Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.168944635T>A | CA349126137 | ABCB11 | c.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 |
2 | g.168944635T>C | CA429985203 | ABCB11 | c.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=) | |
2 | g.168944635T>G | CA349126138 | ABCB11 | c.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) | |
2 | g.168944635T= | CA1306213478 | ABCB11 | c.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=) | |
2 | g.168944636C>A | CA349126140 | ABCB11 | c.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) | |
2 | g.168944636C>G | CA349126143 | ABCB11 | c.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) | |
2 | g.168944636C>T | CA349126144 | ABCB11 | c.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) | |
2 | g.168944637T>A | CA349126148 | ABCB11 | c.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) | |
2 | g.168944637T>C | CA349126151 | ABCB11 | c.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) | |
2 | g.168944637T>G | CA429985207 | ABCB11 | c.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=) | |
2 | g.168944638T>A | CA429985208 | ABCB11 | c.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=) | |
2 | g.168944638T>C | CA429985209 | ABCB11 | c.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=) | |
2 | g.168944638T>G | CA429985210 | ABCB11 | c.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=) | |
2 | g.168944639G>A | CA349126156 | ABCB11 | c.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 |
2 | g.168944639G>C | CA349126159 | ABCB11 | c.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 |
2 | g.168944639G= | CA1306213479 | ABCB11 | c.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=) | |
2 | g.168944639G>T | CA349126162 | ABCB11 | c.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) | |
2 | g.168944640T>A | CA349126167 | ABCB11 | c.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) | |
2 | g.168944640T>C | CA1951248 | ABCB11 | c.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 |
2 | g.168944640T>G | CA349126165 | ABCB11 | c.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) | |
2 | g.168944640T= | CA1306213480 | ABCB11 | c.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=) | |
2 | g.168944641T>A | CA429985211 | ABCB11 | c.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 |
2 | g.168944641T>C | CA1951249 | ABCB11 | c.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 |
2 | g.168944641T>G | CA429985212 | ABCB11 | c.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=) | |
2 | g.168944641T= | CA1306213481 | ABCB11 | c.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=) | |
2 | g.168944642G>A | CA349126173 | ABCB11 | c.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) | |
2 | g.168944642G>C | CA1951250 | ABCB11 | c.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 |
2 | g.168944642G= | CA1306213482 | ABCB11 | c.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=) | |
2 | g.168944642G>T | CA349126176 | ABCB11 | c.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) | |
2 | g.168944643T>A | CA349126179 | ABCB11 | c.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) | |
2 | g.168944643T>C | CA349126180 | ABCB11 | c.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) | |
2 | g.168944643T>G | CA349126184 | ABCB11 | c.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) | |
2 | g.168944644C>A | CA349126188 | ABCB11 | c.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) | |
2 | g.168944644C= | CA1306213483 | ABCB11 | c.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=) | |
2 | g.168944644C>G | CA349126190 | ABCB11 | c.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) | |
2 | g.168944644C>T | CA429985214 | ABCB11 | c.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 |
2 | g.168944645A= | CA1306213484 | ABCB11 | c.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=) | |
2 | g.168944645A>C | CA349126195 | ABCB11 | c.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) | |
2 | g.168944645A>G | CA59880710 | ABCB11 | c.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 |
2 | g.168944645A>T | CA349126198 | ABCB11 | c.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) | |
2 | g.168944646A= | CA1306213485 | ABCB11 | c.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=) | |
2 | g.168944646A>C | CA349126202 | ABCB11 | c.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 |
2 | g.168944646A>G | CA1951251 | ABCB11 | c.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 |
2 | g.168944646A>T | CA349126199 | ABCB11 | c.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) | |
2 | g.168944647T>A | CA429985217 | ABCB11 | c.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=) | |
2 | g.168944647T>C | CA1951252 | ABCB11 | c.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 |
2 | g.168944647T>G | CA429985216 | ABCB11 | c.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=) | |
2 | g.168944647T= | CA1306213486 | ABCB11 | c.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=) | |
2 | g.168944648G>A | CA349126206 | ABCB11 | c.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) | |
2 | g.168944648G>C | CA349126209 | ABCB11 | c.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) | |
2 | g.168944648G>T | CA349126212 | ABCB11 | c.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) | |
2 | g.168944649C>A | CA349126218 | ABCB11 | c.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) | |
2 | g.168944649C= | CA1306213487 | ABCB11 | c.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=) | |
2 | g.168944649C>G | CA349126217 | ABCB11 | c.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) | |
2 | g.168944649C>T | CA349126216 | ABCB11 | c.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 |
2 | g.168944650T>A | CA429985220 | ABCB11 | c.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=) | |
2 | g.168944650T>C | CA59880726 | ABCB11 | c.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 |
2 | g.168944650T>G | CA429985221 | ABCB11 | c.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=) | |
2 | g.168944650T= | CA1306213488 | ABCB11 | c.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=) | |
2 | g.168944651C>A | CA349126221 | ABCB11 | c.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) | |
2 | g.168944651C>G | CA349126222 | ABCB11 | c.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) | |
2 | g.168944651C>T | CA349126225 | ABCB11 | c.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) | |
2 | g.168944652C>A | CA349126227 | ABCB11 | c.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) | |
2 | g.168944652C>G | CA349126230 | ABCB11 | c.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) | |
2 | g.168944652C>T | CA349126242 | ABCB11 | c.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 |
2 | g.168944653A>C | CA429985223 | ABCB11 | c.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=) | |
2 | g.168944653A>G | CA429985224 | ABCB11 | c.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=) | |
2 | g.168944653A>T | CA429985225 | ABCB11 | c.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=) | |
2 | g.168944654G>A | CA349126252 | ABCB11 | c.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) | |
2 | g.168944654G>C | CA349126247 | ABCB11 | c.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) | |
2 | g.168944654G>T | CA349126245 | ABCB11 | c.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) | |
2 | g.168944656del | CA2573133644 | ABCB11 | c.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 |
2 | g.168944655G>A | CA349126254 | ABCB11 | c.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) | |
2 | g.168944655G>C | CA349126257 | ABCB11 | c.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 |
2 | g.168944655G>T | CA349126255 | ABCB11 | c.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) | |
2 | g.168944656G>A | CA429985227 | ABCB11 | c.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=) | |
2 | g.168944656G>C | CA349126261 | ABCB11 | c.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) | |
2 | g.168944656G= | CA1306213489 | ABCB11 | c.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=) | |
2 | g.168944656G>T | CA1951253 | ABCB11 | c.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 |
2 | g.168944657C>A | CA349126265 | ABCB11 | c.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 |
2 | g.168944657C= | CA1306213490 | ABCB11 | c.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=) | |
2 | g.168944657C>G | CA349126271 | ABCB11 | c.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) | |
2 | g.168944657C>T | CA349126267 | ABCB11 | c.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 |
2 | g.168944657_168944684delinsCTATTTCTGAGGTCATCAAACCAGGCAA | CA1306213491 | ABCB11 | c.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=) | |
2 | g.168944658T>A | CA349126274 | ABCB11 | c.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) | |
2 | g.168944658T>C | CA349126278 | ABCB11 | c.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) | |
2 | g.168944658T>G | CA349126276 | ABCB11 | c.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) | |
2 | g.168944661_168944687del | CA760457856 | ABCB11 | c.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 |
2 | g.168944659A>C | CA349126281 | ABCB11 | c.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) | |
2 | g.168944659A>G | CA429985228 | ABCB11 | c.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=) | |
2 | g.168944659A>T | CA349126285 | ABCB11 | c.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) | |
2 | g.168944660T>A | CA349126292 | ABCB11 | c.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) | |
2 | g.168944660T>C | CA349126294 | ABCB11 | c.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 |
2 | g.168944660T>G | CA349126293 | ABCB11 | c.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 |
2 | g.168944660T= | CA1306213492 | ABCB11 | c.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=) | |
2 | g.168944661T>A | CA349126295 | ABCB11 | c.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) | |
2 | g.168944661T>C | CA349126297 | ABCB11 | c.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) | |
2 | g.168944661T>G | CA349126296 | ABCB11 | c.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) | |
2 | g.168944662T>A | CA349126299 | ABCB11 | c.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) | |
2 | g.168944662T>C | CA429985233 | ABCB11 | c.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=) | |
2 | g.168944662T>G | CA349126302 | ABCB11 | c.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 |
2 | g.168944662T= | CA1306213493 | ABCB11 | c.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=) | |
2 | g.168944663C>A | CA349126304 | ABCB11 | c.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) | |
2 | g.168944663C= | CA1306213494 | ABCB11 | c.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=) | |
2 | g.168944663C>G | CA349126305 | ABCB11 | c.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) | |
2 | g.168944663C>T | CA349126307 | ABCB11 | c.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 |
2 | g.168944664T>A | CA349126309 | ABCB11 | c.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) | |
2 | g.168944664T>C | CA349126311 | ABCB11 | c.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 |
2 | g.168944664T>G | CA429985237 | ABCB11 | c.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=) | |
2 | g.168944664T= | CA1306213495 | ABCB11 | c.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=) | |
2 | g.168944665G>A | CA429985238 | ABCB11 | c.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 |
2 | g.168944665G>C | CA429985239 | ABCB11 | c.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 |
2 | g.168944665G>T | CA429985240 | ABCB11 | c.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=) | |
2 | g.168944666_168944668dup | CA537971274 | ABCB11 | c.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 |
2 | g.168944666A>C | CA349126313 | ABCB11 | c.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) | |
2 | g.168944666A>G | CA349126315 | ABCB11 | c.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) | |
2 | g.168944666A>T | CA349126319 | ABCB11 | c.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) | |
2 | g.168944667G>A | CA349126321 | ABCB11 | c.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) | |
2 | g.168944667G>C | CA349126322 | ABCB11 | c.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 |
2 | g.168944667G>T | CA349126325 | ABCB11 | c.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) | |
2 | g.168944668G>A | CA429985244 | ABCB11 | c.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 |
2 | g.168944668G>C | CA349126330 | ABCB11 | c.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) | |
2 | g.168944668G>T | CA349126327 | ABCB11 | c.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) | |
2 | g.168944669T>A | CA349126335 | ABCB11 | c.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) | |
2 | g.168944669T>C | CA349126337 | ABCB11 | c.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) | |
2 | g.168944669T>G | CA349126339 | ABCB11 | c.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) | |
2 | g.168944670C>A | CA349126342 | ABCB11 | c.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) | |
2 | g.168944670C>G | CA349126344 | ABCB11 | c.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) | |
2 | g.168944670C>T | CA349126346 | ABCB11 | c.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) | |
2 | g.168944671A>C | CA349126357 | ABCB11 | c.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) | |
2 | g.168944671A>G | CA429985246 | ABCB11 | c.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=) | |
2 | g.168944671A>T | CA349126358 | ABCB11 | c.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) | |
2 | g.168944672T>A | CA349126363 | ABCB11 | c.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 |
2 | g.168944672T>C | CA349126366 | ABCB11 | c.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 |
2 | g.168944672T>G | CA349126369 | ABCB11 | c.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) | |
2 | g.168944672T= | CA1306213496 | ABCB11 | c.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=) | |
2 | g.168944672_168944673delinsTC | CA1306213497 | ABCB11 | c.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=) | |
2 | g.168944673del | CA1306213500 | ABCB11 | c.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 |
2 | g.168944673C>A | CA349126374 | ABCB11 | c.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 |
2 | g.168944673C= | CA1306213499 | ABCB11 | c.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=) | |
2 | g.168944673C>G | CA349126377 | ABCB11 | c.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 |
2 | g.168944673C>T | CA349126372 | ABCB11 | c.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) | |
2 | g.168944673_168944674delinsCA | CA1306213498 | ABCB11 | c.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=) | |
2 | g.168944674A>C | CA349126382 | ABCB11 | c.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 |
2 | g.168944674A>G | CA429985248 | ABCB11 | c.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=) | |
2 | g.168944674A>T | CA349126386 | ABCB11 | c.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) | |
2 | g.168944676del | CA915942945 | ABCB11 | c.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 |
2 | g.168944675A>C | CA349126387 | ABCB11 | c.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) | |
2 | g.168944675A>G | CA349126388 | ABCB11 | c.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) | |
2 | g.168944675A>T | CA349126389 | ABCB11 | c.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) | |
2 | g.168944676A>C | CA349126393 | ABCB11 | c.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) | |
2 | g.168944676A>G | CA349126395 | ABCB11 | c.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) | |
2 | g.168944676A>T | CA349126396 | ABCB11 | c.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) | |
2 | g.168944677C>A | CA349126400 | ABCB11 | c.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 |
2 | g.168944677C= | CA1306213501 | ABCB11 | c.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=) | |
2 | g.168944677C>G | CA349126412 | ABCB11 | c.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) | |
2 | g.168944677C>T | CA349126415 | ABCB11 | c.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) | |
2 | g.168944678del | CA2661805091 | ABCB11 | c.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 |
2 | g.168944678C>A | CA349126419 | ABCB11 | c.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) | |
2 | g.168944678C>G | CA349126418 | ABCB11 | c.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) | |
2 | g.168944678C>T | CA349126417 | ABCB11 | c.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) | |
2 | g.168944679A= | CA1306213502 | ABCB11 | c.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=) | |
2 | g.168944679A>C | CA349126420 | ABCB11 | c.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) | |
2 | g.168944679A>G | CA349126422 | ABCB11 | c.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 |
2 | g.168944679A>T | CA349126423 | ABCB11 | c.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) | |
2 | g.168944680G>A | CA429985251 | ABCB11 | c.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 |
2 | g.168944680G>C | CA429985252 | ABCB11 | c.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=) | |
2 | g.168944680G= | CA1306213503 | ABCB11 | c.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=) | |
2 | g.168944680G>T | CA429985253 | ABCB11 | c.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=) | |
2 | g.168944681G>A | CA349126425 | ABCB11 | c.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) | |
2 | g.168944681G>C | CA349126429 | ABCB11 | c.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) | |
2 | g.168944681G>T | CA349126431 | ABCB11 | c.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) | |
2 | g.168944682C>A | CA349126434 | ABCB11 | c.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 |
2 | g.168944682C>G | CA349126440 | ABCB11 | c.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) | |
2 | g.168944682C>T | CA349126441 | ABCB11 | c.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) | |
2 | g.168944683A>C | CA349126443 | ABCB11 | c.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) | |
2 | g.168944683A>G | CA429985257 | ABCB11 | c.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=) | |
2 | g.168944683A>T | CA429985258 | ABCB11 | c.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=) | |
2 | g.168944684A>C | CA349126446 | ABCB11 | c.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) | |
2 | g.168944684A>G | CA349126449 | ABCB11 | c.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) | |
2 | g.168944684A>T | CA349126453 | ABCB11 | c.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) | |
2 | g.168944685T>A | CA349126460 | ABCB11 | c.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) | |
2 | g.168944685T>C | CA349126462 | ABCB11 | c.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) | |
2 | g.168944685T>G | CA349126456 | ABCB11 | c.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) | |
2 | g.168944686A>C | CA349126465 | ABCB11 | c.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) | |
2 | g.168944686A>G | CA429985262 | ABCB11 | c.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 |
2 | g.168944686A>T | CA349126468 | ABCB11 | c.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) | |
2 | g.168944687T>A | CA349126472 | ABCB11 | c.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) | |
2 | g.168944687T>C | CA349126474 | ABCB11 | c.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 |
2 | g.168944687T>G | CA349126476 | ABCB11 | c.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) | |
2 | g.168944688C>A | CA349126485 | ABCB11 | c.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 |
2 | g.168944688C= | CA1306207168 | ABCB11 | c.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=) | |
2 | g.168944688C>G | CA1951254 | ABCB11 | c.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 |
2 | g.168944688C>T | CA349126482 | ABCB11 | c.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) | |
2 | g.168944689T>A | CA349126488 | ABCB11 | c.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) | |
2 | g.168944689T>C | CA429985265 | ABCB11 | c.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=) | |
2 | g.168944689T>G | CA349126491 | ABCB11 | c.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) | |
2 | g.168944690T>A | CA349126492 | ABCB11 | c.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) | |
2 | g.168944690T>C | CA349126494 | ABCB11 | c.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 |
2 | g.168944690T>G | CA349126497 | ABCB11 | c.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) | |
2 | g.168944691G>A | CA349126516 | ABCB11 | c.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 |
2 | g.168944691G>C | CA349126501 | ABCB11 | c.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) | |
2 | g.168944691G>T | CA349126513 | ABCB11 | c.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 |
2 | g.168944692C>A | CA429985269 | ABCB11 | c.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=) | |
2 | g.168944692C= | CA1306207173 | ABCB11 | c.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=) | |
2 | g.168944692C>G | CA429985271 | ABCB11 | c.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=) | |
2 | g.168944692C>T | CA1951255 | ABCB11 | c.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 |
2 | g.168944693C>A | CA349126518 | ABCB11 | c.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) | |
2 | g.168944693C>G | CA349126520 | ABCB11 | c.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) | |
2 | g.168944693C>T | CA349126522 | ABCB11 | c.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) | |
2 | g.168944694C>A | CA349126524 | ABCB11 | c.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) | |
2 | g.168944694C= | CA1306207175 | ABCB11 | c.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=) | |
2 | g.168944694C>G | CA349126527 | ABCB11 | c.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 |
2 | g.168944694C>T | CA1951256 | ABCB11 | c.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 |
2 | g.168944695C>A | CA1951257 | ABCB11 | c.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 |
2 | g.168944695C= | CA1306207177 | ABCB11 | c.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=) | |
2 | g.168944695C>G | CA429985275 | ABCB11 | c.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=) | |
2 | g.168944695C>T | CA429985276 | ABCB11 | c.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 |
2 | g.168944696A>C | CA349126533 | ABCB11 | c.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 |
2 | g.168944696A>G | CA349126534 | ABCB11 | c.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) | |
2 | g.168944696A>T | CA349126536 | ABCB11 | c.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) | |
2 | g.168944697G>A | CA429985279 | ABCB11 | c.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=) | |
2 | g.168944697G>C | CA349126537 | ABCB11 | c.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) | |
2 | g.168944697G= | CA1306207179 | ABCB11 | c.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=) | |
2 | g.168944697G>T | CA349126540 | ABCB11 | c.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 |
2 | g.168944698C>A | CA349126544 | ABCB11 | c.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) | |
2 | g.168944698C= | CA1306207180 | ABCB11 | c.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=) | |
2 | g.168944698C>G | CA349126549 | ABCB11 | c.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) | |
2 | g.168944698C>T | CA349126547 | ABCB11 | c.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 |
2 | g.168944699A= | CA1306207182 | ABCB11 | c.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=) | |
2 | g.168944699A>C | CA349126552 | ABCB11 | c.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) | |
2 | g.168944699A>G | CA1951258 | ABCB11 | c.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 |
2 | g.168944699A>T | CA349126557 | ABCB11 | c.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) | |
2 | g.168944700T>A | CA349126561 | ABCB11 | c.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) | |
2 | g.168944700T>C | CA1951259 | ABCB11 | c.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 |
2 | g.168944700T>G | CA349126567 | ABCB11 | c.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) | |
2 | g.168944700T= | CA1306207184 | ABCB11 | c.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=) | |
2 | g.168944701T>A | CA429985284 | ABCB11 | c.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=) | |
2 | g.168944701T>C | CA429985282 | ABCB11 | c.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 |
2 | g.168944701T>G | CA429985283 | ABCB11 | c.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=) | |
2 | g.168944702G>A | CA349126575 | ABCB11 | c.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) | |
2 | g.168944702G>C | CA349126571 | ABCB11 | c.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) | |
2 | g.168944702G>T | CA349126574 | ABCB11 | c.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) | |
2 | g.168944703C>A | CA349126578 | ABCB11 | c.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) | |
2 | g.168944703C= | CA1306207186 | ABCB11 | c.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=) | |
2 | g.168944703C>G | CA349126588 | ABCB11 | c.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) | |
2 | g.168944703C>T | CA349126591 | ABCB11 | c.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 |
2 | g.168944704C>A | CA349126594 | ABCB11 | c.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) | |
2 | g.168944704C>G | CA349126595 | ABCB11 | c.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) | |
2 | g.168944704C>T | CA429985288 | ABCB11 | c.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 |
2 | g.168944705C>A | CA349126597 | ABCB11 | c.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) | |
2 | g.168944705C>G | CA349126611 | ABCB11 | c.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) | |
2 | g.168944705C>T | CA349126600 | ABCB11 | c.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) | |
2 | g.168944706T>A | CA349126613 | ABCB11 | c.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) | |
2 | g.168944706T>C | CA349126616 | ABCB11 | c.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) | |
2 | g.168944706T>G | CA429985292 | ABCB11 | c.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=) | |
2 | g.168944707G>A | CA429985293 | ABCB11 | c.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=) | |
2 | g.168944707G>C | CA349126618 | ABCB11 | c.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) | |
2 | g.168944707G>T | CA349126622 | ABCB11 | c.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) | |
2 | g.168944708A>C | CA349126624 | ABCB11 | c.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) | |
2 | g.168944708A>G | CA349126627 | ABCB11 | c.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) | |
2 | g.168944708A>T | CA349126629 | ABCB11 | c.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) | |
2 | g.168944709A>C | CA349126631 | ABCB11 | c.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) | |
2 | g.168944709A>G | CA349126632 | ABCB11 | c.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) | |
2 | g.168944709A>T | CA349126633 | ABCB11 | c.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) | |
2 | g.168944710A>C | CA429985295 | ABCB11 | c.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=) | |
2 | g.168944710A>G | CA429985296 | ABCB11 | c.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=) | |
2 | g.168944710A>T | CA429985297 | ABCB11 | c.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=) | |
2 | g.168944711C>A | CA349126641 | ABCB11 | c.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 |
2 | g.168944711C>G | CA349126638 | ABCB11 | c.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) | |
2 | g.168944711C>T | CA349126636 | ABCB11 | c.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) | |
2 | g.168944712C>A | CA349126643 | ABCB11 | c.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 |
2 | g.168944712C= | CA1306207188 | ABCB11 | c.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=) | |
2 | g.168944712C>G | CA349126657 | ABCB11 | c.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) | |
2 | g.168944712C>T | CA349126646 | ABCB11 | c.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 |
2 | g.168944713A= | CA1306207190 | ABCB11 | c.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=) | |
2 | g.168944713A>C | CA349126659 | ABCB11 | c.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) | |
2 | g.168944713A>G | CA429985300 | ABCB11 | c.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=) | |
2 | g.168944713A>T | CA1951260 | ABCB11 | c.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 |
2 | g.168944714A>C | CA349126666 | ABCB11 | c.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 |
2 | g.168944714A>G | CA349126668 | ABCB11 | c.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) | |
2 | g.168944714A>T | CA349126669 | ABCB11 | c.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) | |
2 | g.168944715A>C | CA349126673 | ABCB11 | c.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) | |
2 | g.168944715A>G | CA349126675 | ABCB11 | c.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) | |
2 | g.168944715A>T | CA349126678 | ABCB11 | c.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) | |
2 | g.168944716T>A | CA349126679 | ABCB11 | c.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) | |
2 | g.168944716T>C | CA429985304 | ABCB11 | c.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 |
2 | g.168944716T>G | CA1951261 | ABCB11 | c.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 |
2 | g.168944716T= | CA1306207191 | ABCB11 | c.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=) | |
2 | g.168944717T>A | CA349126680 | ABCB11 | c.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) | |
2 | g.168944717T>C | CA349126681 | ABCB11 | c.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) | |
2 | g.168944717T>G | CA349126682 | ABCB11 | c.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) | |
2 | g.168944718T>A | CA349126689 | ABCB11 | c.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) | |
2 | g.168944718T>C | CA349126684 | ABCB11 | c.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 |
2 | g.168944718T>G | CA349126685 | ABCB11 | c.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 |
2 | g.168944719A>C | CA429985306 | ABCB11 | c.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=) | |
2 | g.168944719A>G | CA429985307 | ABCB11 | c.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=) | |
2 | g.168944719A>T | CA429985308 | ABCB11 | c.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=) | |
2 | g.168944719_168944720delinsAC | CA1306207193 | ABCB11 | c.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=) | |
2 | g.168944720del | CA915942946 | ABCB11 | c.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 |
2 | g.168944720C>A | CA349126695 | ABCB11 | c.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 |
2 | g.168944720C= | CA1306207194 | ABCB11 | c.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=) | |
2 | g.168944720C>G | CA349126697 | ABCB11 | c.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) | |
2 | g.168944720C>T | CA59880798 | ABCB11 | c.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 |
2 | g.168944721G>A | CA1951262 | ABCB11 | c.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 |
2 | g.168944721G>C | CA349126706 | ABCB11 | c.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) | |
2 | g.168944721G= | CA1306207198 | ABCB11 | c.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=) | |
2 | g.168944721G>T | CA349126708 | ABCB11 | c.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) | |
2 | g.168944722T>A | CA429985312 | ABCB11 | c.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=) | |
2 | g.168944722T>C | CA429985313 | ABCB11 | c.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 |
2 | g.168944722T>G | CA429985314 | ABCB11 | c.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=) | |
2 | g.168944723A= | CA1306207199 | ABCB11 | c.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=) | |
2 | g.168944723A>C | CA349126711 | ABCB11 | c.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) | |
2 | g.168944723A>G | CA349126720 | ABCB11 | c.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 |
2 | g.168944723A>T | CA349126721 | ABCB11 | c.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) | |
2 | g.168944724G>A | CA429985315 | ABCB11 | c.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 |
2 | g.168944724G>C | CA349126728 | ABCB11 | c.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) | |
2 | g.168944724G>T | CA349126737 | ABCB11 | c.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) | |
2 | g.168944725C>A | CA349126745 | ABCB11 | c.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) | |
2 | g.168944725C= | CA1306207201 | ABCB11 | c.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=) | |
2 | g.168944725C>G | CA349126749 | ABCB11 | c.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) | |
2 | g.168944725C>T | CA1951263 | ABCB11 | c.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 |
2 | g.168944725_168944727del | CA2661805094 | ABCB11 | c.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 |
2 | g.168944726C>A | CA349126761 | ABCB11 | c.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 |
2 | g.168944726C= | CA1306207204 | ABCB11 | c.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=) | |
2 | g.168944726C>G | CA1951265 | ABCB11 | c.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 |
2 | g.168944726C>T | CA349126767 | ABCB11 | c.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) | |
2 | g.168944726_168944727delinsCT | CA1306207205 | ABCB11 | c.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=) | |
2 | g.168944727T>A | CA349126775 | ABCB11 | c.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) | |
2 | g.168944727T>C | CA349126779 | ABCB11 | c.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) | |
2 | g.168944727T>G | CA429985323 | ABCB11 | c.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=) | |
2 | g.168944727_168944731del | CA2586970394 | ABCB11 | c.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) | |
2 | g.168944731del | CA1951264 | ABCB11 | c.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 |
2 | g.168944728T>A | CA349126814 | ABCB11 | c.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) | |
2 | g.168944728T>C | CA429985326 | ABCB11 | c.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=) | |
2 | g.168944728T>G | CA349126835 | ABCB11 | c.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) | |
2 | g.168944729T>A | CA349126840 | ABCB11 | c.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) | |
2 | g.168944729T>C | CA349126843 | ABCB11 | c.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) | |
2 | g.168944729T>G | CA349126886 | ABCB11 | c.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) | |
2 | g.168944730T>A | CA349126898 | ABCB11 | c.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) | |
2 | g.168944730T>C | CA349126905 | ABCB11 | c.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 |
2 | g.168944730T>G | CA349126893 | ABCB11 | c.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) | |
2 | g.168944730T= | CA1306207207 | ABCB11 | c.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=) | |
2 | g.168944731T>A | CA429985331 | ABCB11 | c.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=) | |
2 | g.168944731T>C | CA429985330 | ABCB11 | c.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=) | |
2 | g.168944731T>G | CA429985329 | ABCB11 | c.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=) | |
2 | g.168944731_168944732delinsTG | CA1306207209 | ABCB11 | c.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=) | |
2 | g.168944732del | CA1306207210 | ABCB11 | c.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 |
2 | g.168944732G>A | CA1951266 | ABCB11 | c.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 |
2 | g.168944732G>C | CA349126922 | ABCB11 | c.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) | |
2 | g.168944732G= | CA1306207211 | ABCB11 | c.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=) | |
2 | g.168944732G>T | CA349126924 | ABCB11 | c.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) | |
2 | g.168944733T>A | CA349126926 | ABCB11 | c.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) | |
2 | g.168944733T>C | CA349126927 | ABCB11 | c.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) | |
2 | g.168944733T>G | CA349126928 | ABCB11 | c.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) | |
2 | g.168944734T>A | CA429985338 | ABCB11 | c.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=) | |
2 | g.168944734T>C | CA429985339 | ABCB11 | c.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=) | |
2 | g.168944734T>G | CA429985340 | ABCB11 | c.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=) | |
2 | g.168944735A>C | CA349126930 | ABCB11 | c.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) | |
2 | g.168944735A>G | CA349126934 | ABCB11 | c.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) | |
2 | g.168944735A>T | CA349126932 | ABCB11 | c.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) |