| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.87417371_87417375del | CA645567551 | ABCB4 | c.2625_2629del (p.Met875IlefsTer10) c.2520_2524del (p.Met840IlefsTer10) c.2646_2650del (p.Met882IlefsTer10) c.1965_1969del (p.Met655IlefsTer10) n.2721_2725del c.2895_2899del (p.Met965IlefsTer10) c.2790_2794del (p.Met930IlefsTer10) n.3396_3400del | COSMIC |
| 7 | g.87417368del | CA2578940300 | ABCB4 | c.2628del (p.Lys876AsnfsTer25) c.2523del (p.Lys841AsnfsTer25) c.2649del (p.Lys883AsnfsTer25) c.1968del (p.Lys656AsnfsTer25) n.2724del c.2898del (p.Lys966AsnfsTer25) c.2793del (p.Lys931AsnfsTer25) n.3399del | gnomAD v4 |
| 7 | g.87417368T>A | CA10605868 | ABCB4 | c.2626A>T (p.Lys876Ter) c.2521A>T (p.Lys841Ter) c.2647A>T (p.Lys883Ter) c.1966A>T (p.Lys656Ter) n.2722A>T c.2896A>T (p.Lys966Ter) c.2791A>T (p.Lys931Ter) n.3397A>T | ClinVar dbSNP |
| 7 | g.87417368T>C | CA368061207 | ABCB4 | c.2626A>G (p.Lys876Glu) c.2521A>G (p.Lys841Glu) c.2647A>G (p.Lys883Glu) c.1966A>G (p.Lys656Glu) n.2722A>G c.2896A>G (p.Lys966Glu) c.2791A>G (p.Lys931Glu) n.3397A>G | |
| 7 | g.87417368T>G | CA368061208 | ABCB4 | c.2626A>C (p.Lys876Gln) c.2521A>C (p.Lys841Gln) c.2647A>C (p.Lys883Gln) c.1966A>C (p.Lys656Gln) n.2722A>C c.2896A>C (p.Lys966Gln) c.2791A>C (p.Lys931Gln) n.3397A>C | |
| 7 | g.87417368T= | CA1723579395 | ABCB4 | c.2626A= (p.Lys876=) c.2521A= (p.Lys841=) c.2647A= (p.Lys883=) c.1966A= (p.Lys656=) n.2722A= c.2896A= (p.Lys966=) c.2791A= (p.Lys931=) n.3397A= | |
| 7 | g.87417368_87417369delinsAT | CA10605878 | ABCB4 | c.2625_2626delinsAT (p.Met875IlefsTer2) c.2520_2521delinsAT (p.Met840IlefsTer2) c.2646_2647delinsAT (p.Met882IlefsTer2) c.1965_1966delinsAT (p.Met655IlefsTer2) n.2721_2722delinsAT c.2895_2896delinsAT (p.Met965IlefsTer2) c.2790_2791delinsAT (p.Met930IlefsTer2) n.3396_3397delinsAT | ClinVar dbSNP |
| 7 | g.87417368_87417369delinsTC | CA1723579398 | ABCB4 | c.2625_2626delinsGA (p.Met875=) c.2520_2521delinsGA (p.Met840=) c.2646_2647delinsGA (p.Met882=) c.1965_1966delinsGA (p.Met655=) n.2721_2722delinsGA c.2895_2896delinsGA (p.Met965=) c.2790_2791delinsGA (p.Met930=) n.3396_3397delinsGA | |
| 7 | g.87417369C>A | CA368061210 | ABCB4 | c.2625G>T (p.Met875Ile) c.2520G>T (p.Met840Ile) c.2646G>T (p.Met882Ile) c.1965G>T (p.Met655Ile) n.2721G>T c.2895G>T (p.Met965Ile) c.2790G>T (p.Met930Ile) n.3396G>T | |
| 7 | g.87417369C= | CA1723579407 | ABCB4 | c.2625G= (p.Met875=) c.2520G= (p.Met840=) c.2646G= (p.Met882=) c.1965G= (p.Met655=) n.2721G= c.2895G= (p.Met965=) c.2790G= (p.Met930=) n.3396G= | |
| 7 | g.87417369C>G | CA368061212 | ABCB4 | c.2625G>C (p.Met875Ile) c.2520G>C (p.Met840Ile) c.2646G>C (p.Met882Ile) c.1965G>C (p.Met655Ile) n.2721G>C c.2895G>C (p.Met965Ile) c.2790G>C (p.Met930Ile) n.3396G>C | |
| 7 | g.87417369C>T | CA10605870 | ABCB4 | c.2625G>A (p.Met875Ile) c.2520G>A (p.Met840Ile) c.2646G>A (p.Met882Ile) c.1965G>A (p.Met655Ile) n.2721G>A c.2895G>A (p.Met965Ile) c.2790G>A (p.Met930Ile) n.3396G>A | ClinVar dbSNP |
| 7 | g.87417370A>C | CA368061217 | ABCB4 | c.2624T>G (p.Met875Arg) c.2519T>G (p.Met840Arg) c.2645T>G (p.Met882Arg) c.1964T>G (p.Met655Arg) n.2720T>G c.2894T>G (p.Met965Arg) c.2789T>G (p.Met930Arg) n.3395T>G | |
| 7 | g.87417370A>G | CA368061218 | ABCB4 | c.2624T>C (p.Met875Thr) c.2519T>C (p.Met840Thr) c.2645T>C (p.Met882Thr) c.1964T>C (p.Met655Thr) n.2720T>C c.2894T>C (p.Met965Thr) c.2789T>C (p.Met930Thr) n.3395T>C | gnomAD v4 |
| 7 | g.87417370A>T | CA368061215 | ABCB4 | c.2624T>A (p.Met875Lys) c.2519T>A (p.Met840Lys) c.2645T>A (p.Met882Lys) c.1964T>A (p.Met655Lys) n.2720T>A c.2894T>A (p.Met965Lys) c.2789T>A (p.Met930Lys) n.3395T>A | |
| 7 | g.87417371T>A | CA368061220 | ABCB4 | c.2623A>T (p.Met875Leu) c.2518A>T (p.Met840Leu) c.2644A>T (p.Met882Leu) c.1963A>T (p.Met655Leu) n.2719A>T c.2893A>T (p.Met965Leu) c.2788A>T (p.Met930Leu) n.3394A>T | |
| 7 | g.87417371T>C | CA368061222 | ABCB4 | c.2623A>G (p.Met875Val) c.2518A>G (p.Met840Val) c.2644A>G (p.Met882Val) c.1963A>G (p.Met655Val) n.2719A>G c.2893A>G (p.Met965Val) c.2788A>G (p.Met930Val) n.3394A>G | |
| 7 | g.87417371T>G | CA368061224 | ABCB4 | c.2623A>C (p.Met875Leu) c.2518A>C (p.Met840Leu) c.2644A>C (p.Met882Leu) c.1963A>C (p.Met655Leu) n.2719A>C c.2893A>C (p.Met965Leu) c.2788A>C (p.Met930Leu) n.3394A>C | |
| 7 | g.87417372T>A | CA368061226 | ABCB4 | c.2622A>T (p.Glu874Asp) c.2517A>T (p.Glu839Asp) c.2643A>T (p.Glu881Asp) c.1962A>T (p.Glu654Asp) n.2718A>T c.2892A>T (p.Glu964Asp) c.2787A>T (p.Glu929Asp) n.3393A>T | |
| 7 | g.87417372T>C | CA456358361 | ABCB4 | c.2622A>G (p.Glu874=) c.2517A>G (p.Glu839=) c.2643A>G (p.Glu881=) c.1962A>G (p.Glu654=) n.2718A>G c.2892A>G (p.Glu964=) c.2787A>G (p.Glu929=) n.3393A>G | |
| 7 | g.87417372T>G | CA368061227 | ABCB4 | c.2622A>C (p.Glu874Asp) c.2517A>C (p.Glu839Asp) c.2643A>C (p.Glu881Asp) c.1962A>C (p.Glu654Asp) n.2718A>C c.2892A>C (p.Glu964Asp) c.2787A>C (p.Glu929Asp) n.3393A>C | |
| 7 | g.87417373T>A | CA368061229 | ABCB4 | c.2621A>T (p.Glu874Val) c.2516A>T (p.Glu839Val) c.2642A>T (p.Glu881Val) c.1961A>T (p.Glu654Val) n.2717A>T c.2891A>T (p.Glu964Val) c.2786A>T (p.Glu929Val) n.3392A>T | |
| 7 | g.87417373T>C | CA368061231 | ABCB4 | c.2621A>G (p.Glu874Gly) c.2516A>G (p.Glu839Gly) c.2642A>G (p.Glu881Gly) c.1961A>G (p.Glu654Gly) n.2717A>G c.2891A>G (p.Glu964Gly) c.2786A>G (p.Glu929Gly) n.3392A>G | |
| 7 | g.87417373T>G | CA368061232 | ABCB4 | c.2621A>C (p.Glu874Ala) c.2516A>C (p.Glu839Ala) c.2642A>C (p.Glu881Ala) c.1961A>C (p.Glu654Ala) n.2717A>C c.2891A>C (p.Glu964Ala) c.2786A>C (p.Glu929Ala) n.3392A>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.87417373T= | CA1723579412 | ABCB4 | c.2621A= (p.Glu874=) c.2516A= (p.Glu839=) c.2642A= (p.Glu881=) c.1961A= (p.Glu654=) n.2717A= c.2891A= (p.Glu964=) c.2786A= (p.Glu929=) n.3392A= | |
| 7 | g.87417374C>A | CA368061233 | ABCB4 | c.2620G>T (p.Glu874Ter) c.2515G>T (p.Glu839Ter) c.2641G>T (p.Glu881Ter) c.1960G>T (p.Glu654Ter) n.2716G>T c.2890G>T (p.Glu964Ter) c.2785G>T (p.Glu929Ter) n.3391G>T | |
| 7 | g.87417374C>G | CA368061235 | ABCB4 | c.2620G>C (p.Glu874Gln) c.2515G>C (p.Glu839Gln) c.2641G>C (p.Glu881Gln) c.1960G>C (p.Glu654Gln) n.2716G>C c.2890G>C (p.Glu964Gln) c.2785G>C (p.Glu929Gln) n.3391G>C | |
| 7 | g.87417374C>T | CA368061236 | ABCB4 | c.2620G>A (p.Glu874Lys) c.2515G>A (p.Glu839Lys) c.2641G>A (p.Glu881Lys) c.1960G>A (p.Glu654Lys) n.2716G>A c.2890G>A (p.Glu964Lys) c.2785G>A (p.Glu929Lys) n.3391G>A | |
| 7 | g.87417375A= | CA1723579420 | ABCB4 | c.2619T= (p.Val873=) c.2514T= (p.Val838=) c.2640T= (p.Val880=) c.1959T= (p.Val653=) n.2715T= c.2889T= (p.Val963=) c.2784T= (p.Val928=) n.3390T= | |
| 7 | g.87417375A>C | CA4326974 | ABCB4 | c.2619T>G (p.Val873=) c.2514T>G (p.Val838=) c.2640T>G (p.Val880=) c.1959T>G (p.Val653=) n.2715T>G c.2889T>G (p.Val963=) c.2784T>G (p.Val928=) n.3390T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417375A>G | CA456358366 | ABCB4 | c.2619T>C (p.Val873=) c.2514T>C (p.Val838=) c.2640T>C (p.Val880=) c.1959T>C (p.Val653=) n.2715T>C c.2889T>C (p.Val963=) c.2784T>C (p.Val928=) n.3390T>C | |
| 7 | g.87417375A>T | CA456358365 | ABCB4 | c.2619T>A (p.Val873=) c.2514T>A (p.Val838=) c.2640T>A (p.Val880=) c.1959T>A (p.Val653=) n.2715T>A c.2889T>A (p.Val963=) c.2784T>A (p.Val928=) n.3390T>A | |
| 7 | g.87417376A= | CA1723579426 | ABCB4 | c.2618T= (p.Val873=) c.2513T= (p.Val838=) c.2639T= (p.Val880=) c.1958T= (p.Val653=) n.2714T= c.2888T= (p.Val963=) c.2783T= (p.Val928=) n.3389T= | |
| 7 | g.87417376A>C | CA368061241 | ABCB4 | c.2618T>G (p.Val873Gly) c.2513T>G (p.Val838Gly) c.2639T>G (p.Val880Gly) c.1958T>G (p.Val653Gly) n.2714T>G c.2888T>G (p.Val963Gly) c.2783T>G (p.Val928Gly) n.3389T>G | |
| 7 | g.87417376A>G | CA4326975 | ABCB4 | c.2618T>C (p.Val873Ala) c.2513T>C (p.Val838Ala) c.2639T>C (p.Val880Ala) c.1958T>C (p.Val653Ala) n.2714T>C c.2888T>C (p.Val963Ala) c.2783T>C (p.Val928Ala) n.3389T>C | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.87417376A>T | CA368061239 | ABCB4 | c.2618T>A (p.Val873Asp) c.2513T>A (p.Val838Asp) c.2639T>A (p.Val880Asp) c.1958T>A (p.Val653Asp) n.2714T>A c.2888T>A (p.Val963Asp) c.2783T>A (p.Val928Asp) n.3389T>A | |
| 7 | g.87417377C>A | CA368061243 | ABCB4 | c.2617G>T (p.Val873Phe) c.2512G>T (p.Val838Phe) c.2638G>T (p.Val880Phe) c.1957G>T (p.Val653Phe) n.2713G>T c.2887G>T (p.Val963Phe) c.2782G>T (p.Val928Phe) n.3388G>T | gnomAD v4 |
| 7 | g.87417377C>G | CA368061245 | ABCB4 | c.2617G>C (p.Val873Leu) c.2512G>C (p.Val838Leu) c.2638G>C (p.Val880Leu) c.1957G>C (p.Val653Leu) n.2713G>C c.2887G>C (p.Val963Leu) c.2782G>C (p.Val928Leu) n.3388G>C | |
| 7 | g.87417377C>T | CA368061246 | ABCB4 | c.2617G>A (p.Val873Ile) c.2512G>A (p.Val838Ile) c.2638G>A (p.Val880Ile) c.1957G>A (p.Val653Ile) n.2713G>A c.2887G>A (p.Val963Ile) c.2782G>A (p.Val928Ile) n.3388G>A | |
| 7 | g.87417378A= | CA1723579430 | ABCB4 | c.2616T= (p.Ile872=) c.2511T= (p.Ile837=) c.2637T= (p.Ile879=) c.1956T= (p.Ile652=) n.2712T= c.2886T= (p.Ile962=) c.2781T= (p.Ile927=) n.3387T= | |
| 7 | g.87417378A>C | CA368061247 | ABCB4 | c.2616T>G (p.Ile872Met) c.2511T>G (p.Ile837Met) c.2637T>G (p.Ile879Met) c.1956T>G (p.Ile652Met) n.2712T>G c.2886T>G (p.Ile962Met) c.2781T>G (p.Ile927Met) n.3387T>G | |
| 7 | g.87417378A>G | CA456358375 | ABCB4 | c.2616T>C (p.Ile872=) c.2511T>C (p.Ile837=) c.2637T>C (p.Ile879=) c.1956T>C (p.Ile652=) n.2712T>C c.2886T>C (p.Ile962=) c.2781T>C (p.Ile927=) n.3387T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417378A>T | CA456358373 | ABCB4 | c.2616T>A (p.Ile872=) c.2511T>A (p.Ile837=) c.2637T>A (p.Ile879=) c.1956T>A (p.Ile652=) n.2712T>A c.2886T>A (p.Ile962=) c.2781T>A (p.Ile927=) n.3387T>A | |
| 7 | g.87417379del | CA2683599205 | ABCB4 | c.2616del (p.Ile872MetfsTer4) c.2511del (p.Ile837MetfsTer4) c.2637del (p.Ile879MetfsTer4) c.1956del (p.Ile652MetfsTer4) n.2712del c.2886del (p.Ile962MetfsTer4) c.2781del (p.Ile927MetfsTer4) n.3387del | gnomAD v4 |
| 7 | g.87417379A>C | CA368061249 | ABCB4 | c.2615T>G (p.Ile872Ser) c.2510T>G (p.Ile837Ser) c.2636T>G (p.Ile879Ser) c.1955T>G (p.Ile652Ser) n.2711T>G c.2885T>G (p.Ile962Ser) c.2780T>G (p.Ile927Ser) n.3386T>G | |
| 7 | g.87417379A>G | CA368061251 | ABCB4 | c.2615T>C (p.Ile872Thr) c.2510T>C (p.Ile837Thr) c.2636T>C (p.Ile879Thr) c.1955T>C (p.Ile652Thr) n.2711T>C c.2885T>C (p.Ile962Thr) c.2780T>C (p.Ile927Thr) n.3386T>C | COSMIC COSMIC |
| 7 | g.87417379A>T | CA368061253 | ABCB4 | c.2615T>A (p.Ile872Asn) c.2510T>A (p.Ile837Asn) c.2636T>A (p.Ile879Asn) c.1955T>A (p.Ile652Asn) n.2711T>A c.2885T>A (p.Ile962Asn) c.2780T>A (p.Ile927Asn) n.3386T>A | |
| 7 | g.87417380T>A | CA368061254 | ABCB4 | c.2614A>T (p.Ile872Phe) c.2509A>T (p.Ile837Phe) c.2635A>T (p.Ile879Phe) c.1954A>T (p.Ile652Phe) n.2710A>T c.2884A>T (p.Ile962Phe) c.2779A>T (p.Ile927Phe) n.3385A>T | |
| 7 | g.87417380T>C | CA368061255 | ABCB4 | c.2614A>G (p.Ile872Val) c.2509A>G (p.Ile837Val) c.2635A>G (p.Ile879Val) c.1954A>G (p.Ile652Val) n.2710A>G c.2884A>G (p.Ile962Val) c.2779A>G (p.Ile927Val) n.3385A>G | |
| 7 | g.87417380T>G | CA368061257 | ABCB4 | c.2614A>C (p.Ile872Leu) c.2509A>C (p.Ile837Leu) c.2635A>C (p.Ile879Leu) c.1954A>C (p.Ile652Leu) n.2710A>C c.2884A>C (p.Ile962Leu) c.2779A>C (p.Ile927Leu) n.3385A>C | dbSNP gnomAD v3 gnomAD v4 |