Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.168996626G>A | CA1306236733 | ABCB11 | c.477+9C>T (n.477+9C>T) c.519+9C>T (n.519+9C>T) c.579+9C>T (n.579+9C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.168996626G>C | CA1951882 | ABCB11 | c.477+9C>G (n.477+9C>G) c.519+9C>G (n.519+9C>G) c.579+9C>G (n.579+9C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.168996626G= | CA1306236731 | ABCB11 | c.477+9C= (n.477+9C=) c.519+9C= (n.519+9C=) c.579+9C= (n.579+9C=) | |
2 | g.168996626G>T | CA2661808337 | ABCB11 | c.477+9C>A (n.477+9C>A) c.519+9C>A (n.519+9C>A) c.579+9C>A (n.579+9C>A) | gnomAD v4 |
2 | g.168996627del | CA2661808338 | ABCB11 | c.477+8del (n.477+8del) c.519+8del (n.519+8del) c.579+8del (n.579+8del) | gnomAD v4 |
2 | g.168996627C>A | CA1951883 | ABCB11 | c.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 |
2 | g.168996627C= | CA1306236736 | ABCB11 | c.477+8G= (n.477+8G=) c.519+8G= (n.519+8G=) c.579+8G= (n.579+8G=) | |
2 | g.168996627C>G | CA2697551285 | ABCB11 | c.477+8G>C (n.477+8G>C) c.519+8G>C (n.519+8G>C) c.579+8G>C (n.579+8G>C) | ClinVar |
2 | g.168996627C>T | CA2661808340 | ABCB11 | c.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 |
2 | g.168996630_168996632del | CA2661808339 | ABCB11 | c.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 |
2 | g.168996628T>A | CA537528962 | ABCB11 | c.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 |
2 | g.168996628T>C | CA1306236741 | ABCB11 | c.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 |
2 | g.168996628T= | CA1306236739 | ABCB11 | c.477+7A= (n.477+7A=) c.519+7A= (n.519+7A=) c.579+7A= (n.579+7A=) | |
2 | g.168996629del | CA2661808342 | ABCB11 | c.477+6del (n.477+6del) c.519+6del (n.519+6del) c.579+6del (n.579+6del) | gnomAD v4 |
2 | g.168996629A>C | CA2753095917 | ABCB11 | c.477+6T>G (n.477+6T>G) c.519+6T>G (n.519+6T>G) c.579+6T>G (n.579+6T>G) | |
2 | g.168996629A>G | CA2661808341 | ABCB11 | c.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 |
2 | g.168996629A>T | CA2586970422 | ABCB11 | c.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 |
2 | g.168996630C>A | CA2661808343 | ABCB11 | c.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 |
2 | g.168996630C= | CA1306236742 | ABCB11 | c.477+5G= (n.477+5G=) c.519+5G= (n.519+5G=) c.579+5G= (n.579+5G=) | |
2 | g.168996630C>G | CA913189525 | ABCB11 | c.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 |
2 | g.168996630C>T | CA2661808344 | ABCB11 | c.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 |
2 | g.168996631T>C | CA2661808345 | ABCB11 | c.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 |
2 | g.168996632A>G | CA2577148359 | ABCB11 | c.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 |
2 | g.168996633del | CA2661808346 | ABCB11 | c.477+3del (n.477+3del) c.519+3del (n.519+3del) c.579+3del (n.579+3del) | gnomAD v4 |
2 | g.168996633A>C | CA349132478 | ABCB11 | c.477+2T>G (n.477+2T>G) c.519+2T>G (n.519+2T>G) c.579+2T>G (n.579+2T>G) | |
2 | g.168996633A>G | CA349132482 | ABCB11 | c.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 |
2 | g.168996633A>T | CA349132485 | ABCB11 | c.477+2T>A (n.477+2T>A) c.519+2T>A (n.519+2T>A) c.579+2T>A (n.579+2T>A) | |
2 | g.168996634C>A | CA349132488 | ABCB11 | c.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 |
2 | g.168996634C= | CA1306236749 | ABCB11 | c.477+1G= (n.477+1G=) c.519+1G= (n.519+1G=) c.579+1G= (n.579+1G=) | |
2 | g.168996634C>G | CA349132491 | ABCB11 | c.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 |
2 | g.168996634C>T | CA349132493 | ABCB11 | c.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 |
2 | g.168996635T>A | CA349132496 | ABCB11 | c.477A>T (p.Gln159His) c.519A>T (p.Gln173His) c.579A>T (p.Gln193His) | gnomAD v4 |
2 | g.168996635T>C | CA1951884 | ABCB11 | c.477A>G (p.Gln159=) c.519A>G (p.Gln173=) c.579A>G (p.Gln193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168996635T>G | CA349132499 | ABCB11 | c.477A>C (p.Gln159His) c.519A>C (p.Gln173His) c.579A>C (p.Gln193His) | |
2 | g.168996635T= | CA1306236755 | ABCB11 | c.477A= (p.Gln159=) c.519A= (p.Gln173=) c.579A= (p.Gln193=) | |
2 | g.168996636T>A | CA349132508 | ABCB11 | c.476A>T (p.Gln159Leu) c.518A>T (p.Gln173Leu) c.578A>T (p.Gln193Leu) | |
2 | g.168996636T>C | CA349132510 | ABCB11 | c.476A>G (p.Gln159Arg) c.518A>G (p.Gln173Arg) c.578A>G (p.Gln193Arg) | gnomAD v4 |
2 | g.168996636T>G | CA349132514 | ABCB11 | c.476A>C (p.Gln159Pro) c.518A>C (p.Gln173Pro) c.578A>C (p.Gln193Pro) | |
2 | g.168996637del | CA2661808347 | ABCB11 | c.475del (p.Gln159LysfsTer16) c.517del (p.Gln173LysfsTer16) c.577del (p.Gln193LysfsTer16) | gnomAD v4 |
2 | g.168996637G>A | CA349132518 | ABCB11 | c.475C>T (p.Gln159Ter) c.517C>T (p.Gln173Ter) c.577C>T (p.Gln193Ter) | gnomAD v4 |
2 | g.168996637G>C | CA349132522 | ABCB11 | c.475C>G (p.Gln159Glu) c.517C>G (p.Gln173Glu) c.577C>G (p.Gln193Glu) | |
2 | g.168996637G>T | CA349132525 | ABCB11 | c.475C>A (p.Gln159Lys) c.517C>A (p.Gln173Lys) c.577C>A (p.Gln193Lys) | gnomAD v4 |
2 | g.168996638A>C | CA349132531 | ABCB11 | c.474T>G (p.Ile158Met) c.516T>G (p.Ile172Met) c.576T>G (p.Ile192Met) | |
2 | g.168996638A>G | CA429917512 | ABCB11 | c.474T>C (p.Ile158=) c.516T>C (p.Ile172=) c.576T>C (p.Ile192=) | gnomAD v4 |
2 | g.168996638A>T | CA429917513 | ABCB11 | c.474T>A (p.Ile158=) c.516T>A (p.Ile172=) c.576T>A (p.Ile192=) | |
2 | g.168996639A= | CA1306236761 | ABCB11 | c.473T= (p.Ile158=) c.515T= (p.Ile172=) c.575T= (p.Ile192=) | |
2 | g.168996639A>C | CA349132534 | ABCB11 | c.473T>G (p.Ile158Ser) c.515T>G (p.Ile172Ser) c.575T>G (p.Ile192Ser) | |
2 | g.168996639A>G | CA59898834 | ABCB11 | c.473T>C (p.Ile158Thr) c.515T>C (p.Ile172Thr) c.575T>C (p.Ile192Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168996639A>T | CA349132538 | ABCB11 | c.473T>A (p.Ile158Asn) c.515T>A (p.Ile172Asn) c.575T>A (p.Ile192Asn) | gnomAD v4 |
2 | g.168996640T>A | CA349132545 | ABCB11 | c.472A>T (p.Ile158Phe) c.514A>T (p.Ile172Phe) c.574A>T (p.Ile192Phe) | |
2 | g.168996640T>C | CA349132542 | ABCB11 | c.472A>G (p.Ile158Val) c.514A>G (p.Ile172Val) c.574A>G (p.Ile192Val) | gnomAD v4 |
2 | g.168996640T>G | CA349132540 | ABCB11 | c.472A>C (p.Ile158Leu) c.514A>C (p.Ile172Leu) c.574A>C (p.Ile192Leu) | |
2 | g.168996641A>C | CA349132546 | ABCB11 | c.471T>G (p.Tyr157Ter) c.513T>G (p.Tyr171Ter) c.573T>G (p.Tyr191Ter) | |
2 | g.168996641A>G | CA429917517 | ABCB11 | c.471T>C (p.Tyr157=) c.513T>C (p.Tyr171=) c.573T>C (p.Tyr191=) | ClinVar gnomAD v4 |
2 | g.168996641A>T | CA349132549 | ABCB11 | c.471T>A (p.Tyr157Ter) c.513T>A (p.Tyr171Ter) c.573T>A (p.Tyr191Ter) | |
2 | g.168996642T>A | CA349132551 | ABCB11 | c.470A>T (p.Tyr157Phe) c.512A>T (p.Tyr171Phe) c.572A>T (p.Tyr191Phe) | |
2 | g.168996642T>C | CA349132553 | ABCB11 | c.470A>G (p.Tyr157Cys) c.512A>G (p.Tyr171Cys) c.572A>G (p.Tyr191Cys) | gnomAD v4 |
2 | g.168996642T>G | CA349132555 | ABCB11 | c.470A>C (p.Tyr157Ser) c.512A>C (p.Tyr171Ser) c.572A>C (p.Tyr191Ser) | |
2 | g.168996643A>C | CA349132557 | ABCB11 | c.469T>G (p.Tyr157Asp) c.511T>G (p.Tyr171Asp) c.571T>G (p.Tyr191Asp) | |
2 | g.168996643A>G | CA349132560 | ABCB11 | c.469T>C (p.Tyr157His) c.511T>C (p.Tyr171His) c.571T>C (p.Tyr191His) | gnomAD v4 |
2 | g.168996643A>T | CA349132563 | ABCB11 | c.469T>A (p.Tyr157Asn) c.511T>A (p.Tyr171Asn) c.571T>A (p.Tyr191Asn) | |
2 | g.168996644T>A | CA429917519 | ABCB11 | c.468A>T (p.Gly156=) c.510A>T (p.Gly170=) c.570A>T (p.Gly190=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.168996644T>C | CA1951885 | ABCB11 | c.468A>G (p.Gly156=) c.510A>G (p.Gly170=) c.570A>G (p.Gly190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168996644T>G | CA429917520 | ABCB11 | c.468A>C (p.Gly156=) c.510A>C (p.Gly170=) c.570A>C (p.Gly190=) | |
2 | g.168996644T= | CA1306236764 | ABCB11 | c.468A= (p.Gly156=) c.510A= (p.Gly170=) c.570A= (p.Gly190=) | |
2 | g.168996645C>A | CA349132568 | ABCB11 | c.467G>T (p.Gly156Val) c.509G>T (p.Gly170Val) c.569G>T (p.Gly190Val) | gnomAD v4 |
2 | g.168996645C>G | CA349132570 | ABCB11 | c.467G>C (p.Gly156Ala) c.509G>C (p.Gly170Ala) c.569G>C (p.Gly190Ala) | COSMIC COSMIC |
2 | g.168996645C>T | CA349132572 | ABCB11 | c.467G>A (p.Gly156Glu) c.509G>A (p.Gly170Glu) c.569G>A (p.Gly190Glu) | gnomAD v4 |
2 | g.168996646C>A | CA349132574 | ABCB11 | c.466G>T (p.Gly156Ter) c.508G>T (p.Gly170Ter) c.568G>T (p.Gly190Ter) | gnomAD v4 |
2 | g.168996646C>G | CA349132578 | ABCB11 | c.466G>C (p.Gly156Arg) c.508G>C (p.Gly170Arg) c.568G>C (p.Gly190Arg) | |
2 | g.168996646C>T | CA349132580 | ABCB11 | c.466G>A (p.Gly156Arg) c.508G>A (p.Gly170Arg) c.568G>A (p.Gly190Arg) | gnomAD v4 |
2 | g.168996647T>A | CA429917522 | ABCB11 | c.465A>T (p.Thr155=) c.507A>T (p.Thr169=) c.567A>T (p.Thr189=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.168996647T>C | CA429917523 | ABCB11 | c.465A>G (p.Thr155=) c.507A>G (p.Thr169=) c.567A>G (p.Thr189=) | gnomAD v4 |
2 | g.168996647T>G | CA429917521 | ABCB11 | c.465A>C (p.Thr155=) c.507A>C (p.Thr169=) c.567A>C (p.Thr189=) | |
2 | g.168996647T= | CA1306236767 | ABCB11 | c.465A= (p.Thr155=) c.507A= (p.Thr169=) c.567A= (p.Thr189=) | |
2 | g.168996648G>A | CA349132582 | ABCB11 | c.464C>T (p.Thr155Ile) c.506C>T (p.Thr169Ile) c.566C>T (p.Thr189Ile) | gnomAD v3 gnomAD v4 |
2 | g.168996648G>C | CA349132584 | ABCB11 | c.464C>G (p.Thr155Arg) c.506C>G (p.Thr169Arg) c.566C>G (p.Thr189Arg) | |
2 | g.168996648G>T | CA349132583 | ABCB11 | c.464C>A (p.Thr155Lys) c.506C>A (p.Thr169Lys) c.566C>A (p.Thr189Lys) | gnomAD v4 |
2 | g.168996649T>A | CA349132586 | ABCB11 | c.463A>T (p.Thr155Ser) c.505A>T (p.Thr169Ser) c.565A>T (p.Thr189Ser) | |
2 | g.168996649T>C | CA349132587 | ABCB11 | c.463A>G (p.Thr155Ala) c.505A>G (p.Thr169Ala) c.565A>G (p.Thr189Ala) | gnomAD v4 |
2 | g.168996649T>G | CA349132589 | ABCB11 | c.463A>C (p.Thr155Pro) c.505A>C (p.Thr169Pro) c.565A>C (p.Thr189Pro) | |
2 | g.168996650G>A | CA429917528 | ABCB11 | c.462C>T (p.Ile154=) c.504C>T (p.Ile168=) c.564C>T (p.Ile188=) | gnomAD v4 |
2 | g.168996650G>C | CA349132592 | ABCB11 | c.462C>G (p.Ile154Met) c.504C>G (p.Ile168Met) c.564C>G (p.Ile188Met) | |
2 | g.168996650G>T | CA429917527 | ABCB11 | c.462C>A (p.Ile154=) c.504C>A (p.Ile168=) c.564C>A (p.Ile188=) | gnomAD v4 |
2 | g.168996651A= | CA1306236771 | ABCB11 | c.461T= (p.Ile154=) c.503T= (p.Ile168=) c.563T= (p.Ile188=) | |
2 | g.168996651A>C | CA349132593 | ABCB11 | c.461T>G (p.Ile154Ser) c.503T>G (p.Ile168Ser) c.563T>G (p.Ile188Ser) | |
2 | g.168996651A>G | CA1951886 | ABCB11 | c.461T>C (p.Ile154Thr) c.503T>C (p.Ile168Thr) c.563T>C (p.Ile188Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.168996651A>T | CA349132595 | ABCB11 | c.461T>A (p.Ile154Asn) c.503T>A (p.Ile168Asn) c.563T>A (p.Ile188Asn) | gnomAD v4 |
2 | g.168996652T>A | CA349132596 | ABCB11 | c.460A>T (p.Ile154Phe) c.502A>T (p.Ile168Phe) c.562A>T (p.Ile188Phe) | |
2 | g.168996652T>C | CA349132597 | ABCB11 | c.460A>G (p.Ile154Val) c.502A>G (p.Ile168Val) c.562A>G (p.Ile188Val) | gnomAD v4 |
2 | g.168996652T>G | CA349132598 | ABCB11 | c.460A>C (p.Ile154Leu) c.502A>C (p.Ile168Leu) c.562A>C (p.Ile188Leu) | |
2 | g.168996653A>C | CA429917532 | ABCB11 | c.459T>G (p.Leu153=) c.501T>G (p.Leu167=) c.561T>G (p.Leu187=) | gnomAD v4 |
2 | g.168996653A>G | CA429917534 | ABCB11 | c.459T>C (p.Leu153=) c.501T>C (p.Leu167=) c.561T>C (p.Leu187=) | gnomAD v4 |
2 | g.168996653A>T | CA429917533 | ABCB11 | c.459T>A (p.Leu153=) c.501T>A (p.Leu167=) c.561T>A (p.Leu187=) | |
2 | g.168996654del | CA2661808348 | ABCB11 | c.459del (p.Ile154SerfsTer21) c.501del (p.Ile168SerfsTer21) c.561del (p.Ile188SerfsTer21) | gnomAD v4 |
2 | g.168996654A>C | CA349132600 | ABCB11 | c.458T>G (p.Leu153Arg) c.500T>G (p.Leu167Arg) c.560T>G (p.Leu187Arg) | |
2 | g.168996654A>G | CA349132601 | ABCB11 | c.458T>C (p.Leu153Pro) c.500T>C (p.Leu167Pro) c.560T>C (p.Leu187Pro) | gnomAD v4 |
2 | g.168996654A>T | CA349132599 | ABCB11 | c.458T>A (p.Leu153His) c.500T>A (p.Leu167His) c.560T>A (p.Leu187His) | |
2 | g.168996655G>A | CA59898849 | ABCB11 | c.457C>T (p.Leu153Phe) c.499C>T (p.Leu167Phe) c.559C>T (p.Leu187Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.168996655G>C | CA349132602 | ABCB11 | c.457C>G (p.Leu153Val) c.499C>G (p.Leu167Val) c.559C>G (p.Leu187Val) | |
2 | g.168996655G= | CA1306236774 | ABCB11 | c.457C= (p.Leu153=) c.499C= (p.Leu167=) c.559C= (p.Leu187=) | |
2 | g.168996655G>T | CA349132604 | ABCB11 | c.457C>A (p.Leu153Ile) c.499C>A (p.Leu167Ile) c.559C>A (p.Leu187Ile) | gnomAD v4 |
2 | g.168996656T>A | CA429917535 | ABCB11 | c.456A>T (p.Val152=) c.498A>T (p.Val166=) c.558A>T (p.Val186=) | |
2 | g.168996656T>C | CA429917536 | ABCB11 | c.456A>G (p.Val152=) c.498A>G (p.Val166=) c.558A>G (p.Val186=) | gnomAD v4 |
2 | g.168996656T>G | CA429917537 | ABCB11 | c.456A>C (p.Val152=) c.498A>C (p.Val166=) c.558A>C (p.Val186=) | |
2 | g.168996657A>C | CA349132606 | ABCB11 | c.455T>G (p.Val152Gly) c.497T>G (p.Val166Gly) c.557T>G (p.Val186Gly) | |
2 | g.168996657A>G | CA349132607 | ABCB11 | c.455T>C (p.Val152Ala) c.497T>C (p.Val166Ala) c.557T>C (p.Val186Ala) | gnomAD v4 |
2 | g.168996657A>T | CA349132609 | ABCB11 | c.455T>A (p.Val152Glu) c.497T>A (p.Val166Glu) c.557T>A (p.Val186Glu) | |
2 | g.168996658C>A | CA349132611 | ABCB11 | c.454G>T (p.Val152Leu) c.496G>T (p.Val166Leu) c.556G>T (p.Val186Leu) | |
2 | g.168996658C= | CA1306236779 | ABCB11 | c.454G= (p.Val152=) c.496G= (p.Val166=) c.556G= (p.Val186=) | |
2 | g.168996658C>G | CA349132613 | ABCB11 | c.454G>C (p.Val152Leu) c.496G>C (p.Val166Leu) c.556G>C (p.Val186Leu) | gnomAD v4 |
2 | g.168996658C>T | CA1951887 | ABCB11 | c.454G>A (p.Val152Ile) c.496G>A (p.Val166Ile) c.556G>A (p.Val186Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.168996659T>A | CA429917539 | ABCB11 | c.453A>T (p.Ala151=) c.495A>T (p.Ala165=) c.555A>T (p.Ala185=) | |
2 | g.168996659T>C | CA59898856 | ABCB11 | c.453A>G (p.Ala151=) c.495A>G (p.Ala165=) c.555A>G (p.Ala185=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168996659T>G | CA429917541 | ABCB11 | c.453A>C (p.Ala151=) c.495A>C (p.Ala165=) c.555A>C (p.Ala185=) | |
2 | g.168996659T= | CA1306236781 | ABCB11 | c.453A= (p.Ala151=) c.495A= (p.Ala165=) c.555A= (p.Ala185=) | |
2 | g.168996660G>A | CA349132617 | ABCB11 | c.452C>T (p.Ala151Val) c.494C>T (p.Ala165Val) c.554C>T (p.Ala185Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168996660G>C | CA349132619 | ABCB11 | c.452C>G (p.Ala151Gly) c.494C>G (p.Ala165Gly) c.554C>G (p.Ala185Gly) | |
2 | g.168996660G= | CA1306236783 | ABCB11 | c.452C= (p.Ala151=) c.494C= (p.Ala165=) c.554C= (p.Ala185=) | |
2 | g.168996660G>T | CA349132620 | ABCB11 | c.452C>A (p.Ala151Glu) c.494C>A (p.Ala165Glu) c.554C>A (p.Ala185Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168996661C>A | CA349132624 | ABCB11 | c.451G>T (p.Ala151Ser) c.493G>T (p.Ala165Ser) c.553G>T (p.Ala185Ser) | dbSNP gnomAD v4 |
2 | g.168996661C= | CA1306236785 | ABCB11 | c.451G= (p.Ala151=) c.493G= (p.Ala165=) c.553G= (p.Ala185=) | |
2 | g.168996661C>G | CA349132623 | ABCB11 | c.451G>C (p.Ala151Pro) c.493G>C (p.Ala165Pro) c.553G>C (p.Ala185Pro) | gnomAD v4 |
2 | g.168996661C>T | CA1951888 | ABCB11 | c.451G>A (p.Ala151Thr) c.493G>A (p.Ala165Thr) c.553G>A (p.Ala185Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.168996662G>A | CA1951889 | ABCB11 | c.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 |
2 | g.168996662G>C | CA59898863 | ABCB11 | c.450C>G (p.Val150=) c.492C>G (p.Val164=) c.552C>G (p.Val184=) | dbSNP gnomAD v4 |
2 | g.168996662G= | CA1306236791 | ABCB11 | c.450C= (p.Val150=) c.492C= (p.Val164=) c.552C= (p.Val184=) | |
2 | g.168996662G>T | CA429917545 | ABCB11 | c.450C>A (p.Val150=) c.492C>A (p.Val164=) c.552C>A (p.Val184=) | gnomAD v4 |
2 | g.168996663A>C | CA349132628 | ABCB11 | c.449T>G (p.Val150Gly) c.491T>G (p.Val164Gly) c.551T>G (p.Val184Gly) | |
2 | g.168996663A>G | CA349132629 | ABCB11 | c.449T>C (p.Val150Ala) c.491T>C (p.Val164Ala) c.551T>C (p.Val184Ala) | gnomAD v4 |
2 | g.168996663A>T | CA349132631 | ABCB11 | c.449T>A (p.Val150Asp) c.491T>A (p.Val164Asp) c.551T>A (p.Val184Asp) | gnomAD v4 |
2 | g.168996664C>A | CA349132633 | ABCB11 | c.448G>T (p.Val150Phe) c.490G>T (p.Val164Phe) c.550G>T (p.Val184Phe) | gnomAD v4 |
2 | g.168996664C>G | CA349132635 | ABCB11 | c.448G>C (p.Val150Leu) c.490G>C (p.Val164Leu) c.550G>C (p.Val184Leu) | |
2 | g.168996664C>T | CA349132636 | ABCB11 | c.448G>A (p.Val150Ile) c.490G>A (p.Val164Ile) c.550G>A (p.Val184Ile) | gnomAD v4 |
2 | g.168996665A= | CA1306236794 | ABCB11 | c.447T= (p.Ala149=) c.489T= (p.Ala163=) c.549T= (p.Ala183=) | |
2 | g.168996665A>C | CA429917547 | ABCB11 | c.447T>G (p.Ala149=) c.489T>G (p.Ala163=) c.549T>G (p.Ala183=) | |
2 | g.168996665A>G | CA429917548 | ABCB11 | c.447T>C (p.Ala149=) c.489T>C (p.Ala163=) c.549T>C (p.Ala183=) | gnomAD v4 |
2 | g.168996665A>T | CA429917549 | ABCB11 | c.447T>A (p.Ala149=) c.489T>A (p.Ala163=) c.549T>A (p.Ala183=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.168996666G>A | CA349132637 | ABCB11 | c.446C>T (p.Ala149Val) c.488C>T (p.Ala163Val) c.548C>T (p.Ala183Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.168996666G>C | CA349132638 | ABCB11 | c.446C>G (p.Ala149Gly) c.488C>G (p.Ala163Gly) c.548C>G (p.Ala183Gly) | gnomAD v4 |
2 | g.168996666G= | CA1306236797 | ABCB11 | c.446C= (p.Ala149=) c.488C= (p.Ala163=) c.548C= (p.Ala183=) | |
2 | g.168996666G>T | CA349132639 | ABCB11 | c.446C>A (p.Ala149Asp) c.488C>A (p.Ala163Asp) c.548C>A (p.Ala183Asp) | gnomAD v4 |
2 | g.168996667C>A | CA349132642 | ABCB11 | c.445G>T (p.Ala149Ser) c.487G>T (p.Ala163Ser) c.547G>T (p.Ala183Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.168996667C= | CA1306236801 | ABCB11 | c.445G= (p.Ala149=) c.487G= (p.Ala163=) c.547G= (p.Ala183=) | |
2 | g.168996667C>G | CA349132644 | ABCB11 | c.445G>C (p.Ala149Pro) c.487G>C (p.Ala163Pro) c.547G>C (p.Ala183Pro) | |
2 | g.168996667C>T | CA349132645 | ABCB11 | c.445G>A (p.Ala149Thr) c.487G>A (p.Ala163Thr) c.547G>A (p.Ala183Thr) | gnomAD v3 gnomAD v4 |
2 | g.168996668A>C | CA349132647 | ABCB11 | c.444T>G (p.Ile148Met) c.486T>G (p.Ile162Met) c.546T>G (p.Ile182Met) | |
2 | g.168996668A>G | CA429917553 | ABCB11 | c.444T>C (p.Ile148=) c.486T>C (p.Ile162=) c.546T>C (p.Ile182=) | gnomAD v4 |
2 | g.168996668A>T | CA429917551 | ABCB11 | c.444T>A (p.Ile148=) c.486T>A (p.Ile162=) c.546T>A (p.Ile182=) | |
2 | g.168996669A>C | CA349132651 | ABCB11 | c.443T>G (p.Ile148Ser) c.485T>G (p.Ile162Ser) c.545T>G (p.Ile182Ser) | |
2 | g.168996669A>G | CA349132650 | ABCB11 | c.443T>C (p.Ile148Thr) c.485T>C (p.Ile162Thr) c.545T>C (p.Ile182Thr) | gnomAD v4 |
2 | g.168996669A>T | CA349132652 | ABCB11 | c.443T>A (p.Ile148Asn) c.485T>A (p.Ile162Asn) c.545T>A (p.Ile182Asn) | |
2 | g.168996670T>A | CA349132655 | ABCB11 | c.442A>T (p.Ile148Phe) c.484A>T (p.Ile162Phe) c.544A>T (p.Ile182Phe) | gnomAD v4 |
2 | g.168996670T>C | CA349132659 | ABCB11 | c.442A>G (p.Ile148Val) c.484A>G (p.Ile162Val) c.544A>G (p.Ile182Val) | gnomAD v4 |
2 | g.168996670T>G | CA349132656 | ABCB11 | c.442A>C (p.Ile148Leu) c.484A>C (p.Ile162Leu) c.544A>C (p.Ile182Leu) | |
2 | g.168996671T>A | CA429917556 | ABCB11 | c.441A>T (p.Gly147=) c.483A>T (p.Gly161=) c.543A>T (p.Gly181=) | |
2 | g.168996671T>C | CA429917557 | ABCB11 | c.441A>G (p.Gly147=) c.483A>G (p.Gly161=) c.543A>G (p.Gly181=) | gnomAD v4 |
2 | g.168996671T>G | CA429917558 | ABCB11 | c.441A>C (p.Gly147=) c.483A>C (p.Gly161=) c.543A>C (p.Gly181=) | |
2 | g.168996672C>A | CA349132661 | ABCB11 | c.440G>T (p.Gly147Val) c.482G>T (p.Gly161Val) c.542G>T (p.Gly181Val) | gnomAD v4 |
2 | g.168996672C>G | CA349132662 | ABCB11 | c.440G>C (p.Gly147Ala) c.482G>C (p.Gly161Ala) c.542G>C (p.Gly181Ala) | |
2 | g.168996672C>T | CA349132664 | ABCB11 | c.440G>A (p.Gly147Glu) c.482G>A (p.Gly161Glu) c.542G>A (p.Gly181Glu) | |
2 | g.168996673del | CA2661808349 | ABCB11 | c.440del (p.Gly147GlufsTer28) c.482del (p.Gly161GlufsTer28) c.542del (p.Gly181GlufsTer28) | gnomAD v4 |
2 | g.168996673C>A | CA349132667 | ABCB11 | c.439G>T (p.Gly147Ter) c.481G>T (p.Gly161Ter) c.541G>T (p.Gly181Ter) | gnomAD v4 |
2 | g.168996673C>G | CA349132668 | ABCB11 | c.439G>C (p.Gly147Arg) c.481G>C (p.Gly161Arg) c.541G>C (p.Gly181Arg) | |
2 | g.168996673C>T | CA349132670 | ABCB11 | c.439G>A (p.Gly147Arg) c.481G>A (p.Gly161Arg) c.541G>A (p.Gly181Arg) | gnomAD v4 |
2 | g.168996674A= | CA1306236803 | ABCB11 | c.438T= (p.Ala146=) c.480T= (p.Ala160=) c.540T= (p.Ala180=) | |
2 | g.168996674A>C | CA429917559 | ABCB11 | c.438T>G (p.Ala146=) c.480T>G (p.Ala160=) c.540T>G (p.Ala180=) | |
2 | g.168996674A>G | CA59898865 | ABCB11 | c.438T>C (p.Ala146=) c.480T>C (p.Ala160=) c.540T>C (p.Ala180=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168996674A>T | CA429917560 | ABCB11 | c.438T>A (p.Ala146=) c.480T>A (p.Ala160=) c.540T>A (p.Ala180=) | ClinVar gnomAD v4 |
2 | g.168996675G>A | CA349132672 | ABCB11 | c.437C>T (p.Ala146Val) c.479C>T (p.Ala160Val) c.539C>T (p.Ala180Val) | gnomAD v4 |
2 | g.168996675G>C | CA349132674 | ABCB11 | c.437C>G (p.Ala146Gly) c.479C>G (p.Ala160Gly) c.539C>G (p.Ala180Gly) | gnomAD v4 |
2 | g.168996675G>T | CA349132676 | ABCB11 | c.437C>A (p.Ala146Asp) c.479C>A (p.Ala160Asp) c.539C>A (p.Ala180Asp) | gnomAD v4 |
2 | g.168996676C>A | CA349132678 | ABCB11 | c.436G>T (p.Ala146Ser) c.478G>T (p.Ala160Ser) c.538G>T (p.Ala180Ser) | gnomAD v4 |
2 | g.168996676C= | CA1306236806 | ABCB11 | c.436G= (p.Ala146=) c.478G= (p.Ala160=) c.538G= (p.Ala180=) | |
2 | g.168996676C>G | CA349132680 | ABCB11 | c.436G>C (p.Ala146Pro) c.478G>C (p.Ala160Pro) c.538G>C (p.Ala180Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168996676C>T | CA349132681 | ABCB11 | c.436G>A (p.Ala146Thr) c.478G>A (p.Ala160Thr) c.538G>A (p.Ala180Thr) | gnomAD v4 |
2 | g.168996677A= | CA1306236808 | ABCB11 | c.435T= (p.Tyr145=) c.477T= (p.Tyr159=) c.537T= (p.Tyr179=) | |
2 | g.168996677A>C | CA349132685 | ABCB11 | c.435T>G (p.Tyr145Ter) c.477T>G (p.Tyr159Ter) c.537T>G (p.Tyr179Ter) | ClinVar |
2 | g.168996677A>G | CA1951890 | ABCB11 | c.435T>C (p.Tyr145=) c.477T>C (p.Tyr159=) c.537T>C (p.Tyr179=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168996677A>T | CA349132683 | ABCB11 | c.435T>A (p.Tyr145Ter) c.477T>A (p.Tyr159Ter) c.537T>A (p.Tyr179Ter) | gnomAD v4 |
2 | g.168996678T>A | CA349132687 | ABCB11 | c.434A>T (p.Tyr145Phe) c.476A>T (p.Tyr159Phe) c.536A>T (p.Tyr179Phe) | |
2 | g.168996678T>C | CA349132688 | ABCB11 | c.434A>G (p.Tyr145Cys) c.476A>G (p.Tyr159Cys) c.536A>G (p.Tyr179Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.168996678T>G | CA349132691 | ABCB11 | c.434A>C (p.Tyr145Ser) c.476A>C (p.Tyr159Ser) c.536A>C (p.Tyr179Ser) | |
2 | g.168996678T= | CA1306236814 | ABCB11 | c.434A= (p.Tyr145=) c.476A= (p.Tyr159=) c.536A= (p.Tyr179=) | |
2 | g.168996679A>C | CA349132693 | ABCB11 | c.433T>G (p.Tyr145Asp) c.475T>G (p.Tyr159Asp) c.535T>G (p.Tyr179Asp) | |
2 | g.168996679A>G | CA349132694 | ABCB11 | c.433T>C (p.Tyr145His) c.475T>C (p.Tyr159His) c.535T>C (p.Tyr179His) | gnomAD v4 |
2 | g.168996679A>T | CA349132696 | ABCB11 | c.433T>A (p.Tyr145Asn) c.475T>A (p.Tyr159Asn) c.535T>A (p.Tyr179Asn) | |
2 | g.168996680G>A | CA429917563 | ABCB11 | c.432C>T (p.Tyr144=) c.474C>T (p.Tyr158=) c.534C>T (p.Tyr178=) | gnomAD v4 |
2 | g.168996680G>C | CA349132699 | ABCB11 | c.432C>G (p.Tyr144Ter) c.474C>G (p.Tyr158Ter) c.534C>G (p.Tyr178Ter) | |
2 | g.168996680G>T | CA349132700 | ABCB11 | c.432C>A (p.Tyr144Ter) c.474C>A (p.Tyr158Ter) c.534C>A (p.Tyr178Ter) | gnomAD v4 |
2 | g.168996680dup | CA2695196977 | ABCB11 | c.432dup (p.Tyr145LeufsTer?) c.474dup (p.Tyr159LeufsTer?) c.534dup (p.Tyr179LeufsTer?) | ClinVar |
2 | g.168996681T>A | CA349132703 | ABCB11 | c.431A>T (p.Tyr144Phe) c.473A>T (p.Tyr158Phe) c.533A>T (p.Tyr178Phe) | |
2 | g.168996681T>C | CA349132704 | ABCB11 | c.431A>G (p.Tyr144Cys) c.473A>G (p.Tyr158Cys) c.533A>G (p.Tyr178Cys) | gnomAD v4 |
2 | g.168996681T>G | CA349132706 | ABCB11 | c.431A>C (p.Tyr144Ser) c.473A>C (p.Tyr158Ser) c.533A>C (p.Tyr178Ser) | |
2 | g.168996682A= | CA1306236817 | ABCB11 | c.430T= (p.Tyr144=) c.472T= (p.Tyr158=) c.532T= (p.Tyr178=) | |
2 | g.168996682A>C | CA349132712 | ABCB11 | c.430T>G (p.Tyr144Asp) c.472T>G (p.Tyr158Asp) c.532T>G (p.Tyr178Asp) | |
2 | g.168996682A>G | CA349132710 | ABCB11 | c.430T>C (p.Tyr144His) c.472T>C (p.Tyr158His) c.532T>C (p.Tyr178His) | gnomAD v4 |
2 | g.168996682A>T | CA349132709 | ABCB11 | c.430T>A (p.Tyr144Asn) c.472T>A (p.Tyr158Asn) c.532T>A (p.Tyr178Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.168996683A>C | CA349132714 | ABCB11 | c.429T>G (p.Ser143Arg) c.471T>G (p.Ser157Arg) c.531T>G (p.Ser177Arg) | |
2 | g.168996683A>G | CA429917565 | ABCB11 | c.429T>C (p.Ser143=) c.471T>C (p.Ser157=) c.531T>C (p.Ser177=) | |
2 | g.168996683A>T | CA349132715 | ABCB11 | c.429T>A (p.Ser143Arg) c.471T>A (p.Ser157Arg) c.531T>A (p.Ser177Arg) | |
2 | g.168996684C>A | CA349132717 | ABCB11 | c.428G>T (p.Ser143Ile) c.470G>T (p.Ser157Ile) c.530G>T (p.Ser177Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.168996684C= | CA1306236822 | ABCB11 | c.428G= (p.Ser143=) c.470G= (p.Ser157=) c.530G= (p.Ser177=) | |
2 | g.168996684C>G | CA349132718 | ABCB11 | c.428G>C (p.Ser143Thr) c.470G>C (p.Ser157Thr) c.530G>C (p.Ser177Thr) | dbSNP |
2 | g.168996684C>T | CA1951891 | ABCB11 | c.428G>A (p.Ser143Asn) c.470G>A (p.Ser157Asn) c.530G>A (p.Ser177Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168996685T>A | CA349132721 | ABCB11 | c.427A>T (p.Ser143Cys) c.469A>T (p.Ser157Cys) c.529A>T (p.Ser177Cys) | gnomAD v4 |
2 | g.168996685T>C | CA349132722 | ABCB11 | c.427A>G (p.Ser143Gly) c.469A>G (p.Ser157Gly) c.529A>G (p.Ser177Gly) | gnomAD v4 |
2 | g.168996685T>G | CA349132724 | ABCB11 | c.427A>C (p.Ser143Arg) c.469A>C (p.Ser157Arg) c.529A>C (p.Ser177Arg) | |
2 | g.168996686G>A | CA429917567 | ABCB11 | c.426C>T (p.Ala142=) c.468C>T (p.Ala156=) c.528C>T (p.Ala176=) | gnomAD v4 |
2 | g.168996686G>C | CA429917568 | ABCB11 | c.426C>G (p.Ala142=) c.468C>G (p.Ala156=) c.528C>G (p.Ala176=) | gnomAD v4 |
2 | g.168996686G>T | CA429917569 | ABCB11 | c.426C>A (p.Ala142=) c.468C>A (p.Ala156=) c.528C>A (p.Ala176=) | gnomAD v4 |
2 | g.168996687G>A | CA59898879 | ABCB11 | c.425C>T (p.Ala142Val) c.467C>T (p.Ala156Val) c.527C>T (p.Ala176Val) | dbSNP gnomAD v4 |
2 | g.168996687G>C | CA349132727 | ABCB11 | c.425C>G (p.Ala142Gly) c.467C>G (p.Ala156Gly) c.527C>G (p.Ala176Gly) | gnomAD v4 |
2 | g.168996687G= | CA1306236829 | ABCB11 | c.425C= (p.Ala142=) c.467C= (p.Ala156=) c.527C= (p.Ala176=) | |
2 | g.168996687G>T | CA349132728 | ABCB11 | c.425C>A (p.Ala142Asp) c.467C>A (p.Ala156Asp) c.527C>A (p.Ala176Asp) | gnomAD v4 |
2 | g.168996688C>A | CA349132730 | ABCB11 | c.424G>T (p.Ala142Ser) c.466G>T (p.Ala156Ser) c.526G>T (p.Ala176Ser) | gnomAD v4 |
2 | g.168996688C>G | CA349132732 | ABCB11 | c.424G>C (p.Ala142Pro) c.466G>C (p.Ala156Pro) c.526G>C (p.Ala176Pro) | |
2 | g.168996688C>T | CA349132734 | ABCB11 | c.424G>A (p.Ala142Thr) c.466G>A (p.Ala156Thr) c.526G>A (p.Ala176Thr) | gnomAD v4 |
2 | g.168996689A>C | CA349132735 | ABCB11 | c.423T>G (p.Phe141Leu) c.465T>G (p.Phe155Leu) c.525T>G (p.Phe175Leu) | |
2 | g.168996689A>G | CA429917573 | ABCB11 | c.423T>C (p.Phe141=) c.465T>C (p.Phe155=) c.525T>C (p.Phe175=) | gnomAD v4 |
2 | g.168996689A>T | CA349132737 | ABCB11 | c.423T>A (p.Phe141Leu) c.465T>A (p.Phe155Leu) c.525T>A (p.Phe175Leu) | |
2 | g.168996691del | CA2661808350 | ABCB11 | c.423del (p.Phe141LeufsTer?) c.465del (p.Phe155LeufsTer?) c.525del (p.Phe175LeufsTer?) | gnomAD v4 |
2 | g.168996690A>C | CA349132739 | ABCB11 | c.422T>G (p.Phe141Cys) c.464T>G (p.Phe155Cys) c.524T>G (p.Phe175Cys) | |
2 | g.168996690A>G | CA349132740 | ABCB11 | c.422T>C (p.Phe141Ser) c.464T>C (p.Phe155Ser) c.524T>C (p.Phe175Ser) | ClinVar |
2 | g.168996690A>T | CA349132743 | ABCB11 | c.422T>A (p.Phe141Tyr) c.464T>A (p.Phe155Tyr) c.524T>A (p.Phe175Tyr) | |
2 | g.168996691A>C | CA349132745 | ABCB11 | c.421T>G (p.Phe141Val) c.463T>G (p.Phe155Val) c.523T>G (p.Phe175Val) | |
2 | g.168996691A>G | CA349132746 | ABCB11 | c.421T>C (p.Phe141Leu) c.463T>C (p.Phe155Leu) c.523T>C (p.Phe175Leu) | gnomAD v4 |
2 | g.168996691A>T | CA349132749 | ABCB11 | c.421T>A (p.Phe141Ile) c.463T>A (p.Phe155Ile) c.523T>A (p.Phe175Ile) | |
2 | g.168996692T>A | CA349132751 | ABCB11 | c.420A>T (p.Lys140Asn) c.462A>T (p.Lys154Asn) c.522A>T (p.Lys174Asn) | |
2 | g.168996692T>C | CA429917575 | ABCB11 | c.420A>G (p.Lys140=) c.462A>G (p.Lys154=) c.522A>G (p.Lys174=) | ClinVar dbSNP gnomAD v4 |
2 | g.168996692T>G | CA349132753 | ABCB11 | c.420A>C (p.Lys140Asn) c.462A>C (p.Lys154Asn) c.522A>C (p.Lys174Asn) | |
2 | g.168996693T>A | CA349132755 | ABCB11 | c.419A>T (p.Lys140Ile) c.461A>T (p.Lys154Ile) c.521A>T (p.Lys174Ile) | gnomAD v4 |
2 | g.168996693T>C | CA349132756 | ABCB11 | c.419A>G (p.Lys140Arg) c.461A>G (p.Lys154Arg) c.521A>G (p.Lys174Arg) | |
2 | g.168996693T>G | CA349132758 | ABCB11 | c.419A>C (p.Lys140Thr) c.461A>C (p.Lys154Thr) c.521A>C (p.Lys174Thr) | |
2 | g.168996694T>A | CA349132763 | ABCB11 | c.418A>T (p.Lys140Ter) c.460A>T (p.Lys154Ter) c.520A>T (p.Lys174Ter) | |
2 | g.168996694T>C | CA349132761 | ABCB11 | c.418A>G (p.Lys140Glu) c.460A>G (p.Lys154Glu) c.520A>G (p.Lys174Glu) | gnomAD v4 |
2 | g.168996694T>G | CA349132760 | ABCB11 | c.418A>C (p.Lys140Gln) c.460A>C (p.Lys154Gln) c.520A>C (p.Lys174Gln) | |
2 | g.168996695G>A | CA429917577 | ABCB11 | c.417C>T (p.Ile139=) c.459C>T (p.Ile153=) c.519C>T (p.Ile173=) | gnomAD v4 |
2 | g.168996695G>C | CA349132767 | ABCB11 | c.417C>G (p.Ile139Met) c.459C>G (p.Ile153Met) c.519C>G (p.Ile173Met) | |
2 | g.168996695G= | CA1306236833 | ABCB11 | c.417C= (p.Ile139=) c.459C= (p.Ile153=) c.519C= (p.Ile173=) | |
2 | g.168996695G>T | CA429917578 | ABCB11 | c.417C>A (p.Ile139=) c.459C>A (p.Ile153=) c.519C>A (p.Ile173=) | ClinVar dbSNP gnomAD v4 |
2 | g.168996696A= | CA1306236836 | ABCB11 | c.416T= (p.Ile139=) c.458T= (p.Ile153=) c.518T= (p.Ile173=) | |
2 | g.168996696A>C | CA349132769 | ABCB11 | c.416T>G (p.Ile139Ser) c.458T>G (p.Ile153Ser) c.518T>G (p.Ile173Ser) | |
2 | g.168996696A>G | CA1951892 | ABCB11 | c.416T>C (p.Ile139Thr) c.458T>C (p.Ile153Thr) c.518T>C (p.Ile173Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.168996696A>T | CA349132774 | ABCB11 | c.416T>A (p.Ile139Asn) c.458T>A (p.Ile153Asn) c.518T>A (p.Ile173Asn) | |
2 | g.168996697T>A | CA349132777 | ABCB11 | c.415A>T (p.Ile139Phe) c.457A>T (p.Ile153Phe) c.517A>T (p.Ile173Phe) | |
2 | g.168996697T>C | CA59898880 | ABCB11 | c.415A>G (p.Ile139Val) c.457A>G (p.Ile153Val) c.517A>G (p.Ile173Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168996697T>G | CA349132781 | ABCB11 | c.415A>C (p.Ile139Leu) c.457A>C (p.Ile153Leu) c.517A>C (p.Ile173Leu) | |
2 | g.168996697T= | CA1306236838 | ABCB11 | c.415A= (p.Ile139=) c.457A= (p.Ile153=) c.517A= (p.Ile173=) | |
2 | g.168996698C>A | CA349132784 | ABCB11 | c.414G>T (p.Met138Ile) c.456G>T (p.Met152Ile) c.516G>T (p.Met172Ile) | gnomAD v4 |
2 | g.168996698C>G | CA349132787 | ABCB11 | c.414G>C (p.Met138Ile) c.456G>C (p.Met152Ile) c.516G>C (p.Met172Ile) | |
2 | g.168996698C>T | CA349132790 | ABCB11 | c.414G>A (p.Met138Ile) c.456G>A (p.Met152Ile) c.516G>A (p.Met172Ile) | gnomAD v4 |
2 | g.168996699A>C | CA349132793 | ABCB11 | c.413T>G (p.Met138Arg) c.455T>G (p.Met152Arg) c.515T>G (p.Met172Arg) | |
2 | g.168996699A>G | CA349132796 | ABCB11 | c.413T>C (p.Met138Thr) c.455T>C (p.Met152Thr) c.515T>C (p.Met172Thr) | gnomAD v4 |
2 | g.168996699A>T | CA349132799 | ABCB11 | c.413T>A (p.Met138Lys) c.455T>A (p.Met152Lys) c.515T>A (p.Met172Lys) | |
2 | g.168996700T>A | CA349132809 | ABCB11 | c.412A>T (p.Met138Leu) c.454A>T (p.Met152Leu) c.514A>T (p.Met172Leu) | |
2 | g.168996700T>C | CA349132806 | ABCB11 | c.412A>G (p.Met138Val) c.454A>G (p.Met152Val) c.514A>G (p.Met172Val) | gnomAD v4 |
2 | g.168996700T>G | CA349132803 | ABCB11 | c.412A>C (p.Met138Leu) c.454A>C (p.Met152Leu) c.514A>C (p.Met172Leu) | |
2 | g.168996701T>A | CA349132811 | ABCB11 | c.411A>T (p.Glu137Asp) c.453A>T (p.Glu151Asp) c.513A>T (p.Glu171Asp) | |
2 | g.168996701T>C | CA429917585 | ABCB11 | c.411A>G (p.Glu137=) c.453A>G (p.Glu151=) c.513A>G (p.Glu171=) | gnomAD v4 |
2 | g.168996701T>G | CA349132814 | ABCB11 | c.411A>C (p.Glu137Asp) c.453A>C (p.Glu151Asp) c.513A>C (p.Glu171Asp) | |
2 | g.168996702T>A | CA349132817 | ABCB11 | c.410A>T (p.Glu137Val) c.452A>T (p.Glu151Val) c.512A>T (p.Glu171Val) | |
2 | g.168996702T>C | CA349132819 | ABCB11 | c.410A>G (p.Glu137Gly) c.452A>G (p.Glu151Gly) c.512A>G (p.Glu171Gly) | gnomAD v4 |
2 | g.168996702T>G | CA349132822 | ABCB11 | c.410A>C (p.Glu137Ala) c.452A>C (p.Glu151Ala) c.512A>C (p.Glu171Ala) | dbSNP |
2 | g.168996702T= | CA1306236840 | ABCB11 | c.410A= (p.Glu137=) c.452A= (p.Glu151=) c.512A= (p.Glu171=) | |
2 | g.168996703C>A | CA349132826 | ABCB11 | c.409G>T (p.Glu137Ter) c.451G>T (p.Glu151Ter) c.511G>T (p.Glu171Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.168996703C= | CA1306236846 | ABCB11 | c.409G= (p.Glu137=) c.451G= (p.Glu151=) c.511G= (p.Glu171=) | |
2 | g.168996703C>G | CA349132828 | ABCB11 | c.409G>C (p.Glu137Gln) c.451G>C (p.Glu151Gln) c.511G>C (p.Glu171Gln) | gnomAD v4 |
2 | g.168996703C>T | CA59898882 | ABCB11 | c.409G>A (p.Glu137Lys) c.451G>A (p.Glu151Lys) c.511G>A (p.Glu171Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.168996704G>A | CA1951893 | ABCB11 | c.408C>T (p.Ser136=) c.450C>T (p.Ser150=) c.510C>T (p.Ser170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168996704G>C | CA349132835 | ABCB11 | c.408C>G (p.Ser136Arg) c.450C>G (p.Ser150Arg) c.510C>G (p.Ser170Arg) | |
2 | g.168996704G= | CA1306236853 | ABCB11 | c.408C= (p.Ser136=) c.450C= (p.Ser150=) c.510C= (p.Ser170=) | |
2 | g.168996704G>T | CA349132838 | ABCB11 | c.408C>A (p.Ser136Arg) c.450C>A (p.Ser150Arg) c.510C>A (p.Ser170Arg) | gnomAD v4 COSMIC COSMIC |
2 | g.168996705C>A | CA349132843 | ABCB11 | c.407G>T (p.Ser136Ile) c.449G>T (p.Ser150Ile) c.509G>T (p.Ser170Ile) | gnomAD v4 |
2 | g.168996705C>G | CA349132845 | ABCB11 | c.407G>C (p.Ser136Thr) c.449G>C (p.Ser150Thr) c.509G>C (p.Ser170Thr) | |
2 | g.168996705C>T | CA349132846 | ABCB11 | c.407G>A (p.Ser136Asn) c.449G>A (p.Ser150Asn) c.509G>A (p.Ser170Asn) | gnomAD v4 |
2 | g.168996706T>A | CA349132854 | ABCB11 | c.406A>T (p.Ser136Cys) c.448A>T (p.Ser150Cys) c.508A>T (p.Ser170Cys) | |
2 | g.168996706T>C | CA349132856 | ABCB11 | c.406A>G (p.Ser136Gly) c.448A>G (p.Ser150Gly) c.508A>G (p.Ser170Gly) | gnomAD v4 |
2 | g.168996706T>G | CA349132851 | ABCB11 | c.406A>C (p.Ser136Arg) c.448A>C (p.Ser150Arg) c.508A>C (p.Ser170Arg) | |
2 | g.168996707C>A | CA349132860 | ABCB11 | c.405G>T (p.Glu135Asp) c.447G>T (p.Glu149Asp) c.507G>T (p.Glu169Asp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.168996707C>G | CA349132862 | ABCB11 | c.405G>C (p.Glu135Asp) c.447G>C (p.Glu149Asp) c.507G>C (p.Glu169Asp) | |
2 | g.168996707C>T | CA429917592 | ABCB11 | c.405G>A (p.Glu135=) c.447G>A (p.Glu149=) c.507G>A (p.Glu169=) | gnomAD v4 |
2 | g.168996708T>A | CA349132865 | ABCB11 | c.404A>T (p.Glu135Val) c.446A>T (p.Glu149Val) c.506A>T (p.Glu169Val) | |
2 | g.168996708T>C | CA349132867 | ABCB11 | c.404A>G (p.Glu135Gly) c.446A>G (p.Glu149Gly) c.506A>G (p.Glu169Gly) | dbSNP gnomAD v4 |
2 | g.168996708T>G | CA349132870 | ABCB11 | c.404A>C (p.Glu135Ala) c.446A>C (p.Glu149Ala) c.506A>C (p.Glu169Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.168996708T= | CA1306236863 | ABCB11 | c.404A= (p.Glu135=) c.446A= (p.Glu149=) c.506A= (p.Glu169=) | |
2 | g.168996710_168996726del | CA2839512380 | ABCB11 | c.390-2_404del c.432-2_446del c.492-2_506del | |
2 | g.168996709C>A | CA349132873 | ABCB11 | c.403G>T (p.Glu135Ter) c.445G>T (p.Glu149Ter) c.505G>T (p.Glu169Ter) | gnomAD v4 COSMIC COSMIC |
2 | g.168996709C= | CA1306236869 | ABCB11 | c.403G= (p.Glu135=) c.445G= (p.Glu149=) c.505G= (p.Glu169=) | |
2 | g.168996709C>G | CA349132875 | ABCB11 | c.403G>C (p.Glu135Gln) c.445G>C (p.Glu149Gln) c.505G>C (p.Glu169Gln) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.168996709C>T | CA1951894 | ABCB11 | c.403G>A (p.Glu135Lys) c.445G>A (p.Glu149Lys) c.505G>A (p.Glu169Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168996710G>A | CA1951895 | ABCB11 | c.402C>T (p.Ile134=) c.444C>T (p.Ile148=) c.504C>T (p.Ile168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168996710G>C | CA349132881 | ABCB11 | c.402C>G (p.Ile134Met) c.444C>G (p.Ile148Met) c.504C>G (p.Ile168Met) | gnomAD v4 |
2 | g.168996710G= | CA1306236876 | ABCB11 | c.402C= (p.Ile134=) c.444C= (p.Ile148=) c.504C= (p.Ile168=) | |
2 | g.168996710G>T | CA429917593 | ABCB11 | c.402C>A (p.Ile134=) c.444C>A (p.Ile148=) c.504C>A (p.Ile168=) | gnomAD v4 |
2 | g.168996711A>C | CA349132884 | ABCB11 | c.401T>G (p.Ile134Ser) c.443T>G (p.Ile148Ser) c.503T>G (p.Ile168Ser) | |
2 | g.168996711A>G | CA349132890 | ABCB11 | c.401T>C (p.Ile134Thr) c.443T>C (p.Ile148Thr) c.503T>C (p.Ile168Thr) | gnomAD v4 |
2 | g.168996711A>T | CA349132892 | ABCB11 | c.401T>A (p.Ile134Asn) c.443T>A (p.Ile148Asn) c.503T>A (p.Ile168Asn) | gnomAD v4 |
2 | g.168996712T>A | CA349132897 | ABCB11 | c.400A>T (p.Ile134Phe) c.442A>T (p.Ile148Phe) c.502A>T (p.Ile168Phe) | dbSNP |
2 | g.168996712T>C | CA349132894 | ABCB11 | c.400A>G (p.Ile134Val) c.442A>G (p.Ile148Val) c.502A>G (p.Ile168Val) | |
2 | g.168996712T>G | CA349132895 | ABCB11 | c.400A>C (p.Ile134Leu) c.442A>C (p.Ile148Leu) c.502A>C (p.Ile168Leu) | |
2 | g.168996712T= | CA1306236880 | ABCB11 | c.400A= (p.Ile134=) c.442A= (p.Ile148=) c.502A= (p.Ile168=) | |
2 | g.168996713G>A | CA1951896 | ABCB11 | c.399C>T (p.Asn133=) c.441C>T (p.Asn147=) c.501C>T (p.Asn167=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168996713G>C | CA349132902 | ABCB11 | c.399C>G (p.Asn133Lys) c.441C>G (p.Asn147Lys) c.501C>G (p.Asn167Lys) | |
2 | g.168996713G= | CA1306236885 | ABCB11 | c.399C= (p.Asn133=) c.441C= (p.Asn147=) c.501C= (p.Asn167=) | |
2 | g.168996713G>T | CA349132905 | ABCB11 | c.399C>A (p.Asn133Lys) c.441C>A (p.Asn147Lys) c.501C>A (p.Asn167Lys) | gnomAD v4 COSMIC COSMIC |
2 | g.168996714T>A | CA349132907 | ABCB11 | c.398A>T (p.Asn133Ile) c.440A>T (p.Asn147Ile) c.500A>T (p.Asn167Ile) | gnomAD v4 |
2 | g.168996714T>C | CA349132910 | ABCB11 | c.398A>G (p.Asn133Ser) c.440A>G (p.Asn147Ser) c.500A>G (p.Asn167Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.168996714T>G | CA349132913 | ABCB11 | c.398A>C (p.Asn133Thr) c.440A>C (p.Asn147Thr) c.500A>C (p.Asn167Thr) | |
2 | g.168996714T= | CA1306236890 | ABCB11 | c.398A= (p.Asn133=) c.440A= (p.Asn147=) c.500A= (p.Asn167=) | |
2 | g.168996715del | CA2661808351 | ABCB11 | c.398del (p.Asn133ThrfsTer6) c.440del (p.Asn147ThrfsTer6) c.500del (p.Asn167ThrfsTer6) | gnomAD v4 |
2 | g.168996715T>A | CA349132916 | ABCB11 | c.397A>T (p.Asn133Tyr) c.439A>T (p.Asn147Tyr) c.499A>T (p.Asn167Tyr) | |
2 | g.168996715T>C | CA349132917 | ABCB11 | c.397A>G (p.Asn133Asp) c.439A>G (p.Asn147Asp) c.499A>G (p.Asn167Asp) | gnomAD v4 |
2 | g.168996715T>G | CA349132919 | ABCB11 | c.397A>C (p.Asn133His) c.439A>C (p.Asn147His) c.499A>C (p.Asn167His) | |
2 | g.168996753_168996754insTTGAAGGTTGCTGAACATCGAGAGCGAAATGATCAGCAACCTTCAAAAGAGGGAAAAGAATGTTCAGACTT | CA1039043592 | ABCB11 | c.397_398insTCATTTCGCTCTCGATGTTCAGCAACCTTCAAAAGTCTGAACATTCTTTTCCCTCTTTTGAAGGTTGCTGA c.439_440insTCATTTCGCTCTCGATGTTCAGCAACCTTCAAAAGTCTGAACATTCTTTTCCCTCTTTTGAAGGTTGCTGA c.499_500insTCATTTCGCTCTCGATGTTCAGCAACCTTCAAAAGTCTGAACATTCTTTTCCCTCTTTTGAAGGTTGCTGA | |
2 | g.168996716C>A | CA429917594 | ABCB11 | c.396G>T (p.Leu132=) c.438G>T (p.Leu146=) c.498G>T (p.Leu166=) | ClinVar dbSNP gnomAD v4 |
2 | g.168996716C>G | CA429917595 | ABCB11 | c.396G>C (p.Leu132=) c.438G>C (p.Leu146=) c.498G>C (p.Leu166=) | |
2 | g.168996716C>T | CA429917596 | ABCB11 | c.396G>A (p.Leu132=) c.438G>A (p.Leu146=) c.498G>A (p.Leu166=) | gnomAD v4 |
2 | g.168996717A>C | CA349132922 | ABCB11 | c.395T>G (p.Leu132Arg) c.437T>G (p.Leu146Arg) c.497T>G (p.Leu166Arg) | |
2 | g.168996717A>G | CA349132924 | ABCB11 | c.395T>C (p.Leu132Pro) c.437T>C (p.Leu146Pro) c.497T>C (p.Leu166Pro) | gnomAD v4 |
2 | g.168996717A>T | CA349132925 | ABCB11 | c.395T>A (p.Leu132Gln) c.437T>A (p.Leu146Gln) c.497T>A (p.Leu166Gln) | gnomAD v4 |
2 | g.168996718G>A | CA429917597 | ABCB11 | c.394C>T (p.Leu132=) c.436C>T (p.Leu146=) c.496C>T (p.Leu166=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.168996718G>C | CA349132930 | ABCB11 | c.394C>G (p.Leu132Val) c.436C>G (p.Leu146Val) c.496C>G (p.Leu166Val) | |
2 | g.168996718G= | CA1306236893 | ABCB11 | c.394C= (p.Leu132=) c.436C= (p.Leu146=) c.496C= (p.Leu166=) | |
2 | g.168996718G>T | CA349132929 | ABCB11 | c.394C>A (p.Leu132Met) c.436C>A (p.Leu146Met) c.496C>A (p.Leu166Met) | gnomAD v4 |
2 | g.168996719C>A | CA349132934 | ABCB11 | c.393G>T (p.Leu131Phe) c.435G>T (p.Leu145Phe) c.495G>T (p.Leu165Phe) | gnomAD v4 |
2 | g.168996719C= | CA1306236897 | ABCB11 | c.393G= (p.Leu131=) c.435G= (p.Leu145=) c.495G= (p.Leu165=) | |
2 | g.168996719C>G | CA349132938 | ABCB11 | c.393G>C (p.Leu131Phe) c.435G>C (p.Leu145Phe) c.495G>C (p.Leu165Phe) | |
2 | g.168996719C>T | CA1951897 | ABCB11 | c.393G>A (p.Leu131=) c.435G>A (p.Leu145=) c.495G>A (p.Leu165=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.168996720A>C | CA349132940 | ABCB11 | c.392T>G (p.Leu131Trp) c.434T>G (p.Leu145Trp) c.494T>G (p.Leu165Trp) | |
2 | g.168996720A>G | CA349132944 | ABCB11 | c.392T>C (p.Leu131Ser) c.434T>C (p.Leu145Ser) c.494T>C (p.Leu165Ser) | gnomAD v4 |
2 | g.168996720A>T | CA349132943 | ABCB11 | c.392T>A (p.Leu131Ter) c.434T>A (p.Leu145Ter) c.494T>A (p.Leu165Ter) | ClinVar |
2 | g.168996721A>C | CA349132947 | ABCB11 | c.391T>G (p.Leu131Val) c.433T>G (p.Leu145Val) c.493T>G (p.Leu165Val) | |
2 | g.168996721A>G | CA429917598 | ABCB11 | c.391T>C (p.Leu131=) c.433T>C (p.Leu145=) c.493T>C (p.Leu165=) | ClinVar gnomAD v4 COSMIC COSMIC |
2 | g.168996721A>T | CA349132950 | ABCB11 | c.391T>A (p.Leu131Met) c.433T>A (p.Leu145Met) c.493T>A (p.Leu165Met) | |
2 | g.168996721_168996722delinsAC | CA1306236899 | ABCB11 | c.390_391delinsGT (p.Gly130=) c.432_433delinsGT (p.Gly144=) c.492_493delinsGT (p.Gly164=) | |
2 | g.168996722C>A | CA429917599 | ABCB11 | c.390G>T (p.Gly130=) c.432G>T (p.Gly144=) c.492G>T (p.Gly164=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.168996722C= | CA1306236901 | ABCB11 | c.390G= (p.Gly130=) c.432G= (p.Gly144=) c.492G= (p.Gly164=) | |
2 | g.168996722C>G | CA429917601 | ABCB11 | c.390G>C (p.Gly130=) c.432G>C (p.Gly144=) c.492G>C (p.Gly164=) | |
2 | g.168996722C>T | CA429917600 | ABCB11 | c.390G>A (p.Gly130=) c.432G>A (p.Gly144=) c.492G>A (p.Gly164=) | gnomAD v4 |
2 | g.168996723dup | CA59898904 | ABCB11 | c.390dup c.432dup c.492dup | dbSNP |
2 | g.168996723del | CA59898903 | ABCB11 | c.390del c.432del c.492del | dbSNP |
2 | g.168996723C>A | CA349132952 | ABCB11 | c.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 |
2 | g.168996723C= | CA1306236905 | ABCB11 | c.390-1G= (n.390-1G=) c.432-1G= (n.432-1G=) c.492-1G= (n.492-1G=) | |
2 | g.168996723C>G | CA349132957 | ABCB11 | c.390-1G>C (n.390-1G>C) c.432-1G>C (n.432-1G>C) c.492-1G>C (n.492-1G>C) | |
2 | g.168996723C>T | CA349132954 | ABCB11 | c.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 |
2 | g.168996724T>A | CA349132961 | ABCB11 | c.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 |
2 | g.168996724T>C | CA349132964 | ABCB11 | c.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 |
2 | g.168996724T>G | CA349132962 | ABCB11 | c.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 |
2 | g.168996724T= | CA1306236911 | ABCB11 | c.390-2A= (n.390-2A=) c.432-2A= (n.432-2A=) c.492-2A= (n.492-2A=) | |
2 | g.168996725del | CA2661808352 | ABCB11 | c.390-2del (n.390-2del) c.432-2del (n.432-2del) c.492-2del (n.492-2del) | gnomAD v4 |
2 | g.168996725T>C | CA2661808353 | ABCB11 | c.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 |
2 | g.168996726C>A | CA2661808354 | ABCB11 | c.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 |