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.102844347delCA229311PAHc.1055del (p.Gly352ValfsTer?)
c.1040del (p.Gly347ValfsTer?)
n.814del
n.717del
c.159del
n.570del
c.998del (p.Gly333ValfsTer?)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
12g.102844347C>ACA229309PAHc.1054G>T (p.Gly352Cys)
c.1039G>T (p.Gly347Cys)
n.813G>T
n.716G>T
c.158G>T
n.569G>T
c.997G>T (p.Gly333Cys)
ClinVar dbSNP gnomAD v4
12g.102844347C=CA2059448042PAHc.1054G= (p.Gly352=)
c.1039G= (p.Gly347=)
n.813G=
n.716G=
c.158G=
n.569G=
c.997G= (p.Gly333=)
12g.102844347C>GCA229307PAHc.1054G>C (p.Gly352Arg)
c.1039G>C (p.Gly347Arg)
n.813G>C
n.716G>C
c.158G>C
n.569G>C
c.997G>C (p.Gly333Arg)
ClinVar dbSNP
12g.102844347C>TCA386493398PAHc.1054G>A (p.Gly352Ser)
c.1039G>A (p.Gly347Ser)
n.813G>A
n.716G>A
c.158G>A
n.569G>A
c.997G>A (p.Gly333Ser)
gnomAD v4 COSMIC
12g.102844347_102844358delinsCAAAGGATGACACA2059448048PAHc.1043_1054delinsTGTCATCCTTTG (p.Leu348=)
c.1028_1039delinsTGTCATCCTTTG (p.Leu343=)
n.802_813delinsTGTCATCCTTTG
n.705_716delinsTGTCATCCTTTG
c.147_158delinsTGTCATCCTTTG
n.558_569delinsTGTCATCCTTTG
c.986_997delinsTGTCATCCTTTG (p.Leu329=)
12g.102844348A>CCA386493399PAHc.1053T>G (p.Phe351Leu)
c.1038T>G (p.Phe346Leu)
n.812T>G
n.715T>G
c.157T>G
n.568T>G
c.996T>G (p.Phe332Leu)
12g.102844348A>GCA481375741PAHc.1053T>C (p.Phe351=)
c.1038T>C (p.Phe346=)
n.812T>C
n.715T>C
c.157T>C
n.568T>C
c.996T>C (p.Phe332=)
12g.102844348A>TCA386493400PAHc.1053T>A (p.Phe351Leu)
c.1038T>A (p.Phe346Leu)
n.812T>A
n.715T>A
c.157T>A
n.568T>A
c.996T>A (p.Phe332Leu)
12g.102844348_102844358delCA229297PAHc.1043_1053del (p.Leu348ArgfsTer2)
c.1028_1038del (p.Leu343ArgfsTer2)
n.802_812del
n.705_715del
c.147_157del
n.558_568del
c.986_996del (p.Leu329ArgfsTer2)
ClinVar dbSNP
12g.102844349A>CCA386493401PAHc.1052T>G (p.Phe351Cys)
c.1037T>G (p.Phe346Cys)
n.811T>G
n.714T>G
c.156T>G
n.567T>G
c.995T>G (p.Phe332Cys)
12g.102844349A>GCA386493402PAHc.1052T>C (p.Phe351Ser)
c.1037T>C (p.Phe346Ser)
n.811T>C
n.714T>C
c.156T>C
n.567T>C
c.995T>C (p.Phe332Ser)
12g.102844349A>TCA386493403PAHc.1052T>A (p.Phe351Tyr)
c.1037T>A (p.Phe346Tyr)
n.811T>A
n.714T>A
c.156T>A
n.567T>A
c.995T>A (p.Phe332Tyr)
12g.102844350A>CCA386493404PAHc.1051T>G (p.Phe351Val)
c.1036T>G (p.Phe346Val)
n.810T>G
n.713T>G
c.155T>G
n.566T>G
c.994T>G (p.Phe332Val)
12g.102844350A>GCA386493405PAHc.1051T>C (p.Phe351Leu)
c.1036T>C (p.Phe346Leu)
n.810T>C
n.713T>C
c.155T>C
n.566T>C
c.994T>C (p.Phe332Leu)
gnomAD v4
12g.102844350A>TCA386493406PAHc.1051T>A (p.Phe351Ile)
c.1036T>A (p.Phe346Ile)
n.810T>A
n.713T>A
c.155T>A
n.566T>A
c.994T>A (p.Phe332Ile)
12g.102844351G>ACA481375742PAHc.1050C>T (p.Ser350=)
c.1035C>T (p.Ser345=)
n.809C>T
n.712C>T
c.154C>T
n.565C>T
c.993C>T (p.Ser331=)
COSMIC
12g.102844351G>CCA481375743PAHc.1050C>G (p.Ser350=)
c.1035C>G (p.Ser345=)
n.809C>G
n.712C>G
c.154C>G
n.565C>G
c.993C>G (p.Ser331=)
ClinVar dbSNP
12g.102844351G>TCA481375744PAHc.1050C>A (p.Ser350=)
c.1035C>A (p.Ser345=)
n.809C>A
n.712C>A
c.154C>A
n.565C>A
c.993C>A (p.Ser331=)
ClinVar
12g.102844352G>ACA386493407PAHc.1049C>T (p.Ser350Phe)
c.1034C>T (p.Ser345Phe)
n.808C>T
n.711C>T
c.153C>T
n.564C>T
c.992C>T (p.Ser331Phe)
COSMIC
12g.102844352G>CCA386493408PAHc.1049C>G (p.Ser350Cys)
c.1034C>G (p.Ser345Cys)
n.808C>G
n.711C>G
c.153C>G
n.564C>G
c.992C>G (p.Ser331Cys)
ClinVar
12g.102844352G=CA2059448060PAHc.1049C= (p.Ser350=)
c.1034C= (p.Ser345=)
n.808C=
n.711C=
c.153C=
n.564C=
c.992C= (p.Ser331=)
12g.102844352G>TCA229305PAHc.1049C>A (p.Ser350Tyr)
c.1034C>A (p.Ser345Tyr)
n.808C>A
n.711C>A
c.153C>A
n.564C>A
c.992C>A (p.Ser331Tyr)
ClinVar dbSNP
12g.102844353A=CA2059448066PAHc.1048T= (p.Ser350=)
c.1033T= (p.Ser345=)
n.807T=
n.710T=
c.152T=
n.563T=
c.991T= (p.Ser331=)
12g.102844353A>CCA386493410PAHc.1048T>G (p.Ser350Ala)
c.1033T>G (p.Ser345Ala)
n.807T>G
n.710T>G
c.152T>G
n.563T>G
c.991T>G (p.Ser331Ala)
12g.102844353A>GCA386493409PAHc.1048T>C (p.Ser350Pro)
c.1033T>C (p.Ser345Pro)
n.807T>C
n.710T>C
c.152T>C
n.563T>C
c.991T>C (p.Ser331Pro)
12g.102844353A>TCA229304PAHc.1048T>A (p.Ser350Thr)
c.1033T>A (p.Ser345Thr)
n.807T>A
n.710T>A
c.152T>A
n.563T>A
c.991T>A (p.Ser331Thr)
ClinVar dbSNP
12g.102844354T>ACA6748763PAHc.1047A>T (p.Ser349=)
c.1032A>T (p.Ser344=)
n.806A>T
n.709A>T
c.151A>T
n.562A>T
c.990A>T (p.Ser330=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.102844354T>CCA481375745PAHc.1047A>G (p.Ser349=)
c.1032A>G (p.Ser344=)
n.806A>G
n.709A>G
c.151A>G
n.562A>G
c.990A>G (p.Ser330=)
12g.102844354T>GCA481375746PAHc.1047A>C (p.Ser349=)
c.1032A>C (p.Ser344=)
n.806A>C
n.709A>C
c.151A>C
n.562A>C
c.990A>C (p.Ser330=)
12g.102844354T=CA2059448077PAHc.1047A= (p.Ser349=)
c.1032A= (p.Ser344=)
n.806A=
n.709A=
c.151A=
n.562A=
c.990A= (p.Ser330=)
12g.102844354_102844357dupCA229303PAHc.1044_1047dup (p.Ser350ValfsTer5)
c.1029_1032dup (p.Ser345ValfsTer5)
n.803_806dup
n.706_709dup
c.148_151dup
n.559_562dup
c.987_990dup (p.Ser331ValfsTer5)
ClinVar dbSNP
12g.102844355G>ACA229302PAHc.1046C>T (p.Ser349Leu)
c.1031C>T (p.Ser344Leu)
n.805C>T
n.708C>T
c.150C>T
n.561C>T
c.989C>T (p.Ser330Leu)
ClinVar dbSNP
12g.102844355G>CCA386493411PAHc.1046C>G (p.Ser349Ter)
c.1031C>G (p.Ser344Ter)
n.805C>G
n.708C>G
c.150C>G
n.561C>G
c.989C>G (p.Ser330Ter)
12g.102844355G=CA2059448088PAHc.1046C= (p.Ser349=)
c.1031C= (p.Ser344=)
n.805C=
n.708C=
c.150C=
n.561C=
c.989C= (p.Ser330=)
12g.102844355G>TCA229300PAHc.1046C>A (p.Ser349Ter)
c.1031C>A (p.Ser344Ter)
n.805C>A
n.708C>A
c.150C>A
n.561C>A
c.989C>A (p.Ser330Ter)
ClinVar dbSNP
12g.102844355_102844356delinsCGCA913187351PAHc.1045_1046delinsCG (p.Ser349Arg)
c.1030_1031delinsCG (p.Ser344Arg)
n.804_805delinsCG
n.707_708delinsCG
c.149_150delinsCG
n.560_561delinsCG
c.988_989delinsCG (p.Ser330Arg)
12g.102844356A=CA2059448099PAHc.1045T= (p.Ser349=)
c.1030T= (p.Ser344=)
n.804T=
n.707T=
c.149T=
n.560T=
c.988T= (p.Ser330=)
12g.102844356A>CCA229298PAHc.1045T>G (p.Ser349Ala)
c.1030T>G (p.Ser344Ala)
n.804T>G
n.707T>G
c.149T>G
n.560T>G
c.988T>G (p.Ser330Ala)
ClinVar dbSNP
12g.102844356A>GCA251542PAHc.1045T>C (p.Ser349Pro)
c.1030T>C (p.Ser344Pro)
n.804T>C
n.707T>C
c.149T>C
n.560T>C
c.988T>C (p.Ser330Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102844356A>TCA386493412PAHc.1045T>A (p.Ser349Thr)
c.1030T>A (p.Ser344Thr)
n.804T>A
n.707T>A
c.149T>A
n.560T>A
c.988T>A (p.Ser330Thr)
12g.102844357C>ACA481375749PAHc.1044G>T (p.Leu348=)
c.1029G>T (p.Leu343=)
n.803G>T
n.706G>T
c.148G>T
n.559G>T
c.987G>T (p.Leu329=)
12g.102844357C>GCA481375750PAHc.1044G>C (p.Leu348=)
c.1029G>C (p.Leu343=)
n.803G>C
n.706G>C
c.148G>C
n.559G>C
c.987G>C (p.Leu329=)
12g.102844357C>TCA481375751PAHc.1044G>A (p.Leu348=)
c.1029G>A (p.Leu343=)
n.803G>A
n.706G>A
c.148G>A
n.559G>A
c.987G>A (p.Leu329=)
gnomAD v4
12g.102844360_102844367delCA2695217228PAHc.1037_1044del (p.Gly346ValfsTer5)
c.1022_1029del (p.Gly341ValfsTer5)
n.796_803del
n.699_706del
c.141_148del
n.552_559del
c.980_987del (p.Gly327ValfsTer5)
12g.102844358A=CA2059448111PAHc.1043T= (p.Leu348=)
c.1028T= (p.Leu343=)
n.802T=
n.705T=
c.147T=
n.558T=
c.986T= (p.Leu329=)
12g.102844358A>CCA386493413PAHc.1043T>G (p.Leu348Arg)
c.1028T>G (p.Leu343Arg)
n.802T>G
n.705T>G
c.147T>G
n.558T>G
c.986T>G (p.Leu329Arg)
12g.102844358A>GCA16020922PAHc.1043T>C (p.Leu348Pro)
c.1028T>C (p.Leu343Pro)
n.802T>C
n.705T>C
c.147T>C
n.558T>C
c.986T>C (p.Leu329Pro)
ClinVar dbSNP gnomAD v4
12g.102844358A>TCA386493414PAHc.1043T>A (p.Leu348Gln)
c.1028T>A (p.Leu343Gln)
n.802T>A
n.705T>A
c.147T>A
n.558T>A
c.986T>A (p.Leu329Gln)
gnomAD v4

Number of alleles fetched