Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.168944865A>C	CA349127287	ABCB11	c.757T>G (p.Phe253Val) c.2440T>G (p.Phe814Val) c.1129T>G (n.1129T>G) c.2482T>G (p.Phe828Val) c.2542T>G (p.Phe848Val) c.766T>G (p.Phe256Val) c.1771T>G (p.Phe591Val) c.1225T>G (p.Phe409Val)
2	g.168944865A>G	CA349127289	ABCB11	c.757T>C (p.Phe253Leu) c.2440T>C (p.Phe814Leu) c.1129T>C (n.1129T>C) c.2482T>C (p.Phe828Leu) c.2542T>C (p.Phe848Leu) c.766T>C (p.Phe256Leu) c.1771T>C (p.Phe591Leu) c.1225T>C (p.Phe409Leu)
2	g.168944865A>T	CA349127295	ABCB11	c.757T>A (p.Phe253Ile) c.2440T>A (p.Phe814Ile) c.1129T>A (n.1129T>A) c.2482T>A (p.Phe828Ile) c.2542T>A (p.Phe848Ile) c.766T>A (p.Phe256Ile) c.1771T>A (p.Phe591Ile) c.1225T>A (p.Phe409Ile)
2	g.168944866T>A	CA349127302	ABCB11	c.756A>T (p.Gln252His) c.2439A>T (p.Gln813His) c.1128A>T (n.1128A>T) c.2481A>T (p.Gln827His) c.2541A>T (p.Gln847His) c.765A>T (p.Gln255His) c.1770A>T (p.Gln590His) c.1224A>T (p.Gln408His)
2	g.168944866T>C	CA1951285	ABCB11	c.756A>G (p.Gln252=) c.2439A>G (p.Gln813=) c.1128A>G (n.1128A>G) c.2481A>G (p.Gln827=) c.2541A>G (p.Gln847=) c.765A>G (p.Gln255=) c.1770A>G (p.Gln590=) c.1224A>G (p.Gln408=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.168944866T>G	CA349127300	ABCB11	c.756A>C (p.Gln252His) c.2439A>C (p.Gln813His) c.1128A>C (n.1128A>C) c.2481A>C (p.Gln827His) c.2541A>C (p.Gln847His) c.765A>C (p.Gln255His) c.1770A>C (p.Gln590His) c.1224A>C (p.Gln408His)
2	g.168944866T=	CA1306207337	ABCB11	c.756A= (p.Gln252=) c.2439A= (p.Gln813=) c.1128A= (n.1128A=) c.2481A= (p.Gln827=) c.2541A= (p.Gln847=) c.765A= (p.Gln255=) c.1770A= (p.Gln590=) c.1224A= (p.Gln408=)
2	g.168944867T>A	CA349127305	ABCB11	c.755A>T (p.Gln252Leu) c.2438A>T (p.Gln813Leu) c.1127A>T (n.1127A>T) c.2480A>T (p.Gln827Leu) c.2540A>T (p.Gln847Leu) c.764A>T (p.Gln255Leu) c.1769A>T (p.Gln590Leu) c.1223A>T (p.Gln408Leu)
2	g.168944867T>C	CA349127308	ABCB11	c.755A>G (p.Gln252Arg) c.2438A>G (p.Gln813Arg) c.1127A>G (n.1127A>G) c.2480A>G (p.Gln827Arg) c.2540A>G (p.Gln847Arg) c.764A>G (p.Gln255Arg) c.1769A>G (p.Gln590Arg) c.1223A>G (p.Gln408Arg)
2	g.168944867T>G	CA349127309	ABCB11	c.755A>C (p.Gln252Pro) c.2438A>C (p.Gln813Pro) c.1127A>C (n.1127A>C) c.2480A>C (p.Gln827Pro) c.2540A>C (p.Gln847Pro) c.764A>C (p.Gln255Pro) c.1769A>C (p.Gln590Pro) c.1223A>C (p.Gln408Pro)
2	g.168944868G>A	CA349127312	ABCB11	c.754C>T (p.Gln252Ter) c.2437C>T (p.Gln813Ter) c.1126C>T (n.1126C>T) c.2479C>T (p.Gln827Ter) c.2539C>T (p.Gln847Ter) c.763C>T (p.Gln255Ter) c.1768C>T (p.Gln590Ter) c.1222C>T (p.Gln408Ter)	ClinVar dbSNP
2	g.168944868G>C	CA349127315	ABCB11	c.754C>G (p.Gln252Glu) c.2437C>G (p.Gln813Glu) c.1126C>G (n.1126C>G) c.2479C>G (p.Gln827Glu) c.2539C>G (p.Gln847Glu) c.763C>G (p.Gln255Glu) c.1768C>G (p.Gln590Glu) c.1222C>G (p.Gln408Glu)
2	g.168944868G>T	CA349127319	ABCB11	c.754C>A (p.Gln252Lys) c.2437C>A (p.Gln813Lys) c.1126C>A (n.1126C>A) c.2479C>A (p.Gln827Lys) c.2539C>A (p.Gln847Lys) c.763C>A (p.Gln255Lys) c.1768C>A (p.Gln590Lys) c.1222C>A (p.Gln408Lys)
2	g.168944869G>A	CA429985349	ABCB11	c.753C>T (p.Thr251=) c.2436C>T (p.Thr812=) c.1125C>T (n.1125C>T) c.2478C>T (p.Thr826=) c.2538C>T (p.Thr846=) c.762C>T (p.Thr254=) c.1767C>T (p.Thr589=) c.1221C>T (p.Thr407=)	gnomAD v4
2	g.168944869G>C	CA429985350	ABCB11	c.753C>G (p.Thr251=) c.2436C>G (p.Thr812=) c.1125C>G (n.1125C>G) c.2478C>G (p.Thr826=) c.2538C>G (p.Thr846=) c.762C>G (p.Thr254=) c.1767C>G (p.Thr589=) c.1221C>G (p.Thr407=)
2	g.168944869G>T	CA429985351	ABCB11	c.753C>A (p.Thr251=) c.2436C>A (p.Thr812=) c.1125C>A (n.1125C>A) c.2478C>A (p.Thr826=) c.2538C>A (p.Thr846=) c.762C>A (p.Thr254=) c.1767C>A (p.Thr589=) c.1221C>A (p.Thr407=)
2	g.168944870G>A	CA349127320	ABCB11	c.752C>T (p.Thr251Ile) c.2435C>T (p.Thr812Ile) c.1124C>T (n.1124C>T) c.2477C>T (p.Thr826Ile) c.2537C>T (p.Thr846Ile) c.761C>T (p.Thr254Ile) c.1766C>T (p.Thr589Ile) c.1220C>T (p.Thr407Ile)	dbSNP gnomAD v2 gnomAD v4
2	g.168944870G>C	CA349127321	ABCB11	c.752C>G (p.Thr251Ser) c.2435C>G (p.Thr812Ser) c.1124C>G (n.1124C>G) c.2477C>G (p.Thr826Ser) c.2537C>G (p.Thr846Ser) c.761C>G (p.Thr254Ser) c.1766C>G (p.Thr589Ser) c.1220C>G (p.Thr407Ser)
2	g.168944870G=	CA1306207344	ABCB11	c.752C= (p.Thr251=) c.2435C= (p.Thr812=) c.1124C= (n.1124C=) c.2477C= (p.Thr826=) c.2537C= (p.Thr846=) c.761C= (p.Thr254=) c.1766C= (p.Thr589=) c.1220C= (p.Thr407=)
2	g.168944870G>T	CA349127322	ABCB11	c.752C>A (p.Thr251Asn) c.2435C>A (p.Thr812Asn) c.1124C>A (n.1124C>A) c.2477C>A (p.Thr826Asn) c.2537C>A (p.Thr846Asn) c.761C>A (p.Thr254Asn) c.1766C>A (p.Thr589Asn) c.1220C>A (p.Thr407Asn)	gnomAD v4
2	g.168944871T>A	CA349127325	ABCB11	c.751A>T (p.Thr251Ser) c.2434A>T (p.Thr812Ser) c.1123A>T (n.1123A>T) c.2476A>T (p.Thr826Ser) c.2536A>T (p.Thr846Ser) c.760A>T (p.Thr254Ser) c.1765A>T (p.Thr589Ser) c.1219A>T (p.Thr407Ser)
2	g.168944871T>C	CA349127327	ABCB11	c.751A>G (p.Thr251Ala) c.2434A>G (p.Thr812Ala) c.1123A>G (n.1123A>G) c.2476A>G (p.Thr826Ala) c.2536A>G (p.Thr846Ala) c.760A>G (p.Thr254Ala) c.1765A>G (p.Thr589Ala) c.1219A>G (p.Thr407Ala)
2	g.168944871T>G	CA349127335	ABCB11	c.751A>C (p.Thr251Pro) c.2434A>C (p.Thr812Pro) c.1123A>C (n.1123A>C) c.2476A>C (p.Thr826Pro) c.2536A>C (p.Thr846Pro) c.760A>C (p.Thr254Pro) c.1765A>C (p.Thr589Pro) c.1219A>C (p.Thr407Pro)
2	g.168944872G>A	CA429985361	ABCB11	c.750C>T (p.Phe250=) c.2433C>T (p.Phe811=) c.1122C>T (n.1122C>T) c.2475C>T (p.Phe825=) c.2535C>T (p.Phe845=) c.759C>T (p.Phe253=) c.1764C>T (p.Phe588=) c.1218C>T (p.Phe406=)	gnomAD v4
2	g.168944872G>C	CA349127344	ABCB11	c.750C>G (p.Phe250Leu) c.2433C>G (p.Phe811Leu) c.1122C>G (n.1122C>G) c.2475C>G (p.Phe825Leu) c.2535C>G (p.Phe845Leu) c.759C>G (p.Phe253Leu) c.1764C>G (p.Phe588Leu) c.1218C>G (p.Phe406Leu)
2	g.168944872G>T	CA349127341	ABCB11	c.750C>A (p.Phe250Leu) c.2433C>A (p.Phe811Leu) c.1122C>A (n.1122C>A) c.2475C>A (p.Phe825Leu) c.2535C>A (p.Phe845Leu) c.759C>A (p.Phe253Leu) c.1764C>A (p.Phe588Leu) c.1218C>A (p.Phe406Leu)	gnomAD v4
2	g.168944873A>C	CA349127348	ABCB11	c.749T>G (p.Phe250Cys) c.2432T>G (p.Phe811Cys) c.1121T>G (n.1121T>G) c.2474T>G (p.Phe825Cys) c.2534T>G (p.Phe845Cys) c.758T>G (p.Phe253Cys) c.1763T>G (p.Phe588Cys) c.1217T>G (p.Phe406Cys)	gnomAD v4
2	g.168944873A>G	CA349127364	ABCB11	c.749T>C (p.Phe250Ser) c.2432T>C (p.Phe811Ser) c.1121T>C (n.1121T>C) c.2474T>C (p.Phe825Ser) c.2534T>C (p.Phe845Ser) c.758T>C (p.Phe253Ser) c.1763T>C (p.Phe588Ser) c.1217T>C (p.Phe406Ser)
2	g.168944873A>T	CA349127350	ABCB11	c.749T>A (p.Phe250Tyr) c.2432T>A (p.Phe811Tyr) c.1121T>A (n.1121T>A) c.2474T>A (p.Phe825Tyr) c.2534T>A (p.Phe845Tyr) c.758T>A (p.Phe253Tyr) c.1763T>A (p.Phe588Tyr) c.1217T>A (p.Phe406Tyr)
2	g.168944876del	CA2661805140	ABCB11	c.749del (p.Phe250SerfsTer17) c.2432del (p.Phe811SerfsTer17) c.1121del (n.1121del) c.2474del (p.Phe825SerfsTer17) c.2534del (p.Phe845SerfsTer17) c.758del (p.Phe253SerfsTer17) c.1763del (p.Phe588SerfsTer17) c.1217del (p.Phe406SerfsTer17)	ClinVar gnomAD v4
2	g.168944874A>C	CA349127378	ABCB11	c.748T>G (p.Phe250Val) c.2431T>G (p.Phe811Val) c.1120T>G (n.1120T>G) c.2473T>G (p.Phe825Val) c.2533T>G (p.Phe845Val) c.757T>G (p.Phe253Val) c.1762T>G (p.Phe588Val) c.1216T>G (p.Phe406Val)
2	g.168944874A>G	CA349127382	ABCB11	c.748T>C (p.Phe250Leu) c.2431T>C (p.Phe811Leu) c.1120T>C (n.1120T>C) c.2473T>C (p.Phe825Leu) c.2533T>C (p.Phe845Leu) c.757T>C (p.Phe253Leu) c.1762T>C (p.Phe588Leu) c.1216T>C (p.Phe406Leu)
2	g.168944874A>T	CA349127386	ABCB11	c.748T>A (p.Phe250Ile) c.2431T>A (p.Phe811Ile) c.1120T>A (n.1120T>A) c.2473T>A (p.Phe825Ile) c.2533T>A (p.Phe845Ile) c.757T>A (p.Phe253Ile) c.1762T>A (p.Phe588Ile) c.1216T>A (p.Phe406Ile)
2	g.168944875A>C	CA429985365	ABCB11	c.747T>G (p.Leu249=) c.2430T>G (p.Leu810=) c.1119T>G (n.1119T>G) c.2472T>G (p.Leu824=) c.2532T>G (p.Leu844=) c.756T>G (p.Leu252=) c.1761T>G (p.Leu587=) c.1215T>G (p.Leu405=)
2	g.168944875A>G	CA429985366	ABCB11	c.747T>C (p.Leu249=) c.2430T>C (p.Leu810=) c.1119T>C (n.1119T>C) c.2472T>C (p.Leu824=) c.2532T>C (p.Leu844=) c.756T>C (p.Leu252=) c.1761T>C (p.Leu587=) c.1215T>C (p.Leu405=)
2	g.168944875A>T	CA429985367	ABCB11	c.747T>A (p.Leu249=) c.2430T>A (p.Leu810=) c.1119T>A (n.1119T>A) c.2472T>A (p.Leu824=) c.2532T>A (p.Leu844=) c.756T>A (p.Leu252=) c.1761T>A (p.Leu587=) c.1215T>A (p.Leu405=)
2	g.168944876A>C	CA349127387	ABCB11	c.746T>G (p.Leu249Arg) c.2429T>G (p.Leu810Arg) c.1118T>G (n.1118T>G) c.2471T>G (p.Leu824Arg) c.2531T>G (p.Leu844Arg) c.755T>G (p.Leu252Arg) c.1760T>G (p.Leu587Arg) c.1214T>G (p.Leu405Arg)
2	g.168944876A>G	CA349127388	ABCB11	c.746T>C (p.Leu249Pro) c.2429T>C (p.Leu810Pro) c.1118T>C (n.1118T>C) c.2471T>C (p.Leu824Pro) c.2531T>C (p.Leu844Pro) c.755T>C (p.Leu252Pro) c.1760T>C (p.Leu587Pro) c.1214T>C (p.Leu405Pro)
2	g.168944876A>T	CA349127392	ABCB11	c.746T>A (p.Leu249His) c.2429T>A (p.Leu810His) c.1118T>A (n.1118T>A) c.2471T>A (p.Leu824His) c.2531T>A (p.Leu844His) c.755T>A (p.Leu252His) c.1760T>A (p.Leu587His) c.1214T>A (p.Leu405His)
2	g.168944877G>A	CA349127397	ABCB11	c.745C>T (p.Leu249Phe) c.2428C>T (p.Leu810Phe) c.1117C>T (n.1117C>T) c.2470C>T (p.Leu824Phe) c.2530C>T (p.Leu844Phe) c.754C>T (p.Leu252Phe) c.1759C>T (p.Leu587Phe) c.1213C>T (p.Leu405Phe)
2	g.168944877G>C	CA349127400	ABCB11	c.745C>G (p.Leu249Val) c.2428C>G (p.Leu810Val) c.1117C>G (n.1117C>G) c.2470C>G (p.Leu824Val) c.2530C>G (p.Leu844Val) c.754C>G (p.Leu252Val) c.1759C>G (p.Leu587Val) c.1213C>G (p.Leu405Val)
2	g.168944877G>T	CA349127406	ABCB11	c.745C>A (p.Leu249Ile) c.2428C>A (p.Leu810Ile) c.1117C>A (n.1117C>A) c.2470C>A (p.Leu824Ile) c.2530C>A (p.Leu844Ile) c.754C>A (p.Leu252Ile) c.1759C>A (p.Leu587Ile) c.1213C>A (p.Leu405Ile)	gnomAD v4
2	g.168944878A>C	CA429985371	ABCB11	c.744T>G (p.Ser248=) c.2427T>G (p.Ser809=) c.1116T>G (n.1116T>G) c.2469T>G (p.Ser823=) c.2529T>G (p.Ser843=) c.753T>G (p.Ser251=) c.1758T>G (p.Ser586=) c.1212T>G (p.Ser404=)
2	g.168944878A>G	CA429985372	ABCB11	c.744T>C (p.Ser248=) c.2427T>C (p.Ser809=) c.1116T>C (n.1116T>C) c.2469T>C (p.Ser823=) c.2529T>C (p.Ser843=) c.753T>C (p.Ser251=) c.1758T>C (p.Ser586=) c.1212T>C (p.Ser404=)
2	g.168944878A>T	CA429985370	ABCB11	c.744T>A (p.Ser248=) c.2427T>A (p.Ser809=) c.1116T>A (n.1116T>A) c.2469T>A (p.Ser823=) c.2529T>A (p.Ser843=) c.753T>A (p.Ser251=) c.1758T>A (p.Ser586=) c.1212T>A (p.Ser404=)
2	g.168944879G>A	CA1951286	ABCB11	c.743C>T (p.Ser248Phe) c.2426C>T (p.Ser809Phe) c.1115C>T (n.1115C>T) c.2468C>T (p.Ser823Phe) c.2528C>T (p.Ser843Phe) c.752C>T (p.Ser251Phe) c.1757C>T (p.Ser586Phe) c.1211C>T (p.Ser404Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.168944879G>C	CA349127412	ABCB11	c.743C>G (p.Ser248Cys) c.2426C>G (p.Ser809Cys) c.1115C>G (n.1115C>G) c.2468C>G (p.Ser823Cys) c.2528C>G (p.Ser843Cys) c.752C>G (p.Ser251Cys) c.1757C>G (p.Ser586Cys) c.1211C>G (p.Ser404Cys)
2	g.168944879G=	CA1306207348	ABCB11	c.743C= (p.Ser248=) c.2426C= (p.Ser809=) c.1115C= (n.1115C=) c.2468C= (p.Ser823=) c.2528C= (p.Ser843=) c.752C= (p.Ser251=) c.1757C= (p.Ser586=) c.1211C= (p.Ser404=)
2	g.168944879G>T	CA349127413	ABCB11	c.743C>A (p.Ser248Tyr) c.2426C>A (p.Ser809Tyr) c.1115C>A (n.1115C>A) c.2468C>A (p.Ser823Tyr) c.2528C>A (p.Ser843Tyr) c.752C>A (p.Ser251Tyr) c.1757C>A (p.Ser586Tyr) c.1211C>A (p.Ser404Tyr)	gnomAD v4
2	g.168944880A=	CA1306207352	ABCB11	c.742T= (p.Ser248=) c.2425T= (p.Ser809=) c.1114T= (n.1114T=) c.2467T= (p.Ser823=) c.2527T= (p.Ser843=) c.751T= (p.Ser251=) c.1756T= (p.Ser586=) c.1210T= (p.Ser404=)
2	g.168944880A>C	CA349127421	ABCB11	c.742T>G (p.Ser248Ala) c.2425T>G (p.Ser809Ala) c.1114T>G (n.1114T>G) c.2467T>G (p.Ser823Ala) c.2527T>G (p.Ser843Ala) c.751T>G (p.Ser251Ala) c.1756T>G (p.Ser586Ala) c.1210T>G (p.Ser404Ala)
2	g.168944880A>G	CA349127415	ABCB11	c.742T>C (p.Ser248Pro) c.2425T>C (p.Ser809Pro) c.1114T>C (n.1114T>C) c.2467T>C (p.Ser823Pro) c.2527T>C (p.Ser843Pro) c.751T>C (p.Ser251Pro) c.1756T>C (p.Ser586Pro) c.1210T>C (p.Ser404Pro)	dbSNP gnomAD v3 gnomAD v4
2	g.168944880A>T	CA349127419	ABCB11	c.742T>A (p.Ser248Thr) c.2425T>A (p.Ser809Thr) c.1114T>A (n.1114T>A) c.2467T>A (p.Ser823Thr) c.2527T>A (p.Ser843Thr) c.751T>A (p.Ser251Thr) c.1756T>A (p.Ser586Thr) c.1210T>A (p.Ser404Thr)
2	g.168944881T>A	CA429985381	ABCB11	c.741A>T (p.Val247=) c.2424A>T (p.Val808=) c.1113A>T (n.1113A>T) c.2466A>T (p.Val822=) c.2526A>T (p.Val842=) c.750A>T (p.Val250=) c.1755A>T (p.Val585=) c.1209A>T (p.Val403=)	dbSNP gnomAD v2 gnomAD v4
2	g.168944881T>C	CA429985380	ABCB11	c.741A>G (p.Val247=) c.2424A>G (p.Val808=) c.1113A>G (n.1113A>G) c.2466A>G (p.Val822=) c.2526A>G (p.Val842=) c.750A>G (p.Val250=) c.1755A>G (p.Val585=) c.1209A>G (p.Val403=)	gnomAD v4
2	g.168944881T>G	CA429985379	ABCB11	c.741A>C (p.Val247=) c.2424A>C (p.Val808=) c.1113A>C (n.1113A>C) c.2466A>C (p.Val822=) c.2526A>C (p.Val842=) c.750A>C (p.Val250=) c.1755A>C (p.Val585=) c.1209A>C (p.Val403=)
2	g.168944881T=	CA1306207355	ABCB11	c.741A= (p.Val247=) c.2424A= (p.Val808=) c.1113A= (n.1113A=) c.2466A= (p.Val822=) c.2526A= (p.Val842=) c.750A= (p.Val250=) c.1755A= (p.Val585=) c.1209A= (p.Val403=)
2	g.168944882A=	CA1306207358	ABCB11	c.740T= (p.Val247=) c.2423T= (p.Val808=) c.1112T= (n.1112T=) c.2465T= (p.Val822=) c.2525T= (p.Val842=) c.749T= (p.Val250=) c.1754T= (p.Val585=) c.1208T= (p.Val403=)
2	g.168944882A>C	CA349127425	ABCB11	c.740T>G (p.Val247Gly) c.2423T>G (p.Val808Gly) c.1112T>G (n.1112T>G) c.2465T>G (p.Val822Gly) c.2525T>G (p.Val842Gly) c.749T>G (p.Val250Gly) c.1754T>G (p.Val585Gly) c.1208T>G (p.Val403Gly)
2	g.168944882A>G	CA1951287	ABCB11	c.740T>C (p.Val247Ala) c.2423T>C (p.Val808Ala) c.1112T>C (n.1112T>C) c.2465T>C (p.Val822Ala) c.2525T>C (p.Val842Ala) c.749T>C (p.Val250Ala) c.1754T>C (p.Val585Ala) c.1208T>C (p.Val403Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.168944882A>T	CA349127440	ABCB11	c.740T>A (p.Val247Glu) c.2423T>A (p.Val808Glu) c.1112T>A (n.1112T>A) c.2465T>A (p.Val822Glu) c.2525T>A (p.Val842Glu) c.749T>A (p.Val250Glu) c.1754T>A (p.Val585Glu) c.1208T>A (p.Val403Glu)
2	g.168944883C>A	CA349127444	ABCB11	c.739G>T (p.Val247Leu) c.2422G>T (p.Val808Leu) c.1111G>T (n.1111G>T) c.2464G>T (p.Val822Leu) c.2524G>T (p.Val842Leu) c.748G>T (p.Val250Leu) c.1753G>T (p.Val585Leu) c.1207G>T (p.Val403Leu)	gnomAD v4
2	g.168944883C>G	CA349127448	ABCB11	c.739G>C (p.Val247Leu) c.2422G>C (p.Val808Leu) c.1111G>C (n.1111G>C) c.2464G>C (p.Val822Leu) c.2524G>C (p.Val842Leu) c.748G>C (p.Val250Leu) c.1753G>C (p.Val585Leu) c.1207G>C (p.Val403Leu)
2	g.168944883C>T	CA349127449	ABCB11	c.739G>A (p.Val247Ile) c.2422G>A (p.Val808Ile) c.1111G>A (n.1111G>A) c.2464G>A (p.Val822Ile) c.2524G>A (p.Val842Ile) c.748G>A (p.Val250Ile) c.1753G>A (p.Val585Ile) c.1207G>A (p.Val403Ile)	gnomAD v4
2	g.168944884A>C	CA349127465	ABCB11	c.738T>G (p.Cys246Trp) c.2421T>G (p.Cys807Trp) c.1110T>G (n.1110T>G) c.2463T>G (p.Cys821Trp) c.2523T>G (p.Cys841Trp) c.747T>G (p.Cys249Trp) c.1752T>G (p.Cys584Trp) c.1206T>G (p.Cys402Trp)
2	g.168944884A>G	CA429985392	ABCB11	c.738T>C (p.Cys246=) c.2421T>C (p.Cys807=) c.1110T>C (n.1110T>C) c.2463T>C (p.Cys821=) c.2523T>C (p.Cys841=) c.747T>C (p.Cys249=) c.1752T>C (p.Cys584=) c.1206T>C (p.Cys402=)
2	g.168944884A>T	CA349127467	ABCB11	c.738T>A (p.Cys246Ter) c.2421T>A (p.Cys807Ter) c.1110T>A (n.1110T>A) c.2463T>A (p.Cys821Ter) c.2523T>A (p.Cys841Ter) c.747T>A (p.Cys249Ter) c.1752T>A (p.Cys584Ter) c.1206T>A (p.Cys402Ter)
2	g.168944885C>A	CA349127484	ABCB11	c.737G>T (p.Cys246Phe) c.2420G>T (p.Cys807Phe) c.1109G>T (n.1109G>T) c.2462G>T (p.Cys821Phe) c.2522G>T (p.Cys841Phe) c.746G>T (p.Cys249Phe) c.1751G>T (p.Cys584Phe) c.1205G>T (p.Cys402Phe)	gnomAD v4
2	g.168944885C>G	CA349127486	ABCB11	c.737G>C (p.Cys246Ser) c.2420G>C (p.Cys807Ser) c.1109G>C (n.1109G>C) c.2462G>C (p.Cys821Ser) c.2522G>C (p.Cys841Ser) c.746G>C (p.Cys249Ser) c.1751G>C (p.Cys584Ser) c.1205G>C (p.Cys402Ser)
2	g.168944885C>T	CA349127488	ABCB11	c.737G>A (p.Cys246Tyr) c.2420G>A (p.Cys807Tyr) c.1109G>A (n.1109G>A) c.2462G>A (p.Cys821Tyr) c.2522G>A (p.Cys841Tyr) c.746G>A (p.Cys249Tyr) c.1751G>A (p.Cys584Tyr) c.1205G>A (p.Cys402Tyr)	gnomAD v4
2	g.168944886A>C	CA349127510	ABCB11	c.736T>G (p.Cys246Gly) c.2419T>G (p.Cys807Gly) c.1108T>G (n.1108T>G) c.2461T>G (p.Cys821Gly) c.2521T>G (p.Cys841Gly) c.745T>G (p.Cys249Gly) c.1750T>G (p.Cys584Gly) c.1204T>G (p.Cys402Gly)
2	g.168944886A>G	CA349127494	ABCB11	c.736T>C (p.Cys246Arg) c.2419T>C (p.Cys807Arg) c.1108T>C (n.1108T>C) c.2461T>C (p.Cys821Arg) c.2521T>C (p.Cys841Arg) c.745T>C (p.Cys249Arg) c.1750T>C (p.Cys584Arg) c.1204T>C (p.Cys402Arg)	gnomAD v4
2	g.168944886A>T	CA349127493	ABCB11	c.736T>A (p.Cys246Ser) c.2419T>A (p.Cys807Ser) c.1108T>A (n.1108T>A) c.2461T>A (p.Cys821Ser) c.2521T>A (p.Cys841Ser) c.745T>A (p.Cys249Ser) c.1750T>A (p.Cys584Ser) c.1204T>A (p.Cys402Ser)
2	g.168944887G>A	CA429985397	ABCB11	c.735C>T (p.Gly245=) c.2418C>T (p.Gly806=) c.1107C>T (n.1107C>T) c.2460C>T (p.Gly820=) c.2520C>T (p.Gly840=) c.744C>T (p.Gly248=) c.1749C>T (p.Gly583=) c.1203C>T (p.Gly401=)	ClinVar gnomAD v4
2	g.168944887G>C	CA429985398	ABCB11	c.735C>G (p.Gly245=) c.2418C>G (p.Gly806=) c.1107C>G (n.1107C>G) c.2460C>G (p.Gly820=) c.2520C>G (p.Gly840=) c.744C>G (p.Gly248=) c.1749C>G (p.Gly583=) c.1203C>G (p.Gly401=)
2	g.168944887G>T	CA429985401	ABCB11	c.735C>A (p.Gly245=) c.2418C>A (p.Gly806=) c.1107C>A (n.1107C>A) c.2460C>A (p.Gly820=) c.2520C>A (p.Gly840=) c.744C>A (p.Gly248=) c.1749C>A (p.Gly583=) c.1203C>A (p.Gly401=)	gnomAD v4
2	g.168944888C>A	CA349127522	ABCB11	c.734G>T (p.Gly245Val) c.2417G>T (p.Gly806Val) c.1106G>T (n.1106G>T) c.2459G>T (p.Gly820Val) c.2519G>T (p.Gly840Val) c.743G>T (p.Gly248Val) c.1748G>T (p.Gly583Val) c.1202G>T (p.Gly401Val)	gnomAD v4
2	g.168944888C=	CA1306207363	ABCB11	c.734G= (p.Gly245=) c.2417G= (p.Gly806=) c.1106G= (n.1106G=) c.2459G= (p.Gly820=) c.2519G= (p.Gly840=) c.743G= (p.Gly248=) c.1748G= (p.Gly583=) c.1202G= (p.Gly401=)
2	g.168944888C>G	CA349127512	ABCB11	c.734G>C (p.Gly245Ala) c.2417G>C (p.Gly806Ala) c.1106G>C (n.1106G>C) c.2459G>C (p.Gly820Ala) c.2519G>C (p.Gly840Ala) c.743G>C (p.Gly248Ala) c.1748G>C (p.Gly583Ala) c.1202G>C (p.Gly401Ala)	gnomAD v4
2	g.168944888C>T	CA349127518	ABCB11	c.734G>A (p.Gly245Asp) c.2417G>A (p.Gly806Asp) c.1106G>A (n.1106G>A) c.2459G>A (p.Gly820Asp) c.2519G>A (p.Gly840Asp) c.743G>A (p.Gly248Asp) c.1748G>A (p.Gly583Asp) c.1202G>A (p.Gly401Asp)	dbSNP gnomAD v4
2	g.168944888_168944896del	CA2753094770	ABCB11	c.726_734del (p.Ala243_Gly245del) c.2409_2417del (p.Ala804_Gly806del) c.1098_1106del (n.1098_1106del) c.2451_2459del (p.Ala818_Gly820del) c.2511_2519del (p.Ala838_Gly840del) c.735_743del (p.Ala246_Gly248del) c.1740_1748del (p.Ala581_Gly583del) c.1194_1202del (p.Ala399_Gly401del)
2	g.168944889C>A	CA349127524	ABCB11	c.733G>T (p.Gly245Cys) c.2416G>T (p.Gly806Cys) c.1105G>T (n.1105G>T) c.2458G>T (p.Gly820Cys) c.2518G>T (p.Gly840Cys) c.742G>T (p.Gly248Cys) c.1747G>T (p.Gly583Cys) c.1201G>T (p.Gly401Cys)	gnomAD v4
2	g.168944889C>G	CA349127532	ABCB11	c.733G>C (p.Gly245Arg) c.2416G>C (p.Gly806Arg) c.1105G>C (n.1105G>C) c.2458G>C (p.Gly820Arg) c.2518G>C (p.Gly840Arg) c.742G>C (p.Gly248Arg) c.1747G>C (p.Gly583Arg) c.1201G>C (p.Gly401Arg)
2	g.168944889C>T	CA349127535	ABCB11	c.733G>A (p.Gly245Ser) c.2416G>A (p.Gly806Ser) c.1105G>A (n.1105G>A) c.2458G>A (p.Gly820Ser) c.2518G>A (p.Gly840Ser) c.742G>A (p.Gly248Ser) c.1747G>A (p.Gly583Ser) c.1201G>A (p.Gly401Ser)	gnomAD v4
2	g.168944890C>A	CA349127538	ABCB11	c.732G>T (p.Met244Ile) c.2415G>T (p.Met805Ile) c.1104G>T (n.1104G>T) c.2457G>T (p.Met819Ile) c.2517G>T (p.Met839Ile) c.741G>T (p.Met247Ile) c.1746G>T (p.Met582Ile) c.1200G>T (p.Met400Ile)	gnomAD v4
2	g.168944890C>G	CA349127539	ABCB11	c.732G>C (p.Met244Ile) c.2415G>C (p.Met805Ile) c.1104G>C (n.1104G>C) c.2457G>C (p.Met819Ile) c.2517G>C (p.Met839Ile) c.741G>C (p.Met247Ile) c.1746G>C (p.Met582Ile) c.1200G>C (p.Met400Ile)
2	g.168944890C>T	CA349127541	ABCB11	c.732G>A (p.Met244Ile) c.2415G>A (p.Met805Ile) c.1104G>A (n.1104G>A) c.2457G>A (p.Met819Ile) c.2517G>A (p.Met839Ile) c.741G>A (p.Met247Ile) c.1746G>A (p.Met582Ile) c.1200G>A (p.Met400Ile)	gnomAD v4
2	g.168944891A>C	CA349127544	ABCB11	c.731T>G (p.Met244Arg) c.2414T>G (p.Met805Arg) c.1103T>G (n.1103T>G) c.2456T>G (p.Met819Arg) c.2516T>G (p.Met839Arg) c.740T>G (p.Met247Arg) c.1745T>G (p.Met582Arg) c.1199T>G (p.Met400Arg)	gnomAD v4
2	g.168944891A>G	CA349127548	ABCB11	c.731T>C (p.Met244Thr) c.2414T>C (p.Met805Thr) c.1103T>C (n.1103T>C) c.2456T>C (p.Met819Thr) c.2516T>C (p.Met839Thr) c.740T>C (p.Met247Thr) c.1745T>C (p.Met582Thr) c.1199T>C (p.Met400Thr)
2	g.168944891A>T	CA349127551	ABCB11	c.731T>A (p.Met244Lys) c.2414T>A (p.Met805Lys) c.1103T>A (n.1103T>A) c.2456T>A (p.Met819Lys) c.2516T>A (p.Met839Lys) c.740T>A (p.Met247Lys) c.1745T>A (p.Met582Lys) c.1199T>A (p.Met400Lys)
2	g.168944892T>A	CA349127556	ABCB11	c.730A>T (p.Met244Leu) c.2413A>T (p.Met805Leu) c.1102A>T (n.1102A>T) c.2455A>T (p.Met819Leu) c.2515A>T (p.Met839Leu) c.739A>T (p.Met247Leu) c.1744A>T (p.Met582Leu) c.1198A>T (p.Met400Leu)	gnomAD v4
2	g.168944892T>C	CA349127570	ABCB11	c.730A>G (p.Met244Val) c.2413A>G (p.Met805Val) c.1102A>G (n.1102A>G) c.2455A>G (p.Met819Val) c.2515A>G (p.Met839Val) c.739A>G (p.Met247Val) c.1744A>G (p.Met582Val) c.1198A>G (p.Met400Val)	ClinVar dbSNP gnomAD v4
2	g.168944892T>G	CA349127571	ABCB11	c.730A>C (p.Met244Leu) c.2413A>C (p.Met805Leu) c.1102A>C (n.1102A>C) c.2455A>C (p.Met819Leu) c.2515A>C (p.Met839Leu) c.739A>C (p.Met247Leu) c.1744A>C (p.Met582Leu) c.1198A>C (p.Met400Leu)
2	g.168944892T=	CA1306207365	ABCB11	c.730A= (p.Met244=) c.2413A= (p.Met805=) c.1102A= (n.1102A=) c.2455A= (p.Met819=) c.2515A= (p.Met839=) c.739A= (p.Met247=) c.1744A= (p.Met582=) c.1198A= (p.Met400=)
2	g.168944893T>A	CA429985410	ABCB11	c.729A>T (p.Ala243=) c.2412A>T (p.Ala804=) c.1101A>T (n.1101A>T) c.2454A>T (p.Ala818=) c.2514A>T (p.Ala838=) c.738A>T (p.Ala246=) c.1743A>T (p.Ala581=) c.1197A>T (p.Ala399=)
2	g.168944893T>C	CA1951288	ABCB11	c.729A>G (p.Ala243=) c.2412A>G (p.Ala804=) c.1101A>G (n.1101A>G) c.2454A>G (p.Ala818=) c.2514A>G (p.Ala838=) c.738A>G (p.Ala246=) c.1743A>G (p.Ala581=) c.1197A>G (p.Ala399=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.168944893T>G	CA429985411	ABCB11	c.729A>C (p.Ala243=) c.2412A>C (p.Ala804=) c.1101A>C (n.1101A>C) c.2454A>C (p.Ala818=) c.2514A>C (p.Ala838=) c.738A>C (p.Ala246=) c.1743A>C (p.Ala581=) c.1197A>C (p.Ala399=)
2	g.168944893T=	CA1306207372	ABCB11	c.729A= (p.Ala243=) c.2412A= (p.Ala804=) c.1101A= (n.1101A=) c.2454A= (p.Ala818=) c.2514A= (p.Ala838=) c.738A= (p.Ala246=) c.1743A= (p.Ala581=) c.1197A= (p.Ala399=)
2	g.168944894G>A	CA349127573	ABCB11	c.728C>T (p.Ala243Val) c.2411C>T (p.Ala804Val) c.1100C>T (n.1100C>T) c.2453C>T (p.Ala818Val) c.2513C>T (p.Ala838Val) c.737C>T (p.Ala246Val) c.1742C>T (p.Ala581Val) c.1196C>T (p.Ala399Val)	dbSNP gnomAD v2 gnomAD v4
2	g.168944894G>C	CA349127575	ABCB11	c.728C>G (p.Ala243Gly) c.2411C>G (p.Ala804Gly) c.1100C>G (n.1100C>G) c.2453C>G (p.Ala818Gly) c.2513C>G (p.Ala838Gly) c.737C>G (p.Ala246Gly) c.1742C>G (p.Ala581Gly) c.1196C>G (p.Ala399Gly)
2	g.168944894G=	CA1306207376	ABCB11	c.728C= (p.Ala243=) c.2411C= (p.Ala804=) c.1100C= (n.1100C=) c.2453C= (p.Ala818=) c.2513C= (p.Ala838=) c.737C= (p.Ala246=) c.1742C= (p.Ala581=) c.1196C= (p.Ala399=)
2	g.168944894G>T	CA349127577	ABCB11	c.728C>A (p.Ala243Glu) c.2411C>A (p.Ala804Glu) c.1100C>A (n.1100C>A) c.2453C>A (p.Ala818Glu) c.2513C>A (p.Ala838Glu) c.737C>A (p.Ala246Glu) c.1742C>A (p.Ala581Glu) c.1196C>A (p.Ala399Glu)	gnomAD v4
2	g.168944895C>A	CA349127583	ABCB11	c.727G>T (p.Ala243Ser) c.2410G>T (p.Ala804Ser) c.1099G>T (n.1099G>T) c.2452G>T (p.Ala818Ser) c.2512G>T (p.Ala838Ser) c.736G>T (p.Ala246Ser) c.1741G>T (p.Ala581Ser) c.1195G>T (p.Ala399Ser)	gnomAD v4
2	g.168944895C>G	CA349127585	ABCB11	c.727G>C (p.Ala243Pro) c.2410G>C (p.Ala804Pro) c.1099G>C (n.1099G>C) c.2452G>C (p.Ala818Pro) c.2512G>C (p.Ala838Pro) c.736G>C (p.Ala246Pro) c.1741G>C (p.Ala581Pro) c.1195G>C (p.Ala399Pro)
2	g.168944895C>T	CA349127587	ABCB11	c.727G>A (p.Ala243Thr) c.2410G>A (p.Ala804Thr) c.1099G>A (n.1099G>A) c.2452G>A (p.Ala818Thr) c.2512G>A (p.Ala838Thr) c.736G>A (p.Ala246Thr) c.1741G>A (p.Ala581Thr) c.1195G>A (p.Ala399Thr)	gnomAD v4
2	g.168944896T>A	CA429985415	ABCB11	c.726A>T (p.Val242=) c.2409A>T (p.Val803=) c.1098A>T (n.1098A>T) c.2451A>T (p.Val817=) c.2511A>T (p.Val837=) c.735A>T (p.Val245=) c.1740A>T (p.Val580=) c.1194A>T (p.Val398=)	gnomAD v4
2	g.168944896T>C	CA429985416	ABCB11	c.726A>G (p.Val242=) c.2409A>G (p.Val803=) c.1098A>G (n.1098A>G) c.2451A>G (p.Val817=) c.2511A>G (p.Val837=) c.735A>G (p.Val245=) c.1740A>G (p.Val580=) c.1194A>G (p.Val398=)	ClinVar gnomAD v4
2	g.168944896T>G	CA429985418	ABCB11	c.726A>C (p.Val242=) c.2409A>C (p.Val803=) c.1098A>C (n.1098A>C) c.2451A>C (p.Val817=) c.2511A>C (p.Val837=) c.735A>C (p.Val245=) c.1740A>C (p.Val580=) c.1194A>C (p.Val398=)
2	g.168944897A>C	CA349127594	ABCB11	c.725T>G (p.Val242Gly) c.2408T>G (p.Val803Gly) c.1097T>G (n.1097T>G) c.2450T>G (p.Val817Gly) c.2510T>G (p.Val837Gly) c.734T>G (p.Val245Gly) c.1739T>G (p.Val580Gly) c.1193T>G (p.Val398Gly)
2	g.168944897A>G	CA349127600	ABCB11	c.725T>C (p.Val242Ala) c.2408T>C (p.Val803Ala) c.1097T>C (n.1097T>C) c.2450T>C (p.Val817Ala) c.2510T>C (p.Val837Ala) c.734T>C (p.Val245Ala) c.1739T>C (p.Val580Ala) c.1193T>C (p.Val398Ala)
2	g.168944897A>T	CA349127602	ABCB11	c.725T>A (p.Val242Glu) c.2408T>A (p.Val803Glu) c.1097T>A (n.1097T>A) c.2450T>A (p.Val817Glu) c.2510T>A (p.Val837Glu) c.734T>A (p.Val245Glu) c.1739T>A (p.Val580Glu) c.1193T>A (p.Val398Glu)
2	g.168944898C>A	CA349127605	ABCB11	c.724G>T (p.Val242Leu) c.2407G>T (p.Val803Leu) c.1096G>T (n.1096G>T) c.2449G>T (p.Val817Leu) c.2509G>T (p.Val837Leu) c.733G>T (p.Val245Leu) c.1738G>T (p.Val580Leu) c.1192G>T (p.Val398Leu)	gnomAD v4
2	g.168944898C>G	CA349127606	ABCB11	c.724G>C (p.Val242Leu) c.2407G>C (p.Val803Leu) c.1096G>C (n.1096G>C) c.2449G>C (p.Val817Leu) c.2509G>C (p.Val837Leu) c.733G>C (p.Val245Leu) c.1738G>C (p.Val580Leu) c.1192G>C (p.Val398Leu)
2	g.168944898C>T	CA349127608	ABCB11	c.724G>A (p.Val242Ile) c.2407G>A (p.Val803Ile) c.1096G>A (n.1096G>A) c.2449G>A (p.Val817Ile) c.2509G>A (p.Val837Ile) c.733G>A (p.Val245Ile) c.1738G>A (p.Val580Ile) c.1192G>A (p.Val398Ile)
2	g.168944899A=	CA1306207380	ABCB11	c.723T= (p.Phe241=) c.2406T= (p.Phe802=) c.1095T= (n.1095T=) c.2448T= (p.Phe816=) c.2508T= (p.Phe836=) c.732T= (p.Phe244=) c.1737T= (p.Phe579=) c.1191T= (p.Phe397=)
2	g.168944899A>C	CA59881000	ABCB11	c.723T>G (p.Phe241Leu) c.2406T>G (p.Phe802Leu) c.1095T>G (n.1095T>G) c.2448T>G (p.Phe816Leu) c.2508T>G (p.Phe836Leu) c.732T>G (p.Phe244Leu) c.1737T>G (p.Phe579Leu) c.1191T>G (p.Phe397Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.168944899A>G	CA429985421	ABCB11	c.723T>C (p.Phe241=) c.2406T>C (p.Phe802=) c.1095T>C (n.1095T>C) c.2448T>C (p.Phe816=) c.2508T>C (p.Phe836=) c.732T>C (p.Phe244=) c.1737T>C (p.Phe579=) c.1191T>C (p.Phe397=)
2	g.168944899A>T	CA349127610	ABCB11	c.723T>A (p.Phe241Leu) c.2406T>A (p.Phe802Leu) c.1095T>A (n.1095T>A) c.2448T>A (p.Phe816Leu) c.2508T>A (p.Phe836Leu) c.732T>A (p.Phe244Leu) c.1737T>A (p.Phe579Leu) c.1191T>A (p.Phe397Leu)
2	g.168944903del	CA2661805177	ABCB11	c.723del (p.Phe241LeufsTer2) c.2406del (p.Phe802LeufsTer2) c.1095del (n.1095del) c.2448del (p.Phe816LeufsTer2) c.2508del (p.Phe836LeufsTer2) c.732del (p.Phe244LeufsTer2) c.1737del (p.Phe579LeufsTer2) c.1191del (p.Phe397LeufsTer2)	gnomAD v4
2	g.168944899_168944904del	CA2661805178	ABCB11	c.718_723del (p.Leu240_Phe241del) c.2401_2406del (p.Leu801_Phe802del) c.1090_1095del (n.1090_1095del) c.2443_2448del (p.Leu815_Phe816del) c.2503_2508del (p.Leu835_Phe836del) c.727_732del (p.Leu243_Phe244del) c.1732_1737del (p.Leu578_Phe579del) c.1186_1191del (p.Leu396_Phe397del)	gnomAD v4
2	g.168944900A>C	CA349127612	ABCB11	c.722T>G (p.Phe241Cys) c.2405T>G (p.Phe802Cys) c.1094T>G (n.1094T>G) c.2447T>G (p.Phe816Cys) c.2507T>G (p.Phe836Cys) c.731T>G (p.Phe244Cys) c.1736T>G (p.Phe579Cys) c.1190T>G (p.Phe397Cys)
2	g.168944900A>G	CA349127613	ABCB11	c.722T>C (p.Phe241Ser) c.2405T>C (p.Phe802Ser) c.1094T>C (n.1094T>C) c.2447T>C (p.Phe816Ser) c.2507T>C (p.Phe836Ser) c.731T>C (p.Phe244Ser) c.1736T>C (p.Phe579Ser) c.1190T>C (p.Phe397Ser)	gnomAD v4
2	g.168944900A>T	CA349127611	ABCB11	c.722T>A (p.Phe241Tyr) c.2405T>A (p.Phe802Tyr) c.1094T>A (n.1094T>A) c.2447T>A (p.Phe816Tyr) c.2507T>A (p.Phe836Tyr) c.731T>A (p.Phe244Tyr) c.1736T>A (p.Phe579Tyr) c.1190T>A (p.Phe397Tyr)
2	g.168944901A>C	CA349127616	ABCB11	c.721T>G (p.Phe241Val) c.2404T>G (p.Phe802Val) c.1093T>G (n.1093T>G) c.2446T>G (p.Phe816Val) c.2506T>G (p.Phe836Val) c.730T>G (p.Phe244Val) c.1735T>G (p.Phe579Val) c.1189T>G (p.Phe397Val)
2	g.168944901A>G	CA349127620	ABCB11	c.721T>C (p.Phe241Leu) c.2404T>C (p.Phe802Leu) c.1093T>C (n.1093T>C) c.2446T>C (p.Phe816Leu) c.2506T>C (p.Phe836Leu) c.730T>C (p.Phe244Leu) c.1735T>C (p.Phe579Leu) c.1189T>C (p.Phe397Leu)	gnomAD v4
2	g.168944901A>T	CA349127619	ABCB11	c.721T>A (p.Phe241Ile) c.2404T>A (p.Phe802Ile) c.1093T>A (n.1093T>A) c.2446T>A (p.Phe816Ile) c.2506T>A (p.Phe836Ile) c.730T>A (p.Phe244Ile) c.1735T>A (p.Phe579Ile) c.1189T>A (p.Phe397Ile)
2	g.168944902A=	CA1306207383	ABCB11	c.720T= (p.Leu240=) c.2403T= (p.Leu801=) c.1092T= (n.1092T=) c.2445T= (p.Leu815=) c.2505T= (p.Leu835=) c.729T= (p.Leu243=) c.1734T= (p.Leu578=) c.1188T= (p.Leu396=)
2	g.168944902A>C	CA429985423	ABCB11	c.720T>G (p.Leu240=) c.2403T>G (p.Leu801=) c.1092T>G (n.1092T>G) c.2445T>G (p.Leu815=) c.2505T>G (p.Leu835=) c.729T>G (p.Leu243=) c.1734T>G (p.Leu578=) c.1188T>G (p.Leu396=)
2	g.168944902A>G	CA429985425	ABCB11	c.720T>C (p.Leu240=) c.2403T>C (p.Leu801=) c.1092T>C (n.1092T>C) c.2445T>C (p.Leu815=) c.2505T>C (p.Leu835=) c.729T>C (p.Leu243=) c.1734T>C (p.Leu578=) c.1188T>C (p.Leu396=)	dbSNP gnomAD v2
2	g.168944902A>T	CA429985427	ABCB11	c.720T>A (p.Leu240=) c.2403T>A (p.Leu801=) c.1092T>A (n.1092T>A) c.2445T>A (p.Leu815=) c.2505T>A (p.Leu835=) c.729T>A (p.Leu243=) c.1734T>A (p.Leu578=) c.1188T>A (p.Leu396=)
2	g.168944903A=	CA1306207385	ABCB11	c.719T= (p.Leu240=) c.2402T= (p.Leu801=) c.1091T= (n.1091T=) c.2444T= (p.Leu815=) c.2504T= (p.Leu835=) c.728T= (p.Leu243=) c.1733T= (p.Leu578=) c.1187T= (p.Leu396=)
2	g.168944903A>C	CA1951289	ABCB11	c.719T>G (p.Leu240Arg) c.2402T>G (p.Leu801Arg) c.1091T>G (n.1091T>G) c.2444T>G (p.Leu815Arg) c.2504T>G (p.Leu835Arg) c.728T>G (p.Leu243Arg) c.1733T>G (p.Leu578Arg) c.1187T>G (p.Leu396Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.168944903A>G	CA349127624	ABCB11	c.719T>C (p.Leu240Pro) c.2402T>C (p.Leu801Pro) c.1091T>C (n.1091T>C) c.2444T>C (p.Leu815Pro) c.2504T>C (p.Leu835Pro) c.728T>C (p.Leu243Pro) c.1733T>C (p.Leu578Pro) c.1187T>C (p.Leu396Pro)
2	g.168944903A>T	CA349127622	ABCB11	c.719T>A (p.Leu240His) c.2402T>A (p.Leu801His) c.1091T>A (n.1091T>A) c.2444T>A (p.Leu815His) c.2504T>A (p.Leu835His) c.728T>A (p.Leu243His) c.1733T>A (p.Leu578His) c.1187T>A (p.Leu396His)
2	g.168944904G>A	CA349127626	ABCB11	c.718C>T (p.Leu240Phe) c.2401C>T (p.Leu801Phe) c.1090C>T (n.1090C>T) c.2443C>T (p.Leu815Phe) c.2503C>T (p.Leu835Phe) c.727C>T (p.Leu243Phe) c.1732C>T (p.Leu578Phe) c.1186C>T (p.Leu396Phe)	gnomAD v4
2	g.168944904G>C	CA349127629	ABCB11	c.718C>G (p.Leu240Val) c.2401C>G (p.Leu801Val) c.1090C>G (n.1090C>G) c.2443C>G (p.Leu815Val) c.2503C>G (p.Leu835Val) c.727C>G (p.Leu243Val) c.1732C>G (p.Leu578Val) c.1186C>G (p.Leu396Val)
2	g.168944904G>T	CA349127637	ABCB11	c.718C>A (p.Leu240Ile) c.2401C>A (p.Leu801Ile) c.1090C>A (n.1090C>A) c.2443C>A (p.Leu815Ile) c.2503C>A (p.Leu835Ile) c.727C>A (p.Leu243Ile) c.1732C>A (p.Leu578Ile) c.1186C>A (p.Leu396Ile)	gnomAD v4
2	g.168944905T>A	CA429985428	ABCB11	c.717A>T (p.Leu239=) c.2400A>T (p.Leu800=) c.1089A>T (n.1089A>T) c.2442A>T (p.Leu814=) c.2502A>T (p.Leu834=) c.726A>T (p.Leu242=) c.1731A>T (p.Leu577=) c.1185A>T (p.Leu395=)
2	g.168944905T>C	CA429985429	ABCB11	c.717A>G (p.Leu239=) c.2400A>G (p.Leu800=) c.1089A>G (n.1089A>G) c.2442A>G (p.Leu814=) c.2502A>G (p.Leu834=) c.726A>G (p.Leu242=) c.1731A>G (p.Leu577=) c.1185A>G (p.Leu395=)
2	g.168944905T>G	CA429985431	ABCB11	c.717A>C (p.Leu239=) c.2400A>C (p.Leu800=) c.1089A>C (n.1089A>C) c.2442A>C (p.Leu814=) c.2502A>C (p.Leu834=) c.726A>C (p.Leu242=) c.1731A>C (p.Leu577=) c.1185A>C (p.Leu395=)
2	g.168944906A>C	CA349127638	ABCB11	c.716T>G (p.Leu239Arg) c.2399T>G (p.Leu800Arg) c.1088T>G (n.1088T>G) c.2441T>G (p.Leu814Arg) c.2501T>G (p.Leu834Arg) c.725T>G (p.Leu242Arg) c.1730T>G (p.Leu577Arg) c.1184T>G (p.Leu395Arg)
2	g.168944906A>G	CA349127641	ABCB11	c.716T>C (p.Leu239Pro) c.2399T>C (p.Leu800Pro) c.1088T>C (n.1088T>C) c.2441T>C (p.Leu814Pro) c.2501T>C (p.Leu834Pro) c.725T>C (p.Leu242Pro) c.1730T>C (p.Leu577Pro) c.1184T>C (p.Leu395Pro)	gnomAD v4 COSMIC COSMIC
2	g.168944906A>T	CA349127643	ABCB11	c.716T>A (p.Leu239Gln) c.2399T>A (p.Leu800Gln) c.1088T>A (n.1088T>A) c.2441T>A (p.Leu814Gln) c.2501T>A (p.Leu834Gln) c.725T>A (p.Leu242Gln) c.1730T>A (p.Leu577Gln) c.1184T>A (p.Leu395Gln)	gnomAD v4
2	g.168944907_168944914del	CA2661805193	ABCB11	c.709_716del (p.Val237ThrfsTer22) c.2392_2399del (p.Val798ThrfsTer22) c.1081_1088del (n.1081_1088del) c.2434_2441del (p.Val812ThrfsTer22) c.2494_2501del (p.Val832ThrfsTer22) c.718_725del (p.Val240ThrfsTer22) c.1723_1730del (p.Val575ThrfsTer22) c.1177_1184del (p.Val393ThrfsTer22)	gnomAD v4
2	g.168944907G>A	CA429985433	ABCB11	c.715C>T (p.Leu239=) c.2398C>T (p.Leu800=) c.1087C>T (n.1087C>T) c.2440C>T (p.Leu814=) c.2500C>T (p.Leu834=) c.724C>T (p.Leu242=) c.1729C>T (p.Leu577=) c.1183C>T (p.Leu395=)
2	g.168944907G>C	CA349127647	ABCB11	c.715C>G (p.Leu239Val) c.2398C>G (p.Leu800Val) c.1087C>G (n.1087C>G) c.2440C>G (p.Leu814Val) c.2500C>G (p.Leu834Val) c.724C>G (p.Leu242Val) c.1729C>G (p.Leu577Val) c.1183C>G (p.Leu395Val)
2	g.168944907G>T	CA349127648	ABCB11	c.715C>A (p.Leu239Ile) c.2398C>A (p.Leu800Ile) c.1087C>A (n.1087C>A) c.2440C>A (p.Leu814Ile) c.2500C>A (p.Leu834Ile) c.724C>A (p.Leu242Ile) c.1729C>A (p.Leu577Ile) c.1183C>A (p.Leu395Ile)	gnomAD v4
2	g.168944908G>A	CA429985434	ABCB11	c.714C>T (p.Cys238=) c.2397C>T (p.Cys799=) c.1086C>T (n.1086C>T) c.2439C>T (p.Cys813=) c.2499C>T (p.Cys833=) c.723C>T (p.Cys241=) c.1728C>T (p.Cys576=) c.1182C>T (p.Cys394=)	gnomAD v4
2	g.168944908G>C	CA349127649	ABCB11	c.714C>G (p.Cys238Trp) c.2397C>G (p.Cys799Trp) c.1086C>G (n.1086C>G) c.2439C>G (p.Cys813Trp) c.2499C>G (p.Cys833Trp) c.723C>G (p.Cys241Trp) c.1728C>G (p.Cys576Trp) c.1182C>G (p.Cys394Trp)
2	g.168944908G>T	CA349127650	ABCB11	c.714C>A (p.Cys238Ter) c.2397C>A (p.Cys799Ter) c.1086C>A (n.1086C>A) c.2439C>A (p.Cys813Ter) c.2499C>A (p.Cys833Ter) c.723C>A (p.Cys241Ter) c.1728C>A (p.Cys576Ter) c.1182C>A (p.Cys394Ter)
2	g.168944909C>A	CA349127654	ABCB11	c.713G>T (p.Cys238Phe) c.2396G>T (p.Cys799Phe) c.1085G>T (n.1085G>T) c.2438G>T (p.Cys813Phe) c.2498G>T (p.Cys833Phe) c.722G>T (p.Cys241Phe) c.1727G>T (p.Cys576Phe) c.1181G>T (p.Cys394Phe)	gnomAD v4
2	g.168944909C>G	CA349127661	ABCB11	c.713G>C (p.Cys238Ser) c.2396G>C (p.Cys799Ser) c.1085G>C (n.1085G>C) c.2438G>C (p.Cys813Ser) c.2498G>C (p.Cys833Ser) c.722G>C (p.Cys241Ser) c.1727G>C (p.Cys576Ser) c.1181G>C (p.Cys394Ser)
2	g.168944909C>T	CA349127663	ABCB11	c.713G>A (p.Cys238Tyr) c.2396G>A (p.Cys799Tyr) c.1085G>A (n.1085G>A) c.2438G>A (p.Cys813Tyr) c.2498G>A (p.Cys833Tyr) c.722G>A (p.Cys241Tyr) c.1727G>A (p.Cys576Tyr) c.1181G>A (p.Cys394Tyr)	dbSNP gnomAD v3 gnomAD v4
2	g.168944910A>C	CA349127675	ABCB11	c.712T>G (p.Cys238Gly) c.2395T>G (p.Cys799Gly) c.1084T>G (n.1084T>G) c.2437T>G (p.Cys813Gly) c.2497T>G (p.Cys833Gly) c.721T>G (p.Cys241Gly) c.1726T>G (p.Cys576Gly) c.1180T>G (p.Cys394Gly)
2	g.168944910A>G	CA349127680	ABCB11	c.712T>C (p.Cys238Arg) c.2395T>C (p.Cys799Arg) c.1084T>C (n.1084T>C) c.2437T>C (p.Cys813Arg) c.2497T>C (p.Cys833Arg) c.721T>C (p.Cys241Arg) c.1726T>C (p.Cys576Arg) c.1180T>C (p.Cys394Arg)	gnomAD v4
2	g.168944910A>T	CA349127679	ABCB11	c.712T>A (p.Cys238Ser) c.2395T>A (p.Cys799Ser) c.1084T>A (n.1084T>A) c.2437T>A (p.Cys813Ser) c.2497T>A (p.Cys833Ser) c.721T>A (p.Cys241Ser) c.1726T>A (p.Cys576Ser) c.1180T>A (p.Cys394Ser)
2	g.168944911C>A	CA429985438	ABCB11	c.711G>T (p.Val237=) c.2394G>T (p.Val798=) c.1083G>T (n.1083G>T) c.2436G>T (p.Val812=) c.2496G>T (p.Val832=) c.720G>T (p.Val240=) c.1725G>T (p.Val575=) c.1179G>T (p.Val393=)	gnomAD v4
2	g.168944911C>G	CA429985440	ABCB11	c.711G>C (p.Val237=) c.2394G>C (p.Val798=) c.1083G>C (n.1083G>C) c.2436G>C (p.Val812=) c.2496G>C (p.Val832=) c.720G>C (p.Val240=) c.1725G>C (p.Val575=) c.1179G>C (p.Val393=)
2	g.168944911C>T	CA429985441	ABCB11	c.711G>A (p.Val237=) c.2394G>A (p.Val798=) c.1083G>A (n.1083G>A) c.2436G>A (p.Val812=) c.2496G>A (p.Val832=) c.720G>A (p.Val240=) c.1725G>A (p.Val575=) c.1179G>A (p.Val393=)	ClinVar dbSNP gnomAD v4
2	g.168944912A>C	CA349127692	ABCB11	c.710T>G (p.Val237Gly) c.2393T>G (p.Val798Gly) c.1082T>G (n.1082T>G) c.2435T>G (p.Val812Gly) c.2495T>G (p.Val832Gly) c.719T>G (p.Val240Gly) c.1724T>G (p.Val575Gly) c.1178T>G (p.Val393Gly)
2	g.168944912A>G	CA349127694	ABCB11	c.710T>C (p.Val237Ala) c.2393T>C (p.Val798Ala) c.1082T>C (n.1082T>C) c.2435T>C (p.Val812Ala) c.2495T>C (p.Val832Ala) c.719T>C (p.Val240Ala) c.1724T>C (p.Val575Ala) c.1178T>C (p.Val393Ala)	gnomAD v4
2	g.168944912A>T	CA349127699	ABCB11	c.710T>A (p.Val237Glu) c.2393T>A (p.Val798Glu) c.1082T>A (n.1082T>A) c.2435T>A (p.Val812Glu) c.2495T>A (p.Val832Glu) c.719T>A (p.Val240Glu) c.1724T>A (p.Val575Glu) c.1178T>A (p.Val393Glu)
2	g.168944913C>A	CA349127703	ABCB11	c.709G>T (p.Val237Leu) c.2392G>T (p.Val798Leu) c.1081G>T (n.1081G>T) c.2434G>T (p.Val812Leu) c.2494G>T (p.Val832Leu) c.718G>T (p.Val240Leu) c.1723G>T (p.Val575Leu) c.1177G>T (p.Val393Leu)	gnomAD v4
2	g.168944913C>G	CA349127705	ABCB11	c.709G>C (p.Val237Leu) c.2392G>C (p.Val798Leu) c.1081G>C (n.1081G>C) c.2434G>C (p.Val812Leu) c.2494G>C (p.Val832Leu) c.718G>C (p.Val240Leu) c.1723G>C (p.Val575Leu) c.1177G>C (p.Val393Leu)
2	g.168944913C>T	CA349127706	ABCB11	c.709G>A (p.Val237Met) c.2392G>A (p.Val798Met) c.1081G>A (n.1081G>A) c.2434G>A (p.Val812Met) c.2494G>A (p.Val832Met) c.718G>A (p.Val240Met) c.1723G>A (p.Val575Met) c.1177G>A (p.Val393Met)	gnomAD v4
2	g.168944914A>C	CA429985442	ABCB11	c.708T>G (p.Gly236=) c.2391T>G (p.Gly797=) c.1080T>G (n.1080T>G) c.2433T>G (p.Gly811=) c.2493T>G (p.Gly831=) c.717T>G (p.Gly239=) c.1722T>G (p.Gly574=) c.1176T>G (p.Gly392=)
2	g.168944914A>G	CA429985443	ABCB11	c.708T>C (p.Gly236=) c.2391T>C (p.Gly797=) c.1080T>C (n.1080T>C) c.2433T>C (p.Gly811=) c.2493T>C (p.Gly831=) c.717T>C (p.Gly239=) c.1722T>C (p.Gly574=) c.1176T>C (p.Gly392=)	gnomAD v4
2	g.168944914A>T	CA429985444	ABCB11	c.708T>A (p.Gly236=) c.2391T>A (p.Gly797=) c.1080T>A (n.1080T>A) c.2433T>A (p.Gly811=) c.2493T>A (p.Gly831=) c.717T>A (p.Gly239=) c.1722T>A (p.Gly574=) c.1176T>A (p.Gly392=)	gnomAD v4
2	g.168944915C>A	CA349127710	ABCB11	c.707G>T (p.Gly236Val) c.2390G>T (p.Gly797Val) c.1079G>T (n.1079G>T) c.2432G>T (p.Gly811Val) c.2492G>T (p.Gly831Val) c.716G>T (p.Gly239Val) c.1721G>T (p.Gly574Val) c.1175G>T (p.Gly392Val)	gnomAD v4
2	g.168944915C>G	CA349127718	ABCB11	c.707G>C (p.Gly236Ala) c.2390G>C (p.Gly797Ala) c.1079G>C (n.1079G>C) c.2432G>C (p.Gly811Ala) c.2492G>C (p.Gly831Ala) c.716G>C (p.Gly239Ala) c.1721G>C (p.Gly574Ala) c.1175G>C (p.Gly392Ala)	gnomAD v4
2	g.168944915C>T	CA349127739	ABCB11	c.707G>A (p.Gly236Asp) c.2390G>A (p.Gly797Asp) c.1079G>A (n.1079G>A) c.2432G>A (p.Gly811Asp) c.2492G>A (p.Gly831Asp) c.716G>A (p.Gly239Asp) c.1721G>A (p.Gly574Asp) c.1175G>A (p.Gly392Asp)	gnomAD v4
2	g.168944916C>A	CA349127758	ABCB11	c.706G>T (p.Gly236Cys) c.2389G>T (p.Gly797Cys) c.1078G>T (n.1078G>T) c.2431G>T (p.Gly811Cys) c.2491G>T (p.Gly831Cys) c.715G>T (p.Gly239Cys) c.1720G>T (p.Gly574Cys) c.1174G>T (p.Gly392Cys)	gnomAD v4
2	g.168944916C>G	CA349127744	ABCB11	c.706G>C (p.Gly236Arg) c.2389G>C (p.Gly797Arg) c.1078G>C (n.1078G>C) c.2431G>C (p.Gly811Arg) c.2491G>C (p.Gly831Arg) c.715G>C (p.Gly239Arg) c.1720G>C (p.Gly574Arg) c.1174G>C (p.Gly392Arg)	gnomAD v4
2	g.168944916C>T	CA349127741	ABCB11	c.706G>A (p.Gly236Ser) c.2389G>A (p.Gly797Ser) c.1078G>A (n.1078G>A) c.2431G>A (p.Gly811Ser) c.2491G>A (p.Gly831Ser) c.715G>A (p.Gly239Ser) c.1720G>A (p.Gly574Ser) c.1174G>A (p.Gly392Ser)	gnomAD v4
2	g.168944917A>C	CA349127764	ABCB11	c.705T>G (p.Asn235Lys) c.2388T>G (p.Asn796Lys) c.1077T>G (n.1077T>G) c.2430T>G (p.Asn810Lys) c.2490T>G (p.Asn830Lys) c.714T>G (p.Asn238Lys) c.1719T>G (p.Asn573Lys) c.1173T>G (p.Asn391Lys)
2	g.168944917A>G	CA429985445	ABCB11	c.705T>C (p.Asn235=) c.2388T>C (p.Asn796=) c.1077T>C (n.1077T>C) c.2430T>C (p.Asn810=) c.2490T>C (p.Asn830=) c.714T>C (p.Asn238=) c.1719T>C (p.Asn573=) c.1173T>C (p.Asn391=)	gnomAD v4
2	g.168944917A>T	CA349127766	ABCB11	c.705T>A (p.Asn235Lys) c.2388T>A (p.Asn796Lys) c.1077T>A (n.1077T>A) c.2430T>A (p.Asn810Lys) c.2490T>A (p.Asn830Lys) c.714T>A (p.Asn238Lys) c.1719T>A (p.Asn573Lys) c.1173T>A (p.Asn391Lys)	gnomAD v4
2	g.168944918T>A	CA349127782	ABCB11	c.704A>T (p.Asn235Ile) c.2387A>T (p.Asn796Ile) c.1076A>T (n.1076A>T) c.2429A>T (p.Asn810Ile) c.2489A>T (p.Asn830Ile) c.713A>T (p.Asn238Ile) c.1718A>T (p.Asn573Ile) c.1172A>T (p.Asn391Ile)
2	g.168944918T>C	CA349127783	ABCB11	c.704A>G (p.Asn235Ser) c.2387A>G (p.Asn796Ser) c.1076A>G (n.1076A>G) c.2429A>G (p.Asn810Ser) c.2489A>G (p.Asn830Ser) c.713A>G (p.Asn238Ser) c.1718A>G (p.Asn573Ser) c.1172A>G (p.Asn391Ser)	gnomAD v4
2	g.168944918T>G	CA349127784	ABCB11	c.704A>C (p.Asn235Thr) c.2387A>C (p.Asn796Thr) c.1076A>C (n.1076A>C) c.2429A>C (p.Asn810Thr) c.2489A>C (p.Asn830Thr) c.713A>C (p.Asn238Thr) c.1718A>C (p.Asn573Thr) c.1172A>C (p.Asn391Thr)
2	g.168944919T>A	CA349127792	ABCB11	c.703A>T (p.Asn235Tyr) c.2386A>T (p.Asn796Tyr) c.1075A>T (n.1075A>T) c.2428A>T (p.Asn810Tyr) c.2488A>T (p.Asn830Tyr) c.712A>T (p.Asn238Tyr) c.1717A>T (p.Asn573Tyr) c.1171A>T (p.Asn391Tyr)
2	g.168944919T>C	CA349127794	ABCB11	c.703A>G (p.Asn235Asp) c.2386A>G (p.Asn796Asp) c.1075A>G (n.1075A>G) c.2428A>G (p.Asn810Asp) c.2488A>G (p.Asn830Asp) c.712A>G (p.Asn238Asp) c.1717A>G (p.Asn573Asp) c.1171A>G (p.Asn391Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.168944919T>G	CA349127797	ABCB11	c.703A>C (p.Asn235His) c.2386A>C (p.Asn796His) c.1075A>C (n.1075A>C) c.2428A>C (p.Asn810His) c.2488A>C (p.Asn830His) c.712A>C (p.Asn238His) c.1717A>C (p.Asn573His) c.1171A>C (p.Asn391His)
2	g.168944919T=	CA1306207388	ABCB11	c.703A= (p.Asn235=) c.2386A= (p.Asn796=) c.1075A= (n.1075A=) c.2428A= (p.Asn810=) c.2488A= (p.Asn830=) c.712A= (p.Asn238=) c.1717A= (p.Asn573=) c.1171A= (p.Asn391=)
2	g.168944920G>A	CA429985449	ABCB11	c.702C>T (p.Ile234=) c.2385C>T (p.Ile795=) c.1074C>T (n.1074C>T) c.2427C>T (p.Ile809=) c.2487C>T (p.Ile829=) c.711C>T (p.Ile237=) c.1716C>T (p.Ile572=) c.1170C>T (p.Ile390=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.168944920G>C	CA349127799	ABCB11	c.702C>G (p.Ile234Met) c.2385C>G (p.Ile795Met) c.1074C>G (n.1074C>G) c.2427C>G (p.Ile809Met) c.2487C>G (p.Ile829Met) c.711C>G (p.Ile237Met) c.1716C>G (p.Ile572Met) c.1170C>G (p.Ile390Met)	gnomAD v4
2	g.168944920G=	CA1306207390	ABCB11	c.702C= (p.Ile234=) c.2385C= (p.Ile795=) c.1074C= (n.1074C=) c.2427C= (p.Ile809=) c.2487C= (p.Ile829=) c.711C= (p.Ile237=) c.1716C= (p.Ile572=) c.1170C= (p.Ile390=)
2	g.168944920G>T	CA429985448	ABCB11	c.702C>A (p.Ile234=) c.2385C>A (p.Ile795=) c.1074C>A (n.1074C>A) c.2427C>A (p.Ile809=) c.2487C>A (p.Ile829=) c.711C>A (p.Ile237=) c.1716C>A (p.Ile572=) c.1170C>A (p.Ile390=)	gnomAD v4
2	g.168944921A=	CA1306207392	ABCB11	c.701T= (p.Ile234=) c.2384T= (p.Ile795=) c.1073T= (n.1073T=) c.2426T= (p.Ile809=) c.2486T= (p.Ile829=) c.710T= (p.Ile237=) c.1715T= (p.Ile572=) c.1169T= (p.Ile390=)
2	g.168944921A>C	CA349127803	ABCB11	c.701T>G (p.Ile234Ser) c.2384T>G (p.Ile795Ser) c.1073T>G (n.1073T>G) c.2426T>G (p.Ile809Ser) c.2486T>G (p.Ile829Ser) c.710T>G (p.Ile237Ser) c.1715T>G (p.Ile572Ser) c.1169T>G (p.Ile390Ser)
2	g.168944921A>G	CA349127809	ABCB11	c.701T>C (p.Ile234Thr) c.2384T>C (p.Ile795Thr) c.1073T>C (n.1073T>C) c.2426T>C (p.Ile809Thr) c.2486T>C (p.Ile829Thr) c.710T>C (p.Ile237Thr) c.1715T>C (p.Ile572Thr) c.1169T>C (p.Ile390Thr)	dbSNP
2	g.168944921A>T	CA349127811	ABCB11	c.701T>A (p.Ile234Asn) c.2384T>A (p.Ile795Asn) c.1073T>A (n.1073T>A) c.2426T>A (p.Ile809Asn) c.2486T>A (p.Ile829Asn) c.710T>A (p.Ile237Asn) c.1715T>A (p.Ile572Asn) c.1169T>A (p.Ile390Asn)	gnomAD v4
2	g.168944922T>A	CA349127820	ABCB11	c.700A>T (p.Ile234Phe) c.2383A>T (p.Ile795Phe) c.1072A>T (n.1072A>T) c.2425A>T (p.Ile809Phe) c.2485A>T (p.Ile829Phe) c.709A>T (p.Ile237Phe) c.1714A>T (p.Ile572Phe) c.1168A>T (p.Ile390Phe)
2	g.168944922T>C	CA349127817	ABCB11	c.700A>G (p.Ile234Val) c.2383A>G (p.Ile795Val) c.1072A>G (n.1072A>G) c.2425A>G (p.Ile809Val) c.2485A>G (p.Ile829Val) c.709A>G (p.Ile237Val) c.1714A>G (p.Ile572Val) c.1168A>G (p.Ile390Val)	gnomAD v4
2	g.168944922T>G	CA349127819	ABCB11	c.700A>C (p.Ile234Leu) c.2383A>C (p.Ile795Leu) c.1072A>C (n.1072A>C) c.2425A>C (p.Ile809Leu) c.2485A>C (p.Ile829Leu) c.709A>C (p.Ile237Leu) c.1714A>C (p.Ile572Leu) c.1168A>C (p.Ile390Leu)
2	g.168944923C>A	CA349127821	ABCB11	c.699G>T (p.Gln233His) c.2382G>T (p.Gln794His) c.1071G>T (n.1071G>T) c.2424G>T (p.Gln808His) c.2484G>T (p.Gln828His) c.708G>T (p.Gln236His) c.1713G>T (p.Gln571His) c.1167G>T (p.Gln389His)	gnomAD v4
2	g.168944923C>G	CA349127822	ABCB11	c.699G>C (p.Gln233His) c.2382G>C (p.Gln794His) c.1071G>C (n.1071G>C) c.2424G>C (p.Gln808His) c.2484G>C (p.Gln828His) c.708G>C (p.Gln236His) c.1713G>C (p.Gln571His) c.1167G>C (p.Gln389His)
2	g.168944923C>T	CA429985453	ABCB11	c.699G>A (p.Gln233=) c.2382G>A (p.Gln794=) c.1071G>A (n.1071G>A) c.2424G>A (p.Gln808=) c.2484G>A (p.Gln828=) c.708G>A (p.Gln236=) c.1713G>A (p.Gln571=) c.1167G>A (p.Gln389=)	gnomAD v4
2	g.168944924T>A	CA349127823	ABCB11	c.698A>T (p.Gln233Leu) c.2381A>T (p.Gln794Leu) c.1070A>T (n.1070A>T) c.2423A>T (p.Gln808Leu) c.2483A>T (p.Gln828Leu) c.707A>T (p.Gln236Leu) c.1712A>T (p.Gln571Leu) c.1166A>T (p.Gln389Leu)
2	g.168944924T>C	CA349127827	ABCB11	c.698A>G (p.Gln233Arg) c.2381A>G (p.Gln794Arg) c.1070A>G (n.1070A>G) c.2423A>G (p.Gln808Arg) c.2483A>G (p.Gln828Arg) c.707A>G (p.Gln236Arg) c.1712A>G (p.Gln571Arg) c.1166A>G (p.Gln389Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.168944924T>G	CA349127830	ABCB11	c.698A>C (p.Gln233Pro) c.2381A>C (p.Gln794Pro) c.1070A>C (n.1070A>C) c.2423A>C (p.Gln808Pro) c.2483A>C (p.Gln828Pro) c.707A>C (p.Gln236Pro) c.1712A>C (p.Gln571Pro) c.1166A>C (p.Gln389Pro)
2	g.168944924T=	CA1306207395	ABCB11	c.698A= (p.Gln233=) c.2381A= (p.Gln794=) c.1070A= (n.1070A=) c.2423A= (p.Gln808=) c.2483A= (p.Gln828=) c.707A= (p.Gln236=) c.1712A= (p.Gln571=) c.1166A= (p.Gln389=)
2	g.168944925G>A	CA16616898	ABCB11	c.697C>T (p.Gln233Ter) c.2380C>T (p.Gln794Ter) c.1069C>T (n.1069C>T) c.2422C>T (p.Gln808Ter) c.2482C>T (p.Gln828Ter) c.706C>T (p.Gln236Ter) c.1711C>T (p.Gln571Ter) c.1165C>T (p.Gln389Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.168944925G>C	CA349127835	ABCB11	c.697C>G (p.Gln233Glu) c.2380C>G (p.Gln794Glu) c.1069C>G (n.1069C>G) c.2422C>G (p.Gln808Glu) c.2482C>G (p.Gln828Glu) c.706C>G (p.Gln236Glu) c.1711C>G (p.Gln571Glu) c.1165C>G (p.Gln389Glu)
2	g.168944925G=	CA1306207398	ABCB11	c.697C= (p.Gln233=) c.2380C= (p.Gln794=) c.1069C= (n.1069C=) c.2422C= (p.Gln808=) c.2482C= (p.Gln828=) c.706C= (p.Gln236=) c.1711C= (p.Gln571=) c.1165C= (p.Gln389=)
2	g.168944925G>T	CA349127838	ABCB11	c.697C>A (p.Gln233Lys) c.2380C>A (p.Gln794Lys) c.1069C>A (n.1069C>A) c.2422C>A (p.Gln808Lys) c.2482C>A (p.Gln828Lys) c.706C>A (p.Gln236Lys) c.1711C>A (p.Gln571Lys) c.1165C>A (p.Gln389Lys)	dbSNP gnomAD v2 gnomAD v4
2	g.168944926T>A	CA429985457	ABCB11	c.696A>T (p.Ser232=) c.2379A>T (p.Ser793=) c.1068A>T (n.1068A>T) c.2421A>T (p.Ser807=) c.2481A>T (p.Ser827=) c.705A>T (p.Ser235=) c.1710A>T (p.Ser570=) c.1164A>T (p.Ser388=)
2	g.168944926T>C	CA429985459	ABCB11	c.696A>G (p.Ser232=) c.2379A>G (p.Ser793=) c.1068A>G (n.1068A>G) c.2421A>G (p.Ser807=) c.2481A>G (p.Ser827=) c.705A>G (p.Ser235=) c.1710A>G (p.Ser570=) c.1164A>G (p.Ser388=)	gnomAD v4
2	g.168944926T>G	CA429985458	ABCB11	c.696A>C (p.Ser232=) c.2379A>C (p.Ser793=) c.1068A>C (n.1068A>C) c.2421A>C (p.Ser807=) c.2481A>C (p.Ser827=) c.705A>C (p.Ser235=) c.1710A>C (p.Ser570=) c.1164A>C (p.Ser388=)
2	g.168944927G>A	CA349127842	ABCB11	c.695C>T (p.Ser232Leu) c.2378C>T (p.Ser793Leu) c.1067C>T (n.1067C>T) c.2420C>T (p.Ser807Leu) c.2480C>T (p.Ser827Leu) c.704C>T (p.Ser235Leu) c.1709C>T (p.Ser570Leu) c.1163C>T (p.Ser388Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.168944927G>C	CA349127848	ABCB11	c.695C>G (p.Ser232Ter) c.2378C>G (p.Ser793Ter) c.1067C>G (n.1067C>G) c.2420C>G (p.Ser807Ter) c.2480C>G (p.Ser827Ter) c.704C>G (p.Ser235Ter) c.1709C>G (p.Ser570Ter) c.1163C>G (p.Ser388Ter)
2	g.168944927G=	CA1306207404	ABCB11	c.695C= (p.Ser232=) c.2378C= (p.Ser793=) c.1067C= (n.1067C=) c.2420C= (p.Ser807=) c.2480C= (p.Ser827=) c.704C= (p.Ser235=) c.1709C= (p.Ser570=) c.1163C= (p.Ser388=)
2	g.168944927G>T	CA349127851	ABCB11	c.695C>A (p.Ser232Ter) c.2378C>A (p.Ser793Ter) c.1067C>A (n.1067C>A) c.2420C>A (p.Ser807Ter) c.2480C>A (p.Ser827Ter) c.704C>A (p.Ser235Ter) c.1709C>A (p.Ser570Ter) c.1163C>A (p.Ser388Ter)	gnomAD v4
2	g.168944928A>C	CA349127862	ABCB11	c.694T>G (p.Ser232Ala) c.2377T>G (p.Ser793Ala) c.1066T>G (n.1066T>G) c.2419T>G (p.Ser807Ala) c.2479T>G (p.Ser827Ala) c.703T>G (p.Ser235Ala) c.1708T>G (p.Ser570Ala) c.1162T>G (p.Ser388Ala)
2	g.168944928A>G	CA349127860	ABCB11	c.694T>C (p.Ser232Pro) c.2377T>C (p.Ser793Pro) c.1066T>C (n.1066T>C) c.2419T>C (p.Ser807Pro) c.2479T>C (p.Ser827Pro) c.703T>C (p.Ser235Pro) c.1708T>C (p.Ser570Pro) c.1162T>C (p.Ser388Pro)	gnomAD v4
2	g.168944928A>T	CA349127854	ABCB11	c.694T>A (p.Ser232Thr) c.2377T>A (p.Ser793Thr) c.1066T>A (n.1066T>A) c.2419T>A (p.Ser807Thr) c.2479T>A (p.Ser827Thr) c.703T>A (p.Ser235Thr) c.1708T>A (p.Ser570Thr) c.1162T>A (p.Ser388Thr)	gnomAD v4
2	g.168944929C>A	CA1951290	ABCB11	c.693G>T (p.Arg231Ser) c.2376G>T (p.Arg792Ser) c.1065G>T (n.1065G>T) c.2418G>T (p.Arg806Ser) c.2478G>T (p.Arg826Ser) c.702G>T (p.Arg234Ser) c.1707G>T (p.Arg569Ser) c.1161G>T (p.Arg387Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.168944929C=	CA1306207407	ABCB11	c.693G= (p.Arg231=) c.2376G= (p.Arg792=) c.1065G= (n.1065G=) c.2418G= (p.Arg806=) c.2478G= (p.Arg826=) c.702G= (p.Arg234=) c.1707G= (p.Arg569=) c.1161G= (p.Arg387=)
2	g.168944929C>G	CA349127868	ABCB11	c.693G>C (p.Arg231Ser) c.2376G>C (p.Arg792Ser) c.1065G>C (n.1065G>C) c.2418G>C (p.Arg806Ser) c.2478G>C (p.Arg826Ser) c.702G>C (p.Arg234Ser) c.1707G>C (p.Arg569Ser) c.1161G>C (p.Arg387Ser)
2	g.168944929C>T	CA429985462	ABCB11	c.693G>A (p.Arg231=) c.2376G>A (p.Arg792=) c.1065G>A (n.1065G>A) c.2418G>A (p.Arg806=) c.2478G>A (p.Arg826=) c.702G>A (p.Arg234=) c.1707G>A (p.Arg569=) c.1161G>A (p.Arg387=)	gnomAD v4
2	g.168944930del	CA2661805255	ABCB11	c.693del (p.Arg231SerfsTer12) c.2376del (p.Arg792SerfsTer12) c.1065del (n.1065del) c.2418del (p.Arg806SerfsTer12) c.2478del (p.Arg826SerfsTer12) c.702del (p.Arg234SerfsTer12) c.1707del (p.Arg569SerfsTer12) c.1161del (p.Arg387SerfsTer12)	gnomAD v4
2	g.168944930C>A	CA349127870	ABCB11	c.692G>T (p.Arg231Met) c.2375G>T (p.Arg792Met) c.1064G>T (n.1064G>T) c.2417G>T (p.Arg806Met) c.2477G>T (p.Arg826Met) c.701G>T (p.Arg234Met) c.1706G>T (p.Arg569Met) c.1160G>T (p.Arg387Met)	gnomAD v4
2	g.168944930C>G	CA349127872	ABCB11	c.692G>C (p.Arg231Thr) c.2375G>C (p.Arg792Thr) c.1064G>C (n.1064G>C) c.2417G>C (p.Arg806Thr) c.2477G>C (p.Arg826Thr) c.701G>C (p.Arg234Thr) c.1706G>C (p.Arg569Thr) c.1160G>C (p.Arg387Thr)	gnomAD v4
2	g.168944930C>T	CA349127876	ABCB11	c.692G>A (p.Arg231Lys) c.2375G>A (p.Arg792Lys) c.1064G>A (n.1064G>A) c.2417G>A (p.Arg806Lys) c.2477G>A (p.Arg826Lys) c.701G>A (p.Arg234Lys) c.1706G>A (p.Arg569Lys) c.1160G>A (p.Arg387Lys)	gnomAD v4
2	g.168944931T>A	CA349127878	ABCB11	c.691A>T (p.Arg231Trp) c.2374A>T (p.Arg792Trp) c.1063A>T (n.1063A>T) c.2416A>T (p.Arg806Trp) c.2476A>T (p.Arg826Trp) c.700A>T (p.Arg234Trp) c.1705A>T (p.Arg569Trp) c.1159A>T (p.Arg387Trp)	gnomAD v4
2	g.168944931T>C	CA349127882	ABCB11	c.691A>G (p.Arg231Gly) c.2374A>G (p.Arg792Gly) c.1063A>G (n.1063A>G) c.2416A>G (p.Arg806Gly) c.2476A>G (p.Arg826Gly) c.700A>G (p.Arg234Gly) c.1705A>G (p.Arg569Gly) c.1159A>G (p.Arg387Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.168944931T>G	CA429985466	ABCB11	c.691A>C (p.Arg231=) c.2374A>C (p.Arg792=) c.1063A>C (n.1063A>C) c.2416A>C (p.Arg806=) c.2476A>C (p.Arg826=) c.700A>C (p.Arg234=) c.1705A>C (p.Arg569=) c.1159A>C (p.Arg387=)
2	g.168944931T=	CA1306207409	ABCB11	c.691A= (p.Arg231=) c.2374A= (p.Arg792=) c.1063A= (n.1063A=) c.2416A= (p.Arg806=) c.2476A= (p.Arg826=) c.700A= (p.Arg234=) c.1705A= (p.Arg569=) c.1159A= (p.Arg387=)
2	g.168944932T>A	CA349127884	ABCB11	c.690A>T (p.Gln230His) c.2373A>T (p.Gln791His) c.1062A>T (n.1062A>T) c.2415A>T (p.Gln805His) c.2475A>T (p.Gln825His) c.699A>T (p.Gln233His) c.1704A>T (p.Gln568His) c.1158A>T (p.Gln386His)	gnomAD v4
2	g.168944932T>C	CA429985468	ABCB11	c.690A>G (p.Gln230=) c.2373A>G (p.Gln791=) c.1062A>G (n.1062A>G) c.2415A>G (p.Gln805=) c.2475A>G (p.Gln825=) c.699A>G (p.Gln233=) c.1704A>G (p.Gln568=) c.1158A>G (p.Gln386=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.168944932T>G	CA349127888	ABCB11	c.690A>C (p.Gln230His) c.2373A>C (p.Gln791His) c.1062A>C (n.1062A>C) c.2415A>C (p.Gln805His) c.2475A>C (p.Gln825His) c.699A>C (p.Gln233His) c.1704A>C (p.Gln568His) c.1158A>C (p.Gln386His)
2	g.168944932T=	CA1306207412	ABCB11	c.690A= (p.Gln230=) c.2373A= (p.Gln791=) c.1062A= (n.1062A=) c.2415A= (p.Gln805=) c.2475A= (p.Gln825=) c.699A= (p.Gln233=) c.1704A= (p.Gln568=) c.1158A= (p.Gln386=)
2	g.168944933T>A	CA349127891	ABCB11	c.689A>T (p.Gln230Leu) c.2372A>T (p.Gln791Leu) c.1061A>T (n.1061A>T) c.2414A>T (p.Gln805Leu) c.2474A>T (p.Gln825Leu) c.698A>T (p.Gln233Leu) c.1703A>T (p.Gln568Leu) c.1157A>T (p.Gln386Leu)
2	g.168944933T>C	CA349127897	ABCB11	c.689A>G (p.Gln230Arg) c.2372A>G (p.Gln791Arg) c.1061A>G (n.1061A>G) c.2414A>G (p.Gln805Arg) c.2474A>G (p.Gln825Arg) c.698A>G (p.Gln233Arg) c.1703A>G (p.Gln568Arg) c.1157A>G (p.Gln386Arg)	gnomAD v4
2	g.168944933T>G	CA349127899	ABCB11	c.689A>C (p.Gln230Pro) c.2372A>C (p.Gln791Pro) c.1061A>C (n.1061A>C) c.2414A>C (p.Gln805Pro) c.2474A>C (p.Gln825Pro) c.698A>C (p.Gln233Pro) c.1703A>C (p.Gln568Pro) c.1157A>C (p.Gln386Pro)
2	g.168944934G>A	CA349127902	ABCB11	c.688C>T (p.Gln230Ter) c.2371C>T (p.Gln791Ter) c.1060C>T (n.1060C>T) c.2413C>T (p.Gln805Ter) c.2473C>T (p.Gln825Ter) c.697C>T (p.Gln233Ter) c.1702C>T (p.Gln568Ter) c.1156C>T (p.Gln386Ter)	gnomAD v4
2	g.168944934G>C	CA349127908	ABCB11	c.688C>G (p.Gln230Glu) c.2371C>G (p.Gln791Glu) c.1060C>G (n.1060C>G) c.2413C>G (p.Gln805Glu) c.2473C>G (p.Gln825Glu) c.697C>G (p.Gln233Glu) c.1702C>G (p.Gln568Glu) c.1156C>G (p.Gln386Glu)
2	g.168944934G>T	CA349127912	ABCB11	c.688C>A (p.Gln230Lys) c.2371C>A (p.Gln791Lys) c.1060C>A (n.1060C>A) c.2413C>A (p.Gln805Lys) c.2473C>A (p.Gln825Lys) c.697C>A (p.Gln233Lys) c.1702C>A (p.Gln568Lys) c.1156C>A (p.Gln386Lys)
2	g.168944935T>A	CA349127915	ABCB11	c.687A>T (p.Glu229Asp) c.2370A>T (p.Glu790Asp) c.1059A>T (n.1059A>T) c.2412A>T (p.Glu804Asp) c.2472A>T (p.Glu824Asp) c.696A>T (p.Glu232Asp) c.1701A>T (p.Glu567Asp) c.1155A>T (p.Glu385Asp)	gnomAD v4
2	g.168944935T>C	CA429985470	ABCB11	c.687A>G (p.Glu229=) c.2370A>G (p.Glu790=) c.1059A>G (n.1059A>G) c.2412A>G (p.Glu804=) c.2472A>G (p.Glu824=) c.696A>G (p.Glu232=) c.1701A>G (p.Glu567=) c.1155A>G (p.Glu385=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.168944935T>G	CA349127918	ABCB11	c.687A>C (p.Glu229Asp) c.2370A>C (p.Glu790Asp) c.1059A>C (n.1059A>C) c.2412A>C (p.Glu804Asp) c.2472A>C (p.Glu824Asp) c.696A>C (p.Glu232Asp) c.1701A>C (p.Glu567Asp) c.1155A>C (p.Glu385Asp)
2	g.168944935T=	CA1306207414	ABCB11	c.687A= (p.Glu229=) c.2370A= (p.Glu790=) c.1059A= (n.1059A=) c.2412A= (p.Glu804=) c.2472A= (p.Glu824=) c.696A= (p.Glu232=) c.1701A= (p.Glu567=) c.1155A= (p.Glu385=)
2	g.168944936T>A	CA349127923	ABCB11	c.686A>T (p.Glu229Val) c.2369A>T (p.Glu790Val) c.1058A>T (n.1058A>T) c.2411A>T (p.Glu804Val) c.2471A>T (p.Glu824Val) c.695A>T (p.Glu232Val) c.1700A>T (p.Glu567Val) c.1154A>T (p.Glu385Val)	gnomAD v4
2	g.168944936T>C	CA349127924	ABCB11	c.686A>G (p.Glu229Gly) c.2369A>G (p.Glu790Gly) c.1058A>G (n.1058A>G) c.2411A>G (p.Glu804Gly) c.2471A>G (p.Glu824Gly) c.695A>G (p.Glu232Gly) c.1700A>G (p.Glu567Gly) c.1154A>G (p.Glu385Gly)	dbSNP gnomAD v4
2	g.168944936T>G	CA349127925	ABCB11	c.686A>C (p.Glu229Ala) c.2369A>C (p.Glu790Ala) c.1058A>C (n.1058A>C) c.2411A>C (p.Glu804Ala) c.2471A>C (p.Glu824Ala) c.695A>C (p.Glu232Ala) c.1700A>C (p.Glu567Ala) c.1154A>C (p.Glu385Ala)
2	g.168944936T=	CA1306207416	ABCB11	c.686A= (p.Glu229=) c.2369A= (p.Glu790=) c.1058A= (n.1058A=) c.2411A= (p.Glu804=) c.2471A= (p.Glu824=) c.695A= (p.Glu232=) c.1700A= (p.Glu567=) c.1154A= (p.Glu385=)
2	g.168944937C>A	CA349127927	ABCB11	c.685G>T (p.Glu229Ter) c.2368G>T (p.Glu790Ter) c.1057G>T (n.1057G>T) c.2410G>T (p.Glu804Ter) c.2470G>T (p.Glu824Ter) c.694G>T (p.Glu232Ter) c.1699G>T (p.Glu567Ter) c.1153G>T (p.Glu385Ter)	gnomAD v4
2	g.168944937C=	CA1306207419	ABCB11	c.685G= (p.Glu229=) c.2368G= (p.Glu790=) c.1057G= (n.1057G=) c.2410G= (p.Glu804=) c.2470G= (p.Glu824=) c.694G= (p.Glu232=) c.1699G= (p.Glu567=) c.1153G= (p.Glu385=)
2	g.168944937C>G	CA1951291	ABCB11	c.685G>C (p.Glu229Gln) c.2368G>C (p.Glu790Gln) c.1057G>C (n.1057G>C) c.2410G>C (p.Glu804Gln) c.2470G>C (p.Glu824Gln) c.694G>C (p.Glu232Gln) c.1699G>C (p.Glu567Gln) c.1153G>C (p.Glu385Gln)	dbSNP ExAC gnomAD v2
2	g.168944937C>T	CA349127930	ABCB11	c.685G>A (p.Glu229Lys) c.2368G>A (p.Glu790Lys) c.1057G>A (n.1057G>A) c.2410G>A (p.Glu804Lys) c.2470G>A (p.Glu824Lys) c.694G>A (p.Glu232Lys) c.1699G>A (p.Glu567Lys) c.1153G>A (p.Glu385Lys)	gnomAD v4
2	g.168944938C>A	CA349127932	ABCB11	c.684G>T (p.Glu228Asp) c.2367G>T (p.Glu789Asp) c.1056G>T (n.1056G>T) c.2409G>T (p.Glu803Asp) c.2469G>T (p.Glu823Asp) c.693G>T (p.Glu231Asp) c.1698G>T (p.Glu566Asp) c.1152G>T (p.Glu384Asp)	gnomAD v4
2	g.168944938C>G	CA349127936	ABCB11	c.684G>C (p.Glu228Asp) c.2367G>C (p.Glu789Asp) c.1056G>C (n.1056G>C) c.2409G>C (p.Glu803Asp) c.2469G>C (p.Glu823Asp) c.693G>C (p.Glu231Asp) c.1698G>C (p.Glu566Asp) c.1152G>C (p.Glu384Asp)
2	g.168944938C>T	CA429985472	ABCB11	c.684G>A (p.Glu228=) c.2367G>A (p.Glu789=) c.1056G>A (n.1056G>A) c.2409G>A (p.Glu803=) c.2469G>A (p.Glu823=) c.693G>A (p.Glu231=) c.1698G>A (p.Glu566=) c.1152G>A (p.Glu384=)
2	g.168944939T>A	CA349127943	ABCB11	c.683A>T (p.Glu228Val) c.2366A>T (p.Glu789Val) c.1055A>T (n.1055A>T) c.2408A>T (p.Glu803Val) c.2468A>T (p.Glu823Val) c.692A>T (p.Glu231Val) c.1697A>T (p.Glu566Val) c.1151A>T (p.Glu384Val)
2	g.168944939T>C	CA349127945	ABCB11	c.683A>G (p.Glu228Gly) c.2366A>G (p.Glu789Gly) c.1055A>G (n.1055A>G) c.2408A>G (p.Glu803Gly) c.2468A>G (p.Glu823Gly) c.692A>G (p.Glu231Gly) c.1697A>G (p.Glu566Gly) c.1151A>G (p.Glu384Gly)
2	g.168944939T>G	CA349127950	ABCB11	c.683A>C (p.Glu228Ala) c.2366A>C (p.Glu789Ala) c.1055A>C (n.1055A>C) c.2408A>C (p.Glu803Ala) c.2468A>C (p.Glu823Ala) c.692A>C (p.Glu231Ala) c.1697A>C (p.Glu566Ala) c.1151A>C (p.Glu384Ala)
2	g.168944940C>A	CA349127967	ABCB11	c.682G>T (p.Glu228Ter) c.2365G>T (p.Glu789Ter) c.1054G>T (n.1054G>T) c.2407G>T (p.Glu803Ter) c.2467G>T (p.Glu823Ter) c.691G>T (p.Glu231Ter) c.1696G>T (p.Glu566Ter) c.1150G>T (p.Glu384Ter)	gnomAD v4
2	g.168944940C>G	CA349127969	ABCB11	c.682G>C (p.Glu228Gln) c.2365G>C (p.Glu789Gln) c.1054G>C (n.1054G>C) c.2407G>C (p.Glu803Gln) c.2467G>C (p.Glu823Gln) c.691G>C (p.Glu231Gln) c.1696G>C (p.Glu566Gln) c.1150G>C (p.Glu384Gln)
2	g.168944940C>T	CA349127964	ABCB11	c.682G>A (p.Glu228Lys) c.2365G>A (p.Glu789Lys) c.1054G>A (n.1054G>A) c.2407G>A (p.Glu803Lys) c.2467G>A (p.Glu823Lys) c.691G>A (p.Glu231Lys) c.1696G>A (p.Glu566Lys) c.1150G>A (p.Glu384Lys)
2	g.168944941T>A	CA349127975	ABCB11	c.681A>T (p.Lys227Asn) c.2364A>T (p.Lys788Asn) c.1053A>T (n.1053A>T) c.2406A>T (p.Lys802Asn) c.2466A>T (p.Lys822Asn) c.690A>T (p.Lys230Asn) c.1695A>T (p.Lys565Asn) c.1149A>T (p.Lys383Asn)	dbSNP gnomAD v2 gnomAD v4
2	g.168944941T>C	CA429985473	ABCB11	c.681A>G (p.Lys227=) c.2364A>G (p.Lys788=) c.1053A>G (n.1053A>G) c.2406A>G (p.Lys802=) c.2466A>G (p.Lys822=) c.690A>G (p.Lys230=) c.1695A>G (p.Lys565=) c.1149A>G (p.Lys383=)
2	g.168944941T>G	CA349127978	ABCB11	c.681A>C (p.Lys227Asn) c.2364A>C (p.Lys788Asn) c.1053A>C (n.1053A>C) c.2406A>C (p.Lys802Asn) c.2466A>C (p.Lys822Asn) c.690A>C (p.Lys230Asn) c.1695A>C (p.Lys565Asn) c.1149A>C (p.Lys383Asn)
2	g.168944941T=	CA1306207421	ABCB11	c.681A= (p.Lys227=) c.2364A= (p.Lys788=) c.1053A= (n.1053A=) c.2406A= (p.Lys802=) c.2466A= (p.Lys822=) c.690A= (p.Lys230=) c.1695A= (p.Lys565=) c.1149A= (p.Lys383=)
2	g.168944942T>A	CA349127981	ABCB11	c.680A>T (p.Lys227Ile) c.2363A>T (p.Lys788Ile) c.1052A>T (n.1052A>T) c.2405A>T (p.Lys802Ile) c.2465A>T (p.Lys822Ile) c.689A>T (p.Lys230Ile) c.1694A>T (p.Lys565Ile) c.1148A>T (p.Lys383Ile)
2	g.168944942T>C	CA349127984	ABCB11	c.680A>G (p.Lys227Arg) c.2363A>G (p.Lys788Arg) c.1052A>G (n.1052A>G) c.2405A>G (p.Lys802Arg) c.2465A>G (p.Lys822Arg) c.689A>G (p.Lys230Arg) c.1694A>G (p.Lys565Arg) c.1148A>G (p.Lys383Arg)
2	g.168944942T>G	CA349127986	ABCB11	c.680A>C (p.Lys227Thr) c.2363A>C (p.Lys788Thr) c.1052A>C (n.1052A>C) c.2405A>C (p.Lys802Thr) c.2465A>C (p.Lys822Thr) c.689A>C (p.Lys230Thr) c.1694A>C (p.Lys565Thr) c.1148A>C (p.Lys383Thr)
2	g.168944942T=	CA1306207426	ABCB11	c.680A= (p.Lys227=) c.2363A= (p.Lys788=) c.1052A= (n.1052A=) c.2405A= (p.Lys802=) c.2465A= (p.Lys822=) c.689A= (p.Lys230=) c.1694A= (p.Lys565=) c.1148A= (p.Lys383=)
2	g.168944942_168944943insCATG	CA1306207428	ABCB11	c.679_680insCATG (p.Lys227ThrfsTer2) c.2362_2363insCATG (p.Lys788ThrfsTer2) c.1051_1052insCATG (n.1051_1052insCATG) c.2404_2405insCATG (p.Lys802ThrfsTer2) c.2464_2465insCATG (p.Lys822ThrfsTer2) c.688_689insCATG (p.Lys230ThrfsTer2) c.1693_1694insCATG (p.Lys565ThrfsTer2) c.1147_1148insCATG (p.Lys383ThrfsTer2)	dbSNP
2	g.168944943T>A	CA349127988	ABCB11	c.679A>T (p.Lys227Ter) c.2362A>T (p.Lys788Ter) c.1051A>T (n.1051A>T) c.2404A>T (p.Lys802Ter) c.2464A>T (p.Lys822Ter) c.688A>T (p.Lys230Ter) c.1693A>T (p.Lys565Ter) c.1147A>T (p.Lys383Ter)
2	g.168944943T>C	CA349127993	ABCB11	c.679A>G (p.Lys227Glu) c.2362A>G (p.Lys788Glu) c.1051A>G (n.1051A>G) c.2404A>G (p.Lys802Glu) c.2464A>G (p.Lys822Glu) c.688A>G (p.Lys230Glu) c.1693A>G (p.Lys565Glu) c.1147A>G (p.Lys383Glu)
2	g.168944943T>G	CA349127995	ABCB11	c.679A>C (p.Lys227Gln) c.2362A>C (p.Lys788Gln) c.1051A>C (n.1051A>C) c.2404A>C (p.Lys802Gln) c.2464A>C (p.Lys822Gln) c.688A>C (p.Lys230Gln) c.1693A>C (p.Lys565Gln) c.1147A>C (p.Lys383Gln)
2	g.168944944A=	CA1306207431	ABCB11	c.678T= (p.Asp226=) c.2361T= (p.Asp787=) c.1050T= (n.1050T=) c.2403T= (p.Asp801=) c.2463T= (p.Asp821=) c.687T= (p.Asp229=) c.1692T= (p.Asp564=) c.1146T= (p.Asp382=)
2	g.168944944A>C	CA349127996	ABCB11	c.678T>G (p.Asp226Glu) c.2361T>G (p.Asp787Glu) c.1050T>G (n.1050T>G) c.2403T>G (p.Asp801Glu) c.2463T>G (p.Asp821Glu) c.687T>G (p.Asp229Glu) c.1692T>G (p.Asp564Glu) c.1146T>G (p.Asp382Glu)
2	g.168944944A>G	CA429985475	ABCB11	c.678T>C (p.Asp226=) c.2361T>C (p.Asp787=) c.1050T>C (n.1050T>C) c.2403T>C (p.Asp801=) c.2463T>C (p.Asp821=) c.687T>C (p.Asp229=) c.1692T>C (p.Asp564=) c.1146T>C (p.Asp382=)	gnomAD v4
2	g.168944944A>T	CA349127998	ABCB11	c.678T>A (p.Asp226Glu) c.2361T>A (p.Asp787Glu) c.1050T>A (n.1050T>A) c.2403T>A (p.Asp801Glu) c.2463T>A (p.Asp821Glu) c.687T>A (p.Asp229Glu) c.1692T>A (p.Asp564Glu) c.1146T>A (p.Asp382Glu)	dbSNP
2	g.168944945T>A	CA349128001	ABCB11	c.677A>T (p.Asp226Val) c.2360A>T (p.Asp787Val) c.1049A>T (n.1049A>T) c.2402A>T (p.Asp801Val) c.2462A>T (p.Asp821Val) c.686A>T (p.Asp229Val) c.1691A>T (p.Asp564Val) c.1145A>T (p.Asp382Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.168944945T>C	CA349128014	ABCB11	c.677A>G (p.Asp226Gly) c.2360A>G (p.Asp787Gly) c.1049A>G (n.1049A>G) c.2402A>G (p.Asp801Gly) c.2462A>G (p.Asp821Gly) c.686A>G (p.Asp229Gly) c.1691A>G (p.Asp564Gly) c.1145A>G (p.Asp382Gly)
2	g.168944945T>G	CA349128017	ABCB11	c.677A>C (p.Asp226Ala) c.2360A>C (p.Asp787Ala) c.1049A>C (n.1049A>C) c.2402A>C (p.Asp801Ala) c.2462A>C (p.Asp821Ala) c.686A>C (p.Asp229Ala) c.1691A>C (p.Asp564Ala) c.1145A>C (p.Asp382Ala)
2	g.168944945T=	CA1306207435	ABCB11	c.677A= (p.Asp226=) c.2360A= (p.Asp787=) c.1049A= (n.1049A=) c.2402A= (p.Asp801=) c.2462A= (p.Asp821=) c.686A= (p.Asp229=) c.1691A= (p.Asp564=) c.1145A= (p.Asp382=)
2	g.168944946C>A	CA349128023	ABCB11	c.676G>T (p.Asp226Tyr) c.2359G>T (p.Asp787Tyr) c.1048G>T (n.1048G>T) c.2401G>T (p.Asp801Tyr) c.2461G>T (p.Asp821Tyr) c.685G>T (p.Asp229Tyr) c.1690G>T (p.Asp564Tyr) c.1144G>T (p.Asp382Tyr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.168944946C=	CA1306207437	ABCB11	c.676G= (p.Asp226=) c.2359G= (p.Asp787=) c.1048G= (n.1048G=) c.2401G= (p.Asp801=) c.2461G= (p.Asp821=) c.685G= (p.Asp229=) c.1690G= (p.Asp564=) c.1144G= (p.Asp382=)
2	g.168944946C>G	CA349128022	ABCB11	c.676G>C (p.Asp226His) c.2359G>C (p.Asp787His) c.1048G>C (n.1048G>C) c.2401G>C (p.Asp801His) c.2461G>C (p.Asp821His) c.685G>C (p.Asp229His) c.1690G>C (p.Asp564His) c.1144G>C (p.Asp382His)
2	g.168944946C>T	CA349128019	ABCB11	c.676G>A (p.Asp226Asn) c.2359G>A (p.Asp787Asn) c.1048G>A (n.1048G>A) c.2401G>A (p.Asp801Asn) c.2461G>A (p.Asp821Asn) c.685G>A (p.Asp229Asn) c.1690G>A (p.Asp564Asn) c.1144G>A (p.Asp382Asn)	dbSNP gnomAD v4
2	g.168944947A>C	CA429985479	ABCB11	c.675T>G (p.Pro225=) c.2358T>G (p.Pro786=) c.1047T>G (n.1047T>G) c.2400T>G (p.Pro800=) c.2460T>G (p.Pro820=) c.684T>G (p.Pro228=) c.1689T>G (p.Pro563=) c.1143T>G (p.Pro381=)
2	g.168944947A>G	CA429985481	ABCB11	c.675T>C (p.Pro225=) c.2358T>C (p.Pro786=) c.1047T>C (n.1047T>C) c.2400T>C (p.Pro800=) c.2460T>C (p.Pro820=) c.684T>C (p.Pro228=) c.1689T>C (p.Pro563=) c.1143T>C (p.Pro381=)	gnomAD v4
2	g.168944947A>T	CA429985480	ABCB11	c.675T>A (p.Pro225=) c.2358T>A (p.Pro786=) c.1047T>A (n.1047T>A) c.2400T>A (p.Pro800=) c.2460T>A (p.Pro820=) c.684T>A (p.Pro228=) c.1689T>A (p.Pro563=) c.1143T>A (p.Pro381=)
2	g.168944948G>A	CA349128024	ABCB11	c.674C>T (p.Pro225Leu) c.2357C>T (p.Pro786Leu) c.1046C>T (n.1046C>T) c.2399C>T (p.Pro800Leu) c.2459C>T (p.Pro820Leu) c.683C>T (p.Pro228Leu) c.1688C>T (p.Pro563Leu) c.1142C>T (p.Pro381Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.168944948G>C	CA349128026	ABCB11	c.674C>G (p.Pro225Arg) c.2357C>G (p.Pro786Arg) c.1046C>G (n.1046C>G) c.2399C>G (p.Pro800Arg) c.2459C>G (p.Pro820Arg) c.683C>G (p.Pro228Arg) c.1688C>G (p.Pro563Arg) c.1142C>G (p.Pro381Arg)
2	g.168944948G=	CA1306207442	ABCB11	c.674C= (p.Pro225=) c.2357C= (p.Pro786=) c.1046C= (n.1046C=) c.2399C= (p.Pro800=) c.2459C= (p.Pro820=) c.683C= (p.Pro228=) c.1688C= (p.Pro563=) c.1142C= (p.Pro381=)
2	g.168944948G>T	CA349128028	ABCB11	c.674C>A (p.Pro225His) c.2357C>A (p.Pro786His) c.1046C>A (n.1046C>A) c.2399C>A (p.Pro800His) c.2459C>A (p.Pro820His) c.683C>A (p.Pro228His) c.1688C>A (p.Pro563His) c.1142C>A (p.Pro381His)	gnomAD v4
2	g.168944949G>A	CA349128029	ABCB11	c.673C>T (p.Pro225Ser) c.2356C>T (p.Pro786Ser) c.1045C>T (n.1045C>T) c.2398C>T (p.Pro800Ser) c.2458C>T (p.Pro820Ser) c.682C>T (p.Pro228Ser) c.1687C>T (p.Pro563Ser) c.1141C>T (p.Pro381Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.168944949G>C	CA349128031	ABCB11	c.673C>G (p.Pro225Ala) c.2356C>G (p.Pro786Ala) c.1045C>G (n.1045C>G) c.2398C>G (p.Pro800Ala) c.2458C>G (p.Pro820Ala) c.682C>G (p.Pro228Ala) c.1687C>G (p.Pro563Ala) c.1141C>G (p.Pro381Ala)
2	g.168944949G=	CA1306207444	ABCB11	c.673C= (p.Pro225=) c.2356C= (p.Pro786=) c.1045C= (n.1045C=) c.2398C= (p.Pro800=) c.2458C= (p.Pro820=) c.682C= (p.Pro228=) c.1687C= (p.Pro563=) c.1141C= (p.Pro381=)
2	g.168944949G>T	CA349128034	ABCB11	c.673C>A (p.Pro225Thr) c.2356C>A (p.Pro786Thr) c.1045C>A (n.1045C>A) c.2398C>A (p.Pro800Thr) c.2458C>A (p.Pro820Thr) c.682C>A (p.Pro228Thr) c.1687C>A (p.Pro563Thr) c.1141C>A (p.Pro381Thr)	gnomAD v4
2	g.168944950A=	CA1306207446	ABCB11	c.672T= (p.Ile224=) c.2355T= (p.Ile785=) c.1044T= (n.1044T=) c.2397T= (p.Ile799=) c.2457T= (p.Ile819=) c.681T= (p.Ile227=) c.1686T= (p.Ile562=) c.1140T= (p.Ile380=)
2	g.168944950A>C	CA349128038	ABCB11	c.672T>G (p.Ile224Met) c.2355T>G (p.Ile785Met) c.1044T>G (n.1044T>G) c.2397T>G (p.Ile799Met) c.2457T>G (p.Ile819Met) c.681T>G (p.Ile227Met) c.1686T>G (p.Ile562Met) c.1140T>G (p.Ile380Met)
2	g.168944950A>G	CA429985483	ABCB11	c.672T>C (p.Ile224=) c.2355T>C (p.Ile785=) c.1044T>C (n.1044T>C) c.2397T>C (p.Ile799=) c.2457T>C (p.Ile819=) c.681T>C (p.Ile227=) c.1686T>C (p.Ile562=) c.1140T>C (p.Ile380=)	dbSNP
2	g.168944950A>T	CA429985484	ABCB11	c.672T>A (p.Ile224=) c.2355T>A (p.Ile785=) c.1044T>A (n.1044T>A) c.2397T>A (p.Ile799=) c.2457T>A (p.Ile819=) c.681T>A (p.Ile227=) c.1686T>A (p.Ile562=) c.1140T>A (p.Ile380=)
2	g.168944951A>C	CA349128042	ABCB11	c.671T>G (p.Ile224Ser) c.2354T>G (p.Ile785Ser) c.1043T>G (n.1043T>G) c.2396T>G (p.Ile799Ser) c.2456T>G (p.Ile819Ser) c.680T>G (p.Ile227Ser) c.1685T>G (p.Ile562Ser) c.1139T>G (p.Ile380Ser)
2	g.168944951A>G	CA349128046	ABCB11	c.671T>C (p.Ile224Thr) c.2354T>C (p.Ile785Thr) c.1043T>C (n.1043T>C) c.2396T>C (p.Ile799Thr) c.2456T>C (p.Ile819Thr) c.680T>C (p.Ile227Thr) c.1685T>C (p.Ile562Thr) c.1139T>C (p.Ile380Thr)	gnomAD v4
2	g.168944951A>T	CA349128049	ABCB11	c.671T>A (p.Ile224Asn) c.2354T>A (p.Ile785Asn) c.1043T>A (n.1043T>A) c.2396T>A (p.Ile799Asn) c.2456T>A (p.Ile819Asn) c.680T>A (p.Ile227Asn) c.1685T>A (p.Ile562Asn) c.1139T>A (p.Ile380Asn)
2	g.168944952T>A	CA349128051	ABCB11	c.670A>T (p.Ile224Phe) c.2353A>T (p.Ile785Phe) c.1042A>T (n.1042A>T) c.2395A>T (p.Ile799Phe) c.2455A>T (p.Ile819Phe) c.679A>T (p.Ile227Phe) c.1684A>T (p.Ile562Phe) c.1138A>T (p.Ile380Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.168944952T>C	CA349128054	ABCB11	c.670A>G (p.Ile224Val) c.2353A>G (p.Ile785Val) c.1042A>G (n.1042A>G) c.2395A>G (p.Ile799Val) c.2455A>G (p.Ile819Val) c.679A>G (p.Ile227Val) c.1684A>G (p.Ile562Val) c.1138A>G (p.Ile380Val)	dbSNP gnomAD v2 gnomAD v4
2	g.168944952T>G	CA349128060	ABCB11	c.670A>C (p.Ile224Leu) c.2353A>C (p.Ile785Leu) c.1042A>C (n.1042A>C) c.2395A>C (p.Ile799Leu) c.2455A>C (p.Ile819Leu) c.679A>C (p.Ile227Leu) c.1684A>C (p.Ile562Leu) c.1138A>C (p.Ile380Leu)
2	g.168944952T=	CA1306207449	ABCB11	c.670A= (p.Ile224=) c.2353A= (p.Ile785=) c.1042A= (n.1042A=) c.2395A= (p.Ile799=) c.2455A= (p.Ile819=) c.679A= (p.Ile227=) c.1684A= (p.Ile562=) c.1138A= (p.Ile380=)
2	g.168944953T>A	CA429985487	ABCB11	c.669A>T (p.Ser223=) c.2352A>T (p.Ser784=) c.1041A>T (n.1041A>T) c.2394A>T (p.Ser798=) c.2454A>T (p.Ser818=) c.678A>T (p.Ser226=) c.1683A>T (p.Ser561=) c.1137A>T (p.Ser379=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.168944953T>C	CA429985488	ABCB11	c.669A>G (p.Ser223=) c.2352A>G (p.Ser784=) c.1041A>G (n.1041A>G) c.2394A>G (p.Ser798=) c.2454A>G (p.Ser818=) c.678A>G (p.Ser226=) c.1683A>G (p.Ser561=) c.1137A>G (p.Ser379=)	gnomAD v4
2	g.168944953T>G	CA429985489	ABCB11	c.669A>C (p.Ser223=) c.2352A>C (p.Ser784=) c.1041A>C (n.1041A>C) c.2394A>C (p.Ser798=) c.2454A>C (p.Ser818=) c.678A>C (p.Ser226=) c.1683A>C (p.Ser561=) c.1137A>C (p.Ser379=)
2	g.168944953T=	CA1306207451	ABCB11	c.669A= (p.Ser223=) c.2352A= (p.Ser784=) c.1041A= (n.1041A=) c.2394A= (p.Ser798=) c.2454A= (p.Ser818=) c.678A= (p.Ser226=) c.1683A= (p.Ser561=) c.1137A= (p.Ser379=)
2	g.168944954G>A	CA349128064	ABCB11	c.668C>T (p.Ser223Leu) c.2351C>T (p.Ser784Leu) c.1040C>T (n.1040C>T) c.2393C>T (p.Ser798Leu) c.2453C>T (p.Ser818Leu) c.677C>T (p.Ser226Leu) c.1682C>T (p.Ser561Leu) c.1136C>T (p.Ser379Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.168944954G>C	CA349128066	ABCB11	c.668C>G (p.Ser223Ter) c.2351C>G (p.Ser784Ter) c.1040C>G (n.1040C>G) c.2393C>G (p.Ser798Ter) c.2453C>G (p.Ser818Ter) c.677C>G (p.Ser226Ter) c.1682C>G (p.Ser561Ter) c.1136C>G (p.Ser379Ter)
2	g.168944954G=	CA1306207453	ABCB11	c.668C= (p.Ser223=) c.2351C= (p.Ser784=) c.1040C= (n.1040C=) c.2393C= (p.Ser798=) c.2453C= (p.Ser818=) c.677C= (p.Ser226=) c.1682C= (p.Ser561=) c.1136C= (p.Ser379=)
2	g.168944954G>T	CA349128061	ABCB11	c.668C>A (p.Ser223Ter) c.2351C>A (p.Ser784Ter) c.1040C>A (n.1040C>A) c.2393C>A (p.Ser798Ter) c.2453C>A (p.Ser818Ter) c.677C>A (p.Ser226Ter) c.1682C>A (p.Ser561Ter) c.1136C>A (p.Ser379Ter)	gnomAD v4
2	g.168944955A>C	CA349128069	ABCB11	c.667T>G (p.Ser223Ala) c.2350T>G (p.Ser784Ala) c.1039T>G (n.1039T>G) c.2392T>G (p.Ser798Ala) c.2452T>G (p.Ser818Ala) c.676T>G (p.Ser226Ala) c.1681T>G (p.Ser561Ala) c.1135T>G (p.Ser379Ala)
2	g.168944955A>G	CA349128072	ABCB11	c.667T>C (p.Ser223Pro) c.2350T>C (p.Ser784Pro) c.1039T>C (n.1039T>C) c.2392T>C (p.Ser798Pro) c.2452T>C (p.Ser818Pro) c.676T>C (p.Ser226Pro) c.1681T>C (p.Ser561Pro) c.1135T>C (p.Ser379Pro)	gnomAD v4
2	g.168944955A>T	CA349128071	ABCB11	c.667T>A (p.Ser223Thr) c.2350T>A (p.Ser784Thr) c.1039T>A (n.1039T>A) c.2392T>A (p.Ser798Thr) c.2452T>A (p.Ser818Thr) c.676T>A (p.Ser226Thr) c.1681T>A (p.Ser561Thr) c.1135T>A (p.Ser379Thr)
2	g.168944959del	CA2661805282	ABCB11	c.667del (p.Ser223GlnfsTer20) c.2350del (p.Ser784GlnfsTer20) c.1039del (n.1039del) c.2392del (p.Ser798GlnfsTer20) c.2452del (p.Ser818GlnfsTer20) c.676del (p.Ser226GlnfsTer20) c.1681del (p.Ser561GlnfsTer20) c.1135del (p.Ser379GlnfsTer20)	gnomAD v4
2	g.168944958_168944959del	CA2697551280	ABCB11	c.666_667del (p.Ser223AsnfsTer3) c.2349_2350del (p.Ser784AsnfsTer3) c.1038_1039del (n.1038_1039del) c.2391_2392del (p.Ser798AsnfsTer3) c.2451_2452del (p.Ser818AsnfsTer3) c.675_676del (p.Ser226AsnfsTer3) c.1680_1681del (p.Ser561AsnfsTer3) c.1134_1135del (p.Ser379AsnfsTer3)	ClinVar
2	g.168944956A>C	CA349128077	ABCB11	c.666T>G (p.Phe222Leu) c.2349T>G (p.Phe783Leu) c.1038T>G (n.1038T>G) c.2391T>G (p.Phe797Leu) c.2451T>G (p.Phe817Leu) c.675T>G (p.Phe225Leu) c.1680T>G (p.Phe560Leu) c.1134T>G (p.Phe378Leu)	gnomAD v4
2	g.168944956A>G	CA429985491	ABCB11	c.666T>C (p.Phe222=) c.2349T>C (p.Phe783=) c.1038T>C (n.1038T>C) c.2391T>C (p.Phe797=) c.2451T>C (p.Phe817=) c.675T>C (p.Phe225=) c.1680T>C (p.Phe560=) c.1134T>C (p.Phe378=)	gnomAD v4
2	g.168944956A>T	CA349128082	ABCB11	c.666T>A (p.Phe222Leu) c.2349T>A (p.Phe783Leu) c.1038T>A (n.1038T>A) c.2391T>A (p.Phe797Leu) c.2451T>A (p.Phe817Leu) c.675T>A (p.Phe225Leu) c.1680T>A (p.Phe560Leu) c.1134T>A (p.Phe378Leu)	COSMIC COSMIC
2	g.168944957A=	CA1306207455	ABCB11	c.665T= (p.Phe222=) c.2348T= (p.Phe783=) c.1037T= (n.1037T=) c.2390T= (p.Phe797=) c.2450T= (p.Phe817=) c.674T= (p.Phe225=) c.1679T= (p.Phe560=) c.1133T= (p.Phe378=)
2	g.168944957A>C	CA349128085	ABCB11	c.665T>G (p.Phe222Cys) c.2348T>G (p.Phe783Cys) c.1037T>G (n.1037T>G) c.2390T>G (p.Phe797Cys) c.2450T>G (p.Phe817Cys) c.674T>G (p.Phe225Cys) c.1679T>G (p.Phe560Cys) c.1133T>G (p.Phe378Cys)
2	g.168944957A>G	CA349128088	ABCB11	c.665T>C (p.Phe222Ser) c.2348T>C (p.Phe783Ser) c.1037T>C (n.1037T>C) c.2390T>C (p.Phe797Ser) c.2450T>C (p.Phe817Ser) c.674T>C (p.Phe225Ser) c.1679T>C (p.Phe560Ser) c.1133T>C (p.Phe378Ser)	gnomAD v4
2	g.168944957A>T	CA349128086	ABCB11	c.665T>A (p.Phe222Tyr) c.2348T>A (p.Phe783Tyr) c.1037T>A (n.1037T>A) c.2390T>A (p.Phe797Tyr) c.2450T>A (p.Phe817Tyr) c.674T>A (p.Phe225Tyr) c.1679T>A (p.Phe560Tyr) c.1133T>A (p.Phe378Tyr)	dbSNP gnomAD v3 gnomAD v4
2	g.168944958A=	CA1306207458	ABCB11	c.664T= (p.Phe222=) c.2347T= (p.Phe783=) c.1036T= (n.1036T=) c.2389T= (p.Phe797=) c.2449T= (p.Phe817=) c.673T= (p.Phe225=) c.1678T= (p.Phe560=) c.1132T= (p.Phe378=)
2	g.168944958A>C	CA349128089	ABCB11	c.664T>G (p.Phe222Val) c.2347T>G (p.Phe783Val) c.1036T>G (n.1036T>G) c.2389T>G (p.Phe797Val) c.2449T>G (p.Phe817Val) c.673T>G (p.Phe225Val) c.1678T>G (p.Phe560Val) c.1132T>G (p.Phe378Val)
2	g.168944958A>G	CA349128090	ABCB11	c.664T>C (p.Phe222Leu) c.2347T>C (p.Phe783Leu) c.1036T>C (n.1036T>C) c.2389T>C (p.Phe797Leu) c.2449T>C (p.Phe817Leu) c.673T>C (p.Phe225Leu) c.1678T>C (p.Phe560Leu) c.1132T>C (p.Phe378Leu)
2	g.168944958A>T	CA59881013	ABCB11	c.664T>A (p.Phe222Ile) c.2347T>A (p.Phe783Ile) c.1036T>A (n.1036T>A) c.2389T>A (p.Phe797Ile) c.2449T>A (p.Phe817Ile) c.673T>A (p.Phe225Ile) c.1678T>A (p.Phe560Ile) c.1132T>A (p.Phe378Ile)	dbSNP
2	g.168944959A>C	CA429985492	ABCB11	c.663T>G (p.Thr221=) c.2346T>G (p.Thr782=) c.1035T>G (n.1035T>G) c.2388T>G (p.Thr796=) c.2448T>G (p.Thr816=) c.672T>G (p.Thr224=) c.1677T>G (p.Thr559=) c.1131T>G (p.Thr377=)	ClinVar
2	g.168944959A>G	CA429985493	ABCB11	c.663T>C (p.Thr221=) c.2346T>C (p.Thr782=) c.1035T>C (n.1035T>C) c.2388T>C (p.Thr796=) c.2448T>C (p.Thr816=) c.672T>C (p.Thr224=) c.1677T>C (p.Thr559=) c.1131T>C (p.Thr377=)	gnomAD v4
2	g.168944959A>T	CA429985494	ABCB11	c.663T>A (p.Thr221=) c.2346T>A (p.Thr782=) c.1035T>A (n.1035T>A) c.2388T>A (p.Thr796=) c.2448T>A (p.Thr816=) c.672T>A (p.Thr224=) c.1677T>A (p.Thr559=) c.1131T>A (p.Thr377=)
2	g.168944960G>A	CA349128091	ABCB11	c.662C>T (p.Thr221Ile) c.2345C>T (p.Thr782Ile) c.1034C>T (n.1034C>T) c.2387C>T (p.Thr796Ile) c.2447C>T (p.Thr816Ile) c.671C>T (p.Thr224Ile) c.1676C>T (p.Thr559Ile) c.1130C>T (p.Thr377Ile)	gnomAD v4
2	g.168944960G>C	CA349128092	ABCB11	c.662C>G (p.Thr221Ser) c.2345C>G (p.Thr782Ser) c.1034C>G (n.1034C>G) c.2387C>G (p.Thr796Ser) c.2447C>G (p.Thr816Ser) c.671C>G (p.Thr224Ser) c.1676C>G (p.Thr559Ser) c.1130C>G (p.Thr377Ser)
2	g.168944960G=	CA1306207460	ABCB11	c.662C= (p.Thr221=) c.2345C= (p.Thr782=) c.1034C= (n.1034C=) c.2387C= (p.Thr796=) c.2447C= (p.Thr816=) c.671C= (p.Thr224=) c.1676C= (p.Thr559=) c.1130C= (p.Thr377=)
2	g.168944960G>T	CA59881023	ABCB11	c.662C>A (p.Thr221Asn) c.2345C>A (p.Thr782Asn) c.1034C>A (n.1034C>A) c.2387C>A (p.Thr796Asn) c.2447C>A (p.Thr816Asn) c.671C>A (p.Thr224Asn) c.1676C>A (p.Thr559Asn) c.1130C>A (p.Thr377Asn)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.168944961T>A	CA349128094	ABCB11	c.661A>T (p.Thr221Ser) c.2344A>T (p.Thr782Ser) c.1033A>T (n.1033A>T) c.2386A>T (p.Thr796Ser) c.2446A>T (p.Thr816Ser) c.670A>T (p.Thr224Ser) c.1675A>T (p.Thr559Ser) c.1129A>T (p.Thr377Ser)
2	g.168944961T>C	CA349128096	ABCB11	c.661A>G (p.Thr221Ala) c.2344A>G (p.Thr782Ala) c.1033A>G (n.1033A>G) c.2386A>G (p.Thr796Ala) c.2446A>G (p.Thr816Ala) c.670A>G (p.Thr224Ala) c.1675A>G (p.Thr559Ala) c.1129A>G (p.Thr377Ala)	gnomAD v4
2	g.168944961T>G	CA349128104	ABCB11	c.661A>C (p.Thr221Pro) c.2344A>C (p.Thr782Pro) c.1033A>C (n.1033A>C) c.2386A>C (p.Thr796Pro) c.2446A>C (p.Thr816Pro) c.670A>C (p.Thr224Pro) c.1675A>C (p.Thr559Pro) c.1129A>C (p.Thr377Pro)
2	g.168944962C>A	CA349128107	ABCB11	c.661-1G>T (n.661-1G>T) c.2344-1G>T (n.2344-1G>T) c.1033-1G>T (n.1033-1G>T) c.2386-1G>T (n.2386-1G>T) c.2446-1G>T (n.2446-1G>T) c.670-1G>T (n.670-1G>T) c.1675-1G>T (n.1675-1G>T) c.1129-1G>T (n.1129-1G>T)	gnomAD v4
2	g.168944962C>G	CA349128113	ABCB11	c.661-1G>C (n.661-1G>C) c.2344-1G>C (n.2344-1G>C) c.1033-1G>C (n.1033-1G>C) c.2386-1G>C (n.2386-1G>C) c.2446-1G>C (n.2446-1G>C) c.670-1G>C (n.670-1G>C) c.1675-1G>C (n.1675-1G>C) c.1129-1G>C (n.1129-1G>C)
2	g.168944962C>T	CA349128114	ABCB11	c.661-1G>A (n.661-1G>A) c.2344-1G>A (n.2344-1G>A) c.1033-1G>A (n.1033-1G>A) c.2386-1G>A (n.2386-1G>A) c.2446-1G>A (n.2446-1G>A) c.670-1G>A (n.670-1G>A) c.1675-1G>A (n.1675-1G>A) c.1129-1G>A (n.1129-1G>A)
2	g.168944963T>A	CA349128117	ABCB11	c.661-2A>T (n.661-2A>T) c.2344-2A>T (n.2344-2A>T) c.1033-2A>T (n.1033-2A>T) c.2386-2A>T (n.2386-2A>T) c.2446-2A>T (n.2446-2A>T) c.670-2A>T (n.670-2A>T) c.1675-2A>T (n.1675-2A>T) c.1129-2A>T (n.1129-2A>T)
2	g.168944963T>C	CA349128119	ABCB11	c.661-2A>G (n.661-2A>G) c.2344-2A>G (n.2344-2A>G) c.1033-2A>G (n.1033-2A>G) c.2386-2A>G (n.2386-2A>G) c.2446-2A>G (n.2446-2A>G) c.670-2A>G (n.670-2A>G) c.1675-2A>G (n.1675-2A>G) c.1129-2A>G (n.1129-2A>G)
2	g.168944963T>G	CA349128121	ABCB11	c.661-2A>C (n.661-2A>C) c.2344-2A>C (n.2344-2A>C) c.1033-2A>C (n.1033-2A>C) c.2386-2A>C (n.2386-2A>C) c.2446-2A>C (n.2446-2A>C) c.670-2A>C (n.670-2A>C) c.1675-2A>C (n.1675-2A>C) c.1129-2A>C (n.1129-2A>C)
2	g.168944965G>A	CA1039029876	ABCB11	c.661-4C>T (n.661-4C>T) c.2344-4C>T (n.2344-4C>T) c.1033-4C>T (n.1033-4C>T) c.2386-4C>T (n.2386-4C>T) c.2446-4C>T (n.2446-4C>T) c.670-4C>T (n.670-4C>T) c.1675-4C>T (n.1675-4C>T) c.1129-4C>T (n.1129-4C>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.168944965G>T	CA2661805288	ABCB11	c.661-4C>A (n.661-4C>A) c.2344-4C>A (n.2344-4C>A) c.1033-4C>A (n.1033-4C>A) c.2386-4C>A (n.2386-4C>A) c.2446-4C>A (n.2446-4C>A) c.670-4C>A (n.670-4C>A) c.1675-4C>A (n.1675-4C>A) c.1129-4C>A (n.1129-4C>A)	gnomAD v4
2	g.168944965_168944969delinsGGAAA	CA1306207463	ABCB11	c.661-8_661-4delinsTTTCC (n.661-8_661-4delinsTTTCC) c.2344-8_2344-4delinsTTTCC (n.2344-8_2344-4delinsTTTCC) c.1033-8_1033-4delinsTTTCC (n.1033-8_1033-4delinsTTTCC) c.2386-8_2386-4delinsTTTCC (n.2386-8_2386-4delinsTTTCC) c.2446-8_2446-4delinsTTTCC (n.2446-8_2446-4delinsTTTCC) c.670-8_670-4delinsTTTCC (n.670-8_670-4delinsTTTCC) c.1675-8_1675-4delinsTTTCC (n.1675-8_1675-4delinsTTTCC) c.1129-8_1129-4delinsTTTCC (n.1129-8_1129-4delinsTTTCC)

Number of alleles fetched