| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.78039050A>C | CA360331848 | AP3B1 | c.2655T>G (p.Asn885Lys) n.602T>G c.2695T>G (n.2695T>G) c.2001T>G (p.Asn667Lys) c.*2564T>G (n.*2564T>G) c.2745T>G (p.Asn915Lys) c.2796T>G (p.Asn932Lys) n.517T>G c.2802T>G (p.Asn934Lys) n.2960T>G n.454T>G c.*327T>G (n.*327T>G) c.2622T>G (p.Asn874Lys) c.2667T>G (p.Asn889Lys) c.101T>G | |
| 5 | g.78039050A>G | CA445400099 | AP3B1 | c.2655T>C (p.Asn885=) n.602T>C c.2695T>C (n.2695T>C) c.2001T>C (p.Asn667=) c.*2564T>C (n.*2564T>C) c.2745T>C (p.Asn915=) c.2796T>C (p.Asn932=) n.517T>C c.2802T>C (p.Asn934=) n.2960T>C n.454T>C c.*327T>C (n.*327T>C) c.2622T>C (p.Asn874=) c.2667T>C (p.Asn889=) c.101T>C | |
| 5 | g.78039050A>T | CA360331849 | AP3B1 | c.2655T>A (p.Asn885Lys) n.602T>A c.2695T>A (n.2695T>A) c.2001T>A (p.Asn667Lys) c.*2564T>A (n.*2564T>A) c.2745T>A (p.Asn915Lys) c.2796T>A (p.Asn932Lys) n.517T>A c.2802T>A (p.Asn934Lys) n.2960T>A n.454T>A c.*327T>A (n.*327T>A) c.2622T>A (p.Asn874Lys) c.2667T>A (p.Asn889Lys) c.101T>A | |
| 5 | g.78039051T>A | CA360331850 | AP3B1 | c.2654A>T (p.Asn885Ile) n.601A>T c.2694A>T (n.2694A>T) c.2000A>T (p.Asn667Ile) c.*2563A>T (n.*2563A>T) c.2744A>T (p.Asn915Ile) c.2795A>T (p.Asn932Ile) n.516A>T c.2801A>T (p.Asn934Ile) n.2959A>T n.453A>T c.*326A>T (n.*326A>T) c.2621A>T (p.Asn874Ile) c.2666A>T (p.Asn889Ile) c.100A>T | |
| 5 | g.78039051T>C | CA360331851 | AP3B1 | c.2654A>G (p.Asn885Ser) n.601A>G c.2694A>G (n.2694A>G) c.2000A>G (p.Asn667Ser) c.*2563A>G (n.*2563A>G) c.2744A>G (p.Asn915Ser) c.2795A>G (p.Asn932Ser) n.516A>G c.2801A>G (p.Asn934Ser) n.2959A>G n.453A>G c.*326A>G (n.*326A>G) c.2621A>G (p.Asn874Ser) c.2666A>G (p.Asn889Ser) c.100A>G | |
| 5 | g.78039051T>G | CA360331852 | AP3B1 | c.2654A>C (p.Asn885Thr) n.601A>C c.2694A>C (n.2694A>C) c.2000A>C (p.Asn667Thr) c.*2563A>C (n.*2563A>C) c.2744A>C (p.Asn915Thr) c.2795A>C (p.Asn932Thr) n.516A>C c.2801A>C (p.Asn934Thr) n.2959A>C n.453A>C c.*326A>C (n.*326A>C) c.2621A>C (p.Asn874Thr) c.2666A>C (p.Asn889Thr) c.100A>C | |
| 5 | g.78039052del | CA2573139960 | AP3B1 | c.2654del (p.Asn885IlefsTer3) n.601del c.2694del (n.2694del) c.2000del (p.Asn667IlefsTer3) c.*2563del (n.*2563del) c.2744del (p.Asn915IlefsTer3) c.2795del (p.Asn932IlefsTer3) n.516del c.2801del (p.Asn934IlefsTer3) n.2959del n.453del c.*326del (n.*326del) c.2621del (p.Asn874IlefsTer3) c.2666del (p.Asn889IlefsTer3) c.100del | ClinVar dbSNP |
| 5 | g.78039052T>A | CA360331853 | AP3B1 | c.2653A>T (p.Asn885Tyr) n.600A>T c.2693A>T (n.2693A>T) c.1999A>T (p.Asn667Tyr) c.*2562A>T (n.*2562A>T) c.2743A>T (p.Asn915Tyr) c.2794A>T (p.Asn932Tyr) n.515A>T c.2800A>T (p.Asn934Tyr) n.2958A>T n.452A>T c.*325A>T (n.*325A>T) c.2620A>T (p.Asn874Tyr) c.2665A>T (p.Asn889Tyr) c.99A>T | |
| 5 | g.78039052T>C | CA360331854 | AP3B1 | c.2653A>G (p.Asn885Asp) n.600A>G c.2693A>G (n.2693A>G) c.1999A>G (p.Asn667Asp) c.*2562A>G (n.*2562A>G) c.2743A>G (p.Asn915Asp) c.2794A>G (p.Asn932Asp) n.515A>G c.2800A>G (p.Asn934Asp) n.2958A>G n.452A>G c.*325A>G (n.*325A>G) c.2620A>G (p.Asn874Asp) c.2665A>G (p.Asn889Asp) c.99A>G | |
| 5 | g.78039052T>G | CA360331855 | AP3B1 | c.2653A>C (p.Asn885His) n.600A>C c.2693A>C (n.2693A>C) c.1999A>C (p.Asn667His) c.*2562A>C (n.*2562A>C) c.2743A>C (p.Asn915His) c.2794A>C (p.Asn932His) n.515A>C c.2800A>C (p.Asn934His) n.2958A>C n.452A>C c.*325A>C (n.*325A>C) c.2620A>C (p.Asn874His) c.2665A>C (p.Asn889His) c.99A>C | |
| 5 | g.78039053A= | CA1557269086 | AP3B1 | c.2652T= (p.Phe884=) n.599T= c.2692T= (n.2692T=) c.1998T= (p.Phe666=) c.*2561T= (n.*2561T=) c.2742T= (p.Phe914=) c.2793T= (p.Phe931=) n.514T= c.2799T= (p.Phe933=) n.2957T= n.451T= c.*324T= (n.*324T=) c.2619T= (p.Phe873=) c.2664T= (p.Phe888=) c.98T= | |
| 5 | g.78039053A>C | CA360331856 | AP3B1 | c.2652T>G (p.Phe884Leu) n.599T>G c.2692T>G (n.2692T>G) c.1998T>G (p.Phe666Leu) c.*2561T>G (n.*2561T>G) c.2742T>G (p.Phe914Leu) c.2793T>G (p.Phe931Leu) n.514T>G c.2799T>G (p.Phe933Leu) n.2957T>G n.451T>G c.*324T>G (n.*324T>G) c.2619T>G (p.Phe873Leu) c.2664T>G (p.Phe888Leu) c.98T>G | |
| 5 | g.78039053A>G | CA445400105 | AP3B1 | c.2652T>C (p.Phe884=) n.599T>C c.2692T>C (n.2692T>C) c.1998T>C (p.Phe666=) c.*2561T>C (n.*2561T>C) c.2742T>C (p.Phe914=) c.2793T>C (p.Phe931=) n.514T>C c.2799T>C (p.Phe933=) n.2957T>C n.451T>C c.*324T>C (n.*324T>C) c.2619T>C (p.Phe873=) c.2664T>C (p.Phe888=) c.98T>C | |
| 5 | g.78039053A>T | CA360331857 | AP3B1 | c.2652T>A (p.Phe884Leu) n.599T>A c.2692T>A (n.2692T>A) c.1998T>A (p.Phe666Leu) c.*2561T>A (n.*2561T>A) c.2742T>A (p.Phe914Leu) c.2793T>A (p.Phe931Leu) n.514T>A c.2799T>A (p.Phe933Leu) n.2957T>A n.451T>A c.*324T>A (n.*324T>A) c.2619T>A (p.Phe873Leu) c.2664T>A (p.Phe888Leu) c.98T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78039057del | CA645541734 | AP3B1 | c.2652del (p.Phe884LeufsTer4) n.599del c.2692del (n.2692del) c.1998del (p.Phe666LeufsTer4) c.*2561del (n.*2561del) c.2742del (p.Phe914LeufsTer4) c.2793del (p.Phe931LeufsTer4) n.514del c.2799del (p.Phe933LeufsTer4) n.2957del n.451del c.*324del (n.*324del) c.2619del (p.Phe873LeufsTer4) c.2664del (p.Phe888LeufsTer4) c.98del | COSMIC |
| 5 | g.78039056_78039057del | CA2674351443 | AP3B1 | c.2651_2652del (p.Phe884Ter) n.598_599del c.2691_2692del (n.2691_2692del) c.1997_1998del (p.Phe666Ter) c.*2560_*2561del (n.*2560_*2561del) c.2741_2742del (p.Phe914Ter) c.2792_2793del (p.Phe931Ter) n.513_514del c.2798_2799del (p.Phe933Ter) n.2956_2957del n.450_451del c.*323_*324del (n.*323_*324del) c.2618_2619del (p.Phe873Ter) c.2663_2664del (p.Phe888Ter) c.97_98del | gnomAD v4 |
| 5 | g.78039054A>C | CA360331858 | AP3B1 | c.2651T>G (p.Phe884Cys) n.598T>G c.2691T>G (n.2691T>G) c.1997T>G (p.Phe666Cys) c.*2560T>G (n.*2560T>G) c.2741T>G (p.Phe914Cys) c.2792T>G (p.Phe931Cys) n.513T>G c.2798T>G (p.Phe933Cys) n.2956T>G n.450T>G c.*323T>G (n.*323T>G) c.2618T>G (p.Phe873Cys) c.2663T>G (p.Phe888Cys) c.97T>G | |
| 5 | g.78039054A>G | CA360331859 | AP3B1 | c.2651T>C (p.Phe884Ser) n.598T>C c.2691T>C (n.2691T>C) c.1997T>C (p.Phe666Ser) c.*2560T>C (n.*2560T>C) c.2741T>C (p.Phe914Ser) c.2792T>C (p.Phe931Ser) n.513T>C c.2798T>C (p.Phe933Ser) n.2956T>C n.450T>C c.*323T>C (n.*323T>C) c.2618T>C (p.Phe873Ser) c.2663T>C (p.Phe888Ser) c.97T>C | |
| 5 | g.78039054A>T | CA360331860 | AP3B1 | c.2651T>A (p.Phe884Tyr) n.598T>A c.2691T>A (n.2691T>A) c.1997T>A (p.Phe666Tyr) c.*2560T>A (n.*2560T>A) c.2741T>A (p.Phe914Tyr) c.2792T>A (p.Phe931Tyr) n.513T>A c.2798T>A (p.Phe933Tyr) n.2956T>A n.450T>A c.*323T>A (n.*323T>A) c.2618T>A (p.Phe873Tyr) c.2663T>A (p.Phe888Tyr) c.97T>A | |
| 5 | g.78039055A>C | CA360331863 | AP3B1 | c.2650T>G (p.Phe884Val) n.597T>G c.2690T>G (n.2690T>G) c.1996T>G (p.Phe666Val) c.*2559T>G (n.*2559T>G) c.2740T>G (p.Phe914Val) c.2791T>G (p.Phe931Val) n.512T>G c.2797T>G (p.Phe933Val) n.2955T>G n.449T>G c.*322T>G (n.*322T>G) c.2617T>G (p.Phe873Val) c.2662T>G (p.Phe888Val) c.96T>G | |
| 5 | g.78039055A>G | CA360331862 | AP3B1 | c.2650T>C (p.Phe884Leu) n.597T>C c.2690T>C (n.2690T>C) c.1996T>C (p.Phe666Leu) c.*2559T>C (n.*2559T>C) c.2740T>C (p.Phe914Leu) c.2791T>C (p.Phe931Leu) n.512T>C c.2797T>C (p.Phe933Leu) n.2955T>C n.449T>C c.*322T>C (n.*322T>C) c.2617T>C (p.Phe873Leu) c.2662T>C (p.Phe888Leu) c.96T>C | |
| 5 | g.78039055A>T | CA360331861 | AP3B1 | c.2650T>A (p.Phe884Ile) n.597T>A c.2690T>A (n.2690T>A) c.1996T>A (p.Phe666Ile) c.*2559T>A (n.*2559T>A) c.2740T>A (p.Phe914Ile) c.2791T>A (p.Phe931Ile) n.512T>A c.2797T>A (p.Phe933Ile) n.2955T>A n.449T>A c.*322T>A (n.*322T>A) c.2617T>A (p.Phe873Ile) c.2662T>A (p.Phe888Ile) c.96T>A | |
| 5 | g.78039056A= | CA1557269088 | AP3B1 | c.2649T= (p.Val883=) n.596T= c.2689T= (n.2689T=) c.1995T= (p.Val665=) c.*2558T= (n.*2558T=) c.2739T= (p.Val913=) c.2790T= (p.Val930=) n.511T= c.2796T= (p.Val932=) n.2954T= n.448T= c.*321T= (n.*321T=) c.2616T= (p.Val872=) c.2661T= (p.Val887=) c.95T= | |
| 5 | g.78039056A>C | CA445400111 | AP3B1 | c.2649T>G (p.Val883=) n.596T>G c.2689T>G (n.2689T>G) c.1995T>G (p.Val665=) c.*2558T>G (n.*2558T>G) c.2739T>G (p.Val913=) c.2790T>G (p.Val930=) n.511T>G c.2796T>G (p.Val932=) n.2954T>G n.448T>G c.*321T>G (n.*321T>G) c.2616T>G (p.Val872=) c.2661T>G (p.Val887=) c.95T>G | |
| 5 | g.78039056A>G | CA445400114 | AP3B1 | c.2649T>C (p.Val883=) n.596T>C c.2689T>C (n.2689T>C) c.1995T>C (p.Val665=) c.*2558T>C (n.*2558T>C) c.2739T>C (p.Val913=) c.2790T>C (p.Val930=) n.511T>C c.2796T>C (p.Val932=) n.2954T>C n.448T>C c.*321T>C (n.*321T>C) c.2616T>C (p.Val872=) c.2661T>C (p.Val887=) c.95T>C | dbSNP gnomAD v4 |
| 5 | g.78039056A>T | CA445400113 | AP3B1 | c.2649T>A (p.Val883=) n.596T>A c.2689T>A (n.2689T>A) c.1995T>A (p.Val665=) c.*2558T>A (n.*2558T>A) c.2739T>A (p.Val913=) c.2790T>A (p.Val930=) n.511T>A c.2796T>A (p.Val932=) n.2954T>A n.448T>A c.*321T>A (n.*321T>A) c.2616T>A (p.Val872=) c.2661T>A (p.Val887=) c.95T>A | |
| 5 | g.78039057A>C | CA360331864 | AP3B1 | c.2648T>G (p.Val883Gly) n.595T>G c.2688T>G (n.2688T>G) c.1994T>G (p.Val665Gly) c.*2557T>G (n.*2557T>G) c.2738T>G (p.Val913Gly) c.2789T>G (p.Val930Gly) n.510T>G c.2795T>G (p.Val932Gly) n.2953T>G n.447T>G c.*320T>G (n.*320T>G) c.2615T>G (p.Val872Gly) c.2660T>G (p.Val887Gly) c.94T>G | |
| 5 | g.78039057A>G | CA360331865 | AP3B1 | c.2648T>C (p.Val883Ala) n.595T>C c.2688T>C (n.2688T>C) c.1994T>C (p.Val665Ala) c.*2557T>C (n.*2557T>C) c.2738T>C (p.Val913Ala) c.2789T>C (p.Val930Ala) n.510T>C c.2795T>C (p.Val932Ala) n.2953T>C n.447T>C c.*320T>C (n.*320T>C) c.2615T>C (p.Val872Ala) c.2660T>C (p.Val887Ala) c.94T>C | |
| 5 | g.78039057A>T | CA360331866 | AP3B1 | c.2648T>A (p.Val883Asp) n.595T>A c.2688T>A (n.2688T>A) c.1994T>A (p.Val665Asp) c.*2557T>A (n.*2557T>A) c.2738T>A (p.Val913Asp) c.2789T>A (p.Val930Asp) n.510T>A c.2795T>A (p.Val932Asp) n.2953T>A n.447T>A c.*320T>A (n.*320T>A) c.2615T>A (p.Val872Asp) c.2660T>A (p.Val887Asp) c.94T>A | |
| 5 | g.78039058C>A | CA360331867 | AP3B1 | c.2647G>T (p.Val883Phe) n.594G>T c.2687G>T (n.2687G>T) c.1993G>T (p.Val665Phe) c.*2556G>T (n.*2556G>T) c.2737G>T (p.Val913Phe) c.2788G>T (p.Val930Phe) n.509G>T c.2794G>T (p.Val932Phe) n.2952G>T n.446G>T c.*319G>T (n.*319G>T) c.2614G>T (p.Val872Phe) c.2659G>T (p.Val887Phe) c.93G>T | COSMIC |
| 5 | g.78039058C>G | CA360331868 | AP3B1 | c.2647G>C (p.Val883Leu) n.594G>C c.2687G>C (n.2687G>C) c.1993G>C (p.Val665Leu) c.*2556G>C (n.*2556G>C) c.2737G>C (p.Val913Leu) c.2788G>C (p.Val930Leu) n.509G>C c.2794G>C (p.Val932Leu) n.2952G>C n.446G>C c.*319G>C (n.*319G>C) c.2614G>C (p.Val872Leu) c.2659G>C (p.Val887Leu) c.93G>C | gnomAD v4 |
| 5 | g.78039058C>T | CA360331869 | AP3B1 | c.2647G>A (p.Val883Ile) n.594G>A c.2687G>A (n.2687G>A) c.1993G>A (p.Val665Ile) c.*2556G>A (n.*2556G>A) c.2737G>A (p.Val913Ile) c.2788G>A (p.Val930Ile) n.509G>A c.2794G>A (p.Val932Ile) n.2952G>A n.446G>A c.*319G>A (n.*319G>A) c.2614G>A (p.Val872Ile) c.2659G>A (p.Val887Ile) c.93G>A | |
| 5 | g.78039059A>C | CA360331870 | AP3B1 | c.2646T>G (p.His882Gln) n.593T>G c.2686T>G (n.2686T>G) c.1992T>G (p.His664Gln) c.*2555T>G (n.*2555T>G) c.2736T>G (p.His912Gln) c.2787T>G (p.His929Gln) n.508T>G c.2793T>G (p.His931Gln) n.2951T>G n.445T>G c.*318T>G (n.*318T>G) c.2613T>G (p.His871Gln) c.2658T>G (p.His886Gln) c.92T>G | |
| 5 | g.78039059A>G | CA445400121 | AP3B1 | c.2646T>C (p.His882=) n.593T>C c.2686T>C (n.2686T>C) c.1992T>C (p.His664=) c.*2555T>C (n.*2555T>C) c.2736T>C (p.His912=) c.2787T>C (p.His929=) n.508T>C c.2793T>C (p.His931=) n.2951T>C n.445T>C c.*318T>C (n.*318T>C) c.2613T>C (p.His871=) c.2658T>C (p.His886=) c.92T>C | ClinVar dbSNP |
| 5 | g.78039059A>T | CA360331871 | AP3B1 | c.2646T>A (p.His882Gln) n.593T>A c.2686T>A (n.2686T>A) c.1992T>A (p.His664Gln) c.*2555T>A (n.*2555T>A) c.2736T>A (p.His912Gln) c.2787T>A (p.His929Gln) n.508T>A c.2793T>A (p.His931Gln) n.2951T>A n.445T>A c.*318T>A (n.*318T>A) c.2613T>A (p.His871Gln) c.2658T>A (p.His886Gln) c.92T>A | |
| 5 | g.78039060T>A | CA360331872 | AP3B1 | c.2645A>T (p.His882Leu) n.592A>T c.2685A>T (n.2685A>T) c.1991A>T (p.His664Leu) c.*2554A>T (n.*2554A>T) c.2735A>T (p.His912Leu) c.2786A>T (p.His929Leu) n.507A>T c.2792A>T (p.His931Leu) n.2950A>T n.444A>T c.*317A>T (n.*317A>T) c.2612A>T (p.His871Leu) c.2657A>T (p.His886Leu) c.91A>T | |
| 5 | g.78039060T>C | CA360331873 | AP3B1 | c.2645A>G (p.His882Arg) n.592A>G c.2685A>G (n.2685A>G) c.1991A>G (p.His664Arg) c.*2554A>G (n.*2554A>G) c.2735A>G (p.His912Arg) c.2786A>G (p.His929Arg) n.507A>G c.2792A>G (p.His931Arg) n.2950A>G n.444A>G c.*317A>G (n.*317A>G) c.2612A>G (p.His871Arg) c.2657A>G (p.His886Arg) c.91A>G | dbSNP gnomAD v4 |
| 5 | g.78039060T>G | CA360331874 | AP3B1 | c.2645A>C (p.His882Pro) n.592A>C c.2685A>C (n.2685A>C) c.1991A>C (p.His664Pro) c.*2554A>C (n.*2554A>C) c.2735A>C (p.His912Pro) c.2786A>C (p.His929Pro) n.507A>C c.2792A>C (p.His931Pro) n.2950A>C n.444A>C c.*317A>C (n.*317A>C) c.2612A>C (p.His871Pro) c.2657A>C (p.His886Pro) c.91A>C | dbSNP |
| 5 | g.78039060T= | CA1557269090 | AP3B1 | c.2645A= (p.His882=) n.592A= c.2685A= (n.2685A=) c.1991A= (p.His664=) c.*2554A= (n.*2554A=) c.2735A= (p.His912=) c.2786A= (p.His929=) n.507A= c.2792A= (p.His931=) n.2950A= n.444A= c.*317A= (n.*317A=) c.2612A= (p.His871=) c.2657A= (p.His886=) c.91A= | |
| 5 | g.78039061G>A | CA360331875 | AP3B1 | c.2644C>T (p.His882Tyr) n.591C>T c.2684C>T (n.2684C>T) c.1990C>T (p.His664Tyr) c.*2553C>T (n.*2553C>T) c.2734C>T (p.His912Tyr) c.2785C>T (p.His929Tyr) n.506C>T c.2791C>T (p.His931Tyr) n.2949C>T n.443C>T c.*316C>T (n.*316C>T) c.2611C>T (p.His871Tyr) c.2656C>T (p.His886Tyr) c.90C>T | COSMIC |
| 5 | g.78039061G>C | CA360331876 | AP3B1 | c.2644C>G (p.His882Asp) n.591C>G c.2684C>G (n.2684C>G) c.1990C>G (p.His664Asp) c.*2553C>G (n.*2553C>G) c.2734C>G (p.His912Asp) c.2785C>G (p.His929Asp) n.506C>G c.2791C>G (p.His931Asp) n.2949C>G n.443C>G c.*316C>G (n.*316C>G) c.2611C>G (p.His871Asp) c.2656C>G (p.His886Asp) c.90C>G | |
| 5 | g.78039061G>T | CA360331877 | AP3B1 | c.2644C>A (p.His882Asn) n.591C>A c.2684C>A (n.2684C>A) c.1990C>A (p.His664Asn) c.*2553C>A (n.*2553C>A) c.2734C>A (p.His912Asn) c.2785C>A (p.His929Asn) n.506C>A c.2791C>A (p.His931Asn) n.2949C>A n.443C>A c.*316C>A (n.*316C>A) c.2611C>A (p.His871Asn) c.2656C>A (p.His886Asn) c.90C>A | |
| 5 | g.78039062C>A | CA360331879 | AP3B1 | c.2643G>T (p.Met881Ile) n.590G>T c.2683G>T (n.2683G>T) c.1989G>T (p.Met663Ile) c.*2552G>T (n.*2552G>T) c.2733G>T (p.Met911Ile) c.2784G>T (p.Met928Ile) n.505G>T c.2790G>T (p.Met930Ile) n.2948G>T n.442G>T c.*315G>T (n.*315G>T) c.2610G>T (p.Met870Ile) c.2655G>T (p.Met885Ile) c.89G>T | gnomAD v4 |
| 5 | g.78039062C>G | CA360331880 | AP3B1 | c.2643G>C (p.Met881Ile) n.590G>C c.2683G>C (n.2683G>C) c.1989G>C (p.Met663Ile) c.*2552G>C (n.*2552G>C) c.2733G>C (p.Met911Ile) c.2784G>C (p.Met928Ile) n.505G>C c.2790G>C (p.Met930Ile) n.2948G>C n.442G>C c.*315G>C (n.*315G>C) c.2610G>C (p.Met870Ile) c.2655G>C (p.Met885Ile) c.89G>C | |
| 5 | g.78039062C>T | CA360331878 | AP3B1 | c.2643G>A (p.Met881Ile) n.590G>A c.2683G>A (n.2683G>A) c.1989G>A (p.Met663Ile) c.*2552G>A (n.*2552G>A) c.2733G>A (p.Met911Ile) c.2784G>A (p.Met928Ile) n.505G>A c.2790G>A (p.Met930Ile) n.2948G>A n.442G>A c.*315G>A (n.*315G>A) c.2610G>A (p.Met870Ile) c.2655G>A (p.Met885Ile) c.89G>A | gnomAD v4 |
| 5 | g.78039063A>C | CA360331881 | AP3B1 | c.2642T>G (p.Met881Arg) n.589T>G c.2682T>G (n.2682T>G) c.1988T>G (p.Met663Arg) c.*2551T>G (n.*2551T>G) c.2732T>G (p.Met911Arg) c.2783T>G (p.Met928Arg) n.504T>G c.2789T>G (p.Met930Arg) n.2947T>G n.441T>G c.*314T>G (n.*314T>G) c.2609T>G (p.Met870Arg) c.2654T>G (p.Met885Arg) c.88T>G | |
| 5 | g.78039063A>G | CA360331882 | AP3B1 | c.2642T>C (p.Met881Thr) n.589T>C c.2682T>C (n.2682T>C) c.1988T>C (p.Met663Thr) c.*2551T>C (n.*2551T>C) c.2732T>C (p.Met911Thr) c.2783T>C (p.Met928Thr) n.504T>C c.2789T>C (p.Met930Thr) n.2947T>C n.441T>C c.*314T>C (n.*314T>C) c.2609T>C (p.Met870Thr) c.2654T>C (p.Met885Thr) c.88T>C | |
| 5 | g.78039063A>T | CA360331883 | AP3B1 | c.2642T>A (p.Met881Lys) n.589T>A c.2682T>A (n.2682T>A) c.1988T>A (p.Met663Lys) c.*2551T>A (n.*2551T>A) c.2732T>A (p.Met911Lys) c.2783T>A (p.Met928Lys) n.504T>A c.2789T>A (p.Met930Lys) n.2947T>A n.441T>A c.*314T>A (n.*314T>A) c.2609T>A (p.Met870Lys) c.2654T>A (p.Met885Lys) c.88T>A | |
| 5 | g.78039064T>A | CA360331884 | AP3B1 | c.2641A>T (p.Met881Leu) n.588A>T c.2681A>T (n.2681A>T) c.1987A>T (p.Met663Leu) c.*2550A>T (n.*2550A>T) c.2731A>T (p.Met911Leu) c.2782A>T (p.Met928Leu) n.503A>T c.2788A>T (p.Met930Leu) n.2946A>T n.440A>T c.*313A>T (n.*313A>T) c.2608A>T (p.Met870Leu) c.2653A>T (p.Met885Leu) c.87A>T | |
| 5 | g.78039064T>C | CA360331885 | AP3B1 | c.2641A>G (p.Met881Val) n.588A>G c.2681A>G (n.2681A>G) c.1987A>G (p.Met663Val) c.*2550A>G (n.*2550A>G) c.2731A>G (p.Met911Val) c.2782A>G (p.Met928Val) n.503A>G c.2788A>G (p.Met930Val) n.2946A>G n.440A>G c.*313A>G (n.*313A>G) c.2608A>G (p.Met870Val) c.2653A>G (p.Met885Val) c.87A>G |