| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.4816607A>C | CA403488858 | TICAM1 | c.1771T>G (p.Phe591Val) c.1354T>G (p.Phe452Val) c.1729T>G (p.Phe577Val) c.1636T>G (p.Phe546Val) c.1129T>G (p.Phe377Val) | |
| 19 | g.4816607A>G | CA403488859 | TICAM1 | c.1771T>C (p.Phe591Leu) c.1354T>C (p.Phe452Leu) c.1729T>C (p.Phe577Leu) c.1636T>C (p.Phe546Leu) c.1129T>C (p.Phe377Leu) | gnomAD v4 |
| 19 | g.4816607A>T | CA403488860 | TICAM1 | c.1771T>A (p.Phe591Ile) c.1354T>A (p.Phe452Ile) c.1729T>A (p.Phe577Ile) c.1636T>A (p.Phe546Ile) c.1129T>A (p.Phe377Ile) | |
| 19 | g.4816608A>C | CA505174298 | TICAM1 | c.1770T>G (p.Ala590=) c.1353T>G (p.Ala451=) c.1728T>G (p.Ala576=) c.1635T>G (p.Ala545=) c.1128T>G (p.Ala376=) | |
| 19 | g.4816608A>G | CA505174299 | TICAM1 | c.1770T>C (p.Ala590=) c.1353T>C (p.Ala451=) c.1728T>C (p.Ala576=) c.1635T>C (p.Ala545=) c.1128T>C (p.Ala376=) | |
| 19 | g.4816608A>T | CA505174300 | TICAM1 | c.1770T>A (p.Ala590=) c.1353T>A (p.Ala451=) c.1728T>A (p.Ala576=) c.1635T>A (p.Ala545=) c.1128T>A (p.Ala376=) | |
| 19 | g.4816609G>A | CA403488861 | TICAM1 | c.1769C>T (p.Ala590Val) c.1352C>T (p.Ala451Val) c.1727C>T (p.Ala576Val) c.1634C>T (p.Ala545Val) c.1127C>T (p.Ala376Val) | gnomAD v4 |
| 19 | g.4816609G>C | CA403488862 | TICAM1 | c.1769C>G (p.Ala590Gly) c.1352C>G (p.Ala451Gly) c.1727C>G (p.Ala576Gly) c.1634C>G (p.Ala545Gly) c.1127C>G (p.Ala376Gly) | |
| 19 | g.4816609G>T | CA403488863 | TICAM1 | c.1769C>A (p.Ala590Asp) c.1352C>A (p.Ala451Asp) c.1727C>A (p.Ala576Asp) c.1634C>A (p.Ala545Asp) c.1127C>A (p.Ala376Asp) | |
| 19 | g.4816610C>A | CA403488864 | TICAM1 | c.1768G>T (p.Ala590Ser) c.1351G>T (p.Ala451Ser) c.1726G>T (p.Ala576Ser) c.1633G>T (p.Ala545Ser) c.1126G>T (p.Ala376Ser) | |
| 19 | g.4816610C>G | CA403488865 | TICAM1 | c.1768G>C (p.Ala590Pro) c.1351G>C (p.Ala451Pro) c.1726G>C (p.Ala576Pro) c.1633G>C (p.Ala545Pro) c.1126G>C (p.Ala376Pro) | |
| 19 | g.4816610C>T | CA403488866 | TICAM1 | c.1768G>A (p.Ala590Thr) c.1351G>A (p.Ala451Thr) c.1726G>A (p.Ala576Thr) c.1633G>A (p.Ala545Thr) c.1126G>A (p.Ala376Thr) | |
| 19 | g.4816611C>A | CA505174306 | TICAM1 | c.1767G>T (p.Val589=) c.1350G>T (p.Val450=) c.1725G>T (p.Val575=) c.1632G>T (p.Val544=) c.1125G>T (p.Val375=) | |
| 19 | g.4816611C>G | CA505174303 | TICAM1 | c.1767G>C (p.Val589=) c.1350G>C (p.Val450=) c.1725G>C (p.Val575=) c.1632G>C (p.Val544=) c.1125G>C (p.Val375=) | |
| 19 | g.4816611C>T | CA505174305 | TICAM1 | c.1767G>A (p.Val589=) c.1350G>A (p.Val450=) c.1725G>A (p.Val575=) c.1632G>A (p.Val544=) c.1125G>A (p.Val375=) | |
| 19 | g.4816612A>C | CA403488868 | TICAM1 | c.1766T>G (p.Val589Gly) c.1349T>G (p.Val450Gly) c.1724T>G (p.Val575Gly) c.1631T>G (p.Val544Gly) c.1124T>G (p.Val375Gly) | |
| 19 | g.4816612A>G | CA403488869 | TICAM1 | c.1766T>C (p.Val589Ala) c.1349T>C (p.Val450Ala) c.1724T>C (p.Val575Ala) c.1631T>C (p.Val544Ala) c.1124T>C (p.Val375Ala) | |
| 19 | g.4816612A>T | CA403488867 | TICAM1 | c.1766T>A (p.Val589Glu) c.1349T>A (p.Val450Glu) c.1724T>A (p.Val575Glu) c.1631T>A (p.Val544Glu) c.1124T>A (p.Val375Glu) | |
| 19 | g.4816613C>A | CA403488870 | TICAM1 | c.1765G>T (p.Val589Leu) c.1348G>T (p.Val450Leu) c.1723G>T (p.Val575Leu) c.1630G>T (p.Val544Leu) c.1123G>T (p.Val375Leu) | |
| 19 | g.4816613C>G | CA403488871 | TICAM1 | c.1765G>C (p.Val589Leu) c.1348G>C (p.Val450Leu) c.1723G>C (p.Val575Leu) c.1630G>C (p.Val544Leu) c.1123G>C (p.Val375Leu) | |
| 19 | g.4816613C>T | CA403488872 | TICAM1 | c.1765G>A (p.Val589Met) c.1348G>A (p.Val450Met) c.1723G>A (p.Val575Met) c.1630G>A (p.Val544Met) c.1123G>A (p.Val375Met) | gnomAD v4 |
| 19 | g.4816614C>A | CA403488873 | TICAM1 | c.1764G>T (p.Gln588His) c.1347G>T (p.Gln449His) c.1722G>T (p.Gln574His) c.1629G>T (p.Gln543His) c.1122G>T (p.Gln374His) | gnomAD v4 |
| 19 | g.4816614C>G | CA403488874 | TICAM1 | c.1764G>C (p.Gln588His) c.1347G>C (p.Gln449His) c.1722G>C (p.Gln574His) c.1629G>C (p.Gln543His) c.1122G>C (p.Gln374His) | |
| 19 | g.4816614C>T | CA505174313 | TICAM1 | c.1764G>A (p.Gln588=) c.1347G>A (p.Gln449=) c.1722G>A (p.Gln574=) c.1629G>A (p.Gln543=) c.1122G>A (p.Gln374=) | |
| 19 | g.4816615T>A | CA403488876 | TICAM1 | c.1763A>T (p.Gln588Leu) c.1346A>T (p.Gln449Leu) c.1721A>T (p.Gln574Leu) c.1628A>T (p.Gln543Leu) c.1121A>T (p.Gln374Leu) | |
| 19 | g.4816615T>C | CA403488875 | TICAM1 | c.1763A>G (p.Gln588Arg) c.1346A>G (p.Gln449Arg) c.1721A>G (p.Gln574Arg) c.1628A>G (p.Gln543Arg) c.1121A>G (p.Gln374Arg) | gnomAD v4 |
| 19 | g.4816615T>G | CA9105075 | TICAM1 | c.1763A>C (p.Gln588Pro) c.1346A>C (p.Gln449Pro) c.1721A>C (p.Gln574Pro) c.1628A>C (p.Gln543Pro) c.1121A>C (p.Gln374Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816615T= | CA2319604953 | TICAM1 | c.1763A= (p.Gln588=) c.1346A= (p.Gln449=) c.1721A= (p.Gln574=) c.1628A= (p.Gln543=) c.1121A= (p.Gln374=) | |
| 19 | g.4816616G>A | CA403488877 | TICAM1 | c.1762C>T (p.Gln588Ter) c.1345C>T (p.Gln449Ter) c.1720C>T (p.Gln574Ter) c.1627C>T (p.Gln543Ter) c.1120C>T (p.Gln374Ter) | |
| 19 | g.4816616G>C | CA403488878 | TICAM1 | c.1762C>G (p.Gln588Glu) c.1345C>G (p.Gln449Glu) c.1720C>G (p.Gln574Glu) c.1627C>G (p.Gln543Glu) c.1120C>G (p.Gln374Glu) | |
| 19 | g.4816616G>T | CA403488879 | TICAM1 | c.1762C>A (p.Gln588Lys) c.1345C>A (p.Gln449Lys) c.1720C>A (p.Gln574Lys) c.1627C>A (p.Gln543Lys) c.1120C>A (p.Gln374Lys) | |
| 19 | g.4816617G>A | CA505174319 | TICAM1 | c.1761C>T (p.Leu587=) c.1344C>T (p.Leu448=) c.1719C>T (p.Leu573=) c.1626C>T (p.Leu542=) c.1119C>T (p.Leu373=) | |
| 19 | g.4816617G>C | CA505174320 | TICAM1 | c.1761C>G (p.Leu587=) c.1344C>G (p.Leu448=) c.1719C>G (p.Leu573=) c.1626C>G (p.Leu542=) c.1119C>G (p.Leu373=) | |
| 19 | g.4816617G>T | CA505174321 | TICAM1 | c.1761C>A (p.Leu587=) c.1344C>A (p.Leu448=) c.1719C>A (p.Leu573=) c.1626C>A (p.Leu542=) c.1119C>A (p.Leu373=) | |
| 19 | g.4816618A= | CA2319604954 | TICAM1 | c.1760T= (p.Leu587=) c.1343T= (p.Leu448=) c.1718T= (p.Leu573=) c.1625T= (p.Leu542=) c.1118T= (p.Leu373=) | |
| 19 | g.4816618A>C | CA403488880 | TICAM1 | c.1760T>G (p.Leu587Arg) c.1343T>G (p.Leu448Arg) c.1718T>G (p.Leu573Arg) c.1625T>G (p.Leu542Arg) c.1118T>G (p.Leu373Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816618A>G | CA403488881 | TICAM1 | c.1760T>C (p.Leu587Pro) c.1343T>C (p.Leu448Pro) c.1718T>C (p.Leu573Pro) c.1625T>C (p.Leu542Pro) c.1118T>C (p.Leu373Pro) | dbSNP |
| 19 | g.4816618A>T | CA403488882 | TICAM1 | c.1760T>A (p.Leu587His) c.1343T>A (p.Leu448His) c.1718T>A (p.Leu573His) c.1625T>A (p.Leu542His) c.1118T>A (p.Leu373His) | |
| 19 | g.4816619G>A | CA403488883 | TICAM1 | c.1759C>T (p.Leu587Phe) c.1342C>T (p.Leu448Phe) c.1717C>T (p.Leu573Phe) c.1624C>T (p.Leu542Phe) c.1117C>T (p.Leu373Phe) | |
| 19 | g.4816619G>C | CA403488885 | TICAM1 | c.1759C>G (p.Leu587Val) c.1342C>G (p.Leu448Val) c.1717C>G (p.Leu573Val) c.1624C>G (p.Leu542Val) c.1117C>G (p.Leu373Val) | |
| 19 | g.4816619G>T | CA403488884 | TICAM1 | c.1759C>A (p.Leu587Ile) c.1342C>A (p.Leu448Ile) c.1717C>A (p.Leu573Ile) c.1624C>A (p.Leu542Ile) c.1117C>A (p.Leu373Ile) | |
| 19 | g.4816620C>A | CA403488886 | TICAM1 | c.1758G>T (p.Gln586His) c.1341G>T (p.Gln447His) c.1716G>T (p.Gln572His) c.1623G>T (p.Gln541His) c.1116G>T (p.Gln372His) | |
| 19 | g.4816620C= | CA2319604955 | TICAM1 | c.1758G= (p.Gln586=) c.1341G= (p.Gln447=) c.1716G= (p.Gln572=) c.1623G= (p.Gln541=) c.1116G= (p.Gln372=) | |
| 19 | g.4816620C>G | CA403488887 | TICAM1 | c.1758G>C (p.Gln586His) c.1341G>C (p.Gln447His) c.1716G>C (p.Gln572His) c.1623G>C (p.Gln541His) c.1116G>C (p.Gln372His) | |
| 19 | g.4816620C>T | CA505174326 | TICAM1 | c.1758G>A (p.Gln586=) c.1341G>A (p.Gln447=) c.1716G>A (p.Gln572=) c.1623G>A (p.Gln541=) c.1116G>A (p.Gln372=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.4816621T>A | CA403488888 | TICAM1 | c.1757A>T (p.Gln586Leu) c.1340A>T (p.Gln447Leu) c.1715A>T (p.Gln572Leu) c.1622A>T (p.Gln541Leu) c.1115A>T (p.Gln372Leu) | |
| 19 | g.4816621T>C | CA403488889 | TICAM1 | c.1757A>G (p.Gln586Arg) c.1340A>G (p.Gln447Arg) c.1715A>G (p.Gln572Arg) c.1622A>G (p.Gln541Arg) c.1115A>G (p.Gln372Arg) | |
| 19 | g.4816621T>G | CA403488890 | TICAM1 | c.1757A>C (p.Gln586Pro) c.1340A>C (p.Gln447Pro) c.1715A>C (p.Gln572Pro) c.1622A>C (p.Gln541Pro) c.1115A>C (p.Gln372Pro) | |
| 19 | g.4816622G>A | CA403488891 | TICAM1 | c.1756C>T (p.Gln586Ter) c.1339C>T (p.Gln447Ter) c.1714C>T (p.Gln572Ter) c.1621C>T (p.Gln541Ter) c.1114C>T (p.Gln372Ter) | |
| 19 | g.4816622G>C | CA9105076 | TICAM1 | c.1756C>G (p.Gln586Glu) c.1339C>G (p.Gln447Glu) c.1714C>G (p.Gln572Glu) c.1621C>G (p.Gln541Glu) c.1114C>G (p.Gln372Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |