Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.113345961C>ACA357913262ANK2c.4451C>A (p.Thr1484Lys)
c.4391C>A (p.Thr1464Lys)
c.992C>A (p.Thr331Lys)
n.2493C>A
n.1947C>A
n.1155C>A
n.5947C>A
n.3824C>A
n.1926C>A
n.3323C>A
n.2690C>A
n.2036C>A
n.2454C>A
c.4310C>A (p.Thr1437Lys)
c.4148C>A (p.Thr1383Lys)
c.1697C>A (p.Thr566Lys)
c.20C>A (p.Thr7Lys)
c.4124C>A (p.Thr1375Lys)
c.4211C>A (p.Thr1404Lys)
c.4346C>A (p.Thr1449Lys)
c.4247C>A (p.Thr1416Lys)
c.4184C>A (p.Thr1395Lys)
c.4049C>A (p.Thr1350Lys)
c.4127C>A (p.Thr1376Lys)
c.3926C>A (p.Thr1309Lys)
c.4025C>A (p.Thr1342Lys)
c.4355C>A (p.Thr1452Lys)
c.4160C>A (p.Thr1387Lys)
c.4145C>A (p.Thr1382Lys)
c.4133C>A (p.Thr1378Lys)
c.4112C>A (p.Thr1371Lys)
c.4085C>A (p.Thr1362Lys)
c.4283C>A (p.Thr1428Lys)
c.1874C>A (p.Thr625Lys)
c.3728C>A (p.Thr1243Lys)
c.1859C>A (p.Thr620Lys)
c.1838C>A (p.Thr613Lys)
c.4256C>A (p.Thr1419Lys)
c.4109C>A (p.Thr1370Lys)
c.3818C>A (p.Thr1273Lys)
c.267C>A
c.266C>A (p.Thr89Lys)
c.1347C>A
c.4343C>A (p.Thr1448Lys)
c.4307C>A (p.Thr1436Lys)
c.4397C>A (p.Thr1466Lys)
c.4361C>A (p.Thr1454Lys)
c.4337C>A (p.Thr1446Lys)
c.4382C>A (p.Thr1461Lys)
c.4322C>A (p.Thr1441Lys)
c.4289C>A (p.Thr1430Lys)
c.4352C>A (p.Thr1451Lys)
c.4208C>A (p.Thr1403Lys)
c.4388C>A (p.Thr1463Lys)
c.4280C>A (p.Thr1427Lys)
c.4244C>A (p.Thr1415Lys)
c.4259C>A (p.Thr1420Lys)
c.4169C>A (p.Thr1390Lys)
c.4097C>A (p.Thr1366Lys)
c.4181C>A (p.Thr1394Lys)
c.4010C>A (p.Thr1337Lys)
c.4427C>A (p.Thr1476Lys)
c.4313C>A (p.Thr1438Lys)
c.4295C>A (p.Thr1432Lys)
c.4367C>A (p.Thr1456Lys)
c.3827C>A (p.Thr1276Lys)
c.4154C>A (p.Thr1385Lys)
c.710C>A (p.Thr237Lys)
c.4175C>A (p.Thr1392Lys)
4g.113345961C>GCA357913264ANK2c.4451C>G (p.Thr1484Arg)
c.4391C>G (p.Thr1464Arg)
c.992C>G (p.Thr331Arg)
n.2493C>G
n.1947C>G
n.1155C>G
n.5947C>G
n.3824C>G
n.1926C>G
n.3323C>G
n.2690C>G
n.2036C>G
n.2454C>G
c.4310C>G (p.Thr1437Arg)
c.4148C>G (p.Thr1383Arg)
c.1697C>G (p.Thr566Arg)
c.20C>G (p.Thr7Arg)
c.4124C>G (p.Thr1375Arg)
c.4211C>G (p.Thr1404Arg)
c.4346C>G (p.Thr1449Arg)
c.4247C>G (p.Thr1416Arg)
c.4184C>G (p.Thr1395Arg)
c.4049C>G (p.Thr1350Arg)
c.4127C>G (p.Thr1376Arg)
c.3926C>G (p.Thr1309Arg)
c.4025C>G (p.Thr1342Arg)
c.4355C>G (p.Thr1452Arg)
c.4160C>G (p.Thr1387Arg)
c.4145C>G (p.Thr1382Arg)
c.4133C>G (p.Thr1378Arg)
c.4112C>G (p.Thr1371Arg)
c.4085C>G (p.Thr1362Arg)
c.4283C>G (p.Thr1428Arg)
c.1874C>G (p.Thr625Arg)
c.3728C>G (p.Thr1243Arg)
c.1859C>G (p.Thr620Arg)
c.1838C>G (p.Thr613Arg)
c.4256C>G (p.Thr1419Arg)
c.4109C>G (p.Thr1370Arg)
c.3818C>G (p.Thr1273Arg)
c.267C>G
c.266C>G (p.Thr89Arg)
c.1347C>G
c.4343C>G (p.Thr1448Arg)
c.4307C>G (p.Thr1436Arg)
c.4397C>G (p.Thr1466Arg)
c.4361C>G (p.Thr1454Arg)
c.4337C>G (p.Thr1446Arg)
c.4382C>G (p.Thr1461Arg)
c.4322C>G (p.Thr1441Arg)
c.4289C>G (p.Thr1430Arg)
c.4352C>G (p.Thr1451Arg)
c.4208C>G (p.Thr1403Arg)
c.4388C>G (p.Thr1463Arg)
c.4280C>G (p.Thr1427Arg)
c.4244C>G (p.Thr1415Arg)
c.4259C>G (p.Thr1420Arg)
c.4169C>G (p.Thr1390Arg)
c.4097C>G (p.Thr1366Arg)
c.4181C>G (p.Thr1394Arg)
c.4010C>G (p.Thr1337Arg)
c.4427C>G (p.Thr1476Arg)
c.4313C>G (p.Thr1438Arg)
c.4295C>G (p.Thr1432Arg)
c.4367C>G (p.Thr1456Arg)
c.3827C>G (p.Thr1276Arg)
c.4154C>G (p.Thr1385Arg)
c.710C>G (p.Thr237Arg)
c.4175C>G (p.Thr1392Arg)
4g.113345961C>TCA300913ANK2c.4451C>T (p.Thr1484Met)
c.4391C>T (p.Thr1464Met)
c.992C>T (p.Thr331Met)
n.2493C>T
n.1947C>T
n.1155C>T
n.5947C>T
n.3824C>T
n.1926C>T
n.3323C>T
n.2690C>T
n.2036C>T
n.2454C>T
c.4310C>T (p.Thr1437Met)
c.4148C>T (p.Thr1383Met)
c.1697C>T (p.Thr566Met)
c.20C>T (p.Thr7Met)
c.4124C>T (p.Thr1375Met)
c.4211C>T (p.Thr1404Met)
c.4346C>T (p.Thr1449Met)
c.4247C>T (p.Thr1416Met)
c.4184C>T (p.Thr1395Met)
c.4049C>T (p.Thr1350Met)
c.4127C>T (p.Thr1376Met)
c.3926C>T (p.Thr1309Met)
c.4025C>T (p.Thr1342Met)
c.4355C>T (p.Thr1452Met)
c.4160C>T (p.Thr1387Met)
c.4145C>T (p.Thr1382Met)
c.4133C>T (p.Thr1378Met)
c.4112C>T (p.Thr1371Met)
c.4085C>T (p.Thr1362Met)
c.4283C>T (p.Thr1428Met)
c.1874C>T (p.Thr625Met)
c.3728C>T (p.Thr1243Met)
c.1859C>T (p.Thr620Met)
c.1838C>T (p.Thr613Met)
c.4256C>T (p.Thr1419Met)
c.4109C>T (p.Thr1370Met)
c.3818C>T (p.Thr1273Met)
c.267C>T
c.266C>T (p.Thr89Met)
c.1347C>T
c.4343C>T (p.Thr1448Met)
c.4307C>T (p.Thr1436Met)
c.4397C>T (p.Thr1466Met)
c.4361C>T (p.Thr1454Met)
c.4337C>T (p.Thr1446Met)
c.4382C>T (p.Thr1461Met)
c.4322C>T (p.Thr1441Met)
c.4289C>T (p.Thr1430Met)
c.4352C>T (p.Thr1451Met)
c.4208C>T (p.Thr1403Met)
c.4388C>T (p.Thr1463Met)
c.4280C>T (p.Thr1427Met)
c.4244C>T (p.Thr1415Met)
c.4259C>T (p.Thr1420Met)
c.4169C>T (p.Thr1390Met)
c.4097C>T (p.Thr1366Met)
c.4181C>T (p.Thr1394Met)
c.4010C>T (p.Thr1337Met)
c.4427C>T (p.Thr1476Met)
c.4313C>T (p.Thr1438Met)
c.4295C>T (p.Thr1432Met)
c.4367C>T (p.Thr1456Met)
c.3827C>T (p.Thr1276Met)
c.4154C>T (p.Thr1385Met)
c.710C>T (p.Thr237Met)
c.4175C>T (p.Thr1392Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.113345961_113345962delinsTACA103806765ANK2c.4451_4452delinsTA (p.Thr1484Ile)
c.4391_4392delinsTA (p.Thr1464Ile)
c.992_993delinsTA (p.Thr331Ile)
n.2493_2494delinsTA
n.1947_1948delinsTA
n.1155_1156delinsTA
n.5947_5948delinsTA
n.3824_3825delinsTA
n.1926_1927delinsTA
n.3323_3324delinsTA
n.2690_2691delinsTA
n.2036_2037delinsTA
n.2454_2455delinsTA
c.4310_4311delinsTA (p.Thr1437Ile)
c.4148_4149delinsTA (p.Thr1383Ile)
c.1697_1698delinsTA (p.Thr566Ile)
c.20_21delinsTA (p.Thr7Ile)
c.4124_4125delinsTA (p.Thr1375Ile)
c.4211_4212delinsTA (p.Thr1404Ile)
c.4346_4347delinsTA (p.Thr1449Ile)
c.4247_4248delinsTA (p.Thr1416Ile)
c.4184_4185delinsTA (p.Thr1395Ile)
c.4049_4050delinsTA (p.Thr1350Ile)
c.4127_4128delinsTA (p.Thr1376Ile)
c.3926_3927delinsTA (p.Thr1309Ile)
c.4025_4026delinsTA (p.Thr1342Ile)
c.4355_4356delinsTA (p.Thr1452Ile)
c.4160_4161delinsTA (p.Thr1387Ile)
c.4145_4146delinsTA (p.Thr1382Ile)
c.4133_4134delinsTA (p.Thr1378Ile)
c.4112_4113delinsTA (p.Thr1371Ile)
c.4085_4086delinsTA (p.Thr1362Ile)
c.4283_4284delinsTA (p.Thr1428Ile)
c.1874_1875delinsTA (p.Thr625Ile)
c.3728_3729delinsTA (p.Thr1243Ile)
c.1859_1860delinsTA (p.Thr620Ile)
c.1838_1839delinsTA (p.Thr613Ile)
c.4256_4257delinsTA (p.Thr1419Ile)
c.4109_4110delinsTA (p.Thr1370Ile)
c.3818_3819delinsTA (p.Thr1273Ile)
c.267_268delinsTA
c.266_267delinsTA (p.Thr89Ile)
c.1347_1348delinsTA
c.4343_4344delinsTA (p.Thr1448Ile)
c.4307_4308delinsTA (p.Thr1436Ile)
c.4397_4398delinsTA (p.Thr1466Ile)
c.4361_4362delinsTA (p.Thr1454Ile)
c.4337_4338delinsTA (p.Thr1446Ile)
c.4382_4383delinsTA (p.Thr1461Ile)
c.4322_4323delinsTA (p.Thr1441Ile)
c.4289_4290delinsTA (p.Thr1430Ile)
c.4352_4353delinsTA (p.Thr1451Ile)
c.4208_4209delinsTA (p.Thr1403Ile)
c.4388_4389delinsTA (p.Thr1463Ile)
c.4280_4281delinsTA (p.Thr1427Ile)
c.4244_4245delinsTA (p.Thr1415Ile)
c.4259_4260delinsTA (p.Thr1420Ile)
c.4169_4170delinsTA (p.Thr1390Ile)
c.4097_4098delinsTA (p.Thr1366Ile)
c.4181_4182delinsTA (p.Thr1394Ile)
c.4010_4011delinsTA (p.Thr1337Ile)
c.4427_4428delinsTA (p.Thr1476Ile)
c.4313_4314delinsTA (p.Thr1438Ile)
c.4295_4296delinsTA (p.Thr1432Ile)
c.4367_4368delinsTA (p.Thr1456Ile)
c.3827_3828delinsTA (p.Thr1276Ile)
c.4154_4155delinsTA (p.Thr1385Ile)
c.710_711delinsTA (p.Thr237Ile)
c.4175_4176delinsTA (p.Thr1392Ile)
dbSNP
4g.113345962G>ACA3051046ANK2c.4452G>A (p.Thr1484=)
c.4392G>A (p.Thr1464=)
c.993G>A (p.Thr331=)
n.2494G>A
n.1948G>A
n.1156G>A
n.5948G>A
n.3825G>A
n.1927G>A
n.3324G>A
n.2691G>A
n.2037G>A
n.2455G>A
c.4311G>A (p.Thr1437=)
c.4149G>A (p.Thr1383=)
c.1698G>A (p.Thr566=)
c.21G>A (p.Thr7=)
c.4125G>A (p.Thr1375=)
c.4212G>A (p.Thr1404=)
c.4347G>A (p.Thr1449=)
c.4248G>A (p.Thr1416=)
c.4185G>A (p.Thr1395=)
c.4050G>A (p.Thr1350=)
c.4128G>A (p.Thr1376=)
c.3927G>A (p.Thr1309=)
c.4026G>A (p.Thr1342=)
c.4356G>A (p.Thr1452=)
c.4161G>A (p.Thr1387=)
c.4146G>A (p.Thr1382=)
c.4134G>A (p.Thr1378=)
c.4113G>A (p.Thr1371=)
c.4086G>A (p.Thr1362=)
c.4284G>A (p.Thr1428=)
c.1875G>A (p.Thr625=)
c.3729G>A (p.Thr1243=)
c.1860G>A (p.Thr620=)
c.1839G>A (p.Thr613=)
c.4257G>A (p.Thr1419=)
c.4110G>A (p.Thr1370=)
c.3819G>A (p.Thr1273=)
c.268G>A
c.267G>A (p.Thr89=)
c.1348G>A
c.4344G>A (p.Thr1448=)
c.4308G>A (p.Thr1436=)
c.4398G>A (p.Thr1466=)
c.4362G>A (p.Thr1454=)
c.4338G>A (p.Thr1446=)
c.4383G>A (p.Thr1461=)
c.4323G>A (p.Thr1441=)
c.4290G>A (p.Thr1430=)
c.4353G>A (p.Thr1451=)
c.4209G>A (p.Thr1403=)
c.4389G>A (p.Thr1463=)
c.4281G>A (p.Thr1427=)
c.4245G>A (p.Thr1415=)
c.4260G>A (p.Thr1420=)
c.4170G>A (p.Thr1390=)
c.4098G>A (p.Thr1366=)
c.4182G>A (p.Thr1394=)
c.4011G>A (p.Thr1337=)
c.4428G>A (p.Thr1476=)
c.4314G>A (p.Thr1438=)
c.4296G>A (p.Thr1432=)
c.4368G>A (p.Thr1456=)
c.3828G>A (p.Thr1276=)
c.4155G>A (p.Thr1385=)
c.711G>A (p.Thr237=)
c.4176G>A (p.Thr1392=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.113345962G>CCA3051045ANK2c.4452G>C (p.Thr1484=)
c.4392G>C (p.Thr1464=)
c.993G>C (p.Thr331=)
n.2494G>C
n.1948G>C
n.1156G>C
n.5948G>C
n.3825G>C
n.1927G>C
n.3324G>C
n.2691G>C
n.2037G>C
n.2455G>C
c.4311G>C (p.Thr1437=)
c.4149G>C (p.Thr1383=)
c.1698G>C (p.Thr566=)
c.21G>C (p.Thr7=)
c.4125G>C (p.Thr1375=)
c.4212G>C (p.Thr1404=)
c.4347G>C (p.Thr1449=)
c.4248G>C (p.Thr1416=)
c.4185G>C (p.Thr1395=)
c.4050G>C (p.Thr1350=)
c.4128G>C (p.Thr1376=)
c.3927G>C (p.Thr1309=)
c.4026G>C (p.Thr1342=)
c.4356G>C (p.Thr1452=)
c.4161G>C (p.Thr1387=)
c.4146G>C (p.Thr1382=)
c.4134G>C (p.Thr1378=)
c.4113G>C (p.Thr1371=)
c.4086G>C (p.Thr1362=)
c.4284G>C (p.Thr1428=)
c.1875G>C (p.Thr625=)
c.3729G>C (p.Thr1243=)
c.1860G>C (p.Thr620=)
c.1839G>C (p.Thr613=)
c.4257G>C (p.Thr1419=)
c.4110G>C (p.Thr1370=)
c.3819G>C (p.Thr1273=)
c.268G>C
c.267G>C (p.Thr89=)
c.1348G>C
c.4344G>C (p.Thr1448=)
c.4308G>C (p.Thr1436=)
c.4398G>C (p.Thr1466=)
c.4362G>C (p.Thr1454=)
c.4338G>C (p.Thr1446=)
c.4383G>C (p.Thr1461=)
c.4323G>C (p.Thr1441=)
c.4290G>C (p.Thr1430=)
c.4353G>C (p.Thr1451=)
c.4209G>C (p.Thr1403=)
c.4389G>C (p.Thr1463=)
c.4281G>C (p.Thr1427=)
c.4245G>C (p.Thr1415=)
c.4260G>C (p.Thr1420=)
c.4170G>C (p.Thr1390=)
c.4098G>C (p.Thr1366=)
c.4182G>C (p.Thr1394=)
c.4011G>C (p.Thr1337=)
c.4428G>C (p.Thr1476=)
c.4314G>C (p.Thr1438=)
c.4296G>C (p.Thr1432=)
c.4368G>C (p.Thr1456=)
c.3828G>C (p.Thr1276=)
c.4155G>C (p.Thr1385=)
c.711G>C (p.Thr237=)
c.4176G>C (p.Thr1392=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.113345962G>TCA3051047ANK2c.4452G>T (p.Thr1484=)
c.4392G>T (p.Thr1464=)
c.993G>T (p.Thr331=)
n.2494G>T
n.1948G>T
n.1156G>T
n.5948G>T
n.3825G>T
n.1927G>T
n.3324G>T
n.2691G>T
n.2037G>T
n.2455G>T
c.4311G>T (p.Thr1437=)
c.4149G>T (p.Thr1383=)
c.1698G>T (p.Thr566=)
c.21G>T (p.Thr7=)
c.4125G>T (p.Thr1375=)
c.4212G>T (p.Thr1404=)
c.4347G>T (p.Thr1449=)
c.4248G>T (p.Thr1416=)
c.4185G>T (p.Thr1395=)
c.4050G>T (p.Thr1350=)
c.4128G>T (p.Thr1376=)
c.3927G>T (p.Thr1309=)
c.4026G>T (p.Thr1342=)
c.4356G>T (p.Thr1452=)
c.4161G>T (p.Thr1387=)
c.4146G>T (p.Thr1382=)
c.4134G>T (p.Thr1378=)
c.4113G>T (p.Thr1371=)
c.4086G>T (p.Thr1362=)
c.4284G>T (p.Thr1428=)
c.1875G>T (p.Thr625=)
c.3729G>T (p.Thr1243=)
c.1860G>T (p.Thr620=)
c.1839G>T (p.Thr613=)
c.4257G>T (p.Thr1419=)
c.4110G>T (p.Thr1370=)
c.3819G>T (p.Thr1273=)
c.268G>T
c.267G>T (p.Thr89=)
c.1348G>T
c.4344G>T (p.Thr1448=)
c.4308G>T (p.Thr1436=)
c.4398G>T (p.Thr1466=)
c.4362G>T (p.Thr1454=)
c.4338G>T (p.Thr1446=)
c.4383G>T (p.Thr1461=)
c.4323G>T (p.Thr1441=)
c.4290G>T (p.Thr1430=)
c.4353G>T (p.Thr1451=)
c.4209G>T (p.Thr1403=)
c.4389G>T (p.Thr1463=)
c.4281G>T (p.Thr1427=)
c.4245G>T (p.Thr1415=)
c.4260G>T (p.Thr1420=)
c.4170G>T (p.Thr1390=)
c.4098G>T (p.Thr1366=)
c.4182G>T (p.Thr1394=)
c.4011G>T (p.Thr1337=)
c.4428G>T (p.Thr1476=)
c.4314G>T (p.Thr1438=)
c.4296G>T (p.Thr1432=)
c.4368G>T (p.Thr1456=)
c.3828G>T (p.Thr1276=)
c.4155G>T (p.Thr1385=)
c.711G>T (p.Thr237=)
c.4176G>T (p.Thr1392=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.113345963A>CCA440825295ANK2c.4453A>C (p.Arg1485=)
c.4393A>C (p.Arg1465=)
c.994A>C (p.Arg332=)
n.2495A>C
n.1949A>C
n.1157A>C
n.5949A>C
n.3826A>C
n.1928A>C
n.3325A>C
n.2692A>C
n.2038A>C
n.2456A>C
c.4312A>C (p.Arg1438=)
c.4150A>C (p.Arg1384=)
c.1699A>C (p.Arg567=)
c.22A>C (p.Arg8=)
c.4126A>C (p.Arg1376=)
c.4213A>C (p.Arg1405=)
c.4348A>C (p.Arg1450=)
c.4249A>C (p.Arg1417=)
c.4186A>C (p.Arg1396=)
c.4051A>C (p.Arg1351=)
c.4129A>C (p.Arg1377=)
c.3928A>C (p.Arg1310=)
c.4027A>C (p.Arg1343=)
c.4357A>C (p.Arg1453=)
c.4162A>C (p.Arg1388=)
c.4147A>C (p.Arg1383=)
c.4135A>C (p.Arg1379=)
c.4114A>C (p.Arg1372=)
c.4087A>C (p.Arg1363=)
c.4285A>C (p.Arg1429=)
c.1876A>C (p.Arg626=)
c.3730A>C (p.Arg1244=)
c.1861A>C (p.Arg621=)
c.1840A>C (p.Arg614=)
c.4258A>C (p.Arg1420=)
c.4111A>C (p.Arg1371=)
c.3820A>C (p.Arg1274=)
c.269A>C
c.268A>C (p.Arg90=)
c.1349A>C
c.4345A>C (p.Arg1449=)
c.4309A>C (p.Arg1437=)
c.4399A>C (p.Arg1467=)
c.4363A>C (p.Arg1455=)
c.4339A>C (p.Arg1447=)
c.4384A>C (p.Arg1462=)
c.4324A>C (p.Arg1442=)
c.4291A>C (p.Arg1431=)
c.4354A>C (p.Arg1452=)
c.4210A>C (p.Arg1404=)
c.4390A>C (p.Arg1464=)
c.4282A>C (p.Arg1428=)
c.4246A>C (p.Arg1416=)
c.4261A>C (p.Arg1421=)
c.4171A>C (p.Arg1391=)
c.4099A>C (p.Arg1367=)
c.4183A>C (p.Arg1395=)
c.4012A>C (p.Arg1338=)
c.4429A>C (p.Arg1477=)
c.4315A>C (p.Arg1439=)
c.4297A>C (p.Arg1433=)
c.4369A>C (p.Arg1457=)
c.3829A>C (p.Arg1277=)
c.4156A>C (p.Arg1386=)
c.712A>C (p.Arg238=)
c.4177A>C (p.Arg1393=)
4g.113345963A>GCA357913270ANK2c.4453A>G (p.Arg1485Gly)
c.4393A>G (p.Arg1465Gly)
c.994A>G (p.Arg332Gly)
n.2495A>G
n.1949A>G
n.1157A>G
n.5949A>G
n.3826A>G
n.1928A>G
n.3325A>G
n.2692A>G
n.2038A>G
n.2456A>G
c.4312A>G (p.Arg1438Gly)
c.4150A>G (p.Arg1384Gly)
c.1699A>G (p.Arg567Gly)
c.22A>G (p.Arg8Gly)
c.4126A>G (p.Arg1376Gly)
c.4213A>G (p.Arg1405Gly)
c.4348A>G (p.Arg1450Gly)
c.4249A>G (p.Arg1417Gly)
c.4186A>G (p.Arg1396Gly)
c.4051A>G (p.Arg1351Gly)
c.4129A>G (p.Arg1377Gly)
c.3928A>G (p.Arg1310Gly)
c.4027A>G (p.Arg1343Gly)
c.4357A>G (p.Arg1453Gly)
c.4162A>G (p.Arg1388Gly)
c.4147A>G (p.Arg1383Gly)
c.4135A>G (p.Arg1379Gly)
c.4114A>G (p.Arg1372Gly)
c.4087A>G (p.Arg1363Gly)
c.4285A>G (p.Arg1429Gly)
c.1876A>G (p.Arg626Gly)
c.3730A>G (p.Arg1244Gly)
c.1861A>G (p.Arg621Gly)
c.1840A>G (p.Arg614Gly)
c.4258A>G (p.Arg1420Gly)
c.4111A>G (p.Arg1371Gly)
c.3820A>G (p.Arg1274Gly)
c.269A>G
c.268A>G (p.Arg90Gly)
c.1349A>G
c.4345A>G (p.Arg1449Gly)
c.4309A>G (p.Arg1437Gly)
c.4399A>G (p.Arg1467Gly)
c.4363A>G (p.Arg1455Gly)
c.4339A>G (p.Arg1447Gly)
c.4384A>G (p.Arg1462Gly)
c.4324A>G (p.Arg1442Gly)
c.4291A>G (p.Arg1431Gly)
c.4354A>G (p.Arg1452Gly)
c.4210A>G (p.Arg1404Gly)
c.4390A>G (p.Arg1464Gly)
c.4282A>G (p.Arg1428Gly)
c.4246A>G (p.Arg1416Gly)
c.4261A>G (p.Arg1421Gly)
c.4171A>G (p.Arg1391Gly)
c.4099A>G (p.Arg1367Gly)
c.4183A>G (p.Arg1395Gly)
c.4012A>G (p.Arg1338Gly)
c.4429A>G (p.Arg1477Gly)
c.4315A>G (p.Arg1439Gly)
c.4297A>G (p.Arg1433Gly)
c.4369A>G (p.Arg1457Gly)
c.3829A>G (p.Arg1277Gly)
c.4156A>G (p.Arg1386Gly)
c.712A>G (p.Arg238Gly)
c.4177A>G (p.Arg1393Gly)
gnomAD v4
4g.113345963A>TCA357913271ANK2c.4453A>T (p.Arg1485Ter)
c.4393A>T (p.Arg1465Ter)
c.994A>T (p.Arg332Ter)
n.2495A>T
n.1949A>T
n.1157A>T
n.5949A>T
n.3826A>T
n.1928A>T
n.3325A>T
n.2692A>T
n.2038A>T
n.2456A>T
c.4312A>T (p.Arg1438Ter)
c.4150A>T (p.Arg1384Ter)
c.1699A>T (p.Arg567Ter)
c.22A>T (p.Arg8Ter)
c.4126A>T (p.Arg1376Ter)
c.4213A>T (p.Arg1405Ter)
c.4348A>T (p.Arg1450Ter)
c.4249A>T (p.Arg1417Ter)
c.4186A>T (p.Arg1396Ter)
c.4051A>T (p.Arg1351Ter)
c.4129A>T (p.Arg1377Ter)
c.3928A>T (p.Arg1310Ter)
c.4027A>T (p.Arg1343Ter)
c.4357A>T (p.Arg1453Ter)
c.4162A>T (p.Arg1388Ter)
c.4147A>T (p.Arg1383Ter)
c.4135A>T (p.Arg1379Ter)
c.4114A>T (p.Arg1372Ter)
c.4087A>T (p.Arg1363Ter)
c.4285A>T (p.Arg1429Ter)
c.1876A>T (p.Arg626Ter)
c.3730A>T (p.Arg1244Ter)
c.1861A>T (p.Arg621Ter)
c.1840A>T (p.Arg614Ter)
c.4258A>T (p.Arg1420Ter)
c.4111A>T (p.Arg1371Ter)
c.3820A>T (p.Arg1274Ter)
c.269A>T
c.268A>T (p.Arg90Ter)
c.1349A>T
c.4345A>T (p.Arg1449Ter)
c.4309A>T (p.Arg1437Ter)
c.4399A>T (p.Arg1467Ter)
c.4363A>T (p.Arg1455Ter)
c.4339A>T (p.Arg1447Ter)
c.4384A>T (p.Arg1462Ter)
c.4324A>T (p.Arg1442Ter)
c.4291A>T (p.Arg1431Ter)
c.4354A>T (p.Arg1452Ter)
c.4210A>T (p.Arg1404Ter)
c.4390A>T (p.Arg1464Ter)
c.4282A>T (p.Arg1428Ter)
c.4246A>T (p.Arg1416Ter)
c.4261A>T (p.Arg1421Ter)
c.4171A>T (p.Arg1391Ter)
c.4099A>T (p.Arg1367Ter)
c.4183A>T (p.Arg1395Ter)
c.4012A>T (p.Arg1338Ter)
c.4429A>T (p.Arg1477Ter)
c.4315A>T (p.Arg1439Ter)
c.4297A>T (p.Arg1433Ter)
c.4369A>T (p.Arg1457Ter)
c.3829A>T (p.Arg1277Ter)
c.4156A>T (p.Arg1386Ter)
c.712A>T (p.Arg238Ter)
c.4177A>T (p.Arg1393Ter)
4g.113345964G>ACA357913274ANK2c.4454G>A (p.Arg1485Lys)
c.4394G>A (p.Arg1465Lys)
c.995G>A (p.Arg332Lys)
n.2496G>A
n.1950G>A
n.1158G>A
n.5950G>A
n.3827G>A
n.1929G>A
n.3326G>A
n.2693G>A
n.2039G>A
n.2457G>A
c.4313G>A (p.Arg1438Lys)
c.4151G>A (p.Arg1384Lys)
c.1700G>A (p.Arg567Lys)
c.23G>A (p.Arg8Lys)
c.4127G>A (p.Arg1376Lys)
c.4214G>A (p.Arg1405Lys)
c.4349G>A (p.Arg1450Lys)
c.4250G>A (p.Arg1417Lys)
c.4187G>A (p.Arg1396Lys)
c.4052G>A (p.Arg1351Lys)
c.4130G>A (p.Arg1377Lys)
c.3929G>A (p.Arg1310Lys)
c.4028G>A (p.Arg1343Lys)
c.4358G>A (p.Arg1453Lys)
c.4163G>A (p.Arg1388Lys)
c.4148G>A (p.Arg1383Lys)
c.4136G>A (p.Arg1379Lys)
c.4115G>A (p.Arg1372Lys)
c.4088G>A (p.Arg1363Lys)
c.4286G>A (p.Arg1429Lys)
c.1877G>A (p.Arg626Lys)
c.3731G>A (p.Arg1244Lys)
c.1862G>A (p.Arg621Lys)
c.1841G>A (p.Arg614Lys)
c.4259G>A (p.Arg1420Lys)
c.4112G>A (p.Arg1371Lys)
c.3821G>A (p.Arg1274Lys)
c.270G>A
c.269G>A (p.Arg90Lys)
c.1350G>A
c.4346G>A (p.Arg1449Lys)
c.4310G>A (p.Arg1437Lys)
c.4400G>A (p.Arg1467Lys)
c.4364G>A (p.Arg1455Lys)
c.4340G>A (p.Arg1447Lys)
c.4385G>A (p.Arg1462Lys)
c.4325G>A (p.Arg1442Lys)
c.4292G>A (p.Arg1431Lys)
c.4355G>A (p.Arg1452Lys)
c.4211G>A (p.Arg1404Lys)
c.4391G>A (p.Arg1464Lys)
c.4283G>A (p.Arg1428Lys)
c.4247G>A (p.Arg1416Lys)
c.4262G>A (p.Arg1421Lys)
c.4172G>A (p.Arg1391Lys)
c.4100G>A (p.Arg1367Lys)
c.4184G>A (p.Arg1395Lys)
c.4013G>A (p.Arg1338Lys)
c.4430G>A (p.Arg1477Lys)
c.4316G>A (p.Arg1439Lys)
c.4298G>A (p.Arg1433Lys)
c.4370G>A (p.Arg1457Lys)
c.3830G>A (p.Arg1277Lys)
c.4157G>A (p.Arg1386Lys)
c.713G>A (p.Arg238Lys)
c.4178G>A (p.Arg1393Lys)
4g.113345964G>CCA357913275ANK2c.4454G>C (p.Arg1485Thr)
c.4394G>C (p.Arg1465Thr)
c.995G>C (p.Arg332Thr)
n.2496G>C
n.1950G>C
n.1158G>C
n.5950G>C
n.3827G>C
n.1929G>C
n.3326G>C
n.2693G>C
n.2039G>C
n.2457G>C
c.4313G>C (p.Arg1438Thr)
c.4151G>C (p.Arg1384Thr)
c.1700G>C (p.Arg567Thr)
c.23G>C (p.Arg8Thr)
c.4127G>C (p.Arg1376Thr)
c.4214G>C (p.Arg1405Thr)
c.4349G>C (p.Arg1450Thr)
c.4250G>C (p.Arg1417Thr)
c.4187G>C (p.Arg1396Thr)
c.4052G>C (p.Arg1351Thr)
c.4130G>C (p.Arg1377Thr)
c.3929G>C (p.Arg1310Thr)
c.4028G>C (p.Arg1343Thr)
c.4358G>C (p.Arg1453Thr)
c.4163G>C (p.Arg1388Thr)
c.4148G>C (p.Arg1383Thr)
c.4136G>C (p.Arg1379Thr)
c.4115G>C (p.Arg1372Thr)
c.4088G>C (p.Arg1363Thr)
c.4286G>C (p.Arg1429Thr)
c.1877G>C (p.Arg626Thr)
c.3731G>C (p.Arg1244Thr)
c.1862G>C (p.Arg621Thr)
c.1841G>C (p.Arg614Thr)
c.4259G>C (p.Arg1420Thr)
c.4112G>C (p.Arg1371Thr)
c.3821G>C (p.Arg1274Thr)
c.270G>C
c.269G>C (p.Arg90Thr)
c.1350G>C
c.4346G>C (p.Arg1449Thr)
c.4310G>C (p.Arg1437Thr)
c.4400G>C (p.Arg1467Thr)
c.4364G>C (p.Arg1455Thr)
c.4340G>C (p.Arg1447Thr)
c.4385G>C (p.Arg1462Thr)
c.4325G>C (p.Arg1442Thr)
c.4292G>C (p.Arg1431Thr)
c.4355G>C (p.Arg1452Thr)
c.4211G>C (p.Arg1404Thr)
c.4391G>C (p.Arg1464Thr)
c.4283G>C (p.Arg1428Thr)
c.4247G>C (p.Arg1416Thr)
c.4262G>C (p.Arg1421Thr)
c.4172G>C (p.Arg1391Thr)
c.4100G>C (p.Arg1367Thr)
c.4184G>C (p.Arg1395Thr)
c.4013G>C (p.Arg1338Thr)
c.4430G>C (p.Arg1477Thr)
c.4316G>C (p.Arg1439Thr)
c.4298G>C (p.Arg1433Thr)
c.4370G>C (p.Arg1457Thr)
c.3830G>C (p.Arg1277Thr)
c.4157G>C (p.Arg1386Thr)
c.713G>C (p.Arg238Thr)
c.4178G>C (p.Arg1393Thr)
4g.113345964G>TCA357913277ANK2c.4454G>T (p.Arg1485Ile)
c.4394G>T (p.Arg1465Ile)
c.995G>T (p.Arg332Ile)
n.2496G>T
n.1950G>T
n.1158G>T
n.5950G>T
n.3827G>T
n.1929G>T
n.3326G>T
n.2693G>T
n.2039G>T
n.2457G>T
c.4313G>T (p.Arg1438Ile)
c.4151G>T (p.Arg1384Ile)
c.1700G>T (p.Arg567Ile)
c.23G>T (p.Arg8Ile)
c.4127G>T (p.Arg1376Ile)
c.4214G>T (p.Arg1405Ile)
c.4349G>T (p.Arg1450Ile)
c.4250G>T (p.Arg1417Ile)
c.4187G>T (p.Arg1396Ile)
c.4052G>T (p.Arg1351Ile)
c.4130G>T (p.Arg1377Ile)
c.3929G>T (p.Arg1310Ile)
c.4028G>T (p.Arg1343Ile)
c.4358G>T (p.Arg1453Ile)
c.4163G>T (p.Arg1388Ile)
c.4148G>T (p.Arg1383Ile)
c.4136G>T (p.Arg1379Ile)
c.4115G>T (p.Arg1372Ile)
c.4088G>T (p.Arg1363Ile)
c.4286G>T (p.Arg1429Ile)
c.1877G>T (p.Arg626Ile)
c.3731G>T (p.Arg1244Ile)
c.1862G>T (p.Arg621Ile)
c.1841G>T (p.Arg614Ile)
c.4259G>T (p.Arg1420Ile)
c.4112G>T (p.Arg1371Ile)
c.3821G>T (p.Arg1274Ile)
c.270G>T
c.269G>T (p.Arg90Ile)
c.1350G>T
c.4346G>T (p.Arg1449Ile)
c.4310G>T (p.Arg1437Ile)
c.4400G>T (p.Arg1467Ile)
c.4364G>T (p.Arg1455Ile)
c.4340G>T (p.Arg1447Ile)
c.4385G>T (p.Arg1462Ile)
c.4325G>T (p.Arg1442Ile)
c.4292G>T (p.Arg1431Ile)
c.4355G>T (p.Arg1452Ile)
c.4211G>T (p.Arg1404Ile)
c.4391G>T (p.Arg1464Ile)
c.4283G>T (p.Arg1428Ile)
c.4247G>T (p.Arg1416Ile)
c.4262G>T (p.Arg1421Ile)
c.4172G>T (p.Arg1391Ile)
c.4100G>T (p.Arg1367Ile)
c.4184G>T (p.Arg1395Ile)
c.4013G>T (p.Arg1338Ile)
c.4430G>T (p.Arg1477Ile)
c.4316G>T (p.Arg1439Ile)
c.4298G>T (p.Arg1433Ile)
c.4370G>T (p.Arg1457Ile)
c.3830G>T (p.Arg1277Ile)
c.4157G>T (p.Arg1386Ile)
c.713G>T (p.Arg238Ile)
c.4178G>T (p.Arg1393Ile)
4g.113345965A>CCA357913281ANK2c.4455A>C (p.Arg1485Ser)
c.4395A>C (p.Arg1465Ser)
c.996A>C (p.Arg332Ser)
n.2497A>C
n.1951A>C
n.1159A>C
n.5951A>C
n.3828A>C
n.1930A>C
n.3327A>C
n.2694A>C
n.2040A>C
n.2458A>C
c.4314A>C (p.Arg1438Ser)
c.4152A>C (p.Arg1384Ser)
c.1701A>C (p.Arg567Ser)
c.24A>C (p.Arg8Ser)
c.4128A>C (p.Arg1376Ser)
c.4215A>C (p.Arg1405Ser)
c.4350A>C (p.Arg1450Ser)
c.4251A>C (p.Arg1417Ser)
c.4188A>C (p.Arg1396Ser)
c.4053A>C (p.Arg1351Ser)
c.4131A>C (p.Arg1377Ser)
c.3930A>C (p.Arg1310Ser)
c.4029A>C (p.Arg1343Ser)
c.4359A>C (p.Arg1453Ser)
c.4164A>C (p.Arg1388Ser)
c.4149A>C (p.Arg1383Ser)
c.4137A>C (p.Arg1379Ser)
c.4116A>C (p.Arg1372Ser)
c.4089A>C (p.Arg1363Ser)
c.4287A>C (p.Arg1429Ser)
c.1878A>C (p.Arg626Ser)
c.3732A>C (p.Arg1244Ser)
c.1863A>C (p.Arg621Ser)
c.1842A>C (p.Arg614Ser)
c.4260A>C (p.Arg1420Ser)
c.4113A>C (p.Arg1371Ser)
c.3822A>C (p.Arg1274Ser)
c.271A>C
c.270A>C (p.Arg90Ser)
c.1351A>C
c.4347A>C (p.Arg1449Ser)
c.4311A>C (p.Arg1437Ser)
c.4401A>C (p.Arg1467Ser)
c.4365A>C (p.Arg1455Ser)
c.4341A>C (p.Arg1447Ser)
c.4386A>C (p.Arg1462Ser)
c.4326A>C (p.Arg1442Ser)
c.4293A>C (p.Arg1431Ser)
c.4356A>C (p.Arg1452Ser)
c.4212A>C (p.Arg1404Ser)
c.4392A>C (p.Arg1464Ser)
c.4284A>C (p.Arg1428Ser)
c.4248A>C (p.Arg1416Ser)
c.4263A>C (p.Arg1421Ser)
c.4173A>C (p.Arg1391Ser)
c.4101A>C (p.Arg1367Ser)
c.4185A>C (p.Arg1395Ser)
c.4014A>C (p.Arg1338Ser)
c.4431A>C (p.Arg1477Ser)
c.4317A>C (p.Arg1439Ser)
c.4299A>C (p.Arg1433Ser)
c.4371A>C (p.Arg1457Ser)
c.3831A>C (p.Arg1277Ser)
c.4158A>C (p.Arg1386Ser)
c.714A>C (p.Arg238Ser)
c.4179A>C (p.Arg1393Ser)
4g.113345965A>GCA440825297ANK2c.4455A>G (p.Arg1485=)
c.4395A>G (p.Arg1465=)
c.996A>G (p.Arg332=)
n.2497A>G
n.1951A>G
n.1159A>G
n.5951A>G
n.3828A>G
n.1930A>G
n.3327A>G
n.2694A>G
n.2040A>G
n.2458A>G
c.4314A>G (p.Arg1438=)
c.4152A>G (p.Arg1384=)
c.1701A>G (p.Arg567=)
c.24A>G (p.Arg8=)
c.4128A>G (p.Arg1376=)
c.4215A>G (p.Arg1405=)
c.4350A>G (p.Arg1450=)
c.4251A>G (p.Arg1417=)
c.4188A>G (p.Arg1396=)
c.4053A>G (p.Arg1351=)
c.4131A>G (p.Arg1377=)
c.3930A>G (p.Arg1310=)
c.4029A>G (p.Arg1343=)
c.4359A>G (p.Arg1453=)
c.4164A>G (p.Arg1388=)
c.4149A>G (p.Arg1383=)
c.4137A>G (p.Arg1379=)
c.4116A>G (p.Arg1372=)
c.4089A>G (p.Arg1363=)
c.4287A>G (p.Arg1429=)
c.1878A>G (p.Arg626=)
c.3732A>G (p.Arg1244=)
c.1863A>G (p.Arg621=)
c.1842A>G (p.Arg614=)
c.4260A>G (p.Arg1420=)
c.4113A>G (p.Arg1371=)
c.3822A>G (p.Arg1274=)
c.271A>G
c.270A>G (p.Arg90=)
c.1351A>G
c.4347A>G (p.Arg1449=)
c.4311A>G (p.Arg1437=)
c.4401A>G (p.Arg1467=)
c.4365A>G (p.Arg1455=)
c.4341A>G (p.Arg1447=)
c.4386A>G (p.Arg1462=)
c.4326A>G (p.Arg1442=)
c.4293A>G (p.Arg1431=)
c.4356A>G (p.Arg1452=)
c.4212A>G (p.Arg1404=)
c.4392A>G (p.Arg1464=)
c.4284A>G (p.Arg1428=)
c.4248A>G (p.Arg1416=)
c.4263A>G (p.Arg1421=)
c.4173A>G (p.Arg1391=)
c.4101A>G (p.Arg1367=)
c.4185A>G (p.Arg1395=)
c.4014A>G (p.Arg1338=)
c.4431A>G (p.Arg1477=)
c.4317A>G (p.Arg1439=)
c.4299A>G (p.Arg1433=)
c.4371A>G (p.Arg1457=)
c.3831A>G (p.Arg1277=)
c.4158A>G (p.Arg1386=)
c.714A>G (p.Arg238=)
c.4179A>G (p.Arg1393=)
4g.113345965A>TCA357913279ANK2c.4455A>T (p.Arg1485Ser)
c.4395A>T (p.Arg1465Ser)
c.996A>T (p.Arg332Ser)
n.2497A>T
n.1951A>T
n.1159A>T
n.5951A>T
n.3828A>T
n.1930A>T
n.3327A>T
n.2694A>T
n.2040A>T
n.2458A>T
c.4314A>T (p.Arg1438Ser)
c.4152A>T (p.Arg1384Ser)
c.1701A>T (p.Arg567Ser)
c.24A>T (p.Arg8Ser)
c.4128A>T (p.Arg1376Ser)
c.4215A>T (p.Arg1405Ser)
c.4350A>T (p.Arg1450Ser)
c.4251A>T (p.Arg1417Ser)
c.4188A>T (p.Arg1396Ser)
c.4053A>T (p.Arg1351Ser)
c.4131A>T (p.Arg1377Ser)
c.3930A>T (p.Arg1310Ser)
c.4029A>T (p.Arg1343Ser)
c.4359A>T (p.Arg1453Ser)
c.4164A>T (p.Arg1388Ser)
c.4149A>T (p.Arg1383Ser)
c.4137A>T (p.Arg1379Ser)
c.4116A>T (p.Arg1372Ser)
c.4089A>T (p.Arg1363Ser)
c.4287A>T (p.Arg1429Ser)
c.1878A>T (p.Arg626Ser)
c.3732A>T (p.Arg1244Ser)
c.1863A>T (p.Arg621Ser)
c.1842A>T (p.Arg614Ser)
c.4260A>T (p.Arg1420Ser)
c.4113A>T (p.Arg1371Ser)
c.3822A>T (p.Arg1274Ser)
c.271A>T
c.270A>T (p.Arg90Ser)
c.1351A>T
c.4347A>T (p.Arg1449Ser)
c.4311A>T (p.Arg1437Ser)
c.4401A>T (p.Arg1467Ser)
c.4365A>T (p.Arg1455Ser)
c.4341A>T (p.Arg1447Ser)
c.4386A>T (p.Arg1462Ser)
c.4326A>T (p.Arg1442Ser)
c.4293A>T (p.Arg1431Ser)
c.4356A>T (p.Arg1452Ser)
c.4212A>T (p.Arg1404Ser)
c.4392A>T (p.Arg1464Ser)
c.4284A>T (p.Arg1428Ser)
c.4248A>T (p.Arg1416Ser)
c.4263A>T (p.Arg1421Ser)
c.4173A>T (p.Arg1391Ser)
c.4101A>T (p.Arg1367Ser)
c.4185A>T (p.Arg1395Ser)
c.4014A>T (p.Arg1338Ser)
c.4431A>T (p.Arg1477Ser)
c.4317A>T (p.Arg1439Ser)
c.4299A>T (p.Arg1433Ser)
c.4371A>T (p.Arg1457Ser)
c.3831A>T (p.Arg1277Ser)
c.4158A>T (p.Arg1386Ser)
c.714A>T (p.Arg238Ser)
c.4179A>T (p.Arg1393Ser)
4g.113345966G>ACA357913284ANK2c.4456G>A (p.Gly1486Ser)
c.4396G>A (p.Gly1466Ser)
c.997G>A (p.Gly333Ser)
n.2498G>A
n.1952G>A
n.1160G>A
n.5952G>A
n.3829G>A
n.1931G>A
n.3328G>A
n.2695G>A
n.2041G>A
n.2459G>A
c.4315G>A (p.Gly1439Ser)
c.4153G>A (p.Gly1385Ser)
c.1702G>A (p.Gly568Ser)
c.25G>A (p.Gly9Ser)
c.4129G>A (p.Gly1377Ser)
c.4216G>A (p.Gly1406Ser)
c.4351G>A (p.Gly1451Ser)
c.4252G>A (p.Gly1418Ser)
c.4189G>A (p.Gly1397Ser)
c.4054G>A (p.Gly1352Ser)
c.4132G>A (p.Gly1378Ser)
c.3931G>A (p.Gly1311Ser)
c.4030G>A (p.Gly1344Ser)
c.4360G>A (p.Gly1454Ser)
c.4165G>A (p.Gly1389Ser)
c.4150G>A (p.Gly1384Ser)
c.4138G>A (p.Gly1380Ser)
c.4117G>A (p.Gly1373Ser)
c.4090G>A (p.Gly1364Ser)
c.4288G>A (p.Gly1430Ser)
c.1879G>A (p.Gly627Ser)
c.3733G>A (p.Gly1245Ser)
c.1864G>A (p.Gly622Ser)
c.1843G>A (p.Gly615Ser)
c.4261G>A (p.Gly1421Ser)
c.4114G>A (p.Gly1372Ser)
c.3823G>A (p.Gly1275Ser)
c.272G>A
c.271G>A (p.Gly91Ser)
c.1352G>A
c.4348G>A (p.Gly1450Ser)
c.4312G>A (p.Gly1438Ser)
c.4402G>A (p.Gly1468Ser)
c.4366G>A (p.Gly1456Ser)
c.4342G>A (p.Gly1448Ser)
c.4387G>A (p.Gly1463Ser)
c.4327G>A (p.Gly1443Ser)
c.4294G>A (p.Gly1432Ser)
c.4357G>A (p.Gly1453Ser)
c.4213G>A (p.Gly1405Ser)
c.4393G>A (p.Gly1465Ser)
c.4285G>A (p.Gly1429Ser)
c.4249G>A (p.Gly1417Ser)
c.4264G>A (p.Gly1422Ser)
c.4174G>A (p.Gly1392Ser)
c.4102G>A (p.Gly1368Ser)
c.4186G>A (p.Gly1396Ser)
c.4015G>A (p.Gly1339Ser)
c.4432G>A (p.Gly1478Ser)
c.4318G>A (p.Gly1440Ser)
c.4300G>A (p.Gly1434Ser)
c.4372G>A (p.Gly1458Ser)
c.3832G>A (p.Gly1278Ser)
c.4159G>A (p.Gly1387Ser)
c.715G>A (p.Gly239Ser)
c.4180G>A (p.Gly1394Ser)
gnomAD v4
4g.113345966G>CCA357913286ANK2c.4456G>C (p.Gly1486Arg)
c.4396G>C (p.Gly1466Arg)
c.997G>C (p.Gly333Arg)
n.2498G>C
n.1952G>C
n.1160G>C
n.5952G>C
n.3829G>C
n.1931G>C
n.3328G>C
n.2695G>C
n.2041G>C
n.2459G>C
c.4315G>C (p.Gly1439Arg)
c.4153G>C (p.Gly1385Arg)
c.1702G>C (p.Gly568Arg)
c.25G>C (p.Gly9Arg)
c.4129G>C (p.Gly1377Arg)
c.4216G>C (p.Gly1406Arg)
c.4351G>C (p.Gly1451Arg)
c.4252G>C (p.Gly1418Arg)
c.4189G>C (p.Gly1397Arg)
c.4054G>C (p.Gly1352Arg)
c.4132G>C (p.Gly1378Arg)
c.3931G>C (p.Gly1311Arg)
c.4030G>C (p.Gly1344Arg)
c.4360G>C (p.Gly1454Arg)
c.4165G>C (p.Gly1389Arg)
c.4150G>C (p.Gly1384Arg)
c.4138G>C (p.Gly1380Arg)
c.4117G>C (p.Gly1373Arg)
c.4090G>C (p.Gly1364Arg)
c.4288G>C (p.Gly1430Arg)
c.1879G>C (p.Gly627Arg)
c.3733G>C (p.Gly1245Arg)
c.1864G>C (p.Gly622Arg)
c.1843G>C (p.Gly615Arg)
c.4261G>C (p.Gly1421Arg)
c.4114G>C (p.Gly1372Arg)
c.3823G>C (p.Gly1275Arg)
c.272G>C
c.271G>C (p.Gly91Arg)
c.1352G>C
c.4348G>C (p.Gly1450Arg)
c.4312G>C (p.Gly1438Arg)
c.4402G>C (p.Gly1468Arg)
c.4366G>C (p.Gly1456Arg)
c.4342G>C (p.Gly1448Arg)
c.4387G>C (p.Gly1463Arg)
c.4327G>C (p.Gly1443Arg)
c.4294G>C (p.Gly1432Arg)
c.4357G>C (p.Gly1453Arg)
c.4213G>C (p.Gly1405Arg)
c.4393G>C (p.Gly1465Arg)
c.4285G>C (p.Gly1429Arg)
c.4249G>C (p.Gly1417Arg)
c.4264G>C (p.Gly1422Arg)
c.4174G>C (p.Gly1392Arg)
c.4102G>C (p.Gly1368Arg)
c.4186G>C (p.Gly1396Arg)
c.4015G>C (p.Gly1339Arg)
c.4432G>C (p.Gly1478Arg)
c.4318G>C (p.Gly1440Arg)
c.4300G>C (p.Gly1434Arg)
c.4372G>C (p.Gly1458Arg)
c.3832G>C (p.Gly1278Arg)
c.4159G>C (p.Gly1387Arg)
c.715G>C (p.Gly239Arg)
c.4180G>C (p.Gly1394Arg)
4g.113345966G>TCA218791ANK2c.4456G>T (p.Gly1486Cys)
c.4396G>T (p.Gly1466Cys)
c.997G>T (p.Gly333Cys)
n.2498G>T
n.1952G>T
n.1160G>T
n.5952G>T
n.3829G>T
n.1931G>T
n.3328G>T
n.2695G>T
n.2041G>T
n.2459G>T
c.4315G>T (p.Gly1439Cys)
c.4153G>T (p.Gly1385Cys)
c.1702G>T (p.Gly568Cys)
c.25G>T (p.Gly9Cys)
c.4129G>T (p.Gly1377Cys)
c.4216G>T (p.Gly1406Cys)
c.4351G>T (p.Gly1451Cys)
c.4252G>T (p.Gly1418Cys)
c.4189G>T (p.Gly1397Cys)
c.4054G>T (p.Gly1352Cys)
c.4132G>T (p.Gly1378Cys)
c.3931G>T (p.Gly1311Cys)
c.4030G>T (p.Gly1344Cys)
c.4360G>T (p.Gly1454Cys)
c.4165G>T (p.Gly1389Cys)
c.4150G>T (p.Gly1384Cys)
c.4138G>T (p.Gly1380Cys)
c.4117G>T (p.Gly1373Cys)
c.4090G>T (p.Gly1364Cys)
c.4288G>T (p.Gly1430Cys)
c.1879G>T (p.Gly627Cys)
c.3733G>T (p.Gly1245Cys)
c.1864G>T (p.Gly622Cys)
c.1843G>T (p.Gly615Cys)
c.4261G>T (p.Gly1421Cys)
c.4114G>T (p.Gly1372Cys)
c.3823G>T (p.Gly1275Cys)
c.272G>T
c.271G>T (p.Gly91Cys)
c.1352G>T
c.4348G>T (p.Gly1450Cys)
c.4312G>T (p.Gly1438Cys)
c.4402G>T (p.Gly1468Cys)
c.4366G>T (p.Gly1456Cys)
c.4342G>T (p.Gly1448Cys)
c.4387G>T (p.Gly1463Cys)
c.4327G>T (p.Gly1443Cys)
c.4294G>T (p.Gly1432Cys)
c.4357G>T (p.Gly1453Cys)
c.4213G>T (p.Gly1405Cys)
c.4393G>T (p.Gly1465Cys)
c.4285G>T (p.Gly1429Cys)
c.4249G>T (p.Gly1417Cys)
c.4264G>T (p.Gly1422Cys)
c.4174G>T (p.Gly1392Cys)
c.4102G>T (p.Gly1368Cys)
c.4186G>T (p.Gly1396Cys)
c.4015G>T (p.Gly1339Cys)
c.4432G>T (p.Gly1478Cys)
c.4318G>T (p.Gly1440Cys)
c.4300G>T (p.Gly1434Cys)
c.4372G>T (p.Gly1458Cys)
c.3832G>T (p.Gly1278Cys)
c.4159G>T (p.Gly1387Cys)
c.715G>T (p.Gly239Cys)
c.4180G>T (p.Gly1394Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.113345967G>ACA3051048ANK2c.4457G>A (p.Gly1486Asp)
c.4397G>A (p.Gly1466Asp)
c.998G>A (p.Gly333Asp)
n.2499G>A
n.1953G>A
n.1161G>A
n.5953G>A
n.3830G>A
n.1932G>A
n.3329G>A
n.2696G>A
n.2042G>A
n.2460G>A
c.4316G>A (p.Gly1439Asp)
c.4154G>A (p.Gly1385Asp)
c.1703G>A (p.Gly568Asp)
c.26G>A (p.Gly9Asp)
c.4130G>A (p.Gly1377Asp)
c.4217G>A (p.Gly1406Asp)
c.4352G>A (p.Gly1451Asp)
c.4253G>A (p.Gly1418Asp)
c.4190G>A (p.Gly1397Asp)
c.4055G>A (p.Gly1352Asp)
c.4133G>A (p.Gly1378Asp)
c.3932G>A (p.Gly1311Asp)
c.4031G>A (p.Gly1344Asp)
c.4361G>A (p.Gly1454Asp)
c.4166G>A (p.Gly1389Asp)
c.4151G>A (p.Gly1384Asp)
c.4139G>A (p.Gly1380Asp)
c.4118G>A (p.Gly1373Asp)
c.4091G>A (p.Gly1364Asp)
c.4289G>A (p.Gly1430Asp)
c.1880G>A (p.Gly627Asp)
c.3734G>A (p.Gly1245Asp)
c.1865G>A (p.Gly622Asp)
c.1844G>A (p.Gly615Asp)
c.4262G>A (p.Gly1421Asp)
c.4115G>A (p.Gly1372Asp)
c.3824G>A (p.Gly1275Asp)
c.273G>A
c.272G>A (p.Gly91Asp)
c.1353G>A
c.4349G>A (p.Gly1450Asp)
c.4313G>A (p.Gly1438Asp)
c.4403G>A (p.Gly1468Asp)
c.4367G>A (p.Gly1456Asp)
c.4343G>A (p.Gly1448Asp)
c.4388G>A (p.Gly1463Asp)
c.4328G>A (p.Gly1443Asp)
c.4295G>A (p.Gly1432Asp)
c.4358G>A (p.Gly1453Asp)
c.4214G>A (p.Gly1405Asp)
c.4394G>A (p.Gly1465Asp)
c.4286G>A (p.Gly1429Asp)
c.4250G>A (p.Gly1417Asp)
c.4265G>A (p.Gly1422Asp)
c.4175G>A (p.Gly1392Asp)
c.4103G>A (p.Gly1368Asp)
c.4187G>A (p.Gly1396Asp)
c.4016G>A (p.Gly1339Asp)
c.4433G>A (p.Gly1478Asp)
c.4319G>A (p.Gly1440Asp)
c.4301G>A (p.Gly1434Asp)
c.4373G>A (p.Gly1458Asp)
c.3833G>A (p.Gly1278Asp)
c.4160G>A (p.Gly1387Asp)
c.716G>A (p.Gly239Asp)
c.4181G>A (p.Gly1394Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.113345967G>CCA357913289ANK2c.4457G>C (p.Gly1486Ala)
c.4397G>C (p.Gly1466Ala)
c.998G>C (p.Gly333Ala)
n.2499G>C
n.1953G>C
n.1161G>C
n.5953G>C
n.3830G>C
n.1932G>C
n.3329G>C
n.2696G>C
n.2042G>C
n.2460G>C
c.4316G>C (p.Gly1439Ala)
c.4154G>C (p.Gly1385Ala)
c.1703G>C (p.Gly568Ala)
c.26G>C (p.Gly9Ala)
c.4130G>C (p.Gly1377Ala)
c.4217G>C (p.Gly1406Ala)
c.4352G>C (p.Gly1451Ala)
c.4253G>C (p.Gly1418Ala)
c.4190G>C (p.Gly1397Ala)
c.4055G>C (p.Gly1352Ala)
c.4133G>C (p.Gly1378Ala)
c.3932G>C (p.Gly1311Ala)
c.4031G>C (p.Gly1344Ala)
c.4361G>C (p.Gly1454Ala)
c.4166G>C (p.Gly1389Ala)
c.4151G>C (p.Gly1384Ala)
c.4139G>C (p.Gly1380Ala)
c.4118G>C (p.Gly1373Ala)
c.4091G>C (p.Gly1364Ala)
c.4289G>C (p.Gly1430Ala)
c.1880G>C (p.Gly627Ala)
c.3734G>C (p.Gly1245Ala)
c.1865G>C (p.Gly622Ala)
c.1844G>C (p.Gly615Ala)
c.4262G>C (p.Gly1421Ala)
c.4115G>C (p.Gly1372Ala)
c.3824G>C (p.Gly1275Ala)
c.273G>C
c.272G>C (p.Gly91Ala)
c.1353G>C
c.4349G>C (p.Gly1450Ala)
c.4313G>C (p.Gly1438Ala)
c.4403G>C (p.Gly1468Ala)
c.4367G>C (p.Gly1456Ala)
c.4343G>C (p.Gly1448Ala)
c.4388G>C (p.Gly1463Ala)
c.4328G>C (p.Gly1443Ala)
c.4295G>C (p.Gly1432Ala)
c.4358G>C (p.Gly1453Ala)
c.4214G>C (p.Gly1405Ala)
c.4394G>C (p.Gly1465Ala)
c.4286G>C (p.Gly1429Ala)
c.4250G>C (p.Gly1417Ala)
c.4265G>C (p.Gly1422Ala)
c.4175G>C (p.Gly1392Ala)
c.4103G>C (p.Gly1368Ala)
c.4187G>C (p.Gly1396Ala)
c.4016G>C (p.Gly1339Ala)
c.4433G>C (p.Gly1478Ala)
c.4319G>C (p.Gly1440Ala)
c.4301G>C (p.Gly1434Ala)
c.4373G>C (p.Gly1458Ala)
c.3833G>C (p.Gly1278Ala)
c.4160G>C (p.Gly1387Ala)
c.716G>C (p.Gly239Ala)
c.4181G>C (p.Gly1394Ala)
4g.113345967G>TCA103806804ANK2c.4457G>T (p.Gly1486Val)
c.4397G>T (p.Gly1466Val)
c.998G>T (p.Gly333Val)
n.2499G>T
n.1953G>T
n.1161G>T
n.5953G>T
n.3830G>T
n.1932G>T
n.3329G>T
n.2696G>T
n.2042G>T
n.2460G>T
c.4316G>T (p.Gly1439Val)
c.4154G>T (p.Gly1385Val)
c.1703G>T (p.Gly568Val)
c.26G>T (p.Gly9Val)
c.4130G>T (p.Gly1377Val)
c.4217G>T (p.Gly1406Val)
c.4352G>T (p.Gly1451Val)
c.4253G>T (p.Gly1418Val)
c.4190G>T (p.Gly1397Val)
c.4055G>T (p.Gly1352Val)
c.4133G>T (p.Gly1378Val)
c.3932G>T (p.Gly1311Val)
c.4031G>T (p.Gly1344Val)
c.4361G>T (p.Gly1454Val)
c.4166G>T (p.Gly1389Val)
c.4151G>T (p.Gly1384Val)
c.4139G>T (p.Gly1380Val)
c.4118G>T (p.Gly1373Val)
c.4091G>T (p.Gly1364Val)
c.4289G>T (p.Gly1430Val)
c.1880G>T (p.Gly627Val)
c.3734G>T (p.Gly1245Val)
c.1865G>T (p.Gly622Val)
c.1844G>T (p.Gly615Val)
c.4262G>T (p.Gly1421Val)
c.4115G>T (p.Gly1372Val)
c.3824G>T (p.Gly1275Val)
c.273G>T
c.272G>T (p.Gly91Val)
c.1353G>T
c.4349G>T (p.Gly1450Val)
c.4313G>T (p.Gly1438Val)
c.4403G>T (p.Gly1468Val)
c.4367G>T (p.Gly1456Val)
c.4343G>T (p.Gly1448Val)
c.4388G>T (p.Gly1463Val)
c.4328G>T (p.Gly1443Val)
c.4295G>T (p.Gly1432Val)
c.4358G>T (p.Gly1453Val)
c.4214G>T (p.Gly1405Val)
c.4394G>T (p.Gly1465Val)
c.4286G>T (p.Gly1429Val)
c.4250G>T (p.Gly1417Val)
c.4265G>T (p.Gly1422Val)
c.4175G>T (p.Gly1392Val)
c.4103G>T (p.Gly1368Val)
c.4187G>T (p.Gly1396Val)
c.4016G>T (p.Gly1339Val)
c.4433G>T (p.Gly1478Val)
c.4319G>T (p.Gly1440Val)
c.4301G>T (p.Gly1434Val)
c.4373G>T (p.Gly1458Val)
c.3833G>T (p.Gly1278Val)
c.4160G>T (p.Gly1387Val)
c.716G>T (p.Gly239Val)
c.4181G>T (p.Gly1394Val)
ClinVar dbSNP gnomAD v4
4g.113345968C>ACA440825301ANK2c.4458C>A (p.Gly1486=)
c.4398C>A (p.Gly1466=)
c.999C>A (p.Gly333=)
n.2500C>A
n.1954C>A
n.1162C>A
n.5954C>A
n.3831C>A
n.1933C>A
n.3330C>A
n.2697C>A
n.2043C>A
n.2461C>A
c.4317C>A (p.Gly1439=)
c.4155C>A (p.Gly1385=)
c.1704C>A (p.Gly568=)
c.27C>A (p.Gly9=)
c.4131C>A (p.Gly1377=)
c.4218C>A (p.Gly1406=)
c.4353C>A (p.Gly1451=)
c.4254C>A (p.Gly1418=)
c.4191C>A (p.Gly1397=)
c.4056C>A (p.Gly1352=)
c.4134C>A (p.Gly1378=)
c.3933C>A (p.Gly1311=)
c.4032C>A (p.Gly1344=)
c.4362C>A (p.Gly1454=)
c.4167C>A (p.Gly1389=)
c.4152C>A (p.Gly1384=)
c.4140C>A (p.Gly1380=)
c.4119C>A (p.Gly1373=)
c.4092C>A (p.Gly1364=)
c.4290C>A (p.Gly1430=)
c.1881C>A (p.Gly627=)
c.3735C>A (p.Gly1245=)
c.1866C>A (p.Gly622=)
c.1845C>A (p.Gly615=)
c.4263C>A (p.Gly1421=)
c.4116C>A (p.Gly1372=)
c.3825C>A (p.Gly1275=)
c.274C>A
c.273C>A (p.Gly91=)
c.1354C>A
c.4350C>A (p.Gly1450=)
c.4314C>A (p.Gly1438=)
c.4404C>A (p.Gly1468=)
c.4368C>A (p.Gly1456=)
c.4344C>A (p.Gly1448=)
c.4389C>A (p.Gly1463=)
c.4329C>A (p.Gly1443=)
c.4296C>A (p.Gly1432=)
c.4359C>A (p.Gly1453=)
c.4215C>A (p.Gly1405=)
c.4395C>A (p.Gly1465=)
c.4287C>A (p.Gly1429=)
c.4251C>A (p.Gly1417=)
c.4266C>A (p.Gly1422=)
c.4176C>A (p.Gly1392=)
c.4104C>A (p.Gly1368=)
c.4188C>A (p.Gly1396=)
c.4017C>A (p.Gly1339=)
c.4434C>A (p.Gly1478=)
c.4320C>A (p.Gly1440=)
c.4302C>A (p.Gly1434=)
c.4374C>A (p.Gly1458=)
c.3834C>A (p.Gly1278=)
c.4161C>A (p.Gly1387=)
c.717C>A (p.Gly239=)
c.4182C>A (p.Gly1394=)
4g.113345968C>GCA440825299ANK2c.4458C>G (p.Gly1486=)
c.4398C>G (p.Gly1466=)
c.999C>G (p.Gly333=)
n.2500C>G
n.1954C>G
n.1162C>G
n.5954C>G
n.3831C>G
n.1933C>G
n.3330C>G
n.2697C>G
n.2043C>G
n.2461C>G
c.4317C>G (p.Gly1439=)
c.4155C>G (p.Gly1385=)
c.1704C>G (p.Gly568=)
c.27C>G (p.Gly9=)
c.4131C>G (p.Gly1377=)
c.4218C>G (p.Gly1406=)
c.4353C>G (p.Gly1451=)
c.4254C>G (p.Gly1418=)
c.4191C>G (p.Gly1397=)
c.4056C>G (p.Gly1352=)
c.4134C>G (p.Gly1378=)
c.3933C>G (p.Gly1311=)
c.4032C>G (p.Gly1344=)
c.4362C>G (p.Gly1454=)
c.4167C>G (p.Gly1389=)
c.4152C>G (p.Gly1384=)
c.4140C>G (p.Gly1380=)
c.4119C>G (p.Gly1373=)
c.4092C>G (p.Gly1364=)
c.4290C>G (p.Gly1430=)
c.1881C>G (p.Gly627=)
c.3735C>G (p.Gly1245=)
c.1866C>G (p.Gly622=)
c.1845C>G (p.Gly615=)
c.4263C>G (p.Gly1421=)
c.4116C>G (p.Gly1372=)
c.3825C>G (p.Gly1275=)
c.274C>G
c.273C>G (p.Gly91=)
c.1354C>G
c.4350C>G (p.Gly1450=)
c.4314C>G (p.Gly1438=)
c.4404C>G (p.Gly1468=)
c.4368C>G (p.Gly1456=)
c.4344C>G (p.Gly1448=)
c.4389C>G (p.Gly1463=)
c.4329C>G (p.Gly1443=)
c.4296C>G (p.Gly1432=)
c.4359C>G (p.Gly1453=)
c.4215C>G (p.Gly1405=)
c.4395C>G (p.Gly1465=)
c.4287C>G (p.Gly1429=)
c.4251C>G (p.Gly1417=)
c.4266C>G (p.Gly1422=)
c.4176C>G (p.Gly1392=)
c.4104C>G (p.Gly1368=)
c.4188C>G (p.Gly1396=)
c.4017C>G (p.Gly1339=)
c.4434C>G (p.Gly1478=)
c.4320C>G (p.Gly1440=)
c.4302C>G (p.Gly1434=)
c.4374C>G (p.Gly1458=)
c.3834C>G (p.Gly1278=)
c.4161C>G (p.Gly1387=)
c.717C>G (p.Gly239=)
c.4182C>G (p.Gly1394=)
4g.113345968C>TCA440825300ANK2c.4458C>T (p.Gly1486=)
c.4398C>T (p.Gly1466=)
c.999C>T (p.Gly333=)
n.2500C>T
n.1954C>T
n.1162C>T
n.5954C>T
n.3831C>T
n.1933C>T
n.3330C>T
n.2697C>T
n.2043C>T
n.2461C>T
c.4317C>T (p.Gly1439=)
c.4155C>T (p.Gly1385=)
c.1704C>T (p.Gly568=)
c.27C>T (p.Gly9=)
c.4131C>T (p.Gly1377=)
c.4218C>T (p.Gly1406=)
c.4353C>T (p.Gly1451=)
c.4254C>T (p.Gly1418=)
c.4191C>T (p.Gly1397=)
c.4056C>T (p.Gly1352=)
c.4134C>T (p.Gly1378=)
c.3933C>T (p.Gly1311=)
c.4032C>T (p.Gly1344=)
c.4362C>T (p.Gly1454=)
c.4167C>T (p.Gly1389=)
c.4152C>T (p.Gly1384=)
c.4140C>T (p.Gly1380=)
c.4119C>T (p.Gly1373=)
c.4092C>T (p.Gly1364=)
c.4290C>T (p.Gly1430=)
c.1881C>T (p.Gly627=)
c.3735C>T (p.Gly1245=)
c.1866C>T (p.Gly622=)
c.1845C>T (p.Gly615=)
c.4263C>T (p.Gly1421=)
c.4116C>T (p.Gly1372=)
c.3825C>T (p.Gly1275=)
c.274C>T
c.273C>T (p.Gly91=)
c.1354C>T
c.4350C>T (p.Gly1450=)
c.4314C>T (p.Gly1438=)
c.4404C>T (p.Gly1468=)
c.4368C>T (p.Gly1456=)
c.4344C>T (p.Gly1448=)
c.4389C>T (p.Gly1463=)
c.4329C>T (p.Gly1443=)
c.4296C>T (p.Gly1432=)
c.4359C>T (p.Gly1453=)
c.4215C>T (p.Gly1405=)
c.4395C>T (p.Gly1465=)
c.4287C>T (p.Gly1429=)
c.4251C>T (p.Gly1417=)
c.4266C>T (p.Gly1422=)
c.4176C>T (p.Gly1392=)
c.4104C>T (p.Gly1368=)
c.4188C>T (p.Gly1396=)
c.4017C>T (p.Gly1339=)
c.4434C>T (p.Gly1478=)
c.4320C>T (p.Gly1440=)
c.4302C>T (p.Gly1434=)
c.4374C>T (p.Gly1458=)
c.3834C>T (p.Gly1278=)
c.4161C>T (p.Gly1387=)
c.717C>T (p.Gly239=)
c.4182C>T (p.Gly1394=)
4g.113345969C>ACA357913292ANK2c.4459C>A (p.Leu1487Met)
c.4399C>A (p.Leu1467Met)
c.1000C>A (p.Leu334Met)
n.2501C>A
n.1955C>A
n.1163C>A
n.5955C>A
n.3832C>A
n.1934C>A
n.3331C>A
n.2698C>A
n.2044C>A
n.2462C>A
c.4318C>A (p.Leu1440Met)
c.4156C>A (p.Leu1386Met)
c.1705C>A (p.Leu569Met)
c.28C>A (p.Leu10Met)
c.4132C>A (p.Leu1378Met)
c.4219C>A (p.Leu1407Met)
c.4354C>A (p.Leu1452Met)
c.4255C>A (p.Leu1419Met)
c.4192C>A (p.Leu1398Met)
c.4057C>A (p.Leu1353Met)
c.4135C>A (p.Leu1379Met)
c.3934C>A (p.Leu1312Met)
c.4033C>A (p.Leu1345Met)
c.4363C>A (p.Leu1455Met)
c.4168C>A (p.Leu1390Met)
c.4153C>A (p.Leu1385Met)
c.4141C>A (p.Leu1381Met)
c.4120C>A (p.Leu1374Met)
c.4093C>A (p.Leu1365Met)
c.4291C>A (p.Leu1431Met)
c.1882C>A (p.Leu628Met)
c.3736C>A (p.Leu1246Met)
c.1867C>A (p.Leu623Met)
c.1846C>A (p.Leu616Met)
c.4264C>A (p.Leu1422Met)
c.4117C>A (p.Leu1373Met)
c.3826C>A (p.Leu1276Met)
c.275C>A
c.274C>A (p.Leu92Met)
c.1355C>A
c.4351C>A (p.Leu1451Met)
c.4315C>A (p.Leu1439Met)
c.4405C>A (p.Leu1469Met)
c.4369C>A (p.Leu1457Met)
c.4345C>A (p.Leu1449Met)
c.4390C>A (p.Leu1464Met)
c.4330C>A (p.Leu1444Met)
c.4297C>A (p.Leu1433Met)
c.4360C>A (p.Leu1454Met)
c.4216C>A (p.Leu1406Met)
c.4396C>A (p.Leu1466Met)
c.4288C>A (p.Leu1430Met)
c.4252C>A (p.Leu1418Met)
c.4267C>A (p.Leu1423Met)
c.4177C>A (p.Leu1393Met)
c.4105C>A (p.Leu1369Met)
c.4189C>A (p.Leu1397Met)
c.4018C>A (p.Leu1340Met)
c.4435C>A (p.Leu1479Met)
c.4321C>A (p.Leu1441Met)
c.4303C>A (p.Leu1435Met)
c.4375C>A (p.Leu1459Met)
c.3835C>A (p.Leu1279Met)
c.4162C>A (p.Leu1388Met)
c.718C>A (p.Leu240Met)
c.4183C>A (p.Leu1395Met)
gnomAD v4
4g.113345969C>GCA357913293ANK2c.4459C>G (p.Leu1487Val)
c.4399C>G (p.Leu1467Val)
c.1000C>G (p.Leu334Val)
n.2501C>G
n.1955C>G
n.1163C>G
n.5955C>G
n.3832C>G
n.1934C>G
n.3331C>G
n.2698C>G
n.2044C>G
n.2462C>G
c.4318C>G (p.Leu1440Val)
c.4156C>G (p.Leu1386Val)
c.1705C>G (p.Leu569Val)
c.28C>G (p.Leu10Val)
c.4132C>G (p.Leu1378Val)
c.4219C>G (p.Leu1407Val)
c.4354C>G (p.Leu1452Val)
c.4255C>G (p.Leu1419Val)
c.4192C>G (p.Leu1398Val)
c.4057C>G (p.Leu1353Val)
c.4135C>G (p.Leu1379Val)
c.3934C>G (p.Leu1312Val)
c.4033C>G (p.Leu1345Val)
c.4363C>G (p.Leu1455Val)
c.4168C>G (p.Leu1390Val)
c.4153C>G (p.Leu1385Val)
c.4141C>G (p.Leu1381Val)
c.4120C>G (p.Leu1374Val)
c.4093C>G (p.Leu1365Val)
c.4291C>G (p.Leu1431Val)
c.1882C>G (p.Leu628Val)
c.3736C>G (p.Leu1246Val)
c.1867C>G (p.Leu623Val)
c.1846C>G (p.Leu616Val)
c.4264C>G (p.Leu1422Val)
c.4117C>G (p.Leu1373Val)
c.3826C>G (p.Leu1276Val)
c.275C>G
c.274C>G (p.Leu92Val)
c.1355C>G
c.4351C>G (p.Leu1451Val)
c.4315C>G (p.Leu1439Val)
c.4405C>G (p.Leu1469Val)
c.4369C>G (p.Leu1457Val)
c.4345C>G (p.Leu1449Val)
c.4390C>G (p.Leu1464Val)
c.4330C>G (p.Leu1444Val)
c.4297C>G (p.Leu1433Val)
c.4360C>G (p.Leu1454Val)
c.4216C>G (p.Leu1406Val)
c.4396C>G (p.Leu1466Val)
c.4288C>G (p.Leu1430Val)
c.4252C>G (p.Leu1418Val)
c.4267C>G (p.Leu1423Val)
c.4177C>G (p.Leu1393Val)
c.4105C>G (p.Leu1369Val)
c.4189C>G (p.Leu1397Val)
c.4018C>G (p.Leu1340Val)
c.4435C>G (p.Leu1479Val)
c.4321C>G (p.Leu1441Val)
c.4303C>G (p.Leu1435Val)
c.4375C>G (p.Leu1459Val)
c.3835C>G (p.Leu1279Val)
c.4162C>G (p.Leu1388Val)
c.718C>G (p.Leu240Val)
c.4183C>G (p.Leu1395Val)
4g.113345969C>TCA440825303ANK2c.4459C>T (p.Leu1487=)
c.4399C>T (p.Leu1467=)
c.1000C>T (p.Leu334=)
n.2501C>T
n.1955C>T
n.1163C>T
n.5955C>T
n.3832C>T
n.1934C>T
n.3331C>T
n.2698C>T
n.2044C>T
n.2462C>T
c.4318C>T (p.Leu1440=)
c.4156C>T (p.Leu1386=)
c.1705C>T (p.Leu569=)
c.28C>T (p.Leu10=)
c.4132C>T (p.Leu1378=)
c.4219C>T (p.Leu1407=)
c.4354C>T (p.Leu1452=)
c.4255C>T (p.Leu1419=)
c.4192C>T (p.Leu1398=)
c.4057C>T (p.Leu1353=)
c.4135C>T (p.Leu1379=)
c.3934C>T (p.Leu1312=)
c.4033C>T (p.Leu1345=)
c.4363C>T (p.Leu1455=)
c.4168C>T (p.Leu1390=)
c.4153C>T (p.Leu1385=)
c.4141C>T (p.Leu1381=)
c.4120C>T (p.Leu1374=)
c.4093C>T (p.Leu1365=)
c.4291C>T (p.Leu1431=)
c.1882C>T (p.Leu628=)
c.3736C>T (p.Leu1246=)
c.1867C>T (p.Leu623=)
c.1846C>T (p.Leu616=)
c.4264C>T (p.Leu1422=)
c.4117C>T (p.Leu1373=)
c.3826C>T (p.Leu1276=)
c.275C>T
c.274C>T (p.Leu92=)
c.1355C>T
c.4351C>T (p.Leu1451=)
c.4315C>T (p.Leu1439=)
c.4405C>T (p.Leu1469=)
c.4369C>T (p.Leu1457=)
c.4345C>T (p.Leu1449=)
c.4390C>T (p.Leu1464=)
c.4330C>T (p.Leu1444=)
c.4297C>T (p.Leu1433=)
c.4360C>T (p.Leu1454=)
c.4216C>T (p.Leu1406=)
c.4396C>T (p.Leu1466=)
c.4288C>T (p.Leu1430=)
c.4252C>T (p.Leu1418=)
c.4267C>T (p.Leu1423=)
c.4177C>T (p.Leu1393=)
c.4105C>T (p.Leu1369=)
c.4189C>T (p.Leu1397=)
c.4018C>T (p.Leu1340=)
c.4435C>T (p.Leu1479=)
c.4321C>T (p.Leu1441=)
c.4303C>T (p.Leu1435=)
c.4375C>T (p.Leu1459=)
c.3835C>T (p.Leu1279=)
c.4162C>T (p.Leu1388=)
c.718C>T (p.Leu240=)
c.4183C>T (p.Leu1395=)
4g.113345970T>ACA357913296ANK2c.4460T>A (p.Leu1487Gln)
c.4400T>A (p.Leu1467Gln)
c.1001T>A (p.Leu334Gln)
n.2502T>A
n.1956T>A
n.1164T>A
n.5956T>A
n.3833T>A
n.1935T>A
n.3332T>A
n.2699T>A
n.2045T>A
n.2463T>A
c.4319T>A (p.Leu1440Gln)
c.4157T>A (p.Leu1386Gln)
c.1706T>A (p.Leu569Gln)
c.29T>A (p.Leu10Gln)
c.4133T>A (p.Leu1378Gln)
c.4220T>A (p.Leu1407Gln)
c.4355T>A (p.Leu1452Gln)
c.4256T>A (p.Leu1419Gln)
c.4193T>A (p.Leu1398Gln)
c.4058T>A (p.Leu1353Gln)
c.4136T>A (p.Leu1379Gln)
c.3935T>A (p.Leu1312Gln)
c.4034T>A (p.Leu1345Gln)
c.4364T>A (p.Leu1455Gln)
c.4169T>A (p.Leu1390Gln)
c.4154T>A (p.Leu1385Gln)
c.4142T>A (p.Leu1381Gln)
c.4121T>A (p.Leu1374Gln)
c.4094T>A (p.Leu1365Gln)
c.4292T>A (p.Leu1431Gln)
c.1883T>A (p.Leu628Gln)
c.3737T>A (p.Leu1246Gln)
c.1868T>A (p.Leu623Gln)
c.1847T>A (p.Leu616Gln)
c.4265T>A (p.Leu1422Gln)
c.4118T>A (p.Leu1373Gln)
c.3827T>A (p.Leu1276Gln)
c.276T>A
c.275T>A (p.Leu92Gln)
c.1356T>A
c.4352T>A (p.Leu1451Gln)
c.4316T>A (p.Leu1439Gln)
c.4406T>A (p.Leu1469Gln)
c.4370T>A (p.Leu1457Gln)
c.4346T>A (p.Leu1449Gln)
c.4391T>A (p.Leu1464Gln)
c.4331T>A (p.Leu1444Gln)
c.4298T>A (p.Leu1433Gln)
c.4361T>A (p.Leu1454Gln)
c.4217T>A (p.Leu1406Gln)
c.4397T>A (p.Leu1466Gln)
c.4289T>A (p.Leu1430Gln)
c.4253T>A (p.Leu1418Gln)
c.4268T>A (p.Leu1423Gln)
c.4178T>A (p.Leu1393Gln)
c.4106T>A (p.Leu1369Gln)
c.4190T>A (p.Leu1397Gln)
c.4019T>A (p.Leu1340Gln)
c.4436T>A (p.Leu1479Gln)
c.4322T>A (p.Leu1441Gln)
c.4304T>A (p.Leu1435Gln)
c.4376T>A (p.Leu1459Gln)
c.3836T>A (p.Leu1279Gln)
c.4163T>A (p.Leu1388Gln)
c.719T>A (p.Leu240Gln)
c.4184T>A (p.Leu1395Gln)
4g.113345970T>CCA357913298ANK2c.4460T>C (p.Leu1487Pro)
c.4400T>C (p.Leu1467Pro)
c.1001T>C (p.Leu334Pro)
n.2502T>C
n.1956T>C
n.1164T>C
n.5956T>C
n.3833T>C
n.1935T>C
n.3332T>C
n.2699T>C
n.2045T>C
n.2463T>C
c.4319T>C (p.Leu1440Pro)
c.4157T>C (p.Leu1386Pro)
c.1706T>C (p.Leu569Pro)
c.29T>C (p.Leu10Pro)
c.4133T>C (p.Leu1378Pro)
c.4220T>C (p.Leu1407Pro)
c.4355T>C (p.Leu1452Pro)
c.4256T>C (p.Leu1419Pro)
c.4193T>C (p.Leu1398Pro)
c.4058T>C (p.Leu1353Pro)
c.4136T>C (p.Leu1379Pro)
c.3935T>C (p.Leu1312Pro)
c.4034T>C (p.Leu1345Pro)
c.4364T>C (p.Leu1455Pro)
c.4169T>C (p.Leu1390Pro)
c.4154T>C (p.Leu1385Pro)
c.4142T>C (p.Leu1381Pro)
c.4121T>C (p.Leu1374Pro)
c.4094T>C (p.Leu1365Pro)
c.4292T>C (p.Leu1431Pro)
c.1883T>C (p.Leu628Pro)
c.3737T>C (p.Leu1246Pro)
c.1868T>C (p.Leu623Pro)
c.1847T>C (p.Leu616Pro)
c.4265T>C (p.Leu1422Pro)
c.4118T>C (p.Leu1373Pro)
c.3827T>C (p.Leu1276Pro)
c.276T>C
c.275T>C (p.Leu92Pro)
c.1356T>C
c.4352T>C (p.Leu1451Pro)
c.4316T>C (p.Leu1439Pro)
c.4406T>C (p.Leu1469Pro)
c.4370T>C (p.Leu1457Pro)
c.4346T>C (p.Leu1449Pro)
c.4391T>C (p.Leu1464Pro)
c.4331T>C (p.Leu1444Pro)
c.4298T>C (p.Leu1433Pro)
c.4361T>C (p.Leu1454Pro)
c.4217T>C (p.Leu1406Pro)
c.4397T>C (p.Leu1466Pro)
c.4289T>C (p.Leu1430Pro)
c.4253T>C (p.Leu1418Pro)
c.4268T>C (p.Leu1423Pro)
c.4178T>C (p.Leu1393Pro)
c.4106T>C (p.Leu1369Pro)
c.4190T>C (p.Leu1397Pro)
c.4019T>C (p.Leu1340Pro)
c.4436T>C (p.Leu1479Pro)
c.4322T>C (p.Leu1441Pro)
c.4304T>C (p.Leu1435Pro)
c.4376T>C (p.Leu1459Pro)
c.3836T>C (p.Leu1279Pro)
c.4163T>C (p.Leu1388Pro)
c.719T>C (p.Leu240Pro)
c.4184T>C (p.Leu1395Pro)
gnomAD v4
4g.113345970T>GCA357913299ANK2c.4460T>G (p.Leu1487Arg)
c.4400T>G (p.Leu1467Arg)
c.1001T>G (p.Leu334Arg)
n.2502T>G
n.1956T>G
n.1164T>G
n.5956T>G
n.3833T>G
n.1935T>G
n.3332T>G
n.2699T>G
n.2045T>G
n.2463T>G
c.4319T>G (p.Leu1440Arg)
c.4157T>G (p.Leu1386Arg)
c.1706T>G (p.Leu569Arg)
c.29T>G (p.Leu10Arg)
c.4133T>G (p.Leu1378Arg)
c.4220T>G (p.Leu1407Arg)
c.4355T>G (p.Leu1452Arg)
c.4256T>G (p.Leu1419Arg)
c.4193T>G (p.Leu1398Arg)
c.4058T>G (p.Leu1353Arg)
c.4136T>G (p.Leu1379Arg)
c.3935T>G (p.Leu1312Arg)
c.4034T>G (p.Leu1345Arg)
c.4364T>G (p.Leu1455Arg)
c.4169T>G (p.Leu1390Arg)
c.4154T>G (p.Leu1385Arg)
c.4142T>G (p.Leu1381Arg)
c.4121T>G (p.Leu1374Arg)
c.4094T>G (p.Leu1365Arg)
c.4292T>G (p.Leu1431Arg)
c.1883T>G (p.Leu628Arg)
c.3737T>G (p.Leu1246Arg)
c.1868T>G (p.Leu623Arg)
c.1847T>G (p.Leu616Arg)
c.4265T>G (p.Leu1422Arg)
c.4118T>G (p.Leu1373Arg)
c.3827T>G (p.Leu1276Arg)
c.276T>G
c.275T>G (p.Leu92Arg)
c.1356T>G
c.4352T>G (p.Leu1451Arg)
c.4316T>G (p.Leu1439Arg)
c.4406T>G (p.Leu1469Arg)
c.4370T>G (p.Leu1457Arg)
c.4346T>G (p.Leu1449Arg)
c.4391T>G (p.Leu1464Arg)
c.4331T>G (p.Leu1444Arg)
c.4298T>G (p.Leu1433Arg)
c.4361T>G (p.Leu1454Arg)
c.4217T>G (p.Leu1406Arg)
c.4397T>G (p.Leu1466Arg)
c.4289T>G (p.Leu1430Arg)
c.4253T>G (p.Leu1418Arg)
c.4268T>G (p.Leu1423Arg)
c.4178T>G (p.Leu1393Arg)
c.4106T>G (p.Leu1369Arg)
c.4190T>G (p.Leu1397Arg)
c.4019T>G (p.Leu1340Arg)
c.4436T>G (p.Leu1479Arg)
c.4322T>G (p.Leu1441Arg)
c.4304T>G (p.Leu1435Arg)
c.4376T>G (p.Leu1459Arg)
c.3836T>G (p.Leu1279Arg)
c.4163T>G (p.Leu1388Arg)
c.719T>G (p.Leu240Arg)
c.4184T>G (p.Leu1395Arg)
ClinVar dbSNP
4g.113345971G>ACA16604665ANK2c.4461G>A (p.Leu1487=)
c.4401G>A (p.Leu1467=)
c.1002G>A (p.Leu334=)
n.2503G>A
n.1957G>A
n.1165G>A
n.5957G>A
n.3834G>A
n.1936G>A
n.3333G>A
n.2700G>A
n.2046G>A
n.2464G>A
c.4320G>A (p.Leu1440=)
c.4158G>A (p.Leu1386=)
c.1707G>A (p.Leu569=)
c.30G>A (p.Leu10=)
c.4134G>A (p.Leu1378=)
c.4221G>A (p.Leu1407=)
c.4356G>A (p.Leu1452=)
c.4257G>A (p.Leu1419=)
c.4194G>A (p.Leu1398=)
c.4059G>A (p.Leu1353=)
c.4137G>A (p.Leu1379=)
c.3936G>A (p.Leu1312=)
c.4035G>A (p.Leu1345=)
c.4365G>A (p.Leu1455=)
c.4170G>A (p.Leu1390=)
c.4155G>A (p.Leu1385=)
c.4143G>A (p.Leu1381=)
c.4122G>A (p.Leu1374=)
c.4095G>A (p.Leu1365=)
c.4293G>A (p.Leu1431=)
c.1884G>A (p.Leu628=)
c.3738G>A (p.Leu1246=)
c.1869G>A (p.Leu623=)
c.1848G>A (p.Leu616=)
c.4266G>A (p.Leu1422=)
c.4119G>A (p.Leu1373=)
c.3828G>A (p.Leu1276=)
c.277G>A
c.276G>A (p.Leu92=)
c.1357G>A
c.4353G>A (p.Leu1451=)
c.4317G>A (p.Leu1439=)
c.4407G>A (p.Leu1469=)
c.4371G>A (p.Leu1457=)
c.4347G>A (p.Leu1449=)
c.4392G>A (p.Leu1464=)
c.4332G>A (p.Leu1444=)
c.4299G>A (p.Leu1433=)
c.4362G>A (p.Leu1454=)
c.4218G>A (p.Leu1406=)
c.4398G>A (p.Leu1466=)
c.4290G>A (p.Leu1430=)
c.4254G>A (p.Leu1418=)
c.4269G>A (p.Leu1423=)
c.4179G>A (p.Leu1393=)
c.4107G>A (p.Leu1369=)
c.4191G>A (p.Leu1397=)
c.4020G>A (p.Leu1340=)
c.4437G>A (p.Leu1479=)
c.4323G>A (p.Leu1441=)
c.4305G>A (p.Leu1435=)
c.4377G>A (p.Leu1459=)
c.3837G>A (p.Leu1279=)
c.4164G>A (p.Leu1388=)
c.720G>A (p.Leu240=)
c.4185G>A (p.Leu1395=)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.113345971G>CCA440825307ANK2c.4461G>C (p.Leu1487=)
c.4401G>C (p.Leu1467=)
c.1002G>C (p.Leu334=)
n.2503G>C
n.1957G>C
n.1165G>C
n.5957G>C
n.3834G>C
n.1936G>C
n.3333G>C
n.2700G>C
n.2046G>C
n.2464G>C
c.4320G>C (p.Leu1440=)
c.4158G>C (p.Leu1386=)
c.1707G>C (p.Leu569=)
c.30G>C (p.Leu10=)
c.4134G>C (p.Leu1378=)
c.4221G>C (p.Leu1407=)
c.4356G>C (p.Leu1452=)
c.4257G>C (p.Leu1419=)
c.4194G>C (p.Leu1398=)
c.4059G>C (p.Leu1353=)
c.4137G>C (p.Leu1379=)
c.3936G>C (p.Leu1312=)
c.4035G>C (p.Leu1345=)
c.4365G>C (p.Leu1455=)
c.4170G>C (p.Leu1390=)
c.4155G>C (p.Leu1385=)
c.4143G>C (p.Leu1381=)
c.4122G>C (p.Leu1374=)
c.4095G>C (p.Leu1365=)
c.4293G>C (p.Leu1431=)
c.1884G>C (p.Leu628=)
c.3738G>C (p.Leu1246=)
c.1869G>C (p.Leu623=)
c.1848G>C (p.Leu616=)
c.4266G>C (p.Leu1422=)
c.4119G>C (p.Leu1373=)
c.3828G>C (p.Leu1276=)
c.277G>C
c.276G>C (p.Leu92=)
c.1357G>C
c.4353G>C (p.Leu1451=)
c.4317G>C (p.Leu1439=)
c.4407G>C (p.Leu1469=)
c.4371G>C (p.Leu1457=)
c.4347G>C (p.Leu1449=)
c.4392G>C (p.Leu1464=)
c.4332G>C (p.Leu1444=)
c.4299G>C (p.Leu1433=)
c.4362G>C (p.Leu1454=)
c.4218G>C (p.Leu1406=)
c.4398G>C (p.Leu1466=)
c.4290G>C (p.Leu1430=)
c.4254G>C (p.Leu1418=)
c.4269G>C (p.Leu1423=)
c.4179G>C (p.Leu1393=)
c.4107G>C (p.Leu1369=)
c.4191G>C (p.Leu1397=)
c.4020G>C (p.Leu1340=)
c.4437G>C (p.Leu1479=)
c.4323G>C (p.Leu1441=)
c.4305G>C (p.Leu1435=)
c.4377G>C (p.Leu1459=)
c.3837G>C (p.Leu1279=)
c.4164G>C (p.Leu1388=)
c.720G>C (p.Leu240=)
c.4185G>C (p.Leu1395=)
4g.113345971G>TCA440825306ANK2c.4461G>T (p.Leu1487=)
c.4401G>T (p.Leu1467=)
c.1002G>T (p.Leu334=)
n.2503G>T
n.1957G>T
n.1165G>T
n.5957G>T
n.3834G>T
n.1936G>T
n.3333G>T
n.2700G>T
n.2046G>T
n.2464G>T
c.4320G>T (p.Leu1440=)
c.4158G>T (p.Leu1386=)
c.1707G>T (p.Leu569=)
c.30G>T (p.Leu10=)
c.4134G>T (p.Leu1378=)
c.4221G>T (p.Leu1407=)
c.4356G>T (p.Leu1452=)
c.4257G>T (p.Leu1419=)
c.4194G>T (p.Leu1398=)
c.4059G>T (p.Leu1353=)
c.4137G>T (p.Leu1379=)
c.3936G>T (p.Leu1312=)
c.4035G>T (p.Leu1345=)
c.4365G>T (p.Leu1455=)
c.4170G>T (p.Leu1390=)
c.4155G>T (p.Leu1385=)
c.4143G>T (p.Leu1381=)
c.4122G>T (p.Leu1374=)
c.4095G>T (p.Leu1365=)
c.4293G>T (p.Leu1431=)
c.1884G>T (p.Leu628=)
c.3738G>T (p.Leu1246=)
c.1869G>T (p.Leu623=)
c.1848G>T (p.Leu616=)
c.4266G>T (p.Leu1422=)
c.4119G>T (p.Leu1373=)
c.3828G>T (p.Leu1276=)
c.277G>T
c.276G>T (p.Leu92=)
c.1357G>T
c.4353G>T (p.Leu1451=)
c.4317G>T (p.Leu1439=)
c.4407G>T (p.Leu1469=)
c.4371G>T (p.Leu1457=)
c.4347G>T (p.Leu1449=)
c.4392G>T (p.Leu1464=)
c.4332G>T (p.Leu1444=)
c.4299G>T (p.Leu1433=)
c.4362G>T (p.Leu1454=)
c.4218G>T (p.Leu1406=)
c.4398G>T (p.Leu1466=)
c.4290G>T (p.Leu1430=)
c.4254G>T (p.Leu1418=)
c.4269G>T (p.Leu1423=)
c.4179G>T (p.Leu1393=)
c.4107G>T (p.Leu1369=)
c.4191G>T (p.Leu1397=)
c.4020G>T (p.Leu1340=)
c.4437G>T (p.Leu1479=)
c.4323G>T (p.Leu1441=)
c.4305G>T (p.Leu1435=)
c.4377G>T (p.Leu1459=)
c.3837G>T (p.Leu1279=)
c.4164G>T (p.Leu1388=)
c.720G>T (p.Leu240=)
c.4185G>T (p.Leu1395=)
4g.113345972G>ACA357913302ANK2c.4462G>A (p.Val1488Met)
c.4402G>A (p.Val1468Met)
c.1003G>A (p.Val335Met)
n.2504G>A
n.1958G>A
n.1166G>A
n.5958G>A
n.3835G>A
n.1937G>A
n.3334G>A
n.2701G>A
n.2047G>A
n.2465G>A
c.4321G>A (p.Val1441Met)
c.4159G>A (p.Val1387Met)
c.1708G>A (p.Val570Met)
c.31G>A (p.Val11Met)
c.4135G>A (p.Val1379Met)
c.4222G>A (p.Val1408Met)
c.4357G>A (p.Val1453Met)
c.4258G>A (p.Val1420Met)
c.4195G>A (p.Val1399Met)
c.4060G>A (p.Val1354Met)
c.4138G>A (p.Val1380Met)
c.3937G>A (p.Val1313Met)
c.4036G>A (p.Val1346Met)
c.4366G>A (p.Val1456Met)
c.4171G>A (p.Val1391Met)
c.4156G>A (p.Val1386Met)
c.4144G>A (p.Val1382Met)
c.4123G>A (p.Val1375Met)
c.4096G>A (p.Val1366Met)
c.4294G>A (p.Val1432Met)
c.1885G>A (p.Val629Met)
c.3739G>A (p.Val1247Met)
c.1870G>A (p.Val624Met)
c.1849G>A (p.Val617Met)
c.4267G>A (p.Val1423Met)
c.4120G>A (p.Val1374Met)
c.3829G>A (p.Val1277Met)
c.278G>A
c.277G>A (p.Val93Met)
c.1358G>A
c.4354G>A (p.Val1452Met)
c.4318G>A (p.Val1440Met)
c.4408G>A (p.Val1470Met)
c.4372G>A (p.Val1458Met)
c.4348G>A (p.Val1450Met)
c.4393G>A (p.Val1465Met)
c.4333G>A (p.Val1445Met)
c.4300G>A (p.Val1434Met)
c.4363G>A (p.Val1455Met)
c.4219G>A (p.Val1407Met)
c.4399G>A (p.Val1467Met)
c.4291G>A (p.Val1431Met)
c.4255G>A (p.Val1419Met)
c.4270G>A (p.Val1424Met)
c.4180G>A (p.Val1394Met)
c.4108G>A (p.Val1370Met)
c.4192G>A (p.Val1398Met)
c.4021G>A (p.Val1341Met)
c.4438G>A (p.Val1480Met)
c.4324G>A (p.Val1442Met)
c.4306G>A (p.Val1436Met)
c.4378G>A (p.Val1460Met)
c.3838G>A (p.Val1280Met)
c.4165G>A (p.Val1389Met)
c.721G>A (p.Val241Met)
c.4186G>A (p.Val1396Met)
4g.113345972G>CCA357913304ANK2c.4462G>C (p.Val1488Leu)
c.4402G>C (p.Val1468Leu)
c.1003G>C (p.Val335Leu)
n.2504G>C
n.1958G>C
n.1166G>C
n.5958G>C
n.3835G>C
n.1937G>C
n.3334G>C
n.2701G>C
n.2047G>C
n.2465G>C
c.4321G>C (p.Val1441Leu)
c.4159G>C (p.Val1387Leu)
c.1708G>C (p.Val570Leu)
c.31G>C (p.Val11Leu)
c.4135G>C (p.Val1379Leu)
c.4222G>C (p.Val1408Leu)
c.4357G>C (p.Val1453Leu)
c.4258G>C (p.Val1420Leu)
c.4195G>C (p.Val1399Leu)
c.4060G>C (p.Val1354Leu)
c.4138G>C (p.Val1380Leu)
c.3937G>C (p.Val1313Leu)
c.4036G>C (p.Val1346Leu)
c.4366G>C (p.Val1456Leu)
c.4171G>C (p.Val1391Leu)
c.4156G>C (p.Val1386Leu)
c.4144G>C (p.Val1382Leu)
c.4123G>C (p.Val1375Leu)
c.4096G>C (p.Val1366Leu)
c.4294G>C (p.Val1432Leu)
c.1885G>C (p.Val629Leu)
c.3739G>C (p.Val1247Leu)
c.1870G>C (p.Val624Leu)
c.1849G>C (p.Val617Leu)
c.4267G>C (p.Val1423Leu)
c.4120G>C (p.Val1374Leu)
c.3829G>C (p.Val1277Leu)
c.278G>C
c.277G>C (p.Val93Leu)
c.1358G>C
c.4354G>C (p.Val1452Leu)
c.4318G>C (p.Val1440Leu)
c.4408G>C (p.Val1470Leu)
c.4372G>C (p.Val1458Leu)
c.4348G>C (p.Val1450Leu)
c.4393G>C (p.Val1465Leu)
c.4333G>C (p.Val1445Leu)
c.4300G>C (p.Val1434Leu)
c.4363G>C (p.Val1455Leu)
c.4219G>C (p.Val1407Leu)
c.4399G>C (p.Val1467Leu)
c.4291G>C (p.Val1431Leu)
c.4255G>C (p.Val1419Leu)
c.4270G>C (p.Val1424Leu)
c.4180G>C (p.Val1394Leu)
c.4108G>C (p.Val1370Leu)
c.4192G>C (p.Val1398Leu)
c.4021G>C (p.Val1341Leu)
c.4438G>C (p.Val1480Leu)
c.4324G>C (p.Val1442Leu)
c.4306G>C (p.Val1436Leu)
c.4378G>C (p.Val1460Leu)
c.3838G>C (p.Val1280Leu)
c.4165G>C (p.Val1389Leu)
c.721G>C (p.Val241Leu)
c.4186G>C (p.Val1396Leu)
4g.113345972G>TCA357913305ANK2c.4462G>T (p.Val1488Leu)
c.4402G>T (p.Val1468Leu)
c.1003G>T (p.Val335Leu)
n.2504G>T
n.1958G>T
n.1166G>T
n.5958G>T
n.3835G>T
n.1937G>T
n.3334G>T
n.2701G>T
n.2047G>T
n.2465G>T
c.4321G>T (p.Val1441Leu)
c.4159G>T (p.Val1387Leu)
c.1708G>T (p.Val570Leu)
c.31G>T (p.Val11Leu)
c.4135G>T (p.Val1379Leu)
c.4222G>T (p.Val1408Leu)
c.4357G>T (p.Val1453Leu)
c.4258G>T (p.Val1420Leu)
c.4195G>T (p.Val1399Leu)
c.4060G>T (p.Val1354Leu)
c.4138G>T (p.Val1380Leu)
c.3937G>T (p.Val1313Leu)
c.4036G>T (p.Val1346Leu)
c.4366G>T (p.Val1456Leu)
c.4171G>T (p.Val1391Leu)
c.4156G>T (p.Val1386Leu)
c.4144G>T (p.Val1382Leu)
c.4123G>T (p.Val1375Leu)
c.4096G>T (p.Val1366Leu)
c.4294G>T (p.Val1432Leu)
c.1885G>T (p.Val629Leu)
c.3739G>T (p.Val1247Leu)
c.1870G>T (p.Val624Leu)
c.1849G>T (p.Val617Leu)
c.4267G>T (p.Val1423Leu)
c.4120G>T (p.Val1374Leu)
c.3829G>T (p.Val1277Leu)
c.278G>T
c.277G>T (p.Val93Leu)
c.1358G>T
c.4354G>T (p.Val1452Leu)
c.4318G>T (p.Val1440Leu)
c.4408G>T (p.Val1470Leu)
c.4372G>T (p.Val1458Leu)
c.4348G>T (p.Val1450Leu)
c.4393G>T (p.Val1465Leu)
c.4333G>T (p.Val1445Leu)
c.4300G>T (p.Val1434Leu)
c.4363G>T (p.Val1455Leu)
c.4219G>T (p.Val1407Leu)
c.4399G>T (p.Val1467Leu)
c.4291G>T (p.Val1431Leu)
c.4255G>T (p.Val1419Leu)
c.4270G>T (p.Val1424Leu)
c.4180G>T (p.Val1394Leu)
c.4108G>T (p.Val1370Leu)
c.4192G>T (p.Val1398Leu)
c.4021G>T (p.Val1341Leu)
c.4438G>T (p.Val1480Leu)
c.4324G>T (p.Val1442Leu)
c.4306G>T (p.Val1436Leu)
c.4378G>T (p.Val1460Leu)
c.3838G>T (p.Val1280Leu)
c.4165G>T (p.Val1389Leu)
c.721G>T (p.Val241Leu)
c.4186G>T (p.Val1396Leu)
4g.113345973T>ACA357913306ANK2c.4463T>A (p.Val1488Glu)
c.4403T>A (p.Val1468Glu)
c.1004T>A (p.Val335Glu)
n.2505T>A
n.1959T>A
n.1167T>A
n.5959T>A
n.3836T>A
n.1938T>A
n.3335T>A
n.2702T>A
n.2048T>A
n.2466T>A
c.4322T>A (p.Val1441Glu)
c.4160T>A (p.Val1387Glu)
c.1709T>A (p.Val570Glu)
c.32T>A (p.Val11Glu)
c.4136T>A (p.Val1379Glu)
c.4223T>A (p.Val1408Glu)
c.4358T>A (p.Val1453Glu)
c.4259T>A (p.Val1420Glu)
c.4196T>A (p.Val1399Glu)
c.4061T>A (p.Val1354Glu)
c.4139T>A (p.Val1380Glu)
c.3938T>A (p.Val1313Glu)
c.4037T>A (p.Val1346Glu)
c.4367T>A (p.Val1456Glu)
c.4172T>A (p.Val1391Glu)
c.4157T>A (p.Val1386Glu)
c.4145T>A (p.Val1382Glu)
c.4124T>A (p.Val1375Glu)
c.4097T>A (p.Val1366Glu)
c.4295T>A (p.Val1432Glu)
c.1886T>A (p.Val629Glu)
c.3740T>A (p.Val1247Glu)
c.1871T>A (p.Val624Glu)
c.1850T>A (p.Val617Glu)
c.4268T>A (p.Val1423Glu)
c.4121T>A (p.Val1374Glu)
c.3830T>A (p.Val1277Glu)
c.279T>A
c.278T>A (p.Val93Glu)
c.1359T>A
c.4355T>A (p.Val1452Glu)
c.4319T>A (p.Val1440Glu)
c.4409T>A (p.Val1470Glu)
c.4373T>A (p.Val1458Glu)
c.4349T>A (p.Val1450Glu)
c.4394T>A (p.Val1465Glu)
c.4334T>A (p.Val1445Glu)
c.4301T>A (p.Val1434Glu)
c.4364T>A (p.Val1455Glu)
c.4220T>A (p.Val1407Glu)
c.4400T>A (p.Val1467Glu)
c.4292T>A (p.Val1431Glu)
c.4256T>A (p.Val1419Glu)
c.4271T>A (p.Val1424Glu)
c.4181T>A (p.Val1394Glu)
c.4109T>A (p.Val1370Glu)
c.4193T>A (p.Val1398Glu)
c.4022T>A (p.Val1341Glu)
c.4439T>A (p.Val1480Glu)
c.4325T>A (p.Val1442Glu)
c.4307T>A (p.Val1436Glu)
c.4379T>A (p.Val1460Glu)
c.3839T>A (p.Val1280Glu)
c.4166T>A (p.Val1389Glu)
c.722T>A (p.Val241Glu)
c.4187T>A (p.Val1396Glu)
4g.113345973T>CCA357913307ANK2c.4463T>C (p.Val1488Ala)
c.4403T>C (p.Val1468Ala)
c.1004T>C (p.Val335Ala)
n.2505T>C
n.1959T>C
n.1167T>C
n.5959T>C
n.3836T>C
n.1938T>C
n.3335T>C
n.2702T>C
n.2048T>C
n.2466T>C
c.4322T>C (p.Val1441Ala)
c.4160T>C (p.Val1387Ala)
c.1709T>C (p.Val570Ala)
c.32T>C (p.Val11Ala)
c.4136T>C (p.Val1379Ala)
c.4223T>C (p.Val1408Ala)
c.4358T>C (p.Val1453Ala)
c.4259T>C (p.Val1420Ala)
c.4196T>C (p.Val1399Ala)
c.4061T>C (p.Val1354Ala)
c.4139T>C (p.Val1380Ala)
c.3938T>C (p.Val1313Ala)
c.4037T>C (p.Val1346Ala)
c.4367T>C (p.Val1456Ala)
c.4172T>C (p.Val1391Ala)
c.4157T>C (p.Val1386Ala)
c.4145T>C (p.Val1382Ala)
c.4124T>C (p.Val1375Ala)
c.4097T>C (p.Val1366Ala)
c.4295T>C (p.Val1432Ala)
c.1886T>C (p.Val629Ala)
c.3740T>C (p.Val1247Ala)
c.1871T>C (p.Val624Ala)
c.1850T>C (p.Val617Ala)
c.4268T>C (p.Val1423Ala)
c.4121T>C (p.Val1374Ala)
c.3830T>C (p.Val1277Ala)
c.279T>C
c.278T>C (p.Val93Ala)
c.1359T>C
c.4355T>C (p.Val1452Ala)
c.4319T>C (p.Val1440Ala)
c.4409T>C (p.Val1470Ala)
c.4373T>C (p.Val1458Ala)
c.4349T>C (p.Val1450Ala)
c.4394T>C (p.Val1465Ala)
c.4334T>C (p.Val1445Ala)
c.4301T>C (p.Val1434Ala)
c.4364T>C (p.Val1455Ala)
c.4220T>C (p.Val1407Ala)
c.4400T>C (p.Val1467Ala)
c.4292T>C (p.Val1431Ala)
c.4256T>C (p.Val1419Ala)
c.4271T>C (p.Val1424Ala)
c.4181T>C (p.Val1394Ala)
c.4109T>C (p.Val1370Ala)
c.4193T>C (p.Val1398Ala)
c.4022T>C (p.Val1341Ala)
c.4439T>C (p.Val1480Ala)
c.4325T>C (p.Val1442Ala)
c.4307T>C (p.Val1436Ala)
c.4379T>C (p.Val1460Ala)
c.3839T>C (p.Val1280Ala)
c.4166T>C (p.Val1389Ala)
c.722T>C (p.Val241Ala)
c.4187T>C (p.Val1396Ala)
4g.113345973T>GCA357913309ANK2c.4463T>G (p.Val1488Gly)
c.4403T>G (p.Val1468Gly)
c.1004T>G (p.Val335Gly)
n.2505T>G
n.1959T>G
n.1167T>G
n.5959T>G
n.3836T>G
n.1938T>G
n.3335T>G
n.2702T>G
n.2048T>G
n.2466T>G
c.4322T>G (p.Val1441Gly)
c.4160T>G (p.Val1387Gly)
c.1709T>G (p.Val570Gly)
c.32T>G (p.Val11Gly)
c.4136T>G (p.Val1379Gly)
c.4223T>G (p.Val1408Gly)
c.4358T>G (p.Val1453Gly)
c.4259T>G (p.Val1420Gly)
c.4196T>G (p.Val1399Gly)
c.4061T>G (p.Val1354Gly)
c.4139T>G (p.Val1380Gly)
c.3938T>G (p.Val1313Gly)
c.4037T>G (p.Val1346Gly)
c.4367T>G (p.Val1456Gly)
c.4172T>G (p.Val1391Gly)
c.4157T>G (p.Val1386Gly)
c.4145T>G (p.Val1382Gly)
c.4124T>G (p.Val1375Gly)
c.4097T>G (p.Val1366Gly)
c.4295T>G (p.Val1432Gly)
c.1886T>G (p.Val629Gly)
c.3740T>G (p.Val1247Gly)
c.1871T>G (p.Val624Gly)
c.1850T>G (p.Val617Gly)
c.4268T>G (p.Val1423Gly)
c.4121T>G (p.Val1374Gly)
c.3830T>G (p.Val1277Gly)
c.279T>G
c.278T>G (p.Val93Gly)
c.1359T>G
c.4355T>G (p.Val1452Gly)
c.4319T>G (p.Val1440Gly)
c.4409T>G (p.Val1470Gly)
c.4373T>G (p.Val1458Gly)
c.4349T>G (p.Val1450Gly)
c.4394T>G (p.Val1465Gly)
c.4334T>G (p.Val1445Gly)
c.4301T>G (p.Val1434Gly)
c.4364T>G (p.Val1455Gly)
c.4220T>G (p.Val1407Gly)
c.4400T>G (p.Val1467Gly)
c.4292T>G (p.Val1431Gly)
c.4256T>G (p.Val1419Gly)
c.4271T>G (p.Val1424Gly)
c.4181T>G (p.Val1394Gly)
c.4109T>G (p.Val1370Gly)
c.4193T>G (p.Val1398Gly)
c.4022T>G (p.Val1341Gly)
c.4439T>G (p.Val1480Gly)
c.4325T>G (p.Val1442Gly)
c.4307T>G (p.Val1436Gly)
c.4379T>G (p.Val1460Gly)
c.3839T>G (p.Val1280Gly)
c.4166T>G (p.Val1389Gly)
c.722T>G (p.Val241Gly)
c.4187T>G (p.Val1396Gly)
4g.113345974G>ACA440825311ANK2c.4464G>A (p.Val1488=)
c.4404G>A (p.Val1468=)
c.1005G>A (p.Val335=)
n.2506G>A
n.1960G>A
n.1168G>A
n.5960G>A
n.3837G>A
n.1939G>A
n.3336G>A
n.2703G>A
n.2049G>A
n.2467G>A
c.4323G>A (p.Val1441=)
c.4161G>A (p.Val1387=)
c.1710G>A (p.Val570=)
c.33G>A (p.Val11=)
c.4137G>A (p.Val1379=)
c.4224G>A (p.Val1408=)
c.4359G>A (p.Val1453=)
c.4260G>A (p.Val1420=)
c.4197G>A (p.Val1399=)
c.4062G>A (p.Val1354=)
c.4140G>A (p.Val1380=)
c.3939G>A (p.Val1313=)
c.4038G>A (p.Val1346=)
c.4368G>A (p.Val1456=)
c.4173G>A (p.Val1391=)
c.4158G>A (p.Val1386=)
c.4146G>A (p.Val1382=)
c.4125G>A (p.Val1375=)
c.4098G>A (p.Val1366=)
c.4296G>A (p.Val1432=)
c.1887G>A (p.Val629=)
c.3741G>A (p.Val1247=)
c.1872G>A (p.Val624=)
c.1851G>A (p.Val617=)
c.4269G>A (p.Val1423=)
c.4122G>A (p.Val1374=)
c.3831G>A (p.Val1277=)
c.280G>A
c.279G>A (p.Val93=)
c.1360G>A
c.4356G>A (p.Val1452=)
c.4320G>A (p.Val1440=)
c.4410G>A (p.Val1470=)
c.4374G>A (p.Val1458=)
c.4350G>A (p.Val1450=)
c.4395G>A (p.Val1465=)
c.4335G>A (p.Val1445=)
c.4302G>A (p.Val1434=)
c.4365G>A (p.Val1455=)
c.4221G>A (p.Val1407=)
c.4401G>A (p.Val1467=)
c.4293G>A (p.Val1431=)
c.4257G>A (p.Val1419=)
c.4272G>A (p.Val1424=)
c.4182G>A (p.Val1394=)
c.4110G>A (p.Val1370=)
c.4194G>A (p.Val1398=)
c.4023G>A (p.Val1341=)
c.4440G>A (p.Val1480=)
c.4326G>A (p.Val1442=)
c.4308G>A (p.Val1436=)
c.4380G>A (p.Val1460=)
c.3840G>A (p.Val1280=)
c.4167G>A (p.Val1389=)
c.723G>A (p.Val241=)
c.4188G>A (p.Val1396=)
ClinVar
4g.113345974G>CCA440825313ANK2c.4464G>C (p.Val1488=)
c.4404G>C (p.Val1468=)
c.1005G>C (p.Val335=)
n.2506G>C
n.1960G>C
n.1168G>C
n.5960G>C
n.3837G>C
n.1939G>C
n.3336G>C
n.2703G>C
n.2049G>C
n.2467G>C
c.4323G>C (p.Val1441=)
c.4161G>C (p.Val1387=)
c.1710G>C (p.Val570=)
c.33G>C (p.Val11=)
c.4137G>C (p.Val1379=)
c.4224G>C (p.Val1408=)
c.4359G>C (p.Val1453=)
c.4260G>C (p.Val1420=)
c.4197G>C (p.Val1399=)
c.4062G>C (p.Val1354=)
c.4140G>C (p.Val1380=)
c.3939G>C (p.Val1313=)
c.4038G>C (p.Val1346=)
c.4368G>C (p.Val1456=)
c.4173G>C (p.Val1391=)
c.4158G>C (p.Val1386=)
c.4146G>C (p.Val1382=)
c.4125G>C (p.Val1375=)
c.4098G>C (p.Val1366=)
c.4296G>C (p.Val1432=)
c.1887G>C (p.Val629=)
c.3741G>C (p.Val1247=)
c.1872G>C (p.Val624=)
c.1851G>C (p.Val617=)
c.4269G>C (p.Val1423=)
c.4122G>C (p.Val1374=)
c.3831G>C (p.Val1277=)
c.280G>C
c.279G>C (p.Val93=)
c.1360G>C
c.4356G>C (p.Val1452=)
c.4320G>C (p.Val1440=)
c.4410G>C (p.Val1470=)
c.4374G>C (p.Val1458=)
c.4350G>C (p.Val1450=)
c.4395G>C (p.Val1465=)
c.4335G>C (p.Val1445=)
c.4302G>C (p.Val1434=)
c.4365G>C (p.Val1455=)
c.4221G>C (p.Val1407=)
c.4401G>C (p.Val1467=)
c.4293G>C (p.Val1431=)
c.4257G>C (p.Val1419=)
c.4272G>C (p.Val1424=)
c.4182G>C (p.Val1394=)
c.4110G>C (p.Val1370=)
c.4194G>C (p.Val1398=)
c.4023G>C (p.Val1341=)
c.4440G>C (p.Val1480=)
c.4326G>C (p.Val1442=)
c.4308G>C (p.Val1436=)
c.4380G>C (p.Val1460=)
c.3840G>C (p.Val1280=)
c.4167G>C (p.Val1389=)
c.723G>C (p.Val241=)
c.4188G>C (p.Val1396=)
4g.113345974G>TCA440825312ANK2c.4464G>T (p.Val1488=)
c.4404G>T (p.Val1468=)
c.1005G>T (p.Val335=)
n.2506G>T
n.1960G>T
n.1168G>T
n.5960G>T
n.3837G>T
n.1939G>T
n.3336G>T
n.2703G>T
n.2049G>T
n.2467G>T
c.4323G>T (p.Val1441=)
c.4161G>T (p.Val1387=)
c.1710G>T (p.Val570=)
c.33G>T (p.Val11=)
c.4137G>T (p.Val1379=)
c.4224G>T (p.Val1408=)
c.4359G>T (p.Val1453=)
c.4260G>T (p.Val1420=)
c.4197G>T (p.Val1399=)
c.4062G>T (p.Val1354=)
c.4140G>T (p.Val1380=)
c.3939G>T (p.Val1313=)
c.4038G>T (p.Val1346=)
c.4368G>T (p.Val1456=)
c.4173G>T (p.Val1391=)
c.4158G>T (p.Val1386=)
c.4146G>T (p.Val1382=)
c.4125G>T (p.Val1375=)
c.4098G>T (p.Val1366=)
c.4296G>T (p.Val1432=)
c.1887G>T (p.Val629=)
c.3741G>T (p.Val1247=)
c.1872G>T (p.Val624=)
c.1851G>T (p.Val617=)
c.4269G>T (p.Val1423=)
c.4122G>T (p.Val1374=)
c.3831G>T (p.Val1277=)
c.280G>T
c.279G>T (p.Val93=)
c.1360G>T
c.4356G>T (p.Val1452=)
c.4320G>T (p.Val1440=)
c.4410G>T (p.Val1470=)
c.4374G>T (p.Val1458=)
c.4350G>T (p.Val1450=)
c.4395G>T (p.Val1465=)
c.4335G>T (p.Val1445=)
c.4302G>T (p.Val1434=)
c.4365G>T (p.Val1455=)
c.4221G>T (p.Val1407=)
c.4401G>T (p.Val1467=)
c.4293G>T (p.Val1431=)
c.4257G>T (p.Val1419=)
c.4272G>T (p.Val1424=)
c.4182G>T (p.Val1394=)
c.4110G>T (p.Val1370=)
c.4194G>T (p.Val1398=)
c.4023G>T (p.Val1341=)
c.4440G>T (p.Val1480=)
c.4326G>T (p.Val1442=)
c.4308G>T (p.Val1436=)
c.4380G>T (p.Val1460=)
c.3840G>T (p.Val1280=)
c.4167G>T (p.Val1389=)
c.723G>T (p.Val241=)
c.4188G>T (p.Val1396=)
4g.113345975C>ACA357913314ANK2c.4465C>A (p.His1489Asn)
c.4405C>A (p.His1469Asn)
c.1006C>A (p.His336Asn)
n.2507C>A
n.1961C>A
n.1169C>A
n.5961C>A
n.3838C>A
n.1940C>A
n.3337C>A
n.2704C>A
n.2050C>A
n.2468C>A
c.4324C>A (p.His1442Asn)
c.4162C>A (p.His1388Asn)
c.1711C>A (p.His571Asn)
c.34C>A (p.His12Asn)
c.4138C>A (p.His1380Asn)
c.4225C>A (p.His1409Asn)
c.4360C>A (p.His1454Asn)
c.4261C>A (p.His1421Asn)
c.4198C>A (p.His1400Asn)
c.4063C>A (p.His1355Asn)
c.4141C>A (p.His1381Asn)
c.3940C>A (p.His1314Asn)
c.4039C>A (p.His1347Asn)
c.4369C>A (p.His1457Asn)
c.4174C>A (p.His1392Asn)
c.4159C>A (p.His1387Asn)
c.4147C>A (p.His1383Asn)
c.4126C>A (p.His1376Asn)
c.4099C>A (p.His1367Asn)
c.4297C>A (p.His1433Asn)
c.1888C>A (p.His630Asn)
c.3742C>A (p.His1248Asn)
c.1873C>A (p.His625Asn)
c.1852C>A (p.His618Asn)
c.4270C>A (p.His1424Asn)
c.4123C>A (p.His1375Asn)
c.3832C>A (p.His1278Asn)
c.281C>A
c.280C>A (p.His94Asn)
c.1361C>A
c.4357C>A (p.His1453Asn)
c.4321C>A (p.His1441Asn)
c.4411C>A (p.His1471Asn)
c.4375C>A (p.His1459Asn)
c.4351C>A (p.His1451Asn)
c.4396C>A (p.His1466Asn)
c.4336C>A (p.His1446Asn)
c.4303C>A (p.His1435Asn)
c.4366C>A (p.His1456Asn)
c.4222C>A (p.His1408Asn)
c.4402C>A (p.His1468Asn)
c.4294C>A (p.His1432Asn)
c.4258C>A (p.His1420Asn)
c.4273C>A (p.His1425Asn)
c.4183C>A (p.His1395Asn)
c.4111C>A (p.His1371Asn)
c.4195C>A (p.His1399Asn)
c.4024C>A (p.His1342Asn)
c.4441C>A (p.His1481Asn)
c.4327C>A (p.His1443Asn)
c.4309C>A (p.His1437Asn)
c.4381C>A (p.His1461Asn)
c.3841C>A (p.His1281Asn)
c.4168C>A (p.His1390Asn)
c.724C>A (p.His242Asn)
c.4189C>A (p.His1397Asn)
4g.113345975C>GCA357913311ANK2c.4465C>G (p.His1489Asp)
c.4405C>G (p.His1469Asp)
c.1006C>G (p.His336Asp)
n.2507C>G
n.1961C>G
n.1169C>G
n.5961C>G
n.3838C>G
n.1940C>G
n.3337C>G
n.2704C>G
n.2050C>G
n.2468C>G
c.4324C>G (p.His1442Asp)
c.4162C>G (p.His1388Asp)
c.1711C>G (p.His571Asp)
c.34C>G (p.His12Asp)
c.4138C>G (p.His1380Asp)
c.4225C>G (p.His1409Asp)
c.4360C>G (p.His1454Asp)
c.4261C>G (p.His1421Asp)
c.4198C>G (p.His1400Asp)
c.4063C>G (p.His1355Asp)
c.4141C>G (p.His1381Asp)
c.3940C>G (p.His1314Asp)
c.4039C>G (p.His1347Asp)
c.4369C>G (p.His1457Asp)
c.4174C>G (p.His1392Asp)
c.4159C>G (p.His1387Asp)
c.4147C>G (p.His1383Asp)
c.4126C>G (p.His1376Asp)
c.4099C>G (p.His1367Asp)
c.4297C>G (p.His1433Asp)
c.1888C>G (p.His630Asp)
c.3742C>G (p.His1248Asp)
c.1873C>G (p.His625Asp)
c.1852C>G (p.His618Asp)
c.4270C>G (p.His1424Asp)
c.4123C>G (p.His1375Asp)
c.3832C>G (p.His1278Asp)
c.281C>G
c.280C>G (p.His94Asp)
c.1361C>G
c.4357C>G (p.His1453Asp)
c.4321C>G (p.His1441Asp)
c.4411C>G (p.His1471Asp)
c.4375C>G (p.His1459Asp)
c.4351C>G (p.His1451Asp)
c.4396C>G (p.His1466Asp)
c.4336C>G (p.His1446Asp)
c.4303C>G (p.His1435Asp)
c.4366C>G (p.His1456Asp)
c.4222C>G (p.His1408Asp)
c.4402C>G (p.His1468Asp)
c.4294C>G (p.His1432Asp)
c.4258C>G (p.His1420Asp)
c.4273C>G (p.His1425Asp)
c.4183C>G (p.His1395Asp)
c.4111C>G (p.His1371Asp)
c.4195C>G (p.His1399Asp)
c.4024C>G (p.His1342Asp)
c.4441C>G (p.His1481Asp)
c.4327C>G (p.His1443Asp)
c.4309C>G (p.His1437Asp)
c.4381C>G (p.His1461Asp)
c.3841C>G (p.His1281Asp)
c.4168C>G (p.His1390Asp)
c.724C>G (p.His242Asp)
c.4189C>G (p.His1397Asp)
4g.113345975C>TCA357913312ANK2c.4465C>T (p.His1489Tyr)
c.4405C>T (p.His1469Tyr)
c.1006C>T (p.His336Tyr)
n.2507C>T
n.1961C>T
n.1169C>T
n.5961C>T
n.3838C>T
n.1940C>T
n.3337C>T
n.2704C>T
n.2050C>T
n.2468C>T
c.4324C>T (p.His1442Tyr)
c.4162C>T (p.His1388Tyr)
c.1711C>T (p.His571Tyr)
c.34C>T (p.His12Tyr)
c.4138C>T (p.His1380Tyr)
c.4225C>T (p.His1409Tyr)
c.4360C>T (p.His1454Tyr)
c.4261C>T (p.His1421Tyr)
c.4198C>T (p.His1400Tyr)
c.4063C>T (p.His1355Tyr)
c.4141C>T (p.His1381Tyr)
c.3940C>T (p.His1314Tyr)
c.4039C>T (p.His1347Tyr)
c.4369C>T (p.His1457Tyr)
c.4174C>T (p.His1392Tyr)
c.4159C>T (p.His1387Tyr)
c.4147C>T (p.His1383Tyr)
c.4126C>T (p.His1376Tyr)
c.4099C>T (p.His1367Tyr)
c.4297C>T (p.His1433Tyr)
c.1888C>T (p.His630Tyr)
c.3742C>T (p.His1248Tyr)
c.1873C>T (p.His625Tyr)
c.1852C>T (p.His618Tyr)
c.4270C>T (p.His1424Tyr)
c.4123C>T (p.His1375Tyr)
c.3832C>T (p.His1278Tyr)
c.281C>T
c.280C>T (p.His94Tyr)
c.1361C>T
c.4357C>T (p.His1453Tyr)
c.4321C>T (p.His1441Tyr)
c.4411C>T (p.His1471Tyr)
c.4375C>T (p.His1459Tyr)
c.4351C>T (p.His1451Tyr)
c.4396C>T (p.His1466Tyr)
c.4336C>T (p.His1446Tyr)
c.4303C>T (p.His1435Tyr)
c.4366C>T (p.His1456Tyr)
c.4222C>T (p.His1408Tyr)
c.4402C>T (p.His1468Tyr)
c.4294C>T (p.His1432Tyr)
c.4258C>T (p.His1420Tyr)
c.4273C>T (p.His1425Tyr)
c.4183C>T (p.His1395Tyr)
c.4111C>T (p.His1371Tyr)
c.4195C>T (p.His1399Tyr)
c.4024C>T (p.His1342Tyr)
c.4441C>T (p.His1481Tyr)
c.4327C>T (p.His1443Tyr)
c.4309C>T (p.His1437Tyr)
c.4381C>T (p.His1461Tyr)
c.3841C>T (p.His1281Tyr)
c.4168C>T (p.His1390Tyr)
c.724C>T (p.His242Tyr)
c.4189C>T (p.His1397Tyr)
4g.113345976A>CCA357913317ANK2c.4466A>C (p.His1489Pro)
c.4406A>C (p.His1469Pro)
c.1007A>C (p.His336Pro)
n.2508A>C
n.1962A>C
n.1170A>C
n.5962A>C
n.3839A>C
n.1941A>C
n.3338A>C
n.2705A>C
n.2051A>C
n.2469A>C
c.4325A>C (p.His1442Pro)
c.4163A>C (p.His1388Pro)
c.1712A>C (p.His571Pro)
c.35A>C (p.His12Pro)
c.4139A>C (p.His1380Pro)
c.4226A>C (p.His1409Pro)
c.4361A>C (p.His1454Pro)
c.4262A>C (p.His1421Pro)
c.4199A>C (p.His1400Pro)
c.4064A>C (p.His1355Pro)
c.4142A>C (p.His1381Pro)
c.3941A>C (p.His1314Pro)
c.4040A>C (p.His1347Pro)
c.4370A>C (p.His1457Pro)
c.4175A>C (p.His1392Pro)
c.4160A>C (p.His1387Pro)
c.4148A>C (p.His1383Pro)
c.4127A>C (p.His1376Pro)
c.4100A>C (p.His1367Pro)
c.4298A>C (p.His1433Pro)
c.1889A>C (p.His630Pro)
c.3743A>C (p.His1248Pro)
c.1874A>C (p.His625Pro)
c.1853A>C (p.His618Pro)
c.4271A>C (p.His1424Pro)
c.4124A>C (p.His1375Pro)
c.3833A>C (p.His1278Pro)
c.282A>C
c.281A>C (p.His94Pro)
c.1362A>C
c.4358A>C (p.His1453Pro)
c.4322A>C (p.His1441Pro)
c.4412A>C (p.His1471Pro)
c.4376A>C (p.His1459Pro)
c.4352A>C (p.His1451Pro)
c.4397A>C (p.His1466Pro)
c.4337A>C (p.His1446Pro)
c.4304A>C (p.His1435Pro)
c.4367A>C (p.His1456Pro)
c.4223A>C (p.His1408Pro)
c.4403A>C (p.His1468Pro)
c.4295A>C (p.His1432Pro)
c.4259A>C (p.His1420Pro)
c.4274A>C (p.His1425Pro)
c.4184A>C (p.His1395Pro)
c.4112A>C (p.His1371Pro)
c.4196A>C (p.His1399Pro)
c.4025A>C (p.His1342Pro)
c.4442A>C (p.His1481Pro)
c.4328A>C (p.His1443Pro)
c.4310A>C (p.His1437Pro)
c.4382A>C (p.His1461Pro)
c.3842A>C (p.His1281Pro)
c.4169A>C (p.His1390Pro)
c.725A>C (p.His242Pro)
c.4190A>C (p.His1397Pro)
4g.113345976A>GCA357913318ANK2c.4466A>G (p.His1489Arg)
c.4406A>G (p.His1469Arg)
c.1007A>G (p.His336Arg)
n.2508A>G
n.1962A>G
n.1170A>G
n.5962A>G
n.3839A>G
n.1941A>G
n.3338A>G
n.2705A>G
n.2051A>G
n.2469A>G
c.4325A>G (p.His1442Arg)
c.4163A>G (p.His1388Arg)
c.1712A>G (p.His571Arg)
c.35A>G (p.His12Arg)
c.4139A>G (p.His1380Arg)
c.4226A>G (p.His1409Arg)
c.4361A>G (p.His1454Arg)
c.4262A>G (p.His1421Arg)
c.4199A>G (p.His1400Arg)
c.4064A>G (p.His1355Arg)
c.4142A>G (p.His1381Arg)
c.3941A>G (p.His1314Arg)
c.4040A>G (p.His1347Arg)
c.4370A>G (p.His1457Arg)
c.4175A>G (p.His1392Arg)
c.4160A>G (p.His1387Arg)
c.4148A>G (p.His1383Arg)
c.4127A>G (p.His1376Arg)
c.4100A>G (p.His1367Arg)
c.4298A>G (p.His1433Arg)
c.1889A>G (p.His630Arg)
c.3743A>G (p.His1248Arg)
c.1874A>G (p.His625Arg)
c.1853A>G (p.His618Arg)
c.4271A>G (p.His1424Arg)
c.4124A>G (p.His1375Arg)
c.3833A>G (p.His1278Arg)
c.282A>G
c.281A>G (p.His94Arg)
c.1362A>G
c.4358A>G (p.His1453Arg)
c.4322A>G (p.His1441Arg)
c.4412A>G (p.His1471Arg)
c.4376A>G (p.His1459Arg)
c.4352A>G (p.His1451Arg)
c.4397A>G (p.His1466Arg)
c.4337A>G (p.His1446Arg)
c.4304A>G (p.His1435Arg)
c.4367A>G (p.His1456Arg)
c.4223A>G (p.His1408Arg)
c.4403A>G (p.His1468Arg)
c.4295A>G (p.His1432Arg)
c.4259A>G (p.His1420Arg)
c.4274A>G (p.His1425Arg)
c.4184A>G (p.His1395Arg)
c.4112A>G (p.His1371Arg)
c.4196A>G (p.His1399Arg)
c.4025A>G (p.His1342Arg)
c.4442A>G (p.His1481Arg)
c.4328A>G (p.His1443Arg)
c.4310A>G (p.His1437Arg)
c.4382A>G (p.His1461Arg)
c.3842A>G (p.His1281Arg)
c.4169A>G (p.His1390Arg)
c.725A>G (p.His242Arg)
c.4190A>G (p.His1397Arg)
dbSNP gnomAD v2 gnomAD v4
4g.113345976A>TCA357913320ANK2c.4466A>T (p.His1489Leu)
c.4406A>T (p.His1469Leu)
c.1007A>T (p.His336Leu)
n.2508A>T
n.1962A>T
n.1170A>T
n.5962A>T
n.3839A>T
n.1941A>T
n.3338A>T
n.2705A>T
n.2051A>T
n.2469A>T
c.4325A>T (p.His1442Leu)
c.4163A>T (p.His1388Leu)
c.1712A>T (p.His571Leu)
c.35A>T (p.His12Leu)
c.4139A>T (p.His1380Leu)
c.4226A>T (p.His1409Leu)
c.4361A>T (p.His1454Leu)
c.4262A>T (p.His1421Leu)
c.4199A>T (p.His1400Leu)
c.4064A>T (p.His1355Leu)
c.4142A>T (p.His1381Leu)
c.3941A>T (p.His1314Leu)
c.4040A>T (p.His1347Leu)
c.4370A>T (p.His1457Leu)
c.4175A>T (p.His1392Leu)
c.4160A>T (p.His1387Leu)
c.4148A>T (p.His1383Leu)
c.4127A>T (p.His1376Leu)
c.4100A>T (p.His1367Leu)
c.4298A>T (p.His1433Leu)
c.1889A>T (p.His630Leu)
c.3743A>T (p.His1248Leu)
c.1874A>T (p.His625Leu)
c.1853A>T (p.His618Leu)
c.4271A>T (p.His1424Leu)
c.4124A>T (p.His1375Leu)
c.3833A>T (p.His1278Leu)
c.282A>T
c.281A>T (p.His94Leu)
c.1362A>T
c.4358A>T (p.His1453Leu)
c.4322A>T (p.His1441Leu)
c.4412A>T (p.His1471Leu)
c.4376A>T (p.His1459Leu)
c.4352A>T (p.His1451Leu)
c.4397A>T (p.His1466Leu)
c.4337A>T (p.His1446Leu)
c.4304A>T (p.His1435Leu)
c.4367A>T (p.His1456Leu)
c.4223A>T (p.His1408Leu)
c.4403A>T (p.His1468Leu)
c.4295A>T (p.His1432Leu)
c.4259A>T (p.His1420Leu)
c.4274A>T (p.His1425Leu)
c.4184A>T (p.His1395Leu)
c.4112A>T (p.His1371Leu)
c.4196A>T (p.His1399Leu)
c.4025A>T (p.His1342Leu)
c.4442A>T (p.His1481Leu)
c.4328A>T (p.His1443Leu)
c.4310A>T (p.His1437Leu)
c.4382A>T (p.His1461Leu)
c.3842A>T (p.His1281Leu)
c.4169A>T (p.His1390Leu)
c.725A>T (p.His242Leu)
c.4190A>T (p.His1397Leu)
4g.113345977T>ACA357913322ANK2c.4467T>A (p.His1489Gln)
c.4407T>A (p.His1469Gln)
c.1008T>A (p.His336Gln)
n.2509T>A
n.1963T>A
n.1171T>A
n.5963T>A
n.3840T>A
n.1942T>A
n.3339T>A
n.2706T>A
n.2052T>A
n.2470T>A
c.4326T>A (p.His1442Gln)
c.4164T>A (p.His1388Gln)
c.1713T>A (p.His571Gln)
c.36T>A (p.His12Gln)
c.4140T>A (p.His1380Gln)
c.4227T>A (p.His1409Gln)
c.4362T>A (p.His1454Gln)
c.4263T>A (p.His1421Gln)
c.4200T>A (p.His1400Gln)
c.4065T>A (p.His1355Gln)
c.4143T>A (p.His1381Gln)
c.3942T>A (p.His1314Gln)
c.4041T>A (p.His1347Gln)
c.4371T>A (p.His1457Gln)
c.4176T>A (p.His1392Gln)
c.4161T>A (p.His1387Gln)
c.4149T>A (p.His1383Gln)
c.4128T>A (p.His1376Gln)
c.4101T>A (p.His1367Gln)
c.4299T>A (p.His1433Gln)
c.1890T>A (p.His630Gln)
c.3744T>A (p.His1248Gln)
c.1875T>A (p.His625Gln)
c.1854T>A (p.His618Gln)
c.4272T>A (p.His1424Gln)
c.4125T>A (p.His1375Gln)
c.3834T>A (p.His1278Gln)
c.283T>A
c.282T>A (p.His94Gln)
c.1363T>A
c.4359T>A (p.His1453Gln)
c.4323T>A (p.His1441Gln)
c.4413T>A (p.His1471Gln)
c.4377T>A (p.His1459Gln)
c.4353T>A (p.His1451Gln)
c.4398T>A (p.His1466Gln)
c.4338T>A (p.His1446Gln)
c.4305T>A (p.His1435Gln)
c.4368T>A (p.His1456Gln)
c.4224T>A (p.His1408Gln)
c.4404T>A (p.His1468Gln)
c.4296T>A (p.His1432Gln)
c.4260T>A (p.His1420Gln)
c.4275T>A (p.His1425Gln)
c.4185T>A (p.His1395Gln)
c.4113T>A (p.His1371Gln)
c.4197T>A (p.His1399Gln)
c.4026T>A (p.His1342Gln)
c.4443T>A (p.His1481Gln)
c.4329T>A (p.His1443Gln)
c.4311T>A (p.His1437Gln)
c.4383T>A (p.His1461Gln)
c.3843T>A (p.His1281Gln)
c.4170T>A (p.His1390Gln)
c.726T>A (p.His242Gln)
c.4191T>A (p.His1397Gln)

Number of alleles fetched