Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.4816675del | CA2741607950 | TICAM1 | c.1703del (p.Ala568GlufsTer?) c.1286del (p.Ala429GlufsTer?) c.1661del (p.Ala554GlufsTer?) c.1568del (p.Ala523GlufsTer?) c.1061del (p.Ala354GlufsTer?) | |
19 | g.4816675G>A | CA403489013 | TICAM1 | c.1703C>T (p.Ala568Val) c.1286C>T (p.Ala429Val) c.1661C>T (p.Ala554Val) c.1568C>T (p.Ala523Val) c.1061C>T (p.Ala354Val) | gnomAD v4 |
19 | g.4816675G>C | CA403489014 | TICAM1 | c.1703C>G (p.Ala568Gly) c.1286C>G (p.Ala429Gly) c.1661C>G (p.Ala554Gly) c.1568C>G (p.Ala523Gly) c.1061C>G (p.Ala354Gly) | |
19 | g.4816675G>T | CA403489015 | TICAM1 | c.1703C>A (p.Ala568Glu) c.1286C>A (p.Ala429Glu) c.1661C>A (p.Ala554Glu) c.1568C>A (p.Ala523Glu) c.1061C>A (p.Ala354Glu) | |
19 | g.4816676C>A | CA304547185 | TICAM1 | c.1702G>T (p.Ala568Ser) c.1285G>T (p.Ala429Ser) c.1660G>T (p.Ala554Ser) c.1567G>T (p.Ala523Ser) c.1060G>T (p.Ala354Ser) | dbSNP |
19 | g.4816676C= | CA2319604973 | TICAM1 | c.1702G= (p.Ala568=) c.1285G= (p.Ala429=) c.1660G= (p.Ala554=) c.1567G= (p.Ala523=) c.1060G= (p.Ala354=) | |
19 | g.4816676C>G | CA403489016 | TICAM1 | c.1702G>C (p.Ala568Pro) c.1285G>C (p.Ala429Pro) c.1660G>C (p.Ala554Pro) c.1567G>C (p.Ala523Pro) c.1060G>C (p.Ala354Pro) | |
19 | g.4816676C>T | CA9105081 | TICAM1 | c.1702G>A (p.Ala568Thr) c.1285G>A (p.Ala429Thr) c.1660G>A (p.Ala554Thr) c.1567G>A (p.Ala523Thr) c.1060G>A (p.Ala354Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816677G>A | CA505174446 | TICAM1 | c.1701C>T (p.Asn567=) c.1284C>T (p.Asn428=) c.1659C>T (p.Asn553=) c.1566C>T (p.Asn522=) c.1059C>T (p.Asn353=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816677G>C | CA403489017 | TICAM1 | c.1701C>G (p.Asn567Lys) c.1284C>G (p.Asn428Lys) c.1659C>G (p.Asn553Lys) c.1566C>G (p.Asn522Lys) c.1059C>G (p.Asn353Lys) | |
19 | g.4816677G= | CA2319604974 | TICAM1 | c.1701C= (p.Asn567=) c.1284C= (p.Asn428=) c.1659C= (p.Asn553=) c.1566C= (p.Asn522=) c.1059C= (p.Asn353=) | |
19 | g.4816677G>T | CA403489018 | TICAM1 | c.1701C>A (p.Asn567Lys) c.1284C>A (p.Asn428Lys) c.1659C>A (p.Asn553Lys) c.1566C>A (p.Asn522Lys) c.1059C>A (p.Asn353Lys) | |
19 | g.4816678T>A | CA403489019 | TICAM1 | c.1700A>T (p.Asn567Ile) c.1283A>T (p.Asn428Ile) c.1658A>T (p.Asn553Ile) c.1565A>T (p.Asn522Ile) c.1058A>T (p.Asn353Ile) | |
19 | g.4816678T>C | CA403489020 | TICAM1 | c.1700A>G (p.Asn567Ser) c.1283A>G (p.Asn428Ser) c.1658A>G (p.Asn553Ser) c.1565A>G (p.Asn522Ser) c.1058A>G (p.Asn353Ser) | |
19 | g.4816678T>G | CA403489021 | TICAM1 | c.1700A>C (p.Asn567Thr) c.1283A>C (p.Asn428Thr) c.1658A>C (p.Asn553Thr) c.1565A>C (p.Asn522Thr) c.1058A>C (p.Asn353Thr) | |
19 | g.4816679T>A | CA403489022 | TICAM1 | c.1699A>T (p.Asn567Tyr) c.1282A>T (p.Asn428Tyr) c.1657A>T (p.Asn553Tyr) c.1564A>T (p.Asn522Tyr) c.1057A>T (p.Asn353Tyr) | |
19 | g.4816679T>C | CA403489024 | TICAM1 | c.1699A>G (p.Asn567Asp) c.1282A>G (p.Asn428Asp) c.1657A>G (p.Asn553Asp) c.1564A>G (p.Asn522Asp) c.1057A>G (p.Asn353Asp) | |
19 | g.4816679T>G | CA403489023 | TICAM1 | c.1699A>C (p.Asn567His) c.1282A>C (p.Asn428His) c.1657A>C (p.Asn553His) c.1564A>C (p.Asn522His) c.1057A>C (p.Asn353His) | |
19 | g.4816680C>A | CA505174450 | TICAM1 | c.1698G>T (p.Leu566=) c.1281G>T (p.Leu427=) c.1656G>T (p.Leu552=) c.1563G>T (p.Leu521=) c.1056G>T (p.Leu352=) | |
19 | g.4816680C>G | CA505174449 | TICAM1 | c.1698G>C (p.Leu566=) c.1281G>C (p.Leu427=) c.1656G>C (p.Leu552=) c.1563G>C (p.Leu521=) c.1056G>C (p.Leu352=) | |
19 | g.4816680C>T | CA505174448 | TICAM1 | c.1698G>A (p.Leu566=) c.1281G>A (p.Leu427=) c.1656G>A (p.Leu552=) c.1563G>A (p.Leu521=) c.1056G>A (p.Leu352=) | |
19 | g.4816681A>C | CA403489025 | TICAM1 | c.1697T>G (p.Leu566Arg) c.1280T>G (p.Leu427Arg) c.1655T>G (p.Leu552Arg) c.1562T>G (p.Leu521Arg) c.1055T>G (p.Leu352Arg) | gnomAD v4 |
19 | g.4816681A>G | CA403489027 | TICAM1 | c.1697T>C (p.Leu566Pro) c.1280T>C (p.Leu427Pro) c.1655T>C (p.Leu552Pro) c.1562T>C (p.Leu521Pro) c.1055T>C (p.Leu352Pro) | |
19 | g.4816681A>T | CA403489026 | TICAM1 | c.1697T>A (p.Leu566Gln) c.1280T>A (p.Leu427Gln) c.1655T>A (p.Leu552Gln) c.1562T>A (p.Leu521Gln) c.1055T>A (p.Leu352Gln) | |
19 | g.4816682G>A | CA505174452 | TICAM1 | c.1696C>T (p.Leu566=) c.1279C>T (p.Leu427=) c.1654C>T (p.Leu552=) c.1561C>T (p.Leu521=) c.1054C>T (p.Leu352=) | dbSNP |
19 | g.4816682G>C | CA403489028 | TICAM1 | c.1696C>G (p.Leu566Val) c.1279C>G (p.Leu427Val) c.1654C>G (p.Leu552Val) c.1561C>G (p.Leu521Val) c.1054C>G (p.Leu352Val) | |
19 | g.4816682G= | CA2319604975 | TICAM1 | c.1696C= (p.Leu566=) c.1279C= (p.Leu427=) c.1654C= (p.Leu552=) c.1561C= (p.Leu521=) c.1054C= (p.Leu352=) | |
19 | g.4816682G>T | CA403489029 | TICAM1 | c.1696C>A (p.Leu566Met) c.1279C>A (p.Leu427Met) c.1654C>A (p.Leu552Met) c.1561C>A (p.Leu521Met) c.1054C>A (p.Leu352Met) | ClinVar dbSNP gnomAD v4 |
19 | g.4816683T>A | CA505174453 | TICAM1 | c.1695A>T (p.Ala565=) c.1278A>T (p.Ala426=) c.1653A>T (p.Ala551=) c.1560A>T (p.Ala520=) c.1053A>T (p.Ala351=) | |
19 | g.4816683T>C | CA505174454 | TICAM1 | c.1695A>G (p.Ala565=) c.1278A>G (p.Ala426=) c.1653A>G (p.Ala551=) c.1560A>G (p.Ala520=) c.1053A>G (p.Ala351=) | |
19 | g.4816683T>G | CA505174455 | TICAM1 | c.1695A>C (p.Ala565=) c.1278A>C (p.Ala426=) c.1653A>C (p.Ala551=) c.1560A>C (p.Ala520=) c.1053A>C (p.Ala351=) | |
19 | g.4816684G>A | CA403489030 | TICAM1 | c.1694C>T (p.Ala565Val) c.1277C>T (p.Ala426Val) c.1652C>T (p.Ala551Val) c.1559C>T (p.Ala520Val) c.1052C>T (p.Ala351Val) | |
19 | g.4816684G>C | CA403489031 | TICAM1 | c.1694C>G (p.Ala565Gly) c.1277C>G (p.Ala426Gly) c.1652C>G (p.Ala551Gly) c.1559C>G (p.Ala520Gly) c.1052C>G (p.Ala351Gly) | |
19 | g.4816684G>T | CA403489032 | TICAM1 | c.1694C>A (p.Ala565Glu) c.1277C>A (p.Ala426Glu) c.1652C>A (p.Ala551Glu) c.1559C>A (p.Ala520Glu) c.1052C>A (p.Ala351Glu) | |
19 | g.4816685C>A | CA403489033 | TICAM1 | c.1693G>T (p.Ala565Ser) c.1276G>T (p.Ala426Ser) c.1651G>T (p.Ala551Ser) c.1558G>T (p.Ala520Ser) c.1051G>T (p.Ala351Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816685C= | CA2319604976 | TICAM1 | c.1693G= (p.Ala565=) c.1276G= (p.Ala426=) c.1651G= (p.Ala551=) c.1558G= (p.Ala520=) c.1051G= (p.Ala351=) | |
19 | g.4816685C>G | CA403489034 | TICAM1 | c.1693G>C (p.Ala565Pro) c.1276G>C (p.Ala426Pro) c.1651G>C (p.Ala551Pro) c.1558G>C (p.Ala520Pro) c.1051G>C (p.Ala351Pro) | |
19 | g.4816685C>T | CA403489035 | TICAM1 | c.1693G>A (p.Ala565Thr) c.1276G>A (p.Ala426Thr) c.1651G>A (p.Ala551Thr) c.1558G>A (p.Ala520Thr) c.1051G>A (p.Ala351Thr) | gnomAD v4 |
19 | g.4816686C>A | CA505174457 | TICAM1 | c.1692G>T (p.Ala564=) c.1275G>T (p.Ala425=) c.1650G>T (p.Ala550=) c.1557G>T (p.Ala519=) c.1050G>T (p.Ala350=) | |
19 | g.4816686C= | CA2319604977 | TICAM1 | c.1692G= (p.Ala564=) c.1275G= (p.Ala425=) c.1650G= (p.Ala550=) c.1557G= (p.Ala519=) c.1050G= (p.Ala350=) | |
19 | g.4816686C>G | CA505174459 | TICAM1 | c.1692G>C (p.Ala564=) c.1275G>C (p.Ala425=) c.1650G>C (p.Ala550=) c.1557G>C (p.Ala519=) c.1050G>C (p.Ala350=) | |
19 | g.4816686C>T | CA9105082 | TICAM1 | c.1692G>A (p.Ala564=) c.1275G>A (p.Ala425=) c.1650G>A (p.Ala550=) c.1557G>A (p.Ala519=) c.1050G>A (p.Ala350=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816687G>A | CA403489036 | TICAM1 | c.1691C>T (p.Ala564Val) c.1274C>T (p.Ala425Val) c.1649C>T (p.Ala550Val) c.1556C>T (p.Ala519Val) c.1049C>T (p.Ala350Val) | gnomAD v4 |
19 | g.4816687G>C | CA403489037 | TICAM1 | c.1691C>G (p.Ala564Gly) c.1274C>G (p.Ala425Gly) c.1649C>G (p.Ala550Gly) c.1556C>G (p.Ala519Gly) c.1049C>G (p.Ala350Gly) | dbSNP |
19 | g.4816687G= | CA2319604978 | TICAM1 | c.1691C= (p.Ala564=) c.1274C= (p.Ala425=) c.1649C= (p.Ala550=) c.1556C= (p.Ala519=) c.1049C= (p.Ala350=) | |
19 | g.4816687G>T | CA403489038 | TICAM1 | c.1691C>A (p.Ala564Glu) c.1274C>A (p.Ala425Glu) c.1649C>A (p.Ala550Glu) c.1556C>A (p.Ala519Glu) c.1049C>A (p.Ala350Glu) | dbSNP gnomAD v4 |
19 | g.4816688C>A | CA403489039 | TICAM1 | c.1690G>T (p.Ala564Ser) c.1273G>T (p.Ala425Ser) c.1648G>T (p.Ala550Ser) c.1555G>T (p.Ala519Ser) c.1048G>T (p.Ala350Ser) | |
19 | g.4816688C>G | CA403489040 | TICAM1 | c.1690G>C (p.Ala564Pro) c.1273G>C (p.Ala425Pro) c.1648G>C (p.Ala550Pro) c.1555G>C (p.Ala519Pro) c.1048G>C (p.Ala350Pro) | |
19 | g.4816688C>T | CA403489041 | TICAM1 | c.1690G>A (p.Ala564Thr) c.1273G>A (p.Ala425Thr) c.1648G>A (p.Ala550Thr) c.1555G>A (p.Ala519Thr) c.1048G>A (p.Ala350Thr) | |
19 | g.4816689C>A | CA505174067 | TICAM1 | c.1689G>T (p.Ala563=) c.1272G>T (p.Ala424=) c.1647G>T (p.Ala549=) c.1554G>T (p.Ala518=) c.1047G>T (p.Ala349=) | dbSNP |
19 | g.4816689C= | CA2319604979 | TICAM1 | c.1689G= (p.Ala563=) c.1272G= (p.Ala424=) c.1647G= (p.Ala549=) c.1554G= (p.Ala518=) c.1047G= (p.Ala349=) | |
19 | g.4816689C>G | CA505174069 | TICAM1 | c.1689G>C (p.Ala563=) c.1272G>C (p.Ala424=) c.1647G>C (p.Ala549=) c.1554G>C (p.Ala518=) c.1047G>C (p.Ala349=) | |
19 | g.4816689C>T | CA505174070 | TICAM1 | c.1689G>A (p.Ala563=) c.1272G>A (p.Ala424=) c.1647G>A (p.Ala549=) c.1554G>A (p.Ala518=) c.1047G>A (p.Ala349=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816690G>A | CA403489042 | TICAM1 | c.1688C>T (p.Ala563Val) c.1271C>T (p.Ala424Val) c.1646C>T (p.Ala549Val) c.1553C>T (p.Ala518Val) c.1046C>T (p.Ala349Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816690G>C | CA403489044 | TICAM1 | c.1688C>G (p.Ala563Gly) c.1271C>G (p.Ala424Gly) c.1646C>G (p.Ala549Gly) c.1553C>G (p.Ala518Gly) c.1046C>G (p.Ala349Gly) | |
19 | g.4816690G= | CA2319604980 | TICAM1 | c.1688C= (p.Ala563=) c.1271C= (p.Ala424=) c.1646C= (p.Ala549=) c.1553C= (p.Ala518=) c.1046C= (p.Ala349=) | |
19 | g.4816690G>T | CA403489043 | TICAM1 | c.1688C>A (p.Ala563Glu) c.1271C>A (p.Ala424Glu) c.1646C>A (p.Ala549Glu) c.1553C>A (p.Ala518Glu) c.1046C>A (p.Ala349Glu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816691C>A | CA403489045 | TICAM1 | c.1687G>T (p.Ala563Ser) c.1270G>T (p.Ala424Ser) c.1645G>T (p.Ala549Ser) c.1552G>T (p.Ala518Ser) c.1045G>T (p.Ala349Ser) | |
19 | g.4816691C= | CA2319604981 | TICAM1 | c.1687G= (p.Ala563=) c.1270G= (p.Ala424=) c.1645G= (p.Ala549=) c.1552G= (p.Ala518=) c.1045G= (p.Ala349=) | |
19 | g.4816691C>G | CA403489046 | TICAM1 | c.1687G>C (p.Ala563Pro) c.1270G>C (p.Ala424Pro) c.1645G>C (p.Ala549Pro) c.1552G>C (p.Ala518Pro) c.1045G>C (p.Ala349Pro) | |
19 | g.4816691C>T | CA403489047 | TICAM1 | c.1687G>A (p.Ala563Thr) c.1270G>A (p.Ala424Thr) c.1645G>A (p.Ala549Thr) c.1552G>A (p.Ala518Thr) c.1045G>A (p.Ala349Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816692C>A | CA403489048 | TICAM1 | c.1686G>T (p.Gln562His) c.1269G>T (p.Gln423His) c.1644G>T (p.Gln548His) c.1551G>T (p.Gln517His) c.1044G>T (p.Gln348His) | |
19 | g.4816692C>G | CA403489049 | TICAM1 | c.1686G>C (p.Gln562His) c.1269G>C (p.Gln423His) c.1644G>C (p.Gln548His) c.1551G>C (p.Gln517His) c.1044G>C (p.Gln348His) | |
19 | g.4816692C>T | CA505174074 | TICAM1 | c.1686G>A (p.Gln562=) c.1269G>A (p.Gln423=) c.1644G>A (p.Gln548=) c.1551G>A (p.Gln517=) c.1044G>A (p.Gln348=) | |
19 | g.4816693T>A | CA403489050 | TICAM1 | c.1685A>T (p.Gln562Leu) c.1268A>T (p.Gln423Leu) c.1643A>T (p.Gln548Leu) c.1550A>T (p.Gln517Leu) c.1043A>T (p.Gln348Leu) | |
19 | g.4816693T>C | CA403489051 | TICAM1 | c.1685A>G (p.Gln562Arg) c.1268A>G (p.Gln423Arg) c.1643A>G (p.Gln548Arg) c.1550A>G (p.Gln517Arg) c.1043A>G (p.Gln348Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816693T>G | CA403489052 | TICAM1 | c.1685A>C (p.Gln562Pro) c.1268A>C (p.Gln423Pro) c.1643A>C (p.Gln548Pro) c.1550A>C (p.Gln517Pro) c.1043A>C (p.Gln348Pro) | |
19 | g.4816693T= | CA2319604982 | TICAM1 | c.1685A= (p.Gln562=) c.1268A= (p.Gln423=) c.1643A= (p.Gln548=) c.1550A= (p.Gln517=) c.1043A= (p.Gln348=) | |
19 | g.4816694G>A | CA403489053 | TICAM1 | c.1684C>T (p.Gln562Ter) c.1267C>T (p.Gln423Ter) c.1642C>T (p.Gln548Ter) c.1549C>T (p.Gln517Ter) c.1042C>T (p.Gln348Ter) | |
19 | g.4816694G>C | CA403489054 | TICAM1 | c.1684C>G (p.Gln562Glu) c.1267C>G (p.Gln423Glu) c.1642C>G (p.Gln548Glu) c.1549C>G (p.Gln517Glu) c.1042C>G (p.Gln348Glu) | |
19 | g.4816694G>T | CA403489055 | TICAM1 | c.1684C>A (p.Gln562Lys) c.1267C>A (p.Gln423Lys) c.1642C>A (p.Gln548Lys) c.1549C>A (p.Gln517Lys) c.1042C>A (p.Gln348Lys) | |
19 | g.4816695C>A | CA403489056 | TICAM1 | c.1683G>T (p.Met561Ile) c.1266G>T (p.Met422Ile) c.1641G>T (p.Met547Ile) c.1548G>T (p.Met516Ile) c.1041G>T (p.Met347Ile) | |
19 | g.4816695C>G | CA403489058 | TICAM1 | c.1683G>C (p.Met561Ile) c.1266G>C (p.Met422Ile) c.1641G>C (p.Met547Ile) c.1548G>C (p.Met516Ile) c.1041G>C (p.Met347Ile) | |
19 | g.4816695C>T | CA403489057 | TICAM1 | c.1683G>A (p.Met561Ile) c.1266G>A (p.Met422Ile) c.1641G>A (p.Met547Ile) c.1548G>A (p.Met516Ile) c.1041G>A (p.Met347Ile) | |
19 | g.4816696A>C | CA403489059 | TICAM1 | c.1682T>G (p.Met561Arg) c.1265T>G (p.Met422Arg) c.1640T>G (p.Met547Arg) c.1547T>G (p.Met516Arg) c.1040T>G (p.Met347Arg) | |
19 | g.4816696A>G | CA403489060 | TICAM1 | c.1682T>C (p.Met561Thr) c.1265T>C (p.Met422Thr) c.1640T>C (p.Met547Thr) c.1547T>C (p.Met516Thr) c.1040T>C (p.Met347Thr) | |
19 | g.4816696A>T | CA403489061 | TICAM1 | c.1682T>A (p.Met561Lys) c.1265T>A (p.Met422Lys) c.1640T>A (p.Met547Lys) c.1547T>A (p.Met516Lys) c.1040T>A (p.Met347Lys) | |
19 | g.4816697T>A | CA403489062 | TICAM1 | c.1681A>T (p.Met561Leu) c.1264A>T (p.Met422Leu) c.1639A>T (p.Met547Leu) c.1546A>T (p.Met516Leu) c.1039A>T (p.Met347Leu) | |
19 | g.4816697T>C | CA403489063 | TICAM1 | c.1681A>G (p.Met561Val) c.1264A>G (p.Met422Val) c.1639A>G (p.Met547Val) c.1546A>G (p.Met516Val) c.1039A>G (p.Met347Val) | gnomAD v4 |
19 | g.4816697T>G | CA403489064 | TICAM1 | c.1681A>C (p.Met561Leu) c.1264A>C (p.Met422Leu) c.1639A>C (p.Met547Leu) c.1546A>C (p.Met516Leu) c.1039A>C (p.Met347Leu) | |
19 | g.4816698C>A | CA505174078 | TICAM1 | c.1680G>T (p.Arg560=) c.1263G>T (p.Arg421=) c.1638G>T (p.Arg546=) c.1545G>T (p.Arg515=) c.1038G>T (p.Arg346=) | gnomAD v4 |
19 | g.4816698C>G | CA505174079 | TICAM1 | c.1680G>C (p.Arg560=) c.1263G>C (p.Arg421=) c.1638G>C (p.Arg546=) c.1545G>C (p.Arg515=) c.1038G>C (p.Arg346=) | |
19 | g.4816698C>T | CA505174080 | TICAM1 | c.1680G>A (p.Arg560=) c.1263G>A (p.Arg421=) c.1638G>A (p.Arg546=) c.1545G>A (p.Arg515=) c.1038G>A (p.Arg346=) | gnomAD v4 |
19 | g.4816699C>A | CA403489065 | TICAM1 | c.1679G>T (p.Arg560Leu) c.1262G>T (p.Arg421Leu) c.1637G>T (p.Arg546Leu) c.1544G>T (p.Arg515Leu) c.1037G>T (p.Arg346Leu) | |
19 | g.4816699C= | CA2319604983 | TICAM1 | c.1679G= (p.Arg560=) c.1262G= (p.Arg421=) c.1637G= (p.Arg546=) c.1544G= (p.Arg515=) c.1037G= (p.Arg346=) | |
19 | g.4816699C>G | CA403489066 | TICAM1 | c.1679G>C (p.Arg560Pro) c.1262G>C (p.Arg421Pro) c.1637G>C (p.Arg546Pro) c.1544G>C (p.Arg515Pro) c.1037G>C (p.Arg346Pro) | |
19 | g.4816699C>T | CA403489067 | TICAM1 | c.1679G>A (p.Arg560Gln) c.1262G>A (p.Arg421Gln) c.1637G>A (p.Arg546Gln) c.1544G>A (p.Arg515Gln) c.1037G>A (p.Arg346Gln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816700G>A | CA9105083 | TICAM1 | c.1678C>T (p.Arg560Trp) c.1261C>T (p.Arg421Trp) c.1636C>T (p.Arg546Trp) c.1543C>T (p.Arg515Trp) c.1036C>T (p.Arg346Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.4816700G>C | CA403489068 | TICAM1 | c.1678C>G (p.Arg560Gly) c.1261C>G (p.Arg421Gly) c.1636C>G (p.Arg546Gly) c.1543C>G (p.Arg515Gly) c.1036C>G (p.Arg346Gly) | gnomAD v4 |
19 | g.4816700G= | CA2319604984 | TICAM1 | c.1678C= (p.Arg560=) c.1261C= (p.Arg421=) c.1636C= (p.Arg546=) c.1543C= (p.Arg515=) c.1036C= (p.Arg346=) | |
19 | g.4816700G>T | CA505174082 | TICAM1 | c.1678C>A (p.Arg560=) c.1261C>A (p.Arg421=) c.1636C>A (p.Arg546=) c.1543C>A (p.Arg515=) c.1036C>A (p.Arg346=) | dbSNP |
19 | g.4816701C>A | CA403489069 | TICAM1 | c.1677G>T (p.Glu559Asp) c.1260G>T (p.Glu420Asp) c.1635G>T (p.Glu545Asp) c.1542G>T (p.Glu514Asp) c.1035G>T (p.Glu345Asp) | |
19 | g.4816701C>G | CA403489070 | TICAM1 | c.1677G>C (p.Glu559Asp) c.1260G>C (p.Glu420Asp) c.1635G>C (p.Glu545Asp) c.1542G>C (p.Glu514Asp) c.1035G>C (p.Glu345Asp) | |
19 | g.4816701C>T | CA505174083 | TICAM1 | c.1677G>A (p.Glu559=) c.1260G>A (p.Glu420=) c.1635G>A (p.Glu545=) c.1542G>A (p.Glu514=) c.1035G>A (p.Glu345=) | |
19 | g.4816702T>A | CA403489071 | TICAM1 | c.1676A>T (p.Glu559Val) c.1259A>T (p.Glu420Val) c.1634A>T (p.Glu545Val) c.1541A>T (p.Glu514Val) c.1034A>T (p.Glu345Val) | |
19 | g.4816702T>C | CA403489073 | TICAM1 | c.1676A>G (p.Glu559Gly) c.1259A>G (p.Glu420Gly) c.1634A>G (p.Glu545Gly) c.1541A>G (p.Glu514Gly) c.1034A>G (p.Glu345Gly) | |
19 | g.4816702T>G | CA403489072 | TICAM1 | c.1676A>C (p.Glu559Ala) c.1259A>C (p.Glu420Ala) c.1634A>C (p.Glu545Ala) c.1541A>C (p.Glu514Ala) c.1034A>C (p.Glu345Ala) | |
19 | g.4816703C>A | CA403489074 | TICAM1 | c.1675G>T (p.Glu559Ter) c.1258G>T (p.Glu420Ter) c.1633G>T (p.Glu545Ter) c.1540G>T (p.Glu514Ter) c.1033G>T (p.Glu345Ter) | |
19 | g.4816703C>G | CA403489075 | TICAM1 | c.1675G>C (p.Glu559Gln) c.1258G>C (p.Glu420Gln) c.1633G>C (p.Glu545Gln) c.1540G>C (p.Glu514Gln) c.1033G>C (p.Glu345Gln) | |
19 | g.4816703C>T | CA403489076 | TICAM1 | c.1675G>A (p.Glu559Lys) c.1258G>A (p.Glu420Lys) c.1633G>A (p.Glu545Lys) c.1540G>A (p.Glu514Lys) c.1033G>A (p.Glu345Lys) | gnomAD v4 |
19 | g.4816704A= | CA2319604985 | TICAM1 | c.1674T= (p.Gly558=) c.1257T= (p.Gly419=) c.1632T= (p.Gly544=) c.1539T= (p.Gly513=) c.1032T= (p.Gly344=) | |
19 | g.4816704A>C | CA505174085 | TICAM1 | c.1674T>G (p.Gly558=) c.1257T>G (p.Gly419=) c.1632T>G (p.Gly544=) c.1539T>G (p.Gly513=) c.1032T>G (p.Gly344=) | |
19 | g.4816704A>G | CA505174086 | TICAM1 | c.1674T>C (p.Gly558=) c.1257T>C (p.Gly419=) c.1632T>C (p.Gly544=) c.1539T>C (p.Gly513=) c.1032T>C (p.Gly344=) | ClinVar dbSNP gnomAD v4 |
19 | g.4816704A>T | CA505174087 | TICAM1 | c.1674T>A (p.Gly558=) c.1257T>A (p.Gly419=) c.1632T>A (p.Gly544=) c.1539T>A (p.Gly513=) c.1032T>A (p.Gly344=) | |
19 | g.4816705C>A | CA403489077 | TICAM1 | c.1673G>T (p.Gly558Val) c.1256G>T (p.Gly419Val) c.1631G>T (p.Gly544Val) c.1538G>T (p.Gly513Val) c.1031G>T (p.Gly344Val) | |
19 | g.4816705C>G | CA403489078 | TICAM1 | c.1673G>C (p.Gly558Ala) c.1256G>C (p.Gly419Ala) c.1631G>C (p.Gly544Ala) c.1538G>C (p.Gly513Ala) c.1031G>C (p.Gly344Ala) | |
19 | g.4816705C>T | CA403489079 | TICAM1 | c.1673G>A (p.Gly558Asp) c.1256G>A (p.Gly419Asp) c.1631G>A (p.Gly544Asp) c.1538G>A (p.Gly513Asp) c.1031G>A (p.Gly344Asp) | gnomAD v4 |
19 | g.4816706C>A | CA403489080 | TICAM1 | c.1672G>T (p.Gly558Cys) c.1255G>T (p.Gly419Cys) c.1630G>T (p.Gly544Cys) c.1537G>T (p.Gly513Cys) c.1030G>T (p.Gly344Cys) | |
19 | g.4816706C= | CA2319604986 | TICAM1 | c.1672G= (p.Gly558=) c.1255G= (p.Gly419=) c.1630G= (p.Gly544=) c.1537G= (p.Gly513=) c.1030G= (p.Gly344=) | |
19 | g.4816706C>G | CA403489081 | TICAM1 | c.1672G>C (p.Gly558Arg) c.1255G>C (p.Gly419Arg) c.1630G>C (p.Gly544Arg) c.1537G>C (p.Gly513Arg) c.1030G>C (p.Gly344Arg) | |
19 | g.4816706C>T | CA9105084 | TICAM1 | c.1672G>A (p.Gly558Ser) c.1255G>A (p.Gly419Ser) c.1630G>A (p.Gly544Ser) c.1537G>A (p.Gly513Ser) c.1030G>A (p.Gly344Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816707G>A | CA9105085 | TICAM1 | c.1671C>T (p.Asp557=) c.1254C>T (p.Asp418=) c.1629C>T (p.Asp543=) c.1536C>T (p.Asp512=) c.1029C>T (p.Asp343=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816707G>C | CA403489083 | TICAM1 | c.1671C>G (p.Asp557Glu) c.1254C>G (p.Asp418Glu) c.1629C>G (p.Asp543Glu) c.1536C>G (p.Asp512Glu) c.1029C>G (p.Asp343Glu) | |
19 | g.4816707G= | CA2319604987 | TICAM1 | c.1671C= (p.Asp557=) c.1254C= (p.Asp418=) c.1629C= (p.Asp543=) c.1536C= (p.Asp512=) c.1029C= (p.Asp343=) | |
19 | g.4816707G>T | CA403489082 | TICAM1 | c.1671C>A (p.Asp557Glu) c.1254C>A (p.Asp418Glu) c.1629C>A (p.Asp543Glu) c.1536C>A (p.Asp512Glu) c.1029C>A (p.Asp343Glu) | gnomAD v4 |
19 | g.4816708T>A | CA403489084 | TICAM1 | c.1670A>T (p.Asp557Val) c.1253A>T (p.Asp418Val) c.1628A>T (p.Asp543Val) c.1535A>T (p.Asp512Val) c.1028A>T (p.Asp343Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816708T>C | CA403489086 | TICAM1 | c.1670A>G (p.Asp557Gly) c.1253A>G (p.Asp418Gly) c.1628A>G (p.Asp543Gly) c.1535A>G (p.Asp512Gly) c.1028A>G (p.Asp343Gly) | dbSNP |
19 | g.4816708T>G | CA403489085 | TICAM1 | c.1670A>C (p.Asp557Ala) c.1253A>C (p.Asp418Ala) c.1628A>C (p.Asp543Ala) c.1535A>C (p.Asp512Ala) c.1028A>C (p.Asp343Ala) | |
19 | g.4816708T= | CA2319604988 | TICAM1 | c.1670A= (p.Asp557=) c.1253A= (p.Asp418=) c.1628A= (p.Asp543=) c.1535A= (p.Asp512=) c.1028A= (p.Asp343=) | |
19 | g.4816709C>A | CA403489087 | TICAM1 | c.1669G>T (p.Asp557Tyr) c.1252G>T (p.Asp418Tyr) c.1627G>T (p.Asp543Tyr) c.1534G>T (p.Asp512Tyr) c.1027G>T (p.Asp343Tyr) | |
19 | g.4816709C= | CA2319604989 | TICAM1 | c.1669G= (p.Asp557=) c.1252G= (p.Asp418=) c.1627G= (p.Asp543=) c.1534G= (p.Asp512=) c.1027G= (p.Asp343=) | |
19 | g.4816709C>G | CA403489088 | TICAM1 | c.1669G>C (p.Asp557His) c.1252G>C (p.Asp418His) c.1627G>C (p.Asp543His) c.1534G>C (p.Asp512His) c.1027G>C (p.Asp343His) | ClinVar |
19 | g.4816709C>T | CA9105086 | TICAM1 | c.1669G>A (p.Asp557Asn) c.1252G>A (p.Asp418Asn) c.1627G>A (p.Asp543Asn) c.1534G>A (p.Asp512Asn) c.1027G>A (p.Asp343Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816710C>A | CA505174090 | TICAM1 | c.1668G>T (p.Leu556=) c.1251G>T (p.Leu417=) c.1626G>T (p.Leu542=) c.1533G>T (p.Leu511=) c.1026G>T (p.Leu342=) | |
19 | g.4816710C>G | CA505174091 | TICAM1 | c.1668G>C (p.Leu556=) c.1251G>C (p.Leu417=) c.1626G>C (p.Leu542=) c.1533G>C (p.Leu511=) c.1026G>C (p.Leu342=) | |
19 | g.4816710C>T | CA505174092 | TICAM1 | c.1668G>A (p.Leu556=) c.1251G>A (p.Leu417=) c.1626G>A (p.Leu542=) c.1533G>A (p.Leu511=) c.1026G>A (p.Leu342=) | |
19 | g.4816711A>C | CA403489089 | TICAM1 | c.1667T>G (p.Leu556Arg) c.1250T>G (p.Leu417Arg) c.1625T>G (p.Leu542Arg) c.1532T>G (p.Leu511Arg) c.1025T>G (p.Leu342Arg) | |
19 | g.4816711A>G | CA403489090 | TICAM1 | c.1667T>C (p.Leu556Pro) c.1250T>C (p.Leu417Pro) c.1625T>C (p.Leu542Pro) c.1532T>C (p.Leu511Pro) c.1025T>C (p.Leu342Pro) | |
19 | g.4816711A>T | CA403489091 | TICAM1 | c.1667T>A (p.Leu556Gln) c.1250T>A (p.Leu417Gln) c.1625T>A (p.Leu542Gln) c.1532T>A (p.Leu511Gln) c.1025T>A (p.Leu342Gln) | |
19 | g.4816712G>A | CA505174094 | TICAM1 | c.1666C>T (p.Leu556=) c.1249C>T (p.Leu417=) c.1624C>T (p.Leu542=) c.1531C>T (p.Leu511=) c.1024C>T (p.Leu342=) | gnomAD v4 |
19 | g.4816712G>C | CA403489092 | TICAM1 | c.1666C>G (p.Leu556Val) c.1249C>G (p.Leu417Val) c.1624C>G (p.Leu542Val) c.1531C>G (p.Leu511Val) c.1024C>G (p.Leu342Val) | |
19 | g.4816712G= | CA2319604990 | TICAM1 | c.1666C= (p.Leu556=) c.1249C= (p.Leu417=) c.1624C= (p.Leu542=) c.1531C= (p.Leu511=) c.1024C= (p.Leu342=) | |
19 | g.4816712G>T | CA9105087 | TICAM1 | c.1666C>A (p.Leu556Met) c.1249C>A (p.Leu417Met) c.1624C>A (p.Leu542Met) c.1531C>A (p.Leu511Met) c.1024C>A (p.Leu342Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816713G>A | CA505174095 | TICAM1 | c.1665C>T (p.His555=) c.1248C>T (p.His416=) c.1623C>T (p.His541=) c.1530C>T (p.His510=) c.1023C>T (p.His341=) | |
19 | g.4816713G>C | CA9105088 | TICAM1 | c.1665C>G (p.His555Gln) c.1248C>G (p.His416Gln) c.1623C>G (p.His541Gln) c.1530C>G (p.His510Gln) c.1023C>G (p.His341Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816713G= | CA2319604991 | TICAM1 | c.1665C= (p.His555=) c.1248C= (p.His416=) c.1623C= (p.His541=) c.1530C= (p.His510=) c.1023C= (p.His341=) | |
19 | g.4816713G>T | CA403489093 | TICAM1 | c.1665C>A (p.His555Gln) c.1248C>A (p.His416Gln) c.1623C>A (p.His541Gln) c.1530C>A (p.His510Gln) c.1023C>A (p.His341Gln) | |
19 | g.4816714T>A | CA403489096 | TICAM1 | c.1664A>T (p.His555Leu) c.1247A>T (p.His416Leu) c.1622A>T (p.His541Leu) c.1529A>T (p.His510Leu) c.1022A>T (p.His341Leu) | |
19 | g.4816714T>C | CA403489095 | TICAM1 | c.1664A>G (p.His555Arg) c.1247A>G (p.His416Arg) c.1622A>G (p.His541Arg) c.1529A>G (p.His510Arg) c.1022A>G (p.His341Arg) | |
19 | g.4816714T>G | CA403489094 | TICAM1 | c.1664A>C (p.His555Pro) c.1247A>C (p.His416Pro) c.1622A>C (p.His541Pro) c.1529A>C (p.His510Pro) c.1022A>C (p.His341Pro) | |
19 | g.4816715G>A | CA403489097 | TICAM1 | c.1663C>T (p.His555Tyr) c.1246C>T (p.His416Tyr) c.1621C>T (p.His541Tyr) c.1528C>T (p.His510Tyr) c.1021C>T (p.His341Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816715G>C | CA403489098 | TICAM1 | c.1663C>G (p.His555Asp) c.1246C>G (p.His416Asp) c.1621C>G (p.His541Asp) c.1528C>G (p.His510Asp) c.1021C>G (p.His341Asp) | |
19 | g.4816715G= | CA2319604992 | TICAM1 | c.1663C= (p.His555=) c.1246C= (p.His416=) c.1621C= (p.His541=) c.1528C= (p.His510=) c.1021C= (p.His341=) | |
19 | g.4816715G>T | CA403489099 | TICAM1 | c.1663C>A (p.His555Asn) c.1246C>A (p.His416Asn) c.1621C>A (p.His541Asn) c.1528C>A (p.His510Asn) c.1021C>A (p.His341Asn) | |
19 | g.4816716T>A | CA403489100 | TICAM1 | c.1662A>T (p.Gln554His) c.1245A>T (p.Gln415His) c.1620A>T (p.Gln540His) c.1527A>T (p.Gln509His) c.1020A>T (p.Gln340His) | |
19 | g.4816716T>C | CA9105089 | TICAM1 | c.1662A>G (p.Gln554=) c.1245A>G (p.Gln415=) c.1620A>G (p.Gln540=) c.1527A>G (p.Gln509=) c.1020A>G (p.Gln340=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816716T>G | CA403489101 | TICAM1 | c.1662A>C (p.Gln554His) c.1245A>C (p.Gln415His) c.1620A>C (p.Gln540His) c.1527A>C (p.Gln509His) c.1020A>C (p.Gln340His) | |
19 | g.4816716T= | CA2319604993 | TICAM1 | c.1662A= (p.Gln554=) c.1245A= (p.Gln415=) c.1620A= (p.Gln540=) c.1527A= (p.Gln509=) c.1020A= (p.Gln340=) | |
19 | g.4816717T>A | CA403489102 | TICAM1 | c.1661A>T (p.Gln554Leu) c.1244A>T (p.Gln415Leu) c.1619A>T (p.Gln540Leu) c.1526A>T (p.Gln509Leu) c.1019A>T (p.Gln340Leu) | |
19 | g.4816717T>C | CA403489103 | TICAM1 | c.1661A>G (p.Gln554Arg) c.1244A>G (p.Gln415Arg) c.1619A>G (p.Gln540Arg) c.1526A>G (p.Gln509Arg) c.1019A>G (p.Gln340Arg) | |
19 | g.4816717T>G | CA403489104 | TICAM1 | c.1661A>C (p.Gln554Pro) c.1244A>C (p.Gln415Pro) c.1619A>C (p.Gln540Pro) c.1526A>C (p.Gln509Pro) c.1019A>C (p.Gln340Pro) | |
19 | g.4816718G>A | CA403489105 | TICAM1 | c.1660C>T (p.Gln554Ter) c.1243C>T (p.Gln415Ter) c.1618C>T (p.Gln540Ter) c.1525C>T (p.Gln509Ter) c.1018C>T (p.Gln340Ter) | dbSNP |
19 | g.4816718G>C | CA403489106 | TICAM1 | c.1660C>G (p.Gln554Glu) c.1243C>G (p.Gln415Glu) c.1618C>G (p.Gln540Glu) c.1525C>G (p.Gln509Glu) c.1018C>G (p.Gln340Glu) | |
19 | g.4816718G= | CA2319604994 | TICAM1 | c.1660C= (p.Gln554=) c.1243C= (p.Gln415=) c.1618C= (p.Gln540=) c.1525C= (p.Gln509=) c.1018C= (p.Gln340=) | |
19 | g.4816718G>T | CA403489107 | TICAM1 | c.1660C>A (p.Gln554Lys) c.1243C>A (p.Gln415Lys) c.1618C>A (p.Gln540Lys) c.1525C>A (p.Gln509Lys) c.1018C>A (p.Gln340Lys) | |
19 | g.4816719G>A | CA505174099 | TICAM1 | c.1659C>T (p.Ser553=) c.1242C>T (p.Ser414=) c.1617C>T (p.Ser539=) c.1524C>T (p.Ser508=) c.1017C>T (p.Ser339=) | |
19 | g.4816719G>C | CA403489109 | TICAM1 | c.1659C>G (p.Ser553Arg) c.1242C>G (p.Ser414Arg) c.1617C>G (p.Ser539Arg) c.1524C>G (p.Ser508Arg) c.1017C>G (p.Ser339Arg) | |
19 | g.4816719G>T | CA403489108 | TICAM1 | c.1659C>A (p.Ser553Arg) c.1242C>A (p.Ser414Arg) c.1617C>A (p.Ser539Arg) c.1524C>A (p.Ser508Arg) c.1017C>A (p.Ser339Arg) | |
19 | g.4816720C>A | CA403489110 | TICAM1 | c.1658G>T (p.Ser553Ile) c.1241G>T (p.Ser414Ile) c.1616G>T (p.Ser539Ile) c.1523G>T (p.Ser508Ile) c.1016G>T (p.Ser339Ile) | |
19 | g.4816720C>G | CA403489111 | TICAM1 | c.1658G>C (p.Ser553Thr) c.1241G>C (p.Ser414Thr) c.1616G>C (p.Ser539Thr) c.1523G>C (p.Ser508Thr) c.1016G>C (p.Ser339Thr) | gnomAD v4 |
19 | g.4816720C>T | CA403489112 | TICAM1 | c.1658G>A (p.Ser553Asn) c.1241G>A (p.Ser414Asn) c.1616G>A (p.Ser539Asn) c.1523G>A (p.Ser508Asn) c.1016G>A (p.Ser339Asn) | gnomAD v4 |
19 | g.4816721T>A | CA403489113 | TICAM1 | c.1657A>T (p.Ser553Cys) c.1240A>T (p.Ser414Cys) c.1615A>T (p.Ser539Cys) c.1522A>T (p.Ser508Cys) c.1015A>T (p.Ser339Cys) | |
19 | g.4816721T>C | CA403489114 | TICAM1 | c.1657A>G (p.Ser553Gly) c.1240A>G (p.Ser414Gly) c.1615A>G (p.Ser539Gly) c.1522A>G (p.Ser508Gly) c.1015A>G (p.Ser339Gly) | |
19 | g.4816721T>G | CA403489115 | TICAM1 | c.1657A>C (p.Ser553Arg) c.1240A>C (p.Ser414Arg) c.1615A>C (p.Ser539Arg) c.1522A>C (p.Ser508Arg) c.1015A>C (p.Ser339Arg) | |
19 | g.4816722C>A | CA403489116 | TICAM1 | c.1656G>T (p.Gln552His) c.1239G>T (p.Gln413His) c.1614G>T (p.Gln538His) c.1521G>T (p.Gln507His) c.1014G>T (p.Gln338His) | |
19 | g.4816722C= | CA2319604995 | TICAM1 | c.1656G= (p.Gln552=) c.1239G= (p.Gln413=) c.1614G= (p.Gln538=) c.1521G= (p.Gln507=) c.1014G= (p.Gln338=) | |
19 | g.4816722C>G | CA403489117 | TICAM1 | c.1656G>C (p.Gln552His) c.1239G>C (p.Gln413His) c.1614G>C (p.Gln538His) c.1521G>C (p.Gln507His) c.1014G>C (p.Gln338His) | |
19 | g.4816722C>T | CA505174102 | TICAM1 | c.1656G>A (p.Gln552=) c.1239G>A (p.Gln413=) c.1614G>A (p.Gln538=) c.1521G>A (p.Gln507=) c.1014G>A (p.Gln338=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816723T>A | CA403489118 | TICAM1 | c.1655A>T (p.Gln552Leu) c.1238A>T (p.Gln413Leu) c.1613A>T (p.Gln538Leu) c.1520A>T (p.Gln507Leu) c.1013A>T (p.Gln338Leu) | |
19 | g.4816723T>C | CA403489119 | TICAM1 | c.1655A>G (p.Gln552Arg) c.1238A>G (p.Gln413Arg) c.1613A>G (p.Gln538Arg) c.1520A>G (p.Gln507Arg) c.1013A>G (p.Gln338Arg) | |
19 | g.4816723T>G | CA403489120 | TICAM1 | c.1655A>C (p.Gln552Pro) c.1238A>C (p.Gln413Pro) c.1613A>C (p.Gln538Pro) c.1520A>C (p.Gln507Pro) c.1013A>C (p.Gln338Pro) | |
19 | g.4816724G>A | CA403489121 | TICAM1 | c.1654C>T (p.Gln552Ter) c.1237C>T (p.Gln413Ter) c.1612C>T (p.Gln538Ter) c.1519C>T (p.Gln507Ter) c.1012C>T (p.Gln338Ter) | |
19 | g.4816724G>C | CA403489122 | TICAM1 | c.1654C>G (p.Gln552Glu) c.1237C>G (p.Gln413Glu) c.1612C>G (p.Gln538Glu) c.1519C>G (p.Gln507Glu) c.1012C>G (p.Gln338Glu) | |
19 | g.4816724G>T | CA403489123 | TICAM1 | c.1654C>A (p.Gln552Lys) c.1237C>A (p.Gln413Lys) c.1612C>A (p.Gln538Lys) c.1519C>A (p.Gln507Lys) c.1012C>A (p.Gln338Lys) | dbSNP gnomAD v4 |
19 | g.4816725T>A | CA403489124 | TICAM1 | c.1653A>T (p.Glu551Asp) c.1236A>T (p.Glu412Asp) c.1611A>T (p.Glu537Asp) c.1518A>T (p.Glu506Asp) c.1011A>T (p.Glu337Asp) | |
19 | g.4816725T>C | CA505174103 | TICAM1 | c.1653A>G (p.Glu551=) c.1236A>G (p.Glu412=) c.1611A>G (p.Glu537=) c.1518A>G (p.Glu506=) c.1011A>G (p.Glu337=) | |
19 | g.4816725T>G | CA403489125 | TICAM1 | c.1653A>C (p.Glu551Asp) c.1236A>C (p.Glu412Asp) c.1611A>C (p.Glu537Asp) c.1518A>C (p.Glu506Asp) c.1011A>C (p.Glu337Asp) | |
19 | g.4816726T>A | CA403489126 | TICAM1 | c.1652A>T (p.Glu551Val) c.1235A>T (p.Glu412Val) c.1610A>T (p.Glu537Val) c.1517A>T (p.Glu506Val) c.1010A>T (p.Glu337Val) | |
19 | g.4816726T>C | CA403489127 | TICAM1 | c.1652A>G (p.Glu551Gly) c.1235A>G (p.Glu412Gly) c.1610A>G (p.Glu537Gly) c.1517A>G (p.Glu506Gly) c.1010A>G (p.Glu337Gly) | |
19 | g.4816726T>G | CA403489128 | TICAM1 | c.1652A>C (p.Glu551Ala) c.1235A>C (p.Glu412Ala) c.1610A>C (p.Glu537Ala) c.1517A>C (p.Glu506Ala) c.1010A>C (p.Glu337Ala) | |
19 | g.4816727C>A | CA403489129 | TICAM1 | c.1651G>T (p.Glu551Ter) c.1234G>T (p.Glu412Ter) c.1609G>T (p.Glu537Ter) c.1516G>T (p.Glu506Ter) c.1009G>T (p.Glu337Ter) | gnomAD v4 |
19 | g.4816727C>G | CA403489130 | TICAM1 | c.1651G>C (p.Glu551Gln) c.1234G>C (p.Glu412Gln) c.1609G>C (p.Glu537Gln) c.1516G>C (p.Glu506Gln) c.1009G>C (p.Glu337Gln) | gnomAD v4 |
19 | g.4816727C>T | CA403489131 | TICAM1 | c.1651G>A (p.Glu551Lys) c.1234G>A (p.Glu412Lys) c.1609G>A (p.Glu537Lys) c.1516G>A (p.Glu506Lys) c.1009G>A (p.Glu337Lys) | |
19 | g.4816728C>A | CA505174104 | TICAM1 | c.1650G>T (p.Arg550=) c.1233G>T (p.Arg411=) c.1608G>T (p.Arg536=) c.1515G>T (p.Arg505=) c.1008G>T (p.Arg336=) | |
19 | g.4816728C= | CA2319604996 | TICAM1 | c.1650G= (p.Arg550=) c.1233G= (p.Arg411=) c.1608G= (p.Arg536=) c.1515G= (p.Arg505=) c.1008G= (p.Arg336=) | |
19 | g.4816728C>G | CA505174105 | TICAM1 | c.1650G>C (p.Arg550=) c.1233G>C (p.Arg411=) c.1608G>C (p.Arg536=) c.1515G>C (p.Arg505=) c.1008G>C (p.Arg336=) | |
19 | g.4816728C>T | CA9105090 | TICAM1 | c.1650G>A (p.Arg550=) c.1233G>A (p.Arg411=) c.1608G>A (p.Arg536=) c.1515G>A (p.Arg505=) c.1008G>A (p.Arg336=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816729C>A | CA403489132 | TICAM1 | c.1649G>T (p.Arg550Leu) c.1232G>T (p.Arg411Leu) c.1607G>T (p.Arg536Leu) c.1514G>T (p.Arg505Leu) c.1007G>T (p.Arg336Leu) | |
19 | g.4816729C= | CA2319604997 | TICAM1 | c.1649G= (p.Arg550=) c.1232G= (p.Arg411=) c.1607G= (p.Arg536=) c.1514G= (p.Arg505=) c.1007G= (p.Arg336=) | |
19 | g.4816729C>G | CA403489133 | TICAM1 | c.1649G>C (p.Arg550Pro) c.1232G>C (p.Arg411Pro) c.1607G>C (p.Arg536Pro) c.1514G>C (p.Arg505Pro) c.1007G>C (p.Arg336Pro) | |
19 | g.4816729C>T | CA403489134 | TICAM1 | c.1649G>A (p.Arg550Gln) c.1232G>A (p.Arg411Gln) c.1607G>A (p.Arg536Gln) c.1514G>A (p.Arg505Gln) c.1007G>A (p.Arg336Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816730G>A | CA9105091 | TICAM1 | c.1648C>T (p.Arg550Trp) c.1231C>T (p.Arg411Trp) c.1606C>T (p.Arg536Trp) c.1513C>T (p.Arg505Trp) c.1006C>T (p.Arg336Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.4816730G>C | CA403489135 | TICAM1 | c.1648C>G (p.Arg550Gly) c.1231C>G (p.Arg411Gly) c.1606C>G (p.Arg536Gly) c.1513C>G (p.Arg505Gly) c.1006C>G (p.Arg336Gly) | |
19 | g.4816730G= | CA2319604998 | TICAM1 | c.1648C= (p.Arg550=) c.1231C= (p.Arg411=) c.1606C= (p.Arg536=) c.1513C= (p.Arg505=) c.1006C= (p.Arg336=) | |
19 | g.4816730G>T | CA9105092 | TICAM1 | c.1648C>A (p.Arg550=) c.1231C>A (p.Arg411=) c.1606C>A (p.Arg536=) c.1513C>A (p.Arg505=) c.1006C>A (p.Arg336=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816731C>A | CA505174107 | TICAM1 | c.1647G>T (p.Leu549=) c.1230G>T (p.Leu410=) c.1605G>T (p.Leu535=) c.1512G>T (p.Leu504=) c.1005G>T (p.Leu335=) | |
19 | g.4816731C= | CA2319604999 | TICAM1 | c.1647G= (p.Leu549=) c.1230G= (p.Leu410=) c.1605G= (p.Leu535=) c.1512G= (p.Leu504=) c.1005G= (p.Leu335=) | |
19 | g.4816731C>G | CA505174108 | TICAM1 | c.1647G>C (p.Leu549=) c.1230G>C (p.Leu410=) c.1605G>C (p.Leu535=) c.1512G>C (p.Leu504=) c.1005G>C (p.Leu335=) | |
19 | g.4816731C>T | CA505174110 | TICAM1 | c.1647G>A (p.Leu549=) c.1230G>A (p.Leu410=) c.1605G>A (p.Leu535=) c.1512G>A (p.Leu504=) c.1005G>A (p.Leu335=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816732A>C | CA403489137 | TICAM1 | c.1646T>G (p.Leu549Arg) c.1229T>G (p.Leu410Arg) c.1604T>G (p.Leu535Arg) c.1511T>G (p.Leu504Arg) c.1004T>G (p.Leu335Arg) | |
19 | g.4816732A>G | CA403489138 | TICAM1 | c.1646T>C (p.Leu549Pro) c.1229T>C (p.Leu410Pro) c.1604T>C (p.Leu535Pro) c.1511T>C (p.Leu504Pro) c.1004T>C (p.Leu335Pro) | |
19 | g.4816732A>T | CA403489136 | TICAM1 | c.1646T>A (p.Leu549Gln) c.1229T>A (p.Leu410Gln) c.1604T>A (p.Leu535Gln) c.1511T>A (p.Leu504Gln) c.1004T>A (p.Leu335Gln) | |
19 | g.4816733G>A | CA505174112 | TICAM1 | c.1645C>T (p.Leu549=) c.1228C>T (p.Leu410=) c.1603C>T (p.Leu535=) c.1510C>T (p.Leu504=) c.1003C>T (p.Leu335=) | |
19 | g.4816733G>C | CA403489140 | TICAM1 | c.1645C>G (p.Leu549Val) c.1228C>G (p.Leu410Val) c.1603C>G (p.Leu535Val) c.1510C>G (p.Leu504Val) c.1003C>G (p.Leu335Val) | |
19 | g.4816733G>T | CA403489139 | TICAM1 | c.1645C>A (p.Leu549Met) c.1228C>A (p.Leu410Met) c.1603C>A (p.Leu535Met) c.1510C>A (p.Leu504Met) c.1003C>A (p.Leu335Met) | |
19 | g.4816734G>A | CA505174113 | TICAM1 | c.1644C>T (p.Ala548=) c.1227C>T (p.Ala409=) c.1602C>T (p.Ala534=) c.1509C>T (p.Ala503=) c.1002C>T (p.Ala334=) | gnomAD v4 |
19 | g.4816734G>C | CA505174114 | TICAM1 | c.1644C>G (p.Ala548=) c.1227C>G (p.Ala409=) c.1602C>G (p.Ala534=) c.1509C>G (p.Ala503=) c.1002C>G (p.Ala334=) | |
19 | g.4816734G>T | CA505174115 | TICAM1 | c.1644C>A (p.Ala548=) c.1227C>A (p.Ala409=) c.1602C>A (p.Ala534=) c.1509C>A (p.Ala503=) c.1002C>A (p.Ala334=) | |
19 | g.4816735G>A | CA403489143 | TICAM1 | c.1643C>T (p.Ala548Val) c.1226C>T (p.Ala409Val) c.1601C>T (p.Ala534Val) c.1508C>T (p.Ala503Val) c.1001C>T (p.Ala334Val) | gnomAD v4 |
19 | g.4816735G>C | CA403489141 | TICAM1 | c.1643C>G (p.Ala548Gly) c.1226C>G (p.Ala409Gly) c.1601C>G (p.Ala534Gly) c.1508C>G (p.Ala503Gly) c.1001C>G (p.Ala334Gly) | |
19 | g.4816735G>T | CA403489142 | TICAM1 | c.1643C>A (p.Ala548Asp) c.1226C>A (p.Ala409Asp) c.1601C>A (p.Ala534Asp) c.1508C>A (p.Ala503Asp) c.1001C>A (p.Ala334Asp) | gnomAD v4 |
19 | g.4816736C>A | CA403489144 | TICAM1 | c.1642G>T (p.Ala548Ser) c.1225G>T (p.Ala409Ser) c.1600G>T (p.Ala534Ser) c.1507G>T (p.Ala503Ser) c.1000G>T (p.Ala334Ser) | |
19 | g.4816736C>G | CA403489145 | TICAM1 | c.1642G>C (p.Ala548Pro) c.1225G>C (p.Ala409Pro) c.1600G>C (p.Ala534Pro) c.1507G>C (p.Ala503Pro) c.1000G>C (p.Ala334Pro) | |
19 | g.4816736C>T | CA403489146 | TICAM1 | c.1642G>A (p.Ala548Thr) c.1225G>A (p.Ala409Thr) c.1600G>A (p.Ala534Thr) c.1507G>A (p.Ala503Thr) c.1000G>A (p.Ala334Thr) | |
19 | g.4816737T>A | CA505174117 | TICAM1 | c.1641A>T (p.Arg547=) c.1224A>T (p.Arg408=) c.1599A>T (p.Arg533=) c.1506A>T (p.Arg502=) c.999A>T (p.Arg333=) | |
19 | g.4816737T>C | CA505174118 | TICAM1 | c.1641A>G (p.Arg547=) c.1224A>G (p.Arg408=) c.1599A>G (p.Arg533=) c.1506A>G (p.Arg502=) c.999A>G (p.Arg333=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816737T>G | CA505174120 | TICAM1 | c.1641A>C (p.Arg547=) c.1224A>C (p.Arg408=) c.1599A>C (p.Arg533=) c.1506A>C (p.Arg502=) c.999A>C (p.Arg333=) | |
19 | g.4816737T= | CA2319605000 | TICAM1 | c.1641A= (p.Arg547=) c.1224A= (p.Arg408=) c.1599A= (p.Arg533=) c.1506A= (p.Arg502=) c.999A= (p.Arg333=) | |
19 | g.4816738C>A | CA403489147 | TICAM1 | c.1640G>T (p.Arg547Leu) c.1223G>T (p.Arg408Leu) c.1598G>T (p.Arg533Leu) c.1505G>T (p.Arg502Leu) c.998G>T (p.Arg333Leu) | |
19 | g.4816738C= | CA2319605001 | TICAM1 | c.1640G= (p.Arg547=) c.1223G= (p.Arg408=) c.1598G= (p.Arg533=) c.1505G= (p.Arg502=) c.998G= (p.Arg333=) | |
19 | g.4816738C>G | CA9105094 | TICAM1 | c.1640G>C (p.Arg547Pro) c.1223G>C (p.Arg408Pro) c.1598G>C (p.Arg533Pro) c.1505G>C (p.Arg502Pro) c.998G>C (p.Arg333Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816738C>T | CA9105093 | TICAM1 | c.1640G>A (p.Arg547Gln) c.1223G>A (p.Arg408Gln) c.1598G>A (p.Arg533Gln) c.1505G>A (p.Arg502Gln) c.998G>A (p.Arg333Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816739G>A | CA403489148 | TICAM1 | c.1639C>T (p.Arg547Ter) c.1222C>T (p.Arg408Ter) c.1597C>T (p.Arg533Ter) c.1504C>T (p.Arg502Ter) c.997C>T (p.Arg333Ter) | dbSNP gnomAD v2 |
19 | g.4816739G>C | CA304547239 | TICAM1 | c.1639C>G (p.Arg547Gly) c.1222C>G (p.Arg408Gly) c.1597C>G (p.Arg533Gly) c.1504C>G (p.Arg502Gly) c.997C>G (p.Arg333Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816739G= | CA2319605002 | TICAM1 | c.1639C= (p.Arg547=) c.1222C= (p.Arg408=) c.1597C= (p.Arg533=) c.1504C= (p.Arg502=) c.997C= (p.Arg333=) | |
19 | g.4816739G>T | CA505174121 | TICAM1 | c.1639C>A (p.Arg547=) c.1222C>A (p.Arg408=) c.1597C>A (p.Arg533=) c.1504C>A (p.Arg502=) c.997C>A (p.Arg333=) | gnomAD v4 |
19 | g.4816740G>A | CA505174122 | TICAM1 | c.1638C>T (p.Thr546=) c.1221C>T (p.Thr407=) c.1596C>T (p.Thr532=) c.1503C>T (p.Thr501=) c.996C>T (p.Thr332=) | |
19 | g.4816740G>C | CA505174124 | TICAM1 | c.1638C>G (p.Thr546=) c.1221C>G (p.Thr407=) c.1596C>G (p.Thr532=) c.1503C>G (p.Thr501=) c.996C>G (p.Thr332=) | |
19 | g.4816740G>T | CA505174123 | TICAM1 | c.1638C>A (p.Thr546=) c.1221C>A (p.Thr407=) c.1596C>A (p.Thr532=) c.1503C>A (p.Thr501=) c.996C>A (p.Thr332=) | |
19 | g.4816741G>A | CA403489149 | TICAM1 | c.1637C>T (p.Thr546Ile) c.1220C>T (p.Thr407Ile) c.1595C>T (p.Thr532Ile) c.1502C>T (p.Thr501Ile) c.995C>T (p.Thr332Ile) | |
19 | g.4816741G>C | CA403489150 | TICAM1 | c.1637C>G (p.Thr546Ser) c.1220C>G (p.Thr407Ser) c.1595C>G (p.Thr532Ser) c.1502C>G (p.Thr501Ser) c.995C>G (p.Thr332Ser) | |
19 | g.4816741G= | CA2319605003 | TICAM1 | c.1637C= (p.Thr546=) c.1220C= (p.Thr407=) c.1595C= (p.Thr532=) c.1502C= (p.Thr501=) c.995C= (p.Thr332=) | |
19 | g.4816741G>T | CA9105095 | TICAM1 | c.1637C>A (p.Thr546Asn) c.1220C>A (p.Thr407Asn) c.1595C>A (p.Thr532Asn) c.1502C>A (p.Thr501Asn) c.995C>A (p.Thr332Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816742T>A | CA403489153 | TICAM1 | c.1636A>T (p.Thr546Ser) c.1219A>T (p.Thr407Ser) c.1594A>T (p.Thr532Ser) c.1501A>T (p.Thr501Ser) c.994A>T (p.Thr332Ser) | |
19 | g.4816742T>C | CA403489152 | TICAM1 | c.1636A>G (p.Thr546Ala) c.1219A>G (p.Thr407Ala) c.1594A>G (p.Thr532Ala) c.1501A>G (p.Thr501Ala) c.994A>G (p.Thr332Ala) | |
19 | g.4816742T>G | CA403489151 | TICAM1 | c.1636A>C (p.Thr546Pro) c.1219A>C (p.Thr407Pro) c.1594A>C (p.Thr532Pro) c.1501A>C (p.Thr501Pro) c.994A>C (p.Thr332Pro) | dbSNP |
19 | g.4816742T= | CA2319605004 | TICAM1 | c.1636A= (p.Thr546=) c.1219A= (p.Thr407=) c.1594A= (p.Thr532=) c.1501A= (p.Thr501=) c.994A= (p.Thr332=) | |
19 | g.4816743G>A | CA505174126 | TICAM1 | c.1635C>T (p.Asp545=) c.1218C>T (p.Asp406=) c.1593C>T (p.Asp531=) c.1500C>T (p.Asp500=) c.993C>T (p.Asp331=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816743G>C | CA403489154 | TICAM1 | c.1635C>G (p.Asp545Glu) c.1218C>G (p.Asp406Glu) c.1593C>G (p.Asp531Glu) c.1500C>G (p.Asp500Glu) c.993C>G (p.Asp331Glu) | |
19 | g.4816743G= | CA2319605005 | TICAM1 | c.1635C= (p.Asp545=) c.1218C= (p.Asp406=) c.1593C= (p.Asp531=) c.1500C= (p.Asp500=) c.993C= (p.Asp331=) | |
19 | g.4816743G>T | CA403489155 | TICAM1 | c.1635C>A (p.Asp545Glu) c.1218C>A (p.Asp406Glu) c.1593C>A (p.Asp531Glu) c.1500C>A (p.Asp500Glu) c.993C>A (p.Asp331Glu) | |
19 | g.4816744T>A | CA403489156 | TICAM1 | c.1634A>T (p.Asp545Val) c.1217A>T (p.Asp406Val) c.1592A>T (p.Asp531Val) c.1499A>T (p.Asp500Val) c.992A>T (p.Asp331Val) | |
19 | g.4816744T>C | CA403489157 | TICAM1 | c.1634A>G (p.Asp545Gly) c.1217A>G (p.Asp406Gly) c.1592A>G (p.Asp531Gly) c.1499A>G (p.Asp500Gly) c.992A>G (p.Asp331Gly) | COSMIC |
19 | g.4816744T>G | CA403489158 | TICAM1 | c.1634A>C (p.Asp545Ala) c.1217A>C (p.Asp406Ala) c.1592A>C (p.Asp531Ala) c.1499A>C (p.Asp500Ala) c.992A>C (p.Asp331Ala) | |
19 | g.4816745C>A | CA403489159 | TICAM1 | c.1633G>T (p.Asp545Tyr) c.1216G>T (p.Asp406Tyr) c.1591G>T (p.Asp531Tyr) c.1498G>T (p.Asp500Tyr) c.991G>T (p.Asp331Tyr) | |
19 | g.4816745C>G | CA403489160 | TICAM1 | c.1633G>C (p.Asp545His) c.1216G>C (p.Asp406His) c.1591G>C (p.Asp531His) c.1498G>C (p.Asp500His) c.991G>C (p.Asp331His) | |
19 | g.4816745C>T | CA403489161 | TICAM1 | c.1633G>A (p.Asp545Asn) c.1216G>A (p.Asp406Asn) c.1591G>A (p.Asp531Asn) c.1498G>A (p.Asp500Asn) c.991G>A (p.Asp331Asn) | gnomAD v4 |
19 | g.4816746C>A | CA403489162 | TICAM1 | c.1632G>T (p.Gln544His) c.1215G>T (p.Gln405His) c.1590G>T (p.Gln530His) c.1497G>T (p.Gln499His) c.990G>T (p.Gln330His) | |
19 | g.4816746C= | CA2319605006 | TICAM1 | c.1632G= (p.Gln544=) c.1215G= (p.Gln405=) c.1590G= (p.Gln530=) c.1497G= (p.Gln499=) c.990G= (p.Gln330=) | |
19 | g.4816746C>G | CA403489163 | TICAM1 | c.1632G>C (p.Gln544His) c.1215G>C (p.Gln405His) c.1590G>C (p.Gln530His) c.1497G>C (p.Gln499His) c.990G>C (p.Gln330His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816746C>T | CA505174128 | TICAM1 | c.1632G>A (p.Gln544=) c.1215G>A (p.Gln405=) c.1590G>A (p.Gln530=) c.1497G>A (p.Gln499=) c.990G>A (p.Gln330=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816747T>A | CA403489164 | TICAM1 | c.1631A>T (p.Gln544Leu) c.1214A>T (p.Gln405Leu) c.1589A>T (p.Gln530Leu) c.1496A>T (p.Gln499Leu) c.989A>T (p.Gln330Leu) | |
19 | g.4816747T>C | CA403489165 | TICAM1 | c.1631A>G (p.Gln544Arg) c.1214A>G (p.Gln405Arg) c.1589A>G (p.Gln530Arg) c.1496A>G (p.Gln499Arg) c.989A>G (p.Gln330Arg) | gnomAD v4 |
19 | g.4816747T>G | CA403489166 | TICAM1 | c.1631A>C (p.Gln544Pro) c.1214A>C (p.Gln405Pro) c.1589A>C (p.Gln530Pro) c.1496A>C (p.Gln499Pro) c.989A>C (p.Gln330Pro) | |
19 | g.4816748_4816750dup | CA631717165 | TICAM1 | c.1629_1631dup (p.Gln544_Asp545insGln) c.1212_1214dup (p.Gln405_Asp406insGln) c.1587_1589dup (p.Gln530_Asp531insGln) c.1494_1496dup (p.Gln499_Asp500insGln) c.987_989dup (p.Gln330_Asp331insGln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816748G>A | CA403489168 | TICAM1 | c.1630C>T (p.Gln544Ter) c.1213C>T (p.Gln405Ter) c.1588C>T (p.Gln530Ter) c.1495C>T (p.Gln499Ter) c.988C>T (p.Gln330Ter) | dbSNP gnomAD v4 |
19 | g.4816748G>C | CA403489169 | TICAM1 | c.1630C>G (p.Gln544Glu) c.1213C>G (p.Gln405Glu) c.1588C>G (p.Gln530Glu) c.1495C>G (p.Gln499Glu) c.988C>G (p.Gln330Glu) | dbSNP |
19 | g.4816748G= | CA2319605007 | TICAM1 | c.1630C= (p.Gln544=) c.1213C= (p.Gln405=) c.1588C= (p.Gln530=) c.1495C= (p.Gln499=) c.988C= (p.Gln330=) | |
19 | g.4816748G>T | CA403489167 | TICAM1 | c.1630C>A (p.Gln544Lys) c.1213C>A (p.Gln405Lys) c.1588C>A (p.Gln530Lys) c.1495C>A (p.Gln499Lys) c.988C>A (p.Gln330Lys) | |
19 | g.4816749T>A | CA403489170 | TICAM1 | c.1629A>T (p.Glu543Asp) c.1212A>T (p.Glu404Asp) c.1587A>T (p.Glu529Asp) c.1494A>T (p.Glu498Asp) c.987A>T (p.Glu329Asp) | |
19 | g.4816749T>C | CA505174131 | TICAM1 | c.1629A>G (p.Glu543=) c.1212A>G (p.Glu404=) c.1587A>G (p.Glu529=) c.1494A>G (p.Glu498=) c.987A>G (p.Glu329=) | dbSNP gnomAD v4 |
19 | g.4816749T>G | CA403489171 | TICAM1 | c.1629A>C (p.Glu543Asp) c.1212A>C (p.Glu404Asp) c.1587A>C (p.Glu529Asp) c.1494A>C (p.Glu498Asp) c.987A>C (p.Glu329Asp) | |
19 | g.4816749T= | CA2319605008 | TICAM1 | c.1629A= (p.Glu543=) c.1212A= (p.Glu404=) c.1587A= (p.Glu529=) c.1494A= (p.Glu498=) c.987A= (p.Glu329=) | |
19 | g.4816754_4816757del | CA2586031835 | TICAM1 | c.1626_1629del (p.Lys542AsnfsTer24) c.1209_1212del (p.Lys403AsnfsTer24) c.1584_1587del (p.Lys528AsnfsTer24) c.1491_1494del (p.Lys497AsnfsTer24) c.984_987del (p.Lys328AsnfsTer24) | gnomAD v4 |
19 | g.4816750T>A | CA9105096 | TICAM1 | c.1628A>T (p.Glu543Val) c.1211A>T (p.Glu404Val) c.1586A>T (p.Glu529Val) c.1493A>T (p.Glu498Val) c.986A>T (p.Glu329Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816750T>C | CA403489172 | TICAM1 | c.1628A>G (p.Glu543Gly) c.1211A>G (p.Glu404Gly) c.1586A>G (p.Glu529Gly) c.1493A>G (p.Glu498Gly) c.986A>G (p.Glu329Gly) | gnomAD v4 |
19 | g.4816750T>G | CA403489173 | TICAM1 | c.1628A>C (p.Glu543Ala) c.1211A>C (p.Glu404Ala) c.1586A>C (p.Glu529Ala) c.1493A>C (p.Glu498Ala) c.986A>C (p.Glu329Ala) | |
19 | g.4816750T= | CA2319605009 | TICAM1 | c.1628A= (p.Glu543=) c.1211A= (p.Glu404=) c.1586A= (p.Glu529=) c.1493A= (p.Glu498=) c.986A= (p.Glu329=) | |
19 | g.4816751C>A | CA403489174 | TICAM1 | c.1627G>T (p.Glu543Ter) c.1210G>T (p.Glu404Ter) c.1585G>T (p.Glu529Ter) c.1492G>T (p.Glu498Ter) c.985G>T (p.Glu329Ter) | |
19 | g.4816751C>G | CA403489175 | TICAM1 | c.1627G>C (p.Glu543Gln) c.1210G>C (p.Glu404Gln) c.1585G>C (p.Glu529Gln) c.1492G>C (p.Glu498Gln) c.985G>C (p.Glu329Gln) | |
19 | g.4816751C>T | CA403489176 | TICAM1 | c.1627G>A (p.Glu543Lys) c.1210G>A (p.Glu404Lys) c.1585G>A (p.Glu529Lys) c.1492G>A (p.Glu498Lys) c.985G>A (p.Glu329Lys) | |
19 | g.4816752C>A | CA403489177 | TICAM1 | c.1626G>T (p.Lys542Asn) c.1209G>T (p.Lys403Asn) c.1584G>T (p.Lys528Asn) c.1491G>T (p.Lys497Asn) c.984G>T (p.Lys328Asn) | |
19 | g.4816752C>G | CA403489178 | TICAM1 | c.1626G>C (p.Lys542Asn) c.1209G>C (p.Lys403Asn) c.1584G>C (p.Lys528Asn) c.1491G>C (p.Lys497Asn) c.984G>C (p.Lys328Asn) | |
19 | g.4816752C>T | CA505174135 | TICAM1 | c.1626G>A (p.Lys542=) c.1209G>A (p.Lys403=) c.1584G>A (p.Lys528=) c.1491G>A (p.Lys497=) c.984G>A (p.Lys328=) | |
19 | g.4816753T>A | CA403489179 | TICAM1 | c.1625A>T (p.Lys542Met) c.1208A>T (p.Lys403Met) c.1583A>T (p.Lys528Met) c.1490A>T (p.Lys497Met) c.983A>T (p.Lys328Met) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816753T>C | CA403489180 | TICAM1 | c.1625A>G (p.Lys542Arg) c.1208A>G (p.Lys403Arg) c.1583A>G (p.Lys528Arg) c.1490A>G (p.Lys497Arg) c.983A>G (p.Lys328Arg) | gnomAD v4 |
19 | g.4816753T>G | CA403489181 | TICAM1 | c.1625A>C (p.Lys542Thr) c.1208A>C (p.Lys403Thr) c.1583A>C (p.Lys528Thr) c.1490A>C (p.Lys497Thr) c.983A>C (p.Lys328Thr) | |
19 | g.4816753T= | CA2319605010 | TICAM1 | c.1625A= (p.Lys542=) c.1208A= (p.Lys403=) c.1583A= (p.Lys528=) c.1490A= (p.Lys497=) c.983A= (p.Lys328=) | |
19 | g.4816754del | CA2838556967 | TICAM1 | c.1625del (p.Lys542ArgfsTer25) c.1208del (p.Lys403ArgfsTer25) c.1583del (p.Lys528ArgfsTer25) c.1490del (p.Lys497ArgfsTer25) c.983del (p.Lys328ArgfsTer25) | |
19 | g.4816754T>A | CA403489182 | TICAM1 | c.1624A>T (p.Lys542Ter) c.1207A>T (p.Lys403Ter) c.1582A>T (p.Lys528Ter) c.1489A>T (p.Lys497Ter) c.982A>T (p.Lys328Ter) | |
19 | g.4816754T>C | CA403489184 | TICAM1 | c.1624A>G (p.Lys542Glu) c.1207A>G (p.Lys403Glu) c.1582A>G (p.Lys528Glu) c.1489A>G (p.Lys497Glu) c.982A>G (p.Lys328Glu) | |
19 | g.4816754T>G | CA403489183 | TICAM1 | c.1624A>C (p.Lys542Gln) c.1207A>C (p.Lys403Gln) c.1582A>C (p.Lys528Gln) c.1489A>C (p.Lys497Gln) c.982A>C (p.Lys328Gln) | |
19 | g.4816755C>A | CA403489185 | TICAM1 | c.1623G>T (p.Arg541Ser) c.1206G>T (p.Arg402Ser) c.1581G>T (p.Arg527Ser) c.1488G>T (p.Arg496Ser) c.981G>T (p.Arg327Ser) | |
19 | g.4816755C>G | CA403489186 | TICAM1 | c.1623G>C (p.Arg541Ser) c.1206G>C (p.Arg402Ser) c.1581G>C (p.Arg527Ser) c.1488G>C (p.Arg496Ser) c.981G>C (p.Arg327Ser) | |
19 | g.4816755C>T | CA505174136 | TICAM1 | c.1623G>A (p.Arg541=) c.1206G>A (p.Arg402=) c.1581G>A (p.Arg527=) c.1488G>A (p.Arg496=) c.981G>A (p.Arg327=) | |
19 | g.4816756C>A | CA403489187 | TICAM1 | c.1622G>T (p.Arg541Met) c.1205G>T (p.Arg402Met) c.1580G>T (p.Arg527Met) c.1487G>T (p.Arg496Met) c.980G>T (p.Arg327Met) | gnomAD v4 |
19 | g.4816756C>G | CA403489188 | TICAM1 | c.1622G>C (p.Arg541Thr) c.1205G>C (p.Arg402Thr) c.1580G>C (p.Arg527Thr) c.1487G>C (p.Arg496Thr) c.980G>C (p.Arg327Thr) | |
19 | g.4816756C>T | CA403489189 | TICAM1 | c.1622G>A (p.Arg541Lys) c.1205G>A (p.Arg402Lys) c.1580G>A (p.Arg527Lys) c.1487G>A (p.Arg496Lys) c.980G>A (p.Arg327Lys) | gnomAD v4 |
19 | g.4816757T>A | CA403489190 | TICAM1 | c.1621A>T (p.Arg541Trp) c.1204A>T (p.Arg402Trp) c.1579A>T (p.Arg527Trp) c.1486A>T (p.Arg496Trp) c.979A>T (p.Arg327Trp) | gnomAD v4 |
19 | g.4816757T>C | CA403489191 | TICAM1 | c.1621A>G (p.Arg541Gly) c.1204A>G (p.Arg402Gly) c.1579A>G (p.Arg527Gly) c.1486A>G (p.Arg496Gly) c.979A>G (p.Arg327Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816757T>G | CA505174139 | TICAM1 | c.1621A>C (p.Arg541=) c.1204A>C (p.Arg402=) c.1579A>C (p.Arg527=) c.1486A>C (p.Arg496=) c.979A>C (p.Arg327=) | |
19 | g.4816757T= | CA2319605011 | TICAM1 | c.1621A= (p.Arg541=) c.1204A= (p.Arg402=) c.1579A= (p.Arg527=) c.1486A= (p.Arg496=) c.979A= (p.Arg327=) | |
19 | g.4816758C>A | CA403489192 | TICAM1 | c.1620G>T (p.Trp540Cys) c.1203G>T (p.Trp401Cys) c.1578G>T (p.Trp526Cys) c.1485G>T (p.Trp495Cys) c.978G>T (p.Trp326Cys) | |
19 | g.4816758C>G | CA403489193 | TICAM1 | c.1620G>C (p.Trp540Cys) c.1203G>C (p.Trp401Cys) c.1578G>C (p.Trp526Cys) c.1485G>C (p.Trp495Cys) c.978G>C (p.Trp326Cys) | |
19 | g.4816758C>T | CA403489194 | TICAM1 | c.1620G>A (p.Trp540Ter) c.1203G>A (p.Trp401Ter) c.1578G>A (p.Trp526Ter) c.1485G>A (p.Trp495Ter) c.978G>A (p.Trp326Ter) | |
19 | g.4816759C>A | CA403489196 | TICAM1 | c.1619G>T (p.Trp540Leu) c.1202G>T (p.Trp401Leu) c.1577G>T (p.Trp526Leu) c.1484G>T (p.Trp495Leu) c.977G>T (p.Trp326Leu) | |
19 | g.4816759C>G | CA403489197 | TICAM1 | c.1619G>C (p.Trp540Ser) c.1202G>C (p.Trp401Ser) c.1577G>C (p.Trp526Ser) c.1484G>C (p.Trp495Ser) c.977G>C (p.Trp326Ser) | |
19 | g.4816759C>T | CA403489195 | TICAM1 | c.1619G>A (p.Trp540Ter) c.1202G>A (p.Trp401Ter) c.1577G>A (p.Trp526Ter) c.1484G>A (p.Trp495Ter) c.977G>A (p.Trp326Ter) | |
19 | g.4816760A>C | CA403489200 | TICAM1 | c.1618T>G (p.Trp540Gly) c.1201T>G (p.Trp401Gly) c.1576T>G (p.Trp526Gly) c.1483T>G (p.Trp495Gly) c.976T>G (p.Trp326Gly) | |
19 | g.4816760A>G | CA403489198 | TICAM1 | c.1618T>C (p.Trp540Arg) c.1201T>C (p.Trp401Arg) c.1576T>C (p.Trp526Arg) c.1483T>C (p.Trp495Arg) c.976T>C (p.Trp326Arg) | |
19 | g.4816760A>T | CA403489199 | TICAM1 | c.1618T>A (p.Trp540Arg) c.1201T>A (p.Trp401Arg) c.1576T>A (p.Trp526Arg) c.1483T>A (p.Trp495Arg) c.976T>A (p.Trp326Arg) | |
19 | g.4816761C>A | CA9105097 | TICAM1 | c.1617G>T (p.Met539Ile) c.1200G>T (p.Met400Ile) c.1575G>T (p.Met525Ile) c.1482G>T (p.Met494Ile) c.975G>T (p.Met325Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816761C= | CA2319605012 | TICAM1 | c.1617G= (p.Met539=) c.1200G= (p.Met400=) c.1575G= (p.Met525=) c.1482G= (p.Met494=) c.975G= (p.Met325=) | |
19 | g.4816761C>G | CA403489201 | TICAM1 | c.1617G>C (p.Met539Ile) c.1200G>C (p.Met400Ile) c.1575G>C (p.Met525Ile) c.1482G>C (p.Met494Ile) c.975G>C (p.Met325Ile) | |
19 | g.4816761C>T | CA403489202 | TICAM1 | c.1617G>A (p.Met539Ile) c.1200G>A (p.Met400Ile) c.1575G>A (p.Met525Ile) c.1482G>A (p.Met494Ile) c.975G>A (p.Met325Ile) | gnomAD v4 |
19 | g.4816762A= | CA2319605013 | TICAM1 | c.1616T= (p.Met539=) c.1199T= (p.Met400=) c.1574T= (p.Met525=) c.1481T= (p.Met494=) c.974T= (p.Met325=) | |
19 | g.4816762A>C | CA403489204 | TICAM1 | c.1616T>G (p.Met539Arg) c.1199T>G (p.Met400Arg) c.1574T>G (p.Met525Arg) c.1481T>G (p.Met494Arg) c.974T>G (p.Met325Arg) | |
19 | g.4816762A>G | CA304547251 | TICAM1 | c.1616T>C (p.Met539Thr) c.1199T>C (p.Met400Thr) c.1574T>C (p.Met525Thr) c.1481T>C (p.Met494Thr) c.974T>C (p.Met325Thr) | ClinVar dbSNP gnomAD v2 |
19 | g.4816762A>T | CA403489203 | TICAM1 | c.1616T>A (p.Met539Lys) c.1199T>A (p.Met400Lys) c.1574T>A (p.Met525Lys) c.1481T>A (p.Met494Lys) c.974T>A (p.Met325Lys) | |
19 | g.4816763T>A | CA403489205 | TICAM1 | c.1615A>T (p.Met539Leu) c.1198A>T (p.Met400Leu) c.1573A>T (p.Met525Leu) c.1480A>T (p.Met494Leu) c.973A>T (p.Met325Leu) | |
19 | g.4816763T>C | CA9105098 | TICAM1 | c.1615A>G (p.Met539Val) c.1198A>G (p.Met400Val) c.1573A>G (p.Met525Val) c.1480A>G (p.Met494Val) c.973A>G (p.Met325Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816763T>G | CA403489206 | TICAM1 | c.1615A>C (p.Met539Leu) c.1198A>C (p.Met400Leu) c.1573A>C (p.Met525Leu) c.1480A>C (p.Met494Leu) c.973A>C (p.Met325Leu) | gnomAD v4 |
19 | g.4816763T= | CA2319605014 | TICAM1 | c.1615A= (p.Met539=) c.1198A= (p.Met400=) c.1573A= (p.Met525=) c.1480A= (p.Met494=) c.973A= (p.Met325=) | |
19 | g.4816764G>A | CA505174143 | TICAM1 | c.1614C>T (p.Ala538=) c.1197C>T (p.Ala399=) c.1572C>T (p.Ala524=) c.1479C>T (p.Ala493=) c.972C>T (p.Ala324=) | |
19 | g.4816764G>C | CA505174144 | TICAM1 | c.1614C>G (p.Ala538=) c.1197C>G (p.Ala399=) c.1572C>G (p.Ala524=) c.1479C>G (p.Ala493=) c.972C>G (p.Ala324=) | |
19 | g.4816764G>T | CA505174145 | TICAM1 | c.1614C>A (p.Ala538=) c.1197C>A (p.Ala399=) c.1572C>A (p.Ala524=) c.1479C>A (p.Ala493=) c.972C>A (p.Ala324=) | gnomAD v4 |
19 | g.4816765G>A | CA403489207 | TICAM1 | c.1613C>T (p.Ala538Val) c.1196C>T (p.Ala399Val) c.1571C>T (p.Ala524Val) c.1478C>T (p.Ala493Val) c.971C>T (p.Ala324Val) | |
19 | g.4816765G>C | CA403489208 | TICAM1 | c.1613C>G (p.Ala538Gly) c.1196C>G (p.Ala399Gly) c.1571C>G (p.Ala524Gly) c.1478C>G (p.Ala493Gly) c.971C>G (p.Ala324Gly) | |
19 | g.4816765G>T | CA403489209 | TICAM1 | c.1613C>A (p.Ala538Asp) c.1196C>A (p.Ala399Asp) c.1571C>A (p.Ala524Asp) c.1478C>A (p.Ala493Asp) c.971C>A (p.Ala324Asp) | |
19 | g.4816766C>A | CA403489210 | TICAM1 | c.1612G>T (p.Ala538Ser) c.1195G>T (p.Ala399Ser) c.1570G>T (p.Ala524Ser) c.1477G>T (p.Ala493Ser) c.970G>T (p.Ala324Ser) | gnomAD v4 |
19 | g.4816766C>G | CA403489212 | TICAM1 | c.1612G>C (p.Ala538Pro) c.1195G>C (p.Ala399Pro) c.1570G>C (p.Ala524Pro) c.1477G>C (p.Ala493Pro) c.970G>C (p.Ala324Pro) | |
19 | g.4816766C>T | CA403489211 | TICAM1 | c.1612G>A (p.Ala538Thr) c.1195G>A (p.Ala399Thr) c.1570G>A (p.Ala524Thr) c.1477G>A (p.Ala493Thr) c.970G>A (p.Ala324Thr) | |
19 | g.4816767C>A | CA403489213 | TICAM1 | c.1611G>T (p.Lys537Asn) c.1194G>T (p.Lys398Asn) c.1569G>T (p.Lys523Asn) c.1476G>T (p.Lys492Asn) c.969G>T (p.Lys323Asn) | |
19 | g.4816767C>G | CA403489214 | TICAM1 | c.1611G>C (p.Lys537Asn) c.1194G>C (p.Lys398Asn) c.1569G>C (p.Lys523Asn) c.1476G>C (p.Lys492Asn) c.969G>C (p.Lys323Asn) | |
19 | g.4816767C>T | CA505174149 | TICAM1 | c.1611G>A (p.Lys537=) c.1194G>A (p.Lys398=) c.1569G>A (p.Lys523=) c.1476G>A (p.Lys492=) c.969G>A (p.Lys323=) | |
19 | g.4816768T>A | CA403489215 | TICAM1 | c.1610A>T (p.Lys537Met) c.1193A>T (p.Lys398Met) c.1568A>T (p.Lys523Met) c.1475A>T (p.Lys492Met) c.968A>T (p.Lys323Met) | |
19 | g.4816768T>C | CA403489216 | TICAM1 | c.1610A>G (p.Lys537Arg) c.1193A>G (p.Lys398Arg) c.1568A>G (p.Lys523Arg) c.1475A>G (p.Lys492Arg) c.968A>G (p.Lys323Arg) | |
19 | g.4816768T>G | CA403489217 | TICAM1 | c.1610A>C (p.Lys537Thr) c.1193A>C (p.Lys398Thr) c.1568A>C (p.Lys523Thr) c.1475A>C (p.Lys492Thr) c.968A>C (p.Lys323Thr) | gnomAD v4 |
19 | g.4816769T>A | CA403489218 | TICAM1 | c.1609A>T (p.Lys537Ter) c.1192A>T (p.Lys398Ter) c.1567A>T (p.Lys523Ter) c.1474A>T (p.Lys492Ter) c.967A>T (p.Lys323Ter) | |
19 | g.4816769T>C | CA403489219 | TICAM1 | c.1609A>G (p.Lys537Glu) c.1192A>G (p.Lys398Glu) c.1567A>G (p.Lys523Glu) c.1474A>G (p.Lys492Glu) c.967A>G (p.Lys323Glu) | |
19 | g.4816769T>G | CA403489220 | TICAM1 | c.1609A>C (p.Lys537Gln) c.1192A>C (p.Lys398Gln) c.1567A>C (p.Lys523Gln) c.1474A>C (p.Lys492Gln) c.967A>C (p.Lys323Gln) | |
19 | g.4816770T>A | CA505174151 | TICAM1 | c.1608A>T (p.Arg536=) c.1191A>T (p.Arg397=) c.1566A>T (p.Arg522=) c.1473A>T (p.Arg491=) c.966A>T (p.Arg322=) | |
19 | g.4816770T>C | CA505174152 | TICAM1 | c.1608A>G (p.Arg536=) c.1191A>G (p.Arg397=) c.1566A>G (p.Arg522=) c.1473A>G (p.Arg491=) c.966A>G (p.Arg322=) | |
19 | g.4816770T>G | CA505174150 | TICAM1 | c.1608A>C (p.Arg536=) c.1191A>C (p.Arg397=) c.1566A>C (p.Arg522=) c.1473A>C (p.Arg491=) c.966A>C (p.Arg322=) | |
19 | g.4816771C>A | CA403489221 | TICAM1 | c.1607G>T (p.Arg536Leu) c.1190G>T (p.Arg397Leu) c.1565G>T (p.Arg522Leu) c.1472G>T (p.Arg491Leu) c.965G>T (p.Arg322Leu) | |
19 | g.4816771C= | CA2319605015 | TICAM1 | c.1607G= (p.Arg536=) c.1190G= (p.Arg397=) c.1565G= (p.Arg522=) c.1472G= (p.Arg491=) c.965G= (p.Arg322=) | |
19 | g.4816771C>G | CA403489222 | TICAM1 | c.1607G>C (p.Arg536Pro) c.1190G>C (p.Arg397Pro) c.1565G>C (p.Arg522Pro) c.1472G>C (p.Arg491Pro) c.965G>C (p.Arg322Pro) | |
19 | g.4816771C>T | CA9105099 | TICAM1 | c.1607G>A (p.Arg536Gln) c.1190G>A (p.Arg397Gln) c.1565G>A (p.Arg522Gln) c.1472G>A (p.Arg491Gln) c.965G>A (p.Arg322Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.4816772G>A | CA403489224 | TICAM1 | c.1606C>T (p.Arg536Ter) c.1189C>T (p.Arg397Ter) c.1564C>T (p.Arg522Ter) c.1471C>T (p.Arg491Ter) c.964C>T (p.Arg322Ter) | gnomAD v4 |
19 | g.4816772G>C | CA403489223 | TICAM1 | c.1606C>G (p.Arg536Gly) c.1189C>G (p.Arg397Gly) c.1564C>G (p.Arg522Gly) c.1471C>G (p.Arg491Gly) c.964C>G (p.Arg322Gly) | |
19 | g.4816772G>T | CA505174156 | TICAM1 | c.1606C>A (p.Arg536=) c.1189C>A (p.Arg397=) c.1564C>A (p.Arg522=) c.1471C>A (p.Arg491=) c.964C>A (p.Arg322=) | |
19 | g.4816774del | CA2576579903 | TICAM1 | c.1606del (p.Arg536GlufsTer?) c.1189del (p.Arg397GlufsTer?) c.1564del (p.Arg522GlufsTer?) c.1471del (p.Arg491GlufsTer?) c.964del (p.Arg322GlufsTer?) | |
19 | g.4816773G>A | CA9105100 | TICAM1 | c.1605C>T (p.Ala535=) c.1188C>T (p.Ala396=) c.1563C>T (p.Ala521=) c.1470C>T (p.Ala490=) c.963C>T (p.Ala321=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816773G>C | CA505174157 | TICAM1 | c.1605C>G (p.Ala535=) c.1188C>G (p.Ala396=) c.1563C>G (p.Ala521=) c.1470C>G (p.Ala490=) c.963C>G (p.Ala321=) | |
19 | g.4816773G= | CA2319605016 | TICAM1 | c.1605C= (p.Ala535=) c.1188C= (p.Ala396=) c.1563C= (p.Ala521=) c.1470C= (p.Ala490=) c.963C= (p.Ala321=) | |
19 | g.4816773G>T | CA505174158 | TICAM1 | c.1605C>A (p.Ala535=) c.1188C>A (p.Ala396=) c.1563C>A (p.Ala521=) c.1470C>A (p.Ala490=) c.963C>A (p.Ala321=) | gnomAD v4 |
19 | g.4816774G>A | CA403489225 | TICAM1 | c.1604C>T (p.Ala535Val) c.1187C>T (p.Ala396Val) c.1562C>T (p.Ala521Val) c.1469C>T (p.Ala490Val) c.962C>T (p.Ala321Val) | dbSNP gnomAD v2 |
19 | g.4816774G>C | CA403489226 | TICAM1 | c.1604C>G (p.Ala535Gly) c.1187C>G (p.Ala396Gly) c.1562C>G (p.Ala521Gly) c.1469C>G (p.Ala490Gly) c.962C>G (p.Ala321Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816774G= | CA2319605017 | TICAM1 | c.1604C= (p.Ala535=) c.1187C= (p.Ala396=) c.1562C= (p.Ala521=) c.1469C= (p.Ala490=) c.962C= (p.Ala321=) | |
19 | g.4816774G>T | CA403489227 | TICAM1 | c.1604C>A (p.Ala535Asp) c.1187C>A (p.Ala396Asp) c.1562C>A (p.Ala521Asp) c.1469C>A (p.Ala490Asp) c.962C>A (p.Ala321Asp) | gnomAD v4 |
19 | g.4816775C>A | CA403489228 | TICAM1 | c.1603G>T (p.Ala535Ser) c.1186G>T (p.Ala396Ser) c.1561G>T (p.Ala521Ser) c.1468G>T (p.Ala490Ser) c.961G>T (p.Ala321Ser) | gnomAD v4 |
19 | g.4816775C>G | CA403489229 | TICAM1 | c.1603G>C (p.Ala535Pro) c.1186G>C (p.Ala396Pro) c.1561G>C (p.Ala521Pro) c.1468G>C (p.Ala490Pro) c.961G>C (p.Ala321Pro) | |
19 | g.4816775C>T | CA403489230 | TICAM1 | c.1603G>A (p.Ala535Thr) c.1186G>A (p.Ala396Thr) c.1561G>A (p.Ala521Thr) c.1468G>A (p.Ala490Thr) c.961G>A (p.Ala321Thr) |