UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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 |
| 7 | g.87417380T= | CA1723579435 | ABCB4 | c.2614A= (p.Ile872=) c.2509A= (p.Ile837=) c.2635A= (p.Ile879=) c.1954A= (p.Ile652=) n.2710A= c.2884A= (p.Ile962=) c.2779A= (p.Ile927=) n.3385A= | |
| 7 | g.87417381T>A | CA456358382 | ABCB4 | c.2613A>T (p.Gly871=) c.2508A>T (p.Gly836=) c.2634A>T (p.Gly878=) c.1953A>T (p.Gly651=) n.2709A>T c.2883A>T (p.Gly961=) c.2778A>T (p.Gly926=) n.3384A>T | |
| 7 | g.87417381T>C | CA456358383 | ABCB4 | c.2613A>G (p.Gly871=) c.2508A>G (p.Gly836=) c.2634A>G (p.Gly878=) c.1953A>G (p.Gly651=) n.2709A>G c.2883A>G (p.Gly961=) c.2778A>G (p.Gly926=) n.3384A>G | |
| 7 | g.87417381T>G | CA456358384 | ABCB4 | c.2613A>C (p.Gly871=) c.2508A>C (p.Gly836=) c.2634A>C (p.Gly878=) c.1953A>C (p.Gly651=) n.2709A>C c.2883A>C (p.Gly961=) c.2778A>C (p.Gly926=) n.3384A>C | |
| 7 | g.87417382C>A | CA368061258 | ABCB4 | c.2612G>T (p.Gly871Val) c.2507G>T (p.Gly836Val) c.2633G>T (p.Gly878Val) c.1952G>T (p.Gly651Val) n.2708G>T c.2882G>T (p.Gly961Val) c.2777G>T (p.Gly926Val) n.3383G>T | |
| 7 | g.87417382C>G | CA368061260 | ABCB4 | c.2612G>C (p.Gly871Ala) c.2507G>C (p.Gly836Ala) c.2633G>C (p.Gly878Ala) c.1952G>C (p.Gly651Ala) n.2708G>C c.2882G>C (p.Gly961Ala) c.2777G>C (p.Gly926Ala) n.3383G>C | |
| 7 | g.87417382C>T | CA368061261 | ABCB4 | c.2612G>A (p.Gly871Glu) c.2507G>A (p.Gly836Glu) c.2633G>A (p.Gly878Glu) c.1952G>A (p.Gly651Glu) n.2708G>A c.2882G>A (p.Gly961Glu) c.2777G>A (p.Gly926Glu) n.3383G>A | |
| 7 | g.87417383C>A | CA368061265 | ABCB4 | c.2611G>T (p.Gly871Ter) c.2506G>T (p.Gly836Ter) c.2632G>T (p.Gly878Ter) c.1951G>T (p.Gly651Ter) n.2707G>T c.2881G>T (p.Gly961Ter) c.2776G>T (p.Gly926Ter) n.3382G>T | |
| 7 | g.87417383C>G | CA368061267 | ABCB4 | c.2611G>C (p.Gly871Arg) c.2506G>C (p.Gly836Arg) c.2632G>C (p.Gly878Arg) c.1951G>C (p.Gly651Arg) n.2707G>C c.2881G>C (p.Gly961Arg) c.2776G>C (p.Gly926Arg) n.3382G>C | |
| 7 | g.87417383C>T | CA368061263 | ABCB4 | c.2611G>A (p.Gly871Arg) c.2506G>A (p.Gly836Arg) c.2632G>A (p.Gly878Arg) c.1951G>A (p.Gly651Arg) n.2707G>A c.2881G>A (p.Gly961Arg) c.2776G>A (p.Gly926Arg) n.3382G>A | |
| 7 | g.87417384T>A | CA456358387 | ABCB4 | c.2610A>T (p.Ser870=) c.2505A>T (p.Ser835=) c.2631A>T (p.Ser877=) c.1950A>T (p.Ser650=) n.2706A>T c.2880A>T (p.Ser960=) c.2775A>T (p.Ser925=) n.3381A>T | |
| 7 | g.87417384T>C | CA456358388 | ABCB4 | c.2610A>G (p.Ser870=) c.2505A>G (p.Ser835=) c.2631A>G (p.Ser877=) c.1950A>G (p.Ser650=) n.2706A>G c.2880A>G (p.Ser960=) c.2775A>G (p.Ser925=) n.3381A>G | |
| 7 | g.87417384T>G | CA456358390 | ABCB4 | c.2610A>C (p.Ser870=) c.2505A>C (p.Ser835=) c.2631A>C (p.Ser877=) c.1950A>C (p.Ser650=) n.2706A>C c.2880A>C (p.Ser960=) c.2775A>C (p.Ser925=) n.3381A>C | |
| 7 | g.87417385G>A | CA368061269 | ABCB4 | c.2609C>T (p.Ser870Leu) c.2504C>T (p.Ser835Leu) c.2630C>T (p.Ser877Leu) c.1949C>T (p.Ser650Leu) n.2705C>T c.2879C>T (p.Ser960Leu) c.2774C>T (p.Ser925Leu) n.3380C>T | |
| 7 | g.87417385G>C | CA368061268 | ABCB4 | c.2609C>G (p.Ser870Ter) c.2504C>G (p.Ser835Ter) c.2630C>G (p.Ser877Ter) c.1949C>G (p.Ser650Ter) n.2705C>G c.2879C>G (p.Ser960Ter) c.2774C>G (p.Ser925Ter) n.3380C>G | ClinVar |
| 7 | g.87417385G>T | CA368061271 | ABCB4 | c.2609C>A (p.Ser870Ter) c.2504C>A (p.Ser835Ter) c.2630C>A (p.Ser877Ter) c.1949C>A (p.Ser650Ter) n.2705C>A c.2879C>A (p.Ser960Ter) c.2774C>A (p.Ser925Ter) n.3380C>A | |
| 7 | g.87417386A= | CA1723579440 | ABCB4 | c.2608T= (p.Ser870=) c.2503T= (p.Ser835=) c.2629T= (p.Ser877=) c.1948T= (p.Ser650=) n.2704T= c.2878T= (p.Ser960=) c.2773T= (p.Ser925=) n.3379T= | |
| 7 | g.87417386A>C | CA368061274 | ABCB4 | c.2608T>G (p.Ser870Ala) c.2503T>G (p.Ser835Ala) c.2629T>G (p.Ser877Ala) c.1948T>G (p.Ser650Ala) n.2704T>G c.2878T>G (p.Ser960Ala) c.2773T>G (p.Ser925Ala) n.3379T>G | dbSNP |
| 7 | g.87417386A>G | CA368061276 | ABCB4 | c.2608T>C (p.Ser870Pro) c.2503T>C (p.Ser835Pro) c.2629T>C (p.Ser877Pro) c.1948T>C (p.Ser650Pro) n.2704T>C c.2878T>C (p.Ser960Pro) c.2773T>C (p.Ser925Pro) n.3379T>C | COSMIC COSMIC |
| 7 | g.87417386A>T | CA368061275 | ABCB4 | c.2608T>A (p.Ser870Thr) c.2503T>A (p.Ser835Thr) c.2629T>A (p.Ser877Thr) c.1948T>A (p.Ser650Thr) n.2704T>A c.2878T>A (p.Ser960Thr) c.2773T>A (p.Ser925Thr) n.3379T>A | |
| 7 | g.87417387C>A | CA456358396 | ABCB4 | c.2607G>T (p.Val869=) c.2502G>T (p.Val834=) c.2628G>T (p.Val876=) c.1947G>T (p.Val649=) n.2703G>T c.2877G>T (p.Val959=) c.2772G>T (p.Val924=) n.3378G>T | |
| 7 | g.87417387C= | CA1723579443 | ABCB4 | c.2607G= (p.Val869=) c.2502G= (p.Val834=) c.2628G= (p.Val876=) c.1947G= (p.Val649=) n.2703G= c.2877G= (p.Val959=) c.2772G= (p.Val924=) n.3378G= | |
| 7 | g.87417387C>G | CA456358397 | ABCB4 | c.2607G>C (p.Val869=) c.2502G>C (p.Val834=) c.2628G>C (p.Val876=) c.1947G>C (p.Val649=) n.2703G>C c.2877G>C (p.Val959=) c.2772G>C (p.Val924=) n.3378G>C | |
| 7 | g.87417387C>T | CA4326976 | ABCB4 | c.2607G>A (p.Val869=) c.2502G>A (p.Val834=) c.2628G>A (p.Val876=) c.1947G>A (p.Val649=) n.2703G>A c.2877G>A (p.Val959=) c.2772G>A (p.Val924=) n.3378G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.87417388A= | CA1723579446 | ABCB4 | c.2606T= (p.Val869=) c.2501T= (p.Val834=) c.2627T= (p.Val876=) c.1946T= (p.Val649=) n.2702T= c.2876T= (p.Val959=) c.2771T= (p.Val924=) n.3377T= | |
| 7 | g.87417388A>C | CA162106131 | ABCB4 | c.2606T>G (p.Val869Gly) c.2501T>G (p.Val834Gly) c.2627T>G (p.Val876Gly) c.1946T>G (p.Val649Gly) n.2702T>G c.2876T>G (p.Val959Gly) c.2771T>G (p.Val924Gly) n.3377T>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.87417388A>G | CA368061278 | ABCB4 | c.2606T>C (p.Val869Ala) c.2501T>C (p.Val834Ala) c.2627T>C (p.Val876Ala) c.1946T>C (p.Val649Ala) n.2702T>C c.2876T>C (p.Val959Ala) c.2771T>C (p.Val924Ala) n.3377T>C | |
| 7 | g.87417388A>T | CA368061280 | ABCB4 | c.2606T>A (p.Val869Glu) c.2501T>A (p.Val834Glu) c.2627T>A (p.Val876Glu) c.1946T>A (p.Val649Glu) n.2702T>A c.2876T>A (p.Val959Glu) c.2771T>A (p.Val924Glu) n.3377T>A | |
| 7 | g.87417389C>A | CA368061282 | ABCB4 | c.2605G>T (p.Val869Leu) c.2500G>T (p.Val834Leu) c.2626G>T (p.Val876Leu) c.1945G>T (p.Val649Leu) n.2701G>T c.2875G>T (p.Val959Leu) c.2770G>T (p.Val924Leu) n.3376G>T | |
| 7 | g.87417389C>G | CA368061284 | ABCB4 | c.2605G>C (p.Val869Leu) c.2500G>C (p.Val834Leu) c.2626G>C (p.Val876Leu) c.1945G>C (p.Val649Leu) n.2701G>C c.2875G>C (p.Val959Leu) c.2770G>C (p.Val924Leu) n.3376G>C | |
| 7 | g.87417389C>T | CA368061285 | ABCB4 | c.2605G>A (p.Val869Met) c.2500G>A (p.Val834Met) c.2626G>A (p.Val876Met) c.1945G>A (p.Val649Met) n.2701G>A c.2875G>A (p.Val959Met) c.2770G>A (p.Val924Met) n.3376G>A | gnomAD v4 |
| 7 | g.87417390A>C | CA456358400 | ABCB4 | c.2604T>G (p.Ala868=) c.2499T>G (p.Ala833=) c.2625T>G (p.Ala875=) c.1944T>G (p.Ala648=) n.2700T>G c.2874T>G (p.Ala958=) c.2769T>G (p.Ala923=) n.3375T>G | |
| 7 | g.87417390A>G | CA456358402 | ABCB4 | c.2604T>C (p.Ala868=) c.2499T>C (p.Ala833=) c.2625T>C (p.Ala875=) c.1944T>C (p.Ala648=) n.2700T>C c.2874T>C (p.Ala958=) c.2769T>C (p.Ala923=) n.3375T>C | |
| 7 | g.87417390A>T | CA456358403 | ABCB4 | c.2604T>A (p.Ala868=) c.2499T>A (p.Ala833=) c.2625T>A (p.Ala875=) c.1944T>A (p.Ala648=) n.2700T>A c.2874T>A (p.Ala958=) c.2769T>A (p.Ala923=) n.3375T>A | |
| 7 | g.87417391G>A | CA368061287 | ABCB4 | c.2603C>T (p.Ala868Val) c.2498C>T (p.Ala833Val) c.2624C>T (p.Ala875Val) c.1943C>T (p.Ala648Val) n.2699C>T c.2873C>T (p.Ala958Val) c.2768C>T (p.Ala923Val) n.3374C>T | |
| 7 | g.87417391G>C | CA368061289 | ABCB4 | c.2603C>G (p.Ala868Gly) c.2498C>G (p.Ala833Gly) c.2624C>G (p.Ala875Gly) c.1943C>G (p.Ala648Gly) n.2699C>G c.2873C>G (p.Ala958Gly) c.2768C>G (p.Ala923Gly) n.3374C>G | |
| 7 | g.87417391G>T | CA368061290 | ABCB4 | c.2603C>A (p.Ala868Asp) c.2498C>A (p.Ala833Asp) c.2624C>A (p.Ala875Asp) c.1943C>A (p.Ala648Asp) n.2699C>A c.2873C>A (p.Ala958Asp) c.2768C>A (p.Ala923Asp) n.3374C>A | |
| 7 | g.87417392C>A | CA368061296 | ABCB4 | c.2602G>T (p.Ala868Ser) c.2497G>T (p.Ala833Ser) c.2623G>T (p.Ala875Ser) c.1942G>T (p.Ala648Ser) n.2698G>T c.2872G>T (p.Ala958Ser) c.2767G>T (p.Ala923Ser) n.3373G>T | gnomAD v4 |
| 7 | g.87417392C>G | CA368061294 | ABCB4 | c.2602G>C (p.Ala868Pro) c.2497G>C (p.Ala833Pro) c.2623G>C (p.Ala875Pro) c.1942G>C (p.Ala648Pro) n.2698G>C c.2872G>C (p.Ala958Pro) c.2767G>C (p.Ala923Pro) n.3373G>C | |
| 7 | g.87417392C>T | CA368061292 | ABCB4 | c.2602G>A (p.Ala868Thr) c.2497G>A (p.Ala833Thr) c.2623G>A (p.Ala875Thr) c.1942G>A (p.Ala648Thr) n.2698G>A c.2872G>A (p.Ala958Thr) c.2767G>A (p.Ala923Thr) n.3373G>A | |
| 7 | g.87417393A>C | CA368061297 | ABCB4 | c.2601T>G (p.Ile867Met) c.2496T>G (p.Ile832Met) c.2622T>G (p.Ile874Met) c.1941T>G (p.Ile647Met) n.2697T>G c.2871T>G (p.Ile957Met) c.2766T>G (p.Ile922Met) n.3372T>G | |
| 7 | g.87417393A>G | CA456358412 | ABCB4 | c.2601T>C (p.Ile867=) c.2496T>C (p.Ile832=) c.2622T>C (p.Ile874=) c.1941T>C (p.Ile647=) n.2697T>C c.2871T>C (p.Ile957=) c.2766T>C (p.Ile922=) n.3372T>C | |
| 7 | g.87417393A>T | CA456358411 | ABCB4 | c.2601T>A (p.Ile867=) c.2496T>A (p.Ile832=) c.2622T>A (p.Ile874=) c.1941T>A (p.Ile647=) n.2697T>A c.2871T>A (p.Ile957=) c.2766T>A (p.Ile922=) n.3372T>A | |
| 7 | g.87417394A= | CA1723579449 | ABCB4 | c.2600T= (p.Ile867=) c.2495T= (p.Ile832=) c.2621T= (p.Ile874=) c.1940T= (p.Ile647=) n.2696T= c.2870T= (p.Ile957=) c.2765T= (p.Ile922=) n.3371T= | |
| 7 | g.87417394A>C | CA368061299 | ABCB4 | c.2600T>G (p.Ile867Ser) c.2495T>G (p.Ile832Ser) c.2621T>G (p.Ile874Ser) c.1940T>G (p.Ile647Ser) n.2696T>G c.2870T>G (p.Ile957Ser) c.2765T>G (p.Ile922Ser) n.3371T>G | |
| 7 | g.87417394A>G | CA162106133 | ABCB4 | c.2600T>C (p.Ile867Thr) c.2495T>C (p.Ile832Thr) c.2621T>C (p.Ile874Thr) c.1940T>C (p.Ile647Thr) n.2696T>C c.2870T>C (p.Ile957Thr) c.2765T>C (p.Ile922Thr) n.3371T>C | dbSNP gnomAD v4 |
| 7 | g.87417394A>T | CA368061302 | ABCB4 | c.2600T>A (p.Ile867Asn) c.2495T>A (p.Ile832Asn) c.2621T>A (p.Ile874Asn) c.1940T>A (p.Ile647Asn) n.2696T>A c.2870T>A (p.Ile957Asn) c.2765T>A (p.Ile922Asn) n.3371T>A | |
| 7 | g.87417395T>A | CA368061303 | ABCB4 | c.2599A>T (p.Ile867Phe) c.2494A>T (p.Ile832Phe) c.2620A>T (p.Ile874Phe) c.1939A>T (p.Ile647Phe) n.2695A>T c.2869A>T (p.Ile957Phe) c.2764A>T (p.Ile922Phe) n.3370A>T | gnomAD v4 |
| 7 | g.87417395T>C | CA368061304 | ABCB4 | c.2599A>G (p.Ile867Val) c.2494A>G (p.Ile832Val) c.2620A>G (p.Ile874Val) c.1939A>G (p.Ile647Val) n.2695A>G c.2869A>G (p.Ile957Val) c.2764A>G (p.Ile922Val) n.3370A>G | gnomAD v4 |
| 7 | g.87417395T>G | CA368061306 | ABCB4 | c.2599A>C (p.Ile867Leu) c.2494A>C (p.Ile832Leu) c.2620A>C (p.Ile874Leu) c.1939A>C (p.Ile647Leu) n.2695A>C c.2869A>C (p.Ile957Leu) c.2764A>C (p.Ile922Leu) n.3370A>C | |
| 7 | g.87417396A= | CA1723579451 | ABCB4 | c.2598T= (p.Ile866=) c.2493T= (p.Ile831=) c.2619T= (p.Ile873=) c.1938T= (p.Ile646=) n.2694T= c.2868T= (p.Ile956=) c.2763T= (p.Ile921=) n.3369T= | |
| 7 | g.87417396A>C | CA368061308 | ABCB4 | c.2598T>G (p.Ile866Met) c.2493T>G (p.Ile831Met) c.2619T>G (p.Ile873Met) c.1938T>G (p.Ile646Met) n.2694T>G c.2868T>G (p.Ile956Met) c.2763T>G (p.Ile921Met) n.3369T>G | |
| 7 | g.87417396A>G | CA456358420 | ABCB4 | c.2598T>C (p.Ile866=) c.2493T>C (p.Ile831=) c.2619T>C (p.Ile873=) c.1938T>C (p.Ile646=) n.2694T>C c.2868T>C (p.Ile956=) c.2763T>C (p.Ile921=) n.3369T>C | dbSNP |
| 7 | g.87417396A>T | CA456358421 | ABCB4 | c.2598T>A (p.Ile866=) c.2493T>A (p.Ile831=) c.2619T>A (p.Ile873=) c.1938T>A (p.Ile646=) n.2694T>A c.2868T>A (p.Ile956=) c.2763T>A (p.Ile921=) n.3369T>A | |
| 7 | g.87417397A= | CA1723579455 | ABCB4 | c.2597T= (p.Ile866=) c.2492T= (p.Ile831=) c.2618T= (p.Ile873=) c.1937T= (p.Ile646=) n.2693T= c.2867T= (p.Ile956=) c.2762T= (p.Ile921=) n.3368T= | |
| 7 | g.87417397A>C | CA368061310 | ABCB4 | c.2597T>G (p.Ile866Ser) c.2492T>G (p.Ile831Ser) c.2618T>G (p.Ile873Ser) c.1937T>G (p.Ile646Ser) n.2693T>G c.2867T>G (p.Ile956Ser) c.2762T>G (p.Ile921Ser) n.3368T>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.87417397A>G | CA4326977 | ABCB4 | c.2597T>C (p.Ile866Thr) c.2492T>C (p.Ile831Thr) c.2618T>C (p.Ile873Thr) c.1937T>C (p.Ile646Thr) n.2693T>C c.2867T>C (p.Ile956Thr) c.2762T>C (p.Ile921Thr) n.3368T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.87417397A>T | CA368061312 | ABCB4 | c.2597T>A (p.Ile866Asn) c.2492T>A (p.Ile831Asn) c.2618T>A (p.Ile873Asn) c.1937T>A (p.Ile646Asn) n.2693T>A c.2867T>A (p.Ile956Asn) c.2762T>A (p.Ile921Asn) n.3368T>A | |
| 7 | g.87417398T>A | CA368061316 | ABCB4 | c.2596A>T (p.Ile866Phe) c.2491A>T (p.Ile831Phe) c.2617A>T (p.Ile873Phe) c.1936A>T (p.Ile646Phe) n.2692A>T c.2866A>T (p.Ile956Phe) c.2761A>T (p.Ile921Phe) n.3367A>T | dbSNP gnomAD v4 |
| 7 | g.87417398T>C | CA4326978 | ABCB4 | c.2596A>G (p.Ile866Val) c.2491A>G (p.Ile831Val) c.2617A>G (p.Ile873Val) c.1936A>G (p.Ile646Val) n.2692A>G c.2866A>G (p.Ile956Val) c.2761A>G (p.Ile921Val) n.3367A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.87417398T>G | CA368061314 | ABCB4 | c.2596A>C (p.Ile866Leu) c.2491A>C (p.Ile831Leu) c.2617A>C (p.Ile873Leu) c.1936A>C (p.Ile646Leu) n.2692A>C c.2866A>C (p.Ile956Leu) c.2761A>C (p.Ile921Leu) n.3367A>C | dbSNP gnomAD v2 |
| 7 | g.87417398T= | CA1723579459 | ABCB4 | c.2596A= (p.Ile866=) c.2491A= (p.Ile831=) c.2617A= (p.Ile873=) c.1936A= (p.Ile646=) n.2692A= c.2866A= (p.Ile956=) c.2761A= (p.Ile921=) n.3367A= | |
| 7 | g.87417399T>A | CA456358427 | ABCB4 | c.2595A>T (p.Pro865=) c.2490A>T (p.Pro830=) c.2616A>T (p.Pro872=) c.1935A>T (p.Pro645=) n.2691A>T c.2865A>T (p.Pro955=) c.2760A>T (p.Pro920=) n.3366A>T | |
| 7 | g.87417399T>C | CA456358428 | ABCB4 | c.2595A>G (p.Pro865=) c.2490A>G (p.Pro830=) c.2616A>G (p.Pro872=) c.1935A>G (p.Pro645=) n.2691A>G c.2865A>G (p.Pro955=) c.2760A>G (p.Pro920=) n.3366A>G | |
| 7 | g.87417399T>G | CA456358429 | ABCB4 | c.2595A>C (p.Pro865=) c.2490A>C (p.Pro830=) c.2616A>C (p.Pro872=) c.1935A>C (p.Pro645=) n.2691A>C c.2865A>C (p.Pro955=) c.2760A>C (p.Pro920=) n.3366A>C | |
| 7 | g.87417400G>A | CA368061317 | ABCB4 | c.2594C>T (p.Pro865Leu) c.2489C>T (p.Pro830Leu) c.2615C>T (p.Pro872Leu) c.1934C>T (p.Pro645Leu) n.2690C>T c.2864C>T (p.Pro955Leu) c.2759C>T (p.Pro920Leu) n.3365C>T | COSMIC COSMIC |
| 7 | g.87417400G>C | CA368061318 | ABCB4 | c.2594C>G (p.Pro865Arg) c.2489C>G (p.Pro830Arg) c.2615C>G (p.Pro872Arg) c.1934C>G (p.Pro645Arg) n.2690C>G c.2864C>G (p.Pro955Arg) c.2759C>G (p.Pro920Arg) n.3365C>G | |
| 7 | g.87417400G>T | CA368061319 | ABCB4 | c.2594C>A (p.Pro865Gln) c.2489C>A (p.Pro830Gln) c.2615C>A (p.Pro872Gln) c.1934C>A (p.Pro645Gln) n.2690C>A c.2864C>A (p.Pro955Gln) c.2759C>A (p.Pro920Gln) n.3365C>A | |
| 7 | g.87417401G>A | CA368061320 | ABCB4 | c.2593C>T (p.Pro865Ser) c.2488C>T (p.Pro830Ser) c.2614C>T (p.Pro872Ser) c.1933C>T (p.Pro645Ser) n.2689C>T c.2863C>T (p.Pro955Ser) c.2758C>T (p.Pro920Ser) n.3364C>T | |
| 7 | g.87417401G>C | CA368061322 | ABCB4 | c.2593C>G (p.Pro865Ala) c.2488C>G (p.Pro830Ala) c.2614C>G (p.Pro872Ala) c.1933C>G (p.Pro645Ala) n.2689C>G c.2863C>G (p.Pro955Ala) c.2758C>G (p.Pro920Ala) n.3364C>G | |
| 7 | g.87417401G>T | CA368061323 | ABCB4 | c.2593C>A (p.Pro865Thr) c.2488C>A (p.Pro830Thr) c.2614C>A (p.Pro872Thr) c.1933C>A (p.Pro645Thr) n.2689C>A c.2863C>A (p.Pro955Thr) c.2758C>A (p.Pro920Thr) n.3364C>A | |
| 7 | g.87417402A>C | CA456358435 | ABCB4 | c.2592T>G (p.Val864=) c.2487T>G (p.Val829=) c.2613T>G (p.Val871=) c.1932T>G (p.Val644=) n.2688T>G c.2862T>G (p.Val954=) c.2757T>G (p.Val919=) n.3363T>G | |
| 7 | g.87417402A>G | CA456358437 | ABCB4 | c.2592T>C (p.Val864=) c.2487T>C (p.Val829=) c.2613T>C (p.Val871=) c.1932T>C (p.Val644=) n.2688T>C c.2862T>C (p.Val954=) c.2757T>C (p.Val919=) n.3363T>C | |
| 7 | g.87417402A>T | CA456358438 | ABCB4 | c.2592T>A (p.Val864=) c.2487T>A (p.Val829=) c.2613T>A (p.Val871=) c.1932T>A (p.Val644=) n.2688T>A c.2862T>A (p.Val954=) c.2757T>A (p.Val919=) n.3363T>A | |
| 7 | g.87417403A= | CA1723579465 | ABCB4 | c.2591T= (p.Val864=) c.2486T= (p.Val829=) c.2612T= (p.Val871=) c.1931T= (p.Val644=) n.2687T= c.2861T= (p.Val954=) c.2756T= (p.Val919=) n.3362T= | |
| 7 | g.87417403A>C | CA368061325 | ABCB4 | c.2591T>G (p.Val864Gly) c.2486T>G (p.Val829Gly) c.2612T>G (p.Val871Gly) c.1931T>G (p.Val644Gly) n.2687T>G c.2861T>G (p.Val954Gly) c.2756T>G (p.Val919Gly) n.3362T>G | |
| 7 | g.87417403A>G | CA368061326 | ABCB4 | c.2591T>C (p.Val864Ala) c.2486T>C (p.Val829Ala) c.2612T>C (p.Val871Ala) c.1931T>C (p.Val644Ala) n.2687T>C c.2861T>C (p.Val954Ala) c.2756T>C (p.Val919Ala) n.3362T>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.87417403A>T | CA368061328 | ABCB4 | c.2591T>A (p.Val864Asp) c.2486T>A (p.Val829Asp) c.2612T>A (p.Val871Asp) c.1931T>A (p.Val644Asp) n.2687T>A c.2861T>A (p.Val954Asp) c.2756T>A (p.Val919Asp) n.3362T>A | |
| 7 | g.87417403_87417407delinsGATCAGACACACTTTCAATCAGTGTTTAACACTGAT | CA2580615909 | ABCB4 | c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC (p.Val863IlefsTer6) c.2482_2486delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC (p.Val828IlefsTer6) c.2608_2612delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC (p.Val870IlefsTer6) c.1927_1931delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC (p.Val643IlefsTer6) n.2683_2687delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC c.2857_2861delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC (p.Val953IlefsTer6) c.2752_2756delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC (p.Val918IlefsTer6) n.3358_3362delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC | ClinVar |
| 7 | g.87417404C>A | CA368061330 | ABCB4 | c.2590G>T (p.Val864Phe) c.2485G>T (p.Val829Phe) c.2611G>T (p.Val871Phe) c.1930G>T (p.Val644Phe) n.2686G>T c.2860G>T (p.Val954Phe) c.2755G>T (p.Val919Phe) n.3361G>T | ClinVar dbSNP |
| 7 | g.87417404C= | CA1723579469 | ABCB4 | c.2590G= (p.Val864=) c.2485G= (p.Val829=) c.2611G= (p.Val871=) c.1930G= (p.Val644=) n.2686G= c.2860G= (p.Val954=) c.2755G= (p.Val919=) n.3361G= | |
| 7 | g.87417404C>G | CA4326979 | ABCB4 | c.2590G>C (p.Val864Leu) c.2485G>C (p.Val829Leu) c.2611G>C (p.Val871Leu) c.1930G>C (p.Val644Leu) n.2686G>C c.2860G>C (p.Val954Leu) c.2755G>C (p.Val919Leu) n.3361G>C | dbSNP ExAC gnomAD v2 |
| 7 | g.87417404C>T | CA368061332 | ABCB4 | c.2590G>A (p.Val864Ile) c.2485G>A (p.Val829Ile) c.2611G>A (p.Val871Ile) c.1930G>A (p.Val644Ile) n.2686G>A c.2860G>A (p.Val954Ile) c.2755G>A (p.Val919Ile) n.3361G>A | gnomAD v4 |
| 7 | g.87417405A>C | CA456358445 | ABCB4 | c.2589T>G (p.Val863=) c.2484T>G (p.Val828=) c.2610T>G (p.Val870=) c.1929T>G (p.Val643=) n.2685T>G c.2859T>G (p.Val953=) c.2754T>G (p.Val918=) n.3360T>G | |
| 7 | g.87417405A>G | CA456358446 | ABCB4 | c.2589T>C (p.Val863=) c.2484T>C (p.Val828=) c.2610T>C (p.Val870=) c.1929T>C (p.Val643=) n.2685T>C c.2859T>C (p.Val953=) c.2754T>C (p.Val918=) n.3360T>C | |
| 7 | g.87417405A>T | CA456358447 | ABCB4 | c.2589T>A (p.Val863=) c.2484T>A (p.Val828=) c.2610T>A (p.Val870=) c.1929T>A (p.Val643=) n.2685T>A c.2859T>A (p.Val953=) c.2754T>A (p.Val918=) n.3360T>A | |
| 7 | g.87417406A>C | CA368061335 | ABCB4 | c.2588T>G (p.Val863Gly) c.2483T>G (p.Val828Gly) c.2609T>G (p.Val870Gly) c.1928T>G (p.Val643Gly) n.2684T>G c.2858T>G (p.Val953Gly) c.2753T>G (p.Val918Gly) n.3359T>G | |
| 7 | g.87417406A>G | CA368061336 | ABCB4 | c.2588T>C (p.Val863Ala) c.2483T>C (p.Val828Ala) c.2609T>C (p.Val870Ala) c.1928T>C (p.Val643Ala) n.2684T>C c.2858T>C (p.Val953Ala) c.2753T>C (p.Val918Ala) n.3359T>C | |
| 7 | g.87417406A>T | CA368061334 | ABCB4 | c.2588T>A (p.Val863Asp) c.2483T>A (p.Val828Asp) c.2609T>A (p.Val870Asp) c.1928T>A (p.Val643Asp) n.2684T>A c.2858T>A (p.Val953Asp) c.2753T>A (p.Val918Asp) n.3359T>A | |
| 7 | g.87417407C>A | CA368061338 | ABCB4 | c.2587G>T (p.Val863Phe) c.2482G>T (p.Val828Phe) c.2608G>T (p.Val870Phe) c.1927G>T (p.Val643Phe) n.2683G>T c.2857G>T (p.Val953Phe) c.2752G>T (p.Val918Phe) n.3358G>T | |
| 7 | g.87417407C>G | CA368061339 | ABCB4 | c.2587G>C (p.Val863Leu) c.2482G>C (p.Val828Leu) c.2608G>C (p.Val870Leu) c.1927G>C (p.Val643Leu) n.2683G>C c.2857G>C (p.Val953Leu) c.2752G>C (p.Val918Leu) n.3358G>C | |
| 7 | g.87417407C>T | CA368061340 | ABCB4 | c.2587G>A (p.Val863Ile) c.2482G>A (p.Val828Ile) c.2608G>A (p.Val870Ile) c.1927G>A (p.Val643Ile) n.2683G>A c.2857G>A (p.Val953Ile) c.2752G>A (p.Val918Ile) n.3358G>A | |
| 7 | g.87417408T>A | CA456358452 | ABCB4 | c.2586A>T (p.Ala862=) c.2481A>T (p.Ala827=) c.2607A>T (p.Ala869=) c.1926A>T (p.Ala642=) n.2682A>T c.2856A>T (p.Ala952=) c.2751A>T (p.Ala917=) n.3357A>T | |
| 7 | g.87417408T>C | CA456358453 | ABCB4 | c.2586A>G (p.Ala862=) c.2481A>G (p.Ala827=) c.2607A>G (p.Ala869=) c.1926A>G (p.Ala642=) n.2682A>G c.2856A>G (p.Ala952=) c.2751A>G (p.Ala917=) n.3357A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.87417408T>G | CA456358454 | ABCB4 | c.2586A>C (p.Ala862=) c.2481A>C (p.Ala827=) c.2607A>C (p.Ala869=) c.1926A>C (p.Ala642=) n.2682A>C c.2856A>C (p.Ala952=) c.2751A>C (p.Ala917=) n.3357A>C | |
| 7 | g.87417408T= | CA1723579475 | ABCB4 | c.2586A= (p.Ala862=) c.2481A= (p.Ala827=) c.2607A= (p.Ala869=) c.1926A= (p.Ala642=) n.2682A= c.2856A= (p.Ala952=) c.2751A= (p.Ala917=) n.3357A= | |
| 7 | g.87417409G>A | CA368061342 | ABCB4 | c.2585C>T (p.Ala862Val) c.2480C>T (p.Ala827Val) c.2606C>T (p.Ala869Val) c.1925C>T (p.Ala642Val) n.2681C>T c.2855C>T (p.Ala952Val) c.2750C>T (p.Ala917Val) n.3356C>T | dbSNP gnomAD v4 |
| 7 | g.87417409G>C | CA368061344 | ABCB4 | c.2585C>G (p.Ala862Gly) c.2480C>G (p.Ala827Gly) c.2606C>G (p.Ala869Gly) c.1925C>G (p.Ala642Gly) n.2681C>G c.2855C>G (p.Ala952Gly) c.2750C>G (p.Ala917Gly) n.3356C>G | |
| 7 | g.87417409G= | CA1723579480 | ABCB4 | c.2585C= (p.Ala862=) c.2480C= (p.Ala827=) c.2606C= (p.Ala869=) c.1925C= (p.Ala642=) n.2681C= c.2855C= (p.Ala952=) c.2750C= (p.Ala917=) n.3356C= | |
| 7 | g.87417409G>T | CA368061346 | ABCB4 | c.2585C>A (p.Ala862Glu) c.2480C>A (p.Ala827Glu) c.2606C>A (p.Ala869Glu) c.1925C>A (p.Ala642Glu) n.2681C>A c.2855C>A (p.Ala952Glu) c.2750C>A (p.Ala917Glu) n.3356C>A | gnomAD v4 |
| 7 | g.87417410C>A | CA368061348 | ABCB4 | c.2584G>T (p.Ala862Ser) c.2479G>T (p.Ala827Ser) c.2605G>T (p.Ala869Ser) c.1924G>T (p.Ala642Ser) n.2680G>T c.2854G>T (p.Ala952Ser) c.2749G>T (p.Ala917Ser) n.3355G>T | dbSNP |
| 7 | g.87417410C= | CA1723579483 | ABCB4 | c.2584G= (p.Ala862=) c.2479G= (p.Ala827=) c.2605G= (p.Ala869=) c.1924G= (p.Ala642=) n.2680G= c.2854G= (p.Ala952=) c.2749G= (p.Ala917=) n.3355G= | |
| 7 | g.87417410C>G | CA368061351 | ABCB4 | c.2584G>C (p.Ala862Pro) c.2479G>C (p.Ala827Pro) c.2605G>C (p.Ala869Pro) c.1924G>C (p.Ala642Pro) n.2680G>C c.2854G>C (p.Ala952Pro) c.2749G>C (p.Ala917Pro) n.3355G>C | |
| 7 | g.87417410C>T | CA368061349 | ABCB4 | c.2584G>A (p.Ala862Thr) c.2479G>A (p.Ala827Thr) c.2605G>A (p.Ala869Thr) c.1924G>A (p.Ala642Thr) n.2680G>A c.2854G>A (p.Ala952Thr) c.2749G>A (p.Ala917Thr) n.3355G>A | |
| 7 | g.87417411T>A | CA368061352 | ABCB4 | c.2583A>T (p.Leu861Phe) c.2478A>T (p.Leu826Phe) c.2604A>T (p.Leu868Phe) c.1923A>T (p.Leu641Phe) n.2679A>T c.2853A>T (p.Leu951Phe) c.2748A>T (p.Leu916Phe) n.3354A>T | |
| 7 | g.87417411T>C | CA456358458 | ABCB4 | c.2583A>G (p.Leu861=) c.2478A>G (p.Leu826=) c.2604A>G (p.Leu868=) c.1923A>G (p.Leu641=) n.2679A>G c.2853A>G (p.Leu951=) c.2748A>G (p.Leu916=) n.3354A>G | |
| 7 | g.87417411T>G | CA368061353 | ABCB4 | c.2583A>C (p.Leu861Phe) c.2478A>C (p.Leu826Phe) c.2604A>C (p.Leu868Phe) c.1923A>C (p.Leu641Phe) n.2679A>C c.2853A>C (p.Leu951Phe) c.2748A>C (p.Leu916Phe) n.3354A>C | |
| 7 | g.87417412A>C | CA368061356 | ABCB4 | c.2582T>G (p.Leu861Ter) c.2477T>G (p.Leu826Ter) c.2603T>G (p.Leu868Ter) c.1922T>G (p.Leu641Ter) n.2678T>G c.2852T>G (p.Leu951Ter) c.2747T>G (p.Leu916Ter) n.3353T>G | |
| 7 | g.87417412A>G | CA368061357 | ABCB4 | c.2582T>C (p.Leu861Ser) c.2477T>C (p.Leu826Ser) c.2603T>C (p.Leu868Ser) c.1922T>C (p.Leu641Ser) n.2678T>C c.2852T>C (p.Leu951Ser) c.2747T>C (p.Leu916Ser) n.3353T>C | |
| 7 | g.87417412A>T | CA368061359 | ABCB4 | c.2582T>A (p.Leu861Ter) c.2477T>A (p.Leu826Ter) c.2603T>A (p.Leu868Ter) c.1922T>A (p.Leu641Ter) n.2678T>A c.2852T>A (p.Leu951Ter) c.2747T>A (p.Leu916Ter) n.3353T>A | |
| 7 | g.87417413A= | CA1723579489 | ABCB4 | c.2581T= (p.Leu861=) c.2476T= (p.Leu826=) c.2602T= (p.Leu868=) c.1921T= (p.Leu641=) n.2677T= c.2851T= (p.Leu951=) c.2746T= (p.Leu916=) n.3352T= | |
| 7 | g.87417413A>C | CA4326980 | ABCB4 | c.2581T>G (p.Leu861Val) c.2476T>G (p.Leu826Val) c.2602T>G (p.Leu868Val) c.1921T>G (p.Leu641Val) n.2677T>G c.2851T>G (p.Leu951Val) c.2746T>G (p.Leu916Val) n.3352T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417413A>G | CA456358461 | ABCB4 | c.2581T>C (p.Leu861=) c.2476T>C (p.Leu826=) c.2602T>C (p.Leu868=) c.1921T>C (p.Leu641=) n.2677T>C c.2851T>C (p.Leu951=) c.2746T>C (p.Leu916=) n.3352T>C | |
| 7 | g.87417413A>T | CA368061360 | ABCB4 | c.2581T>A (p.Leu861Ile) c.2476T>A (p.Leu826Ile) c.2602T>A (p.Leu868Ile) c.1921T>A (p.Leu641Ile) n.2677T>A c.2851T>A (p.Leu951Ile) c.2746T>A (p.Leu916Ile) n.3352T>A | |
| 7 | g.87417414T>A | CA456358465 | ABCB4 | c.2580A>T (p.Leu860=) c.2475A>T (p.Leu825=) c.2601A>T (p.Leu867=) c.1920A>T (p.Leu640=) n.2676A>T c.2850A>T (p.Leu950=) c.2745A>T (p.Leu915=) n.3351A>T | |
| 7 | g.87417414T>C | CA456358467 | ABCB4 | c.2580A>G (p.Leu860=) c.2475A>G (p.Leu825=) c.2601A>G (p.Leu867=) c.1920A>G (p.Leu640=) n.2676A>G c.2850A>G (p.Leu950=) c.2745A>G (p.Leu915=) n.3351A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.87417414T>G | CA456358470 | ABCB4 | c.2580A>C (p.Leu860=) c.2475A>C (p.Leu825=) c.2601A>C (p.Leu867=) c.1920A>C (p.Leu640=) n.2676A>C c.2850A>C (p.Leu950=) c.2745A>C (p.Leu915=) n.3351A>C | ClinVar |
| 7 | g.87417414T= | CA1723579492 | ABCB4 | c.2580A= (p.Leu860=) c.2475A= (p.Leu825=) c.2601A= (p.Leu867=) c.1920A= (p.Leu640=) n.2676A= c.2850A= (p.Leu950=) c.2745A= (p.Leu915=) n.3351A= | |
| 7 | g.87417415A>C | CA368061363 | ABCB4 | c.2579T>G (p.Leu860Arg) c.2474T>G (p.Leu825Arg) c.2600T>G (p.Leu867Arg) c.1919T>G (p.Leu640Arg) n.2675T>G c.2849T>G (p.Leu950Arg) c.2744T>G (p.Leu915Arg) n.3350T>G | |
| 7 | g.87417415A>G | CA368061366 | ABCB4 | c.2579T>C (p.Leu860Pro) c.2474T>C (p.Leu825Pro) c.2600T>C (p.Leu867Pro) c.1919T>C (p.Leu640Pro) n.2675T>C c.2849T>C (p.Leu950Pro) c.2744T>C (p.Leu915Pro) n.3350T>C | |
| 7 | g.87417415A>T | CA368061364 | ABCB4 | c.2579T>A (p.Leu860Gln) c.2474T>A (p.Leu825Gln) c.2600T>A (p.Leu867Gln) c.1919T>A (p.Leu640Gln) n.2675T>A c.2849T>A (p.Leu950Gln) c.2744T>A (p.Leu915Gln) n.3350T>A | |
| 7 | g.87417416G>A | CA456358471 | ABCB4 | c.2578C>T (p.Leu860=) c.2473C>T (p.Leu825=) c.2599C>T (p.Leu867=) c.1918C>T (p.Leu640=) n.2674C>T c.2848C>T (p.Leu950=) c.2743C>T (p.Leu915=) n.3349C>T | gnomAD v4 |
| 7 | g.87417416G>C | CA368061367 | ABCB4 | c.2578C>G (p.Leu860Val) c.2473C>G (p.Leu825Val) c.2599C>G (p.Leu867Val) c.1918C>G (p.Leu640Val) n.2674C>G c.2848C>G (p.Leu950Val) c.2743C>G (p.Leu915Val) n.3349C>G | |
| 7 | g.87417416G>T | CA368061369 | ABCB4 | c.2578C>A (p.Leu860Ile) c.2473C>A (p.Leu825Ile) c.2599C>A (p.Leu867Ile) c.1918C>A (p.Leu640Ile) n.2674C>A c.2848C>A (p.Leu950Ile) c.2743C>A (p.Leu915Ile) n.3349C>A | |
| 7 | g.87417417C>A | CA368061371 | ABCB4 | c.2577G>T (p.Leu859Phe) c.2472G>T (p.Leu824Phe) c.2598G>T (p.Leu866Phe) c.1917G>T (p.Leu639Phe) n.2673G>T c.2847G>T (p.Leu949Phe) c.2742G>T (p.Leu914Phe) n.3348G>T | gnomAD v4 |
| 7 | g.87417417C>G | CA368061372 | ABCB4 | c.2577G>C (p.Leu859Phe) c.2472G>C (p.Leu824Phe) c.2598G>C (p.Leu866Phe) c.1917G>C (p.Leu639Phe) n.2673G>C c.2847G>C (p.Leu949Phe) c.2742G>C (p.Leu914Phe) n.3348G>C | |
| 7 | g.87417417C>T | CA456358472 | ABCB4 | c.2577G>A (p.Leu859=) c.2472G>A (p.Leu824=) c.2598G>A (p.Leu866=) c.1917G>A (p.Leu639=) n.2673G>A c.2847G>A (p.Leu949=) c.2742G>A (p.Leu914=) n.3348G>A | |
| 7 | g.87417418A= | CA1723579497 | ABCB4 | c.2576T= (p.Leu859=) c.2471T= (p.Leu824=) c.2597T= (p.Leu866=) c.1916T= (p.Leu639=) n.2672T= c.2846T= (p.Leu949=) c.2741T= (p.Leu914=) n.3347T= | |
| 7 | g.87417418A>C | CA368061374 | ABCB4 | c.2576T>G (p.Leu859Trp) c.2471T>G (p.Leu824Trp) c.2597T>G (p.Leu866Trp) c.1916T>G (p.Leu639Trp) n.2672T>G c.2846T>G (p.Leu949Trp) c.2741T>G (p.Leu914Trp) n.3347T>G | |
| 7 | g.87417418A>G | CA4326981 | ABCB4 | c.2576T>C (p.Leu859Ser) c.2471T>C (p.Leu824Ser) c.2597T>C (p.Leu866Ser) c.1916T>C (p.Leu639Ser) n.2672T>C c.2846T>C (p.Leu949Ser) c.2741T>C (p.Leu914Ser) n.3347T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.87417418A>T | CA368061375 | ABCB4 | c.2576T>A (p.Leu859Ter) c.2471T>A (p.Leu824Ter) c.2597T>A (p.Leu866Ter) c.1916T>A (p.Leu639Ter) n.2672T>A c.2846T>A (p.Leu949Ter) c.2741T>A (p.Leu914Ter) n.3347T>A | |
| 7 | g.87417419A= | CA1723579501 | ABCB4 | c.2575T= (p.Leu859=) c.2470T= (p.Leu824=) c.2596T= (p.Leu866=) c.1915T= (p.Leu639=) n.2671T= c.2845T= (p.Leu949=) c.2740T= (p.Leu914=) n.3346T= | |
| 7 | g.87417419A>C | CA368061377 | ABCB4 | c.2575T>G (p.Leu859Val) c.2470T>G (p.Leu824Val) c.2596T>G (p.Leu866Val) c.1915T>G (p.Leu639Val) n.2671T>G c.2845T>G (p.Leu949Val) c.2740T>G (p.Leu914Val) n.3346T>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.87417419A>G | CA4326982 | ABCB4 | c.2575T>C (p.Leu859=) c.2470T>C (p.Leu824=) c.2596T>C (p.Leu866=) c.1915T>C (p.Leu639=) n.2671T>C c.2845T>C (p.Leu949=) c.2740T>C (p.Leu914=) n.3346T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417419A>T | CA368061379 | ABCB4 | c.2575T>A (p.Leu859Met) c.2470T>A (p.Leu824Met) c.2596T>A (p.Leu866Met) c.1915T>A (p.Leu639Met) n.2671T>A c.2845T>A (p.Leu949Met) c.2740T>A (p.Leu914Met) n.3346T>A | gnomAD v4 |
| 7 | g.87417420T>A | CA456358477 | ABCB4 | c.2574A>T (p.Leu858=) c.2469A>T (p.Leu823=) c.2595A>T (p.Leu865=) c.1914A>T (p.Leu638=) n.2670A>T c.2844A>T (p.Leu948=) c.2739A>T (p.Leu913=) n.3345A>T | dbSNP |
| 7 | g.87417420T>C | CA456358482 | ABCB4 | c.2574A>G (p.Leu858=) c.2469A>G (p.Leu823=) c.2595A>G (p.Leu865=) c.1914A>G (p.Leu638=) n.2670A>G c.2844A>G (p.Leu948=) c.2739A>G (p.Leu913=) n.3345A>G | |
| 7 | g.87417420T>G | CA456358484 | ABCB4 | c.2574A>C (p.Leu858=) c.2469A>C (p.Leu823=) c.2595A>C (p.Leu865=) c.1914A>C (p.Leu638=) n.2670A>C c.2844A>C (p.Leu948=) c.2739A>C (p.Leu913=) n.3345A>C | |
| 7 | g.87417420T= | CA1723579524 | ABCB4 | c.2574A= (p.Leu858=) c.2469A= (p.Leu823=) c.2595A= (p.Leu865=) c.1914A= (p.Leu638=) n.2670A= c.2844A= (p.Leu948=) c.2739A= (p.Leu913=) n.3345A= | |
| 7 | g.87417421A= | CA1723579529 | ABCB4 | c.2573T= (p.Leu858=) c.2468T= (p.Leu823=) c.2594T= (p.Leu865=) c.1913T= (p.Leu638=) n.2669T= c.2843T= (p.Leu948=) c.2738T= (p.Leu913=) n.3344T= | |
| 7 | g.87417421A>C | CA368061380 | ABCB4 | c.2573T>G (p.Leu858Arg) c.2468T>G (p.Leu823Arg) c.2594T>G (p.Leu865Arg) c.1913T>G (p.Leu638Arg) n.2669T>G c.2843T>G (p.Leu948Arg) c.2738T>G (p.Leu913Arg) n.3344T>G | |
| 7 | g.87417421A>G | CA368061382 | ABCB4 | c.2573T>C (p.Leu858Pro) c.2468T>C (p.Leu823Pro) c.2594T>C (p.Leu865Pro) c.1913T>C (p.Leu638Pro) n.2669T>C c.2843T>C (p.Leu948Pro) c.2738T>C (p.Leu913Pro) n.3344T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417421A>T | CA368061384 | ABCB4 | c.2573T>A (p.Leu858Gln) c.2468T>A (p.Leu823Gln) c.2594T>A (p.Leu865Gln) c.1913T>A (p.Leu638Gln) n.2669T>A c.2843T>A (p.Leu948Gln) c.2738T>A (p.Leu913Gln) n.3344T>A | |
| 7 | g.87417422G>A | CA456358485 | ABCB4 | c.2572C>T (p.Leu858=) c.2467C>T (p.Leu823=) c.2593C>T (p.Leu865=) c.1912C>T (p.Leu638=) n.2668C>T c.2842C>T (p.Leu948=) c.2737C>T (p.Leu913=) n.3343C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417422G>C | CA368061386 | ABCB4 | c.2572C>G (p.Leu858Val) c.2467C>G (p.Leu823Val) c.2593C>G (p.Leu865Val) c.1912C>G (p.Leu638Val) n.2668C>G c.2842C>G (p.Leu948Val) c.2737C>G (p.Leu913Val) n.3343C>G | gnomAD v4 |
| 7 | g.87417422G= | CA1723579534 | ABCB4 | c.2572C= (p.Leu858=) c.2467C= (p.Leu823=) c.2593C= (p.Leu865=) c.1912C= (p.Leu638=) n.2668C= c.2842C= (p.Leu948=) c.2737C= (p.Leu913=) n.3343C= | |
| 7 | g.87417422G>T | CA368061385 | ABCB4 | c.2572C>A (p.Leu858Ile) c.2467C>A (p.Leu823Ile) c.2593C>A (p.Leu865Ile) c.1912C>A (p.Leu638Ile) n.2668C>A c.2842C>A (p.Leu948Ile) c.2737C>A (p.Leu913Ile) n.3343C>A | |
| 7 | g.87417423G>A | CA456358486 | ABCB4 | c.2571C>T (p.Thr857=) c.2466C>T (p.Thr822=) c.2592C>T (p.Thr864=) c.1911C>T (p.Thr637=) n.2667C>T c.2841C>T (p.Thr947=) c.2736C>T (p.Thr912=) n.3342C>T | |
| 7 | g.87417423G>C | CA456358487 | ABCB4 | c.2571C>G (p.Thr857=) c.2466C>G (p.Thr822=) c.2592C>G (p.Thr864=) c.1911C>G (p.Thr637=) n.2667C>G c.2841C>G (p.Thr947=) c.2736C>G (p.Thr912=) n.3342C>G | gnomAD v4 |
| 7 | g.87417423G= | CA1723579542 | ABCB4 | c.2571C= (p.Thr857=) c.2466C= (p.Thr822=) c.2592C= (p.Thr864=) c.1911C= (p.Thr637=) n.2667C= c.2841C= (p.Thr947=) c.2736C= (p.Thr912=) n.3342C= | |
| 7 | g.87417423G>T | CA456358488 | ABCB4 | c.2571C>A (p.Thr857=) c.2466C>A (p.Thr822=) c.2592C>A (p.Thr864=) c.1911C>A (p.Thr637=) n.2667C>A c.2841C>A (p.Thr947=) c.2736C>A (p.Thr912=) n.3342C>A | dbSNP |
| 7 | g.87417424G>A | CA368061387 | ABCB4 | c.2570C>T (p.Thr857Ile) c.2465C>T (p.Thr822Ile) c.2591C>T (p.Thr864Ile) c.1910C>T (p.Thr637Ile) n.2666C>T c.2840C>T (p.Thr947Ile) c.2735C>T (p.Thr912Ile) n.3341C>T | dbSNP |
| 7 | g.87417424G>C | CA368061388 | ABCB4 | c.2570C>G (p.Thr857Ser) c.2465C>G (p.Thr822Ser) c.2591C>G (p.Thr864Ser) c.1910C>G (p.Thr637Ser) n.2666C>G c.2840C>G (p.Thr947Ser) c.2735C>G (p.Thr912Ser) n.3341C>G | |
| 7 | g.87417424G= | CA1723579545 | ABCB4 | c.2570C= (p.Thr857=) c.2465C= (p.Thr822=) c.2591C= (p.Thr864=) c.1910C= (p.Thr637=) n.2666C= c.2840C= (p.Thr947=) c.2735C= (p.Thr912=) n.3341C= | |
| 7 | g.87417424G>T | CA368061390 | ABCB4 | c.2570C>A (p.Thr857Asn) c.2465C>A (p.Thr822Asn) c.2591C>A (p.Thr864Asn) c.1910C>A (p.Thr637Asn) n.2666C>A c.2840C>A (p.Thr947Asn) c.2735C>A (p.Thr912Asn) n.3341C>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.87417425T>A | CA368061392 | ABCB4 | c.2569A>T (p.Thr857Ser) c.2464A>T (p.Thr822Ser) c.2590A>T (p.Thr864Ser) c.1909A>T (p.Thr637Ser) n.2665A>T c.2839A>T (p.Thr947Ser) c.2734A>T (p.Thr912Ser) n.3340A>T | |
| 7 | g.87417425T>C | CA368061394 | ABCB4 | c.2569A>G (p.Thr857Ala) c.2464A>G (p.Thr822Ala) c.2590A>G (p.Thr864Ala) c.1909A>G (p.Thr637Ala) n.2665A>G c.2839A>G (p.Thr947Ala) c.2734A>G (p.Thr912Ala) n.3340A>G | |
| 7 | g.87417425T>G | CA368061395 | ABCB4 | c.2569A>C (p.Thr857Pro) c.2464A>C (p.Thr822Pro) c.2590A>C (p.Thr864Pro) c.1909A>C (p.Thr637Pro) n.2665A>C c.2839A>C (p.Thr947Pro) c.2734A>C (p.Thr912Pro) n.3340A>C | |
| 7 | g.87417426T>A | CA368061398 | ABCB4 | c.2568A>T (p.Leu856Phe) c.2463A>T (p.Leu821Phe) c.2589A>T (p.Leu863Phe) c.1908A>T (p.Leu636Phe) n.2664A>T c.2838A>T (p.Leu946Phe) c.2733A>T (p.Leu911Phe) n.3339A>T | |
| 7 | g.87417426T>C | CA456358493 | ABCB4 | c.2568A>G (p.Leu856=) c.2463A>G (p.Leu821=) c.2589A>G (p.Leu863=) c.1908A>G (p.Leu636=) n.2664A>G c.2838A>G (p.Leu946=) c.2733A>G (p.Leu911=) n.3339A>G | dbSNP |
| 7 | g.87417426T>G | CA368061399 | ABCB4 | c.2568A>C (p.Leu856Phe) c.2463A>C (p.Leu821Phe) c.2589A>C (p.Leu863Phe) c.1908A>C (p.Leu636Phe) n.2664A>C c.2838A>C (p.Leu946Phe) c.2733A>C (p.Leu911Phe) n.3339A>C | |
| 7 | g.87417426T= | CA1723579550 | ABCB4 | c.2568A= (p.Leu856=) c.2463A= (p.Leu821=) c.2589A= (p.Leu863=) c.1908A= (p.Leu636=) n.2664A= c.2838A= (p.Leu946=) c.2733A= (p.Leu911=) n.3339A= | |
| 7 | g.87417427A>C | CA368061400 | ABCB4 | c.2567T>G (p.Leu856Ter) c.2462T>G (p.Leu821Ter) c.2588T>G (p.Leu863Ter) c.1907T>G (p.Leu636Ter) n.2663T>G c.2837T>G (p.Leu946Ter) c.2732T>G (p.Leu911Ter) n.3338T>G | |
| 7 | g.87417427A>G | CA368061402 | ABCB4 | c.2567T>C (p.Leu856Ser) c.2462T>C (p.Leu821Ser) c.2588T>C (p.Leu863Ser) c.1907T>C (p.Leu636Ser) n.2663T>C c.2837T>C (p.Leu946Ser) c.2732T>C (p.Leu911Ser) n.3338T>C | COSMIC COSMIC |
| 7 | g.87417427A>T | CA368061404 | ABCB4 | c.2567T>A (p.Leu856Ter) c.2462T>A (p.Leu821Ter) c.2588T>A (p.Leu863Ter) c.1907T>A (p.Leu636Ter) n.2663T>A c.2837T>A (p.Leu946Ter) c.2732T>A (p.Leu911Ter) n.3338T>A | |
| 7 | g.87417428A= | CA1723579552 | ABCB4 | c.2566T= (p.Leu856=) c.2461T= (p.Leu821=) c.2587T= (p.Leu863=) c.1906T= (p.Leu636=) n.2662T= c.2836T= (p.Leu946=) c.2731T= (p.Leu911=) n.3337T= | |
| 7 | g.87417428A>C | CA368061406 | ABCB4 | c.2566T>G (p.Leu856Val) c.2461T>G (p.Leu821Val) c.2587T>G (p.Leu863Val) c.1906T>G (p.Leu636Val) n.2662T>G c.2836T>G (p.Leu946Val) c.2731T>G (p.Leu911Val) n.3337T>G | |
| 7 | g.87417428A>G | CA456358496 | ABCB4 | c.2566T>C (p.Leu856=) c.2461T>C (p.Leu821=) c.2587T>C (p.Leu863=) c.1906T>C (p.Leu636=) n.2662T>C c.2836T>C (p.Leu946=) c.2731T>C (p.Leu911=) n.3337T>C | dbSNP |
| 7 | g.87417428A>T | CA368061407 | ABCB4 | c.2566T>A (p.Leu856Ile) c.2461T>A (p.Leu821Ile) c.2587T>A (p.Leu863Ile) c.1906T>A (p.Leu636Ile) n.2662T>A c.2836T>A (p.Leu946Ile) c.2731T>A (p.Leu911Ile) n.3337T>A | |
| 7 | g.87417429C>A | CA368061408 | ABCB4 | c.2565G>T (p.Gln855His) c.2460G>T (p.Gln820His) c.2586G>T (p.Gln862His) c.1905G>T (p.Gln635His) n.2661G>T c.2835G>T (p.Gln945His) c.2730G>T (p.Gln910His) n.3336G>T | |
| 7 | g.87417429C= | CA1723579556 | ABCB4 | c.2565G= (p.Gln855=) c.2460G= (p.Gln820=) c.2586G= (p.Gln862=) c.1905G= (p.Gln635=) n.2661G= c.2835G= (p.Gln945=) c.2730G= (p.Gln910=) n.3336G= | |
| 7 | g.87417429C>G | CA368061410 | ABCB4 | c.2565G>C (p.Gln855His) c.2460G>C (p.Gln820His) c.2586G>C (p.Gln862His) c.1905G>C (p.Gln635His) n.2661G>C c.2835G>C (p.Gln945His) c.2730G>C (p.Gln910His) n.3336G>C | |
| 7 | g.87417429C>T | CA456358499 | ABCB4 | c.2565G>A (p.Gln855=) c.2460G>A (p.Gln820=) c.2586G>A (p.Gln862=) c.1905G>A (p.Gln635=) n.2661G>A c.2835G>A (p.Gln945=) c.2730G>A (p.Gln910=) n.3336G>A | dbSNP |
| 7 | g.87417430T>A | CA368061411 | ABCB4 | c.2564A>T (p.Gln855Leu) c.2459A>T (p.Gln820Leu) c.2585A>T (p.Gln862Leu) c.1904A>T (p.Gln635Leu) n.2660A>T c.2834A>T (p.Gln945Leu) c.2729A>T (p.Gln910Leu) n.3335A>T | |
| 7 | g.87417430T>C | CA368061413 | ABCB4 | c.2564A>G (p.Gln855Arg) c.2459A>G (p.Gln820Arg) c.2585A>G (p.Gln862Arg) c.1904A>G (p.Gln635Arg) n.2660A>G c.2834A>G (p.Gln945Arg) c.2729A>G (p.Gln910Arg) n.3335A>G | |
| 7 | g.87417430T>G | CA368061414 | ABCB4 | c.2564A>C (p.Gln855Pro) c.2459A>C (p.Gln820Pro) c.2585A>C (p.Gln862Pro) c.1904A>C (p.Gln635Pro) n.2660A>C c.2834A>C (p.Gln945Pro) c.2729A>C (p.Gln910Pro) n.3335A>C | |
| 7 | g.87417431G>A | CA368061415 | ABCB4 | c.2563C>T (p.Gln855Ter) c.2458C>T (p.Gln820Ter) c.2584C>T (p.Gln862Ter) c.1903C>T (p.Gln635Ter) n.2659C>T c.2833C>T (p.Gln945Ter) c.2728C>T (p.Gln910Ter) n.3334C>T | |
| 7 | g.87417431G>C | CA368061416 | ABCB4 | c.2563C>G (p.Gln855Glu) c.2458C>G (p.Gln820Glu) c.2584C>G (p.Gln862Glu) c.1903C>G (p.Gln635Glu) n.2659C>G c.2833C>G (p.Gln945Glu) c.2728C>G (p.Gln910Glu) n.3334C>G | |
| 7 | g.87417431G>T | CA368061417 | ABCB4 | c.2563C>A (p.Gln855Lys) c.2458C>A (p.Gln820Lys) c.2584C>A (p.Gln862Lys) c.1903C>A (p.Gln635Lys) n.2659C>A c.2833C>A (p.Gln945Lys) c.2728C>A (p.Gln910Lys) n.3334C>A | |
| 7 | g.87417432C>A | CA162106146 | ABCB4 | c.2562G>T (p.Trp854Cys) c.2457G>T (p.Trp819Cys) c.2583G>T (p.Trp861Cys) c.1902G>T (p.Trp634Cys) n.2658G>T c.2832G>T (p.Trp944Cys) c.2727G>T (p.Trp909Cys) n.3333G>T | dbSNP |
| 7 | g.87417432C= | CA1723579560 | ABCB4 | c.2562G= (p.Trp854=) c.2457G= (p.Trp819=) c.2583G= (p.Trp861=) c.1902G= (p.Trp634=) n.2658G= c.2832G= (p.Trp944=) c.2727G= (p.Trp909=) n.3333G= | |
| 7 | g.87417432C>G | CA368061419 | ABCB4 | c.2562G>C (p.Trp854Cys) c.2457G>C (p.Trp819Cys) c.2583G>C (p.Trp861Cys) c.1902G>C (p.Trp634Cys) n.2658G>C c.2832G>C (p.Trp944Cys) c.2727G>C (p.Trp909Cys) n.3333G>C | |
| 7 | g.87417432C>T | CA368061421 | ABCB4 | c.2562G>A (p.Trp854Ter) c.2457G>A (p.Trp819Ter) c.2583G>A (p.Trp861Ter) c.1902G>A (p.Trp634Ter) n.2658G>A c.2832G>A (p.Trp944Ter) c.2727G>A (p.Trp909Ter) n.3333G>A | |
| 7 | g.87417433C>A | CA368061422 | ABCB4 | c.2561G>T (p.Trp854Leu) c.2456G>T (p.Trp819Leu) c.2582G>T (p.Trp861Leu) c.1901G>T (p.Trp634Leu) n.2657G>T c.2831G>T (p.Trp944Leu) c.2726G>T (p.Trp909Leu) n.3332G>T | |
| 7 | g.87417433C>G | CA368061424 | ABCB4 | c.2561G>C (p.Trp854Ser) c.2456G>C (p.Trp819Ser) c.2582G>C (p.Trp861Ser) c.1901G>C (p.Trp634Ser) n.2657G>C c.2831G>C (p.Trp944Ser) c.2726G>C (p.Trp909Ser) n.3332G>C | gnomAD v4 |
| 7 | g.87417433C>T | CA368061425 | ABCB4 | c.2561G>A (p.Trp854Ter) c.2456G>A (p.Trp819Ter) c.2582G>A (p.Trp861Ter) c.1901G>A (p.Trp634Ter) n.2657G>A c.2831G>A (p.Trp944Ter) c.2726G>A (p.Trp909Ter) n.3332G>A | |
| 7 | g.87417434A>C | CA368061428 | ABCB4 | c.2560T>G (p.Trp854Gly) c.2455T>G (p.Trp819Gly) c.2581T>G (p.Trp861Gly) c.1900T>G (p.Trp634Gly) n.2656T>G c.2830T>G (p.Trp944Gly) c.2725T>G (p.Trp909Gly) n.3331T>G | |
| 7 | g.87417434A>G | CA368061430 | ABCB4 | c.2560T>C (p.Trp854Arg) c.2455T>C (p.Trp819Arg) c.2581T>C (p.Trp861Arg) c.1900T>C (p.Trp634Arg) n.2656T>C c.2830T>C (p.Trp944Arg) c.2725T>C (p.Trp909Arg) n.3331T>C | |
| 7 | g.87417434A>T | CA368061426 | ABCB4 | c.2560T>A (p.Trp854Arg) c.2455T>A (p.Trp819Arg) c.2581T>A (p.Trp861Arg) c.1900T>A (p.Trp634Arg) n.2656T>A c.2830T>A (p.Trp944Arg) c.2725T>A (p.Trp909Arg) n.3331T>A | |
| 7 | g.87417435A= | CA1723579563 | ABCB4 | c.2559T= (p.Gly853=) c.2454T= (p.Gly818=) c.2580T= (p.Gly860=) c.1899T= (p.Gly633=) n.2655T= c.2829T= (p.Gly943=) c.2724T= (p.Gly908=) n.3330T= | |
| 7 | g.87417435A>C | CA162106148 | ABCB4 | c.2559T>G (p.Gly853=) c.2454T>G (p.Gly818=) c.2580T>G (p.Gly860=) c.1899T>G (p.Gly633=) n.2655T>G c.2829T>G (p.Gly943=) c.2724T>G (p.Gly908=) n.3330T>G | dbSNP |
| 7 | g.87417435A>G | CA456358509 | ABCB4 | c.2559T>C (p.Gly853=) c.2454T>C (p.Gly818=) c.2580T>C (p.Gly860=) c.1899T>C (p.Gly633=) n.2655T>C c.2829T>C (p.Gly943=) c.2724T>C (p.Gly908=) n.3330T>C | |
| 7 | g.87417435A>T | CA456358511 | ABCB4 | c.2559T>A (p.Gly853=) c.2454T>A (p.Gly818=) c.2580T>A (p.Gly860=) c.1899T>A (p.Gly633=) n.2655T>A c.2829T>A (p.Gly943=) c.2724T>A (p.Gly908=) n.3330T>A | |
| 7 | g.87417436C>A | CA368061432 | ABCB4 | c.2558G>T (p.Gly853Val) c.2453G>T (p.Gly818Val) c.2579G>T (p.Gly860Val) c.1898G>T (p.Gly633Val) n.2654G>T c.2828G>T (p.Gly943Val) c.2723G>T (p.Gly908Val) n.3329G>T | |
| 7 | g.87417436C>G | CA368061433 | ABCB4 | c.2558G>C (p.Gly853Ala) c.2453G>C (p.Gly818Ala) c.2579G>C (p.Gly860Ala) c.1898G>C (p.Gly633Ala) n.2654G>C c.2828G>C (p.Gly943Ala) c.2723G>C (p.Gly908Ala) n.3329G>C | |
| 7 | g.87417436C>T | CA368061434 | ABCB4 | c.2558G>A (p.Gly853Asp) c.2453G>A (p.Gly818Asp) c.2579G>A (p.Gly860Asp) c.1898G>A (p.Gly633Asp) n.2654G>A c.2828G>A (p.Gly943Asp) c.2723G>A (p.Gly908Asp) n.3329G>A | |
| 7 | g.87417437C>A | CA368061439 | ABCB4 | c.2557G>T (p.Gly853Cys) c.2452G>T (p.Gly818Cys) c.2578G>T (p.Gly860Cys) c.1897G>T (p.Gly633Cys) n.2653G>T c.2827G>T (p.Gly943Cys) c.2722G>T (p.Gly908Cys) n.3328G>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.87417437C= | CA1723579567 | ABCB4 | c.2557G= (p.Gly853=) c.2452G= (p.Gly818=) c.2578G= (p.Gly860=) c.1897G= (p.Gly633=) n.2653G= c.2827G= (p.Gly943=) c.2722G= (p.Gly908=) n.3328G= | |
| 7 | g.87417437C>G | CA368061437 | ABCB4 | c.2557G>C (p.Gly853Arg) c.2452G>C (p.Gly818Arg) c.2578G>C (p.Gly860Arg) c.1897G>C (p.Gly633Arg) n.2653G>C c.2827G>C (p.Gly943Arg) c.2722G>C (p.Gly908Arg) n.3328G>C | |
| 7 | g.87417437C>T | CA4326983 | ABCB4 | c.2557G>A (p.Gly853Ser) c.2452G>A (p.Gly818Ser) c.2578G>A (p.Gly860Ser) c.1897G>A (p.Gly633Ser) n.2653G>A c.2827G>A (p.Gly943Ser) c.2722G>A (p.Gly908Ser) n.3328G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417438G>A | CA4326984 | ABCB4 | c.2556C>T (p.Tyr852=) c.2451C>T (p.Tyr817=) c.2577C>T (p.Tyr859=) c.1896C>T (p.Tyr632=) n.2652C>T c.2826C>T (p.Tyr942=) c.2721C>T (p.Tyr907=) n.3327C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417438G>C | CA368061441 | ABCB4 | c.2556C>G (p.Tyr852Ter) c.2451C>G (p.Tyr817Ter) c.2577C>G (p.Tyr859Ter) c.1896C>G (p.Tyr632Ter) n.2652C>G c.2826C>G (p.Tyr942Ter) c.2721C>G (p.Tyr907Ter) n.3327C>G | |
| 7 | g.87417438G= | CA1723579572 | ABCB4 | c.2556C= (p.Tyr852=) c.2451C= (p.Tyr817=) c.2577C= (p.Tyr859=) c.1896C= (p.Tyr632=) n.2652C= c.2826C= (p.Tyr942=) c.2721C= (p.Tyr907=) n.3327C= | |
| 7 | g.87417438G>T | CA368061443 | ABCB4 | c.2556C>A (p.Tyr852Ter) c.2451C>A (p.Tyr817Ter) c.2577C>A (p.Tyr859Ter) c.1896C>A (p.Tyr632Ter) n.2652C>A c.2826C>A (p.Tyr942Ter) c.2721C>A (p.Tyr907Ter) n.3327C>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.87417439T>A | CA368061445 | ABCB4 | c.2555A>T (p.Tyr852Phe) c.2450A>T (p.Tyr817Phe) c.2576A>T (p.Tyr859Phe) c.1895A>T (p.Tyr632Phe) n.2651A>T c.2825A>T (p.Tyr942Phe) c.2720A>T (p.Tyr907Phe) n.3326A>T | |
| 7 | g.87417439T>C | CA4326985 | ABCB4 | c.2555A>G (p.Tyr852Cys) c.2450A>G (p.Tyr817Cys) c.2576A>G (p.Tyr859Cys) c.1895A>G (p.Tyr632Cys) n.2651A>G c.2825A>G (p.Tyr942Cys) c.2720A>G (p.Tyr907Cys) n.3326A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417439T>G | CA368061447 | ABCB4 | c.2555A>C (p.Tyr852Ser) c.2450A>C (p.Tyr817Ser) c.2576A>C (p.Tyr859Ser) c.1895A>C (p.Tyr632Ser) n.2651A>C c.2825A>C (p.Tyr942Ser) c.2720A>C (p.Tyr907Ser) n.3326A>C | |
| 7 | g.87417439T= | CA1723579575 | ABCB4 | c.2555A= (p.Tyr852=) c.2450A= (p.Tyr817=) c.2576A= (p.Tyr859=) c.1895A= (p.Tyr632=) n.2651A= c.2825A= (p.Tyr942=) c.2720A= (p.Tyr907=) n.3326A= | |
| 7 | g.87417440A>C | CA368061452 | ABCB4 | c.2554T>G (p.Tyr852Asp) c.2449T>G (p.Tyr817Asp) c.2575T>G (p.Tyr859Asp) c.1894T>G (p.Tyr632Asp) n.2650T>G c.2824T>G (p.Tyr942Asp) c.2719T>G (p.Tyr907Asp) n.3325T>G | |
| 7 | g.87417440A>G | CA368061450 | ABCB4 | c.2554T>C (p.Tyr852His) c.2449T>C (p.Tyr817His) c.2575T>C (p.Tyr859His) c.1894T>C (p.Tyr632His) n.2650T>C c.2824T>C (p.Tyr942His) c.2719T>C (p.Tyr907His) n.3325T>C | gnomAD v4 |
| 7 | g.87417440A>T | CA368061449 | ABCB4 | c.2554T>A (p.Tyr852Asn) c.2449T>A (p.Tyr817Asn) c.2575T>A (p.Tyr859Asn) c.1894T>A (p.Tyr632Asn) n.2650T>A c.2824T>A (p.Tyr942Asn) c.2719T>A (p.Tyr907Asn) n.3325T>A | gnomAD v4 |
| 7 | g.87417441G>A | CA456358515 | ABCB4 | c.2553C>T (p.Ile851=) c.2448C>T (p.Ile816=) c.2574C>T (p.Ile858=) c.1893C>T (p.Ile631=) n.2649C>T c.2823C>T (p.Ile941=) c.2718C>T (p.Ile906=) n.3324C>T | |
| 7 | g.87417441G>C | CA368061454 | ABCB4 | c.2553C>G (p.Ile851Met) c.2448C>G (p.Ile816Met) c.2574C>G (p.Ile858Met) c.1893C>G (p.Ile631Met) n.2649C>G c.2823C>G (p.Ile941Met) c.2718C>G (p.Ile906Met) n.3324C>G | |
| 7 | g.87417441G>T | CA456358516 | ABCB4 | c.2553C>A (p.Ile851=) c.2448C>A (p.Ile816=) c.2574C>A (p.Ile858=) c.1893C>A (p.Ile631=) n.2649C>A c.2823C>A (p.Ile941=) c.2718C>A (p.Ile906=) n.3324C>A | COSMIC COSMIC |
| 7 | g.87417442A>C | CA368061457 | ABCB4 | c.2552T>G (p.Ile851Ser) c.2447T>G (p.Ile816Ser) c.2573T>G (p.Ile858Ser) c.1892T>G (p.Ile631Ser) n.2648T>G c.2822T>G (p.Ile941Ser) c.2717T>G (p.Ile906Ser) n.3323T>G | |
| 7 | g.87417442A>G | CA368061456 | ABCB4 | c.2552T>C (p.Ile851Thr) c.2447T>C (p.Ile816Thr) c.2573T>C (p.Ile858Thr) c.1892T>C (p.Ile631Thr) n.2648T>C c.2822T>C (p.Ile941Thr) c.2717T>C (p.Ile906Thr) n.3323T>C | |
| 7 | g.87417442A>T | CA368061459 | ABCB4 | c.2552T>A (p.Ile851Asn) c.2447T>A (p.Ile816Asn) c.2573T>A (p.Ile858Asn) c.1892T>A (p.Ile631Asn) n.2648T>A c.2822T>A (p.Ile941Asn) c.2717T>A (p.Ile906Asn) n.3323T>A | |
| 7 | g.87417443T>A | CA368061461 | ABCB4 | c.2551A>T (p.Ile851Phe) c.2446A>T (p.Ile816Phe) c.2572A>T (p.Ile858Phe) c.1891A>T (p.Ile631Phe) n.2647A>T c.2821A>T (p.Ile941Phe) c.2716A>T (p.Ile906Phe) n.3322A>T | |
| 7 | g.87417443T>C | CA368061463 | ABCB4 | c.2551A>G (p.Ile851Val) c.2446A>G (p.Ile816Val) c.2572A>G (p.Ile858Val) c.1891A>G (p.Ile631Val) n.2647A>G c.2821A>G (p.Ile941Val) c.2716A>G (p.Ile906Val) n.3322A>G | gnomAD v4 |
| 7 | g.87417443T>G | CA368061464 | ABCB4 | c.2551A>C (p.Ile851Leu) c.2446A>C (p.Ile816Leu) c.2572A>C (p.Ile858Leu) c.1891A>C (p.Ile631Leu) n.2647A>C c.2821A>C (p.Ile941Leu) c.2716A>C (p.Ile906Leu) n.3322A>C | |
| 7 | g.87417444A= | CA1723579582 | ABCB4 | c.2550T= (p.Phe850=) c.2445T= (p.Phe815=) c.2571T= (p.Phe857=) c.1890T= (p.Phe630=) n.2646T= c.2820T= (p.Phe940=) c.2715T= (p.Phe905=) n.3321T= | |
| 7 | g.87417444A>C | CA368061466 | ABCB4 | c.2550T>G (p.Phe850Leu) c.2445T>G (p.Phe815Leu) c.2571T>G (p.Phe857Leu) c.1890T>G (p.Phe630Leu) n.2646T>G c.2820T>G (p.Phe940Leu) c.2715T>G (p.Phe905Leu) n.3321T>G | gnomAD v4 |
| 7 | g.87417444A>G | CA456358520 | ABCB4 | c.2550T>C (p.Phe850=) c.2445T>C (p.Phe815=) c.2571T>C (p.Phe857=) c.1890T>C (p.Phe630=) n.2646T>C c.2820T>C (p.Phe940=) c.2715T>C (p.Phe905=) n.3321T>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.87417444A>T | CA368061467 | ABCB4 | c.2550T>A (p.Phe850Leu) c.2445T>A (p.Phe815Leu) c.2571T>A (p.Phe857Leu) c.1890T>A (p.Phe630Leu) n.2646T>A c.2820T>A (p.Phe940Leu) c.2715T>A (p.Phe905Leu) n.3321T>A | |
| 7 | g.87417445A= | CA1723579587 | ABCB4 | c.2549T= (p.Phe850=) c.2444T= (p.Phe815=) c.2570T= (p.Phe857=) c.1889T= (p.Phe630=) n.2645T= c.2819T= (p.Phe940=) c.2714T= (p.Phe905=) n.3320T= | |
| 7 | g.87417445A>C | CA368061469 | ABCB4 | c.2549T>G (p.Phe850Cys) c.2444T>G (p.Phe815Cys) c.2570T>G (p.Phe857Cys) c.1889T>G (p.Phe630Cys) n.2645T>G c.2819T>G (p.Phe940Cys) c.2714T>G (p.Phe905Cys) n.3320T>G | |
| 7 | g.87417445A>G | CA368061471 | ABCB4 | c.2549T>C (p.Phe850Ser) c.2444T>C (p.Phe815Ser) c.2570T>C (p.Phe857Ser) c.1889T>C (p.Phe630Ser) n.2645T>C c.2819T>C (p.Phe940Ser) c.2714T>C (p.Phe905Ser) n.3320T>C | dbSNP |
| 7 | g.87417445A>T | CA368061472 | ABCB4 | c.2549T>A (p.Phe850Tyr) c.2444T>A (p.Phe815Tyr) c.2570T>A (p.Phe857Tyr) c.1889T>A (p.Phe630Tyr) n.2645T>A c.2819T>A (p.Phe940Tyr) c.2714T>A (p.Phe905Tyr) n.3320T>A | |
| 7 | g.87417446A= | CA1723579589 | ABCB4 | c.2548T= (p.Phe850=) c.2443T= (p.Phe815=) c.2569T= (p.Phe857=) c.1888T= (p.Phe630=) n.2644T= c.2818T= (p.Phe940=) c.2713T= (p.Phe905=) n.3319T= | |
| 7 | g.87417446A>C | CA368061473 | ABCB4 | c.2548T>G (p.Phe850Val) c.2443T>G (p.Phe815Val) c.2569T>G (p.Phe857Val) c.1888T>G (p.Phe630Val) n.2644T>G c.2818T>G (p.Phe940Val) c.2713T>G (p.Phe905Val) n.3319T>G | |
| 7 | g.87417446A>G | CA368061475 | ABCB4 | c.2548T>C (p.Phe850Leu) c.2443T>C (p.Phe815Leu) c.2569T>C (p.Phe857Leu) c.1888T>C (p.Phe630Leu) n.2644T>C c.2818T>C (p.Phe940Leu) c.2713T>C (p.Phe905Leu) n.3319T>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.87417446A>T | CA368061476 | ABCB4 | c.2548T>A (p.Phe850Ile) c.2443T>A (p.Phe815Ile) c.2569T>A (p.Phe857Ile) c.1888T>A (p.Phe630Ile) n.2644T>A c.2818T>A (p.Phe940Ile) c.2713T>A (p.Phe905Ile) n.3319T>A | |
| 7 | g.87417452_87417456del | CA2695208138 | ABCB4 | c.2544_2548del (p.Ser849TyrfsTer24) c.2439_2443del (p.Ser814TyrfsTer24) c.2565_2569del (p.Ser856TyrfsTer24) c.1884_1888del (p.Ser629TyrfsTer24) n.2640_2644del c.2814_2818del (p.Ser939TyrfsTer24) c.2709_2713del (p.Ser904TyrfsTer24) n.3315_3319del | |
| 7 | g.87417447T>A | CA456358526 | ABCB4 | c.2547A>T (p.Ser849=) c.2442A>T (p.Ser814=) c.2568A>T (p.Ser856=) c.1887A>T (p.Ser629=) n.2643A>T c.2817A>T (p.Ser939=) c.2712A>T (p.Ser904=) n.3318A>T | |
| 7 | g.87417447T>C | CA456358528 | ABCB4 | c.2547A>G (p.Ser849=) c.2442A>G (p.Ser814=) c.2568A>G (p.Ser856=) c.1887A>G (p.Ser629=) n.2643A>G c.2817A>G (p.Ser939=) c.2712A>G (p.Ser904=) n.3318A>G | |
| 7 | g.87417447T>G | CA456358525 | ABCB4 | c.2547A>C (p.Ser849=) c.2442A>C (p.Ser814=) c.2568A>C (p.Ser856=) c.1887A>C (p.Ser629=) n.2643A>C c.2817A>C (p.Ser939=) c.2712A>C (p.Ser904=) n.3318A>C | |
| 7 | g.87417448G>A | CA368061482 | ABCB4 | c.2546C>T (p.Ser849Leu) c.2441C>T (p.Ser814Leu) c.2567C>T (p.Ser856Leu) c.1886C>T (p.Ser629Leu) n.2642C>T c.2816C>T (p.Ser939Leu) c.2711C>T (p.Ser904Leu) n.3317C>T | |
| 7 | g.87417448G>C | CA368061480 | ABCB4 | c.2546C>G (p.Ser849Ter) c.2441C>G (p.Ser814Ter) c.2567C>G (p.Ser856Ter) c.1886C>G (p.Ser629Ter) n.2642C>G c.2816C>G (p.Ser939Ter) c.2711C>G (p.Ser904Ter) n.3317C>G | |
| 7 | g.87417448G>T | CA368061478 | ABCB4 | c.2546C>A (p.Ser849Ter) c.2441C>A (p.Ser814Ter) c.2567C>A (p.Ser856Ter) c.1886C>A (p.Ser629Ter) n.2642C>A c.2816C>A (p.Ser939Ter) c.2711C>A (p.Ser904Ter) n.3317C>A | |
| 7 | g.87417449A= | CA1723579592 | ABCB4 | c.2545T= (p.Ser849=) c.2440T= (p.Ser814=) c.2566T= (p.Ser856=) c.1885T= (p.Ser629=) n.2641T= c.2815T= (p.Ser939=) c.2710T= (p.Ser904=) n.3316T= | |
| 7 | g.87417449A>C | CA368061483 | ABCB4 | c.2545T>G (p.Ser849Ala) c.2440T>G (p.Ser814Ala) c.2566T>G (p.Ser856Ala) c.1885T>G (p.Ser629Ala) n.2641T>G c.2815T>G (p.Ser939Ala) c.2710T>G (p.Ser904Ala) n.3316T>G | |
| 7 | g.87417449A>G | CA368061485 | ABCB4 | c.2545T>C (p.Ser849Pro) c.2440T>C (p.Ser814Pro) c.2566T>C (p.Ser856Pro) c.1885T>C (p.Ser629Pro) n.2641T>C c.2815T>C (p.Ser939Pro) c.2710T>C (p.Ser904Pro) n.3316T>C | |
| 7 | g.87417449A>T | CA368061487 | ABCB4 | c.2545T>A (p.Ser849Thr) c.2440T>A (p.Ser814Thr) c.2566T>A (p.Ser856Thr) c.1885T>A (p.Ser629Thr) n.2641T>A c.2815T>A (p.Ser939Thr) c.2710T>A (p.Ser904Thr) n.3316T>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.87417450T>A | CA456358534 | ABCB4 | c.2544A>T (p.Ile848=) c.2439A>T (p.Ile813=) c.2565A>T (p.Ile855=) c.1884A>T (p.Ile628=) n.2640A>T c.2814A>T (p.Ile938=) c.2709A>T (p.Ile903=) n.3315A>T | |
| 7 | g.87417450T>C | CA162106153 | ABCB4 | c.2544A>G (p.Ile848Met) c.2439A>G (p.Ile813Met) c.2565A>G (p.Ile855Met) c.1884A>G (p.Ile628Met) n.2640A>G c.2814A>G (p.Ile938Met) c.2709A>G (p.Ile903Met) n.3315A>G | dbSNP |
| 7 | g.87417450T>G | CA4326986 | ABCB4 | c.2544A>C (p.Ile848=) c.2439A>C (p.Ile813=) c.2565A>C (p.Ile855=) c.1884A>C (p.Ile628=) n.2640A>C c.2814A>C (p.Ile938=) c.2709A>C (p.Ile903=) n.3315A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417450T= | CA1723579596 | ABCB4 | c.2544A= (p.Ile848=) c.2439A= (p.Ile813=) c.2565A= (p.Ile855=) c.1884A= (p.Ile628=) n.2640A= c.2814A= (p.Ile938=) c.2709A= (p.Ile903=) n.3315A= | |
| 7 | g.87417451A= | CA1723579603 | ABCB4 | c.2543T= (p.Ile848=) c.2438T= (p.Ile813=) c.2564T= (p.Ile855=) c.1883T= (p.Ile628=) n.2639T= c.2813T= (p.Ile938=) c.2708T= (p.Ile903=) n.3314T= | |
| 7 | g.87417451A>C | CA368061490 | ABCB4 | c.2543T>G (p.Ile848Arg) c.2438T>G (p.Ile813Arg) c.2564T>G (p.Ile855Arg) c.1883T>G (p.Ile628Arg) n.2639T>G c.2813T>G (p.Ile938Arg) c.2708T>G (p.Ile903Arg) n.3314T>G | |
| 7 | g.87417451A>G | CA162106157 | ABCB4 | c.2543T>C (p.Ile848Thr) c.2438T>C (p.Ile813Thr) c.2564T>C (p.Ile855Thr) c.1883T>C (p.Ile628Thr) n.2639T>C c.2813T>C (p.Ile938Thr) c.2708T>C (p.Ile903Thr) n.3314T>C | dbSNP |
| 7 | g.87417451A>T | CA368061493 | ABCB4 | c.2543T>A (p.Ile848Lys) c.2438T>A (p.Ile813Lys) c.2564T>A (p.Ile855Lys) c.1883T>A (p.Ile628Lys) n.2639T>A c.2813T>A (p.Ile938Lys) c.2708T>A (p.Ile903Lys) n.3314T>A | |
| 7 | g.87417453_87417455del | CA2683599280 | ABCB4 | c.2541_2543del (p.Ile848del) c.2436_2438del (p.Ile813del) c.2562_2564del (p.Ile855del) c.1881_1883del (p.Ile628del) n.2637_2639del c.2811_2813del (p.Ile938del) c.2706_2708del (p.Ile903del) n.3312_3314del | gnomAD v4 |
| 7 | g.87417452T>A | CA368061494 | ABCB4 | c.2542A>T (p.Ile848Leu) c.2437A>T (p.Ile813Leu) c.2563A>T (p.Ile855Leu) c.1882A>T (p.Ile628Leu) n.2638A>T c.2812A>T (p.Ile938Leu) c.2707A>T (p.Ile903Leu) n.3313A>T | |
| 7 | g.87417452T>C | CA162106158 | ABCB4 | c.2542A>G (p.Ile848Val) c.2437A>G (p.Ile813Val) c.2563A>G (p.Ile855Val) c.1882A>G (p.Ile628Val) n.2638A>G c.2812A>G (p.Ile938Val) c.2707A>G (p.Ile903Val) n.3313A>G | dbSNP gnomAD v4 |
| 7 | g.87417452T>G | CA368061496 | ABCB4 | c.2542A>C (p.Ile848Leu) c.2437A>C (p.Ile813Leu) c.2563A>C (p.Ile855Leu) c.1882A>C (p.Ile628Leu) n.2638A>C c.2812A>C (p.Ile938Leu) c.2707A>C (p.Ile903Leu) n.3313A>C | dbSNP |
| 7 | g.87417452T= | CA1723579606 | ABCB4 | c.2542A= (p.Ile848=) c.2437A= (p.Ile813=) c.2563A= (p.Ile855=) c.1882A= (p.Ile628=) n.2638A= c.2812A= (p.Ile938=) c.2707A= (p.Ile903=) n.3313A= | |
| 7 | g.87417453G>A | CA456358538 | ABCB4 | c.2541C>T (p.Ile847=) c.2436C>T (p.Ile812=) c.2562C>T (p.Ile854=) c.1881C>T (p.Ile627=) n.2637C>T c.2811C>T (p.Ile937=) c.2706C>T (p.Ile902=) n.3312C>T | dbSNP gnomAD v2 |
| 7 | g.87417453G>C | CA368061498 | ABCB4 | c.2541C>G (p.Ile847Met) c.2436C>G (p.Ile812Met) c.2562C>G (p.Ile854Met) c.1881C>G (p.Ile627Met) n.2637C>G c.2811C>G (p.Ile937Met) c.2706C>G (p.Ile902Met) n.3312C>G | |
| 7 | g.87417453G= | CA1723579610 | ABCB4 | c.2541C= (p.Ile847=) c.2436C= (p.Ile812=) c.2562C= (p.Ile854=) c.1881C= (p.Ile627=) n.2637C= c.2811C= (p.Ile937=) c.2706C= (p.Ile902=) n.3312C= | |
| 7 | g.87417453G>T | CA456358539 | ABCB4 | c.2541C>A (p.Ile847=) c.2436C>A (p.Ile812=) c.2562C>A (p.Ile854=) c.1881C>A (p.Ile627=) n.2637C>A c.2811C>A (p.Ile937=) c.2706C>A (p.Ile902=) n.3312C>A | |
| 7 | g.87417454A= | CA1723579615 | ABCB4 | c.2540T= (p.Ile847=) c.2435T= (p.Ile812=) c.2561T= (p.Ile854=) c.1880T= (p.Ile627=) n.2636T= c.2810T= (p.Ile937=) c.2705T= (p.Ile902=) n.3311T= | |
| 7 | g.87417454A>C | CA368061500 | ABCB4 | c.2540T>G (p.Ile847Ser) c.2435T>G (p.Ile812Ser) c.2561T>G (p.Ile854Ser) c.1880T>G (p.Ile627Ser) n.2636T>G c.2810T>G (p.Ile937Ser) c.2705T>G (p.Ile902Ser) n.3311T>G | |
| 7 | g.87417454A>G | CA4326987 | ABCB4 | c.2540T>C (p.Ile847Thr) c.2435T>C (p.Ile812Thr) c.2561T>C (p.Ile854Thr) c.1880T>C (p.Ile627Thr) n.2636T>C c.2810T>C (p.Ile937Thr) c.2705T>C (p.Ile902Thr) n.3311T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.87417454A>T | CA368061499 | ABCB4 | c.2540T>A (p.Ile847Asn) c.2435T>A (p.Ile812Asn) c.2561T>A (p.Ile854Asn) c.1880T>A (p.Ile627Asn) n.2636T>A c.2810T>A (p.Ile937Asn) c.2705T>A (p.Ile902Asn) n.3311T>A | |
| 7 | g.87417455T>A | CA368061502 | ABCB4 | c.2539A>T (p.Ile847Phe) c.2434A>T (p.Ile812Phe) c.2560A>T (p.Ile854Phe) c.1879A>T (p.Ile627Phe) n.2635A>T c.2809A>T (p.Ile937Phe) c.2704A>T (p.Ile902Phe) n.3310A>T | gnomAD v4 |
| 7 | g.87417455T>C | CA368061503 | ABCB4 | c.2539A>G (p.Ile847Val) c.2434A>G (p.Ile812Val) c.2560A>G (p.Ile854Val) c.1879A>G (p.Ile627Val) n.2635A>G c.2809A>G (p.Ile937Val) c.2704A>G (p.Ile902Val) n.3310A>G | |
| 7 | g.87417455T>G | CA368061505 | ABCB4 | c.2539A>C (p.Ile847Leu) c.2434A>C (p.Ile812Leu) c.2560A>C (p.Ile854Leu) c.1879A>C (p.Ile627Leu) n.2635A>C c.2809A>C (p.Ile937Leu) c.2704A>C (p.Ile902Leu) n.3310A>C | |
| 7 | g.87417456A>C | CA368061506 | ABCB4 | c.2538T>G (p.Ile846Met) c.2433T>G (p.Ile811Met) c.2559T>G (p.Ile853Met) c.1878T>G (p.Ile626Met) n.2634T>G c.2808T>G (p.Ile936Met) c.2703T>G (p.Ile901Met) n.3309T>G | |
| 7 | g.87417456A>G | CA456358544 | ABCB4 | c.2538T>C (p.Ile846=) c.2433T>C (p.Ile811=) c.2559T>C (p.Ile853=) c.1878T>C (p.Ile626=) n.2634T>C c.2808T>C (p.Ile936=) c.2703T>C (p.Ile901=) n.3309T>C | |
| 7 | g.87417456A>T | CA456358545 | ABCB4 | c.2538T>A (p.Ile846=) c.2433T>A (p.Ile811=) c.2559T>A (p.Ile853=) c.1878T>A (p.Ile626=) n.2634T>A c.2808T>A (p.Ile936=) c.2703T>A (p.Ile901=) n.3309T>A | |
| 7 | g.87417457A>C | CA368061508 | ABCB4 | c.2537T>G (p.Ile846Ser) c.2432T>G (p.Ile811Ser) c.2558T>G (p.Ile853Ser) c.1877T>G (p.Ile626Ser) n.2633T>G c.2807T>G (p.Ile936Ser) c.2702T>G (p.Ile901Ser) n.3308T>G | |
| 7 | g.87417457A>G | CA368061510 | ABCB4 | c.2537T>C (p.Ile846Thr) c.2432T>C (p.Ile811Thr) c.2558T>C (p.Ile853Thr) c.1877T>C (p.Ile626Thr) n.2633T>C c.2807T>C (p.Ile936Thr) c.2702T>C (p.Ile901Thr) n.3308T>C | gnomAD v4 |
| 7 | g.87417457A>T | CA368061512 | ABCB4 | c.2537T>A (p.Ile846Asn) c.2432T>A (p.Ile811Asn) c.2558T>A (p.Ile853Asn) c.1877T>A (p.Ile626Asn) n.2633T>A c.2807T>A (p.Ile936Asn) c.2702T>A (p.Ile901Asn) n.3308T>A | |
| 7 | g.87417458T>A | CA368061513 | ABCB4 | c.2536A>T (p.Ile846Phe) c.2431A>T (p.Ile811Phe) c.2557A>T (p.Ile853Phe) c.1876A>T (p.Ile626Phe) n.2632A>T c.2806A>T (p.Ile936Phe) c.2701A>T (p.Ile901Phe) n.3307A>T | |
| 7 | g.87417458T>C | CA368061516 | ABCB4 | c.2536A>G (p.Ile846Val) c.2431A>G (p.Ile811Val) c.2557A>G (p.Ile853Val) c.1876A>G (p.Ile626Val) n.2632A>G c.2806A>G (p.Ile936Val) c.2701A>G (p.Ile901Val) n.3307A>G | |
| 7 | g.87417458T>G | CA368061515 | ABCB4 | c.2536A>C (p.Ile846Leu) c.2431A>C (p.Ile811Leu) c.2557A>C (p.Ile853Leu) c.1876A>C (p.Ile626Leu) n.2632A>C c.2806A>C (p.Ile936Leu) c.2701A>C (p.Ile901Leu) n.3307A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417458T= | CA1723579621 | ABCB4 | c.2536A= (p.Ile846=) c.2431A= (p.Ile811=) c.2557A= (p.Ile853=) c.1876A= (p.Ile626=) n.2632A= c.2806A= (p.Ile936=) c.2701A= (p.Ile901=) n.3307A= | |
| 7 | g.87417459A= | CA1723579630 | ABCB4 | c.2535T= (p.Gly845=) c.2430T= (p.Gly810=) c.2556T= (p.Gly852=) c.1875T= (p.Gly625=) n.2631T= c.2805T= (p.Gly935=) c.2700T= (p.Gly900=) n.3306T= | |
| 7 | g.87417459A>C | CA456358550 | ABCB4 | c.2535T>G (p.Gly845=) c.2430T>G (p.Gly810=) c.2556T>G (p.Gly852=) c.1875T>G (p.Gly625=) n.2631T>G c.2805T>G (p.Gly935=) c.2700T>G (p.Gly900=) n.3306T>G | |
| 7 | g.87417459A>G | CA4326988 | ABCB4 | c.2535T>C (p.Gly845=) c.2430T>C (p.Gly810=) c.2556T>C (p.Gly852=) c.1875T>C (p.Gly625=) n.2631T>C c.2805T>C (p.Gly935=) c.2700T>C (p.Gly900=) n.3306T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417459A>T | CA456358551 | ABCB4 | c.2535T>A (p.Gly845=) c.2430T>A (p.Gly810=) c.2556T>A (p.Gly852=) c.1875T>A (p.Gly625=) n.2631T>A c.2805T>A (p.Gly935=) c.2700T>A (p.Gly900=) n.3306T>A | |
| 7 | g.87417460C>A | CA368061519 | ABCB4 | c.2534G>T (p.Gly845Val) c.2429G>T (p.Gly810Val) c.2555G>T (p.Gly852Val) c.1874G>T (p.Gly625Val) n.2630G>T c.2804G>T (p.Gly935Val) c.2699G>T (p.Gly900Val) n.3305G>T | ClinVar gnomAD v4 |
| 7 | g.87417460C= | CA1723579636 | ABCB4 | c.2534G= (p.Gly845=) c.2429G= (p.Gly810=) c.2555G= (p.Gly852=) c.1874G= (p.Gly625=) n.2630G= c.2804G= (p.Gly935=) c.2699G= (p.Gly900=) n.3305G= | |
| 7 | g.87417460C>G | CA4326989 | ABCB4 | c.2534G>C (p.Gly845Ala) c.2429G>C (p.Gly810Ala) c.2555G>C (p.Gly852Ala) c.1874G>C (p.Gly625Ala) n.2630G>C c.2804G>C (p.Gly935Ala) c.2699G>C (p.Gly900Ala) n.3305G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.87417460C>T | CA368061520 | ABCB4 | c.2534G>A (p.Gly845Asp) c.2429G>A (p.Gly810Asp) c.2555G>A (p.Gly852Asp) c.1874G>A (p.Gly625Asp) n.2630G>A c.2804G>A (p.Gly935Asp) c.2699G>A (p.Gly900Asp) n.3305G>A | |
| 7 | g.87417461C>A | CA368061521 | ABCB4 | c.2533G>T (p.Gly845Cys) c.2428G>T (p.Gly810Cys) c.2554G>T (p.Gly852Cys) c.1873G>T (p.Gly625Cys) n.2629G>T c.2803G>T (p.Gly935Cys) c.2698G>T (p.Gly900Cys) n.3304G>T | |
| 7 | g.87417461C>G | CA368061524 | ABCB4 | c.2533G>C (p.Gly845Arg) c.2428G>C (p.Gly810Arg) c.2554G>C (p.Gly852Arg) c.1873G>C (p.Gly625Arg) n.2629G>C c.2803G>C (p.Gly935Arg) c.2698G>C (p.Gly900Arg) n.3304G>C | |
| 7 | g.87417461C>T | CA368061522 | ABCB4 | c.2533G>A (p.Gly845Ser) c.2428G>A (p.Gly810Ser) c.2554G>A (p.Gly852Ser) c.1873G>A (p.Gly625Ser) n.2629G>A c.2803G>A (p.Gly935Ser) c.2698G>A (p.Gly900Ser) n.3304G>A | |
| 7 | g.87417462A= | CA1723579639 | ABCB4 | c.2532T= (p.Thr844=) c.2427T= (p.Thr809=) c.2553T= (p.Thr851=) c.1872T= (p.Thr624=) n.2628T= c.2802T= (p.Thr934=) c.2697T= (p.Thr899=) n.3303T= | |
| 7 | g.87417462A>C | CA456358554 | ABCB4 | c.2532T>G (p.Thr844=) c.2427T>G (p.Thr809=) c.2553T>G (p.Thr851=) c.1872T>G (p.Thr624=) n.2628T>G c.2802T>G (p.Thr934=) c.2697T>G (p.Thr899=) n.3303T>G | |
| 7 | g.87417462A>G | CA456358555 | ABCB4 | c.2532T>C (p.Thr844=) c.2427T>C (p.Thr809=) c.2553T>C (p.Thr851=) c.1872T>C (p.Thr624=) n.2628T>C c.2802T>C (p.Thr934=) c.2697T>C (p.Thr899=) n.3303T>C | dbSNP |
| 7 | g.87417462A>T | CA456358557 | ABCB4 | c.2532T>A (p.Thr844=) c.2427T>A (p.Thr809=) c.2553T>A (p.Thr851=) c.1872T>A (p.Thr624=) n.2628T>A c.2802T>A (p.Thr934=) c.2697T>A (p.Thr899=) n.3303T>A | |
| 7 | g.87417463G>A | CA368061526 | ABCB4 | c.2531C>T (p.Thr844Ile) c.2426C>T (p.Thr809Ile) c.2552C>T (p.Thr851Ile) c.1871C>T (p.Thr624Ile) n.2627C>T c.2801C>T (p.Thr934Ile) c.2696C>T (p.Thr899Ile) n.3302C>T | dbSNP |
| 7 | g.87417463G>C | CA368061528 | ABCB4 | c.2531C>G (p.Thr844Ser) c.2426C>G (p.Thr809Ser) c.2552C>G (p.Thr851Ser) c.1871C>G (p.Thr624Ser) n.2627C>G c.2801C>G (p.Thr934Ser) c.2696C>G (p.Thr899Ser) n.3302C>G | |
| 7 | g.87417463G= | CA1723579640 | ABCB4 | c.2531C= (p.Thr844=) c.2426C= (p.Thr809=) c.2552C= (p.Thr851=) c.1871C= (p.Thr624=) n.2627C= c.2801C= (p.Thr934=) c.2696C= (p.Thr899=) n.3302C= | |
| 7 | g.87417463G>T | CA368061529 | ABCB4 | c.2531C>A (p.Thr844Asn) c.2426C>A (p.Thr809Asn) c.2552C>A (p.Thr851Asn) c.1871C>A (p.Thr624Asn) n.2627C>A c.2801C>A (p.Thr934Asn) c.2696C>A (p.Thr899Asn) n.3302C>A | |
| 7 | g.87417464T>A | CA368061531 | ABCB4 | c.2530A>T (p.Thr844Ser) c.2425A>T (p.Thr809Ser) c.2551A>T (p.Thr851Ser) c.1870A>T (p.Thr624Ser) n.2626A>T c.2800A>T (p.Thr934Ser) c.2695A>T (p.Thr899Ser) n.3301A>T | |
| 7 | g.87417464T>C | CA368061533 | ABCB4 | c.2530A>G (p.Thr844Ala) c.2425A>G (p.Thr809Ala) c.2551A>G (p.Thr851Ala) c.1870A>G (p.Thr624Ala) n.2626A>G c.2800A>G (p.Thr934Ala) c.2695A>G (p.Thr899Ala) n.3301A>G | |
| 7 | g.87417464T>G | CA368061534 | ABCB4 | c.2530A>C (p.Thr844Pro) c.2425A>C (p.Thr809Pro) c.2551A>C (p.Thr851Pro) c.1870A>C (p.Thr624Pro) n.2626A>C c.2800A>C (p.Thr934Pro) c.2695A>C (p.Thr899Pro) n.3301A>C | |
| 7 | g.87417465T>A | CA456358561 | ABCB4 | c.2529A>T (p.Gly843=) c.2424A>T (p.Gly808=) c.2550A>T (p.Gly850=) c.1869A>T (p.Gly623=) n.2625A>T c.2799A>T (p.Gly933=) c.2694A>T (p.Gly898=) n.3300A>T | |
| 7 | g.87417465T>C | CA456358562 | ABCB4 | c.2529A>G (p.Gly843=) c.2424A>G (p.Gly808=) c.2550A>G (p.Gly850=) c.1869A>G (p.Gly623=) n.2625A>G c.2799A>G (p.Gly933=) c.2694A>G (p.Gly898=) n.3300A>G | |
| 7 | g.87417465T>G | CA456358563 | ABCB4 | c.2529A>C (p.Gly843=) c.2424A>C (p.Gly808=) c.2550A>C (p.Gly850=) c.1869A>C (p.Gly623=) n.2625A>C c.2799A>C (p.Gly933=) c.2694A>C (p.Gly898=) n.3300A>C | |
| 7 | g.87417466C>A | CA162106165 | ABCB4 | c.2528G>T (p.Gly843Val) c.2423G>T (p.Gly808Val) c.2549G>T (p.Gly850Val) c.1868G>T (p.Gly623Val) n.2624G>T c.2798G>T (p.Gly933Val) c.2693G>T (p.Gly898Val) n.3299G>T | dbSNP gnomAD v4 |
| 7 | g.87417466C= | CA1723579643 | ABCB4 | c.2528G= (p.Gly843=) c.2423G= (p.Gly808=) c.2549G= (p.Gly850=) c.1868G= (p.Gly623=) n.2624G= c.2798G= (p.Gly933=) c.2693G= (p.Gly898=) n.3299G= | |
| 7 | g.87417466C>G | CA368061535 | ABCB4 | c.2528G>C (p.Gly843Ala) c.2423G>C (p.Gly808Ala) c.2549G>C (p.Gly850Ala) c.1868G>C (p.Gly623Ala) n.2624G>C c.2798G>C (p.Gly933Ala) c.2693G>C (p.Gly898Ala) n.3299G>C | |
| 7 | g.87417466C>T | CA368061536 | ABCB4 | c.2528G>A (p.Gly843Glu) c.2423G>A (p.Gly808Glu) c.2549G>A (p.Gly850Glu) c.1868G>A (p.Gly623Glu) n.2624G>A c.2798G>A (p.Gly933Glu) c.2693G>A (p.Gly898Glu) n.3299G>A | |
| 7 | g.87417467C>A | CA368061537 | ABCB4 | c.2527G>T (p.Gly843Ter) c.2422G>T (p.Gly808Ter) c.2548G>T (p.Gly850Ter) c.1867G>T (p.Gly623Ter) n.2623G>T c.2797G>T (p.Gly933Ter) c.2692G>T (p.Gly898Ter) n.3298G>T | |
| 7 | g.87417467C= | CA1723579648 | ABCB4 | c.2527G= (p.Gly843=) c.2422G= (p.Gly808=) c.2548G= (p.Gly850=) c.1867G= (p.Gly623=) n.2623G= c.2797G= (p.Gly933=) c.2692G= (p.Gly898=) n.3298G= | |
| 7 | g.87417467C>G | CA162106166 | ABCB4 | c.2527G>C (p.Gly843Arg) c.2422G>C (p.Gly808Arg) c.2548G>C (p.Gly850Arg) c.1867G>C (p.Gly623Arg) n.2623G>C c.2797G>C (p.Gly933Arg) c.2692G>C (p.Gly898Arg) n.3298G>C | dbSNP gnomAD v4 |
| 7 | g.87417467C>T | CA368061540 | ABCB4 | c.2527G>A (p.Gly843Arg) c.2422G>A (p.Gly808Arg) c.2548G>A (p.Gly850Arg) c.1867G>A (p.Gly623Arg) n.2623G>A c.2797G>A (p.Gly933Arg) c.2692G>A (p.Gly898Arg) n.3298G>A | |
| 7 | g.87417468A>C | CA456358565 | ABCB4 | c.2526T>G (p.Leu842=) c.2421T>G (p.Leu807=) c.2547T>G (p.Leu849=) c.1866T>G (p.Leu622=) n.2622T>G c.2796T>G (p.Leu932=) c.2691T>G (p.Leu897=) n.3297T>G | |
| 7 | g.87417468A>G | CA456358567 | ABCB4 | c.2526T>C (p.Leu842=) c.2421T>C (p.Leu807=) c.2547T>C (p.Leu849=) c.1866T>C (p.Leu622=) n.2622T>C c.2796T>C (p.Leu932=) c.2691T>C (p.Leu897=) n.3297T>C | COSMIC |
| 7 | g.87417468A>T | CA456358566 | ABCB4 | c.2526T>A (p.Leu842=) c.2421T>A (p.Leu807=) c.2547T>A (p.Leu849=) c.1866T>A (p.Leu622=) n.2622T>A c.2796T>A (p.Leu932=) c.2691T>A (p.Leu897=) n.3297T>A | |
| 7 | g.87417469A>C | CA368061545 | ABCB4 | c.2525T>G (p.Leu842Arg) c.2420T>G (p.Leu807Arg) c.2546T>G (p.Leu849Arg) c.1865T>G (p.Leu622Arg) n.2621T>G c.2795T>G (p.Leu932Arg) c.2690T>G (p.Leu897Arg) n.3296T>G | |
| 7 | g.87417469A>G | CA368061543 | ABCB4 | c.2525T>C (p.Leu842Pro) c.2420T>C (p.Leu807Pro) c.2546T>C (p.Leu849Pro) c.1865T>C (p.Leu622Pro) n.2621T>C c.2795T>C (p.Leu932Pro) c.2690T>C (p.Leu897Pro) n.3296T>C | |
| 7 | g.87417469A>T | CA368061542 | ABCB4 | c.2525T>A (p.Leu842His) c.2420T>A (p.Leu807His) c.2546T>A (p.Leu849His) c.1865T>A (p.Leu622His) n.2621T>A c.2795T>A (p.Leu932His) c.2690T>A (p.Leu897His) n.3296T>A | |
| 7 | g.87417470G>A | CA368061546 | ABCB4 | c.2524C>T (p.Leu842Phe) c.2419C>T (p.Leu807Phe) c.2545C>T (p.Leu849Phe) c.1864C>T (p.Leu622Phe) n.2620C>T c.2794C>T (p.Leu932Phe) c.2689C>T (p.Leu897Phe) n.3295C>T | |
| 7 | g.87417470G>C | CA368061547 | ABCB4 | c.2524C>G (p.Leu842Val) c.2419C>G (p.Leu807Val) c.2545C>G (p.Leu849Val) c.1864C>G (p.Leu622Val) n.2620C>G c.2794C>G (p.Leu932Val) c.2689C>G (p.Leu897Val) n.3295C>G | |
| 7 | g.87417470G= | CA1723579656 | ABCB4 | c.2524C= (p.Leu842=) c.2419C= (p.Leu807=) c.2545C= (p.Leu849=) c.1864C= (p.Leu622=) n.2620C= c.2794C= (p.Leu932=) c.2689C= (p.Leu897=) n.3295C= | |
| 7 | g.87417470G>T | CA162106169 | ABCB4 | c.2524C>A (p.Leu842Ile) c.2419C>A (p.Leu807Ile) c.2545C>A (p.Leu849Ile) c.1864C>A (p.Leu622Ile) n.2620C>A c.2794C>A (p.Leu932Ile) c.2689C>A (p.Leu897Ile) n.3295C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417471G>A | CA456358570 | ABCB4 | c.2523C>T (p.Asn841=) c.2418C>T (p.Asn806=) c.2544C>T (p.Asn848=) c.1863C>T (p.Asn621=) n.2619C>T c.2793C>T (p.Asn931=) c.2688C>T (p.Asn896=) n.3294C>T | |
| 7 | g.87417471G>C | CA368061548 | ABCB4 | c.2523C>G (p.Asn841Lys) c.2418C>G (p.Asn806Lys) c.2544C>G (p.Asn848Lys) c.1863C>G (p.Asn621Lys) n.2619C>G c.2793C>G (p.Asn931Lys) c.2688C>G (p.Asn896Lys) n.3294C>G | |
| 7 | g.87417471G>T | CA368061549 | ABCB4 | c.2523C>A (p.Asn841Lys) c.2418C>A (p.Asn806Lys) c.2544C>A (p.Asn848Lys) c.1863C>A (p.Asn621Lys) n.2619C>A c.2793C>A (p.Asn931Lys) c.2688C>A (p.Asn896Lys) n.3294C>A | |
| 7 | g.87417472T>A | CA368061551 | ABCB4 | c.2522A>T (p.Asn841Ile) c.2417A>T (p.Asn806Ile) c.2543A>T (p.Asn848Ile) c.1862A>T (p.Asn621Ile) n.2618A>T c.2792A>T (p.Asn931Ile) c.2687A>T (p.Asn896Ile) n.3293A>T | |
| 7 | g.87417472T>C | CA368061553 | ABCB4 | c.2522A>G (p.Asn841Ser) c.2417A>G (p.Asn806Ser) c.2543A>G (p.Asn848Ser) c.1862A>G (p.Asn621Ser) n.2618A>G c.2792A>G (p.Asn931Ser) c.2687A>G (p.Asn896Ser) n.3293A>G | |
| 7 | g.87417472T>G | CA368061555 | ABCB4 | c.2522A>C (p.Asn841Thr) c.2417A>C (p.Asn806Thr) c.2543A>C (p.Asn848Thr) c.1862A>C (p.Asn621Thr) n.2618A>C c.2792A>C (p.Asn931Thr) c.2687A>C (p.Asn896Thr) n.3293A>C | |
| 7 | g.87417473T>A | CA368061556 | ABCB4 | c.2521A>T (p.Asn841Tyr) c.2416A>T (p.Asn806Tyr) c.2542A>T (p.Asn848Tyr) c.1861A>T (p.Asn621Tyr) n.2617A>T c.2791A>T (p.Asn931Tyr) c.2686A>T (p.Asn896Tyr) n.3292A>T | |
| 7 | g.87417473T>C | CA368061557 | ABCB4 | c.2521A>G (p.Asn841Asp) c.2416A>G (p.Asn806Asp) c.2542A>G (p.Asn848Asp) c.1861A>G (p.Asn621Asp) n.2617A>G c.2791A>G (p.Asn931Asp) c.2686A>G (p.Asn896Asp) n.3292A>G | |
| 7 | g.87417473T>G | CA368061558 | ABCB4 | c.2521A>C (p.Asn841His) c.2416A>C (p.Asn806His) c.2542A>C (p.Asn848His) c.1861A>C (p.Asn621His) n.2617A>C c.2791A>C (p.Asn931His) c.2686A>C (p.Asn896His) n.3292A>C | |
| 7 | g.87417474A= | CA1723579660 | ABCB4 | c.2520T= (p.Ala840=) c.2415T= (p.Ala805=) c.2541T= (p.Ala847=) c.1860T= (p.Ala620=) n.2616T= c.2790T= (p.Ala930=) c.2685T= (p.Ala895=) n.3291T= | |
| 7 | g.87417474A>C | CA456358577 | ABCB4 | c.2520T>G (p.Ala840=) c.2415T>G (p.Ala805=) c.2541T>G (p.Ala847=) c.1860T>G (p.Ala620=) n.2616T>G c.2790T>G (p.Ala930=) c.2685T>G (p.Ala895=) n.3291T>G | |
| 7 | g.87417474A>G | CA456358578 | ABCB4 | c.2520T>C (p.Ala840=) c.2415T>C (p.Ala805=) c.2541T>C (p.Ala847=) c.1860T>C (p.Ala620=) n.2616T>C c.2790T>C (p.Ala930=) c.2685T>C (p.Ala895=) n.3291T>C | dbSNP |
| 7 | g.87417474A>T | CA456358579 | ABCB4 | c.2520T>A (p.Ala840=) c.2415T>A (p.Ala805=) c.2541T>A (p.Ala847=) c.1860T>A (p.Ala620=) n.2616T>A c.2790T>A (p.Ala930=) c.2685T>A (p.Ala895=) n.3291T>A |