Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.4816630T>A | CA403488911 | TICAM1 | c.1748A>T (p.Gln583Leu) c.1331A>T (p.Gln444Leu) c.1706A>T (p.Gln569Leu) c.1613A>T (p.Gln538Leu) c.1106A>T (p.Gln369Leu) | |
19 | g.4816630T>C | CA403488912 | TICAM1 | c.1748A>G (p.Gln583Arg) c.1331A>G (p.Gln444Arg) c.1706A>G (p.Gln569Arg) c.1613A>G (p.Gln538Arg) c.1106A>G (p.Gln369Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816630T>G | CA403488913 | TICAM1 | c.1748A>C (p.Gln583Pro) c.1331A>C (p.Gln444Pro) c.1706A>C (p.Gln569Pro) c.1613A>C (p.Gln538Pro) c.1106A>C (p.Gln369Pro) | |
19 | g.4816630T= | CA2319604959 | TICAM1 | c.1748A= (p.Gln583=) c.1331A= (p.Gln444=) c.1706A= (p.Gln569=) c.1613A= (p.Gln538=) c.1106A= (p.Gln369=) | |
19 | g.4816631G>A | CA403488914 | TICAM1 | c.1747C>T (p.Gln583Ter) c.1330C>T (p.Gln444Ter) c.1705C>T (p.Gln569Ter) c.1612C>T (p.Gln538Ter) c.1105C>T (p.Gln369Ter) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816631G>C | CA403488915 | TICAM1 | c.1747C>G (p.Gln583Glu) c.1330C>G (p.Gln444Glu) c.1705C>G (p.Gln569Glu) c.1612C>G (p.Gln538Glu) c.1105C>G (p.Gln369Glu) | |
19 | g.4816631G= | CA2319604960 | TICAM1 | c.1747C= (p.Gln583=) c.1330C= (p.Gln444=) c.1705C= (p.Gln569=) c.1612C= (p.Gln538=) c.1105C= (p.Gln369=) | |
19 | g.4816631G>T | CA403488916 | TICAM1 | c.1747C>A (p.Gln583Lys) c.1330C>A (p.Gln444Lys) c.1705C>A (p.Gln569Lys) c.1612C>A (p.Gln538Lys) c.1105C>A (p.Gln369Lys) | |
19 | g.4816632T>A | CA505174347 | TICAM1 | c.1746A>T (p.Ala582=) c.1329A>T (p.Ala443=) c.1704A>T (p.Ala568=) c.1611A>T (p.Ala537=) c.1104A>T (p.Ala368=) | |
19 | g.4816632T>C | CA505174349 | TICAM1 | c.1746A>G (p.Ala582=) c.1329A>G (p.Ala443=) c.1704A>G (p.Ala568=) c.1611A>G (p.Ala537=) c.1104A>G (p.Ala368=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816632T>G | CA505174348 | TICAM1 | c.1746A>C (p.Ala582=) c.1329A>C (p.Ala443=) c.1704A>C (p.Ala568=) c.1611A>C (p.Ala537=) c.1104A>C (p.Ala368=) | |
19 | g.4816632T= | CA2319604961 | TICAM1 | c.1746A= (p.Ala582=) c.1329A= (p.Ala443=) c.1704A= (p.Ala568=) c.1611A= (p.Ala537=) c.1104A= (p.Ala368=) | |
19 | g.4816633G>A | CA403488919 | TICAM1 | c.1745C>T (p.Ala582Val) c.1328C>T (p.Ala443Val) c.1703C>T (p.Ala568Val) c.1610C>T (p.Ala537Val) c.1103C>T (p.Ala368Val) | gnomAD v4 |
19 | g.4816633G>C | CA403488917 | TICAM1 | c.1745C>G (p.Ala582Gly) c.1328C>G (p.Ala443Gly) c.1703C>G (p.Ala568Gly) c.1610C>G (p.Ala537Gly) c.1103C>G (p.Ala368Gly) | |
19 | g.4816633G= | CA2319604962 | TICAM1 | c.1745C= (p.Ala582=) c.1328C= (p.Ala443=) c.1703C= (p.Ala568=) c.1610C= (p.Ala537=) c.1103C= (p.Ala368=) | |
19 | g.4816633G>T | CA403488918 | TICAM1 | c.1745C>A (p.Ala582Glu) c.1328C>A (p.Ala443Glu) c.1703C>A (p.Ala568Glu) c.1610C>A (p.Ala537Glu) c.1103C>A (p.Ala368Glu) | dbSNP gnomAD v4 |
19 | g.4816634C>A | CA403488920 | TICAM1 | c.1744G>T (p.Ala582Ser) c.1327G>T (p.Ala443Ser) c.1702G>T (p.Ala568Ser) c.1609G>T (p.Ala537Ser) c.1102G>T (p.Ala368Ser) | |
19 | g.4816634C>G | CA403488921 | TICAM1 | c.1744G>C (p.Ala582Pro) c.1327G>C (p.Ala443Pro) c.1702G>C (p.Ala568Pro) c.1609G>C (p.Ala537Pro) c.1102G>C (p.Ala368Pro) | |
19 | g.4816634C>T | CA403488922 | TICAM1 | c.1744G>A (p.Ala582Thr) c.1327G>A (p.Ala443Thr) c.1702G>A (p.Ala568Thr) c.1609G>A (p.Ala537Thr) c.1102G>A (p.Ala368Thr) | gnomAD v4 |
19 | g.4816635C>A | CA403488923 | TICAM1 | c.1743G>T (p.Gln581His) c.1326G>T (p.Gln442His) c.1701G>T (p.Gln567His) c.1608G>T (p.Gln536His) c.1101G>T (p.Gln367His) | |
19 | g.4816635C>G | CA403488924 | TICAM1 | c.1743G>C (p.Gln581His) c.1326G>C (p.Gln442His) c.1701G>C (p.Gln567His) c.1608G>C (p.Gln536His) c.1101G>C (p.Gln367His) | |
19 | g.4816635C>T | CA505174355 | TICAM1 | c.1743G>A (p.Gln581=) c.1326G>A (p.Gln442=) c.1701G>A (p.Gln567=) c.1608G>A (p.Gln536=) c.1101G>A (p.Gln367=) | |
19 | g.4816636T>A | CA403488925 | TICAM1 | c.1742A>T (p.Gln581Leu) c.1325A>T (p.Gln442Leu) c.1700A>T (p.Gln567Leu) c.1607A>T (p.Gln536Leu) c.1100A>T (p.Gln367Leu) | |
19 | g.4816636T>C | CA403488926 | TICAM1 | c.1742A>G (p.Gln581Arg) c.1325A>G (p.Gln442Arg) c.1700A>G (p.Gln567Arg) c.1607A>G (p.Gln536Arg) c.1100A>G (p.Gln367Arg) | |
19 | g.4816636T>G | CA403488927 | TICAM1 | c.1742A>C (p.Gln581Pro) c.1325A>C (p.Gln442Pro) c.1700A>C (p.Gln567Pro) c.1607A>C (p.Gln536Pro) c.1100A>C (p.Gln367Pro) | |
19 | g.4816637G>A | CA403488928 | TICAM1 | c.1741C>T (p.Gln581Ter) c.1324C>T (p.Gln442Ter) c.1699C>T (p.Gln567Ter) c.1606C>T (p.Gln536Ter) c.1099C>T (p.Gln367Ter) | |
19 | g.4816637G>C | CA403488929 | TICAM1 | c.1741C>G (p.Gln581Glu) c.1324C>G (p.Gln442Glu) c.1699C>G (p.Gln567Glu) c.1606C>G (p.Gln536Glu) c.1099C>G (p.Gln367Glu) | gnomAD v4 |
19 | g.4816637G>T | CA403488930 | TICAM1 | c.1741C>A (p.Gln581Lys) c.1324C>A (p.Gln442Lys) c.1699C>A (p.Gln567Lys) c.1606C>A (p.Gln536Lys) c.1099C>A (p.Gln367Lys) | |
19 | g.4816638G>A | CA505174360 | TICAM1 | c.1740C>T (p.Tyr580=) c.1323C>T (p.Tyr441=) c.1698C>T (p.Tyr566=) c.1605C>T (p.Tyr535=) c.1098C>T (p.Tyr366=) | |
19 | g.4816638G>C | CA403488931 | TICAM1 | c.1740C>G (p.Tyr580Ter) c.1323C>G (p.Tyr441Ter) c.1698C>G (p.Tyr566Ter) c.1605C>G (p.Tyr535Ter) c.1098C>G (p.Tyr366Ter) | |
19 | g.4816638G>T | CA403488932 | TICAM1 | c.1740C>A (p.Tyr580Ter) c.1323C>A (p.Tyr441Ter) c.1698C>A (p.Tyr566Ter) c.1605C>A (p.Tyr535Ter) c.1098C>A (p.Tyr366Ter) | |
19 | g.4816639T>A | CA403488934 | TICAM1 | c.1739A>T (p.Tyr580Phe) c.1322A>T (p.Tyr441Phe) c.1697A>T (p.Tyr566Phe) c.1604A>T (p.Tyr535Phe) c.1097A>T (p.Tyr366Phe) | |
19 | g.4816639T>C | CA9105078 | TICAM1 | c.1739A>G (p.Tyr580Cys) c.1322A>G (p.Tyr441Cys) c.1697A>G (p.Tyr566Cys) c.1604A>G (p.Tyr535Cys) c.1097A>G (p.Tyr366Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816639T>G | CA403488933 | TICAM1 | c.1739A>C (p.Tyr580Ser) c.1322A>C (p.Tyr441Ser) c.1697A>C (p.Tyr566Ser) c.1604A>C (p.Tyr535Ser) c.1097A>C (p.Tyr366Ser) | |
19 | g.4816639T= | CA2319604963 | TICAM1 | c.1739A= (p.Tyr580=) c.1322A= (p.Tyr441=) c.1697A= (p.Tyr566=) c.1604A= (p.Tyr535=) c.1097A= (p.Tyr366=) | |
19 | g.4816640A>C | CA403488935 | TICAM1 | c.1738T>G (p.Tyr580Asp) c.1321T>G (p.Tyr441Asp) c.1696T>G (p.Tyr566Asp) c.1603T>G (p.Tyr535Asp) c.1096T>G (p.Tyr366Asp) | |
19 | g.4816640A>G | CA403488936 | TICAM1 | c.1738T>C (p.Tyr580His) c.1321T>C (p.Tyr441His) c.1696T>C (p.Tyr566His) c.1603T>C (p.Tyr535His) c.1096T>C (p.Tyr366His) | |
19 | g.4816640A>T | CA403488937 | TICAM1 | c.1738T>A (p.Tyr580Asn) c.1321T>A (p.Tyr441Asn) c.1696T>A (p.Tyr566Asn) c.1603T>A (p.Tyr535Asn) c.1096T>A (p.Tyr366Asn) | |
19 | g.4816641G>A | CA505174367 | TICAM1 | c.1737C>T (p.Ser579=) c.1320C>T (p.Ser440=) c.1695C>T (p.Ser565=) c.1602C>T (p.Ser534=) c.1095C>T (p.Ser365=) | gnomAD v4 |
19 | g.4816641G>C | CA505174369 | TICAM1 | c.1737C>G (p.Ser579=) c.1320C>G (p.Ser440=) c.1695C>G (p.Ser565=) c.1602C>G (p.Ser534=) c.1095C>G (p.Ser365=) | |
19 | g.4816641G= | CA2319604964 | TICAM1 | c.1737C= (p.Ser579=) c.1320C= (p.Ser440=) c.1695C= (p.Ser565=) c.1602C= (p.Ser534=) c.1095C= (p.Ser365=) | |
19 | g.4816641G>T | CA505174371 | TICAM1 | c.1737C>A (p.Ser579=) c.1320C>A (p.Ser440=) c.1695C>A (p.Ser565=) c.1602C>A (p.Ser534=) c.1095C>A (p.Ser365=) | dbSNP gnomAD v2 |
19 | g.4816642G>A | CA403488938 | TICAM1 | c.1736C>T (p.Ser579Phe) c.1319C>T (p.Ser440Phe) c.1694C>T (p.Ser565Phe) c.1601C>T (p.Ser534Phe) c.1094C>T (p.Ser365Phe) | |
19 | g.4816642G>C | CA403488939 | TICAM1 | c.1736C>G (p.Ser579Cys) c.1319C>G (p.Ser440Cys) c.1694C>G (p.Ser565Cys) c.1601C>G (p.Ser534Cys) c.1094C>G (p.Ser365Cys) | |
19 | g.4816642G>T | CA403488940 | TICAM1 | c.1736C>A (p.Ser579Tyr) c.1319C>A (p.Ser440Tyr) c.1694C>A (p.Ser565Tyr) c.1601C>A (p.Ser534Tyr) c.1094C>A (p.Ser365Tyr) | |
19 | g.4816643A>C | CA403488941 | TICAM1 | c.1735T>G (p.Ser579Ala) c.1318T>G (p.Ser440Ala) c.1693T>G (p.Ser565Ala) c.1600T>G (p.Ser534Ala) c.1093T>G (p.Ser365Ala) | |
19 | g.4816643A>G | CA403488942 | TICAM1 | c.1735T>C (p.Ser579Pro) c.1318T>C (p.Ser440Pro) c.1693T>C (p.Ser565Pro) c.1600T>C (p.Ser534Pro) c.1093T>C (p.Ser365Pro) | |
19 | g.4816643A>T | CA403488943 | TICAM1 | c.1735T>A (p.Ser579Thr) c.1318T>A (p.Ser440Thr) c.1693T>A (p.Ser565Thr) c.1600T>A (p.Ser534Thr) c.1093T>A (p.Ser365Thr) | |
19 | g.4816644C>A | CA403488944 | TICAM1 | c.1734G>T (p.Leu578Phe) c.1317G>T (p.Leu439Phe) c.1692G>T (p.Leu564Phe) c.1599G>T (p.Leu533Phe) c.1092G>T (p.Leu364Phe) | |
19 | g.4816644C>G | CA403488945 | TICAM1 | c.1734G>C (p.Leu578Phe) c.1317G>C (p.Leu439Phe) c.1692G>C (p.Leu564Phe) c.1599G>C (p.Leu533Phe) c.1092G>C (p.Leu364Phe) | |
19 | g.4816644C>T | CA505174377 | TICAM1 | c.1734G>A (p.Leu578=) c.1317G>A (p.Leu439=) c.1692G>A (p.Leu564=) c.1599G>A (p.Leu533=) c.1092G>A (p.Leu364=) | |
19 | g.4816645A>C | CA403488946 | TICAM1 | c.1733T>G (p.Leu578Trp) c.1316T>G (p.Leu439Trp) c.1691T>G (p.Leu564Trp) c.1598T>G (p.Leu533Trp) c.1091T>G (p.Leu364Trp) | |
19 | g.4816645A>G | CA403488947 | TICAM1 | c.1733T>C (p.Leu578Ser) c.1316T>C (p.Leu439Ser) c.1691T>C (p.Leu564Ser) c.1598T>C (p.Leu533Ser) c.1091T>C (p.Leu364Ser) | |
19 | g.4816645A>T | CA403488948 | TICAM1 | c.1733T>A (p.Leu578Ter) c.1316T>A (p.Leu439Ter) c.1691T>A (p.Leu564Ter) c.1598T>A (p.Leu533Ter) c.1091T>A (p.Leu364Ter) | |
19 | g.4816646A>C | CA403488950 | TICAM1 | c.1732T>G (p.Leu578Val) c.1315T>G (p.Leu439Val) c.1690T>G (p.Leu564Val) c.1597T>G (p.Leu533Val) c.1090T>G (p.Leu364Val) | |
19 | g.4816646A>G | CA505174378 | TICAM1 | c.1732T>C (p.Leu578=) c.1315T>C (p.Leu439=) c.1690T>C (p.Leu564=) c.1597T>C (p.Leu533=) c.1090T>C (p.Leu364=) | |
19 | g.4816646A>T | CA403488949 | TICAM1 | c.1732T>A (p.Leu578Met) c.1315T>A (p.Leu439Met) c.1690T>A (p.Leu564Met) c.1597T>A (p.Leu533Met) c.1090T>A (p.Leu364Met) | |
19 | g.4816647G>A | CA505174379 | TICAM1 | c.1731C>T (p.Tyr577=) c.1314C>T (p.Tyr438=) c.1689C>T (p.Tyr563=) c.1596C>T (p.Tyr532=) c.1089C>T (p.Tyr363=) | |
19 | g.4816647G>C | CA403488951 | TICAM1 | c.1731C>G (p.Tyr577Ter) c.1314C>G (p.Tyr438Ter) c.1689C>G (p.Tyr563Ter) c.1596C>G (p.Tyr532Ter) c.1089C>G (p.Tyr363Ter) | |
19 | g.4816647G>T | CA403488952 | TICAM1 | c.1731C>A (p.Tyr577Ter) c.1314C>A (p.Tyr438Ter) c.1689C>A (p.Tyr563Ter) c.1596C>A (p.Tyr532Ter) c.1089C>A (p.Tyr363Ter) | |
19 | g.4816648T>A | CA403488953 | TICAM1 | c.1730A>T (p.Tyr577Phe) c.1313A>T (p.Tyr438Phe) c.1688A>T (p.Tyr563Phe) c.1595A>T (p.Tyr532Phe) c.1088A>T (p.Tyr363Phe) | |
19 | g.4816648T>C | CA403488954 | TICAM1 | c.1730A>G (p.Tyr577Cys) c.1313A>G (p.Tyr438Cys) c.1688A>G (p.Tyr563Cys) c.1595A>G (p.Tyr532Cys) c.1088A>G (p.Tyr363Cys) | |
19 | g.4816648T>G | CA403488955 | TICAM1 | c.1730A>C (p.Tyr577Ser) c.1313A>C (p.Tyr438Ser) c.1688A>C (p.Tyr563Ser) c.1595A>C (p.Tyr532Ser) c.1088A>C (p.Tyr363Ser) | |
19 | g.4816649A>C | CA403488956 | TICAM1 | c.1729T>G (p.Tyr577Asp) c.1312T>G (p.Tyr438Asp) c.1687T>G (p.Tyr563Asp) c.1594T>G (p.Tyr532Asp) c.1087T>G (p.Tyr363Asp) | |
19 | g.4816649A>G | CA403488957 | TICAM1 | c.1729T>C (p.Tyr577His) c.1312T>C (p.Tyr438His) c.1687T>C (p.Tyr563His) c.1594T>C (p.Tyr532His) c.1087T>C (p.Tyr363His) | |
19 | g.4816649A>T | CA403488958 | TICAM1 | c.1729T>A (p.Tyr577Asn) c.1312T>A (p.Tyr438Asn) c.1687T>A (p.Tyr563Asn) c.1594T>A (p.Tyr532Asn) c.1087T>A (p.Tyr363Asn) | |
19 | g.4816650G>A | CA505174386 | TICAM1 | c.1728C>T (p.Ser576=) c.1311C>T (p.Ser437=) c.1686C>T (p.Ser562=) c.1593C>T (p.Ser531=) c.1086C>T (p.Ser362=) | |
19 | g.4816650G>C | CA403488959 | TICAM1 | c.1728C>G (p.Ser576Arg) c.1311C>G (p.Ser437Arg) c.1686C>G (p.Ser562Arg) c.1593C>G (p.Ser531Arg) c.1086C>G (p.Ser362Arg) | |
19 | g.4816650G>T | CA403488960 | TICAM1 | c.1728C>A (p.Ser576Arg) c.1311C>A (p.Ser437Arg) c.1686C>A (p.Ser562Arg) c.1593C>A (p.Ser531Arg) c.1086C>A (p.Ser362Arg) | |
19 | g.4816651C>A | CA403488961 | TICAM1 | c.1727G>T (p.Ser576Ile) c.1310G>T (p.Ser437Ile) c.1685G>T (p.Ser562Ile) c.1592G>T (p.Ser531Ile) c.1085G>T (p.Ser362Ile) | |
19 | g.4816651C= | CA2319604965 | TICAM1 | c.1727G= (p.Ser576=) c.1310G= (p.Ser437=) c.1685G= (p.Ser562=) c.1592G= (p.Ser531=) c.1085G= (p.Ser362=) | |
19 | g.4816651C>G | CA403488962 | TICAM1 | c.1727G>C (p.Ser576Thr) c.1310G>C (p.Ser437Thr) c.1685G>C (p.Ser562Thr) c.1592G>C (p.Ser531Thr) c.1085G>C (p.Ser362Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816651C>T | CA403488963 | TICAM1 | c.1727G>A (p.Ser576Asn) c.1310G>A (p.Ser437Asn) c.1685G>A (p.Ser562Asn) c.1592G>A (p.Ser531Asn) c.1085G>A (p.Ser362Asn) | gnomAD v4 |
19 | g.4816652T>A | CA403488964 | TICAM1 | c.1726A>T (p.Ser576Cys) c.1309A>T (p.Ser437Cys) c.1684A>T (p.Ser562Cys) c.1591A>T (p.Ser531Cys) c.1084A>T (p.Ser362Cys) | |
19 | g.4816652T>C | CA403488966 | TICAM1 | c.1726A>G (p.Ser576Gly) c.1309A>G (p.Ser437Gly) c.1684A>G (p.Ser562Gly) c.1591A>G (p.Ser531Gly) c.1084A>G (p.Ser362Gly) | |
19 | g.4816652T>G | CA403488965 | TICAM1 | c.1726A>C (p.Ser576Arg) c.1309A>C (p.Ser437Arg) c.1684A>C (p.Ser562Arg) c.1591A>C (p.Ser531Arg) c.1084A>C (p.Ser362Arg) | |
19 | g.4816653C>A | CA403488967 | TICAM1 | c.1725G>T (p.Gln575His) c.1308G>T (p.Gln436His) c.1683G>T (p.Gln561His) c.1590G>T (p.Gln530His) c.1083G>T (p.Gln361His) | |
19 | g.4816653C>G | CA403488968 | TICAM1 | c.1725G>C (p.Gln575His) c.1308G>C (p.Gln436His) c.1683G>C (p.Gln561His) c.1590G>C (p.Gln530His) c.1083G>C (p.Gln361His) | gnomAD v4 |
19 | g.4816653C>T | CA505174391 | TICAM1 | c.1725G>A (p.Gln575=) c.1308G>A (p.Gln436=) c.1683G>A (p.Gln561=) c.1590G>A (p.Gln530=) c.1083G>A (p.Gln361=) | |
19 | g.4816654T>A | CA403488969 | TICAM1 | c.1724A>T (p.Gln575Leu) c.1307A>T (p.Gln436Leu) c.1682A>T (p.Gln561Leu) c.1589A>T (p.Gln530Leu) c.1082A>T (p.Gln361Leu) | |
19 | g.4816654T>C | CA403488970 | TICAM1 | c.1724A>G (p.Gln575Arg) c.1307A>G (p.Gln436Arg) c.1682A>G (p.Gln561Arg) c.1589A>G (p.Gln530Arg) c.1082A>G (p.Gln361Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816654T>G | CA403488971 | TICAM1 | c.1724A>C (p.Gln575Pro) c.1307A>C (p.Gln436Pro) c.1682A>C (p.Gln561Pro) c.1589A>C (p.Gln530Pro) c.1082A>C (p.Gln361Pro) | |
19 | g.4816654T= | CA2319604966 | TICAM1 | c.1724A= (p.Gln575=) c.1307A= (p.Gln436=) c.1682A= (p.Gln561=) c.1589A= (p.Gln530=) c.1082A= (p.Gln361=) | |
19 | g.4816655G>A | CA403488972 | TICAM1 | c.1723C>T (p.Gln575Ter) c.1306C>T (p.Gln436Ter) c.1681C>T (p.Gln561Ter) c.1588C>T (p.Gln530Ter) c.1081C>T (p.Gln361Ter) | |
19 | g.4816655G>C | CA9105079 | TICAM1 | c.1723C>G (p.Gln575Glu) c.1306C>G (p.Gln436Glu) c.1681C>G (p.Gln561Glu) c.1588C>G (p.Gln530Glu) c.1081C>G (p.Gln361Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816655G= | CA2319604967 | TICAM1 | c.1723C= (p.Gln575=) c.1306C= (p.Gln436=) c.1681C= (p.Gln561=) c.1588C= (p.Gln530=) c.1081C= (p.Gln361=) | |
19 | g.4816655G>T | CA403488973 | TICAM1 | c.1723C>A (p.Gln575Lys) c.1306C>A (p.Gln436Lys) c.1681C>A (p.Gln561Lys) c.1588C>A (p.Gln530Lys) c.1081C>A (p.Gln361Lys) | |
19 | g.4816656dup | CA2842302128 | TICAM1 | c.1723dup (p.Gln575ProfsTer?) c.1306dup (p.Gln436ProfsTer?) c.1681dup (p.Gln561ProfsTer?) c.1588dup (p.Gln530ProfsTer?) c.1081dup (p.Gln361ProfsTer?) | |
19 | g.4816656del | CA2838326081 | TICAM1 | c.1723del (p.Gln575ArgfsTer?) c.1306del (p.Gln436ArgfsTer?) c.1681del (p.Gln561ArgfsTer?) c.1588del (p.Gln530ArgfsTer?) c.1081del (p.Gln361ArgfsTer?) | |
19 | g.4816656G>A | CA505174403 | TICAM1 | c.1722C>T (p.Leu574=) c.1305C>T (p.Leu435=) c.1680C>T (p.Leu560=) c.1587C>T (p.Leu529=) c.1080C>T (p.Leu360=) | gnomAD v4 |
19 | g.4816656G>C | CA505174402 | TICAM1 | c.1722C>G (p.Leu574=) c.1305C>G (p.Leu435=) c.1680C>G (p.Leu560=) c.1587C>G (p.Leu529=) c.1080C>G (p.Leu360=) | gnomAD v4 |
19 | g.4816656G>T | CA505174400 | TICAM1 | c.1722C>A (p.Leu574=) c.1305C>A (p.Leu435=) c.1680C>A (p.Leu560=) c.1587C>A (p.Leu529=) c.1080C>A (p.Leu360=) | |
19 | g.4816657A>C | CA403488974 | TICAM1 | c.1721T>G (p.Leu574Arg) c.1304T>G (p.Leu435Arg) c.1679T>G (p.Leu560Arg) c.1586T>G (p.Leu529Arg) c.1079T>G (p.Leu360Arg) | gnomAD v4 |
19 | g.4816657A>G | CA403488975 | TICAM1 | c.1721T>C (p.Leu574Pro) c.1304T>C (p.Leu435Pro) c.1679T>C (p.Leu560Pro) c.1586T>C (p.Leu529Pro) c.1079T>C (p.Leu360Pro) | |
19 | g.4816657A>T | CA403488976 | TICAM1 | c.1721T>A (p.Leu574His) c.1304T>A (p.Leu435His) c.1679T>A (p.Leu560His) c.1586T>A (p.Leu529His) c.1079T>A (p.Leu360His) | |
19 | g.4816658G>A | CA403488977 | TICAM1 | c.1720C>T (p.Leu574Phe) c.1303C>T (p.Leu435Phe) c.1678C>T (p.Leu560Phe) c.1585C>T (p.Leu529Phe) c.1078C>T (p.Leu360Phe) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816658G>C | CA9105080 | TICAM1 | c.1720C>G (p.Leu574Val) c.1303C>G (p.Leu435Val) c.1678C>G (p.Leu560Val) c.1585C>G (p.Leu529Val) c.1078C>G (p.Leu360Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816658G= | CA2319604968 | TICAM1 | c.1720C= (p.Leu574=) c.1303C= (p.Leu435=) c.1678C= (p.Leu560=) c.1585C= (p.Leu529=) c.1078C= (p.Leu360=) | |
19 | g.4816658G>T | CA403488978 | TICAM1 | c.1720C>A (p.Leu574Ile) c.1303C>A (p.Leu435Ile) c.1678C>A (p.Leu560Ile) c.1585C>A (p.Leu529Ile) c.1078C>A (p.Leu360Ile) | |
19 | g.4816659G>A | CA505174407 | TICAM1 | c.1719C>T (p.Tyr573=) c.1302C>T (p.Tyr434=) c.1677C>T (p.Tyr559=) c.1584C>T (p.Tyr528=) c.1077C>T (p.Tyr359=) | |
19 | g.4816659G>C | CA403488980 | TICAM1 | c.1719C>G (p.Tyr573Ter) c.1302C>G (p.Tyr434Ter) c.1677C>G (p.Tyr559Ter) c.1584C>G (p.Tyr528Ter) c.1077C>G (p.Tyr359Ter) | |
19 | g.4816659G>T | CA403488979 | TICAM1 | c.1719C>A (p.Tyr573Ter) c.1302C>A (p.Tyr434Ter) c.1677C>A (p.Tyr559Ter) c.1584C>A (p.Tyr528Ter) c.1077C>A (p.Tyr359Ter) | |
19 | g.4816660T>A | CA403488981 | TICAM1 | c.1718A>T (p.Tyr573Phe) c.1301A>T (p.Tyr434Phe) c.1676A>T (p.Tyr559Phe) c.1583A>T (p.Tyr528Phe) c.1076A>T (p.Tyr359Phe) | |
19 | g.4816660T>C | CA403488982 | TICAM1 | c.1718A>G (p.Tyr573Cys) c.1301A>G (p.Tyr434Cys) c.1676A>G (p.Tyr559Cys) c.1583A>G (p.Tyr528Cys) c.1076A>G (p.Tyr359Cys) | gnomAD v4 |
19 | g.4816660T>G | CA403488983 | TICAM1 | c.1718A>C (p.Tyr573Ser) c.1301A>C (p.Tyr434Ser) c.1676A>C (p.Tyr559Ser) c.1583A>C (p.Tyr528Ser) c.1076A>C (p.Tyr359Ser) | |
19 | g.4816661A= | CA2319604969 | TICAM1 | c.1717T= (p.Tyr573=) c.1300T= (p.Tyr434=) c.1675T= (p.Tyr559=) c.1582T= (p.Tyr528=) c.1075T= (p.Tyr359=) | |
19 | g.4816661A>C | CA403488984 | TICAM1 | c.1717T>G (p.Tyr573Asp) c.1300T>G (p.Tyr434Asp) c.1675T>G (p.Tyr559Asp) c.1582T>G (p.Tyr528Asp) c.1075T>G (p.Tyr359Asp) | |
19 | g.4816661A>G | CA403488985 | TICAM1 | c.1717T>C (p.Tyr573His) c.1300T>C (p.Tyr434His) c.1675T>C (p.Tyr559His) c.1582T>C (p.Tyr528His) c.1075T>C (p.Tyr359His) | dbSNP gnomAD v4 |
19 | g.4816661A>T | CA403488986 | TICAM1 | c.1717T>A (p.Tyr573Asn) c.1300T>A (p.Tyr434Asn) c.1675T>A (p.Tyr559Asn) c.1582T>A (p.Tyr528Asn) c.1075T>A (p.Tyr359Asn) | |
19 | g.4816662G>A | CA505174416 | TICAM1 | c.1716C>T (p.Ala572=) c.1299C>T (p.Ala433=) c.1674C>T (p.Ala558=) c.1581C>T (p.Ala527=) c.1074C>T (p.Ala358=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816662G>C | CA505174417 | TICAM1 | c.1716C>G (p.Ala572=) c.1299C>G (p.Ala433=) c.1674C>G (p.Ala558=) c.1581C>G (p.Ala527=) c.1074C>G (p.Ala358=) | |
19 | g.4816662G= | CA2319604970 | TICAM1 | c.1716C= (p.Ala572=) c.1299C= (p.Ala433=) c.1674C= (p.Ala558=) c.1581C= (p.Ala527=) c.1074C= (p.Ala358=) | |
19 | g.4816662G>T | CA505174418 | TICAM1 | c.1716C>A (p.Ala572=) c.1299C>A (p.Ala433=) c.1674C>A (p.Ala558=) c.1581C>A (p.Ala527=) c.1074C>A (p.Ala358=) | |
19 | g.4816663G>A | CA403488987 | TICAM1 | c.1715C>T (p.Ala572Val) c.1298C>T (p.Ala433Val) c.1673C>T (p.Ala558Val) c.1580C>T (p.Ala527Val) c.1073C>T (p.Ala358Val) | |
19 | g.4816663G>C | CA403488988 | TICAM1 | c.1715C>G (p.Ala572Gly) c.1298C>G (p.Ala433Gly) c.1673C>G (p.Ala558Gly) c.1580C>G (p.Ala527Gly) c.1073C>G (p.Ala358Gly) | |
19 | g.4816663G>T | CA403488989 | TICAM1 | c.1715C>A (p.Ala572Asp) c.1298C>A (p.Ala433Asp) c.1673C>A (p.Ala558Asp) c.1580C>A (p.Ala527Asp) c.1073C>A (p.Ala358Asp) | |
19 | g.4816664C>A | CA403488990 | TICAM1 | c.1714G>T (p.Ala572Ser) c.1297G>T (p.Ala433Ser) c.1672G>T (p.Ala558Ser) c.1579G>T (p.Ala527Ser) c.1072G>T (p.Ala358Ser) | |
19 | g.4816664C>G | CA403488991 | TICAM1 | c.1714G>C (p.Ala572Pro) c.1297G>C (p.Ala433Pro) c.1672G>C (p.Ala558Pro) c.1579G>C (p.Ala527Pro) c.1072G>C (p.Ala358Pro) | |
19 | g.4816664C>T | CA403488992 | TICAM1 | c.1714G>A (p.Ala572Thr) c.1297G>A (p.Ala433Thr) c.1672G>A (p.Ala558Thr) c.1579G>A (p.Ala527Thr) c.1072G>A (p.Ala358Thr) | |
19 | g.4816665T>A | CA505174421 | TICAM1 | c.1713A>T (p.Ser571=) c.1296A>T (p.Ser432=) c.1671A>T (p.Ser557=) c.1578A>T (p.Ser526=) c.1071A>T (p.Ser357=) | |
19 | g.4816665T>C | CA505174422 | TICAM1 | c.1713A>G (p.Ser571=) c.1296A>G (p.Ser432=) c.1671A>G (p.Ser557=) c.1578A>G (p.Ser526=) c.1071A>G (p.Ser357=) | gnomAD v4 |
19 | g.4816665T>G | CA505174425 | TICAM1 | c.1713A>C (p.Ser571=) c.1296A>C (p.Ser432=) c.1671A>C (p.Ser557=) c.1578A>C (p.Ser526=) c.1071A>C (p.Ser357=) | |
19 | g.4816666G>A | CA403488994 | TICAM1 | c.1712C>T (p.Ser571Leu) c.1295C>T (p.Ser432Leu) c.1670C>T (p.Ser557Leu) c.1577C>T (p.Ser526Leu) c.1070C>T (p.Ser357Leu) | |
19 | g.4816666G>C | CA403488995 | TICAM1 | c.1712C>G (p.Ser571Ter) c.1295C>G (p.Ser432Ter) c.1670C>G (p.Ser557Ter) c.1577C>G (p.Ser526Ter) c.1070C>G (p.Ser357Ter) | |
19 | g.4816666G>T | CA403488993 | TICAM1 | c.1712C>A (p.Ser571Ter) c.1295C>A (p.Ser432Ter) c.1670C>A (p.Ser557Ter) c.1577C>A (p.Ser526Ter) c.1070C>A (p.Ser357Ter) | |
19 | g.4816666dup | CA2839287452 | TICAM1 | c.1712dup (p.Ala572SerfsTer?) c.1295dup (p.Ala433SerfsTer?) c.1670dup (p.Ala558SerfsTer?) c.1577dup (p.Ala527SerfsTer?) c.1070dup (p.Ala358SerfsTer?) | |
19 | g.4816667A>C | CA403488996 | TICAM1 | c.1711T>G (p.Ser571Ala) c.1294T>G (p.Ser432Ala) c.1669T>G (p.Ser557Ala) c.1576T>G (p.Ser526Ala) c.1069T>G (p.Ser357Ala) | |
19 | g.4816667A>G | CA403488997 | TICAM1 | c.1711T>C (p.Ser571Pro) c.1294T>C (p.Ser432Pro) c.1669T>C (p.Ser557Pro) c.1576T>C (p.Ser526Pro) c.1069T>C (p.Ser357Pro) | |
19 | g.4816667A>T | CA403488998 | TICAM1 | c.1711T>A (p.Ser571Thr) c.1294T>A (p.Ser432Thr) c.1669T>A (p.Ser557Thr) c.1576T>A (p.Ser526Thr) c.1069T>A (p.Ser357Thr) | |
19 | g.4816668G>A | CA505174430 | TICAM1 | c.1710C>T (p.Tyr570=) c.1293C>T (p.Tyr431=) c.1668C>T (p.Tyr556=) c.1575C>T (p.Tyr525=) c.1068C>T (p.Tyr356=) | |
19 | g.4816668G>C | CA403488999 | TICAM1 | c.1710C>G (p.Tyr570Ter) c.1293C>G (p.Tyr431Ter) c.1668C>G (p.Tyr556Ter) c.1575C>G (p.Tyr525Ter) c.1068C>G (p.Tyr356Ter) | |
19 | g.4816668G>T | CA403489000 | TICAM1 | c.1710C>A (p.Tyr570Ter) c.1293C>A (p.Tyr431Ter) c.1668C>A (p.Tyr556Ter) c.1575C>A (p.Tyr525Ter) c.1068C>A (p.Tyr356Ter) | |
19 | g.4816669T>A | CA403489003 | TICAM1 | c.1709A>T (p.Tyr570Phe) c.1292A>T (p.Tyr431Phe) c.1667A>T (p.Tyr556Phe) c.1574A>T (p.Tyr525Phe) c.1067A>T (p.Tyr356Phe) | |
19 | g.4816669T>C | CA403489002 | TICAM1 | c.1709A>G (p.Tyr570Cys) c.1292A>G (p.Tyr431Cys) c.1667A>G (p.Tyr556Cys) c.1574A>G (p.Tyr525Cys) c.1067A>G (p.Tyr356Cys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816669T>G | CA403489001 | TICAM1 | c.1709A>C (p.Tyr570Ser) c.1292A>C (p.Tyr431Ser) c.1667A>C (p.Tyr556Ser) c.1574A>C (p.Tyr525Ser) c.1067A>C (p.Tyr356Ser) | |
19 | g.4816669T= | CA2319604971 | TICAM1 | c.1709A= (p.Tyr570=) c.1292A= (p.Tyr431=) c.1667A= (p.Tyr556=) c.1574A= (p.Tyr525=) c.1067A= (p.Tyr356=) | |
19 | g.4816670A= | CA2319604972 | TICAM1 | c.1708T= (p.Tyr570=) c.1291T= (p.Tyr431=) c.1666T= (p.Tyr556=) c.1573T= (p.Tyr525=) c.1066T= (p.Tyr356=) | |
19 | g.4816670A>C | CA403489004 | TICAM1 | c.1708T>G (p.Tyr570Asp) c.1291T>G (p.Tyr431Asp) c.1666T>G (p.Tyr556Asp) c.1573T>G (p.Tyr525Asp) c.1066T>G (p.Tyr356Asp) | |
19 | g.4816670A>G | CA403489005 | TICAM1 | c.1708T>C (p.Tyr570His) c.1291T>C (p.Tyr431His) c.1666T>C (p.Tyr556His) c.1573T>C (p.Tyr525His) c.1066T>C (p.Tyr356His) | dbSNP gnomAD v2 |
19 | g.4816670A>T | CA403489006 | TICAM1 | c.1708T>A (p.Tyr570Asn) c.1291T>A (p.Tyr431Asn) c.1666T>A (p.Tyr556Asn) c.1573T>A (p.Tyr525Asn) c.1066T>A (p.Tyr356Asn) | |
19 | g.4816671G>A | CA505174434 | TICAM1 | c.1707C>T (p.Ala569=) c.1290C>T (p.Ala430=) c.1665C>T (p.Ala555=) c.1572C>T (p.Ala524=) c.1065C>T (p.Ala355=) | ClinVar dbSNP |
19 | g.4816671G>C | CA505174436 | TICAM1 | c.1707C>G (p.Ala569=) c.1290C>G (p.Ala430=) c.1665C>G (p.Ala555=) c.1572C>G (p.Ala524=) c.1065C>G (p.Ala355=) | gnomAD v4 |
19 | g.4816671G>T | CA505174437 | TICAM1 | c.1707C>A (p.Ala569=) c.1290C>A (p.Ala430=) c.1665C>A (p.Ala555=) c.1572C>A (p.Ala524=) c.1065C>A (p.Ala355=) | |
19 | g.4816672G>A | CA403489007 | TICAM1 | c.1706C>T (p.Ala569Val) c.1289C>T (p.Ala430Val) c.1664C>T (p.Ala555Val) c.1571C>T (p.Ala524Val) c.1064C>T (p.Ala355Val) | |
19 | g.4816672G>C | CA403489008 | TICAM1 | c.1706C>G (p.Ala569Gly) c.1289C>G (p.Ala430Gly) c.1664C>G (p.Ala555Gly) c.1571C>G (p.Ala524Gly) c.1064C>G (p.Ala355Gly) | |
19 | g.4816672G>T | CA403489009 | TICAM1 | c.1706C>A (p.Ala569Asp) c.1289C>A (p.Ala430Asp) c.1664C>A (p.Ala555Asp) c.1571C>A (p.Ala524Asp) c.1064C>A (p.Ala355Asp) | |
19 | g.4816673C>A | CA403489010 | TICAM1 | c.1705G>T (p.Ala569Ser) c.1288G>T (p.Ala430Ser) c.1663G>T (p.Ala555Ser) c.1570G>T (p.Ala524Ser) c.1063G>T (p.Ala355Ser) | |
19 | g.4816673C>G | CA403489012 | TICAM1 | c.1705G>C (p.Ala569Pro) c.1288G>C (p.Ala430Pro) c.1663G>C (p.Ala555Pro) c.1570G>C (p.Ala524Pro) c.1063G>C (p.Ala355Pro) | |
19 | g.4816673C>T | CA403489011 | TICAM1 | c.1705G>A (p.Ala569Thr) c.1288G>A (p.Ala430Thr) c.1663G>A (p.Ala555Thr) c.1570G>A (p.Ala524Thr) c.1063G>A (p.Ala355Thr) | |
19 | g.4816674T>A | CA505174441 | TICAM1 | c.1704A>T (p.Ala568=) c.1287A>T (p.Ala429=) c.1662A>T (p.Ala554=) c.1569A>T (p.Ala523=) c.1062A>T (p.Ala354=) | |
19 | g.4816674T>C | CA505174442 | TICAM1 | c.1704A>G (p.Ala568=) c.1287A>G (p.Ala429=) c.1662A>G (p.Ala554=) c.1569A>G (p.Ala523=) c.1062A>G (p.Ala354=) | |
19 | g.4816674T>G | CA505174443 | TICAM1 | c.1704A>C (p.Ala568=) c.1287A>C (p.Ala429=) c.1662A>C (p.Ala554=) c.1569A>C (p.Ala523=) c.1062A>C (p.Ala354=) | |
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 |