155C>G (p.Ala52Gly)
dbSNP
Xg.30308324G=CA2422040399NR0B1c.1040C= (p.Ala347=)
c.155C= (p.Ala52=)
Xg.30308324G>TCA10376316NR0B1c.1040C>A (p.Ala347Glu)
c.155C>A (p.Ala52Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308325C>ACA412546790NR0B1c.1039G>T (p.Ala347Ser)
c.154G>T (p.Ala52Ser)
Xg.30308325C=CA2422040400NR0B1c.1039G= (p.Ala347=)
c.154G= (p.Ala52=)
Xg.30308325C>GCA412546793NR0B1c.1039G>C (p.Ala347Pro)
c.154G>C (p.Ala52Pro)
dbSNP
Xg.30308325C>TCA412546792NR0B1c.1039G>A (p.Ala347Thr)
c.154G>A (p.Ala52Thr)
Xg.30308326C>ACA515945902NR0B1c.1038G>T (p.Pro346=)
c.153G>T (p.Pro51=)
gnomAD v4
Xg.30308326C=CA2422040401NR0B1c.1038G= (p.Pro346=)
c.153G= (p.Pro51=)
Xg.30308326C>GCA515945904NR0B1c.1038G>C (p.Pro346=)
c.153G>C (p.Pro51=)
Xg.30308326C>TCA515945905NR0B1c.1038G>A (p.Pro346=)
c.153G>A (p.Pro51=)
dbSNP
Xg.30308327G>ACA412546796NR0B1c.1037C>T (p.Pro346Leu)
c.152C>T (p.Pro51Leu)
dbSNP
Xg.30308327G>CCA412546800NR0B1c.1037C>G (p.Pro346Arg)
c.152C>G (p.Pro51Arg)
Xg.30308327G=CA2422040402NR0B1c.1037C= (p.Pro346=)
c.152C= (p.Pro51=)
Xg.30308327G>TCA412546797NR0B1c.1037C>A (p.Pro346Gln)
c.152C>A (p.Pro51Gln)
Xg.30308328G>ACA412546802NR0B1c.1036C>T (p.Pro346Ser)
c.151C>T (p.Pro51Ser)
Xg.30308328G>CCA412546804NR0B1c.1036C>G (p.Pro346Ala)
c.151C>G (p.Pro51Ala)
Xg.30308328G>TCA412546806NR0B1c.1036C>A (p.Pro346Thr)
c.151C>A (p.Pro51Thr)
Xg.30308329C>ACA515945909NR0B1c.1035G>T (p.Pro345=)
c.150G>T (p.Pro50=)
Xg.30308329C=CA2422040403NR0B1c.1035G= (p.Pro345=)
c.150G= (p.Pro50=)
Xg.30308329C>GCA515945910NR0B1c.1035G>C (p.Pro345=)
c.150G>C (p.Pro50=)
Xg.30308329C>TCA515945911NR0B1c.1035G>A (p.Pro345=)
c.150G>A (p.Pro50=)
dbSNP COSMIC COSMIC
Xg.30308330G>ACA10376317NR0B1c.1034C>T (p.Pro345Leu)
c.149C>T (p.Pro50Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.30308330G>CCA412546809NR0B1c.1034C>G (p.Pro345Arg)
c.149C>G (p.Pro50Arg)
Xg.30308330G=CA2422040404NR0B1c.1034C= (p.Pro345=)
c.149C= (p.Pro50=)
Xg.30308330G>TCA412546811NR0B1c.1034C>A (p.Pro345Gln)
c.149C>A (p.Pro50Gln)
dbSNP gnomAD v3 gnomAD v4
Xg.30308331delCA2695232169NR0B1c.1034del (p.Pro345ArgfsTer27)
c.149del (p.Pro50ArgfsTer27)
Xg.30308331G>ACA412546812NR0B1c.1033C>T (p.Pro345Ser)
c.148C>T (p.Pro50Ser)
Xg.30308331G>CCA412546813NR0B1c.1033C>G (p.Pro345Ala)
c.148C>G (p.Pro50Ala)
Xg.30308331G=CA2422040405NR0B1c.1033C= (p.Pro345=)
c.148C= (p.Pro50=)
Xg.30308331G>TCA10376318NR0B1c.1033C>A (p.Pro345Thr)
c.148C>A (p.Pro50Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308332T>ACA515945916NR0B1c.1032A>T (p.Ala344=)
c.147A>T (p.Ala49=)
Xg.30308332T>CCA515945917NR0B1c.1032A>G (p.Ala344=)
c.147A>G (p.Ala49=)
Xg.30308332T>GCA10376319NR0B1c.1032A>C (p.Ala344=)
c.147A>C (p.Ala49=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.30308332T=CA2422040406NR0B1c.1032A= (p.Ala344=)
c.147A= (p.Ala49=)
Xg.30308333G>ACA412546818NR0B1c.1031C>T (p.Ala344Val)
c.146C>T (p.Ala49Val)
Xg.30308333G>CCA412546820NR0B1c.1031C>G (p.Ala344Gly)
c.146C>G (p.Ala49Gly)
Xg.30308333G>TCA412546822NR0B1c.1031C>A (p.Ala344Glu)
c.146C>A (p.Ala49Glu)
Xg.30308334C>ACA412546825NR0B1c.1030G>T (p.Ala344Ser)
c.145G>T (p.Ala49Ser)
Xg.30308334C>GCA412546829NR0B1c.1030G>C (p.Ala344Pro)
c.145G>C (p.Ala49Pro)
Xg.30308334C>TCA412546826NR0B1c.1030G>A (p.Ala344Thr)
c.145G>A (p.Ala49Thr)
Xg.30308335C>ACA412546832NR0B1c.1029G>T (p.Leu343Phe)
c.144G>T (p.Leu48Phe)
Xg.30308335C=CA2422040407NR0B1c.1029G= (p.Leu343=)
c.144G= (p.Leu48=)
Xg.30308335C>GCA412546834NR0B1c.1029G>C (p.Leu343Phe)
c.144G>C (p.Leu48Phe)
Xg.30308335C>TCA10376320NR0B1c.1029G>A (p.Leu343=)
c.144G>A (p.Leu48=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308336A>CCA412546837NR0B1c.1028T>G (p.Leu343Trp)
c.143T>G (p.Leu48Trp)
Xg.30308336A>GCA412546839NR0B1c.1028T>C (p.Leu343Ser)
c.143T>C (p.Leu48Ser)
Xg.30308336A>TCA412546840NR0B1c.1028T>A (p.Leu343Ter)
c.143T>A (p.Leu48Ter)
Xg.30308337A>CCA412546842NR0B1c.1027T>G (p.Leu343Val)
c.142T>G (p.Leu48Val)
Xg.30308337A>GCA515945922NR0B1c.1027T>C (p.Leu343=)
c.142T>C (p.Leu48=)
Xg.30308337A>TCA412546848NR0B1c.1027T>A (p.Leu343Met)
c.142T>A (p.Leu48Met)
Xg.30308338A>CCA412546852NR0B1c.1026T>G (p.His342Gln)
c.141T>G (p.His47Gln)
Xg.30308338A>GCA515945924NR0B1c.1026T>C (p.His342=)
c.141T>C (p.His47=)
gnomAD v4 COSMIC COSMIC
Xg.30308338A>TCA412546854NR0B1c.1026T>A (p.His342Gln)
c.141T>A (p.His47Gln)
Xg.30308339T>ACA412546859NR0B1c.1025A>T (p.His342Leu)
c.140A>T (p.His47Leu)
Xg.30308339T>CCA412546858NR0B1c.1025A>G (p.His342Arg)
c.140A>G (p.His47Arg)
Xg.30308339T>GCA412546857NR0B1c.1025A>C (p.His342Pro)
c.140A>C (p.His47Pro)
Xg.30308340G>ACA412546869NR0B1c.1024C>T (p.His342Tyr)
c.139C>T (p.His47Tyr)
Xg.30308340G>CCA412546863NR0B1c.1024C>G (p.His342Asp)
c.139C>G (p.His47Asp)
Xg.30308340G=CA2422040408NR0B1c.1024C= (p.His342=)
c.139C= (p.His47=)
Xg.30308340G>TCA10376321NR0B1c.1024C>A (p.His342Asn)
c.139C>A (p.His47Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.30308341G>ACA515945930NR0B1c.1023C>T (p.His341=)
c.138C>T (p.His46=)
ClinVar
Xg.30308341G>CCA412546872NR0B1c.1023C>G (p.His341Gln)
c.138C>G (p.His46Gln)
Xg.30308341G=CA2422040409NR0B1c.1023C= (p.His341=)
c.138C= (p.His46=)
Xg.30308341G>TCA412546874NR0B1c.1023C>A (p.His341Gln)
c.138C>A (p.His46Gln)
dbSNP gnomAD v2 gnomAD v4
Xg.30308342T>ACA10376322NR0B1c.1022A>T (p.His341Leu)
c.137A>T (p.His46Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308342T>CCA327975884NR0B1c.1022A>G (p.His341Arg)
c.137A>G (p.His46Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308342T>GCA412546877NR0B1c.1022A>C (p.His341Pro)
c.137A>C (p.His46Pro)
Xg.30308342T=CA2422040410NR0B1c.1022A= (p.His341=)
c.137A= (p.His46=)
Xg.30308343G>ACA412546878NR0B1c.1021C>T (p.His341Tyr)
c.136C>T (p.His46Tyr)
Xg.30308343G>CCA412546879NR0B1c.1021C>G (p.His341Asp)
c.136C>G (p.His46Asp)
Xg.30308343G>TCA412546880NR0B1c.1021C>A (p.His341Asn)
c.136C>A (p.His46Asn)
Xg.30308344C>ACA412546881NR0B1c.1020G>T (p.Gln340His)
c.135G>T (p.Gln45His)
Xg.30308344C=CA2422040411NR0B1c.1020G= (p.Gln340=)
c.135G= (p.Gln45=)
Xg.30308344C>GCA412546882NR0B1c.1020G>C (p.Gln340His)
c.135G>C (p.Gln45His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308344C>TCA515945936NR0B1c.1020G>A (p.Gln340=)
c.135G>A (p.Gln45=)
ClinVar gnomAD v4
Xg.30308345T>ACA412546886NR0B1c.1019A>T (p.Gln340Leu)
c.134A>T (p.Gln45Leu)
Xg.30308345T>CCA412546888NR0B1c.1019A>G (p.Gln340Arg)
c.134A>G (p.Gln45Arg)
Xg.30308345T>GCA412546884NR0B1c.1019A>C (p.Gln340Pro)
c.134A>C (p.Gln45Pro)
Xg.30308346G>ACA412546890NR0B1c.1018C>T (p.Gln340Ter)
c.133C>T (p.Gln45Ter)
Xg.30308346G>CCA412546892NR0B1c.1018C>G (p.Gln340Glu)
c.133C>G (p.Gln45Glu)
Xg.30308346G>TCA412546899NR0B1c.1018C>A (p.Gln340Lys)
c.133C>A (p.Gln45Lys)
Xg.30308347C>ACA515945940NR0B1c.1017G>T (p.Leu339=)
c.132G>T (p.Leu44=)
Xg.30308347C>GCA515945942NR0B1c.1017G>C (p.Leu339=)
c.132G>C (p.Leu44=)
Xg.30308347C>TCA515945944NR0B1c.1017G>A (p.Leu339=)
c.132G>A (p.Leu44=)
Xg.30308348A>CCA412546902NR0B1c.1016T>G (p.Leu339Arg)
c.131T>G (p.Leu44Arg)
gnomAD v4
Xg.30308348A>GCA412546903NR0B1c.1016T>C (p.Leu339Pro)
c.131T>C (p.Leu44Pro)
Xg.30308348A>TCA412546905NR0B1c.1016T>A (p.Leu339Gln)
c.131T>A (p.Leu44Gln)
Xg.30308349G>ACA515945947NR0B1c.1015C>T (p.Leu339=)
c.130C>T (p.Leu44=)
Xg.30308349G>CCA412546908NR0B1c.1015C>G (p.Leu339Val)
c.130C>G (p.Leu44Val)
Xg.30308349G>TCA412546910NR0B1c.1015C>A (p.Leu339Met)
c.130C>A (p.Leu44Met)
Xg.30308350C>ACA515945948NR0B1c.1014G>T (p.Thr338=)
c.129G>T (p.Thr43=)
gnomAD v3 gnomAD v4
Xg.30308350C=CA2422040412NR0B1c.1014G= (p.Thr338=)
c.129G= (p.Thr43=)
Xg.30308350C>GCA515945950NR0B1c.1014G>C (p.Thr338=)
c.129G>C (p.Thr43=)
Xg.30308350C>TCA515945949NR0B1c.1014G>A (p.Thr338=)
c.129G>A (p.Thr43=)
dbSNP
Xg.30308351G>ACA10376323NR0B1c.1013C>T (p.Thr338Met)
c.128C>T (p.Thr43Met)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.30308351G>CCA412546912NR0B1c.1013C>G (p.Thr338Arg)
c.128C>G (p.Thr43Arg)
Xg.30308351G=CA2422040413NR0B1c.1013C= (p.Thr338=)
c.128C= (p.Thr43=)
Xg.30308351G>TCA412546913NR0B1c.1013C>A (p.Thr338Lys)
c.128C>A (p.Thr43Lys)
Xg.30308352T>ACA412546915NR0B1c.1012A>T (p.Thr338Ser)
c.127A>T (p.Thr43Ser)
Xg.30308352T>CCA412546917NR0B1c.1012A>G (p.Thr338Ala)
c.127A>G (p.Thr43Ala)
gnomAD v4
Xg.30308352T>GCA412546919NR0B1c.1012A>C (p.Thr338Pro)
c.127A>C (p.Thr43Pro)
Xg.30308353G>ACA515945952NR0B1c.1011C>T (p.Pro337=)
c.126C>T (p.Pro42=)
Xg.30308353G>CCA515945953NR0B1c.1011C>G (p.Pro337=)
c.126C>G (p.Pro42=)
gnomAD v4
Xg.30308353G>TCA515945954NR0B1c.1011C>A (p.Pro337=)
c.126C>A (p.Pro42=)
Xg.30308355delCA2695232170NR0B1c.1011del (p.Thr338ArgfsTer?)
c.126del (p.Thr43ArgfsTer?)
Xg.30308354G>ACA412546923NR0B1c.1010C>T (p.Pro337Leu)
c.125C>T (p.Pro42Leu)
Xg.30308354G>CCA412546925NR0B1c.1010C>G (p.Pro337Arg)
c.125C>G (p.Pro42Arg)
gnomAD v4
Xg.30308354G>TCA412546921NR0B1c.1010C>A (p.Pro337His)
c.125C>A (p.Pro42His)
Xg.30308355G>ACA412546929NR0B1c.1009C>T (p.Pro337Ser)
c.124C>T (p.Pro42Ser)
Xg.30308355G>CCA412546933NR0B1c.1009C>G (p.Pro337Ala)
c.124C>G (p.Pro42Ala)
Xg.30308355G>TCA412546930NR0B1c.1009C>A (p.Pro337Thr)
c.124C>A (p.Pro42Thr)
Xg.30308356C>ACA515945958NR0B1c.1008G>T (p.Val336=)
c.123G>T (p.Val41=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308356C=CA2422040414NR0B1c.1008G= (p.Val336=)
c.123G= (p.Val41=)
Xg.30308356C>GCA515945960NR0B1c.1008G>C (p.Val336=)
c.123G>C (p.Val41=)
Xg.30308356C>TCA515945959NR0B1c.1008G>A (p.Val336=)
c.123G>A (p.Val41=)
gnomAD v4
Xg.30308357A=CA2422040415NR0B1c.1007T= (p.Val336=)
c.122T= (p.Val41=)
Xg.30308357A>CCA412546935NR0B1c.1007T>G (p.Val336Gly)
c.122T>G (p.Val41Gly)
Xg.30308357A>GCA412546937NR0B1c.1007T>C (p.Val336Ala)
c.122T>C (p.Val41Ala)
Xg.30308357A>TCA412546939NR0B1c.1007T>A (p.Val336Glu)
c.122T>A (p.Val41Glu)
Xg.30308358C>ACA412546941NR0B1c.1006G>T (p.Val336Leu)
c.121G>T (p.Val41Leu)
Xg.30308358C>GCA412546943NR0B1c.1006G>C (p.Val336Leu)
c.121G>C (p.Val41Leu)
Xg.30308358C>TCA412546944NR0B1c.1006G>A (p.Val336Met)
c.121G>A (p.Val41Met)
Xg.30308358dupCA1139667337NR0B1c.1006dup (p.Val336GlyfsTer?)
c.121dup (p.Val41GlyfsTer?)
ClinVar dbSNP
Xg.30308359G>ACA515945966NR0B1c.1005C>T (p.Pro335=)
c.120C>T (p.Pro40=)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.30308359G>CCA515945967NR0B1c.1005C>G (p.Pro335=)
c.120C>G (p.Pro40=)
Xg.30308359G=CA2422040416NR0B1c.1005C= (p.Pro335=)
c.120C= (p.Pro40=)
Xg.30308359G>TCA515945970NR0B1c.1005C>A (p.Pro335=)
c.120C>A (p.Pro40=)
gnomAD v4
Xg.30308361delCA2739290472NR0B1c.1005del (p.Val336CysfsTer?)
c.120del (p.Val41CysfsTer?)
Xg.30308360G>ACA412546946NR0B1c.1004C>T (p.Pro335Leu)
c.119C>T (p.Pro40Leu)
gnomAD v4
Xg.30308360G>CCA412546948NR0B1c.1004C>G (p.Pro335Arg)
c.119C>G (p.Pro40Arg)
Xg.30308360G=CA2422040417NR0B1c.1004C= (p.Pro335=)
c.119C= (p.Pro40=)
Xg.30308360G>TCA10376324NR0B1c.1004C>A (p.Pro335His)
c.119C>A (p.Pro40His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308361G>ACA412546952NR0B1c.1003C>T (p.Pro335Ser)
c.118C>T (p.Pro40Ser)
dbSNP gnomAD v2
Xg.30308361G>CCA412546955NR0B1c.1003C>G (p.Pro335Ala)
c.118C>G (p.Pro40Ala)
Xg.30308361G=CA2422040418NR0B1c.1003C= (p.Pro335=)
c.118C= (p.Pro40=)
Xg.30308361G>TCA412546957NR0B1c.1003C>A (p.Pro335Thr)
c.118C>A (p.Pro40Thr)
Xg.30308362C>ACA515945973NR0B1c.1002G>T (p.Leu334=)
c.117G>T (p.Leu39=)
Xg.30308362C=CA2422040419NR0B1c.1002G= (p.Leu334=)
c.117G= (p.Leu39=)
Xg.30308362C>GCA515945975NR0B1c.1002G>C (p.Leu334=)
c.117G>C (p.Leu39=)
Xg.30308362C>TCA515945976NR0B1c.1002G>A (p.Leu334=)
c.117G>A (p.Leu39=)
Xg.30308363A>CCA412546963NR0B1c.1001T>G (p.Leu334Arg)
c.116T>G (p.Leu39Arg)
Xg.30308363A>GCA412546959NR0B1c.1001T>C (p.Leu334Pro)
c.116T>C (p.Leu39Pro)
Xg.30308363A>TCA412546961NR0B1c.1001T>A (p.Leu334Gln)
c.116T>A (p.Leu39Gln)
Xg.30308363_30308366dupCA1139667338NR0B1c.998_1001dup (p.Pro335ThrfsTer?)
c.113_116dup (p.Pro40ThrfsTer?)
ClinVar dbSNP
Xg.30308364G>ACA515945978NR0B1c.1000C>T (p.Leu334=)
c.115C>T (p.Leu39=)
Xg.30308364G>CCA412546965NR0B1c.1000C>G (p.Leu334Val)
c.115C>G (p.Leu39Val)
Xg.30308364G>TCA412546967NR0B1c.1000C>A (p.Leu334Met)
c.115C>A (p.Leu39Met)
Xg.30308365_30308366dupCA2695232171NR0B1c.999_1000dup (p.Leu334HisfsTer?)
c.114_115dup (p.Leu39HisfsTer?)
Xg.30308365T>ACA515945983NR0B1c.999A>T (p.Pro333=)
c.114A>T (p.Pro38=)
Xg.30308365T>CCA515945981NR0B1c.999A>G (p.Pro333=)
c.114A>G (p.Pro38=)
Xg.30308365T>GCA515945982NR0B1c.999A>C (p.Pro333=)
c.114A>C (p.Pro38=)
Xg.30308366G>ACA412546970NR0B1c.998C>T (p.Pro333Leu)
c.113C>T (p.Pro38Leu)
Xg.30308366G>CCA412546971NR0B1c.998C>G (p.Pro333Arg)
c.113C>G (p.Pro38Arg)
Xg.30308366G>TCA412546974NR0B1c.998C>A (p.Pro333Gln)
c.113C>A (p.Pro38Gln)
Xg.30308367G>ACA412546976NR0B1c.997C>T (p.Pro333Ser)
c.112C>T (p.Pro38Ser)
Xg.30308367G>CCA412546978NR0B1c.997C>G (p.Pro333Ala)
c.112C>G (p.Pro38Ala)
Xg.30308367G>TCA412546979NR0B1c.997C>A (p.Pro333Thr)
c.112C>A (p.Pro38Thr)
Xg.30308368C>ACA412546980NR0B1c.996G>T (p.Glu332Asp)
c.111G>T (p.Glu37Asp)
COSMIC COSMIC
Xg.30308368C=CA2422040420NR0B1c.996G= (p.Glu332=)
c.111G= (p.Glu37=)
Xg.30308368C>GCA412546982NR0B1c.996G>C (p.Glu332Asp)
c.111G>C (p.Glu37Asp)
Xg.30308368C>TCA515945993NR0B1c.996G>A (p.Glu332=)
c.111G>A (p.Glu37=)
dbSNP gnomAD v4
Xg.30308369T>ACA412546988NR0B1c.995A>T (p.Glu332Val)
c.110A>T (p.Glu37Val)
Xg.30308369T>CCA412546986NR0B1c.995A>G (p.Glu332Gly)
c.110A>G (p.Glu37Gly)
Xg.30308369T>GCA412546984NR0B1c.995A>C (p.Glu332Ala)
c.110A>C (p.Glu37Ala)
Xg.30308370C>ACA412546990NR0B1c.994G>T (p.Glu332Ter)
c.109G>T (p.Glu37Ter)
Xg.30308370C=CA2422040421NR0B1c.994G= (p.Glu332=)
c.109G= (p.Glu37=)
Xg.30308370C>GCA10376325NR0B1c.994G>C (p.Glu332Gln)
c.109G>C (p.Glu37Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308370C>TCA412546993NR0B1c.994G>A (p.Glu332Lys)
c.109G>A (p.Glu37Lys)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.30308371delCA2695232172NR0B1c.993del (p.Asn331LysfsTer?)
c.108del (p.Asn36LysfsTer?)
Xg.30308371G>ACA10376326NR0B1c.993C>T (p.Asn331=)
c.108C>T (p.Asn36=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308371G>CCA412546997NR0B1c.993C>G (p.Asn331Lys)
c.108C>G (p.Asn36Lys)
gnomAD v4
Xg.30308371G=CA2422040422NR0B1c.993C= (p.Asn331=)
c.108C= (p.Asn36=)
Xg.30308371G>TCA412546999NR0B1c.993C>A (p.Asn331Lys)
c.108C>A (p.Asn36Lys)
Xg.30308372T>ACA412547002NR0B1c.992A>T (p.Asn331Ile)
c.107A>T (p.Asn36Ile)
Xg.30308372T>CCA412547004NR0B1c.992A>G (p.Asn331Ser)
c.107A>G (p.Asn36Ser)
Xg.30308372T>GCA412547006NR0B1c.992A>C (p.Asn331Thr)
c.107A>C (p.Asn36Thr)
Xg.30308373T>ACA412547008NR0B1c.991A>T (p.Asn331Tyr)
c.106A>T (p.Asn36Tyr)
Xg.30308373T>CCA412547010NR0B1c.991A>G (p.Asn331Asp)
c.106A>G (p.Asn36Asp)
Xg.30308373T>GCA412547012NR0B1c.991A>C (p.Asn331His)
c.106A>C (p.Asn36His)
Xg.30308374G>ACA515946007NR0B1c.990C>T (p.Gly330=)
c.105C>T (p.Gly35=)
Xg.30308374G>CCA515946009NR0B1c.990C>G (p.Gly330=)
c.105C>G (p.Gly35=)
Xg.30308374G>TCA515946010NR0B1c.990C>A (p.Gly330=)
c.105C>A (p.Gly35=)
Xg.30308374_30308375delinsGCCA2422040423NR0B1c.989_990delinsGC (p.Gly330=)
c.104_105delinsGC (p.Gly35=)
Xg.30308375C>ACA412547016NR0B1c.989G>T (p.Gly330Val)
c.104G>T (p.Gly35Val)
Xg.30308375C=CA2422040424NR0B1c.989G= (p.Gly330=)
c.104G= (p.Gly35=)
Xg.30308375C>GCA412547015NR0B1c.989G>C (p.Gly330Ala)
c.104G>C (p.Gly35Ala)
Xg.30308375C>TCA412547014NR0B1c.989G>A (p.Gly330Asp)
c.104G>A (p.Gly35Asp)
ClinVar dbSNP gnomAD v4
Xg.30308379dupCA2695232173NR0B1c.989dup (p.Asn331GlnfsTer?)
c.104dup (p.Asn36GlnfsTer?)
Xg.30308379delCA874616083NR0B1c.989del (p.Gly330AlafsTer?)
c.104del (p.Gly35AlafsTer?)
dbSNP gnomAD v3 gnomAD v4
Xg.30308376C>ACA412547018NR0B1c.988G>T (p.Gly330Cys)
c.103G>T (p.Gly35Cys)
Xg.30308376C>GCA412547020NR0B1c.988G>C (p.Gly330Arg)
c.103G>C (p.Gly35Arg)
Xg.30308376C>TCA412547022NR0B1c.988G>A (p.Gly330Ser)
c.103G>A (p.Gly35Ser)
gnomAD v4
Xg.30308376_30308378delinsCCCCA2422040425NR0B1c.986_988delinsGGG (p.Gly329=)
c.101_103delinsGGG (p.Gly34=)
Xg.30308377C>ACA515946016NR0B1c.987G>T (p.Gly329=)
c.102G>T (p.Gly34=)
Xg.30308377C>GCA515946018NR0B1c.987G>C (p.Gly329=)
c.102G>C (p.Gly34=)
gnomAD v4
Xg.30308377C>TCA515946019NR0B1c.987G>A (p.Gly329=)
c.102G>A (p.Gly34=)
gnomAD v3 gnomAD v4
Xg.30308377_30308378delinsTCA1139667339NR0B1c.986_987delinsA (p.Gly329GlufsTer?)
c.101_102delinsA (p.Gly34GlufsTer?)
ClinVar dbSNP
Xg.30308378C>ACA412547025NR0B1c.986G>T (p.Gly329Val)
c.101G>T (p.Gly34Val)
Xg.30308378C=CA2422040426NR0B1c.986G= (p.Gly329=)
c.101G= (p.Gly34=)
Xg.30308378C>GCA412547027NR0B1c.986G>C (p.Gly329Ala)
c.101G>C (p.Gly34Ala)
Xg.30308378C>TCA412547029NR0B1c.986G>A (p.Gly329Glu)
c.101G>A (p.Gly34Glu)
dbSNP gnomAD v3 gnomAD v4
Xg.30308379C>ACA412547031NR0B1c.985G>T (p.Gly329Trp)
c.100G>T (p.Gly34Trp)
gnomAD v4
Xg.30308379C=CA2422040427NR0B1c.985G= (p.Gly329=)
c.100G= (p.Gly34=)
Xg.30308379C>GCA412547032NR0B1c.985G>C (p.Gly329Arg)
c.100G>C (p.Gly34Arg)
Xg.30308379C>TCA10376327NR0B1c.985G>A (p.Gly329Arg)
c.100G>A (p.Gly34Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.30308380G>ACA515946028NR0B1c.984C>T (p.Thr328=)
c.99C>T (p.Thr33=)
gnomAD v4
Xg.30308380G>CCA10376328NR0B1c.984C>G (p.Thr328=)
c.99C>G (p.Thr33=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308380G=CA2422040428NR0B1c.984C= (p.Thr328=)
c.99C= (p.Thr33=)
Xg.30308380G>TCA515946034NR0B1c.984C>A (p.Thr328=)
c.99C>A (p.Thr33=)
Xg.30308381G>ACA412547037NR0B1c.983C>T (p.Thr328Ile)
c.98C>T (p.Thr33Ile)
Xg.30308381G>CCA412547039NR0B1c.983C>G (p.Thr328Ser)
c.98C>G (p.Thr33Ser)
Xg.30308381G=CA2422040429NR0B1c.983C= (p.Thr328=)
c.98C= (p.Thr33=)
Xg.30308381G>TCA412547041NR0B1c.983C>A (p.Thr328Asn)
c.98C>A (p.Thr33Asn)
dbSNP gnomAD v2 gnomAD v4
Xg.30308382T>ACA412547048NR0B1c.982A>T (p.Thr328Ser)
c.97A>T (p.Thr33Ser)
Xg.30308382T>CCA412547046NR0B1c.982A>G (p.Thr328Ala)
c.97A>G (p.Thr33Ala)
Xg.30308382T>GCA412547044NR0B1c.982A>C (p.Thr328Pro)
c.97A>C (p.Thr33Pro)
Xg.30308383C>ACA412547051NR0B1c.981G>T (p.Glu327Asp)
c.96G>T (p.Glu32Asp)
Xg.30308383C=CA2422040430NR0B1c.981G= (p.Glu327=)
c.96G= (p.Glu32=)
Xg.30308383C>GCA10376329NR0B1c.981G>C (p.Glu327Asp)
c.96G>C (p.Glu32Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308383C>TCA515946039NR0B1c.981G>A (p.Glu327=)
c.96G>A (p.Glu32=)
Xg.30308384T>ACA412547055NR0B1c.980A>T (p.Glu327Val)
c.95A>T (p.Glu32Val)
Xg.30308384T>CCA412547059NR0B1c.980A>G (p.Glu327Gly)
c.95A>G (p.Glu32Gly)
Xg.30308384T>GCA412547057NR0B1c.980A>C (p.Glu327Ala)
c.95A>C (p.Glu32Ala)
Xg.30308385C>ACA412547061NR0B1c.979G>T (p.Glu327Ter)
c.94G>T (p.Glu32Ter)
COSMIC COSMIC
Xg.30308385C=CA2422040431NR0B1c.979G= (p.Glu327=)
c.94G= (p.Glu32=)
Xg.30308385C>GCA412547064NR0B1c.979G>C (p.Glu327Gln)
c.94G>C (p.Glu32Gln)
Xg.30308385C>TCA10376330NR0B1c.979G>A (p.Glu327Lys)
c.94G>A (p.Glu32Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308386C>ACA515946046NR0B1c.978G>T (p.Arg326=)
c.93G>T (p.Arg31=)
Xg.30308386C>GCA515946044NR0B1c.978G>C (p.Arg326=)
c.93G>C (p.Arg31=)
Xg.30308386C>TCA515946045NR0B1c.978G>A (p.Arg326=)
c.93G>A (p.Arg31=)
Xg.30308387C>ACA412547067NR0B1c.977G>T (p.Arg326Leu)
c.92G>T (p.Arg31Leu)
dbSNP
Xg.30308387C=CA2422040432NR0B1c.977G= (p.Arg326=)
c.92G= (p.Arg31=)
Xg.30308387C>GCA412547071NR0B1c.977G>C (p.Arg326Pro)
c.92G>C (p.Arg31Pro)
Xg.30308387C>TCA412547069NR0B1c.977G>A (p.Arg326Gln)
c.92G>A (p.Arg31Gln)
dbSNP gnomAD v2
Xg.30308388G>ACA412547074NR0B1c.976C>T (p.Arg326Trp)
c.91C>T (p.Arg31Trp)
Xg.30308388G>CCA412547076NR0B1c.976C>G (p.Arg326Gly)
c.91C>G (p.Arg31Gly)
Xg.30308388G>TCA515946056NR0B1c.976C>A (p.Arg326=)
c.91C>A (p.Arg31=)
Xg.30308389C>ACA515946060NR0B1c.975G>T (p.Arg325=)
c.90G>T (p.Arg30=)
Xg.30308389C=CA2422040433NR0B1c.975G= (p.Arg325=)
c.90G= (p.Arg30=)
Xg.30308389C>GCA515946061NR0B1c.975G>C (p.Arg325=)
c.90G>C (p.Arg30=)
Xg.30308389C>TCA515946062NR0B1c.975G>A (p.Arg325=)
c.90G>A (p.Arg30=)
dbSNP gnomAD v2 gnomAD v4
Xg.30308390C>ACA412547078NR0B1c.974G>T (p.Arg325Leu)
c.89G>T (p.Arg30Leu)
Xg.30308390C>GCA412547079NR0B1c.974G>C (p.Arg325Pro)
c.89G>C (p.Arg30Pro)
Xg.30308390C>TCA412547082NR0B1c.974G>A (p.Arg325Gln)
c.89G>A (p.Arg30Gln)
Xg.30308391delCA2695232174NR0B1c.973del (p.Arg325GlyfsTer?)
c.88del (p.Arg30GlyfsTer?)
Xg.30308391G>ACA10376331NR0B1c.973C>T (p.Arg325Trp)
c.88C>T (p.Arg30Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308391G>CCA412547085NR0B1c.973C>G (p.Arg325Gly)
c.88C>G (p.Arg30Gly)
dbSNP
Xg.30308391G=CA2422040434NR0B1c.973C= (p.Arg325=)
c.88C= (p.Arg30=)
Xg.30308391G>TCA515946064NR0B1c.973C>A (p.Arg325=)
c.88C>A (p.Arg30=)
Xg.30308392C>ACA412547088NR0B1c.972G>T (p.Arg324Ser)
c.87G>T (p.Arg29Ser)
Xg.30308392C>GCA412547089NR0B1c.972G>C (p.Arg324Ser)
c.87G>C (p.Arg29Ser)
Xg.30308392C>TCA515946068NR0B1c.972G>A (p.Arg324=)
c.87G>A (p.Arg29=)
Xg.30308393C>ACA412547091NR0B1c.971G>T (p.Arg324Met)
c.86G>T (p.Arg29Met)
Xg.30308393C>GCA412547092NR0B1c.971G>C (p.Arg324Thr)
c.86G>C (p.Arg29Thr)
Xg.30308393C>TCA412547094NR0B1c.971G>A (p.Arg324Lys)
c.86G>A (p.Arg29Lys)
Xg.30308394T>ACA412547096NR0B1c.970A>T (p.Arg324Trp)
c.85A>T (p.Arg29Trp)
Xg.30308394T>CCA412547098NR0B1c.970A>G (p.Arg324Gly)
c.85A>G (p.Arg29Gly)
Xg.30308394T>GCA515946070NR0B1c.970A>C (p.Arg324=)
c.85A>C (p.Arg29=)
Xg.30308399_30308401delCA2693386443NR0B1c.968_970del (p.Thr323del)
c.83_85del (p.Thr28del)
gnomAD v4
Xg.30308395G>ACA10376332NR0B1c.969C>T (p.Thr323=)
c.84C>T (p.Thr28=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.30308395G>CCA515946077NR0B1c.969C>G (p.Thr323=)
c.84C>G (p.Thr28=)
Xg.30308395G=CA2422040435NR0B1c.969C= (p.Thr323=)
c.84C= (p.Thr28=)
Xg.30308395G>TCA515946079NR0B1c.969C>A (p.Thr323=)
c.84C>A (p.Thr28=)
ClinVar
Xg.30308396G>ACA412547103NR0B1c.968C>T (p.Thr323Ile)
c.83C>T (p.Thr28Ile)
Xg.30308396G>CCA412547104NR0B1c.968C>G (p.Thr323Ser)
c.83C>G (p.Thr28Ser)
Xg.30308396G>TCA412547106NR0B1c.968C>A (p.Thr323Asn)
c.83C>A (p.Thr28Asn)
Xg.30308397T>ACA412547108NR0B1c.967A>T (p.Thr323Ser)
c.82A>T (p.Thr28Ser)
Xg.30308397T>CCA412547110NR0B1c.967A>G (p.Thr323Ala)
c.82A>G (p.Thr28Ala)
Xg.30308397T>GCA412547112NR0B1c.967A>C (p.Thr323Pro)
c.82A>C (p.Thr28Pro)
Xg.30308398G>ACA515946087NR0B1c.966C>T (p.Thr322=)
c.81C>T (p.Thr27=)
ClinVar
Xg.30308398G>CCA515946088NR0B1c.966C>G (p.Thr322=)
c.81C>G (p.Thr27=)
Xg.30308398G>TCA515946090NR0B1c.966C>A (p.Thr322=)
c.81C>A (p.Thr27=)
Xg.30308399_30308415delCA2695232175NR0B1c.950_966del (p.Leu317HisfsTer?)
c.65_81del (p.Leu22HisfsTer?)
Xg.30308399G>ACA412547115NR0B1c.965C>T (p.Thr322Ile)
c.80C>T (p.Thr27Ile)
Xg.30308399G>CCA10376333NR0B1c.965C>G (p.Thr322Ser)
c.80C>G (p.Thr27Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308399G=CA2422040436NR0B1c.965C= (p.Thr322=)
c.80C= (p.Thr27=)
Xg.30308399G>TCA412547117NR0B1c.965C>A (p.Thr322Asn)
c.80C>A (p.Thr27Asn)

Number of alleles fetched