Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44351621T>ACA399765257GRNc.1005T>A (p.Cys335Ter)
c.446T>A
c.534T>A (p.Cys178Ter)
n.263T>A
17g.44351621T>CCA500621989GRNc.1005T>C (p.Cys335=)
c.446T>C
c.534T>C (p.Cys178=)
n.263T>C
17g.44351621T>GCA399765258GRNc.1005T>G (p.Cys335Trp)
c.446T>G
c.534T>G (p.Cys178Trp)
n.263T>G
17g.44351622G>ACA399765261GRNc.1006G>A (p.Glu336Lys)
c.447G>A
c.535G>A (p.Glu179Lys)
n.264G>A
17g.44351622G>CCA399765263GRNc.1006G>C (p.Glu336Gln)
c.447G>C
c.535G>C (p.Glu179Gln)
n.264G>C
ClinVar dbSNP gnomAD v4
17g.44351622G=CA2261354245GRNc.1006G= (p.Glu336=)
c.447G=
c.535G= (p.Glu179=)
n.264G=
17g.44351622G>TCA399765264GRNc.1006G>T (p.Glu336Ter)
c.447G>T
c.535G>T (p.Glu179Ter)
n.264G>T
17g.44351623A>CCA399765267GRNc.1007A>C (p.Glu336Ala)
c.448A>C
c.536A>C (p.Glu179Ala)
n.265A>C
17g.44351623A>GCA399765269GRNc.1007A>G (p.Glu336Gly)
c.448A>G
c.536A>G (p.Glu179Gly)
n.265A>G
17g.44351623A>TCA399765271GRNc.1007A>T (p.Glu336Val)
c.448A>T
c.536A>T (p.Glu179Val)
n.265A>T
17g.44351624dupCA2638209639GRNc.1008dup (p.Gln337ThrfsTer?)
c.449dup
c.537dup (p.Gln180ThrfsTer?)
n.266dup
gnomAD v4
17g.44351624A>CCA399765273GRNc.1008A>C (p.Glu336Asp)
c.449A>C
c.537A>C (p.Glu179Asp)
n.266A>C
gnomAD v4
17g.44351624A>GCA500621992GRNc.1008A>G (p.Glu336=)
c.449A>G
c.537A>G (p.Glu179=)
n.266A>G
17g.44351624A>TCA399765275GRNc.1008A>T (p.Glu336Asp)
c.449A>T
c.537A>T (p.Glu179Asp)
n.266A>T
17g.44351625C>ACA399765278GRNc.1009C>A (p.Gln337Lys)
c.450C>A
c.538C>A (p.Gln180Lys)
n.267C>A
17g.44351625C=CA2261354246GRNc.1009C= (p.Gln337=)
c.450C=
c.538C= (p.Gln180=)
n.267C=
17g.44351625C>GCA399765279GRNc.1009C>G (p.Gln337Glu)
c.450C>G
c.538C>G (p.Gln180Glu)
n.267C>G
17g.44351625C>TCA225308GRNc.1009C>T (p.Gln337Ter)
c.450C>T
c.538C>T (p.Gln180Ter)
n.267C>T
ClinVar dbSNP gnomAD v4
17g.44351625_44351627delinsCAGCA2261354247GRNc.1009_1011delinsCAG (p.Gln337=)
c.450_452delinsCAG
c.538_540delinsCAG (p.Gln180=)
n.267_269delinsCAG
17g.44351629_44351640delCA2695226228GRNc.1013_1024del (p.Gly338_Gln341del)
c.454_465del
c.542_553del (p.Gly181_Gln184del)
n.271_282del
17g.44351626A>CCA399765285GRNc.1010A>C (p.Gln337Pro)
c.451A>C
c.539A>C (p.Gln180Pro)
n.268A>C
17g.44351626A>GCA399765287GRNc.1010A>G (p.Gln337Arg)
c.451A>G
c.539A>G (p.Gln180Arg)
n.268A>G
17g.44351626A>TCA399765283GRNc.1010A>T (p.Gln337Leu)
c.451A>T
c.539A>T (p.Gln180Leu)
n.268A>T
17g.44351626_44351627delCA915950151GRNc.1010_1011del (p.Gln337ArgfsTer30)
c.451_452del
c.539_540del (p.Gln180ArgfsTer30)
n.268_269del
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.44351627G>ACA500621995GRNc.1011G>A (p.Gln337=)
c.452G>A
c.540G>A (p.Gln180=)
n.269G>A
17g.44351627G>CCA399765289GRNc.1011G>C (p.Gln337His)
c.452G>C
c.540G>C (p.Gln180His)
n.269G>C
ClinVar
17g.44351627G>TCA399765291GRNc.1011G>T (p.Gln337His)
c.452G>T
c.540G>T (p.Gln180His)
n.269G>T
17g.44351630delCA2695226229GRNc.1014del (p.His340ThrfsTer21)
c.455del
c.543del (p.His183ThrfsTer21)
n.272del
17g.44351628G>ACA399765293GRNc.1012G>A (p.Gly338Arg)
c.453G>A
c.541G>A (p.Gly181Arg)
n.270G>A
dbSNP gnomAD v4
17g.44351628G>CCA399765295GRNc.1012G>C (p.Gly338Arg)
c.453G>C
c.541G>C (p.Gly181Arg)
n.270G>C
17g.44351628G=CA2261354248GRNc.1012G= (p.Gly338=)
c.453G=
c.541G= (p.Gly181=)
n.270G=
17g.44351628G>TCA399765297GRNc.1012G>T (p.Gly338Trp)
c.453G>T
c.541G>T (p.Gly181Trp)
n.270G>T
17g.44351628_44351629delinsCCA2695226230GRNc.1012_1013delinsC (p.Gly338ArgfsTer23)
c.453_454delinsC
c.541_542delinsC (p.Gly181ArgfsTer23)
n.270_271delinsC
17g.44351629G>ACA399765299GRNc.1013G>A (p.Gly338Glu)
c.454G>A
c.542G>A (p.Gly181Glu)
n.271G>A
17g.44351629G>CCA399765300GRNc.1013G>C (p.Gly338Ala)
c.454G>C
c.542G>C (p.Gly181Ala)
n.271G>C
17g.44351629G>TCA399765301GRNc.1013G>T (p.Gly338Val)
c.454G>T
c.542G>T (p.Gly181Val)
n.271G>T
17g.44351630G>ACA290926400GRNc.1014G>A (p.Gly338=)
c.455G>A
c.543G>A (p.Gly181=)
n.272G>A
dbSNP gnomAD v4
17g.44351630G>CCA500622000GRNc.1014G>C (p.Gly338=)
c.455G>C
c.543G>C (p.Gly181=)
n.272G>C
17g.44351630G=CA2261354249GRNc.1014G= (p.Gly338=)
c.455G=
c.543G= (p.Gly181=)
n.272G=
17g.44351630G>TCA500622001GRNc.1014G>T (p.Gly338=)
c.455G>T
c.543G>T (p.Gly181=)
n.272G>T
17g.44351631C>ACA399765304GRNc.1015C>A (p.Pro339Thr)
c.456C>A
c.544C>A (p.Pro182Thr)
n.273C>A
17g.44351631C=CA2261354250GRNc.1015C= (p.Pro339=)
c.456C=
c.544C= (p.Pro182=)
n.273C=
17g.44351631C>GCA8602085GRNc.1015C>G (p.Pro339Ala)
c.456C>G
c.544C>G (p.Pro182Ala)
n.273C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44351631C>TCA399765307GRNc.1015C>T (p.Pro339Ser)
c.456C>T
c.544C>T (p.Pro182Ser)
n.273C>T
17g.44351634delCA2739290982GRNc.1018del (p.His340ThrfsTer21)
c.459del
c.547del (p.His183ThrfsTer21)
n.276del
17g.44351632C>ACA399765314GRNc.1016C>A (p.Pro339His)
c.457C>A
c.545C>A (p.Pro182His)
n.274C>A
17g.44351632C>GCA399765310GRNc.1016C>G (p.Pro339Arg)
c.457C>G
c.545C>G (p.Pro182Arg)
n.274C>G
17g.44351632C>TCA399765312GRNc.1016C>T (p.Pro339Leu)
c.457C>T
c.545C>T (p.Pro182Leu)
n.274C>T
17g.44351633C>ACA500622003GRNc.1017C>A (p.Pro339=)
c.458C>A
c.546C>A (p.Pro182=)
n.275C>A
17g.44351633C>GCA500622004GRNc.1017C>G (p.Pro339=)
c.458C>G
c.546C>G (p.Pro182=)
n.275C>G
17g.44351633C>TCA500622005GRNc.1017C>T (p.Pro339=)
c.458C>T
c.546C>T (p.Pro182=)
n.275C>T
gnomAD v4
17g.44351634C>ACA399765316GRNc.1018C>A (p.His340Asn)
c.459C>A
c.547C>A (p.His183Asn)
n.276C>A
17g.44351634C>GCA399765317GRNc.1018C>G (p.His340Asp)
c.459C>G
c.547C>G (p.His183Asp)
n.276C>G
17g.44351634C>TCA399765319GRNc.1018C>T (p.His340Tyr)
c.459C>T
c.547C>T (p.His183Tyr)
n.276C>T
17g.44351635A=CA2261354251GRNc.1019A= (p.His340=)
c.460A=
c.548A= (p.His183=)
n.277A=
17g.44351635A>CCA399765322GRNc.1019A>C (p.His340Pro)
c.460A>C
c.548A>C (p.His183Pro)
n.277A>C
17g.44351635A>GCA399765323GRNc.1019A>G (p.His340Arg)
c.460A>G
c.548A>G (p.His183Arg)
n.277A>G
ClinVar dbSNP gnomAD v4
17g.44351635A>TCA8602086GRNc.1019A>T (p.His340Leu)
c.460A>T
c.548A>T (p.His183Leu)
n.277A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44351636C>ACA8602087GRNc.1020C>A (p.His340Gln)
c.461C>A
c.549C>A (p.His183Gln)
n.278C>A
dbSNP ExAC gnomAD v2 gnomAD v4
17g.44351636C=CA2261354252GRNc.1020C= (p.His340=)
c.461C=
c.549C= (p.His183=)
n.278C=
17g.44351636C>GCA399765326GRNc.1020C>G (p.His340Gln)
c.461C>G
c.549C>G (p.His183Gln)
n.278C>G
17g.44351636C>TCA500622008GRNc.1020C>T (p.His340=)
c.461C>T
c.549C>T (p.His183=)
n.278C>T
ClinVar dbSNP gnomAD v4
17g.44351637C>ACA399765330GRNc.1021C>A (p.Gln341Lys)
c.462C>A
c.550C>A (p.Gln184Lys)
n.279C>A
gnomAD v4
17g.44351637C=CA2261354253GRNc.1021C= (p.Gln341=)
c.462C=
c.550C= (p.Gln184=)
n.279C=
17g.44351637C>GCA399765331GRNc.1021C>G (p.Gln341Glu)
c.462C>G
c.550C>G (p.Gln184Glu)
n.279C>G
gnomAD v4
17g.44351637C>TCA399765333GRNc.1021C>T (p.Gln341Ter)
c.462C>T
c.550C>T (p.Gln184Ter)
n.279C>T
dbSNP
17g.44351638A>CCA399765341GRNc.1022A>C (p.Gln341Pro)
c.463A>C
c.551A>C (p.Gln184Pro)
n.280A>C
17g.44351638A>GCA399765339GRNc.1022A>G (p.Gln341Arg)
c.463A>G
c.551A>G (p.Gln184Arg)
n.280A>G
17g.44351638A>TCA399765336GRNc.1022A>T (p.Gln341Leu)
c.463A>T
c.551A>T (p.Gln184Leu)
n.280A>T
17g.44351639G>ACA500622012GRNc.1023G>A (p.Gln341=)
c.464G>A
c.552G>A (p.Gln184=)
n.281G>A
17g.44351639G>CCA399765343GRNc.1023G>C (p.Gln341His)
c.464G>C
c.552G>C (p.Gln184His)
n.281G>C
17g.44351639G>TCA399765345GRNc.1023G>T (p.Gln341His)
c.464G>T
c.552G>T (p.Gln184His)
n.281G>T
ClinVar
17g.44351640G>ACA399765349GRNc.1024G>A (p.Val342Met)
c.465G>A
c.553G>A (p.Val185Met)
n.282G>A
17g.44351640G>CCA399765351GRNc.1024G>C (p.Val342Leu)
c.465G>C
c.553G>C (p.Val185Leu)
n.282G>C
gnomAD v4
17g.44351640G>TCA399765353GRNc.1024G>T (p.Val342Leu)
c.465G>T
c.553G>T (p.Val185Leu)
n.282G>T
17g.44351641T>ACA399765356GRNc.1025T>A (p.Val342Glu)
c.466T>A
c.554T>A (p.Val185Glu)
n.283T>A
17g.44351641T>CCA8602088GRNc.1025T>C (p.Val342Ala)
c.466T>C
c.554T>C (p.Val185Ala)
n.283T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.44351641T>GCA399765359GRNc.1025T>G (p.Val342Gly)
c.466T>G
c.554T>G (p.Val185Gly)
n.283T>G
dbSNP
17g.44351641T=CA2261354254GRNc.1025T= (p.Val342=)
c.466T=
c.554T= (p.Val185=)
n.283T=
17g.44351642G>ACA500622018GRNc.1026G>A (p.Val342=)
c.467G>A
c.555G>A (p.Val185=)
n.284G>A
dbSNP gnomAD v4
17g.44351642G>CCA500622017GRNc.1026G>C (p.Val342=)
c.467G>C
c.555G>C (p.Val185=)
n.284G>C
17g.44351642G=CA2261354255GRNc.1026G= (p.Val342=)
c.467G=
c.555G= (p.Val185=)
n.284G=
17g.44351642G>TCA500622016GRNc.1026G>T (p.Val342=)
c.467G>T
c.555G>T (p.Val185=)
n.284G>T
dbSNP gnomAD v3 gnomAD v4
17g.44351643C>ACA399765362GRNc.1027C>A (p.Pro343Thr)
c.468C>A
c.556C>A (p.Pro186Thr)
n.285C>A
17g.44351643C=CA2261354256GRNc.1027C= (p.Pro343=)
c.468C=
c.556C= (p.Pro186=)
n.285C=
17g.44351643C>GCA399765363GRNc.1027C>G (p.Pro343Ala)
c.468C>G
c.556C>G (p.Pro186Ala)
n.285C>G
17g.44351643C>TCA399765364GRNc.1027C>T (p.Pro343Ser)
c.468C>T
c.556C>T (p.Pro186Ser)
n.285C>T
dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.44351644C>ACA399765368GRNc.1028C>A (p.Pro343His)
c.469C>A
c.557C>A (p.Pro186His)
n.286C>A
17g.44351644C>GCA399765369GRNc.1028C>G (p.Pro343Arg)
c.469C>G
c.557C>G (p.Pro186Arg)
n.286C>G
17g.44351644C>TCA399765371GRNc.1028C>T (p.Pro343Leu)
c.469C>T
c.557C>T (p.Pro186Leu)
n.286C>T
gnomAD v4
17g.44351645C>ACA500622022GRNc.1029C>A (p.Pro343=)
c.470C>A
c.558C>A (p.Pro186=)
n.287C>A
17g.44351645C>GCA500622023GRNc.1029C>G (p.Pro343=)
c.470C>G
c.558C>G (p.Pro186=)
n.287C>G
17g.44351645C>TCA500622024GRNc.1029C>T (p.Pro343=)
c.470C>T
c.558C>T (p.Pro186=)
n.287C>T
17g.44351646T>ACA399765378GRNc.1030T>A (p.Trp344Arg)
c.471T>A
c.559T>A (p.Trp187Arg)
n.288T>A
17g.44351646T>CCA399765376GRNc.1030T>C (p.Trp344Arg)
c.471T>C
c.559T>C (p.Trp187Arg)
n.288T>C
gnomAD v4
17g.44351646T>GCA399765374GRNc.1030T>G (p.Trp344Gly)
c.471T>G
c.559T>G (p.Trp187Gly)
n.288T>G
17g.44351647G>ACA399765380GRNc.1031G>A (p.Trp344Ter)
c.472G>A
c.560G>A (p.Trp187Ter)
n.289G>A
17g.44351647G>CCA399765382GRNc.1031G>C (p.Trp344Ser)
c.472G>C
c.560G>C (p.Trp187Ser)
n.289G>C
17g.44351647G>TCA399765384GRNc.1031G>T (p.Trp344Leu)
c.472G>T
c.560G>T (p.Trp187Leu)
n.289G>T
17g.44351648G>ACA399765387GRNc.1032G>A (p.Trp344Ter)
c.473G>A
c.561G>A (p.Trp187Ter)
n.290G>A
17g.44351648G>CCA399765389GRNc.1032G>C (p.Trp344Cys)
c.473G>C
c.561G>C (p.Trp187Cys)
n.290G>C
17g.44351648G>TCA399765390GRNc.1032G>T (p.Trp344Cys)
c.473G>T
c.561G>T (p.Trp187Cys)
n.290G>T
17g.44351649A=CA2261354257GRNc.1033A= (p.Met345=)
c.474A=
c.562A= (p.Met188=)
n.291A=
17g.44351649A>CCA399765392GRNc.1033A>C (p.Met345Leu)
c.474A>C
c.562A>C (p.Met188Leu)
n.291A>C
17g.44351649A>GCA8602089GRNc.1033A>G (p.Met345Val)
c.474A>G
c.562A>G (p.Met188Val)
n.291A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44351649A>TCA399765395GRNc.1033A>T (p.Met345Leu)
c.474A>T
c.562A>T (p.Met188Leu)
n.291A>T
17g.44351650T>ACA399765397GRNc.1034T>A (p.Met345Lys)
c.475T>A
c.563T>A (p.Met188Lys)
n.292T>A
17g.44351650T>CCA399765399GRNc.1034T>C (p.Met345Thr)
c.475T>C
c.563T>C (p.Met188Thr)
n.292T>C
gnomAD v4
17g.44351650T>GCA399765401GRNc.1034T>G (p.Met345Arg)
c.475T>G
c.563T>G (p.Met188Arg)
n.292T>G
17g.44351650_44351653delinsTGGACA2261354258GRNc.1034_1037delinsTGGA (p.Met345=)
c.475_478delinsTGGA
c.563_566delinsTGGA (p.Met188=)
n.292_295delinsTGGA
17g.44351651G>ACA8602091GRNc.1035G>A (p.Met345Ile)
c.476G>A
c.564G>A (p.Met188Ile)
n.293G>A
dbSNP ExAC gnomAD v2 gnomAD v4
17g.44351651G>CCA399765405GRNc.1035G>C (p.Met345Ile)
c.476G>C
c.564G>C (p.Met188Ile)
n.293G>C
17g.44351651G=CA2261354259GRNc.1035G= (p.Met345=)
c.476G=
c.564G= (p.Met188=)
n.293G=
17g.44351651G>TCA399765408GRNc.1035G>T (p.Met345Ile)
c.476G>T
c.564G>T (p.Met188Ile)
n.293G>T
17g.44351652_44351654delCA8602090GRNc.1036_1038del (p.Glu346del)
c.477_479del
c.565_567del (p.Glu189del)
n.294_296del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44351652G>ACA399765409GRNc.1036G>A (p.Glu346Lys)
c.477G>A
c.565G>A (p.Glu189Lys)
n.294G>A
17g.44351652G>CCA399765411GRNc.1036G>C (p.Glu346Gln)
c.477G>C
c.565G>C (p.Glu189Gln)
n.294G>C
17g.44351652G>TCA399765413GRNc.1036G>T (p.Glu346Ter)
c.477G>T
c.565G>T (p.Glu189Ter)
n.294G>T
17g.44351653A>CCA399765418GRNc.1037A>C (p.Glu346Ala)
c.478A>C
c.566A>C (p.Glu189Ala)
n.295A>C
17g.44351653A>GCA399765420GRNc.1037A>G (p.Glu346Gly)
c.478A>G
c.566A>G (p.Glu189Gly)
n.295A>G
gnomAD v4
17g.44351653A>TCA399765422GRNc.1037A>T (p.Glu346Val)
c.478A>T
c.566A>T (p.Glu189Val)
n.295A>T
17g.44351654G>ACA500622033GRNc.1038G>A (p.Glu346=)
c.479G>A
c.567G>A (p.Glu189=)
n.296G>A
17g.44351654G>CCA399765426GRNc.1038G>C (p.Glu346Asp)
c.479G>C
c.567G>C (p.Glu189Asp)
n.296G>C
17g.44351654G>TCA399765429GRNc.1038G>T (p.Glu346Asp)
c.479G>T
c.567G>T (p.Glu189Asp)
n.296G>T
17g.44351655A>CCA399765433GRNc.1039A>C (p.Lys347Gln)
c.480A>C
c.568A>C (p.Lys190Gln)
n.297A>C
17g.44351655A>GCA399765435GRNc.1039A>G (p.Lys347Glu)
c.480A>G
c.568A>G (p.Lys190Glu)
n.297A>G
dbSNP gnomAD v4 COSMIC
17g.44351655A>TCA399765439GRNc.1039A>T (p.Lys347Ter)
c.480A>T
c.568A>T (p.Lys190Ter)
n.297A>T
17g.44351656dupCA2638209691GRNc.1040dup (p.Ala348GlyfsTer20)
c.481dup
c.569dup (p.Ala191GlyfsTer20)
n.298dup
gnomAD v4
17g.44351656A=CA2261354260GRNc.1040A= (p.Lys347=)
c.481A=
c.569A= (p.Lys190=)
n.298A=
17g.44351656A>CCA399765449GRNc.1040A>C (p.Lys347Thr)
c.481A>C
c.569A>C (p.Lys190Thr)
n.298A>C
17g.44351656A>GCA399765446GRNc.1040A>G (p.Lys347Arg)
c.481A>G
c.569A>G (p.Lys190Arg)
n.298A>G
dbSNP gnomAD v4
17g.44351656A>TCA399765444GRNc.1040A>T (p.Lys347Met)
c.481A>T
c.569A>T (p.Lys190Met)
n.298A>T
17g.44351657G>ACA8602092GRNc.1041G>A (p.Lys347=)
c.482G>A
c.570G>A (p.Lys190=)
n.299G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44351657G>CCA399765455GRNc.1041G>C (p.Lys347Asn)
c.482G>C
c.570G>C (p.Lys190Asn)
n.299G>C
17g.44351657G=CA2261354261GRNc.1041G= (p.Lys347=)
c.482G=
c.570G= (p.Lys190=)
n.299G=
17g.44351657G>TCA399765457GRNc.1041G>T (p.Lys347Asn)
c.482G>T
c.570G>T (p.Lys190Asn)
n.299G>T
17g.44351658G>ACA399765462GRNc.1042G>A (p.Ala348Thr)
c.483G>A
c.571G>A (p.Ala191Thr)
n.300G>A
17g.44351658G>CCA399765465GRNc.1042G>C (p.Ala348Pro)
c.483G>C
c.571G>C (p.Ala191Pro)
n.300G>C
17g.44351658G>TCA399765466GRNc.1042G>T (p.Ala348Ser)
c.483G>T
c.571G>T (p.Ala191Ser)
n.300G>T
17g.44351659C>ACA399765471GRNc.1043C>A (p.Ala348Asp)
c.484C>A
c.572C>A (p.Ala191Asp)
n.301C>A
17g.44351659C>GCA399765474GRNc.1043C>G (p.Ala348Gly)
c.484C>G
c.572C>G (p.Ala191Gly)
n.301C>G
17g.44351659C>TCA399765476GRNc.1043C>T (p.Ala348Val)
c.484C>T
c.572C>T (p.Ala191Val)
n.301C>T
gnomAD v4
17g.44351660C>ACA500622036GRNc.1044C>A (p.Ala348=)
c.485C>A
c.573C>A (p.Ala191=)
n.302C>A
17g.44351660C>GCA500622037GRNc.1044C>G (p.Ala348=)
c.485C>G
c.573C>G (p.Ala191=)
n.302C>G
17g.44351660C>TCA500622038GRNc.1044C>T (p.Ala348=)
c.485C>T
c.573C>T (p.Ala191=)
n.302C>T
17g.44351661C>ACA399765480GRNc.1045C>A (p.Pro349Thr)
c.486C>A
c.574C>A (p.Pro192Thr)
n.303C>A
17g.44351661C>GCA399765483GRNc.1045C>G (p.Pro349Ala)
c.486C>G
c.574C>G (p.Pro192Ala)
n.303C>G
17g.44351661C>TCA399765485GRNc.1045C>T (p.Pro349Ser)
c.486C>T
c.574C>T (p.Pro192Ser)
n.303C>T
17g.44351662C>ACA399765496GRNc.1046C>A (p.Pro349Gln)
c.487C>A
c.575C>A (p.Pro192Gln)
n.304C>A
17g.44351662C>GCA399765494GRNc.1046C>G (p.Pro349Arg)
c.487C>G
c.575C>G (p.Pro192Arg)
n.304C>G
17g.44351662C>TCA399765490GRNc.1046C>T (p.Pro349Leu)
c.487C>T
c.575C>T (p.Pro192Leu)
n.304C>T
17g.44351663A=CA2261354262GRNc.1047A= (p.Pro349=)
c.488A=
c.576A= (p.Pro192=)
n.305A=
17g.44351663A>CCA500622042GRNc.1047A>C (p.Pro349=)
c.488A>C
c.576A>C (p.Pro192=)
n.305A>C
17g.44351663A>GCA8602093GRNc.1047A>G (p.Pro349=)
c.488A>G
c.576A>G (p.Pro192=)
n.305A>G
dbSNP ExAC gnomAD v2 gnomAD v4
17g.44351663A>TCA500622044GRNc.1047A>T (p.Pro349=)
c.488A>T
c.576A>T (p.Pro192=)
n.305A>T
17g.44351664G>ACA399765507GRNc.1048G>A (p.Ala350Thr)
c.489G>A
c.577G>A (p.Ala193Thr)
n.306G>A
17g.44351664G>CCA399765505GRNc.1048G>C (p.Ala350Pro)
c.489G>C
c.577G>C (p.Ala193Pro)
n.306G>C
17g.44351664G>TCA399765509GRNc.1048G>T (p.Ala350Ser)
c.489G>T
c.577G>T (p.Ala193Ser)
n.306G>T
17g.44351664dupCA2638209702GRNc.1048dup (p.Ala350GlyfsTer18)
c.489dup
c.577dup (p.Ala193GlyfsTer18)
n.306dup
gnomAD v4
17g.44351665C>ACA399765513GRNc.1049C>A (p.Ala350Asp)
c.490C>A
c.578C>A (p.Ala193Asp)
n.307C>A
17g.44351665C=CA2261354263GRNc.1049C= (p.Ala350=)
c.490C=
c.578C= (p.Ala193=)
n.307C=
17g.44351665C>GCA399765521GRNc.1049C>G (p.Ala350Gly)
c.490C>G
c.578C>G (p.Ala193Gly)
n.307C>G
17g.44351665C>TCA399765516GRNc.1049C>T (p.Ala350Val)
c.490C>T
c.578C>T (p.Ala193Val)
n.307C>T
dbSNP gnomAD v3 gnomAD v4
17g.44351666T>ACA500622046GRNc.1050T>A (p.Ala350=)
c.491T>A
c.579T>A (p.Ala193=)
n.308T>A
17g.44351666T>CCA500622047GRNc.1050T>C (p.Ala350=)
c.491T>C
c.579T>C (p.Ala193=)
n.308T>C
17g.44351666T>GCA500622048GRNc.1050T>G (p.Ala350=)
c.491T>G
c.579T>G (p.Ala193=)
n.308T>G
17g.44351667C>ACA399765525GRNc.1051C>A (p.His351Asn)
c.492C>A
c.580C>A (p.His194Asn)
n.309C>A
17g.44351667C>GCA399765528GRNc.1051C>G (p.His351Asp)
c.492C>G
c.580C>G (p.His194Asp)
n.309C>G
17g.44351667C>TCA399765526GRNc.1051C>T (p.His351Tyr)
c.492C>T
c.580C>T (p.His194Tyr)
n.309C>T
17g.44351668A=CA2261354264GRNc.1052A= (p.His351=)
c.493A=
c.581A= (p.His194=)
n.310A=
17g.44351668A>CCA399765531GRNc.1052A>C (p.His351Pro)
c.493A>C
c.581A>C (p.His194Pro)
n.310A>C
dbSNP
17g.44351668A>GCA399765534GRNc.1052A>G (p.His351Arg)
c.493A>G
c.581A>G (p.His194Arg)
n.310A>G
17g.44351668A>TCA399765536GRNc.1052A>T (p.His351Leu)
c.493A>T
c.581A>T (p.His194Leu)
n.310A>T
17g.44351669C>ACA399765539GRNc.1053C>A (p.His351Gln)
c.494C>A
c.582C>A (p.His194Gln)
n.311C>A
17g.44351669C>GCA399765541GRNc.1053C>G (p.His351Gln)
c.494C>G
c.582C>G (p.His194Gln)
n.311C>G
17g.44351669C>TCA500622051GRNc.1053C>T (p.His351=)
c.494C>T
c.582C>T (p.His194=)
n.311C>T
gnomAD v4
17g.44351670_44351676dupCA2832528778GRNc.1054_1060dup (p.Leu354ProfsTer16)
c.495_501dup
c.583_589dup (p.Leu197ProfsTer16)
n.312_318dup
17g.44351670C>ACA399765546GRNc.1054C>A (p.Leu352Ile)
c.495C>A
c.583C>A (p.Leu195Ile)
n.312C>A
17g.44351670C>GCA399765548GRNc.1054C>G (p.Leu352Val)
c.495C>G
c.583C>G (p.Leu195Val)
n.312C>G
17g.44351670C>TCA399765552GRNc.1054C>T (p.Leu352Phe)
c.495C>T
c.583C>T (p.Leu195Phe)
n.312C>T
gnomAD v4
17g.44351671T>ACA399765562GRNc.1055T>A (p.Leu352His)
c.496T>A
c.584T>A (p.Leu195His)
n.313T>A
17g.44351671T>CCA399765565GRNc.1055T>C (p.Leu352Pro)
c.496T>C
c.584T>C (p.Leu195Pro)
n.313T>C
17g.44351671T>GCA399765569GRNc.1055T>G (p.Leu352Arg)
c.496T>G
c.584T>G (p.Leu195Arg)
n.313T>G
17g.44351672C>ACA500622052GRNc.1056C>A (p.Leu352=)
c.497C>A
c.585C>A (p.Leu195=)
n.314C>A
dbSNP gnomAD v3 gnomAD v4
17g.44351672C=CA2261354265GRNc.1056C= (p.Leu352=)
c.497C=
c.585C= (p.Leu195=)
n.314C=
17g.44351672C>GCA500622053GRNc.1056C>G (p.Leu352=)
c.497C>G
c.585C>G (p.Leu195=)
n.314C>G
17g.44351672C>TCA500622054GRNc.1056C>T (p.Leu352=)
c.497C>T
c.585C>T (p.Leu195=)
n.314C>T
17g.44351672dupCA2638209707GRNc.1056dup (p.Ser353GlnfsTer15)
c.497dup
c.585dup (p.Ser196GlnfsTer15)
n.314dup
gnomAD v4
17g.44351673A>CCA399765581GRNc.1057A>C (p.Ser353Arg)
c.498A>C
c.586A>C (p.Ser196Arg)
n.315A>C
17g.44351673A>GCA399765577GRNc.1057A>G (p.Ser353Gly)
c.498A>G
c.586A>G (p.Ser196Gly)
n.315A>G
17g.44351673A>TCA399765572GRNc.1057A>T (p.Ser353Cys)
c.498A>T
c.586A>T (p.Ser196Cys)
n.315A>T
17g.44351674G>ACA399765587GRNc.1058G>A (p.Ser353Asn)
c.499G>A
c.587G>A (p.Ser196Asn)
n.316G>A
dbSNP gnomAD v3 gnomAD v4
17g.44351674G>CCA399765590GRNc.1058G>C (p.Ser353Thr)
c.499G>C
c.587G>C (p.Ser196Thr)
n.316G>C
17g.44351674G=CA2261354266GRNc.1058G= (p.Ser353=)
c.499G=
c.587G= (p.Ser196=)
n.316G=
17g.44351674G>TCA399765594GRNc.1058G>T (p.Ser353Ile)
c.499G>T
c.587G>T (p.Ser196Ile)
n.316G>T
17g.44351675C>ACA399765596GRNc.1059C>A (p.Ser353Arg)
c.500C>A
c.588C>A (p.Ser196Arg)
n.317C>A
gnomAD v4
17g.44351675C=CA2261354267GRNc.1059C= (p.Ser353=)
c.500C=
c.588C= (p.Ser196=)
n.317C=
17g.44351675C>GCA399765600GRNc.1059C>G (p.Ser353Arg)
c.500C>G
c.588C>G (p.Ser196Arg)
n.317C>G
ClinVar dbSNP
17g.44351675C>TCA500622055GRNc.1059C>T (p.Ser353=)
c.500C>T
c.588C>T (p.Ser196=)
n.317C>T
dbSNP gnomAD v2
17g.44351676C>ACA399765606GRNc.1060C>A (p.Leu354Met)
c.501C>A
c.589C>A (p.Leu197Met)
n.318C>A
17g.44351676C=CA2261354268GRNc.1060C= (p.Leu354=)
c.501C=
c.589C= (p.Leu197=)
n.318C=
17g.44351676C>GCA399765610GRNc.1060C>G (p.Leu354Val)
c.501C>G
c.589C>G (p.Leu197Val)
n.318C>G
COSMIC
17g.44351676C>TCA8602094GRNc.1060C>T (p.Leu354=)
c.501C>T
c.589C>T (p.Leu197=)
n.318C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.44351677T>ACA399765619GRNc.1061T>A (p.Leu354Gln)
c.502T>A
c.590T>A (p.Leu197Gln)
n.319T>A
gnomAD v4
17g.44351677T>CCA399765623GRNc.1061T>C (p.Leu354Pro)
c.502T>C
c.590T>C (p.Leu197Pro)
n.319T>C
17g.44351677T>GCA399765627GRNc.1061T>G (p.Leu354Arg)
c.502T>G
c.590T>G (p.Leu197Arg)
n.319T>G
17g.44351678G>ACA500622058GRNc.1062G>A (p.Leu354=)
c.503G>A
c.591G>A (p.Leu197=)
n.320G>A
17g.44351678G>CCA500622060GRNc.1062G>C (p.Leu354=)
c.503G>C
c.591G>C (p.Leu197=)
n.320G>C
17g.44351678G>TCA500622061GRNc.1062G>T (p.Leu354=)
c.503G>T
c.591G>T (p.Leu197=)
n.320G>T
17g.44351679C>ACA399765636GRNc.1063C>A (p.Pro355Thr)
c.504C>A
c.592C>A (p.Pro198Thr)
n.321C>A
17g.44351679C=CA2261354269GRNc.1063C= (p.Pro355=)
c.504C=
c.592C= (p.Pro198=)
n.321C=
17g.44351679C>GCA399765634GRNc.1063C>G (p.Pro355Ala)
c.504C>G
c.592C>G (p.Pro198Ala)
n.321C>G
17g.44351679C>TCA399765631GRNc.1063C>T (p.Pro355Ser)
c.504C>T
c.592C>T (p.Pro198Ser)
n.321C>T
dbSNP
17g.44351679_44351680delCA2809588843GRNc.1063_1064del (p.Pro355ArgfsTer12)
c.504_505del
c.592_593del (p.Pro198ArgfsTer12)
n.321_322del
17g.44351680C>ACA399765642GRNc.1064C>A (p.Pro355Gln)
c.505C>A
c.593C>A (p.Pro198Gln)
n.322C>A
17g.44351680C>GCA399765646GRNc.1064C>G (p.Pro355Arg)
c.505C>G
c.593C>G (p.Pro198Arg)
n.322C>G
17g.44351680C>TCA399765647GRNc.1064C>T (p.Pro355Leu)
c.505C>T
c.593C>T (p.Pro198Leu)
n.322C>T
17g.44351681A>CCA500622062GRNc.1065A>C (p.Pro355=)
c.506A>C
c.594A>C (p.Pro198=)
n.323A>C
17g.44351681A>GCA500622063GRNc.1065A>G (p.Pro355=)
c.506A>G
c.594A>G (p.Pro198=)
n.323A>G
17g.44351681A>TCA500622064GRNc.1065A>T (p.Pro355=)
c.506A>T
c.594A>T (p.Pro198=)
n.323A>T
17g.44351682G>ACA399765654GRNc.1066G>A (p.Asp356Asn)
c.507G>A
c.595G>A (p.Asp199Asn)
n.324G>A
17g.44351682G>CCA399765657GRNc.1066G>C (p.Asp356His)
c.507G>C
c.595G>C (p.Asp199His)
n.324G>C
17g.44351682G>TCA399765660GRNc.1066G>T (p.Asp356Tyr)
c.507G>T
c.595G>T (p.Asp199Tyr)
n.324G>T
17g.44351683A=CA2261354270GRNc.1067A= (p.Asp356=)
c.508A=
c.596A= (p.Asp199=)
n.325A=
17g.44351683A>CCA399765667GRNc.1067A>C (p.Asp356Ala)
c.508A>C
c.596A>C (p.Asp199Ala)
n.325A>C
17g.44351683A>GCA399765670GRNc.1067A>G (p.Asp356Gly)
c.508A>G
c.596A>G (p.Asp199Gly)
n.325A>G
dbSNP
17g.44351683A>TCA399765672GRNc.1067A>T (p.Asp356Val)
c.508A>T
c.596A>T (p.Asp199Val)
n.325A>T
17g.44351684C>ACA399765678GRNc.1068C>A (p.Asp356Glu)
c.509C>A
c.597C>A (p.Asp199Glu)
n.326C>A
17g.44351684C=CA2261354271GRNc.1068C= (p.Asp356=)
c.509C=
c.597C= (p.Asp199=)
n.326C=
17g.44351684C>GCA399765682GRNc.1068C>G (p.Asp356Glu)
c.509C>G
c.597C>G (p.Asp199Glu)
n.326C>G
17g.44351684C>TCA500622068GRNc.1068C>T (p.Asp356=)
c.509C>T
c.597C>T (p.Asp199=)
n.326C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44351686delCA2638209726GRNc.1070del (p.Pro357HisfsTer4)
c.511del
c.599del (p.Pro200HisfsTer4)
n.328del
gnomAD v4
17g.44351685C>ACA399765692GRNc.1069C>A (p.Pro357Thr)
c.510C>A
c.598C>A (p.Pro200Thr)
n.327C>A
17g.44351685C=CA2261354272GRNc.1069C= (p.Pro357=)
c.510C=
c.598C= (p.Pro200=)
n.327C=
17g.44351685C>GCA399765691GRNc.1069C>G (p.Pro357Ala)
c.510C>G
c.598C>G (p.Pro200Ala)
n.327C>G
17g.44351685C>TCA399765687GRNc.1069C>T (p.Pro357Ser)
c.510C>T
c.598C>T (p.Pro200Ser)
n.327C>T
dbSNP gnomAD v3 gnomAD v4
17g.44351686C>ACA399765693GRNc.1070C>A (p.Pro357Gln)
c.511C>A
c.599C>A (p.Pro200Gln)
n.328C>A
17g.44351686C=CA2261354273GRNc.1070C= (p.Pro357=)
c.511C=
c.599C= (p.Pro200=)
n.328C=
17g.44351686C>GCA399765694GRNc.1070C>G (p.Pro357Arg)
c.511C>G
c.599C>G (p.Pro200Arg)
n.328C>G
17g.44351686C>TCA399765695GRNc.1070C>T (p.Pro357Leu)
c.511C>T
c.599C>T (p.Pro200Leu)
n.328C>T
dbSNP gnomAD v4
17g.44351687A=CA2261354274GRNc.1071A= (p.Pro357=)
c.512A=
c.600A= (p.Pro200=)
n.329A=
17g.44351687A>CCA8602095GRNc.1071A>C (p.Pro357=)
c.512A>C
c.600A>C (p.Pro200=)
n.329A>C
dbSNP ExAC gnomAD v2 gnomAD v4
17g.44351687A>GCA500622069GRNc.1071A>G (p.Pro357=)
c.512A>G
c.600A>G (p.Pro200=)
n.329A>G
17g.44351687A>TCA500622070GRNc.1071A>T (p.Pro357=)
c.512A>T
c.600A>T (p.Pro200=)
n.329A>T
ClinVar dbSNP gnomAD v4
17g.44351688C>ACA399765699GRNc.1072C>A (p.Gln358Lys)
c.513C>A
c.601C>A (p.Gln201Lys)
n.330C>A
17g.44351688C=CA2261354275GRNc.1072C= (p.Gln358=)
c.513C=
c.601C= (p.Gln201=)
n.330C=
17g.44351688C>GCA399765700GRNc.1072C>G (p.Gln358Glu)
c.513C>G
c.601C>G (p.Gln201Glu)
n.330C>G
gnomAD v4
17g.44351688C>TCA399765702GRNc.1072C>T (p.Gln358Ter)
c.513C>T
c.601C>T (p.Gln201Ter)
n.330C>T
ClinVar dbSNP gnomAD v4
17g.44351689A=CA2261354276GRNc.1073A= (p.Gln358=)
c.514A=
c.602A= (p.Gln201=)
n.331A=
17g.44351689A>CCA399765705GRNc.1073A>C (p.Gln358Pro)
c.514A>C
c.602A>C (p.Gln201Pro)
n.331A>C
17g.44351689A>GCA399765707GRNc.1073A>G (p.Gln358Arg)
c.514A>G
c.602A>G (p.Gln201Arg)
n.331A>G
dbSNP gnomAD v4
17g.44351689A>TCA399765710GRNc.1073A>T (p.Gln358Leu)
c.514A>T
c.602A>T (p.Gln201Leu)
n.331A>T
17g.44351689_44351690dupCA891843550GRNc.1073_1074dup (p.Ala359LysfsTer3)
c.514_515dup
c.602_603dup (p.Ala202LysfsTer3)
n.331_332dup
ClinVar dbSNP
17g.44351690A>CCA399765714GRNc.1074A>C (p.Gln358His)
c.515A>C
c.603A>C (p.Gln201His)
n.332A>C
17g.44351690A>GCA500622071GRNc.1074A>G (p.Gln358=)
c.515A>G
c.603A>G (p.Gln201=)
n.332A>G
17g.44351690A>TCA399765717GRNc.1074A>T (p.Gln358His)
c.515A>T
c.603A>T (p.Gln201His)
n.332A>T
17g.44351691G>ACA399765729GRNc.1075G>A (p.Ala359Thr)
c.516G>A
c.604G>A (p.Ala202Thr)
n.333G>A
gnomAD v4
17g.44351691G>CCA399765726GRNc.1075G>C (p.Ala359Pro)
c.516G>C
c.604G>C (p.Ala202Pro)
n.333G>C
17g.44351691G>TCA399765722GRNc.1075G>T (p.Ala359Ser)
c.516G>T
c.604G>T (p.Ala202Ser)
n.333G>T
17g.44351692C>ACA399765734GRNc.1076C>A (p.Ala359Asp)
c.517C>A
c.605C>A (p.Ala202Asp)
n.334C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44351692C=CA2261354277GRNc.1076C= (p.Ala359=)
c.517C=
c.605C= (p.Ala202=)
n.334C=
17g.44351692C>GCA399765739GRNc.1076C>G (p.Ala359Gly)
c.517C>G
c.605C>G (p.Ala202Gly)
n.334C>G
dbSNP gnomAD v3 gnomAD v4
17g.44351692C>TCA8602096GRNc.1076C>T (p.Ala359Val)
c.517C>T
c.605C>T (p.Ala202Val)
n.334C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44351693C>ACA500622073GRNc.1077C>A (p.Ala359=)
c.518C>A
c.606C>A (p.Ala202=)
n.335C>A
17g.44351693C>GCA500622075GRNc.1077C>G (p.Ala359=)
c.518C>G
c.606C>G (p.Ala202=)
n.335C>G
17g.44351693C>TCA500622076GRNc.1077C>T (p.Ala359=)
c.518C>T
c.606C>T (p.Ala202=)
n.335C>T
17g.44351694T>ACA399765743GRNc.1078T>A (p.Leu360Met)
c.519T>A
c.607T>A (p.Leu203Met)
n.336T>A
17g.44351694T>CCA8602097GRNc.1078T>C (p.Leu360=)
c.519T>C
c.607T>C (p.Leu203=)
n.336T>C
dbSNP ExAC gnomAD v2 gnomAD v4
17g.44351694T>GCA399765749GRNc.1078T>G (p.Leu360Val)
c.519T>G
c.607T>G (p.Leu203Val)
n.336T>G
gnomAD v4
17g.44351694T=CA2261354278GRNc.1078T= (p.Leu360=)
c.519T=
c.607T= (p.Leu203=)
n.336T=
17g.44351695T>ACA399765753GRNc.1079T>A (p.Leu360Ter)
c.520T>A
c.608T>A (p.Leu203Ter)
n.337T>A
17g.44351695T>CCA399765756GRNc.1079T>C (p.Leu360Ser)
c.520T>C
c.608T>C (p.Leu203Ser)
n.337T>C
17g.44351695T>GCA399765759GRNc.1079T>G (p.Leu360Trp)
c.520T>G
c.608T>G (p.Leu203Trp)
n.337T>G
17g.44351696G>ACA500622077GRNc.1080G>A (p.Leu360=)
c.521G>A
c.609G>A (p.Leu203=)
n.338G>A
dbSNP gnomAD v2 gnomAD v4
17g.44351696G>CCA399765765GRNc.1080G>C (p.Leu360Phe)
c.521G>C
c.609G>C (p.Leu203Phe)
n.338G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.44351696G=CA2261354279GRNc.1080G= (p.Leu360=)
c.521G=
c.609G= (p.Leu203=)
n.338G=
17g.44351696G>TCA399765770GRNc.1080G>T (p.Leu360Phe)
c.521G>T
c.609G>T (p.Leu203Phe)
n.338G>T
17g.44351697A=CA2261354281GRNc.1081A= (p.Lys361=)
c.522A=
c.610A= (p.Lys204=)
n.339A=
17g.44351697A>CCA399765773GRNc.1081A>C (p.Lys361Gln)
c.522A>C
c.610A>C (p.Lys204Gln)
n.339A>C
17g.44351697A>GCA399765775GRNc.1081A>G (p.Lys361Glu)
c.522A>G
c.610A>G (p.Lys204Glu)
n.339A>G
dbSNP
17g.44351697A>TCA399765778GRNc.1081A>T (p.Lys361Ter)
c.522A>T
c.610A>T (p.Lys204Ter)
n.339A>T
17g.44351697_44351699delinsAAGCA2261354280GRNc.1081_1083delinsAAG (p.Lys361=)
c.522_524delinsAAG
c.610_612delinsAAG (p.Lys204=)
n.339_341delinsAAG
17g.44351698A>CCA399765791GRNc.1082A>C (p.Lys361Thr)
c.523A>C
c.611A>C (p.Lys204Thr)
n.340A>C
17g.44351698A>GCA399765786GRNc.1082A>G (p.Lys361Arg)
c.523A>G
c.611A>G (p.Lys204Arg)
n.340A>G
gnomAD v4
17g.44351698A>TCA399765784GRNc.1082A>T (p.Lys361Met)
c.523A>T
c.611A>T (p.Lys204Met)
n.340A>T
17g.44351703_44351704delCA913191166GRNc.1087_1088del (p.Asp363CysfsTer4)
c.528_529del
c.616_617del (p.Asp206CysfsTer4)
n.345_346del
ClinVar dbSNP gnomAD v4
17g.44351699G>ACA500622078GRNc.1083G>A (p.Lys361=)
c.524G>A
c.612G>A (p.Lys204=)
n.341G>A
17g.44351699G>CCA399765796GRNc.1083G>C (p.Lys361Asn)
c.524G>C
c.612G>C (p.Lys204Asn)
n.341G>C
gnomAD v4
17g.44351699G=CA2261354282GRNc.1083G= (p.Lys361=)
c.524G=
c.612G= (p.Lys204=)
n.341G=
17g.44351699G>TCA399765800GRNc.1083G>T (p.Lys361Asn)
c.524G>T
c.612G>T (p.Lys204Asn)
n.341G>T
dbSNP
17g.44351700A>CCA500622079GRNc.1084A>C (p.Arg362=)
c.525A>C
c.613A>C (p.Arg205=)
n.342A>C
17g.44351700A>GCA399765806GRNc.1084A>G (p.Arg362Gly)
c.525A>G
c.613A>G (p.Arg205Gly)
n.342A>G
17g.44351700A>TCA399765808GRNc.1084A>T (p.Arg362Ter)
c.525A>T
c.613A>T (p.Arg205Ter)
n.342A>T
17g.44351701G>ACA399765813GRNc.1085G>A (p.Arg362Lys)
c.526G>A
c.614G>A (p.Arg205Lys)
n.343G>A
17g.44351701G>CCA399765817GRNc.1085G>C (p.Arg362Thr)
c.526G>C
c.614G>C (p.Arg205Thr)
n.343G>C
17g.44351701G>TCA399765820GRNc.1085G>T (p.Arg362Ile)
c.526G>T
c.614G>T (p.Arg205Ile)
n.343G>T
17g.44351702A=CA2261354283GRNc.1086A= (p.Arg362=)
c.527A=
c.615A= (p.Arg205=)
n.344A=
17g.44351702A>CCA399765824GRNc.1086A>C (p.Arg362Ser)
c.527A>C
c.615A>C (p.Arg205Ser)
n.344A>C
dbSNP
17g.44351702A>GCA500622080GRNc.1086A>G (p.Arg362=)
c.527A>G
c.615A>G (p.Arg205=)
n.344A>G
gnomAD v4
17g.44351702A>TCA399765828GRNc.1086A>T (p.Arg362Ser)
c.527A>T
c.615A>T (p.Arg205Ser)
n.344A>T
17g.44351704_44351728delCA2576290524GRNc.1088_1112del (p.Asp363AlafsTer?)
c.529_553del
c.617_641del (p.Asp206AlafsTer?)
n.346_370del
17g.44351703G>ACA399765835GRNc.1087G>A (p.Asp363Asn)
c.528G>A
c.616G>A (p.Asp206Asn)
n.345G>A
17g.44351703G>CCA399765839GRNc.1087G>C (p.Asp363His)
c.528G>C
c.616G>C (p.Asp206His)
n.345G>C
17g.44351703G>TCA399765843GRNc.1087G>T (p.Asp363Tyr)
c.528G>T
c.616G>T (p.Asp206Tyr)
n.345G>T
17g.44351704A>CCA399765855GRNc.1088A>C (p.Asp363Ala)
c.529A>C
c.617A>C (p.Asp206Ala)
n.346A>C
17g.44351704A>GCA399765851GRNc.1088A>G (p.Asp363Gly)
c.529A>G
c.617A>G (p.Asp206Gly)
n.346A>G
gnomAD v4
17g.44351704A>TCA399765847GRNc.1088A>T (p.Asp363Val)
c.529A>T
c.617A>T (p.Asp206Val)
n.346A>T
17g.44351705T>ACA399765858GRNc.1089T>A (p.Asp363Glu)
c.530T>A
c.618T>A (p.Asp206Glu)
n.347T>A
17g.44351705T>CCA500622082GRNc.1089T>C (p.Asp363=)
c.530T>C
c.618T>C (p.Asp206=)
n.347T>C
dbSNP gnomAD v4
17g.44351705T>GCA399765871GRNc.1089T>G (p.Asp363Glu)
c.530T>G
c.618T>G (p.Asp206Glu)
n.347T>G
17g.44351705T=CA2261354284GRNc.1089T= (p.Asp363=)
c.530T=
c.618T= (p.Asp206=)
n.347T=
17g.44351706G>ACA399765874GRNc.1090G>A (p.Val364Ile)
c.531G>A
c.619G>A (p.Val207Ile)
n.348G>A
17g.44351706G>CCA399765876GRNc.1090G>C (p.Val364Leu)
c.531G>C
c.619G>C (p.Val207Leu)
n.348G>C
17g.44351706G>TCA399765881GRNc.1090G>T (p.Val364Phe)
c.531G>T
c.619G>T (p.Val207Phe)
n.348G>T
17g.44351707T>ACA399765885GRNc.1091T>A (p.Val364Asp)
c.532T>A
c.620T>A (p.Val207Asp)
n.349T>A
17g.44351707T>CCA399765888GRNc.1091T>C (p.Val364Ala)
c.532T>C
c.620T>C (p.Val207Ala)
n.349T>C
17g.44351707T>GCA399765892GRNc.1091T>G (p.Val364Gly)
c.532T>G
c.620T>G (p.Val207Gly)
n.349T>G
17g.44351708C>ACA500622085GRNc.1092C>A (p.Val364=)
c.533C>A
c.621C>A (p.Val207=)
n.350C>A
17g.44351708C=CA2261354285GRNc.1092C= (p.Val364=)
c.533C=
c.621C= (p.Val207=)
n.350C=
17g.44351708C>GCA500622087GRNc.1092C>G (p.Val364=)
c.533C>G
c.621C>G (p.Val207=)
n.350C>G
17g.44351708C>TCA8602098GRNc.1092C>T (p.Val364=)
c.533C>T
c.621C>T (p.Val207=)
n.350C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44351709C>ACA399765901GRNc.1093C>A (p.Pro365Thr)
c.534C>A
c.622C>A (p.Pro208Thr)
n.351C>A
17g.44351709C>GCA399765908GRNc.1093C>G (p.Pro365Ala)
c.534C>G
c.622C>G (p.Pro208Ala)
n.351C>G
17g.44351709C>TCA399765910GRNc.1093C>T (p.Pro365Ser)
c.534C>T
c.622C>T (p.Pro208Ser)
n.351C>T
17g.44351710C>ACA399765917GRNc.1094C>A (p.Pro365His)
c.535C>A
c.623C>A (p.Pro208His)
n.352C>A
17g.44351710C>GCA399765914GRNc.1094C>G (p.Pro365Arg)
c.535C>G
c.623C>G (p.Pro208Arg)
n.352C>G
17g.44351710C>TCA399765912GRNc.1094C>T (p.Pro365Leu)
c.535C>T
c.623C>T (p.Pro208Leu)
n.352C>T
17g.44351710_44351712delinsCCTCA2261354286GRNc.1094_1096delinsCCT (p.Pro365=)
c.535_537delinsCCT
c.623_625delinsCCT (p.Pro208=)
n.352_354delinsCCT
17g.44351711C>ACA500622088GRNc.1095C>A (p.Pro365=)
c.536C>A
c.624C>A (p.Pro208=)
n.353C>A
17g.44351711C>GCA500622089GRNc.1095C>G (p.Pro365=)
c.536C>G
c.624C>G (p.Pro208=)
n.353C>G
17g.44351711C>TCA500622090GRNc.1095C>T (p.Pro365=)
c.536C>T
c.624C>T (p.Pro208=)
n.353C>T
gnomAD v4
17g.44351711_44351712delCA225523GRNc.1095_1096del (p.Cys366Ter)
c.536_537del
c.624_625del (p.Cys209Ter)
n.353_354del
ClinVar dbSNP gnomAD v4
17g.44351712T>ACA399765927GRNc.1096T>A (p.Cys366Ser)
c.537T>A
c.625T>A (p.Cys209Ser)
n.354T>A
17g.44351712T>CCA399765930GRNc.1096T>C (p.Cys366Arg)
c.537T>C
c.625T>C (p.Cys209Arg)
n.354T>C
17g.44351712T>GCA399765933GRNc.1096T>G (p.Cys366Gly)
c.537T>G
c.625T>G (p.Cys209Gly)
n.354T>G
17g.44351713G>ACA290926425GRNc.1097G>A (p.Cys366Tyr)
c.538G>A
c.626G>A (p.Cys209Tyr)
n.355G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.44351713G>CCA399765943GRNc.1097G>C (p.Cys366Ser)
c.538G>C
c.626G>C (p.Cys209Ser)
n.355G>C
17g.44351713G=CA2261354287GRNc.1097G= (p.Cys366=)
c.538G=
c.626G= (p.Cys209=)
n.355G=
17g.44351713G>TCA399765946GRNc.1097G>T (p.Cys366Phe)
c.538G>T
c.626G>T (p.Cys209Phe)
n.355G>T
gnomAD v4
17g.44351714T>ACA399765950GRNc.1098T>A (p.Cys366Ter)
c.539T>A
c.627T>A (p.Cys209Ter)
n.356T>A
17g.44351714T>CCA500622091GRNc.1098T>C (p.Cys366=)
c.539T>C
c.627T>C (p.Cys209=)
n.356T>C
17g.44351714T>GCA399765956GRNc.1098T>G (p.Cys366Trp)
c.539T>G
c.627T>G (p.Cys209Trp)
n.356T>G
17g.44351715G>ACA399765960GRNc.1099G>A (p.Asp367Asn)
c.540G>A
c.628G>A (p.Asp210Asn)
n.357G>A
17g.44351715G>CCA399765963GRNc.1099G>C (p.Asp367His)
c.540G>C
c.628G>C (p.Asp210His)
n.357G>C
gnomAD v4
17g.44351715G>TCA399765966GRNc.1099G>T (p.Asp367Tyr)
c.540G>T
c.628G>T (p.Asp210Tyr)
n.357G>T
17g.44351715_44351718delinsGATACA2261354288GRNc.1099_1102delinsGATA (p.Asp367=)
c.540_543delinsGATA
c.628_631delinsGATA (p.Asp210=)
n.357_360delinsGATA
17g.44351716A=CA2261354289GRNc.1100A= (p.Asp367=)
c.541A=
c.629A= (p.Asp210=)
n.358A=
17g.44351716A>CCA399765975GRNc.1100A>C (p.Asp367Ala)
c.541A>C
c.629A>C (p.Asp210Ala)
n.358A>C
17g.44351716A>GCA399765971GRNc.1100A>G (p.Asp367Gly)
c.541A>G
c.629A>G (p.Asp210Gly)
n.358A>G
17g.44351716A>TCA8602099GRNc.1100A>T (p.Asp367Val)
c.541A>T
c.629A>T (p.Asp210Val)
n.358A>T
dbSNP ExAC gnomAD v2
17g.44351718_44351720delCA626224175GRNc.1102_1104del (p.Asn368del)
c.543_545del
c.631_633del (p.Asn211del)
n.360_362del
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.44351717T>ACA399765978GRNc.1101T>A (p.Asp367Glu)
c.542T>A
c.630T>A (p.Asp210Glu)
n.359T>A
17g.44351717T>CCA8602100GRNc.1101T>C (p.Asp367=)
c.542T>C
c.630T>C (p.Asp210=)
n.359T>C
dbSNP ExAC gnomAD v2 gnomAD v4
17g.44351717T>GCA399765981GRNc.1101T>G (p.Asp367Glu)
c.542T>G
c.630T>G (p.Asp210Glu)
n.359T>G
17g.44351717T=CA2261354290GRNc.1101T= (p.Asp367=)
c.542T=
c.630T= (p.Asp210=)
n.359T=
17g.44351718A=CA2261354291GRNc.1102A= (p.Asn368=)
c.543A=
c.631A= (p.Asn211=)
n.360A=
17g.44351718A>CCA399765987GRNc.1102A>C (p.Asn368His)
c.543A>C
c.631A>C (p.Asn211His)
n.360A>C
17g.44351718A>GCA399765991GRNc.1102A>G (p.Asn368Asp)
c.543A>G
c.631A>G (p.Asn211Asp)
n.360A>G
dbSNP
17g.44351718A>TCA399765994GRNc.1102A>T (p.Asn368Tyr)
c.543A>T
c.631A>T (p.Asn211Tyr)
n.360A>T
17g.44351719A=CA2261354292GRNc.1103A= (p.Asn368=)
c.544A=
c.632A= (p.Asn211=)
n.361A=
17g.44351719A>CCA399765997GRNc.1103A>C (p.Asn368Thr)
c.544A>C
c.632A>C (p.Asn211Thr)
n.361A>C
dbSNP gnomAD v3 gnomAD v4
17g.44351719A>GCA399766000GRNc.1103A>G (p.Asn368Ser)
c.544A>G
c.632A>G (p.Asn211Ser)
n.361A>G
17g.44351719A>TCA399766003GRNc.1103A>T (p.Asn368Ile)
c.544A>T
c.632A>T (p.Asn211Ile)
n.361A>T
17g.44351720T>ACA399766008GRNc.1104T>A (p.Asn368Lys)
c.545T>A
c.633T>A (p.Asn211Lys)
n.362T>A
17g.44351720T>CCA500622095GRNc.1104T>C (p.Asn368=)
c.545T>C
c.633T>C (p.Asn211=)
n.362T>C
dbSNP gnomAD v2 gnomAD v4
17g.44351720T>GCA399766007GRNc.1104T>G (p.Asn368Lys)
c.545T>G
c.633T>G (p.Asn211Lys)
n.362T>G
17g.44351720T=CA2261354293GRNc.1104T= (p.Asn368=)
c.545T=
c.633T= (p.Asn211=)
n.362T=
17g.44351721G>ACA399766012GRNc.1105G>A (p.Val369Ile)
c.546G>A
c.634G>A (p.Val212Ile)
n.363G>A
gnomAD v4
17g.44351721G>CCA399766015GRNc.1105G>C (p.Val369Leu)
c.546G>C
c.634G>C (p.Val212Leu)
n.363G>C
17g.44351721G=CA2261354294GRNc.1105G= (p.Val369=)
c.546G=
c.634G= (p.Val212=)
n.363G=
17g.44351721G>TCA399766017GRNc.1105G>T (p.Val369Phe)
c.546G>T
c.634G>T (p.Val212Phe)
n.363G>T
dbSNP gnomAD v2

Number of alleles fetched