Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.87417312C>A | CA368061010 | ABCB4 | c.2682G>T (p.Lys894Asn) c.2577G>T (p.Lys859Asn) c.2703G>T (p.Lys901Asn) c.2022G>T (p.Lys674Asn) n.2778G>T c.2952G>T (p.Lys984Asn) c.2847G>T (p.Lys949Asn) n.3453G>T | |
7 | g.87417312C>G | CA368061011 | ABCB4 | c.2682G>C (p.Lys894Asn) c.2577G>C (p.Lys859Asn) c.2703G>C (p.Lys901Asn) c.2022G>C (p.Lys674Asn) n.2778G>C c.2952G>C (p.Lys984Asn) c.2847G>C (p.Lys949Asn) n.3453G>C | |
7 | g.87417312C>T | CA456358238 | ABCB4 | c.2682G>A (p.Lys894=) c.2577G>A (p.Lys859=) c.2703G>A (p.Lys901=) c.2022G>A (p.Lys674=) n.2778G>A c.2952G>A (p.Lys984=) c.2847G>A (p.Lys949=) n.3453G>A | |
7 | g.87417313T>A | CA368061012 | ABCB4 | c.2681A>T (p.Lys894Met) c.2576A>T (p.Lys859Met) c.2702A>T (p.Lys901Met) c.2021A>T (p.Lys674Met) n.2777A>T c.2951A>T (p.Lys984Met) c.2846A>T (p.Lys949Met) n.3452A>T | |
7 | g.87417313T>C | CA368061013 | ABCB4 | c.2681A>G (p.Lys894Arg) c.2576A>G (p.Lys859Arg) c.2702A>G (p.Lys901Arg) c.2021A>G (p.Lys674Arg) n.2777A>G c.2951A>G (p.Lys984Arg) c.2846A>G (p.Lys949Arg) n.3452A>G | |
7 | g.87417313T>G | CA368061014 | ABCB4 | c.2681A>C (p.Lys894Thr) c.2576A>C (p.Lys859Thr) c.2702A>C (p.Lys901Thr) c.2021A>C (p.Lys674Thr) n.2777A>C c.2951A>C (p.Lys984Thr) c.2846A>C (p.Lys949Thr) n.3452A>C | |
7 | g.87417314T>A | CA368061015 | ABCB4 | c.2680A>T (p.Lys894Ter) c.2575A>T (p.Lys859Ter) c.2701A>T (p.Lys901Ter) c.2020A>T (p.Lys674Ter) n.2776A>T c.2950A>T (p.Lys984Ter) c.2845A>T (p.Lys949Ter) n.3451A>T | |
7 | g.87417314T>C | CA368061016 | ABCB4 | c.2680A>G (p.Lys894Glu) c.2575A>G (p.Lys859Glu) c.2701A>G (p.Lys901Glu) c.2020A>G (p.Lys674Glu) n.2776A>G c.2950A>G (p.Lys984Glu) c.2845A>G (p.Lys949Glu) n.3451A>G | |
7 | g.87417314T>G | CA368061017 | ABCB4 | c.2680A>C (p.Lys894Gln) c.2575A>C (p.Lys859Gln) c.2701A>C (p.Lys901Gln) c.2020A>C (p.Lys674Gln) n.2776A>C c.2950A>C (p.Lys984Gln) c.2845A>C (p.Lys949Gln) n.3451A>C | |
7 | g.87417315T>A | CA456358245 | ABCB4 | c.2679A>T (p.Gly893=) c.2574A>T (p.Gly858=) c.2700A>T (p.Gly900=) c.2019A>T (p.Gly673=) n.2775A>T c.2949A>T (p.Gly983=) c.2844A>T (p.Gly948=) n.3450A>T | |
7 | g.87417315T>C | CA456358244 | ABCB4 | c.2679A>G (p.Gly893=) c.2574A>G (p.Gly858=) c.2700A>G (p.Gly900=) c.2019A>G (p.Gly673=) n.2775A>G c.2949A>G (p.Gly983=) c.2844A>G (p.Gly948=) n.3450A>G | ClinVar |
7 | g.87417315T>G | CA456358243 | ABCB4 | c.2679A>C (p.Gly893=) c.2574A>C (p.Gly858=) c.2700A>C (p.Gly900=) c.2019A>C (p.Gly673=) n.2775A>C c.2949A>C (p.Gly983=) c.2844A>C (p.Gly948=) n.3450A>C | gnomAD v4 |
7 | g.87417316C>A | CA368061019 | ABCB4 | c.2678G>T (p.Gly893Val) c.2573G>T (p.Gly858Val) c.2699G>T (p.Gly900Val) c.2018G>T (p.Gly673Val) n.2774G>T c.2948G>T (p.Gly983Val) c.2843G>T (p.Gly948Val) n.3449G>T | |
7 | g.87417316C= | CA1723579330 | ABCB4 | c.2678G= (p.Gly893=) c.2573G= (p.Gly858=) c.2699G= (p.Gly900=) c.2018G= (p.Gly673=) n.2774G= c.2948G= (p.Gly983=) c.2843G= (p.Gly948=) n.3449G= | |
7 | g.87417316C>G | CA368061021 | ABCB4 | c.2678G>C (p.Gly893Ala) c.2573G>C (p.Gly858Ala) c.2699G>C (p.Gly900Ala) c.2018G>C (p.Gly673Ala) n.2774G>C c.2948G>C (p.Gly983Ala) c.2843G>C (p.Gly948Ala) n.3449G>C | dbSNP |
7 | g.87417316C>T | CA368061023 | ABCB4 | c.2678G>A (p.Gly893Glu) c.2573G>A (p.Gly858Glu) c.2699G>A (p.Gly900Glu) c.2018G>A (p.Gly673Glu) n.2774G>A c.2948G>A (p.Gly983Glu) c.2843G>A (p.Gly948Glu) n.3449G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.87417317C>A | CA368061024 | ABCB4 | c.2677G>T (p.Gly893Ter) c.2572G>T (p.Gly858Ter) c.2698G>T (p.Gly900Ter) c.2017G>T (p.Gly673Ter) n.2773G>T c.2947G>T (p.Gly983Ter) c.2842G>T (p.Gly948Ter) n.3448G>T | |
7 | g.87417317C= | CA1723579333 | ABCB4 | c.2677G= (p.Gly893=) c.2572G= (p.Gly858=) c.2698G= (p.Gly900=) c.2017G= (p.Gly673=) n.2773G= c.2947G= (p.Gly983=) c.2842G= (p.Gly948=) n.3448G= | |
7 | g.87417317C>G | CA368061025 | ABCB4 | c.2677G>C (p.Gly893Arg) c.2572G>C (p.Gly858Arg) c.2698G>C (p.Gly900Arg) c.2017G>C (p.Gly673Arg) n.2773G>C c.2947G>C (p.Gly983Arg) c.2842G>C (p.Gly948Arg) n.3448G>C | |
7 | g.87417317C>T | CA368061027 | ABCB4 | c.2677G>A (p.Gly893Arg) c.2572G>A (p.Gly858Arg) c.2698G>A (p.Gly900Arg) c.2017G>A (p.Gly673Arg) n.2773G>A c.2947G>A (p.Gly983Arg) c.2842G>A (p.Gly948Arg) n.3448G>A | dbSNP gnomAD v4 |
7 | g.87417318A>C | CA456358251 | ABCB4 | c.2676T>G (p.Ala892=) c.2571T>G (p.Ala857=) c.2697T>G (p.Ala899=) c.2016T>G (p.Ala672=) n.2772T>G c.2946T>G (p.Ala982=) c.2841T>G (p.Ala947=) n.3447T>G | |
7 | g.87417318A>G | CA456358254 | ABCB4 | c.2676T>C (p.Ala892=) c.2571T>C (p.Ala857=) c.2697T>C (p.Ala899=) c.2016T>C (p.Ala672=) n.2772T>C c.2946T>C (p.Ala982=) c.2841T>C (p.Ala947=) n.3447T>C | |
7 | g.87417318A>T | CA456358255 | ABCB4 | c.2676T>A (p.Ala892=) c.2571T>A (p.Ala857=) c.2697T>A (p.Ala899=) c.2016T>A (p.Ala672=) n.2772T>A c.2946T>A (p.Ala982=) c.2841T>A (p.Ala947=) n.3447T>A | |
7 | g.87417319G>A | CA368061031 | ABCB4 | c.2675C>T (p.Ala892Val) c.2570C>T (p.Ala857Val) c.2696C>T (p.Ala899Val) c.2015C>T (p.Ala672Val) n.2771C>T c.2945C>T (p.Ala982Val) c.2840C>T (p.Ala947Val) n.3446C>T | |
7 | g.87417319G>C | CA368061032 | ABCB4 | c.2675C>G (p.Ala892Gly) c.2570C>G (p.Ala857Gly) c.2696C>G (p.Ala899Gly) c.2015C>G (p.Ala672Gly) n.2771C>G c.2945C>G (p.Ala982Gly) c.2840C>G (p.Ala947Gly) n.3446C>G | |
7 | g.87417319G>T | CA368061029 | ABCB4 | c.2675C>A (p.Ala892Asp) c.2570C>A (p.Ala857Asp) c.2696C>A (p.Ala899Asp) c.2015C>A (p.Ala672Asp) n.2771C>A c.2945C>A (p.Ala982Asp) c.2840C>A (p.Ala947Asp) n.3446C>A | |
7 | g.87417320C>A | CA368061034 | ABCB4 | c.2674G>T (p.Ala892Ser) c.2569G>T (p.Ala857Ser) c.2695G>T (p.Ala899Ser) c.2014G>T (p.Ala672Ser) n.2770G>T c.2944G>T (p.Ala982Ser) c.2839G>T (p.Ala947Ser) n.3445G>T | |
7 | g.87417320C= | CA1723579339 | ABCB4 | c.2674G= (p.Ala892=) c.2569G= (p.Ala857=) c.2695G= (p.Ala899=) c.2014G= (p.Ala672=) n.2770G= c.2944G= (p.Ala982=) c.2839G= (p.Ala947=) n.3445G= | |
7 | g.87417320C>G | CA368061036 | ABCB4 | c.2674G>C (p.Ala892Pro) c.2569G>C (p.Ala857Pro) c.2695G>C (p.Ala899Pro) c.2014G>C (p.Ala672Pro) n.2770G>C c.2944G>C (p.Ala982Pro) c.2839G>C (p.Ala947Pro) n.3445G>C | |
7 | g.87417320C>T | CA368061037 | ABCB4 | c.2674G>A (p.Ala892Thr) c.2569G>A (p.Ala857Thr) c.2695G>A (p.Ala899Thr) c.2014G>A (p.Ala672Thr) n.2770G>A c.2944G>A (p.Ala982Thr) c.2839G>A (p.Ala947Thr) n.3445G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.87417321A>C | CA456358256 | ABCB4 | c.2673T>G (p.Ala891=) c.2568T>G (p.Ala856=) c.2694T>G (p.Ala898=) c.2013T>G (p.Ala671=) n.2769T>G c.2943T>G (p.Ala981=) c.2838T>G (p.Ala946=) n.3444T>G | |
7 | g.87417321A>G | CA456358257 | ABCB4 | c.2673T>C (p.Ala891=) c.2568T>C (p.Ala856=) c.2694T>C (p.Ala898=) c.2013T>C (p.Ala671=) n.2769T>C c.2943T>C (p.Ala981=) c.2838T>C (p.Ala946=) n.3444T>C | |
7 | g.87417321A>T | CA456358259 | ABCB4 | c.2673T>A (p.Ala891=) c.2568T>A (p.Ala856=) c.2694T>A (p.Ala898=) c.2013T>A (p.Ala671=) n.2769T>A c.2943T>A (p.Ala981=) c.2838T>A (p.Ala946=) n.3444T>A | |
7 | g.87417322G>A | CA368061039 | ABCB4 | c.2672C>T (p.Ala891Val) c.2567C>T (p.Ala856Val) c.2693C>T (p.Ala898Val) c.2012C>T (p.Ala671Val) n.2768C>T c.2942C>T (p.Ala981Val) c.2837C>T (p.Ala946Val) n.3443C>T | |
7 | g.87417322G>C | CA368061041 | ABCB4 | c.2672C>G (p.Ala891Gly) c.2567C>G (p.Ala856Gly) c.2693C>G (p.Ala898Gly) c.2012C>G (p.Ala671Gly) n.2768C>G c.2942C>G (p.Ala981Gly) c.2837C>G (p.Ala946Gly) n.3443C>G | |
7 | g.87417322G>T | CA368061042 | ABCB4 | c.2672C>A (p.Ala891Asp) c.2567C>A (p.Ala856Asp) c.2693C>A (p.Ala898Asp) c.2012C>A (p.Ala671Asp) n.2768C>A c.2942C>A (p.Ala981Asp) c.2837C>A (p.Ala946Asp) n.3443C>A | |
7 | g.87417323C>A | CA368061047 | ABCB4 | c.2671G>T (p.Ala891Ser) c.2566G>T (p.Ala856Ser) c.2692G>T (p.Ala898Ser) c.2011G>T (p.Ala671Ser) n.2767G>T c.2941G>T (p.Ala981Ser) c.2836G>T (p.Ala946Ser) n.3442G>T | |
7 | g.87417323C= | CA1723579341 | ABCB4 | c.2671G= (p.Ala891=) c.2566G= (p.Ala856=) c.2692G= (p.Ala898=) c.2011G= (p.Ala671=) n.2767G= c.2941G= (p.Ala981=) c.2836G= (p.Ala946=) n.3442G= | |
7 | g.87417323C>G | CA368061044 | ABCB4 | c.2671G>C (p.Ala891Pro) c.2566G>C (p.Ala856Pro) c.2692G>C (p.Ala898Pro) c.2011G>C (p.Ala671Pro) n.2767G>C c.2941G>C (p.Ala981Pro) c.2836G>C (p.Ala946Pro) n.3442G>C | |
7 | g.87417323C>T | CA368061045 | ABCB4 | c.2671G>A (p.Ala891Thr) c.2566G>A (p.Ala856Thr) c.2692G>A (p.Ala898Thr) c.2011G>A (p.Ala671Thr) n.2767G>A c.2941G>A (p.Ala981Thr) c.2836G>A (p.Ala946Thr) n.3442G>A | dbSNP |
7 | g.87417324T>A | CA368061049 | ABCB4 | c.2670A>T (p.Glu890Asp) c.2565A>T (p.Glu855Asp) c.2691A>T (p.Glu897Asp) c.2010A>T (p.Glu670Asp) n.2766A>T c.2940A>T (p.Glu980Asp) c.2835A>T (p.Glu945Asp) n.3441A>T | |
7 | g.87417324T>C | CA456358263 | ABCB4 | c.2670A>G (p.Glu890=) c.2565A>G (p.Glu855=) c.2691A>G (p.Glu897=) c.2010A>G (p.Glu670=) n.2766A>G c.2940A>G (p.Glu980=) c.2835A>G (p.Glu945=) n.3441A>G | gnomAD v4 |
7 | g.87417324T>G | CA368061050 | ABCB4 | c.2670A>C (p.Glu890Asp) c.2565A>C (p.Glu855Asp) c.2691A>C (p.Glu897Asp) c.2010A>C (p.Glu670Asp) n.2766A>C c.2940A>C (p.Glu980Asp) c.2835A>C (p.Glu945Asp) n.3441A>C | COSMIC COSMIC |
7 | g.87417325T>A | CA368061052 | ABCB4 | c.2669A>T (p.Glu890Val) c.2564A>T (p.Glu855Val) c.2690A>T (p.Glu897Val) c.2009A>T (p.Glu670Val) n.2765A>T c.2939A>T (p.Glu980Val) c.2834A>T (p.Glu945Val) n.3440A>T | |
7 | g.87417325T>C | CA368061053 | ABCB4 | c.2669A>G (p.Glu890Gly) c.2564A>G (p.Glu855Gly) c.2690A>G (p.Glu897Gly) c.2009A>G (p.Glu670Gly) n.2765A>G c.2939A>G (p.Glu980Gly) c.2834A>G (p.Glu945Gly) n.3440A>G | |
7 | g.87417325T>G | CA368061055 | ABCB4 | c.2669A>C (p.Glu890Ala) c.2564A>C (p.Glu855Ala) c.2690A>C (p.Glu897Ala) c.2009A>C (p.Glu670Ala) n.2765A>C c.2939A>C (p.Glu980Ala) c.2834A>C (p.Glu945Ala) n.3440A>C | gnomAD v4 |
7 | g.87417326C>A | CA368061056 | ABCB4 | c.2668G>T (p.Glu890Ter) c.2563G>T (p.Glu855Ter) c.2689G>T (p.Glu897Ter) c.2008G>T (p.Glu670Ter) n.2764G>T c.2938G>T (p.Glu980Ter) c.2833G>T (p.Glu945Ter) n.3439G>T | |
7 | g.87417326C>G | CA368061058 | ABCB4 | c.2668G>C (p.Glu890Gln) c.2563G>C (p.Glu855Gln) c.2689G>C (p.Glu897Gln) c.2008G>C (p.Glu670Gln) n.2764G>C c.2938G>C (p.Glu980Gln) c.2833G>C (p.Glu945Gln) n.3439G>C | |
7 | g.87417326C>T | CA368061057 | ABCB4 | c.2668G>A (p.Glu890Lys) c.2563G>A (p.Glu855Lys) c.2689G>A (p.Glu897Lys) c.2008G>A (p.Glu670Lys) n.2764G>A c.2938G>A (p.Glu980Lys) c.2833G>A (p.Glu945Lys) n.3439G>A | |
7 | g.87417327C>A | CA456358266 | ABCB4 | c.2667G>T (p.Leu889=) c.2562G>T (p.Leu854=) c.2688G>T (p.Leu896=) c.2007G>T (p.Leu669=) n.2763G>T c.2937G>T (p.Leu979=) c.2832G>T (p.Leu944=) n.3438G>T | |
7 | g.87417327C>G | CA456358267 | ABCB4 | c.2667G>C (p.Leu889=) c.2562G>C (p.Leu854=) c.2688G>C (p.Leu896=) c.2007G>C (p.Leu669=) n.2763G>C c.2937G>C (p.Leu979=) c.2832G>C (p.Leu944=) n.3438G>C | |
7 | g.87417327C>T | CA456358268 | ABCB4 | c.2667G>A (p.Leu889=) c.2562G>A (p.Leu854=) c.2688G>A (p.Leu896=) c.2007G>A (p.Leu669=) n.2763G>A c.2937G>A (p.Leu979=) c.2832G>A (p.Leu944=) n.3438G>A | |
7 | g.87417328A>C | CA368061059 | ABCB4 | c.2666T>G (p.Leu889Arg) c.2561T>G (p.Leu854Arg) c.2687T>G (p.Leu896Arg) c.2006T>G (p.Leu669Arg) n.2762T>G c.2936T>G (p.Leu979Arg) c.2831T>G (p.Leu944Arg) n.3437T>G | |
7 | g.87417328A>G | CA368061061 | ABCB4 | c.2666T>C (p.Leu889Pro) c.2561T>C (p.Leu854Pro) c.2687T>C (p.Leu896Pro) c.2006T>C (p.Leu669Pro) n.2762T>C c.2936T>C (p.Leu979Pro) c.2831T>C (p.Leu944Pro) n.3437T>C | gnomAD v4 |
7 | g.87417328A>T | CA368061062 | ABCB4 | c.2666T>A (p.Leu889Gln) c.2561T>A (p.Leu854Gln) c.2687T>A (p.Leu896Gln) c.2006T>A (p.Leu669Gln) n.2762T>A c.2936T>A (p.Leu979Gln) c.2831T>A (p.Leu944Gln) n.3437T>A | |
7 | g.87417329G>A | CA456358269 | ABCB4 | c.2665C>T (p.Leu889=) c.2560C>T (p.Leu854=) c.2686C>T (p.Leu896=) c.2005C>T (p.Leu669=) n.2761C>T c.2935C>T (p.Leu979=) c.2830C>T (p.Leu944=) n.3436C>T | |
7 | g.87417329G>C | CA368061064 | ABCB4 | c.2665C>G (p.Leu889Val) c.2560C>G (p.Leu854Val) c.2686C>G (p.Leu896Val) c.2005C>G (p.Leu669Val) n.2761C>G c.2935C>G (p.Leu979Val) c.2830C>G (p.Leu944Val) n.3436C>G | |
7 | g.87417329G>T | CA368061065 | ABCB4 | c.2665C>A (p.Leu889Met) c.2560C>A (p.Leu854Met) c.2686C>A (p.Leu896Met) c.2005C>A (p.Leu669Met) n.2761C>A c.2935C>A (p.Leu979Met) c.2830C>A (p.Leu944Met) n.3436C>A | |
7 | g.87417330T>A | CA368061066 | ABCB4 | c.2664A>T (p.Glu888Asp) c.2559A>T (p.Glu853Asp) c.2685A>T (p.Glu895Asp) c.2004A>T (p.Glu668Asp) n.2760A>T c.2934A>T (p.Glu978Asp) c.2829A>T (p.Glu943Asp) n.3435A>T | |
7 | g.87417330T>C | CA456358272 | ABCB4 | c.2664A>G (p.Glu888=) c.2559A>G (p.Glu853=) c.2685A>G (p.Glu895=) c.2004A>G (p.Glu668=) n.2760A>G c.2934A>G (p.Glu978=) c.2829A>G (p.Glu943=) n.3435A>G | |
7 | g.87417330T>G | CA368061067 | ABCB4 | c.2664A>C (p.Glu888Asp) c.2559A>C (p.Glu853Asp) c.2685A>C (p.Glu895Asp) c.2004A>C (p.Glu668Asp) n.2760A>C c.2934A>C (p.Glu978Asp) c.2829A>C (p.Glu943Asp) n.3435A>C | |
7 | g.87417331T>A | CA368061069 | ABCB4 | c.2663A>T (p.Glu888Val) c.2558A>T (p.Glu853Val) c.2684A>T (p.Glu895Val) c.2003A>T (p.Glu668Val) n.2759A>T c.2933A>T (p.Glu978Val) c.2828A>T (p.Glu943Val) n.3434A>T | |
7 | g.87417331T>C | CA368061070 | ABCB4 | c.2663A>G (p.Glu888Gly) c.2558A>G (p.Glu853Gly) c.2684A>G (p.Glu895Gly) c.2003A>G (p.Glu668Gly) n.2759A>G c.2933A>G (p.Glu978Gly) c.2828A>G (p.Glu943Gly) n.3434A>G | |
7 | g.87417331T>G | CA368061071 | ABCB4 | c.2663A>C (p.Glu888Ala) c.2558A>C (p.Glu853Ala) c.2684A>C (p.Glu895Ala) c.2003A>C (p.Glu668Ala) n.2759A>C c.2933A>C (p.Glu978Ala) c.2828A>C (p.Glu943Ala) n.3434A>C | |
7 | g.87417332C>A | CA368061072 | ABCB4 | c.2662G>T (p.Glu888Ter) c.2557G>T (p.Glu853Ter) c.2683G>T (p.Glu895Ter) c.2002G>T (p.Glu668Ter) n.2758G>T c.2932G>T (p.Glu978Ter) c.2827G>T (p.Glu943Ter) n.3433G>T | COSMIC COSMIC |
7 | g.87417332C>G | CA368061076 | ABCB4 | c.2662G>C (p.Glu888Gln) c.2557G>C (p.Glu853Gln) c.2683G>C (p.Glu895Gln) c.2002G>C (p.Glu668Gln) n.2758G>C c.2932G>C (p.Glu978Gln) c.2827G>C (p.Glu943Gln) n.3433G>C | |
7 | g.87417332C>T | CA368061074 | ABCB4 | c.2662G>A (p.Glu888Lys) c.2557G>A (p.Glu853Lys) c.2683G>A (p.Glu895Lys) c.2002G>A (p.Glu668Lys) n.2758G>A c.2932G>A (p.Glu978Lys) c.2827G>A (p.Glu943Lys) n.3433G>A | |
7 | g.87417332_87417333delinsCT | CA1723579345 | ABCB4 | c.2661_2662delinsAG (p.Lys887=) c.2556_2557delinsAG (p.Lys852=) c.2682_2683delinsAG (p.Lys894=) c.2001_2002delinsAG (p.Lys667=) n.2757_2758delinsAG c.2931_2932delinsAG (p.Lys977=) c.2826_2827delinsAG (p.Lys942=) n.3432_3433delinsAG | |
7 | g.87417333T>A | CA368061077 | ABCB4 | c.2661A>T (p.Lys887Asn) c.2556A>T (p.Lys852Asn) c.2682A>T (p.Lys894Asn) c.2001A>T (p.Lys667Asn) n.2757A>T c.2931A>T (p.Lys977Asn) c.2826A>T (p.Lys942Asn) n.3432A>T | |
7 | g.87417333T>C | CA456358279 | ABCB4 | c.2661A>G (p.Lys887=) c.2556A>G (p.Lys852=) c.2682A>G (p.Lys894=) c.2001A>G (p.Lys667=) n.2757A>G c.2931A>G (p.Lys977=) c.2826A>G (p.Lys942=) n.3432A>G | gnomAD v4 |
7 | g.87417333T>G | CA368061079 | ABCB4 | c.2661A>C (p.Lys887Asn) c.2556A>C (p.Lys852Asn) c.2682A>C (p.Lys894Asn) c.2001A>C (p.Lys667Asn) n.2757A>C c.2931A>C (p.Lys977Asn) c.2826A>C (p.Lys942Asn) n.3432A>C | |
7 | g.87417338del | CA576267483 | ABCB4 | c.2661del (p.Glu888AsnfsTer13) c.2556del (p.Glu853AsnfsTer13) c.2682del (p.Glu895AsnfsTer13) c.2001del (p.Glu668AsnfsTer13) n.2757del c.2931del (p.Glu978AsnfsTer13) c.2826del (p.Glu943AsnfsTer13) n.3432del | dbSNP gnomAD v2 gnomAD v4 |
7 | g.87417334T>A | CA368061081 | ABCB4 | c.2660A>T (p.Lys887Ile) c.2555A>T (p.Lys852Ile) c.2681A>T (p.Lys894Ile) c.2000A>T (p.Lys667Ile) n.2756A>T c.2930A>T (p.Lys977Ile) c.2825A>T (p.Lys942Ile) n.3431A>T | |
7 | g.87417334T>C | CA368061084 | ABCB4 | c.2660A>G (p.Lys887Arg) c.2555A>G (p.Lys852Arg) c.2681A>G (p.Lys894Arg) c.2000A>G (p.Lys667Arg) n.2756A>G c.2930A>G (p.Lys977Arg) c.2825A>G (p.Lys942Arg) n.3431A>G | |
7 | g.87417334T>G | CA368061082 | ABCB4 | c.2660A>C (p.Lys887Thr) c.2555A>C (p.Lys852Thr) c.2681A>C (p.Lys894Thr) c.2000A>C (p.Lys667Thr) n.2756A>C c.2930A>C (p.Lys977Thr) c.2825A>C (p.Lys942Thr) n.3431A>C | |
7 | g.87417335T>A | CA368061085 | ABCB4 | c.2659A>T (p.Lys887Ter) c.2554A>T (p.Lys852Ter) c.2680A>T (p.Lys894Ter) c.1999A>T (p.Lys667Ter) n.2755A>T c.2929A>T (p.Lys977Ter) c.2824A>T (p.Lys942Ter) n.3430A>T | |
7 | g.87417335T>C | CA4326973 | ABCB4 | c.2659A>G (p.Lys887Glu) c.2554A>G (p.Lys852Glu) c.2680A>G (p.Lys894Glu) c.1999A>G (p.Lys667Glu) n.2755A>G c.2929A>G (p.Lys977Glu) c.2824A>G (p.Lys942Glu) n.3430A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.87417335T>G | CA368061088 | ABCB4 | c.2659A>C (p.Lys887Gln) c.2554A>C (p.Lys852Gln) c.2680A>C (p.Lys894Gln) c.1999A>C (p.Lys667Gln) n.2755A>C c.2929A>C (p.Lys977Gln) c.2824A>C (p.Lys942Gln) n.3430A>C | |
7 | g.87417335T= | CA1723579352 | ABCB4 | c.2659A= (p.Lys887=) c.2554A= (p.Lys852=) c.2680A= (p.Lys894=) c.1999A= (p.Lys667=) n.2755A= c.2929A= (p.Lys977=) c.2824A= (p.Lys942=) n.3430A= | |
7 | g.87417336T>A | CA368061090 | ABCB4 | c.2658A>T (p.Lys886Asn) c.2553A>T (p.Lys851Asn) c.2679A>T (p.Lys893Asn) c.1998A>T (p.Lys666Asn) n.2754A>T c.2928A>T (p.Lys976Asn) c.2823A>T (p.Lys941Asn) n.3429A>T | |
7 | g.87417336T>C | CA456358285 | ABCB4 | c.2658A>G (p.Lys886=) c.2553A>G (p.Lys851=) c.2679A>G (p.Lys893=) c.1998A>G (p.Lys666=) n.2754A>G c.2928A>G (p.Lys976=) c.2823A>G (p.Lys941=) n.3429A>G | COSMIC |
7 | g.87417336T>G | CA368061091 | ABCB4 | c.2658A>C (p.Lys886Asn) c.2553A>C (p.Lys851Asn) c.2679A>C (p.Lys893Asn) c.1998A>C (p.Lys666Asn) n.2754A>C c.2928A>C (p.Lys976Asn) c.2823A>C (p.Lys941Asn) n.3429A>C | |
7 | g.87417337T>A | CA368061093 | ABCB4 | c.2657A>T (p.Lys886Ile) c.2552A>T (p.Lys851Ile) c.2678A>T (p.Lys893Ile) c.1997A>T (p.Lys666Ile) n.2753A>T c.2927A>T (p.Lys976Ile) c.2822A>T (p.Lys941Ile) n.3428A>T | |
7 | g.87417337T>C | CA368061095 | ABCB4 | c.2657A>G (p.Lys886Arg) c.2552A>G (p.Lys851Arg) c.2678A>G (p.Lys893Arg) c.1997A>G (p.Lys666Arg) n.2753A>G c.2927A>G (p.Lys976Arg) c.2822A>G (p.Lys941Arg) n.3428A>G | |
7 | g.87417337T>G | CA368061097 | ABCB4 | c.2657A>C (p.Lys886Thr) c.2552A>C (p.Lys851Thr) c.2678A>C (p.Lys893Thr) c.1997A>C (p.Lys666Thr) n.2753A>C c.2927A>C (p.Lys976Thr) c.2822A>C (p.Lys941Thr) n.3428A>C | |
7 | g.87417338T>A | CA368061099 | ABCB4 | c.2656A>T (p.Lys886Ter) c.2551A>T (p.Lys851Ter) c.2677A>T (p.Lys893Ter) c.1996A>T (p.Lys666Ter) n.2752A>T c.2926A>T (p.Lys976Ter) c.2821A>T (p.Lys941Ter) n.3427A>T | |
7 | g.87417338T>C | CA368061100 | ABCB4 | c.2656A>G (p.Lys886Glu) c.2551A>G (p.Lys851Glu) c.2677A>G (p.Lys893Glu) c.1996A>G (p.Lys666Glu) n.2752A>G c.2926A>G (p.Lys976Glu) c.2821A>G (p.Lys941Glu) n.3427A>G | dbSNP |
7 | g.87417338T>G | CA368061102 | ABCB4 | c.2656A>C (p.Lys886Gln) c.2551A>C (p.Lys851Gln) c.2677A>C (p.Lys893Gln) c.1996A>C (p.Lys666Gln) n.2752A>C c.2926A>C (p.Lys976Gln) c.2821A>C (p.Lys941Gln) n.3427A>C | |
7 | g.87417338T= | CA1723579359 | ABCB4 | c.2656A= (p.Lys886=) c.2551A= (p.Lys851=) c.2677A= (p.Lys893=) c.1996A= (p.Lys666=) n.2752A= c.2926A= (p.Lys976=) c.2821A= (p.Lys941=) n.3427A= | |
7 | g.87417339A>C | CA368061105 | ABCB4 | c.2655T>G (p.Asp885Glu) c.2550T>G (p.Asp850Glu) c.2676T>G (p.Asp892Glu) c.1995T>G (p.Asp665Glu) n.2751T>G c.2925T>G (p.Asp975Glu) c.2820T>G (p.Asp940Glu) n.3426T>G | |
7 | g.87417339A>G | CA456358289 | ABCB4 | c.2655T>C (p.Asp885=) c.2550T>C (p.Asp850=) c.2676T>C (p.Asp892=) c.1995T>C (p.Asp665=) n.2751T>C c.2925T>C (p.Asp975=) c.2820T>C (p.Asp940=) n.3426T>C | |
7 | g.87417339A>T | CA368061104 | ABCB4 | c.2655T>A (p.Asp885Glu) c.2550T>A (p.Asp850Glu) c.2676T>A (p.Asp892Glu) c.1995T>A (p.Asp665Glu) n.2751T>A c.2925T>A (p.Asp975Glu) c.2820T>A (p.Asp940Glu) n.3426T>A | |
7 | g.87417340T>A | CA162106116 | ABCB4 | c.2654A>T (p.Asp885Val) c.2549A>T (p.Asp850Val) c.2675A>T (p.Asp892Val) c.1994A>T (p.Asp665Val) n.2750A>T c.2924A>T (p.Asp975Val) c.2819A>T (p.Asp940Val) n.3425A>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.87417340T>C | CA368061108 | ABCB4 | c.2654A>G (p.Asp885Gly) c.2549A>G (p.Asp850Gly) c.2675A>G (p.Asp892Gly) c.1994A>G (p.Asp665Gly) n.2750A>G c.2924A>G (p.Asp975Gly) c.2819A>G (p.Asp940Gly) n.3425A>G | gnomAD v4 |
7 | g.87417340T>G | CA368061109 | ABCB4 | c.2654A>C (p.Asp885Ala) c.2549A>C (p.Asp850Ala) c.2675A>C (p.Asp892Ala) c.1994A>C (p.Asp665Ala) n.2750A>C c.2924A>C (p.Asp975Ala) c.2819A>C (p.Asp940Ala) n.3425A>C | |
7 | g.87417340T= | CA1723579364 | ABCB4 | c.2654A= (p.Asp885=) c.2549A= (p.Asp850=) c.2675A= (p.Asp892=) c.1994A= (p.Asp665=) n.2750A= c.2924A= (p.Asp975=) c.2819A= (p.Asp940=) n.3425A= | |
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.87417341C>A | CA368061110 | ABCB4 | c.2653G>T (p.Asp885Tyr) c.2548G>T (p.Asp850Tyr) c.2674G>T (p.Asp892Tyr) c.1993G>T (p.Asp665Tyr) n.2749G>T c.2923G>T (p.Asp975Tyr) c.2818G>T (p.Asp940Tyr) n.3424G>T | |
7 | g.87417341C>G | CA368061111 | ABCB4 | c.2653G>C (p.Asp885His) c.2548G>C (p.Asp850His) c.2674G>C (p.Asp892His) c.1993G>C (p.Asp665His) n.2749G>C c.2923G>C (p.Asp975His) c.2818G>C (p.Asp940His) n.3424G>C | |
7 | g.87417341C>T | CA368061113 | ABCB4 | c.2653G>A (p.Asp885Asn) c.2548G>A (p.Asp850Asn) c.2674G>A (p.Asp892Asn) c.1993G>A (p.Asp665Asn) n.2749G>A c.2923G>A (p.Asp975Asn) c.2818G>A (p.Asp940Asn) n.3424G>A | gnomAD v4 |
7 | g.87417342T>A | CA368061114 | ABCB4 | c.2652A>T (p.Arg884Ser) c.2547A>T (p.Arg849Ser) c.2673A>T (p.Arg891Ser) c.1992A>T (p.Arg664Ser) n.2748A>T c.2922A>T (p.Arg974Ser) c.2817A>T (p.Arg939Ser) n.3423A>T | |
7 | g.87417342T>C | CA456358294 | ABCB4 | c.2652A>G (p.Arg884=) c.2547A>G (p.Arg849=) c.2673A>G (p.Arg891=) c.1992A>G (p.Arg664=) n.2748A>G c.2922A>G (p.Arg974=) c.2817A>G (p.Arg939=) n.3423A>G | |
7 | g.87417342T>G | CA368061115 | ABCB4 | c.2652A>C (p.Arg884Ser) c.2547A>C (p.Arg849Ser) c.2673A>C (p.Arg891Ser) c.1992A>C (p.Arg664Ser) n.2748A>C c.2922A>C (p.Arg974Ser) c.2817A>C (p.Arg939Ser) n.3423A>C | |
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 |