| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 7 | g.87417475G>A | CA368061560 | ABCB4 | c.2519C>T (p.Ala840Val) c.2414C>T (p.Ala805Val) c.2540C>T (p.Ala847Val) c.1859C>T (p.Ala620Val) n.2615C>T c.2789C>T (p.Ala930Val) c.2684C>T (p.Ala895Val) n.3290C>T | |
| 7 | g.87417475G>C | CA368061562 | ABCB4 | c.2519C>G (p.Ala840Gly) c.2414C>G (p.Ala805Gly) c.2540C>G (p.Ala847Gly) c.1859C>G (p.Ala620Gly) n.2615C>G c.2789C>G (p.Ala930Gly) c.2684C>G (p.Ala895Gly) n.3290C>G | |
| 7 | g.87417475G>T | CA368061563 | ABCB4 | c.2519C>A (p.Ala840Asp) c.2414C>A (p.Ala805Asp) c.2540C>A (p.Ala847Asp) c.1859C>A (p.Ala620Asp) n.2615C>A c.2789C>A (p.Ala930Asp) c.2684C>A (p.Ala895Asp) n.3290C>A | |
| 7 | g.87417476C>A | CA162106171 | ABCB4 | c.2518G>T (p.Ala840Ser) c.2413G>T (p.Ala805Ser) c.2539G>T (p.Ala847Ser) c.1858G>T (p.Ala620Ser) n.2614G>T c.2788G>T (p.Ala930Ser) c.2683G>T (p.Ala895Ser) n.3289G>T | dbSNP |
| 7 | g.87417476C= | CA1723579663 | ABCB4 | c.2518G= (p.Ala840=) c.2413G= (p.Ala805=) c.2539G= (p.Ala847=) c.1858G= (p.Ala620=) n.2614G= c.2788G= (p.Ala930=) c.2683G= (p.Ala895=) n.3289G= | |
| 7 | g.87417476C>G | CA368061566 | ABCB4 | c.2518G>C (p.Ala840Pro) c.2413G>C (p.Ala805Pro) c.2539G>C (p.Ala847Pro) c.1858G>C (p.Ala620Pro) n.2614G>C c.2788G>C (p.Ala930Pro) c.2683G>C (p.Ala895Pro) n.3289G>C | |
| 7 | g.87417476C>T | CA368061564 | ABCB4 | c.2518G>A (p.Ala840Thr) c.2413G>A (p.Ala805Thr) c.2539G>A (p.Ala847Thr) c.1858G>A (p.Ala620Thr) n.2614G>A c.2788G>A (p.Ala930Thr) c.2683G>A (p.Ala895Thr) n.3289G>A | |
| 7 | g.87417477T>A | CA456358586 | ABCB4 | c.2517A>T (p.Ile839=) c.2412A>T (p.Ile804=) c.2538A>T (p.Ile846=) c.1857A>T (p.Ile619=) n.2613A>T c.2787A>T (p.Ile929=) c.2682A>T (p.Ile894=) n.3288A>T | |
| 7 | g.87417477T>C | CA368061569 | ABCB4 | c.2517A>G (p.Ile839Met) c.2412A>G (p.Ile804Met) c.2538A>G (p.Ile846Met) c.1857A>G (p.Ile619Met) n.2613A>G c.2787A>G (p.Ile929Met) c.2682A>G (p.Ile894Met) n.3288A>G | |
| 7 | g.87417477T>G | CA456358587 | ABCB4 | c.2517A>C (p.Ile839=) c.2412A>C (p.Ile804=) c.2538A>C (p.Ile846=) c.1857A>C (p.Ile619=) n.2613A>C c.2787A>C (p.Ile929=) c.2682A>C (p.Ile894=) n.3288A>C | gnomAD v4 |
| 7 | g.87417478A= | CA1723579668 | ABCB4 | c.2516T= (p.Ile839=) c.2411T= (p.Ile804=) c.2537T= (p.Ile846=) c.1856T= (p.Ile619=) n.2612T= c.2786T= (p.Ile929=) c.2681T= (p.Ile894=) n.3287T= | |
| 7 | g.87417478A>C | CA368061570 | ABCB4 | c.2516T>G (p.Ile839Arg) c.2411T>G (p.Ile804Arg) c.2537T>G (p.Ile846Arg) c.1856T>G (p.Ile619Arg) n.2612T>G c.2786T>G (p.Ile929Arg) c.2681T>G (p.Ile894Arg) n.3287T>G | |
| 7 | g.87417478A>G | CA368061571 | ABCB4 | c.2516T>C (p.Ile839Thr) c.2411T>C (p.Ile804Thr) c.2537T>C (p.Ile846Thr) c.1856T>C (p.Ile619Thr) n.2612T>C c.2786T>C (p.Ile929Thr) c.2681T>C (p.Ile894Thr) n.3287T>C | dbSNP |
| 7 | g.87417478A>T | CA368061573 | ABCB4 | c.2516T>A (p.Ile839Lys) c.2411T>A (p.Ile804Lys) c.2537T>A (p.Ile846Lys) c.1856T>A (p.Ile619Lys) n.2612T>A c.2786T>A (p.Ile929Lys) c.2681T>A (p.Ile894Lys) n.3287T>A | |
| 7 | g.87417479T>A | CA368061575 | ABCB4 | c.2515A>T (p.Ile839Leu) c.2410A>T (p.Ile804Leu) c.2536A>T (p.Ile846Leu) c.1855A>T (p.Ile619Leu) n.2611A>T c.2785A>T (p.Ile929Leu) c.2680A>T (p.Ile894Leu) n.3286A>T | COSMIC COSMIC |
| 7 | g.87417479T>C | CA368061577 | ABCB4 | c.2515A>G (p.Ile839Val) c.2410A>G (p.Ile804Val) c.2536A>G (p.Ile846Val) c.1855A>G (p.Ile619Val) n.2611A>G c.2785A>G (p.Ile929Val) c.2680A>G (p.Ile894Val) n.3286A>G | |
| 7 | g.87417479T>G | CA368061578 | ABCB4 | c.2515A>C (p.Ile839Leu) c.2410A>C (p.Ile804Leu) c.2536A>C (p.Ile846Leu) c.1855A>C (p.Ile619Leu) n.2611A>C c.2785A>C (p.Ile929Leu) c.2680A>C (p.Ile894Leu) n.3286A>C | |
| 7 | g.87417480A= | CA1723579671 | ABCB4 | c.2514T= (p.Asn838=) c.2409T= (p.Asn803=) c.2535T= (p.Asn845=) c.1854T= (p.Asn618=) n.2610T= c.2784T= (p.Asn928=) c.2679T= (p.Asn893=) n.3285T= | |
| 7 | g.87417480A>C | CA368061580 | ABCB4 | c.2514T>G (p.Asn838Lys) c.2409T>G (p.Asn803Lys) c.2535T>G (p.Asn845Lys) c.1854T>G (p.Asn618Lys) n.2610T>G c.2784T>G (p.Asn928Lys) c.2679T>G (p.Asn893Lys) n.3285T>G | |
| 7 | g.87417480A>G | CA456358591 | ABCB4 | c.2514T>C (p.Asn838=) c.2409T>C (p.Asn803=) c.2535T>C (p.Asn845=) c.1854T>C (p.Asn618=) n.2610T>C c.2784T>C (p.Asn928=) c.2679T>C (p.Asn893=) n.3285T>C | dbSNP |
| 7 | g.87417480A>T | CA368061581 | ABCB4 | c.2514T>A (p.Asn838Lys) c.2409T>A (p.Asn803Lys) c.2535T>A (p.Asn845Lys) c.1854T>A (p.Asn618Lys) n.2610T>A c.2784T>A (p.Asn928Lys) c.2679T>A (p.Asn893Lys) n.3285T>A | |
| 7 | g.87417481T>A | CA368061582 | ABCB4 | c.2513A>T (p.Asn838Ile) c.2408A>T (p.Asn803Ile) c.2534A>T (p.Asn845Ile) c.1853A>T (p.Asn618Ile) n.2609A>T c.2783A>T (p.Asn928Ile) c.2678A>T (p.Asn893Ile) n.3284A>T | |
| 7 | g.87417481T>C | CA368061584 | ABCB4 | c.2513A>G (p.Asn838Ser) c.2408A>G (p.Asn803Ser) c.2534A>G (p.Asn845Ser) c.1853A>G (p.Asn618Ser) n.2609A>G c.2783A>G (p.Asn928Ser) c.2678A>G (p.Asn893Ser) n.3284A>G | |
| 7 | g.87417481T>G | CA368061586 | ABCB4 | c.2513A>C (p.Asn838Thr) c.2408A>C (p.Asn803Thr) c.2534A>C (p.Asn845Thr) c.1853A>C (p.Asn618Thr) n.2609A>C c.2783A>C (p.Asn928Thr) c.2678A>C (p.Asn893Thr) n.3284A>C | |
| 7 | g.87417482T>A | CA368061590 | ABCB4 | c.2512A>T (p.Asn838Tyr) c.2407A>T (p.Asn803Tyr) c.2533A>T (p.Asn845Tyr) c.1852A>T (p.Asn618Tyr) n.2608A>T c.2782A>T (p.Asn928Tyr) c.2677A>T (p.Asn893Tyr) n.3283A>T | |
| 7 | g.87417482T>C | CA368061589 | ABCB4 | c.2512A>G (p.Asn838Asp) c.2407A>G (p.Asn803Asp) c.2533A>G (p.Asn845Asp) c.1852A>G (p.Asn618Asp) n.2608A>G c.2782A>G (p.Asn928Asp) c.2677A>G (p.Asn893Asp) n.3283A>G | |
| 7 | g.87417482T>G | CA368061588 | ABCB4 | c.2512A>C (p.Asn838His) c.2407A>C (p.Asn803His) c.2533A>C (p.Asn845His) c.1852A>C (p.Asn618His) n.2608A>C c.2782A>C (p.Asn928His) c.2677A>C (p.Asn893His) n.3283A>C | |
| 7 | g.87417483C>A | CA368061592 | ABCB4 | c.2511G>T (p.Gln837His) c.2406G>T (p.Gln802His) c.2532G>T (p.Gln844His) c.1851G>T (p.Gln617His) n.2607G>T c.2781G>T (p.Gln927His) c.2676G>T (p.Gln892His) n.3282G>T | |
| 7 | g.87417483C= | CA1723579677 | ABCB4 | c.2511G= (p.Gln837=) c.2406G= (p.Gln802=) c.2532G= (p.Gln844=) c.1851G= (p.Gln617=) n.2607G= c.2781G= (p.Gln927=) c.2676G= (p.Gln892=) n.3282G= | |
| 7 | g.87417483C>G | CA162106173 | ABCB4 | c.2511G>C (p.Gln837His) c.2406G>C (p.Gln802His) c.2532G>C (p.Gln844His) c.1851G>C (p.Gln617His) n.2607G>C c.2781G>C (p.Gln927His) c.2676G>C (p.Gln892His) n.3282G>C | dbSNP |
| 7 | g.87417483C>T | CA456358592 | ABCB4 | c.2511G>A (p.Gln837=) c.2406G>A (p.Gln802=) c.2532G>A (p.Gln844=) c.1851G>A (p.Gln617=) n.2607G>A c.2781G>A (p.Gln927=) c.2676G>A (p.Gln892=) n.3282G>A | |
| 7 | g.87417484T>A | CA368061595 | ABCB4 | c.2510A>T (p.Gln837Leu) c.2405A>T (p.Gln802Leu) c.2531A>T (p.Gln844Leu) c.1850A>T (p.Gln617Leu) n.2606A>T c.2780A>T (p.Gln927Leu) c.2675A>T (p.Gln892Leu) n.3281A>T | |
| 7 | g.87417484T>C | CA368061596 | ABCB4 | c.2510A>G (p.Gln837Arg) c.2405A>G (p.Gln802Arg) c.2531A>G (p.Gln844Arg) c.1850A>G (p.Gln617Arg) n.2606A>G c.2780A>G (p.Gln927Arg) c.2675A>G (p.Gln892Arg) n.3281A>G | |
| 7 | g.87417484T>G | CA368061597 | ABCB4 | c.2510A>C (p.Gln837Pro) c.2405A>C (p.Gln802Pro) c.2531A>C (p.Gln844Pro) c.1850A>C (p.Gln617Pro) n.2606A>C c.2780A>C (p.Gln927Pro) c.2675A>C (p.Gln892Pro) n.3281A>C | |
| 7 | g.87417485G>A | CA368061598 | ABCB4 | c.2509C>T (p.Gln837Ter) c.2404C>T (p.Gln802Ter) c.2530C>T (p.Gln844Ter) c.1849C>T (p.Gln617Ter) n.2605C>T c.2779C>T (p.Gln927Ter) c.2674C>T (p.Gln892Ter) n.3280C>T | gnomAD v4 |
| 7 | g.87417485G>C | CA368061600 | ABCB4 | c.2509C>G (p.Gln837Glu) c.2404C>G (p.Gln802Glu) c.2530C>G (p.Gln844Glu) c.1849C>G (p.Gln617Glu) n.2605C>G c.2779C>G (p.Gln927Glu) c.2674C>G (p.Gln892Glu) n.3280C>G | |
| 7 | g.87417485G>T | CA368061602 | ABCB4 | c.2509C>A (p.Gln837Lys) c.2404C>A (p.Gln802Lys) c.2530C>A (p.Gln844Lys) c.1849C>A (p.Gln617Lys) n.2605C>A c.2779C>A (p.Gln927Lys) c.2674C>A (p.Gln892Lys) n.3280C>A | |
| 7 | g.87417486T>A | CA456358596 | ABCB4 | c.2508A>T (p.Ala836=) c.2403A>T (p.Ala801=) c.2529A>T (p.Ala843=) c.1848A>T (p.Ala616=) n.2604A>T c.2778A>T (p.Ala926=) c.2673A>T (p.Ala891=) n.3279A>T | |
| 7 | g.87417486T>C | CA456358597 | ABCB4 | c.2508A>G (p.Ala836=) c.2403A>G (p.Ala801=) c.2529A>G (p.Ala843=) c.1848A>G (p.Ala616=) n.2604A>G c.2778A>G (p.Ala926=) c.2673A>G (p.Ala891=) n.3279A>G | |
| 7 | g.87417486T>G | CA162106176 | ABCB4 | c.2508A>C (p.Ala836=) c.2403A>C (p.Ala801=) c.2529A>C (p.Ala843=) c.1848A>C (p.Ala616=) n.2604A>C c.2778A>C (p.Ala926=) c.2673A>C (p.Ala891=) n.3279A>C | dbSNP gnomAD v4 |
| 7 | g.87417486T= | CA1723579686 | ABCB4 | c.2508A= (p.Ala836=) c.2403A= (p.Ala801=) c.2529A= (p.Ala843=) c.1848A= (p.Ala616=) n.2604A= c.2778A= (p.Ala926=) c.2673A= (p.Ala891=) n.3279A= | |
| 7 | g.87417487G>A | CA368061603 | ABCB4 | c.2507C>T (p.Ala836Val) c.2402C>T (p.Ala801Val) c.2528C>T (p.Ala843Val) c.1847C>T (p.Ala616Val) n.2603C>T c.2777C>T (p.Ala926Val) c.2672C>T (p.Ala891Val) n.3278C>T | gnomAD v4 |
| 7 | g.87417487G>C | CA368061605 | ABCB4 | c.2507C>G (p.Ala836Gly) c.2402C>G (p.Ala801Gly) c.2528C>G (p.Ala843Gly) c.1847C>G (p.Ala616Gly) n.2603C>G c.2777C>G (p.Ala926Gly) c.2672C>G (p.Ala891Gly) n.3278C>G | |
| 7 | g.87417487G>T | CA368061606 | ABCB4 | c.2507C>A (p.Ala836Glu) c.2402C>A (p.Ala801Glu) c.2528C>A (p.Ala843Glu) c.1847C>A (p.Ala616Glu) n.2603C>A c.2777C>A (p.Ala926Glu) c.2672C>A (p.Ala891Glu) n.3278C>A | gnomAD v4 |
| 7 | g.87417488C>A | CA368061608 | ABCB4 | c.2506G>T (p.Ala836Ser) c.2401G>T (p.Ala801Ser) c.2527G>T (p.Ala843Ser) c.1846G>T (p.Ala616Ser) n.2602G>T c.2776G>T (p.Ala926Ser) c.2671G>T (p.Ala891Ser) n.3277G>T | |
| 7 | g.87417488C>G | CA368061609 | ABCB4 | c.2506G>C (p.Ala836Pro) c.2401G>C (p.Ala801Pro) c.2527G>C (p.Ala843Pro) c.1846G>C (p.Ala616Pro) n.2602G>C c.2776G>C (p.Ala926Pro) c.2671G>C (p.Ala891Pro) n.3277G>C | |
| 7 | g.87417488C>T | CA368061611 | ABCB4 | c.2506G>A (p.Ala836Thr) c.2401G>A (p.Ala801Thr) c.2527G>A (p.Ala843Thr) c.1846G>A (p.Ala616Thr) n.2602G>A c.2776G>A (p.Ala926Thr) c.2671G>A (p.Ala891Thr) n.3277G>A | |
| 7 | g.87417489A= | CA1723579691 | ABCB4 | c.2505T= (p.Ile835=) c.2400T= (p.Ile800=) c.2526T= (p.Ile842=) c.1845T= (p.Ile615=) n.2601T= c.2775T= (p.Ile925=) c.2670T= (p.Ile890=) n.3276T= | |
| 7 | g.87417489A>C | CA368061612 | ABCB4 | c.2505T>G (p.Ile835Met) c.2400T>G (p.Ile800Met) c.2526T>G (p.Ile842Met) c.1845T>G (p.Ile615Met) n.2601T>G c.2775T>G (p.Ile925Met) c.2670T>G (p.Ile890Met) n.3276T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417489A>G | CA456358600 | ABCB4 | c.2505T>C (p.Ile835=) c.2400T>C (p.Ile800=) c.2526T>C (p.Ile842=) c.1845T>C (p.Ile615=) n.2601T>C c.2775T>C (p.Ile925=) c.2670T>C (p.Ile890=) n.3276T>C | |
| 7 | g.87417489A>T | CA456358599 | ABCB4 | c.2505T>A (p.Ile835=) c.2400T>A (p.Ile800=) c.2526T>A (p.Ile842=) c.1845T>A (p.Ile615=) n.2601T>A c.2775T>A (p.Ile925=) c.2670T>A (p.Ile890=) n.3276T>A | |
| 7 | g.87417490A= | CA1723579694 | ABCB4 | c.2504T= (p.Ile835=) c.2399T= (p.Ile800=) c.2525T= (p.Ile842=) c.1844T= (p.Ile615=) n.2600T= c.2774T= (p.Ile925=) c.2669T= (p.Ile890=) n.3275T= | |
| 7 | g.87417490A>C | CA368061613 | ABCB4 | c.2504T>G (p.Ile835Ser) c.2399T>G (p.Ile800Ser) c.2525T>G (p.Ile842Ser) c.1844T>G (p.Ile615Ser) n.2600T>G c.2774T>G (p.Ile925Ser) c.2669T>G (p.Ile890Ser) n.3275T>G | |
| 7 | g.87417490A>G | CA368061614 | ABCB4 | c.2504T>C (p.Ile835Thr) c.2399T>C (p.Ile800Thr) c.2525T>C (p.Ile842Thr) c.1844T>C (p.Ile615Thr) n.2600T>C c.2774T>C (p.Ile925Thr) c.2669T>C (p.Ile890Thr) n.3275T>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.87417490A>T | CA368061615 | ABCB4 | c.2504T>A (p.Ile835Asn) c.2399T>A (p.Ile800Asn) c.2525T>A (p.Ile842Asn) c.1844T>A (p.Ile615Asn) n.2600T>A c.2774T>A (p.Ile925Asn) c.2669T>A (p.Ile890Asn) n.3275T>A | |
| 7 | g.87417491T>A | CA368061617 | ABCB4 | c.2503A>T (p.Ile835Phe) c.2398A>T (p.Ile800Phe) c.2524A>T (p.Ile842Phe) c.1843A>T (p.Ile615Phe) n.2599A>T c.2773A>T (p.Ile925Phe) c.2668A>T (p.Ile890Phe) n.3274A>T | |
| 7 | g.87417491T>C | CA368061618 | ABCB4 | c.2503A>G (p.Ile835Val) c.2398A>G (p.Ile800Val) c.2524A>G (p.Ile842Val) c.1843A>G (p.Ile615Val) n.2599A>G c.2773A>G (p.Ile925Val) c.2668A>G (p.Ile890Val) n.3274A>G | |
| 7 | g.87417491T>G | CA368061620 | ABCB4 | c.2503A>C (p.Ile835Leu) c.2398A>C (p.Ile800Leu) c.2524A>C (p.Ile842Leu) c.1843A>C (p.Ile615Leu) n.2599A>C c.2773A>C (p.Ile925Leu) c.2668A>C (p.Ile890Leu) n.3274A>C | |
| 7 | g.87417492T>A | CA368061622 | ABCB4 | c.2502A>T (p.Leu834Phe) c.2397A>T (p.Leu799Phe) c.2523A>T (p.Leu841Phe) c.1842A>T (p.Leu614Phe) n.2598A>T c.2772A>T (p.Leu924Phe) c.2667A>T (p.Leu889Phe) n.3273A>T | |
| 7 | g.87417492T>C | CA456358602 | ABCB4 | c.2502A>G (p.Leu834=) c.2397A>G (p.Leu799=) c.2523A>G (p.Leu841=) c.1842A>G (p.Leu614=) n.2598A>G c.2772A>G (p.Leu924=) c.2667A>G (p.Leu889=) n.3273A>G | gnomAD v4 |
| 7 | g.87417492T>G | CA368061624 | ABCB4 | c.2502A>C (p.Leu834Phe) c.2397A>C (p.Leu799Phe) c.2523A>C (p.Leu841Phe) c.1842A>C (p.Leu614Phe) n.2598A>C c.2772A>C (p.Leu924Phe) c.2667A>C (p.Leu889Phe) n.3273A>C | |
| 7 | g.87417493A>C | CA368061625 | ABCB4 | c.2501T>G (p.Leu834Ter) c.2396T>G (p.Leu799Ter) c.2522T>G (p.Leu841Ter) c.1841T>G (p.Leu614Ter) n.2597T>G c.2771T>G (p.Leu924Ter) c.2666T>G (p.Leu889Ter) n.3272T>G | |
| 7 | g.87417493A>G | CA368061626 | ABCB4 | c.2501T>C (p.Leu834Ser) c.2396T>C (p.Leu799Ser) c.2522T>C (p.Leu841Ser) c.1841T>C (p.Leu614Ser) n.2597T>C c.2771T>C (p.Leu924Ser) c.2666T>C (p.Leu889Ser) n.3272T>C | gnomAD v4 |
| 7 | g.87417493A>T | CA368061628 | ABCB4 | c.2501T>A (p.Leu834Ter) c.2396T>A (p.Leu799Ter) c.2522T>A (p.Leu841Ter) c.1841T>A (p.Leu614Ter) n.2597T>A c.2771T>A (p.Leu924Ter) c.2666T>A (p.Leu889Ter) n.3272T>A | |
| 7 | g.87417494A>C | CA368061630 | ABCB4 | c.2500T>G (p.Leu834Val) c.2395T>G (p.Leu799Val) c.2521T>G (p.Leu841Val) c.1840T>G (p.Leu614Val) n.2596T>G c.2770T>G (p.Leu924Val) c.2665T>G (p.Leu889Val) n.3271T>G | |
| 7 | g.87417494A>G | CA456358604 | ABCB4 | c.2500T>C (p.Leu834=) c.2395T>C (p.Leu799=) c.2521T>C (p.Leu841=) c.1840T>C (p.Leu614=) n.2596T>C c.2770T>C (p.Leu924=) c.2665T>C (p.Leu889=) n.3271T>C | |
| 7 | g.87417494A>T | CA368061632 | ABCB4 | c.2500T>A (p.Leu834Ile) c.2395T>A (p.Leu799Ile) c.2521T>A (p.Leu841Ile) c.1840T>A (p.Leu614Ile) n.2596T>A c.2770T>A (p.Leu924Ile) c.2665T>A (p.Leu889Ile) n.3271T>A | |
| 7 | g.87417495A>C | CA456358605 | ABCB4 | c.2499T>G (p.Ala833=) c.2394T>G (p.Ala798=) c.2520T>G (p.Ala840=) c.1839T>G (p.Ala613=) n.2595T>G c.2769T>G (p.Ala923=) c.2664T>G (p.Ala888=) n.3270T>G | |
| 7 | g.87417495A>G | CA456358607 | ABCB4 | c.2499T>C (p.Ala833=) c.2394T>C (p.Ala798=) c.2520T>C (p.Ala840=) c.1839T>C (p.Ala613=) n.2595T>C c.2769T>C (p.Ala923=) c.2664T>C (p.Ala888=) n.3270T>C | |
| 7 | g.87417495A>T | CA456358606 | ABCB4 | c.2499T>A (p.Ala833=) c.2394T>A (p.Ala798=) c.2520T>A (p.Ala840=) c.1839T>A (p.Ala613=) n.2595T>A c.2769T>A (p.Ala923=) c.2664T>A (p.Ala888=) n.3270T>A | |
| 7 | g.87417496G>A | CA368061635 | ABCB4 | c.2498C>T (p.Ala833Val) c.2393C>T (p.Ala798Val) c.2519C>T (p.Ala840Val) c.1838C>T (p.Ala613Val) n.2594C>T c.2768C>T (p.Ala923Val) c.2663C>T (p.Ala888Val) n.3269C>T | |
| 7 | g.87417496G>C | CA368061633 | ABCB4 | c.2498C>G (p.Ala833Gly) c.2393C>G (p.Ala798Gly) c.2519C>G (p.Ala840Gly) c.1838C>G (p.Ala613Gly) n.2594C>G c.2768C>G (p.Ala923Gly) c.2663C>G (p.Ala888Gly) n.3269C>G | |
| 7 | g.87417496G>T | CA368061634 | ABCB4 | c.2498C>A (p.Ala833Asp) c.2393C>A (p.Ala798Asp) c.2519C>A (p.Ala840Asp) c.1838C>A (p.Ala613Asp) n.2594C>A c.2768C>A (p.Ala923Asp) c.2663C>A (p.Ala888Asp) n.3269C>A | gnomAD v4 |
| 7 | g.87417497C>A | CA368061637 | ABCB4 | c.2497G>T (p.Ala833Ser) c.2392G>T (p.Ala798Ser) c.2518G>T (p.Ala840Ser) c.1837G>T (p.Ala613Ser) n.2593G>T c.2767G>T (p.Ala923Ser) c.2662G>T (p.Ala888Ser) n.3268G>T | |
| 7 | g.87417497C>G | CA368061640 | ABCB4 | c.2497G>C (p.Ala833Pro) c.2392G>C (p.Ala798Pro) c.2518G>C (p.Ala840Pro) c.1837G>C (p.Ala613Pro) n.2593G>C c.2767G>C (p.Ala923Pro) c.2662G>C (p.Ala888Pro) n.3268G>C | |
| 7 | g.87417497C>T | CA368061638 | ABCB4 | c.2497G>A (p.Ala833Thr) c.2392G>A (p.Ala798Thr) c.2518G>A (p.Ala840Thr) c.1837G>A (p.Ala613Thr) n.2593G>A c.2767G>A (p.Ala923Thr) c.2662G>A (p.Ala888Thr) n.3268G>A | gnomAD v4 |
| 7 | g.87417498C>A | CA368061642 | ABCB4 | c.2496G>T (p.Leu832Phe) c.2391G>T (p.Leu797Phe) c.2517G>T (p.Leu839Phe) c.1836G>T (p.Leu612Phe) n.2592G>T c.2766G>T (p.Leu922Phe) c.2661G>T (p.Leu887Phe) n.3267G>T | |
| 7 | g.87417498C>G | CA368061644 | ABCB4 | c.2496G>C (p.Leu832Phe) c.2391G>C (p.Leu797Phe) c.2517G>C (p.Leu839Phe) c.1836G>C (p.Leu612Phe) n.2592G>C c.2766G>C (p.Leu922Phe) c.2661G>C (p.Leu887Phe) n.3267G>C | |
| 7 | g.87417498C>T | CA456358611 | ABCB4 | c.2496G>A (p.Leu832=) c.2391G>A (p.Leu797=) c.2517G>A (p.Leu839=) c.1836G>A (p.Leu612=) n.2592G>A c.2766G>A (p.Leu922=) c.2661G>A (p.Leu887=) n.3267G>A | gnomAD v4 |
| 7 | g.87417499A>C | CA368061646 | ABCB4 | c.2495T>G (p.Leu832Trp) c.2390T>G (p.Leu797Trp) c.2516T>G (p.Leu839Trp) c.1835T>G (p.Leu612Trp) n.2591T>G c.2765T>G (p.Leu922Trp) c.2660T>G (p.Leu887Trp) n.3266T>G | |
| 7 | g.87417499A>G | CA368061649 | ABCB4 | c.2495T>C (p.Leu832Ser) c.2390T>C (p.Leu797Ser) c.2516T>C (p.Leu839Ser) c.1835T>C (p.Leu612Ser) n.2591T>C c.2765T>C (p.Leu922Ser) c.2660T>C (p.Leu887Ser) n.3266T>C | |
| 7 | g.87417499A>T | CA368061648 | ABCB4 | c.2495T>A (p.Leu832Ter) c.2390T>A (p.Leu797Ter) c.2516T>A (p.Leu839Ter) c.1835T>A (p.Leu612Ter) n.2591T>A c.2765T>A (p.Leu922Ter) c.2660T>A (p.Leu887Ter) n.3266T>A | |
| 7 | g.87417500A= | CA1723579698 | ABCB4 | c.2494T= (p.Leu832=) c.2389T= (p.Leu797=) c.2515T= (p.Leu839=) c.1834T= (p.Leu612=) n.2590T= c.2764T= (p.Leu922=) c.2659T= (p.Leu887=) n.3265T= | |
| 7 | g.87417500A>C | CA368061651 | ABCB4 | c.2494T>G (p.Leu832Val) c.2389T>G (p.Leu797Val) c.2515T>G (p.Leu839Val) c.1834T>G (p.Leu612Val) n.2590T>G c.2764T>G (p.Leu922Val) c.2659T>G (p.Leu887Val) n.3265T>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.87417500A>G | CA4326990 | ABCB4 | c.2494T>C (p.Leu832=) c.2389T>C (p.Leu797=) c.2515T>C (p.Leu839=) c.1834T>C (p.Leu612=) n.2590T>C c.2764T>C (p.Leu922=) c.2659T>C (p.Leu887=) n.3265T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417500A>T | CA368061653 | ABCB4 | c.2494T>A (p.Leu832Met) c.2389T>A (p.Leu797Met) c.2515T>A (p.Leu839Met) c.1834T>A (p.Leu612Met) n.2590T>A c.2764T>A (p.Leu922Met) c.2659T>A (p.Leu887Met) n.3265T>A | |
| 7 | g.87417500_87417501delinsAC | CA1723579699 | ABCB4 | c.2493_2494delinsGT (p.Arg831=) c.2388_2389delinsGT (p.Arg796=) c.2514_2515delinsGT (p.Arg838=) c.1833_1834delinsGT (p.Arg611=) n.2589_2590delinsGT c.2763_2764delinsGT (p.Arg921=) c.2658_2659delinsGT (p.Arg886=) n.3264_3265delinsGT | |
| 7 | g.87417501C>A | CA368061654 | ABCB4 | c.2493G>T (p.Arg831Ser) c.2388G>T (p.Arg796Ser) c.2514G>T (p.Arg838Ser) c.1833G>T (p.Arg611Ser) n.2589G>T c.2763G>T (p.Arg921Ser) c.2658G>T (p.Arg886Ser) n.3264G>T | |
| 7 | g.87417501C= | CA1723579706 | ABCB4 | c.2493G= (p.Arg831=) c.2388G= (p.Arg796=) c.2514G= (p.Arg838=) c.1833G= (p.Arg611=) n.2589G= c.2763G= (p.Arg921=) c.2658G= (p.Arg886=) n.3264G= | |
| 7 | g.87417501C>G | CA368061656 | ABCB4 | c.2493G>C (p.Arg831Ser) c.2388G>C (p.Arg796Ser) c.2514G>C (p.Arg838Ser) c.1833G>C (p.Arg611Ser) n.2589G>C c.2763G>C (p.Arg921Ser) c.2658G>C (p.Arg886Ser) n.3264G>C | |
| 7 | g.87417501C>T | CA4326991 | ABCB4 | c.2493G>A (p.Arg831=) c.2388G>A (p.Arg796=) c.2514G>A (p.Arg838=) c.1833G>A (p.Arg611=) n.2589G>A c.2763G>A (p.Arg921=) c.2658G>A (p.Arg886=) n.3264G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417502del | CA576267484 | ABCB4 | c.2493del (p.Arg831SerfsTer4) c.2388del (p.Arg796SerfsTer4) c.2514del (p.Arg838SerfsTer4) c.1833del (p.Arg611SerfsTer4) n.2589del c.2763del (p.Arg921SerfsTer4) c.2658del (p.Arg886SerfsTer4) n.3264del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417502C>A | CA368061658 | ABCB4 | c.2492G>T (p.Arg831Met) c.2387G>T (p.Arg796Met) c.2513G>T (p.Arg838Met) c.1832G>T (p.Arg611Met) n.2588G>T c.2762G>T (p.Arg921Met) c.2657G>T (p.Arg886Met) n.3263G>T | gnomAD v4 |
| 7 | g.87417502C>G | CA368061661 | ABCB4 | c.2492G>C (p.Arg831Thr) c.2387G>C (p.Arg796Thr) c.2513G>C (p.Arg838Thr) c.1832G>C (p.Arg611Thr) n.2588G>C c.2762G>C (p.Arg921Thr) c.2657G>C (p.Arg886Thr) n.3263G>C | |
| 7 | g.87417502C>T | CA368061660 | ABCB4 | c.2492G>A (p.Arg831Lys) c.2387G>A (p.Arg796Lys) c.2513G>A (p.Arg838Lys) c.1832G>A (p.Arg611Lys) n.2588G>A c.2762G>A (p.Arg921Lys) c.2657G>A (p.Arg886Lys) n.3263G>A | |
| 7 | g.87417503T>A | CA368061663 | ABCB4 | c.2491A>T (p.Arg831Trp) c.2386A>T (p.Arg796Trp) c.2512A>T (p.Arg838Trp) c.1831A>T (p.Arg611Trp) n.2587A>T c.2761A>T (p.Arg921Trp) c.2656A>T (p.Arg886Trp) n.3262A>T | |
| 7 | g.87417503T>C | CA368061664 | ABCB4 | c.2491A>G (p.Arg831Gly) c.2386A>G (p.Arg796Gly) c.2512A>G (p.Arg838Gly) c.1831A>G (p.Arg611Gly) n.2587A>G c.2761A>G (p.Arg921Gly) c.2656A>G (p.Arg886Gly) n.3262A>G | |
| 7 | g.87417503T>G | CA456358612 | ABCB4 | c.2491A>C (p.Arg831=) c.2386A>C (p.Arg796=) c.2512A>C (p.Arg838=) c.1831A>C (p.Arg611=) n.2587A>C c.2761A>C (p.Arg921=) c.2656A>C (p.Arg886=) n.3262A>C | |
| 7 | g.87417504G>A | CA456358613 | ABCB4 | c.2490C>T (p.Thr830=) c.2385C>T (p.Thr795=) c.2511C>T (p.Thr837=) c.1830C>T (p.Thr610=) n.2586C>T c.2760C>T (p.Thr920=) c.2655C>T (p.Thr885=) n.3261C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.87417504G>C | CA456358614 | ABCB4 | c.2490C>G (p.Thr830=) c.2385C>G (p.Thr795=) c.2511C>G (p.Thr837=) c.1830C>G (p.Thr610=) n.2586C>G c.2760C>G (p.Thr920=) c.2655C>G (p.Thr885=) n.3261C>G | |
| 7 | g.87417504G= | CA1723579716 | ABCB4 | c.2490C= (p.Thr830=) c.2385C= (p.Thr795=) c.2511C= (p.Thr837=) c.1830C= (p.Thr610=) n.2586C= c.2760C= (p.Thr920=) c.2655C= (p.Thr885=) n.3261C= | |
| 7 | g.87417504G>T | CA456358615 | ABCB4 | c.2490C>A (p.Thr830=) c.2385C>A (p.Thr795=) c.2511C>A (p.Thr837=) c.1830C>A (p.Thr610=) n.2586C>A c.2760C>A (p.Thr920=) c.2655C>A (p.Thr885=) n.3261C>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.87417505G>A | CA368061666 | ABCB4 | c.2489C>T (p.Thr830Ile) c.2384C>T (p.Thr795Ile) c.2510C>T (p.Thr837Ile) c.1829C>T (p.Thr610Ile) n.2585C>T c.2759C>T (p.Thr920Ile) c.2654C>T (p.Thr885Ile) n.3260C>T | |
| 7 | g.87417505G>C | CA368061668 | ABCB4 | c.2489C>G (p.Thr830Ser) c.2384C>G (p.Thr795Ser) c.2510C>G (p.Thr837Ser) c.1829C>G (p.Thr610Ser) n.2585C>G c.2759C>G (p.Thr920Ser) c.2654C>G (p.Thr885Ser) n.3260C>G | |
| 7 | g.87417505G>T | CA368061669 | ABCB4 | c.2489C>A (p.Thr830Asn) c.2384C>A (p.Thr795Asn) c.2510C>A (p.Thr837Asn) c.1829C>A (p.Thr610Asn) n.2585C>A c.2759C>A (p.Thr920Asn) c.2654C>A (p.Thr885Asn) n.3260C>A | |
| 7 | g.87417506T>A | CA368061671 | ABCB4 | c.2488A>T (p.Thr830Ser) c.2383A>T (p.Thr795Ser) c.2509A>T (p.Thr837Ser) c.1828A>T (p.Thr610Ser) n.2584A>T c.2758A>T (p.Thr920Ser) c.2653A>T (p.Thr885Ser) n.3259A>T | |
| 7 | g.87417506T>C | CA368061673 | ABCB4 | c.2488A>G (p.Thr830Ala) c.2383A>G (p.Thr795Ala) c.2509A>G (p.Thr837Ala) c.1828A>G (p.Thr610Ala) n.2584A>G c.2758A>G (p.Thr920Ala) c.2653A>G (p.Thr885Ala) n.3259A>G | gnomAD v4 |
| 7 | g.87417506T>G | CA368061674 | ABCB4 | c.2488A>C (p.Thr830Pro) c.2383A>C (p.Thr795Pro) c.2509A>C (p.Thr837Pro) c.1828A>C (p.Thr610Pro) n.2584A>C c.2758A>C (p.Thr920Pro) c.2653A>C (p.Thr885Pro) n.3259A>C | |
| 7 | g.87417507dup | CA2695208139 | ABCB4 | c.2488dup (p.Thr830AsnfsTer12) c.2383dup (p.Thr795AsnfsTer12) c.2509dup (p.Thr837AsnfsTer12) c.1828dup (p.Thr610AsnfsTer12) n.2584dup c.2758dup (p.Thr920AsnfsTer12) c.2653dup (p.Thr885AsnfsTer12) n.3259dup | |
| 7 | g.87417507T>A | CA456358617 | ABCB4 | c.2487A>T (p.Gly829=) c.2382A>T (p.Gly794=) c.2508A>T (p.Gly836=) c.1827A>T (p.Gly609=) n.2583A>T c.2757A>T (p.Gly919=) c.2652A>T (p.Gly884=) n.3258A>T | gnomAD v4 |
| 7 | g.87417507T>C | CA456358618 | ABCB4 | c.2487A>G (p.Gly829=) c.2382A>G (p.Gly794=) c.2508A>G (p.Gly836=) c.1827A>G (p.Gly609=) n.2583A>G c.2757A>G (p.Gly919=) c.2652A>G (p.Gly884=) n.3258A>G | |
| 7 | g.87417507T>G | CA456358619 | ABCB4 | c.2487A>C (p.Gly829=) c.2382A>C (p.Gly794=) c.2508A>C (p.Gly836=) c.1827A>C (p.Gly609=) n.2583A>C c.2757A>C (p.Gly919=) c.2652A>C (p.Gly884=) n.3258A>C | |
| 7 | g.87417508C>A | CA368061675 | ABCB4 | c.2486G>T (p.Gly829Val) c.2381G>T (p.Gly794Val) c.2507G>T (p.Gly836Val) c.1826G>T (p.Gly609Val) n.2582G>T c.2756G>T (p.Gly919Val) c.2651G>T (p.Gly884Val) n.3257G>T | |
| 7 | g.87417508C= | CA1723579725 | ABCB4 | c.2486G= (p.Gly829=) c.2381G= (p.Gly794=) c.2507G= (p.Gly836=) c.1826G= (p.Gly609=) n.2582G= c.2756G= (p.Gly919=) c.2651G= (p.Gly884=) n.3257G= | |
| 7 | g.87417508C>G | CA368061677 | ABCB4 | c.2486G>C (p.Gly829Ala) c.2381G>C (p.Gly794Ala) c.2507G>C (p.Gly836Ala) c.1826G>C (p.Gly609Ala) n.2582G>C c.2756G>C (p.Gly919Ala) c.2651G>C (p.Gly884Ala) n.3257G>C | dbSNP |
| 7 | g.87417508C>T | CA368061678 | ABCB4 | c.2486G>A (p.Gly829Glu) c.2381G>A (p.Gly794Glu) c.2507G>A (p.Gly836Glu) c.1826G>A (p.Gly609Glu) n.2582G>A c.2756G>A (p.Gly919Glu) c.2651G>A (p.Gly884Glu) n.3257G>A | |
| 7 | g.87417509C>A | CA368061680 | ABCB4 | c.2485G>T (p.Gly829Ter) c.2380G>T (p.Gly794Ter) c.2506G>T (p.Gly836Ter) c.1825G>T (p.Gly609Ter) n.2581G>T c.2755G>T (p.Gly919Ter) c.2650G>T (p.Gly884Ter) n.3256G>T | |
| 7 | g.87417509C>G | CA368061681 | ABCB4 | c.2485G>C (p.Gly829Arg) c.2380G>C (p.Gly794Arg) c.2506G>C (p.Gly836Arg) c.1825G>C (p.Gly609Arg) n.2581G>C c.2755G>C (p.Gly919Arg) c.2650G>C (p.Gly884Arg) n.3256G>C | |
| 7 | g.87417509C>T | CA368061683 | ABCB4 | c.2485G>A (p.Gly829Arg) c.2380G>A (p.Gly794Arg) c.2506G>A (p.Gly836Arg) c.1825G>A (p.Gly609Arg) n.2581G>A c.2755G>A (p.Gly919Arg) c.2650G>A (p.Gly884Arg) n.3256G>A | |
| 7 | g.87417510T>A | CA456358621 | ABCB4 | c.2484A>T (p.Thr828=) c.2379A>T (p.Thr793=) c.2505A>T (p.Thr835=) c.1824A>T (p.Thr608=) n.2580A>T c.2754A>T (p.Thr918=) c.2649A>T (p.Thr883=) n.3255A>T | |
| 7 | g.87417510T>C | CA456358622 | ABCB4 | c.2484A>G (p.Thr828=) c.2379A>G (p.Thr793=) c.2505A>G (p.Thr835=) c.1824A>G (p.Thr608=) n.2580A>G c.2754A>G (p.Thr918=) c.2649A>G (p.Thr883=) n.3255A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.87417510T>G | CA456358623 | ABCB4 | c.2484A>C (p.Thr828=) c.2379A>C (p.Thr793=) c.2505A>C (p.Thr835=) c.1824A>C (p.Thr608=) n.2580A>C c.2754A>C (p.Thr918=) c.2649A>C (p.Thr883=) n.3255A>C | |
| 7 | g.87417511G>A | CA368061687 | ABCB4 | c.2483C>T (p.Thr828Ile) c.2378C>T (p.Thr793Ile) c.2504C>T (p.Thr835Ile) c.1823C>T (p.Thr608Ile) n.2579C>T c.2753C>T (p.Thr918Ile) c.2648C>T (p.Thr883Ile) n.3254C>T | |
| 7 | g.87417511G>C | CA368061686 | ABCB4 | c.2483C>G (p.Thr828Arg) c.2378C>G (p.Thr793Arg) c.2504C>G (p.Thr835Arg) c.1823C>G (p.Thr608Arg) n.2579C>G c.2753C>G (p.Thr918Arg) c.2648C>G (p.Thr883Arg) n.3254C>G | gnomAD v4 |
| 7 | g.87417511G>T | CA368061685 | ABCB4 | c.2483C>A (p.Thr828Lys) c.2378C>A (p.Thr793Lys) c.2504C>A (p.Thr835Lys) c.1823C>A (p.Thr608Lys) n.2579C>A c.2753C>A (p.Thr918Lys) c.2648C>A (p.Thr883Lys) n.3254C>A | |
| 7 | g.87417512T>A | CA368061689 | ABCB4 | c.2482A>T (p.Thr828Ser) c.2377A>T (p.Thr793Ser) c.2503A>T (p.Thr835Ser) c.1822A>T (p.Thr608Ser) n.2578A>T c.2752A>T (p.Thr918Ser) c.2647A>T (p.Thr883Ser) n.3253A>T | |
| 7 | g.87417512T>C | CA368061691 | ABCB4 | c.2482A>G (p.Thr828Ala) c.2377A>G (p.Thr793Ala) c.2503A>G (p.Thr835Ala) c.1822A>G (p.Thr608Ala) n.2578A>G c.2752A>G (p.Thr918Ala) c.2647A>G (p.Thr883Ala) n.3253A>G | COSMIC COSMIC |
| 7 | g.87417512T>G | CA368061692 | ABCB4 | c.2482A>C (p.Thr828Pro) c.2377A>C (p.Thr793Pro) c.2503A>C (p.Thr835Pro) c.1822A>C (p.Thr608Pro) n.2578A>C c.2752A>C (p.Thr918Pro) c.2647A>C (p.Thr883Pro) n.3253A>C | |
| 7 | g.87417513G>A | CA456358625 | ABCB4 | c.2481C>T (p.Ala827=) c.2376C>T (p.Ala792=) c.2502C>T (p.Ala834=) c.1821C>T (p.Ala607=) n.2577C>T c.2751C>T (p.Ala917=) c.2646C>T (p.Ala882=) n.3252C>T | |
| 7 | g.87417513G>C | CA456358626 | ABCB4 | c.2481C>G (p.Ala827=) c.2376C>G (p.Ala792=) c.2502C>G (p.Ala834=) c.1821C>G (p.Ala607=) n.2577C>G c.2751C>G (p.Ala917=) c.2646C>G (p.Ala882=) n.3252C>G | |
| 7 | g.87417513G>T | CA456358627 | ABCB4 | c.2481C>A (p.Ala827=) c.2376C>A (p.Ala792=) c.2502C>A (p.Ala834=) c.1821C>A (p.Ala607=) n.2577C>A c.2751C>A (p.Ala917=) c.2646C>A (p.Ala882=) n.3252C>A | |
| 7 | g.87417514G>A | CA368061694 | ABCB4 | c.2480C>T (p.Ala827Val) c.2375C>T (p.Ala792Val) c.2501C>T (p.Ala834Val) c.1820C>T (p.Ala607Val) n.2576C>T c.2750C>T (p.Ala917Val) c.2645C>T (p.Ala882Val) n.3251C>T | |
| 7 | g.87417514G>C | CA368061695 | ABCB4 | c.2480C>G (p.Ala827Gly) c.2375C>G (p.Ala792Gly) c.2501C>G (p.Ala834Gly) c.1820C>G (p.Ala607Gly) n.2576C>G c.2750C>G (p.Ala917Gly) c.2645C>G (p.Ala882Gly) n.3251C>G | |
| 7 | g.87417514G>T | CA368061696 | ABCB4 | c.2480C>A (p.Ala827Asp) c.2375C>A (p.Ala792Asp) c.2501C>A (p.Ala834Asp) c.1820C>A (p.Ala607Asp) n.2576C>A c.2750C>A (p.Ala917Asp) c.2645C>A (p.Ala882Asp) n.3251C>A | |
| 7 | g.87417515C>A | CA368061698 | ABCB4 | c.2479G>T (p.Ala827Ser) c.2374G>T (p.Ala792Ser) c.2500G>T (p.Ala834Ser) c.1819G>T (p.Ala607Ser) n.2575G>T c.2749G>T (p.Ala917Ser) c.2644G>T (p.Ala882Ser) n.3250G>T | |
| 7 | g.87417515C= | CA1723579726 | ABCB4 | c.2479G= (p.Ala827=) c.2374G= (p.Ala792=) c.2500G= (p.Ala834=) c.1819G= (p.Ala607=) n.2575G= c.2749G= (p.Ala917=) c.2644G= (p.Ala882=) n.3250G= | |
| 7 | g.87417515C>G | CA368061699 | ABCB4 | c.2479G>C (p.Ala827Pro) c.2374G>C (p.Ala792Pro) c.2500G>C (p.Ala834Pro) c.1819G>C (p.Ala607Pro) n.2575G>C c.2749G>C (p.Ala917Pro) c.2644G>C (p.Ala882Pro) n.3250G>C | |
| 7 | g.87417515C>T | CA368061701 | ABCB4 | c.2479G>A (p.Ala827Thr) c.2374G>A (p.Ala792Thr) c.2500G>A (p.Ala834Thr) c.1819G>A (p.Ala607Thr) n.2575G>A c.2749G>A (p.Ala917Thr) c.2644G>A (p.Ala882Thr) n.3250G>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.87417516C>A | CA368061703 | ABCB4 | c.2479-1G>T (n.2479-1G>T) c.2374-1G>T (n.2374-1G>T) c.2500-1G>T (n.2500-1G>T) c.1819-1G>T (n.1819-1G>T) n.2575-1G>T c.2749-1G>T (n.2749-1G>T) c.2644-1G>T (n.2644-1G>T) n.3250-1G>T | |
| 7 | g.87417516C>G | CA368061705 | ABCB4 | c.2479-1G>C (n.2479-1G>C) c.2374-1G>C (n.2374-1G>C) c.2500-1G>C (n.2500-1G>C) c.1819-1G>C (n.1819-1G>C) n.2575-1G>C c.2749-1G>C (n.2749-1G>C) c.2644-1G>C (n.2644-1G>C) n.3250-1G>C | |
| 7 | g.87417516C>T | CA368061706 | ABCB4 | c.2479-1G>A (n.2479-1G>A) c.2374-1G>A (n.2374-1G>A) c.2500-1G>A (n.2500-1G>A) c.1819-1G>A (n.1819-1G>A) n.2575-1G>A c.2749-1G>A (n.2749-1G>A) c.2644-1G>A (n.2644-1G>A) n.3250-1G>A | |
| 7 | g.87417517T>A | CA368061712 | ABCB4 | c.2479-2A>T (n.2479-2A>T) c.2374-2A>T (n.2374-2A>T) c.2500-2A>T (n.2500-2A>T) c.1819-2A>T (n.1819-2A>T) n.2575-2A>T c.2749-2A>T (n.2749-2A>T) c.2644-2A>T (n.2644-2A>T) n.3250-2A>T | |
| 7 | g.87417517T>C | CA368061710 | ABCB4 | c.2479-2A>G (n.2479-2A>G) c.2374-2A>G (n.2374-2A>G) c.2500-2A>G (n.2500-2A>G) c.1819-2A>G (n.1819-2A>G) n.2575-2A>G c.2749-2A>G (n.2749-2A>G) c.2644-2A>G (n.2644-2A>G) n.3250-2A>G | |
| 7 | g.87417517T>G | CA368061708 | ABCB4 | c.2479-2A>C (n.2479-2A>C) c.2374-2A>C (n.2374-2A>C) c.2500-2A>C (n.2500-2A>C) c.1819-2A>C (n.1819-2A>C) n.2575-2A>C c.2749-2A>C (n.2749-2A>C) c.2644-2A>C (n.2644-2A>C) n.3250-2A>C | |
| 7 | g.87417519_87417520insA | CA2776824459 | ABCB4 | c.2479-5_2479-4insT (n.2479-5_2479-4insT) c.2374-5_2374-4insT (n.2374-5_2374-4insT) c.2500-5_2500-4insT (n.2500-5_2500-4insT) c.1819-5_1819-4insT (n.1819-5_1819-4insT) n.2575-5_2575-4insT c.2749-5_2749-4insT (n.2749-5_2749-4insT) c.2644-5_2644-4insT (n.2644-5_2644-4insT) n.3250-5_3250-4insT | |
| 7 | g.87417520G>A | CA843386992 | ABCB4 | c.2479-5C>T (n.2479-5C>T) c.2374-5C>T (n.2374-5C>T) c.2500-5C>T (n.2500-5C>T) c.1819-5C>T (n.1819-5C>T) n.2575-5C>T c.2749-5C>T (n.2749-5C>T) c.2644-5C>T (n.2644-5C>T) n.3250-5C>T | dbSNP |
| 7 | g.87417520G= | CA1723579730 | ABCB4 | c.2479-5C= (n.2479-5C=) c.2374-5C= (n.2374-5C=) c.2500-5C= (n.2500-5C=) c.1819-5C= (n.1819-5C=) n.2575-5C= c.2749-5C= (n.2749-5C=) c.2644-5C= (n.2644-5C=) n.3250-5C= | |
| 7 | g.87417520G>T | CA2683599292 | ABCB4 | c.2479-5C>A (n.2479-5C>A) c.2374-5C>A (n.2374-5C>A) c.2500-5C>A (n.2500-5C>A) c.1819-5C>A (n.1819-5C>A) n.2575-5C>A c.2749-5C>A (n.2749-5C>A) c.2644-5C>A (n.2644-5C>A) n.3250-5C>A | gnomAD v4 |
| 7 | g.87417522_87417523insGAATG | CA2776824460 | ABCB4 | c.2479-7_2479-6insATTCC (n.2479-7_2479-6insATTCC) c.2374-7_2374-6insATTCC (n.2374-7_2374-6insATTCC) c.2500-7_2500-6insATTCC (n.2500-7_2500-6insATTCC) c.1819-7_1819-6insATTCC (n.1819-7_1819-6insATTCC) n.2575-7_2575-6insATTCC c.2749-7_2749-6insATTCC (n.2749-7_2749-6insATTCC) c.2644-7_2644-6insATTCC (n.2644-7_2644-6insATTCC) n.3250-7_3250-6insATTCC | |
| 7 | g.87417523A= | CA1723579731 | ABCB4 | c.2479-8T= (n.2479-8T=) c.2374-8T= (n.2374-8T=) c.2500-8T= (n.2500-8T=) c.1819-8T= (n.1819-8T=) n.2575-8T= c.2749-8T= (n.2749-8T=) c.2644-8T= (n.2644-8T=) n.3250-8T= | |
| 7 | g.87417523A>G | CA1723579732 | ABCB4 | c.2479-8T>C (n.2479-8T>C) c.2374-8T>C (n.2374-8T>C) c.2500-8T>C (n.2500-8T>C) c.1819-8T>C (n.1819-8T>C) n.2575-8T>C c.2749-8T>C (n.2749-8T>C) c.2644-8T>C (n.2644-8T>C) n.3250-8T>C | dbSNP |
| 7 | g.87417524G>T | CA2683599294 | ABCB4 | c.2479-9C>A (n.2479-9C>A) c.2374-9C>A (n.2374-9C>A) c.2500-9C>A (n.2500-9C>A) c.1819-9C>A (n.1819-9C>A) n.2575-9C>A c.2749-9C>A (n.2749-9C>A) c.2644-9C>A (n.2644-9C>A) n.3250-9C>A | gnomAD v4 |
| 7 | g.87417529del | CA2683599295 | ABCB4 | c.2479-10del (n.2479-10del) c.2374-10del (n.2374-10del) c.2500-10del (n.2500-10del) c.1819-10del (n.1819-10del) n.2575-10del c.2749-10del (n.2749-10del) c.2644-10del (n.2644-10del) n.3250-10del | gnomAD v4 |
| 7 | g.87417525_87417526insGTGT | CA2776824462 | ABCB4 | c.2479-11_2479-10insACAC (n.2479-11_2479-10insACAC) c.2374-11_2374-10insACAC (n.2374-11_2374-10insACAC) c.2500-11_2500-10insACAC (n.2500-11_2500-10insACAC) c.1819-11_1819-10insACAC (n.1819-11_1819-10insACAC) n.2575-11_2575-10insACAC c.2749-11_2749-10insACAC (n.2749-11_2749-10insACAC) c.2644-11_2644-10insACAC (n.2644-11_2644-10insACAC) n.3250-11_3250-10insACAC | |
| 7 | g.87417528A= | CA1723579733 | ABCB4 | c.2479-13T= (n.2479-13T=) c.2374-13T= (n.2374-13T=) c.2500-13T= (n.2500-13T=) c.1819-13T= (n.1819-13T=) n.2575-13T= c.2749-13T= (n.2749-13T=) c.2644-13T= (n.2644-13T=) n.3250-13T= | |
| 7 | g.87417528A>G | CA1723579734 | ABCB4 | c.2479-13T>C (n.2479-13T>C) c.2374-13T>C (n.2374-13T>C) c.2500-13T>C (n.2500-13T>C) c.1819-13T>C (n.1819-13T>C) n.2575-13T>C c.2749-13T>C (n.2749-13T>C) c.2644-13T>C (n.2644-13T>C) n.3250-13T>C | dbSNP |
| 7 | g.87417529A= | CA1723579736 | ABCB4 | c.2479-14T= (n.2479-14T=) c.2374-14T= (n.2374-14T=) c.2500-14T= (n.2500-14T=) c.1819-14T= (n.1819-14T=) n.2575-14T= c.2749-14T= (n.2749-14T=) c.2644-14T= (n.2644-14T=) n.3250-14T= | |
| 7 | g.87417529A>C | CA4326992 | ABCB4 | c.2479-14T>G (n.2479-14T>G) c.2374-14T>G (n.2374-14T>G) c.2500-14T>G (n.2500-14T>G) c.1819-14T>G (n.1819-14T>G) n.2575-14T>G c.2749-14T>G (n.2749-14T>G) c.2644-14T>G (n.2644-14T>G) n.3250-14T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417529A>G | CA2776824464 | ABCB4 | c.2479-14T>C (n.2479-14T>C) c.2374-14T>C (n.2374-14T>C) c.2500-14T>C (n.2500-14T>C) c.1819-14T>C (n.1819-14T>C) n.2575-14T>C c.2749-14T>C (n.2749-14T>C) c.2644-14T>C (n.2644-14T>C) n.3250-14T>C | |
| 7 | g.87417529_87417530delinsAG | CA1723579740 | ABCB4 | c.2479-15_2479-14delinsCT (n.2479-15_2479-14delinsCT) c.2374-15_2374-14delinsCT (n.2374-15_2374-14delinsCT) c.2500-15_2500-14delinsCT (n.2500-15_2500-14delinsCT) c.1819-15_1819-14delinsCT (n.1819-15_1819-14delinsCT) n.2575-15_2575-14delinsCT c.2749-15_2749-14delinsCT (n.2749-15_2749-14delinsCT) c.2644-15_2644-14delinsCT (n.2644-15_2644-14delinsCT) n.3250-15_3250-14delinsCT | |
| 7 | g.87417530del | CA576267485 | ABCB4 | c.2479-15del (n.2479-15del) c.2374-15del (n.2374-15del) c.2500-15del (n.2500-15del) c.1819-15del (n.1819-15del) n.2575-15del c.2749-15del (n.2749-15del) c.2644-15del (n.2644-15del) n.3250-15del | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.87417530G>A | CA162106181 | ABCB4 | c.2479-15C>T (n.2479-15C>T) c.2374-15C>T (n.2374-15C>T) c.2500-15C>T (n.2500-15C>T) c.1819-15C>T (n.1819-15C>T) n.2575-15C>T c.2749-15C>T (n.2749-15C>T) c.2644-15C>T (n.2644-15C>T) n.3250-15C>T | dbSNP |
| 7 | g.87417530G>C | CA576267486 | ABCB4 | c.2479-15C>G (n.2479-15C>G) c.2374-15C>G (n.2374-15C>G) c.2500-15C>G (n.2500-15C>G) c.1819-15C>G (n.1819-15C>G) n.2575-15C>G c.2749-15C>G (n.2749-15C>G) c.2644-15C>G (n.2644-15C>G) n.3250-15C>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.87417530G= | CA1723579749 | ABCB4 | c.2479-15C= (n.2479-15C=) c.2374-15C= (n.2374-15C=) c.2500-15C= (n.2500-15C=) c.1819-15C= (n.1819-15C=) n.2575-15C= c.2749-15C= (n.2749-15C=) c.2644-15C= (n.2644-15C=) n.3250-15C= | |
| 7 | g.87417531C= | CA1723579754 | ABCB4 | c.2479-16G= (n.2479-16G=) c.2374-16G= (n.2374-16G=) c.2500-16G= (n.2500-16G=) c.1819-16G= (n.1819-16G=) n.2575-16G= c.2749-16G= (n.2749-16G=) c.2644-16G= (n.2644-16G=) n.3250-16G= | |
| 7 | g.87417531C>T | CA843387027 | ABCB4 | c.2479-16G>A (n.2479-16G>A) c.2374-16G>A (n.2374-16G>A) c.2500-16G>A (n.2500-16G>A) c.1819-16G>A (n.1819-16G>A) n.2575-16G>A c.2749-16G>A (n.2749-16G>A) c.2644-16G>A (n.2644-16G>A) n.3250-16G>A | dbSNP gnomAD v4 |
| 7 | g.87417532A= | CA1723579761 | ABCB4 | c.2479-17T= (n.2479-17T=) c.2374-17T= (n.2374-17T=) c.2500-17T= (n.2500-17T=) c.1819-17T= (n.1819-17T=) n.2575-17T= c.2749-17T= (n.2749-17T=) c.2644-17T= (n.2644-17T=) n.3250-17T= | |
| 7 | g.87417532A>C | CA2683599301 | ABCB4 | c.2479-17T>G (n.2479-17T>G) c.2374-17T>G (n.2374-17T>G) c.2500-17T>G (n.2500-17T>G) c.1819-17T>G (n.1819-17T>G) n.2575-17T>G c.2749-17T>G (n.2749-17T>G) c.2644-17T>G (n.2644-17T>G) n.3250-17T>G | gnomAD v4 |
| 7 | g.87417532A>T | CA1723579756 | ABCB4 | c.2479-17T>A (n.2479-17T>A) c.2374-17T>A (n.2374-17T>A) c.2500-17T>A (n.2500-17T>A) c.1819-17T>A (n.1819-17T>A) n.2575-17T>A c.2749-17T>A (n.2749-17T>A) c.2644-17T>A (n.2644-17T>A) n.3250-17T>A | dbSNP |
| 7 | g.87417533C>A | CA4326993 | ABCB4 | c.2479-18G>T (n.2479-18G>T) c.2374-18G>T (n.2374-18G>T) c.2500-18G>T (n.2500-18G>T) c.1819-18G>T (n.1819-18G>T) n.2575-18G>T c.2749-18G>T (n.2749-18G>T) c.2644-18G>T (n.2644-18G>T) n.3250-18G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417533C= | CA1723579764 | ABCB4 | c.2479-18G= (n.2479-18G=) c.2374-18G= (n.2374-18G=) c.2500-18G= (n.2500-18G=) c.1819-18G= (n.1819-18G=) n.2575-18G= c.2749-18G= (n.2749-18G=) c.2644-18G= (n.2644-18G=) n.3250-18G= | |
| 7 | g.87417534A>G | CA2578940304 | ABCB4 | c.2479-19T>C (n.2479-19T>C) c.2374-19T>C (n.2374-19T>C) c.2500-19T>C (n.2500-19T>C) c.1819-19T>C (n.1819-19T>C) n.2575-19T>C c.2749-19T>C (n.2749-19T>C) c.2644-19T>C (n.2644-19T>C) n.3250-19T>C | gnomAD v4 |
| 7 | g.87417535A= | CA1723579767 | ABCB4 | c.2479-20T= (n.2479-20T=) c.2374-20T= (n.2374-20T=) c.2500-20T= (n.2500-20T=) c.1819-20T= (n.1819-20T=) n.2575-20T= c.2749-20T= (n.2749-20T=) c.2644-20T= (n.2644-20T=) n.3250-20T= | |
| 7 | g.87417535A>C | CA4326994 | ABCB4 | c.2479-20T>G (n.2479-20T>G) c.2374-20T>G (n.2374-20T>G) c.2500-20T>G (n.2500-20T>G) c.1819-20T>G (n.1819-20T>G) n.2575-20T>G c.2749-20T>G (n.2749-20T>G) c.2644-20T>G (n.2644-20T>G) n.3250-20T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417536A= | CA1723579770 | ABCB4 | c.2479-21T= (n.2479-21T=) c.2374-21T= (n.2374-21T=) c.2500-21T= (n.2500-21T=) c.1819-21T= (n.1819-21T=) n.2575-21T= c.2749-21T= (n.2749-21T=) c.2644-21T= (n.2644-21T=) n.3250-21T= | |
| 7 | g.87417536A>G | CA2683599302 | ABCB4 | c.2479-21T>C (n.2479-21T>C) c.2374-21T>C (n.2374-21T>C) c.2500-21T>C (n.2500-21T>C) c.1819-21T>C (n.1819-21T>C) n.2575-21T>C c.2749-21T>C (n.2749-21T>C) c.2644-21T>C (n.2644-21T>C) n.3250-21T>C | gnomAD v4 |
| 7 | g.87417536A>T | CA4326995 | ABCB4 | c.2479-21T>A (n.2479-21T>A) c.2374-21T>A (n.2374-21T>A) c.2500-21T>A (n.2500-21T>A) c.1819-21T>A (n.1819-21T>A) n.2575-21T>A c.2749-21T>A (n.2749-21T>A) c.2644-21T>A (n.2644-21T>A) n.3250-21T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417537G>A | CA2683599303 | ABCB4 | c.2479-22C>T (n.2479-22C>T) c.2374-22C>T (n.2374-22C>T) c.2500-22C>T (n.2500-22C>T) c.1819-22C>T (n.1819-22C>T) n.2575-22C>T c.2749-22C>T (n.2749-22C>T) c.2644-22C>T (n.2644-22C>T) n.3250-22C>T | gnomAD v4 |
| 7 | g.87417539A= | CA1723579772 | ABCB4 | c.2479-24T= (n.2479-24T=) c.2374-24T= (n.2374-24T=) c.2500-24T= (n.2500-24T=) c.1819-24T= (n.1819-24T=) n.2575-24T= c.2749-24T= (n.2749-24T=) c.2644-24T= (n.2644-24T=) n.3250-24T= | |
| 7 | g.87417539A>G | CA843387030 | ABCB4 | c.2479-24T>C (n.2479-24T>C) c.2374-24T>C (n.2374-24T>C) c.2500-24T>C (n.2500-24T>C) c.1819-24T>C (n.1819-24T>C) n.2575-24T>C c.2749-24T>C (n.2749-24T>C) c.2644-24T>C (n.2644-24T>C) n.3250-24T>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.87417540A>T | CA2683599304 | ABCB4 | c.2479-25T>A (n.2479-25T>A) c.2374-25T>A (n.2374-25T>A) c.2500-25T>A (n.2500-25T>A) c.1819-25T>A (n.1819-25T>A) n.2575-25T>A c.2749-25T>A (n.2749-25T>A) c.2644-25T>A (n.2644-25T>A) n.3250-25T>A | gnomAD v4 |
| 7 | g.87417542T>C | CA2578940305 | ABCB4 | c.2479-27A>G (n.2479-27A>G) c.2374-27A>G (n.2374-27A>G) c.2500-27A>G (n.2500-27A>G) c.1819-27A>G (n.1819-27A>G) n.2575-27A>G c.2749-27A>G (n.2749-27A>G) c.2644-27A>G (n.2644-27A>G) n.3250-27A>G | |
| 7 | g.87417543G>T | CA2683599305 | ABCB4 | c.2479-28C>A (n.2479-28C>A) c.2374-28C>A (n.2374-28C>A) c.2500-28C>A (n.2500-28C>A) c.1819-28C>A (n.1819-28C>A) n.2575-28C>A c.2749-28C>A (n.2749-28C>A) c.2644-28C>A (n.2644-28C>A) n.3250-28C>A | gnomAD v4 |
| 7 | g.87417544T>C | CA2578940306 | ABCB4 | c.2479-29A>G (n.2479-29A>G) c.2374-29A>G (n.2374-29A>G) c.2500-29A>G (n.2500-29A>G) c.1819-29A>G (n.1819-29A>G) n.2575-29A>G c.2749-29A>G (n.2749-29A>G) c.2644-29A>G (n.2644-29A>G) n.3250-29A>G | gnomAD v4 |