Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.19972935_19972936dupCA2655342620ARVCFc.2543_2544dup (p.Phe849AlafsTer16)
c.2354_2355dup (p.Phe786AlafsTer16)
c.2525_2526dup (p.Phe843AlafsTer16)
c.2336_2337dup (p.Phe780AlafsTer16)
n.1465_1466dup
c.2297_2298dup (p.Phe767AlafsTer16)
c.2510_2511dup (p.Phe838AlafsTer16)
c.1109_1110dup (p.Phe371AlafsTer16)
c.1091_1092dup (p.Phe365AlafsTer16)
n.2630_2631dup
 gnomAD v4
22g.19972932C>ACA410694548ARVCFc.2543G>T (p.Arg848Leu)
c.2354G>T (p.Arg785Leu)
c.2525G>T (p.Arg842Leu)
c.2336G>T (p.Arg779Leu)
n.1465G>T
c.2297G>T (p.Arg766Leu)
c.2510G>T (p.Arg837Leu)
c.1109G>T (p.Arg370Leu)
c.1091G>T (p.Arg364Leu)
n.2630G>T
 gnomAD v4
22g.19972932C=CA2396130897ARVCFc.2543G= (p.Arg848=)
c.2354G= (p.Arg785=)
c.2525G= (p.Arg842=)
c.2336G= (p.Arg779=)
n.1465G=
c.2297G= (p.Arg766=)
c.2510G= (p.Arg837=)
c.1109G= (p.Arg370=)
c.1091G= (p.Arg364=)
n.2630G=
22g.19972932C>GCA10105066ARVCFc.2543G>C (p.Arg848Pro)
c.2354G>C (p.Arg785Pro)
c.2525G>C (p.Arg842Pro)
c.2336G>C (p.Arg779Pro)
n.1465G>C
c.2297G>C (p.Arg766Pro)
c.2510G>C (p.Arg837Pro)
c.1109G>C (p.Arg370Pro)
c.1091G>C (p.Arg364Pro)
n.2630G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972932C>TCA10105067ARVCFc.2543G>A (p.Arg848His)
c.2354G>A (p.Arg785His)
c.2525G>A (p.Arg842His)
c.2336G>A (p.Arg779His)
n.1465G>A
c.2297G>A (p.Arg766His)
c.2510G>A (p.Arg837His)
c.1109G>A (p.Arg370His)
c.1091G>A (p.Arg364His)
n.2630G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.19972933G>ACA410694554ARVCFc.2542C>T (p.Arg848Cys)
c.2353C>T (p.Arg785Cys)
c.2524C>T (p.Arg842Cys)
c.2335C>T (p.Arg779Cys)
n.1464C>T
c.2296C>T (p.Arg766Cys)
c.2509C>T (p.Arg837Cys)
c.1108C>T (p.Arg370Cys)
c.1090C>T (p.Arg364Cys)
n.2629C>T
 dbSNP gnomAD v3 gnomAD v4
22g.19972933G>CCA410694553ARVCFc.2542C>G (p.Arg848Gly)
c.2353C>G (p.Arg785Gly)
c.2524C>G (p.Arg842Gly)
c.2335C>G (p.Arg779Gly)
n.1464C>G
c.2296C>G (p.Arg766Gly)
c.2509C>G (p.Arg837Gly)
c.1108C>G (p.Arg370Gly)
c.1090C>G (p.Arg364Gly)
n.2629C>G
22g.19972933G=CA2396130898ARVCFc.2542C= (p.Arg848=)
c.2353C= (p.Arg785=)
c.2524C= (p.Arg842=)
c.2335C= (p.Arg779=)
n.1464C=
c.2296C= (p.Arg766=)
c.2509C= (p.Arg837=)
c.1108C= (p.Arg370=)
c.1090C= (p.Arg364=)
n.2629C=
22g.19972933G>TCA410694551ARVCFc.2542C>A (p.Arg848Ser)
c.2353C>A (p.Arg785Ser)
c.2524C>A (p.Arg842Ser)
c.2335C>A (p.Arg779Ser)
n.1464C>A
c.2296C>A (p.Arg766Ser)
c.2509C>A (p.Arg837Ser)
c.1108C>A (p.Arg370Ser)
c.1090C>A (p.Arg364Ser)
n.2629C>A
22g.19972934C>ACA513688802ARVCFc.2541G>T (p.Ala847=)
c.2352G>T (p.Ala784=)
c.2523G>T (p.Ala841=)
c.2334G>T (p.Ala778=)
n.1463G>T
c.2295G>T (p.Ala765=)
c.2508G>T (p.Ala836=)
c.1107G>T (p.Ala369=)
c.1089G>T (p.Ala363=)
n.2628G>T
 dbSNP gnomAD v4
22g.19972934C=CA2396130899ARVCFc.2541G= (p.Ala847=)
c.2352G= (p.Ala784=)
c.2523G= (p.Ala841=)
c.2334G= (p.Ala778=)
n.1463G=
c.2295G= (p.Ala765=)
c.2508G= (p.Ala836=)
c.1107G= (p.Ala369=)
c.1089G= (p.Ala363=)
n.2628G=
22g.19972934C>GCA513688804ARVCFc.2541G>C (p.Ala847=)
c.2352G>C (p.Ala784=)
c.2523G>C (p.Ala841=)
c.2334G>C (p.Ala778=)
n.1463G>C
c.2295G>C (p.Ala765=)
c.2508G>C (p.Ala836=)
c.1107G>C (p.Ala369=)
c.1089G>C (p.Ala363=)
n.2628G>C
22g.19972934C>TCA513688806ARVCFc.2541G>A (p.Ala847=)
c.2352G>A (p.Ala784=)
c.2523G>A (p.Ala841=)
c.2334G>A (p.Ala778=)
n.1463G>A
c.2295G>A (p.Ala765=)
c.2508G>A (p.Ala836=)
c.1107G>A (p.Ala369=)
c.1089G>A (p.Ala363=)
n.2628G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
22g.19972935G>ACA10105069ARVCFc.2540C>T (p.Ala847Val)
c.2351C>T (p.Ala784Val)
c.2522C>T (p.Ala841Val)
c.2333C>T (p.Ala778Val)
n.1462C>T
c.2294C>T (p.Ala765Val)
c.2507C>T (p.Ala836Val)
c.1106C>T (p.Ala369Val)
c.1088C>T (p.Ala363Val)
n.2627C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972935G>CCA410694556ARVCFc.2540C>G (p.Ala847Gly)
c.2351C>G (p.Ala784Gly)
c.2522C>G (p.Ala841Gly)
c.2333C>G (p.Ala778Gly)
n.1462C>G
c.2294C>G (p.Ala765Gly)
c.2507C>G (p.Ala836Gly)
c.1106C>G (p.Ala369Gly)
c.1088C>G (p.Ala363Gly)
n.2627C>G
22g.19972935G=CA2396130900ARVCFc.2540C= (p.Ala847=)
c.2351C= (p.Ala784=)
c.2522C= (p.Ala841=)
c.2333C= (p.Ala778=)
n.1462C=
c.2294C= (p.Ala765=)
c.2507C= (p.Ala836=)
c.1106C= (p.Ala369=)
c.1088C= (p.Ala363=)
n.2627C=
22g.19972935G>TCA10105068ARVCFc.2540C>A (p.Ala847Glu)
c.2351C>A (p.Ala784Glu)
c.2522C>A (p.Ala841Glu)
c.2333C>A (p.Ala778Glu)
n.1462C>A
c.2294C>A (p.Ala765Glu)
c.2507C>A (p.Ala836Glu)
c.1106C>A (p.Ala369Glu)
c.1088C>A (p.Ala363Glu)
n.2627C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972936C>ACA410694559ARVCFc.2539G>T (p.Ala847Ser)
c.2350G>T (p.Ala784Ser)
c.2521G>T (p.Ala841Ser)
c.2332G>T (p.Ala778Ser)
n.1461G>T
c.2293G>T (p.Ala765Ser)
c.2506G>T (p.Ala836Ser)
c.1105G>T (p.Ala369Ser)
c.1087G>T (p.Ala363Ser)
n.2626G>T
22g.19972936C>GCA410694561ARVCFc.2539G>C (p.Ala847Pro)
c.2350G>C (p.Ala784Pro)
c.2521G>C (p.Ala841Pro)
c.2332G>C (p.Ala778Pro)
n.1461G>C
c.2293G>C (p.Ala765Pro)
c.2506G>C (p.Ala836Pro)
c.1105G>C (p.Ala369Pro)
c.1087G>C (p.Ala363Pro)
n.2626G>C
22g.19972936C>TCA410694562ARVCFc.2539G>A (p.Ala847Thr)
c.2350G>A (p.Ala784Thr)
c.2521G>A (p.Ala841Thr)
c.2332G>A (p.Ala778Thr)
n.1461G>A
c.2293G>A (p.Ala765Thr)
c.2506G>A (p.Ala836Thr)
c.1105G>A (p.Ala369Thr)
c.1087G>A (p.Ala363Thr)
n.2626G>A
 gnomAD v4
22g.19972937C>ACA410694564ARVCFc.2538G>T (p.Lys846Asn)
c.2349G>T (p.Lys783Asn)
c.2520G>T (p.Lys840Asn)
c.2331G>T (p.Lys777Asn)
n.1460G>T
c.2292G>T (p.Lys764Asn)
c.2505G>T (p.Lys835Asn)
c.1104G>T (p.Lys368Asn)
c.1086G>T (p.Lys362Asn)
n.2625G>T
22g.19972937C>GCA410694563ARVCFc.2538G>C (p.Lys846Asn)
c.2349G>C (p.Lys783Asn)
c.2520G>C (p.Lys840Asn)
c.2331G>C (p.Lys777Asn)
n.1460G>C
c.2292G>C (p.Lys764Asn)
c.2505G>C (p.Lys835Asn)
c.1104G>C (p.Lys368Asn)
c.1086G>C (p.Lys362Asn)
n.2625G>C
22g.19972937C>TCA513688828ARVCFc.2538G>A (p.Lys846=)
c.2349G>A (p.Lys783=)
c.2520G>A (p.Lys840=)
c.2331G>A (p.Lys777=)
n.1460G>A
c.2292G>A (p.Lys764=)
c.2505G>A (p.Lys835=)
c.1104G>A (p.Lys368=)
c.1086G>A (p.Lys362=)
n.2625G>A
22g.19972938T>ACA410694567ARVCFc.2537A>T (p.Lys846Met)
c.2348A>T (p.Lys783Met)
c.2519A>T (p.Lys840Met)
c.2330A>T (p.Lys777Met)
n.1459A>T
c.2291A>T (p.Lys764Met)
c.2504A>T (p.Lys835Met)
c.1103A>T (p.Lys368Met)
c.1085A>T (p.Lys362Met)
n.2624A>T
22g.19972938T>CCA410694568ARVCFc.2537A>G (p.Lys846Arg)
c.2348A>G (p.Lys783Arg)
c.2519A>G (p.Lys840Arg)
c.2330A>G (p.Lys777Arg)
n.1459A>G
c.2291A>G (p.Lys764Arg)
c.2504A>G (p.Lys835Arg)
c.1103A>G (p.Lys368Arg)
c.1085A>G (p.Lys362Arg)
n.2624A>G
 gnomAD v4
22g.19972938T>GCA410694570ARVCFc.2537A>C (p.Lys846Thr)
c.2348A>C (p.Lys783Thr)
c.2519A>C (p.Lys840Thr)
c.2330A>C (p.Lys777Thr)
n.1459A>C
c.2291A>C (p.Lys764Thr)
c.2504A>C (p.Lys835Thr)
c.1103A>C (p.Lys368Thr)
c.1085A>C (p.Lys362Thr)
n.2624A>C
 dbSNP gnomAD v3 gnomAD v4
22g.19972939T>ACA410694571ARVCFc.2536A>T (p.Lys846Ter)
c.2347A>T (p.Lys783Ter)
c.2518A>T (p.Lys840Ter)
c.2329A>T (p.Lys777Ter)
n.1458A>T
c.2290A>T (p.Lys764Ter)
c.2503A>T (p.Lys835Ter)
c.1102A>T (p.Lys368Ter)
c.1084A>T (p.Lys362Ter)
n.2623A>T
22g.19972939T>CCA410694573ARVCFc.2536A>G (p.Lys846Glu)
c.2347A>G (p.Lys783Glu)
c.2518A>G (p.Lys840Glu)
c.2329A>G (p.Lys777Glu)
n.1458A>G
c.2290A>G (p.Lys764Glu)
c.2503A>G (p.Lys835Glu)
c.1102A>G (p.Lys368Glu)
c.1084A>G (p.Lys362Glu)
n.2623A>G
 dbSNP gnomAD v4
22g.19972939T>GCA410694575ARVCFc.2536A>C (p.Lys846Gln)
c.2347A>C (p.Lys783Gln)
c.2518A>C (p.Lys840Gln)
c.2329A>C (p.Lys777Gln)
n.1458A>C
c.2290A>C (p.Lys764Gln)
c.2503A>C (p.Lys835Gln)
c.1102A>C (p.Lys368Gln)
c.1084A>C (p.Lys362Gln)
n.2623A>C
22g.19972939T=CA2396130901ARVCFc.2536A= (p.Lys846=)
c.2347A= (p.Lys783=)
c.2518A= (p.Lys840=)
c.2329A= (p.Lys777=)
n.1458A=
c.2290A= (p.Lys764=)
c.2503A= (p.Lys835=)
c.1102A= (p.Lys368=)
c.1084A= (p.Lys362=)
n.2623A=
22g.19972940G>ACA513688851ARVCFc.2535C>T (p.Thr845=)
c.2346C>T (p.Thr782=)
c.2517C>T (p.Thr839=)
c.2328C>T (p.Thr776=)
n.1457C>T
c.2289C>T (p.Thr763=)
c.2502C>T (p.Thr834=)
c.1101C>T (p.Thr367=)
c.1083C>T (p.Thr361=)
n.2622C>T
 dbSNP gnomAD v2 gnomAD v4
22g.19972940G>CCA513688846ARVCFc.2535C>G (p.Thr845=)
c.2346C>G (p.Thr782=)
c.2517C>G (p.Thr839=)
c.2328C>G (p.Thr776=)
n.1457C>G
c.2289C>G (p.Thr763=)
c.2502C>G (p.Thr834=)
c.1101C>G (p.Thr367=)
c.1083C>G (p.Thr361=)
n.2622C>G
 dbSNP gnomAD v4
22g.19972940G=CA2396130902ARVCFc.2535C= (p.Thr845=)
c.2346C= (p.Thr782=)
c.2517C= (p.Thr839=)
c.2328C= (p.Thr776=)
n.1457C=
c.2289C= (p.Thr763=)
c.2502C= (p.Thr834=)
c.1101C= (p.Thr367=)
c.1083C= (p.Thr361=)
n.2622C=
22g.19972940G>TCA513688848ARVCFc.2535C>A (p.Thr845=)
c.2346C>A (p.Thr782=)
c.2517C>A (p.Thr839=)
c.2328C>A (p.Thr776=)
n.1457C>A
c.2289C>A (p.Thr763=)
c.2502C>A (p.Thr834=)
c.1101C>A (p.Thr367=)
c.1083C>A (p.Thr361=)
n.2622C>A
22g.19972941G>ACA10105070ARVCFc.2534C>T (p.Thr845Ile)
c.2345C>T (p.Thr782Ile)
c.2516C>T (p.Thr839Ile)
c.2327C>T (p.Thr776Ile)
n.1456C>T
c.2288C>T (p.Thr763Ile)
c.2501C>T (p.Thr834Ile)
c.1100C>T (p.Thr367Ile)
c.1082C>T (p.Thr361Ile)
n.2621C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972941G>CCA410694577ARVCFc.2534C>G (p.Thr845Ser)
c.2345C>G (p.Thr782Ser)
c.2516C>G (p.Thr839Ser)
c.2327C>G (p.Thr776Ser)
n.1456C>G
c.2288C>G (p.Thr763Ser)
c.2501C>G (p.Thr834Ser)
c.1100C>G (p.Thr367Ser)
c.1082C>G (p.Thr361Ser)
n.2621C>G
22g.19972941G=CA2396130903ARVCFc.2534C= (p.Thr845=)
c.2345C= (p.Thr782=)
c.2516C= (p.Thr839=)
c.2327C= (p.Thr776=)
n.1456C=
c.2288C= (p.Thr763=)
c.2501C= (p.Thr834=)
c.1100C= (p.Thr367=)
c.1082C= (p.Thr361=)
n.2621C=
22g.19972941G>TCA410694578ARVCFc.2534C>A (p.Thr845Asn)
c.2345C>A (p.Thr782Asn)
c.2516C>A (p.Thr839Asn)
c.2327C>A (p.Thr776Asn)
n.1456C>A
c.2288C>A (p.Thr763Asn)
c.2501C>A (p.Thr834Asn)
c.1100C>A (p.Thr367Asn)
c.1082C>A (p.Thr361Asn)
n.2621C>A
22g.19972942T>ACA10105071ARVCFc.2533A>T (p.Thr845Ser)
c.2344A>T (p.Thr782Ser)
c.2515A>T (p.Thr839Ser)
c.2326A>T (p.Thr776Ser)
n.1455A>T
c.2287A>T (p.Thr763Ser)
c.2500A>T (p.Thr834Ser)
c.1099A>T (p.Thr367Ser)
c.1081A>T (p.Thr361Ser)
n.2620A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972942T>CCA410694580ARVCFc.2533A>G (p.Thr845Ala)
c.2344A>G (p.Thr782Ala)
c.2515A>G (p.Thr839Ala)
c.2326A>G (p.Thr776Ala)
n.1455A>G
c.2287A>G (p.Thr763Ala)
c.2500A>G (p.Thr834Ala)
c.1099A>G (p.Thr367Ala)
c.1081A>G (p.Thr361Ala)
n.2620A>G
22g.19972942T>GCA410694581ARVCFc.2533A>C (p.Thr845Pro)
c.2344A>C (p.Thr782Pro)
c.2515A>C (p.Thr839Pro)
c.2326A>C (p.Thr776Pro)
n.1455A>C
c.2287A>C (p.Thr763Pro)
c.2500A>C (p.Thr834Pro)
c.1099A>C (p.Thr367Pro)
c.1081A>C (p.Thr361Pro)
n.2620A>C
22g.19972942T=CA2396130904ARVCFc.2533A= (p.Thr845=)
c.2344A= (p.Thr782=)
c.2515A= (p.Thr839=)
c.2326A= (p.Thr776=)
n.1455A=
c.2287A= (p.Thr763=)
c.2500A= (p.Thr834=)
c.1099A= (p.Thr367=)
c.1081A= (p.Thr361=)
n.2620A=
22g.19972943C>ACA410694583ARVCFc.2532G>T (p.Trp844Cys)
c.2343G>T (p.Trp781Cys)
c.2514G>T (p.Trp838Cys)
c.2325G>T (p.Trp775Cys)
n.1454G>T
c.2286G>T (p.Trp762Cys)
c.2499G>T (p.Trp833Cys)
c.1098G>T (p.Trp366Cys)
c.1080G>T (p.Trp360Cys)
n.2619G>T
22g.19972943C=CA2396130905ARVCFc.2532G= (p.Trp844=)
c.2343G= (p.Trp781=)
c.2514G= (p.Trp838=)
c.2325G= (p.Trp775=)
n.1454G=
c.2286G= (p.Trp762=)
c.2499G= (p.Trp833=)
c.1098G= (p.Trp366=)
c.1080G= (p.Trp360=)
n.2619G=
22g.19972943C>GCA10105072ARVCFc.2532G>C (p.Trp844Cys)
c.2343G>C (p.Trp781Cys)
c.2514G>C (p.Trp838Cys)
c.2325G>C (p.Trp775Cys)
n.1454G>C
c.2286G>C (p.Trp762Cys)
c.2499G>C (p.Trp833Cys)
c.1098G>C (p.Trp366Cys)
c.1080G>C (p.Trp360Cys)
n.2619G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972943C>TCA410694585ARVCFc.2532G>A (p.Trp844Ter)
c.2343G>A (p.Trp781Ter)
c.2514G>A (p.Trp838Ter)
c.2325G>A (p.Trp775Ter)
n.1454G>A
c.2286G>A (p.Trp762Ter)
c.2499G>A (p.Trp833Ter)
c.1098G>A (p.Trp366Ter)
c.1080G>A (p.Trp360Ter)
n.2619G>A
22g.19972946_19972949delCA2818402554ARVCFc.2529_2532del (p.Trp844ProfsTer19)
c.2340_2343del (p.Trp781ProfsTer19)
c.2511_2514del (p.Trp838ProfsTer19)
c.2322_2325del (p.Trp775ProfsTer19)
n.1451_1454del
c.2283_2286del (p.Trp762ProfsTer19)
c.2496_2499del (p.Trp833ProfsTer19)
c.1095_1098del (p.Trp366ProfsTer19)
c.1077_1080del (p.Trp360ProfsTer19)
n.2616_2619del
22g.19972944C>ACA410694588ARVCFc.2531G>T (p.Trp844Leu)
c.2342G>T (p.Trp781Leu)
c.2513G>T (p.Trp838Leu)
c.2324G>T (p.Trp775Leu)
n.1453G>T
c.2285G>T (p.Trp762Leu)
c.2498G>T (p.Trp833Leu)
c.1097G>T (p.Trp366Leu)
c.1079G>T (p.Trp360Leu)
n.2618G>T
22g.19972944C>GCA410694589ARVCFc.2531G>C (p.Trp844Ser)
c.2342G>C (p.Trp781Ser)
c.2513G>C (p.Trp838Ser)
c.2324G>C (p.Trp775Ser)
n.1453G>C
c.2285G>C (p.Trp762Ser)
c.2498G>C (p.Trp833Ser)
c.1097G>C (p.Trp366Ser)
c.1079G>C (p.Trp360Ser)
n.2618G>C
22g.19972944C>TCA410694591ARVCFc.2531G>A (p.Trp844Ter)
c.2342G>A (p.Trp781Ter)
c.2513G>A (p.Trp838Ter)
c.2324G>A (p.Trp775Ter)
n.1453G>A
c.2285G>A (p.Trp762Ter)
c.2498G>A (p.Trp833Ter)
c.1097G>A (p.Trp366Ter)
c.1079G>A (p.Trp360Ter)
n.2618G>A
22g.19972945A>CCA410694593ARVCFc.2530T>G (p.Trp844Gly)
c.2341T>G (p.Trp781Gly)
c.2512T>G (p.Trp838Gly)
c.2323T>G (p.Trp775Gly)
n.1452T>G
c.2284T>G (p.Trp762Gly)
c.2497T>G (p.Trp833Gly)
c.1096T>G (p.Trp366Gly)
c.1078T>G (p.Trp360Gly)
n.2617T>G
22g.19972945A>GCA410694594ARVCFc.2530T>C (p.Trp844Arg)
c.2341T>C (p.Trp781Arg)
c.2512T>C (p.Trp838Arg)
c.2323T>C (p.Trp775Arg)
n.1452T>C
c.2284T>C (p.Trp762Arg)
c.2497T>C (p.Trp833Arg)
c.1096T>C (p.Trp366Arg)
c.1078T>C (p.Trp360Arg)
n.2617T>C
22g.19972945A>TCA410694595ARVCFc.2530T>A (p.Trp844Arg)
c.2341T>A (p.Trp781Arg)
c.2512T>A (p.Trp838Arg)
c.2323T>A (p.Trp775Arg)
n.1452T>A
c.2284T>A (p.Trp762Arg)
c.2497T>A (p.Trp833Arg)
c.1096T>A (p.Trp366Arg)
c.1078T>A (p.Trp360Arg)
n.2617T>A
22g.19972946A=CA2396130906ARVCFc.2529T= (p.Gly843=)
c.2340T= (p.Gly780=)
c.2511T= (p.Gly837=)
c.2322T= (p.Gly774=)
n.1451T=
c.2283T= (p.Gly761=)
c.2496T= (p.Gly832=)
c.1095T= (p.Gly365=)
c.1077T= (p.Gly359=)
n.2616T=
22g.19972946A>CCA513688870ARVCFc.2529T>G (p.Gly843=)
c.2340T>G (p.Gly780=)
c.2511T>G (p.Gly837=)
c.2322T>G (p.Gly774=)
n.1451T>G
c.2283T>G (p.Gly761=)
c.2496T>G (p.Gly832=)
c.1095T>G (p.Gly365=)
c.1077T>G (p.Gly359=)
n.2616T>G
22g.19972946A>GCA10105073ARVCFc.2529T>C (p.Gly843=)
c.2340T>C (p.Gly780=)
c.2511T>C (p.Gly837=)
c.2322T>C (p.Gly774=)
n.1451T>C
c.2283T>C (p.Gly761=)
c.2496T>C (p.Gly832=)
c.1095T>C (p.Gly365=)
c.1077T>C (p.Gly359=)
n.2616T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972946A>TCA513688873ARVCFc.2529T>A (p.Gly843=)
c.2340T>A (p.Gly780=)
c.2511T>A (p.Gly837=)
c.2322T>A (p.Gly774=)
n.1451T>A
c.2283T>A (p.Gly761=)
c.2496T>A (p.Gly832=)
c.1095T>A (p.Gly365=)
c.1077T>A (p.Gly359=)
n.2616T>A
22g.19972950_19972967delCA2655342621ARVCFc.2512_2529del (p.Thr838_Gly843del)
c.2323_2340del (p.Thr775_Gly780del)
c.2494_2511del (p.Thr832_Gly837del)
c.2305_2322del (p.Thr769_Gly774del)
n.1434_1451del
c.2266_2283del (p.Thr756_Gly761del)
c.2479_2496del (p.Thr827_Gly832del)
c.1078_1095del (p.Thr360_Gly365del)
c.1060_1077del (p.Thr354_Gly359del)
n.2599_2616del
 gnomAD v4
22g.19972947C>ACA410694597ARVCFc.2528G>T (p.Gly843Val)
c.2339G>T (p.Gly780Val)
c.2510G>T (p.Gly837Val)
c.2321G>T (p.Gly774Val)
n.1450G>T
c.2282G>T (p.Gly761Val)
c.2495G>T (p.Gly832Val)
c.1094G>T (p.Gly365Val)
c.1076G>T (p.Gly359Val)
n.2615G>T
22g.19972947C=CA2396130907ARVCFc.2528G= (p.Gly843=)
c.2339G= (p.Gly780=)
c.2510G= (p.Gly837=)
c.2321G= (p.Gly774=)
n.1450G=
c.2282G= (p.Gly761=)
c.2495G= (p.Gly832=)
c.1094G= (p.Gly365=)
c.1076G= (p.Gly359=)
n.2615G=
22g.19972947C>GCA410694600ARVCFc.2528G>C (p.Gly843Ala)
c.2339G>C (p.Gly780Ala)
c.2510G>C (p.Gly837Ala)
c.2321G>C (p.Gly774Ala)
n.1450G>C
c.2282G>C (p.Gly761Ala)
c.2495G>C (p.Gly832Ala)
c.1094G>C (p.Gly365Ala)
c.1076G>C (p.Gly359Ala)
n.2615G>C
22g.19972947C>TCA410694598ARVCFc.2528G>A (p.Gly843Asp)
c.2339G>A (p.Gly780Asp)
c.2510G>A (p.Gly837Asp)
c.2321G>A (p.Gly774Asp)
n.1450G>A
c.2282G>A (p.Gly761Asp)
c.2495G>A (p.Gly832Asp)
c.1094G>A (p.Gly365Asp)
c.1076G>A (p.Gly359Asp)
n.2615G>A
 dbSNP gnomAD v2 gnomAD v4
22g.19972948C>ACA410694602ARVCFc.2527G>T (p.Gly843Cys)
c.2338G>T (p.Gly780Cys)
c.2509G>T (p.Gly837Cys)
c.2320G>T (p.Gly774Cys)
n.1449G>T
c.2281G>T (p.Gly761Cys)
c.2494G>T (p.Gly832Cys)
c.1093G>T (p.Gly365Cys)
c.1075G>T (p.Gly359Cys)
n.2614G>T
22g.19972948C=CA2396130908ARVCFc.2527G= (p.Gly843=)
c.2338G= (p.Gly780=)
c.2509G= (p.Gly837=)
c.2320G= (p.Gly774=)
n.1449G=
c.2281G= (p.Gly761=)
c.2494G= (p.Gly832=)
c.1093G= (p.Gly365=)
c.1075G= (p.Gly359=)
n.2614G=
22g.19972948C>GCA410694603ARVCFc.2527G>C (p.Gly843Arg)
c.2338G>C (p.Gly780Arg)
c.2509G>C (p.Gly837Arg)
c.2320G>C (p.Gly774Arg)
n.1449G>C
c.2281G>C (p.Gly761Arg)
c.2494G>C (p.Gly832Arg)
c.1093G>C (p.Gly365Arg)
c.1075G>C (p.Gly359Arg)
n.2614G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19972948C>TCA410694604ARVCFc.2527G>A (p.Gly843Ser)
c.2338G>A (p.Gly780Ser)
c.2509G>A (p.Gly837Ser)
c.2320G>A (p.Gly774Ser)
n.1449G>A
c.2281G>A (p.Gly761Ser)
c.2494G>A (p.Gly832Ser)
c.1093G>A (p.Gly365Ser)
c.1075G>A (p.Gly359Ser)
n.2614G>A
22g.19972948_19972949insTTCA751487647ARVCFc.2526_2527insAA (p.Gly843LysfsTer22)
c.2337_2338insAA (p.Gly780LysfsTer22)
c.2508_2509insAA (p.Gly837LysfsTer22)
c.2319_2320insAA (p.Gly774LysfsTer22)
n.1448_1449insAA
c.2280_2281insAA (p.Gly761LysfsTer22)
c.2493_2494insAA (p.Gly832LysfsTer22)
c.1092_1093insAA (p.Gly365LysfsTer22)
c.1074_1075insAA (p.Gly359LysfsTer22)
n.2613_2614insAA
 dbSNP
22g.19972949A>CCA410694606ARVCFc.2526T>G (p.Asp842Glu)
c.2337T>G (p.Asp779Glu)
c.2508T>G (p.Asp836Glu)
c.2319T>G (p.Asp773Glu)
n.1448T>G
c.2280T>G (p.Asp760Glu)
c.2493T>G (p.Asp831Glu)
c.1092T>G (p.Asp364Glu)
c.1074T>G (p.Asp358Glu)
n.2613T>G
22g.19972949A>GCA513688877ARVCFc.2526T>C (p.Asp842=)
c.2337T>C (p.Asp779=)
c.2508T>C (p.Asp836=)
c.2319T>C (p.Asp773=)
n.1448T>C
c.2280T>C (p.Asp760=)
c.2493T>C (p.Asp831=)
c.1092T>C (p.Asp364=)
c.1074T>C (p.Asp358=)
n.2613T>C
22g.19972949A>TCA410694607ARVCFc.2526T>A (p.Asp842Glu)
c.2337T>A (p.Asp779Glu)
c.2508T>A (p.Asp836Glu)
c.2319T>A (p.Asp773Glu)
n.1448T>A
c.2280T>A (p.Asp760Glu)
c.2493T>A (p.Asp831Glu)
c.1092T>A (p.Asp364Glu)
c.1074T>A (p.Asp358Glu)
n.2613T>A
22g.19972950T>ACA410694609ARVCFc.2525A>T (p.Asp842Val)
c.2336A>T (p.Asp779Val)
c.2507A>T (p.Asp836Val)
c.2318A>T (p.Asp773Val)
n.1447A>T
c.2279A>T (p.Asp760Val)
c.2492A>T (p.Asp831Val)
c.1091A>T (p.Asp364Val)
c.1073A>T (p.Asp358Val)
n.2612A>T
22g.19972950T>CCA410694611ARVCFc.2525A>G (p.Asp842Gly)
c.2336A>G (p.Asp779Gly)
c.2507A>G (p.Asp836Gly)
c.2318A>G (p.Asp773Gly)
n.1447A>G
c.2279A>G (p.Asp760Gly)
c.2492A>G (p.Asp831Gly)
c.1091A>G (p.Asp364Gly)
c.1073A>G (p.Asp358Gly)
n.2612A>G
 gnomAD v4
22g.19972950T>GCA10105074ARVCFc.2525A>C (p.Asp842Ala)
c.2336A>C (p.Asp779Ala)
c.2507A>C (p.Asp836Ala)
c.2318A>C (p.Asp773Ala)
n.1447A>C
c.2279A>C (p.Asp760Ala)
c.2492A>C (p.Asp831Ala)
c.1091A>C (p.Asp364Ala)
c.1073A>C (p.Asp358Ala)
n.2612A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972950T=CA2396130909ARVCFc.2525A= (p.Asp842=)
c.2336A= (p.Asp779=)
c.2507A= (p.Asp836=)
c.2318A= (p.Asp773=)
n.1447A=
c.2279A= (p.Asp760=)
c.2492A= (p.Asp831=)
c.1091A= (p.Asp364=)
c.1073A= (p.Asp358=)
n.2612A=
22g.19972951C>ACA410694614ARVCFc.2524G>T (p.Asp842Tyr)
c.2335G>T (p.Asp779Tyr)
c.2506G>T (p.Asp836Tyr)
c.2317G>T (p.Asp773Tyr)
n.1446G>T
c.2278G>T (p.Asp760Tyr)
c.2491G>T (p.Asp831Tyr)
c.1090G>T (p.Asp364Tyr)
c.1072G>T (p.Asp358Tyr)
n.2611G>T
22g.19972951C>GCA410694616ARVCFc.2524G>C (p.Asp842His)
c.2335G>C (p.Asp779His)
c.2506G>C (p.Asp836His)
c.2317G>C (p.Asp773His)
n.1446G>C
c.2278G>C (p.Asp760His)
c.2491G>C (p.Asp831His)
c.1090G>C (p.Asp364His)
c.1072G>C (p.Asp358His)
n.2611G>C
22g.19972951C>TCA410694617ARVCFc.2524G>A (p.Asp842Asn)
c.2335G>A (p.Asp779Asn)
c.2506G>A (p.Asp836Asn)
c.2317G>A (p.Asp773Asn)
n.1446G>A
c.2278G>A (p.Asp760Asn)
c.2491G>A (p.Asp831Asn)
c.1090G>A (p.Asp364Asn)
c.1072G>A (p.Asp358Asn)
n.2611G>A
22g.19972952T>ACA410694618ARVCFc.2523A>T (p.Lys841Asn)
c.2334A>T (p.Lys778Asn)
c.2505A>T (p.Lys835Asn)
c.2316A>T (p.Lys772Asn)
n.1445A>T
c.2277A>T (p.Lys759Asn)
c.2490A>T (p.Lys830Asn)
c.1089A>T (p.Lys363Asn)
c.1071A>T (p.Lys357Asn)
n.2610A>T
22g.19972952T>CCA513688883ARVCFc.2523A>G (p.Lys841=)
c.2334A>G (p.Lys778=)
c.2505A>G (p.Lys835=)
c.2316A>G (p.Lys772=)
n.1445A>G
c.2277A>G (p.Lys759=)
c.2490A>G (p.Lys830=)
c.1089A>G (p.Lys363=)
c.1071A>G (p.Lys357=)
n.2610A>G
 gnomAD v4
22g.19972952T>GCA410694620ARVCFc.2523A>C (p.Lys841Asn)
c.2334A>C (p.Lys778Asn)
c.2505A>C (p.Lys835Asn)
c.2316A>C (p.Lys772Asn)
n.1445A>C
c.2277A>C (p.Lys759Asn)
c.2490A>C (p.Lys830Asn)
c.1089A>C (p.Lys363Asn)
c.1071A>C (p.Lys357Asn)
n.2610A>C
22g.19972953T>ACA410694623ARVCFc.2522A>T (p.Lys841Ile)
c.2333A>T (p.Lys778Ile)
c.2504A>T (p.Lys835Ile)
c.2315A>T (p.Lys772Ile)
n.1444A>T
c.2276A>T (p.Lys759Ile)
c.2489A>T (p.Lys830Ile)
c.1088A>T (p.Lys363Ile)
c.1070A>T (p.Lys357Ile)
n.2609A>T
22g.19972953T>CCA410694621ARVCFc.2522A>G (p.Lys841Arg)
c.2333A>G (p.Lys778Arg)
c.2504A>G (p.Lys835Arg)
c.2315A>G (p.Lys772Arg)
n.1444A>G
c.2276A>G (p.Lys759Arg)
c.2489A>G (p.Lys830Arg)
c.1088A>G (p.Lys363Arg)
c.1070A>G (p.Lys357Arg)
n.2609A>G
22g.19972953T>GCA410694622ARVCFc.2522A>C (p.Lys841Thr)
c.2333A>C (p.Lys778Thr)
c.2504A>C (p.Lys835Thr)
c.2315A>C (p.Lys772Thr)
n.1444A>C
c.2276A>C (p.Lys759Thr)
c.2489A>C (p.Lys830Thr)
c.1088A>C (p.Lys363Thr)
c.1070A>C (p.Lys357Thr)
n.2609A>C
22g.19972954T>ACA410694625ARVCFc.2521A>T (p.Lys841Ter)
c.2332A>T (p.Lys778Ter)
c.2503A>T (p.Lys835Ter)
c.2314A>T (p.Lys772Ter)
n.1443A>T
c.2275A>T (p.Lys759Ter)
c.2488A>T (p.Lys830Ter)
c.1087A>T (p.Lys363Ter)
c.1069A>T (p.Lys357Ter)
n.2608A>T
22g.19972954T>CCA410694627ARVCFc.2521A>G (p.Lys841Glu)
c.2332A>G (p.Lys778Glu)
c.2503A>G (p.Lys835Glu)
c.2314A>G (p.Lys772Glu)
n.1443A>G
c.2275A>G (p.Lys759Glu)
c.2488A>G (p.Lys830Glu)
c.1087A>G (p.Lys363Glu)
c.1069A>G (p.Lys357Glu)
n.2608A>G
22g.19972954T>GCA410694629ARVCFc.2521A>C (p.Lys841Gln)
c.2332A>C (p.Lys778Gln)
c.2503A>C (p.Lys835Gln)
c.2314A>C (p.Lys772Gln)
n.1443A>C
c.2275A>C (p.Lys759Gln)
c.2488A>C (p.Lys830Gln)
c.1087A>C (p.Lys363Gln)
c.1069A>C (p.Lys357Gln)
n.2608A>C
22g.19972955C>ACA410694631ARVCFc.2520G>T (p.Gln840His)
c.2331G>T (p.Gln777His)
c.2502G>T (p.Gln834His)
c.2313G>T (p.Gln771His)
n.1442G>T
c.2274G>T (p.Gln758His)
c.2487G>T (p.Gln829His)
c.1086G>T (p.Gln362His)
c.1068G>T (p.Gln356His)
n.2607G>T
22g.19972955C=CA2396130910ARVCFc.2520G= (p.Gln840=)
c.2331G= (p.Gln777=)
c.2502G= (p.Gln834=)
c.2313G= (p.Gln771=)
n.1442G=
c.2274G= (p.Gln758=)
c.2487G= (p.Gln829=)
c.1086G= (p.Gln362=)
c.1068G= (p.Gln356=)
n.2607G=
22g.19972955C>GCA410694632ARVCFc.2520G>C (p.Gln840His)
c.2331G>C (p.Gln777His)
c.2502G>C (p.Gln834His)
c.2313G>C (p.Gln771His)
n.1442G>C
c.2274G>C (p.Gln758His)
c.2487G>C (p.Gln829His)
c.1086G>C (p.Gln362His)
c.1068G>C (p.Gln356His)
n.2607G>C
22g.19972955C>TCA10105075ARVCFc.2520G>A (p.Gln840=)
c.2331G>A (p.Gln777=)
c.2502G>A (p.Gln834=)
c.2313G>A (p.Gln771=)
n.1442G>A
c.2274G>A (p.Gln758=)
c.2487G>A (p.Gln829=)
c.1086G>A (p.Gln362=)
c.1068G>A (p.Gln356=)
n.2607G>A
 dbSNP ExAC gnomAD v4
22g.19972956T>ACA410694634ARVCFc.2519A>T (p.Gln840Leu)
c.2330A>T (p.Gln777Leu)
c.2501A>T (p.Gln834Leu)
c.2312A>T (p.Gln771Leu)
n.1441A>T
c.2273A>T (p.Gln758Leu)
c.2486A>T (p.Gln829Leu)
c.1085A>T (p.Gln362Leu)
c.1067A>T (p.Gln356Leu)
n.2606A>T
22g.19972956T>CCA410694636ARVCFc.2519A>G (p.Gln840Arg)
c.2330A>G (p.Gln777Arg)
c.2501A>G (p.Gln834Arg)
c.2312A>G (p.Gln771Arg)
n.1441A>G
c.2273A>G (p.Gln758Arg)
c.2486A>G (p.Gln829Arg)
c.1085A>G (p.Gln362Arg)
c.1067A>G (p.Gln356Arg)
n.2606A>G
 dbSNP gnomAD v3 gnomAD v4
22g.19972956T>GCA410694638ARVCFc.2519A>C (p.Gln840Pro)
c.2330A>C (p.Gln777Pro)
c.2501A>C (p.Gln834Pro)
c.2312A>C (p.Gln771Pro)
n.1441A>C
c.2273A>C (p.Gln758Pro)
c.2486A>C (p.Gln829Pro)
c.1085A>C (p.Gln362Pro)
c.1067A>C (p.Gln356Pro)
n.2606A>C
22g.19972956T=CA2396130911ARVCFc.2519A= (p.Gln840=)
c.2330A= (p.Gln777=)
c.2501A= (p.Gln834=)
c.2312A= (p.Gln771=)
n.1441A=
c.2273A= (p.Gln758=)
c.2486A= (p.Gln829=)
c.1085A= (p.Gln362=)
c.1067A= (p.Gln356=)
n.2606A=
22g.19972957G>ACA10105076ARVCFc.2518C>T (p.Gln840Ter)
c.2329C>T (p.Gln777Ter)
c.2500C>T (p.Gln834Ter)
c.2311C>T (p.Gln771Ter)
n.1440C>T
c.2272C>T (p.Gln758Ter)
c.2485C>T (p.Gln829Ter)
c.1084C>T (p.Gln362Ter)
c.1066C>T (p.Gln356Ter)
n.2605C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972957G>CCA410694641ARVCFc.2518C>G (p.Gln840Glu)
c.2329C>G (p.Gln777Glu)
c.2500C>G (p.Gln834Glu)
c.2311C>G (p.Gln771Glu)
n.1440C>G
c.2272C>G (p.Gln758Glu)
c.2485C>G (p.Gln829Glu)
c.1084C>G (p.Gln362Glu)
c.1066C>G (p.Gln356Glu)
n.2605C>G
22g.19972957G=CA2396130912ARVCFc.2518C= (p.Gln840=)
c.2329C= (p.Gln777=)
c.2500C= (p.Gln834=)
c.2311C= (p.Gln771=)
n.1440C=
c.2272C= (p.Gln758=)
c.2485C= (p.Gln829=)
c.1084C= (p.Gln362=)
c.1066C= (p.Gln356=)
n.2605C=
22g.19972957G>TCA410694642ARVCFc.2518C>A (p.Gln840Lys)
c.2329C>A (p.Gln777Lys)
c.2500C>A (p.Gln834Lys)
c.2311C>A (p.Gln771Lys)
n.1440C>A
c.2272C>A (p.Gln758Lys)
c.2485C>A (p.Gln829Lys)
c.1084C>A (p.Gln362Lys)
c.1066C>A (p.Gln356Lys)
n.2605C>A
22g.19972958C>ACA410694646ARVCFc.2517G>T (p.Leu839Phe)
c.2328G>T (p.Leu776Phe)
c.2499G>T (p.Leu833Phe)
c.2310G>T (p.Leu770Phe)
n.1439G>T
c.2271G>T (p.Leu757Phe)
c.2484G>T (p.Leu828Phe)
c.1083G>T (p.Leu361Phe)
c.1065G>T (p.Leu355Phe)
n.2604G>T
22g.19972958C=CA2396130913ARVCFc.2517G= (p.Leu839=)
c.2328G= (p.Leu776=)
c.2499G= (p.Leu833=)
c.2310G= (p.Leu770=)
n.1439G=
c.2271G= (p.Leu757=)
c.2484G= (p.Leu828=)
c.1083G= (p.Leu361=)
c.1065G= (p.Leu355=)
n.2604G=
22g.19972958C>GCA410694644ARVCFc.2517G>C (p.Leu839Phe)
c.2328G>C (p.Leu776Phe)
c.2499G>C (p.Leu833Phe)
c.2310G>C (p.Leu770Phe)
n.1439G>C
c.2271G>C (p.Leu757Phe)
c.2484G>C (p.Leu828Phe)
c.1083G>C (p.Leu361Phe)
c.1065G>C (p.Leu355Phe)
n.2604G>C
22g.19972958C>TCA513688895ARVCFc.2517G>A (p.Leu839=)
c.2328G>A (p.Leu776=)
c.2499G>A (p.Leu833=)
c.2310G>A (p.Leu770=)
n.1439G>A
c.2271G>A (p.Leu757=)
c.2484G>A (p.Leu828=)
c.1083G>A (p.Leu361=)
c.1065G>A (p.Leu355=)
n.2604G>A
 dbSNP
22g.19972959A=CA2396130914ARVCFc.2516T= (p.Leu839=)
c.2327T= (p.Leu776=)
c.2498T= (p.Leu833=)
c.2309T= (p.Leu770=)
n.1438T=
c.2270T= (p.Leu757=)
c.2483T= (p.Leu828=)
c.1082T= (p.Leu361=)
c.1064T= (p.Leu355=)
n.2603T=
22g.19972959A>CCA410694647ARVCFc.2516T>G (p.Leu839Trp)
c.2327T>G (p.Leu776Trp)
c.2498T>G (p.Leu833Trp)
c.2309T>G (p.Leu770Trp)
n.1438T>G
c.2270T>G (p.Leu757Trp)
c.2483T>G (p.Leu828Trp)
c.1082T>G (p.Leu361Trp)
c.1064T>G (p.Leu355Trp)
n.2603T>G
 dbSNP gnomAD v2 gnomAD v4
22g.19972959A>GCA10105077ARVCFc.2516T>C (p.Leu839Ser)
c.2327T>C (p.Leu776Ser)
c.2498T>C (p.Leu833Ser)
c.2309T>C (p.Leu770Ser)
n.1438T>C
c.2270T>C (p.Leu757Ser)
c.2483T>C (p.Leu828Ser)
c.1082T>C (p.Leu361Ser)
c.1064T>C (p.Leu355Ser)
n.2603T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972959A>TCA410694649ARVCFc.2516T>A (p.Leu839Ter)
c.2327T>A (p.Leu776Ter)
c.2498T>A (p.Leu833Ter)
c.2309T>A (p.Leu770Ter)
n.1438T>A
c.2270T>A (p.Leu757Ter)
c.2483T>A (p.Leu828Ter)
c.1082T>A (p.Leu361Ter)
c.1064T>A (p.Leu355Ter)
n.2603T>A
22g.19972960delCA2577648622ARVCFc.2516del (p.Leu839CysfsTer25)
c.2327del (p.Leu776CysfsTer25)
c.2498del (p.Leu833CysfsTer25)
c.2309del (p.Leu770CysfsTer25)
n.1438del
c.2270del (p.Leu757CysfsTer25)
c.2483del (p.Leu828CysfsTer25)
c.1082del (p.Leu361CysfsTer25)
c.1064del (p.Leu355CysfsTer25)
n.2603del
22g.19972960A>CCA410694651ARVCFc.2515T>G (p.Leu839Val)
c.2326T>G (p.Leu776Val)
c.2497T>G (p.Leu833Val)
c.2308T>G (p.Leu770Val)
n.1437T>G
c.2269T>G (p.Leu757Val)
c.2482T>G (p.Leu828Val)
c.1081T>G (p.Leu361Val)
c.1063T>G (p.Leu355Val)
n.2602T>G
22g.19972960A>GCA513688911ARVCFc.2515T>C (p.Leu839=)
c.2326T>C (p.Leu776=)
c.2497T>C (p.Leu833=)
c.2308T>C (p.Leu770=)
n.1437T>C
c.2269T>C (p.Leu757=)
c.2482T>C (p.Leu828=)
c.1081T>C (p.Leu361=)
c.1063T>C (p.Leu355=)
n.2602T>C
 gnomAD v4
22g.19972960A>TCA410694653ARVCFc.2515T>A (p.Leu839Met)
c.2326T>A (p.Leu776Met)
c.2497T>A (p.Leu833Met)
c.2308T>A (p.Leu770Met)
n.1437T>A
c.2269T>A (p.Leu757Met)
c.2482T>A (p.Leu828Met)
c.1081T>A (p.Leu361Met)
c.1063T>A (p.Leu355Met)
n.2602T>A
22g.19972961G>ACA10105078ARVCFc.2514C>T (p.Thr838=)
c.2325C>T (p.Thr775=)
c.2496C>T (p.Thr832=)
c.2307C>T (p.Thr769=)
n.1436C>T
c.2268C>T (p.Thr756=)
c.2481C>T (p.Thr827=)
c.1080C>T (p.Thr360=)
c.1062C>T (p.Thr354=)
n.2601C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972961G>CCA513688915ARVCFc.2514C>G (p.Thr838=)
c.2325C>G (p.Thr775=)
c.2496C>G (p.Thr832=)
c.2307C>G (p.Thr769=)
n.1436C>G
c.2268C>G (p.Thr756=)
c.2481C>G (p.Thr827=)
c.1080C>G (p.Thr360=)
c.1062C>G (p.Thr354=)
n.2601C>G
 dbSNP gnomAD v3 gnomAD v4
22g.19972961G=CA2396130915ARVCFc.2514C= (p.Thr838=)
c.2325C= (p.Thr775=)
c.2496C= (p.Thr832=)
c.2307C= (p.Thr769=)
n.1436C=
c.2268C= (p.Thr756=)
c.2481C= (p.Thr827=)
c.1080C= (p.Thr360=)
c.1062C= (p.Thr354=)
n.2601C=
22g.19972961G>TCA513688918ARVCFc.2514C>A (p.Thr838=)
c.2325C>A (p.Thr775=)
c.2496C>A (p.Thr832=)
c.2307C>A (p.Thr769=)
n.1436C>A
c.2268C>A (p.Thr756=)
c.2481C>A (p.Thr827=)
c.1080C>A (p.Thr360=)
c.1062C>A (p.Thr354=)
n.2601C>A
22g.19972962G>ACA410694656ARVCFc.2513C>T (p.Thr838Ile)
c.2324C>T (p.Thr775Ile)
c.2495C>T (p.Thr832Ile)
c.2306C>T (p.Thr769Ile)
n.1435C>T
c.2267C>T (p.Thr756Ile)
c.2480C>T (p.Thr827Ile)
c.1079C>T (p.Thr360Ile)
c.1061C>T (p.Thr354Ile)
n.2600C>T
 ClinVar gnomAD v4
22g.19972962G>CCA10105079ARVCFc.2513C>G (p.Thr838Ser)
c.2324C>G (p.Thr775Ser)
c.2495C>G (p.Thr832Ser)
c.2306C>G (p.Thr769Ser)
n.1435C>G
c.2267C>G (p.Thr756Ser)
c.2480C>G (p.Thr827Ser)
c.1079C>G (p.Thr360Ser)
c.1061C>G (p.Thr354Ser)
n.2600C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972962G=CA2396130916ARVCFc.2513C= (p.Thr838=)
c.2324C= (p.Thr775=)
c.2495C= (p.Thr832=)
c.2306C= (p.Thr769=)
n.1435C=
c.2267C= (p.Thr756=)
c.2480C= (p.Thr827=)
c.1079C= (p.Thr360=)
c.1061C= (p.Thr354=)
n.2600C=
22g.19972962G>TCA410694658ARVCFc.2513C>A (p.Thr838Asn)
c.2324C>A (p.Thr775Asn)
c.2495C>A (p.Thr832Asn)
c.2306C>A (p.Thr769Asn)
n.1435C>A
c.2267C>A (p.Thr756Asn)
c.2480C>A (p.Thr827Asn)
c.1079C>A (p.Thr360Asn)
c.1061C>A (p.Thr354Asn)
n.2600C>A
 gnomAD v4
22g.19972963T>ACA410694660ARVCFc.2512A>T (p.Thr838Ser)
c.2323A>T (p.Thr775Ser)
c.2494A>T (p.Thr832Ser)
c.2305A>T (p.Thr769Ser)
n.1434A>T
c.2266A>T (p.Thr756Ser)
c.2479A>T (p.Thr827Ser)
c.1078A>T (p.Thr360Ser)
c.1060A>T (p.Thr354Ser)
n.2599A>T
22g.19972963T>CCA410694662ARVCFc.2512A>G (p.Thr838Ala)
c.2323A>G (p.Thr775Ala)
c.2494A>G (p.Thr832Ala)
c.2305A>G (p.Thr769Ala)
n.1434A>G
c.2266A>G (p.Thr756Ala)
c.2479A>G (p.Thr827Ala)
c.1078A>G (p.Thr360Ala)
c.1060A>G (p.Thr354Ala)
n.2599A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19972963T>GCA410694663ARVCFc.2512A>C (p.Thr838Pro)
c.2323A>C (p.Thr775Pro)
c.2494A>C (p.Thr832Pro)
c.2305A>C (p.Thr769Pro)
n.1434A>C
c.2266A>C (p.Thr756Pro)
c.2479A>C (p.Thr827Pro)
c.1078A>C (p.Thr360Pro)
c.1060A>C (p.Thr354Pro)
n.2599A>C
22g.19972963T=CA2396130917ARVCFc.2512A= (p.Thr838=)
c.2323A= (p.Thr775=)
c.2494A= (p.Thr832=)
c.2305A= (p.Thr769=)
n.1434A=
c.2266A= (p.Thr756=)
c.2479A= (p.Thr827=)
c.1078A= (p.Thr360=)
c.1060A= (p.Thr354=)
n.2599A=
22g.19972964A>CCA513688933ARVCFc.2511T>G (p.Gly837=)
c.2322T>G (p.Gly774=)
c.2493T>G (p.Gly831=)
c.2304T>G (p.Gly768=)
n.1433T>G
c.2265T>G (p.Gly755=)
c.2478T>G (p.Gly826=)
c.1077T>G (p.Gly359=)
c.1059T>G (p.Gly353=)
n.2598T>G
22g.19972964A>GCA513688934ARVCFc.2511T>C (p.Gly837=)
c.2322T>C (p.Gly774=)
c.2493T>C (p.Gly831=)
c.2304T>C (p.Gly768=)
n.1433T>C
c.2265T>C (p.Gly755=)
c.2478T>C (p.Gly826=)
c.1077T>C (p.Gly359=)
c.1059T>C (p.Gly353=)
n.2598T>C
22g.19972964A>TCA513688937ARVCFc.2511T>A (p.Gly837=)
c.2322T>A (p.Gly774=)
c.2493T>A (p.Gly831=)
c.2304T>A (p.Gly768=)
n.1433T>A
c.2265T>A (p.Gly755=)
c.2478T>A (p.Gly826=)
c.1077T>A (p.Gly359=)
c.1059T>A (p.Gly353=)
n.2598T>A
22g.19972965C>ACA410694664ARVCFc.2510G>T (p.Gly837Val)
c.2321G>T (p.Gly774Val)
c.2492G>T (p.Gly831Val)
c.2303G>T (p.Gly768Val)
n.1432G>T
c.2264G>T (p.Gly755Val)
c.2477G>T (p.Gly826Val)
c.1076G>T (p.Gly359Val)
c.1058G>T (p.Gly353Val)
n.2597G>T
22g.19972965C=CA2396130918ARVCFc.2510G= (p.Gly837=)
c.2321G= (p.Gly774=)
c.2492G= (p.Gly831=)
c.2303G= (p.Gly768=)
n.1432G=
c.2264G= (p.Gly755=)
c.2477G= (p.Gly826=)
c.1076G= (p.Gly359=)
c.1058G= (p.Gly353=)
n.2597G=
22g.19972965C>GCA10105080ARVCFc.2510G>C (p.Gly837Ala)
c.2321G>C (p.Gly774Ala)
c.2492G>C (p.Gly831Ala)
c.2303G>C (p.Gly768Ala)
n.1432G>C
c.2264G>C (p.Gly755Ala)
c.2477G>C (p.Gly826Ala)
c.1076G>C (p.Gly359Ala)
c.1058G>C (p.Gly353Ala)
n.2597G>C
 dbSNP ExAC gnomAD v3 gnomAD v4
22g.19972965C>TCA410694665ARVCFc.2510G>A (p.Gly837Asp)
c.2321G>A (p.Gly774Asp)
c.2492G>A (p.Gly831Asp)
c.2303G>A (p.Gly768Asp)
n.1432G>A
c.2264G>A (p.Gly755Asp)
c.2477G>A (p.Gly826Asp)
c.1076G>A (p.Gly359Asp)
c.1058G>A (p.Gly353Asp)
n.2597G>A
22g.19972966C>ACA410694671ARVCFc.2509G>T (p.Gly837Cys)
c.2320G>T (p.Gly774Cys)
c.2491G>T (p.Gly831Cys)
c.2302G>T (p.Gly768Cys)
n.1431G>T
c.2263G>T (p.Gly755Cys)
c.2476G>T (p.Gly826Cys)
c.1075G>T (p.Gly359Cys)
c.1057G>T (p.Gly353Cys)
n.2596G>T
22g.19972966C>GCA410694669ARVCFc.2509G>C (p.Gly837Arg)
c.2320G>C (p.Gly774Arg)
c.2491G>C (p.Gly831Arg)
c.2302G>C (p.Gly768Arg)
n.1431G>C
c.2263G>C (p.Gly755Arg)
c.2476G>C (p.Gly826Arg)
c.1075G>C (p.Gly359Arg)
c.1057G>C (p.Gly353Arg)
n.2596G>C
 gnomAD v4
22g.19972966C>TCA410694667ARVCFc.2509G>A (p.Gly837Ser)
c.2320G>A (p.Gly774Ser)
c.2491G>A (p.Gly831Ser)
c.2302G>A (p.Gly768Ser)
n.1431G>A
c.2263G>A (p.Gly755Ser)
c.2476G>A (p.Gly826Ser)
c.1075G>A (p.Gly359Ser)
c.1057G>A (p.Gly353Ser)
n.2596G>A
22g.19972967A>CCA513688950ARVCFc.2508T>G (p.Arg836=)
c.2319T>G (p.Arg773=)
c.2490T>G (p.Arg830=)
c.2301T>G (p.Arg767=)
n.1430T>G
c.2262T>G (p.Arg754=)
c.2475T>G (p.Arg825=)
c.1074T>G (p.Arg358=)
c.1056T>G (p.Arg352=)
n.2595T>G
22g.19972967A>GCA513688951ARVCFc.2508T>C (p.Arg836=)
c.2319T>C (p.Arg773=)
c.2490T>C (p.Arg830=)
c.2301T>C (p.Arg767=)
n.1430T>C
c.2262T>C (p.Arg754=)
c.2475T>C (p.Arg825=)
c.1074T>C (p.Arg358=)
c.1056T>C (p.Arg352=)
n.2595T>C
22g.19972967A>TCA513688953ARVCFc.2508T>A (p.Arg836=)
c.2319T>A (p.Arg773=)
c.2490T>A (p.Arg830=)
c.2301T>A (p.Arg767=)
n.1430T>A
c.2262T>A (p.Arg754=)
c.2475T>A (p.Arg825=)
c.1074T>A (p.Arg358=)
c.1056T>A (p.Arg352=)
n.2595T>A
22g.19972968C>ACA410694672ARVCFc.2507G>T (p.Arg836Leu)
c.2318G>T (p.Arg773Leu)
c.2489G>T (p.Arg830Leu)
c.2300G>T (p.Arg767Leu)
n.1429G>T
c.2261G>T (p.Arg754Leu)
c.2474G>T (p.Arg825Leu)
c.1073G>T (p.Arg358Leu)
c.1055G>T (p.Arg352Leu)
n.2594G>T
22g.19972968C=CA2396130919ARVCFc.2507G= (p.Arg836=)
c.2318G= (p.Arg773=)
c.2489G= (p.Arg830=)
c.2300G= (p.Arg767=)
n.1429G=
c.2261G= (p.Arg754=)
c.2474G= (p.Arg825=)
c.1073G= (p.Arg358=)
c.1055G= (p.Arg352=)
n.2594G=
22g.19972968C>GCA410694674ARVCFc.2507G>C (p.Arg836Pro)
c.2318G>C (p.Arg773Pro)
c.2489G>C (p.Arg830Pro)
c.2300G>C (p.Arg767Pro)
n.1429G>C
c.2261G>C (p.Arg754Pro)
c.2474G>C (p.Arg825Pro)
c.1073G>C (p.Arg358Pro)
c.1055G>C (p.Arg352Pro)
n.2594G>C
 gnomAD v4
22g.19972968C>TCA410694675ARVCFc.2507G>A (p.Arg836His)
c.2318G>A (p.Arg773His)
c.2489G>A (p.Arg830His)
c.2300G>A (p.Arg767His)
n.1429G>A
c.2261G>A (p.Arg754His)
c.2474G>A (p.Arg825His)
c.1073G>A (p.Arg358His)
c.1055G>A (p.Arg352His)
n.2594G>A
 dbSNP gnomAD v2 gnomAD v4
22g.19972969G>ACA10105082ARVCFc.2506C>T (p.Arg836Cys)
c.2317C>T (p.Arg773Cys)
c.2488C>T (p.Arg830Cys)
c.2299C>T (p.Arg767Cys)
n.1428C>T
c.2260C>T (p.Arg754Cys)
c.2473C>T (p.Arg825Cys)
c.1072C>T (p.Arg358Cys)
c.1054C>T (p.Arg352Cys)
n.2593C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972969G>CCA410694677ARVCFc.2506C>G (p.Arg836Gly)
c.2317C>G (p.Arg773Gly)
c.2488C>G (p.Arg830Gly)
c.2299C>G (p.Arg767Gly)
n.1428C>G
c.2260C>G (p.Arg754Gly)
c.2473C>G (p.Arg825Gly)
c.1072C>G (p.Arg358Gly)
c.1054C>G (p.Arg352Gly)
n.2593C>G
22g.19972969G=CA2396130920ARVCFc.2506C= (p.Arg836=)
c.2317C= (p.Arg773=)
c.2488C= (p.Arg830=)
c.2299C= (p.Arg767=)
n.1428C=
c.2260C= (p.Arg754=)
c.2473C= (p.Arg825=)
c.1072C= (p.Arg358=)
c.1054C= (p.Arg352=)
n.2593C=
22g.19972969G>TCA10105081ARVCFc.2506C>A (p.Arg836Ser)
c.2317C>A (p.Arg773Ser)
c.2488C>A (p.Arg830Ser)
c.2299C>A (p.Arg767Ser)
n.1428C>A
c.2260C>A (p.Arg754Ser)
c.2473C>A (p.Arg825Ser)
c.1072C>A (p.Arg358Ser)
c.1054C>A (p.Arg352Ser)
n.2593C>A
 dbSNP ExAC gnomAD v2
22g.19972970C>ACA513688975ARVCFc.2505G>T (p.Leu835=)
c.2316G>T (p.Leu772=)
c.2487G>T (p.Leu829=)
c.2298G>T (p.Leu766=)
n.1427G>T
c.2259G>T (p.Leu753=)
c.2472G>T (p.Leu824=)
c.1071G>T (p.Leu357=)
c.1053G>T (p.Leu351=)
n.2592G>T
22g.19972970C=CA2396130921ARVCFc.2505G= (p.Leu835=)
c.2316G= (p.Leu772=)
c.2487G= (p.Leu829=)
c.2298G= (p.Leu766=)
n.1427G=
c.2259G= (p.Leu753=)
c.2472G= (p.Leu824=)
c.1071G= (p.Leu357=)
c.1053G= (p.Leu351=)
n.2592G=
22g.19972970C>GCA513688976ARVCFc.2505G>C (p.Leu835=)
c.2316G>C (p.Leu772=)
c.2487G>C (p.Leu829=)
c.2298G>C (p.Leu766=)
n.1427G>C
c.2259G>C (p.Leu753=)
c.2472G>C (p.Leu824=)
c.1071G>C (p.Leu357=)
c.1053G>C (p.Leu351=)
n.2592G>C
 dbSNP
22g.19972970C>TCA513688980ARVCFc.2505G>A (p.Leu835=)
c.2316G>A (p.Leu772=)
c.2487G>A (p.Leu829=)
c.2298G>A (p.Leu766=)
n.1427G>A
c.2259G>A (p.Leu753=)
c.2472G>A (p.Leu824=)
c.1071G>A (p.Leu357=)
c.1053G>A (p.Leu351=)
n.2592G>A
22g.19972971A>CCA410694680ARVCFc.2504T>G (p.Leu835Arg)
c.2315T>G (p.Leu772Arg)
c.2486T>G (p.Leu829Arg)
c.2297T>G (p.Leu766Arg)
n.1426T>G
c.2258T>G (p.Leu753Arg)
c.2471T>G (p.Leu824Arg)
c.1070T>G (p.Leu357Arg)
c.1052T>G (p.Leu351Arg)
n.2591T>G
22g.19972971A>GCA410694682ARVCFc.2504T>C (p.Leu835Pro)
c.2315T>C (p.Leu772Pro)
c.2486T>C (p.Leu829Pro)
c.2297T>C (p.Leu766Pro)
n.1426T>C
c.2258T>C (p.Leu753Pro)
c.2471T>C (p.Leu824Pro)
c.1070T>C (p.Leu357Pro)
c.1052T>C (p.Leu351Pro)
n.2591T>C
 gnomAD v4
22g.19972971A>TCA410694683ARVCFc.2504T>A (p.Leu835Gln)
c.2315T>A (p.Leu772Gln)
c.2486T>A (p.Leu829Gln)
c.2297T>A (p.Leu766Gln)
n.1426T>A
c.2258T>A (p.Leu753Gln)
c.2471T>A (p.Leu824Gln)
c.1070T>A (p.Leu357Gln)
c.1052T>A (p.Leu351Gln)
n.2591T>A
22g.19972972G>ACA513688983ARVCFc.2503C>T (p.Leu835=)
c.2314C>T (p.Leu772=)
c.2485C>T (p.Leu829=)
c.2296C>T (p.Leu766=)
n.1425C>T
c.2257C>T (p.Leu753=)
c.2470C>T (p.Leu824=)
c.1069C>T (p.Leu357=)
c.1051C>T (p.Leu351=)
n.2590C>T
 gnomAD v4
22g.19972972G>CCA10105083ARVCFc.2503C>G (p.Leu835Val)
c.2314C>G (p.Leu772Val)
c.2485C>G (p.Leu829Val)
c.2296C>G (p.Leu766Val)
n.1425C>G
c.2257C>G (p.Leu753Val)
c.2470C>G (p.Leu824Val)
c.1069C>G (p.Leu357Val)
c.1051C>G (p.Leu351Val)
n.2590C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972972G=CA2396130922ARVCFc.2503C= (p.Leu835=)
c.2314C= (p.Leu772=)
c.2485C= (p.Leu829=)
c.2296C= (p.Leu766=)
n.1425C=
c.2257C= (p.Leu753=)
c.2470C= (p.Leu824=)
c.1069C= (p.Leu357=)
c.1051C= (p.Leu351=)
n.2590C=
22g.19972972G>TCA410694686ARVCFc.2503C>A (p.Leu835Met)
c.2314C>A (p.Leu772Met)
c.2485C>A (p.Leu829Met)
c.2296C>A (p.Leu766Met)
n.1425C>A
c.2257C>A (p.Leu753Met)
c.2470C>A (p.Leu824Met)
c.1069C>A (p.Leu357Met)
c.1051C>A (p.Leu351Met)
n.2590C>A
22g.19972973C>ACA410694687ARVCFc.2502G>T (p.Glu834Asp)
c.2313G>T (p.Glu771Asp)
c.2484G>T (p.Glu828Asp)
c.2295G>T (p.Glu765Asp)
n.1424G>T
c.2256G>T (p.Glu752Asp)
c.2469G>T (p.Glu823Asp)
c.1068G>T (p.Glu356Asp)
c.1050G>T (p.Glu350Asp)
n.2589G>T
22g.19972973C=CA2396130923ARVCFc.2502G= (p.Glu834=)
c.2313G= (p.Glu771=)
c.2484G= (p.Glu828=)
c.2295G= (p.Glu765=)
n.1424G=
c.2256G= (p.Glu752=)
c.2469G= (p.Glu823=)
c.1068G= (p.Glu356=)
c.1050G= (p.Glu350=)
n.2589G=
22g.19972973C>GCA410694689ARVCFc.2502G>C (p.Glu834Asp)
c.2313G>C (p.Glu771Asp)
c.2484G>C (p.Glu828Asp)
c.2295G>C (p.Glu765Asp)
n.1424G>C
c.2256G>C (p.Glu752Asp)
c.2469G>C (p.Glu823Asp)
c.1068G>C (p.Glu356Asp)
c.1050G>C (p.Glu350Asp)
n.2589G>C
 dbSNP gnomAD v4
22g.19972973C>TCA513688994ARVCFc.2502G>A (p.Glu834=)
c.2313G>A (p.Glu771=)
c.2484G>A (p.Glu828=)
c.2295G>A (p.Glu765=)
n.1424G>A
c.2256G>A (p.Glu752=)
c.2469G>A (p.Glu823=)
c.1068G>A (p.Glu356=)
c.1050G>A (p.Glu350=)
n.2589G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19972974T>ACA410694692ARVCFc.2501A>T (p.Glu834Val)
c.2312A>T (p.Glu771Val)
c.2483A>T (p.Glu828Val)
c.2294A>T (p.Glu765Val)
n.1423A>T
c.2255A>T (p.Glu752Val)
c.2468A>T (p.Glu823Val)
c.1067A>T (p.Glu356Val)
c.1049A>T (p.Glu350Val)
n.2588A>T
 gnomAD v4
22g.19972974T>CCA410694690ARVCFc.2501A>G (p.Glu834Gly)
c.2312A>G (p.Glu771Gly)
c.2483A>G (p.Glu828Gly)
c.2294A>G (p.Glu765Gly)
n.1423A>G
c.2255A>G (p.Glu752Gly)
c.2468A>G (p.Glu823Gly)
c.1067A>G (p.Glu356Gly)
c.1049A>G (p.Glu350Gly)
n.2588A>G
 dbSNP
22g.19972974T>GCA410694691ARVCFc.2501A>C (p.Glu834Ala)
c.2312A>C (p.Glu771Ala)
c.2483A>C (p.Glu828Ala)
c.2294A>C (p.Glu765Ala)
n.1423A>C
c.2255A>C (p.Glu752Ala)
c.2468A>C (p.Glu823Ala)
c.1067A>C (p.Glu356Ala)
c.1049A>C (p.Glu350Ala)
n.2588A>C
22g.19972974T=CA2396130924ARVCFc.2501A= (p.Glu834=)
c.2312A= (p.Glu771=)
c.2483A= (p.Glu828=)
c.2294A= (p.Glu765=)
n.1423A=
c.2255A= (p.Glu752=)
c.2468A= (p.Glu823=)
c.1067A= (p.Glu356=)
c.1049A= (p.Glu350=)
n.2588A=
22g.19972975_19972976insGTGTCCA10105084ARVCFc.2501_2502insCACGA (p.Glu834AspfsTer32)
c.2312_2313insCACGA (p.Glu771AspfsTer32)
c.2483_2484insCACGA (p.Glu828AspfsTer32)
c.2294_2295insCACGA (p.Glu765AspfsTer32)
n.1423_1424insCACGA
c.2255_2256insCACGA (p.Glu752AspfsTer32)
c.2468_2469insCACGA (p.Glu823AspfsTer32)
c.1067_1068insCACGA (p.Glu356AspfsTer32)
c.1049_1050insCACGA (p.Glu350AspfsTer32)
n.2588_2589insCACGA
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972975C>ACA10105085ARVCFc.2500G>T (p.Glu834Ter)
c.2311G>T (p.Glu771Ter)
c.2482G>T (p.Glu828Ter)
c.2293G>T (p.Glu765Ter)
n.1422G>T
c.2254G>T (p.Glu752Ter)
c.2467G>T (p.Glu823Ter)
c.1066G>T (p.Glu356Ter)
c.1048G>T (p.Glu350Ter)
n.2587G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972975C=CA2396130925ARVCFc.2500G= (p.Glu834=)
c.2311G= (p.Glu771=)
c.2482G= (p.Glu828=)
c.2293G= (p.Glu765=)
n.1422G=
c.2254G= (p.Glu752=)
c.2467G= (p.Glu823=)
c.1066G= (p.Glu356=)
c.1048G= (p.Glu350=)
n.2587G=
22g.19972975C>GCA410694693ARVCFc.2500G>C (p.Glu834Gln)
c.2311G>C (p.Glu771Gln)
c.2482G>C (p.Glu828Gln)
c.2293G>C (p.Glu765Gln)
n.1422G>C
c.2254G>C (p.Glu752Gln)
c.2467G>C (p.Glu823Gln)
c.1066G>C (p.Glu356Gln)
c.1048G>C (p.Glu350Gln)
n.2587G>C
22g.19972975C>TCA410694694ARVCFc.2500G>A (p.Glu834Lys)
c.2311G>A (p.Glu771Lys)
c.2482G>A (p.Glu828Lys)
c.2293G>A (p.Glu765Lys)
n.1422G>A
c.2254G>A (p.Glu752Lys)
c.2467G>A (p.Glu823Lys)
c.1066G>A (p.Glu356Lys)
c.1048G>A (p.Glu350Lys)
n.2587G>A
 dbSNP gnomAD v3 gnomAD v4
22g.19972976C>ACA410694695ARVCFc.2499G>T (p.Lys833Asn)
c.2310G>T (p.Lys770Asn)
c.2481G>T (p.Lys827Asn)
c.2292G>T (p.Lys764Asn)
n.1421G>T
c.2253G>T (p.Lys751Asn)
c.2466G>T (p.Lys822Asn)
c.1065G>T (p.Lys355Asn)
c.1047G>T (p.Lys349Asn)
n.2586G>T
22g.19972976C=CA2396130926ARVCFc.2499G= (p.Lys833=)
c.2310G= (p.Lys770=)
c.2481G= (p.Lys827=)
c.2292G= (p.Lys764=)
n.1421G=
c.2253G= (p.Lys751=)
c.2466G= (p.Lys822=)
c.1065G= (p.Lys355=)
c.1047G= (p.Lys349=)
n.2586G=
22g.19972976C>GCA410694696ARVCFc.2499G>C (p.Lys833Asn)
c.2310G>C (p.Lys770Asn)
c.2481G>C (p.Lys827Asn)
c.2292G>C (p.Lys764Asn)
n.1421G>C
c.2253G>C (p.Lys751Asn)
c.2466G>C (p.Lys822Asn)
c.1065G>C (p.Lys355Asn)
c.1047G>C (p.Lys349Asn)
n.2586G>C
22g.19972976C>TCA10105086ARVCFc.2499G>A (p.Lys833=)
c.2310G>A (p.Lys770=)
c.2481G>A (p.Lys827=)
c.2292G>A (p.Lys764=)
n.1421G>A
c.2253G>A (p.Lys751=)
c.2466G>A (p.Lys822=)
c.1065G>A (p.Lys355=)
c.1047G>A (p.Lys349=)
n.2586G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972977T>ACA410694697ARVCFc.2498A>T (p.Lys833Met)
c.2309A>T (p.Lys770Met)
c.2480A>T (p.Lys827Met)
c.2291A>T (p.Lys764Met)
n.1420A>T
c.2252A>T (p.Lys751Met)
c.2465A>T (p.Lys822Met)
c.1064A>T (p.Lys355Met)
c.1046A>T (p.Lys349Met)
n.2585A>T
22g.19972977T>CCA410694698ARVCFc.2498A>G (p.Lys833Arg)
c.2309A>G (p.Lys770Arg)
c.2480A>G (p.Lys827Arg)
c.2291A>G (p.Lys764Arg)
n.1420A>G
c.2252A>G (p.Lys751Arg)
c.2465A>G (p.Lys822Arg)
c.1064A>G (p.Lys355Arg)
c.1046A>G (p.Lys349Arg)
n.2585A>G
 gnomAD v4
22g.19972977T>GCA410694699ARVCFc.2498A>C (p.Lys833Thr)
c.2309A>C (p.Lys770Thr)
c.2480A>C (p.Lys827Thr)
c.2291A>C (p.Lys764Thr)
n.1420A>C
c.2252A>C (p.Lys751Thr)
c.2465A>C (p.Lys822Thr)
c.1064A>C (p.Lys355Thr)
c.1046A>C (p.Lys349Thr)
n.2585A>C
22g.19972978T>ACA410694700ARVCFc.2497A>T (p.Lys833Ter)
c.2308A>T (p.Lys770Ter)
c.2479A>T (p.Lys827Ter)
c.2290A>T (p.Lys764Ter)
n.1419A>T
c.2251A>T (p.Lys751Ter)
c.2464A>T (p.Lys822Ter)
c.1063A>T (p.Lys355Ter)
c.1045A>T (p.Lys349Ter)
n.2584A>T
22g.19972978T>CCA410694701ARVCFc.2497A>G (p.Lys833Glu)
c.2308A>G (p.Lys770Glu)
c.2479A>G (p.Lys827Glu)
c.2290A>G (p.Lys764Glu)
n.1419A>G
c.2251A>G (p.Lys751Glu)
c.2464A>G (p.Lys822Glu)
c.1063A>G (p.Lys355Glu)
c.1045A>G (p.Lys349Glu)
n.2584A>G
 dbSNP gnomAD v3 gnomAD v4
22g.19972978T>GCA410694702ARVCFc.2497A>C (p.Lys833Gln)
c.2308A>C (p.Lys770Gln)
c.2479A>C (p.Lys827Gln)
c.2290A>C (p.Lys764Gln)
n.1419A>C
c.2251A>C (p.Lys751Gln)
c.2464A>C (p.Lys822Gln)
c.1063A>C (p.Lys355Gln)
c.1045A>C (p.Lys349Gln)
n.2584A>C
22g.19972978T=CA2396130927ARVCFc.2497A= (p.Lys833=)
c.2308A= (p.Lys770=)
c.2479A= (p.Lys827=)
c.2290A= (p.Lys764=)
n.1419A=
c.2251A= (p.Lys751=)
c.2464A= (p.Lys822=)
c.1063A= (p.Lys355=)
c.1045A= (p.Lys349=)
n.2584A=
22g.19972979G>ACA513689011ARVCFc.2496C>T (p.Tyr832=)
c.2307C>T (p.Tyr769=)
c.2478C>T (p.Tyr826=)
c.2289C>T (p.Tyr763=)
n.1418C>T
c.2250C>T (p.Tyr750=)
c.2463C>T (p.Tyr821=)
c.1062C>T (p.Tyr354=)
c.1044C>T (p.Tyr348=)
n.2583C>T
 dbSNP
22g.19972979G>CCA410694703ARVCFc.2496C>G (p.Tyr832Ter)
c.2307C>G (p.Tyr769Ter)
c.2478C>G (p.Tyr826Ter)
c.2289C>G (p.Tyr763Ter)
n.1418C>G
c.2250C>G (p.Tyr750Ter)
c.2463C>G (p.Tyr821Ter)
c.1062C>G (p.Tyr354Ter)
c.1044C>G (p.Tyr348Ter)
n.2583C>G
 gnomAD v4
22g.19972979G=CA2396130928ARVCFc.2496C= (p.Tyr832=)
c.2307C= (p.Tyr769=)
c.2478C= (p.Tyr826=)
c.2289C= (p.Tyr763=)
n.1418C=
c.2250C= (p.Tyr750=)
c.2463C= (p.Tyr821=)
c.1062C= (p.Tyr354=)
c.1044C= (p.Tyr348=)
n.2583C=
22g.19972979G>TCA410694704ARVCFc.2496C>A (p.Tyr832Ter)
c.2307C>A (p.Tyr769Ter)
c.2478C>A (p.Tyr826Ter)
c.2289C>A (p.Tyr763Ter)
n.1418C>A
c.2250C>A (p.Tyr750Ter)
c.2463C>A (p.Tyr821Ter)
c.1062C>A (p.Tyr354Ter)
c.1044C>A (p.Tyr348Ter)
n.2583C>A
22g.19972979_19972980insCACCA10105087ARVCFc.2495_2496insGTG (p.Tyr832Ter)
c.2306_2307insGTG (p.Tyr769Ter)
c.2477_2478insGTG (p.Tyr826Ter)
c.2288_2289insGTG (p.Tyr763Ter)
n.1417_1418insGTG
c.2249_2250insGTG (p.Tyr750Ter)
c.2462_2463insGTG (p.Tyr821Ter)
c.1061_1062insGTG (p.Tyr354Ter)
c.1043_1044insGTG (p.Tyr348Ter)
n.2582_2583insGTG
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972980T>ACA410694705ARVCFc.2495A>T (p.Tyr832Phe)
c.2306A>T (p.Tyr769Phe)
c.2477A>T (p.Tyr826Phe)
c.2288A>T (p.Tyr763Phe)
n.1417A>T
c.2249A>T (p.Tyr750Phe)
c.2462A>T (p.Tyr821Phe)
c.1061A>T (p.Tyr354Phe)
c.1043A>T (p.Tyr348Phe)
n.2582A>T
22g.19972980T>CCA10105088ARVCFc.2495A>G (p.Tyr832Cys)
c.2306A>G (p.Tyr769Cys)
c.2477A>G (p.Tyr826Cys)
c.2288A>G (p.Tyr763Cys)
n.1417A>G
c.2249A>G (p.Tyr750Cys)
c.2462A>G (p.Tyr821Cys)
c.1061A>G (p.Tyr354Cys)
c.1043A>G (p.Tyr348Cys)
n.2582A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972980T>GCA10105089ARVCFc.2495A>C (p.Tyr832Ser)
c.2306A>C (p.Tyr769Ser)
c.2477A>C (p.Tyr826Ser)
c.2288A>C (p.Tyr763Ser)
n.1417A>C
c.2249A>C (p.Tyr750Ser)
c.2462A>C (p.Tyr821Ser)
c.1061A>C (p.Tyr354Ser)
c.1043A>C (p.Tyr348Ser)
n.2582A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972980T=CA2396130929ARVCFc.2495A= (p.Tyr832=)
c.2306A= (p.Tyr769=)
c.2477A= (p.Tyr826=)
c.2288A= (p.Tyr763=)
n.1417A=
c.2249A= (p.Tyr750=)
c.2462A= (p.Tyr821=)
c.1061A= (p.Tyr354=)
c.1043A= (p.Tyr348=)
n.2582A=
22g.19972981A=CA2396130931ARVCFc.2494T= (p.Tyr832=)
c.2305T= (p.Tyr769=)
c.2476T= (p.Tyr826=)
c.2287T= (p.Tyr763=)
n.1416T=
c.2248T= (p.Tyr750=)
c.2461T= (p.Tyr821=)
c.1060T= (p.Tyr354=)
c.1042T= (p.Tyr348=)
n.2581T=
22g.19972981A>CCA410694709ARVCFc.2494T>G (p.Tyr832Asp)
c.2305T>G (p.Tyr769Asp)
c.2476T>G (p.Tyr826Asp)
c.2287T>G (p.Tyr763Asp)
n.1416T>G
c.2248T>G (p.Tyr750Asp)
c.2461T>G (p.Tyr821Asp)
c.1060T>G (p.Tyr354Asp)
c.1042T>G (p.Tyr348Asp)
n.2581T>G
22g.19972981A>GCA410694710ARVCFc.2494T>C (p.Tyr832His)
c.2305T>C (p.Tyr769His)
c.2476T>C (p.Tyr826His)
c.2287T>C (p.Tyr763His)
n.1416T>C
c.2248T>C (p.Tyr750His)
c.2461T>C (p.Tyr821His)
c.1060T>C (p.Tyr354His)
c.1042T>C (p.Tyr348His)
n.2581T>C
 dbSNP gnomAD v4
22g.19972981A>TCA410694712ARVCFc.2494T>A (p.Tyr832Asn)
c.2305T>A (p.Tyr769Asn)
c.2476T>A (p.Tyr826Asn)
c.2287T>A (p.Tyr763Asn)
n.1416T>A
c.2248T>A (p.Tyr750Asn)
c.2461T>A (p.Tyr821Asn)
c.1060T>A (p.Tyr354Asn)
c.1042T>A (p.Tyr348Asn)
n.2581T>A
22g.19972984_19973000dupCA2396130930ARVCFc.2478_2494dup (p.Tyr832CysfsTer?)
c.2289_2305dup (p.Tyr769CysfsTer?)
c.2460_2476dup (p.Tyr826CysfsTer?)
c.2271_2287dup (p.Tyr763CysfsTer?)
n.1400_1416dup
c.2232_2248dup (p.Tyr750CysfsTer?)
c.2445_2461dup (p.Tyr821CysfsTer?)
c.1044_1060dup (p.Tyr354CysfsTer?)
c.1026_1042dup (p.Tyr348CysfsTer?)
n.2565_2581dup
 dbSNP
22g.19972982G>ACA513689012ARVCFc.2493C>T (p.Ser831=)
c.2304C>T (p.Ser768=)
c.2475C>T (p.Ser825=)
c.2286C>T (p.Ser762=)
n.1415C>T
c.2247C>T (p.Ser749=)
c.2460C>T (p.Ser820=)
c.1059C>T (p.Ser353=)
c.1041C>T (p.Ser347=)
n.2580C>T
 dbSNP
22g.19972982G>CCA10105090ARVCFc.2493C>G (p.Ser831Arg)
c.2304C>G (p.Ser768Arg)
c.2475C>G (p.Ser825Arg)
c.2286C>G (p.Ser762Arg)
n.1415C>G
c.2247C>G (p.Ser749Arg)
c.2460C>G (p.Ser820Arg)
c.1059C>G (p.Ser353Arg)
c.1041C>G (p.Ser347Arg)
n.2580C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972982G=CA2396130932ARVCFc.2493C= (p.Ser831=)
c.2304C= (p.Ser768=)
c.2475C= (p.Ser825=)
c.2286C= (p.Ser762=)
n.1415C=
c.2247C= (p.Ser749=)
c.2460C= (p.Ser820=)
c.1059C= (p.Ser353=)
c.1041C= (p.Ser347=)
n.2580C=
22g.19972982G>TCA410694715ARVCFc.2493C>A (p.Ser831Arg)
c.2304C>A (p.Ser768Arg)
c.2475C>A (p.Ser825Arg)
c.2286C>A (p.Ser762Arg)
n.1415C>A
c.2247C>A (p.Ser749Arg)
c.2460C>A (p.Ser820Arg)
c.1059C>A (p.Ser353Arg)
c.1041C>A (p.Ser347Arg)
n.2580C>A
22g.19972983C>ACA410694717ARVCFc.2492G>T (p.Ser831Ile)
c.2303G>T (p.Ser768Ile)
c.2474G>T (p.Ser825Ile)
c.2285G>T (p.Ser762Ile)
n.1414G>T
c.2246G>T (p.Ser749Ile)
c.2459G>T (p.Ser820Ile)
c.1058G>T (p.Ser353Ile)
c.1040G>T (p.Ser347Ile)
n.2579G>T
22g.19972983C=CA2396130933ARVCFc.2492G= (p.Ser831=)
c.2303G= (p.Ser768=)
c.2474G= (p.Ser825=)
c.2285G= (p.Ser762=)
n.1414G=
c.2246G= (p.Ser749=)
c.2459G= (p.Ser820=)
c.1058G= (p.Ser353=)
c.1040G= (p.Ser347=)
n.2579G=
22g.19972983C>GCA410694719ARVCFc.2492G>C (p.Ser831Thr)
c.2303G>C (p.Ser768Thr)
c.2474G>C (p.Ser825Thr)
c.2285G>C (p.Ser762Thr)
n.1414G>C
c.2246G>C (p.Ser749Thr)
c.2459G>C (p.Ser820Thr)
c.1058G>C (p.Ser353Thr)
c.1040G>C (p.Ser347Thr)
n.2579G>C
 gnomAD v4
22g.19972983C>TCA410694721ARVCFc.2492G>A (p.Ser831Asn)
c.2303G>A (p.Ser768Asn)
c.2474G>A (p.Ser825Asn)
c.2285G>A (p.Ser762Asn)
n.1414G>A
c.2246G>A (p.Ser749Asn)
c.2459G>A (p.Ser820Asn)
c.1058G>A (p.Ser353Asn)
c.1040G>A (p.Ser347Asn)
n.2579G>A
22g.19972984T>ACA410694726ARVCFc.2491A>T (p.Ser831Cys)
c.2302A>T (p.Ser768Cys)
c.2473A>T (p.Ser825Cys)
c.2284A>T (p.Ser762Cys)
n.1413A>T
c.2245A>T (p.Ser749Cys)
c.2458A>T (p.Ser820Cys)
c.1057A>T (p.Ser353Cys)
c.1039A>T (p.Ser347Cys)
n.2578A>T
22g.19972984T>CCA410694728ARVCFc.2491A>G (p.Ser831Gly)
c.2302A>G (p.Ser768Gly)
c.2473A>G (p.Ser825Gly)
c.2284A>G (p.Ser762Gly)
n.1413A>G
c.2245A>G (p.Ser749Gly)
c.2458A>G (p.Ser820Gly)
c.1057A>G (p.Ser353Gly)
c.1039A>G (p.Ser347Gly)
n.2578A>G
22g.19972984T>GCA410694730ARVCFc.2491A>C (p.Ser831Arg)
c.2302A>C (p.Ser768Arg)
c.2473A>C (p.Ser825Arg)
c.2284A>C (p.Ser762Arg)
n.1413A>C
c.2245A>C (p.Ser749Arg)
c.2458A>C (p.Ser820Arg)
c.1057A>C (p.Ser353Arg)
c.1039A>C (p.Ser347Arg)
n.2578A>C
 gnomAD v4
22g.19972984_19972985insGGACACTGTGGACAGTGGTCA10105091ARVCFc.2491_2492insCCACTGTCCACAGTGTCCA (p.Ser831ThrfsTer36)
c.2302_2303insCCACTGTCCACAGTGTCCA (p.Ser768ThrfsTer36)
c.2473_2474insCCACTGTCCACAGTGTCCA (p.Ser825ThrfsTer36)
c.2284_2285insCCACTGTCCACAGTGTCCA (p.Ser762ThrfsTer36)
n.1413_1414insCCACTGTCCACAGTGTCCA
c.2245_2246insCCACTGTCCACAGTGTCCA (p.Ser749ThrfsTer36)
c.2458_2459insCCACTGTCCACAGTGTCCA (p.Ser820ThrfsTer36)
c.1057_1058insCCACTGTCCACAGTGTCCA (p.Ser353ThrfsTer36)
c.1039_1040insCCACTGTCCACAGTGTCCA (p.Ser347ThrfsTer36)
n.2578_2579insCCACTGTCCACAGTGTCCA
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972985C>ACA410694734ARVCFc.2490G>T (p.Trp830Cys)
c.2301G>T (p.Trp767Cys)
c.2472G>T (p.Trp824Cys)
c.2283G>T (p.Trp761Cys)
n.1412G>T
c.2244G>T (p.Trp748Cys)
c.2457G>T (p.Trp819Cys)
c.1056G>T (p.Trp352Cys)
c.1038G>T (p.Trp346Cys)
n.2577G>T
22g.19972985C>GCA410694736ARVCFc.2490G>C (p.Trp830Cys)
c.2301G>C (p.Trp767Cys)
c.2472G>C (p.Trp824Cys)
c.2283G>C (p.Trp761Cys)
n.1412G>C
c.2244G>C (p.Trp748Cys)
c.2457G>C (p.Trp819Cys)
c.1056G>C (p.Trp352Cys)
c.1038G>C (p.Trp346Cys)
n.2577G>C
22g.19972985C>TCA410694733ARVCFc.2490G>A (p.Trp830Ter)
c.2301G>A (p.Trp767Ter)
c.2472G>A (p.Trp824Ter)
c.2283G>A (p.Trp761Ter)
n.1412G>A
c.2244G>A (p.Trp748Ter)
c.2457G>A (p.Trp819Ter)
c.1056G>A (p.Trp352Ter)
c.1038G>A (p.Trp346Ter)
n.2577G>A
22g.19972986C>ACA410694738ARVCFc.2489G>T (p.Trp830Leu)
c.2300G>T (p.Trp767Leu)
c.2471G>T (p.Trp824Leu)
c.2282G>T (p.Trp761Leu)
n.1411G>T
c.2243G>T (p.Trp748Leu)
c.2456G>T (p.Trp819Leu)
c.1055G>T (p.Trp352Leu)
c.1037G>T (p.Trp346Leu)
n.2576G>T
22g.19972986C>GCA410694742ARVCFc.2489G>C (p.Trp830Ser)
c.2300G>C (p.Trp767Ser)
c.2471G>C (p.Trp824Ser)
c.2282G>C (p.Trp761Ser)
n.1411G>C
c.2243G>C (p.Trp748Ser)
c.2456G>C (p.Trp819Ser)
c.1055G>C (p.Trp352Ser)
c.1037G>C (p.Trp346Ser)
n.2576G>C
22g.19972986C>TCA410694740ARVCFc.2489G>A (p.Trp830Ter)
c.2300G>A (p.Trp767Ter)
c.2471G>A (p.Trp824Ter)
c.2282G>A (p.Trp761Ter)
n.1411G>A
c.2243G>A (p.Trp748Ter)
c.2456G>A (p.Trp819Ter)
c.1055G>A (p.Trp352Ter)
c.1037G>A (p.Trp346Ter)
n.2576G>A
 gnomAD v4
22g.19972989_19972990delCA2655342622ARVCFc.2488_2489del (p.Trp830GlufsTer30)
c.2299_2300del (p.Trp767GlufsTer30)
c.2470_2471del (p.Trp824GlufsTer30)
c.2281_2282del (p.Trp761GlufsTer30)
n.1410_1411del
c.2242_2243del (p.Trp748GlufsTer30)
c.2455_2456del (p.Trp819GlufsTer30)
c.1054_1055del (p.Trp352GlufsTer30)
c.1036_1037del (p.Trp346GlufsTer30)
n.2575_2576del
 gnomAD v4
22g.19972987A>CCA410694744ARVCFc.2488T>G (p.Trp830Gly)
c.2299T>G (p.Trp767Gly)
c.2470T>G (p.Trp824Gly)
c.2281T>G (p.Trp761Gly)
n.1410T>G
c.2242T>G (p.Trp748Gly)
c.2455T>G (p.Trp819Gly)
c.1054T>G (p.Trp352Gly)
c.1036T>G (p.Trp346Gly)
n.2575T>G
22g.19972987A>GCA410694746ARVCFc.2488T>C (p.Trp830Arg)
c.2299T>C (p.Trp767Arg)
c.2470T>C (p.Trp824Arg)
c.2281T>C (p.Trp761Arg)
n.1410T>C
c.2242T>C (p.Trp748Arg)
c.2455T>C (p.Trp819Arg)
c.1054T>C (p.Trp352Arg)
c.1036T>C (p.Trp346Arg)
n.2575T>C
 gnomAD v4
22g.19972987A>TCA410694747ARVCFc.2488T>A (p.Trp830Arg)
c.2299T>A (p.Trp767Arg)
c.2470T>A (p.Trp824Arg)
c.2281T>A (p.Trp761Arg)
n.1410T>A
c.2242T>A (p.Trp748Arg)
c.2455T>A (p.Trp819Arg)
c.1054T>A (p.Trp352Arg)
c.1036T>A (p.Trp346Arg)
n.2575T>A
22g.19972988C>ACA513689034ARVCFc.2487G>T (p.Val829=)
c.2298G>T (p.Val766=)
c.2469G>T (p.Val823=)
c.2280G>T (p.Val760=)
n.1409G>T
c.2241G>T (p.Val747=)
c.2454G>T (p.Val818=)
c.1053G>T (p.Val351=)
c.1035G>T (p.Val345=)
n.2574G>T
22g.19972988C>GCA513689036ARVCFc.2487G>C (p.Val829=)
c.2298G>C (p.Val766=)
c.2469G>C (p.Val823=)
c.2280G>C (p.Val760=)
n.1409G>C
c.2241G>C (p.Val747=)
c.2454G>C (p.Val818=)
c.1053G>C (p.Val351=)
c.1035G>C (p.Val345=)
n.2574G>C
22g.19972988C>TCA513689037ARVCFc.2487G>A (p.Val829=)
c.2298G>A (p.Val766=)
c.2469G>A (p.Val823=)
c.2280G>A (p.Val760=)
n.1409G>A
c.2241G>A (p.Val747=)
c.2454G>A (p.Val818=)
c.1053G>A (p.Val351=)
c.1035G>A (p.Val345=)
n.2574G>A
22g.19972989A=CA2396130934ARVCFc.2486T= (p.Val829=)
c.2297T= (p.Val766=)
c.2468T= (p.Val823=)
c.2279T= (p.Val760=)
n.1408T=
c.2240T= (p.Val747=)
c.2453T= (p.Val818=)
c.1052T= (p.Val351=)
c.1034T= (p.Val345=)
n.2573T=
22g.19972989A>CCA410694749ARVCFc.2486T>G (p.Val829Gly)
c.2297T>G (p.Val766Gly)
c.2468T>G (p.Val823Gly)
c.2279T>G (p.Val760Gly)
n.1408T>G
c.2240T>G (p.Val747Gly)
c.2453T>G (p.Val818Gly)
c.1052T>G (p.Val351Gly)
c.1034T>G (p.Val345Gly)
n.2573T>G
 gnomAD v4
22g.19972989A>GCA10105092ARVCFc.2486T>C (p.Val829Ala)
c.2297T>C (p.Val766Ala)
c.2468T>C (p.Val823Ala)
c.2279T>C (p.Val760Ala)
n.1408T>C
c.2240T>C (p.Val747Ala)
c.2453T>C (p.Val818Ala)
c.1052T>C (p.Val351Ala)
c.1034T>C (p.Val345Ala)
n.2573T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972989A>TCA410694751ARVCFc.2486T>A (p.Val829Glu)
c.2297T>A (p.Val766Glu)
c.2468T>A (p.Val823Glu)
c.2279T>A (p.Val760Glu)
n.1408T>A
c.2240T>A (p.Val747Glu)
c.2453T>A (p.Val818Glu)
c.1052T>A (p.Val351Glu)
c.1034T>A (p.Val345Glu)
n.2573T>A
22g.19972989_19972991delinsACTCA2396130935ARVCFc.2484_2486delinsAGT (p.Thr828=)
c.2295_2297delinsAGT (p.Thr765=)
c.2466_2468delinsAGT (p.Thr822=)
c.2277_2279delinsAGT (p.Thr759=)
n.1406_1408delinsAGT
c.2238_2240delinsAGT (p.Thr746=)
c.2451_2453delinsAGT (p.Thr817=)
c.1050_1052delinsAGT (p.Thr350=)
c.1032_1034delinsAGT (p.Thr344=)
n.2571_2573delinsAGT
22g.19972990C>ACA410694754ARVCFc.2485G>T (p.Val829Leu)
c.2296G>T (p.Val766Leu)
c.2467G>T (p.Val823Leu)
c.2278G>T (p.Val760Leu)
n.1407G>T
c.2239G>T (p.Val747Leu)
c.2452G>T (p.Val818Leu)
c.1051G>T (p.Val351Leu)
c.1033G>T (p.Val345Leu)
n.2572G>T
22g.19972990C=CA2396130936ARVCFc.2485G= (p.Val829=)
c.2296G= (p.Val766=)
c.2467G= (p.Val823=)
c.2278G= (p.Val760=)
n.1407G=
c.2239G= (p.Val747=)
c.2452G= (p.Val818=)
c.1051G= (p.Val351=)
c.1033G= (p.Val345=)
n.2572G=
22g.19972990C>GCA410694757ARVCFc.2485G>C (p.Val829Leu)
c.2296G>C (p.Val766Leu)
c.2467G>C (p.Val823Leu)
c.2278G>C (p.Val760Leu)
n.1407G>C
c.2239G>C (p.Val747Leu)
c.2452G>C (p.Val818Leu)
c.1051G>C (p.Val351Leu)
c.1033G>C (p.Val345Leu)
n.2572G>C
 dbSNP gnomAD v2
22g.19972990C>TCA410694759ARVCFc.2485G>A (p.Val829Met)
c.2296G>A (p.Val766Met)
c.2467G>A (p.Val823Met)
c.2278G>A (p.Val760Met)
n.1407G>A
c.2239G>A (p.Val747Met)
c.2452G>A (p.Val818Met)
c.1051G>A (p.Val351Met)
c.1033G>A (p.Val345Met)
n.2572G>A
 COSMIC
22g.19972990_19972991delCA10105093ARVCFc.2484_2485del (p.Trp830GlufsTer?)
c.2295_2296del (p.Trp767GlufsTer?)
c.2466_2467del (p.Trp824GlufsTer?)
c.2277_2278del (p.Trp761GlufsTer?)
n.1406_1407del
c.2238_2239del (p.Trp748GlufsTer?)
c.2451_2452del (p.Trp819GlufsTer?)
c.1050_1051del (p.Trp352GlufsTer?)
c.1032_1033del (p.Trp346GlufsTer?)
n.2571_2572del
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972991T>ACA10105094ARVCFc.2484A>T (p.Thr828=)
c.2295A>T (p.Thr765=)
c.2466A>T (p.Thr822=)
c.2277A>T (p.Thr759=)
n.1406A>T
c.2238A>T (p.Thr746=)
c.2451A>T (p.Thr817=)
c.1050A>T (p.Thr350=)
c.1032A>T (p.Thr344=)
n.2571A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972991T>CCA513689049ARVCFc.2484A>G (p.Thr828=)
c.2295A>G (p.Thr765=)
c.2466A>G (p.Thr822=)
c.2277A>G (p.Thr759=)
n.1406A>G
c.2238A>G (p.Thr746=)
c.2451A>G (p.Thr817=)
c.1050A>G (p.Thr350=)
c.1032A>G (p.Thr344=)
n.2571A>G
 dbSNP
22g.19972991T>GCA513689050ARVCFc.2484A>C (p.Thr828=)
c.2295A>C (p.Thr765=)
c.2466A>C (p.Thr822=)
c.2277A>C (p.Thr759=)
n.1406A>C
c.2238A>C (p.Thr746=)
c.2451A>C (p.Thr817=)
c.1050A>C (p.Thr350=)
c.1032A>C (p.Thr344=)
n.2571A>C
22g.19972991T=CA2396130937ARVCFc.2484A= (p.Thr828=)
c.2295A= (p.Thr765=)
c.2466A= (p.Thr822=)
c.2277A= (p.Thr759=)
n.1406A=
c.2238A= (p.Thr746=)
c.2451A= (p.Thr817=)
c.1050A= (p.Thr350=)
c.1032A= (p.Thr344=)
n.2571A=
22g.19972992G>ACA10105095ARVCFc.2483C>T (p.Thr828Ile)
c.2294C>T (p.Thr765Ile)
c.2465C>T (p.Thr822Ile)
c.2276C>T (p.Thr759Ile)
n.1405C>T
c.2237C>T (p.Thr746Ile)
c.2450C>T (p.Thr817Ile)
c.1049C>T (p.Thr350Ile)
c.1031C>T (p.Thr344Ile)
n.2570C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972992G>CCA410694762ARVCFc.2483C>G (p.Thr828Arg)
c.2294C>G (p.Thr765Arg)
c.2465C>G (p.Thr822Arg)
c.2276C>G (p.Thr759Arg)
n.1405C>G
c.2237C>G (p.Thr746Arg)
c.2450C>G (p.Thr817Arg)
c.1049C>G (p.Thr350Arg)
c.1031C>G (p.Thr344Arg)
n.2570C>G
22g.19972992G=CA2396130938ARVCFc.2483C= (p.Thr828=)
c.2294C= (p.Thr765=)
c.2465C= (p.Thr822=)
c.2276C= (p.Thr759=)
n.1405C=
c.2237C= (p.Thr746=)
c.2450C= (p.Thr817=)
c.1049C= (p.Thr350=)
c.1031C= (p.Thr344=)
n.2570C=
22g.19972992G>TCA410694764ARVCFc.2483C>A (p.Thr828Lys)
c.2294C>A (p.Thr765Lys)
c.2465C>A (p.Thr822Lys)
c.2276C>A (p.Thr759Lys)
n.1405C>A
c.2237C>A (p.Thr746Lys)
c.2450C>A (p.Thr817Lys)
c.1049C>A (p.Thr350Lys)
c.1031C>A (p.Thr344Lys)
n.2570C>A
22g.19972993T>ACA410694767ARVCFc.2482A>T (p.Thr828Ser)
c.2293A>T (p.Thr765Ser)
c.2464A>T (p.Thr822Ser)
c.2275A>T (p.Thr759Ser)
n.1404A>T
c.2236A>T (p.Thr746Ser)
c.2449A>T (p.Thr817Ser)
c.1048A>T (p.Thr350Ser)
c.1030A>T (p.Thr344Ser)
n.2569A>T
 gnomAD v4
22g.19972993T>CCA410694769ARVCFc.2482A>G (p.Thr828Ala)
c.2293A>G (p.Thr765Ala)
c.2464A>G (p.Thr822Ala)
c.2275A>G (p.Thr759Ala)
n.1404A>G
c.2236A>G (p.Thr746Ala)
c.2449A>G (p.Thr817Ala)
c.1048A>G (p.Thr350Ala)
c.1030A>G (p.Thr344Ala)
n.2569A>G
22g.19972993T>GCA410694771ARVCFc.2482A>C (p.Thr828Pro)
c.2293A>C (p.Thr765Pro)
c.2464A>C (p.Thr822Pro)
c.2275A>C (p.Thr759Pro)
n.1404A>C
c.2236A>C (p.Thr746Pro)
c.2449A>C (p.Thr817Pro)
c.1048A>C (p.Thr350Pro)
c.1030A>C (p.Thr344Pro)
n.2569A>C
22g.19972994C>ACA410694773ARVCFc.2481G>T (p.Gln827His)
c.2292G>T (p.Gln764His)
c.2463G>T (p.Gln821His)
c.2274G>T (p.Gln758His)
n.1403G>T
c.2235G>T (p.Gln745His)
c.2448G>T (p.Gln816His)
c.1047G>T (p.Gln349His)
c.1029G>T (p.Gln343His)
n.2568G>T
22g.19972994C=CA2396130939ARVCFc.2481G= (p.Gln827=)
c.2292G= (p.Gln764=)
c.2463G= (p.Gln821=)
c.2274G= (p.Gln758=)
n.1403G=
c.2235G= (p.Gln745=)
c.2448G= (p.Gln816=)
c.1047G= (p.Gln349=)
c.1029G= (p.Gln343=)
n.2568G=
22g.19972994C>GCA410694774ARVCFc.2481G>C (p.Gln827His)
c.2292G>C (p.Gln764His)
c.2463G>C (p.Gln821His)
c.2274G>C (p.Gln758His)
n.1403G>C
c.2235G>C (p.Gln745His)
c.2448G>C (p.Gln816His)
c.1047G>C (p.Gln349His)
c.1029G>C (p.Gln343His)
n.2568G>C
 gnomAD v4
22g.19972994C>TCA513689061ARVCFc.2481G>A (p.Gln827=)
c.2292G>A (p.Gln764=)
c.2463G>A (p.Gln821=)
c.2274G>A (p.Gln758=)
n.1403G>A
c.2235G>A (p.Gln745=)
c.2448G>A (p.Gln816=)
c.1047G>A (p.Gln349=)
c.1029G>A (p.Gln343=)
n.2568G>A
 dbSNP
22g.19972995T>ACA410694777ARVCFc.2480A>T (p.Gln827Leu)
c.2291A>T (p.Gln764Leu)
c.2462A>T (p.Gln821Leu)
c.2273A>T (p.Gln758Leu)
n.1402A>T
c.2234A>T (p.Gln745Leu)
c.2447A>T (p.Gln816Leu)
c.1046A>T (p.Gln349Leu)
c.1028A>T (p.Gln343Leu)
n.2567A>T
22g.19972995T>CCA410694778ARVCFc.2480A>G (p.Gln827Arg)
c.2291A>G (p.Gln764Arg)
c.2462A>G (p.Gln821Arg)
c.2273A>G (p.Gln758Arg)
n.1402A>G
c.2234A>G (p.Gln745Arg)
c.2447A>G (p.Gln816Arg)
c.1046A>G (p.Gln349Arg)
c.1028A>G (p.Gln343Arg)
n.2567A>G
 dbSNP gnomAD v4
22g.19972995T>GCA410694780ARVCFc.2480A>C (p.Gln827Pro)
c.2291A>C (p.Gln764Pro)
c.2462A>C (p.Gln821Pro)
c.2273A>C (p.Gln758Pro)
n.1402A>C
c.2234A>C (p.Gln745Pro)
c.2447A>C (p.Gln816Pro)
c.1046A>C (p.Gln349Pro)
c.1028A>C (p.Gln343Pro)
n.2567A>C
 dbSNP gnomAD v4
22g.19972995T=CA2396130940ARVCFc.2480A= (p.Gln827=)
c.2291A= (p.Gln764=)
c.2462A= (p.Gln821=)
c.2273A= (p.Gln758=)
n.1402A=
c.2234A= (p.Gln745=)
c.2447A= (p.Gln816=)
c.1046A= (p.Gln349=)
c.1028A= (p.Gln343=)
n.2567A=
22g.19972996G>ACA410694782ARVCFc.2479C>T (p.Gln827Ter)
c.2290C>T (p.Gln764Ter)
c.2461C>T (p.Gln821Ter)
c.2272C>T (p.Gln758Ter)
n.1401C>T
c.2233C>T (p.Gln745Ter)
c.2446C>T (p.Gln816Ter)
c.1045C>T (p.Gln349Ter)
c.1027C>T (p.Gln343Ter)
n.2566C>T
22g.19972996G>CCA410694784ARVCFc.2479C>G (p.Gln827Glu)
c.2290C>G (p.Gln764Glu)
c.2461C>G (p.Gln821Glu)
c.2272C>G (p.Gln758Glu)
n.1401C>G
c.2233C>G (p.Gln745Glu)
c.2446C>G (p.Gln816Glu)
c.1045C>G (p.Gln349Glu)
c.1027C>G (p.Gln343Glu)
n.2566C>G
22g.19972996G>TCA410694787ARVCFc.2479C>A (p.Gln827Lys)
c.2290C>A (p.Gln764Lys)
c.2461C>A (p.Gln821Lys)
c.2272C>A (p.Gln758Lys)
n.1401C>A
c.2233C>A (p.Gln745Lys)
c.2446C>A (p.Gln816Lys)
c.1045C>A (p.Gln349Lys)
c.1027C>A (p.Gln343Lys)
n.2566C>A
22g.19972997C>ACA513689068ARVCFc.2478G>T (p.Leu826=)
c.2289G>T (p.Leu763=)
c.2460G>T (p.Leu820=)
c.2271G>T (p.Leu757=)
n.1400G>T
c.2232G>T (p.Leu744=)
c.2445G>T (p.Leu815=)
c.1044G>T (p.Leu348=)
c.1026G>T (p.Leu342=)
n.2565G>T
22g.19972997C=CA2396130941ARVCFc.2478G= (p.Leu826=)
c.2289G= (p.Leu763=)
c.2460G= (p.Leu820=)
c.2271G= (p.Leu757=)
n.1400G=
c.2232G= (p.Leu744=)
c.2445G= (p.Leu815=)
c.1044G= (p.Leu348=)
c.1026G= (p.Leu342=)
n.2565G=
22g.19972997C>GCA513689069ARVCFc.2478G>C (p.Leu826=)
c.2289G>C (p.Leu763=)
c.2460G>C (p.Leu820=)
c.2271G>C (p.Leu757=)
n.1400G>C
c.2232G>C (p.Leu744=)
c.2445G>C (p.Leu815=)
c.1044G>C (p.Leu348=)
c.1026G>C (p.Leu342=)
n.2565G>C
22g.19972997C>TCA513689067ARVCFc.2478G>A (p.Leu826=)
c.2289G>A (p.Leu763=)
c.2460G>A (p.Leu820=)
c.2271G>A (p.Leu757=)
n.1400G>A
c.2232G>A (p.Leu744=)
c.2445G>A (p.Leu815=)
c.1044G>A (p.Leu348=)
c.1026G>A (p.Leu342=)
n.2565G>A
 dbSNP gnomAD v2 gnomAD v4
22g.19972998A=CA2396130942ARVCFc.2477T= (p.Leu826=)
c.2288T= (p.Leu763=)
c.2459T= (p.Leu820=)
c.2270T= (p.Leu757=)
n.1399T=
c.2231T= (p.Leu744=)
c.2444T= (p.Leu815=)
c.1043T= (p.Leu348=)
c.1025T= (p.Leu342=)
n.2564T=
22g.19972998A>CCA410694791ARVCFc.2477T>G (p.Leu826Arg)
c.2288T>G (p.Leu763Arg)
c.2459T>G (p.Leu820Arg)
c.2270T>G (p.Leu757Arg)
n.1399T>G
c.2231T>G (p.Leu744Arg)
c.2444T>G (p.Leu815Arg)
c.1043T>G (p.Leu348Arg)
c.1025T>G (p.Leu342Arg)
n.2564T>G
22g.19972998A>GCA410694792ARVCFc.2477T>C (p.Leu826Pro)
c.2288T>C (p.Leu763Pro)
c.2459T>C (p.Leu820Pro)
c.2270T>C (p.Leu757Pro)
n.1399T>C
c.2231T>C (p.Leu744Pro)
c.2444T>C (p.Leu815Pro)
c.1043T>C (p.Leu348Pro)
c.1025T>C (p.Leu342Pro)
n.2564T>C
 dbSNP gnomAD v4
22g.19972998A>TCA410694789ARVCFc.2477T>A (p.Leu826Gln)
c.2288T>A (p.Leu763Gln)
c.2459T>A (p.Leu820Gln)
c.2270T>A (p.Leu757Gln)
n.1399T>A
c.2231T>A (p.Leu744Gln)
c.2444T>A (p.Leu815Gln)
c.1043T>A (p.Leu348Gln)
c.1025T>A (p.Leu342Gln)
n.2564T>A
22g.19972999G>ACA10105096ARVCFc.2476C>T (p.Leu826=)
c.2287C>T (p.Leu763=)
c.2458C>T (p.Leu820=)
c.2269C>T (p.Leu757=)
n.1398C>T
c.2230C>T (p.Leu744=)
c.2443C>T (p.Leu815=)
c.1042C>T (p.Leu348=)
c.1024C>T (p.Leu342=)
n.2563C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972999G>CCA10105097ARVCFc.2476C>G (p.Leu826Val)
c.2287C>G (p.Leu763Val)
c.2458C>G (p.Leu820Val)
c.2269C>G (p.Leu757Val)
n.1398C>G
c.2230C>G (p.Leu744Val)
c.2443C>G (p.Leu815Val)
c.1042C>G (p.Leu348Val)
c.1024C>G (p.Leu342Val)
n.2563C>G
 ClinVar dbSNP ExAC gnomAD v2
22g.19972999G=CA2396130943ARVCFc.2476C= (p.Leu826=)
c.2287C= (p.Leu763=)
c.2458C= (p.Leu820=)
c.2269C= (p.Leu757=)
n.1398C=
c.2230C= (p.Leu744=)
c.2443C= (p.Leu815=)
c.1042C= (p.Leu348=)
c.1024C= (p.Leu342=)
n.2563C=
22g.19972999G>TCA410694797ARVCFc.2476C>A (p.Leu826Met)
c.2287C>A (p.Leu763Met)
c.2458C>A (p.Leu820Met)
c.2269C>A (p.Leu757Met)
n.1398C>A
c.2230C>A (p.Leu744Met)
c.2443C>A (p.Leu815Met)
c.1042C>A (p.Leu348Met)
c.1024C>A (p.Leu342Met)
n.2563C>A
 dbSNP gnomAD v3 gnomAD v4
22g.19973000C>ACA513689078ARVCFc.2475G>T (p.Val825=)
c.2286G>T (p.Val762=)
c.2457G>T (p.Val819=)
c.2268G>T (p.Val756=)
n.1397G>T
c.2229G>T (p.Val743=)
c.2442G>T (p.Val814=)
c.1041G>T (p.Val347=)
c.1023G>T (p.Val341=)
n.2562G>T
22g.19973000C=CA2396130944ARVCFc.2475G= (p.Val825=)
c.2286G= (p.Val762=)
c.2457G= (p.Val819=)
c.2268G= (p.Val756=)
n.1397G=
c.2229G= (p.Val743=)
c.2442G= (p.Val814=)
c.1041G= (p.Val347=)
c.1023G= (p.Val341=)
n.2562G=
22g.19973000C>GCA513689080ARVCFc.2475G>C (p.Val825=)
c.2286G>C (p.Val762=)
c.2457G>C (p.Val819=)
c.2268G>C (p.Val756=)
n.1397G>C
c.2229G>C (p.Val743=)
c.2442G>C (p.Val814=)
c.1041G>C (p.Val347=)
c.1023G>C (p.Val341=)
n.2562G>C
 dbSNP gnomAD v3 gnomAD v4
22g.19973000C>TCA513689082ARVCFc.2475G>A (p.Val825=)
c.2286G>A (p.Val762=)
c.2457G>A (p.Val819=)
c.2268G>A (p.Val756=)
n.1397G>A
c.2229G>A (p.Val743=)
c.2442G>A (p.Val814=)
c.1041G>A (p.Val347=)
c.1023G>A (p.Val341=)
n.2562G>A
 gnomAD v4
22g.19973001A>CCA410694799ARVCFc.2474T>G (p.Val825Gly)
c.2285T>G (p.Val762Gly)
c.2456T>G (p.Val819Gly)
c.2267T>G (p.Val756Gly)
n.1396T>G
c.2228T>G (p.Val743Gly)
c.2441T>G (p.Val814Gly)
c.1040T>G (p.Val347Gly)
c.1022T>G (p.Val341Gly)
n.2561T>G
 gnomAD v4
22g.19973001A>GCA410694801ARVCFc.2474T>C (p.Val825Ala)
c.2285T>C (p.Val762Ala)
c.2456T>C (p.Val819Ala)
c.2267T>C (p.Val756Ala)
n.1396T>C
c.2228T>C (p.Val743Ala)
c.2441T>C (p.Val814Ala)
c.1040T>C (p.Val347Ala)
c.1022T>C (p.Val341Ala)
n.2561T>C
22g.19973001A>TCA410694803ARVCFc.2474T>A (p.Val825Glu)
c.2285T>A (p.Val762Glu)
c.2456T>A (p.Val819Glu)
c.2267T>A (p.Val756Glu)
n.1396T>A
c.2228T>A (p.Val743Glu)
c.2441T>A (p.Val814Glu)
c.1040T>A (p.Val347Glu)
c.1022T>A (p.Val341Glu)
n.2561T>A
22g.19973002C>ACA410694810ARVCFc.2473G>T (p.Val825Leu)
c.2284G>T (p.Val762Leu)
c.2455G>T (p.Val819Leu)
c.2266G>T (p.Val756Leu)
n.1395G>T
c.2227G>T (p.Val743Leu)
c.2440G>T (p.Val814Leu)
c.1039G>T (p.Val347Leu)
c.1021G>T (p.Val341Leu)
n.2560G>T
22g.19973002C>GCA410694805ARVCFc.2473G>C (p.Val825Leu)
c.2284G>C (p.Val762Leu)
c.2455G>C (p.Val819Leu)
c.2266G>C (p.Val756Leu)
n.1395G>C
c.2227G>C (p.Val743Leu)
c.2440G>C (p.Val814Leu)
c.1039G>C (p.Val347Leu)
c.1021G>C (p.Val341Leu)
n.2560G>C
22g.19973002C>TCA410694807ARVCFc.2473G>A (p.Val825Met)
c.2284G>A (p.Val762Met)
c.2455G>A (p.Val819Met)
c.2266G>A (p.Val756Met)
n.1395G>A
c.2227G>A (p.Val743Met)
c.2440G>A (p.Val814Met)
c.1039G>A (p.Val347Met)
c.1021G>A (p.Val341Met)
n.2560G>A
 gnomAD v4
22g.19973003G>ACA513689089ARVCFc.2472C>T (p.His824=)
c.2283C>T (p.His761=)
c.2454C>T (p.His818=)
c.2265C>T (p.His755=)
n.1394C>T
c.2226C>T (p.His742=)
c.2439C>T (p.His813=)
c.1038C>T (p.His346=)
c.1020C>T (p.His340=)
n.2559C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
22g.19973003G>CCA410694813ARVCFc.2472C>G (p.His824Gln)
c.2283C>G (p.His761Gln)
c.2454C>G (p.His818Gln)
c.2265C>G (p.His755Gln)
n.1394C>G
c.2226C>G (p.His742Gln)
c.2439C>G (p.His813Gln)
c.1038C>G (p.His346Gln)
c.1020C>G (p.His340Gln)
n.2559C>G
 dbSNP gnomAD v3 gnomAD v4
22g.19973003G=CA2396130945ARVCFc.2472C= (p.His824=)
c.2283C= (p.His761=)
c.2454C= (p.His818=)
c.2265C= (p.His755=)
n.1394C=
c.2226C= (p.His742=)
c.2439C= (p.His813=)
c.1038C= (p.His346=)
c.1020C= (p.His340=)
n.2559C=
22g.19973003G>TCA410694814ARVCFc.2472C>A (p.His824Gln)
c.2283C>A (p.His761Gln)
c.2454C>A (p.His818Gln)
c.2265C>A (p.His755Gln)
n.1394C>A
c.2226C>A (p.His742Gln)
c.2439C>A (p.His813Gln)
c.1038C>A (p.His346Gln)
c.1020C>A (p.His340Gln)
n.2559C>A
 gnomAD v4
22g.19973004T>ACA410694817ARVCFc.2471A>T (p.His824Leu)
c.2282A>T (p.His761Leu)
c.2453A>T (p.His818Leu)
c.2264A>T (p.His755Leu)
n.1393A>T
c.2225A>T (p.His742Leu)
c.2438A>T (p.His813Leu)
c.1037A>T (p.His346Leu)
c.1019A>T (p.His340Leu)
n.2558A>T
22g.19973004T>CCA410694818ARVCFc.2471A>G (p.His824Arg)
c.2282A>G (p.His761Arg)
c.2453A>G (p.His818Arg)
c.2264A>G (p.His755Arg)
n.1393A>G
c.2225A>G (p.His742Arg)
c.2438A>G (p.His813Arg)
c.1037A>G (p.His346Arg)
c.1019A>G (p.His340Arg)
n.2558A>G
 dbSNP
22g.19973004T>GCA410694820ARVCFc.2471A>C (p.His824Pro)
c.2282A>C (p.His761Pro)
c.2453A>C (p.His818Pro)
c.2264A>C (p.His755Pro)
n.1393A>C
c.2225A>C (p.His742Pro)
c.2438A>C (p.His813Pro)
c.1037A>C (p.His346Pro)
c.1019A>C (p.His340Pro)
n.2558A>C
22g.19973004T=CA2396130946ARVCFc.2471A= (p.His824=)
c.2282A= (p.His761=)
c.2453A= (p.His818=)
c.2264A= (p.His755=)
n.1393A=
c.2225A= (p.His742=)
c.2438A= (p.His813=)
c.1037A= (p.His346=)
c.1019A= (p.His340=)
n.2558A=
22g.19973005G>ACA10105098ARVCFc.2470C>T (p.His824Tyr)
c.2281C>T (p.His761Tyr)
c.2452C>T (p.His818Tyr)
c.2263C>T (p.His755Tyr)
n.1392C>T
c.2224C>T (p.His742Tyr)
c.2437C>T (p.His813Tyr)
c.1036C>T (p.His346Tyr)
c.1018C>T (p.His340Tyr)
n.2557C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19973005G>CCA410694825ARVCFc.2470C>G (p.His824Asp)
c.2281C>G (p.His761Asp)
c.2452C>G (p.His818Asp)
c.2263C>G (p.His755Asp)
n.1392C>G
c.2224C>G (p.His742Asp)
c.2437C>G (p.His813Asp)
c.1036C>G (p.His346Asp)
c.1018C>G (p.His340Asp)
n.2557C>G
22g.19973005G=CA2396130947ARVCFc.2470C= (p.His824=)
c.2281C= (p.His761=)
c.2452C= (p.His818=)
c.2263C= (p.His755=)
n.1392C=
c.2224C= (p.His742=)
c.2437C= (p.His813=)
c.1036C= (p.His346=)
c.1018C= (p.His340=)
n.2557C=
22g.19973005G>TCA410694823ARVCFc.2470C>A (p.His824Asn)
c.2281C>A (p.His761Asn)
c.2452C>A (p.His818Asn)
c.2263C>A (p.His755Asn)
n.1392C>A
c.2224C>A (p.His742Asn)
c.2437C>A (p.His813Asn)
c.1036C>A (p.His346Asn)
c.1018C>A (p.His340Asn)
n.2557C>A
22g.19973006T>ACA513689102ARVCFc.2469A>T (p.Ser823=)
c.2280A>T (p.Ser760=)
c.2451A>T (p.Ser817=)
c.2262A>T (p.Ser754=)
n.1391A>T
c.2223A>T (p.Ser741=)
c.2436A>T (p.Ser812=)
c.1035A>T (p.Ser345=)
c.1017A>T (p.Ser339=)
n.2556A>T
22g.19973006T>CCA513689105ARVCFc.2469A>G (p.Ser823=)
c.2280A>G (p.Ser760=)
c.2451A>G (p.Ser817=)
c.2262A>G (p.Ser754=)
n.1391A>G
c.2223A>G (p.Ser741=)
c.2436A>G (p.Ser812=)
c.1035A>G (p.Ser345=)
c.1017A>G (p.Ser339=)
n.2556A>G
22g.19973006T>GCA513689107ARVCFc.2469A>C (p.Ser823=)
c.2280A>C (p.Ser760=)
c.2451A>C (p.Ser817=)
c.2262A>C (p.Ser754=)
n.1391A>C
c.2223A>C (p.Ser741=)
c.2436A>C (p.Ser812=)
c.1035A>C (p.Ser345=)
c.1017A>C (p.Ser339=)
n.2556A>C
 COSMIC
22g.19973007G>ACA10105099ARVCFc.2468C>T (p.Ser823Leu)
c.2279C>T (p.Ser760Leu)
c.2450C>T (p.Ser817Leu)
c.2261C>T (p.Ser754Leu)
n.1390C>T
c.2222C>T (p.Ser741Leu)
c.2435C>T (p.Ser812Leu)
c.1034C>T (p.Ser345Leu)
c.1016C>T (p.Ser339Leu)
n.2555C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19973007G>CCA410694828ARVCFc.2468C>G (p.Ser823Ter)
c.2279C>G (p.Ser760Ter)
c.2450C>G (p.Ser817Ter)
c.2261C>G (p.Ser754Ter)
n.1390C>G
c.2222C>G (p.Ser741Ter)
c.2435C>G (p.Ser812Ter)
c.1034C>G (p.Ser345Ter)
c.1016C>G (p.Ser339Ter)
n.2555C>G
22g.19973007G=CA2396130948ARVCFc.2468C= (p.Ser823=)
c.2279C= (p.Ser760=)
c.2450C= (p.Ser817=)
c.2261C= (p.Ser754=)
n.1390C=
c.2222C= (p.Ser741=)
c.2435C= (p.Ser812=)
c.1034C= (p.Ser345=)
c.1016C= (p.Ser339=)
n.2555C=
22g.19973007G>TCA410694830ARVCFc.2468C>A (p.Ser823Ter)
c.2279C>A (p.Ser760Ter)
c.2450C>A (p.Ser817Ter)
c.2261C>A (p.Ser754Ter)
n.1390C>A
c.2222C>A (p.Ser741Ter)
c.2435C>A (p.Ser812Ter)
c.1034C>A (p.Ser345Ter)
c.1016C>A (p.Ser339Ter)
n.2555C>A
22g.19973008A=CA2396130950ARVCFc.2467T= (p.Ser823=)
c.2278T= (p.Ser760=)
c.2449T= (p.Ser817=)
c.2260T= (p.Ser754=)
n.1389T=
c.2221T= (p.Ser741=)
c.2434T= (p.Ser812=)
c.1033T= (p.Ser345=)
c.1015T= (p.Ser339=)
n.2554T=
22g.19973008A>CCA410694832ARVCFc.2467T>G (p.Ser823Ala)
c.2278T>G (p.Ser760Ala)
c.2449T>G (p.Ser817Ala)
c.2260T>G (p.Ser754Ala)
n.1389T>G
c.2221T>G (p.Ser741Ala)
c.2434T>G (p.Ser812Ala)
c.1033T>G (p.Ser345Ala)
c.1015T>G (p.Ser339Ala)
n.2554T>G
 dbSNP gnomAD v2 gnomAD v4
22g.19973008A>GCA410694833ARVCFc.2467T>C (p.Ser823Pro)
c.2278T>C (p.Ser760Pro)
c.2449T>C (p.Ser817Pro)
c.2260T>C (p.Ser754Pro)
n.1389T>C
c.2221T>C (p.Ser741Pro)
c.2434T>C (p.Ser812Pro)
c.1033T>C (p.Ser345Pro)
c.1015T>C (p.Ser339Pro)
n.2554T>C
22g.19973008A>TCA410694835ARVCFc.2467T>A (p.Ser823Thr)
c.2278T>A (p.Ser760Thr)
c.2449T>A (p.Ser817Thr)
c.2260T>A (p.Ser754Thr)
n.1389T>A
c.2221T>A (p.Ser741Thr)
c.2434T>A (p.Ser812Thr)
c.1033T>A (p.Ser345Thr)
c.1015T>A (p.Ser339Thr)
n.2554T>A
22g.19973008_19973011delinsACGCCA2396130949ARVCFc.2464_2467delinsGCGT (p.Ala822=)
c.2275_2278delinsGCGT (p.Ala759=)
c.2446_2449delinsGCGT (p.Ala816=)
c.2257_2260delinsGCGT (p.Ala753=)
n.1386_1389delinsGCGT
c.2218_2221delinsGCGT (p.Ala740=)
c.2431_2434delinsGCGT (p.Ala811=)
c.1030_1033delinsGCGT (p.Ala344=)
c.1012_1015delinsGCGT (p.Ala338=)
n.2551_2554delinsGCGT
22g.19973009C>ACA513689118ARVCFc.2466G>T (p.Ala822=)
c.2277G>T (p.Ala759=)
c.2448G>T (p.Ala816=)
c.2259G>T (p.Ala753=)
n.1388G>T
c.2220G>T (p.Ala740=)
c.2433G>T (p.Ala811=)
c.1032G>T (p.Ala344=)
c.1014G>T (p.Ala338=)
n.2553G>T
22g.19973009C=CA2396130951ARVCFc.2466G= (p.Ala822=)
c.2277G= (p.Ala759=)
c.2448G= (p.Ala816=)
c.2259G= (p.Ala753=)
n.1388G=
c.2220G= (p.Ala740=)
c.2433G= (p.Ala811=)
c.1032G= (p.Ala344=)
c.1014G= (p.Ala338=)
n.2553G=
22g.19973009C>GCA513689115ARVCFc.2466G>C (p.Ala822=)
c.2277G>C (p.Ala759=)
c.2448G>C (p.Ala816=)
c.2259G>C (p.Ala753=)
n.1388G>C
c.2220G>C (p.Ala740=)
c.2433G>C (p.Ala811=)
c.1032G>C (p.Ala344=)
c.1014G>C (p.Ala338=)
n.2553G>C
 gnomAD v4
22g.19973009C>TCA10105101ARVCFc.2466G>A (p.Ala822=)
c.2277G>A (p.Ala759=)
c.2448G>A (p.Ala816=)
c.2259G>A (p.Ala753=)
n.1388G>A
c.2220G>A (p.Ala740=)
c.2433G>A (p.Ala811=)
c.1032G>A (p.Ala344=)
c.1014G>A (p.Ala338=)
n.2553G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19973013_19973015delCA10105100ARVCFc.2464_2466del (p.Ala822del)
c.2275_2277del (p.Ala759del)
c.2446_2448del (p.Ala816del)
c.2257_2259del (p.Ala753del)
n.1386_1388del
c.2218_2220del (p.Ala740del)
c.2431_2433del (p.Ala811del)
c.1030_1032del (p.Ala344del)
c.1012_1014del (p.Ala338del)
n.2551_2553del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19973010G>ACA10105102ARVCFc.2465C>T (p.Ala822Val)
c.2276C>T (p.Ala759Val)
c.2447C>T (p.Ala816Val)
c.2258C>T (p.Ala753Val)
n.1387C>T
c.2219C>T (p.Ala740Val)
c.2432C>T (p.Ala811Val)
c.1031C>T (p.Ala344Val)
c.1013C>T (p.Ala338Val)
n.2552C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.19973010G>CCA410694840ARVCFc.2465C>G (p.Ala822Gly)
c.2276C>G (p.Ala759Gly)
c.2447C>G (p.Ala816Gly)
c.2258C>G (p.Ala753Gly)
n.1387C>G
c.2219C>G (p.Ala740Gly)
c.2432C>G (p.Ala811Gly)
c.1031C>G (p.Ala344Gly)
c.1013C>G (p.Ala338Gly)
n.2552C>G
22g.19973010G=CA2396130952ARVCFc.2465C= (p.Ala822=)
c.2276C= (p.Ala759=)
c.2447C= (p.Ala816=)
c.2258C= (p.Ala753=)
n.1387C=
c.2219C= (p.Ala740=)
c.2432C= (p.Ala811=)
c.1031C= (p.Ala344=)
c.1013C= (p.Ala338=)
n.2552C=
22g.19973010G>TCA410694842ARVCFc.2465C>A (p.Ala822Glu)
c.2276C>A (p.Ala759Glu)
c.2447C>A (p.Ala816Glu)
c.2258C>A (p.Ala753Glu)
n.1387C>A
c.2219C>A (p.Ala740Glu)
c.2432C>A (p.Ala811Glu)
c.1031C>A (p.Ala344Glu)
c.1013C>A (p.Ala338Glu)
n.2552C>A
22g.19973011C>ACA410694844ARVCFc.2464G>T (p.Ala822Ser)
c.2275G>T (p.Ala759Ser)
c.2446G>T (p.Ala816Ser)
c.2257G>T (p.Ala753Ser)
n.1386G>T
c.2218G>T (p.Ala740Ser)
c.2431G>T (p.Ala811Ser)
c.1030G>T (p.Ala344Ser)
c.1012G>T (p.Ala338Ser)
n.2551G>T
22g.19973011C=CA2396130953ARVCFc.2464G= (p.Ala822=)
c.2275G= (p.Ala759=)
c.2446G= (p.Ala816=)
c.2257G= (p.Ala753=)
n.1386G=
c.2218G= (p.Ala740=)
c.2431G= (p.Ala811=)
c.1030G= (p.Ala344=)
c.1012G= (p.Ala338=)
n.2551G=
22g.19973011C>GCA410694847ARVCFc.2464G>C (p.Ala822Pro)
c.2275G>C (p.Ala759Pro)
c.2446G>C (p.Ala816Pro)
c.2257G>C (p.Ala753Pro)
n.1386G>C
c.2218G>C (p.Ala740Pro)
c.2431G>C (p.Ala811Pro)
c.1030G>C (p.Ala344Pro)
c.1012G>C (p.Ala338Pro)
n.2551G>C
22g.19973011C>TCA322126318ARVCFc.2464G>A (p.Ala822Thr)
c.2275G>A (p.Ala759Thr)
c.2446G>A (p.Ala816Thr)
c.2257G>A (p.Ala753Thr)
n.1386G>A
c.2218G>A (p.Ala740Thr)
c.2431G>A (p.Ala811Thr)
c.1030G>A (p.Ala344Thr)
c.1012G>A (p.Ala338Thr)
n.2551G>A
 dbSNP gnomAD v4
22g.19973012C>ACA513689124ARVCFc.2463G>T (p.Ala821=)
c.2274G>T (p.Ala758=)
c.2445G>T (p.Ala815=)
c.2256G>T (p.Ala752=)
n.1385G>T
c.2217G>T (p.Ala739=)
c.2430G>T (p.Ala810=)
c.1029G>T (p.Ala343=)
c.1011G>T (p.Ala337=)
n.2550G>T
 gnomAD v4
22g.19973012C=CA2396130954ARVCFc.2463G= (p.Ala821=)
c.2274G= (p.Ala758=)
c.2445G= (p.Ala815=)
c.2256G= (p.Ala752=)
n.1385G=
c.2217G= (p.Ala739=)
c.2430G= (p.Ala810=)
c.1029G= (p.Ala343=)
c.1011G= (p.Ala337=)
n.2550G=
22g.19973012C>GCA513689125ARVCFc.2463G>C (p.Ala821=)
c.2274G>C (p.Ala758=)
c.2445G>C (p.Ala815=)
c.2256G>C (p.Ala752=)
n.1385G>C
c.2217G>C (p.Ala739=)
c.2430G>C (p.Ala810=)
c.1029G>C (p.Ala343=)
c.1011G>C (p.Ala337=)
n.2550G>C
22g.19973012C>TCA10105103ARVCFc.2463G>A (p.Ala821=)
c.2274G>A (p.Ala758=)
c.2445G>A (p.Ala815=)
c.2256G>A (p.Ala752=)
n.1385G>A
c.2217G>A (p.Ala739=)
c.2430G>A (p.Ala810=)
c.1029G>A (p.Ala343=)
c.1011G>A (p.Ala337=)
n.2550G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
22g.19973013G>ACA10105104ARVCFc.2462C>T (p.Ala821Val)
c.2273C>T (p.Ala758Val)
c.2444C>T (p.Ala815Val)
c.2255C>T (p.Ala752Val)
n.1384C>T
c.2216C>T (p.Ala739Val)
c.2429C>T (p.Ala810Val)
c.1028C>T (p.Ala343Val)
c.1010C>T (p.Ala337Val)
n.2549C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19973013G>CCA410694850ARVCFc.2462C>G (p.Ala821Gly)
c.2273C>G (p.Ala758Gly)
c.2444C>G (p.Ala815Gly)
c.2255C>G (p.Ala752Gly)
n.1384C>G
c.2216C>G (p.Ala739Gly)
c.2429C>G (p.Ala810Gly)
c.1028C>G (p.Ala343Gly)
c.1010C>G (p.Ala337Gly)
n.2549C>G
 gnomAD v4
22g.19973013G=CA2396130955ARVCFc.2462C= (p.Ala821=)
c.2273C= (p.Ala758=)
c.2444C= (p.Ala815=)
c.2255C= (p.Ala752=)
n.1384C=
c.2216C= (p.Ala739=)
c.2429C= (p.Ala810=)
c.1028C= (p.Ala343=)
c.1010C= (p.Ala337=)
n.2549C=
22g.19973013G>TCA410694851ARVCFc.2462C>A (p.Ala821Glu)
c.2273C>A (p.Ala758Glu)
c.2444C>A (p.Ala815Glu)
c.2255C>A (p.Ala752Glu)
n.1384C>A
c.2216C>A (p.Ala739Glu)
c.2429C>A (p.Ala810Glu)
c.1028C>A (p.Ala343Glu)
c.1010C>A (p.Ala337Glu)
n.2549C>A
22g.19973014C>ACA410694854ARVCFc.2461G>T (p.Ala821Ser)
c.2272G>T (p.Ala758Ser)
c.2443G>T (p.Ala815Ser)
c.2254G>T (p.Ala752Ser)
n.1383G>T
c.2215G>T (p.Ala739Ser)
c.2428G>T (p.Ala810Ser)
c.1027G>T (p.Ala343Ser)
c.1009G>T (p.Ala337Ser)
n.2548G>T
22g.19973014C=CA2396130956ARVCFc.2461G= (p.Ala821=)
c.2272G= (p.Ala758=)
c.2443G= (p.Ala815=)
c.2254G= (p.Ala752=)
n.1383G=
c.2215G= (p.Ala739=)
c.2428G= (p.Ala810=)
c.1027G= (p.Ala343=)
c.1009G= (p.Ala337=)
n.2548G=
22g.19973014C>GCA410694856ARVCFc.2461G>C (p.Ala821Pro)
c.2272G>C (p.Ala758Pro)
c.2443G>C (p.Ala815Pro)
c.2254G>C (p.Ala752Pro)
n.1383G>C
c.2215G>C (p.Ala739Pro)
c.2428G>C (p.Ala810Pro)
c.1027G>C (p.Ala343Pro)
c.1009G>C (p.Ala337Pro)
n.2548G>C
22g.19973014C>TCA10105105ARVCFc.2461G>A (p.Ala821Thr)
c.2272G>A (p.Ala758Thr)
c.2443G>A (p.Ala815Thr)
c.2254G>A (p.Ala752Thr)
n.1383G>A
c.2215G>A (p.Ala739Thr)
c.2428G>A (p.Ala810Thr)
c.1027G>A (p.Ala343Thr)
c.1009G>A (p.Ala337Thr)
n.2548G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19973015C>ACA410694859ARVCFc.2460G>T (p.Lys820Asn)
c.2271G>T (p.Lys757Asn)
c.2442G>T (p.Lys814Asn)
c.2253G>T (p.Lys751Asn)
n.1382G>T
c.2214G>T (p.Lys738Asn)
c.2427G>T (p.Lys809Asn)
c.1026G>T (p.Lys342Asn)
c.1008G>T (p.Lys336Asn)
n.2547G>T
22g.19973015C>GCA410694860ARVCFc.2460G>C (p.Lys820Asn)
c.2271G>C (p.Lys757Asn)
c.2442G>C (p.Lys814Asn)
c.2253G>C (p.Lys751Asn)
n.1382G>C
c.2214G>C (p.Lys738Asn)
c.2427G>C (p.Lys809Asn)
c.1026G>C (p.Lys342Asn)
c.1008G>C (p.Lys336Asn)
n.2547G>C
22g.19973015C>TCA513689131ARVCFc.2460G>A (p.Lys820=)
c.2271G>A (p.Lys757=)
c.2442G>A (p.Lys814=)
c.2253G>A (p.Lys751=)
n.1382G>A
c.2214G>A (p.Lys738=)
c.2427G>A (p.Lys809=)
c.1026G>A (p.Lys342=)
c.1008G>A (p.Lys336=)
n.2547G>A
 gnomAD v4
22g.19973016T>ACA410694863ARVCFc.2459A>T (p.Lys820Met)
c.2270A>T (p.Lys757Met)
c.2441A>T (p.Lys814Met)
c.2252A>T (p.Lys751Met)
n.1381A>T
c.2213A>T (p.Lys738Met)
c.2426A>T (p.Lys809Met)
c.1025A>T (p.Lys342Met)
c.1007A>T (p.Lys336Met)
n.2546A>T
22g.19973016T>CCA410694865ARVCFc.2459A>G (p.Lys820Arg)
c.2270A>G (p.Lys757Arg)
c.2441A>G (p.Lys814Arg)
c.2252A>G (p.Lys751Arg)
n.1381A>G
c.2213A>G (p.Lys738Arg)
c.2426A>G (p.Lys809Arg)
c.1025A>G (p.Lys342Arg)
c.1007A>G (p.Lys336Arg)
n.2546A>G
 gnomAD v4
22g.19973016T>GCA410694866ARVCFc.2459A>C (p.Lys820Thr)
c.2270A>C (p.Lys757Thr)
c.2441A>C (p.Lys814Thr)
c.2252A>C (p.Lys751Thr)
n.1381A>C
c.2213A>C (p.Lys738Thr)
c.2426A>C (p.Lys809Thr)
c.1025A>C (p.Lys342Thr)
c.1007A>C (p.Lys336Thr)
n.2546A>C
 dbSNP gnomAD v2 gnomAD v4
22g.19973016T=CA2396130957ARVCFc.2459A= (p.Lys820=)
c.2270A= (p.Lys757=)
c.2441A= (p.Lys814=)
c.2252A= (p.Lys751=)
n.1381A=
c.2213A= (p.Lys738=)
c.2426A= (p.Lys809=)
c.1025A= (p.Lys342=)
c.1007A= (p.Lys336=)
n.2546A=
22g.19973017T>ACA410694868ARVCFc.2458A>T (p.Lys820Ter)
c.2269A>T (p.Lys757Ter)
c.2440A>T (p.Lys814Ter)
c.2251A>T (p.Lys751Ter)
n.1380A>T
c.2212A>T (p.Lys738Ter)
c.2425A>T (p.Lys809Ter)
c.1024A>T (p.Lys342Ter)
c.1006A>T (p.Lys336Ter)
n.2545A>T
22g.19973017T>CCA410694870ARVCFc.2458A>G (p.Lys820Glu)
c.2269A>G (p.Lys757Glu)
c.2440A>G (p.Lys814Glu)
c.2251A>G (p.Lys751Glu)
n.1380A>G
c.2212A>G (p.Lys738Glu)
c.2425A>G (p.Lys809Glu)
c.1024A>G (p.Lys342Glu)
c.1006A>G (p.Lys336Glu)
n.2545A>G
22g.19973017T>GCA410694872ARVCFc.2458A>C (p.Lys820Gln)
c.2269A>C (p.Lys757Gln)
c.2440A>C (p.Lys814Gln)
c.2251A>C (p.Lys751Gln)
n.1380A>C
c.2212A>C (p.Lys738Gln)
c.2425A>C (p.Lys809Gln)
c.1024A>C (p.Lys342Gln)
c.1006A>C (p.Lys336Gln)
n.2545A>C
 gnomAD v4
22g.19973018C>ACA513689138ARVCFc.2457G>T (p.Ala819=)
c.2268G>T (p.Ala756=)
c.2439G>T (p.Ala813=)
c.2250G>T (p.Ala750=)
n.1379G>T
c.2211G>T (p.Ala737=)
c.2424G>T (p.Ala808=)
c.1023G>T (p.Ala341=)
c.1005G>T (p.Ala335=)
n.2544G>T
22g.19973018C>GCA513689136ARVCFc.2457G>C (p.Ala819=)
c.2268G>C (p.Ala756=)
c.2439G>C (p.Ala813=)
c.2250G>C (p.Ala750=)
n.1379G>C
c.2211G>C (p.Ala737=)
c.2424G>C (p.Ala808=)
c.1023G>C (p.Ala341=)
c.1005G>C (p.Ala335=)
n.2544G>C
22g.19973018C>TCA513689137ARVCFc.2457G>A (p.Ala819=)
c.2268G>A (p.Ala756=)
c.2439G>A (p.Ala813=)
c.2250G>A (p.Ala750=)
n.1379G>A
c.2211G>A (p.Ala737=)
c.2424G>A (p.Ala808=)
c.1023G>A (p.Ala341=)
c.1005G>A (p.Ala335=)
n.2544G>A
 dbSNP COSMIC
22g.19973019G>ACA10105106ARVCFc.2456C>T (p.Ala819Val)
c.2267C>T (p.Ala756Val)
c.2438C>T (p.Ala813Val)
c.2249C>T (p.Ala750Val)
n.1378C>T
c.2210C>T (p.Ala737Val)
c.2423C>T (p.Ala808Val)
c.1022C>T (p.Ala341Val)
c.1004C>T (p.Ala335Val)
n.2543C>T
 dbSNP ExAC gnomAD v2
22g.19973019G>CCA10105107ARVCFc.2456C>G (p.Ala819Gly)
c.2267C>G (p.Ala756Gly)
c.2438C>G (p.Ala813Gly)
c.2249C>G (p.Ala750Gly)
n.1378C>G
c.2210C>G (p.Ala737Gly)
c.2423C>G (p.Ala808Gly)
c.1022C>G (p.Ala341Gly)
c.1004C>G (p.Ala335Gly)
n.2543C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19973019G=CA2396130958ARVCFc.2456C= (p.Ala819=)
c.2267C= (p.Ala756=)
c.2438C= (p.Ala813=)
c.2249C= (p.Ala750=)
n.1378C=
c.2210C= (p.Ala737=)
c.2423C= (p.Ala808=)
c.1022C= (p.Ala341=)
c.1004C= (p.Ala335=)
n.2543C=
22g.19973019G>TCA410694876ARVCFc.2456C>A (p.Ala819Glu)
c.2267C>A (p.Ala756Glu)
c.2438C>A (p.Ala813Glu)
c.2249C>A (p.Ala750Glu)
n.1378C>A
c.2210C>A (p.Ala737Glu)
c.2423C>A (p.Ala808Glu)
c.1022C>A (p.Ala341Glu)
c.1004C>A (p.Ala335Glu)
n.2543C>A
22g.19973020C>ACA410694878ARVCFc.2455G>T (p.Ala819Ser)
c.2266G>T (p.Ala756Ser)
c.2437G>T (p.Ala813Ser)
c.2248G>T (p.Ala750Ser)
n.1377G>T
c.2209G>T (p.Ala737Ser)
c.2422G>T (p.Ala808Ser)
c.1021G>T (p.Ala341Ser)
c.1003G>T (p.Ala335Ser)
n.2542G>T
 dbSNP gnomAD v3 gnomAD v4
22g.19973020C=CA2396130959ARVCFc.2455G= (p.Ala819=)
c.2266G= (p.Ala756=)
c.2437G= (p.Ala813=)
c.2248G= (p.Ala750=)
n.1377G=
c.2209G= (p.Ala737=)
c.2422G= (p.Ala808=)
c.1021G= (p.Ala341=)
c.1003G= (p.Ala335=)
n.2542G=
22g.19973020C>GCA410694879ARVCFc.2455G>C (p.Ala819Pro)
c.2266G>C (p.Ala756Pro)
c.2437G>C (p.Ala813Pro)
c.2248G>C (p.Ala750Pro)
n.1377G>C
c.2209G>C (p.Ala737Pro)
c.2422G>C (p.Ala808Pro)
c.1021G>C (p.Ala341Pro)
c.1003G>C (p.Ala335Pro)
n.2542G>C
22g.19973020C>TCA410694881ARVCFc.2455G>A (p.Ala819Thr)
c.2266G>A (p.Ala756Thr)
c.2437G>A (p.Ala813Thr)
c.2248G>A (p.Ala750Thr)
n.1377G>A
c.2209G>A (p.Ala737Thr)
c.2422G>A (p.Ala808Thr)
c.1021G>A (p.Ala341Thr)
c.1003G>A (p.Ala335Thr)
n.2542G>A
22g.19973021T>ACA410694883ARVCFc.2454A>T (p.Glu818Asp)
c.2265A>T (p.Glu755Asp)
c.2436A>T (p.Glu812Asp)
c.2247A>T (p.Glu749Asp)
n.1376A>T
c.2208A>T (p.Glu736Asp)
c.2421A>T (p.Glu807Asp)
c.1020A>T (p.Glu340Asp)
c.1002A>T (p.Glu334Asp)
n.2541A>T
22g.19973021T>CCA513689146ARVCFc.2454A>G (p.Glu818=)
c.2265A>G (p.Glu755=)
c.2436A>G (p.Glu812=)
c.2247A>G (p.Glu749=)
n.1376A>G
c.2208A>G (p.Glu736=)
c.2421A>G (p.Glu807=)
c.1020A>G (p.Glu340=)
c.1002A>G (p.Glu334=)
n.2541A>G
 gnomAD v4
22g.19973021T>GCA410694884ARVCFc.2454A>C (p.Glu818Asp)
c.2265A>C (p.Glu755Asp)
c.2436A>C (p.Glu812Asp)
c.2247A>C (p.Glu749Asp)
n.1376A>C
c.2208A>C (p.Glu736Asp)
c.2421A>C (p.Glu807Asp)
c.1020A>C (p.Glu340Asp)
c.1002A>C (p.Glu334Asp)
n.2541A>C
22g.19973022T>ACA410694886ARVCFc.2453A>T (p.Glu818Val)
c.2264A>T (p.Glu755Val)
c.2435A>T (p.Glu812Val)
c.2246A>T (p.Glu749Val)
n.1375A>T
c.2207A>T (p.Glu736Val)
c.2420A>T (p.Glu807Val)
c.1019A>T (p.Glu340Val)
c.1001A>T (p.Glu334Val)
n.2540A>T
22g.19973022T>CCA410694888ARVCFc.2453A>G (p.Glu818Gly)
c.2264A>G (p.Glu755Gly)
c.2435A>G (p.Glu812Gly)
c.2246A>G (p.Glu749Gly)
n.1375A>G
c.2207A>G (p.Glu736Gly)
c.2420A>G (p.Glu807Gly)
c.1019A>G (p.Glu340Gly)
c.1001A>G (p.Glu334Gly)
n.2540A>G
 gnomAD v4
22g.19973022T>GCA410694889ARVCFc.2453A>C (p.Glu818Ala)
c.2264A>C (p.Glu755Ala)
c.2435A>C (p.Glu812Ala)
c.2246A>C (p.Glu749Ala)
n.1375A>C
c.2207A>C (p.Glu736Ala)
c.2420A>C (p.Glu807Ala)
c.1019A>C (p.Glu340Ala)
c.1001A>C (p.Glu334Ala)
n.2540A>C
 gnomAD v4
22g.19973023C>ACA410694891ARVCFc.2452G>T (p.Glu818Ter)
c.2263G>T (p.Glu755Ter)
c.2434G>T (p.Glu812Ter)
c.2245G>T (p.Glu749Ter)
n.1374G>T
c.2206G>T (p.Glu736Ter)
c.2419G>T (p.Glu807Ter)
c.1018G>T (p.Glu340Ter)
c.1000G>T (p.Glu334Ter)
n.2539G>T
 gnomAD v4
22g.19973023C=CA2396130960ARVCFc.2452G= (p.Glu818=)
c.2263G= (p.Glu755=)
c.2434G= (p.Glu812=)
c.2245G= (p.Glu749=)
n.1374G=
c.2206G= (p.Glu736=)
c.2419G= (p.Glu807=)
c.1018G= (p.Glu340=)
c.1000G= (p.Glu334=)
n.2539G=
22g.19973023C>GCA410694893ARVCFc.2452G>C (p.Glu818Gln)
c.2263G>C (p.Glu755Gln)
c.2434G>C (p.Glu812Gln)
c.2245G>C (p.Glu749Gln)
n.1374G>C
c.2206G>C (p.Glu736Gln)
c.2419G>C (p.Glu807Gln)
c.1018G>C (p.Glu340Gln)
c.1000G>C (p.Glu334Gln)
n.2539G>C
22g.19973023C>TCA322126334ARVCFc.2452G>A (p.Glu818Lys)
c.2263G>A (p.Glu755Lys)
c.2434G>A (p.Glu812Lys)
c.2245G>A (p.Glu749Lys)
n.1374G>A
c.2206G>A (p.Glu736Lys)
c.2419G>A (p.Glu807Lys)
c.1018G>A (p.Glu340Lys)
c.1000G>A (p.Glu334Lys)
n.2539G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19973024G>ACA513689153ARVCFc.2451C>T (p.Arg817=)
c.2262C>T (p.Arg754=)
c.2433C>T (p.Arg811=)
c.2244C>T (p.Arg748=)
n.1373C>T
c.2205C>T (p.Arg735=)
c.2418C>T (p.Arg806=)
c.1017C>T (p.Arg339=)
c.999C>T (p.Arg333=)
n.2538C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.19973024G>CCA513689154ARVCFc.2451C>G (p.Arg817=)
c.2262C>G (p.Arg754=)
c.2433C>G (p.Arg811=)
c.2244C>G (p.Arg748=)
n.1373C>G
c.2205C>G (p.Arg735=)
c.2418C>G (p.Arg806=)
c.1017C>G (p.Arg339=)
c.999C>G (p.Arg333=)
n.2538C>G
22g.19973024G=CA2396130961ARVCFc.2451C= (p.Arg817=)
c.2262C= (p.Arg754=)
c.2433C= (p.Arg811=)
c.2244C= (p.Arg748=)
n.1373C=
c.2205C= (p.Arg735=)
c.2418C= (p.Arg806=)
c.1017C= (p.Arg339=)
c.999C= (p.Arg333=)
n.2538C=
22g.19973024G>TCA513689155ARVCFc.2451C>A (p.Arg817=)
c.2262C>A (p.Arg754=)
c.2433C>A (p.Arg811=)
c.2244C>A (p.Arg748=)
n.1373C>A
c.2205C>A (p.Arg735=)
c.2418C>A (p.Arg806=)
c.1017C>A (p.Arg339=)
c.999C>A (p.Arg333=)
n.2538C>A
22g.19973025C>ACA410694897ARVCFc.2450G>T (p.Arg817Leu)
c.2261G>T (p.Arg754Leu)
c.2432G>T (p.Arg811Leu)
c.2243G>T (p.Arg748Leu)
n.1372G>T
c.2204G>T (p.Arg735Leu)
c.2417G>T (p.Arg806Leu)
c.1016G>T (p.Arg339Leu)
c.998G>T (p.Arg333Leu)
n.2537G>T
22g.19973025C=CA2396130962ARVCFc.2450G= (p.Arg817=)
c.2261G= (p.Arg754=)
c.2432G= (p.Arg811=)
c.2243G= (p.Arg748=)
n.1372G=
c.2204G= (p.Arg735=)
c.2417G= (p.Arg806=)
c.1016G= (p.Arg339=)
c.998G= (p.Arg333=)
n.2537G=
22g.19973025C>GCA10105108ARVCFc.2450G>C (p.Arg817Pro)
c.2261G>C (p.Arg754Pro)
c.2432G>C (p.Arg811Pro)
c.2243G>C (p.Arg748Pro)
n.1372G>C
c.2204G>C (p.Arg735Pro)
c.2417G>C (p.Arg806Pro)
c.1016G>C (p.Arg339Pro)
c.998G>C (p.Arg333Pro)
n.2537G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19973025C>TCA10105109ARVCFc.2450G>A (p.Arg817His)
c.2261G>A (p.Arg754His)
c.2432G>A (p.Arg811His)
c.2243G>A (p.Arg748His)
n.1372G>A
c.2204G>A (p.Arg735His)
c.2417G>A (p.Arg806His)
c.1016G>A (p.Arg339His)
c.998G>A (p.Arg333His)
n.2537G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
22g.19973026G>ACA10105110ARVCFc.2449C>T (p.Arg817Cys)
c.2260C>T (p.Arg754Cys)
c.2431C>T (p.Arg811Cys)
c.2242C>T (p.Arg748Cys)
n.1371C>T
c.2203C>T (p.Arg735Cys)
c.2416C>T (p.Arg806Cys)
c.1015C>T (p.Arg339Cys)
c.997C>T (p.Arg333Cys)
n.2536C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19973026G>CCA410694899ARVCFc.2449C>G (p.Arg817Gly)
c.2260C>G (p.Arg754Gly)
c.2431C>G (p.Arg811Gly)
c.2242C>G (p.Arg748Gly)
n.1371C>G
c.2203C>G (p.Arg735Gly)
c.2416C>G (p.Arg806Gly)
c.1015C>G (p.Arg339Gly)
c.997C>G (p.Arg333Gly)
n.2536C>G
 gnomAD v4
22g.19973026G=CA2396130963ARVCFc.2449C= (p.Arg817=)
c.2260C= (p.Arg754=)
c.2431C= (p.Arg811=)
c.2242C= (p.Arg748=)
n.1371C=
c.2203C= (p.Arg735=)
c.2416C= (p.Arg806=)
c.1015C= (p.Arg339=)
c.997C= (p.Arg333=)
n.2536C=
22g.19973026G>TCA410694900ARVCFc.2449C>A (p.Arg817Ser)
c.2260C>A (p.Arg754Ser)
c.2431C>A (p.Arg811Ser)
c.2242C>A (p.Arg748Ser)
n.1371C>A
c.2203C>A (p.Arg735Ser)
c.2416C>A (p.Arg806Ser)
c.1015C>A (p.Arg339Ser)
c.997C>A (p.Arg333Ser)
n.2536C>A
22g.19973027T>ACA513689165ARVCFc.2448A>T (p.Val816=)
c.2259A>T (p.Val753=)
c.2430A>T (p.Val810=)
c.2241A>T (p.Val747=)
n.1370A>T
c.2202A>T (p.Val734=)
c.2415A>T (p.Val805=)
c.1014A>T (p.Val338=)
c.996A>T (p.Val332=)
n.2535A>T
 gnomAD v4
22g.19973027T>CCA513689166ARVCFc.2448A>G (p.Val816=)
c.2259A>G (p.Val753=)
c.2430A>G (p.Val810=)
c.2241A>G (p.Val747=)
n.1370A>G
c.2202A>G (p.Val734=)
c.2415A>G (p.Val805=)
c.1014A>G (p.Val338=)
c.996A>G (p.Val332=)
n.2535A>G
22g.19973027T>GCA513689171ARVCFc.2448A>C (p.Val816=)
c.2259A>C (p.Val753=)
c.2430A>C (p.Val810=)
c.2241A>C (p.Val747=)
n.1370A>C
c.2202A>C (p.Val734=)
c.2415A>C (p.Val805=)
c.1014A>C (p.Val338=)
c.996A>C (p.Val332=)
n.2535A>C
 gnomAD v3 gnomAD v4
22g.19973028A>CCA410694904ARVCFc.2447T>G (p.Val816Gly)
c.2258T>G (p.Val753Gly)
c.2429T>G (p.Val810Gly)
c.2240T>G (p.Val747Gly)
n.1369T>G
c.2201T>G (p.Val734Gly)
c.2414T>G (p.Val805Gly)
c.1013T>G (p.Val338Gly)
c.995T>G (p.Val332Gly)
n.2534T>G
 dbSNP gnomAD v3 gnomAD v4
22g.19973028A>GCA410694905ARVCFc.2447T>C (p.Val816Ala)
c.2258T>C (p.Val753Ala)
c.2429T>C (p.Val810Ala)
c.2240T>C (p.Val747Ala)
n.1369T>C
c.2201T>C (p.Val734Ala)
c.2414T>C (p.Val805Ala)
c.1013T>C (p.Val338Ala)
c.995T>C (p.Val332Ala)
n.2534T>C
22g.19973028A>TCA410694907ARVCFc.2447T>A (p.Val816Glu)
c.2258T>A (p.Val753Glu)
c.2429T>A (p.Val810Glu)
c.2240T>A (p.Val747Glu)
n.1369T>A
c.2201T>A (p.Val734Glu)
c.2414T>A (p.Val805Glu)
c.1013T>A (p.Val338Glu)
c.995T>A (p.Val332Glu)
n.2534T>A
22g.19973029C>ACA410694912ARVCFc.2446G>T (p.Val816Leu)
c.2257G>T (p.Val753Leu)
c.2428G>T (p.Val810Leu)
c.2239G>T (p.Val747Leu)
n.1368G>T
c.2200G>T (p.Val734Leu)
c.2413G>T (p.Val805Leu)
c.1012G>T (p.Val338Leu)
c.994G>T (p.Val332Leu)
n.2533G>T
22g.19973029C>GCA410694911ARVCFc.2446G>C (p.Val816Leu)
c.2257G>C (p.Val753Leu)
c.2428G>C (p.Val810Leu)
c.2239G>C (p.Val747Leu)
n.1368G>C
c.2200G>C (p.Val734Leu)
c.2413G>C (p.Val805Leu)
c.1012G>C (p.Val338Leu)
c.994G>C (p.Val332Leu)
n.2533G>C
22g.19973029C>TCA410694910ARVCFc.2446G>A (p.Val816Ile)
c.2257G>A (p.Val753Ile)
c.2428G>A (p.Val810Ile)
c.2239G>A (p.Val747Ile)
n.1368G>A
c.2200G>A (p.Val734Ile)
c.2413G>A (p.Val805Ile)
c.1012G>A (p.Val338Ile)
c.994G>A (p.Val332Ile)
n.2533G>A
22g.19973030C>ACA513689180ARVCFc.2445G>T (p.Ser815=)
c.2256G>T (p.Ser752=)
c.2427G>T (p.Ser809=)
c.2238G>T (p.Ser746=)
n.1367G>T
c.2199G>T (p.Ser733=)
c.2412G>T (p.Ser804=)
c.1011G>T (p.Ser337=)
c.993G>T (p.Ser331=)
n.2532G>T
 gnomAD v4
22g.19973030C=CA2396130964ARVCFc.2445G= (p.Ser815=)
c.2256G= (p.Ser752=)
c.2427G= (p.Ser809=)
c.2238G= (p.Ser746=)
n.1367G=
c.2199G= (p.Ser733=)
c.2412G= (p.Ser804=)
c.1011G= (p.Ser337=)
c.993G= (p.Ser331=)
n.2532G=
22g.19973030C>GCA513689181ARVCFc.2445G>C (p.Ser815=)
c.2256G>C (p.Ser752=)
c.2427G>C (p.Ser809=)
c.2238G>C (p.Ser746=)
n.1367G>C
c.2199G>C (p.Ser733=)
c.2412G>C (p.Ser804=)
c.1011G>C (p.Ser337=)
c.993G>C (p.Ser331=)
n.2532G>C
22g.19973030C>TCA513689182ARVCFc.2445G>A (p.Ser815=)
c.2256G>A (p.Ser752=)
c.2427G>A (p.Ser809=)
c.2238G>A (p.Ser746=)
n.1367G>A
c.2199G>A (p.Ser733=)
c.2412G>A (p.Ser804=)
c.1011G>A (p.Ser337=)
c.993G>A (p.Ser331=)
n.2532G>A
 dbSNP gnomAD v4
22g.19973031G>ACA10105112ARVCFc.2444C>T (p.Ser815Leu)
c.2255C>T (p.Ser752Leu)
c.2426C>T (p.Ser809Leu)
c.2237C>T (p.Ser746Leu)
n.1366C>T
c.2198C>T (p.Ser733Leu)
c.2411C>T (p.Ser804Leu)
c.1010C>T (p.Ser337Leu)
c.992C>T (p.Ser331Leu)
n.2531C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.19973031G>CCA10105111ARVCFc.2444C>G (p.Ser815Trp)
c.2255C>G (p.Ser752Trp)
c.2426C>G (p.Ser809Trp)
c.2237C>G (p.Ser746Trp)
n.1366C>G
c.2198C>G (p.Ser733Trp)
c.2411C>G (p.Ser804Trp)
c.1010C>G (p.Ser337Trp)
c.992C>G (p.Ser331Trp)
n.2531C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19973031G=CA2396130965ARVCFc.2444C= (p.Ser815=)
c.2255C= (p.Ser752=)
c.2426C= (p.Ser809=)
c.2237C= (p.Ser746=)
n.1366C=
c.2198C= (p.Ser733=)
c.2411C= (p.Ser804=)
c.1010C= (p.Ser337=)
c.992C= (p.Ser331=)
n.2531C=
22g.19973031G>TCA410694917ARVCFc.2444C>A (p.Ser815Ter)
c.2255C>A (p.Ser752Ter)
c.2426C>A (p.Ser809Ter)
c.2237C>A (p.Ser746Ter)
n.1366C>A
c.2198C>A (p.Ser733Ter)
c.2411C>A (p.Ser804Ter)
c.1010C>A (p.Ser337Ter)
c.992C>A (p.Ser331Ter)
n.2531C>A
22g.19973032A>CCA410694918ARVCFc.2443T>G (p.Ser815Ala)
c.2254T>G (p.Ser752Ala)
c.2425T>G (p.Ser809Ala)
c.2236T>G (p.Ser746Ala)
n.1365T>G
c.2197T>G (p.Ser733Ala)
c.2410T>G (p.Ser804Ala)
c.1009T>G (p.Ser337Ala)
c.991T>G (p.Ser331Ala)
n.2530T>G
 dbSNP gnomAD v3 gnomAD v4
22g.19973032A>GCA410694919ARVCFc.2443T>C (p.Ser815Pro)
c.2254T>C (p.Ser752Pro)
c.2425T>C (p.Ser809Pro)
c.2236T>C (p.Ser746Pro)
n.1365T>C
c.2197T>C (p.Ser733Pro)
c.2410T>C (p.Ser804Pro)
c.1009T>C (p.Ser337Pro)
c.991T>C (p.Ser331Pro)
n.2530T>C
22g.19973032A>TCA410694920ARVCFc.2443T>A (p.Ser815Thr)
c.2254T>A (p.Ser752Thr)
c.2425T>A (p.Ser809Thr)
c.2236T>A (p.Ser746Thr)
n.1365T>A
c.2197T>A (p.Ser733Thr)
c.2410T>A (p.Ser804Thr)
c.1009T>A (p.Ser337Thr)
c.991T>A (p.Ser331Thr)
n.2530T>A

Number of alleles fetched