Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.4816527G>A | CA505174140 | TICAM1 | c.1851C>T (p.Ala617=) c.1434C>T (p.Ala478=) c.1809C>T (p.Ala603=) c.1716C>T (p.Ala572=) c.1209C>T (p.Ala403=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816527G>C | CA505174141 | TICAM1 | c.1851C>G (p.Ala617=) c.1434C>G (p.Ala478=) c.1809C>G (p.Ala603=) c.1716C>G (p.Ala572=) c.1209C>G (p.Ala403=) | gnomAD v4 |
19 | g.4816527G= | CA2319604912 | TICAM1 | c.1851C= (p.Ala617=) c.1434C= (p.Ala478=) c.1809C= (p.Ala603=) c.1716C= (p.Ala572=) c.1209C= (p.Ala403=) | |
19 | g.4816527G>T | CA505174142 | TICAM1 | c.1851C>A (p.Ala617=) c.1434C>A (p.Ala478=) c.1809C>A (p.Ala603=) c.1716C>A (p.Ala572=) c.1209C>A (p.Ala403=) | gnomAD v4 |
19 | g.4816528G>A | CA403488689 | TICAM1 | c.1850C>T (p.Ala617Val) c.1433C>T (p.Ala478Val) c.1808C>T (p.Ala603Val) c.1715C>T (p.Ala572Val) c.1208C>T (p.Ala403Val) | gnomAD v4 |
19 | g.4816528G>C | CA403488690 | TICAM1 | c.1850C>G (p.Ala617Gly) c.1433C>G (p.Ala478Gly) c.1808C>G (p.Ala603Gly) c.1715C>G (p.Ala572Gly) c.1208C>G (p.Ala403Gly) | |
19 | g.4816528G>T | CA403488691 | TICAM1 | c.1850C>A (p.Ala617Asp) c.1433C>A (p.Ala478Asp) c.1808C>A (p.Ala603Asp) c.1715C>A (p.Ala572Asp) c.1208C>A (p.Ala403Asp) | |
19 | g.4816529C>A | CA403488692 | TICAM1 | c.1849G>T (p.Ala617Ser) c.1432G>T (p.Ala478Ser) c.1807G>T (p.Ala603Ser) c.1714G>T (p.Ala572Ser) c.1207G>T (p.Ala403Ser) | |
19 | g.4816529C>G | CA403488693 | TICAM1 | c.1849G>C (p.Ala617Pro) c.1432G>C (p.Ala478Pro) c.1807G>C (p.Ala603Pro) c.1714G>C (p.Ala572Pro) c.1207G>C (p.Ala403Pro) | |
19 | g.4816529C>T | CA403488694 | TICAM1 | c.1849G>A (p.Ala617Thr) c.1432G>A (p.Ala478Thr) c.1807G>A (p.Ala603Thr) c.1714G>A (p.Ala572Thr) c.1207G>A (p.Ala403Thr) | |
19 | g.4816530T>A | CA505174148 | TICAM1 | c.1848A>T (p.Gly616=) c.1431A>T (p.Gly477=) c.1806A>T (p.Gly602=) c.1713A>T (p.Gly571=) c.1206A>T (p.Gly402=) | |
19 | g.4816530T>C | CA505174146 | TICAM1 | c.1848A>G (p.Gly616=) c.1431A>G (p.Gly477=) c.1806A>G (p.Gly602=) c.1713A>G (p.Gly571=) c.1206A>G (p.Gly402=) | |
19 | g.4816530T>G | CA505174147 | TICAM1 | c.1848A>C (p.Gly616=) c.1431A>C (p.Gly477=) c.1806A>C (p.Gly602=) c.1713A>C (p.Gly571=) c.1206A>C (p.Gly402=) | |
19 | g.4816530T= | CA2319604913 | TICAM1 | c.1848A= (p.Gly616=) c.1431A= (p.Gly477=) c.1806A= (p.Gly602=) c.1713A= (p.Gly571=) c.1206A= (p.Gly402=) | |
19 | g.4816531C>A | CA403488695 | TICAM1 | c.1847G>T (p.Gly616Val) c.1430G>T (p.Gly477Val) c.1805G>T (p.Gly602Val) c.1712G>T (p.Gly571Val) c.1205G>T (p.Gly402Val) | dbSNP |
19 | g.4816531C= | CA2319604914 | TICAM1 | c.1847G= (p.Gly616=) c.1430G= (p.Gly477=) c.1805G= (p.Gly602=) c.1712G= (p.Gly571=) c.1205G= (p.Gly402=) | |
19 | g.4816531C>G | CA403488696 | TICAM1 | c.1847G>C (p.Gly616Ala) c.1430G>C (p.Gly477Ala) c.1805G>C (p.Gly602Ala) c.1712G>C (p.Gly571Ala) c.1205G>C (p.Gly402Ala) | |
19 | g.4816531C>T | CA403488697 | TICAM1 | c.1847G>A (p.Gly616Glu) c.1430G>A (p.Gly477Glu) c.1805G>A (p.Gly602Glu) c.1712G>A (p.Gly571Glu) c.1205G>A (p.Gly402Glu) | |
19 | g.4816533dup | CA631717166 | TICAM1 | c.1847dup (p.Ala617SerfsTer?) c.1430dup (p.Ala478SerfsTer?) c.1805dup (p.Ala603SerfsTer?) c.1712dup (p.Ala572SerfsTer?) c.1205dup (p.Ala403SerfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816532C>A | CA403488698 | TICAM1 | c.1846G>T (p.Gly616Ter) c.1429G>T (p.Gly477Ter) c.1804G>T (p.Gly602Ter) c.1711G>T (p.Gly571Ter) c.1204G>T (p.Gly402Ter) | |
19 | g.4816532C>G | CA403488700 | TICAM1 | c.1846G>C (p.Gly616Arg) c.1429G>C (p.Gly477Arg) c.1804G>C (p.Gly602Arg) c.1711G>C (p.Gly571Arg) c.1204G>C (p.Gly402Arg) | |
19 | g.4816532C>T | CA403488699 | TICAM1 | c.1846G>A (p.Gly616Arg) c.1429G>A (p.Gly477Arg) c.1804G>A (p.Gly602Arg) c.1711G>A (p.Gly571Arg) c.1204G>A (p.Gly402Arg) | gnomAD v4 |
19 | g.4816533C>A | CA505174153 | TICAM1 | c.1845G>T (p.Leu615=) c.1428G>T (p.Leu476=) c.1803G>T (p.Leu601=) c.1710G>T (p.Leu570=) c.1203G>T (p.Leu401=) | |
19 | g.4816533C>G | CA505174154 | TICAM1 | c.1845G>C (p.Leu615=) c.1428G>C (p.Leu476=) c.1803G>C (p.Leu601=) c.1710G>C (p.Leu570=) c.1203G>C (p.Leu401=) | |
19 | g.4816533C>T | CA505174155 | TICAM1 | c.1845G>A (p.Leu615=) c.1428G>A (p.Leu476=) c.1803G>A (p.Leu601=) c.1710G>A (p.Leu570=) c.1203G>A (p.Leu401=) | gnomAD v4 |
19 | g.4816534A>C | CA403488701 | TICAM1 | c.1844T>G (p.Leu615Arg) c.1427T>G (p.Leu476Arg) c.1802T>G (p.Leu601Arg) c.1709T>G (p.Leu570Arg) c.1202T>G (p.Leu401Arg) | |
19 | g.4816534A>G | CA403488702 | TICAM1 | c.1844T>C (p.Leu615Pro) c.1427T>C (p.Leu476Pro) c.1802T>C (p.Leu601Pro) c.1709T>C (p.Leu570Pro) c.1202T>C (p.Leu401Pro) | |
19 | g.4816534A>T | CA403488703 | TICAM1 | c.1844T>A (p.Leu615Gln) c.1427T>A (p.Leu476Gln) c.1802T>A (p.Leu601Gln) c.1709T>A (p.Leu570Gln) c.1202T>A (p.Leu401Gln) | |
19 | g.4816535G>A | CA505174159 | TICAM1 | c.1843C>T (p.Leu615=) c.1426C>T (p.Leu476=) c.1801C>T (p.Leu601=) c.1708C>T (p.Leu570=) c.1201C>T (p.Leu401=) | gnomAD v4 |
19 | g.4816535G>C | CA403488704 | TICAM1 | c.1843C>G (p.Leu615Val) c.1426C>G (p.Leu476Val) c.1801C>G (p.Leu601Val) c.1708C>G (p.Leu570Val) c.1201C>G (p.Leu401Val) | |
19 | g.4816535G>T | CA403488705 | TICAM1 | c.1843C>A (p.Leu615Met) c.1426C>A (p.Leu476Met) c.1801C>A (p.Leu601Met) c.1708C>A (p.Leu570Met) c.1201C>A (p.Leu401Met) | |
19 | g.4816536G>A | CA505174160 | TICAM1 | c.1842C>T (p.Pro614=) c.1425C>T (p.Pro475=) c.1800C>T (p.Pro600=) c.1707C>T (p.Pro569=) c.1200C>T (p.Pro400=) | gnomAD v4 |
19 | g.4816536G>C | CA9105057 | TICAM1 | c.1842C>G (p.Pro614=) c.1425C>G (p.Pro475=) c.1800C>G (p.Pro600=) c.1707C>G (p.Pro569=) c.1200C>G (p.Pro400=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816536G= | CA2319604915 | TICAM1 | c.1842C= (p.Pro614=) c.1425C= (p.Pro475=) c.1800C= (p.Pro600=) c.1707C= (p.Pro569=) c.1200C= (p.Pro400=) | |
19 | g.4816536G>T | CA505174162 | TICAM1 | c.1842C>A (p.Pro614=) c.1425C>A (p.Pro475=) c.1800C>A (p.Pro600=) c.1707C>A (p.Pro569=) c.1200C>A (p.Pro400=) | COSMIC |
19 | g.4816537G>A | CA403488706 | TICAM1 | c.1841C>T (p.Pro614Leu) c.1424C>T (p.Pro475Leu) c.1799C>T (p.Pro600Leu) c.1706C>T (p.Pro569Leu) c.1199C>T (p.Pro400Leu) | |
19 | g.4816537G>C | CA403488707 | TICAM1 | c.1841C>G (p.Pro614Arg) c.1424C>G (p.Pro475Arg) c.1799C>G (p.Pro600Arg) c.1706C>G (p.Pro569Arg) c.1199C>G (p.Pro400Arg) | |
19 | g.4816537G>T | CA403488708 | TICAM1 | c.1841C>A (p.Pro614His) c.1424C>A (p.Pro475His) c.1799C>A (p.Pro600His) c.1706C>A (p.Pro569His) c.1199C>A (p.Pro400His) | |
19 | g.4816538G>A | CA403488709 | TICAM1 | c.1840C>T (p.Pro614Ser) c.1423C>T (p.Pro475Ser) c.1798C>T (p.Pro600Ser) c.1705C>T (p.Pro569Ser) c.1198C>T (p.Pro400Ser) | |
19 | g.4816538G>C | CA403488710 | TICAM1 | c.1840C>G (p.Pro614Ala) c.1423C>G (p.Pro475Ala) c.1798C>G (p.Pro600Ala) c.1705C>G (p.Pro569Ala) c.1198C>G (p.Pro400Ala) | |
19 | g.4816538G>T | CA403488711 | TICAM1 | c.1840C>A (p.Pro614Thr) c.1423C>A (p.Pro475Thr) c.1798C>A (p.Pro600Thr) c.1705C>A (p.Pro569Thr) c.1198C>A (p.Pro400Thr) | |
19 | g.4816539C>A | CA9105058 | TICAM1 | c.1839G>T (p.Val613=) c.1422G>T (p.Val474=) c.1797G>T (p.Val599=) c.1704G>T (p.Val568=) c.1197G>T (p.Val399=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816539C= | CA2319604916 | TICAM1 | c.1839G= (p.Val613=) c.1422G= (p.Val474=) c.1797G= (p.Val599=) c.1704G= (p.Val568=) c.1197G= (p.Val399=) | |
19 | g.4816539C>G | CA505174165 | TICAM1 | c.1839G>C (p.Val613=) c.1422G>C (p.Val474=) c.1797G>C (p.Val599=) c.1704G>C (p.Val568=) c.1197G>C (p.Val399=) | |
19 | g.4816539C>T | CA505174166 | TICAM1 | c.1839G>A (p.Val613=) c.1422G>A (p.Val474=) c.1797G>A (p.Val599=) c.1704G>A (p.Val568=) c.1197G>A (p.Val399=) | |
19 | g.4816540A>C | CA403488714 | TICAM1 | c.1838T>G (p.Val613Gly) c.1421T>G (p.Val474Gly) c.1796T>G (p.Val599Gly) c.1703T>G (p.Val568Gly) c.1196T>G (p.Val399Gly) | |
19 | g.4816540A>G | CA403488712 | TICAM1 | c.1838T>C (p.Val613Ala) c.1421T>C (p.Val474Ala) c.1796T>C (p.Val599Ala) c.1703T>C (p.Val568Ala) c.1196T>C (p.Val399Ala) | |
19 | g.4816540A>T | CA403488713 | TICAM1 | c.1838T>A (p.Val613Glu) c.1421T>A (p.Val474Glu) c.1796T>A (p.Val599Glu) c.1703T>A (p.Val568Glu) c.1196T>A (p.Val399Glu) | |
19 | g.4816541C>A | CA403488715 | TICAM1 | c.1837G>T (p.Val613Leu) c.1420G>T (p.Val474Leu) c.1795G>T (p.Val599Leu) c.1702G>T (p.Val568Leu) c.1195G>T (p.Val399Leu) | |
19 | g.4816541C>G | CA403488716 | TICAM1 | c.1837G>C (p.Val613Leu) c.1420G>C (p.Val474Leu) c.1795G>C (p.Val599Leu) c.1702G>C (p.Val568Leu) c.1195G>C (p.Val399Leu) | |
19 | g.4816541C>T | CA403488717 | TICAM1 | c.1837G>A (p.Val613Met) c.1420G>A (p.Val474Met) c.1795G>A (p.Val599Met) c.1702G>A (p.Val568Met) c.1195G>A (p.Val399Met) | |
19 | g.4816542C>A | CA403488718 | TICAM1 | c.1836G>T (p.Gln612His) c.1419G>T (p.Gln473His) c.1794G>T (p.Gln598His) c.1701G>T (p.Gln567His) c.1194G>T (p.Gln398His) | |
19 | g.4816542C>G | CA403488719 | TICAM1 | c.1836G>C (p.Gln612His) c.1419G>C (p.Gln473His) c.1794G>C (p.Gln598His) c.1701G>C (p.Gln567His) c.1194G>C (p.Gln398His) | gnomAD v4 |
19 | g.4816542C>T | CA505174169 | TICAM1 | c.1836G>A (p.Gln612=) c.1419G>A (p.Gln473=) c.1794G>A (p.Gln598=) c.1701G>A (p.Gln567=) c.1194G>A (p.Gln398=) | gnomAD v4 |
19 | g.4816543T>A | CA403488720 | TICAM1 | c.1835A>T (p.Gln612Leu) c.1418A>T (p.Gln473Leu) c.1793A>T (p.Gln598Leu) c.1700A>T (p.Gln567Leu) c.1193A>T (p.Gln398Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816543T>C | CA403488721 | TICAM1 | c.1835A>G (p.Gln612Arg) c.1418A>G (p.Gln473Arg) c.1793A>G (p.Gln598Arg) c.1700A>G (p.Gln567Arg) c.1193A>G (p.Gln398Arg) | |
19 | g.4816543T>G | CA403488722 | TICAM1 | c.1835A>C (p.Gln612Pro) c.1418A>C (p.Gln473Pro) c.1793A>C (p.Gln598Pro) c.1700A>C (p.Gln567Pro) c.1193A>C (p.Gln398Pro) | |
19 | g.4816543T= | CA2319604917 | TICAM1 | c.1835A= (p.Gln612=) c.1418A= (p.Gln473=) c.1793A= (p.Gln598=) c.1700A= (p.Gln567=) c.1193A= (p.Gln398=) | |
19 | g.4816544G>A | CA403488723 | TICAM1 | c.1834C>T (p.Gln612Ter) c.1417C>T (p.Gln473Ter) c.1792C>T (p.Gln598Ter) c.1699C>T (p.Gln567Ter) c.1192C>T (p.Gln398Ter) | |
19 | g.4816544G>C | CA403488724 | TICAM1 | c.1834C>G (p.Gln612Glu) c.1417C>G (p.Gln473Glu) c.1792C>G (p.Gln598Glu) c.1699C>G (p.Gln567Glu) c.1192C>G (p.Gln398Glu) | |
19 | g.4816544G>T | CA403488725 | TICAM1 | c.1834C>A (p.Gln612Lys) c.1417C>A (p.Gln473Lys) c.1792C>A (p.Gln598Lys) c.1699C>A (p.Gln567Lys) c.1192C>A (p.Gln398Lys) | gnomAD v4 COSMIC |
19 | g.4816545G>A | CA505174173 | TICAM1 | c.1833C>T (p.Gly611=) c.1416C>T (p.Gly472=) c.1791C>T (p.Gly597=) c.1698C>T (p.Gly566=) c.1191C>T (p.Gly397=) | |
19 | g.4816545G>C | CA505174174 | TICAM1 | c.1833C>G (p.Gly611=) c.1416C>G (p.Gly472=) c.1791C>G (p.Gly597=) c.1698C>G (p.Gly566=) c.1191C>G (p.Gly397=) | |
19 | g.4816545G>T | CA505174175 | TICAM1 | c.1833C>A (p.Gly611=) c.1416C>A (p.Gly472=) c.1791C>A (p.Gly597=) c.1698C>A (p.Gly566=) c.1191C>A (p.Gly397=) | gnomAD v4 |
19 | g.4816545_4816546delinsGC | CA2319604918 | TICAM1 | c.1832_1833delinsGC (p.Gly611=) c.1415_1416delinsGC (p.Gly472=) c.1790_1791delinsGC (p.Gly597=) c.1697_1698delinsGC (p.Gly566=) c.1190_1191delinsGC (p.Gly397=) | |
19 | g.4816546C>A | CA403488726 | TICAM1 | c.1832G>T (p.Gly611Val) c.1415G>T (p.Gly472Val) c.1790G>T (p.Gly597Val) c.1697G>T (p.Gly566Val) c.1190G>T (p.Gly397Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816546C= | CA2319604920 | TICAM1 | c.1832G= (p.Gly611=) c.1415G= (p.Gly472=) c.1790G= (p.Gly597=) c.1697G= (p.Gly566=) c.1190G= (p.Gly397=) | |
19 | g.4816546C>G | CA403488727 | TICAM1 | c.1832G>C (p.Gly611Ala) c.1415G>C (p.Gly472Ala) c.1790G>C (p.Gly597Ala) c.1697G>C (p.Gly566Ala) c.1190G>C (p.Gly397Ala) | |
19 | g.4816546C>T | CA9105059 | TICAM1 | c.1832G>A (p.Gly611Asp) c.1415G>A (p.Gly472Asp) c.1790G>A (p.Gly597Asp) c.1697G>A (p.Gly566Asp) c.1190G>A (p.Gly397Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816550dup | CA2319604919 | TICAM1 | c.1832dup (p.Gln612ProfsTer?) c.1415dup (p.Gln473ProfsTer?) c.1790dup (p.Gln598ProfsTer?) c.1697dup (p.Gln567ProfsTer?) c.1190dup (p.Gln398ProfsTer?) | dbSNP gnomAD v4 |
19 | g.4816550del | CA631717167 | TICAM1 | c.1832del (p.Gly611AlafsTer?) c.1415del (p.Gly472AlafsTer?) c.1790del (p.Gly597AlafsTer?) c.1697del (p.Gly566AlafsTer?) c.1190del (p.Gly397AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816549_4816550del | CA2576579901 | TICAM1 | c.1831_1832del (p.Gly611ProfsTer?) c.1414_1415del (p.Gly472ProfsTer?) c.1789_1790del (p.Gly597ProfsTer?) c.1696_1697del (p.Gly566ProfsTer?) c.1189_1190del (p.Gly397ProfsTer?) | |
19 | g.4816547C>A | CA403488728 | TICAM1 | c.1831G>T (p.Gly611Cys) c.1414G>T (p.Gly472Cys) c.1789G>T (p.Gly597Cys) c.1696G>T (p.Gly566Cys) c.1189G>T (p.Gly397Cys) | |
19 | g.4816547C= | CA2319604921 | TICAM1 | c.1831G= (p.Gly611=) c.1414G= (p.Gly472=) c.1789G= (p.Gly597=) c.1696G= (p.Gly566=) c.1189G= (p.Gly397=) | |
19 | g.4816547C>G | CA403488729 | TICAM1 | c.1831G>C (p.Gly611Arg) c.1414G>C (p.Gly472Arg) c.1789G>C (p.Gly597Arg) c.1696G>C (p.Gly566Arg) c.1189G>C (p.Gly397Arg) | dbSNP |
19 | g.4816547C>T | CA9105060 | TICAM1 | c.1831G>A (p.Gly611Ser) c.1414G>A (p.Gly472Ser) c.1789G>A (p.Gly597Ser) c.1696G>A (p.Gly566Ser) c.1189G>A (p.Gly397Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816548C>A | CA505174177 | TICAM1 | c.1830G>T (p.Gly610=) c.1413G>T (p.Gly471=) c.1788G>T (p.Gly596=) c.1695G>T (p.Gly565=) c.1188G>T (p.Gly396=) | |
19 | g.4816548C= | CA2319604922 | TICAM1 | c.1830G= (p.Gly610=) c.1413G= (p.Gly471=) c.1788G= (p.Gly596=) c.1695G= (p.Gly565=) c.1188G= (p.Gly396=) | |
19 | g.4816548C>G | CA505174179 | TICAM1 | c.1830G>C (p.Gly610=) c.1413G>C (p.Gly471=) c.1788G>C (p.Gly596=) c.1695G>C (p.Gly565=) c.1188G>C (p.Gly396=) | |
19 | g.4816548C>T | CA505174180 | TICAM1 | c.1830G>A (p.Gly610=) c.1413G>A (p.Gly471=) c.1788G>A (p.Gly596=) c.1695G>A (p.Gly565=) c.1188G>A (p.Gly396=) | dbSNP gnomAD v4 |
19 | g.4816549C>A | CA403488730 | TICAM1 | c.1829G>T (p.Gly610Val) c.1412G>T (p.Gly471Val) c.1787G>T (p.Gly596Val) c.1694G>T (p.Gly565Val) c.1187G>T (p.Gly396Val) | COSMIC |
19 | g.4816549C>G | CA403488731 | TICAM1 | c.1829G>C (p.Gly610Ala) c.1412G>C (p.Gly471Ala) c.1787G>C (p.Gly596Ala) c.1694G>C (p.Gly565Ala) c.1187G>C (p.Gly396Ala) | |
19 | g.4816549C>T | CA403488732 | TICAM1 | c.1829G>A (p.Gly610Glu) c.1412G>A (p.Gly471Glu) c.1787G>A (p.Gly596Glu) c.1694G>A (p.Gly565Glu) c.1187G>A (p.Gly396Glu) | |
19 | g.4816550C>A | CA403488735 | TICAM1 | c.1828G>T (p.Gly610Trp) c.1411G>T (p.Gly471Trp) c.1786G>T (p.Gly596Trp) c.1693G>T (p.Gly565Trp) c.1186G>T (p.Gly396Trp) | |
19 | g.4816550C= | CA2319604923 | TICAM1 | c.1828G= (p.Gly610=) c.1411G= (p.Gly471=) c.1786G= (p.Gly596=) c.1693G= (p.Gly565=) c.1186G= (p.Gly396=) | |
19 | g.4816550C>G | CA403488733 | TICAM1 | c.1828G>C (p.Gly610Arg) c.1411G>C (p.Gly471Arg) c.1786G>C (p.Gly596Arg) c.1693G>C (p.Gly565Arg) c.1186G>C (p.Gly396Arg) | |
19 | g.4816550C>T | CA403488734 | TICAM1 | c.1828G>A (p.Gly610Arg) c.1411G>A (p.Gly471Arg) c.1786G>A (p.Gly596Arg) c.1693G>A (p.Gly565Arg) c.1186G>A (p.Gly396Arg) | dbSNP |
19 | g.4816551A= | CA2319604924 | TICAM1 | c.1827T= (p.Phe609=) c.1410T= (p.Phe470=) c.1785T= (p.Phe595=) c.1692T= (p.Phe564=) c.1185T= (p.Phe395=) | |
19 | g.4816551A>C | CA9105061 | TICAM1 | c.1827T>G (p.Phe609Leu) c.1410T>G (p.Phe470Leu) c.1785T>G (p.Phe595Leu) c.1692T>G (p.Phe564Leu) c.1185T>G (p.Phe395Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816551A>G | CA505174183 | TICAM1 | c.1827T>C (p.Phe609=) c.1410T>C (p.Phe470=) c.1785T>C (p.Phe595=) c.1692T>C (p.Phe564=) c.1185T>C (p.Phe395=) | |
19 | g.4816551A>T | CA403488736 | TICAM1 | c.1827T>A (p.Phe609Leu) c.1410T>A (p.Phe470Leu) c.1785T>A (p.Phe595Leu) c.1692T>A (p.Phe564Leu) c.1185T>A (p.Phe395Leu) | |
19 | g.4816553dup | CA2842302125 | TICAM1 | c.1827dup (p.Gly610TrpfsTer?) c.1410dup (p.Gly471TrpfsTer?) c.1785dup (p.Gly596TrpfsTer?) c.1692dup (p.Gly565TrpfsTer?) c.1185dup (p.Gly396TrpfsTer?) | |
19 | g.4816552A>C | CA403488737 | TICAM1 | c.1826T>G (p.Phe609Cys) c.1409T>G (p.Phe470Cys) c.1784T>G (p.Phe595Cys) c.1691T>G (p.Phe564Cys) c.1184T>G (p.Phe395Cys) | |
19 | g.4816552A>G | CA403488738 | TICAM1 | c.1826T>C (p.Phe609Ser) c.1409T>C (p.Phe470Ser) c.1784T>C (p.Phe595Ser) c.1691T>C (p.Phe564Ser) c.1184T>C (p.Phe395Ser) | |
19 | g.4816552A>T | CA403488739 | TICAM1 | c.1826T>A (p.Phe609Tyr) c.1409T>A (p.Phe470Tyr) c.1784T>A (p.Phe595Tyr) c.1691T>A (p.Phe564Tyr) c.1184T>A (p.Phe395Tyr) | |
19 | g.4816553A>C | CA403488742 | TICAM1 | c.1825T>G (p.Phe609Val) c.1408T>G (p.Phe470Val) c.1783T>G (p.Phe595Val) c.1690T>G (p.Phe564Val) c.1183T>G (p.Phe395Val) | |
19 | g.4816553A>G | CA403488740 | TICAM1 | c.1825T>C (p.Phe609Leu) c.1408T>C (p.Phe470Leu) c.1783T>C (p.Phe595Leu) c.1690T>C (p.Phe564Leu) c.1183T>C (p.Phe395Leu) | |
19 | g.4816553A>T | CA403488741 | TICAM1 | c.1825T>A (p.Phe609Ile) c.1408T>A (p.Phe470Ile) c.1783T>A (p.Phe595Ile) c.1690T>A (p.Phe564Ile) c.1183T>A (p.Phe395Ile) | |
19 | g.4816554G>A | CA505174190 | TICAM1 | c.1824C>T (p.Pro608=) c.1407C>T (p.Pro469=) c.1782C>T (p.Pro594=) c.1689C>T (p.Pro563=) c.1182C>T (p.Pro394=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816554G>C | CA505174191 | TICAM1 | c.1824C>G (p.Pro608=) c.1407C>G (p.Pro469=) c.1782C>G (p.Pro594=) c.1689C>G (p.Pro563=) c.1182C>G (p.Pro394=) | |
19 | g.4816554G= | CA2319604925 | TICAM1 | c.1824C= (p.Pro608=) c.1407C= (p.Pro469=) c.1782C= (p.Pro594=) c.1689C= (p.Pro563=) c.1182C= (p.Pro394=) | |
19 | g.4816554G>T | CA505174192 | TICAM1 | c.1824C>A (p.Pro608=) c.1407C>A (p.Pro469=) c.1782C>A (p.Pro594=) c.1689C>A (p.Pro563=) c.1182C>A (p.Pro394=) | |
19 | g.4816555G>A | CA403488743 | TICAM1 | c.1823C>T (p.Pro608Leu) c.1406C>T (p.Pro469Leu) c.1781C>T (p.Pro594Leu) c.1688C>T (p.Pro563Leu) c.1181C>T (p.Pro394Leu) | |
19 | g.4816555G>C | CA403488744 | TICAM1 | c.1823C>G (p.Pro608Arg) c.1406C>G (p.Pro469Arg) c.1781C>G (p.Pro594Arg) c.1688C>G (p.Pro563Arg) c.1181C>G (p.Pro394Arg) | |
19 | g.4816555G>T | CA403488745 | TICAM1 | c.1823C>A (p.Pro608His) c.1406C>A (p.Pro469His) c.1781C>A (p.Pro594His) c.1688C>A (p.Pro563His) c.1181C>A (p.Pro394His) | |
19 | g.4816556G>A | CA403488746 | TICAM1 | c.1822C>T (p.Pro608Ser) c.1405C>T (p.Pro469Ser) c.1780C>T (p.Pro594Ser) c.1687C>T (p.Pro563Ser) c.1180C>T (p.Pro394Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.4816556G>C | CA403488747 | TICAM1 | c.1822C>G (p.Pro608Ala) c.1405C>G (p.Pro469Ala) c.1780C>G (p.Pro594Ala) c.1687C>G (p.Pro563Ala) c.1180C>G (p.Pro394Ala) | |
19 | g.4816556G= | CA2319604926 | TICAM1 | c.1822C= (p.Pro608=) c.1405C= (p.Pro469=) c.1780C= (p.Pro594=) c.1687C= (p.Pro563=) c.1180C= (p.Pro394=) | |
19 | g.4816556G>T | CA403488749 | TICAM1 | c.1822C>A (p.Pro608Thr) c.1405C>A (p.Pro469Thr) c.1780C>A (p.Pro594Thr) c.1687C>A (p.Pro563Thr) c.1180C>A (p.Pro394Thr) | |
19 | g.4816557C>A | CA403488750 | TICAM1 | c.1821G>T (p.Met607Ile) c.1404G>T (p.Met468Ile) c.1779G>T (p.Met593Ile) c.1686G>T (p.Met562Ile) c.1179G>T (p.Met393Ile) | |
19 | g.4816557C= | CA2319604927 | TICAM1 | c.1821G= (p.Met607=) c.1404G= (p.Met468=) c.1779G= (p.Met593=) c.1686G= (p.Met562=) c.1179G= (p.Met393=) | |
19 | g.4816557C>G | CA403488751 | TICAM1 | c.1821G>C (p.Met607Ile) c.1404G>C (p.Met468Ile) c.1779G>C (p.Met593Ile) c.1686G>C (p.Met562Ile) c.1179G>C (p.Met393Ile) | |
19 | g.4816557C>T | CA403488752 | TICAM1 | c.1821G>A (p.Met607Ile) c.1404G>A (p.Met468Ile) c.1779G>A (p.Met593Ile) c.1686G>A (p.Met562Ile) c.1179G>A (p.Met393Ile) | dbSNP gnomAD v4 |
19 | g.4816558A>C | CA403488753 | TICAM1 | c.1820T>G (p.Met607Arg) c.1403T>G (p.Met468Arg) c.1778T>G (p.Met593Arg) c.1685T>G (p.Met562Arg) c.1178T>G (p.Met393Arg) | |
19 | g.4816558A>G | CA403488754 | TICAM1 | c.1820T>C (p.Met607Thr) c.1403T>C (p.Met468Thr) c.1778T>C (p.Met593Thr) c.1685T>C (p.Met562Thr) c.1178T>C (p.Met393Thr) | gnomAD v4 |
19 | g.4816558A>T | CA403488755 | TICAM1 | c.1820T>A (p.Met607Lys) c.1403T>A (p.Met468Lys) c.1778T>A (p.Met593Lys) c.1685T>A (p.Met562Lys) c.1178T>A (p.Met393Lys) | gnomAD v4 |
19 | g.4816559T>A | CA403488756 | TICAM1 | c.1819A>T (p.Met607Leu) c.1402A>T (p.Met468Leu) c.1777A>T (p.Met593Leu) c.1684A>T (p.Met562Leu) c.1177A>T (p.Met393Leu) | |
19 | g.4816559T>C | CA403488758 | TICAM1 | c.1819A>G (p.Met607Val) c.1402A>G (p.Met468Val) c.1777A>G (p.Met593Val) c.1684A>G (p.Met562Val) c.1177A>G (p.Met393Val) | |
19 | g.4816559T>G | CA403488757 | TICAM1 | c.1819A>C (p.Met607Leu) c.1402A>C (p.Met468Leu) c.1777A>C (p.Met593Leu) c.1684A>C (p.Met562Leu) c.1177A>C (p.Met393Leu) | |
19 | g.4816560T>A | CA505174199 | TICAM1 | c.1818A>T (p.Arg606=) c.1401A>T (p.Arg467=) c.1776A>T (p.Arg592=) c.1683A>T (p.Arg561=) c.1176A>T (p.Arg392=) | |
19 | g.4816560T>C | CA505174200 | TICAM1 | c.1818A>G (p.Arg606=) c.1401A>G (p.Arg467=) c.1776A>G (p.Arg592=) c.1683A>G (p.Arg561=) c.1176A>G (p.Arg392=) | |
19 | g.4816560T>G | CA505174201 | TICAM1 | c.1818A>C (p.Arg606=) c.1401A>C (p.Arg467=) c.1776A>C (p.Arg592=) c.1683A>C (p.Arg561=) c.1176A>C (p.Arg392=) | dbSNP |
19 | g.4816560T= | CA2319604928 | TICAM1 | c.1818A= (p.Arg606=) c.1401A= (p.Arg467=) c.1776A= (p.Arg592=) c.1683A= (p.Arg561=) c.1176A= (p.Arg392=) | |
19 | g.4816561C>A | CA403488759 | TICAM1 | c.1817G>T (p.Arg606Leu) c.1400G>T (p.Arg467Leu) c.1775G>T (p.Arg592Leu) c.1682G>T (p.Arg561Leu) c.1175G>T (p.Arg392Leu) | gnomAD v4 |
19 | g.4816561C= | CA2319604929 | TICAM1 | c.1817G= (p.Arg606=) c.1400G= (p.Arg467=) c.1775G= (p.Arg592=) c.1682G= (p.Arg561=) c.1175G= (p.Arg392=) | |
19 | g.4816561C>G | CA403488760 | TICAM1 | c.1817G>C (p.Arg606Pro) c.1400G>C (p.Arg467Pro) c.1775G>C (p.Arg592Pro) c.1682G>C (p.Arg561Pro) c.1175G>C (p.Arg392Pro) | |
19 | g.4816561C>T | CA9105062 | TICAM1 | c.1817G>A (p.Arg606Gln) c.1400G>A (p.Arg467Gln) c.1775G>A (p.Arg592Gln) c.1682G>A (p.Arg561Gln) c.1175G>A (p.Arg392Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816562G>A | CA403488761 | TICAM1 | c.1816C>T (p.Arg606Ter) c.1399C>T (p.Arg467Ter) c.1774C>T (p.Arg592Ter) c.1681C>T (p.Arg561Ter) c.1174C>T (p.Arg392Ter) | dbSNP gnomAD v4 COSMIC |
19 | g.4816562G>C | CA403488762 | TICAM1 | c.1816C>G (p.Arg606Gly) c.1399C>G (p.Arg467Gly) c.1774C>G (p.Arg592Gly) c.1681C>G (p.Arg561Gly) c.1174C>G (p.Arg392Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816562G= | CA2319604930 | TICAM1 | c.1816C= (p.Arg606=) c.1399C= (p.Arg467=) c.1774C= (p.Arg592=) c.1681C= (p.Arg561=) c.1174C= (p.Arg392=) | |
19 | g.4816562G>T | CA505174202 | TICAM1 | c.1816C>A (p.Arg606=) c.1399C>A (p.Arg467=) c.1774C>A (p.Arg592=) c.1681C>A (p.Arg561=) c.1174C>A (p.Arg392=) | |
19 | g.4816563A>C | CA505174203 | TICAM1 | c.1815T>G (p.Ala605=) c.1398T>G (p.Ala466=) c.1773T>G (p.Ala591=) c.1680T>G (p.Ala560=) c.1173T>G (p.Ala391=) | |
19 | g.4816563A>G | CA505174205 | TICAM1 | c.1815T>C (p.Ala605=) c.1398T>C (p.Ala466=) c.1773T>C (p.Ala591=) c.1680T>C (p.Ala560=) c.1173T>C (p.Ala391=) | |
19 | g.4816563A>T | CA505174206 | TICAM1 | c.1815T>A (p.Ala605=) c.1398T>A (p.Ala466=) c.1773T>A (p.Ala591=) c.1680T>A (p.Ala560=) c.1173T>A (p.Ala391=) | |
19 | g.4816564G>A | CA403488763 | TICAM1 | c.1814C>T (p.Ala605Val) c.1397C>T (p.Ala466Val) c.1772C>T (p.Ala591Val) c.1679C>T (p.Ala560Val) c.1172C>T (p.Ala391Val) | dbSNP |
19 | g.4816564G>C | CA403488764 | TICAM1 | c.1814C>G (p.Ala605Gly) c.1397C>G (p.Ala466Gly) c.1772C>G (p.Ala591Gly) c.1679C>G (p.Ala560Gly) c.1172C>G (p.Ala391Gly) | |
19 | g.4816564G= | CA2319604931 | TICAM1 | c.1814C= (p.Ala605=) c.1397C= (p.Ala466=) c.1772C= (p.Ala591=) c.1679C= (p.Ala560=) c.1172C= (p.Ala391=) | |
19 | g.4816564G>T | CA403488765 | TICAM1 | c.1814C>A (p.Ala605Asp) c.1397C>A (p.Ala466Asp) c.1772C>A (p.Ala591Asp) c.1679C>A (p.Ala560Asp) c.1172C>A (p.Ala391Asp) | |
19 | g.4816565C>A | CA403488767 | TICAM1 | c.1813G>T (p.Ala605Ser) c.1396G>T (p.Ala466Ser) c.1771G>T (p.Ala591Ser) c.1678G>T (p.Ala560Ser) c.1171G>T (p.Ala391Ser) | gnomAD v4 |
19 | g.4816565C= | CA2319604932 | TICAM1 | c.1813G= (p.Ala605=) c.1396G= (p.Ala466=) c.1771G= (p.Ala591=) c.1678G= (p.Ala560=) c.1171G= (p.Ala391=) | |
19 | g.4816565C>G | CA403488768 | TICAM1 | c.1813G>C (p.Ala605Pro) c.1396G>C (p.Ala466Pro) c.1771G>C (p.Ala591Pro) c.1678G>C (p.Ala560Pro) c.1171G>C (p.Ala391Pro) | gnomAD v4 |
19 | g.4816565C>T | CA403488769 | TICAM1 | c.1813G>A (p.Ala605Thr) c.1396G>A (p.Ala466Thr) c.1771G>A (p.Ala591Thr) c.1678G>A (p.Ala560Thr) c.1171G>A (p.Ala391Thr) | ClinVar dbSNP gnomAD v4 |
19 | g.4816568dup | CA2586031833 | TICAM1 | c.1813dup (p.Ala605GlyfsTer?) c.1396dup (p.Ala466GlyfsTer?) c.1771dup (p.Ala591GlyfsTer?) c.1678dup (p.Ala560GlyfsTer?) c.1171dup (p.Ala391GlyfsTer?) | gnomAD v4 |
19 | g.4816566C>A | CA505174209 | TICAM1 | c.1812G>T (p.Gly604=) c.1395G>T (p.Gly465=) c.1770G>T (p.Gly590=) c.1677G>T (p.Gly559=) c.1170G>T (p.Gly390=) | gnomAD v4 |
19 | g.4816566C>G | CA505174210 | TICAM1 | c.1812G>C (p.Gly604=) c.1395G>C (p.Gly465=) c.1770G>C (p.Gly590=) c.1677G>C (p.Gly559=) c.1170G>C (p.Gly390=) | |
19 | g.4816566C>T | CA505174211 | TICAM1 | c.1812G>A (p.Gly604=) c.1395G>A (p.Gly465=) c.1770G>A (p.Gly590=) c.1677G>A (p.Gly559=) c.1170G>A (p.Gly390=) | gnomAD v4 |
19 | g.4816567C>A | CA403488772 | TICAM1 | c.1811G>T (p.Gly604Val) c.1394G>T (p.Gly465Val) c.1769G>T (p.Gly590Val) c.1676G>T (p.Gly559Val) c.1169G>T (p.Gly390Val) | |
19 | g.4816567C>G | CA403488771 | TICAM1 | c.1811G>C (p.Gly604Ala) c.1394G>C (p.Gly465Ala) c.1769G>C (p.Gly590Ala) c.1676G>C (p.Gly559Ala) c.1169G>C (p.Gly390Ala) | |
19 | g.4816567C>T | CA403488770 | TICAM1 | c.1811G>A (p.Gly604Glu) c.1394G>A (p.Gly465Glu) c.1769G>A (p.Gly590Glu) c.1676G>A (p.Gly559Glu) c.1169G>A (p.Gly390Glu) | |
19 | g.4816568C>A | CA403488773 | TICAM1 | c.1810G>T (p.Gly604Trp) c.1393G>T (p.Gly465Trp) c.1768G>T (p.Gly590Trp) c.1675G>T (p.Gly559Trp) c.1168G>T (p.Gly390Trp) | |
19 | g.4816568C= | CA2319604933 | TICAM1 | c.1810G= (p.Gly604=) c.1393G= (p.Gly465=) c.1768G= (p.Gly590=) c.1675G= (p.Gly559=) c.1168G= (p.Gly390=) | |
19 | g.4816568C>G | CA403488774 | TICAM1 | c.1810G>C (p.Gly604Arg) c.1393G>C (p.Gly465Arg) c.1768G>C (p.Gly590Arg) c.1675G>C (p.Gly559Arg) c.1168G>C (p.Gly390Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816568C>T | CA403488775 | TICAM1 | c.1810G>A (p.Gly604Arg) c.1393G>A (p.Gly465Arg) c.1768G>A (p.Gly590Arg) c.1675G>A (p.Gly559Arg) c.1168G>A (p.Gly390Arg) | |
19 | g.4816569A= | CA2319604934 | TICAM1 | c.1809T= (p.Tyr603=) c.1392T= (p.Tyr464=) c.1767T= (p.Tyr589=) c.1674T= (p.Tyr558=) c.1167T= (p.Tyr389=) | |
19 | g.4816569A>C | CA403488776 | TICAM1 | c.1809T>G (p.Tyr603Ter) c.1392T>G (p.Tyr464Ter) c.1767T>G (p.Tyr589Ter) c.1674T>G (p.Tyr558Ter) c.1167T>G (p.Tyr389Ter) | ClinVar dbSNP |
19 | g.4816569A>G | CA505174215 | TICAM1 | c.1809T>C (p.Tyr603=) c.1392T>C (p.Tyr464=) c.1767T>C (p.Tyr589=) c.1674T>C (p.Tyr558=) c.1167T>C (p.Tyr389=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816569A>T | CA403488777 | TICAM1 | c.1809T>A (p.Tyr603Ter) c.1392T>A (p.Tyr464Ter) c.1767T>A (p.Tyr589Ter) c.1674T>A (p.Tyr558Ter) c.1167T>A (p.Tyr389Ter) | |
19 | g.4816570T>A | CA403488778 | TICAM1 | c.1808A>T (p.Tyr603Phe) c.1391A>T (p.Tyr464Phe) c.1766A>T (p.Tyr589Phe) c.1673A>T (p.Tyr558Phe) c.1166A>T (p.Tyr389Phe) | |
19 | g.4816570T>C | CA403488779 | TICAM1 | c.1808A>G (p.Tyr603Cys) c.1391A>G (p.Tyr464Cys) c.1766A>G (p.Tyr589Cys) c.1673A>G (p.Tyr558Cys) c.1166A>G (p.Tyr389Cys) | gnomAD v4 |
19 | g.4816570T>G | CA9105063 | TICAM1 | c.1808A>C (p.Tyr603Ser) c.1391A>C (p.Tyr464Ser) c.1766A>C (p.Tyr589Ser) c.1673A>C (p.Tyr558Ser) c.1166A>C (p.Tyr389Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816570T= | CA2319604935 | TICAM1 | c.1808A= (p.Tyr603=) c.1391A= (p.Tyr464=) c.1766A= (p.Tyr589=) c.1673A= (p.Tyr558=) c.1166A= (p.Tyr389=) | |
19 | g.4816571A= | CA2319604936 | TICAM1 | c.1807T= (p.Tyr603=) c.1390T= (p.Tyr464=) c.1765T= (p.Tyr589=) c.1672T= (p.Tyr558=) c.1165T= (p.Tyr389=) | |
19 | g.4816571A>C | CA403488780 | TICAM1 | c.1807T>G (p.Tyr603Asp) c.1390T>G (p.Tyr464Asp) c.1765T>G (p.Tyr589Asp) c.1672T>G (p.Tyr558Asp) c.1165T>G (p.Tyr389Asp) | |
19 | g.4816571A>G | CA403488781 | TICAM1 | c.1807T>C (p.Tyr603His) c.1390T>C (p.Tyr464His) c.1765T>C (p.Tyr589His) c.1672T>C (p.Tyr558His) c.1165T>C (p.Tyr389His) | dbSNP |
19 | g.4816571A>T | CA403488782 | TICAM1 | c.1807T>A (p.Tyr603Asn) c.1390T>A (p.Tyr464Asn) c.1765T>A (p.Tyr589Asn) c.1672T>A (p.Tyr558Asn) c.1165T>A (p.Tyr389Asn) | |
19 | g.4816572G>A | CA505174217 | TICAM1 | c.1806C>T (p.Pro602=) c.1389C>T (p.Pro463=) c.1764C>T (p.Pro588=) c.1671C>T (p.Pro557=) c.1164C>T (p.Pro388=) | |
19 | g.4816572G>C | CA505174218 | TICAM1 | c.1806C>G (p.Pro602=) c.1389C>G (p.Pro463=) c.1764C>G (p.Pro588=) c.1671C>G (p.Pro557=) c.1164C>G (p.Pro388=) | gnomAD v4 |
19 | g.4816572G>T | CA505174220 | TICAM1 | c.1806C>A (p.Pro602=) c.1389C>A (p.Pro463=) c.1764C>A (p.Pro588=) c.1671C>A (p.Pro557=) c.1164C>A (p.Pro388=) | gnomAD v4 |
19 | g.4816573G>A | CA403488785 | TICAM1 | c.1805C>T (p.Pro602Leu) c.1388C>T (p.Pro463Leu) c.1763C>T (p.Pro588Leu) c.1670C>T (p.Pro557Leu) c.1163C>T (p.Pro388Leu) | |
19 | g.4816573G>C | CA403488784 | TICAM1 | c.1805C>G (p.Pro602Arg) c.1388C>G (p.Pro463Arg) c.1763C>G (p.Pro588Arg) c.1670C>G (p.Pro557Arg) c.1163C>G (p.Pro388Arg) | |
19 | g.4816573G>T | CA403488783 | TICAM1 | c.1805C>A (p.Pro602His) c.1388C>A (p.Pro463His) c.1763C>A (p.Pro588His) c.1670C>A (p.Pro557His) c.1163C>A (p.Pro388His) | |
19 | g.4816574G>A | CA403488786 | TICAM1 | c.1804C>T (p.Pro602Ser) c.1387C>T (p.Pro463Ser) c.1762C>T (p.Pro588Ser) c.1669C>T (p.Pro557Ser) c.1162C>T (p.Pro388Ser) | |
19 | g.4816574G>C | CA403488787 | TICAM1 | c.1804C>G (p.Pro602Ala) c.1387C>G (p.Pro463Ala) c.1762C>G (p.Pro588Ala) c.1669C>G (p.Pro557Ala) c.1162C>G (p.Pro388Ala) | |
19 | g.4816574G= | CA2319604937 | TICAM1 | c.1804C= (p.Pro602=) c.1387C= (p.Pro463=) c.1762C= (p.Pro588=) c.1669C= (p.Pro557=) c.1162C= (p.Pro388=) | |
19 | g.4816574G>T | CA9105064 | TICAM1 | c.1804C>A (p.Pro602Thr) c.1387C>A (p.Pro463Thr) c.1762C>A (p.Pro588Thr) c.1669C>A (p.Pro557Thr) c.1162C>A (p.Pro388Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816575C>A | CA505174226 | TICAM1 | c.1803G>T (p.Ala601=) c.1386G>T (p.Ala462=) c.1761G>T (p.Ala587=) c.1668G>T (p.Ala556=) c.1161G>T (p.Ala387=) | |
19 | g.4816575C= | CA2319604938 | TICAM1 | c.1803G= (p.Ala601=) c.1386G= (p.Ala462=) c.1761G= (p.Ala587=) c.1668G= (p.Ala556=) c.1161G= (p.Ala387=) | |
19 | g.4816575C>G | CA505174227 | TICAM1 | c.1803G>C (p.Ala601=) c.1386G>C (p.Ala462=) c.1761G>C (p.Ala587=) c.1668G>C (p.Ala556=) c.1161G>C (p.Ala387=) | |
19 | g.4816575C>T | CA9105065 | TICAM1 | c.1803G>A (p.Ala601=) c.1386G>A (p.Ala462=) c.1761G>A (p.Ala587=) c.1668G>A (p.Ala556=) c.1161G>A (p.Ala387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816576G>A | CA9105066 | TICAM1 | c.1802C>T (p.Ala601Val) c.1385C>T (p.Ala462Val) c.1760C>T (p.Ala587Val) c.1667C>T (p.Ala556Val) c.1160C>T (p.Ala387Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.4816576G>C | CA403488788 | TICAM1 | c.1802C>G (p.Ala601Gly) c.1385C>G (p.Ala462Gly) c.1760C>G (p.Ala587Gly) c.1667C>G (p.Ala556Gly) c.1160C>G (p.Ala387Gly) | ClinVar dbSNP gnomAD v4 |
19 | g.4816576G= | CA2319604939 | TICAM1 | c.1802C= (p.Ala601=) c.1385C= (p.Ala462=) c.1760C= (p.Ala587=) c.1667C= (p.Ala556=) c.1160C= (p.Ala387=) | |
19 | g.4816576G>T | CA403488789 | TICAM1 | c.1802C>A (p.Ala601Glu) c.1385C>A (p.Ala462Glu) c.1760C>A (p.Ala587Glu) c.1667C>A (p.Ala556Glu) c.1160C>A (p.Ala387Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816577C>A | CA403488790 | TICAM1 | c.1801G>T (p.Ala601Ser) c.1384G>T (p.Ala462Ser) c.1759G>T (p.Ala587Ser) c.1666G>T (p.Ala556Ser) c.1159G>T (p.Ala387Ser) | |
19 | g.4816577C>G | CA403488791 | TICAM1 | c.1801G>C (p.Ala601Pro) c.1384G>C (p.Ala462Pro) c.1759G>C (p.Ala587Pro) c.1666G>C (p.Ala556Pro) c.1159G>C (p.Ala387Pro) | |
19 | g.4816577C>T | CA403488793 | TICAM1 | c.1801G>A (p.Ala601Thr) c.1384G>A (p.Ala462Thr) c.1759G>A (p.Ala587Thr) c.1666G>A (p.Ala556Thr) c.1159G>A (p.Ala387Thr) | |
19 | g.4816580del | CA2576579902 | TICAM1 | c.1801del (p.Ala601ArgfsTer?) c.1384del (p.Ala462ArgfsTer?) c.1759del (p.Ala587ArgfsTer?) c.1666del (p.Ala556ArgfsTer?) c.1159del (p.Ala387ArgfsTer?) | |
19 | g.4816579_4816580del | CA2842302126 | TICAM1 | c.1800_1801del (p.Pro602LeufsTer?) c.1383_1384del (p.Pro463LeufsTer?) c.1758_1759del (p.Pro588LeufsTer?) c.1665_1666del (p.Pro557LeufsTer?) c.1158_1159del (p.Pro388LeufsTer?) | |
19 | g.4816577_4816578insA | CA2813381024 | TICAM1 | c.1800_1801insT (p.Ala601CysfsTer?) c.1383_1384insT (p.Ala462CysfsTer?) c.1758_1759insT (p.Ala587CysfsTer?) c.1665_1666insT (p.Ala556CysfsTer?) c.1158_1159insT (p.Ala387CysfsTer?) | |
19 | g.4816578C>A | CA505174237 | TICAM1 | c.1800G>T (p.Gly600=) c.1383G>T (p.Gly461=) c.1758G>T (p.Gly586=) c.1665G>T (p.Gly555=) c.1158G>T (p.Gly386=) | dbSNP |
19 | g.4816578C= | CA2319604940 | TICAM1 | c.1800G= (p.Gly600=) c.1383G= (p.Gly461=) c.1758G= (p.Gly586=) c.1665G= (p.Gly555=) c.1158G= (p.Gly386=) | |
19 | g.4816578C>G | CA505174236 | TICAM1 | c.1800G>C (p.Gly600=) c.1383G>C (p.Gly461=) c.1758G>C (p.Gly586=) c.1665G>C (p.Gly555=) c.1158G>C (p.Gly386=) | |
19 | g.4816578C>T | CA9105067 | TICAM1 | c.1800G>A (p.Gly600=) c.1383G>A (p.Gly461=) c.1758G>A (p.Gly586=) c.1665G>A (p.Gly555=) c.1158G>A (p.Gly386=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816578_4816579insGTTGGGGAGGGTTTTAGTA | CA2813381025 | TICAM1 | c.1799_1800insTACTAAAACCCTCCCCAAC (p.Ala601ThrfsTer?) c.1382_1383insTACTAAAACCCTCCCCAAC (p.Ala462ThrfsTer?) c.1757_1758insTACTAAAACCCTCCCCAAC (p.Ala587ThrfsTer?) c.1664_1665insTACTAAAACCCTCCCCAAC (p.Ala556ThrfsTer?) c.1157_1158insTACTAAAACCCTCCCCAAC (p.Ala387ThrfsTer?) | |
19 | g.4816579C>A | CA403488794 | TICAM1 | c.1799G>T (p.Gly600Val) c.1382G>T (p.Gly461Val) c.1757G>T (p.Gly586Val) c.1664G>T (p.Gly555Val) c.1157G>T (p.Gly386Val) | |
19 | g.4816579C= | CA2319604941 | TICAM1 | c.1799G= (p.Gly600=) c.1382G= (p.Gly461=) c.1757G= (p.Gly586=) c.1664G= (p.Gly555=) c.1157G= (p.Gly386=) | |
19 | g.4816579C>G | CA403488795 | TICAM1 | c.1799G>C (p.Gly600Ala) c.1382G>C (p.Gly461Ala) c.1757G>C (p.Gly586Ala) c.1664G>C (p.Gly555Ala) c.1157G>C (p.Gly386Ala) | |
19 | g.4816579C>T | CA403488796 | TICAM1 | c.1799G>A (p.Gly600Glu) c.1382G>A (p.Gly461Glu) c.1757G>A (p.Gly586Glu) c.1664G>A (p.Gly555Glu) c.1157G>A (p.Gly386Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816580C>A | CA403488797 | TICAM1 | c.1798G>T (p.Gly600Trp) c.1381G>T (p.Gly461Trp) c.1756G>T (p.Gly586Trp) c.1663G>T (p.Gly555Trp) c.1156G>T (p.Gly386Trp) | gnomAD v4 |
19 | g.4816580C= | CA2319604942 | TICAM1 | c.1798G= (p.Gly600=) c.1381G= (p.Gly461=) c.1756G= (p.Gly586=) c.1663G= (p.Gly555=) c.1156G= (p.Gly386=) | |
19 | g.4816580C>G | CA403488798 | TICAM1 | c.1798G>C (p.Gly600Arg) c.1381G>C (p.Gly461Arg) c.1756G>C (p.Gly586Arg) c.1663G>C (p.Gly555Arg) c.1156G>C (p.Gly386Arg) | |
19 | g.4816580C>T | CA403488799 | TICAM1 | c.1798G>A (p.Gly600Arg) c.1381G>A (p.Gly461Arg) c.1756G>A (p.Gly586Arg) c.1663G>A (p.Gly555Arg) c.1156G>A (p.Gly386Arg) | dbSNP |
19 | g.4816581A= | CA2319604943 | TICAM1 | c.1797T= (p.Thr599=) c.1380T= (p.Thr460=) c.1755T= (p.Thr585=) c.1662T= (p.Thr554=) c.1155T= (p.Thr385=) | |
19 | g.4816581A>C | CA9105068 | TICAM1 | c.1797T>G (p.Thr599=) c.1380T>G (p.Thr460=) c.1755T>G (p.Thr585=) c.1662T>G (p.Thr554=) c.1155T>G (p.Thr385=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816581A>G | CA505174246 | TICAM1 | c.1797T>C (p.Thr599=) c.1380T>C (p.Thr460=) c.1755T>C (p.Thr585=) c.1662T>C (p.Thr554=) c.1155T>C (p.Thr385=) | |
19 | g.4816581A>T | CA505174244 | TICAM1 | c.1797T>A (p.Thr599=) c.1380T>A (p.Thr460=) c.1755T>A (p.Thr585=) c.1662T>A (p.Thr554=) c.1155T>A (p.Thr385=) | |
19 | g.4816582G>A | CA403488800 | TICAM1 | c.1796C>T (p.Thr599Ile) c.1379C>T (p.Thr460Ile) c.1754C>T (p.Thr585Ile) c.1661C>T (p.Thr554Ile) c.1154C>T (p.Thr385Ile) | |
19 | g.4816582G>C | CA403488801 | TICAM1 | c.1796C>G (p.Thr599Ser) c.1379C>G (p.Thr460Ser) c.1754C>G (p.Thr585Ser) c.1661C>G (p.Thr554Ser) c.1154C>G (p.Thr385Ser) | dbSNP |
19 | g.4816582G= | CA2319604944 | TICAM1 | c.1796C= (p.Thr599=) c.1379C= (p.Thr460=) c.1754C= (p.Thr585=) c.1661C= (p.Thr554=) c.1154C= (p.Thr385=) | |
19 | g.4816582G>T | CA403488802 | TICAM1 | c.1796C>A (p.Thr599Asn) c.1379C>A (p.Thr460Asn) c.1754C>A (p.Thr585Asn) c.1661C>A (p.Thr554Asn) c.1154C>A (p.Thr385Asn) | |
19 | g.4816583T>A | CA403488803 | TICAM1 | c.1795A>T (p.Thr599Ser) c.1378A>T (p.Thr460Ser) c.1753A>T (p.Thr585Ser) c.1660A>T (p.Thr554Ser) c.1153A>T (p.Thr385Ser) | |
19 | g.4816583T>C | CA403488804 | TICAM1 | c.1795A>G (p.Thr599Ala) c.1378A>G (p.Thr460Ala) c.1753A>G (p.Thr585Ala) c.1660A>G (p.Thr554Ala) c.1153A>G (p.Thr385Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816583T>G | CA403488805 | TICAM1 | c.1795A>C (p.Thr599Pro) c.1378A>C (p.Thr460Pro) c.1753A>C (p.Thr585Pro) c.1660A>C (p.Thr554Pro) c.1153A>C (p.Thr385Pro) | |
19 | g.4816583T= | CA2319604945 | TICAM1 | c.1795A= (p.Thr599=) c.1378A= (p.Thr460=) c.1753A= (p.Thr585=) c.1660A= (p.Thr554=) c.1153A= (p.Thr385=) | |
19 | g.4816584C>A | CA505174252 | TICAM1 | c.1794G>T (p.Gly598=) c.1377G>T (p.Gly459=) c.1752G>T (p.Gly584=) c.1659G>T (p.Gly553=) c.1152G>T (p.Gly384=) | |
19 | g.4816584C>G | CA505174254 | TICAM1 | c.1794G>C (p.Gly598=) c.1377G>C (p.Gly459=) c.1752G>C (p.Gly584=) c.1659G>C (p.Gly553=) c.1152G>C (p.Gly384=) | |
19 | g.4816584C>T | CA505174253 | TICAM1 | c.1794G>A (p.Gly598=) c.1377G>A (p.Gly459=) c.1752G>A (p.Gly584=) c.1659G>A (p.Gly553=) c.1152G>A (p.Gly384=) | |
19 | g.4816585C>A | CA403488806 | TICAM1 | c.1793G>T (p.Gly598Val) c.1376G>T (p.Gly459Val) c.1751G>T (p.Gly584Val) c.1658G>T (p.Gly553Val) c.1151G>T (p.Gly384Val) | |
19 | g.4816585C>G | CA403488807 | TICAM1 | c.1793G>C (p.Gly598Ala) c.1376G>C (p.Gly459Ala) c.1751G>C (p.Gly584Ala) c.1658G>C (p.Gly553Ala) c.1151G>C (p.Gly384Ala) | |
19 | g.4816585C>T | CA403488808 | TICAM1 | c.1793G>A (p.Gly598Glu) c.1376G>A (p.Gly459Glu) c.1751G>A (p.Gly584Glu) c.1658G>A (p.Gly553Glu) c.1151G>A (p.Gly384Glu) | |
19 | g.4816586C>A | CA9105069 | TICAM1 | c.1792G>T (p.Gly598Trp) c.1375G>T (p.Gly459Trp) c.1750G>T (p.Gly584Trp) c.1657G>T (p.Gly553Trp) c.1150G>T (p.Gly384Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816586C= | CA2319604946 | TICAM1 | c.1792G= (p.Gly598=) c.1375G= (p.Gly459=) c.1750G= (p.Gly584=) c.1657G= (p.Gly553=) c.1150G= (p.Gly384=) | |
19 | g.4816586C>G | CA403488809 | TICAM1 | c.1792G>C (p.Gly598Arg) c.1375G>C (p.Gly459Arg) c.1750G>C (p.Gly584Arg) c.1657G>C (p.Gly553Arg) c.1150G>C (p.Gly384Arg) | |
19 | g.4816586C>T | CA403488810 | TICAM1 | c.1792G>A (p.Gly598Arg) c.1375G>A (p.Gly459Arg) c.1750G>A (p.Gly584Arg) c.1657G>A (p.Gly553Arg) c.1150G>A (p.Gly384Arg) | |
19 | g.4816587A>C | CA403488812 | TICAM1 | c.1791T>G (p.Phe597Leu) c.1374T>G (p.Phe458Leu) c.1749T>G (p.Phe583Leu) c.1656T>G (p.Phe552Leu) c.1149T>G (p.Phe383Leu) | |
19 | g.4816587A>G | CA505174262 | TICAM1 | c.1791T>C (p.Phe597=) c.1374T>C (p.Phe458=) c.1749T>C (p.Phe583=) c.1656T>C (p.Phe552=) c.1149T>C (p.Phe383=) | |
19 | g.4816587A>T | CA403488811 | TICAM1 | c.1791T>A (p.Phe597Leu) c.1374T>A (p.Phe458Leu) c.1749T>A (p.Phe583Leu) c.1656T>A (p.Phe552Leu) c.1149T>A (p.Phe383Leu) | |
19 | g.4816587_4816595dup | CA2586031834 | TICAM1 | c.1783_1791dup (p.Phe597_Gly598insMetSerPhe) c.1366_1374dup (p.Phe458_Gly459insMetSerPhe) c.1741_1749dup (p.Phe583_Gly584insMetSerPhe) c.1648_1656dup (p.Phe552_Gly553insMetSerPhe) c.1141_1149dup (p.Phe383_Gly384insMetSerPhe) | gnomAD v4 |
19 | g.4816588A>C | CA403488813 | TICAM1 | c.1790T>G (p.Phe597Cys) c.1373T>G (p.Phe458Cys) c.1748T>G (p.Phe583Cys) c.1655T>G (p.Phe552Cys) c.1148T>G (p.Phe383Cys) | |
19 | g.4816588A>G | CA403488814 | TICAM1 | c.1790T>C (p.Phe597Ser) c.1373T>C (p.Phe458Ser) c.1748T>C (p.Phe583Ser) c.1655T>C (p.Phe552Ser) c.1148T>C (p.Phe383Ser) | |
19 | g.4816588A>T | CA403488815 | TICAM1 | c.1790T>A (p.Phe597Tyr) c.1373T>A (p.Phe458Tyr) c.1748T>A (p.Phe583Tyr) c.1655T>A (p.Phe552Tyr) c.1148T>A (p.Phe383Tyr) | |
19 | g.4816589A>C | CA403488816 | TICAM1 | c.1789T>G (p.Phe597Val) c.1372T>G (p.Phe458Val) c.1747T>G (p.Phe583Val) c.1654T>G (p.Phe552Val) c.1147T>G (p.Phe383Val) | |
19 | g.4816589A>G | CA403488817 | TICAM1 | c.1789T>C (p.Phe597Leu) c.1372T>C (p.Phe458Leu) c.1747T>C (p.Phe583Leu) c.1654T>C (p.Phe552Leu) c.1147T>C (p.Phe383Leu) | |
19 | g.4816589A>T | CA403488818 | TICAM1 | c.1789T>A (p.Phe597Ile) c.1372T>A (p.Phe458Ile) c.1747T>A (p.Phe583Ile) c.1654T>A (p.Phe552Ile) c.1147T>A (p.Phe383Ile) | |
19 | g.4816590T>A | CA505174267 | TICAM1 | c.1788A>T (p.Ser596=) c.1371A>T (p.Ser457=) c.1746A>T (p.Ser582=) c.1653A>T (p.Ser551=) c.1146A>T (p.Ser382=) | |
19 | g.4816590T>C | CA9105070 | TICAM1 | c.1788A>G (p.Ser596=) c.1371A>G (p.Ser457=) c.1746A>G (p.Ser582=) c.1653A>G (p.Ser551=) c.1146A>G (p.Ser382=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816590T>G | CA505174269 | TICAM1 | c.1788A>C (p.Ser596=) c.1371A>C (p.Ser457=) c.1746A>C (p.Ser582=) c.1653A>C (p.Ser551=) c.1146A>C (p.Ser382=) | |
19 | g.4816590T= | CA2319604947 | TICAM1 | c.1788A= (p.Ser596=) c.1371A= (p.Ser457=) c.1746A= (p.Ser582=) c.1653A= (p.Ser551=) c.1146A= (p.Ser382=) | |
19 | g.4816591G>A | CA403488819 | TICAM1 | c.1787C>T (p.Ser596Leu) c.1370C>T (p.Ser457Leu) c.1745C>T (p.Ser582Leu) c.1652C>T (p.Ser551Leu) c.1145C>T (p.Ser382Leu) | dbSNP |
19 | g.4816591G>C | CA403488820 | TICAM1 | c.1787C>G (p.Ser596Ter) c.1370C>G (p.Ser457Ter) c.1745C>G (p.Ser582Ter) c.1652C>G (p.Ser551Ter) c.1145C>G (p.Ser382Ter) | |
19 | g.4816591G= | CA2319604948 | TICAM1 | c.1787C= (p.Ser596=) c.1370C= (p.Ser457=) c.1745C= (p.Ser582=) c.1652C= (p.Ser551=) c.1145C= (p.Ser382=) | |
19 | g.4816591G>T | CA403488821 | TICAM1 | c.1787C>A (p.Ser596Ter) c.1370C>A (p.Ser457Ter) c.1745C>A (p.Ser582Ter) c.1652C>A (p.Ser551Ter) c.1145C>A (p.Ser382Ter) | |
19 | g.4816592A>C | CA403488822 | TICAM1 | c.1786T>G (p.Ser596Ala) c.1369T>G (p.Ser457Ala) c.1744T>G (p.Ser582Ala) c.1651T>G (p.Ser551Ala) c.1144T>G (p.Ser382Ala) | |
19 | g.4816592A>G | CA403488823 | TICAM1 | c.1786T>C (p.Ser596Pro) c.1369T>C (p.Ser457Pro) c.1744T>C (p.Ser582Pro) c.1651T>C (p.Ser551Pro) c.1144T>C (p.Ser382Pro) | |
19 | g.4816592A>T | CA403488824 | TICAM1 | c.1786T>A (p.Ser596Thr) c.1369T>A (p.Ser457Thr) c.1744T>A (p.Ser582Thr) c.1651T>A (p.Ser551Thr) c.1144T>A (p.Ser382Thr) | |
19 | g.4816593C>A | CA403488827 | TICAM1 | c.1785G>T (p.Met595Ile) c.1368G>T (p.Met456Ile) c.1743G>T (p.Met581Ile) c.1650G>T (p.Met550Ile) c.1143G>T (p.Met381Ile) | gnomAD v4 |
19 | g.4816593C>G | CA403488825 | TICAM1 | c.1785G>C (p.Met595Ile) c.1368G>C (p.Met456Ile) c.1743G>C (p.Met581Ile) c.1650G>C (p.Met550Ile) c.1143G>C (p.Met381Ile) | |
19 | g.4816593C>T | CA403488826 | TICAM1 | c.1785G>A (p.Met595Ile) c.1368G>A (p.Met456Ile) c.1743G>A (p.Met581Ile) c.1650G>A (p.Met550Ile) c.1143G>A (p.Met381Ile) | |
19 | g.4816594A= | CA2319604949 | TICAM1 | c.1784T= (p.Met595=) c.1367T= (p.Met456=) c.1742T= (p.Met581=) c.1649T= (p.Met550=) c.1142T= (p.Met381=) | |
19 | g.4816594A>C | CA403488828 | TICAM1 | c.1784T>G (p.Met595Arg) c.1367T>G (p.Met456Arg) c.1742T>G (p.Met581Arg) c.1649T>G (p.Met550Arg) c.1142T>G (p.Met381Arg) | |
19 | g.4816594A>G | CA403488829 | TICAM1 | c.1784T>C (p.Met595Thr) c.1367T>C (p.Met456Thr) c.1742T>C (p.Met581Thr) c.1649T>C (p.Met550Thr) c.1142T>C (p.Met381Thr) | |
19 | g.4816594A>T | CA9105071 | TICAM1 | c.1784T>A (p.Met595Lys) c.1367T>A (p.Met456Lys) c.1742T>A (p.Met581Lys) c.1649T>A (p.Met550Lys) c.1142T>A (p.Met381Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816595T>A | CA9105072 | TICAM1 | c.1783A>T (p.Met595Leu) c.1366A>T (p.Met456Leu) c.1741A>T (p.Met581Leu) c.1648A>T (p.Met550Leu) c.1141A>T (p.Met381Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816595T>C | CA403488830 | TICAM1 | c.1783A>G (p.Met595Val) c.1366A>G (p.Met456Val) c.1741A>G (p.Met581Val) c.1648A>G (p.Met550Val) c.1141A>G (p.Met381Val) | dbSNP |
19 | g.4816595T>G | CA403488831 | TICAM1 | c.1783A>C (p.Met595Leu) c.1366A>C (p.Met456Leu) c.1741A>C (p.Met581Leu) c.1648A>C (p.Met550Leu) c.1141A>C (p.Met381Leu) | |
19 | g.4816595T= | CA2319604950 | TICAM1 | c.1783A= (p.Met595=) c.1366A= (p.Met456=) c.1741A= (p.Met581=) c.1648A= (p.Met550=) c.1141A= (p.Met381=) | |
19 | g.4816596G>A | CA9105073 | TICAM1 | c.1782C>T (p.His594=) c.1365C>T (p.His455=) c.1740C>T (p.His580=) c.1647C>T (p.His549=) c.1140C>T (p.His380=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816596G>C | CA403488832 | TICAM1 | c.1782C>G (p.His594Gln) c.1365C>G (p.His455Gln) c.1740C>G (p.His580Gln) c.1647C>G (p.His549Gln) c.1140C>G (p.His380Gln) | |
19 | g.4816596G= | CA2319604951 | TICAM1 | c.1782C= (p.His594=) c.1365C= (p.His455=) c.1740C= (p.His580=) c.1647C= (p.His549=) c.1140C= (p.His380=) | |
19 | g.4816596G>T | CA403488833 | TICAM1 | c.1782C>A (p.His594Gln) c.1365C>A (p.His455Gln) c.1740C>A (p.His580Gln) c.1647C>A (p.His549Gln) c.1140C>A (p.His380Gln) | |
19 | g.4816597T>A | CA403488834 | TICAM1 | c.1781A>T (p.His594Leu) c.1364A>T (p.His455Leu) c.1739A>T (p.His580Leu) c.1646A>T (p.His549Leu) c.1139A>T (p.His380Leu) | |
19 | g.4816597T>C | CA403488835 | TICAM1 | c.1781A>G (p.His594Arg) c.1364A>G (p.His455Arg) c.1739A>G (p.His580Arg) c.1646A>G (p.His549Arg) c.1139A>G (p.His380Arg) | gnomAD v4 |
19 | g.4816597T>G | CA403488836 | TICAM1 | c.1781A>C (p.His594Pro) c.1364A>C (p.His455Pro) c.1739A>C (p.His580Pro) c.1646A>C (p.His549Pro) c.1139A>C (p.His380Pro) | |
19 | g.4816598G>A | CA403488838 | TICAM1 | c.1780C>T (p.His594Tyr) c.1363C>T (p.His455Tyr) c.1738C>T (p.His580Tyr) c.1645C>T (p.His549Tyr) c.1138C>T (p.His380Tyr) | |
19 | g.4816598G>C | CA403488839 | TICAM1 | c.1780C>G (p.His594Asp) c.1363C>G (p.His455Asp) c.1738C>G (p.His580Asp) c.1645C>G (p.His549Asp) c.1138C>G (p.His380Asp) | |
19 | g.4816598G>T | CA403488837 | TICAM1 | c.1780C>A (p.His594Asn) c.1363C>A (p.His455Asn) c.1738C>A (p.His580Asn) c.1645C>A (p.His549Asn) c.1138C>A (p.His380Asn) | |
19 | g.4816599G>A | CA505174283 | TICAM1 | c.1779C>T (p.Ser593=) c.1362C>T (p.Ser454=) c.1737C>T (p.Ser579=) c.1644C>T (p.Ser548=) c.1137C>T (p.Ser379=) | |
19 | g.4816599G>C | CA403488841 | TICAM1 | c.1779C>G (p.Ser593Arg) c.1362C>G (p.Ser454Arg) c.1737C>G (p.Ser579Arg) c.1644C>G (p.Ser548Arg) c.1137C>G (p.Ser379Arg) | |
19 | g.4816599G>T | CA403488840 | TICAM1 | c.1779C>A (p.Ser593Arg) c.1362C>A (p.Ser454Arg) c.1737C>A (p.Ser579Arg) c.1644C>A (p.Ser548Arg) c.1137C>A (p.Ser379Arg) | |
19 | g.4816600C>A | CA403488842 | TICAM1 | c.1778G>T (p.Ser593Ile) c.1361G>T (p.Ser454Ile) c.1736G>T (p.Ser579Ile) c.1643G>T (p.Ser548Ile) c.1136G>T (p.Ser379Ile) | |
19 | g.4816600C>G | CA403488843 | TICAM1 | c.1778G>C (p.Ser593Thr) c.1361G>C (p.Ser454Thr) c.1736G>C (p.Ser579Thr) c.1643G>C (p.Ser548Thr) c.1136G>C (p.Ser379Thr) | |
19 | g.4816600C>T | CA403488844 | TICAM1 | c.1778G>A (p.Ser593Asn) c.1361G>A (p.Ser454Asn) c.1736G>A (p.Ser579Asn) c.1643G>A (p.Ser548Asn) c.1136G>A (p.Ser379Asn) | |
19 | g.4816601T>A | CA403488845 | TICAM1 | c.1777A>T (p.Ser593Cys) c.1360A>T (p.Ser454Cys) c.1735A>T (p.Ser579Cys) c.1642A>T (p.Ser548Cys) c.1135A>T (p.Ser379Cys) | |
19 | g.4816601T>C | CA403488846 | TICAM1 | c.1777A>G (p.Ser593Gly) c.1360A>G (p.Ser454Gly) c.1735A>G (p.Ser579Gly) c.1642A>G (p.Ser548Gly) c.1135A>G (p.Ser379Gly) | |
19 | g.4816601T>G | CA403488847 | TICAM1 | c.1777A>C (p.Ser593Arg) c.1360A>C (p.Ser454Arg) c.1735A>C (p.Ser579Arg) c.1642A>C (p.Ser548Arg) c.1135A>C (p.Ser379Arg) | |
19 | g.4816602C>A | CA505174287 | TICAM1 | c.1776G>T (p.Gly592=) c.1359G>T (p.Gly453=) c.1734G>T (p.Gly578=) c.1641G>T (p.Gly547=) c.1134G>T (p.Gly378=) | gnomAD v4 |
19 | g.4816602C>G | CA505174290 | TICAM1 | c.1776G>C (p.Gly592=) c.1359G>C (p.Gly453=) c.1734G>C (p.Gly578=) c.1641G>C (p.Gly547=) c.1134G>C (p.Gly378=) | |
19 | g.4816602C>T | CA505174291 | TICAM1 | c.1776G>A (p.Gly592=) c.1359G>A (p.Gly453=) c.1734G>A (p.Gly578=) c.1641G>A (p.Gly547=) c.1134G>A (p.Gly378=) | |
19 | g.4816603C>A | CA403488848 | TICAM1 | c.1775G>T (p.Gly592Val) c.1358G>T (p.Gly453Val) c.1733G>T (p.Gly578Val) c.1640G>T (p.Gly547Val) c.1133G>T (p.Gly378Val) | COSMIC |
19 | g.4816603C>G | CA403488849 | TICAM1 | c.1775G>C (p.Gly592Ala) c.1358G>C (p.Gly453Ala) c.1733G>C (p.Gly578Ala) c.1640G>C (p.Gly547Ala) c.1133G>C (p.Gly378Ala) | |
19 | g.4816603C>T | CA403488850 | TICAM1 | c.1775G>A (p.Gly592Glu) c.1358G>A (p.Gly453Glu) c.1733G>A (p.Gly578Glu) c.1640G>A (p.Gly547Glu) c.1133G>A (p.Gly378Glu) | |
19 | g.4816604C>A | CA403488851 | TICAM1 | c.1774G>T (p.Gly592Trp) c.1357G>T (p.Gly453Trp) c.1732G>T (p.Gly578Trp) c.1639G>T (p.Gly547Trp) c.1132G>T (p.Gly378Trp) | |
19 | g.4816604C= | CA2319604952 | TICAM1 | c.1774G= (p.Gly592=) c.1357G= (p.Gly453=) c.1732G= (p.Gly578=) c.1639G= (p.Gly547=) c.1132G= (p.Gly378=) | |
19 | g.4816604C>G | CA403488852 | TICAM1 | c.1774G>C (p.Gly592Arg) c.1357G>C (p.Gly453Arg) c.1732G>C (p.Gly578Arg) c.1639G>C (p.Gly547Arg) c.1132G>C (p.Gly378Arg) | |
19 | g.4816604C>T | CA9105074 | TICAM1 | c.1774G>A (p.Gly592Arg) c.1357G>A (p.Gly453Arg) c.1732G>A (p.Gly578Arg) c.1639G>A (p.Gly547Arg) c.1132G>A (p.Gly378Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816605A>C | CA403488853 | TICAM1 | c.1773T>G (p.Phe591Leu) c.1356T>G (p.Phe452Leu) c.1731T>G (p.Phe577Leu) c.1638T>G (p.Phe546Leu) c.1131T>G (p.Phe377Leu) | |
19 | g.4816605A>G | CA505174294 | TICAM1 | c.1773T>C (p.Phe591=) c.1356T>C (p.Phe452=) c.1731T>C (p.Phe577=) c.1638T>C (p.Phe546=) c.1131T>C (p.Phe377=) | |
19 | g.4816605A>T | CA403488854 | TICAM1 | c.1773T>A (p.Phe591Leu) c.1356T>A (p.Phe452Leu) c.1731T>A (p.Phe577Leu) c.1638T>A (p.Phe546Leu) c.1131T>A (p.Phe377Leu) | |
19 | g.4816608del | CA2842302127 | TICAM1 | c.1773del (p.Phe591LeufsTer?) c.1356del (p.Phe452LeufsTer?) c.1731del (p.Phe577LeufsTer?) c.1638del (p.Phe546LeufsTer?) c.1131del (p.Phe377LeufsTer?) | |
19 | g.4816606A>C | CA403488855 | TICAM1 | c.1772T>G (p.Phe591Cys) c.1355T>G (p.Phe452Cys) c.1730T>G (p.Phe577Cys) c.1637T>G (p.Phe546Cys) c.1130T>G (p.Phe377Cys) | |
19 | g.4816606A>G | CA403488856 | TICAM1 | c.1772T>C (p.Phe591Ser) c.1355T>C (p.Phe452Ser) c.1730T>C (p.Phe577Ser) c.1637T>C (p.Phe546Ser) c.1130T>C (p.Phe377Ser) | |
19 | g.4816606A>T | CA403488857 | TICAM1 | c.1772T>A (p.Phe591Tyr) c.1355T>A (p.Phe452Tyr) c.1730T>A (p.Phe577Tyr) c.1637T>A (p.Phe546Tyr) c.1130T>A (p.Phe377Tyr) | |
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 |
19 | g.4816622G= | CA2319604956 | TICAM1 | c.1756C= (p.Gln586=) c.1339C= (p.Gln447=) c.1714C= (p.Gln572=) c.1621C= (p.Gln541=) c.1114C= (p.Gln372=) | |
19 | g.4816622G>T | CA403488892 | TICAM1 | c.1756C>A (p.Gln586Lys) c.1339C>A (p.Gln447Lys) c.1714C>A (p.Gln572Lys) c.1621C>A (p.Gln541Lys) c.1114C>A (p.Gln372Lys) | |
19 | g.4816623C>A | CA403488893 | TICAM1 | c.1755G>T (p.Glu585Asp) c.1338G>T (p.Glu446Asp) c.1713G>T (p.Glu571Asp) c.1620G>T (p.Glu540Asp) c.1113G>T (p.Glu371Asp) | |
19 | g.4816623C= | CA2319604957 | TICAM1 | c.1755G= (p.Glu585=) c.1338G= (p.Glu446=) c.1713G= (p.Glu571=) c.1620G= (p.Glu540=) c.1113G= (p.Glu371=) | |
19 | g.4816623C>G | CA403488894 | TICAM1 | c.1755G>C (p.Glu585Asp) c.1338G>C (p.Glu446Asp) c.1713G>C (p.Glu571Asp) c.1620G>C (p.Glu540Asp) c.1113G>C (p.Glu371Asp) | |
19 | g.4816623C>T | CA505174330 | TICAM1 | c.1755G>A (p.Glu585=) c.1338G>A (p.Glu446=) c.1713G>A (p.Glu571=) c.1620G>A (p.Glu540=) c.1113G>A (p.Glu371=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816624T>A | CA403488895 | TICAM1 | c.1754A>T (p.Glu585Val) c.1337A>T (p.Glu446Val) c.1712A>T (p.Glu571Val) c.1619A>T (p.Glu540Val) c.1112A>T (p.Glu371Val) | |
19 | g.4816624T>C | CA403488896 | TICAM1 | c.1754A>G (p.Glu585Gly) c.1337A>G (p.Glu446Gly) c.1712A>G (p.Glu571Gly) c.1619A>G (p.Glu540Gly) c.1112A>G (p.Glu371Gly) | |
19 | g.4816624T>G | CA403488897 | TICAM1 | c.1754A>C (p.Glu585Ala) c.1337A>C (p.Glu446Ala) c.1712A>C (p.Glu571Ala) c.1619A>C (p.Glu540Ala) c.1112A>C (p.Glu371Ala) | |
19 | g.4816625C>A | CA403488900 | TICAM1 | c.1753G>T (p.Glu585Ter) c.1336G>T (p.Glu446Ter) c.1711G>T (p.Glu571Ter) c.1618G>T (p.Glu540Ter) c.1111G>T (p.Glu371Ter) | |
19 | g.4816625C>G | CA403488899 | TICAM1 | c.1753G>C (p.Glu585Gln) c.1336G>C (p.Glu446Gln) c.1711G>C (p.Glu571Gln) c.1618G>C (p.Glu540Gln) c.1111G>C (p.Glu371Gln) | |
19 | g.4816625C>T | CA403488898 | TICAM1 | c.1753G>A (p.Glu585Lys) c.1336G>A (p.Glu446Lys) c.1711G>A (p.Glu571Lys) c.1618G>A (p.Glu540Lys) c.1111G>A (p.Glu371Lys) | gnomAD v4 |
19 | g.4816626C>A | CA403488902 | TICAM1 | c.1752G>T (p.Met584Ile) c.1335G>T (p.Met445Ile) c.1710G>T (p.Met570Ile) c.1617G>T (p.Met539Ile) c.1110G>T (p.Met370Ile) | |
19 | g.4816626C>G | CA403488901 | TICAM1 | c.1752G>C (p.Met584Ile) c.1335G>C (p.Met445Ile) c.1710G>C (p.Met570Ile) c.1617G>C (p.Met539Ile) c.1110G>C (p.Met370Ile) | |
19 | g.4816626C>T | CA403488903 | TICAM1 | c.1752G>A (p.Met584Ile) c.1335G>A (p.Met445Ile) c.1710G>A (p.Met570Ile) c.1617G>A (p.Met539Ile) c.1110G>A (p.Met370Ile) | |
19 | g.4816627A= | CA2319604958 | TICAM1 | c.1751T= (p.Met584=) c.1334T= (p.Met445=) c.1709T= (p.Met570=) c.1616T= (p.Met539=) c.1109T= (p.Met370=) | |
19 | g.4816627A>C | CA9105077 | TICAM1 | c.1751T>G (p.Met584Arg) c.1334T>G (p.Met445Arg) c.1709T>G (p.Met570Arg) c.1616T>G (p.Met539Arg) c.1109T>G (p.Met370Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816627A>G | CA403488904 | TICAM1 | c.1751T>C (p.Met584Thr) c.1334T>C (p.Met445Thr) c.1709T>C (p.Met570Thr) c.1616T>C (p.Met539Thr) c.1109T>C (p.Met370Thr) | ClinVar dbSNP gnomAD v4 |
19 | g.4816627A>T | CA403488905 | TICAM1 | c.1751T>A (p.Met584Lys) c.1334T>A (p.Met445Lys) c.1709T>A (p.Met570Lys) c.1616T>A (p.Met539Lys) c.1109T>A (p.Met370Lys) |