| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.87417343_87417344del | CA2580615908 | ABCB4 | c.2653_2654del (p.Asp885Ter) c.2548_2549del (p.Asp850Ter) c.2674_2675del (p.Asp892Ter) c.1993_1994del (p.Asp665Ter) n.2749_2750del c.2923_2924del (p.Asp975Ter) c.2818_2819del (p.Asp940Ter) n.3424_3425del | ClinVar dbSNP |
| 7 | g.87417343C>A | CA368061117 | ABCB4 | c.2651G>T (p.Arg884Ile) c.2546G>T (p.Arg849Ile) c.2672G>T (p.Arg891Ile) c.1991G>T (p.Arg664Ile) n.2747G>T c.2921G>T (p.Arg974Ile) c.2816G>T (p.Arg939Ile) n.3422G>T | |
| 7 | g.87417343C= | CA1723579369 | ABCB4 | c.2651G= (p.Arg884=) c.2546G= (p.Arg849=) c.2672G= (p.Arg891=) c.1991G= (p.Arg664=) n.2747G= c.2921G= (p.Arg974=) c.2816G= (p.Arg939=) n.3422G= | |
| 7 | g.87417343C>G | CA368061118 | ABCB4 | c.2651G>C (p.Arg884Thr) c.2546G>C (p.Arg849Thr) c.2672G>C (p.Arg891Thr) c.1991G>C (p.Arg664Thr) n.2747G>C c.2921G>C (p.Arg974Thr) c.2816G>C (p.Arg939Thr) n.3422G>C | |
| 7 | g.87417343C>T | CA368061120 | ABCB4 | c.2651G>A (p.Arg884Lys) c.2546G>A (p.Arg849Lys) c.2672G>A (p.Arg891Lys) c.1991G>A (p.Arg664Lys) n.2747G>A c.2921G>A (p.Arg974Lys) c.2816G>A (p.Arg939Lys) n.3422G>A | dbSNP |
| 7 | g.87417344T>A | CA368061123 | ABCB4 | c.2650A>T (p.Arg884Ter) c.2545A>T (p.Arg849Ter) c.2671A>T (p.Arg891Ter) c.1990A>T (p.Arg664Ter) n.2746A>T c.2920A>T (p.Arg974Ter) c.2815A>T (p.Arg939Ter) n.3421A>T | |
| 7 | g.87417344T>C | CA368061122 | ABCB4 | c.2650A>G (p.Arg884Gly) c.2545A>G (p.Arg849Gly) c.2671A>G (p.Arg891Gly) c.1990A>G (p.Arg664Gly) n.2746A>G c.2920A>G (p.Arg974Gly) c.2815A>G (p.Arg939Gly) n.3421A>G | |
| 7 | g.87417344T>G | CA456358299 | ABCB4 | c.2650A>C (p.Arg884=) c.2545A>C (p.Arg849=) c.2671A>C (p.Arg891=) c.1990A>C (p.Arg664=) n.2746A>C c.2920A>C (p.Arg974=) c.2815A>C (p.Arg939=) n.3421A>C | |
| 7 | g.87417345T>A | CA368061125 | ABCB4 | c.2649A>T (p.Lys883Asn) c.2544A>T (p.Lys848Asn) c.2670A>T (p.Lys890Asn) c.1989A>T (p.Lys663Asn) n.2745A>T c.2919A>T (p.Lys973Asn) c.2814A>T (p.Lys938Asn) n.3420A>T | |
| 7 | g.87417345T>C | CA456358300 | ABCB4 | c.2649A>G (p.Lys883=) c.2544A>G (p.Lys848=) c.2670A>G (p.Lys890=) c.1989A>G (p.Lys663=) n.2745A>G c.2919A>G (p.Lys973=) c.2814A>G (p.Lys938=) n.3420A>G | |
| 7 | g.87417345T>G | CA368061126 | ABCB4 | c.2649A>C (p.Lys883Asn) c.2544A>C (p.Lys848Asn) c.2670A>C (p.Lys890Asn) c.1989A>C (p.Lys663Asn) n.2745A>C c.2919A>C (p.Lys973Asn) c.2814A>C (p.Lys938Asn) n.3420A>C | |
| 7 | g.87417346T>A | CA368061128 | ABCB4 | c.2648A>T (p.Lys883Ile) c.2543A>T (p.Lys848Ile) c.2669A>T (p.Lys890Ile) c.1988A>T (p.Lys663Ile) n.2744A>T c.2918A>T (p.Lys973Ile) c.2813A>T (p.Lys938Ile) n.3419A>T | |
| 7 | g.87417346T>C | CA368061130 | ABCB4 | c.2648A>G (p.Lys883Arg) c.2543A>G (p.Lys848Arg) c.2669A>G (p.Lys890Arg) c.1988A>G (p.Lys663Arg) n.2744A>G c.2918A>G (p.Lys973Arg) c.2813A>G (p.Lys938Arg) n.3419A>G | |
| 7 | g.87417346T>G | CA368061131 | ABCB4 | c.2648A>C (p.Lys883Thr) c.2543A>C (p.Lys848Thr) c.2669A>C (p.Lys890Thr) c.1988A>C (p.Lys663Thr) n.2744A>C c.2918A>C (p.Lys973Thr) c.2813A>C (p.Lys938Thr) n.3419A>C | gnomAD v4 |
| 7 | g.87417347T>A | CA368061133 | ABCB4 | c.2647A>T (p.Lys883Ter) c.2542A>T (p.Lys848Ter) c.2668A>T (p.Lys890Ter) c.1987A>T (p.Lys663Ter) n.2743A>T c.2917A>T (p.Lys973Ter) c.2812A>T (p.Lys938Ter) n.3418A>T | |
| 7 | g.87417347T>C | CA368061134 | ABCB4 | c.2647A>G (p.Lys883Glu) c.2542A>G (p.Lys848Glu) c.2668A>G (p.Lys890Glu) c.1987A>G (p.Lys663Glu) n.2743A>G c.2917A>G (p.Lys973Glu) c.2812A>G (p.Lys938Glu) n.3418A>G | gnomAD v4 |
| 7 | g.87417347T>G | CA368061136 | ABCB4 | c.2647A>C (p.Lys883Gln) c.2542A>C (p.Lys848Gln) c.2668A>C (p.Lys890Gln) c.1987A>C (p.Lys663Gln) n.2743A>C c.2917A>C (p.Lys973Gln) c.2812A>C (p.Lys938Gln) n.3418A>C | |
| 7 | g.87417348G>A | CA456358306 | ABCB4 | c.2646C>T (p.Ala882=) c.2541C>T (p.Ala847=) c.2667C>T (p.Ala889=) c.1986C>T (p.Ala662=) n.2742C>T c.2916C>T (p.Ala972=) c.2811C>T (p.Ala937=) n.3417C>T | |
| 7 | g.87417348G>C | CA456358307 | ABCB4 | c.2646C>G (p.Ala882=) c.2541C>G (p.Ala847=) c.2667C>G (p.Ala889=) c.1986C>G (p.Ala662=) n.2742C>G c.2916C>G (p.Ala972=) c.2811C>G (p.Ala937=) n.3417C>G | |
| 7 | g.87417348G>T | CA456358308 | ABCB4 | c.2646C>A (p.Ala882=) c.2541C>A (p.Ala847=) c.2667C>A (p.Ala889=) c.1986C>A (p.Ala662=) n.2742C>A c.2916C>A (p.Ala972=) c.2811C>A (p.Ala937=) n.3417C>A | |
| 7 | g.87417349G>A | CA368061138 | ABCB4 | c.2645C>T (p.Ala882Val) c.2540C>T (p.Ala847Val) c.2666C>T (p.Ala889Val) c.1985C>T (p.Ala662Val) n.2741C>T c.2915C>T (p.Ala972Val) c.2810C>T (p.Ala937Val) n.3416C>T | |
| 7 | g.87417349G>C | CA368061140 | ABCB4 | c.2645C>G (p.Ala882Gly) c.2540C>G (p.Ala847Gly) c.2666C>G (p.Ala889Gly) c.1985C>G (p.Ala662Gly) n.2741C>G c.2915C>G (p.Ala972Gly) c.2810C>G (p.Ala937Gly) n.3416C>G | |
| 7 | g.87417349G>T | CA368061141 | ABCB4 | c.2645C>A (p.Ala882Asp) c.2540C>A (p.Ala847Asp) c.2666C>A (p.Ala889Asp) c.1985C>A (p.Ala662Asp) n.2741C>A c.2915C>A (p.Ala972Asp) c.2810C>A (p.Ala937Asp) n.3416C>A | |
| 7 | g.87417350C>A | CA368061143 | ABCB4 | c.2644G>T (p.Ala882Ser) c.2539G>T (p.Ala847Ser) c.2665G>T (p.Ala889Ser) c.1984G>T (p.Ala662Ser) n.2740G>T c.2914G>T (p.Ala972Ser) c.2809G>T (p.Ala937Ser) n.3415G>T | |
| 7 | g.87417350C>G | CA368061145 | ABCB4 | c.2644G>C (p.Ala882Pro) c.2539G>C (p.Ala847Pro) c.2665G>C (p.Ala889Pro) c.1984G>C (p.Ala662Pro) n.2740G>C c.2914G>C (p.Ala972Pro) c.2809G>C (p.Ala937Pro) n.3415G>C | |
| 7 | g.87417350C>T | CA368061147 | ABCB4 | c.2644G>A (p.Ala882Thr) c.2539G>A (p.Ala847Thr) c.2665G>A (p.Ala889Thr) c.1984G>A (p.Ala662Thr) n.2740G>A c.2914G>A (p.Ala972Thr) c.2809G>A (p.Ala937Thr) n.3415G>A | gnomAD v4 |
| 7 | g.87417351A>C | CA368061148 | ABCB4 | c.2643T>G (p.Asn881Lys) c.2538T>G (p.Asn846Lys) c.2664T>G (p.Asn888Lys) c.1983T>G (p.Asn661Lys) n.2739T>G c.2913T>G (p.Asn971Lys) c.2808T>G (p.Asn936Lys) n.3414T>G | |
| 7 | g.87417351A>G | CA456358315 | ABCB4 | c.2643T>C (p.Asn881=) c.2538T>C (p.Asn846=) c.2664T>C (p.Asn888=) c.1983T>C (p.Asn661=) n.2739T>C c.2913T>C (p.Asn971=) c.2808T>C (p.Asn936=) n.3414T>C | gnomAD v4 |
| 7 | g.87417351A>T | CA368061149 | ABCB4 | c.2643T>A (p.Asn881Lys) c.2538T>A (p.Asn846Lys) c.2664T>A (p.Asn888Lys) c.1983T>A (p.Asn661Lys) n.2739T>A c.2913T>A (p.Asn971Lys) c.2808T>A (p.Asn936Lys) n.3414T>A | |
| 7 | g.87417352T>A | CA368061150 | ABCB4 | c.2642A>T (p.Asn881Ile) c.2537A>T (p.Asn846Ile) c.2663A>T (p.Asn888Ile) c.1982A>T (p.Asn661Ile) n.2738A>T c.2912A>T (p.Asn971Ile) c.2807A>T (p.Asn936Ile) n.3413A>T | |
| 7 | g.87417352T>C | CA368061151 | ABCB4 | c.2642A>G (p.Asn881Ser) c.2537A>G (p.Asn846Ser) c.2663A>G (p.Asn888Ser) c.1982A>G (p.Asn661Ser) n.2738A>G c.2912A>G (p.Asn971Ser) c.2807A>G (p.Asn936Ser) n.3413A>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.87417352T>G | CA368061153 | ABCB4 | c.2642A>C (p.Asn881Thr) c.2537A>C (p.Asn846Thr) c.2663A>C (p.Asn888Thr) c.1982A>C (p.Asn661Thr) n.2738A>C c.2912A>C (p.Asn971Thr) c.2807A>C (p.Asn936Thr) n.3413A>C | |
| 7 | g.87417352T= | CA1723579374 | ABCB4 | c.2642A= (p.Asn881=) c.2537A= (p.Asn846=) c.2663A= (p.Asn888=) c.1982A= (p.Asn661=) n.2738A= c.2912A= (p.Asn971=) c.2807A= (p.Asn936=) n.3413A= | |
| 7 | g.87417353T>A | CA368061155 | ABCB4 | c.2641A>T (p.Asn881Tyr) c.2536A>T (p.Asn846Tyr) c.2662A>T (p.Asn888Tyr) c.1981A>T (p.Asn661Tyr) n.2737A>T c.2911A>T (p.Asn971Tyr) c.2806A>T (p.Asn936Tyr) n.3412A>T | |
| 7 | g.87417353T>C | CA368061157 | ABCB4 | c.2641A>G (p.Asn881Asp) c.2536A>G (p.Asn846Asp) c.2662A>G (p.Asn888Asp) c.1981A>G (p.Asn661Asp) n.2737A>G c.2911A>G (p.Asn971Asp) c.2806A>G (p.Asn936Asp) n.3412A>G | |
| 7 | g.87417353T>G | CA368061158 | ABCB4 | c.2641A>C (p.Asn881His) c.2536A>C (p.Asn846His) c.2662A>C (p.Asn888His) c.1981A>C (p.Asn661His) n.2737A>C c.2911A>C (p.Asn971His) c.2806A>C (p.Asn936His) n.3412A>C | |
| 7 | g.87417354T>A | CA456358319 | ABCB4 | c.2640A>T (p.Gly880=) c.2535A>T (p.Gly845=) c.2661A>T (p.Gly887=) c.1980A>T (p.Gly660=) n.2736A>T c.2910A>T (p.Gly970=) c.2805A>T (p.Gly935=) n.3411A>T | |
| 7 | g.87417354T>C | CA456358320 | ABCB4 | c.2640A>G (p.Gly880=) c.2535A>G (p.Gly845=) c.2661A>G (p.Gly887=) c.1980A>G (p.Gly660=) n.2736A>G c.2910A>G (p.Gly970=) c.2805A>G (p.Gly935=) n.3411A>G | gnomAD v4 |
| 7 | g.87417354T>G | CA456358321 | ABCB4 | c.2640A>C (p.Gly880=) c.2535A>C (p.Gly845=) c.2661A>C (p.Gly887=) c.1980A>C (p.Gly660=) n.2736A>C c.2910A>C (p.Gly970=) c.2805A>C (p.Gly935=) n.3411A>C | |
| 7 | g.87417355C>A | CA368061160 | ABCB4 | c.2639G>T (p.Gly880Val) c.2534G>T (p.Gly845Val) c.2660G>T (p.Gly887Val) c.1979G>T (p.Gly660Val) n.2735G>T c.2909G>T (p.Gly970Val) c.2804G>T (p.Gly935Val) n.3410G>T | |
| 7 | g.87417355C>G | CA368061162 | ABCB4 | c.2639G>C (p.Gly880Ala) c.2534G>C (p.Gly845Ala) c.2660G>C (p.Gly887Ala) c.1979G>C (p.Gly660Ala) n.2735G>C c.2909G>C (p.Gly970Ala) c.2804G>C (p.Gly935Ala) n.3410G>C | |
| 7 | g.87417355C>T | CA368061164 | ABCB4 | c.2639G>A (p.Gly880Glu) c.2534G>A (p.Gly845Glu) c.2660G>A (p.Gly887Glu) c.1979G>A (p.Gly660Glu) n.2735G>A c.2909G>A (p.Gly970Glu) c.2804G>A (p.Gly935Glu) n.3410G>A | |
| 7 | g.87417356C>A | CA368061165 | ABCB4 | c.2638G>T (p.Gly880Ter) c.2533G>T (p.Gly845Ter) c.2659G>T (p.Gly887Ter) c.1978G>T (p.Gly660Ter) n.2734G>T c.2908G>T (p.Gly970Ter) c.2803G>T (p.Gly935Ter) n.3409G>T | |
| 7 | g.87417356C>G | CA368061166 | ABCB4 | c.2638G>C (p.Gly880Arg) c.2533G>C (p.Gly845Arg) c.2659G>C (p.Gly887Arg) c.1978G>C (p.Gly660Arg) n.2734G>C c.2908G>C (p.Gly970Arg) c.2803G>C (p.Gly935Arg) n.3409G>C | |
| 7 | g.87417356C>T | CA368061168 | ABCB4 | c.2638G>A (p.Gly880Arg) c.2533G>A (p.Gly845Arg) c.2659G>A (p.Gly887Arg) c.1978G>A (p.Gly660Arg) n.2734G>A c.2908G>A (p.Gly970Arg) c.2803G>A (p.Gly935Arg) n.3409G>A | |
| 7 | g.87417357A>C | CA456358322 | ABCB4 | c.2637T>G (p.Ala879=) c.2532T>G (p.Ala844=) c.2658T>G (p.Ala886=) c.1977T>G (p.Ala659=) n.2733T>G c.2907T>G (p.Ala969=) c.2802T>G (p.Ala934=) n.3408T>G | |
| 7 | g.87417357A>G | CA456358324 | ABCB4 | c.2637T>C (p.Ala879=) c.2532T>C (p.Ala844=) c.2658T>C (p.Ala886=) c.1977T>C (p.Ala659=) n.2733T>C c.2907T>C (p.Ala969=) c.2802T>C (p.Ala934=) n.3408T>C | |
| 7 | g.87417357A>T | CA456358325 | ABCB4 | c.2637T>A (p.Ala879=) c.2532T>A (p.Ala844=) c.2658T>A (p.Ala886=) c.1977T>A (p.Ala659=) n.2733T>A c.2907T>A (p.Ala969=) c.2802T>A (p.Ala934=) n.3408T>A | |
| 7 | g.87417358G>A | CA368061172 | ABCB4 | c.2636C>T (p.Ala879Val) c.2531C>T (p.Ala844Val) c.2657C>T (p.Ala886Val) c.1976C>T (p.Ala659Val) n.2732C>T c.2906C>T (p.Ala969Val) c.2801C>T (p.Ala934Val) n.3407C>T | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.87417358G>C | CA368061173 | ABCB4 | c.2636C>G (p.Ala879Gly) c.2531C>G (p.Ala844Gly) c.2657C>G (p.Ala886Gly) c.1976C>G (p.Ala659Gly) n.2732C>G c.2906C>G (p.Ala969Gly) c.2801C>G (p.Ala934Gly) n.3407C>G | |
| 7 | g.87417358G= | CA1723579379 | ABCB4 | c.2636C= (p.Ala879=) c.2531C= (p.Ala844=) c.2657C= (p.Ala886=) c.1976C= (p.Ala659=) n.2732C= c.2906C= (p.Ala969=) c.2801C= (p.Ala934=) n.3407C= | |
| 7 | g.87417358G>T | CA368061170 | ABCB4 | c.2636C>A (p.Ala879Asp) c.2531C>A (p.Ala844Asp) c.2657C>A (p.Ala886Asp) c.1976C>A (p.Ala659Asp) n.2732C>A c.2906C>A (p.Ala969Asp) c.2801C>A (p.Ala934Asp) n.3407C>A | |
| 7 | g.87417359C>A | CA162106119 | ABCB4 | c.2635G>T (p.Ala879Ser) c.2530G>T (p.Ala844Ser) c.2656G>T (p.Ala886Ser) c.1975G>T (p.Ala659Ser) n.2731G>T c.2905G>T (p.Ala969Ser) c.2800G>T (p.Ala934Ser) n.3406G>T | dbSNP gnomAD v4 |
| 7 | g.87417359C= | CA1723579382 | ABCB4 | c.2635G= (p.Ala879=) c.2530G= (p.Ala844=) c.2656G= (p.Ala886=) c.1975G= (p.Ala659=) n.2731G= c.2905G= (p.Ala969=) c.2800G= (p.Ala934=) n.3406G= | |
| 7 | g.87417359C>G | CA368061175 | ABCB4 | c.2635G>C (p.Ala879Pro) c.2530G>C (p.Ala844Pro) c.2656G>C (p.Ala886Pro) c.1975G>C (p.Ala659Pro) n.2731G>C c.2905G>C (p.Ala969Pro) c.2800G>C (p.Ala934Pro) n.3406G>C | |
| 7 | g.87417359C>T | CA368061177 | ABCB4 | c.2635G>A (p.Ala879Thr) c.2530G>A (p.Ala844Thr) c.2656G>A (p.Ala886Thr) c.1975G>A (p.Ala659Thr) n.2731G>A c.2905G>A (p.Ala969Thr) c.2800G>A (p.Ala934Thr) n.3406G>A | |
| 7 | g.87417360C>A | CA368061179 | ABCB4 | c.2634G>T (p.Leu878Phe) c.2529G>T (p.Leu843Phe) c.2655G>T (p.Leu885Phe) c.1974G>T (p.Leu658Phe) n.2730G>T c.2904G>T (p.Leu968Phe) c.2799G>T (p.Leu933Phe) n.3405G>T | |
| 7 | g.87417360C>G | CA368061180 | ABCB4 | c.2634G>C (p.Leu878Phe) c.2529G>C (p.Leu843Phe) c.2655G>C (p.Leu885Phe) c.1974G>C (p.Leu658Phe) n.2730G>C c.2904G>C (p.Leu968Phe) c.2799G>C (p.Leu933Phe) n.3405G>C | |
| 7 | g.87417360C>T | CA456358330 | ABCB4 | c.2634G>A (p.Leu878=) c.2529G>A (p.Leu843=) c.2655G>A (p.Leu885=) c.1974G>A (p.Leu658=) n.2730G>A c.2904G>A (p.Leu968=) c.2799G>A (p.Leu933=) n.3405G>A | |
| 7 | g.87417361A>C | CA368061181 | ABCB4 | c.2633T>G (p.Leu878Trp) c.2528T>G (p.Leu843Trp) c.2654T>G (p.Leu885Trp) c.1973T>G (p.Leu658Trp) n.2729T>G c.2903T>G (p.Leu968Trp) c.2798T>G (p.Leu933Trp) n.3404T>G | |
| 7 | g.87417361A>G | CA368061183 | ABCB4 | c.2633T>C (p.Leu878Ser) c.2528T>C (p.Leu843Ser) c.2654T>C (p.Leu885Ser) c.1973T>C (p.Leu658Ser) n.2729T>C c.2903T>C (p.Leu968Ser) c.2798T>C (p.Leu933Ser) n.3404T>C | |
| 7 | g.87417361A>T | CA368061185 | ABCB4 | c.2633T>A (p.Leu878Ter) c.2528T>A (p.Leu843Ter) c.2654T>A (p.Leu885Ter) c.1973T>A (p.Leu658Ter) n.2729T>A c.2903T>A (p.Leu968Ter) c.2798T>A (p.Leu933Ter) n.3404T>A | |
| 7 | g.87417362A= | CA1723579385 | ABCB4 | c.2632T= (p.Leu878=) c.2527T= (p.Leu843=) c.2653T= (p.Leu885=) c.1972T= (p.Leu658=) n.2728T= c.2902T= (p.Leu968=) c.2797T= (p.Leu933=) n.3403T= | |
| 7 | g.87417362A>C | CA368061186 | ABCB4 | c.2632T>G (p.Leu878Val) c.2527T>G (p.Leu843Val) c.2653T>G (p.Leu885Val) c.1972T>G (p.Leu658Val) n.2728T>G c.2902T>G (p.Leu968Val) c.2797T>G (p.Leu933Val) n.3403T>G | |
| 7 | g.87417362A>G | CA456358335 | ABCB4 | c.2632T>C (p.Leu878=) c.2527T>C (p.Leu843=) c.2653T>C (p.Leu885=) c.1972T>C (p.Leu658=) n.2728T>C c.2902T>C (p.Leu968=) c.2797T>C (p.Leu933=) n.3403T>C | |
| 7 | g.87417362A>T | CA368061188 | ABCB4 | c.2632T>A (p.Leu878Met) c.2527T>A (p.Leu843Met) c.2653T>A (p.Leu885Met) c.1972T>A (p.Leu658Met) n.2728T>A c.2902T>A (p.Leu968Met) c.2797T>A (p.Leu933Met) n.3403T>A | dbSNP |
| 7 | g.87417363C>A | CA368061189 | ABCB4 | c.2631G>T (p.Leu877Phe) c.2526G>T (p.Leu842Phe) c.2652G>T (p.Leu884Phe) c.1971G>T (p.Leu657Phe) n.2727G>T c.2901G>T (p.Leu967Phe) c.2796G>T (p.Leu932Phe) n.3402G>T | dbSNP |
| 7 | g.87417363C= | CA1723579388 | ABCB4 | c.2631G= (p.Leu877=) c.2526G= (p.Leu842=) c.2652G= (p.Leu884=) c.1971G= (p.Leu657=) n.2727G= c.2901G= (p.Leu967=) c.2796G= (p.Leu932=) n.3402G= | |
| 7 | g.87417363C>G | CA368061191 | ABCB4 | c.2631G>C (p.Leu877Phe) c.2526G>C (p.Leu842Phe) c.2652G>C (p.Leu884Phe) c.1971G>C (p.Leu657Phe) n.2727G>C c.2901G>C (p.Leu967Phe) c.2796G>C (p.Leu932Phe) n.3402G>C | |
| 7 | g.87417363C>T | CA456358341 | ABCB4 | c.2631G>A (p.Leu877=) c.2526G>A (p.Leu842=) c.2652G>A (p.Leu884=) c.1971G>A (p.Leu657=) n.2727G>A c.2901G>A (p.Leu967=) c.2796G>A (p.Leu932=) n.3402G>A | |
| 7 | g.87417364A>C | CA368061196 | ABCB4 | c.2630T>G (p.Leu877Trp) c.2525T>G (p.Leu842Trp) c.2651T>G (p.Leu884Trp) c.1970T>G (p.Leu657Trp) n.2726T>G c.2900T>G (p.Leu967Trp) c.2795T>G (p.Leu932Trp) n.3401T>G | |
| 7 | g.87417364A>G | CA368061194 | ABCB4 | c.2630T>C (p.Leu877Ser) c.2525T>C (p.Leu842Ser) c.2651T>C (p.Leu884Ser) c.1970T>C (p.Leu657Ser) n.2726T>C c.2900T>C (p.Leu967Ser) c.2795T>C (p.Leu932Ser) n.3401T>C | gnomAD v4 |
| 7 | g.87417364A>T | CA368061193 | ABCB4 | c.2630T>A (p.Leu877Ter) c.2525T>A (p.Leu842Ter) c.2651T>A (p.Leu884Ter) c.1970T>A (p.Leu657Ter) n.2726T>A c.2900T>A (p.Leu967Ter) c.2795T>A (p.Leu932Ter) n.3401T>A | |
| 7 | g.87417365A>C | CA368061197 | ABCB4 | c.2629T>G (p.Leu877Val) c.2524T>G (p.Leu842Val) c.2650T>G (p.Leu884Val) c.1969T>G (p.Leu657Val) n.2725T>G c.2899T>G (p.Leu967Val) c.2794T>G (p.Leu932Val) n.3400T>G | |
| 7 | g.87417365A>G | CA456358342 | ABCB4 | c.2629T>C (p.Leu877=) c.2524T>C (p.Leu842=) c.2650T>C (p.Leu884=) c.1969T>C (p.Leu657=) n.2725T>C c.2899T>C (p.Leu967=) c.2794T>C (p.Leu932=) n.3400T>C | |
| 7 | g.87417365A>T | CA368061199 | ABCB4 | c.2629T>A (p.Leu877Met) c.2524T>A (p.Leu842Met) c.2650T>A (p.Leu884Met) c.1969T>A (p.Leu657Met) n.2725T>A c.2899T>A (p.Leu967Met) c.2794T>A (p.Leu932Met) n.3400T>A | COSMIC COSMIC |
| 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.87417366T>A | CA368061200 | ABCB4 | c.2628A>T (p.Lys876Asn) c.2523A>T (p.Lys841Asn) c.2649A>T (p.Lys883Asn) c.1968A>T (p.Lys656Asn) n.2724A>T c.2898A>T (p.Lys966Asn) c.2793A>T (p.Lys931Asn) n.3399A>T | COSMIC COSMIC |
| 7 | g.87417366T>C | CA456358348 | ABCB4 | c.2628A>G (p.Lys876=) c.2523A>G (p.Lys841=) c.2649A>G (p.Lys883=) c.1968A>G (p.Lys656=) n.2724A>G c.2898A>G (p.Lys966=) c.2793A>G (p.Lys931=) n.3399A>G | |
| 7 | g.87417366T>G | CA368061201 | ABCB4 | c.2628A>C (p.Lys876Asn) c.2523A>C (p.Lys841Asn) c.2649A>C (p.Lys883Asn) c.1968A>C (p.Lys656Asn) n.2724A>C c.2898A>C (p.Lys966Asn) c.2793A>C (p.Lys931Asn) n.3399A>C | |
| 7 | g.87417368del | CA2578940300 | ABCB4 | c.2628del (p.Lys876AsnfsTer25) c.2523del (p.Lys841AsnfsTer25) c.2649del (p.Lys883AsnfsTer25) c.1968del (p.Lys656AsnfsTer25) n.2724del c.2898del (p.Lys966AsnfsTer25) c.2793del (p.Lys931AsnfsTer25) n.3399del | gnomAD v4 |
| 7 | g.87417367T>A | CA368061202 | ABCB4 | c.2627A>T (p.Lys876Ile) c.2522A>T (p.Lys841Ile) c.2648A>T (p.Lys883Ile) c.1967A>T (p.Lys656Ile) n.2723A>T c.2897A>T (p.Lys966Ile) c.2792A>T (p.Lys931Ile) n.3398A>T | |
| 7 | g.87417367T>C | CA368061203 | ABCB4 | c.2627A>G (p.Lys876Arg) c.2522A>G (p.Lys841Arg) c.2648A>G (p.Lys883Arg) c.1967A>G (p.Lys656Arg) n.2723A>G c.2897A>G (p.Lys966Arg) c.2792A>G (p.Lys931Arg) n.3398A>G | |
| 7 | g.87417367T>G | CA368061204 | ABCB4 | c.2627A>C (p.Lys876Thr) c.2522A>C (p.Lys841Thr) c.2648A>C (p.Lys883Thr) c.1967A>C (p.Lys656Thr) n.2723A>C c.2897A>C (p.Lys966Thr) c.2792A>C (p.Lys931Thr) n.3398A>C | |
| 7 | g.87417368T>A | CA10605868 | ABCB4 | c.2626A>T (p.Lys876Ter) c.2521A>T (p.Lys841Ter) c.2647A>T (p.Lys883Ter) c.1966A>T (p.Lys656Ter) n.2722A>T c.2896A>T (p.Lys966Ter) c.2791A>T (p.Lys931Ter) n.3397A>T | ClinVar dbSNP |
| 7 | g.87417368T>C | CA368061207 | ABCB4 | c.2626A>G (p.Lys876Glu) c.2521A>G (p.Lys841Glu) c.2647A>G (p.Lys883Glu) c.1966A>G (p.Lys656Glu) n.2722A>G c.2896A>G (p.Lys966Glu) c.2791A>G (p.Lys931Glu) n.3397A>G | |
| 7 | g.87417368T>G | CA368061208 | ABCB4 | c.2626A>C (p.Lys876Gln) c.2521A>C (p.Lys841Gln) c.2647A>C (p.Lys883Gln) c.1966A>C (p.Lys656Gln) n.2722A>C c.2896A>C (p.Lys966Gln) c.2791A>C (p.Lys931Gln) n.3397A>C | |
| 7 | g.87417368T= | CA1723579395 | ABCB4 | c.2626A= (p.Lys876=) c.2521A= (p.Lys841=) c.2647A= (p.Lys883=) c.1966A= (p.Lys656=) n.2722A= c.2896A= (p.Lys966=) c.2791A= (p.Lys931=) n.3397A= | |
| 7 | g.87417368_87417369delinsAT | CA10605878 | ABCB4 | c.2625_2626delinsAT (p.Met875IlefsTer2) c.2520_2521delinsAT (p.Met840IlefsTer2) c.2646_2647delinsAT (p.Met882IlefsTer2) c.1965_1966delinsAT (p.Met655IlefsTer2) n.2721_2722delinsAT c.2895_2896delinsAT (p.Met965IlefsTer2) c.2790_2791delinsAT (p.Met930IlefsTer2) n.3396_3397delinsAT | ClinVar dbSNP |
| 7 | g.87417368_87417369delinsTC | CA1723579398 | ABCB4 | c.2625_2626delinsGA (p.Met875=) c.2520_2521delinsGA (p.Met840=) c.2646_2647delinsGA (p.Met882=) c.1965_1966delinsGA (p.Met655=) n.2721_2722delinsGA c.2895_2896delinsGA (p.Met965=) c.2790_2791delinsGA (p.Met930=) n.3396_3397delinsGA | |
| 7 | g.87417369C>A | CA368061210 | ABCB4 | c.2625G>T (p.Met875Ile) c.2520G>T (p.Met840Ile) c.2646G>T (p.Met882Ile) c.1965G>T (p.Met655Ile) n.2721G>T c.2895G>T (p.Met965Ile) c.2790G>T (p.Met930Ile) n.3396G>T | |
| 7 | g.87417369C= | CA1723579407 | ABCB4 | c.2625G= (p.Met875=) c.2520G= (p.Met840=) c.2646G= (p.Met882=) c.1965G= (p.Met655=) n.2721G= c.2895G= (p.Met965=) c.2790G= (p.Met930=) n.3396G= | |
| 7 | g.87417369C>G | CA368061212 | ABCB4 | c.2625G>C (p.Met875Ile) c.2520G>C (p.Met840Ile) c.2646G>C (p.Met882Ile) c.1965G>C (p.Met655Ile) n.2721G>C c.2895G>C (p.Met965Ile) c.2790G>C (p.Met930Ile) n.3396G>C | |
| 7 | g.87417369C>T | CA10605870 | ABCB4 | c.2625G>A (p.Met875Ile) c.2520G>A (p.Met840Ile) c.2646G>A (p.Met882Ile) c.1965G>A (p.Met655Ile) n.2721G>A c.2895G>A (p.Met965Ile) c.2790G>A (p.Met930Ile) n.3396G>A | ClinVar dbSNP |
| 7 | g.87417370A>C | CA368061217 | ABCB4 | c.2624T>G (p.Met875Arg) c.2519T>G (p.Met840Arg) c.2645T>G (p.Met882Arg) c.1964T>G (p.Met655Arg) n.2720T>G c.2894T>G (p.Met965Arg) c.2789T>G (p.Met930Arg) n.3395T>G | |
| 7 | g.87417370A>G | CA368061218 | ABCB4 | c.2624T>C (p.Met875Thr) c.2519T>C (p.Met840Thr) c.2645T>C (p.Met882Thr) c.1964T>C (p.Met655Thr) n.2720T>C c.2894T>C (p.Met965Thr) c.2789T>C (p.Met930Thr) n.3395T>C | gnomAD v4 |
| 7 | g.87417370A>T | CA368061215 | ABCB4 | c.2624T>A (p.Met875Lys) c.2519T>A (p.Met840Lys) c.2645T>A (p.Met882Lys) c.1964T>A (p.Met655Lys) n.2720T>A c.2894T>A (p.Met965Lys) c.2789T>A (p.Met930Lys) n.3395T>A | |
| 7 | g.87417371T>A | CA368061220 | ABCB4 | c.2623A>T (p.Met875Leu) c.2518A>T (p.Met840Leu) c.2644A>T (p.Met882Leu) c.1963A>T (p.Met655Leu) n.2719A>T c.2893A>T (p.Met965Leu) c.2788A>T (p.Met930Leu) n.3394A>T | |
| 7 | g.87417371T>C | CA368061222 | ABCB4 | c.2623A>G (p.Met875Val) c.2518A>G (p.Met840Val) c.2644A>G (p.Met882Val) c.1963A>G (p.Met655Val) n.2719A>G c.2893A>G (p.Met965Val) c.2788A>G (p.Met930Val) n.3394A>G | |
| 7 | g.87417371T>G | CA368061224 | ABCB4 | c.2623A>C (p.Met875Leu) c.2518A>C (p.Met840Leu) c.2644A>C (p.Met882Leu) c.1963A>C (p.Met655Leu) n.2719A>C c.2893A>C (p.Met965Leu) c.2788A>C (p.Met930Leu) n.3394A>C | |
| 7 | g.87417372T>A | CA368061226 | ABCB4 | c.2622A>T (p.Glu874Asp) c.2517A>T (p.Glu839Asp) c.2643A>T (p.Glu881Asp) c.1962A>T (p.Glu654Asp) n.2718A>T c.2892A>T (p.Glu964Asp) c.2787A>T (p.Glu929Asp) n.3393A>T | |
| 7 | g.87417372T>C | CA456358361 | ABCB4 | c.2622A>G (p.Glu874=) c.2517A>G (p.Glu839=) c.2643A>G (p.Glu881=) c.1962A>G (p.Glu654=) n.2718A>G c.2892A>G (p.Glu964=) c.2787A>G (p.Glu929=) n.3393A>G | |
| 7 | g.87417372T>G | CA368061227 | ABCB4 | c.2622A>C (p.Glu874Asp) c.2517A>C (p.Glu839Asp) c.2643A>C (p.Glu881Asp) c.1962A>C (p.Glu654Asp) n.2718A>C c.2892A>C (p.Glu964Asp) c.2787A>C (p.Glu929Asp) n.3393A>C | |
| 7 | g.87417373T>A | CA368061229 | ABCB4 | c.2621A>T (p.Glu874Val) c.2516A>T (p.Glu839Val) c.2642A>T (p.Glu881Val) c.1961A>T (p.Glu654Val) n.2717A>T c.2891A>T (p.Glu964Val) c.2786A>T (p.Glu929Val) n.3392A>T | |
| 7 | g.87417373T>C | CA368061231 | ABCB4 | c.2621A>G (p.Glu874Gly) c.2516A>G (p.Glu839Gly) c.2642A>G (p.Glu881Gly) c.1961A>G (p.Glu654Gly) n.2717A>G c.2891A>G (p.Glu964Gly) c.2786A>G (p.Glu929Gly) n.3392A>G | |
| 7 | g.87417373T>G | CA368061232 | ABCB4 | c.2621A>C (p.Glu874Ala) c.2516A>C (p.Glu839Ala) c.2642A>C (p.Glu881Ala) c.1961A>C (p.Glu654Ala) n.2717A>C c.2891A>C (p.Glu964Ala) c.2786A>C (p.Glu929Ala) n.3392A>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.87417373T= | CA1723579412 | ABCB4 | c.2621A= (p.Glu874=) c.2516A= (p.Glu839=) c.2642A= (p.Glu881=) c.1961A= (p.Glu654=) n.2717A= c.2891A= (p.Glu964=) c.2786A= (p.Glu929=) n.3392A= | |
| 7 | g.87417374C>A | CA368061233 | ABCB4 | c.2620G>T (p.Glu874Ter) c.2515G>T (p.Glu839Ter) c.2641G>T (p.Glu881Ter) c.1960G>T (p.Glu654Ter) n.2716G>T c.2890G>T (p.Glu964Ter) c.2785G>T (p.Glu929Ter) n.3391G>T | |
| 7 | g.87417374C>G | CA368061235 | ABCB4 | c.2620G>C (p.Glu874Gln) c.2515G>C (p.Glu839Gln) c.2641G>C (p.Glu881Gln) c.1960G>C (p.Glu654Gln) n.2716G>C c.2890G>C (p.Glu964Gln) c.2785G>C (p.Glu929Gln) n.3391G>C | |
| 7 | g.87417374C>T | CA368061236 | ABCB4 | c.2620G>A (p.Glu874Lys) c.2515G>A (p.Glu839Lys) c.2641G>A (p.Glu881Lys) c.1960G>A (p.Glu654Lys) n.2716G>A c.2890G>A (p.Glu964Lys) c.2785G>A (p.Glu929Lys) n.3391G>A | |
| 7 | g.87417375A= | CA1723579420 | ABCB4 | c.2619T= (p.Val873=) c.2514T= (p.Val838=) c.2640T= (p.Val880=) c.1959T= (p.Val653=) n.2715T= c.2889T= (p.Val963=) c.2784T= (p.Val928=) n.3390T= | |
| 7 | g.87417375A>C | CA4326974 | ABCB4 | c.2619T>G (p.Val873=) c.2514T>G (p.Val838=) c.2640T>G (p.Val880=) c.1959T>G (p.Val653=) n.2715T>G c.2889T>G (p.Val963=) c.2784T>G (p.Val928=) n.3390T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417375A>G | CA456358366 | ABCB4 | c.2619T>C (p.Val873=) c.2514T>C (p.Val838=) c.2640T>C (p.Val880=) c.1959T>C (p.Val653=) n.2715T>C c.2889T>C (p.Val963=) c.2784T>C (p.Val928=) n.3390T>C | |
| 7 | g.87417375A>T | CA456358365 | ABCB4 | c.2619T>A (p.Val873=) c.2514T>A (p.Val838=) c.2640T>A (p.Val880=) c.1959T>A (p.Val653=) n.2715T>A c.2889T>A (p.Val963=) c.2784T>A (p.Val928=) n.3390T>A | |
| 7 | g.87417376A= | CA1723579426 | ABCB4 | c.2618T= (p.Val873=) c.2513T= (p.Val838=) c.2639T= (p.Val880=) c.1958T= (p.Val653=) n.2714T= c.2888T= (p.Val963=) c.2783T= (p.Val928=) n.3389T= | |
| 7 | g.87417376A>C | CA368061241 | ABCB4 | c.2618T>G (p.Val873Gly) c.2513T>G (p.Val838Gly) c.2639T>G (p.Val880Gly) c.1958T>G (p.Val653Gly) n.2714T>G c.2888T>G (p.Val963Gly) c.2783T>G (p.Val928Gly) n.3389T>G | |
| 7 | g.87417376A>G | CA4326975 | ABCB4 | c.2618T>C (p.Val873Ala) c.2513T>C (p.Val838Ala) c.2639T>C (p.Val880Ala) c.1958T>C (p.Val653Ala) n.2714T>C c.2888T>C (p.Val963Ala) c.2783T>C (p.Val928Ala) n.3389T>C | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.87417376A>T | CA368061239 | ABCB4 | c.2618T>A (p.Val873Asp) c.2513T>A (p.Val838Asp) c.2639T>A (p.Val880Asp) c.1958T>A (p.Val653Asp) n.2714T>A c.2888T>A (p.Val963Asp) c.2783T>A (p.Val928Asp) n.3389T>A | |
| 7 | g.87417377C>A | CA368061243 | ABCB4 | c.2617G>T (p.Val873Phe) c.2512G>T (p.Val838Phe) c.2638G>T (p.Val880Phe) c.1957G>T (p.Val653Phe) n.2713G>T c.2887G>T (p.Val963Phe) c.2782G>T (p.Val928Phe) n.3388G>T | gnomAD v4 |
| 7 | g.87417377C>G | CA368061245 | ABCB4 | c.2617G>C (p.Val873Leu) c.2512G>C (p.Val838Leu) c.2638G>C (p.Val880Leu) c.1957G>C (p.Val653Leu) n.2713G>C c.2887G>C (p.Val963Leu) c.2782G>C (p.Val928Leu) n.3388G>C | |
| 7 | g.87417377C>T | CA368061246 | ABCB4 | c.2617G>A (p.Val873Ile) c.2512G>A (p.Val838Ile) c.2638G>A (p.Val880Ile) c.1957G>A (p.Val653Ile) n.2713G>A c.2887G>A (p.Val963Ile) c.2782G>A (p.Val928Ile) n.3388G>A | |
| 7 | g.87417378A= | CA1723579430 | ABCB4 | c.2616T= (p.Ile872=) c.2511T= (p.Ile837=) c.2637T= (p.Ile879=) c.1956T= (p.Ile652=) n.2712T= c.2886T= (p.Ile962=) c.2781T= (p.Ile927=) n.3387T= | |
| 7 | g.87417378A>C | CA368061247 | ABCB4 | c.2616T>G (p.Ile872Met) c.2511T>G (p.Ile837Met) c.2637T>G (p.Ile879Met) c.1956T>G (p.Ile652Met) n.2712T>G c.2886T>G (p.Ile962Met) c.2781T>G (p.Ile927Met) n.3387T>G | |
| 7 | g.87417378A>G | CA456358375 | ABCB4 | c.2616T>C (p.Ile872=) c.2511T>C (p.Ile837=) c.2637T>C (p.Ile879=) c.1956T>C (p.Ile652=) n.2712T>C c.2886T>C (p.Ile962=) c.2781T>C (p.Ile927=) n.3387T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87417378A>T | CA456358373 | ABCB4 | c.2616T>A (p.Ile872=) c.2511T>A (p.Ile837=) c.2637T>A (p.Ile879=) c.1956T>A (p.Ile652=) n.2712T>A c.2886T>A (p.Ile962=) c.2781T>A (p.Ile927=) n.3387T>A | |
| 7 | g.87417379del | CA2683599205 | ABCB4 | c.2616del (p.Ile872MetfsTer4) c.2511del (p.Ile837MetfsTer4) c.2637del (p.Ile879MetfsTer4) c.1956del (p.Ile652MetfsTer4) n.2712del c.2886del (p.Ile962MetfsTer4) c.2781del (p.Ile927MetfsTer4) n.3387del | gnomAD v4 |
| 7 | g.87417379A>C | CA368061249 | ABCB4 | c.2615T>G (p.Ile872Ser) c.2510T>G (p.Ile837Ser) c.2636T>G (p.Ile879Ser) c.1955T>G (p.Ile652Ser) n.2711T>G c.2885T>G (p.Ile962Ser) c.2780T>G (p.Ile927Ser) n.3386T>G | |
| 7 | g.87417379A>G | CA368061251 | ABCB4 | c.2615T>C (p.Ile872Thr) c.2510T>C (p.Ile837Thr) c.2636T>C (p.Ile879Thr) c.1955T>C (p.Ile652Thr) n.2711T>C c.2885T>C (p.Ile962Thr) c.2780T>C (p.Ile927Thr) n.3386T>C | COSMIC COSMIC |
| 7 | g.87417379A>T | CA368061253 | ABCB4 | c.2615T>A (p.Ile872Asn) c.2510T>A (p.Ile837Asn) c.2636T>A (p.Ile879Asn) c.1955T>A (p.Ile652Asn) n.2711T>A c.2885T>A (p.Ile962Asn) c.2780T>A (p.Ile927Asn) n.3386T>A | |
| 7 | g.87417380T>A | CA368061254 | ABCB4 | c.2614A>T (p.Ile872Phe) c.2509A>T (p.Ile837Phe) c.2635A>T (p.Ile879Phe) c.1954A>T (p.Ile652Phe) n.2710A>T c.2884A>T (p.Ile962Phe) c.2779A>T (p.Ile927Phe) n.3385A>T | |
| 7 | g.87417380T>C | CA368061255 | ABCB4 | c.2614A>G (p.Ile872Val) c.2509A>G (p.Ile837Val) c.2635A>G (p.Ile879Val) c.1954A>G (p.Ile652Val) n.2710A>G c.2884A>G (p.Ile962Val) c.2779A>G (p.Ile927Val) n.3385A>G | |
| 7 | g.87417380T>G | CA368061257 | ABCB4 | c.2614A>C (p.Ile872Leu) c.2509A>C (p.Ile837Leu) c.2635A>C (p.Ile879Leu) c.1954A>C (p.Ile652Leu) n.2710A>C c.2884A>C (p.Ile962Leu) c.2779A>C (p.Ile927Leu) n.3385A>C | dbSNP gnomAD v3 gnomAD v4 |
| 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 |