Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102843648_102846953delCA251545PAHc.914_1199+1del
c.899_1184+1del
n.673_958+1del
n.576_861+1del
c.74-2519_303+1del
n.429_714+1del
c.913-2519_1142+1del
ClinVar
12g.102844381_102844394dupCA2739277285PAHc.1011_1024dup (p.Ala342GlufsTer4)
c.996_1009dup (p.Ala337GlufsTer4)
n.770_783dup
n.673_686dup
c.115_128dup
n.526_539dup
c.954_967dup (p.Ala323GlufsTer4)
12g.102844381delCA2620508480PAHc.1022del (p.Lys341ArgfsTer?)
c.1007del (p.Lys336ArgfsTer?)
n.781del
n.684del
c.126del
n.537del
c.965del (p.Lys322ArgfsTer?)
gnomAD v4
12g.102844380_102844381delCA2620508481PAHc.1021_1022del (p.Lys341GlyfsTer12)
c.1006_1007del (p.Lys336GlyfsTer12)
n.780_781del
n.683_684del
c.125_126del
n.536_537del
c.964_965del (p.Lys322GlyfsTer12)
gnomAD v4
12g.102844380T>ACA229272PAHc.1021A>T (p.Lys341Ter)
c.1006A>T (p.Lys336Ter)
n.780A>T
n.683A>T
c.125A>T
n.536A>T
c.964A>T (p.Lys322Ter)
ClinVar dbSNP
12g.102844380T>CCA386493438PAHc.1021A>G (p.Lys341Glu)
c.1006A>G (p.Lys336Glu)
n.780A>G
n.683A>G
c.125A>G
n.536A>G
c.964A>G (p.Lys322Glu)
12g.102844380T>GCA386493439PAHc.1021A>C (p.Lys341Gln)
c.1006A>C (p.Lys336Gln)
n.780A>C
n.683A>C
c.125A>C
n.536A>C
c.964A>C (p.Lys322Gln)
12g.102844380T=CA2059448342PAHc.1021A= (p.Lys341=)
c.1006A= (p.Lys336=)
n.780A=
n.683A=
c.125A=
n.536A=
c.964A= (p.Lys322=)
12g.102844381T>ACA481375767PAHc.1020A>T (p.Ile340=)
c.1005A>T (p.Ile335=)
n.779A>T
n.682A>T
c.124A>T
n.535A>T
c.963A>T (p.Ile321=)
12g.102844381T>CCA386493440PAHc.1020A>G (p.Ile340Met)
c.1005A>G (p.Ile335Met)
n.779A>G
n.682A>G
c.124A>G
n.535A>G
c.963A>G (p.Ile321Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.102844381T>GCA481375768PAHc.1020A>C (p.Ile340=)
c.1005A>C (p.Ile335=)
n.779A>C
n.682A>C
c.124A>C
n.535A>C
c.963A>C (p.Ile321=)
12g.102844381T=CA2059448348PAHc.1020A= (p.Ile340=)
c.1005A= (p.Ile335=)
n.779A=
n.682A=
c.124A=
n.535A=
c.963A= (p.Ile321=)
12g.102844382A=CA2059448359PAHc.1019T= (p.Ile340=)
c.1004T= (p.Ile335=)
n.778T=
n.681T=
c.123T=
n.534T=
c.962T= (p.Ile321=)
12g.102844382A>CCA386493441PAHc.1019T>G (p.Ile340Arg)
c.1004T>G (p.Ile335Arg)
n.778T>G
n.681T>G
c.123T>G
n.534T>G
c.962T>G (p.Ile321Arg)
12g.102844382A>GCA229270PAHc.1019T>C (p.Ile340Thr)
c.1004T>C (p.Ile335Thr)
n.778T>C
n.681T>C
c.123T>C
n.534T>C
c.962T>C (p.Ile321Thr)
ClinVar dbSNP gnomAD v4
12g.102844382A>TCA386493442PAHc.1019T>A (p.Ile340Lys)
c.1004T>A (p.Ile335Lys)
n.778T>A
n.681T>A
c.123T>A
n.534T>A
c.962T>A (p.Ile321Lys)
12g.102844383T>ACA386493443PAHc.1018A>T (p.Ile340Leu)
c.1003A>T (p.Ile335Leu)
n.777A>T
n.680A>T
c.122A>T
n.533A>T
c.961A>T (p.Ile321Leu)
12g.102844383T>CCA386493444PAHc.1018A>G (p.Ile340Val)
c.1003A>G (p.Ile335Val)
n.777A>G
n.680A>G
c.122A>G
n.533A>G
c.961A>G (p.Ile321Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.102844383T>GCA386493445PAHc.1018A>C (p.Ile340Leu)
c.1003A>C (p.Ile335Leu)
n.777A>C
n.680A>C
c.122A>C
n.533A>C
c.961A>C (p.Ile321Leu)
gnomAD v4
12g.102844383T=CA2059448367PAHc.1018A= (p.Ile340=)
c.1003A= (p.Ile335=)
n.777A=
n.680A=
c.122A=
n.533A=
c.961A= (p.Ile321=)
12g.102844384G>ACA481375770PAHc.1017C>T (p.Ser339=)
c.1002C>T (p.Ser334=)
n.776C>T
n.679C>T
c.121C>T
n.532C>T
c.960C>T (p.Ser320=)
12g.102844384G>CCA481375769PAHc.1017C>G (p.Ser339=)
c.1002C>G (p.Ser334=)
n.776C>G
n.679C>G
c.121C>G
n.532C>G
c.960C>G (p.Ser320=)
12g.102844384G>TCA481375771PAHc.1017C>A (p.Ser339=)
c.1002C>A (p.Ser334=)
n.776C>A
n.679C>A
c.121C>A
n.532C>A
c.960C>A (p.Ser320=)
12g.102844385G>ACA386493446PAHc.1016C>T (p.Ser339Phe)
c.1001C>T (p.Ser334Phe)
n.775C>T
n.678C>T
c.120C>T
n.531C>T
c.959C>T (p.Ser320Phe)
ClinVar
12g.102844385G>CCA386493447PAHc.1016C>G (p.Ser339Cys)
c.1001C>G (p.Ser334Cys)
n.775C>G
n.678C>G
c.120C>G
n.531C>G
c.959C>G (p.Ser320Cys)
gnomAD v4
12g.102844385G>TCA386493448PAHc.1016C>A (p.Ser339Tyr)
c.1001C>A (p.Ser334Tyr)
n.775C>A
n.678C>A
c.120C>A
n.531C>A
c.959C>A (p.Ser320Tyr)
12g.102844386A>CCA386493449PAHc.1015T>G (p.Ser339Ala)
c.1000T>G (p.Ser334Ala)
n.774T>G
n.677T>G
c.119T>G
n.530T>G
c.958T>G (p.Ser320Ala)
12g.102844386A>GCA386493451PAHc.1015T>C (p.Ser339Pro)
c.1000T>C (p.Ser334Pro)
n.774T>C
n.677T>C
c.119T>C
n.530T>C
c.958T>C (p.Ser320Pro)
12g.102844386A>TCA386493450PAHc.1015T>A (p.Ser339Thr)
c.1000T>A (p.Ser334Thr)
n.774T>A
n.677T>A
c.119T>A
n.530T>A
c.958T>A (p.Ser320Thr)
12g.102844387G>ACA481375772PAHc.1014C>T (p.Asp338=)
c.999C>T (p.Asp333=)
n.773C>T
n.676C>T
c.118C>T
n.529C>T
c.957C>T (p.Asp319=)
12g.102844387G>CCA386493452PAHc.1014C>G (p.Asp338Glu)
c.999C>G (p.Asp333Glu)
n.773C>G
n.676C>G
c.118C>G
n.529C>G
c.957C>G (p.Asp319Glu)
12g.102844387G>TCA386493453PAHc.1014C>A (p.Asp338Glu)
c.999C>A (p.Asp333Glu)
n.773C>A
n.676C>A
c.118C>A
n.529C>A
c.957C>A (p.Asp319Glu)
12g.102844388T>ACA386493454PAHc.1013A>T (p.Asp338Val)
c.998A>T (p.Asp333Val)
n.772A>T
n.675A>T
c.117A>T
n.528A>T
c.956A>T (p.Asp319Val)
gnomAD v4
12g.102844388T>CCA386493455PAHc.1013A>G (p.Asp338Gly)
c.998A>G (p.Asp333Gly)
n.772A>G
n.675A>G
c.117A>G
n.528A>G
c.956A>G (p.Asp319Gly)
gnomAD v4
12g.102844388T>GCA386493456PAHc.1013A>C (p.Asp338Ala)
c.998A>C (p.Asp333Ala)
n.772A>C
n.675A>C
c.117A>C
n.528A>C
c.956A>C (p.Asp319Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.102844388T=CA2059448372PAHc.1013A= (p.Asp338=)
c.998A= (p.Asp333=)
n.772A=
n.675A=
c.117A=
n.528A=
c.956A= (p.Asp319=)
12g.102844389C>ACA229269PAHc.1012G>T (p.Asp338Tyr)
c.997G>T (p.Asp333Tyr)
n.771G>T
n.674G>T
c.116G>T
n.527G>T
c.955G>T (p.Asp319Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.102844389C=CA2059448375PAHc.1012G= (p.Asp338=)
c.997G= (p.Asp333=)
n.771G=
n.674G=
c.116G=
n.527G=
c.955G= (p.Asp319=)
12g.102844389C>GCA386493457PAHc.1012G>C (p.Asp338His)
c.997G>C (p.Asp333His)
n.771G>C
n.674G>C
c.116G>C
n.527G>C
c.955G>C (p.Asp319His)
12g.102844389C>TCA386493458PAHc.1012G>A (p.Asp338Asn)
c.997G>A (p.Asp333Asn)
n.771G>A
n.674G>A
c.116G>A
n.527G>A
c.955G>A (p.Asp319Asn)
dbSNP gnomAD v3 gnomAD v4
12g.102844390T>ACA481375773PAHc.1011A>T (p.Gly337=)
c.996A>T (p.Gly332=)
n.770A>T
n.673A>T
c.115A>T
n.526A>T
c.954A>T (p.Gly318=)
12g.102844390T>CCA481375774PAHc.1011A>G (p.Gly337=)
c.996A>G (p.Gly332=)
n.770A>G
n.673A>G
c.115A>G
n.526A>G
c.954A>G (p.Gly318=)
12g.102844390T>GCA481375775PAHc.1011A>C (p.Gly337=)
c.996A>C (p.Gly332=)
n.770A>C
n.673A>C
c.115A>C
n.526A>C
c.954A>C (p.Gly318=)
12g.102844391C>ACA229268PAHc.1010G>T (p.Gly337Val)
c.995G>T (p.Gly332Val)
n.769G>T
n.672G>T
c.114G>T
n.525G>T
c.953G>T (p.Gly318Val)
ClinVar dbSNP
12g.102844391C=CA2059448379PAHc.1010G= (p.Gly337=)
c.995G= (p.Gly332=)
n.769G=
n.672G=
c.114G=
n.525G=
c.953G= (p.Gly318=)
12g.102844391C>GCA386493459PAHc.1010G>C (p.Gly337Ala)
c.995G>C (p.Gly332Ala)
n.769G>C
n.672G>C
c.114G>C
n.525G>C
c.953G>C (p.Gly318Ala)
12g.102844391C>TCA6748767PAHc.1010G>A (p.Gly337Glu)
c.995G>A (p.Gly332Glu)
n.769G>A
n.672G>A
c.114G>A
n.525G>A
c.953G>A (p.Gly318Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102844392C>ACA386493460PAHc.1009G>T (p.Gly337Ter)
c.994G>T (p.Gly332Ter)
n.768G>T
n.671G>T
c.113G>T
n.524G>T
c.952G>T (p.Gly318Ter)
gnomAD v4
12g.102844392C>GCA386493461PAHc.1009G>C (p.Gly337Arg)
c.994G>C (p.Gly332Arg)
n.768G>C
n.671G>C
c.113G>C
n.524G>C
c.952G>C (p.Gly318Arg)
12g.102844392C>TCA386493462PAHc.1009G>A (p.Gly337Arg)
c.994G>A (p.Gly332Arg)
n.768G>A
n.671G>A
c.113G>A
n.524G>A
c.952G>A (p.Gly318Arg)

Number of alleles fetched