Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.168996627delCA2661808338ABCB11c.477+8del (n.477+8del)
c.519+8del (n.519+8del)
c.579+8del (n.579+8del)
gnomAD v4
2g.168996627C>ACA1951883ABCB11c.477+8G>T (n.477+8G>T)
c.519+8G>T (n.519+8G>T)
c.579+8G>T (n.579+8G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168996627C=CA1306236736ABCB11c.477+8G= (n.477+8G=)
c.519+8G= (n.519+8G=)
c.579+8G= (n.579+8G=)
2g.168996627C>GCA2697551285ABCB11c.477+8G>C (n.477+8G>C)
c.519+8G>C (n.519+8G>C)
c.579+8G>C (n.579+8G>C)
ClinVar
2g.168996627C>TCA2661808340ABCB11c.477+8G>A (n.477+8G>A)
c.519+8G>A (n.519+8G>A)
c.579+8G>A (n.579+8G>A)
gnomAD v4
2g.168996630_168996632delCA2661808339ABCB11c.477+6_477+8del (n.477+6_477+8del)
c.519+6_519+8del (n.519+6_519+8del)
c.579+6_579+8del (n.579+6_579+8del)
gnomAD v4
2g.168996628T>ACA537528962ABCB11c.477+7A>T (n.477+7A>T)
c.519+7A>T (n.519+7A>T)
c.579+7A>T (n.579+7A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168996628T>CCA1306236741ABCB11c.477+7A>G (n.477+7A>G)
c.519+7A>G (n.519+7A>G)
c.579+7A>G (n.579+7A>G)
dbSNP gnomAD v4
2g.168996628T=CA1306236739ABCB11c.477+7A= (n.477+7A=)
c.519+7A= (n.519+7A=)
c.579+7A= (n.579+7A=)
2g.168996629delCA2661808342ABCB11c.477+6del (n.477+6del)
c.519+6del (n.519+6del)
c.579+6del (n.579+6del)
gnomAD v4
2g.168996629A>CCA2753095917ABCB11c.477+6T>G (n.477+6T>G)
c.519+6T>G (n.519+6T>G)
c.579+6T>G (n.579+6T>G)
2g.168996629A>GCA2661808341ABCB11c.477+6T>C (n.477+6T>C)
c.519+6T>C (n.519+6T>C)
c.579+6T>C (n.579+6T>C)
gnomAD v4
2g.168996629A>TCA2586970422ABCB11c.477+6T>A (n.477+6T>A)
c.519+6T>A (n.519+6T>A)
c.579+6T>A (n.579+6T>A)
gnomAD v4
2g.168996630C>ACA2661808343ABCB11c.477+5G>T (n.477+5G>T)
c.519+5G>T (n.519+5G>T)
c.579+5G>T (n.579+5G>T)
gnomAD v4
2g.168996630C=CA1306236742ABCB11c.477+5G= (n.477+5G=)
c.519+5G= (n.519+5G=)
c.579+5G= (n.579+5G=)
2g.168996630C>GCA913189525ABCB11c.477+5G>C (n.477+5G>C)
c.519+5G>C (n.519+5G>C)
c.579+5G>C (n.579+5G>C)
ClinVar dbSNP
2g.168996630C>TCA2661808344ABCB11c.477+5G>A (n.477+5G>A)
c.519+5G>A (n.519+5G>A)
c.579+5G>A (n.579+5G>A)
gnomAD v4
2g.168996631T>CCA2661808345ABCB11c.477+4A>G (n.477+4A>G)
c.519+4A>G (n.519+4A>G)
c.579+4A>G (n.579+4A>G)
gnomAD v4
2g.168996632A>GCA2577148359ABCB11c.477+3T>C (n.477+3T>C)
c.519+3T>C (n.519+3T>C)
c.579+3T>C (n.579+3T>C)
gnomAD v4
2g.168996633delCA2661808346ABCB11c.477+3del (n.477+3del)
c.519+3del (n.519+3del)
c.579+3del (n.579+3del)
gnomAD v4
2g.168996633A>CCA349132478ABCB11c.477+2T>G (n.477+2T>G)
c.519+2T>G (n.519+2T>G)
c.579+2T>G (n.579+2T>G)
2g.168996633A>GCA349132482ABCB11c.477+2T>C (n.477+2T>C)
c.519+2T>C (n.519+2T>C)
c.579+2T>C (n.579+2T>C)
gnomAD v4
2g.168996633A>TCA349132485ABCB11c.477+2T>A (n.477+2T>A)
c.519+2T>A (n.519+2T>A)
c.579+2T>A (n.579+2T>A)
2g.168996634C>ACA349132488ABCB11c.477+1G>T (n.477+1G>T)
c.519+1G>T (n.519+1G>T)
c.579+1G>T (n.579+1G>T)
gnomAD v4
2g.168996634C=CA1306236749ABCB11c.477+1G= (n.477+1G=)
c.519+1G= (n.519+1G=)
c.579+1G= (n.579+1G=)
2g.168996634C>GCA349132491ABCB11c.477+1G>C (n.477+1G>C)
c.519+1G>C (n.519+1G>C)
c.579+1G>C (n.579+1G>C)
dbSNP gnomAD v3 gnomAD v4
2g.168996634C>TCA349132493ABCB11c.477+1G>A (n.477+1G>A)
c.519+1G>A (n.519+1G>A)
c.579+1G>A (n.579+1G>A)
ClinVar gnomAD v4
2g.168996635T>ACA349132496ABCB11c.477A>T (p.Gln159His)
c.519A>T (p.Gln173His)
c.579A>T (p.Gln193His)
gnomAD v4
2g.168996635T>CCA1951884ABCB11c.477A>G (p.Gln159=)
c.519A>G (p.Gln173=)
c.579A>G (p.Gln193=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168996635T>GCA349132499ABCB11c.477A>C (p.Gln159His)
c.519A>C (p.Gln173His)
c.579A>C (p.Gln193His)
2g.168996635T=CA1306236755ABCB11c.477A= (p.Gln159=)
c.519A= (p.Gln173=)
c.579A= (p.Gln193=)
2g.168996636T>ACA349132508ABCB11c.476A>T (p.Gln159Leu)
c.518A>T (p.Gln173Leu)
c.578A>T (p.Gln193Leu)
2g.168996636T>CCA349132510ABCB11c.476A>G (p.Gln159Arg)
c.518A>G (p.Gln173Arg)
c.578A>G (p.Gln193Arg)
gnomAD v4
2g.168996636T>GCA349132514ABCB11c.476A>C (p.Gln159Pro)
c.518A>C (p.Gln173Pro)
c.578A>C (p.Gln193Pro)
2g.168996637delCA2661808347ABCB11c.475del (p.Gln159LysfsTer16)
c.517del (p.Gln173LysfsTer16)
c.577del (p.Gln193LysfsTer16)
gnomAD v4
2g.168996637G>ACA349132518ABCB11c.475C>T (p.Gln159Ter)
c.517C>T (p.Gln173Ter)
c.577C>T (p.Gln193Ter)
gnomAD v4
2g.168996637G>CCA349132522ABCB11c.475C>G (p.Gln159Glu)
c.517C>G (p.Gln173Glu)
c.577C>G (p.Gln193Glu)
2g.168996637G>TCA349132525ABCB11c.475C>A (p.Gln159Lys)
c.517C>A (p.Gln173Lys)
c.577C>A (p.Gln193Lys)
gnomAD v4
2g.168996638A>CCA349132531ABCB11c.474T>G (p.Ile158Met)
c.516T>G (p.Ile172Met)
c.576T>G (p.Ile192Met)
2g.168996638A>GCA429917512ABCB11c.474T>C (p.Ile158=)
c.516T>C (p.Ile172=)
c.576T>C (p.Ile192=)
gnomAD v4
2g.168996638A>TCA429917513ABCB11c.474T>A (p.Ile158=)
c.516T>A (p.Ile172=)
c.576T>A (p.Ile192=)
2g.168996639A=CA1306236761ABCB11c.473T= (p.Ile158=)
c.515T= (p.Ile172=)
c.575T= (p.Ile192=)
2g.168996639A>CCA349132534ABCB11c.473T>G (p.Ile158Ser)
c.515T>G (p.Ile172Ser)
c.575T>G (p.Ile192Ser)
2g.168996639A>GCA59898834ABCB11c.473T>C (p.Ile158Thr)
c.515T>C (p.Ile172Thr)
c.575T>C (p.Ile192Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168996639A>TCA349132538ABCB11c.473T>A (p.Ile158Asn)
c.515T>A (p.Ile172Asn)
c.575T>A (p.Ile192Asn)
gnomAD v4
2g.168996640T>ACA349132545ABCB11c.472A>T (p.Ile158Phe)
c.514A>T (p.Ile172Phe)
c.574A>T (p.Ile192Phe)
2g.168996640T>CCA349132542ABCB11c.472A>G (p.Ile158Val)
c.514A>G (p.Ile172Val)
c.574A>G (p.Ile192Val)
gnomAD v4
2g.168996640T>GCA349132540ABCB11c.472A>C (p.Ile158Leu)
c.514A>C (p.Ile172Leu)
c.574A>C (p.Ile192Leu)
2g.168996641A>CCA349132546ABCB11c.471T>G (p.Tyr157Ter)
c.513T>G (p.Tyr171Ter)
c.573T>G (p.Tyr191Ter)
2g.168996641A>GCA429917517ABCB11c.471T>C (p.Tyr157=)
c.513T>C (p.Tyr171=)
c.573T>C (p.Tyr191=)
ClinVar gnomAD v4
2g.168996641A>TCA349132549ABCB11c.471T>A (p.Tyr157Ter)
c.513T>A (p.Tyr171Ter)
c.573T>A (p.Tyr191Ter)
2g.168996642T>ACA349132551ABCB11c.470A>T (p.Tyr157Phe)
c.512A>T (p.Tyr171Phe)
c.572A>T (p.Tyr191Phe)
2g.168996642T>CCA349132553ABCB11c.470A>G (p.Tyr157Cys)
c.512A>G (p.Tyr171Cys)
c.572A>G (p.Tyr191Cys)
gnomAD v4
2g.168996642T>GCA349132555ABCB11c.470A>C (p.Tyr157Ser)
c.512A>C (p.Tyr171Ser)
c.572A>C (p.Tyr191Ser)
2g.168996643A>CCA349132557ABCB11c.469T>G (p.Tyr157Asp)
c.511T>G (p.Tyr171Asp)
c.571T>G (p.Tyr191Asp)
2g.168996643A>GCA349132560ABCB11c.469T>C (p.Tyr157His)
c.511T>C (p.Tyr171His)
c.571T>C (p.Tyr191His)
gnomAD v4
2g.168996643A>TCA349132563ABCB11c.469T>A (p.Tyr157Asn)
c.511T>A (p.Tyr171Asn)
c.571T>A (p.Tyr191Asn)
2g.168996644T>ACA429917519ABCB11c.468A>T (p.Gly156=)
c.510A>T (p.Gly170=)
c.570A>T (p.Gly190=)
dbSNP gnomAD v3 gnomAD v4
2g.168996644T>CCA1951885ABCB11c.468A>G (p.Gly156=)
c.510A>G (p.Gly170=)
c.570A>G (p.Gly190=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168996644T>GCA429917520ABCB11c.468A>C (p.Gly156=)
c.510A>C (p.Gly170=)
c.570A>C (p.Gly190=)
2g.168996644T=CA1306236764ABCB11c.468A= (p.Gly156=)
c.510A= (p.Gly170=)
c.570A= (p.Gly190=)
2g.168996645C>ACA349132568ABCB11c.467G>T (p.Gly156Val)
c.509G>T (p.Gly170Val)
c.569G>T (p.Gly190Val)
gnomAD v4
2g.168996645C>GCA349132570ABCB11c.467G>C (p.Gly156Ala)
c.509G>C (p.Gly170Ala)
c.569G>C (p.Gly190Ala)
COSMIC COSMIC
2g.168996645C>TCA349132572ABCB11c.467G>A (p.Gly156Glu)
c.509G>A (p.Gly170Glu)
c.569G>A (p.Gly190Glu)
gnomAD v4
2g.168996646C>ACA349132574ABCB11c.466G>T (p.Gly156Ter)
c.508G>T (p.Gly170Ter)
c.568G>T (p.Gly190Ter)
gnomAD v4
2g.168996646C>GCA349132578ABCB11c.466G>C (p.Gly156Arg)
c.508G>C (p.Gly170Arg)
c.568G>C (p.Gly190Arg)
2g.168996646C>TCA349132580ABCB11c.466G>A (p.Gly156Arg)
c.508G>A (p.Gly170Arg)
c.568G>A (p.Gly190Arg)
gnomAD v4
2g.168996647T>ACA429917522ABCB11c.465A>T (p.Thr155=)
c.507A>T (p.Thr169=)
c.567A>T (p.Thr189=)
dbSNP gnomAD v2 gnomAD v4
2g.168996647T>CCA429917523ABCB11c.465A>G (p.Thr155=)
c.507A>G (p.Thr169=)
c.567A>G (p.Thr189=)
gnomAD v4
2g.168996647T>GCA429917521ABCB11c.465A>C (p.Thr155=)
c.507A>C (p.Thr169=)
c.567A>C (p.Thr189=)
2g.168996647T=CA1306236767ABCB11c.465A= (p.Thr155=)
c.507A= (p.Thr169=)
c.567A= (p.Thr189=)
2g.168996648G>ACA349132582ABCB11c.464C>T (p.Thr155Ile)
c.506C>T (p.Thr169Ile)
c.566C>T (p.Thr189Ile)
gnomAD v3 gnomAD v4
2g.168996648G>CCA349132584ABCB11c.464C>G (p.Thr155Arg)
c.506C>G (p.Thr169Arg)
c.566C>G (p.Thr189Arg)
2g.168996648G>TCA349132583ABCB11c.464C>A (p.Thr155Lys)
c.506C>A (p.Thr169Lys)
c.566C>A (p.Thr189Lys)
gnomAD v4
2g.168996649T>ACA349132586ABCB11c.463A>T (p.Thr155Ser)
c.505A>T (p.Thr169Ser)
c.565A>T (p.Thr189Ser)
2g.168996649T>CCA349132587ABCB11c.463A>G (p.Thr155Ala)
c.505A>G (p.Thr169Ala)
c.565A>G (p.Thr189Ala)
gnomAD v4
2g.168996649T>GCA349132589ABCB11c.463A>C (p.Thr155Pro)
c.505A>C (p.Thr169Pro)
c.565A>C (p.Thr189Pro)
2g.168996650G>ACA429917528ABCB11c.462C>T (p.Ile154=)
c.504C>T (p.Ile168=)
c.564C>T (p.Ile188=)
gnomAD v4
2g.168996650G>CCA349132592ABCB11c.462C>G (p.Ile154Met)
c.504C>G (p.Ile168Met)
c.564C>G (p.Ile188Met)
2g.168996650G>TCA429917527ABCB11c.462C>A (p.Ile154=)
c.504C>A (p.Ile168=)
c.564C>A (p.Ile188=)
gnomAD v4
2g.168996651A=CA1306236771ABCB11c.461T= (p.Ile154=)
c.503T= (p.Ile168=)
c.563T= (p.Ile188=)
2g.168996651A>CCA349132593ABCB11c.461T>G (p.Ile154Ser)
c.503T>G (p.Ile168Ser)
c.563T>G (p.Ile188Ser)
2g.168996651A>GCA1951886ABCB11c.461T>C (p.Ile154Thr)
c.503T>C (p.Ile168Thr)
c.563T>C (p.Ile188Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.168996651A>TCA349132595ABCB11c.461T>A (p.Ile154Asn)
c.503T>A (p.Ile168Asn)
c.563T>A (p.Ile188Asn)
gnomAD v4
2g.168996652T>ACA349132596ABCB11c.460A>T (p.Ile154Phe)
c.502A>T (p.Ile168Phe)
c.562A>T (p.Ile188Phe)
2g.168996652T>CCA349132597ABCB11c.460A>G (p.Ile154Val)
c.502A>G (p.Ile168Val)
c.562A>G (p.Ile188Val)
gnomAD v4
2g.168996652T>GCA349132598ABCB11c.460A>C (p.Ile154Leu)
c.502A>C (p.Ile168Leu)
c.562A>C (p.Ile188Leu)
2g.168996653A>CCA429917532ABCB11c.459T>G (p.Leu153=)
c.501T>G (p.Leu167=)
c.561T>G (p.Leu187=)
gnomAD v4
2g.168996653A>GCA429917534ABCB11c.459T>C (p.Leu153=)
c.501T>C (p.Leu167=)
c.561T>C (p.Leu187=)
gnomAD v4
2g.168996653A>TCA429917533ABCB11c.459T>A (p.Leu153=)
c.501T>A (p.Leu167=)
c.561T>A (p.Leu187=)
2g.168996654delCA2661808348ABCB11c.459del (p.Ile154SerfsTer21)
c.501del (p.Ile168SerfsTer21)
c.561del (p.Ile188SerfsTer21)
gnomAD v4
2g.168996654A>CCA349132600ABCB11c.458T>G (p.Leu153Arg)
c.500T>G (p.Leu167Arg)
c.560T>G (p.Leu187Arg)
2g.168996654A>GCA349132601ABCB11c.458T>C (p.Leu153Pro)
c.500T>C (p.Leu167Pro)
c.560T>C (p.Leu187Pro)
gnomAD v4
2g.168996654A>TCA349132599ABCB11c.458T>A (p.Leu153His)
c.500T>A (p.Leu167His)
c.560T>A (p.Leu187His)
2g.168996655G>ACA59898849ABCB11c.457C>T (p.Leu153Phe)
c.499C>T (p.Leu167Phe)
c.559C>T (p.Leu187Phe)
dbSNP gnomAD v2 gnomAD v4
2g.168996655G>CCA349132602ABCB11c.457C>G (p.Leu153Val)
c.499C>G (p.Leu167Val)
c.559C>G (p.Leu187Val)
2g.168996655G=CA1306236774ABCB11c.457C= (p.Leu153=)
c.499C= (p.Leu167=)
c.559C= (p.Leu187=)
2g.168996655G>TCA349132604ABCB11c.457C>A (p.Leu153Ile)
c.499C>A (p.Leu167Ile)
c.559C>A (p.Leu187Ile)
gnomAD v4
2g.168996656T>ACA429917535ABCB11c.456A>T (p.Val152=)
c.498A>T (p.Val166=)
c.558A>T (p.Val186=)
2g.168996656T>CCA429917536ABCB11c.456A>G (p.Val152=)
c.498A>G (p.Val166=)
c.558A>G (p.Val186=)
gnomAD v4
2g.168996656T>GCA429917537ABCB11c.456A>C (p.Val152=)
c.498A>C (p.Val166=)
c.558A>C (p.Val186=)
2g.168996657A>CCA349132606ABCB11c.455T>G (p.Val152Gly)
c.497T>G (p.Val166Gly)
c.557T>G (p.Val186Gly)
2g.168996657A>GCA349132607ABCB11c.455T>C (p.Val152Ala)
c.497T>C (p.Val166Ala)
c.557T>C (p.Val186Ala)
gnomAD v4
2g.168996657A>TCA349132609ABCB11c.455T>A (p.Val152Glu)
c.497T>A (p.Val166Glu)
c.557T>A (p.Val186Glu)
2g.168996658C>ACA349132611ABCB11c.454G>T (p.Val152Leu)
c.496G>T (p.Val166Leu)
c.556G>T (p.Val186Leu)
2g.168996658C=CA1306236779ABCB11c.454G= (p.Val152=)
c.496G= (p.Val166=)
c.556G= (p.Val186=)
2g.168996658C>GCA349132613ABCB11c.454G>C (p.Val152Leu)
c.496G>C (p.Val166Leu)
c.556G>C (p.Val186Leu)
gnomAD v4
2g.168996658C>TCA1951887ABCB11c.454G>A (p.Val152Ile)
c.496G>A (p.Val166Ile)
c.556G>A (p.Val186Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.168996659T>ACA429917539ABCB11c.453A>T (p.Ala151=)
c.495A>T (p.Ala165=)
c.555A>T (p.Ala185=)
2g.168996659T>CCA59898856ABCB11c.453A>G (p.Ala151=)
c.495A>G (p.Ala165=)
c.555A>G (p.Ala185=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168996659T>GCA429917541ABCB11c.453A>C (p.Ala151=)
c.495A>C (p.Ala165=)
c.555A>C (p.Ala185=)
2g.168996659T=CA1306236781ABCB11c.453A= (p.Ala151=)
c.495A= (p.Ala165=)
c.555A= (p.Ala185=)
2g.168996660G>ACA349132617ABCB11c.452C>T (p.Ala151Val)
c.494C>T (p.Ala165Val)
c.554C>T (p.Ala185Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168996660G>CCA349132619ABCB11c.452C>G (p.Ala151Gly)
c.494C>G (p.Ala165Gly)
c.554C>G (p.Ala185Gly)
2g.168996660G=CA1306236783ABCB11c.452C= (p.Ala151=)
c.494C= (p.Ala165=)
c.554C= (p.Ala185=)
2g.168996660G>TCA349132620ABCB11c.452C>A (p.Ala151Glu)
c.494C>A (p.Ala165Glu)
c.554C>A (p.Ala185Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168996661C>ACA349132624ABCB11c.451G>T (p.Ala151Ser)
c.493G>T (p.Ala165Ser)
c.553G>T (p.Ala185Ser)
dbSNP gnomAD v4
2g.168996661C=CA1306236785ABCB11c.451G= (p.Ala151=)
c.493G= (p.Ala165=)
c.553G= (p.Ala185=)
2g.168996661C>GCA349132623ABCB11c.451G>C (p.Ala151Pro)
c.493G>C (p.Ala165Pro)
c.553G>C (p.Ala185Pro)
gnomAD v4
2g.168996661C>TCA1951888ABCB11c.451G>A (p.Ala151Thr)
c.493G>A (p.Ala165Thr)
c.553G>A (p.Ala185Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.168996662G>ACA1951889ABCB11c.450C>T (p.Val150=)
c.492C>T (p.Val164=)
c.552C>T (p.Val184=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.168996662G>CCA59898863ABCB11c.450C>G (p.Val150=)
c.492C>G (p.Val164=)
c.552C>G (p.Val184=)
dbSNP gnomAD v4
2g.168996662G=CA1306236791ABCB11c.450C= (p.Val150=)
c.492C= (p.Val164=)
c.552C= (p.Val184=)
2g.168996662G>TCA429917545ABCB11c.450C>A (p.Val150=)
c.492C>A (p.Val164=)
c.552C>A (p.Val184=)
gnomAD v4
2g.168996663A>CCA349132628ABCB11c.449T>G (p.Val150Gly)
c.491T>G (p.Val164Gly)
c.551T>G (p.Val184Gly)
2g.168996663A>GCA349132629ABCB11c.449T>C (p.Val150Ala)
c.491T>C (p.Val164Ala)
c.551T>C (p.Val184Ala)
gnomAD v4
2g.168996663A>TCA349132631ABCB11c.449T>A (p.Val150Asp)
c.491T>A (p.Val164Asp)
c.551T>A (p.Val184Asp)
gnomAD v4
2g.168996664C>ACA349132633ABCB11c.448G>T (p.Val150Phe)
c.490G>T (p.Val164Phe)
c.550G>T (p.Val184Phe)
gnomAD v4
2g.168996664C>GCA349132635ABCB11c.448G>C (p.Val150Leu)
c.490G>C (p.Val164Leu)
c.550G>C (p.Val184Leu)
2g.168996664C>TCA349132636ABCB11c.448G>A (p.Val150Ile)
c.490G>A (p.Val164Ile)
c.550G>A (p.Val184Ile)
gnomAD v4
2g.168996665A=CA1306236794ABCB11c.447T= (p.Ala149=)
c.489T= (p.Ala163=)
c.549T= (p.Ala183=)
2g.168996665A>CCA429917547ABCB11c.447T>G (p.Ala149=)
c.489T>G (p.Ala163=)
c.549T>G (p.Ala183=)
2g.168996665A>GCA429917548ABCB11c.447T>C (p.Ala149=)
c.489T>C (p.Ala163=)
c.549T>C (p.Ala183=)
gnomAD v4
2g.168996665A>TCA429917549ABCB11c.447T>A (p.Ala149=)
c.489T>A (p.Ala163=)
c.549T>A (p.Ala183=)
dbSNP gnomAD v3 gnomAD v4
2g.168996666G>ACA349132637ABCB11c.446C>T (p.Ala149Val)
c.488C>T (p.Ala163Val)
c.548C>T (p.Ala183Val)
dbSNP gnomAD v2 gnomAD v4
2g.168996666G>CCA349132638ABCB11c.446C>G (p.Ala149Gly)
c.488C>G (p.Ala163Gly)
c.548C>G (p.Ala183Gly)
gnomAD v4
2g.168996666G=CA1306236797ABCB11c.446C= (p.Ala149=)
c.488C= (p.Ala163=)
c.548C= (p.Ala183=)
2g.168996666G>TCA349132639ABCB11c.446C>A (p.Ala149Asp)
c.488C>A (p.Ala163Asp)
c.548C>A (p.Ala183Asp)
gnomAD v4
2g.168996667C>ACA349132642ABCB11c.445G>T (p.Ala149Ser)
c.487G>T (p.Ala163Ser)
c.547G>T (p.Ala183Ser)
dbSNP gnomAD v3 gnomAD v4
2g.168996667C=CA1306236801ABCB11c.445G= (p.Ala149=)
c.487G= (p.Ala163=)
c.547G= (p.Ala183=)
2g.168996667C>GCA349132644ABCB11c.445G>C (p.Ala149Pro)
c.487G>C (p.Ala163Pro)
c.547G>C (p.Ala183Pro)
2g.168996667C>TCA349132645ABCB11c.445G>A (p.Ala149Thr)
c.487G>A (p.Ala163Thr)
c.547G>A (p.Ala183Thr)
gnomAD v3 gnomAD v4
2g.168996668A>CCA349132647ABCB11c.444T>G (p.Ile148Met)
c.486T>G (p.Ile162Met)
c.546T>G (p.Ile182Met)
2g.168996668A>GCA429917553ABCB11c.444T>C (p.Ile148=)
c.486T>C (p.Ile162=)
c.546T>C (p.Ile182=)
gnomAD v4
2g.168996668A>TCA429917551ABCB11c.444T>A (p.Ile148=)
c.486T>A (p.Ile162=)
c.546T>A (p.Ile182=)
2g.168996669A>CCA349132651ABCB11c.443T>G (p.Ile148Ser)
c.485T>G (p.Ile162Ser)
c.545T>G (p.Ile182Ser)
2g.168996669A>GCA349132650ABCB11c.443T>C (p.Ile148Thr)
c.485T>C (p.Ile162Thr)
c.545T>C (p.Ile182Thr)
gnomAD v4
2g.168996669A>TCA349132652ABCB11c.443T>A (p.Ile148Asn)
c.485T>A (p.Ile162Asn)
c.545T>A (p.Ile182Asn)
2g.168996670T>ACA349132655ABCB11c.442A>T (p.Ile148Phe)
c.484A>T (p.Ile162Phe)
c.544A>T (p.Ile182Phe)
gnomAD v4
2g.168996670T>CCA349132659ABCB11c.442A>G (p.Ile148Val)
c.484A>G (p.Ile162Val)
c.544A>G (p.Ile182Val)
gnomAD v4
2g.168996670T>GCA349132656ABCB11c.442A>C (p.Ile148Leu)
c.484A>C (p.Ile162Leu)
c.544A>C (p.Ile182Leu)
2g.168996671T>ACA429917556ABCB11c.441A>T (p.Gly147=)
c.483A>T (p.Gly161=)
c.543A>T (p.Gly181=)
2g.168996671T>CCA429917557ABCB11c.441A>G (p.Gly147=)
c.483A>G (p.Gly161=)
c.543A>G (p.Gly181=)
gnomAD v4
2g.168996671T>GCA429917558ABCB11c.441A>C (p.Gly147=)
c.483A>C (p.Gly161=)
c.543A>C (p.Gly181=)
2g.168996672C>ACA349132661ABCB11c.440G>T (p.Gly147Val)
c.482G>T (p.Gly161Val)
c.542G>T (p.Gly181Val)
gnomAD v4
2g.168996672C>GCA349132662ABCB11c.440G>C (p.Gly147Ala)
c.482G>C (p.Gly161Ala)
c.542G>C (p.Gly181Ala)
2g.168996672C>TCA349132664ABCB11c.440G>A (p.Gly147Glu)
c.482G>A (p.Gly161Glu)
c.542G>A (p.Gly181Glu)
2g.168996673delCA2661808349ABCB11c.440del (p.Gly147GlufsTer28)
c.482del (p.Gly161GlufsTer28)
c.542del (p.Gly181GlufsTer28)
gnomAD v4
2g.168996673C>ACA349132667ABCB11c.439G>T (p.Gly147Ter)
c.481G>T (p.Gly161Ter)
c.541G>T (p.Gly181Ter)
gnomAD v4
2g.168996673C>GCA349132668ABCB11c.439G>C (p.Gly147Arg)
c.481G>C (p.Gly161Arg)
c.541G>C (p.Gly181Arg)
2g.168996673C>TCA349132670ABCB11c.439G>A (p.Gly147Arg)
c.481G>A (p.Gly161Arg)
c.541G>A (p.Gly181Arg)
gnomAD v4
2g.168996674A=CA1306236803ABCB11c.438T= (p.Ala146=)
c.480T= (p.Ala160=)
c.540T= (p.Ala180=)
2g.168996674A>CCA429917559ABCB11c.438T>G (p.Ala146=)
c.480T>G (p.Ala160=)
c.540T>G (p.Ala180=)
2g.168996674A>GCA59898865ABCB11c.438T>C (p.Ala146=)
c.480T>C (p.Ala160=)
c.540T>C (p.Ala180=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168996674A>TCA429917560ABCB11c.438T>A (p.Ala146=)
c.480T>A (p.Ala160=)
c.540T>A (p.Ala180=)
ClinVar gnomAD v4
2g.168996675G>ACA349132672ABCB11c.437C>T (p.Ala146Val)
c.479C>T (p.Ala160Val)
c.539C>T (p.Ala180Val)
gnomAD v4
2g.168996675G>CCA349132674ABCB11c.437C>G (p.Ala146Gly)
c.479C>G (p.Ala160Gly)
c.539C>G (p.Ala180Gly)
gnomAD v4
2g.168996675G>TCA349132676ABCB11c.437C>A (p.Ala146Asp)
c.479C>A (p.Ala160Asp)
c.539C>A (p.Ala180Asp)
gnomAD v4
2g.168996676C>ACA349132678ABCB11c.436G>T (p.Ala146Ser)
c.478G>T (p.Ala160Ser)
c.538G>T (p.Ala180Ser)
gnomAD v4
2g.168996676C=CA1306236806ABCB11c.436G= (p.Ala146=)
c.478G= (p.Ala160=)
c.538G= (p.Ala180=)
2g.168996676C>GCA349132680ABCB11c.436G>C (p.Ala146Pro)
c.478G>C (p.Ala160Pro)
c.538G>C (p.Ala180Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168996676C>TCA349132681ABCB11c.436G>A (p.Ala146Thr)
c.478G>A (p.Ala160Thr)
c.538G>A (p.Ala180Thr)
gnomAD v4
2g.168996677A=CA1306236808ABCB11c.435T= (p.Tyr145=)
c.477T= (p.Tyr159=)
c.537T= (p.Tyr179=)
2g.168996677A>CCA349132685ABCB11c.435T>G (p.Tyr145Ter)
c.477T>G (p.Tyr159Ter)
c.537T>G (p.Tyr179Ter)
ClinVar
2g.168996677A>GCA1951890ABCB11c.435T>C (p.Tyr145=)
c.477T>C (p.Tyr159=)
c.537T>C (p.Tyr179=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168996677A>TCA349132683ABCB11c.435T>A (p.Tyr145Ter)
c.477T>A (p.Tyr159Ter)
c.537T>A (p.Tyr179Ter)
gnomAD v4
2g.168996678T>ACA349132687ABCB11c.434A>T (p.Tyr145Phe)
c.476A>T (p.Tyr159Phe)
c.536A>T (p.Tyr179Phe)
2g.168996678T>CCA349132688ABCB11c.434A>G (p.Tyr145Cys)
c.476A>G (p.Tyr159Cys)
c.536A>G (p.Tyr179Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.168996678T>GCA349132691ABCB11c.434A>C (p.Tyr145Ser)
c.476A>C (p.Tyr159Ser)
c.536A>C (p.Tyr179Ser)
2g.168996678T=CA1306236814ABCB11c.434A= (p.Tyr145=)
c.476A= (p.Tyr159=)
c.536A= (p.Tyr179=)
2g.168996679A>CCA349132693ABCB11c.433T>G (p.Tyr145Asp)
c.475T>G (p.Tyr159Asp)
c.535T>G (p.Tyr179Asp)
2g.168996679A>GCA349132694ABCB11c.433T>C (p.Tyr145His)
c.475T>C (p.Tyr159His)
c.535T>C (p.Tyr179His)
gnomAD v4
2g.168996679A>TCA349132696ABCB11c.433T>A (p.Tyr145Asn)
c.475T>A (p.Tyr159Asn)
c.535T>A (p.Tyr179Asn)
2g.168996680G>ACA429917563ABCB11c.432C>T (p.Tyr144=)
c.474C>T (p.Tyr158=)
c.534C>T (p.Tyr178=)
gnomAD v4
2g.168996680G>CCA349132699ABCB11c.432C>G (p.Tyr144Ter)
c.474C>G (p.Tyr158Ter)
c.534C>G (p.Tyr178Ter)
2g.168996680G>TCA349132700ABCB11c.432C>A (p.Tyr144Ter)
c.474C>A (p.Tyr158Ter)
c.534C>A (p.Tyr178Ter)
gnomAD v4
2g.168996680dupCA2695196977ABCB11c.432dup (p.Tyr145LeufsTer?)
c.474dup (p.Tyr159LeufsTer?)
c.534dup (p.Tyr179LeufsTer?)
ClinVar
2g.168996681T>ACA349132703ABCB11c.431A>T (p.Tyr144Phe)
c.473A>T (p.Tyr158Phe)
c.533A>T (p.Tyr178Phe)
2g.168996681T>CCA349132704ABCB11c.431A>G (p.Tyr144Cys)
c.473A>G (p.Tyr158Cys)
c.533A>G (p.Tyr178Cys)
gnomAD v4
2g.168996681T>GCA349132706ABCB11c.431A>C (p.Tyr144Ser)
c.473A>C (p.Tyr158Ser)
c.533A>C (p.Tyr178Ser)
2g.168996682A=CA1306236817ABCB11c.430T= (p.Tyr144=)
c.472T= (p.Tyr158=)
c.532T= (p.Tyr178=)
2g.168996682A>CCA349132712ABCB11c.430T>G (p.Tyr144Asp)
c.472T>G (p.Tyr158Asp)
c.532T>G (p.Tyr178Asp)
2g.168996682A>GCA349132710ABCB11c.430T>C (p.Tyr144His)
c.472T>C (p.Tyr158His)
c.532T>C (p.Tyr178His)
gnomAD v4
2g.168996682A>TCA349132709ABCB11c.430T>A (p.Tyr144Asn)
c.472T>A (p.Tyr158Asn)
c.532T>A (p.Tyr178Asn)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.168996683A>CCA349132714ABCB11c.429T>G (p.Ser143Arg)
c.471T>G (p.Ser157Arg)
c.531T>G (p.Ser177Arg)
2g.168996683A>GCA429917565ABCB11c.429T>C (p.Ser143=)
c.471T>C (p.Ser157=)
c.531T>C (p.Ser177=)
2g.168996683A>TCA349132715ABCB11c.429T>A (p.Ser143Arg)
c.471T>A (p.Ser157Arg)
c.531T>A (p.Ser177Arg)
2g.168996684C>ACA349132717ABCB11c.428G>T (p.Ser143Ile)
c.470G>T (p.Ser157Ile)
c.530G>T (p.Ser177Ile)
dbSNP gnomAD v2 gnomAD v4
2g.168996684C=CA1306236822ABCB11c.428G= (p.Ser143=)
c.470G= (p.Ser157=)
c.530G= (p.Ser177=)
2g.168996684C>GCA349132718ABCB11c.428G>C (p.Ser143Thr)
c.470G>C (p.Ser157Thr)
c.530G>C (p.Ser177Thr)
dbSNP
2g.168996684C>TCA1951891ABCB11c.428G>A (p.Ser143Asn)
c.470G>A (p.Ser157Asn)
c.530G>A (p.Ser177Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168996685T>ACA349132721ABCB11c.427A>T (p.Ser143Cys)
c.469A>T (p.Ser157Cys)
c.529A>T (p.Ser177Cys)
gnomAD v4
2g.168996685T>CCA349132722ABCB11c.427A>G (p.Ser143Gly)
c.469A>G (p.Ser157Gly)
c.529A>G (p.Ser177Gly)
gnomAD v4
2g.168996685T>GCA349132724ABCB11c.427A>C (p.Ser143Arg)
c.469A>C (p.Ser157Arg)
c.529A>C (p.Ser177Arg)
2g.168996686G>ACA429917567ABCB11c.426C>T (p.Ala142=)
c.468C>T (p.Ala156=)
c.528C>T (p.Ala176=)
gnomAD v4
2g.168996686G>CCA429917568ABCB11c.426C>G (p.Ala142=)
c.468C>G (p.Ala156=)
c.528C>G (p.Ala176=)
gnomAD v4
2g.168996686G>TCA429917569ABCB11c.426C>A (p.Ala142=)
c.468C>A (p.Ala156=)
c.528C>A (p.Ala176=)
gnomAD v4
2g.168996687G>ACA59898879ABCB11c.425C>T (p.Ala142Val)
c.467C>T (p.Ala156Val)
c.527C>T (p.Ala176Val)
dbSNP gnomAD v4
2g.168996687G>CCA349132727ABCB11c.425C>G (p.Ala142Gly)
c.467C>G (p.Ala156Gly)
c.527C>G (p.Ala176Gly)
gnomAD v4
2g.168996687G=CA1306236829ABCB11c.425C= (p.Ala142=)
c.467C= (p.Ala156=)
c.527C= (p.Ala176=)
2g.168996687G>TCA349132728ABCB11c.425C>A (p.Ala142Asp)
c.467C>A (p.Ala156Asp)
c.527C>A (p.Ala176Asp)
gnomAD v4
2g.168996688C>ACA349132730ABCB11c.424G>T (p.Ala142Ser)
c.466G>T (p.Ala156Ser)
c.526G>T (p.Ala176Ser)
gnomAD v4
2g.168996688C>GCA349132732ABCB11c.424G>C (p.Ala142Pro)
c.466G>C (p.Ala156Pro)
c.526G>C (p.Ala176Pro)
2g.168996688C>TCA349132734ABCB11c.424G>A (p.Ala142Thr)
c.466G>A (p.Ala156Thr)
c.526G>A (p.Ala176Thr)
gnomAD v4
2g.168996689A>CCA349132735ABCB11c.423T>G (p.Phe141Leu)
c.465T>G (p.Phe155Leu)
c.525T>G (p.Phe175Leu)
2g.168996689A>GCA429917573ABCB11c.423T>C (p.Phe141=)
c.465T>C (p.Phe155=)
c.525T>C (p.Phe175=)
gnomAD v4
2g.168996689A>TCA349132737ABCB11c.423T>A (p.Phe141Leu)
c.465T>A (p.Phe155Leu)
c.525T>A (p.Phe175Leu)
2g.168996691delCA2661808350ABCB11c.423del (p.Phe141LeufsTer?)
c.465del (p.Phe155LeufsTer?)
c.525del (p.Phe175LeufsTer?)
gnomAD v4
2g.168996690A>CCA349132739ABCB11c.422T>G (p.Phe141Cys)
c.464T>G (p.Phe155Cys)
c.524T>G (p.Phe175Cys)
2g.168996690A>GCA349132740ABCB11c.422T>C (p.Phe141Ser)
c.464T>C (p.Phe155Ser)
c.524T>C (p.Phe175Ser)
2g.168996690A>TCA349132743ABCB11c.422T>A (p.Phe141Tyr)
c.464T>A (p.Phe155Tyr)
c.524T>A (p.Phe175Tyr)
2g.168996691A>CCA349132745ABCB11c.421T>G (p.Phe141Val)
c.463T>G (p.Phe155Val)
c.523T>G (p.Phe175Val)
2g.168996691A>GCA349132746ABCB11c.421T>C (p.Phe141Leu)
c.463T>C (p.Phe155Leu)
c.523T>C (p.Phe175Leu)
gnomAD v4
2g.168996691A>TCA349132749ABCB11c.421T>A (p.Phe141Ile)
c.463T>A (p.Phe155Ile)
c.523T>A (p.Phe175Ile)
2g.168996692T>ACA349132751ABCB11c.420A>T (p.Lys140Asn)
c.462A>T (p.Lys154Asn)
c.522A>T (p.Lys174Asn)
2g.168996692T>CCA429917575ABCB11c.420A>G (p.Lys140=)
c.462A>G (p.Lys154=)
c.522A>G (p.Lys174=)
ClinVar dbSNP gnomAD v4
2g.168996692T>GCA349132753ABCB11c.420A>C (p.Lys140Asn)
c.462A>C (p.Lys154Asn)
c.522A>C (p.Lys174Asn)
2g.168996693T>ACA349132755ABCB11c.419A>T (p.Lys140Ile)
c.461A>T (p.Lys154Ile)
c.521A>T (p.Lys174Ile)
gnomAD v4
2g.168996693T>CCA349132756ABCB11c.419A>G (p.Lys140Arg)
c.461A>G (p.Lys154Arg)
c.521A>G (p.Lys174Arg)
2g.168996693T>GCA349132758ABCB11c.419A>C (p.Lys140Thr)
c.461A>C (p.Lys154Thr)
c.521A>C (p.Lys174Thr)
2g.168996694T>ACA349132763ABCB11c.418A>T (p.Lys140Ter)
c.460A>T (p.Lys154Ter)
c.520A>T (p.Lys174Ter)
2g.168996694T>CCA349132761ABCB11c.418A>G (p.Lys140Glu)
c.460A>G (p.Lys154Glu)
c.520A>G (p.Lys174Glu)
gnomAD v4
2g.168996694T>GCA349132760ABCB11c.418A>C (p.Lys140Gln)
c.460A>C (p.Lys154Gln)
c.520A>C (p.Lys174Gln)
2g.168996695G>ACA429917577ABCB11c.417C>T (p.Ile139=)
c.459C>T (p.Ile153=)
c.519C>T (p.Ile173=)
gnomAD v4
2g.168996695G>CCA349132767ABCB11c.417C>G (p.Ile139Met)
c.459C>G (p.Ile153Met)
c.519C>G (p.Ile173Met)
2g.168996695G=CA1306236833ABCB11c.417C= (p.Ile139=)
c.459C= (p.Ile153=)
c.519C= (p.Ile173=)
2g.168996695G>TCA429917578ABCB11c.417C>A (p.Ile139=)
c.459C>A (p.Ile153=)
c.519C>A (p.Ile173=)
ClinVar dbSNP gnomAD v4
2g.168996696A=CA1306236836ABCB11c.416T= (p.Ile139=)
c.458T= (p.Ile153=)
c.518T= (p.Ile173=)
2g.168996696A>CCA349132769ABCB11c.416T>G (p.Ile139Ser)
c.458T>G (p.Ile153Ser)
c.518T>G (p.Ile173Ser)
2g.168996696A>GCA1951892ABCB11c.416T>C (p.Ile139Thr)
c.458T>C (p.Ile153Thr)
c.518T>C (p.Ile173Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.168996696A>TCA349132774ABCB11c.416T>A (p.Ile139Asn)
c.458T>A (p.Ile153Asn)
c.518T>A (p.Ile173Asn)
2g.168996697T>ACA349132777ABCB11c.415A>T (p.Ile139Phe)
c.457A>T (p.Ile153Phe)
c.517A>T (p.Ile173Phe)
2g.168996697T>CCA59898880ABCB11c.415A>G (p.Ile139Val)
c.457A>G (p.Ile153Val)
c.517A>G (p.Ile173Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168996697T>GCA349132781ABCB11c.415A>C (p.Ile139Leu)
c.457A>C (p.Ile153Leu)
c.517A>C (p.Ile173Leu)
2g.168996697T=CA1306236838ABCB11c.415A= (p.Ile139=)
c.457A= (p.Ile153=)
c.517A= (p.Ile173=)
2g.168996698C>ACA349132784ABCB11c.414G>T (p.Met138Ile)
c.456G>T (p.Met152Ile)
c.516G>T (p.Met172Ile)
gnomAD v4
2g.168996698C>GCA349132787ABCB11c.414G>C (p.Met138Ile)
c.456G>C (p.Met152Ile)
c.516G>C (p.Met172Ile)
2g.168996698C>TCA349132790ABCB11c.414G>A (p.Met138Ile)
c.456G>A (p.Met152Ile)
c.516G>A (p.Met172Ile)
gnomAD v4
2g.168996699A>CCA349132793ABCB11c.413T>G (p.Met138Arg)
c.455T>G (p.Met152Arg)
c.515T>G (p.Met172Arg)
2g.168996699A>GCA349132796ABCB11c.413T>C (p.Met138Thr)
c.455T>C (p.Met152Thr)
c.515T>C (p.Met172Thr)
gnomAD v4
2g.168996699A>TCA349132799ABCB11c.413T>A (p.Met138Lys)
c.455T>A (p.Met152Lys)
c.515T>A (p.Met172Lys)
2g.168996700T>ACA349132809ABCB11c.412A>T (p.Met138Leu)
c.454A>T (p.Met152Leu)
c.514A>T (p.Met172Leu)
2g.168996700T>CCA349132806ABCB11c.412A>G (p.Met138Val)
c.454A>G (p.Met152Val)
c.514A>G (p.Met172Val)
gnomAD v4
2g.168996700T>GCA349132803ABCB11c.412A>C (p.Met138Leu)
c.454A>C (p.Met152Leu)
c.514A>C (p.Met172Leu)
2g.168996701T>ACA349132811ABCB11c.411A>T (p.Glu137Asp)
c.453A>T (p.Glu151Asp)
c.513A>T (p.Glu171Asp)
2g.168996701T>CCA429917585ABCB11c.411A>G (p.Glu137=)
c.453A>G (p.Glu151=)
c.513A>G (p.Glu171=)
gnomAD v4
2g.168996701T>GCA349132814ABCB11c.411A>C (p.Glu137Asp)
c.453A>C (p.Glu151Asp)
c.513A>C (p.Glu171Asp)
2g.168996702T>ACA349132817ABCB11c.410A>T (p.Glu137Val)
c.452A>T (p.Glu151Val)
c.512A>T (p.Glu171Val)
2g.168996702T>CCA349132819ABCB11c.410A>G (p.Glu137Gly)
c.452A>G (p.Glu151Gly)
c.512A>G (p.Glu171Gly)
gnomAD v4
2g.168996702T>GCA349132822ABCB11c.410A>C (p.Glu137Ala)
c.452A>C (p.Glu151Ala)
c.512A>C (p.Glu171Ala)
dbSNP
2g.168996702T=CA1306236840ABCB11c.410A= (p.Glu137=)
c.452A= (p.Glu151=)
c.512A= (p.Glu171=)
2g.168996703C>ACA349132826ABCB11c.409G>T (p.Glu137Ter)
c.451G>T (p.Glu151Ter)
c.511G>T (p.Glu171Ter)
ClinVar dbSNP gnomAD v4
2g.168996703C=CA1306236846ABCB11c.409G= (p.Glu137=)
c.451G= (p.Glu151=)
c.511G= (p.Glu171=)
2g.168996703C>GCA349132828ABCB11c.409G>C (p.Glu137Gln)
c.451G>C (p.Glu151Gln)
c.511G>C (p.Glu171Gln)
gnomAD v4
2g.168996703C>TCA59898882ABCB11c.409G>A (p.Glu137Lys)
c.451G>A (p.Glu151Lys)
c.511G>A (p.Glu171Lys)
ClinVar dbSNP gnomAD v4
2g.168996704G>ACA1951893ABCB11c.408C>T (p.Ser136=)
c.450C>T (p.Ser150=)
c.510C>T (p.Ser170=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168996704G>CCA349132835ABCB11c.408C>G (p.Ser136Arg)
c.450C>G (p.Ser150Arg)
c.510C>G (p.Ser170Arg)
2g.168996704G=CA1306236853ABCB11c.408C= (p.Ser136=)
c.450C= (p.Ser150=)
c.510C= (p.Ser170=)
2g.168996704G>TCA349132838ABCB11c.408C>A (p.Ser136Arg)
c.450C>A (p.Ser150Arg)
c.510C>A (p.Ser170Arg)
gnomAD v4 COSMIC COSMIC
2g.168996705C>ACA349132843ABCB11c.407G>T (p.Ser136Ile)
c.449G>T (p.Ser150Ile)
c.509G>T (p.Ser170Ile)
gnomAD v4
2g.168996705C>GCA349132845ABCB11c.407G>C (p.Ser136Thr)
c.449G>C (p.Ser150Thr)
c.509G>C (p.Ser170Thr)
2g.168996705C>TCA349132846ABCB11c.407G>A (p.Ser136Asn)
c.449G>A (p.Ser150Asn)
c.509G>A (p.Ser170Asn)
gnomAD v4
2g.168996706T>ACA349132854ABCB11c.406A>T (p.Ser136Cys)
c.448A>T (p.Ser150Cys)
c.508A>T (p.Ser170Cys)
2g.168996706T>CCA349132856ABCB11c.406A>G (p.Ser136Gly)
c.448A>G (p.Ser150Gly)
c.508A>G (p.Ser170Gly)
gnomAD v4
2g.168996706T>GCA349132851ABCB11c.406A>C (p.Ser136Arg)
c.448A>C (p.Ser150Arg)
c.508A>C (p.Ser170Arg)
2g.168996707C>ACA349132860ABCB11c.405G>T (p.Glu135Asp)
c.447G>T (p.Glu149Asp)
c.507G>T (p.Glu169Asp)
dbSNP gnomAD v3 gnomAD v4
2g.168996707C>GCA349132862ABCB11c.405G>C (p.Glu135Asp)
c.447G>C (p.Glu149Asp)
c.507G>C (p.Glu169Asp)
2g.168996707C>TCA429917592ABCB11c.405G>A (p.Glu135=)
c.447G>A (p.Glu149=)
c.507G>A (p.Glu169=)
gnomAD v4
2g.168996708T>ACA349132865ABCB11c.404A>T (p.Glu135Val)
c.446A>T (p.Glu149Val)
c.506A>T (p.Glu169Val)
2g.168996708T>CCA349132867ABCB11c.404A>G (p.Glu135Gly)
c.446A>G (p.Glu149Gly)
c.506A>G (p.Glu169Gly)
dbSNP gnomAD v4
2g.168996708T>GCA349132870ABCB11c.404A>C (p.Glu135Ala)
c.446A>C (p.Glu149Ala)
c.506A>C (p.Glu169Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.168996708T=CA1306236863ABCB11c.404A= (p.Glu135=)
c.446A= (p.Glu149=)
c.506A= (p.Glu169=)
2g.168996709C>ACA349132873ABCB11c.403G>T (p.Glu135Ter)
c.445G>T (p.Glu149Ter)
c.505G>T (p.Glu169Ter)
gnomAD v4 COSMIC COSMIC
2g.168996709C=CA1306236869ABCB11c.403G= (p.Glu135=)
c.445G= (p.Glu149=)
c.505G= (p.Glu169=)
2g.168996709C>GCA349132875ABCB11c.403G>C (p.Glu135Gln)
c.445G>C (p.Glu149Gln)
c.505G>C (p.Glu169Gln)
dbSNP gnomAD v2 gnomAD v4
2g.168996709C>TCA1951894ABCB11c.403G>A (p.Glu135Lys)
c.445G>A (p.Glu149Lys)
c.505G>A (p.Glu169Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168996710G>ACA1951895ABCB11c.402C>T (p.Ile134=)
c.444C>T (p.Ile148=)
c.504C>T (p.Ile168=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168996710G>CCA349132881ABCB11c.402C>G (p.Ile134Met)
c.444C>G (p.Ile148Met)
c.504C>G (p.Ile168Met)
gnomAD v4
2g.168996710G=CA1306236876ABCB11c.402C= (p.Ile134=)
c.444C= (p.Ile148=)
c.504C= (p.Ile168=)
2g.168996710G>TCA429917593ABCB11c.402C>A (p.Ile134=)
c.444C>A (p.Ile148=)
c.504C>A (p.Ile168=)
gnomAD v4
2g.168996711A>CCA349132884ABCB11c.401T>G (p.Ile134Ser)
c.443T>G (p.Ile148Ser)
c.503T>G (p.Ile168Ser)
2g.168996711A>GCA349132890ABCB11c.401T>C (p.Ile134Thr)
c.443T>C (p.Ile148Thr)
c.503T>C (p.Ile168Thr)
gnomAD v4
2g.168996711A>TCA349132892ABCB11c.401T>A (p.Ile134Asn)
c.443T>A (p.Ile148Asn)
c.503T>A (p.Ile168Asn)
gnomAD v4
2g.168996712T>ACA349132897ABCB11c.400A>T (p.Ile134Phe)
c.442A>T (p.Ile148Phe)
c.502A>T (p.Ile168Phe)
dbSNP
2g.168996712T>CCA349132894ABCB11c.400A>G (p.Ile134Val)
c.442A>G (p.Ile148Val)
c.502A>G (p.Ile168Val)
2g.168996712T>GCA349132895ABCB11c.400A>C (p.Ile134Leu)
c.442A>C (p.Ile148Leu)
c.502A>C (p.Ile168Leu)
2g.168996712T=CA1306236880ABCB11c.400A= (p.Ile134=)
c.442A= (p.Ile148=)
c.502A= (p.Ile168=)
2g.168996713G>ACA1951896ABCB11c.399C>T (p.Asn133=)
c.441C>T (p.Asn147=)
c.501C>T (p.Asn167=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168996713G>CCA349132902ABCB11c.399C>G (p.Asn133Lys)
c.441C>G (p.Asn147Lys)
c.501C>G (p.Asn167Lys)
2g.168996713G=CA1306236885ABCB11c.399C= (p.Asn133=)
c.441C= (p.Asn147=)
c.501C= (p.Asn167=)
2g.168996713G>TCA349132905ABCB11c.399C>A (p.Asn133Lys)
c.441C>A (p.Asn147Lys)
c.501C>A (p.Asn167Lys)
gnomAD v4 COSMIC COSMIC
2g.168996714T>ACA349132907ABCB11c.398A>T (p.Asn133Ile)
c.440A>T (p.Asn147Ile)
c.500A>T (p.Asn167Ile)
gnomAD v4
2g.168996714T>CCA349132910ABCB11c.398A>G (p.Asn133Ser)
c.440A>G (p.Asn147Ser)
c.500A>G (p.Asn167Ser)
dbSNP gnomAD v2 gnomAD v4
2g.168996714T>GCA349132913ABCB11c.398A>C (p.Asn133Thr)
c.440A>C (p.Asn147Thr)
c.500A>C (p.Asn167Thr)
2g.168996714T=CA1306236890ABCB11c.398A= (p.Asn133=)
c.440A= (p.Asn147=)
c.500A= (p.Asn167=)
2g.168996715delCA2661808351ABCB11c.398del (p.Asn133ThrfsTer6)
c.440del (p.Asn147ThrfsTer6)
c.500del (p.Asn167ThrfsTer6)
gnomAD v4
2g.168996715T>ACA349132916ABCB11c.397A>T (p.Asn133Tyr)
c.439A>T (p.Asn147Tyr)
c.499A>T (p.Asn167Tyr)
2g.168996715T>CCA349132917ABCB11c.397A>G (p.Asn133Asp)
c.439A>G (p.Asn147Asp)
c.499A>G (p.Asn167Asp)
gnomAD v4
2g.168996715T>GCA349132919ABCB11c.397A>C (p.Asn133His)
c.439A>C (p.Asn147His)
c.499A>C (p.Asn167His)
2g.168996753_168996754insTTGAAGGTTGCTGAACATCGAGAGCGAAATGATCAGCAACCTTCAAAAGAGGGAAAAGAATGTTCAGACTTCA1039043592ABCB11c.397_398insTCATTTCGCTCTCGATGTTCAGCAACCTTCAAAAGTCTGAACATTCTTTTCCCTCTTTTGAAGGTTGCTGA
c.439_440insTCATTTCGCTCTCGATGTTCAGCAACCTTCAAAAGTCTGAACATTCTTTTCCCTCTTTTGAAGGTTGCTGA
c.499_500insTCATTTCGCTCTCGATGTTCAGCAACCTTCAAAAGTCTGAACATTCTTTTCCCTCTTTTGAAGGTTGCTGA
2g.168996716C>ACA429917594ABCB11c.396G>T (p.Leu132=)
c.438G>T (p.Leu146=)
c.498G>T (p.Leu166=)
ClinVar dbSNP gnomAD v4
2g.168996716C>GCA429917595ABCB11c.396G>C (p.Leu132=)
c.438G>C (p.Leu146=)
c.498G>C (p.Leu166=)
2g.168996716C>TCA429917596ABCB11c.396G>A (p.Leu132=)
c.438G>A (p.Leu146=)
c.498G>A (p.Leu166=)
gnomAD v4
2g.168996717A>CCA349132922ABCB11c.395T>G (p.Leu132Arg)
c.437T>G (p.Leu146Arg)
c.497T>G (p.Leu166Arg)
2g.168996717A>GCA349132924ABCB11c.395T>C (p.Leu132Pro)
c.437T>C (p.Leu146Pro)
c.497T>C (p.Leu166Pro)
gnomAD v4
2g.168996717A>TCA349132925ABCB11c.395T>A (p.Leu132Gln)
c.437T>A (p.Leu146Gln)
c.497T>A (p.Leu166Gln)
gnomAD v4
2g.168996718G>ACA429917597ABCB11c.394C>T (p.Leu132=)
c.436C>T (p.Leu146=)
c.496C>T (p.Leu166=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.168996718G>CCA349132930ABCB11c.394C>G (p.Leu132Val)
c.436C>G (p.Leu146Val)
c.496C>G (p.Leu166Val)
2g.168996718G=CA1306236893ABCB11c.394C= (p.Leu132=)
c.436C= (p.Leu146=)
c.496C= (p.Leu166=)
2g.168996718G>TCA349132929ABCB11c.394C>A (p.Leu132Met)
c.436C>A (p.Leu146Met)
c.496C>A (p.Leu166Met)
gnomAD v4
2g.168996719C>ACA349132934ABCB11c.393G>T (p.Leu131Phe)
c.435G>T (p.Leu145Phe)
c.495G>T (p.Leu165Phe)
gnomAD v4
2g.168996719C=CA1306236897ABCB11c.393G= (p.Leu131=)
c.435G= (p.Leu145=)
c.495G= (p.Leu165=)
2g.168996719C>GCA349132938ABCB11c.393G>C (p.Leu131Phe)
c.435G>C (p.Leu145Phe)
c.495G>C (p.Leu165Phe)
2g.168996719C>TCA1951897ABCB11c.393G>A (p.Leu131=)
c.435G>A (p.Leu145=)
c.495G>A (p.Leu165=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.168996720A>CCA349132940ABCB11c.392T>G (p.Leu131Trp)
c.434T>G (p.Leu145Trp)
c.494T>G (p.Leu165Trp)
2g.168996720A>GCA349132944ABCB11c.392T>C (p.Leu131Ser)
c.434T>C (p.Leu145Ser)
c.494T>C (p.Leu165Ser)
gnomAD v4
2g.168996720A>TCA349132943ABCB11c.392T>A (p.Leu131Ter)
c.434T>A (p.Leu145Ter)
c.494T>A (p.Leu165Ter)
ClinVar
2g.168996721A>CCA349132947ABCB11c.391T>G (p.Leu131Val)
c.433T>G (p.Leu145Val)
c.493T>G (p.Leu165Val)
2g.168996721A>GCA429917598ABCB11c.391T>C (p.Leu131=)
c.433T>C (p.Leu145=)
c.493T>C (p.Leu165=)
ClinVar gnomAD v4 COSMIC COSMIC
2g.168996721A>TCA349132950ABCB11c.391T>A (p.Leu131Met)
c.433T>A (p.Leu145Met)
c.493T>A (p.Leu165Met)
2g.168996721_168996722delinsACCA1306236899ABCB11c.390_391delinsGT (p.Gly130=)
c.432_433delinsGT (p.Gly144=)
c.492_493delinsGT (p.Gly164=)
2g.168996722C>ACA429917599ABCB11c.390G>T (p.Gly130=)
c.432G>T (p.Gly144=)
c.492G>T (p.Gly164=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.168996722C=CA1306236901ABCB11c.390G= (p.Gly130=)
c.432G= (p.Gly144=)
c.492G= (p.Gly164=)
2g.168996722C>GCA429917601ABCB11c.390G>C (p.Gly130=)
c.432G>C (p.Gly144=)
c.492G>C (p.Gly164=)
2g.168996722C>TCA429917600ABCB11c.390G>A (p.Gly130=)
c.432G>A (p.Gly144=)
c.492G>A (p.Gly164=)
gnomAD v4
2g.168996723dupCA59898904ABCB11c.390dup
c.432dup
c.492dup
dbSNP
2g.168996723delCA59898903ABCB11c.390del
c.432del
c.492del
dbSNP
2g.168996723C>ACA349132952ABCB11c.390-1G>T (n.390-1G>T)
c.432-1G>T (n.432-1G>T)
c.492-1G>T (n.492-1G>T)
ClinVar dbSNP gnomAD v4
2g.168996723C=CA1306236905ABCB11c.390-1G= (n.390-1G=)
c.432-1G= (n.432-1G=)
c.492-1G= (n.492-1G=)
2g.168996723C>GCA349132957ABCB11c.390-1G>C (n.390-1G>C)
c.432-1G>C (n.432-1G>C)
c.492-1G>C (n.492-1G>C)
2g.168996723C>TCA349132954ABCB11c.390-1G>A (n.390-1G>A)
c.432-1G>A (n.432-1G>A)
c.492-1G>A (n.492-1G>A)
gnomAD v4
2g.168996724T>ACA349132961ABCB11c.390-2A>T (n.390-2A>T)
c.432-2A>T (n.432-2A>T)
c.492-2A>T (n.492-2A>T)
gnomAD v4
2g.168996724T>CCA349132964ABCB11c.390-2A>G (n.390-2A>G)
c.432-2A>G (n.432-2A>G)
c.492-2A>G (n.492-2A>G)
dbSNP gnomAD v4
2g.168996724T>GCA349132962ABCB11c.390-2A>C (n.390-2A>C)
c.432-2A>C (n.432-2A>C)
c.492-2A>C (n.492-2A>C)
gnomAD v4 COSMIC COSMIC
2g.168996724T=CA1306236911ABCB11c.390-2A= (n.390-2A=)
c.432-2A= (n.432-2A=)
c.492-2A= (n.492-2A=)
2g.168996725delCA2661808352ABCB11c.390-2del (n.390-2del)
c.432-2del (n.432-2del)
c.492-2del (n.492-2del)
gnomAD v4
2g.168996725T>CCA2661808353ABCB11c.390-3A>G (n.390-3A>G)
c.432-3A>G (n.432-3A>G)
c.492-3A>G (n.492-3A>G)
gnomAD v4
2g.168996726C>ACA2661808354ABCB11c.390-4G>T (n.390-4G>T)
c.432-4G>T (n.432-4G>T)
c.492-4G>T (n.492-4G>T)
gnomAD v4
2g.168996727A=CA1306236914ABCB11c.390-5T= (n.390-5T=)
c.432-5T= (n.432-5T=)
c.492-5T= (n.492-5T=)
2g.168996727A>GCA760451347ABCB11c.390-5T>C (n.390-5T>C)
c.432-5T>C (n.432-5T>C)
c.492-5T>C (n.492-5T>C)
dbSNP gnomAD v4
2g.168996730delCA2661808355ABCB11c.390-5del (n.390-5del)
c.432-5del (n.432-5del)
c.492-5del (n.492-5del)
gnomAD v4
2g.168996729_168996730delCA2697551286ABCB11c.390-6_390-5del (n.390-6_390-5del)
c.432-6_432-5del (n.432-6_432-5del)
c.492-6_492-5del (n.492-6_492-5del)
ClinVar

Number of alleles fetched