Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.168944698C>ACA349126544ABCB11c.834G>T (p.Met278Ile)
c.2517G>T (p.Met839Ile)
c.1206G>T (n.1206G>T)
c.2559G>T (p.Met853Ile)
c.2619G>T (p.Met873Ile)
c.843G>T (p.Met281Ile)
c.1848G>T (p.Met616Ile)
c.1302G>T (p.Met434Ile)
2g.168944698C=CA1306207180ABCB11c.834G= (p.Met278=)
c.2517G= (p.Met839=)
c.1206G= (n.1206G=)
c.2559G= (p.Met853=)
c.2619G= (p.Met873=)
c.843G= (p.Met281=)
c.1848G= (p.Met616=)
c.1302G= (p.Met434=)
2g.168944698C>GCA349126549ABCB11c.834G>C (p.Met278Ile)
c.2517G>C (p.Met839Ile)
c.1206G>C (n.1206G>C)
c.2559G>C (p.Met853Ile)
c.2619G>C (p.Met873Ile)
c.843G>C (p.Met281Ile)
c.1848G>C (p.Met616Ile)
c.1302G>C (p.Met434Ile)
2g.168944698C>TCA349126547ABCB11c.834G>A (p.Met278Ile)
c.2517G>A (p.Met839Ile)
c.1206G>A (n.1206G>A)
c.2559G>A (p.Met853Ile)
c.2619G>A (p.Met873Ile)
c.843G>A (p.Met281Ile)
c.1848G>A (p.Met616Ile)
c.1302G>A (p.Met434Ile)
 dbSNP
2g.168944699A=CA1306207182ABCB11c.833T= (p.Met278=)
c.2516T= (p.Met839=)
c.1205T= (n.1205T=)
c.2558T= (p.Met853=)
c.2618T= (p.Met873=)
c.842T= (p.Met281=)
c.1847T= (p.Met616=)
c.1301T= (p.Met434=)
2g.168944699A>CCA349126552ABCB11c.833T>G (p.Met278Arg)
c.2516T>G (p.Met839Arg)
c.1205T>G (n.1205T>G)
c.2558T>G (p.Met853Arg)
c.2618T>G (p.Met873Arg)
c.842T>G (p.Met281Arg)
c.1847T>G (p.Met616Arg)
c.1301T>G (p.Met434Arg)
2g.168944699A>GCA1951258ABCB11c.833T>C (p.Met278Thr)
c.2516T>C (p.Met839Thr)
c.1205T>C (n.1205T>C)
c.2558T>C (p.Met853Thr)
c.2618T>C (p.Met873Thr)
c.842T>C (p.Met281Thr)
c.1847T>C (p.Met616Thr)
c.1301T>C (p.Met434Thr)
 dbSNP ExAC gnomAD v2
2g.168944699A>TCA349126557ABCB11c.833T>A (p.Met278Lys)
c.2516T>A (p.Met839Lys)
c.1205T>A (n.1205T>A)
c.2558T>A (p.Met853Lys)
c.2618T>A (p.Met873Lys)
c.842T>A (p.Met281Lys)
c.1847T>A (p.Met616Lys)
c.1301T>A (p.Met434Lys)
2g.168944700T>ACA349126561ABCB11c.832A>T (p.Met278Leu)
c.2515A>T (p.Met839Leu)
c.1204A>T (n.1204A>T)
c.2557A>T (p.Met853Leu)
c.2617A>T (p.Met873Leu)
c.841A>T (p.Met281Leu)
c.1846A>T (p.Met616Leu)
c.1300A>T (p.Met434Leu)
2g.168944700T>CCA1951259ABCB11c.832A>G (p.Met278Val)
c.2515A>G (p.Met839Val)
c.1204A>G (n.1204A>G)
c.2557A>G (p.Met853Val)
c.2617A>G (p.Met873Val)
c.841A>G (p.Met281Val)
c.1846A>G (p.Met616Val)
c.1300A>G (p.Met434Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168944700T>GCA349126567ABCB11c.832A>C (p.Met278Leu)
c.2515A>C (p.Met839Leu)
c.1204A>C (n.1204A>C)
c.2557A>C (p.Met853Leu)
c.2617A>C (p.Met873Leu)
c.841A>C (p.Met281Leu)
c.1846A>C (p.Met616Leu)
c.1300A>C (p.Met434Leu)
2g.168944700T=CA1306207184ABCB11c.832A= (p.Met278=)
c.2515A= (p.Met839=)
c.1204A= (n.1204A=)
c.2557A= (p.Met853=)
c.2617A= (p.Met873=)
c.841A= (p.Met281=)
c.1846A= (p.Met616=)
c.1300A= (p.Met434=)
2g.168944701T>ACA429985284ABCB11c.831A>T (p.Ala277=)
c.2514A>T (p.Ala838=)
c.1203A>T (n.1203A>T)
c.2556A>T (p.Ala852=)
c.2616A>T (p.Ala872=)
c.840A>T (p.Ala280=)
c.1845A>T (p.Ala615=)
c.1299A>T (p.Ala433=)
2g.168944701T>CCA429985282ABCB11c.831A>G (p.Ala277=)
c.2514A>G (p.Ala838=)
c.1203A>G (n.1203A>G)
c.2556A>G (p.Ala852=)
c.2616A>G (p.Ala872=)
c.840A>G (p.Ala280=)
c.1845A>G (p.Ala615=)
c.1299A>G (p.Ala433=)
 gnomAD v4
2g.168944701T>GCA429985283ABCB11c.831A>C (p.Ala277=)
c.2514A>C (p.Ala838=)
c.1203A>C (n.1203A>C)
c.2556A>C (p.Ala852=)
c.2616A>C (p.Ala872=)
c.840A>C (p.Ala280=)
c.1845A>C (p.Ala615=)
c.1299A>C (p.Ala433=)
2g.168944702G>ACA349126575ABCB11c.830C>T (p.Ala277Val)
c.2513C>T (p.Ala838Val)
c.1202C>T (n.1202C>T)
c.2555C>T (p.Ala852Val)
c.2615C>T (p.Ala872Val)
c.839C>T (p.Ala280Val)
c.1844C>T (p.Ala615Val)
c.1298C>T (p.Ala433Val)
2g.168944702G>CCA349126571ABCB11c.830C>G (p.Ala277Gly)
c.2513C>G (p.Ala838Gly)
c.1202C>G (n.1202C>G)
c.2555C>G (p.Ala852Gly)
c.2615C>G (p.Ala872Gly)
c.839C>G (p.Ala280Gly)
c.1844C>G (p.Ala615Gly)
c.1298C>G (p.Ala433Gly)
2g.168944702G>TCA349126574ABCB11c.830C>A (p.Ala277Glu)
c.2513C>A (p.Ala838Glu)
c.1202C>A (n.1202C>A)
c.2555C>A (p.Ala852Glu)
c.2615C>A (p.Ala872Glu)
c.839C>A (p.Ala280Glu)
c.1844C>A (p.Ala615Glu)
c.1298C>A (p.Ala433Glu)
2g.168944703C>ACA349126578ABCB11c.829G>T (p.Ala277Ser)
c.2512G>T (p.Ala838Ser)
c.1201G>T (n.1201G>T)
c.2554G>T (p.Ala852Ser)
c.2614G>T (p.Ala872Ser)
c.838G>T (p.Ala280Ser)
c.1843G>T (p.Ala615Ser)
c.1297G>T (p.Ala433Ser)
2g.168944703C=CA1306207186ABCB11c.829G= (p.Ala277=)
c.2512G= (p.Ala838=)
c.1201G= (n.1201G=)
c.2554G= (p.Ala852=)
c.2614G= (p.Ala872=)
c.838G= (p.Ala280=)
c.1843G= (p.Ala615=)
c.1297G= (p.Ala433=)
2g.168944703C>GCA349126588ABCB11c.829G>C (p.Ala277Pro)
c.2512G>C (p.Ala838Pro)
c.1201G>C (n.1201G>C)
c.2554G>C (p.Ala852Pro)
c.2614G>C (p.Ala872Pro)
c.838G>C (p.Ala280Pro)
c.1843G>C (p.Ala615Pro)
c.1297G>C (p.Ala433Pro)
2g.168944703C>TCA349126591ABCB11c.829G>A (p.Ala277Thr)
c.2512G>A (p.Ala838Thr)
c.1201G>A (n.1201G>A)
c.2554G>A (p.Ala852Thr)
c.2614G>A (p.Ala872Thr)
c.838G>A (p.Ala280Thr)
c.1843G>A (p.Ala615Thr)
c.1297G>A (p.Ala433Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.168944704C>ACA349126594ABCB11c.828G>T (p.Arg276Ser)
c.2511G>T (p.Arg837Ser)
c.1200G>T (n.1200G>T)
c.2553G>T (p.Arg851Ser)
c.2613G>T (p.Arg871Ser)
c.837G>T (p.Arg279Ser)
c.1842G>T (p.Arg614Ser)
c.1296G>T (p.Arg432Ser)
2g.168944704C>GCA349126595ABCB11c.828G>C (p.Arg276Ser)
c.2511G>C (p.Arg837Ser)
c.1200G>C (n.1200G>C)
c.2553G>C (p.Arg851Ser)
c.2613G>C (p.Arg871Ser)
c.837G>C (p.Arg279Ser)
c.1842G>C (p.Arg614Ser)
c.1296G>C (p.Arg432Ser)
2g.168944704C>TCA429985288ABCB11c.828G>A (p.Arg276=)
c.2511G>A (p.Arg837=)
c.1200G>A (n.1200G>A)
c.2553G>A (p.Arg851=)
c.2613G>A (p.Arg871=)
c.837G>A (p.Arg279=)
c.1842G>A (p.Arg614=)
c.1296G>A (p.Arg432=)
 gnomAD v4
2g.168944705C>ACA349126597ABCB11c.827G>T (p.Arg276Met)
c.2510G>T (p.Arg837Met)
c.1199G>T (n.1199G>T)
c.2552G>T (p.Arg851Met)
c.2612G>T (p.Arg871Met)
c.836G>T (p.Arg279Met)
c.1841G>T (p.Arg614Met)
c.1295G>T (p.Arg432Met)
2g.168944705C>GCA349126611ABCB11c.827G>C (p.Arg276Thr)
c.2510G>C (p.Arg837Thr)
c.1199G>C (n.1199G>C)
c.2552G>C (p.Arg851Thr)
c.2612G>C (p.Arg871Thr)
c.836G>C (p.Arg279Thr)
c.1841G>C (p.Arg614Thr)
c.1295G>C (p.Arg432Thr)
2g.168944705C>TCA349126600ABCB11c.827G>A (p.Arg276Lys)
c.2510G>A (p.Arg837Lys)
c.1199G>A (n.1199G>A)
c.2552G>A (p.Arg851Lys)
c.2612G>A (p.Arg871Lys)
c.836G>A (p.Arg279Lys)
c.1841G>A (p.Arg614Lys)
c.1295G>A (p.Arg432Lys)
2g.168944706T>ACA349126613ABCB11c.826A>T (p.Arg276Trp)
c.2509A>T (p.Arg837Trp)
c.1198A>T (n.1198A>T)
c.2551A>T (p.Arg851Trp)
c.2611A>T (p.Arg871Trp)
c.835A>T (p.Arg279Trp)
c.1840A>T (p.Arg614Trp)
c.1294A>T (p.Arg432Trp)
2g.168944706T>CCA349126616ABCB11c.826A>G (p.Arg276Gly)
c.2509A>G (p.Arg837Gly)
c.1198A>G (n.1198A>G)
c.2551A>G (p.Arg851Gly)
c.2611A>G (p.Arg871Gly)
c.835A>G (p.Arg279Gly)
c.1840A>G (p.Arg614Gly)
c.1294A>G (p.Arg432Gly)
2g.168944706T>GCA429985292ABCB11c.826A>C (p.Arg276=)
c.2509A>C (p.Arg837=)
c.1198A>C (n.1198A>C)
c.2551A>C (p.Arg851=)
c.2611A>C (p.Arg871=)
c.835A>C (p.Arg279=)
c.1840A>C (p.Arg614=)
c.1294A>C (p.Arg432=)
2g.168944707G>ACA429985293ABCB11c.825C>T (p.Phe275=)
c.2508C>T (p.Phe836=)
c.1197C>T (n.1197C>T)
c.2550C>T (p.Phe850=)
c.2610C>T (p.Phe870=)
c.834C>T (p.Phe278=)
c.1839C>T (p.Phe613=)
c.1293C>T (p.Phe431=)
2g.168944707G>CCA349126618ABCB11c.825C>G (p.Phe275Leu)
c.2508C>G (p.Phe836Leu)
c.1197C>G (n.1197C>G)
c.2550C>G (p.Phe850Leu)
c.2610C>G (p.Phe870Leu)
c.834C>G (p.Phe278Leu)
c.1839C>G (p.Phe613Leu)
c.1293C>G (p.Phe431Leu)
2g.168944707G>TCA349126622ABCB11c.825C>A (p.Phe275Leu)
c.2508C>A (p.Phe836Leu)
c.1197C>A (n.1197C>A)
c.2550C>A (p.Phe850Leu)
c.2610C>A (p.Phe870Leu)
c.834C>A (p.Phe278Leu)
c.1839C>A (p.Phe613Leu)
c.1293C>A (p.Phe431Leu)
2g.168944708A>CCA349126624ABCB11c.824T>G (p.Phe275Cys)
c.2507T>G (p.Phe836Cys)
c.1196T>G (n.1196T>G)
c.2549T>G (p.Phe850Cys)
c.2609T>G (p.Phe870Cys)
c.833T>G (p.Phe278Cys)
c.1838T>G (p.Phe613Cys)
c.1292T>G (p.Phe431Cys)
2g.168944708A>GCA349126627ABCB11c.824T>C (p.Phe275Ser)
c.2507T>C (p.Phe836Ser)
c.1196T>C (n.1196T>C)
c.2549T>C (p.Phe850Ser)
c.2609T>C (p.Phe870Ser)
c.833T>C (p.Phe278Ser)
c.1838T>C (p.Phe613Ser)
c.1292T>C (p.Phe431Ser)
2g.168944708A>TCA349126629ABCB11c.824T>A (p.Phe275Tyr)
c.2507T>A (p.Phe836Tyr)
c.1196T>A (n.1196T>A)
c.2549T>A (p.Phe850Tyr)
c.2609T>A (p.Phe870Tyr)
c.833T>A (p.Phe278Tyr)
c.1838T>A (p.Phe613Tyr)
c.1292T>A (p.Phe431Tyr)
2g.168944709A>CCA349126631ABCB11c.823T>G (p.Phe275Val)
c.2506T>G (p.Phe836Val)
c.1195T>G (n.1195T>G)
c.2548T>G (p.Phe850Val)
c.2608T>G (p.Phe870Val)
c.832T>G (p.Phe278Val)
c.1837T>G (p.Phe613Val)
c.1291T>G (p.Phe431Val)
2g.168944709A>GCA349126632ABCB11c.823T>C (p.Phe275Leu)
c.2506T>C (p.Phe836Leu)
c.1195T>C (n.1195T>C)
c.2548T>C (p.Phe850Leu)
c.2608T>C (p.Phe870Leu)
c.832T>C (p.Phe278Leu)
c.1837T>C (p.Phe613Leu)
c.1291T>C (p.Phe431Leu)
2g.168944709A>TCA349126633ABCB11c.823T>A (p.Phe275Ile)
c.2506T>A (p.Phe836Ile)
c.1195T>A (n.1195T>A)
c.2548T>A (p.Phe850Ile)
c.2608T>A (p.Phe870Ile)
c.832T>A (p.Phe278Ile)
c.1837T>A (p.Phe613Ile)
c.1291T>A (p.Phe431Ile)
2g.168944710A>CCA429985295ABCB11c.822T>G (p.Gly274=)
c.2505T>G (p.Gly835=)
c.1194T>G (n.1194T>G)
c.2547T>G (p.Gly849=)
c.2607T>G (p.Gly869=)
c.831T>G (p.Gly277=)
c.1836T>G (p.Gly612=)
c.1290T>G (p.Gly430=)
2g.168944710A>GCA429985296ABCB11c.822T>C (p.Gly274=)
c.2505T>C (p.Gly835=)
c.1194T>C (n.1194T>C)
c.2547T>C (p.Gly849=)
c.2607T>C (p.Gly869=)
c.831T>C (p.Gly277=)
c.1836T>C (p.Gly612=)
c.1290T>C (p.Gly430=)
2g.168944710A>TCA429985297ABCB11c.822T>A (p.Gly274=)
c.2505T>A (p.Gly835=)
c.1194T>A (n.1194T>A)
c.2547T>A (p.Gly849=)
c.2607T>A (p.Gly869=)
c.831T>A (p.Gly277=)
c.1836T>A (p.Gly612=)
c.1290T>A (p.Gly430=)
2g.168944711C>ACA349126641ABCB11c.821G>T (p.Gly274Val)
c.2504G>T (p.Gly835Val)
c.1193G>T (n.1193G>T)
c.2546G>T (p.Gly849Val)
c.2606G>T (p.Gly869Val)
c.830G>T (p.Gly277Val)
c.1835G>T (p.Gly612Val)
c.1289G>T (p.Gly430Val)
 gnomAD v4
2g.168944711C>GCA349126638ABCB11c.821G>C (p.Gly274Ala)
c.2504G>C (p.Gly835Ala)
c.1193G>C (n.1193G>C)
c.2546G>C (p.Gly849Ala)
c.2606G>C (p.Gly869Ala)
c.830G>C (p.Gly277Ala)
c.1835G>C (p.Gly612Ala)
c.1289G>C (p.Gly430Ala)
2g.168944711C>TCA349126636ABCB11c.821G>A (p.Gly274Asp)
c.2504G>A (p.Gly835Asp)
c.1193G>A (n.1193G>A)
c.2546G>A (p.Gly849Asp)
c.2606G>A (p.Gly869Asp)
c.830G>A (p.Gly277Asp)
c.1835G>A (p.Gly612Asp)
c.1289G>A (p.Gly430Asp)
2g.168944712C>ACA349126643ABCB11c.820G>T (p.Gly274Cys)
c.2503G>T (p.Gly835Cys)
c.1192G>T (n.1192G>T)
c.2545G>T (p.Gly849Cys)
c.2605G>T (p.Gly869Cys)
c.829G>T (p.Gly277Cys)
c.1834G>T (p.Gly612Cys)
c.1288G>T (p.Gly430Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.168944712C=CA1306207188ABCB11c.820G= (p.Gly274=)
c.2503G= (p.Gly835=)
c.1192G= (n.1192G=)
c.2545G= (p.Gly849=)
c.2605G= (p.Gly869=)
c.829G= (p.Gly277=)
c.1834G= (p.Gly612=)
c.1288G= (p.Gly430=)
2g.168944712C>GCA349126657ABCB11c.820G>C (p.Gly274Arg)
c.2503G>C (p.Gly835Arg)
c.1192G>C (n.1192G>C)
c.2545G>C (p.Gly849Arg)
c.2605G>C (p.Gly869Arg)
c.829G>C (p.Gly277Arg)
c.1834G>C (p.Gly612Arg)
c.1288G>C (p.Gly430Arg)
2g.168944712C>TCA349126646ABCB11c.820G>A (p.Gly274Ser)
c.2503G>A (p.Gly835Ser)
c.1192G>A (n.1192G>A)
c.2545G>A (p.Gly849Ser)
c.2605G>A (p.Gly869Ser)
c.829G>A (p.Gly277Ser)
c.1834G>A (p.Gly612Ser)
c.1288G>A (p.Gly430Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.168944713A=CA1306207190ABCB11c.819T= (p.Phe273=)
c.2502T= (p.Phe834=)
c.1191T= (n.1191T=)
c.2544T= (p.Phe848=)
c.2604T= (p.Phe868=)
c.828T= (p.Phe276=)
c.1833T= (p.Phe611=)
c.1287T= (p.Phe429=)
2g.168944713A>CCA349126659ABCB11c.819T>G (p.Phe273Leu)
c.2502T>G (p.Phe834Leu)
c.1191T>G (n.1191T>G)
c.2544T>G (p.Phe848Leu)
c.2604T>G (p.Phe868Leu)
c.828T>G (p.Phe276Leu)
c.1833T>G (p.Phe611Leu)
c.1287T>G (p.Phe429Leu)
2g.168944713A>GCA429985300ABCB11c.819T>C (p.Phe273=)
c.2502T>C (p.Phe834=)
c.1191T>C (n.1191T>C)
c.2544T>C (p.Phe848=)
c.2604T>C (p.Phe868=)
c.828T>C (p.Phe276=)
c.1833T>C (p.Phe611=)
c.1287T>C (p.Phe429=)
2g.168944713A>TCA1951260ABCB11c.819T>A (p.Phe273Leu)
c.2502T>A (p.Phe834Leu)
c.1191T>A (n.1191T>A)
c.2544T>A (p.Phe848Leu)
c.2604T>A (p.Phe868Leu)
c.828T>A (p.Phe276Leu)
c.1833T>A (p.Phe611Leu)
c.1287T>A (p.Phe429Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.168944714A>CCA349126666ABCB11c.818T>G (p.Phe273Cys)
c.2501T>G (p.Phe834Cys)
c.1190T>G (n.1190T>G)
c.2543T>G (p.Phe848Cys)
c.2603T>G (p.Phe868Cys)
c.827T>G (p.Phe276Cys)
c.1832T>G (p.Phe611Cys)
c.1286T>G (p.Phe429Cys)
 gnomAD v4
2g.168944714A>GCA349126668ABCB11c.818T>C (p.Phe273Ser)
c.2501T>C (p.Phe834Ser)
c.1190T>C (n.1190T>C)
c.2543T>C (p.Phe848Ser)
c.2603T>C (p.Phe868Ser)
c.827T>C (p.Phe276Ser)
c.1832T>C (p.Phe611Ser)
c.1286T>C (p.Phe429Ser)
2g.168944714A>TCA349126669ABCB11c.818T>A (p.Phe273Tyr)
c.2501T>A (p.Phe834Tyr)
c.1190T>A (n.1190T>A)
c.2543T>A (p.Phe848Tyr)
c.2603T>A (p.Phe868Tyr)
c.827T>A (p.Phe276Tyr)
c.1832T>A (p.Phe611Tyr)
c.1286T>A (p.Phe429Tyr)
2g.168944715A>CCA349126673ABCB11c.817T>G (p.Phe273Val)
c.2500T>G (p.Phe834Val)
c.1189T>G (n.1189T>G)
c.2542T>G (p.Phe848Val)
c.2602T>G (p.Phe868Val)
c.826T>G (p.Phe276Val)
c.1831T>G (p.Phe611Val)
c.1285T>G (p.Phe429Val)
2g.168944715A>GCA349126675ABCB11c.817T>C (p.Phe273Leu)
c.2500T>C (p.Phe834Leu)
c.1189T>C (n.1189T>C)
c.2542T>C (p.Phe848Leu)
c.2602T>C (p.Phe868Leu)
c.826T>C (p.Phe276Leu)
c.1831T>C (p.Phe611Leu)
c.1285T>C (p.Phe429Leu)
2g.168944715A>TCA349126678ABCB11c.817T>A (p.Phe273Ile)
c.2500T>A (p.Phe834Ile)
c.1189T>A (n.1189T>A)
c.2542T>A (p.Phe848Ile)
c.2602T>A (p.Phe868Ile)
c.826T>A (p.Phe276Ile)
c.1831T>A (p.Phe611Ile)
c.1285T>A (p.Phe429Ile)
2g.168944716T>ACA349126679ABCB11c.816A>T (p.Lys272Asn)
c.2499A>T (p.Lys833Asn)
c.1188A>T (n.1188A>T)
c.2541A>T (p.Lys847Asn)
c.2601A>T (p.Lys867Asn)
c.825A>T (p.Lys275Asn)
c.1830A>T (p.Lys610Asn)
c.1284A>T (p.Lys428Asn)
2g.168944716T>CCA429985304ABCB11c.816A>G (p.Lys272=)
c.2499A>G (p.Lys833=)
c.1188A>G (n.1188A>G)
c.2541A>G (p.Lys847=)
c.2601A>G (p.Lys867=)
c.825A>G (p.Lys275=)
c.1830A>G (p.Lys610=)
c.1284A>G (p.Lys428=)
 COSMIC
2g.168944716T>GCA1951261ABCB11c.816A>C (p.Lys272Asn)
c.2499A>C (p.Lys833Asn)
c.1188A>C (n.1188A>C)
c.2541A>C (p.Lys847Asn)
c.2601A>C (p.Lys867Asn)
c.825A>C (p.Lys275Asn)
c.1830A>C (p.Lys610Asn)
c.1284A>C (p.Lys428Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.168944716T=CA1306207191ABCB11c.816A= (p.Lys272=)
c.2499A= (p.Lys833=)
c.1188A= (n.1188A=)
c.2541A= (p.Lys847=)
c.2601A= (p.Lys867=)
c.825A= (p.Lys275=)
c.1830A= (p.Lys610=)
c.1284A= (p.Lys428=)
2g.168944717T>ACA349126680ABCB11c.815A>T (p.Lys272Ile)
c.2498A>T (p.Lys833Ile)
c.1187A>T (n.1187A>T)
c.2540A>T (p.Lys847Ile)
c.2600A>T (p.Lys867Ile)
c.824A>T (p.Lys275Ile)
c.1829A>T (p.Lys610Ile)
c.1283A>T (p.Lys428Ile)
2g.168944717T>CCA349126681ABCB11c.815A>G (p.Lys272Arg)
c.2498A>G (p.Lys833Arg)
c.1187A>G (n.1187A>G)
c.2540A>G (p.Lys847Arg)
c.2600A>G (p.Lys867Arg)
c.824A>G (p.Lys275Arg)
c.1829A>G (p.Lys610Arg)
c.1283A>G (p.Lys428Arg)
2g.168944717T>GCA349126682ABCB11c.815A>C (p.Lys272Thr)
c.2498A>C (p.Lys833Thr)
c.1187A>C (n.1187A>C)
c.2540A>C (p.Lys847Thr)
c.2600A>C (p.Lys867Thr)
c.824A>C (p.Lys275Thr)
c.1829A>C (p.Lys610Thr)
c.1283A>C (p.Lys428Thr)
2g.168944718T>ACA349126689ABCB11c.814A>T (p.Lys272Ter)
c.2497A>T (p.Lys833Ter)
c.1186A>T (n.1186A>T)
c.2539A>T (p.Lys847Ter)
c.2599A>T (p.Lys867Ter)
c.823A>T (p.Lys275Ter)
c.1828A>T (p.Lys610Ter)
c.1282A>T (p.Lys428Ter)
2g.168944718T>CCA349126684ABCB11c.814A>G (p.Lys272Glu)
c.2497A>G (p.Lys833Glu)
c.1186A>G (n.1186A>G)
c.2539A>G (p.Lys847Glu)
c.2599A>G (p.Lys867Glu)
c.823A>G (p.Lys275Glu)
c.1828A>G (p.Lys610Glu)
c.1282A>G (p.Lys428Glu)
 gnomAD v4
2g.168944718T>GCA349126685ABCB11c.814A>C (p.Lys272Gln)
c.2497A>C (p.Lys833Gln)
c.1186A>C (n.1186A>C)
c.2539A>C (p.Lys847Gln)
c.2599A>C (p.Lys867Gln)
c.823A>C (p.Lys275Gln)
c.1828A>C (p.Lys610Gln)
c.1282A>C (p.Lys428Gln)
 COSMIC
2g.168944719A>CCA429985306ABCB11c.813T>G (p.Arg271=)
c.2496T>G (p.Arg832=)
c.1185T>G (n.1185T>G)
c.2538T>G (p.Arg846=)
c.2598T>G (p.Arg866=)
c.822T>G (p.Arg274=)
c.1827T>G (p.Arg609=)
c.1281T>G (p.Arg427=)
2g.168944719A>GCA429985307ABCB11c.813T>C (p.Arg271=)
c.2496T>C (p.Arg832=)
c.1185T>C (n.1185T>C)
c.2538T>C (p.Arg846=)
c.2598T>C (p.Arg866=)
c.822T>C (p.Arg274=)
c.1827T>C (p.Arg609=)
c.1281T>C (p.Arg427=)
2g.168944719A>TCA429985308ABCB11c.813T>A (p.Arg271=)
c.2496T>A (p.Arg832=)
c.1185T>A (n.1185T>A)
c.2538T>A (p.Arg846=)
c.2598T>A (p.Arg866=)
c.822T>A (p.Arg274=)
c.1827T>A (p.Arg609=)
c.1281T>A (p.Arg427=)
2g.168944719_168944720delinsACCA1306207193ABCB11c.812_813delinsGT (p.Arg271=)
c.2495_2496delinsGT (p.Arg832=)
c.1184_1185delinsGT (n.1184_1185delinsGT)
c.2537_2538delinsGT (p.Arg846=)
c.2597_2598delinsGT (p.Arg866=)
c.821_822delinsGT (p.Arg274=)
c.1826_1827delinsGT (p.Arg609=)
c.1280_1281delinsGT (p.Arg427=)
2g.168944720delCA915942946ABCB11c.812del (p.Arg271LeufsTer26)
c.2495del (p.Arg832LeufsTer26)
c.1184del (n.1184del)
c.2537del (p.Arg846LeufsTer26)
c.2597del (p.Arg866LeufsTer26)
c.821del (p.Arg274LeufsTer26)
c.1826del (p.Arg609LeufsTer26)
c.1280del (p.Arg427LeufsTer26)
 ClinVar dbSNP
2g.168944720C>ACA349126695ABCB11c.812G>T (p.Arg271Leu)
c.2495G>T (p.Arg832Leu)
c.1184G>T (n.1184G>T)
c.2537G>T (p.Arg846Leu)
c.2597G>T (p.Arg866Leu)
c.821G>T (p.Arg274Leu)
c.1826G>T (p.Arg609Leu)
c.1280G>T (p.Arg427Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.168944720C=CA1306207194ABCB11c.812G= (p.Arg271=)
c.2495G= (p.Arg832=)
c.1184G= (n.1184G=)
c.2537G= (p.Arg846=)
c.2597G= (p.Arg866=)
c.821G= (p.Arg274=)
c.1826G= (p.Arg609=)
c.1280G= (p.Arg427=)
2g.168944720C>GCA349126697ABCB11c.812G>C (p.Arg271Pro)
c.2495G>C (p.Arg832Pro)
c.1184G>C (n.1184G>C)
c.2537G>C (p.Arg846Pro)
c.2597G>C (p.Arg866Pro)
c.821G>C (p.Arg274Pro)
c.1826G>C (p.Arg609Pro)
c.1280G>C (p.Arg427Pro)
2g.168944720C>TCA59880798ABCB11c.812G>A (p.Arg271His)
c.2495G>A (p.Arg832His)
c.1184G>A (n.1184G>A)
c.2537G>A (p.Arg846His)
c.2597G>A (p.Arg866His)
c.821G>A (p.Arg274His)
c.1826G>A (p.Arg609His)
c.1280G>A (p.Arg427His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.168944721G>ACA1951262ABCB11c.811C>T (p.Arg271Cys)
c.2494C>T (p.Arg832Cys)
c.1183C>T (n.1183C>T)
c.2536C>T (p.Arg846Cys)
c.2596C>T (p.Arg866Cys)
c.820C>T (p.Arg274Cys)
c.1825C>T (p.Arg609Cys)
c.1279C>T (p.Arg427Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.168944721G>CCA349126706ABCB11c.811C>G (p.Arg271Gly)
c.2494C>G (p.Arg832Gly)
c.1183C>G (n.1183C>G)
c.2536C>G (p.Arg846Gly)
c.2596C>G (p.Arg866Gly)
c.820C>G (p.Arg274Gly)
c.1825C>G (p.Arg609Gly)
c.1279C>G (p.Arg427Gly)
2g.168944721G=CA1306207198ABCB11c.811C= (p.Arg271=)
c.2494C= (p.Arg832=)
c.1183C= (n.1183C=)
c.2536C= (p.Arg846=)
c.2596C= (p.Arg866=)
c.820C= (p.Arg274=)
c.1825C= (p.Arg609=)
c.1279C= (p.Arg427=)
2g.168944721G>TCA349126708ABCB11c.811C>A (p.Arg271Ser)
c.2494C>A (p.Arg832Ser)
c.1183C>A (n.1183C>A)
c.2536C>A (p.Arg846Ser)
c.2596C>A (p.Arg866Ser)
c.820C>A (p.Arg274Ser)
c.1825C>A (p.Arg609Ser)
c.1279C>A (p.Arg427Ser)
2g.168944722T>ACA429985312ABCB11c.810A>T (p.Leu270=)
c.2493A>T (p.Leu831=)
c.1182A>T (n.1182A>T)
c.2535A>T (p.Leu845=)
c.2595A>T (p.Leu865=)
c.819A>T (p.Leu273=)
c.1824A>T (p.Leu608=)
c.1278A>T (p.Leu426=)
2g.168944722T>CCA429985313ABCB11c.810A>G (p.Leu270=)
c.2493A>G (p.Leu831=)
c.1182A>G (n.1182A>G)
c.2535A>G (p.Leu845=)
c.2595A>G (p.Leu865=)
c.819A>G (p.Leu273=)
c.1824A>G (p.Leu608=)
c.1278A>G (p.Leu426=)
 ClinVar dbSNP
2g.168944722T>GCA429985314ABCB11c.810A>C (p.Leu270=)
c.2493A>C (p.Leu831=)
c.1182A>C (n.1182A>C)
c.2535A>C (p.Leu845=)
c.2595A>C (p.Leu865=)
c.819A>C (p.Leu273=)
c.1824A>C (p.Leu608=)
c.1278A>C (p.Leu426=)
2g.168944723A=CA1306207199ABCB11c.809T= (p.Leu270=)
c.2492T= (p.Leu831=)
c.1181T= (n.1181T=)
c.2534T= (p.Leu845=)
c.2594T= (p.Leu865=)
c.818T= (p.Leu273=)
c.1823T= (p.Leu608=)
c.1277T= (p.Leu426=)
2g.168944723A>CCA349126711ABCB11c.809T>G (p.Leu270Arg)
c.2492T>G (p.Leu831Arg)
c.1181T>G (n.1181T>G)
c.2534T>G (p.Leu845Arg)
c.2594T>G (p.Leu865Arg)
c.818T>G (p.Leu273Arg)
c.1823T>G (p.Leu608Arg)
c.1277T>G (p.Leu426Arg)
2g.168944723A>GCA349126720ABCB11c.809T>C (p.Leu270Pro)
c.2492T>C (p.Leu831Pro)
c.1181T>C (n.1181T>C)
c.2534T>C (p.Leu845Pro)
c.2594T>C (p.Leu865Pro)
c.818T>C (p.Leu273Pro)
c.1823T>C (p.Leu608Pro)
c.1277T>C (p.Leu426Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.168944723A>TCA349126721ABCB11c.809T>A (p.Leu270Gln)
c.2492T>A (p.Leu831Gln)
c.1181T>A (n.1181T>A)
c.2534T>A (p.Leu845Gln)
c.2594T>A (p.Leu865Gln)
c.818T>A (p.Leu273Gln)
c.1823T>A (p.Leu608Gln)
c.1277T>A (p.Leu426Gln)
2g.168944724G>ACA429985315ABCB11c.808C>T (p.Leu270=)
c.2491C>T (p.Leu831=)
c.1180C>T (n.1180C>T)
c.2533C>T (p.Leu845=)
c.2593C>T (p.Leu865=)
c.817C>T (p.Leu273=)
c.1822C>T (p.Leu608=)
c.1276C>T (p.Leu426=)
 gnomAD v4 COSMIC COSMIC
2g.168944724G>CCA349126728ABCB11c.808C>G (p.Leu270Val)
c.2491C>G (p.Leu831Val)
c.1180C>G (n.1180C>G)
c.2533C>G (p.Leu845Val)
c.2593C>G (p.Leu865Val)
c.817C>G (p.Leu273Val)
c.1822C>G (p.Leu608Val)
c.1276C>G (p.Leu426Val)
2g.168944724G>TCA349126737ABCB11c.808C>A (p.Leu270Ile)
c.2491C>A (p.Leu831Ile)
c.1180C>A (n.1180C>A)
c.2533C>A (p.Leu845Ile)
c.2593C>A (p.Leu865Ile)
c.817C>A (p.Leu273Ile)
c.1822C>A (p.Leu608Ile)
c.1276C>A (p.Leu426Ile)
2g.168944725C>ACA349126745ABCB11c.807G>T (p.Arg269Ser)
c.2490G>T (p.Arg830Ser)
c.1179G>T (n.1179G>T)
c.2532G>T (p.Arg844Ser)
c.2592G>T (p.Arg864Ser)
c.816G>T (p.Arg272Ser)
c.1821G>T (p.Arg607Ser)
c.1275G>T (p.Arg425Ser)
2g.168944725C=CA1306207201ABCB11c.807G= (p.Arg269=)
c.2490G= (p.Arg830=)
c.1179G= (n.1179G=)
c.2532G= (p.Arg844=)
c.2592G= (p.Arg864=)
c.816G= (p.Arg272=)
c.1821G= (p.Arg607=)
c.1275G= (p.Arg425=)
2g.168944725C>GCA349126749ABCB11c.807G>C (p.Arg269Ser)
c.2490G>C (p.Arg830Ser)
c.1179G>C (n.1179G>C)
c.2532G>C (p.Arg844Ser)
c.2592G>C (p.Arg864Ser)
c.816G>C (p.Arg272Ser)
c.1821G>C (p.Arg607Ser)
c.1275G>C (p.Arg425Ser)
2g.168944725C>TCA1951263ABCB11c.807G>A (p.Arg269=)
c.2490G>A (p.Arg830=)
c.1179G>A (n.1179G>A)
c.2532G>A (p.Arg844=)
c.2592G>A (p.Arg864=)
c.816G>A (p.Arg272=)
c.1821G>A (p.Arg607=)
c.1275G>A (p.Arg425=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168944725_168944727delCA2661805094ABCB11c.805_807del (p.Arg269del)
c.2488_2490del (p.Arg830del)
c.1177_1179del (n.1177_1179del)
c.2530_2532del (p.Arg844del)
c.2590_2592del (p.Arg864del)
c.814_816del (p.Arg272del)
c.1819_1821del (p.Arg607del)
c.1273_1275del (p.Arg425del)
 gnomAD v4
2g.168944726C>ACA349126761ABCB11c.806G>T (p.Arg269Met)
c.2489G>T (p.Arg830Met)
c.1178G>T (n.1178G>T)
c.2531G>T (p.Arg844Met)
c.2591G>T (p.Arg864Met)
c.815G>T (p.Arg272Met)
c.1820G>T (p.Arg607Met)
c.1274G>T (p.Arg425Met)
 gnomAD v4
2g.168944726C=CA1306207204ABCB11c.806G= (p.Arg269=)
c.2489G= (p.Arg830=)
c.1178G= (n.1178G=)
c.2531G= (p.Arg844=)
c.2591G= (p.Arg864=)
c.815G= (p.Arg272=)
c.1820G= (p.Arg607=)
c.1274G= (p.Arg425=)
2g.168944726C>GCA1951265ABCB11c.806G>C (p.Arg269Thr)
c.2489G>C (p.Arg830Thr)
c.1178G>C (n.1178G>C)
c.2531G>C (p.Arg844Thr)
c.2591G>C (p.Arg864Thr)
c.815G>C (p.Arg272Thr)
c.1820G>C (p.Arg607Thr)
c.1274G>C (p.Arg425Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168944726C>TCA349126767ABCB11c.806G>A (p.Arg269Lys)
c.2489G>A (p.Arg830Lys)
c.1178G>A (n.1178G>A)
c.2531G>A (p.Arg844Lys)
c.2591G>A (p.Arg864Lys)
c.815G>A (p.Arg272Lys)
c.1820G>A (p.Arg607Lys)
c.1274G>A (p.Arg425Lys)
2g.168944726_168944727delinsCTCA1306207205ABCB11c.805_806delinsAG (p.Arg269=)
c.2488_2489delinsAG (p.Arg830=)
c.1177_1178delinsAG (n.1177_1178delinsAG)
c.2530_2531delinsAG (p.Arg844=)
c.2590_2591delinsAG (p.Arg864=)
c.814_815delinsAG (p.Arg272=)
c.1819_1820delinsAG (p.Arg607=)
c.1273_1274delinsAG (p.Arg425=)
2g.168944727T>ACA349126775ABCB11c.805A>T (p.Arg269Trp)
c.2488A>T (p.Arg830Trp)
c.1177A>T (n.1177A>T)
c.2530A>T (p.Arg844Trp)
c.2590A>T (p.Arg864Trp)
c.814A>T (p.Arg272Trp)
c.1819A>T (p.Arg607Trp)
c.1273A>T (p.Arg425Trp)
2g.168944727T>CCA349126779ABCB11c.805A>G (p.Arg269Gly)
c.2488A>G (p.Arg830Gly)
c.1177A>G (n.1177A>G)
c.2530A>G (p.Arg844Gly)
c.2590A>G (p.Arg864Gly)
c.814A>G (p.Arg272Gly)
c.1819A>G (p.Arg607Gly)
c.1273A>G (p.Arg425Gly)
2g.168944727T>GCA429985323ABCB11c.805A>C (p.Arg269=)
c.2488A>C (p.Arg830=)
c.1177A>C (n.1177A>C)
c.2530A>C (p.Arg844=)
c.2590A>C (p.Arg864=)
c.814A>C (p.Arg272=)
c.1819A>C (p.Arg607=)
c.1273A>C (p.Arg425=)
2g.168944727_168944731delCA2586970394ABCB11c.801_805del (p.Lys268AlafsTer3)
c.2484_2488del (p.Lys829AlafsTer3)
c.1173_1177del (n.1173_1177del)
c.2526_2530del (p.Lys843AlafsTer3)
c.2586_2590del (p.Lys863AlafsTer3)
c.810_814del (p.Lys271AlafsTer3)
c.1815_1819del (p.Lys606AlafsTer3)
c.1269_1273del (p.Lys424AlafsTer3)
2g.168944731delCA1951264ABCB11c.805del (p.Arg269GlyfsTer28)
c.2488del (p.Arg830GlyfsTer28)
c.1177del (n.1177del)
c.2530del (p.Arg844GlyfsTer28)
c.2590del (p.Arg864GlyfsTer28)
c.814del (p.Arg272GlyfsTer28)
c.1819del (p.Arg607GlyfsTer28)
c.1273del (p.Arg425GlyfsTer28)
 ClinVar dbSNP ExAC gnomAD v2
2g.168944728T>ACA349126814ABCB11c.804A>T (p.Lys268Asn)
c.2487A>T (p.Lys829Asn)
c.1176A>T (n.1176A>T)
c.2529A>T (p.Lys843Asn)
c.2589A>T (p.Lys863Asn)
c.813A>T (p.Lys271Asn)
c.1818A>T (p.Lys606Asn)
c.1272A>T (p.Lys424Asn)
2g.168944728T>CCA429985326ABCB11c.804A>G (p.Lys268=)
c.2487A>G (p.Lys829=)
c.1176A>G (n.1176A>G)
c.2529A>G (p.Lys843=)
c.2589A>G (p.Lys863=)
c.813A>G (p.Lys271=)
c.1818A>G (p.Lys606=)
c.1272A>G (p.Lys424=)
2g.168944728T>GCA349126835ABCB11c.804A>C (p.Lys268Asn)
c.2487A>C (p.Lys829Asn)
c.1176A>C (n.1176A>C)
c.2529A>C (p.Lys843Asn)
c.2589A>C (p.Lys863Asn)
c.813A>C (p.Lys271Asn)
c.1818A>C (p.Lys606Asn)
c.1272A>C (p.Lys424Asn)
2g.168944729T>ACA349126840ABCB11c.803A>T (p.Lys268Ile)
c.2486A>T (p.Lys829Ile)
c.1175A>T (n.1175A>T)
c.2528A>T (p.Lys843Ile)
c.2588A>T (p.Lys863Ile)
c.812A>T (p.Lys271Ile)
c.1817A>T (p.Lys606Ile)
c.1271A>T (p.Lys424Ile)
2g.168944729T>CCA349126843ABCB11c.803A>G (p.Lys268Arg)
c.2486A>G (p.Lys829Arg)
c.1175A>G (n.1175A>G)
c.2528A>G (p.Lys843Arg)
c.2588A>G (p.Lys863Arg)
c.812A>G (p.Lys271Arg)
c.1817A>G (p.Lys606Arg)
c.1271A>G (p.Lys424Arg)
2g.168944729T>GCA349126886ABCB11c.803A>C (p.Lys268Thr)
c.2486A>C (p.Lys829Thr)
c.1175A>C (n.1175A>C)
c.2528A>C (p.Lys843Thr)
c.2588A>C (p.Lys863Thr)
c.812A>C (p.Lys271Thr)
c.1817A>C (p.Lys606Thr)
c.1271A>C (p.Lys424Thr)
2g.168944730T>ACA349126898ABCB11c.802A>T (p.Lys268Ter)
c.2485A>T (p.Lys829Ter)
c.1174A>T (n.1174A>T)
c.2527A>T (p.Lys843Ter)
c.2587A>T (p.Lys863Ter)
c.811A>T (p.Lys271Ter)
c.1816A>T (p.Lys606Ter)
c.1270A>T (p.Lys424Ter)
2g.168944730T>CCA349126905ABCB11c.802A>G (p.Lys268Glu)
c.2485A>G (p.Lys829Glu)
c.1174A>G (n.1174A>G)
c.2527A>G (p.Lys843Glu)
c.2587A>G (p.Lys863Glu)
c.811A>G (p.Lys271Glu)
c.1816A>G (p.Lys606Glu)
c.1270A>G (p.Lys424Glu)
 dbSNP
2g.168944730T>GCA349126893ABCB11c.802A>C (p.Lys268Gln)
c.2485A>C (p.Lys829Gln)
c.1174A>C (n.1174A>C)
c.2527A>C (p.Lys843Gln)
c.2587A>C (p.Lys863Gln)
c.811A>C (p.Lys271Gln)
c.1816A>C (p.Lys606Gln)
c.1270A>C (p.Lys424Gln)
2g.168944730T=CA1306207207ABCB11c.802A= (p.Lys268=)
c.2485A= (p.Lys829=)
c.1174A= (n.1174A=)
c.2527A= (p.Lys843=)
c.2587A= (p.Lys863=)
c.811A= (p.Lys271=)
c.1816A= (p.Lys606=)
c.1270A= (p.Lys424=)
2g.168944731T>ACA429985331ABCB11c.801A>T (p.Thr267=)
c.2484A>T (p.Thr828=)
c.1173A>T (n.1173A>T)
c.2526A>T (p.Thr842=)
c.2586A>T (p.Thr862=)
c.810A>T (p.Thr270=)
c.1815A>T (p.Thr605=)
c.1269A>T (p.Thr423=)
2g.168944731T>CCA429985330ABCB11c.801A>G (p.Thr267=)
c.2484A>G (p.Thr828=)
c.1173A>G (n.1173A>G)
c.2526A>G (p.Thr842=)
c.2586A>G (p.Thr862=)
c.810A>G (p.Thr270=)
c.1815A>G (p.Thr605=)
c.1269A>G (p.Thr423=)
2g.168944731T>GCA429985329ABCB11c.801A>C (p.Thr267=)
c.2484A>C (p.Thr828=)
c.1173A>C (n.1173A>C)
c.2526A>C (p.Thr842=)
c.2586A>C (p.Thr862=)
c.810A>C (p.Thr270=)
c.1815A>C (p.Thr605=)
c.1269A>C (p.Thr423=)
2g.168944731_168944732delinsTGCA1306207209ABCB11c.800_801delinsCA (p.Thr267=)
c.2483_2484delinsCA (p.Thr828=)
c.1172_1173delinsCA (n.1172_1173delinsCA)
c.2525_2526delinsCA (p.Thr842=)
c.2585_2586delinsCA (p.Thr862=)
c.809_810delinsCA (p.Thr270=)
c.1814_1815delinsCA (p.Thr605=)
c.1268_1269delinsCA (p.Thr423=)
2g.168944732delCA1306207210ABCB11c.800del (p.Thr267LysfsTer30)
c.2483del (p.Thr828LysfsTer30)
c.1172del (n.1172del)
c.2525del (p.Thr842LysfsTer30)
c.2585del (p.Thr862LysfsTer30)
c.809del (p.Thr270LysfsTer30)
c.1814del (p.Thr605LysfsTer30)
c.1268del (p.Thr423LysfsTer30)
 dbSNP
2g.168944732G>ACA1951266ABCB11c.800C>T (p.Thr267Ile)
c.2483C>T (p.Thr828Ile)
c.1172C>T (n.1172C>T)
c.2525C>T (p.Thr842Ile)
c.2585C>T (p.Thr862Ile)
c.809C>T (p.Thr270Ile)
c.1814C>T (p.Thr605Ile)
c.1268C>T (p.Thr423Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.168944732G>CCA349126922ABCB11c.800C>G (p.Thr267Arg)
c.2483C>G (p.Thr828Arg)
c.1172C>G (n.1172C>G)
c.2525C>G (p.Thr842Arg)
c.2585C>G (p.Thr862Arg)
c.809C>G (p.Thr270Arg)
c.1814C>G (p.Thr605Arg)
c.1268C>G (p.Thr423Arg)
2g.168944732G=CA1306207211ABCB11c.800C= (p.Thr267=)
c.2483C= (p.Thr828=)
c.1172C= (n.1172C=)
c.2525C= (p.Thr842=)
c.2585C= (p.Thr862=)
c.809C= (p.Thr270=)
c.1814C= (p.Thr605=)
c.1268C= (p.Thr423=)
2g.168944732G>TCA349126924ABCB11c.800C>A (p.Thr267Lys)
c.2483C>A (p.Thr828Lys)
c.1172C>A (n.1172C>A)
c.2525C>A (p.Thr842Lys)
c.2585C>A (p.Thr862Lys)
c.809C>A (p.Thr270Lys)
c.1814C>A (p.Thr605Lys)
c.1268C>A (p.Thr423Lys)
2g.168944733T>ACA349126926ABCB11c.799A>T (p.Thr267Ser)
c.2482A>T (p.Thr828Ser)
c.1171A>T (n.1171A>T)
c.2524A>T (p.Thr842Ser)
c.2584A>T (p.Thr862Ser)
c.808A>T (p.Thr270Ser)
c.1813A>T (p.Thr605Ser)
c.1267A>T (p.Thr423Ser)
2g.168944733T>CCA349126927ABCB11c.799A>G (p.Thr267Ala)
c.2482A>G (p.Thr828Ala)
c.1171A>G (n.1171A>G)
c.2524A>G (p.Thr842Ala)
c.2584A>G (p.Thr862Ala)
c.808A>G (p.Thr270Ala)
c.1813A>G (p.Thr605Ala)
c.1267A>G (p.Thr423Ala)
2g.168944733T>GCA349126928ABCB11c.799A>C (p.Thr267Pro)
c.2482A>C (p.Thr828Pro)
c.1171A>C (n.1171A>C)
c.2524A>C (p.Thr842Pro)
c.2584A>C (p.Thr862Pro)
c.808A>C (p.Thr270Pro)
c.1813A>C (p.Thr605Pro)
c.1267A>C (p.Thr423Pro)
2g.168944734T>ACA429985338ABCB11c.798A>T (p.Leu266=)
c.2481A>T (p.Leu827=)
c.1170A>T (n.1170A>T)
c.2523A>T (p.Leu841=)
c.2583A>T (p.Leu861=)
c.807A>T (p.Leu269=)
c.1812A>T (p.Leu604=)
c.1266A>T (p.Leu422=)
2g.168944734T>CCA429985339ABCB11c.798A>G (p.Leu266=)
c.2481A>G (p.Leu827=)
c.1170A>G (n.1170A>G)
c.2523A>G (p.Leu841=)
c.2583A>G (p.Leu861=)
c.807A>G (p.Leu269=)
c.1812A>G (p.Leu604=)
c.1266A>G (p.Leu422=)
2g.168944734T>GCA429985340ABCB11c.798A>C (p.Leu266=)
c.2481A>C (p.Leu827=)
c.1170A>C (n.1170A>C)
c.2523A>C (p.Leu841=)
c.2583A>C (p.Leu861=)
c.807A>C (p.Leu269=)
c.1812A>C (p.Leu604=)
c.1266A>C (p.Leu422=)
2g.168944735A>CCA349126930ABCB11c.797T>G (p.Leu266Arg)
c.2480T>G (p.Leu827Arg)
c.1169T>G (n.1169T>G)
c.2522T>G (p.Leu841Arg)
c.2582T>G (p.Leu861Arg)
c.806T>G (p.Leu269Arg)
c.1811T>G (p.Leu604Arg)
c.1265T>G (p.Leu422Arg)
2g.168944735A>GCA349126934ABCB11c.797T>C (p.Leu266Pro)
c.2480T>C (p.Leu827Pro)
c.1169T>C (n.1169T>C)
c.2522T>C (p.Leu841Pro)
c.2582T>C (p.Leu861Pro)
c.806T>C (p.Leu269Pro)
c.1811T>C (p.Leu604Pro)
c.1265T>C (p.Leu422Pro)
2g.168944735A>TCA349126932ABCB11c.797T>A (p.Leu266Gln)
c.2480T>A (p.Leu827Gln)
c.1169T>A (n.1169T>A)
c.2522T>A (p.Leu841Gln)
c.2582T>A (p.Leu861Gln)
c.806T>A (p.Leu269Gln)
c.1811T>A (p.Leu604Gln)
c.1265T>A (p.Leu422Gln)
2g.168944736G>ACA1951267ABCB11c.796C>T (p.Leu266=)
c.2479C>T (p.Leu827=)
c.1168C>T (n.1168C>T)
c.2521C>T (p.Leu841=)
c.2581C>T (p.Leu861=)
c.805C>T (p.Leu269=)
c.1810C>T (p.Leu604=)
c.1264C>T (p.Leu422=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.168944736G>CCA349126944ABCB11c.796C>G (p.Leu266Val)
c.2479C>G (p.Leu827Val)
c.1168C>G (n.1168C>G)
c.2521C>G (p.Leu841Val)
c.2581C>G (p.Leu861Val)
c.805C>G (p.Leu269Val)
c.1810C>G (p.Leu604Val)
c.1264C>G (p.Leu422Val)
2g.168944736G=CA1306207213ABCB11c.796C= (p.Leu266=)
c.2479C= (p.Leu827=)
c.1168C= (n.1168C=)
c.2521C= (p.Leu841=)
c.2581C= (p.Leu861=)
c.805C= (p.Leu269=)
c.1810C= (p.Leu604=)
c.1264C= (p.Leu422=)
2g.168944736G>TCA349126945ABCB11c.796C>A (p.Leu266Ile)
c.2479C>A (p.Leu827Ile)
c.1168C>A (n.1168C>A)
c.2521C>A (p.Leu841Ile)
c.2581C>A (p.Leu861Ile)
c.805C>A (p.Leu269Ile)
c.1810C>A (p.Leu604Ile)
c.1264C>A (p.Leu422Ile)
2g.168944737delCA2661805095ABCB11c.796del (p.Leu266Ter)
c.2479del (p.Leu827Ter)
c.1168del (n.1168del)
c.2521del (p.Leu841Ter)
c.2581del (p.Leu861Ter)
c.805del (p.Leu269Ter)
c.1810del (p.Leu604Ter)
c.1264del (p.Leu422Ter)
 gnomAD v4
2g.168944737G>ACA429985344ABCB11c.795C>T (p.Leu265=)
c.2478C>T (p.Leu826=)
c.1167C>T (n.1167C>T)
c.2520C>T (p.Leu840=)
c.2580C>T (p.Leu860=)
c.804C>T (p.Leu268=)
c.1809C>T (p.Leu603=)
c.1263C>T (p.Leu421=)
 ClinVar dbSNP
2g.168944737G>CCA1951268ABCB11c.795C>G (p.Leu265=)
c.2478C>G (p.Leu826=)
c.1167C>G (n.1167C>G)
c.2520C>G (p.Leu840=)
c.2580C>G (p.Leu860=)
c.804C>G (p.Leu268=)
c.1809C>G (p.Leu603=)
c.1263C>G (p.Leu421=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.168944737G=CA1306207215ABCB11c.795C= (p.Leu265=)
c.2478C= (p.Leu826=)
c.1167C= (n.1167C=)
c.2520C= (p.Leu840=)
c.2580C= (p.Leu860=)
c.804C= (p.Leu268=)
c.1809C= (p.Leu603=)
c.1263C= (p.Leu421=)
2g.168944737G>TCA429985343ABCB11c.795C>A (p.Leu265=)
c.2478C>A (p.Leu826=)
c.1167C>A (n.1167C>A)
c.2520C>A (p.Leu840=)
c.2580C>A (p.Leu860=)
c.804C>A (p.Leu268=)
c.1809C>A (p.Leu603=)
c.1263C>A (p.Leu421=)
2g.168944738A=CA1306207217ABCB11c.794T= (p.Leu265=)
c.2477T= (p.Leu826=)
c.1166T= (n.1166T=)
c.2519T= (p.Leu840=)
c.2579T= (p.Leu860=)
c.803T= (p.Leu268=)
c.1808T= (p.Leu603=)
c.1262T= (p.Leu421=)
2g.168944738A>CCA349126958ABCB11c.794T>G (p.Leu265Arg)
c.2477T>G (p.Leu826Arg)
c.1166T>G (n.1166T>G)
c.2519T>G (p.Leu840Arg)
c.2579T>G (p.Leu860Arg)
c.803T>G (p.Leu268Arg)
c.1808T>G (p.Leu603Arg)
c.1262T>G (p.Leu421Arg)
2g.168944738A>GCA349126951ABCB11c.794T>C (p.Leu265Pro)
c.2477T>C (p.Leu826Pro)
c.1166T>C (n.1166T>C)
c.2519T>C (p.Leu840Pro)
c.2579T>C (p.Leu860Pro)
c.803T>C (p.Leu268Pro)
c.1808T>C (p.Leu603Pro)
c.1262T>C (p.Leu421Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168944738A>TCA349126948ABCB11c.794T>A (p.Leu265His)
c.2477T>A (p.Leu826His)
c.1166T>A (n.1166T>A)
c.2519T>A (p.Leu840His)
c.2579T>A (p.Leu860His)
c.803T>A (p.Leu268His)
c.1808T>A (p.Leu603His)
c.1262T>A (p.Leu421His)
2g.168944739G>ACA1951269ABCB11c.793C>T (p.Leu265Phe)
c.2476C>T (p.Leu826Phe)
c.1165C>T (n.1165C>T)
c.2518C>T (p.Leu840Phe)
c.2578C>T (p.Leu860Phe)
c.802C>T (p.Leu268Phe)
c.1807C>T (p.Leu603Phe)
c.1261C>T (p.Leu421Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168944739G>CCA349126972ABCB11c.793C>G (p.Leu265Val)
c.2476C>G (p.Leu826Val)
c.1165C>G (n.1165C>G)
c.2518C>G (p.Leu840Val)
c.2578C>G (p.Leu860Val)
c.802C>G (p.Leu268Val)
c.1807C>G (p.Leu603Val)
c.1261C>G (p.Leu421Val)
 dbSNP gnomAD v4
2g.168944739G=CA1306207218ABCB11c.793C= (p.Leu265=)
c.2476C= (p.Leu826=)
c.1165C= (n.1165C=)
c.2518C= (p.Leu840=)
c.2578C= (p.Leu860=)
c.802C= (p.Leu268=)
c.1807C= (p.Leu603=)
c.1261C= (p.Leu421=)
2g.168944739G>TCA349126961ABCB11c.793C>A (p.Leu265Ile)
c.2476C>A (p.Leu826Ile)
c.1165C>A (n.1165C>A)
c.2518C>A (p.Leu840Ile)
c.2578C>A (p.Leu860Ile)
c.802C>A (p.Leu268Ile)
c.1807C>A (p.Leu603Ile)
c.1261C>A (p.Leu421Ile)
2g.168944740C>ACA349126975ABCB11c.792G>T (p.Glu264Asp)
c.2475G>T (p.Glu825Asp)
c.1164G>T (n.1164G>T)
c.2517G>T (p.Glu839Asp)
c.2577G>T (p.Glu859Asp)
c.801G>T (p.Glu267Asp)
c.1806G>T (p.Glu602Asp)
c.1260G>T (p.Glu420Asp)
2g.168944740C>GCA349126976ABCB11c.792G>C (p.Glu264Asp)
c.2475G>C (p.Glu825Asp)
c.1164G>C (n.1164G>C)
c.2517G>C (p.Glu839Asp)
c.2577G>C (p.Glu859Asp)
c.801G>C (p.Glu267Asp)
c.1806G>C (p.Glu602Asp)
c.1260G>C (p.Glu420Asp)
2g.168944740C>TCA429985348ABCB11c.792G>A (p.Glu264=)
c.2475G>A (p.Glu825=)
c.1164G>A (n.1164G>A)
c.2517G>A (p.Glu839=)
c.2577G>A (p.Glu859=)
c.801G>A (p.Glu267=)
c.1806G>A (p.Glu602=)
c.1260G>A (p.Glu420=)
 ClinVar dbSNP
2g.168944741T>ACA349126978ABCB11c.791A>T (p.Glu264Val)
c.2474A>T (p.Glu825Val)
c.1163A>T (n.1163A>T)
c.2516A>T (p.Glu839Val)
c.2576A>T (p.Glu859Val)
c.800A>T (p.Glu267Val)
c.1805A>T (p.Glu602Val)
c.1259A>T (p.Glu420Val)
2g.168944741T>CCA349126980ABCB11c.791A>G (p.Glu264Gly)
c.2474A>G (p.Glu825Gly)
c.1163A>G (n.1163A>G)
c.2516A>G (p.Glu839Gly)
c.2576A>G (p.Glu859Gly)
c.800A>G (p.Glu267Gly)
c.1805A>G (p.Glu602Gly)
c.1259A>G (p.Glu420Gly)
2g.168944741T>GCA349126981ABCB11c.791A>C (p.Glu264Ala)
c.2474A>C (p.Glu825Ala)
c.1163A>C (n.1163A>C)
c.2516A>C (p.Glu839Ala)
c.2576A>C (p.Glu859Ala)
c.800A>C (p.Glu267Ala)
c.1805A>C (p.Glu602Ala)
c.1259A>C (p.Glu420Ala)
 dbSNP
2g.168944741T=CA1306207220ABCB11c.791A= (p.Glu264=)
c.2474A= (p.Glu825=)
c.1163A= (n.1163A=)
c.2516A= (p.Glu839=)
c.2576A= (p.Glu859=)
c.800A= (p.Glu267=)
c.1805A= (p.Glu602=)
c.1259A= (p.Glu420=)
2g.168944742C>ACA349126984ABCB11c.790G>T (p.Glu264Ter)
c.2473G>T (p.Glu825Ter)
c.1162G>T (n.1162G>T)
c.2515G>T (p.Glu839Ter)
c.2575G>T (p.Glu859Ter)
c.799G>T (p.Glu267Ter)
c.1804G>T (p.Glu602Ter)
c.1258G>T (p.Glu420Ter)
2g.168944742C>GCA349126991ABCB11c.790G>C (p.Glu264Gln)
c.2473G>C (p.Glu825Gln)
c.1162G>C (n.1162G>C)
c.2515G>C (p.Glu839Gln)
c.2575G>C (p.Glu859Gln)
c.799G>C (p.Glu267Gln)
c.1804G>C (p.Glu602Gln)
c.1258G>C (p.Glu420Gln)
2g.168944742C>TCA349126998ABCB11c.790G>A (p.Glu264Lys)
c.2473G>A (p.Glu825Lys)
c.1162G>A (n.1162G>A)
c.2515G>A (p.Glu839Lys)
c.2575G>A (p.Glu859Lys)
c.799G>A (p.Glu267Lys)
c.1804G>A (p.Glu602Lys)
c.1258G>A (p.Glu420Lys)
2g.168944743C>ACA429985355ABCB11c.789G>T (p.Gly263=)
c.2472G>T (p.Gly824=)
c.1161G>T (n.1161G>T)
c.2514G>T (p.Gly838=)
c.2574G>T (p.Gly858=)
c.798G>T (p.Gly266=)
c.1803G>T (p.Gly601=)
c.1257G>T (p.Gly419=)
2g.168944743C=CA1306207221ABCB11c.789G= (p.Gly263=)
c.2472G= (p.Gly824=)
c.1161G= (n.1161G=)
c.2514G= (p.Gly838=)
c.2574G= (p.Gly858=)
c.798G= (p.Gly266=)
c.1803G= (p.Gly601=)
c.1257G= (p.Gly419=)
2g.168944743C>GCA429985353ABCB11c.789G>C (p.Gly263=)
c.2472G>C (p.Gly824=)
c.1161G>C (n.1161G>C)
c.2514G>C (p.Gly838=)
c.2574G>C (p.Gly858=)
c.798G>C (p.Gly266=)
c.1803G>C (p.Gly601=)
c.1257G>C (p.Gly419=)
2g.168944743C>TCA1951270ABCB11c.789G>A (p.Gly263=)
c.2472G>A (p.Gly824=)
c.1161G>A (n.1161G>A)
c.2514G>A (p.Gly838=)
c.2574G>A (p.Gly858=)
c.798G>A (p.Gly266=)
c.1803G>A (p.Gly601=)
c.1257G>A (p.Gly419=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168944744C>ACA349127004ABCB11c.788G>T (p.Gly263Val)
c.2471G>T (p.Gly824Val)
c.1160G>T (n.1160G>T)
c.2513G>T (p.Gly838Val)
c.2573G>T (p.Gly858Val)
c.797G>T (p.Gly266Val)
c.1802G>T (p.Gly601Val)
c.1256G>T (p.Gly419Val)
2g.168944744C=CA1306207223ABCB11c.788G= (p.Gly263=)
c.2471G= (p.Gly824=)
c.1160G= (n.1160G=)
c.2513G= (p.Gly838=)
c.2573G= (p.Gly858=)
c.797G= (p.Gly266=)
c.1802G= (p.Gly601=)
c.1256G= (p.Gly419=)
2g.168944744C>GCA349127008ABCB11c.788G>C (p.Gly263Ala)
c.2471G>C (p.Gly824Ala)
c.1160G>C (n.1160G>C)
c.2513G>C (p.Gly838Ala)
c.2573G>C (p.Gly858Ala)
c.797G>C (p.Gly266Ala)
c.1802G>C (p.Gly601Ala)
c.1256G>C (p.Gly419Ala)
2g.168944744C>TCA349127011ABCB11c.788G>A (p.Gly263Glu)
c.2471G>A (p.Gly824Glu)
c.1160G>A (n.1160G>A)
c.2513G>A (p.Gly838Glu)
c.2573G>A (p.Gly858Glu)
c.797G>A (p.Gly266Glu)
c.1802G>A (p.Gly601Glu)
c.1256G>A (p.Gly419Glu)
 ClinVar dbSNP
2g.168944745C>ACA349127037ABCB11c.787G>T (p.Gly263Trp)
c.2470G>T (p.Gly824Trp)
c.1159G>T (n.1159G>T)
c.2512G>T (p.Gly838Trp)
c.2572G>T (p.Gly858Trp)
c.796G>T (p.Gly266Trp)
c.1801G>T (p.Gly601Trp)
c.1255G>T (p.Gly419Trp)
2g.168944745C>GCA349127019ABCB11c.787G>C (p.Gly263Arg)
c.2470G>C (p.Gly824Arg)
c.1159G>C (n.1159G>C)
c.2512G>C (p.Gly838Arg)
c.2572G>C (p.Gly858Arg)
c.796G>C (p.Gly266Arg)
c.1801G>C (p.Gly601Arg)
c.1255G>C (p.Gly419Arg)
2g.168944745C>TCA349127020ABCB11c.787G>A (p.Gly263Arg)
c.2470G>A (p.Gly824Arg)
c.1159G>A (n.1159G>A)
c.2512G>A (p.Gly838Arg)
c.2572G>A (p.Gly858Arg)
c.796G>A (p.Gly266Arg)
c.1801G>A (p.Gly601Arg)
c.1255G>A (p.Gly419Arg)
 gnomAD v4
2g.168944746A>CCA429985362ABCB11c.786T>G (p.Ser262=)
c.2469T>G (p.Ser823=)
c.1158T>G (n.1158T>G)
c.2511T>G (p.Ser837=)
c.2571T>G (p.Ser857=)
c.795T>G (p.Ser265=)
c.1800T>G (p.Ser600=)
c.1254T>G (p.Ser418=)
2g.168944746A>GCA429985363ABCB11c.786T>C (p.Ser262=)
c.2469T>C (p.Ser823=)
c.1158T>C (n.1158T>C)
c.2511T>C (p.Ser837=)
c.2571T>C (p.Ser857=)
c.795T>C (p.Ser265=)
c.1800T>C (p.Ser600=)
c.1254T>C (p.Ser418=)
 dbSNP
2g.168944746A>TCA429985364ABCB11c.786T>A (p.Ser262=)
c.2469T>A (p.Ser823=)
c.1158T>A (n.1158T>A)
c.2511T>A (p.Ser837=)
c.2571T>A (p.Ser857=)
c.795T>A (p.Ser265=)
c.1800T>A (p.Ser600=)
c.1254T>A (p.Ser418=)
2g.168944747G>ACA349127047ABCB11c.785C>T (p.Ser262Phe)
c.2468C>T (p.Ser823Phe)
c.1157C>T (n.1157C>T)
c.2510C>T (p.Ser837Phe)
c.2570C>T (p.Ser857Phe)
c.794C>T (p.Ser265Phe)
c.1799C>T (p.Ser600Phe)
c.1253C>T (p.Ser418Phe)
2g.168944747G>CCA349127053ABCB11c.785C>G (p.Ser262Cys)
c.2468C>G (p.Ser823Cys)
c.1157C>G (n.1157C>G)
c.2510C>G (p.Ser837Cys)
c.2570C>G (p.Ser857Cys)
c.794C>G (p.Ser265Cys)
c.1799C>G (p.Ser600Cys)
c.1253C>G (p.Ser418Cys)
2g.168944747G>TCA349127065ABCB11c.785C>A (p.Ser262Tyr)
c.2468C>A (p.Ser823Tyr)
c.1157C>A (n.1157C>A)
c.2510C>A (p.Ser837Tyr)
c.2570C>A (p.Ser857Tyr)
c.794C>A (p.Ser265Tyr)
c.1799C>A (p.Ser600Tyr)
c.1253C>A (p.Ser418Tyr)
2g.168944748A>CCA349127066ABCB11c.784T>G (p.Ser262Ala)
c.2467T>G (p.Ser823Ala)
c.1156T>G (n.1156T>G)
c.2509T>G (p.Ser837Ala)
c.2569T>G (p.Ser857Ala)
c.793T>G (p.Ser265Ala)
c.1798T>G (p.Ser600Ala)
c.1252T>G (p.Ser418Ala)
2g.168944748A>GCA349127067ABCB11c.784T>C (p.Ser262Pro)
c.2467T>C (p.Ser823Pro)
c.1156T>C (n.1156T>C)
c.2509T>C (p.Ser837Pro)
c.2569T>C (p.Ser857Pro)
c.793T>C (p.Ser265Pro)
c.1798T>C (p.Ser600Pro)
c.1252T>C (p.Ser418Pro)
2g.168944748A>TCA349127068ABCB11c.784T>A (p.Ser262Thr)
c.2467T>A (p.Ser823Thr)
c.1156T>A (n.1156T>A)
c.2509T>A (p.Ser837Thr)
c.2569T>A (p.Ser857Thr)
c.793T>A (p.Ser265Thr)
c.1798T>A (p.Ser600Thr)
c.1252T>A (p.Ser418Thr)
2g.168944749T>ACA349127075ABCB11c.783A>T (p.Lys261Asn)
c.2466A>T (p.Lys822Asn)
c.1155A>T (n.1155A>T)
c.2508A>T (p.Lys836Asn)
c.2568A>T (p.Lys856Asn)
c.792A>T (p.Lys264Asn)
c.1797A>T (p.Lys599Asn)
c.1251A>T (p.Lys417Asn)
2g.168944749T>CCA429985368ABCB11c.783A>G (p.Lys261=)
c.2466A>G (p.Lys822=)
c.1155A>G (n.1155A>G)
c.2508A>G (p.Lys836=)
c.2568A>G (p.Lys856=)
c.792A>G (p.Lys264=)
c.1797A>G (p.Lys599=)
c.1251A>G (p.Lys417=)
 gnomAD v4
2g.168944749T>GCA349127084ABCB11c.783A>C (p.Lys261Asn)
c.2466A>C (p.Lys822Asn)
c.1155A>C (n.1155A>C)
c.2508A>C (p.Lys836Asn)
c.2568A>C (p.Lys856Asn)
c.792A>C (p.Lys264Asn)
c.1797A>C (p.Lys599Asn)
c.1251A>C (p.Lys417Asn)
2g.168944750T>ACA349127093ABCB11c.782A>T (p.Lys261Ile)
c.2465A>T (p.Lys822Ile)
c.1154A>T (n.1154A>T)
c.2507A>T (p.Lys836Ile)
c.2567A>T (p.Lys856Ile)
c.791A>T (p.Lys264Ile)
c.1796A>T (p.Lys599Ile)
c.1250A>T (p.Lys417Ile)
2g.168944750T>CCA349127094ABCB11c.782A>G (p.Lys261Arg)
c.2465A>G (p.Lys822Arg)
c.1154A>G (n.1154A>G)
c.2507A>G (p.Lys836Arg)
c.2567A>G (p.Lys856Arg)
c.791A>G (p.Lys264Arg)
c.1796A>G (p.Lys599Arg)
c.1250A>G (p.Lys417Arg)
2g.168944750T>GCA349127095ABCB11c.782A>C (p.Lys261Thr)
c.2465A>C (p.Lys822Thr)
c.1154A>C (n.1154A>C)
c.2507A>C (p.Lys836Thr)
c.2567A>C (p.Lys856Thr)
c.791A>C (p.Lys264Thr)
c.1796A>C (p.Lys599Thr)
c.1250A>C (p.Lys417Thr)
2g.168944751T>ACA349127120ABCB11c.781A>T (p.Lys261Ter)
c.2464A>T (p.Lys822Ter)
c.1153A>T (n.1153A>T)
c.2506A>T (p.Lys836Ter)
c.2566A>T (p.Lys856Ter)
c.790A>T (p.Lys264Ter)
c.1795A>T (p.Lys599Ter)
c.1249A>T (p.Lys417Ter)
2g.168944751T>CCA349127105ABCB11c.781A>G (p.Lys261Glu)
c.2464A>G (p.Lys822Glu)
c.1153A>G (n.1153A>G)
c.2506A>G (p.Lys836Glu)
c.2566A>G (p.Lys856Glu)
c.790A>G (p.Lys264Glu)
c.1795A>G (p.Lys599Glu)
c.1249A>G (p.Lys417Glu)
2g.168944751T>GCA349127101ABCB11c.781A>C (p.Lys261Gln)
c.2464A>C (p.Lys822Gln)
c.1153A>C (n.1153A>C)
c.2506A>C (p.Lys836Gln)
c.2566A>C (p.Lys856Gln)
c.790A>C (p.Lys264Gln)
c.1795A>C (p.Lys599Gln)
c.1249A>C (p.Lys417Gln)
2g.168944752A>CCA429985375ABCB11c.780T>G (p.Ala260=)
c.2463T>G (p.Ala821=)
c.1152T>G (n.1152T>G)
c.2505T>G (p.Ala835=)
c.2565T>G (p.Ala855=)
c.789T>G (p.Ala263=)
c.1794T>G (p.Ala598=)
c.1248T>G (p.Ala416=)
2g.168944752A>GCA429985377ABCB11c.780T>C (p.Ala260=)
c.2463T>C (p.Ala821=)
c.1152T>C (n.1152T>C)
c.2505T>C (p.Ala835=)
c.2565T>C (p.Ala855=)
c.789T>C (p.Ala263=)
c.1794T>C (p.Ala598=)
c.1248T>C (p.Ala416=)
2g.168944752A>TCA429985378ABCB11c.780T>A (p.Ala260=)
c.2463T>A (p.Ala821=)
c.1152T>A (n.1152T>A)
c.2505T>A (p.Ala835=)
c.2565T>A (p.Ala855=)
c.789T>A (p.Ala263=)
c.1794T>A (p.Ala598=)
c.1248T>A (p.Ala416=)
2g.168944753G>ACA349127121ABCB11c.779C>T (p.Ala260Val)
c.2462C>T (p.Ala821Val)
c.1151C>T (n.1151C>T)
c.2504C>T (p.Ala835Val)
c.2564C>T (p.Ala855Val)
c.788C>T (p.Ala263Val)
c.1793C>T (p.Ala598Val)
c.1247C>T (p.Ala416Val)
2g.168944753G>CCA349127122ABCB11c.779C>G (p.Ala260Gly)
c.2462C>G (p.Ala821Gly)
c.1151C>G (n.1151C>G)
c.2504C>G (p.Ala835Gly)
c.2564C>G (p.Ala855Gly)
c.788C>G (p.Ala263Gly)
c.1793C>G (p.Ala598Gly)
c.1247C>G (p.Ala416Gly)
2g.168944753G>TCA349127123ABCB11c.779C>A (p.Ala260Asp)
c.2462C>A (p.Ala821Asp)
c.1151C>A (n.1151C>A)
c.2504C>A (p.Ala835Asp)
c.2564C>A (p.Ala855Asp)
c.788C>A (p.Ala263Asp)
c.1793C>A (p.Ala598Asp)
c.1247C>A (p.Ala416Asp)
2g.168944754C>ACA349127124ABCB11c.778G>T (p.Ala260Ser)
c.2461G>T (p.Ala821Ser)
c.1150G>T (n.1150G>T)
c.2503G>T (p.Ala835Ser)
c.2563G>T (p.Ala855Ser)
c.787G>T (p.Ala263Ser)
c.1792G>T (p.Ala598Ser)
c.1246G>T (p.Ala416Ser)
2g.168944754C=CA1306207225ABCB11c.778G= (p.Ala260=)
c.2461G= (p.Ala821=)
c.1150G= (n.1150G=)
c.2503G= (p.Ala835=)
c.2563G= (p.Ala855=)
c.787G= (p.Ala263=)
c.1792G= (p.Ala598=)
c.1246G= (p.Ala416=)
2g.168944754C>GCA349127125ABCB11c.778G>C (p.Ala260Pro)
c.2461G>C (p.Ala821Pro)
c.1150G>C (n.1150G>C)
c.2503G>C (p.Ala835Pro)
c.2563G>C (p.Ala855Pro)
c.787G>C (p.Ala263Pro)
c.1792G>C (p.Ala598Pro)
c.1246G>C (p.Ala416Pro)
 gnomAD v4
2g.168944754C>TCA349127126ABCB11c.778G>A (p.Ala260Thr)
c.2461G>A (p.Ala821Thr)
c.1150G>A (n.1150G>A)
c.2503G>A (p.Ala835Thr)
c.2563G>A (p.Ala855Thr)
c.787G>A (p.Ala263Thr)
c.1792G>A (p.Ala598Thr)
c.1246G>A (p.Ala416Thr)
 dbSNP gnomAD v2
2g.168944755A=CA1306207226ABCB11c.777T= (p.Phe259=)
c.2460T= (p.Phe820=)
c.1149T= (n.1149T=)
c.2502T= (p.Phe834=)
c.2562T= (p.Phe854=)
c.786T= (p.Phe262=)
c.1791T= (p.Phe597=)
c.1245T= (p.Phe415=)
2g.168944755A>CCA349127132ABCB11c.777T>G (p.Phe259Leu)
c.2460T>G (p.Phe820Leu)
c.1149T>G (n.1149T>G)
c.2502T>G (p.Phe834Leu)
c.2562T>G (p.Phe854Leu)
c.786T>G (p.Phe262Leu)
c.1791T>G (p.Phe597Leu)
c.1245T>G (p.Phe415Leu)
 gnomAD v4
2g.168944755A>GCA429985382ABCB11c.777T>C (p.Phe259=)
c.2460T>C (p.Phe820=)
c.1149T>C (n.1149T>C)
c.2502T>C (p.Phe834=)
c.2562T>C (p.Phe854=)
c.786T>C (p.Phe262=)
c.1791T>C (p.Phe597=)
c.1245T>C (p.Phe415=)
 dbSNP
2g.168944755A>TCA349127129ABCB11c.777T>A (p.Phe259Leu)
c.2460T>A (p.Phe820Leu)
c.1149T>A (n.1149T>A)
c.2502T>A (p.Phe834Leu)
c.2562T>A (p.Phe854Leu)
c.786T>A (p.Phe262Leu)
c.1791T>A (p.Phe597Leu)
c.1245T>A (p.Phe415Leu)
 gnomAD v4
2g.168944756A>CCA349127138ABCB11c.776T>G (p.Phe259Cys)
c.2459T>G (p.Phe820Cys)
c.1148T>G (n.1148T>G)
c.2501T>G (p.Phe834Cys)
c.2561T>G (p.Phe854Cys)
c.785T>G (p.Phe262Cys)
c.1790T>G (p.Phe597Cys)
c.1244T>G (p.Phe415Cys)
2g.168944756A>GCA349127139ABCB11c.776T>C (p.Phe259Ser)
c.2459T>C (p.Phe820Ser)
c.1148T>C (n.1148T>C)
c.2501T>C (p.Phe834Ser)
c.2561T>C (p.Phe854Ser)
c.785T>C (p.Phe262Ser)
c.1790T>C (p.Phe597Ser)
c.1244T>C (p.Phe415Ser)
2g.168944756A>TCA349127141ABCB11c.776T>A (p.Phe259Tyr)
c.2459T>A (p.Phe820Tyr)
c.1148T>A (n.1148T>A)
c.2501T>A (p.Phe834Tyr)
c.2561T>A (p.Phe854Tyr)
c.785T>A (p.Phe262Tyr)
c.1790T>A (p.Phe597Tyr)
c.1244T>A (p.Phe415Tyr)
2g.168944757A=CA1306207227ABCB11c.775T= (p.Phe259=)
c.2458T= (p.Phe820=)
c.1147T= (n.1147T=)
c.2500T= (p.Phe834=)
c.2560T= (p.Phe854=)
c.784T= (p.Phe262=)
c.1789T= (p.Phe597=)
c.1243T= (p.Phe415=)
2g.168944757A>CCA349127143ABCB11c.775T>G (p.Phe259Val)
c.2458T>G (p.Phe820Val)
c.1147T>G (n.1147T>G)
c.2500T>G (p.Phe834Val)
c.2560T>G (p.Phe854Val)
c.784T>G (p.Phe262Val)
c.1789T>G (p.Phe597Val)
c.1243T>G (p.Phe415Val)
2g.168944757A>GCA59880883ABCB11c.775T>C (p.Phe259Leu)
c.2458T>C (p.Phe820Leu)
c.1147T>C (n.1147T>C)
c.2500T>C (p.Phe834Leu)
c.2560T>C (p.Phe854Leu)
c.784T>C (p.Phe262Leu)
c.1789T>C (p.Phe597Leu)
c.1243T>C (p.Phe415Leu)
 ClinVar dbSNP
2g.168944757A>TCA349127146ABCB11c.775T>A (p.Phe259Ile)
c.2458T>A (p.Phe820Ile)
c.1147T>A (n.1147T>A)
c.2500T>A (p.Phe834Ile)
c.2560T>A (p.Phe854Ile)
c.784T>A (p.Phe262Ile)
c.1789T>A (p.Phe597Ile)
c.1243T>A (p.Phe415Ile)
2g.168944758G>ACA429985386ABCB11c.774C>T (p.Ala258=)
c.2457C>T (p.Ala819=)
c.1146C>T (n.1146C>T)
c.2499C>T (p.Ala833=)
c.2559C>T (p.Ala853=)
c.783C>T (p.Ala261=)
c.1788C>T (p.Ala596=)
c.1242C>T (p.Ala414=)
 gnomAD v4
2g.168944758G>CCA429985387ABCB11c.774C>G (p.Ala258=)
c.2457C>G (p.Ala819=)
c.1146C>G (n.1146C>G)
c.2499C>G (p.Ala833=)
c.2559C>G (p.Ala853=)
c.783C>G (p.Ala261=)
c.1788C>G (p.Ala596=)
c.1242C>G (p.Ala414=)
 gnomAD v3 gnomAD v4
2g.168944758G=CA1306207228ABCB11c.774C= (p.Ala258=)
c.2457C= (p.Ala819=)
c.1146C= (n.1146C=)
c.2499C= (p.Ala833=)
c.2559C= (p.Ala853=)
c.783C= (p.Ala261=)
c.1788C= (p.Ala596=)
c.1242C= (p.Ala414=)
2g.168944758G>TCA429985390ABCB11c.774C>A (p.Ala258=)
c.2457C>A (p.Ala819=)
c.1146C>A (n.1146C>A)
c.2499C>A (p.Ala833=)
c.2559C>A (p.Ala853=)
c.783C>A (p.Ala261=)
c.1788C>A (p.Ala596=)
c.1242C>A (p.Ala414=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168944759G>ACA1951271ABCB11c.773C>T (p.Ala258Val)
c.2456C>T (p.Ala819Val)
c.1145C>T (n.1145C>T)
c.2498C>T (p.Ala833Val)
c.2558C>T (p.Ala853Val)
c.782C>T (p.Ala261Val)
c.1787C>T (p.Ala596Val)
c.1241C>T (p.Ala414Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.168944759G>CCA349127151ABCB11c.773C>G (p.Ala258Gly)
c.2456C>G (p.Ala819Gly)
c.1145C>G (n.1145C>G)
c.2498C>G (p.Ala833Gly)
c.2558C>G (p.Ala853Gly)
c.782C>G (p.Ala261Gly)
c.1787C>G (p.Ala596Gly)
c.1241C>G (p.Ala414Gly)
2g.168944759G=CA1306207231ABCB11c.773C= (p.Ala258=)
c.2456C= (p.Ala819=)
c.1145C= (n.1145C=)
c.2498C= (p.Ala833=)
c.2558C= (p.Ala853=)
c.782C= (p.Ala261=)
c.1787C= (p.Ala596=)
c.1241C= (p.Ala414=)
2g.168944759G>TCA349127150ABCB11c.773C>A (p.Ala258Asp)
c.2456C>A (p.Ala819Asp)
c.1145C>A (n.1145C>A)
c.2498C>A (p.Ala833Asp)
c.2558C>A (p.Ala853Asp)
c.782C>A (p.Ala261Asp)
c.1787C>A (p.Ala596Asp)
c.1241C>A (p.Ala414Asp)
 gnomAD v4
2g.168944760C>ACA349127152ABCB11c.772G>T (p.Ala258Ser)
c.2455G>T (p.Ala819Ser)
c.1144G>T (n.1144G>T)
c.2497G>T (p.Ala833Ser)
c.2557G>T (p.Ala853Ser)
c.781G>T (p.Ala261Ser)
c.1786G>T (p.Ala596Ser)
c.1240G>T (p.Ala414Ser)
2g.168944760C=CA1306207233ABCB11c.772G= (p.Ala258=)
c.2455G= (p.Ala819=)
c.1144G= (n.1144G=)
c.2497G= (p.Ala833=)
c.2557G= (p.Ala853=)
c.781G= (p.Ala261=)
c.1786G= (p.Ala596=)
c.1240G= (p.Ala414=)
2g.168944760C>GCA1951272ABCB11c.772G>C (p.Ala258Pro)
c.2455G>C (p.Ala819Pro)
c.1144G>C (n.1144G>C)
c.2497G>C (p.Ala833Pro)
c.2557G>C (p.Ala853Pro)
c.781G>C (p.Ala261Pro)
c.1786G>C (p.Ala596Pro)
c.1240G>C (p.Ala414Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.168944760C>TCA349127157ABCB11c.772G>A (p.Ala258Thr)
c.2455G>A (p.Ala819Thr)
c.1144G>A (n.1144G>A)
c.2497G>A (p.Ala833Thr)
c.2557G>A (p.Ala853Thr)
c.781G>A (p.Ala261Thr)
c.1786G>A (p.Ala596Thr)
c.1240G>A (p.Ala414Thr)
 gnomAD v4
2g.168944761A=CA1306207234ABCB11c.771T= (p.Tyr257=)
c.2454T= (p.Tyr818=)
c.1143T= (n.1143T=)
c.2496T= (p.Tyr832=)
c.2556T= (p.Tyr852=)
c.780T= (p.Tyr260=)
c.1785T= (p.Tyr595=)
c.1239T= (p.Tyr413=)
2g.168944761A>CCA349127159ABCB11c.771T>G (p.Tyr257Ter)
c.2454T>G (p.Tyr818Ter)
c.1143T>G (n.1143T>G)
c.2496T>G (p.Tyr832Ter)
c.2556T>G (p.Tyr852Ter)
c.780T>G (p.Tyr260Ter)
c.1785T>G (p.Tyr595Ter)
c.1239T>G (p.Tyr413Ter)
2g.168944761A>GCA429985395ABCB11c.771T>C (p.Tyr257=)
c.2454T>C (p.Tyr818=)
c.1143T>C (n.1143T>C)
c.2496T>C (p.Tyr832=)
c.2556T>C (p.Tyr852=)
c.780T>C (p.Tyr260=)
c.1785T>C (p.Tyr595=)
c.1239T>C (p.Tyr413=)
 ClinVar dbSNP gnomAD v4
2g.168944761A>TCA349127160ABCB11c.771T>A (p.Tyr257Ter)
c.2454T>A (p.Tyr818Ter)
c.1143T>A (n.1143T>A)
c.2496T>A (p.Tyr832Ter)
c.2556T>A (p.Tyr852Ter)
c.780T>A (p.Tyr260Ter)
c.1785T>A (p.Tyr595Ter)
c.1239T>A (p.Tyr413Ter)
2g.168944762T>ACA1951273ABCB11c.770A>T (p.Tyr257Phe)
c.2453A>T (p.Tyr818Phe)
c.1142A>T (n.1142A>T)
c.2495A>T (p.Tyr832Phe)
c.2555A>T (p.Tyr852Phe)
c.779A>T (p.Tyr260Phe)
c.1784A>T (p.Tyr595Phe)
c.1238A>T (p.Tyr413Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168944762T>CCA349127161ABCB11c.770A>G (p.Tyr257Cys)
c.2453A>G (p.Tyr818Cys)
c.1142A>G (n.1142A>G)
c.2495A>G (p.Tyr832Cys)
c.2555A>G (p.Tyr852Cys)
c.779A>G (p.Tyr260Cys)
c.1784A>G (p.Tyr595Cys)
c.1238A>G (p.Tyr413Cys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.168944762T>GCA349127162ABCB11c.770A>C (p.Tyr257Ser)
c.2453A>C (p.Tyr818Ser)
c.1142A>C (n.1142A>C)
c.2495A>C (p.Tyr832Ser)
c.2555A>C (p.Tyr852Ser)
c.779A>C (p.Tyr260Ser)
c.1784A>C (p.Tyr595Ser)
c.1238A>C (p.Tyr413Ser)
2g.168944762T=CA1306207236ABCB11c.770A= (p.Tyr257=)
c.2453A= (p.Tyr818=)
c.1142A= (n.1142A=)
c.2495A= (p.Tyr832=)
c.2555A= (p.Tyr852=)
c.779A= (p.Tyr260=)
c.1784A= (p.Tyr595=)
c.1238A= (p.Tyr413=)
2g.168944763A>CCA349127163ABCB11c.769T>G (p.Tyr257Asp)
c.2452T>G (p.Tyr818Asp)
c.1141T>G (n.1141T>G)
c.2494T>G (p.Tyr832Asp)
c.2554T>G (p.Tyr852Asp)
c.778T>G (p.Tyr260Asp)
c.1783T>G (p.Tyr595Asp)
c.1237T>G (p.Tyr413Asp)
2g.168944763A>GCA349127164ABCB11c.769T>C (p.Tyr257His)
c.2452T>C (p.Tyr818His)
c.1141T>C (n.1141T>C)
c.2494T>C (p.Tyr832His)
c.2554T>C (p.Tyr852His)
c.778T>C (p.Tyr260His)
c.1783T>C (p.Tyr595His)
c.1237T>C (p.Tyr413His)
2g.168944763A>TCA349127165ABCB11c.769T>A (p.Tyr257Asn)
c.2452T>A (p.Tyr818Asn)
c.1141T>A (n.1141T>A)
c.2494T>A (p.Tyr832Asn)
c.2554T>A (p.Tyr852Asn)
c.778T>A (p.Tyr260Asn)
c.1783T>A (p.Tyr595Asn)
c.1237T>A (p.Tyr413Asn)
2g.168944764delCA2573133645ABCB11c.768del (p.Tyr257MetfsTer10)
c.2451del (p.Tyr818MetfsTer10)
c.1140del (n.1140del)
c.2493del (p.Tyr832MetfsTer10)
c.2553del (p.Tyr852MetfsTer10)
c.777del (p.Tyr260MetfsTer10)
c.1782del (p.Tyr595MetfsTer10)
c.1236del (p.Tyr413MetfsTer10)
 ClinVar dbSNP
2g.168944764T>ACA429985399ABCB11c.768A>T (p.Gly256=)
c.2451A>T (p.Gly817=)
c.1140A>T (n.1140A>T)
c.2493A>T (p.Gly831=)
c.2553A>T (p.Gly851=)
c.777A>T (p.Gly259=)
c.1782A>T (p.Gly594=)
c.1236A>T (p.Gly412=)
 ClinVar
2g.168944764T>CCA429985404ABCB11c.768A>G (p.Gly256=)
c.2451A>G (p.Gly817=)
c.1140A>G (n.1140A>G)
c.2493A>G (p.Gly831=)
c.2553A>G (p.Gly851=)
c.777A>G (p.Gly259=)
c.1782A>G (p.Gly594=)
c.1236A>G (p.Gly412=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.168944764T>GCA429985402ABCB11c.768A>C (p.Gly256=)
c.2451A>C (p.Gly817=)
c.1140A>C (n.1140A>C)
c.2493A>C (p.Gly831=)
c.2553A>C (p.Gly851=)
c.777A>C (p.Gly259=)
c.1782A>C (p.Gly594=)
c.1236A>C (p.Gly412=)
2g.168944764T=CA1306207237ABCB11c.768A= (p.Gly256=)
c.2451A= (p.Gly817=)
c.1140A= (n.1140A=)
c.2493A= (p.Gly831=)
c.2553A= (p.Gly851=)
c.777A= (p.Gly259=)
c.1782A= (p.Gly594=)
c.1236A= (p.Gly412=)
2g.168944765C>ACA349127174ABCB11c.767G>T (p.Gly256Val)
c.2450G>T (p.Gly817Val)
c.1139G>T (n.1139G>T)
c.2492G>T (p.Gly831Val)
c.2552G>T (p.Gly851Val)
c.776G>T (p.Gly259Val)
c.1781G>T (p.Gly594Val)
c.1235G>T (p.Gly412Val)
 gnomAD v4
2g.168944765C=CA1306207239ABCB11c.767G= (p.Gly256=)
c.2450G= (p.Gly817=)
c.1139G= (n.1139G=)
c.2492G= (p.Gly831=)
c.2552G= (p.Gly851=)
c.776G= (p.Gly259=)
c.1781G= (p.Gly594=)
c.1235G= (p.Gly412=)
2g.168944765C>GCA349127170ABCB11c.767G>C (p.Gly256Ala)
c.2450G>C (p.Gly817Ala)
c.1139G>C (n.1139G>C)
c.2492G>C (p.Gly831Ala)
c.2552G>C (p.Gly851Ala)
c.776G>C (p.Gly259Ala)
c.1781G>C (p.Gly594Ala)
c.1235G>C (p.Gly412Ala)
2g.168944765C>TCA59880892ABCB11c.767G>A (p.Gly256Glu)
c.2450G>A (p.Gly817Glu)
c.1139G>A (n.1139G>A)
c.2492G>A (p.Gly831Glu)
c.2552G>A (p.Gly851Glu)
c.776G>A (p.Gly259Glu)
c.1781G>A (p.Gly594Glu)
c.1235G>A (p.Gly412Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.168944766C>ACA349127179ABCB11c.766G>T (p.Gly256Ter)
c.2449G>T (p.Gly817Ter)
c.1138G>T (n.1138G>T)
c.2491G>T (p.Gly831Ter)
c.2551G>T (p.Gly851Ter)
c.775G>T (p.Gly259Ter)
c.1780G>T (p.Gly594Ter)
c.1234G>T (p.Gly412Ter)
2g.168944766C>GCA349127178ABCB11c.766G>C (p.Gly256Arg)
c.2449G>C (p.Gly817Arg)
c.1138G>C (n.1138G>C)
c.2491G>C (p.Gly831Arg)
c.2551G>C (p.Gly851Arg)
c.775G>C (p.Gly259Arg)
c.1780G>C (p.Gly594Arg)
c.1234G>C (p.Gly412Arg)
2g.168944766C>TCA349127181ABCB11c.766G>A (p.Gly256Arg)
c.2449G>A (p.Gly817Arg)
c.1138G>A (n.1138G>A)
c.2491G>A (p.Gly831Arg)
c.2551G>A (p.Gly851Arg)
c.775G>A (p.Gly259Arg)
c.1780G>A (p.Gly594Arg)
c.1234G>A (p.Gly412Arg)
2g.168944767C>ACA349127183ABCB11c.766-1G>T (n.766-1G>T)
c.2449-1G>T (n.2449-1G>T)
c.1138-1G>T (n.1138-1G>T)
c.2491-1G>T (n.2491-1G>T)
c.2551-1G>T (n.2551-1G>T)
c.775-1G>T (n.775-1G>T)
c.1780-1G>T (n.1780-1G>T)
c.1234-1G>T (n.1234-1G>T)
2g.168944767C>GCA349127188ABCB11c.766-1G>C (n.766-1G>C)
c.2449-1G>C (n.2449-1G>C)
c.1138-1G>C (n.1138-1G>C)
c.2491-1G>C (n.2491-1G>C)
c.2551-1G>C (n.2551-1G>C)
c.775-1G>C (n.775-1G>C)
c.1780-1G>C (n.1780-1G>C)
c.1234-1G>C (n.1234-1G>C)
 gnomAD v4
2g.168944767C>TCA349127184ABCB11c.766-1G>A (n.766-1G>A)
c.2449-1G>A (n.2449-1G>A)
c.1138-1G>A (n.1138-1G>A)
c.2491-1G>A (n.2491-1G>A)
c.2551-1G>A (n.2551-1G>A)
c.775-1G>A (n.775-1G>A)
c.1780-1G>A (n.1780-1G>A)
c.1234-1G>A (n.1234-1G>A)
 ClinVar
2g.168944768T>ACA349127192ABCB11c.766-2A>T (n.766-2A>T)
c.2449-2A>T (n.2449-2A>T)
c.1138-2A>T (n.1138-2A>T)
c.2491-2A>T (n.2491-2A>T)
c.2551-2A>T (n.2551-2A>T)
c.775-2A>T (n.775-2A>T)
c.1780-2A>T (n.1780-2A>T)
c.1234-2A>T (n.1234-2A>T)
2g.168944768T>CCA349127194ABCB11c.766-2A>G (n.766-2A>G)
c.2449-2A>G (n.2449-2A>G)
c.1138-2A>G (n.1138-2A>G)
c.2491-2A>G (n.2491-2A>G)
c.2551-2A>G (n.2551-2A>G)
c.775-2A>G (n.775-2A>G)
c.1780-2A>G (n.1780-2A>G)
c.1234-2A>G (n.1234-2A>G)
2g.168944768T>GCA349127196ABCB11c.766-2A>C (n.766-2A>C)
c.2449-2A>C (n.2449-2A>C)
c.1138-2A>C (n.1138-2A>C)
c.2491-2A>C (n.2491-2A>C)
c.2551-2A>C (n.2551-2A>C)
c.775-2A>C (n.775-2A>C)
c.1780-2A>C (n.1780-2A>C)
c.1234-2A>C (n.1234-2A>C)
2g.168944770A=CA1306207240ABCB11c.766-4T= (n.766-4T=)
c.2449-4T= (n.2449-4T=)
c.1138-4T= (n.1138-4T=)
c.2491-4T= (n.2491-4T=)
c.2551-4T= (n.2551-4T=)
c.775-4T= (n.775-4T=)
c.1780-4T= (n.1780-4T=)
c.1234-4T= (n.1234-4T=)
2g.168944770A>CCA1039029825ABCB11c.766-4T>G (n.766-4T>G)
c.2449-4T>G (n.2449-4T>G)
c.1138-4T>G (n.1138-4T>G)
c.2491-4T>G (n.2491-4T>G)
c.2551-4T>G (n.2551-4T>G)
c.775-4T>G (n.775-4T>G)
c.1780-4T>G (n.1780-4T>G)
c.1234-4T>G (n.1234-4T>G)
 dbSNP gnomAD v3 gnomAD v4
2g.168944773C>TCA2697551279ABCB11c.766-7G>A (n.766-7G>A)
c.2449-7G>A (n.2449-7G>A)
c.1138-7G>A (n.1138-7G>A)
c.2491-7G>A (n.2491-7G>A)
c.2551-7G>A (n.2551-7G>A)
c.775-7G>A (n.775-7G>A)
c.1780-7G>A (n.1780-7G>A)
c.1234-7G>A (n.1234-7G>A)
 ClinVar
2g.168944774A=CA1306207241ABCB11c.766-8T= (n.766-8T=)
c.2449-8T= (n.2449-8T=)
c.1138-8T= (n.1138-8T=)
c.2491-8T= (n.2491-8T=)
c.2551-8T= (n.2551-8T=)
c.775-8T= (n.775-8T=)
c.1780-8T= (n.1780-8T=)
c.1234-8T= (n.1234-8T=)
2g.168944774A>GCA537971253ABCB11c.766-8T>C (n.766-8T>C)
c.2449-8T>C (n.2449-8T>C)
c.1138-8T>C (n.1138-8T>C)
c.2491-8T>C (n.2491-8T>C)
c.2551-8T>C (n.2551-8T>C)
c.775-8T>C (n.775-8T>C)
c.1780-8T>C (n.1780-8T>C)
c.1234-8T>C (n.1234-8T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.168944775T>CCA2499215233ABCB11c.766-9A>G (n.766-9A>G)
c.2449-9A>G (n.2449-9A>G)
c.1138-9A>G (n.1138-9A>G)
c.2491-9A>G (n.2491-9A>G)
c.2551-9A>G (n.2551-9A>G)
c.775-9A>G (n.775-9A>G)
c.1780-9A>G (n.1780-9A>G)
c.1234-9A>G (n.1234-9A>G)
 ClinVar dbSNP gnomAD v4
2g.168944775T>GCA1951274ABCB11c.766-9A>C (n.766-9A>C)
c.2449-9A>C (n.2449-9A>C)
c.1138-9A>C (n.1138-9A>C)
c.2491-9A>C (n.2491-9A>C)
c.2551-9A>C (n.2551-9A>C)
c.775-9A>C (n.775-9A>C)
c.1780-9A>C (n.1780-9A>C)
c.1234-9A>C (n.1234-9A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168944775T=CA1306207244ABCB11c.766-9A= (n.766-9A=)
c.2449-9A= (n.2449-9A=)
c.1138-9A= (n.1138-9A=)
c.2491-9A= (n.2491-9A=)
c.2551-9A= (n.2551-9A=)
c.775-9A= (n.775-9A=)
c.1780-9A= (n.1780-9A=)
c.1234-9A= (n.1234-9A=)
2g.168944777A=CA1306207245ABCB11c.766-11T= (n.766-11T=)
c.2449-11T= (n.2449-11T=)
c.1138-11T= (n.1138-11T=)
c.2491-11T= (n.2491-11T=)
c.2551-11T= (n.2551-11T=)
c.775-11T= (n.775-11T=)
c.1780-11T= (n.1780-11T=)
c.1234-11T= (n.1234-11T=)
2g.168944777A>GCA1306207246ABCB11c.766-11T>C (n.766-11T>C)
c.2449-11T>C (n.2449-11T>C)
c.1138-11T>C (n.1138-11T>C)
c.2491-11T>C (n.2491-11T>C)
c.2551-11T>C (n.2551-11T>C)
c.775-11T>C (n.775-11T>C)
c.1780-11T>C (n.1780-11T>C)
c.1234-11T>C (n.1234-11T>C)
 dbSNP
2g.168944778A=CA1306207248ABCB11c.766-12T= (n.766-12T=)
c.2449-12T= (n.2449-12T=)
c.1138-12T= (n.1138-12T=)
c.2491-12T= (n.2491-12T=)
c.2551-12T= (n.2551-12T=)
c.775-12T= (n.775-12T=)
c.1780-12T= (n.1780-12T=)
c.1234-12T= (n.1234-12T=)
2g.168944778A>GCA1951275ABCB11c.766-12T>C (n.766-12T>C)
c.2449-12T>C (n.2449-12T>C)
c.1138-12T>C (n.1138-12T>C)
c.2491-12T>C (n.2491-12T>C)
c.2551-12T>C (n.2551-12T>C)
c.775-12T>C (n.775-12T>C)
c.1780-12T>C (n.1780-12T>C)
c.1234-12T>C (n.1234-12T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.168944778A>TCA2661805102ABCB11c.766-12T>A (n.766-12T>A)
c.2449-12T>A (n.2449-12T>A)
c.1138-12T>A (n.1138-12T>A)
c.2491-12T>A (n.2491-12T>A)
c.2551-12T>A (n.2551-12T>A)
c.775-12T>A (n.775-12T>A)
c.1780-12T>A (n.1780-12T>A)
c.1234-12T>A (n.1234-12T>A)
 gnomAD v4
2g.168944781G>ACA1306207250ABCB11c.766-15C>T (n.766-15C>T)
c.2449-15C>T (n.2449-15C>T)
c.1138-15C>T (n.1138-15C>T)
c.2491-15C>T (n.2491-15C>T)
c.2551-15C>T (n.2551-15C>T)
c.775-15C>T (n.775-15C>T)
c.1780-15C>T (n.1780-15C>T)
c.1234-15C>T (n.1234-15C>T)
 dbSNP gnomAD v4
2g.168944781G=CA1306207249ABCB11c.766-15C= (n.766-15C=)
c.2449-15C= (n.2449-15C=)
c.1138-15C= (n.1138-15C=)
c.2491-15C= (n.2491-15C=)
c.2551-15C= (n.2551-15C=)
c.775-15C= (n.775-15C=)
c.1780-15C= (n.1780-15C=)
c.1234-15C= (n.1234-15C=)
2g.168944782G>ACA760458207ABCB11c.766-16C>T (n.766-16C>T)
c.2449-16C>T (n.2449-16C>T)
c.1138-16C>T (n.1138-16C>T)
c.2491-16C>T (n.2491-16C>T)
c.2551-16C>T (n.2551-16C>T)
c.775-16C>T (n.775-16C>T)
c.1780-16C>T (n.1780-16C>T)
c.1234-16C>T (n.1234-16C>T)
 dbSNP gnomAD v4
2g.168944782G=CA1306207252ABCB11c.766-16C= (n.766-16C=)
c.2449-16C= (n.2449-16C=)
c.1138-16C= (n.1138-16C=)
c.2491-16C= (n.2491-16C=)
c.2551-16C= (n.2551-16C=)
c.775-16C= (n.775-16C=)
c.1780-16C= (n.1780-16C=)
c.1234-16C= (n.1234-16C=)
2g.168944783_168944784delinsGACA1306207255ABCB11c.766-18_766-17delinsTC (n.766-18_766-17delinsTC)
c.2449-18_2449-17delinsTC (n.2449-18_2449-17delinsTC)
c.1138-18_1138-17delinsTC (n.1138-18_1138-17delinsTC)
c.2491-18_2491-17delinsTC (n.2491-18_2491-17delinsTC)
c.2551-18_2551-17delinsTC (n.2551-18_2551-17delinsTC)
c.775-18_775-17delinsTC (n.775-18_775-17delinsTC)
c.1780-18_1780-17delinsTC (n.1780-18_1780-17delinsTC)
c.1234-18_1234-17delinsTC (n.1234-18_1234-17delinsTC)
2g.168944784delCA59880918ABCB11c.766-18del (n.766-18del)
c.2449-18del (n.2449-18del)
c.1138-18del (n.1138-18del)
c.2491-18del (n.2491-18del)
c.2551-18del (n.2551-18del)
c.775-18del (n.775-18del)
c.1780-18del (n.1780-18del)
c.1234-18del (n.1234-18del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.168944784A>TCA2739271532ABCB11c.766-18T>A (n.766-18T>A)
c.2449-18T>A (n.2449-18T>A)
c.1138-18T>A (n.1138-18T>A)
c.2491-18T>A (n.2491-18T>A)
c.2551-18T>A (n.2551-18T>A)
c.775-18T>A (n.775-18T>A)
c.1780-18T>A (n.1780-18T>A)
c.1234-18T>A (n.1234-18T>A)
 ClinVar
2g.168944786A>CCA2661805103ABCB11c.766-20T>G (n.766-20T>G)
c.2449-20T>G (n.2449-20T>G)
c.1138-20T>G (n.1138-20T>G)
c.2491-20T>G (n.2491-20T>G)
c.2551-20T>G (n.2551-20T>G)
c.775-20T>G (n.775-20T>G)
c.1780-20T>G (n.1780-20T>G)
c.1234-20T>G (n.1234-20T>G)
 gnomAD v4
2g.168944787T>ACA537971254ABCB11c.766-21A>T (n.766-21A>T)
c.2449-21A>T (n.2449-21A>T)
c.1138-21A>T (n.1138-21A>T)
c.2491-21A>T (n.2491-21A>T)
c.2551-21A>T (n.2551-21A>T)
c.775-21A>T (n.775-21A>T)
c.1780-21A>T (n.1780-21A>T)
c.1234-21A>T (n.1234-21A>T)
 dbSNP gnomAD v2 gnomAD v4
2g.168944787T>CCA1951276ABCB11c.766-21A>G (n.766-21A>G)
c.2449-21A>G (n.2449-21A>G)
c.1138-21A>G (n.1138-21A>G)
c.2491-21A>G (n.2491-21A>G)
c.2551-21A>G (n.2551-21A>G)
c.775-21A>G (n.775-21A>G)
c.1780-21A>G (n.1780-21A>G)
c.1234-21A>G (n.1234-21A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168944787T=CA1306207258ABCB11c.766-21A= (n.766-21A=)
c.2449-21A= (n.2449-21A=)
c.1138-21A= (n.1138-21A=)
c.2491-21A= (n.2491-21A=)
c.2551-21A= (n.2551-21A=)
c.775-21A= (n.775-21A=)
c.1780-21A= (n.1780-21A=)
c.1234-21A= (n.1234-21A=)
2g.168944788_168944790delCA2753094768ABCB11c.766-23_766-21del (n.766-23_766-21del)
c.2449-23_2449-21del (n.2449-23_2449-21del)
c.1138-23_1138-21del (n.1138-23_1138-21del)
c.2491-23_2491-21del (n.2491-23_2491-21del)
c.2551-23_2551-21del (n.2551-23_2551-21del)
c.775-23_775-21del (n.775-23_775-21del)
c.1780-23_1780-21del (n.1780-23_1780-21del)
c.1234-23_1234-21del (n.1234-23_1234-21del)
2g.168944792G>ACA2661805104ABCB11c.766-26C>T (n.766-26C>T)
c.2449-26C>T (n.2449-26C>T)
c.1138-26C>T (n.1138-26C>T)
c.2491-26C>T (n.2491-26C>T)
c.2551-26C>T (n.2551-26C>T)
c.775-26C>T (n.775-26C>T)
c.1780-26C>T (n.1780-26C>T)
c.1234-26C>T (n.1234-26C>T)
 gnomAD v4
2g.168944794G>CCA2661805105ABCB11c.766-28C>G (n.766-28C>G)
c.2449-28C>G (n.2449-28C>G)
c.1138-28C>G (n.1138-28C>G)
c.2491-28C>G (n.2491-28C>G)
c.2551-28C>G (n.2551-28C>G)
c.775-28C>G (n.775-28C>G)
c.1780-28C>G (n.1780-28C>G)
c.1234-28C>G (n.1234-28C>G)
 gnomAD v4
2g.168944794G=CA1306207264ABCB11c.766-28C= (n.766-28C=)
c.2449-28C= (n.2449-28C=)
c.1138-28C= (n.1138-28C=)
c.2491-28C= (n.2491-28C=)
c.2551-28C= (n.2551-28C=)
c.775-28C= (n.775-28C=)
c.1780-28C= (n.1780-28C=)
c.1234-28C= (n.1234-28C=)
2g.168944794G>TCA59880927ABCB11c.766-28C>A (n.766-28C>A)
c.2449-28C>A (n.2449-28C>A)
c.1138-28C>A (n.1138-28C>A)
c.2491-28C>A (n.2491-28C>A)
c.2551-28C>A (n.2551-28C>A)
c.775-28C>A (n.775-28C>A)
c.1780-28C>A (n.1780-28C>A)
c.1234-28C>A (n.1234-28C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168944796A>CCA2700975189ABCB11c.766-30T>G (n.766-30T>G)
c.2449-30T>G (n.2449-30T>G)
c.1138-30T>G (n.1138-30T>G)
c.2491-30T>G (n.2491-30T>G)
c.2551-30T>G (n.2551-30T>G)
c.775-30T>G (n.775-30T>G)
c.1780-30T>G (n.1780-30T>G)
c.1234-30T>G (n.1234-30T>G)
 dbSNP
2g.168944798T>CCA1306207268ABCB11c.766-32A>G (n.766-32A>G)
c.2449-32A>G (n.2449-32A>G)
c.1138-32A>G (n.1138-32A>G)
c.2491-32A>G (n.2491-32A>G)
c.2551-32A>G (n.2551-32A>G)
c.775-32A>G (n.775-32A>G)
c.1780-32A>G (n.1780-32A>G)
c.1234-32A>G (n.1234-32A>G)
 dbSNP
2g.168944798T=CA1306207266ABCB11c.766-32A= (n.766-32A=)
c.2449-32A= (n.2449-32A=)
c.1138-32A= (n.1138-32A=)
c.2491-32A= (n.2491-32A=)
c.2551-32A= (n.2551-32A=)
c.775-32A= (n.775-32A=)
c.1780-32A= (n.1780-32A=)
c.1234-32A= (n.1234-32A=)

Number of alleles fetched