Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.168944625C>ACA349126084ABCB11c.907G>T (p.Asp303Tyr)
c.2590G>T (p.Asp864Tyr)
c.1279G>T (n.1279G>T)
c.2632G>T (p.Asp878Tyr)
c.2692G>T (p.Asp898Tyr)
c.916G>T (p.Asp306Tyr)
c.1921G>T (p.Asp641Tyr)
c.1375G>T (p.Asp459Tyr)
 COSMIC COSMIC
2g.168944625C>GCA349126099ABCB11c.907G>C (p.Asp303His)
c.2590G>C (p.Asp864His)
c.1279G>C (n.1279G>C)
c.2632G>C (p.Asp878His)
c.2692G>C (p.Asp898His)
c.916G>C (p.Asp306His)
c.1921G>C (p.Asp641His)
c.1375G>C (p.Asp459His)
 gnomAD v4
2g.168944625C>TCA349126098ABCB11c.907G>A (p.Asp303Asn)
c.2590G>A (p.Asp864Asn)
c.1279G>A (n.1279G>A)
c.2632G>A (p.Asp878Asn)
c.2692G>A (p.Asp898Asn)
c.916G>A (p.Asp306Asn)
c.1921G>A (p.Asp641Asn)
c.1375G>A (p.Asp459Asn)
2g.168944626T>ACA429985192ABCB11c.906A>T (p.Thr302=)
c.2589A>T (p.Thr863=)
c.1278A>T (n.1278A>T)
c.2631A>T (p.Thr877=)
c.2691A>T (p.Thr897=)
c.915A>T (p.Thr305=)
c.1920A>T (p.Thr640=)
c.1374A>T (p.Thr458=)
2g.168944626T>CCA429985190ABCB11c.906A>G (p.Thr302=)
c.2589A>G (p.Thr863=)
c.1278A>G (n.1278A>G)
c.2631A>G (p.Thr877=)
c.2691A>G (p.Thr897=)
c.915A>G (p.Thr305=)
c.1920A>G (p.Thr640=)
c.1374A>G (p.Thr458=)
 gnomAD v4
2g.168944626T>GCA429985191ABCB11c.906A>C (p.Thr302=)
c.2589A>C (p.Thr863=)
c.1278A>C (n.1278A>C)
c.2631A>C (p.Thr877=)
c.2691A>C (p.Thr897=)
c.915A>C (p.Thr305=)
c.1920A>C (p.Thr640=)
c.1374A>C (p.Thr458=)
2g.168944627G>ACA349126102ABCB11c.905C>T (p.Thr302Ile)
c.2588C>T (p.Thr863Ile)
c.1277C>T (n.1277C>T)
c.2630C>T (p.Thr877Ile)
c.2690C>T (p.Thr897Ile)
c.914C>T (p.Thr305Ile)
c.1919C>T (p.Thr640Ile)
c.1373C>T (p.Thr458Ile)
2g.168944627G>CCA349126105ABCB11c.905C>G (p.Thr302Arg)
c.2588C>G (p.Thr863Arg)
c.1277C>G (n.1277C>G)
c.2630C>G (p.Thr877Arg)
c.2690C>G (p.Thr897Arg)
c.914C>G (p.Thr305Arg)
c.1919C>G (p.Thr640Arg)
c.1373C>G (p.Thr458Arg)
2g.168944627G>TCA349126103ABCB11c.905C>A (p.Thr302Lys)
c.2588C>A (p.Thr863Lys)
c.1277C>A (n.1277C>A)
c.2630C>A (p.Thr877Lys)
c.2690C>A (p.Thr897Lys)
c.914C>A (p.Thr305Lys)
c.1919C>A (p.Thr640Lys)
c.1373C>A (p.Thr458Lys)
2g.168944628T>ACA349126106ABCB11c.904A>T (p.Thr302Ser)
c.2587A>T (p.Thr863Ser)
c.1276A>T (n.1276A>T)
c.2629A>T (p.Thr877Ser)
c.2689A>T (p.Thr897Ser)
c.913A>T (p.Thr305Ser)
c.1918A>T (p.Thr640Ser)
c.1372A>T (p.Thr458Ser)
2g.168944628T>CCA349126108ABCB11c.904A>G (p.Thr302Ala)
c.2587A>G (p.Thr863Ala)
c.1276A>G (n.1276A>G)
c.2629A>G (p.Thr877Ala)
c.2689A>G (p.Thr897Ala)
c.913A>G (p.Thr305Ala)
c.1918A>G (p.Thr640Ala)
c.1372A>G (p.Thr458Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.168944628T>GCA349126109ABCB11c.904A>C (p.Thr302Pro)
c.2587A>C (p.Thr863Pro)
c.1276A>C (n.1276A>C)
c.2629A>C (p.Thr877Pro)
c.2689A>C (p.Thr897Pro)
c.913A>C (p.Thr305Pro)
c.1918A>C (p.Thr640Pro)
c.1372A>C (p.Thr458Pro)
2g.168944628T=CA1306213475ABCB11c.904A= (p.Thr302=)
c.2587A= (p.Thr863=)
c.1276A= (n.1276A=)
c.2629A= (p.Thr877=)
c.2689A= (p.Thr897=)
c.913A= (p.Thr305=)
c.1918A= (p.Thr640=)
c.1372A= (p.Thr458=)
2g.168944629A=CA1306213476ABCB11c.903T= (p.Ala301=)
c.2586T= (p.Ala862=)
c.1275T= (n.1275T=)
c.2628T= (p.Ala876=)
c.2688T= (p.Ala896=)
c.912T= (p.Ala304=)
c.1917T= (p.Ala639=)
c.1371T= (p.Ala457=)
2g.168944629A>CCA429985194ABCB11c.903T>G (p.Ala301=)
c.2586T>G (p.Ala862=)
c.1275T>G (n.1275T>G)
c.2628T>G (p.Ala876=)
c.2688T>G (p.Ala896=)
c.912T>G (p.Ala304=)
c.1917T>G (p.Ala639=)
c.1371T>G (p.Ala457=)
2g.168944629A>GCA429985195ABCB11c.903T>C (p.Ala301=)
c.2586T>C (p.Ala862=)
c.1275T>C (n.1275T>C)
c.2628T>C (p.Ala876=)
c.2688T>C (p.Ala896=)
c.912T>C (p.Ala304=)
c.1917T>C (p.Ala639=)
c.1371T>C (p.Ala457=)
 dbSNP gnomAD v2 gnomAD v4
2g.168944629A>TCA429985196ABCB11c.903T>A (p.Ala301=)
c.2586T>A (p.Ala862=)
c.1275T>A (n.1275T>A)
c.2628T>A (p.Ala876=)
c.2688T>A (p.Ala896=)
c.912T>A (p.Ala304=)
c.1917T>A (p.Ala639=)
c.1371T>A (p.Ala457=)
2g.168944630G>ACA349126110ABCB11c.902C>T (p.Ala301Val)
c.2585C>T (p.Ala862Val)
c.1274C>T (n.1274C>T)
c.2627C>T (p.Ala876Val)
c.2687C>T (p.Ala896Val)
c.911C>T (p.Ala304Val)
c.1916C>T (p.Ala639Val)
c.1370C>T (p.Ala457Val)
2g.168944630G>CCA349126111ABCB11c.902C>G (p.Ala301Gly)
c.2585C>G (p.Ala862Gly)
c.1274C>G (n.1274C>G)
c.2627C>G (p.Ala876Gly)
c.2687C>G (p.Ala896Gly)
c.911C>G (p.Ala304Gly)
c.1916C>G (p.Ala639Gly)
c.1370C>G (p.Ala457Gly)
 dbSNP gnomAD v4
2g.168944630G=CA1306213477ABCB11c.902C= (p.Ala301=)
c.2585C= (p.Ala862=)
c.1274C= (n.1274C=)
c.2627C= (p.Ala876=)
c.2687C= (p.Ala896=)
c.911C= (p.Ala304=)
c.1916C= (p.Ala639=)
c.1370C= (p.Ala457=)
2g.168944630G>TCA349126112ABCB11c.902C>A (p.Ala301Asp)
c.2585C>A (p.Ala862Asp)
c.1274C>A (n.1274C>A)
c.2627C>A (p.Ala876Asp)
c.2687C>A (p.Ala896Asp)
c.911C>A (p.Ala304Asp)
c.1916C>A (p.Ala639Asp)
c.1370C>A (p.Ala457Asp)
2g.168944631C>ACA349126115ABCB11c.901G>T (p.Ala301Ser)
c.2584G>T (p.Ala862Ser)
c.1273G>T (n.1273G>T)
c.2626G>T (p.Ala876Ser)
c.2686G>T (p.Ala896Ser)
c.910G>T (p.Ala304Ser)
c.1915G>T (p.Ala639Ser)
c.1369G>T (p.Ala457Ser)
2g.168944631C>GCA349126117ABCB11c.901G>C (p.Ala301Pro)
c.2584G>C (p.Ala862Pro)
c.1273G>C (n.1273G>C)
c.2626G>C (p.Ala876Pro)
c.2686G>C (p.Ala896Pro)
c.910G>C (p.Ala304Pro)
c.1915G>C (p.Ala639Pro)
c.1369G>C (p.Ala457Pro)
2g.168944631C>TCA349126122ABCB11c.901G>A (p.Ala301Thr)
c.2584G>A (p.Ala862Thr)
c.1273G>A (n.1273G>A)
c.2626G>A (p.Ala876Thr)
c.2686G>A (p.Ala896Thr)
c.910G>A (p.Ala304Thr)
c.1915G>A (p.Ala639Thr)
c.1369G>A (p.Ala457Thr)
2g.168944632A>CCA429985199ABCB11c.900T>G (p.Leu300=)
c.2583T>G (p.Leu861=)
c.1272T>G (n.1272T>G)
c.2625T>G (p.Leu875=)
c.2685T>G (p.Leu895=)
c.909T>G (p.Leu303=)
c.1914T>G (p.Leu638=)
c.1368T>G (p.Leu456=)
2g.168944632A>GCA429985200ABCB11c.900T>C (p.Leu300=)
c.2583T>C (p.Leu861=)
c.1272T>C (n.1272T>C)
c.2625T>C (p.Leu875=)
c.2685T>C (p.Leu895=)
c.909T>C (p.Leu303=)
c.1914T>C (p.Leu638=)
c.1368T>C (p.Leu456=)
 gnomAD v4
2g.168944632A>TCA429985201ABCB11c.900T>A (p.Leu300=)
c.2583T>A (p.Leu861=)
c.1272T>A (n.1272T>A)
c.2625T>A (p.Leu875=)
c.2685T>A (p.Leu895=)
c.909T>A (p.Leu303=)
c.1914T>A (p.Leu638=)
c.1368T>A (p.Leu456=)
2g.168944633A>CCA349126123ABCB11c.899T>G (p.Leu300Arg)
c.2582T>G (p.Leu861Arg)
c.1271T>G (n.1271T>G)
c.2624T>G (p.Leu875Arg)
c.2684T>G (p.Leu895Arg)
c.908T>G (p.Leu303Arg)
c.1913T>G (p.Leu638Arg)
c.1367T>G (p.Leu456Arg)
2g.168944633A>GCA349126124ABCB11c.899T>C (p.Leu300Pro)
c.2582T>C (p.Leu861Pro)
c.1271T>C (n.1271T>C)
c.2624T>C (p.Leu875Pro)
c.2684T>C (p.Leu895Pro)
c.908T>C (p.Leu303Pro)
c.1913T>C (p.Leu638Pro)
c.1367T>C (p.Leu456Pro)
2g.168944633A>TCA349126128ABCB11c.899T>A (p.Leu300His)
c.2582T>A (p.Leu861His)
c.1271T>A (n.1271T>A)
c.2624T>A (p.Leu875His)
c.2684T>A (p.Leu895His)
c.908T>A (p.Leu303His)
c.1913T>A (p.Leu638His)
c.1367T>A (p.Leu456His)
2g.168944634G>ACA349126131ABCB11c.898C>T (p.Leu300Phe)
c.2581C>T (p.Leu861Phe)
c.1270C>T (n.1270C>T)
c.2623C>T (p.Leu875Phe)
c.2683C>T (p.Leu895Phe)
c.907C>T (p.Leu303Phe)
c.1912C>T (p.Leu638Phe)
c.1366C>T (p.Leu456Phe)
2g.168944634G>CCA349126136ABCB11c.898C>G (p.Leu300Val)
c.2581C>G (p.Leu861Val)
c.1270C>G (n.1270C>G)
c.2623C>G (p.Leu875Val)
c.2683C>G (p.Leu895Val)
c.907C>G (p.Leu303Val)
c.1912C>G (p.Leu638Val)
c.1366C>G (p.Leu456Val)
2g.168944634G>TCA349126133ABCB11c.898C>A (p.Leu300Ile)
c.2581C>A (p.Leu861Ile)
c.1270C>A (n.1270C>A)
c.2623C>A (p.Leu875Ile)
c.2683C>A (p.Leu895Ile)
c.907C>A (p.Leu303Ile)
c.1912C>A (p.Leu638Ile)
c.1366C>A (p.Leu456Ile)
2g.168944635T>ACA349126137ABCB11c.897A>T (p.Arg299Ser)
c.2580A>T (p.Arg860Ser)
c.1269A>T (n.1269A>T)
c.2622A>T (p.Arg874Ser)
c.2682A>T (p.Arg894Ser)
c.906A>T (p.Arg302Ser)
c.1911A>T (p.Arg637Ser)
c.1365A>T (p.Arg455Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168944635T>CCA429985203ABCB11c.897A>G (p.Arg299=)
c.2580A>G (p.Arg860=)
c.1269A>G (n.1269A>G)
c.2622A>G (p.Arg874=)
c.2682A>G (p.Arg894=)
c.906A>G (p.Arg302=)
c.1911A>G (p.Arg637=)
c.1365A>G (p.Arg455=)
2g.168944635T>GCA349126138ABCB11c.897A>C (p.Arg299Ser)
c.2580A>C (p.Arg860Ser)
c.1269A>C (n.1269A>C)
c.2622A>C (p.Arg874Ser)
c.2682A>C (p.Arg894Ser)
c.906A>C (p.Arg302Ser)
c.1911A>C (p.Arg637Ser)
c.1365A>C (p.Arg455Ser)
2g.168944635T=CA1306213478ABCB11c.897A= (p.Arg299=)
c.2580A= (p.Arg860=)
c.1269A= (n.1269A=)
c.2622A= (p.Arg874=)
c.2682A= (p.Arg894=)
c.906A= (p.Arg302=)
c.1911A= (p.Arg637=)
c.1365A= (p.Arg455=)
2g.168944636C>ACA349126140ABCB11c.896G>T (p.Arg299Ile)
c.2579G>T (p.Arg860Ile)
c.1268G>T (n.1268G>T)
c.2621G>T (p.Arg874Ile)
c.2681G>T (p.Arg894Ile)
c.905G>T (p.Arg302Ile)
c.1910G>T (p.Arg637Ile)
c.1364G>T (p.Arg455Ile)
2g.168944636C>GCA349126143ABCB11c.896G>C (p.Arg299Thr)
c.2579G>C (p.Arg860Thr)
c.1268G>C (n.1268G>C)
c.2621G>C (p.Arg874Thr)
c.2681G>C (p.Arg894Thr)
c.905G>C (p.Arg302Thr)
c.1910G>C (p.Arg637Thr)
c.1364G>C (p.Arg455Thr)
2g.168944636C>TCA349126144ABCB11c.896G>A (p.Arg299Lys)
c.2579G>A (p.Arg860Lys)
c.1268G>A (n.1268G>A)
c.2621G>A (p.Arg874Lys)
c.2681G>A (p.Arg894Lys)
c.905G>A (p.Arg302Lys)
c.1910G>A (p.Arg637Lys)
c.1364G>A (p.Arg455Lys)
2g.168944637T>ACA349126148ABCB11c.895A>T (p.Arg299Ter)
c.2578A>T (p.Arg860Ter)
c.1267A>T (n.1267A>T)
c.2620A>T (p.Arg874Ter)
c.2680A>T (p.Arg894Ter)
c.904A>T (p.Arg302Ter)
c.1909A>T (p.Arg637Ter)
c.1363A>T (p.Arg455Ter)
2g.168944637T>CCA349126151ABCB11c.895A>G (p.Arg299Gly)
c.2578A>G (p.Arg860Gly)
c.1267A>G (n.1267A>G)
c.2620A>G (p.Arg874Gly)
c.2680A>G (p.Arg894Gly)
c.904A>G (p.Arg302Gly)
c.1909A>G (p.Arg637Gly)
c.1363A>G (p.Arg455Gly)
2g.168944637T>GCA429985207ABCB11c.895A>C (p.Arg299=)
c.2578A>C (p.Arg860=)
c.1267A>C (n.1267A>C)
c.2620A>C (p.Arg874=)
c.2680A>C (p.Arg894=)
c.904A>C (p.Arg302=)
c.1909A>C (p.Arg637=)
c.1363A>C (p.Arg455=)
2g.168944638T>ACA429985208ABCB11c.894A>T (p.Thr298=)
c.2577A>T (p.Thr859=)
c.1266A>T (n.1266A>T)
c.2619A>T (p.Thr873=)
c.2679A>T (p.Thr893=)
c.903A>T (p.Thr301=)
c.1908A>T (p.Thr636=)
c.1362A>T (p.Thr454=)
2g.168944638T>CCA429985209ABCB11c.894A>G (p.Thr298=)
c.2577A>G (p.Thr859=)
c.1266A>G (n.1266A>G)
c.2619A>G (p.Thr873=)
c.2679A>G (p.Thr893=)
c.903A>G (p.Thr301=)
c.1908A>G (p.Thr636=)
c.1362A>G (p.Thr454=)
2g.168944638T>GCA429985210ABCB11c.894A>C (p.Thr298=)
c.2577A>C (p.Thr859=)
c.1266A>C (n.1266A>C)
c.2619A>C (p.Thr873=)
c.2679A>C (p.Thr893=)
c.903A>C (p.Thr301=)
c.1908A>C (p.Thr636=)
c.1362A>C (p.Thr454=)
2g.168944639G>ACA349126156ABCB11c.893C>T (p.Thr298Ile)
c.2576C>T (p.Thr859Ile)
c.1265C>T (n.1265C>T)
c.2618C>T (p.Thr873Ile)
c.2678C>T (p.Thr893Ile)
c.902C>T (p.Thr301Ile)
c.1907C>T (p.Thr636Ile)
c.1361C>T (p.Thr454Ile)
 gnomAD v4
2g.168944639G>CCA349126159ABCB11c.893C>G (p.Thr298Arg)
c.2576C>G (p.Thr859Arg)
c.1265C>G (n.1265C>G)
c.2618C>G (p.Thr873Arg)
c.2678C>G (p.Thr893Arg)
c.902C>G (p.Thr301Arg)
c.1907C>G (p.Thr636Arg)
c.1361C>G (p.Thr454Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.168944639G=CA1306213479ABCB11c.893C= (p.Thr298=)
c.2576C= (p.Thr859=)
c.1265C= (n.1265C=)
c.2618C= (p.Thr873=)
c.2678C= (p.Thr893=)
c.902C= (p.Thr301=)
c.1907C= (p.Thr636=)
c.1361C= (p.Thr454=)
2g.168944639G>TCA349126162ABCB11c.893C>A (p.Thr298Lys)
c.2576C>A (p.Thr859Lys)
c.1265C>A (n.1265C>A)
c.2618C>A (p.Thr873Lys)
c.2678C>A (p.Thr893Lys)
c.902C>A (p.Thr301Lys)
c.1907C>A (p.Thr636Lys)
c.1361C>A (p.Thr454Lys)
2g.168944640T>ACA349126167ABCB11c.892A>T (p.Thr298Ser)
c.2575A>T (p.Thr859Ser)
c.1264A>T (n.1264A>T)
c.2617A>T (p.Thr873Ser)
c.2677A>T (p.Thr893Ser)
c.901A>T (p.Thr301Ser)
c.1906A>T (p.Thr636Ser)
c.1360A>T (p.Thr454Ser)
2g.168944640T>CCA1951248ABCB11c.892A>G (p.Thr298Ala)
c.2575A>G (p.Thr859Ala)
c.1264A>G (n.1264A>G)
c.2617A>G (p.Thr873Ala)
c.2677A>G (p.Thr893Ala)
c.901A>G (p.Thr301Ala)
c.1906A>G (p.Thr636Ala)
c.1360A>G (p.Thr454Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168944640T>GCA349126165ABCB11c.892A>C (p.Thr298Pro)
c.2575A>C (p.Thr859Pro)
c.1264A>C (n.1264A>C)
c.2617A>C (p.Thr873Pro)
c.2677A>C (p.Thr893Pro)
c.901A>C (p.Thr301Pro)
c.1906A>C (p.Thr636Pro)
c.1360A>C (p.Thr454Pro)
2g.168944640T=CA1306213480ABCB11c.892A= (p.Thr298=)
c.2575A= (p.Thr859=)
c.1264A= (n.1264A=)
c.2617A= (p.Thr873=)
c.2677A= (p.Thr893=)
c.901A= (p.Thr301=)
c.1906A= (p.Thr636=)
c.1360A= (p.Thr454=)
2g.168944641T>ACA429985211ABCB11c.891A>T (p.Thr297=)
c.2574A>T (p.Thr858=)
c.1263A>T (n.1263A>T)
c.2616A>T (p.Thr872=)
c.2676A>T (p.Thr892=)
c.900A>T (p.Thr300=)
c.1905A>T (p.Thr635=)
c.1359A>T (p.Thr453=)
 ClinVar
2g.168944641T>CCA1951249ABCB11c.891A>G (p.Thr297=)
c.2574A>G (p.Thr858=)
c.1263A>G (n.1263A>G)
c.2616A>G (p.Thr872=)
c.2676A>G (p.Thr892=)
c.900A>G (p.Thr300=)
c.1905A>G (p.Thr635=)
c.1359A>G (p.Thr453=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.168944641T>GCA429985212ABCB11c.891A>C (p.Thr297=)
c.2574A>C (p.Thr858=)
c.1263A>C (n.1263A>C)
c.2616A>C (p.Thr872=)
c.2676A>C (p.Thr892=)
c.900A>C (p.Thr300=)
c.1905A>C (p.Thr635=)
c.1359A>C (p.Thr453=)
2g.168944641T=CA1306213481ABCB11c.891A= (p.Thr297=)
c.2574A= (p.Thr858=)
c.1263A= (n.1263A=)
c.2616A= (p.Thr872=)
c.2676A= (p.Thr892=)
c.900A= (p.Thr300=)
c.1905A= (p.Thr635=)
c.1359A= (p.Thr453=)
2g.168944642G>ACA349126173ABCB11c.890C>T (p.Thr297Ile)
c.2573C>T (p.Thr858Ile)
c.1262C>T (n.1262C>T)
c.2615C>T (p.Thr872Ile)
c.2675C>T (p.Thr892Ile)
c.899C>T (p.Thr300Ile)
c.1904C>T (p.Thr635Ile)
c.1358C>T (p.Thr453Ile)
2g.168944642G>CCA1951250ABCB11c.890C>G (p.Thr297Arg)
c.2573C>G (p.Thr858Arg)
c.1262C>G (n.1262C>G)
c.2615C>G (p.Thr872Arg)
c.2675C>G (p.Thr892Arg)
c.899C>G (p.Thr300Arg)
c.1904C>G (p.Thr635Arg)
c.1358C>G (p.Thr453Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.168944642G=CA1306213482ABCB11c.890C= (p.Thr297=)
c.2573C= (p.Thr858=)
c.1262C= (n.1262C=)
c.2615C= (p.Thr872=)
c.2675C= (p.Thr892=)
c.899C= (p.Thr300=)
c.1904C= (p.Thr635=)
c.1358C= (p.Thr453=)
2g.168944642G>TCA349126176ABCB11c.890C>A (p.Thr297Lys)
c.2573C>A (p.Thr858Lys)
c.1262C>A (n.1262C>A)
c.2615C>A (p.Thr872Lys)
c.2675C>A (p.Thr892Lys)
c.899C>A (p.Thr300Lys)
c.1904C>A (p.Thr635Lys)
c.1358C>A (p.Thr453Lys)
2g.168944643T>ACA349126179ABCB11c.889A>T (p.Thr297Ser)
c.2572A>T (p.Thr858Ser)
c.1261A>T (n.1261A>T)
c.2614A>T (p.Thr872Ser)
c.2674A>T (p.Thr892Ser)
c.898A>T (p.Thr300Ser)
c.1903A>T (p.Thr635Ser)
c.1357A>T (p.Thr453Ser)
2g.168944643T>CCA349126180ABCB11c.889A>G (p.Thr297Ala)
c.2572A>G (p.Thr858Ala)
c.1261A>G (n.1261A>G)
c.2614A>G (p.Thr872Ala)
c.2674A>G (p.Thr892Ala)
c.898A>G (p.Thr300Ala)
c.1903A>G (p.Thr635Ala)
c.1357A>G (p.Thr453Ala)
2g.168944643T>GCA349126184ABCB11c.889A>C (p.Thr297Pro)
c.2572A>C (p.Thr858Pro)
c.1261A>C (n.1261A>C)
c.2614A>C (p.Thr872Pro)
c.2674A>C (p.Thr892Pro)
c.898A>C (p.Thr300Pro)
c.1903A>C (p.Thr635Pro)
c.1357A>C (p.Thr453Pro)
2g.168944644C>ACA349126188ABCB11c.888G>T (p.Leu296Phe)
c.2571G>T (p.Leu857Phe)
c.1260G>T (n.1260G>T)
c.2613G>T (p.Leu871Phe)
c.2673G>T (p.Leu891Phe)
c.897G>T (p.Leu299Phe)
c.1902G>T (p.Leu634Phe)
c.1356G>T (p.Leu452Phe)
2g.168944644C=CA1306213483ABCB11c.888G= (p.Leu296=)
c.2571G= (p.Leu857=)
c.1260G= (n.1260G=)
c.2613G= (p.Leu871=)
c.2673G= (p.Leu891=)
c.897G= (p.Leu299=)
c.1902G= (p.Leu634=)
c.1356G= (p.Leu452=)
2g.168944644C>GCA349126190ABCB11c.888G>C (p.Leu296Phe)
c.2571G>C (p.Leu857Phe)
c.1260G>C (n.1260G>C)
c.2613G>C (p.Leu871Phe)
c.2673G>C (p.Leu891Phe)
c.897G>C (p.Leu299Phe)
c.1902G>C (p.Leu634Phe)
c.1356G>C (p.Leu452Phe)
2g.168944644C>TCA429985214ABCB11c.888G>A (p.Leu296=)
c.2571G>A (p.Leu857=)
c.1260G>A (n.1260G>A)
c.2613G>A (p.Leu871=)
c.2673G>A (p.Leu891=)
c.897G>A (p.Leu299=)
c.1902G>A (p.Leu634=)
c.1356G>A (p.Leu452=)
 dbSNP gnomAD v3 gnomAD v4
2g.168944645A=CA1306213484ABCB11c.887T= (p.Leu296=)
c.2570T= (p.Leu857=)
c.1259T= (n.1259T=)
c.2612T= (p.Leu871=)
c.2672T= (p.Leu891=)
c.896T= (p.Leu299=)
c.1901T= (p.Leu634=)
c.1355T= (p.Leu452=)
2g.168944645A>CCA349126195ABCB11c.887T>G (p.Leu296Trp)
c.2570T>G (p.Leu857Trp)
c.1259T>G (n.1259T>G)
c.2612T>G (p.Leu871Trp)
c.2672T>G (p.Leu891Trp)
c.896T>G (p.Leu299Trp)
c.1901T>G (p.Leu634Trp)
c.1355T>G (p.Leu452Trp)
2g.168944645A>GCA59880710ABCB11c.887T>C (p.Leu296Ser)
c.2570T>C (p.Leu857Ser)
c.1259T>C (n.1259T>C)
c.2612T>C (p.Leu871Ser)
c.2672T>C (p.Leu891Ser)
c.896T>C (p.Leu299Ser)
c.1901T>C (p.Leu634Ser)
c.1355T>C (p.Leu452Ser)
 dbSNP gnomAD v4
2g.168944645A>TCA349126198ABCB11c.887T>A (p.Leu296Ter)
c.2570T>A (p.Leu857Ter)
c.1259T>A (n.1259T>A)
c.2612T>A (p.Leu871Ter)
c.2672T>A (p.Leu891Ter)
c.896T>A (p.Leu299Ter)
c.1901T>A (p.Leu634Ter)
c.1355T>A (p.Leu452Ter)
2g.168944646A=CA1306213485ABCB11c.886T= (p.Leu296=)
c.2569T= (p.Leu857=)
c.1258T= (n.1258T=)
c.2611T= (p.Leu871=)
c.2671T= (p.Leu891=)
c.895T= (p.Leu299=)
c.1900T= (p.Leu634=)
c.1354T= (p.Leu452=)
2g.168944646A>CCA349126202ABCB11c.886T>G (p.Leu296Val)
c.2569T>G (p.Leu857Val)
c.1258T>G (n.1258T>G)
c.2611T>G (p.Leu871Val)
c.2671T>G (p.Leu891Val)
c.895T>G (p.Leu299Val)
c.1900T>G (p.Leu634Val)
c.1354T>G (p.Leu452Val)
 COSMIC
2g.168944646A>GCA1951251ABCB11c.886T>C (p.Leu296=)
c.2569T>C (p.Leu857=)
c.1258T>C (n.1258T>C)
c.2611T>C (p.Leu871=)
c.2671T>C (p.Leu891=)
c.895T>C (p.Leu299=)
c.1900T>C (p.Leu634=)
c.1354T>C (p.Leu452=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168944646A>TCA349126199ABCB11c.886T>A (p.Leu296Met)
c.2569T>A (p.Leu857Met)
c.1258T>A (n.1258T>A)
c.2611T>A (p.Leu871Met)
c.2671T>A (p.Leu891Met)
c.895T>A (p.Leu299Met)
c.1900T>A (p.Leu634Met)
c.1354T>A (p.Leu452Met)
2g.168944647T>ACA429985217ABCB11c.885A>T (p.Ala295=)
c.2568A>T (p.Ala856=)
c.1257A>T (n.1257A>T)
c.2610A>T (p.Ala870=)
c.2670A>T (p.Ala890=)
c.894A>T (p.Ala298=)
c.1899A>T (p.Ala633=)
c.1353A>T (p.Ala451=)
2g.168944647T>CCA1951252ABCB11c.885A>G (p.Ala295=)
c.2568A>G (p.Ala856=)
c.1257A>G (n.1257A>G)
c.2610A>G (p.Ala870=)
c.2670A>G (p.Ala890=)
c.894A>G (p.Ala298=)
c.1899A>G (p.Ala633=)
c.1353A>G (p.Ala451=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168944647T>GCA429985216ABCB11c.885A>C (p.Ala295=)
c.2568A>C (p.Ala856=)
c.1257A>C (n.1257A>C)
c.2610A>C (p.Ala870=)
c.2670A>C (p.Ala890=)
c.894A>C (p.Ala298=)
c.1899A>C (p.Ala633=)
c.1353A>C (p.Ala451=)
2g.168944647T=CA1306213486ABCB11c.885A= (p.Ala295=)
c.2568A= (p.Ala856=)
c.1257A= (n.1257A=)
c.2610A= (p.Ala870=)
c.2670A= (p.Ala890=)
c.894A= (p.Ala298=)
c.1899A= (p.Ala633=)
c.1353A= (p.Ala451=)
2g.168944648G>ACA349126206ABCB11c.884C>T (p.Ala295Val)
c.2567C>T (p.Ala856Val)
c.1256C>T (n.1256C>T)
c.2609C>T (p.Ala870Val)
c.2669C>T (p.Ala890Val)
c.893C>T (p.Ala298Val)
c.1898C>T (p.Ala633Val)
c.1352C>T (p.Ala451Val)
2g.168944648G>CCA349126209ABCB11c.884C>G (p.Ala295Gly)
c.2567C>G (p.Ala856Gly)
c.1256C>G (n.1256C>G)
c.2609C>G (p.Ala870Gly)
c.2669C>G (p.Ala890Gly)
c.893C>G (p.Ala298Gly)
c.1898C>G (p.Ala633Gly)
c.1352C>G (p.Ala451Gly)
2g.168944648G>TCA349126212ABCB11c.884C>A (p.Ala295Glu)
c.2567C>A (p.Ala856Glu)
c.1256C>A (n.1256C>A)
c.2609C>A (p.Ala870Glu)
c.2669C>A (p.Ala890Glu)
c.893C>A (p.Ala298Glu)
c.1898C>A (p.Ala633Glu)
c.1352C>A (p.Ala451Glu)
2g.168944649C>ACA349126218ABCB11c.883G>T (p.Ala295Ser)
c.2566G>T (p.Ala856Ser)
c.1255G>T (n.1255G>T)
c.2608G>T (p.Ala870Ser)
c.2668G>T (p.Ala890Ser)
c.892G>T (p.Ala298Ser)
c.1897G>T (p.Ala633Ser)
c.1351G>T (p.Ala451Ser)
2g.168944649C=CA1306213487ABCB11c.883G= (p.Ala295=)
c.2566G= (p.Ala856=)
c.1255G= (n.1255G=)
c.2608G= (p.Ala870=)
c.2668G= (p.Ala890=)
c.892G= (p.Ala298=)
c.1897G= (p.Ala633=)
c.1351G= (p.Ala451=)
2g.168944649C>GCA349126217ABCB11c.883G>C (p.Ala295Pro)
c.2566G>C (p.Ala856Pro)
c.1255G>C (n.1255G>C)
c.2608G>C (p.Ala870Pro)
c.2668G>C (p.Ala890Pro)
c.892G>C (p.Ala298Pro)
c.1897G>C (p.Ala633Pro)
c.1351G>C (p.Ala451Pro)
2g.168944649C>TCA349126216ABCB11c.883G>A (p.Ala295Thr)
c.2566G>A (p.Ala856Thr)
c.1255G>A (n.1255G>A)
c.2608G>A (p.Ala870Thr)
c.2668G>A (p.Ala890Thr)
c.892G>A (p.Ala298Thr)
c.1897G>A (p.Ala633Thr)
c.1351G>A (p.Ala451Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.168944650T>ACA429985220ABCB11c.882A>T (p.Gly294=)
c.2565A>T (p.Gly855=)
c.1254A>T (n.1254A>T)
c.2607A>T (p.Gly869=)
c.2667A>T (p.Gly889=)
c.891A>T (p.Gly297=)
c.1896A>T (p.Gly632=)
c.1350A>T (p.Gly450=)
2g.168944650T>CCA59880726ABCB11c.882A>G (p.Gly294=)
c.2565A>G (p.Gly855=)
c.1254A>G (n.1254A>G)
c.2607A>G (p.Gly869=)
c.2667A>G (p.Gly889=)
c.891A>G (p.Gly297=)
c.1896A>G (p.Gly632=)
c.1350A>G (p.Gly450=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168944650T>GCA429985221ABCB11c.882A>C (p.Gly294=)
c.2565A>C (p.Gly855=)
c.1254A>C (n.1254A>C)
c.2607A>C (p.Gly869=)
c.2667A>C (p.Gly889=)
c.891A>C (p.Gly297=)
c.1896A>C (p.Gly632=)
c.1350A>C (p.Gly450=)
2g.168944650T=CA1306213488ABCB11c.882A= (p.Gly294=)
c.2565A= (p.Gly855=)
c.1254A= (n.1254A=)
c.2607A= (p.Gly869=)
c.2667A= (p.Gly889=)
c.891A= (p.Gly297=)
c.1896A= (p.Gly632=)
c.1350A= (p.Gly450=)
2g.168944651C>ACA349126221ABCB11c.881G>T (p.Gly294Val)
c.2564G>T (p.Gly855Val)
c.1253G>T (n.1253G>T)
c.2606G>T (p.Gly869Val)
c.2666G>T (p.Gly889Val)
c.890G>T (p.Gly297Val)
c.1895G>T (p.Gly632Val)
c.1349G>T (p.Gly450Val)
2g.168944651C>GCA349126222ABCB11c.881G>C (p.Gly294Ala)
c.2564G>C (p.Gly855Ala)
c.1253G>C (n.1253G>C)
c.2606G>C (p.Gly869Ala)
c.2666G>C (p.Gly889Ala)
c.890G>C (p.Gly297Ala)
c.1895G>C (p.Gly632Ala)
c.1349G>C (p.Gly450Ala)
2g.168944651C>TCA349126225ABCB11c.881G>A (p.Gly294Glu)
c.2564G>A (p.Gly855Glu)
c.1253G>A (n.1253G>A)
c.2606G>A (p.Gly869Glu)
c.2666G>A (p.Gly889Glu)
c.890G>A (p.Gly297Glu)
c.1895G>A (p.Gly632Glu)
c.1349G>A (p.Gly450Glu)
2g.168944652C>ACA349126227ABCB11c.880G>T (p.Gly294Ter)
c.2563G>T (p.Gly855Ter)
c.1252G>T (n.1252G>T)
c.2605G>T (p.Gly869Ter)
c.2665G>T (p.Gly889Ter)
c.889G>T (p.Gly297Ter)
c.1894G>T (p.Gly632Ter)
c.1348G>T (p.Gly450Ter)
2g.168944652C>GCA349126230ABCB11c.880G>C (p.Gly294Arg)
c.2563G>C (p.Gly855Arg)
c.1252G>C (n.1252G>C)
c.2605G>C (p.Gly869Arg)
c.2665G>C (p.Gly889Arg)
c.889G>C (p.Gly297Arg)
c.1894G>C (p.Gly632Arg)
c.1348G>C (p.Gly450Arg)
2g.168944652C>TCA349126242ABCB11c.880G>A (p.Gly294Arg)
c.2563G>A (p.Gly855Arg)
c.1252G>A (n.1252G>A)
c.2605G>A (p.Gly869Arg)
c.2665G>A (p.Gly889Arg)
c.889G>A (p.Gly297Arg)
c.1894G>A (p.Gly632Arg)
c.1348G>A (p.Gly450Arg)
 COSMIC COSMIC
2g.168944653A>CCA429985223ABCB11c.879T>G (p.Pro293=)
c.2562T>G (p.Pro854=)
c.1251T>G (n.1251T>G)
c.2604T>G (p.Pro868=)
c.2664T>G (p.Pro888=)
c.888T>G (p.Pro296=)
c.1893T>G (p.Pro631=)
c.1347T>G (p.Pro449=)
2g.168944653A>GCA429985224ABCB11c.879T>C (p.Pro293=)
c.2562T>C (p.Pro854=)
c.1251T>C (n.1251T>C)
c.2604T>C (p.Pro868=)
c.2664T>C (p.Pro888=)
c.888T>C (p.Pro296=)
c.1893T>C (p.Pro631=)
c.1347T>C (p.Pro449=)
2g.168944653A>TCA429985225ABCB11c.879T>A (p.Pro293=)
c.2562T>A (p.Pro854=)
c.1251T>A (n.1251T>A)
c.2604T>A (p.Pro868=)
c.2664T>A (p.Pro888=)
c.888T>A (p.Pro296=)
c.1893T>A (p.Pro631=)
c.1347T>A (p.Pro449=)
2g.168944654G>ACA349126252ABCB11c.878C>T (p.Pro293Leu)
c.2561C>T (p.Pro854Leu)
c.1250C>T (n.1250C>T)
c.2603C>T (p.Pro868Leu)
c.2663C>T (p.Pro888Leu)
c.887C>T (p.Pro296Leu)
c.1892C>T (p.Pro631Leu)
c.1346C>T (p.Pro449Leu)
2g.168944654G>CCA349126247ABCB11c.878C>G (p.Pro293Arg)
c.2561C>G (p.Pro854Arg)
c.1250C>G (n.1250C>G)
c.2603C>G (p.Pro868Arg)
c.2663C>G (p.Pro888Arg)
c.887C>G (p.Pro296Arg)
c.1892C>G (p.Pro631Arg)
c.1346C>G (p.Pro449Arg)
2g.168944654G>TCA349126245ABCB11c.878C>A (p.Pro293His)
c.2561C>A (p.Pro854His)
c.1250C>A (n.1250C>A)
c.2603C>A (p.Pro868His)
c.2663C>A (p.Pro888His)
c.887C>A (p.Pro296His)
c.1892C>A (p.Pro631His)
c.1346C>A (p.Pro449His)
2g.168944656delCA2573133644ABCB11c.878del (p.Pro293LeufsTer4)
c.2561del (p.Pro854LeufsTer4)
c.1250del (n.1250del)
c.2603del (p.Pro868LeufsTer4)
c.2663del (p.Pro888LeufsTer4)
c.887del (p.Pro296LeufsTer4)
c.1892del (p.Pro631LeufsTer4)
c.1346del (p.Pro449LeufsTer4)
 ClinVar dbSNP
2g.168944655G>ACA349126254ABCB11c.877C>T (p.Pro293Ser)
c.2560C>T (p.Pro854Ser)
c.1249C>T (n.1249C>T)
c.2602C>T (p.Pro868Ser)
c.2662C>T (p.Pro888Ser)
c.886C>T (p.Pro296Ser)
c.1891C>T (p.Pro631Ser)
c.1345C>T (p.Pro449Ser)
2g.168944655G>CCA349126257ABCB11c.877C>G (p.Pro293Ala)
c.2560C>G (p.Pro854Ala)
c.1249C>G (n.1249C>G)
c.2602C>G (p.Pro868Ala)
c.2662C>G (p.Pro888Ala)
c.886C>G (p.Pro296Ala)
c.1891C>G (p.Pro631Ala)
c.1345C>G (p.Pro449Ala)
 gnomAD v4
2g.168944655G>TCA349126255ABCB11c.877C>A (p.Pro293Thr)
c.2560C>A (p.Pro854Thr)
c.1249C>A (n.1249C>A)
c.2602C>A (p.Pro868Thr)
c.2662C>A (p.Pro888Thr)
c.886C>A (p.Pro296Thr)
c.1891C>A (p.Pro631Thr)
c.1345C>A (p.Pro449Thr)
2g.168944656G>ACA429985227ABCB11c.876C>T (p.Ser292=)
c.2559C>T (p.Ser853=)
c.1248C>T (n.1248C>T)
c.2601C>T (p.Ser867=)
c.2661C>T (p.Ser887=)
c.885C>T (p.Ser295=)
c.1890C>T (p.Ser630=)
c.1344C>T (p.Ser448=)
2g.168944656G>CCA349126261ABCB11c.876C>G (p.Ser292Arg)
c.2559C>G (p.Ser853Arg)
c.1248C>G (n.1248C>G)
c.2601C>G (p.Ser867Arg)
c.2661C>G (p.Ser887Arg)
c.885C>G (p.Ser295Arg)
c.1890C>G (p.Ser630Arg)
c.1344C>G (p.Ser448Arg)
2g.168944656G=CA1306213489ABCB11c.876C= (p.Ser292=)
c.2559C= (p.Ser853=)
c.1248C= (n.1248C=)
c.2601C= (p.Ser867=)
c.2661C= (p.Ser887=)
c.885C= (p.Ser295=)
c.1890C= (p.Ser630=)
c.1344C= (p.Ser448=)
2g.168944656G>TCA1951253ABCB11c.876C>A (p.Ser292Arg)
c.2559C>A (p.Ser853Arg)
c.1248C>A (n.1248C>A)
c.2601C>A (p.Ser867Arg)
c.2661C>A (p.Ser887Arg)
c.885C>A (p.Ser295Arg)
c.1890C>A (p.Ser630Arg)
c.1344C>A (p.Ser448Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168944657C>ACA349126265ABCB11c.875G>T (p.Ser292Ile)
c.2558G>T (p.Ser853Ile)
c.1247G>T (n.1247G>T)
c.2600G>T (p.Ser867Ile)
c.2660G>T (p.Ser887Ile)
c.884G>T (p.Ser295Ile)
c.1889G>T (p.Ser630Ile)
c.1343G>T (p.Ser448Ile)
 dbSNP gnomAD v4
2g.168944657C=CA1306213490ABCB11c.875G= (p.Ser292=)
c.2558G= (p.Ser853=)
c.1247G= (n.1247G=)
c.2600G= (p.Ser867=)
c.2660G= (p.Ser887=)
c.884G= (p.Ser295=)
c.1889G= (p.Ser630=)
c.1343G= (p.Ser448=)
2g.168944657C>GCA349126271ABCB11c.875G>C (p.Ser292Thr)
c.2558G>C (p.Ser853Thr)
c.1247G>C (n.1247G>C)
c.2600G>C (p.Ser867Thr)
c.2660G>C (p.Ser887Thr)
c.884G>C (p.Ser295Thr)
c.1889G>C (p.Ser630Thr)
c.1343G>C (p.Ser448Thr)
2g.168944657C>TCA349126267ABCB11c.875G>A (p.Ser292Asn)
c.2558G>A (p.Ser853Asn)
c.1247G>A (n.1247G>A)
c.2600G>A (p.Ser867Asn)
c.2660G>A (p.Ser887Asn)
c.884G>A (p.Ser295Asn)
c.1889G>A (p.Ser630Asn)
c.1343G>A (p.Ser448Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.168944657_168944684delinsCTATTTCTGAGGTCATCAAACCAGGCAACA1306213491ABCB11c.848_875delinsTTGCCTGGTTTGATGACCTCAGAAATAG (p.Ile283=)
c.2531_2558delinsTTGCCTGGTTTGATGACCTCAGAAATAG (p.Ile844=)
c.1220_1247delinsTTGCCTGGTTTGATGACCTCAGAAATAG (n.1220_1247delinsTTGCCTGGTTTGATGACCTCAGAAATAG)
c.2573_2600delinsTTGCCTGGTTTGATGACCTCAGAAATAG (p.Ile858=)
c.2633_2660delinsTTGCCTGGTTTGATGACCTCAGAAATAG (p.Ile878=)
c.857_884delinsTTGCCTGGTTTGATGACCTCAGAAATAG (p.Ile286=)
c.1862_1889delinsTTGCCTGGTTTGATGACCTCAGAAATAG (p.Ile621=)
c.1316_1343delinsTTGCCTGGTTTGATGACCTCAGAAATAG (p.Ile439=)
2g.168944658T>ACA349126274ABCB11c.874A>T (p.Ser292Cys)
c.2557A>T (p.Ser853Cys)
c.1246A>T (n.1246A>T)
c.2599A>T (p.Ser867Cys)
c.2659A>T (p.Ser887Cys)
c.883A>T (p.Ser295Cys)
c.1888A>T (p.Ser630Cys)
c.1342A>T (p.Ser448Cys)
2g.168944658T>CCA349126278ABCB11c.874A>G (p.Ser292Gly)
c.2557A>G (p.Ser853Gly)
c.1246A>G (n.1246A>G)
c.2599A>G (p.Ser867Gly)
c.2659A>G (p.Ser887Gly)
c.883A>G (p.Ser295Gly)
c.1888A>G (p.Ser630Gly)
c.1342A>G (p.Ser448Gly)
2g.168944658T>GCA349126276ABCB11c.874A>C (p.Ser292Arg)
c.2557A>C (p.Ser853Arg)
c.1246A>C (n.1246A>C)
c.2599A>C (p.Ser867Arg)
c.2659A>C (p.Ser887Arg)
c.883A>C (p.Ser295Arg)
c.1888A>C (p.Ser630Arg)
c.1342A>C (p.Ser448Arg)
2g.168944661_168944687delCA760457856ABCB11c.848_874del (p.Ile283_Asn291del)
c.2531_2557del (p.Ile844_Asn852del)
c.1220_1246del (n.1220_1246del)
c.2573_2599del (p.Ile858_Asn866del)
c.2633_2659del (p.Ile878_Asn886del)
c.857_883del (p.Ile286_Asn294del)
c.1862_1888del (p.Ile621_Asn629del)
c.1316_1342del (p.Ile439_Asn447del)
 dbSNP gnomAD v4
2g.168944659A>CCA349126281ABCB11c.873T>G (p.Asn291Lys)
c.2556T>G (p.Asn852Lys)
c.1245T>G (n.1245T>G)
c.2598T>G (p.Asn866Lys)
c.2658T>G (p.Asn886Lys)
c.882T>G (p.Asn294Lys)
c.1887T>G (p.Asn629Lys)
c.1341T>G (p.Asn447Lys)
2g.168944659A>GCA429985228ABCB11c.873T>C (p.Asn291=)
c.2556T>C (p.Asn852=)
c.1245T>C (n.1245T>C)
c.2598T>C (p.Asn866=)
c.2658T>C (p.Asn886=)
c.882T>C (p.Asn294=)
c.1887T>C (p.Asn629=)
c.1341T>C (p.Asn447=)
2g.168944659A>TCA349126285ABCB11c.873T>A (p.Asn291Lys)
c.2556T>A (p.Asn852Lys)
c.1245T>A (n.1245T>A)
c.2598T>A (p.Asn866Lys)
c.2658T>A (p.Asn886Lys)
c.882T>A (p.Asn294Lys)
c.1887T>A (p.Asn629Lys)
c.1341T>A (p.Asn447Lys)
2g.168944660T>ACA349126292ABCB11c.872A>T (p.Asn291Ile)
c.2555A>T (p.Asn852Ile)
c.1244A>T (n.1244A>T)
c.2597A>T (p.Asn866Ile)
c.2657A>T (p.Asn886Ile)
c.881A>T (p.Asn294Ile)
c.1886A>T (p.Asn629Ile)
c.1340A>T (p.Asn447Ile)
2g.168944660T>CCA349126294ABCB11c.872A>G (p.Asn291Ser)
c.2555A>G (p.Asn852Ser)
c.1244A>G (n.1244A>G)
c.2597A>G (p.Asn866Ser)
c.2657A>G (p.Asn886Ser)
c.881A>G (p.Asn294Ser)
c.1886A>G (p.Asn629Ser)
c.1340A>G (p.Asn447Ser)
 dbSNP gnomAD v4
2g.168944660T>GCA349126293ABCB11c.872A>C (p.Asn291Thr)
c.2555A>C (p.Asn852Thr)
c.1244A>C (n.1244A>C)
c.2597A>C (p.Asn866Thr)
c.2657A>C (p.Asn886Thr)
c.881A>C (p.Asn294Thr)
c.1886A>C (p.Asn629Thr)
c.1340A>C (p.Asn447Thr)
 dbSNP
2g.168944660T=CA1306213492ABCB11c.872A= (p.Asn291=)
c.2555A= (p.Asn852=)
c.1244A= (n.1244A=)
c.2597A= (p.Asn866=)
c.2657A= (p.Asn886=)
c.881A= (p.Asn294=)
c.1886A= (p.Asn629=)
c.1340A= (p.Asn447=)
2g.168944661T>ACA349126295ABCB11c.871A>T (p.Asn291Tyr)
c.2554A>T (p.Asn852Tyr)
c.1243A>T (n.1243A>T)
c.2596A>T (p.Asn866Tyr)
c.2656A>T (p.Asn886Tyr)
c.880A>T (p.Asn294Tyr)
c.1885A>T (p.Asn629Tyr)
c.1339A>T (p.Asn447Tyr)
2g.168944661T>CCA349126297ABCB11c.871A>G (p.Asn291Asp)
c.2554A>G (p.Asn852Asp)
c.1243A>G (n.1243A>G)
c.2596A>G (p.Asn866Asp)
c.2656A>G (p.Asn886Asp)
c.880A>G (p.Asn294Asp)
c.1885A>G (p.Asn629Asp)
c.1339A>G (p.Asn447Asp)
2g.168944661T>GCA349126296ABCB11c.871A>C (p.Asn291His)
c.2554A>C (p.Asn852His)
c.1243A>C (n.1243A>C)
c.2596A>C (p.Asn866His)
c.2656A>C (p.Asn886His)
c.880A>C (p.Asn294His)
c.1885A>C (p.Asn629His)
c.1339A>C (p.Asn447His)
2g.168944662T>ACA349126299ABCB11c.870A>T (p.Arg290Ser)
c.2553A>T (p.Arg851Ser)
c.1242A>T (n.1242A>T)
c.2595A>T (p.Arg865Ser)
c.2655A>T (p.Arg885Ser)
c.879A>T (p.Arg293Ser)
c.1884A>T (p.Arg628Ser)
c.1338A>T (p.Arg446Ser)
2g.168944662T>CCA429985233ABCB11c.870A>G (p.Arg290=)
c.2553A>G (p.Arg851=)
c.1242A>G (n.1242A>G)
c.2595A>G (p.Arg865=)
c.2655A>G (p.Arg885=)
c.879A>G (p.Arg293=)
c.1884A>G (p.Arg628=)
c.1338A>G (p.Arg446=)
2g.168944662T>GCA349126302ABCB11c.870A>C (p.Arg290Ser)
c.2553A>C (p.Arg851Ser)
c.1242A>C (n.1242A>C)
c.2595A>C (p.Arg865Ser)
c.2655A>C (p.Arg885Ser)
c.879A>C (p.Arg293Ser)
c.1884A>C (p.Arg628Ser)
c.1338A>C (p.Arg446Ser)
 dbSNP
2g.168944662T=CA1306213493ABCB11c.870A= (p.Arg290=)
c.2553A= (p.Arg851=)
c.1242A= (n.1242A=)
c.2595A= (p.Arg865=)
c.2655A= (p.Arg885=)
c.879A= (p.Arg293=)
c.1884A= (p.Arg628=)
c.1338A= (p.Arg446=)
2g.168944663C>ACA349126304ABCB11c.869G>T (p.Arg290Ile)
c.2552G>T (p.Arg851Ile)
c.1241G>T (n.1241G>T)
c.2594G>T (p.Arg865Ile)
c.2654G>T (p.Arg885Ile)
c.878G>T (p.Arg293Ile)
c.1883G>T (p.Arg628Ile)
c.1337G>T (p.Arg446Ile)
2g.168944663C=CA1306213494ABCB11c.869G= (p.Arg290=)
c.2552G= (p.Arg851=)
c.1241G= (n.1241G=)
c.2594G= (p.Arg865=)
c.2654G= (p.Arg885=)
c.878G= (p.Arg293=)
c.1883G= (p.Arg628=)
c.1337G= (p.Arg446=)
2g.168944663C>GCA349126305ABCB11c.869G>C (p.Arg290Thr)
c.2552G>C (p.Arg851Thr)
c.1241G>C (n.1241G>C)
c.2594G>C (p.Arg865Thr)
c.2654G>C (p.Arg885Thr)
c.878G>C (p.Arg293Thr)
c.1883G>C (p.Arg628Thr)
c.1337G>C (p.Arg446Thr)
2g.168944663C>TCA349126307ABCB11c.869G>A (p.Arg290Lys)
c.2552G>A (p.Arg851Lys)
c.1241G>A (n.1241G>A)
c.2594G>A (p.Arg865Lys)
c.2654G>A (p.Arg885Lys)
c.878G>A (p.Arg293Lys)
c.1883G>A (p.Arg628Lys)
c.1337G>A (p.Arg446Lys)
 dbSNP gnomAD v2
2g.168944664T>ACA349126309ABCB11c.868A>T (p.Arg290Ter)
c.2551A>T (p.Arg851Ter)
c.1240A>T (n.1240A>T)
c.2593A>T (p.Arg865Ter)
c.2653A>T (p.Arg885Ter)
c.877A>T (p.Arg293Ter)
c.1882A>T (p.Arg628Ter)
c.1336A>T (p.Arg446Ter)
2g.168944664T>CCA349126311ABCB11c.868A>G (p.Arg290Gly)
c.2551A>G (p.Arg851Gly)
c.1240A>G (n.1240A>G)
c.2593A>G (p.Arg865Gly)
c.2653A>G (p.Arg885Gly)
c.877A>G (p.Arg293Gly)
c.1882A>G (p.Arg628Gly)
c.1336A>G (p.Arg446Gly)
 gnomAD v4
2g.168944664T>GCA429985237ABCB11c.868A>C (p.Arg290=)
c.2551A>C (p.Arg851=)
c.1240A>C (n.1240A>C)
c.2593A>C (p.Arg865=)
c.2653A>C (p.Arg885=)
c.877A>C (p.Arg293=)
c.1882A>C (p.Arg628=)
c.1336A>C (p.Arg446=)
2g.168944664T=CA1306213495ABCB11c.868A= (p.Arg290=)
c.2551A= (p.Arg851=)
c.1240A= (n.1240A=)
c.2593A= (p.Arg865=)
c.2653A= (p.Arg885=)
c.877A= (p.Arg293=)
c.1882A= (p.Arg628=)
c.1336A= (p.Arg446=)
2g.168944665G>ACA429985238ABCB11c.867C>T (p.Leu289=)
c.2550C>T (p.Leu850=)
c.1239C>T (n.1239C>T)
c.2592C>T (p.Leu864=)
c.2652C>T (p.Leu884=)
c.876C>T (p.Leu292=)
c.1881C>T (p.Leu627=)
c.1335C>T (p.Leu445=)
 COSMIC COSMIC
2g.168944665G>CCA429985239ABCB11c.867C>G (p.Leu289=)
c.2550C>G (p.Leu850=)
c.1239C>G (n.1239C>G)
c.2592C>G (p.Leu864=)
c.2652C>G (p.Leu884=)
c.876C>G (p.Leu292=)
c.1881C>G (p.Leu627=)
c.1335C>G (p.Leu445=)
 ClinVar
2g.168944665G>TCA429985240ABCB11c.867C>A (p.Leu289=)
c.2550C>A (p.Leu850=)
c.1239C>A (n.1239C>A)
c.2592C>A (p.Leu864=)
c.2652C>A (p.Leu884=)
c.876C>A (p.Leu292=)
c.1881C>A (p.Leu627=)
c.1335C>A (p.Leu445=)
2g.168944666_168944668dupCA537971274ABCB11c.865_867dup (p.Leu289_Arg290insLeu)
c.2548_2550dup (p.Leu850_Arg851insLeu)
c.1237_1239dup (n.1237_1239dup)
c.2590_2592dup (p.Leu864_Arg865insLeu)
c.2650_2652dup (p.Leu884_Arg885insLeu)
c.874_876dup (p.Leu292_Arg293insLeu)
c.1879_1881dup (p.Leu627_Arg628insLeu)
c.1333_1335dup (p.Leu445_Arg446insLeu)
 dbSNP gnomAD v2 gnomAD v4
2g.168944666A>CCA349126313ABCB11c.866T>G (p.Leu289Arg)
c.2549T>G (p.Leu850Arg)
c.1238T>G (n.1238T>G)
c.2591T>G (p.Leu864Arg)
c.2651T>G (p.Leu884Arg)
c.875T>G (p.Leu292Arg)
c.1880T>G (p.Leu627Arg)
c.1334T>G (p.Leu445Arg)
2g.168944666A>GCA349126315ABCB11c.866T>C (p.Leu289Pro)
c.2549T>C (p.Leu850Pro)
c.1238T>C (n.1238T>C)
c.2591T>C (p.Leu864Pro)
c.2651T>C (p.Leu884Pro)
c.875T>C (p.Leu292Pro)
c.1880T>C (p.Leu627Pro)
c.1334T>C (p.Leu445Pro)
2g.168944666A>TCA349126319ABCB11c.866T>A (p.Leu289His)
c.2549T>A (p.Leu850His)
c.1238T>A (n.1238T>A)
c.2591T>A (p.Leu864His)
c.2651T>A (p.Leu884His)
c.875T>A (p.Leu292His)
c.1880T>A (p.Leu627His)
c.1334T>A (p.Leu445His)
2g.168944667G>ACA349126321ABCB11c.865C>T (p.Leu289Phe)
c.2548C>T (p.Leu850Phe)
c.1237C>T (n.1237C>T)
c.2590C>T (p.Leu864Phe)
c.2650C>T (p.Leu884Phe)
c.874C>T (p.Leu292Phe)
c.1879C>T (p.Leu627Phe)
c.1333C>T (p.Leu445Phe)
2g.168944667G>CCA349126322ABCB11c.865C>G (p.Leu289Val)
c.2548C>G (p.Leu850Val)
c.1237C>G (n.1237C>G)
c.2590C>G (p.Leu864Val)
c.2650C>G (p.Leu884Val)
c.874C>G (p.Leu292Val)
c.1879C>G (p.Leu627Val)
c.1333C>G (p.Leu445Val)
 gnomAD v4
2g.168944667G>TCA349126325ABCB11c.865C>A (p.Leu289Ile)
c.2548C>A (p.Leu850Ile)
c.1237C>A (n.1237C>A)
c.2590C>A (p.Leu864Ile)
c.2650C>A (p.Leu884Ile)
c.874C>A (p.Leu292Ile)
c.1879C>A (p.Leu627Ile)
c.1333C>A (p.Leu445Ile)
2g.168944668G>ACA429985244ABCB11c.864C>T (p.Asp288=)
c.2547C>T (p.Asp849=)
c.1236C>T (n.1236C>T)
c.2589C>T (p.Asp863=)
c.2649C>T (p.Asp883=)
c.873C>T (p.Asp291=)
c.1878C>T (p.Asp626=)
c.1332C>T (p.Asp444=)
 ClinVar COSMIC COSMIC
2g.168944668G>CCA349126330ABCB11c.864C>G (p.Asp288Glu)
c.2547C>G (p.Asp849Glu)
c.1236C>G (n.1236C>G)
c.2589C>G (p.Asp863Glu)
c.2649C>G (p.Asp883Glu)
c.873C>G (p.Asp291Glu)
c.1878C>G (p.Asp626Glu)
c.1332C>G (p.Asp444Glu)
2g.168944668G>TCA349126327ABCB11c.864C>A (p.Asp288Glu)
c.2547C>A (p.Asp849Glu)
c.1236C>A (n.1236C>A)
c.2589C>A (p.Asp863Glu)
c.2649C>A (p.Asp883Glu)
c.873C>A (p.Asp291Glu)
c.1878C>A (p.Asp626Glu)
c.1332C>A (p.Asp444Glu)
2g.168944669T>ACA349126335ABCB11c.863A>T (p.Asp288Val)
c.2546A>T (p.Asp849Val)
c.1235A>T (n.1235A>T)
c.2588A>T (p.Asp863Val)
c.2648A>T (p.Asp883Val)
c.872A>T (p.Asp291Val)
c.1877A>T (p.Asp626Val)
c.1331A>T (p.Asp444Val)
2g.168944669T>CCA349126337ABCB11c.863A>G (p.Asp288Gly)
c.2546A>G (p.Asp849Gly)
c.1235A>G (n.1235A>G)
c.2588A>G (p.Asp863Gly)
c.2648A>G (p.Asp883Gly)
c.872A>G (p.Asp291Gly)
c.1877A>G (p.Asp626Gly)
c.1331A>G (p.Asp444Gly)
2g.168944669T>GCA349126339ABCB11c.863A>C (p.Asp288Ala)
c.2546A>C (p.Asp849Ala)
c.1235A>C (n.1235A>C)
c.2588A>C (p.Asp863Ala)
c.2648A>C (p.Asp883Ala)
c.872A>C (p.Asp291Ala)
c.1877A>C (p.Asp626Ala)
c.1331A>C (p.Asp444Ala)
2g.168944670C>ACA349126342ABCB11c.862G>T (p.Asp288Tyr)
c.2545G>T (p.Asp849Tyr)
c.1234G>T (n.1234G>T)
c.2587G>T (p.Asp863Tyr)
c.2647G>T (p.Asp883Tyr)
c.871G>T (p.Asp291Tyr)
c.1876G>T (p.Asp626Tyr)
c.1330G>T (p.Asp444Tyr)
2g.168944670C>GCA349126344ABCB11c.862G>C (p.Asp288His)
c.2545G>C (p.Asp849His)
c.1234G>C (n.1234G>C)
c.2587G>C (p.Asp863His)
c.2647G>C (p.Asp883His)
c.871G>C (p.Asp291His)
c.1876G>C (p.Asp626His)
c.1330G>C (p.Asp444His)
2g.168944670C>TCA349126346ABCB11c.862G>A (p.Asp288Asn)
c.2545G>A (p.Asp849Asn)
c.1234G>A (n.1234G>A)
c.2587G>A (p.Asp863Asn)
c.2647G>A (p.Asp883Asn)
c.871G>A (p.Asp291Asn)
c.1876G>A (p.Asp626Asn)
c.1330G>A (p.Asp444Asn)
2g.168944671A>CCA349126357ABCB11c.861T>G (p.Asp287Glu)
c.2544T>G (p.Asp848Glu)
c.1233T>G (n.1233T>G)
c.2586T>G (p.Asp862Glu)
c.2646T>G (p.Asp882Glu)
c.870T>G (p.Asp290Glu)
c.1875T>G (p.Asp625Glu)
c.1329T>G (p.Asp443Glu)
2g.168944671A>GCA429985246ABCB11c.861T>C (p.Asp287=)
c.2544T>C (p.Asp848=)
c.1233T>C (n.1233T>C)
c.2586T>C (p.Asp862=)
c.2646T>C (p.Asp882=)
c.870T>C (p.Asp290=)
c.1875T>C (p.Asp625=)
c.1329T>C (p.Asp443=)
2g.168944671A>TCA349126358ABCB11c.861T>A (p.Asp287Glu)
c.2544T>A (p.Asp848Glu)
c.1233T>A (n.1233T>A)
c.2586T>A (p.Asp862Glu)
c.2646T>A (p.Asp882Glu)
c.870T>A (p.Asp290Glu)
c.1875T>A (p.Asp625Glu)
c.1329T>A (p.Asp443Glu)
2g.168944672T>ACA349126363ABCB11c.860A>T (p.Asp287Val)
c.2543A>T (p.Asp848Val)
c.1232A>T (n.1232A>T)
c.2585A>T (p.Asp862Val)
c.2645A>T (p.Asp882Val)
c.869A>T (p.Asp290Val)
c.1874A>T (p.Asp625Val)
c.1328A>T (p.Asp443Val)
 gnomAD v4 COSMIC
2g.168944672T>CCA349126366ABCB11c.860A>G (p.Asp287Gly)
c.2543A>G (p.Asp848Gly)
c.1232A>G (n.1232A>G)
c.2585A>G (p.Asp862Gly)
c.2645A>G (p.Asp882Gly)
c.869A>G (p.Asp290Gly)
c.1874A>G (p.Asp625Gly)
c.1328A>G (p.Asp443Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.168944672T>GCA349126369ABCB11c.860A>C (p.Asp287Ala)
c.2543A>C (p.Asp848Ala)
c.1232A>C (n.1232A>C)
c.2585A>C (p.Asp862Ala)
c.2645A>C (p.Asp882Ala)
c.869A>C (p.Asp290Ala)
c.1874A>C (p.Asp625Ala)
c.1328A>C (p.Asp443Ala)
2g.168944672T=CA1306213496ABCB11c.860A= (p.Asp287=)
c.2543A= (p.Asp848=)
c.1232A= (n.1232A=)
c.2585A= (p.Asp862=)
c.2645A= (p.Asp882=)
c.869A= (p.Asp290=)
c.1874A= (p.Asp625=)
c.1328A= (p.Asp443=)
2g.168944672_168944673delinsTCCA1306213497ABCB11c.859_860delinsGA (p.Asp287=)
c.2542_2543delinsGA (p.Asp848=)
c.1231_1232delinsGA (n.1231_1232delinsGA)
c.2584_2585delinsGA (p.Asp862=)
c.2644_2645delinsGA (p.Asp882=)
c.868_869delinsGA (p.Asp290=)
c.1873_1874delinsGA (p.Asp625=)
c.1327_1328delinsGA (p.Asp443=)
2g.168944673delCA1306213500ABCB11c.859del (p.Asp287MetfsTer10)
c.2542del (p.Asp848MetfsTer10)
c.1231del (n.1231del)
c.2584del (p.Asp862MetfsTer10)
c.2644del (p.Asp882MetfsTer10)
c.868del (p.Asp290MetfsTer10)
c.1873del (p.Asp625MetfsTer10)
c.1327del (p.Asp443MetfsTer10)
 ClinVar dbSNP gnomAD v4
2g.168944673C>ACA349126374ABCB11c.859G>T (p.Asp287Tyr)
c.2542G>T (p.Asp848Tyr)
c.1231G>T (n.1231G>T)
c.2584G>T (p.Asp862Tyr)
c.2644G>T (p.Asp882Tyr)
c.868G>T (p.Asp290Tyr)
c.1873G>T (p.Asp625Tyr)
c.1327G>T (p.Asp443Tyr)
 gnomAD v4
2g.168944673C=CA1306213499ABCB11c.859G= (p.Asp287=)
c.2542G= (p.Asp848=)
c.1231G= (n.1231G=)
c.2584G= (p.Asp862=)
c.2644G= (p.Asp882=)
c.868G= (p.Asp290=)
c.1873G= (p.Asp625=)
c.1327G= (p.Asp443=)
2g.168944673C>GCA349126377ABCB11c.859G>C (p.Asp287His)
c.2542G>C (p.Asp848His)
c.1231G>C (n.1231G>C)
c.2584G>C (p.Asp862His)
c.2644G>C (p.Asp882His)
c.868G>C (p.Asp290His)
c.1873G>C (p.Asp625His)
c.1327G>C (p.Asp443His)
 dbSNP gnomAD v2 gnomAD v4
2g.168944673C>TCA349126372ABCB11c.859G>A (p.Asp287Asn)
c.2542G>A (p.Asp848Asn)
c.1231G>A (n.1231G>A)
c.2584G>A (p.Asp862Asn)
c.2644G>A (p.Asp882Asn)
c.868G>A (p.Asp290Asn)
c.1873G>A (p.Asp625Asn)
c.1327G>A (p.Asp443Asn)
2g.168944673_168944674delinsCACA1306213498ABCB11c.858_859delinsTG (p.Phe286=)
c.2541_2542delinsTG (p.Phe847=)
c.1230_1231delinsTG (n.1230_1231delinsTG)
c.2583_2584delinsTG (p.Phe861=)
c.2643_2644delinsTG (p.Phe881=)
c.867_868delinsTG (p.Phe289=)
c.1872_1873delinsTG (p.Phe624=)
c.1326_1327delinsTG (p.Phe442=)
2g.168944674A>CCA349126382ABCB11c.858T>G (p.Phe286Leu)
c.2541T>G (p.Phe847Leu)
c.1230T>G (n.1230T>G)
c.2583T>G (p.Phe861Leu)
c.2643T>G (p.Phe881Leu)
c.867T>G (p.Phe289Leu)
c.1872T>G (p.Phe624Leu)
c.1326T>G (p.Phe442Leu)
 gnomAD v4
2g.168944674A>GCA429985248ABCB11c.858T>C (p.Phe286=)
c.2541T>C (p.Phe847=)
c.1230T>C (n.1230T>C)
c.2583T>C (p.Phe861=)
c.2643T>C (p.Phe881=)
c.867T>C (p.Phe289=)
c.1872T>C (p.Phe624=)
c.1326T>C (p.Phe442=)
2g.168944674A>TCA349126386ABCB11c.858T>A (p.Phe286Leu)
c.2541T>A (p.Phe847Leu)
c.1230T>A (n.1230T>A)
c.2583T>A (p.Phe861Leu)
c.2643T>A (p.Phe881Leu)
c.867T>A (p.Phe289Leu)
c.1872T>A (p.Phe624Leu)
c.1326T>A (p.Phe442Leu)
2g.168944676delCA915942945ABCB11c.858del (p.Phe286LeufsTer11)
c.2541del (p.Phe847LeufsTer11)
c.1230del (n.1230del)
c.2583del (p.Phe861LeufsTer11)
c.2643del (p.Phe881LeufsTer11)
c.867del (p.Phe289LeufsTer11)
c.1872del (p.Phe624LeufsTer11)
c.1326del (p.Phe442LeufsTer11)
 ClinVar dbSNP
2g.168944675A>CCA349126387ABCB11c.857T>G (p.Phe286Cys)
c.2540T>G (p.Phe847Cys)
c.1229T>G (n.1229T>G)
c.2582T>G (p.Phe861Cys)
c.2642T>G (p.Phe881Cys)
c.866T>G (p.Phe289Cys)
c.1871T>G (p.Phe624Cys)
c.1325T>G (p.Phe442Cys)
2g.168944675A>GCA349126388ABCB11c.857T>C (p.Phe286Ser)
c.2540T>C (p.Phe847Ser)
c.1229T>C (n.1229T>C)
c.2582T>C (p.Phe861Ser)
c.2642T>C (p.Phe881Ser)
c.866T>C (p.Phe289Ser)
c.1871T>C (p.Phe624Ser)
c.1325T>C (p.Phe442Ser)
2g.168944675A>TCA349126389ABCB11c.857T>A (p.Phe286Tyr)
c.2540T>A (p.Phe847Tyr)
c.1229T>A (n.1229T>A)
c.2582T>A (p.Phe861Tyr)
c.2642T>A (p.Phe881Tyr)
c.866T>A (p.Phe289Tyr)
c.1871T>A (p.Phe624Tyr)
c.1325T>A (p.Phe442Tyr)
2g.168944676A>CCA349126393ABCB11c.856T>G (p.Phe286Val)
c.2539T>G (p.Phe847Val)
c.1228T>G (n.1228T>G)
c.2581T>G (p.Phe861Val)
c.2641T>G (p.Phe881Val)
c.865T>G (p.Phe289Val)
c.1870T>G (p.Phe624Val)
c.1324T>G (p.Phe442Val)
2g.168944676A>GCA349126395ABCB11c.856T>C (p.Phe286Leu)
c.2539T>C (p.Phe847Leu)
c.1228T>C (n.1228T>C)
c.2581T>C (p.Phe861Leu)
c.2641T>C (p.Phe881Leu)
c.865T>C (p.Phe289Leu)
c.1870T>C (p.Phe624Leu)
c.1324T>C (p.Phe442Leu)
2g.168944676A>TCA349126396ABCB11c.856T>A (p.Phe286Ile)
c.2539T>A (p.Phe847Ile)
c.1228T>A (n.1228T>A)
c.2581T>A (p.Phe861Ile)
c.2641T>A (p.Phe881Ile)
c.865T>A (p.Phe289Ile)
c.1870T>A (p.Phe624Ile)
c.1324T>A (p.Phe442Ile)
2g.168944677C>ACA349126400ABCB11c.855G>T (p.Trp285Cys)
c.2538G>T (p.Trp846Cys)
c.1227G>T (n.1227G>T)
c.2580G>T (p.Trp860Cys)
c.2640G>T (p.Trp880Cys)
c.864G>T (p.Trp288Cys)
c.1869G>T (p.Trp623Cys)
c.1323G>T (p.Trp441Cys)
 ClinVar dbSNP
2g.168944677C=CA1306213501ABCB11c.855G= (p.Trp285=)
c.2538G= (p.Trp846=)
c.1227G= (n.1227G=)
c.2580G= (p.Trp860=)
c.2640G= (p.Trp880=)
c.864G= (p.Trp288=)
c.1869G= (p.Trp623=)
c.1323G= (p.Trp441=)
2g.168944677C>GCA349126412ABCB11c.855G>C (p.Trp285Cys)
c.2538G>C (p.Trp846Cys)
c.1227G>C (n.1227G>C)
c.2580G>C (p.Trp860Cys)
c.2640G>C (p.Trp880Cys)
c.864G>C (p.Trp288Cys)
c.1869G>C (p.Trp623Cys)
c.1323G>C (p.Trp441Cys)
2g.168944677C>TCA349126415ABCB11c.855G>A (p.Trp285Ter)
c.2538G>A (p.Trp846Ter)
c.1227G>A (n.1227G>A)
c.2580G>A (p.Trp860Ter)
c.2640G>A (p.Trp880Ter)
c.864G>A (p.Trp288Ter)
c.1869G>A (p.Trp623Ter)
c.1323G>A (p.Trp441Ter)
2g.168944678delCA2661805091ABCB11c.855del (p.Trp285CysfsTer12)
c.2538del (p.Trp846CysfsTer12)
c.1227del (n.1227del)
c.2580del (p.Trp860CysfsTer12)
c.2640del (p.Trp880CysfsTer12)
c.864del (p.Trp288CysfsTer12)
c.1869del (p.Trp623CysfsTer12)
c.1323del (p.Trp441CysfsTer12)
 gnomAD v4
2g.168944678C>ACA349126419ABCB11c.854G>T (p.Trp285Leu)
c.2537G>T (p.Trp846Leu)
c.1226G>T (n.1226G>T)
c.2579G>T (p.Trp860Leu)
c.2639G>T (p.Trp880Leu)
c.863G>T (p.Trp288Leu)
c.1868G>T (p.Trp623Leu)
c.1322G>T (p.Trp441Leu)
2g.168944678C>GCA349126418ABCB11c.854G>C (p.Trp285Ser)
c.2537G>C (p.Trp846Ser)
c.1226G>C (n.1226G>C)
c.2579G>C (p.Trp860Ser)
c.2639G>C (p.Trp880Ser)
c.863G>C (p.Trp288Ser)
c.1868G>C (p.Trp623Ser)
c.1322G>C (p.Trp441Ser)
2g.168944678C>TCA349126417ABCB11c.854G>A (p.Trp285Ter)
c.2537G>A (p.Trp846Ter)
c.1226G>A (n.1226G>A)
c.2579G>A (p.Trp860Ter)
c.2639G>A (p.Trp880Ter)
c.863G>A (p.Trp288Ter)
c.1868G>A (p.Trp623Ter)
c.1322G>A (p.Trp441Ter)
2g.168944679A=CA1306213502ABCB11c.853T= (p.Trp285=)
c.2536T= (p.Trp846=)
c.1225T= (n.1225T=)
c.2578T= (p.Trp860=)
c.2638T= (p.Trp880=)
c.862T= (p.Trp288=)
c.1867T= (p.Trp623=)
c.1321T= (p.Trp441=)
2g.168944679A>CCA349126420ABCB11c.853T>G (p.Trp285Gly)
c.2536T>G (p.Trp846Gly)
c.1225T>G (n.1225T>G)
c.2578T>G (p.Trp860Gly)
c.2638T>G (p.Trp880Gly)
c.862T>G (p.Trp288Gly)
c.1867T>G (p.Trp623Gly)
c.1321T>G (p.Trp441Gly)
2g.168944679A>GCA349126422ABCB11c.853T>C (p.Trp285Arg)
c.2536T>C (p.Trp846Arg)
c.1225T>C (n.1225T>C)
c.2578T>C (p.Trp860Arg)
c.2638T>C (p.Trp880Arg)
c.862T>C (p.Trp288Arg)
c.1867T>C (p.Trp623Arg)
c.1321T>C (p.Trp441Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.168944679A>TCA349126423ABCB11c.853T>A (p.Trp285Arg)
c.2536T>A (p.Trp846Arg)
c.1225T>A (n.1225T>A)
c.2578T>A (p.Trp860Arg)
c.2638T>A (p.Trp880Arg)
c.862T>A (p.Trp288Arg)
c.1867T>A (p.Trp623Arg)
c.1321T>A (p.Trp441Arg)
2g.168944680G>ACA429985251ABCB11c.852C>T (p.Ala284=)
c.2535C>T (p.Ala845=)
c.1224C>T (n.1224C>T)
c.2577C>T (p.Ala859=)
c.2637C>T (p.Ala879=)
c.861C>T (p.Ala287=)
c.1866C>T (p.Ala622=)
c.1320C>T (p.Ala440=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168944680G>CCA429985252ABCB11c.852C>G (p.Ala284=)
c.2535C>G (p.Ala845=)
c.1224C>G (n.1224C>G)
c.2577C>G (p.Ala859=)
c.2637C>G (p.Ala879=)
c.861C>G (p.Ala287=)
c.1866C>G (p.Ala622=)
c.1320C>G (p.Ala440=)
2g.168944680G=CA1306213503ABCB11c.852C= (p.Ala284=)
c.2535C= (p.Ala845=)
c.1224C= (n.1224C=)
c.2577C= (p.Ala859=)
c.2637C= (p.Ala879=)
c.861C= (p.Ala287=)
c.1866C= (p.Ala622=)
c.1320C= (p.Ala440=)
2g.168944680G>TCA429985253ABCB11c.852C>A (p.Ala284=)
c.2535C>A (p.Ala845=)
c.1224C>A (n.1224C>A)
c.2577C>A (p.Ala859=)
c.2637C>A (p.Ala879=)
c.861C>A (p.Ala287=)
c.1866C>A (p.Ala622=)
c.1320C>A (p.Ala440=)
2g.168944681G>ACA349126425ABCB11c.851C>T (p.Ala284Val)
c.2534C>T (p.Ala845Val)
c.1223C>T (n.1223C>T)
c.2576C>T (p.Ala859Val)
c.2636C>T (p.Ala879Val)
c.860C>T (p.Ala287Val)
c.1865C>T (p.Ala622Val)
c.1319C>T (p.Ala440Val)
2g.168944681G>CCA349126429ABCB11c.851C>G (p.Ala284Gly)
c.2534C>G (p.Ala845Gly)
c.1223C>G (n.1223C>G)
c.2576C>G (p.Ala859Gly)
c.2636C>G (p.Ala879Gly)
c.860C>G (p.Ala287Gly)
c.1865C>G (p.Ala622Gly)
c.1319C>G (p.Ala440Gly)
2g.168944681G>TCA349126431ABCB11c.851C>A (p.Ala284Asp)
c.2534C>A (p.Ala845Asp)
c.1223C>A (n.1223C>A)
c.2576C>A (p.Ala859Asp)
c.2636C>A (p.Ala879Asp)
c.860C>A (p.Ala287Asp)
c.1865C>A (p.Ala622Asp)
c.1319C>A (p.Ala440Asp)
2g.168944682C>ACA349126434ABCB11c.850G>T (p.Ala284Ser)
c.2533G>T (p.Ala845Ser)
c.1222G>T (n.1222G>T)
c.2575G>T (p.Ala859Ser)
c.2635G>T (p.Ala879Ser)
c.859G>T (p.Ala287Ser)
c.1864G>T (p.Ala622Ser)
c.1318G>T (p.Ala440Ser)
 gnomAD v4
2g.168944682C>GCA349126440ABCB11c.850G>C (p.Ala284Pro)
c.2533G>C (p.Ala845Pro)
c.1222G>C (n.1222G>C)
c.2575G>C (p.Ala859Pro)
c.2635G>C (p.Ala879Pro)
c.859G>C (p.Ala287Pro)
c.1864G>C (p.Ala622Pro)
c.1318G>C (p.Ala440Pro)
2g.168944682C>TCA349126441ABCB11c.850G>A (p.Ala284Thr)
c.2533G>A (p.Ala845Thr)
c.1222G>A (n.1222G>A)
c.2575G>A (p.Ala859Thr)
c.2635G>A (p.Ala879Thr)
c.859G>A (p.Ala287Thr)
c.1864G>A (p.Ala622Thr)
c.1318G>A (p.Ala440Thr)
2g.168944683A>CCA349126443ABCB11c.849T>G (p.Ile283Met)
c.2532T>G (p.Ile844Met)
c.1221T>G (n.1221T>G)
c.2574T>G (p.Ile858Met)
c.2634T>G (p.Ile878Met)
c.858T>G (p.Ile286Met)
c.1863T>G (p.Ile621Met)
c.1317T>G (p.Ile439Met)
2g.168944683A>GCA429985257ABCB11c.849T>C (p.Ile283=)
c.2532T>C (p.Ile844=)
c.1221T>C (n.1221T>C)
c.2574T>C (p.Ile858=)
c.2634T>C (p.Ile878=)
c.858T>C (p.Ile286=)
c.1863T>C (p.Ile621=)
c.1317T>C (p.Ile439=)
2g.168944683A>TCA429985258ABCB11c.849T>A (p.Ile283=)
c.2532T>A (p.Ile844=)
c.1221T>A (n.1221T>A)
c.2574T>A (p.Ile858=)
c.2634T>A (p.Ile878=)
c.858T>A (p.Ile286=)
c.1863T>A (p.Ile621=)
c.1317T>A (p.Ile439=)
2g.168944684A>CCA349126446ABCB11c.848T>G (p.Ile283Ser)
c.2531T>G (p.Ile844Ser)
c.1220T>G (n.1220T>G)
c.2573T>G (p.Ile858Ser)
c.2633T>G (p.Ile878Ser)
c.857T>G (p.Ile286Ser)
c.1862T>G (p.Ile621Ser)
c.1316T>G (p.Ile439Ser)
2g.168944684A>GCA349126449ABCB11c.848T>C (p.Ile283Thr)
c.2531T>C (p.Ile844Thr)
c.1220T>C (n.1220T>C)
c.2573T>C (p.Ile858Thr)
c.2633T>C (p.Ile878Thr)
c.857T>C (p.Ile286Thr)
c.1862T>C (p.Ile621Thr)
c.1316T>C (p.Ile439Thr)
2g.168944684A>TCA349126453ABCB11c.848T>A (p.Ile283Asn)
c.2531T>A (p.Ile844Asn)
c.1220T>A (n.1220T>A)
c.2573T>A (p.Ile858Asn)
c.2633T>A (p.Ile878Asn)
c.857T>A (p.Ile286Asn)
c.1862T>A (p.Ile621Asn)
c.1316T>A (p.Ile439Asn)
2g.168944685T>ACA349126460ABCB11c.847A>T (p.Ile283Phe)
c.2530A>T (p.Ile844Phe)
c.1219A>T (n.1219A>T)
c.2572A>T (p.Ile858Phe)
c.2632A>T (p.Ile878Phe)
c.856A>T (p.Ile286Phe)
c.1861A>T (p.Ile621Phe)
c.1315A>T (p.Ile439Phe)
2g.168944685T>CCA349126462ABCB11c.847A>G (p.Ile283Val)
c.2530A>G (p.Ile844Val)
c.1219A>G (n.1219A>G)
c.2572A>G (p.Ile858Val)
c.2632A>G (p.Ile878Val)
c.856A>G (p.Ile286Val)
c.1861A>G (p.Ile621Val)
c.1315A>G (p.Ile439Val)
2g.168944685T>GCA349126456ABCB11c.847A>C (p.Ile283Leu)
c.2530A>C (p.Ile844Leu)
c.1219A>C (n.1219A>C)
c.2572A>C (p.Ile858Leu)
c.2632A>C (p.Ile878Leu)
c.856A>C (p.Ile286Leu)
c.1861A>C (p.Ile621Leu)
c.1315A>C (p.Ile439Leu)
2g.168944686A>CCA349126465ABCB11c.846T>G (p.Asp282Glu)
c.2529T>G (p.Asp843Glu)
c.1218T>G (n.1218T>G)
c.2571T>G (p.Asp857Glu)
c.2631T>G (p.Asp877Glu)
c.855T>G (p.Asp285Glu)
c.1860T>G (p.Asp620Glu)
c.1314T>G (p.Asp438Glu)
2g.168944686A>GCA429985262ABCB11c.846T>C (p.Asp282=)
c.2529T>C (p.Asp843=)
c.1218T>C (n.1218T>C)
c.2571T>C (p.Asp857=)
c.2631T>C (p.Asp877=)
c.855T>C (p.Asp285=)
c.1860T>C (p.Asp620=)
c.1314T>C (p.Asp438=)
 gnomAD v4
2g.168944686A>TCA349126468ABCB11c.846T>A (p.Asp282Glu)
c.2529T>A (p.Asp843Glu)
c.1218T>A (n.1218T>A)
c.2571T>A (p.Asp857Glu)
c.2631T>A (p.Asp877Glu)
c.855T>A (p.Asp285Glu)
c.1860T>A (p.Asp620Glu)
c.1314T>A (p.Asp438Glu)
2g.168944687T>ACA349126472ABCB11c.845A>T (p.Asp282Val)
c.2528A>T (p.Asp843Val)
c.1217A>T (n.1217A>T)
c.2570A>T (p.Asp857Val)
c.2630A>T (p.Asp877Val)
c.854A>T (p.Asp285Val)
c.1859A>T (p.Asp620Val)
c.1313A>T (p.Asp438Val)
2g.168944687T>CCA349126474ABCB11c.845A>G (p.Asp282Gly)
c.2528A>G (p.Asp843Gly)
c.1217A>G (n.1217A>G)
c.2570A>G (p.Asp857Gly)
c.2630A>G (p.Asp877Gly)
c.854A>G (p.Asp285Gly)
c.1859A>G (p.Asp620Gly)
c.1313A>G (p.Asp438Gly)
 gnomAD v4
2g.168944687T>GCA349126476ABCB11c.845A>C (p.Asp282Ala)
c.2528A>C (p.Asp843Ala)
c.1217A>C (n.1217A>C)
c.2570A>C (p.Asp857Ala)
c.2630A>C (p.Asp877Ala)
c.854A>C (p.Asp285Ala)
c.1859A>C (p.Asp620Ala)
c.1313A>C (p.Asp438Ala)
2g.168944688C>ACA349126485ABCB11c.844G>T (p.Asp282Tyr)
c.2527G>T (p.Asp843Tyr)
c.1216G>T (n.1216G>T)
c.2569G>T (p.Asp857Tyr)
c.2629G>T (p.Asp877Tyr)
c.853G>T (p.Asp285Tyr)
c.1858G>T (p.Asp620Tyr)
c.1312G>T (p.Asp438Tyr)
 COSMIC COSMIC
2g.168944688C=CA1306207168ABCB11c.844G= (p.Asp282=)
c.2527G= (p.Asp843=)
c.1216G= (n.1216G=)
c.2569G= (p.Asp857=)
c.2629G= (p.Asp877=)
c.853G= (p.Asp285=)
c.1858G= (p.Asp620=)
c.1312G= (p.Asp438=)
2g.168944688C>GCA1951254ABCB11c.844G>C (p.Asp282His)
c.2527G>C (p.Asp843His)
c.1216G>C (n.1216G>C)
c.2569G>C (p.Asp857His)
c.2629G>C (p.Asp877His)
c.853G>C (p.Asp285His)
c.1858G>C (p.Asp620His)
c.1312G>C (p.Asp438His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168944688C>TCA349126482ABCB11c.844G>A (p.Asp282Asn)
c.2527G>A (p.Asp843Asn)
c.1216G>A (n.1216G>A)
c.2569G>A (p.Asp857Asn)
c.2629G>A (p.Asp877Asn)
c.853G>A (p.Asp285Asn)
c.1858G>A (p.Asp620Asn)
c.1312G>A (p.Asp438Asn)
2g.168944689T>ACA349126488ABCB11c.843A>T (p.Gln281His)
c.2526A>T (p.Gln842His)
c.1215A>T (n.1215A>T)
c.2568A>T (p.Gln856His)
c.2628A>T (p.Gln876His)
c.852A>T (p.Gln284His)
c.1857A>T (p.Gln619His)
c.1311A>T (p.Gln437His)
2g.168944689T>CCA429985265ABCB11c.843A>G (p.Gln281=)
c.2526A>G (p.Gln842=)
c.1215A>G (n.1215A>G)
c.2568A>G (p.Gln856=)
c.2628A>G (p.Gln876=)
c.852A>G (p.Gln284=)
c.1857A>G (p.Gln619=)
c.1311A>G (p.Gln437=)
2g.168944689T>GCA349126491ABCB11c.843A>C (p.Gln281His)
c.2526A>C (p.Gln842His)
c.1215A>C (n.1215A>C)
c.2568A>C (p.Gln856His)
c.2628A>C (p.Gln876His)
c.852A>C (p.Gln284His)
c.1857A>C (p.Gln619His)
c.1311A>C (p.Gln437His)
2g.168944690T>ACA349126492ABCB11c.842A>T (p.Gln281Leu)
c.2525A>T (p.Gln842Leu)
c.1214A>T (n.1214A>T)
c.2567A>T (p.Gln856Leu)
c.2627A>T (p.Gln876Leu)
c.851A>T (p.Gln284Leu)
c.1856A>T (p.Gln619Leu)
c.1310A>T (p.Gln437Leu)
2g.168944690T>CCA349126494ABCB11c.842A>G (p.Gln281Arg)
c.2525A>G (p.Gln842Arg)
c.1214A>G (n.1214A>G)
c.2567A>G (p.Gln856Arg)
c.2627A>G (p.Gln876Arg)
c.851A>G (p.Gln284Arg)
c.1856A>G (p.Gln619Arg)
c.1310A>G (p.Gln437Arg)
 gnomAD v4
2g.168944690T>GCA349126497ABCB11c.842A>C (p.Gln281Pro)
c.2525A>C (p.Gln842Pro)
c.1214A>C (n.1214A>C)
c.2567A>C (p.Gln856Pro)
c.2627A>C (p.Gln876Pro)
c.851A>C (p.Gln284Pro)
c.1856A>C (p.Gln619Pro)
c.1310A>C (p.Gln437Pro)
2g.168944691G>ACA349126516ABCB11c.841C>T (p.Gln281Ter)
c.2524C>T (p.Gln842Ter)
c.1213C>T (n.1213C>T)
c.2566C>T (p.Gln856Ter)
c.2626C>T (p.Gln876Ter)
c.850C>T (p.Gln284Ter)
c.1855C>T (p.Gln619Ter)
c.1309C>T (p.Gln437Ter)
 gnomAD v4
2g.168944691G>CCA349126501ABCB11c.841C>G (p.Gln281Glu)
c.2524C>G (p.Gln842Glu)
c.1213C>G (n.1213C>G)
c.2566C>G (p.Gln856Glu)
c.2626C>G (p.Gln876Glu)
c.850C>G (p.Gln284Glu)
c.1855C>G (p.Gln619Glu)
c.1309C>G (p.Gln437Glu)
2g.168944691G>TCA349126513ABCB11c.841C>A (p.Gln281Lys)
c.2524C>A (p.Gln842Lys)
c.1213C>A (n.1213C>A)
c.2566C>A (p.Gln856Lys)
c.2626C>A (p.Gln876Lys)
c.850C>A (p.Gln284Lys)
c.1855C>A (p.Gln619Lys)
c.1309C>A (p.Gln437Lys)
 COSMIC
2g.168944692C>ACA429985269ABCB11c.840G>T (p.Gly280=)
c.2523G>T (p.Gly841=)
c.1212G>T (n.1212G>T)
c.2565G>T (p.Gly855=)
c.2625G>T (p.Gly875=)
c.849G>T (p.Gly283=)
c.1854G>T (p.Gly618=)
c.1308G>T (p.Gly436=)
2g.168944692C=CA1306207173ABCB11c.840G= (p.Gly280=)
c.2523G= (p.Gly841=)
c.1212G= (n.1212G=)
c.2565G= (p.Gly855=)
c.2625G= (p.Gly875=)
c.849G= (p.Gly283=)
c.1854G= (p.Gly618=)
c.1308G= (p.Gly436=)
2g.168944692C>GCA429985271ABCB11c.840G>C (p.Gly280=)
c.2523G>C (p.Gly841=)
c.1212G>C (n.1212G>C)
c.2565G>C (p.Gly855=)
c.2625G>C (p.Gly875=)
c.849G>C (p.Gly283=)
c.1854G>C (p.Gly618=)
c.1308G>C (p.Gly436=)
2g.168944692C>TCA1951255ABCB11c.840G>A (p.Gly280=)
c.2523G>A (p.Gly841=)
c.1212G>A (n.1212G>A)
c.2565G>A (p.Gly855=)
c.2625G>A (p.Gly875=)
c.849G>A (p.Gly283=)
c.1854G>A (p.Gly618=)
c.1308G>A (p.Gly436=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168944693C>ACA349126518ABCB11c.839G>T (p.Gly280Val)
c.2522G>T (p.Gly841Val)
c.1211G>T (n.1211G>T)
c.2564G>T (p.Gly855Val)
c.2624G>T (p.Gly875Val)
c.848G>T (p.Gly283Val)
c.1853G>T (p.Gly618Val)
c.1307G>T (p.Gly436Val)
2g.168944693C>GCA349126520ABCB11c.839G>C (p.Gly280Ala)
c.2522G>C (p.Gly841Ala)
c.1211G>C (n.1211G>C)
c.2564G>C (p.Gly855Ala)
c.2624G>C (p.Gly875Ala)
c.848G>C (p.Gly283Ala)
c.1853G>C (p.Gly618Ala)
c.1307G>C (p.Gly436Ala)
2g.168944693C>TCA349126522ABCB11c.839G>A (p.Gly280Glu)
c.2522G>A (p.Gly841Glu)
c.1211G>A (n.1211G>A)
c.2564G>A (p.Gly855Glu)
c.2624G>A (p.Gly875Glu)
c.848G>A (p.Gly283Glu)
c.1853G>A (p.Gly618Glu)
c.1307G>A (p.Gly436Glu)
2g.168944694C>ACA349126524ABCB11c.838G>T (p.Gly280Trp)
c.2521G>T (p.Gly841Trp)
c.1210G>T (n.1210G>T)
c.2563G>T (p.Gly855Trp)
c.2623G>T (p.Gly875Trp)
c.847G>T (p.Gly283Trp)
c.1852G>T (p.Gly618Trp)
c.1306G>T (p.Gly436Trp)
2g.168944694C=CA1306207175ABCB11c.838G= (p.Gly280=)
c.2521G= (p.Gly841=)
c.1210G= (n.1210G=)
c.2563G= (p.Gly855=)
c.2623G= (p.Gly875=)
c.847G= (p.Gly283=)
c.1852G= (p.Gly618=)
c.1306G= (p.Gly436=)
2g.168944694C>GCA349126527ABCB11c.838G>C (p.Gly280Arg)
c.2521G>C (p.Gly841Arg)
c.1210G>C (n.1210G>C)
c.2563G>C (p.Gly855Arg)
c.2623G>C (p.Gly875Arg)
c.847G>C (p.Gly283Arg)
c.1852G>C (p.Gly618Arg)
c.1306G>C (p.Gly436Arg)
 dbSNP
2g.168944694C>TCA1951256ABCB11c.838G>A (p.Gly280Arg)
c.2521G>A (p.Gly841Arg)
c.1210G>A (n.1210G>A)
c.2563G>A (p.Gly855Arg)
c.2623G>A (p.Gly875Arg)
c.847G>A (p.Gly283Arg)
c.1852G>A (p.Gly618Arg)
c.1306G>A (p.Gly436Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.168944695C>ACA1951257ABCB11c.837G>T (p.Leu279=)
c.2520G>T (p.Leu840=)
c.1209G>T (n.1209G>T)
c.2562G>T (p.Leu854=)
c.2622G>T (p.Leu874=)
c.846G>T (p.Leu282=)
c.1851G>T (p.Leu617=)
c.1305G>T (p.Leu435=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168944695C=CA1306207177ABCB11c.837G= (p.Leu279=)
c.2520G= (p.Leu840=)
c.1209G= (n.1209G=)
c.2562G= (p.Leu854=)
c.2622G= (p.Leu874=)
c.846G= (p.Leu282=)
c.1851G= (p.Leu617=)
c.1305G= (p.Leu435=)
2g.168944695C>GCA429985275ABCB11c.837G>C (p.Leu279=)
c.2520G>C (p.Leu840=)
c.1209G>C (n.1209G>C)
c.2562G>C (p.Leu854=)
c.2622G>C (p.Leu874=)
c.846G>C (p.Leu282=)
c.1851G>C (p.Leu617=)
c.1305G>C (p.Leu435=)
2g.168944695C>TCA429985276ABCB11c.837G>A (p.Leu279=)
c.2520G>A (p.Leu840=)
c.1209G>A (n.1209G>A)
c.2562G>A (p.Leu854=)
c.2622G>A (p.Leu874=)
c.846G>A (p.Leu282=)
c.1851G>A (p.Leu617=)
c.1305G>A (p.Leu435=)
 dbSNP
2g.168944696A>CCA349126533ABCB11c.836T>G (p.Leu279Arg)
c.2519T>G (p.Leu840Arg)
c.1208T>G (n.1208T>G)
c.2561T>G (p.Leu854Arg)
c.2621T>G (p.Leu874Arg)
c.845T>G (p.Leu282Arg)
c.1850T>G (p.Leu617Arg)
c.1304T>G (p.Leu435Arg)
 ClinVar
2g.168944696A>GCA349126534ABCB11c.836T>C (p.Leu279Pro)
c.2519T>C (p.Leu840Pro)
c.1208T>C (n.1208T>C)
c.2561T>C (p.Leu854Pro)
c.2621T>C (p.Leu874Pro)
c.845T>C (p.Leu282Pro)
c.1850T>C (p.Leu617Pro)
c.1304T>C (p.Leu435Pro)
2g.168944696A>TCA349126536ABCB11c.836T>A (p.Leu279Gln)
c.2519T>A (p.Leu840Gln)
c.1208T>A (n.1208T>A)
c.2561T>A (p.Leu854Gln)
c.2621T>A (p.Leu874Gln)
c.845T>A (p.Leu282Gln)
c.1850T>A (p.Leu617Gln)
c.1304T>A (p.Leu435Gln)
2g.168944697G>ACA429985279ABCB11c.835C>T (p.Leu279=)
c.2518C>T (p.Leu840=)
c.1207C>T (n.1207C>T)
c.2560C>T (p.Leu854=)
c.2620C>T (p.Leu874=)
c.844C>T (p.Leu282=)
c.1849C>T (p.Leu617=)
c.1303C>T (p.Leu435=)
2g.168944697G>CCA349126537ABCB11c.835C>G (p.Leu279Val)
c.2518C>G (p.Leu840Val)
c.1207C>G (n.1207C>G)
c.2560C>G (p.Leu854Val)
c.2620C>G (p.Leu874Val)
c.844C>G (p.Leu282Val)
c.1849C>G (p.Leu617Val)
c.1303C>G (p.Leu435Val)
2g.168944697G=CA1306207179ABCB11c.835C= (p.Leu279=)
c.2518C= (p.Leu840=)
c.1207C= (n.1207C=)
c.2560C= (p.Leu854=)
c.2620C= (p.Leu874=)
c.844C= (p.Leu282=)
c.1849C= (p.Leu617=)
c.1303C= (p.Leu435=)
2g.168944697G>TCA349126540ABCB11c.835C>A (p.Leu279Met)
c.2518C>A (p.Leu840Met)
c.1207C>A (n.1207C>A)
c.2560C>A (p.Leu854Met)
c.2620C>A (p.Leu874Met)
c.844C>A (p.Leu282Met)
c.1849C>A (p.Leu617Met)
c.1303C>A (p.Leu435Met)
 dbSNP
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

Number of alleles fetched