Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.215011454T>ACA350483412ABCA12c.2317A>T (p.Ile773Phe)
c.1363A>T (p.Ile455Phe)
n.2561A>T
n.2759A>T
2g.215011454T>CCA350483413ABCA12c.2317A>G (p.Ile773Val)
c.1363A>G (p.Ile455Val)
n.2561A>G
n.2759A>G
2g.215011454T>GCA350483414ABCA12c.2317A>C (p.Ile773Leu)
c.1363A>C (p.Ile455Leu)
n.2561A>C
n.2759A>C
2g.215011455T>ACA431151418ABCA12c.2316A>T (p.Gly772=)
c.1362A>T (p.Gly454=)
n.2560A>T
n.2758A>T
2g.215011455T>CCA431151420ABCA12c.2316A>G (p.Gly772=)
c.1362A>G (p.Gly454=)
n.2560A>G
n.2758A>G
2g.215011455T>GCA431151419ABCA12c.2316A>C (p.Gly772=)
c.1362A>C (p.Gly454=)
n.2560A>C
n.2758A>C
2g.215011456C>ACA350483415ABCA12c.2315G>T (p.Gly772Val)
c.1361G>T (p.Gly454Val)
n.2559G>T
n.2757G>T
2g.215011456C>GCA350483416ABCA12c.2315G>C (p.Gly772Ala)
c.1361G>C (p.Gly454Ala)
n.2559G>C
n.2757G>C
2g.215011456C>TCA350483417ABCA12c.2315G>A (p.Gly772Glu)
c.1361G>A (p.Gly454Glu)
n.2559G>A
n.2757G>A
 COSMIC COSMIC
2g.215011457C>ACA350483418ABCA12c.2314G>T (p.Gly772Ter)
c.1360G>T (p.Gly454Ter)
n.2558G>T
n.2756G>T
2g.215011457C>GCA350483419ABCA12c.2314G>C (p.Gly772Arg)
c.1360G>C (p.Gly454Arg)
n.2558G>C
n.2756G>C
2g.215011457C>TCA350483420ABCA12c.2314G>A (p.Gly772Arg)
c.1360G>A (p.Gly454Arg)
n.2558G>A
n.2756G>A
2g.215011458A>CCA350483422ABCA12c.2313T>G (p.Tyr771Ter)
c.1359T>G (p.Tyr453Ter)
n.2557T>G
n.2755T>G
2g.215011458A>GCA431151421ABCA12c.2313T>C (p.Tyr771=)
c.1359T>C (p.Tyr453=)
n.2557T>C
n.2755T>C
2g.215011458A>TCA350483421ABCA12c.2313T>A (p.Tyr771Ter)
c.1359T>A (p.Tyr453Ter)
n.2557T>A
n.2755T>A
2g.215011459T>ACA350483423ABCA12c.2312A>T (p.Tyr771Phe)
c.1358A>T (p.Tyr453Phe)
n.2556A>T
n.2754A>T
 dbSNP gnomAD v4
2g.215011459T>CCA350483424ABCA12c.2312A>G (p.Tyr771Cys)
c.1358A>G (p.Tyr453Cys)
n.2556A>G
n.2754A>G
 dbSNP gnomAD v4
2g.215011459T>GCA350483425ABCA12c.2312A>C (p.Tyr771Ser)
c.1358A>C (p.Tyr453Ser)
n.2556A>C
n.2754A>C
2g.215011459T=CA1327174103ABCA12c.2312A= (p.Tyr771=)
c.1358A= (p.Tyr453=)
n.2556A=
n.2754A=
2g.215011460A>CCA350483426ABCA12c.2311T>G (p.Tyr771Asp)
c.1357T>G (p.Tyr453Asp)
n.2555T>G
n.2753T>G
2g.215011460A>GCA350483427ABCA12c.2311T>C (p.Tyr771His)
c.1357T>C (p.Tyr453His)
n.2555T>C
n.2753T>C
2g.215011460A>TCA350483428ABCA12c.2311T>A (p.Tyr771Asn)
c.1357T>A (p.Tyr453Asn)
n.2555T>A
n.2753T>A
2g.215011461T>ACA350483429ABCA12c.2310A>T (p.Lys770Asn)
c.1356A>T (p.Lys452Asn)
n.2554A>T
n.2752A>T
2g.215011461T>CCA431151422ABCA12c.2310A>G (p.Lys770=)
c.1356A>G (p.Lys452=)
n.2554A>G
n.2752A>G
2g.215011461T>GCA350483430ABCA12c.2310A>C (p.Lys770Asn)
c.1356A>C (p.Lys452Asn)
n.2554A>C
n.2752A>C
2g.215011462T>ACA350483431ABCA12c.2309A>T (p.Lys770Ile)
c.1355A>T (p.Lys452Ile)
n.2553A>T
n.2751A>T
2g.215011462T>CCA350483432ABCA12c.2309A>G (p.Lys770Arg)
c.1355A>G (p.Lys452Arg)
n.2553A>G
n.2751A>G
2g.215011462T>GCA350483433ABCA12c.2309A>C (p.Lys770Thr)
c.1355A>C (p.Lys452Thr)
n.2553A>C
n.2751A>C
2g.215011463T>ACA350483436ABCA12c.2308A>T (p.Lys770Ter)
c.1354A>T (p.Lys452Ter)
n.2552A>T
n.2750A>T
2g.215011463T>CCA350483435ABCA12c.2308A>G (p.Lys770Glu)
c.1354A>G (p.Lys452Glu)
n.2552A>G
n.2750A>G
2g.215011463T>GCA350483434ABCA12c.2308A>C (p.Lys770Gln)
c.1354A>C (p.Lys452Gln)
n.2552A>C
n.2750A>C
2g.215011464T>ACA431151424ABCA12c.2307A>T (p.Ser769=)
c.1353A>T (p.Ser451=)
n.2551A>T
n.2749A>T
2g.215011464T>CCA431151425ABCA12c.2307A>G (p.Ser769=)
c.1353A>G (p.Ser451=)
n.2551A>G
n.2749A>G
2g.215011464T>GCA431151426ABCA12c.2307A>C (p.Ser769=)
c.1353A>C (p.Ser451=)
n.2551A>C
n.2749A>C
2g.215011465G>ACA350483437ABCA12c.2306C>T (p.Ser769Leu)
c.1352C>T (p.Ser451Leu)
n.2550C>T
n.2748C>T
 gnomAD v4 COSMIC COSMIC
2g.215011465G>CCA350483438ABCA12c.2306C>G (p.Ser769Ter)
c.1352C>G (p.Ser451Ter)
n.2550C>G
n.2748C>G
2g.215011465G>TCA350483439ABCA12c.2306C>A (p.Ser769Ter)
c.1352C>A (p.Ser451Ter)
n.2550C>A
n.2748C>A
 gnomAD v4
2g.215011466A>CCA350483440ABCA12c.2305T>G (p.Ser769Ala)
c.1351T>G (p.Ser451Ala)
n.2549T>G
n.2747T>G
2g.215011466A>GCA350483441ABCA12c.2305T>C (p.Ser769Pro)
c.1351T>C (p.Ser451Pro)
n.2549T>C
n.2747T>C
2g.215011466A>TCA350483442ABCA12c.2305T>A (p.Ser769Thr)
c.1351T>A (p.Ser451Thr)
n.2549T>A
n.2747T>A
2g.215011467A=CA1327174104ABCA12c.2304T= (p.Ala768=)
c.1350T= (p.Ala450=)
n.2548T=
n.2746T=
2g.215011467A>CCA431151427ABCA12c.2304T>G (p.Ala768=)
c.1350T>G (p.Ala450=)
n.2548T>G
n.2746T>G
 gnomAD v4
2g.215011467A>GCA2091994ABCA12c.2304T>C (p.Ala768=)
c.1350T>C (p.Ala450=)
n.2548T>C
n.2746T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011467A>TCA431151428ABCA12c.2304T>A (p.Ala768=)
c.1350T>A (p.Ala450=)
n.2548T>A
n.2746T>A
2g.215011468G>ACA350483443ABCA12c.2303C>T (p.Ala768Val)
c.1349C>T (p.Ala450Val)
n.2547C>T
n.2745C>T
2g.215011468G>CCA350483444ABCA12c.2303C>G (p.Ala768Gly)
c.1349C>G (p.Ala450Gly)
n.2547C>G
n.2745C>G
2g.215011468G>TCA350483445ABCA12c.2303C>A (p.Ala768Asp)
c.1349C>A (p.Ala450Asp)
n.2547C>A
n.2745C>A
2g.215011469C>ACA350483446ABCA12c.2302G>T (p.Ala768Ser)
c.1348G>T (p.Ala450Ser)
n.2546G>T
n.2744G>T
 dbSNP gnomAD v3 gnomAD v4
2g.215011469C=CA1327174105ABCA12c.2302G= (p.Ala768=)
c.1348G= (p.Ala450=)
n.2546G=
n.2744G=
2g.215011469C>GCA350483447ABCA12c.2302G>C (p.Ala768Pro)
c.1348G>C (p.Ala450Pro)
n.2546G>C
n.2744G>C
2g.215011469C>TCA2091995ABCA12c.2302G>A (p.Ala768Thr)
c.1348G>A (p.Ala450Thr)
n.2546G>A
n.2744G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215011470A=CA1327174106ABCA12c.2301T= (p.Ile767=)
c.1347T= (p.Ile449=)
n.2545T=
n.2743T=
2g.215011470A>CCA350483448ABCA12c.2301T>G (p.Ile767Met)
c.1347T>G (p.Ile449Met)
n.2545T>G
n.2743T>G
2g.215011470A>GCA431151429ABCA12c.2301T>C (p.Ile767=)
c.1347T>C (p.Ile449=)
n.2545T>C
n.2743T>C
 dbSNP
2g.215011470A>TCA431151430ABCA12c.2301T>A (p.Ile767=)
c.1347T>A (p.Ile449=)
n.2545T>A
n.2743T>A
 dbSNP gnomAD v2 gnomAD v4
2g.215011471A=CA1327174107ABCA12c.2300T= (p.Ile767=)
c.1346T= (p.Ile449=)
n.2544T=
n.2742T=
2g.215011471A>CCA350483449ABCA12c.2300T>G (p.Ile767Ser)
c.1346T>G (p.Ile449Ser)
n.2544T>G
n.2742T>G
2g.215011471A>GCA350483450ABCA12c.2300T>C (p.Ile767Thr)
c.1346T>C (p.Ile449Thr)
n.2544T>C
n.2742T>C
 gnomAD v4
2g.215011471A>TCA64844252ABCA12c.2300T>A (p.Ile767Asn)
c.1346T>A (p.Ile449Asn)
n.2544T>A
n.2742T>A
 dbSNP
2g.215011472T>ACA350483451ABCA12c.2299A>T (p.Ile767Phe)
c.1345A>T (p.Ile449Phe)
n.2543A>T
n.2741A>T
2g.215011472T>CCA350483452ABCA12c.2299A>G (p.Ile767Val)
c.1345A>G (p.Ile449Val)
n.2543A>G
n.2741A>G
 dbSNP gnomAD v3 gnomAD v4
2g.215011472T>GCA350483453ABCA12c.2299A>C (p.Ile767Leu)
c.1345A>C (p.Ile449Leu)
n.2543A>C
n.2741A>C
2g.215011472T=CA1327174108ABCA12c.2299A= (p.Ile767=)
c.1345A= (p.Ile449=)
n.2543A=
n.2741A=
2g.215011473T>ACA350483454ABCA12c.2298A>T (p.Gln766His)
c.1344A>T (p.Gln448His)
n.2542A>T
n.2740A>T
2g.215011473T>CCA64844262ABCA12c.2298A>G (p.Gln766=)
c.1344A>G (p.Gln448=)
n.2542A>G
n.2740A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215011473T>GCA350483455ABCA12c.2298A>C (p.Gln766His)
c.1344A>C (p.Gln448His)
n.2542A>C
n.2740A>C
2g.215011473T=CA1327174109ABCA12c.2298A= (p.Gln766=)
c.1344A= (p.Gln448=)
n.2542A=
n.2740A=
2g.215011474T>ACA350483456ABCA12c.2297A>T (p.Gln766Leu)
c.1343A>T (p.Gln448Leu)
n.2541A>T
n.2739A>T
2g.215011474T>CCA350483457ABCA12c.2297A>G (p.Gln766Arg)
c.1343A>G (p.Gln448Arg)
n.2541A>G
n.2739A>G
 gnomAD v4
2g.215011474T>GCA350483458ABCA12c.2297A>C (p.Gln766Pro)
c.1343A>C (p.Gln448Pro)
n.2541A>C
n.2739A>C
2g.215011475G>ACA350483459ABCA12c.2296C>T (p.Gln766Ter)
c.1342C>T (p.Gln448Ter)
n.2540C>T
n.2738C>T
 ClinVar dbSNP
2g.215011475G>CCA350483460ABCA12c.2296C>G (p.Gln766Glu)
c.1342C>G (p.Gln448Glu)
n.2540C>G
n.2738C>G
 dbSNP
2g.215011475G=CA1327174110ABCA12c.2296C= (p.Gln766=)
c.1342C= (p.Gln448=)
n.2540C=
n.2738C=
2g.215011475G>TCA2091996ABCA12c.2296C>A (p.Gln766Lys)
c.1342C>A (p.Gln448Lys)
n.2540C>A
n.2738C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215011476C>ACA350483462ABCA12c.2295G>T (p.Glu765Asp)
c.1341G>T (p.Glu447Asp)
n.2539G>T
n.2737G>T
2g.215011476C=CA1327174111ABCA12c.2295G= (p.Glu765=)
c.1341G= (p.Glu447=)
n.2539G=
n.2737G=
2g.215011476C>GCA350483461ABCA12c.2295G>C (p.Glu765Asp)
c.1341G>C (p.Glu447Asp)
n.2539G>C
n.2737G>C
2g.215011476C>TCA2091997ABCA12c.2295G>A (p.Glu765=)
c.1341G>A (p.Glu447=)
n.2539G>A
n.2737G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011477T>ACA350483463ABCA12c.2294A>T (p.Glu765Val)
c.1340A>T (p.Glu447Val)
n.2538A>T
n.2736A>T
2g.215011477T>CCA350483464ABCA12c.2294A>G (p.Glu765Gly)
c.1340A>G (p.Glu447Gly)
n.2538A>G
n.2736A>G
2g.215011477T>GCA350483465ABCA12c.2294A>C (p.Glu765Ala)
c.1340A>C (p.Glu447Ala)
n.2538A>C
n.2736A>C
 dbSNP
2g.215011478C>ACA350483466ABCA12c.2293G>T (p.Glu765Ter)
c.1339G>T (p.Glu447Ter)
n.2537G>T
n.2735G>T
2g.215011478C>GCA350483467ABCA12c.2293G>C (p.Glu765Gln)
c.1339G>C (p.Glu447Gln)
n.2537G>C
n.2735G>C
 COSMIC COSMIC
2g.215011478C>TCA350483468ABCA12c.2293G>A (p.Glu765Lys)
c.1339G>A (p.Glu447Lys)
n.2537G>A
n.2735G>A
2g.215011479T>ACA350483469ABCA12c.2292A>T (p.Lys764Asn)
c.1338A>T (p.Lys446Asn)
n.2536A>T
n.2734A>T
2g.215011479T>CCA431151431ABCA12c.2292A>G (p.Lys764=)
c.1338A>G (p.Lys446=)
n.2536A>G
n.2734A>G
2g.215011479T>GCA350483470ABCA12c.2292A>C (p.Lys764Asn)
c.1338A>C (p.Lys446Asn)
n.2536A>C
n.2734A>C
2g.215011480T>ACA350483471ABCA12c.2291A>T (p.Lys764Ile)
c.1337A>T (p.Lys446Ile)
n.2535A>T
n.2733A>T
 dbSNP gnomAD v2 gnomAD v4
2g.215011480T>CCA350483472ABCA12c.2291A>G (p.Lys764Arg)
c.1337A>G (p.Lys446Arg)
n.2535A>G
n.2733A>G
2g.215011480T>GCA64844283ABCA12c.2291A>C (p.Lys764Thr)
c.1337A>C (p.Lys446Thr)
n.2535A>C
n.2733A>C
 dbSNP gnomAD v3 gnomAD v4
2g.215011480T=CA1327174112ABCA12c.2291A= (p.Lys764=)
c.1337A= (p.Lys446=)
n.2535A=
n.2733A=
2g.215011481T>ACA350483473ABCA12c.2290A>T (p.Lys764Ter)
c.1336A>T (p.Lys446Ter)
n.2534A>T
n.2732A>T
2g.215011481T>CCA350483475ABCA12c.2290A>G (p.Lys764Glu)
c.1336A>G (p.Lys446Glu)
n.2534A>G
n.2732A>G
 gnomAD v4
2g.215011481T>GCA350483474ABCA12c.2290A>C (p.Lys764Gln)
c.1336A>C (p.Lys446Gln)
n.2534A>C
n.2732A>C
2g.215011482A>CCA431151432ABCA12c.2289T>G (p.Thr763=)
c.1335T>G (p.Thr445=)
n.2533T>G
n.2731T>G
2g.215011482A>GCA431151434ABCA12c.2289T>C (p.Thr763=)
c.1335T>C (p.Thr445=)
n.2533T>C
n.2731T>C
2g.215011482A>TCA431151433ABCA12c.2289T>A (p.Thr763=)
c.1335T>A (p.Thr445=)
n.2533T>A
n.2731T>A
2g.215011483G>ACA2091998ABCA12c.2288C>T (p.Thr763Ile)
c.1334C>T (p.Thr445Ile)
n.2532C>T
n.2730C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011483G>CCA350483476ABCA12c.2288C>G (p.Thr763Ser)
c.1334C>G (p.Thr445Ser)
n.2532C>G
n.2730C>G
2g.215011483G=CA1327174113ABCA12c.2288C= (p.Thr763=)
c.1334C= (p.Thr445=)
n.2532C=
n.2730C=
2g.215011483G>TCA350483477ABCA12c.2288C>A (p.Thr763Asn)
c.1334C>A (p.Thr445Asn)
n.2532C>A
n.2730C>A
2g.215011484T>ACA350483478ABCA12c.2287A>T (p.Thr763Ser)
c.1333A>T (p.Thr445Ser)
n.2531A>T
n.2729A>T
2g.215011484T>CCA350483479ABCA12c.2287A>G (p.Thr763Ala)
c.1333A>G (p.Thr445Ala)
n.2531A>G
n.2729A>G
2g.215011484T>GCA350483480ABCA12c.2287A>C (p.Thr763Pro)
c.1333A>C (p.Thr445Pro)
n.2531A>C
n.2729A>C
2g.215011485T>ACA350483481ABCA12c.2286A>T (p.Leu762Phe)
c.1332A>T (p.Leu444Phe)
n.2530A>T
n.2728A>T
2g.215011485T>CCA431151435ABCA12c.2286A>G (p.Leu762=)
c.1332A>G (p.Leu444=)
n.2530A>G
n.2728A>G
2g.215011485T>GCA350483482ABCA12c.2286A>C (p.Leu762Phe)
c.1332A>C (p.Leu444Phe)
n.2530A>C
n.2728A>C
2g.215011486A>CCA350483483ABCA12c.2285T>G (p.Leu762Ter)
c.1331T>G (p.Leu444Ter)
n.2529T>G
n.2727T>G
 COSMIC
2g.215011486A>GCA350483484ABCA12c.2285T>C (p.Leu762Ser)
c.1331T>C (p.Leu444Ser)
n.2529T>C
n.2727T>C
2g.215011486A>TCA350483485ABCA12c.2285T>A (p.Leu762Ter)
c.1331T>A (p.Leu444Ter)
n.2529T>A
n.2727T>A
2g.215011487A>CCA350483487ABCA12c.2284T>G (p.Leu762Val)
c.1330T>G (p.Leu444Val)
n.2528T>G
n.2726T>G
2g.215011487A>GCA431151436ABCA12c.2284T>C (p.Leu762=)
c.1330T>C (p.Leu444=)
n.2528T>C
n.2726T>C
2g.215011487A>TCA350483486ABCA12c.2284T>A (p.Leu762Ile)
c.1330T>A (p.Leu444Ile)
n.2528T>A
n.2726T>A
2g.215011488T>ACA350483488ABCA12c.2283A>T (p.Lys761Asn)
c.1329A>T (p.Lys443Asn)
n.2527A>T
n.2725A>T
2g.215011488T>CCA431151437ABCA12c.2283A>G (p.Lys761=)
c.1329A>G (p.Lys443=)
n.2527A>G
n.2725A>G
2g.215011488T>GCA350483489ABCA12c.2283A>C (p.Lys761Asn)
c.1329A>C (p.Lys443Asn)
n.2527A>C
n.2725A>C
2g.215011489T>ACA350483490ABCA12c.2282A>T (p.Lys761Ile)
c.1328A>T (p.Lys443Ile)
n.2526A>T
n.2724A>T
2g.215011489T>CCA2091999ABCA12c.2282A>G (p.Lys761Arg)
c.1328A>G (p.Lys443Arg)
n.2526A>G
n.2724A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011489T>GCA350483491ABCA12c.2282A>C (p.Lys761Thr)
c.1328A>C (p.Lys443Thr)
n.2526A>C
n.2724A>C
2g.215011489T=CA1327174114ABCA12c.2282A= (p.Lys761=)
c.1328A= (p.Lys443=)
n.2526A=
n.2724A=
2g.215011490T>ACA350483492ABCA12c.2281A>T (p.Lys761Ter)
c.1327A>T (p.Lys443Ter)
n.2525A>T
n.2723A>T
2g.215011490T>CCA350483493ABCA12c.2281A>G (p.Lys761Glu)
c.1327A>G (p.Lys443Glu)
n.2525A>G
n.2723A>G
2g.215011490T>GCA350483494ABCA12c.2281A>C (p.Lys761Gln)
c.1327A>C (p.Lys443Gln)
n.2525A>C
n.2723A>C
2g.215011491A=CA1327174115ABCA12c.2280T= (p.Tyr760=)
c.1326T= (p.Tyr442=)
n.2524T=
n.2722T=
2g.215011491A>CCA350483495ABCA12c.2280T>G (p.Tyr760Ter)
c.1326T>G (p.Tyr442Ter)
n.2524T>G
n.2722T>G
2g.215011491A>GCA2092000ABCA12c.2280T>C (p.Tyr760=)
c.1326T>C (p.Tyr442=)
n.2524T>C
n.2722T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011491A>TCA350483496ABCA12c.2280T>A (p.Tyr760Ter)
c.1326T>A (p.Tyr442Ter)
n.2524T>A
n.2722T>A
2g.215011492T>ACA350483497ABCA12c.2279A>T (p.Tyr760Phe)
c.1325A>T (p.Tyr442Phe)
n.2523A>T
n.2721A>T
2g.215011492T>CCA350483498ABCA12c.2279A>G (p.Tyr760Cys)
c.1325A>G (p.Tyr442Cys)
n.2523A>G
n.2721A>G
2g.215011492T>GCA350483499ABCA12c.2279A>C (p.Tyr760Ser)
c.1325A>C (p.Tyr442Ser)
n.2523A>C
n.2721A>C
2g.215011493A>CCA350483502ABCA12c.2278T>G (p.Tyr760Asp)
c.1324T>G (p.Tyr442Asp)
n.2522T>G
n.2720T>G
2g.215011493A>GCA350483501ABCA12c.2278T>C (p.Tyr760His)
c.1324T>C (p.Tyr442His)
n.2522T>C
n.2720T>C
2g.215011493A>TCA350483500ABCA12c.2278T>A (p.Tyr760Asn)
c.1324T>A (p.Tyr442Asn)
n.2522T>A
n.2720T>A
2g.215011494A>CCA431151438ABCA12c.2277T>G (p.Thr759=)
c.1323T>G (p.Thr441=)
n.2521T>G
n.2719T>G
2g.215011494A>GCA431151439ABCA12c.2277T>C (p.Thr759=)
c.1323T>C (p.Thr441=)
n.2521T>C
n.2719T>C
2g.215011494A>TCA431151440ABCA12c.2277T>A (p.Thr759=)
c.1323T>A (p.Thr441=)
n.2521T>A
n.2719T>A
2g.215011495G>ACA350483503ABCA12c.2276C>T (p.Thr759Ile)
c.1322C>T (p.Thr441Ile)
n.2520C>T
n.2718C>T
 gnomAD v4
2g.215011495G>CCA10614259ABCA12c.2276C>G (p.Thr759Ser)
c.1322C>G (p.Thr441Ser)
n.2520C>G
n.2718C>G
 ClinVar dbSNP gnomAD v4
2g.215011495G=CA1327174116ABCA12c.2276C= (p.Thr759=)
c.1322C= (p.Thr441=)
n.2520C=
n.2718C=
2g.215011495G>TCA350483504ABCA12c.2276C>A (p.Thr759Asn)
c.1322C>A (p.Thr441Asn)
n.2520C>A
n.2718C>A
2g.215011496T>ACA350483505ABCA12c.2275A>T (p.Thr759Ser)
c.1321A>T (p.Thr441Ser)
n.2519A>T
n.2717A>T
2g.215011496T>CCA350483506ABCA12c.2275A>G (p.Thr759Ala)
c.1321A>G (p.Thr441Ala)
n.2519A>G
n.2717A>G
 gnomAD v4
2g.215011496T>GCA350483507ABCA12c.2275A>C (p.Thr759Pro)
c.1321A>C (p.Thr441Pro)
n.2519A>C
n.2717A>C
 COSMIC
2g.215011496dupCA2586971326ABCA12c.2275dup (p.Thr759AsnfsTer3)
c.1321dup (p.Thr441AsnfsTer3)
n.2519dup
n.2717dup
2g.215011497C>ACA350483508ABCA12c.2274G>T (p.Leu758Phe)
c.1320G>T (p.Leu440Phe)
n.2518G>T
n.2716G>T
2g.215011497C=CA1327174118ABCA12c.2274G= (p.Leu758=)
c.1320G= (p.Leu440=)
n.2518G=
n.2716G=
2g.215011497C>GCA350483509ABCA12c.2274G>C (p.Leu758Phe)
c.1320G>C (p.Leu440Phe)
n.2518G>C
n.2716G>C
 dbSNP gnomAD v2 gnomAD v4
2g.215011497C>TCA431151441ABCA12c.2274G>A (p.Leu758=)
c.1320G>A (p.Leu440=)
n.2518G>A
n.2716G>A
2g.215011497_215011498delinsCACA1327174117ABCA12c.2273_2274delinsTG (p.Leu758=)
c.1319_1320delinsTG (p.Leu440=)
n.2517_2518delinsTG
n.2715_2716delinsTG
2g.215011498A>CCA350483510ABCA12c.2273T>G (p.Leu758Trp)
c.1319T>G (p.Leu440Trp)
n.2517T>G
n.2715T>G
2g.215011498A>GCA350483511ABCA12c.2273T>C (p.Leu758Ser)
c.1319T>C (p.Leu440Ser)
n.2517T>C
n.2715T>C
2g.215011498A>TCA350483512ABCA12c.2273T>A (p.Leu758Ter)
c.1319T>A (p.Leu440Ter)
n.2517T>A
n.2715T>A
2g.215011503dupCA16617466ABCA12c.2273dup (p.Leu758PhefsTer4)
c.1319dup (p.Leu440PhefsTer4)
n.2517dup
n.2715dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.215011503delCA916772342ABCA12c.2273del (p.Leu758Ter)
c.1319del (p.Leu440Ter)
n.2517del
n.2715del
 dbSNP
2g.215011501_215011503delCA2506758453ABCA12c.2271_2273del (p.Phe757del)
c.1317_1319del (p.Phe439del)
n.2515_2517del
n.2713_2715del
2g.215011499A>CCA350483513ABCA12c.2272T>G (p.Leu758Val)
c.1318T>G (p.Leu440Val)
n.2516T>G
n.2714T>G
2g.215011499A>GCA431151442ABCA12c.2272T>C (p.Leu758=)
c.1318T>C (p.Leu440=)
n.2516T>C
n.2714T>C
2g.215011499A>TCA350483514ABCA12c.2272T>A (p.Leu758Met)
c.1318T>A (p.Leu440Met)
n.2516T>A
n.2714T>A
2g.215011500A=CA1327174119ABCA12c.2271T= (p.Phe757=)
c.1317T= (p.Phe439=)
n.2515T=
n.2713T=
2g.215011500A>CCA350483515ABCA12c.2271T>G (p.Phe757Leu)
c.1317T>G (p.Phe439Leu)
n.2515T>G
n.2713T>G
 COSMIC COSMIC
2g.215011500A>GCA431151443ABCA12c.2271T>C (p.Phe757=)
c.1317T>C (p.Phe439=)
n.2515T>C
n.2713T>C
 dbSNP gnomAD v2 gnomAD v4
2g.215011500A>TCA350483516ABCA12c.2271T>A (p.Phe757Leu)
c.1317T>A (p.Phe439Leu)
n.2515T>A
n.2713T>A
2g.215011501A>CCA350483517ABCA12c.2270T>G (p.Phe757Cys)
c.1316T>G (p.Phe439Cys)
n.2514T>G
n.2712T>G
2g.215011501A>GCA350483519ABCA12c.2270T>C (p.Phe757Ser)
c.1316T>C (p.Phe439Ser)
n.2514T>C
n.2712T>C
2g.215011501A>TCA350483518ABCA12c.2270T>A (p.Phe757Tyr)
c.1316T>A (p.Phe439Tyr)
n.2514T>A
n.2712T>A
2g.215011502A>CCA350483520ABCA12c.2269T>G (p.Phe757Val)
c.1315T>G (p.Phe439Val)
n.2513T>G
n.2711T>G
2g.215011502A>GCA350483522ABCA12c.2269T>C (p.Phe757Leu)
c.1315T>C (p.Phe439Leu)
n.2513T>C
n.2711T>C
 COSMIC COSMIC
2g.215011502A>TCA350483521ABCA12c.2269T>A (p.Phe757Ile)
c.1315T>A (p.Phe439Ile)
n.2513T>A
n.2711T>A
2g.215011503A=CA1327174120ABCA12c.2268T= (p.Asp756=)
c.1314T= (p.Asp438=)
n.2512T=
n.2710T=
2g.215011503A>CCA350483523ABCA12c.2268T>G (p.Asp756Glu)
c.1314T>G (p.Asp438Glu)
n.2512T>G
n.2710T>G
2g.215011503A>GCA431151444ABCA12c.2268T>C (p.Asp756=)
c.1314T>C (p.Asp438=)
n.2512T>C
n.2710T>C
 ClinVar dbSNP gnomAD v4
2g.215011503A>TCA350483524ABCA12c.2268T>A (p.Asp756Glu)
c.1314T>A (p.Asp438Glu)
n.2512T>A
n.2710T>A
 gnomAD v4
2g.215011504T>ACA2092001ABCA12c.2267A>T (p.Asp756Val)
c.1313A>T (p.Asp438Val)
n.2511A>T
n.2709A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011504T>CCA2092002ABCA12c.2267A>G (p.Asp756Gly)
c.1313A>G (p.Asp438Gly)
n.2511A>G
n.2709A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011504T>GCA350483525ABCA12c.2267A>C (p.Asp756Ala)
c.1313A>C (p.Asp438Ala)
n.2511A>C
n.2709A>C
2g.215011504T=CA1327174121ABCA12c.2267A= (p.Asp756=)
c.1313A= (p.Asp438=)
n.2511A=
n.2709A=
2g.215011505C>ACA350483526ABCA12c.2266G>T (p.Asp756Tyr)
c.1312G>T (p.Asp438Tyr)
n.2510G>T
n.2708G>T
2g.215011505C>GCA350483527ABCA12c.2266G>C (p.Asp756His)
c.1312G>C (p.Asp438His)
n.2510G>C
n.2708G>C
2g.215011505C>TCA350483528ABCA12c.2266G>A (p.Asp756Asn)
c.1312G>A (p.Asp438Asn)
n.2510G>A
n.2708G>A
 COSMIC COSMIC
2g.215011506C>ACA350483529ABCA12c.2265G>T (p.Lys755Asn)
c.1311G>T (p.Lys437Asn)
n.2509G>T
n.2707G>T
2g.215011506C>GCA350483530ABCA12c.2265G>C (p.Lys755Asn)
c.1311G>C (p.Lys437Asn)
n.2509G>C
n.2707G>C
2g.215011506C>TCA431151445ABCA12c.2265G>A (p.Lys755=)
c.1311G>A (p.Lys437=)
n.2509G>A
n.2707G>A
 gnomAD v4
2g.215011507T>ACA350483533ABCA12c.2264A>T (p.Lys755Met)
c.1310A>T (p.Lys437Met)
n.2508A>T
n.2706A>T
2g.215011507T>CCA350483532ABCA12c.2264A>G (p.Lys755Arg)
c.1310A>G (p.Lys437Arg)
n.2508A>G
n.2706A>G
2g.215011507T>GCA350483531ABCA12c.2264A>C (p.Lys755Thr)
c.1310A>C (p.Lys437Thr)
n.2508A>C
n.2706A>C
2g.215011508T>ACA350483534ABCA12c.2263A>T (p.Lys755Ter)
c.1309A>T (p.Lys437Ter)
n.2507A>T
n.2705A>T
2g.215011508T>CCA350483535ABCA12c.2263A>G (p.Lys755Glu)
c.1309A>G (p.Lys437Glu)
n.2507A>G
n.2705A>G
2g.215011508T>GCA350483536ABCA12c.2263A>C (p.Lys755Gln)
c.1309A>C (p.Lys437Gln)
n.2507A>C
n.2705A>C
2g.215011509G>ACA431151446ABCA12c.2262C>T (p.Thr754=)
c.1308C>T (p.Thr436=)
n.2506C>T
n.2704C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215011509G>CCA431151448ABCA12c.2262C>G (p.Thr754=)
c.1308C>G (p.Thr436=)
n.2506C>G
n.2704C>G
 COSMIC COSMIC
2g.215011509G=CA1327174122ABCA12c.2262C= (p.Thr754=)
c.1308C= (p.Thr436=)
n.2506C=
n.2704C=
2g.215011509G>TCA431151447ABCA12c.2262C>A (p.Thr754=)
c.1308C>A (p.Thr436=)
n.2506C>A
n.2704C>A
2g.215011510G>ACA350483537ABCA12c.2261C>T (p.Thr754Ile)
c.1307C>T (p.Thr436Ile)
n.2505C>T
n.2703C>T
 dbSNP
2g.215011510G>CCA350483538ABCA12c.2261C>G (p.Thr754Ser)
c.1307C>G (p.Thr436Ser)
n.2505C>G
n.2703C>G
2g.215011510G=CA1327174123ABCA12c.2261C= (p.Thr754=)
c.1307C= (p.Thr436=)
n.2505C=
n.2703C=
2g.215011510G>TCA350483539ABCA12c.2261C>A (p.Thr754Asn)
c.1307C>A (p.Thr436Asn)
n.2505C>A
n.2703C>A
2g.215011511T>ACA350483540ABCA12c.2260A>T (p.Thr754Ser)
c.1306A>T (p.Thr436Ser)
n.2504A>T
n.2702A>T
2g.215011511T>CCA350483541ABCA12c.2260A>G (p.Thr754Ala)
c.1306A>G (p.Thr436Ala)
n.2504A>G
n.2702A>G
2g.215011511T>GCA350483542ABCA12c.2260A>C (p.Thr754Pro)
c.1306A>C (p.Thr436Pro)
n.2504A>C
n.2702A>C
2g.215011512G>ACA431151449ABCA12c.2259C>T (p.His753=)
c.1305C>T (p.His435=)
n.2503C>T
n.2701C>T
 gnomAD v4
2g.215011512G>CCA350483543ABCA12c.2259C>G (p.His753Gln)
c.1305C>G (p.His435Gln)
n.2503C>G
n.2701C>G
2g.215011512G>TCA350483544ABCA12c.2259C>A (p.His753Gln)
c.1305C>A (p.His435Gln)
n.2503C>A
n.2701C>A
2g.215011513T>ACA350483547ABCA12c.2258A>T (p.His753Leu)
c.1304A>T (p.His435Leu)
n.2502A>T
n.2700A>T
2g.215011513T>CCA350483546ABCA12c.2258A>G (p.His753Arg)
c.1304A>G (p.His435Arg)
n.2502A>G
n.2700A>G
 gnomAD v4 COSMIC COSMIC
2g.215011513T>GCA350483545ABCA12c.2258A>C (p.His753Pro)
c.1304A>C (p.His435Pro)
n.2502A>C
n.2700A>C
2g.215011514G>ACA350483548ABCA12c.2257C>T (p.His753Tyr)
c.1303C>T (p.His435Tyr)
n.2501C>T
n.2699C>T
2g.215011514G>CCA350483549ABCA12c.2257C>G (p.His753Asp)
c.1303C>G (p.His435Asp)
n.2501C>G
n.2699C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215011514G=CA1327174124ABCA12c.2257C= (p.His753=)
c.1303C= (p.His435=)
n.2501C=
n.2699C=
2g.215011514G>TCA350483550ABCA12c.2257C>A (p.His753Asn)
c.1303C>A (p.His435Asn)
n.2501C>A
n.2699C>A
 COSMIC
2g.215011515G>ACA2092003ABCA12c.2256C>T (p.Asn752=)
c.1302C>T (p.Asn434=)
n.2500C>T
n.2698C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215011515G>CCA350483551ABCA12c.2256C>G (p.Asn752Lys)
c.1302C>G (p.Asn434Lys)
n.2500C>G
n.2698C>G
2g.215011515G=CA1327174125ABCA12c.2256C= (p.Asn752=)
c.1302C= (p.Asn434=)
n.2500C=
n.2698C=
2g.215011515G>TCA350483552ABCA12c.2256C>A (p.Asn752Lys)
c.1302C>A (p.Asn434Lys)
n.2500C>A
n.2698C>A
 gnomAD v4
2g.215011516T>ACA350483553ABCA12c.2255A>T (p.Asn752Ile)
c.1301A>T (p.Asn434Ile)
n.2499A>T
n.2697A>T
2g.215011516T>CCA350483554ABCA12c.2255A>G (p.Asn752Ser)
c.1301A>G (p.Asn434Ser)
n.2499A>G
n.2697A>G
 gnomAD v4
2g.215011516T>GCA64844369ABCA12c.2255A>C (p.Asn752Thr)
c.1301A>C (p.Asn434Thr)
n.2499A>C
n.2697A>C
 dbSNP gnomAD v3 gnomAD v4
2g.215011516T=CA1327174126ABCA12c.2255A= (p.Asn752=)
c.1301A= (p.Asn434=)
n.2499A=
n.2697A=
2g.215011517T>ACA350483555ABCA12c.2254A>T (p.Asn752Tyr)
c.1300A>T (p.Asn434Tyr)
n.2498A>T
n.2696A>T
2g.215011517T>CCA350483556ABCA12c.2254A>G (p.Asn752Asp)
c.1300A>G (p.Asn434Asp)
n.2498A>G
n.2696A>G
2g.215011517T>GCA350483557ABCA12c.2254A>C (p.Asn752His)
c.1300A>C (p.Asn434His)
n.2498A>C
n.2696A>C
2g.215011518G>ACA431151450ABCA12c.2253C>T (p.Gly751=)
c.1299C>T (p.Gly433=)
n.2497C>T
n.2695C>T
2g.215011518G>CCA431151451ABCA12c.2253C>G (p.Gly751=)
c.1299C>G (p.Gly433=)
n.2497C>G
n.2695C>G
2g.215011518G>TCA431151452ABCA12c.2253C>A (p.Gly751=)
c.1299C>A (p.Gly433=)
n.2497C>A
n.2695C>A
2g.215011519C>ACA350483560ABCA12c.2252G>T (p.Gly751Val)
c.1298G>T (p.Gly433Val)
n.2496G>T
n.2694G>T
2g.215011519C=CA1327174127ABCA12c.2252G= (p.Gly751=)
c.1298G= (p.Gly433=)
n.2496G=
n.2694G=
2g.215011519C>GCA350483558ABCA12c.2252G>C (p.Gly751Ala)
c.1298G>C (p.Gly433Ala)
n.2496G>C
n.2694G>C
2g.215011519C>TCA350483559ABCA12c.2252G>A (p.Gly751Asp)
c.1298G>A (p.Gly433Asp)
n.2496G>A
n.2694G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215011519_215011520delinsACA2586971327ABCA12c.2251_2252delinsT (p.Gly751SerfsTer8)
c.1297_1298delinsT (p.Gly433SerfsTer8)
n.2495_2496delinsT
n.2693_2694delinsT
2g.215011520delCA2662980329ABCA12c.2252del (p.Gly751AlafsTer8)
c.1298del (p.Gly433AlafsTer8)
n.2496del
n.2694del
 gnomAD v4
2g.215011520C>ACA350483561ABCA12c.2251G>T (p.Gly751Cys)
c.1297G>T (p.Gly433Cys)
n.2495G>T
n.2693G>T
 gnomAD v4
2g.215011520C>GCA350483562ABCA12c.2251G>C (p.Gly751Arg)
c.1297G>C (p.Gly433Arg)
n.2495G>C
n.2693G>C
2g.215011520C>TCA350483563ABCA12c.2251G>A (p.Gly751Ser)
c.1297G>A (p.Gly433Ser)
n.2495G>A
n.2693G>A
2g.215011521T>ACA350483564ABCA12c.2250A>T (p.Lys750Asn)
c.1296A>T (p.Lys432Asn)
n.2494A>T
n.2692A>T
2g.215011521T>CCA431151453ABCA12c.2250A>G (p.Lys750=)
c.1296A>G (p.Lys432=)
n.2494A>G
n.2692A>G
2g.215011521T>GCA350483565ABCA12c.2250A>C (p.Lys750Asn)
c.1296A>C (p.Lys432Asn)
n.2494A>C
n.2692A>C
2g.215011522T>ACA350483566ABCA12c.2249A>T (p.Lys750Ile)
c.1295A>T (p.Lys432Ile)
n.2493A>T
n.2691A>T
2g.215011522T>CCA350483567ABCA12c.2249A>G (p.Lys750Arg)
c.1295A>G (p.Lys432Arg)
n.2493A>G
n.2691A>G
2g.215011522T>GCA350483568ABCA12c.2249A>C (p.Lys750Thr)
c.1295A>C (p.Lys432Thr)
n.2493A>C
n.2691A>C
2g.215011523T>ACA350483569ABCA12c.2248A>T (p.Lys750Ter)
c.1294A>T (p.Lys432Ter)
n.2492A>T
n.2690A>T
2g.215011523T>CCA350483570ABCA12c.2248A>G (p.Lys750Glu)
c.1294A>G (p.Lys432Glu)
n.2492A>G
n.2690A>G
 dbSNP
2g.215011523T>GCA350483571ABCA12c.2248A>C (p.Lys750Gln)
c.1294A>C (p.Lys432Gln)
n.2492A>C
n.2690A>C
2g.215011523T=CA1327174128ABCA12c.2248A= (p.Lys750=)
c.1294A= (p.Lys432=)
n.2492A=
n.2690A=
2g.215011524T>ACA431151454ABCA12c.2247A>T (p.Pro749=)
c.1293A>T (p.Pro431=)
n.2491A>T
n.2689A>T
2g.215011524T>CCA431151455ABCA12c.2247A>G (p.Pro749=)
c.1293A>G (p.Pro431=)
n.2491A>G
n.2689A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.215011524T>GCA431151456ABCA12c.2247A>C (p.Pro749=)
c.1293A>C (p.Pro431=)
n.2491A>C
n.2689A>C
2g.215011524T=CA1327174129ABCA12c.2247A= (p.Pro749=)
c.1293A= (p.Pro431=)
n.2491A=
n.2689A=
2g.215011525G>ACA350483573ABCA12c.2246C>T (p.Pro749Leu)
c.1292C>T (p.Pro431Leu)
n.2490C>T
n.2688C>T
2g.215011525G>CCA350483574ABCA12c.2246C>G (p.Pro749Arg)
c.1292C>G (p.Pro431Arg)
n.2490C>G
n.2688C>G
2g.215011525G>TCA350483572ABCA12c.2246C>A (p.Pro749Gln)
c.1292C>A (p.Pro431Gln)
n.2490C>A
n.2688C>A
2g.215011526G>ACA350483577ABCA12c.2245C>T (p.Pro749Ser)
c.1291C>T (p.Pro431Ser)
n.2489C>T
n.2687C>T
 gnomAD v4 COSMIC COSMIC
2g.215011526G>CCA350483575ABCA12c.2245C>G (p.Pro749Ala)
c.1291C>G (p.Pro431Ala)
n.2489C>G
n.2687C>G
2g.215011526G>TCA350483576ABCA12c.2245C>A (p.Pro749Thr)
c.1291C>A (p.Pro431Thr)
n.2489C>A
n.2687C>A
2g.215011527C>ACA350483578ABCA12c.2244G>T (p.Arg748Ser)
c.1290G>T (p.Arg430Ser)
n.2488G>T
n.2686G>T
2g.215011527C>GCA350483579ABCA12c.2244G>C (p.Arg748Ser)
c.1290G>C (p.Arg430Ser)
n.2488G>C
n.2686G>C
2g.215011527C>TCA431151457ABCA12c.2244G>A (p.Arg748=)
c.1290G>A (p.Arg430=)
n.2488G>A
n.2686G>A
2g.215011528C>ACA350483580ABCA12c.2243G>T (p.Arg748Met)
c.1289G>T (p.Arg430Met)
n.2487G>T
n.2685G>T
 dbSNP
2g.215011528C=CA1327174130ABCA12c.2243G= (p.Arg748=)
c.1289G= (p.Arg430=)
n.2487G=
n.2685G=
2g.215011528C>GCA350483581ABCA12c.2243G>C (p.Arg748Thr)
c.1289G>C (p.Arg430Thr)
n.2487G>C
n.2685G>C
2g.215011528C>TCA2092004ABCA12c.2243G>A (p.Arg748Lys)
c.1289G>A (p.Arg430Lys)
n.2487G>A
n.2685G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215011529T>ACA350483582ABCA12c.2242A>T (p.Arg748Trp)
c.1288A>T (p.Arg430Trp)
n.2486A>T
n.2684A>T
2g.215011529T>CCA350483583ABCA12c.2242A>G (p.Arg748Gly)
c.1288A>G (p.Arg430Gly)
n.2486A>G
n.2684A>G
2g.215011529T>GCA431151458ABCA12c.2242A>C (p.Arg748=)
c.1288A>C (p.Arg430=)
n.2486A>C
n.2684A>C
2g.215011530C>ACA350483584ABCA12c.2241G>T (p.Gln747His)
c.1287G>T (p.Gln429His)
n.2485G>T
n.2683G>T
2g.215011530C>GCA350483585ABCA12c.2241G>C (p.Gln747His)
c.1287G>C (p.Gln429His)
n.2485G>C
n.2683G>C
 gnomAD v4
2g.215011530C>TCA431151459ABCA12c.2241G>A (p.Gln747=)
c.1287G>A (p.Gln429=)
n.2485G>A
n.2683G>A
2g.215011531T>ACA350483586ABCA12c.2240A>T (p.Gln747Leu)
c.1286A>T (p.Gln429Leu)
n.2484A>T
n.2682A>T
2g.215011531T>CCA350483587ABCA12c.2240A>G (p.Gln747Arg)
c.1286A>G (p.Gln429Arg)
n.2484A>G
n.2682A>G
2g.215011531T>GCA350483588ABCA12c.2240A>C (p.Gln747Pro)
c.1286A>C (p.Gln429Pro)
n.2484A>C
n.2682A>C
2g.215011532G>ACA350483589ABCA12c.2239C>T (p.Gln747Ter)
c.1285C>T (p.Gln429Ter)
n.2483C>T
n.2681C>T
2g.215011532G>CCA350483591ABCA12c.2239C>G (p.Gln747Glu)
c.1285C>G (p.Gln429Glu)
n.2483C>G
n.2681C>G
2g.215011532G>TCA350483590ABCA12c.2239C>A (p.Gln747Lys)
c.1285C>A (p.Gln429Lys)
n.2483C>A
n.2681C>A
2g.215011533G>ACA431151460ABCA12c.2238C>T (p.Ser746=)
c.1284C>T (p.Ser428=)
n.2482C>T
n.2680C>T
2g.215011533G>CCA431151461ABCA12c.2238C>G (p.Ser746=)
c.1284C>G (p.Ser428=)
n.2482C>G
n.2680C>G
2g.215011533G>TCA431151462ABCA12c.2238C>A (p.Ser746=)
c.1284C>A (p.Ser428=)
n.2482C>A
n.2680C>A
2g.215011534G>ACA350483592ABCA12c.2237C>T (p.Ser746Phe)
c.1283C>T (p.Ser428Phe)
n.2481C>T
n.2679C>T
2g.215011534G>CCA350483593ABCA12c.2237C>G (p.Ser746Cys)
c.1283C>G (p.Ser428Cys)
n.2481C>G
n.2679C>G
2g.215011534G>TCA350483595ABCA12c.2237C>A (p.Ser746Tyr)
c.1283C>A (p.Ser428Tyr)
n.2481C>A
n.2679C>A
2g.215011534_215011535delinsGACA1327174131ABCA12c.2236_2237delinsTC (p.Ser746=)
c.1282_1283delinsTC (p.Ser428=)
n.2480_2481delinsTC
n.2678_2679delinsTC
2g.215011535A>CCA350483596ABCA12c.2236T>G (p.Ser746Ala)
c.1282T>G (p.Ser428Ala)
n.2480T>G
n.2678T>G
2g.215011535A>GCA350483597ABCA12c.2236T>C (p.Ser746Pro)
c.1282T>C (p.Ser428Pro)
n.2480T>C
n.2678T>C
2g.215011535A>TCA350483598ABCA12c.2236T>A (p.Ser746Thr)
c.1282T>A (p.Ser428Thr)
n.2480T>A
n.2678T>A
2g.215011536delCA2092005ABCA12c.2236del (p.Ser746ProfsTer13)
c.1282del (p.Ser428ProfsTer13)
n.2480del
n.2678del
 dbSNP ExAC gnomAD v2
2g.215011536A=CA1327174132ABCA12c.2235T= (p.Ser745=)
c.1281T= (p.Ser427=)
n.2479T=
n.2677T=
2g.215011536A>CCA431151463ABCA12c.2235T>G (p.Ser745=)
c.1281T>G (p.Ser427=)
n.2479T>G
n.2677T>G
2g.215011536A>GCA431151465ABCA12c.2235T>C (p.Ser745=)
c.1281T>C (p.Ser427=)
n.2479T>C
n.2677T>C
 dbSNP gnomAD v2
2g.215011536A>TCA431151464ABCA12c.2235T>A (p.Ser745=)
c.1281T>A (p.Ser427=)
n.2479T>A
n.2677T>A
2g.215011537G>ACA350483599ABCA12c.2234C>T (p.Ser745Phe)
c.1280C>T (p.Ser427Phe)
n.2478C>T
n.2676C>T
2g.215011537G>CCA350483600ABCA12c.2234C>G (p.Ser745Cys)
c.1280C>G (p.Ser427Cys)
n.2478C>G
n.2676C>G
2g.215011537G>TCA350483601ABCA12c.2234C>A (p.Ser745Tyr)
c.1280C>A (p.Ser427Tyr)
n.2478C>A
n.2676C>A
2g.215011538A>CCA350483604ABCA12c.2233T>G (p.Ser745Ala)
c.1279T>G (p.Ser427Ala)
n.2477T>G
n.2675T>G
2g.215011538A>GCA350483603ABCA12c.2233T>C (p.Ser745Pro)
c.1279T>C (p.Ser427Pro)
n.2477T>C
n.2675T>C
2g.215011538A>TCA350483602ABCA12c.2233T>A (p.Ser745Thr)
c.1279T>A (p.Ser427Thr)
n.2477T>A
n.2675T>A
2g.215011539G>ACA431151466ABCA12c.2232C>T (p.Pro744=)
c.1278C>T (p.Pro426=)
n.2476C>T
n.2674C>T
 gnomAD v4
2g.215011539G>CCA431151467ABCA12c.2232C>G (p.Pro744=)
c.1278C>G (p.Pro426=)
n.2476C>G
n.2674C>G
2g.215011539G>TCA431151468ABCA12c.2232C>A (p.Pro744=)
c.1278C>A (p.Pro426=)
n.2476C>A
n.2674C>A
2g.215011540G>ACA350483605ABCA12c.2231C>T (p.Pro744Leu)
c.1277C>T (p.Pro426Leu)
n.2475C>T
n.2673C>T
 dbSNP gnomAD v3 gnomAD v4
2g.215011540G>CCA350483606ABCA12c.2231C>G (p.Pro744Arg)
c.1277C>G (p.Pro426Arg)
n.2475C>G
n.2673C>G
2g.215011540G=CA1327174133ABCA12c.2231C= (p.Pro744=)
c.1277C= (p.Pro426=)
n.2475C=
n.2673C=
2g.215011540G>TCA350483607ABCA12c.2231C>A (p.Pro744His)
c.1277C>A (p.Pro426His)
n.2475C>A
n.2673C>A
2g.215011545_215011552delCA645516078ABCA12c.2224_2231del (p.Met742LeufsTer17)
c.1270_1277del (p.Met424LeufsTer17)
n.2468_2475del
n.2666_2673del
 COSMIC COSMIC
2g.215011541G>ACA2092006ABCA12c.2230C>T (p.Pro744Ser)
c.1276C>T (p.Pro426Ser)
n.2474C>T
n.2672C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.215011541G>CCA350483608ABCA12c.2230C>G (p.Pro744Ala)
c.1276C>G (p.Pro426Ala)
n.2474C>G
n.2672C>G
 gnomAD v4
2g.215011541G=CA1327174134ABCA12c.2230C= (p.Pro744=)
c.1276C= (p.Pro426=)
n.2474C=
n.2672C=
2g.215011541G>TCA350483609ABCA12c.2230C>A (p.Pro744Thr)
c.1276C>A (p.Pro426Thr)
n.2474C>A
n.2672C>A
2g.215011542C>ACA431151469ABCA12c.2229G>T (p.Leu743=)
c.1275G>T (p.Leu425=)
n.2473G>T
n.2671G>T
2g.215011542C>GCA431151470ABCA12c.2229G>C (p.Leu743=)
c.1275G>C (p.Leu425=)
n.2473G>C
n.2671G>C
2g.215011542C>TCA431151471ABCA12c.2229G>A (p.Leu743=)
c.1275G>A (p.Leu425=)
n.2473G>A
n.2671G>A
2g.215011543A>CCA350483612ABCA12c.2228T>G (p.Leu743Arg)
c.1274T>G (p.Leu425Arg)
n.2472T>G
n.2670T>G
2g.215011543A>GCA350483610ABCA12c.2228T>C (p.Leu743Pro)
c.1274T>C (p.Leu425Pro)
n.2472T>C
n.2670T>C
 gnomAD v4
2g.215011543A>TCA350483611ABCA12c.2228T>A (p.Leu743Gln)
c.1274T>A (p.Leu425Gln)
n.2472T>A
n.2670T>A
2g.215011544G>ACA431151472ABCA12c.2227C>T (p.Leu743=)
c.1273C>T (p.Leu425=)
n.2471C>T
n.2669C>T
2g.215011544G>CCA350483613ABCA12c.2227C>G (p.Leu743Val)
c.1273C>G (p.Leu425Val)
n.2471C>G
n.2669C>G
2g.215011544G>TCA350483614ABCA12c.2227C>A (p.Leu743Met)
c.1273C>A (p.Leu425Met)
n.2471C>A
n.2669C>A
2g.215011545C>ACA2092007ABCA12c.2226G>T (p.Met742Ile)
c.1272G>T (p.Met424Ile)
n.2470G>T
n.2668G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011545C=CA1327174135ABCA12c.2226G= (p.Met742=)
c.1272G= (p.Met424=)
n.2470G=
n.2668G=
2g.215011545C>GCA350483615ABCA12c.2226G>C (p.Met742Ile)
c.1272G>C (p.Met424Ile)
n.2470G>C
n.2668G>C
2g.215011545C>TCA350483616ABCA12c.2226G>A (p.Met742Ile)
c.1272G>A (p.Met424Ile)
n.2470G>A
n.2668G>A
 COSMIC COSMIC
2g.215011546A=CA1327174136ABCA12c.2225T= (p.Met742=)
c.1271T= (p.Met424=)
n.2469T=
n.2667T=
2g.215011546A>CCA350483617ABCA12c.2225T>G (p.Met742Arg)
c.1271T>G (p.Met424Arg)
n.2469T>G
n.2667T>G
 dbSNP gnomAD v4
2g.215011546A>GCA2092008ABCA12c.2225T>C (p.Met742Thr)
c.1271T>C (p.Met424Thr)
n.2469T>C
n.2667T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011546A>TCA350483618ABCA12c.2225T>A (p.Met742Lys)
c.1271T>A (p.Met424Lys)
n.2469T>A
n.2667T>A
2g.215011547T>ACA350483619ABCA12c.2224A>T (p.Met742Leu)
c.1270A>T (p.Met424Leu)
n.2468A>T
n.2666A>T
2g.215011547T>CCA350483620ABCA12c.2224A>G (p.Met742Val)
c.1270A>G (p.Met424Val)
n.2468A>G
n.2666A>G
2g.215011547T>GCA350483621ABCA12c.2224A>C (p.Met742Leu)
c.1270A>C (p.Met424Leu)
n.2468A>C
n.2666A>C
2g.215011548G>ACA431151473ABCA12c.2223C>T (p.Ala741=)
c.1269C>T (p.Ala423=)
n.2467C>T
n.2665C>T
 dbSNP gnomAD v4
2g.215011548G>CCA431151474ABCA12c.2223C>G (p.Ala741=)
c.1269C>G (p.Ala423=)
n.2467C>G
n.2665C>G
2g.215011548G=CA1327174137ABCA12c.2223C= (p.Ala741=)
c.1269C= (p.Ala423=)
n.2467C=
n.2665C=
2g.215011548G>TCA431151475ABCA12c.2223C>A (p.Ala741=)
c.1269C>A (p.Ala423=)
n.2467C>A
n.2665C>A
2g.215011549G>ACA350483622ABCA12c.2222C>T (p.Ala741Val)
c.1268C>T (p.Ala423Val)
n.2466C>T
n.2664C>T
 gnomAD v4 COSMIC COSMIC
2g.215011549G>CCA350483623ABCA12c.2222C>G (p.Ala741Gly)
c.1268C>G (p.Ala423Gly)
n.2466C>G
n.2664C>G
2g.215011549G>TCA350483624ABCA12c.2222C>A (p.Ala741Asp)
c.1268C>A (p.Ala423Asp)
n.2466C>A
n.2664C>A
2g.215011550C>ACA350483625ABCA12c.2221G>T (p.Ala741Ser)
c.1267G>T (p.Ala423Ser)
n.2465G>T
n.2663G>T
 dbSNP
2g.215011550C>GCA350483626ABCA12c.2221G>C (p.Ala741Pro)
c.1267G>C (p.Ala423Pro)
n.2465G>C
n.2663G>C
2g.215011550C>TCA350483627ABCA12c.2221G>A (p.Ala741Thr)
c.1267G>A (p.Ala423Thr)
n.2465G>A
n.2663G>A
2g.215011551A=CA1327174138ABCA12c.2220T= (p.Thr740=)
c.1266T= (p.Thr422=)
n.2464T=
n.2662T=
2g.215011551A>CCA431151476ABCA12c.2220T>G (p.Thr740=)
c.1266T>G (p.Thr422=)
n.2464T>G
n.2662T>G
2g.215011551A>GCA431151478ABCA12c.2220T>C (p.Thr740=)
c.1266T>C (p.Thr422=)
n.2464T>C
n.2662T>C
2g.215011551A>TCA431151477ABCA12c.2220T>A (p.Thr740=)
c.1266T>A (p.Thr422=)
n.2464T>A
n.2662T>A
 dbSNP gnomAD v2 gnomAD v4
2g.215011552G>ACA350483628ABCA12c.2219C>T (p.Thr740Ile)
c.1265C>T (p.Thr422Ile)
n.2463C>T
n.2661C>T
 gnomAD v4
2g.215011552G>CCA350483629ABCA12c.2219C>G (p.Thr740Ser)
c.1265C>G (p.Thr422Ser)
n.2463C>G
n.2661C>G
 gnomAD v4
2g.215011552G>TCA350483630ABCA12c.2219C>A (p.Thr740Asn)
c.1265C>A (p.Thr422Asn)
n.2463C>A
n.2661C>A
2g.215011553T>ACA350483632ABCA12c.2218A>T (p.Thr740Ser)
c.1264A>T (p.Thr422Ser)
n.2462A>T
n.2660A>T
2g.215011553T>CCA350483633ABCA12c.2218A>G (p.Thr740Ala)
c.1264A>G (p.Thr422Ala)
n.2462A>G
n.2660A>G
2g.215011553T>GCA350483631ABCA12c.2218A>C (p.Thr740Pro)
c.1264A>C (p.Thr422Pro)
n.2462A>C
n.2660A>C
 gnomAD v4
2g.215011554T>ACA350483635ABCA12c.2217A>T (p.Leu739Phe)
c.1263A>T (p.Leu421Phe)
n.2461A>T
n.2659A>T
2g.215011554T>CCA431151479ABCA12c.2217A>G (p.Leu739=)
c.1263A>G (p.Leu421=)
n.2461A>G
n.2659A>G
 gnomAD v4
2g.215011554T>GCA350483634ABCA12c.2217A>C (p.Leu739Phe)
c.1263A>C (p.Leu421Phe)
n.2461A>C
n.2659A>C

Number of alleles fetched