Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.113345961C>A | CA357913262 | ANK2 | c.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) | |
4 | g.113345961C>G | CA357913264 | ANK2 | c.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) | |
4 | g.113345961C>T | CA300913 | ANK2 | c.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 |
4 | g.113345961_113345962delinsTA | CA103806765 | ANK2 | c.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 |
4 | g.113345962G>A | CA3051046 | ANK2 | c.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 |
4 | g.113345962G>C | CA3051045 | ANK2 | c.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 |
4 | g.113345962G>T | CA3051047 | ANK2 | c.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 |
4 | g.113345963A>C | CA440825295 | ANK2 | c.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=) | |
4 | g.113345963A>G | CA357913270 | ANK2 | c.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 |
4 | g.113345963A>T | CA357913271 | ANK2 | c.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) | |
4 | g.113345964G>A | CA357913274 | ANK2 | c.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) | |
4 | g.113345964G>C | CA357913275 | ANK2 | c.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) | |
4 | g.113345964G>T | CA357913277 | ANK2 | c.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) | |
4 | g.113345965A>C | CA357913281 | ANK2 | c.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) | |
4 | g.113345965A>G | CA440825297 | ANK2 | c.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=) | |
4 | g.113345965A>T | CA357913279 | ANK2 | c.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) | |
4 | g.113345966G>A | CA357913284 | ANK2 | c.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 |
4 | g.113345966G>C | CA357913286 | ANK2 | c.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) | |
4 | g.113345966G>T | CA218791 | ANK2 | c.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 |
4 | g.113345967G>A | CA3051048 | ANK2 | c.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 |
4 | g.113345967G>C | CA357913289 | ANK2 | c.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) | |
4 | g.113345967G>T | CA103806804 | ANK2 | c.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 |
4 | g.113345968C>A | CA440825301 | ANK2 | c.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=) | |
4 | g.113345968C>G | CA440825299 | ANK2 | c.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=) | |
4 | g.113345968C>T | CA440825300 | ANK2 | c.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=) | |
4 | g.113345969C>A | CA357913292 | ANK2 | c.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 |
4 | g.113345969C>G | CA357913293 | ANK2 | c.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) | |
4 | g.113345969C>T | CA440825303 | ANK2 | c.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=) | |
4 | g.113345970T>A | CA357913296 | ANK2 | c.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) | |
4 | g.113345970T>C | CA357913298 | ANK2 | c.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 |
4 | g.113345970T>G | CA357913299 | ANK2 | c.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 |
4 | g.113345971G>A | CA16604665 | ANK2 | c.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 |
4 | g.113345971G>C | CA440825307 | ANK2 | c.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=) | |
4 | g.113345971G>T | CA440825306 | ANK2 | c.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=) | |
4 | g.113345972G>A | CA357913302 | ANK2 | c.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) | |
4 | g.113345972G>C | CA357913304 | ANK2 | c.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) | |
4 | g.113345972G>T | CA357913305 | ANK2 | c.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) | |
4 | g.113345973T>A | CA357913306 | ANK2 | c.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) | |
4 | g.113345973T>C | CA357913307 | ANK2 | c.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) | |
4 | g.113345973T>G | CA357913309 | ANK2 | c.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) | |
4 | g.113345974G>A | CA440825311 | ANK2 | c.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 |
4 | g.113345974G>C | CA440825313 | ANK2 | c.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=) | |
4 | g.113345974G>T | CA440825312 | ANK2 | c.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=) | |
4 | g.113345975C>A | CA357913314 | ANK2 | c.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) | |
4 | g.113345975C>G | CA357913311 | ANK2 | c.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) | |
4 | g.113345975C>T | CA357913312 | ANK2 | c.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) | |
4 | g.113345976A>C | CA357913317 | ANK2 | c.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) | |
4 | g.113345976A>G | CA357913318 | ANK2 | c.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 |
4 | g.113345976A>T | CA357913320 | ANK2 | c.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) | |
4 | g.113345977T>A | CA357913322 | ANK2 | c.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) |