Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.4816445_4816456del | CA882980637 | TICAM1 | c.1928_1939del (p.Pro643_Pro646del) c.1479+32_1480-39del (n.1479+32_1480-39del) c.1886_1897del (p.Pro629_Pro632del) c.1793_1804del (p.Pro598_Pro601del) c.1286_1297del (p.Pro429_Pro432del) | dbSNP |
19 | g.4816459_4816460insGGGGGGGGGGGG | CA992856743 | TICAM1 | c.1925_1926insCCCCCCCCCCCC (p.Pro642_Pro643insProProProPro) c.1479+29_1479+30insCCCCCCCCCCCC (n.1479+29_1479+30insCCCCCCCCCCCC) c.1883_1884insCCCCCCCCCCCC (p.Pro628_Pro629insProProProPro) c.1790_1791insCCCCCCCCCCCC (p.Pro597_Pro598insProProProPro) c.1283_1284insCCCCCCCCCCCC (p.Pro428_Pro429insProProProPro) | gnomAD v3 gnomAD v4 |
19 | g.4816459_4816460insGGGGGGGGGGGGGG | CA992856746 | TICAM1 | c.1925_1926insCCCCCCCCCCCCCC (p.Ser645ProfsTer?) c.1479+29_1479+30insCCCCCCCCCCCCCC (n.1479+29_1479+30insCCCCCCCCCCCCCC) c.1883_1884insCCCCCCCCCCCCCC (p.Ser631ProfsTer?) c.1790_1791insCCCCCCCCCCCCCC (p.Ser600ProfsTer?) c.1283_1284insCCCCCCCCCCCCCC (p.Ser431ProfsTer?) | gnomAD v3 gnomAD v4 |
19 | g.4816459_4816460insGGGGGGGGGGGGGGG | CA992856748 | TICAM1 | c.1925_1926insCCCCCCCCCCCCCCC (p.Pro642_Pro643insProProProProPro) c.1479+29_1479+30insCCCCCCCCCCCCCCC (n.1479+29_1479+30insCCCCCCCCCCCCCCC) c.1883_1884insCCCCCCCCCCCCCCC (p.Pro628_Pro629insProProProProPro) c.1790_1791insCCCCCCCCCCCCCCC (p.Pro597_Pro598insProProProProPro) c.1283_1284insCCCCCCCCCCCCCCC (p.Pro428_Pro429insProProProProPro) | gnomAD v3 gnomAD v4 |
19 | g.4816459dup | CA9105034 | TICAM1 | c.1925dup (p.Pro643ThrfsTer?) c.1479+29dup (n.1479+29dup) c.1883dup (p.Pro629ThrfsTer?) c.1790dup (p.Pro598ThrfsTer?) c.1283dup (p.Pro429ThrfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.4816458_4816459dup | CA2813381022 | TICAM1 | c.1924_1925dup (p.Pro643HisfsTer?) c.1479+28_1479+29dup (n.1479+28_1479+29dup) c.1882_1883dup (p.Pro629HisfsTer?) c.1789_1790dup (p.Pro598HisfsTer?) c.1282_1283dup (p.Pro429HisfsTer?) | |
19 | g.4816453_4816459dup | CA2813381023 | TICAM1 | c.1919_1925dup (p.Ser645ThrfsTer?) c.1479+23_1479+29dup (n.1479+23_1479+29dup) c.1877_1883dup (p.Ser631ThrfsTer?) c.1784_1790dup (p.Ser600ThrfsTer?) c.1277_1283dup (p.Ser431ThrfsTer?) | |
19 | g.4816459del | CA505174015 | TICAM1 | c.1925del (p.Pro642HisfsTer?) c.1479+29del (n.1479+29del) c.1883del (p.Pro628HisfsTer?) c.1790del (p.Pro597HisfsTer?) c.1283del (p.Pro428HisfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.4816458_4816459del | CA2842302123 | TICAM1 | c.1924_1925del (p.Pro642ThrfsTer?) c.1479+28_1479+29del (n.1479+28_1479+29del) c.1882_1883del (p.Pro628ThrfsTer?) c.1789_1790del (p.Pro597ThrfsTer?) c.1282_1283del (p.Pro428ThrfsTer?) | |
19 | g.4816456G>A | CA403488546 | TICAM1 | c.1922C>T (p.Pro641Leu) c.1479+26C>T (n.1479+26C>T) c.1880C>T (p.Pro627Leu) c.1787C>T (p.Pro596Leu) c.1280C>T (p.Pro427Leu) | gnomAD v4 |
19 | g.4816456G>C | CA403488545 | TICAM1 | c.1922C>G (p.Pro641Arg) c.1479+26C>G (n.1479+26C>G) c.1880C>G (p.Pro627Arg) c.1787C>G (p.Pro596Arg) c.1280C>G (p.Pro427Arg) | |
19 | g.4816456G>T | CA403488544 | TICAM1 | c.1922C>A (p.Pro641His) c.1479+26C>A (n.1479+26C>A) c.1880C>A (p.Pro627His) c.1787C>A (p.Pro596His) c.1280C>A (p.Pro427His) | gnomAD v4 |
19 | g.4816457G>A | CA304547019 | TICAM1 | c.1921C>T (p.Pro641Ser) c.1479+25C>T (n.1479+25C>T) c.1879C>T (p.Pro627Ser) c.1786C>T (p.Pro596Ser) c.1279C>T (p.Pro427Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816457G>C | CA403488547 | TICAM1 | c.1921C>G (p.Pro641Ala) c.1479+25C>G (n.1479+25C>G) c.1879C>G (p.Pro627Ala) c.1786C>G (p.Pro596Ala) c.1279C>G (p.Pro427Ala) | |
19 | g.4816457G= | CA2319604883 | TICAM1 | c.1921C= (p.Pro641=) c.1479+25C= (n.1479+25C=) c.1879C= (p.Pro627=) c.1786C= (p.Pro596=) c.1279C= (p.Pro427=) | |
19 | g.4816457G>T | CA403488548 | TICAM1 | c.1921C>A (p.Pro641Thr) c.1479+25C>A (n.1479+25C>A) c.1879C>A (p.Pro627Thr) c.1786C>A (p.Pro596Thr) c.1279C>A (p.Pro427Thr) | gnomAD v4 |
19 | g.4816458G>A | CA505174021 | TICAM1 | c.1920C>T (p.Thr640=) c.1479+24C>T (n.1479+24C>T) c.1878C>T (p.Thr626=) c.1785C>T (p.Thr595=) c.1278C>T (p.Thr426=) | gnomAD v4 |
19 | g.4816458G>C | CA505174022 | TICAM1 | c.1920C>G (p.Thr640=) c.1479+24C>G (n.1479+24C>G) c.1878C>G (p.Thr626=) c.1785C>G (p.Thr595=) c.1278C>G (p.Thr426=) | |
19 | g.4816458G= | CA2319604884 | TICAM1 | c.1920C= (p.Thr640=) c.1479+24C= (n.1479+24C=) c.1878C= (p.Thr626=) c.1785C= (p.Thr595=) c.1278C= (p.Thr426=) | |
19 | g.4816458G>T | CA505174023 | TICAM1 | c.1920C>A (p.Thr640=) c.1479+24C>A (n.1479+24C>A) c.1878C>A (p.Thr626=) c.1785C>A (p.Thr595=) c.1278C>A (p.Thr426=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816459G>A | CA403488549 | TICAM1 | c.1919C>T (p.Thr640Ile) c.1479+23C>T (n.1479+23C>T) c.1877C>T (p.Thr626Ile) c.1784C>T (p.Thr595Ile) c.1277C>T (p.Thr426Ile) | ClinVar dbSNP gnomAD v4 |
19 | g.4816459G>C | CA304547024 | TICAM1 | c.1919C>G (p.Thr640Ser) c.1479+23C>G (n.1479+23C>G) c.1877C>G (p.Thr626Ser) c.1784C>G (p.Thr595Ser) c.1277C>G (p.Thr426Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816459G= | CA2319604885 | TICAM1 | c.1919C= (p.Thr640=) c.1479+23C= (n.1479+23C=) c.1877C= (p.Thr626=) c.1784C= (p.Thr595=) c.1277C= (p.Thr426=) | |
19 | g.4816459G>T | CA403488550 | TICAM1 | c.1919C>A (p.Thr640Asn) c.1479+23C>A (n.1479+23C>A) c.1877C>A (p.Thr626Asn) c.1784C>A (p.Thr595Asn) c.1277C>A (p.Thr426Asn) | gnomAD v4 |
19 | g.4816460T>A | CA403488551 | TICAM1 | c.1918A>T (p.Thr640Ser) c.1479+22A>T (n.1479+22A>T) c.1876A>T (p.Thr626Ser) c.1783A>T (p.Thr595Ser) c.1276A>T (p.Thr426Ser) | |
19 | g.4816460T>C | CA403488552 | TICAM1 | c.1918A>G (p.Thr640Ala) c.1479+22A>G (n.1479+22A>G) c.1876A>G (p.Thr626Ala) c.1783A>G (p.Thr595Ala) c.1276A>G (p.Thr426Ala) | |
19 | g.4816460T>G | CA403488553 | TICAM1 | c.1918A>C (p.Thr640Pro) c.1479+22A>C (n.1479+22A>C) c.1876A>C (p.Thr626Pro) c.1783A>C (p.Thr595Pro) c.1276A>C (p.Thr426Pro) | gnomAD v3 gnomAD v4 |
19 | g.4816461G>A | CA505174025 | TICAM1 | c.1917C>T (p.Gly639=) c.1479+21C>T (n.1479+21C>T) c.1875C>T (p.Gly625=) c.1782C>T (p.Gly594=) c.1275C>T (p.Gly425=) | gnomAD v4 |
19 | g.4816461G>C | CA505174027 | TICAM1 | c.1917C>G (p.Gly639=) c.1479+21C>G (n.1479+21C>G) c.1875C>G (p.Gly625=) c.1782C>G (p.Gly594=) c.1275C>G (p.Gly425=) | |
19 | g.4816461G= | CA2319604886 | TICAM1 | c.1917C= (p.Gly639=) c.1479+21C= (n.1479+21C=) c.1875C= (p.Gly625=) c.1782C= (p.Gly594=) c.1275C= (p.Gly425=) | |
19 | g.4816461G>T | CA505174026 | TICAM1 | c.1917C>A (p.Gly639=) c.1479+21C>A (n.1479+21C>A) c.1875C>A (p.Gly625=) c.1782C>A (p.Gly594=) c.1275C>A (p.Gly425=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816462C>A | CA403488554 | TICAM1 | c.1916G>T (p.Gly639Val) c.1479+20G>T (n.1479+20G>T) c.1874G>T (p.Gly625Val) c.1781G>T (p.Gly594Val) c.1274G>T (p.Gly425Val) | gnomAD v4 |
19 | g.4816462C>G | CA403488555 | TICAM1 | c.1916G>C (p.Gly639Ala) c.1479+20G>C (n.1479+20G>C) c.1874G>C (p.Gly625Ala) c.1781G>C (p.Gly594Ala) c.1274G>C (p.Gly425Ala) | |
19 | g.4816462C>T | CA403488556 | TICAM1 | c.1916G>A (p.Gly639Asp) c.1479+20G>A (n.1479+20G>A) c.1874G>A (p.Gly625Asp) c.1781G>A (p.Gly594Asp) c.1274G>A (p.Gly425Asp) | gnomAD v4 |
19 | g.4816463C>A | CA403488557 | TICAM1 | c.1915G>T (p.Gly639Cys) c.1479+19G>T (n.1479+19G>T) c.1873G>T (p.Gly625Cys) c.1780G>T (p.Gly594Cys) c.1273G>T (p.Gly425Cys) | gnomAD v4 |
19 | g.4816463C>G | CA403488559 | TICAM1 | c.1915G>C (p.Gly639Arg) c.1479+19G>C (n.1479+19G>C) c.1873G>C (p.Gly625Arg) c.1780G>C (p.Gly594Arg) c.1273G>C (p.Gly425Arg) | |
19 | g.4816463C>T | CA403488558 | TICAM1 | c.1915G>A (p.Gly639Ser) c.1479+19G>A (n.1479+19G>A) c.1873G>A (p.Gly625Ser) c.1780G>A (p.Gly594Ser) c.1273G>A (p.Gly425Ser) | gnomAD v4 |
19 | g.4816464A>C | CA505174031 | TICAM1 | c.1914T>G (p.Ala638=) c.1479+18T>G (n.1479+18T>G) c.1872T>G (p.Ala624=) c.1779T>G (p.Ala593=) c.1272T>G (p.Ala424=) | |
19 | g.4816464A>G | CA505174032 | TICAM1 | c.1914T>C (p.Ala638=) c.1479+18T>C (n.1479+18T>C) c.1872T>C (p.Ala624=) c.1779T>C (p.Ala593=) c.1272T>C (p.Ala424=) | gnomAD v4 |
19 | g.4816464A>T | CA505174033 | TICAM1 | c.1914T>A (p.Ala638=) c.1479+18T>A (n.1479+18T>A) c.1872T>A (p.Ala624=) c.1779T>A (p.Ala593=) c.1272T>A (p.Ala424=) | |
19 | g.4816465G>A | CA9105037 | TICAM1 | c.1913C>T (p.Ala638Val) c.1479+17C>T (n.1479+17C>T) c.1871C>T (p.Ala624Val) c.1778C>T (p.Ala593Val) c.1271C>T (p.Ala424Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816465G>C | CA403488560 | TICAM1 | c.1913C>G (p.Ala638Gly) c.1479+17C>G (n.1479+17C>G) c.1871C>G (p.Ala624Gly) c.1778C>G (p.Ala593Gly) c.1271C>G (p.Ala424Gly) | dbSNP |
19 | g.4816465G= | CA2319604887 | TICAM1 | c.1913C= (p.Ala638=) c.1479+17C= (n.1479+17C=) c.1871C= (p.Ala624=) c.1778C= (p.Ala593=) c.1271C= (p.Ala424=) | |
19 | g.4816465G>T | CA403488561 | TICAM1 | c.1913C>A (p.Ala638Asp) c.1479+17C>A (n.1479+17C>A) c.1871C>A (p.Ala624Asp) c.1778C>A (p.Ala593Asp) c.1271C>A (p.Ala424Asp) | gnomAD v4 |
19 | g.4816466C>A | CA403488562 | TICAM1 | c.1912G>T (p.Ala638Ser) c.1479+16G>T (n.1479+16G>T) c.1870G>T (p.Ala624Ser) c.1777G>T (p.Ala593Ser) c.1270G>T (p.Ala424Ser) | gnomAD v4 |
19 | g.4816466C>G | CA403488563 | TICAM1 | c.1912G>C (p.Ala638Pro) c.1479+16G>C (n.1479+16G>C) c.1870G>C (p.Ala624Pro) c.1777G>C (p.Ala593Pro) c.1270G>C (p.Ala424Pro) | |
19 | g.4816466C>T | CA403488564 | TICAM1 | c.1912G>A (p.Ala638Thr) c.1479+16G>A (n.1479+16G>A) c.1870G>A (p.Ala624Thr) c.1777G>A (p.Ala593Thr) c.1270G>A (p.Ala424Thr) | gnomAD v4 |
19 | g.4816467_4816471del | CA2586031830 | TICAM1 | c.1908_1912del (p.Trp636CysfsTer?) c.1479+12_1479+16del (n.1479+12_1479+16del) c.1866_1870del (p.Trp622CysfsTer?) c.1773_1777del (p.Trp591CysfsTer?) c.1266_1270del (p.Trp422CysfsTer?) | gnomAD v4 |
19 | g.4816467C>A | CA403488566 | TICAM1 | c.1911G>T (p.Gln637His) c.1479+15G>T (n.1479+15G>T) c.1869G>T (p.Gln623His) c.1776G>T (p.Gln592His) c.1269G>T (p.Gln423His) | |
19 | g.4816467C>G | CA403488565 | TICAM1 | c.1911G>C (p.Gln637His) c.1479+15G>C (n.1479+15G>C) c.1869G>C (p.Gln623His) c.1776G>C (p.Gln592His) c.1269G>C (p.Gln423His) | |
19 | g.4816467C>T | CA505174038 | TICAM1 | c.1911G>A (p.Gln637=) c.1479+15G>A (n.1479+15G>A) c.1869G>A (p.Gln623=) c.1776G>A (p.Gln592=) c.1269G>A (p.Gln423=) | |
19 | g.4816468T>A | CA403488567 | TICAM1 | c.1910A>T (p.Gln637Leu) c.1479+14A>T (n.1479+14A>T) c.1868A>T (p.Gln623Leu) c.1775A>T (p.Gln592Leu) c.1268A>T (p.Gln423Leu) | gnomAD v4 |
19 | g.4816468T>C | CA403488568 | TICAM1 | c.1910A>G (p.Gln637Arg) c.1479+14A>G (n.1479+14A>G) c.1868A>G (p.Gln623Arg) c.1775A>G (p.Gln592Arg) c.1268A>G (p.Gln423Arg) | gnomAD v4 |
19 | g.4816468T>G | CA403488569 | TICAM1 | c.1910A>C (p.Gln637Pro) c.1479+14A>C (n.1479+14A>C) c.1868A>C (p.Gln623Pro) c.1775A>C (p.Gln592Pro) c.1268A>C (p.Gln423Pro) | |
19 | g.4816469G>A | CA403488570 | TICAM1 | c.1909C>T (p.Gln637Ter) c.1479+13C>T (n.1479+13C>T) c.1867C>T (p.Gln623Ter) c.1774C>T (p.Gln592Ter) c.1267C>T (p.Gln423Ter) | gnomAD v4 |
19 | g.4816469G>C | CA403488571 | TICAM1 | c.1909C>G (p.Gln637Glu) c.1479+13C>G (n.1479+13C>G) c.1867C>G (p.Gln623Glu) c.1774C>G (p.Gln592Glu) c.1267C>G (p.Gln423Glu) | |
19 | g.4816469G>T | CA403488572 | TICAM1 | c.1909C>A (p.Gln637Lys) c.1479+13C>A (n.1479+13C>A) c.1867C>A (p.Gln623Lys) c.1774C>A (p.Gln592Lys) c.1267C>A (p.Gln423Lys) | gnomAD v4 |
19 | g.4816470C>A | CA403488575 | TICAM1 | c.1908G>T (p.Trp636Cys) c.1479+12G>T (n.1479+12G>T) c.1866G>T (p.Trp622Cys) c.1773G>T (p.Trp591Cys) c.1266G>T (p.Trp422Cys) | gnomAD v4 |
19 | g.4816470C= | CA2319604888 | TICAM1 | c.1908G= (p.Trp636=) c.1479+12G= (n.1479+12G=) c.1866G= (p.Trp622=) c.1773G= (p.Trp591=) c.1266G= (p.Trp422=) | |
19 | g.4816470C>G | CA403488573 | TICAM1 | c.1908G>C (p.Trp636Cys) c.1479+12G>C (n.1479+12G>C) c.1866G>C (p.Trp622Cys) c.1773G>C (p.Trp591Cys) c.1266G>C (p.Trp422Cys) | |
19 | g.4816470C>T | CA403488574 | TICAM1 | c.1908G>A (p.Trp636Ter) c.1479+12G>A (n.1479+12G>A) c.1866G>A (p.Trp622Ter) c.1773G>A (p.Trp591Ter) c.1266G>A (p.Trp422Ter) | dbSNP gnomAD v4 |
19 | g.4816471C>A | CA403488576 | TICAM1 | c.1907G>T (p.Trp636Leu) c.1479+11G>T (n.1479+11G>T) c.1865G>T (p.Trp622Leu) c.1772G>T (p.Trp591Leu) c.1265G>T (p.Trp422Leu) | gnomAD v4 |
19 | g.4816471C>G | CA403488577 | TICAM1 | c.1907G>C (p.Trp636Ser) c.1479+11G>C (n.1479+11G>C) c.1865G>C (p.Trp622Ser) c.1772G>C (p.Trp591Ser) c.1265G>C (p.Trp422Ser) | gnomAD v4 |
19 | g.4816471C>T | CA403488578 | TICAM1 | c.1907G>A (p.Trp636Ter) c.1479+11G>A (n.1479+11G>A) c.1865G>A (p.Trp622Ter) c.1772G>A (p.Trp591Ter) c.1265G>A (p.Trp422Ter) | gnomAD v4 |
19 | g.4816472A>C | CA403488579 | TICAM1 | c.1906T>G (p.Trp636Gly) c.1479+10T>G (n.1479+10T>G) c.1864T>G (p.Trp622Gly) c.1771T>G (p.Trp591Gly) c.1264T>G (p.Trp422Gly) | |
19 | g.4816472A>G | CA403488580 | TICAM1 | c.1906T>C (p.Trp636Arg) c.1479+10T>C (n.1479+10T>C) c.1864T>C (p.Trp622Arg) c.1771T>C (p.Trp591Arg) c.1264T>C (p.Trp422Arg) | |
19 | g.4816472A>T | CA403488581 | TICAM1 | c.1906T>A (p.Trp636Arg) c.1479+10T>A (n.1479+10T>A) c.1864T>A (p.Trp622Arg) c.1771T>A (p.Trp591Arg) c.1264T>A (p.Trp422Arg) | |
19 | g.4816473T>A | CA9105038 | TICAM1 | c.1905A>T (p.Ala635=) c.1479+9A>T (n.1479+9A>T) c.1863A>T (p.Ala621=) c.1770A>T (p.Ala590=) c.1263A>T (p.Ala421=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816473T>C | CA505174054 | TICAM1 | c.1905A>G (p.Ala635=) c.1479+9A>G (n.1479+9A>G) c.1863A>G (p.Ala621=) c.1770A>G (p.Ala590=) c.1263A>G (p.Ala421=) | gnomAD v4 |
19 | g.4816473T>G | CA505174055 | TICAM1 | c.1905A>C (p.Ala635=) c.1479+9A>C (n.1479+9A>C) c.1863A>C (p.Ala621=) c.1770A>C (p.Ala590=) c.1263A>C (p.Ala421=) | |
19 | g.4816473T= | CA2319604889 | TICAM1 | c.1905A= (p.Ala635=) c.1479+9A= (n.1479+9A=) c.1863A= (p.Ala621=) c.1770A= (p.Ala590=) c.1263A= (p.Ala421=) | |
19 | g.4816474G>A | CA403488582 | TICAM1 | c.1904C>T (p.Ala635Val) c.1479+8C>T (n.1479+8C>T) c.1862C>T (p.Ala621Val) c.1769C>T (p.Ala590Val) c.1262C>T (p.Ala421Val) | |
19 | g.4816474G>C | CA403488583 | TICAM1 | c.1904C>G (p.Ala635Gly) c.1479+8C>G (n.1479+8C>G) c.1862C>G (p.Ala621Gly) c.1769C>G (p.Ala590Gly) c.1262C>G (p.Ala421Gly) | |
19 | g.4816474G>T | CA403488584 | TICAM1 | c.1904C>A (p.Ala635Glu) c.1479+8C>A (n.1479+8C>A) c.1862C>A (p.Ala621Glu) c.1769C>A (p.Ala590Glu) c.1262C>A (p.Ala421Glu) | |
19 | g.4816475_4816483del | CA2586031831 | TICAM1 | c.1896_1904del (p.Leu633_Ala635del) c.1479_1479+8del c.1854_1862del (p.Leu619_Ala621del) c.1761_1769del (p.Leu588_Ala590del) c.1254_1262del (p.Leu419_Ala421del) | gnomAD v4 |
19 | g.4816475C>A | CA403488585 | TICAM1 | c.1903G>T (p.Ala635Ser) c.1479+7G>T (n.1479+7G>T) c.1861G>T (p.Ala621Ser) c.1768G>T (p.Ala590Ser) c.1261G>T (p.Ala421Ser) | gnomAD v4 |
19 | g.4816475C= | CA2319604890 | TICAM1 | c.1903G= (p.Ala635=) c.1479+7G= (n.1479+7G=) c.1861G= (p.Ala621=) c.1768G= (p.Ala590=) c.1261G= (p.Ala421=) | |
19 | g.4816475C>G | CA403488586 | TICAM1 | c.1903G>C (p.Ala635Pro) c.1479+7G>C (n.1479+7G>C) c.1861G>C (p.Ala621Pro) c.1768G>C (p.Ala590Pro) c.1261G>C (p.Ala421Pro) | |
19 | g.4816475C>T | CA9105039 | TICAM1 | c.1903G>A (p.Ala635Thr) c.1479+7G>A (n.1479+7G>A) c.1861G>A (p.Ala621Thr) c.1768G>A (p.Ala590Thr) c.1261G>A (p.Ala421Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816476G>A | CA9105040 | TICAM1 | c.1902C>T (p.His634=) c.1479+6C>T (n.1479+6C>T) c.1860C>T (p.His620=) c.1767C>T (p.His589=) c.1260C>T (p.His420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816476G>C | CA9105041 | TICAM1 | c.1902C>G (p.His634Gln) c.1479+6C>G (n.1479+6C>G) c.1860C>G (p.His620Gln) c.1767C>G (p.His589Gln) c.1260C>G (p.His420Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816476G= | CA2319604891 | TICAM1 | c.1902C= (p.His634=) c.1479+6C= (n.1479+6C=) c.1860C= (p.His620=) c.1767C= (p.His589=) c.1260C= (p.His420=) | |
19 | g.4816476G>T | CA403488587 | TICAM1 | c.1902C>A (p.His634Gln) c.1479+6C>A (n.1479+6C>A) c.1860C>A (p.His620Gln) c.1767C>A (p.His589Gln) c.1260C>A (p.His420Gln) | gnomAD v4 |
19 | g.4816476_4816477delinsAA | CA645615016 | TICAM1 | c.1901_1902delinsTT (p.His634Leu) c.1479+5_1479+6delinsTT (n.1479+5_1479+6delinsTT) c.1859_1860delinsTT (p.His620Leu) c.1766_1767delinsTT (p.His589Leu) c.1259_1260delinsTT (p.His420Leu) | COSMIC |
19 | g.4816477T>A | CA403488588 | TICAM1 | c.1901A>T (p.His634Leu) c.1479+5A>T (n.1479+5A>T) c.1859A>T (p.His620Leu) c.1766A>T (p.His589Leu) c.1259A>T (p.His420Leu) | |
19 | g.4816477T>C | CA403488589 | TICAM1 | c.1901A>G (p.His634Arg) c.1479+5A>G (n.1479+5A>G) c.1859A>G (p.His620Arg) c.1766A>G (p.His589Arg) c.1259A>G (p.His420Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816477T>G | CA403488590 | TICAM1 | c.1901A>C (p.His634Pro) c.1479+5A>C (n.1479+5A>C) c.1859A>C (p.His620Pro) c.1766A>C (p.His589Pro) c.1259A>C (p.His420Pro) | |
19 | g.4816477T= | CA2319604892 | TICAM1 | c.1901A= (p.His634=) c.1479+5A= (n.1479+5A=) c.1859A= (p.His620=) c.1766A= (p.His589=) c.1259A= (p.His420=) | |
19 | g.4816478G>A | CA403488591 | TICAM1 | c.1900C>T (p.His634Tyr) c.1479+4C>T (n.1479+4C>T) c.1858C>T (p.His620Tyr) c.1765C>T (p.His589Tyr) c.1258C>T (p.His420Tyr) | gnomAD v4 |
19 | g.4816478G>C | CA403488592 | TICAM1 | c.1900C>G (p.His634Asp) c.1479+4C>G (n.1479+4C>G) c.1858C>G (p.His620Asp) c.1765C>G (p.His589Asp) c.1258C>G (p.His420Asp) | |
19 | g.4816478G>T | CA403488593 | TICAM1 | c.1900C>A (p.His634Asn) c.1479+4C>A (n.1479+4C>A) c.1858C>A (p.His620Asn) c.1765C>A (p.His589Asn) c.1258C>A (p.His420Asn) | |
19 | g.4816479C>A | CA505174059 | TICAM1 | c.1899G>T (p.Leu633=) c.1479+3G>T (n.1479+3G>T) c.1857G>T (p.Leu619=) c.1764G>T (p.Leu588=) c.1257G>T (p.Leu419=) | gnomAD v4 |
19 | g.4816479C>G | CA505174060 | TICAM1 | c.1899G>C (p.Leu633=) c.1479+3G>C (n.1479+3G>C) c.1857G>C (p.Leu619=) c.1764G>C (p.Leu588=) c.1257G>C (p.Leu419=) | gnomAD v4 |
19 | g.4816479C>T | CA505174061 | TICAM1 | c.1899G>A (p.Leu633=) c.1479+3G>A (n.1479+3G>A) c.1857G>A (p.Leu619=) c.1764G>A (p.Leu588=) c.1257G>A (p.Leu419=) | gnomAD v4 |
19 | g.4816480A>C | CA403488594 | TICAM1 | c.1898T>G (p.Leu633Arg) c.1479+2T>G (n.1479+2T>G) c.1856T>G (p.Leu619Arg) c.1763T>G (p.Leu588Arg) c.1256T>G (p.Leu419Arg) | |
19 | g.4816480A>G | CA403488595 | TICAM1 | c.1898T>C (p.Leu633Pro) c.1479+2T>C (n.1479+2T>C) c.1856T>C (p.Leu619Pro) c.1763T>C (p.Leu588Pro) c.1256T>C (p.Leu419Pro) | |
19 | g.4816480A>T | CA403488596 | TICAM1 | c.1898T>A (p.Leu633Gln) c.1479+2T>A (n.1479+2T>A) c.1856T>A (p.Leu619Gln) c.1763T>A (p.Leu588Gln) c.1256T>A (p.Leu419Gln) | gnomAD v3 gnomAD v4 |
19 | g.4816481G>A | CA403488597 | TICAM1 | c.1897C>T (p.Leu633=) c.1479+1C>T (n.1479+1C>T) c.1855C>T (p.Leu619=) c.1762C>T (p.Leu588=) c.1255C>T (p.Leu419=) | |
19 | g.4816481G>C | CA403488598 | TICAM1 | c.1897C>G (p.Leu633Val) c.1479+1C>G (n.1479+1C>G) c.1855C>G (p.Leu619Val) c.1762C>G (p.Leu588Val) c.1255C>G (p.Leu419Val) | |
19 | g.4816481G>T | CA403488599 | TICAM1 | c.1897C>A (p.Leu633Met) c.1479+1C>A (n.1479+1C>A) c.1855C>A (p.Leu619Met) c.1762C>A (p.Leu588Met) c.1255C>A (p.Leu419Met) | |
19 | g.4816482G>A | CA505174068 | TICAM1 | c.1896C>T (p.Pro632=) c.1479C>T (p.Pro493=) c.1854C>T (p.Pro618=) c.1761C>T (p.Pro587=) c.1254C>T (p.Pro418=) | |
19 | g.4816482G>C | CA505174066 | TICAM1 | c.1896C>G (p.Pro632=) c.1479C>G (p.Pro493=) c.1854C>G (p.Pro618=) c.1761C>G (p.Pro587=) c.1254C>G (p.Pro418=) | |
19 | g.4816482G>T | CA505174065 | TICAM1 | c.1896C>A (p.Pro632=) c.1479C>A (p.Pro493=) c.1854C>A (p.Pro618=) c.1761C>A (p.Pro587=) c.1254C>A (p.Pro418=) | gnomAD v4 |
19 | g.4816483G>A | CA403488602 | TICAM1 | c.1895C>T (p.Pro632Leu) c.1478C>T (p.Pro493Leu) c.1853C>T (p.Pro618Leu) c.1760C>T (p.Pro587Leu) c.1253C>T (p.Pro418Leu) | |
19 | g.4816483G>C | CA403488601 | TICAM1 | c.1895C>G (p.Pro632Arg) c.1478C>G (p.Pro493Arg) c.1853C>G (p.Pro618Arg) c.1760C>G (p.Pro587Arg) c.1253C>G (p.Pro418Arg) | gnomAD v4 |
19 | g.4816483G>T | CA403488600 | TICAM1 | c.1895C>A (p.Pro632His) c.1478C>A (p.Pro493His) c.1853C>A (p.Pro618His) c.1760C>A (p.Pro587His) c.1253C>A (p.Pro418His) | |
19 | g.4816484G>A | CA403488603 | TICAM1 | c.1894C>T (p.Pro632Ser) c.1477C>T (p.Pro493Ser) c.1852C>T (p.Pro618Ser) c.1759C>T (p.Pro587Ser) c.1252C>T (p.Pro418Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816484G>C | CA403488604 | TICAM1 | c.1894C>G (p.Pro632Ala) c.1477C>G (p.Pro493Ala) c.1852C>G (p.Pro618Ala) c.1759C>G (p.Pro587Ala) c.1252C>G (p.Pro418Ala) | |
19 | g.4816484G= | CA2319604893 | TICAM1 | c.1894C= (p.Pro632=) c.1477C= (p.Pro493=) c.1852C= (p.Pro618=) c.1759C= (p.Pro587=) c.1252C= (p.Pro418=) | |
19 | g.4816484G>T | CA403488605 | TICAM1 | c.1894C>A (p.Pro632Thr) c.1477C>A (p.Pro493Thr) c.1852C>A (p.Pro618Thr) c.1759C>A (p.Pro587Thr) c.1252C>A (p.Pro418Thr) | gnomAD v4 |
19 | g.4816485T>A | CA505174075 | TICAM1 | c.1893A>T (p.Pro631=) c.1476A>T (p.Pro492=) c.1851A>T (p.Pro617=) c.1758A>T (p.Pro586=) c.1251A>T (p.Pro417=) | |
19 | g.4816485T>C | CA505174073 | TICAM1 | c.1893A>G (p.Pro631=) c.1476A>G (p.Pro492=) c.1851A>G (p.Pro617=) c.1758A>G (p.Pro586=) c.1251A>G (p.Pro417=) | |
19 | g.4816485T>G | CA505174072 | TICAM1 | c.1893A>C (p.Pro631=) c.1476A>C (p.Pro492=) c.1851A>C (p.Pro617=) c.1758A>C (p.Pro586=) c.1251A>C (p.Pro417=) | gnomAD v3 gnomAD v4 |
19 | g.4816486G>A | CA403488606 | TICAM1 | c.1892C>T (p.Pro631Leu) c.1475C>T (p.Pro492Leu) c.1850C>T (p.Pro617Leu) c.1757C>T (p.Pro586Leu) c.1250C>T (p.Pro417Leu) | dbSNP gnomAD v4 |
19 | g.4816486G>C | CA403488607 | TICAM1 | c.1892C>G (p.Pro631Arg) c.1475C>G (p.Pro492Arg) c.1850C>G (p.Pro617Arg) c.1757C>G (p.Pro586Arg) c.1250C>G (p.Pro417Arg) | gnomAD v4 |
19 | g.4816486G= | CA2319604894 | TICAM1 | c.1892C= (p.Pro631=) c.1475C= (p.Pro492=) c.1850C= (p.Pro617=) c.1757C= (p.Pro586=) c.1250C= (p.Pro417=) | |
19 | g.4816486G>T | CA403488608 | TICAM1 | c.1892C>A (p.Pro631Gln) c.1475C>A (p.Pro492Gln) c.1850C>A (p.Pro617Gln) c.1757C>A (p.Pro586Gln) c.1250C>A (p.Pro417Gln) | |
19 | g.4816487G>A | CA403488609 | TICAM1 | c.1891C>T (p.Pro631Ser) c.1474C>T (p.Pro492Ser) c.1849C>T (p.Pro617Ser) c.1756C>T (p.Pro586Ser) c.1249C>T (p.Pro417Ser) | |
19 | g.4816487G>C | CA403488610 | TICAM1 | c.1891C>G (p.Pro631Ala) c.1474C>G (p.Pro492Ala) c.1849C>G (p.Pro617Ala) c.1756C>G (p.Pro586Ala) c.1249C>G (p.Pro417Ala) | |
19 | g.4816487G>T | CA403488611 | TICAM1 | c.1891C>A (p.Pro631Thr) c.1474C>A (p.Pro492Thr) c.1849C>A (p.Pro617Thr) c.1756C>A (p.Pro586Thr) c.1249C>A (p.Pro417Thr) | gnomAD v4 |
19 | g.4816488C>A | CA505174076 | TICAM1 | c.1890G>T (p.Pro630=) c.1473G>T (p.Pro491=) c.1848G>T (p.Pro616=) c.1755G>T (p.Pro585=) c.1248G>T (p.Pro416=) | dbSNP |
19 | g.4816488C= | CA2319604895 | TICAM1 | c.1890G= (p.Pro630=) c.1473G= (p.Pro491=) c.1848G= (p.Pro616=) c.1755G= (p.Pro585=) c.1248G= (p.Pro416=) | |
19 | g.4816488C>G | CA505174077 | TICAM1 | c.1890G>C (p.Pro630=) c.1473G>C (p.Pro491=) c.1848G>C (p.Pro616=) c.1755G>C (p.Pro585=) c.1248G>C (p.Pro416=) | |
19 | g.4816488C>T | CA9105042 | TICAM1 | c.1890G>A (p.Pro630=) c.1473G>A (p.Pro491=) c.1848G>A (p.Pro616=) c.1755G>A (p.Pro585=) c.1248G>A (p.Pro416=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816489G>A | CA9105044 | TICAM1 | c.1889C>T (p.Pro630Leu) c.1472C>T (p.Pro491Leu) c.1847C>T (p.Pro616Leu) c.1754C>T (p.Pro585Leu) c.1247C>T (p.Pro416Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816489G>C | CA403488612 | TICAM1 | c.1889C>G (p.Pro630Arg) c.1472C>G (p.Pro491Arg) c.1847C>G (p.Pro616Arg) c.1754C>G (p.Pro585Arg) c.1247C>G (p.Pro416Arg) | |
19 | g.4816489G= | CA2319604896 | TICAM1 | c.1889C= (p.Pro630=) c.1472C= (p.Pro491=) c.1847C= (p.Pro616=) c.1754C= (p.Pro585=) c.1247C= (p.Pro416=) | |
19 | g.4816489G>T | CA9105043 | TICAM1 | c.1889C>A (p.Pro630Gln) c.1472C>A (p.Pro491Gln) c.1847C>A (p.Pro616Gln) c.1754C>A (p.Pro585Gln) c.1247C>A (p.Pro416Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816490G>A | CA403488614 | TICAM1 | c.1888C>T (p.Pro630Ser) c.1471C>T (p.Pro491Ser) c.1846C>T (p.Pro616Ser) c.1753C>T (p.Pro585Ser) c.1246C>T (p.Pro416Ser) | gnomAD v4 |
19 | g.4816490G>C | CA403488615 | TICAM1 | c.1888C>G (p.Pro630Ala) c.1471C>G (p.Pro491Ala) c.1846C>G (p.Pro616Ala) c.1753C>G (p.Pro585Ala) c.1246C>G (p.Pro416Ala) | |
19 | g.4816490G= | CA2319604897 | TICAM1 | c.1888C= (p.Pro630=) c.1471C= (p.Pro491=) c.1846C= (p.Pro616=) c.1753C= (p.Pro585=) c.1246C= (p.Pro416=) | |
19 | g.4816490G>T | CA403488613 | TICAM1 | c.1888C>A (p.Pro630Thr) c.1471C>A (p.Pro491Thr) c.1846C>A (p.Pro616Thr) c.1753C>A (p.Pro585Thr) c.1246C>A (p.Pro416Thr) | dbSNP |
19 | g.4816491C>A | CA403488616 | TICAM1 | c.1887G>T (p.Gln629His) c.1470G>T (p.Gln490His) c.1845G>T (p.Gln615His) c.1752G>T (p.Gln584His) c.1245G>T (p.Gln415His) | |
19 | g.4816491C>G | CA403488617 | TICAM1 | c.1887G>C (p.Gln629His) c.1470G>C (p.Gln490His) c.1845G>C (p.Gln615His) c.1752G>C (p.Gln584His) c.1245G>C (p.Gln415His) | dbSNP |
19 | g.4816491C>T | CA505174084 | TICAM1 | c.1887G>A (p.Gln629=) c.1470G>A (p.Gln490=) c.1845G>A (p.Gln615=) c.1752G>A (p.Gln584=) c.1245G>A (p.Gln415=) | gnomAD v4 |
19 | g.4816492T>A | CA403488618 | TICAM1 | c.1886A>T (p.Gln629Leu) c.1469A>T (p.Gln490Leu) c.1844A>T (p.Gln615Leu) c.1751A>T (p.Gln584Leu) c.1244A>T (p.Gln415Leu) | |
19 | g.4816492T>C | CA403488619 | TICAM1 | c.1886A>G (p.Gln629Arg) c.1469A>G (p.Gln490Arg) c.1844A>G (p.Gln615Arg) c.1751A>G (p.Gln584Arg) c.1244A>G (p.Gln415Arg) | gnomAD v4 |
19 | g.4816492T>G | CA403488620 | TICAM1 | c.1886A>C (p.Gln629Pro) c.1469A>C (p.Gln490Pro) c.1844A>C (p.Gln615Pro) c.1751A>C (p.Gln584Pro) c.1244A>C (p.Gln415Pro) | |
19 | g.4816493G>A | CA403488621 | TICAM1 | c.1885C>T (p.Gln629Ter) c.1468C>T (p.Gln490Ter) c.1843C>T (p.Gln615Ter) c.1750C>T (p.Gln584Ter) c.1243C>T (p.Gln415Ter) | |
19 | g.4816493G>C | CA403488622 | TICAM1 | c.1885C>G (p.Gln629Glu) c.1468C>G (p.Gln490Glu) c.1843C>G (p.Gln615Glu) c.1750C>G (p.Gln584Glu) c.1243C>G (p.Gln415Glu) | |
19 | g.4816493G>T | CA403488623 | TICAM1 | c.1885C>A (p.Gln629Lys) c.1468C>A (p.Gln490Lys) c.1843C>A (p.Gln615Lys) c.1750C>A (p.Gln584Lys) c.1243C>A (p.Gln415Lys) | gnomAD v4 |
19 | g.4816494C>A | CA9105045 | TICAM1 | c.1884G>T (p.Pro628=) c.1467G>T (p.Pro489=) c.1842G>T (p.Pro614=) c.1749G>T (p.Pro583=) c.1242G>T (p.Pro414=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816494C= | CA2319604898 | TICAM1 | c.1884G= (p.Pro628=) c.1467G= (p.Pro489=) c.1842G= (p.Pro614=) c.1749G= (p.Pro583=) c.1242G= (p.Pro414=) | |
19 | g.4816494C>G | CA505174088 | TICAM1 | c.1884G>C (p.Pro628=) c.1467G>C (p.Pro489=) c.1842G>C (p.Pro614=) c.1749G>C (p.Pro583=) c.1242G>C (p.Pro414=) | |
19 | g.4816494C>T | CA505174089 | TICAM1 | c.1884G>A (p.Pro628=) c.1467G>A (p.Pro489=) c.1842G>A (p.Pro614=) c.1749G>A (p.Pro583=) c.1242G>A (p.Pro414=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.4816495G>A | CA9105046 | TICAM1 | c.1883C>T (p.Pro628Leu) c.1466C>T (p.Pro489Leu) c.1841C>T (p.Pro614Leu) c.1748C>T (p.Pro583Leu) c.1241C>T (p.Pro414Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816495G>C | CA403488624 | TICAM1 | c.1883C>G (p.Pro628Arg) c.1466C>G (p.Pro489Arg) c.1841C>G (p.Pro614Arg) c.1748C>G (p.Pro583Arg) c.1241C>G (p.Pro414Arg) | |
19 | g.4816495G= | CA2319604899 | TICAM1 | c.1883C= (p.Pro628=) c.1466C= (p.Pro489=) c.1841C= (p.Pro614=) c.1748C= (p.Pro583=) c.1241C= (p.Pro414=) | |
19 | g.4816495G>T | CA403488625 | TICAM1 | c.1883C>A (p.Pro628Gln) c.1466C>A (p.Pro489Gln) c.1841C>A (p.Pro614Gln) c.1748C>A (p.Pro583Gln) c.1241C>A (p.Pro414Gln) | gnomAD v4 |
19 | g.4816497del | CA2576579900 | TICAM1 | c.1883del (p.Pro628ArgfsTer?) c.1466del (p.Pro489ArgfsTer?) c.1841del (p.Pro614ArgfsTer?) c.1748del (p.Pro583ArgfsTer?) c.1241del (p.Pro414ArgfsTer?) | |
19 | g.4816496G>A | CA9105047 | TICAM1 | c.1882C>T (p.Pro628Ser) c.1465C>T (p.Pro489Ser) c.1840C>T (p.Pro614Ser) c.1747C>T (p.Pro583Ser) c.1240C>T (p.Pro414Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816496G>C | CA403488626 | TICAM1 | c.1882C>G (p.Pro628Ala) c.1465C>G (p.Pro489Ala) c.1840C>G (p.Pro614Ala) c.1747C>G (p.Pro583Ala) c.1240C>G (p.Pro414Ala) | |
19 | g.4816496G= | CA2319604900 | TICAM1 | c.1882C= (p.Pro628=) c.1465C= (p.Pro489=) c.1840C= (p.Pro614=) c.1747C= (p.Pro583=) c.1240C= (p.Pro414=) | |
19 | g.4816496G>T | CA403488627 | TICAM1 | c.1882C>A (p.Pro628Thr) c.1465C>A (p.Pro489Thr) c.1840C>A (p.Pro614Thr) c.1747C>A (p.Pro583Thr) c.1240C>A (p.Pro414Thr) | |
19 | g.4816497G>A | CA505174093 | TICAM1 | c.1881C>T (p.Cys627=) c.1464C>T (p.Cys488=) c.1839C>T (p.Cys613=) c.1746C>T (p.Cys582=) c.1239C>T (p.Cys413=) | gnomAD v4 |
19 | g.4816497G>C | CA403488628 | TICAM1 | c.1881C>G (p.Cys627Trp) c.1464C>G (p.Cys488Trp) c.1839C>G (p.Cys613Trp) c.1746C>G (p.Cys582Trp) c.1239C>G (p.Cys413Trp) | |
19 | g.4816497G>T | CA403488629 | TICAM1 | c.1881C>A (p.Cys627Ter) c.1464C>A (p.Cys488Ter) c.1839C>A (p.Cys613Ter) c.1746C>A (p.Cys582Ter) c.1239C>A (p.Cys413Ter) | gnomAD v4 |
19 | g.4816498C>A | CA403488630 | TICAM1 | c.1880G>T (p.Cys627Phe) c.1463G>T (p.Cys488Phe) c.1838G>T (p.Cys613Phe) c.1745G>T (p.Cys582Phe) c.1238G>T (p.Cys413Phe) | gnomAD v4 |
19 | g.4816498C>G | CA403488631 | TICAM1 | c.1880G>C (p.Cys627Ser) c.1463G>C (p.Cys488Ser) c.1838G>C (p.Cys613Ser) c.1745G>C (p.Cys582Ser) c.1238G>C (p.Cys413Ser) | |
19 | g.4816498C>T | CA403488632 | TICAM1 | c.1880G>A (p.Cys627Tyr) c.1463G>A (p.Cys488Tyr) c.1838G>A (p.Cys613Tyr) c.1745G>A (p.Cys582Tyr) c.1238G>A (p.Cys413Tyr) | gnomAD v4 |
19 | g.4816499A>C | CA403488633 | TICAM1 | c.1879T>G (p.Cys627Gly) c.1462T>G (p.Cys488Gly) c.1837T>G (p.Cys613Gly) c.1744T>G (p.Cys582Gly) c.1237T>G (p.Cys413Gly) | gnomAD v3 gnomAD v4 |
19 | g.4816499A>G | CA403488634 | TICAM1 | c.1879T>C (p.Cys627Arg) c.1462T>C (p.Cys488Arg) c.1837T>C (p.Cys613Arg) c.1744T>C (p.Cys582Arg) c.1237T>C (p.Cys413Arg) | |
19 | g.4816499A>T | CA403488635 | TICAM1 | c.1879T>A (p.Cys627Ser) c.1462T>A (p.Cys488Ser) c.1837T>A (p.Cys613Ser) c.1744T>A (p.Cys582Ser) c.1237T>A (p.Cys413Ser) | |
19 | g.4816500C>A | CA505174096 | TICAM1 | c.1878G>T (p.Gly626=) c.1461G>T (p.Gly487=) c.1836G>T (p.Gly612=) c.1743G>T (p.Gly581=) c.1236G>T (p.Gly412=) | |
19 | g.4816500C>G | CA505174097 | TICAM1 | c.1878G>C (p.Gly626=) c.1461G>C (p.Gly487=) c.1836G>C (p.Gly612=) c.1743G>C (p.Gly581=) c.1236G>C (p.Gly412=) | |
19 | g.4816500C>T | CA505174098 | TICAM1 | c.1878G>A (p.Gly626=) c.1461G>A (p.Gly487=) c.1836G>A (p.Gly612=) c.1743G>A (p.Gly581=) c.1236G>A (p.Gly412=) | |
19 | g.4816503del | CA2586031832 | TICAM1 | c.1878del (p.Cys627AlafsTer?) c.1461del (p.Cys488AlafsTer?) c.1836del (p.Cys613AlafsTer?) c.1743del (p.Cys582AlafsTer?) c.1236del (p.Cys413AlafsTer?) | gnomAD v4 |
19 | g.4816501C>A | CA403488636 | TICAM1 | c.1877G>T (p.Gly626Val) c.1460G>T (p.Gly487Val) c.1835G>T (p.Gly612Val) c.1742G>T (p.Gly581Val) c.1235G>T (p.Gly412Val) | |
19 | g.4816501C>G | CA403488637 | TICAM1 | c.1877G>C (p.Gly626Ala) c.1460G>C (p.Gly487Ala) c.1835G>C (p.Gly612Ala) c.1742G>C (p.Gly581Ala) c.1235G>C (p.Gly412Ala) | |
19 | g.4816501C>T | CA403488638 | TICAM1 | c.1877G>A (p.Gly626Glu) c.1460G>A (p.Gly487Glu) c.1835G>A (p.Gly612Glu) c.1742G>A (p.Gly581Glu) c.1235G>A (p.Gly412Glu) | |
19 | g.4816502C>A | CA403488639 | TICAM1 | c.1876G>T (p.Gly626Trp) c.1459G>T (p.Gly487Trp) c.1834G>T (p.Gly612Trp) c.1741G>T (p.Gly581Trp) c.1234G>T (p.Gly412Trp) | |
19 | g.4816502C>G | CA403488640 | TICAM1 | c.1876G>C (p.Gly626Arg) c.1459G>C (p.Gly487Arg) c.1834G>C (p.Gly612Arg) c.1741G>C (p.Gly581Arg) c.1234G>C (p.Gly412Arg) | |
19 | g.4816502C>T | CA403488641 | TICAM1 | c.1876G>A (p.Gly626Arg) c.1459G>A (p.Gly487Arg) c.1834G>A (p.Gly612Arg) c.1741G>A (p.Gly581Arg) c.1234G>A (p.Gly412Arg) | |
19 | g.4816503C>A | CA505174100 | TICAM1 | c.1875G>T (p.Pro625=) c.1458G>T (p.Pro486=) c.1833G>T (p.Pro611=) c.1740G>T (p.Pro580=) c.1233G>T (p.Pro411=) | gnomAD v4 |
19 | g.4816503C= | CA2319604901 | TICAM1 | c.1875G= (p.Pro625=) c.1458G= (p.Pro486=) c.1833G= (p.Pro611=) c.1740G= (p.Pro580=) c.1233G= (p.Pro411=) | |
19 | g.4816503C>G | CA505174101 | TICAM1 | c.1875G>C (p.Pro625=) c.1458G>C (p.Pro486=) c.1833G>C (p.Pro611=) c.1740G>C (p.Pro580=) c.1233G>C (p.Pro411=) | |
19 | g.4816503C>T | CA9105048 | TICAM1 | c.1875G>A (p.Pro625=) c.1458G>A (p.Pro486=) c.1833G>A (p.Pro611=) c.1740G>A (p.Pro580=) c.1233G>A (p.Pro411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816504G>A | CA9105049 | TICAM1 | c.1874C>T (p.Pro625Leu) c.1457C>T (p.Pro486Leu) c.1832C>T (p.Pro611Leu) c.1739C>T (p.Pro580Leu) c.1232C>T (p.Pro411Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816504G>C | CA403488642 | TICAM1 | c.1874C>G (p.Pro625Arg) c.1457C>G (p.Pro486Arg) c.1832C>G (p.Pro611Arg) c.1739C>G (p.Pro580Arg) c.1232C>G (p.Pro411Arg) | |
19 | g.4816504G= | CA2319604902 | TICAM1 | c.1874C= (p.Pro625=) c.1457C= (p.Pro486=) c.1832C= (p.Pro611=) c.1739C= (p.Pro580=) c.1232C= (p.Pro411=) | |
19 | g.4816504G>T | CA403488643 | TICAM1 | c.1874C>A (p.Pro625Gln) c.1457C>A (p.Pro486Gln) c.1832C>A (p.Pro611Gln) c.1739C>A (p.Pro580Gln) c.1232C>A (p.Pro411Gln) | |
19 | g.4816505G>A | CA403488644 | TICAM1 | c.1873C>T (p.Pro625Ser) c.1456C>T (p.Pro486Ser) c.1831C>T (p.Pro611Ser) c.1738C>T (p.Pro580Ser) c.1231C>T (p.Pro411Ser) | gnomAD v4 |
19 | g.4816505G>C | CA403488645 | TICAM1 | c.1873C>G (p.Pro625Ala) c.1456C>G (p.Pro486Ala) c.1831C>G (p.Pro611Ala) c.1738C>G (p.Pro580Ala) c.1231C>G (p.Pro411Ala) | |
19 | g.4816505G>T | CA403488646 | TICAM1 | c.1873C>A (p.Pro625Thr) c.1456C>A (p.Pro486Thr) c.1831C>A (p.Pro611Thr) c.1738C>A (p.Pro580Thr) c.1231C>A (p.Pro411Thr) | |
19 | g.4816506C>A | CA403488647 | TICAM1 | c.1872G>T (p.Trp624Cys) c.1455G>T (p.Trp485Cys) c.1830G>T (p.Trp610Cys) c.1737G>T (p.Trp579Cys) c.1230G>T (p.Trp410Cys) | |
19 | g.4816506C>G | CA403488648 | TICAM1 | c.1872G>C (p.Trp624Cys) c.1455G>C (p.Trp485Cys) c.1830G>C (p.Trp610Cys) c.1737G>C (p.Trp579Cys) c.1230G>C (p.Trp410Cys) | |
19 | g.4816506C>T | CA403488649 | TICAM1 | c.1872G>A (p.Trp624Ter) c.1455G>A (p.Trp485Ter) c.1830G>A (p.Trp610Ter) c.1737G>A (p.Trp579Ter) c.1230G>A (p.Trp410Ter) | |
19 | g.4816507C>A | CA403488650 | TICAM1 | c.1871G>T (p.Trp624Leu) c.1454G>T (p.Trp485Leu) c.1829G>T (p.Trp610Leu) c.1736G>T (p.Trp579Leu) c.1229G>T (p.Trp410Leu) | gnomAD v4 |
19 | g.4816507C>G | CA403488651 | TICAM1 | c.1871G>C (p.Trp624Ser) c.1454G>C (p.Trp485Ser) c.1829G>C (p.Trp610Ser) c.1736G>C (p.Trp579Ser) c.1229G>C (p.Trp410Ser) | |
19 | g.4816507C>T | CA403488652 | TICAM1 | c.1871G>A (p.Trp624Ter) c.1454G>A (p.Trp485Ter) c.1829G>A (p.Trp610Ter) c.1736G>A (p.Trp579Ter) c.1229G>A (p.Trp410Ter) | |
19 | g.4816508A>C | CA403488655 | TICAM1 | c.1870T>G (p.Trp624Gly) c.1453T>G (p.Trp485Gly) c.1828T>G (p.Trp610Gly) c.1735T>G (p.Trp579Gly) c.1228T>G (p.Trp410Gly) | |
19 | g.4816508A>G | CA403488654 | TICAM1 | c.1870T>C (p.Trp624Arg) c.1453T>C (p.Trp485Arg) c.1828T>C (p.Trp610Arg) c.1735T>C (p.Trp579Arg) c.1228T>C (p.Trp410Arg) | |
19 | g.4816508A>T | CA403488653 | TICAM1 | c.1870T>A (p.Trp624Arg) c.1453T>A (p.Trp485Arg) c.1828T>A (p.Trp610Arg) c.1735T>A (p.Trp579Arg) c.1228T>A (p.Trp410Arg) | gnomAD v4 |
19 | g.4816509A>C | CA505174111 | TICAM1 | c.1869T>G (p.Thr623=) c.1452T>G (p.Thr484=) c.1827T>G (p.Thr609=) c.1734T>G (p.Thr578=) c.1227T>G (p.Thr409=) | |
19 | g.4816509A>G | CA505174109 | TICAM1 | c.1869T>C (p.Thr623=) c.1452T>C (p.Thr484=) c.1827T>C (p.Thr609=) c.1734T>C (p.Thr578=) c.1227T>C (p.Thr409=) | |
19 | g.4816509A>T | CA505174106 | TICAM1 | c.1869T>A (p.Thr623=) c.1452T>A (p.Thr484=) c.1827T>A (p.Thr609=) c.1734T>A (p.Thr578=) c.1227T>A (p.Thr409=) | |
19 | g.4816510G>A | CA9105050 | TICAM1 | c.1868C>T (p.Thr623Ile) c.1451C>T (p.Thr484Ile) c.1826C>T (p.Thr609Ile) c.1733C>T (p.Thr578Ile) c.1226C>T (p.Thr409Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816510G>C | CA403488656 | TICAM1 | c.1868C>G (p.Thr623Ser) c.1451C>G (p.Thr484Ser) c.1826C>G (p.Thr609Ser) c.1733C>G (p.Thr578Ser) c.1226C>G (p.Thr409Ser) | |
19 | g.4816510G= | CA2319604903 | TICAM1 | c.1868C= (p.Thr623=) c.1451C= (p.Thr484=) c.1826C= (p.Thr609=) c.1733C= (p.Thr578=) c.1226C= (p.Thr409=) | |
19 | g.4816510G>T | CA403488657 | TICAM1 | c.1868C>A (p.Thr623Asn) c.1451C>A (p.Thr484Asn) c.1826C>A (p.Thr609Asn) c.1733C>A (p.Thr578Asn) c.1226C>A (p.Thr409Asn) | gnomAD v4 |
19 | g.4816511T>A | CA403488658 | TICAM1 | c.1867A>T (p.Thr623Ser) c.1450A>T (p.Thr484Ser) c.1825A>T (p.Thr609Ser) c.1732A>T (p.Thr578Ser) c.1225A>T (p.Thr409Ser) | |
19 | g.4816511T>C | CA403488659 | TICAM1 | c.1867A>G (p.Thr623Ala) c.1450A>G (p.Thr484Ala) c.1825A>G (p.Thr609Ala) c.1732A>G (p.Thr578Ala) c.1225A>G (p.Thr409Ala) | |
19 | g.4816511T>G | CA403488660 | TICAM1 | c.1867A>C (p.Thr623Pro) c.1450A>C (p.Thr484Pro) c.1825A>C (p.Thr609Pro) c.1732A>C (p.Thr578Pro) c.1225A>C (p.Thr409Pro) | |
19 | g.4816512G>A | CA9105051 | TICAM1 | c.1866C>T (p.Pro622=) c.1449C>T (p.Pro483=) c.1824C>T (p.Pro608=) c.1731C>T (p.Pro577=) c.1224C>T (p.Pro408=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816512G>C | CA505174116 | TICAM1 | c.1866C>G (p.Pro622=) c.1449C>G (p.Pro483=) c.1824C>G (p.Pro608=) c.1731C>G (p.Pro577=) c.1224C>G (p.Pro408=) | |
19 | g.4816512G= | CA2319604904 | TICAM1 | c.1866C= (p.Pro622=) c.1449C= (p.Pro483=) c.1824C= (p.Pro608=) c.1731C= (p.Pro577=) c.1224C= (p.Pro408=) | |
19 | g.4816512G>T | CA505174119 | TICAM1 | c.1866C>A (p.Pro622=) c.1449C>A (p.Pro483=) c.1824C>A (p.Pro608=) c.1731C>A (p.Pro577=) c.1224C>A (p.Pro408=) | |
19 | g.4816514dup | CA2842302124 | TICAM1 | c.1866dup (p.Thr623HisfsTer?) c.1449dup (p.Thr484HisfsTer?) c.1824dup (p.Thr609HisfsTer?) c.1731dup (p.Thr578HisfsTer?) c.1224dup (p.Thr409HisfsTer?) | |
19 | g.4816513G>A | CA403488661 | TICAM1 | c.1865C>T (p.Pro622Leu) c.1448C>T (p.Pro483Leu) c.1823C>T (p.Pro608Leu) c.1730C>T (p.Pro577Leu) c.1223C>T (p.Pro408Leu) | |
19 | g.4816513G>C | CA403488662 | TICAM1 | c.1865C>G (p.Pro622Arg) c.1448C>G (p.Pro483Arg) c.1823C>G (p.Pro608Arg) c.1730C>G (p.Pro577Arg) c.1223C>G (p.Pro408Arg) | |
19 | g.4816513G>T | CA403488663 | TICAM1 | c.1865C>A (p.Pro622His) c.1448C>A (p.Pro483His) c.1823C>A (p.Pro608His) c.1730C>A (p.Pro577His) c.1223C>A (p.Pro408His) | |
19 | g.4816514G>A | CA403488664 | TICAM1 | c.1864C>T (p.Pro622Ser) c.1447C>T (p.Pro483Ser) c.1822C>T (p.Pro608Ser) c.1729C>T (p.Pro577Ser) c.1222C>T (p.Pro408Ser) | |
19 | g.4816514G>C | CA403488665 | TICAM1 | c.1864C>G (p.Pro622Ala) c.1447C>G (p.Pro483Ala) c.1822C>G (p.Pro608Ala) c.1729C>G (p.Pro577Ala) c.1222C>G (p.Pro408Ala) | |
19 | g.4816514G>T | CA403488666 | TICAM1 | c.1864C>A (p.Pro622Thr) c.1447C>A (p.Pro483Thr) c.1822C>A (p.Pro608Thr) c.1729C>A (p.Pro577Thr) c.1222C>A (p.Pro408Thr) | |
19 | g.4816515A>C | CA403488667 | TICAM1 | c.1863T>G (p.Phe621Leu) c.1446T>G (p.Phe482Leu) c.1821T>G (p.Phe607Leu) c.1728T>G (p.Phe576Leu) c.1221T>G (p.Phe407Leu) | |
19 | g.4816515A>G | CA505174125 | TICAM1 | c.1863T>C (p.Phe621=) c.1446T>C (p.Phe482=) c.1821T>C (p.Phe607=) c.1728T>C (p.Phe576=) c.1221T>C (p.Phe407=) | |
19 | g.4816515A>T | CA403488668 | TICAM1 | c.1863T>A (p.Phe621Leu) c.1446T>A (p.Phe482Leu) c.1821T>A (p.Phe607Leu) c.1728T>A (p.Phe576Leu) c.1221T>A (p.Phe407Leu) | |
19 | g.4816516A>C | CA403488669 | TICAM1 | c.1862T>G (p.Phe621Cys) c.1445T>G (p.Phe482Cys) c.1820T>G (p.Phe607Cys) c.1727T>G (p.Phe576Cys) c.1220T>G (p.Phe407Cys) | |
19 | g.4816516A>G | CA403488671 | TICAM1 | c.1862T>C (p.Phe621Ser) c.1445T>C (p.Phe482Ser) c.1820T>C (p.Phe607Ser) c.1727T>C (p.Phe576Ser) c.1220T>C (p.Phe407Ser) | |
19 | g.4816516A>T | CA403488670 | TICAM1 | c.1862T>A (p.Phe621Tyr) c.1445T>A (p.Phe482Tyr) c.1820T>A (p.Phe607Tyr) c.1727T>A (p.Phe576Tyr) c.1220T>A (p.Phe407Tyr) | |
19 | g.4816517A>C | CA403488672 | TICAM1 | c.1861T>G (p.Phe621Val) c.1444T>G (p.Phe482Val) c.1819T>G (p.Phe607Val) c.1726T>G (p.Phe576Val) c.1219T>G (p.Phe407Val) | |
19 | g.4816517A>G | CA403488673 | TICAM1 | c.1861T>C (p.Phe621Leu) c.1444T>C (p.Phe482Leu) c.1819T>C (p.Phe607Leu) c.1726T>C (p.Phe576Leu) c.1219T>C (p.Phe407Leu) | |
19 | g.4816517A>T | CA403488674 | TICAM1 | c.1861T>A (p.Phe621Ile) c.1444T>A (p.Phe482Ile) c.1819T>A (p.Phe607Ile) c.1726T>A (p.Phe576Ile) c.1219T>A (p.Phe407Ile) | |
19 | g.4816518G>A | CA505174127 | TICAM1 | c.1860C>T (p.Pro620=) c.1443C>T (p.Pro481=) c.1818C>T (p.Pro606=) c.1725C>T (p.Pro575=) c.1218C>T (p.Pro406=) | gnomAD v4 |
19 | g.4816518G>C | CA505174129 | TICAM1 | c.1860C>G (p.Pro620=) c.1443C>G (p.Pro481=) c.1818C>G (p.Pro606=) c.1725C>G (p.Pro575=) c.1218C>G (p.Pro406=) | |
19 | g.4816518G>T | CA505174130 | TICAM1 | c.1860C>A (p.Pro620=) c.1443C>A (p.Pro481=) c.1818C>A (p.Pro606=) c.1725C>A (p.Pro575=) c.1218C>A (p.Pro406=) | gnomAD v4 |
19 | g.4816519G>A | CA403488675 | TICAM1 | c.1859C>T (p.Pro620Leu) c.1442C>T (p.Pro481Leu) c.1817C>T (p.Pro606Leu) c.1724C>T (p.Pro575Leu) c.1217C>T (p.Pro406Leu) | |
19 | g.4816519G>C | CA9105052 | TICAM1 | c.1859C>G (p.Pro620Arg) c.1442C>G (p.Pro481Arg) c.1817C>G (p.Pro606Arg) c.1724C>G (p.Pro575Arg) c.1217C>G (p.Pro406Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816519G= | CA2319604905 | TICAM1 | c.1859C= (p.Pro620=) c.1442C= (p.Pro481=) c.1817C= (p.Pro606=) c.1724C= (p.Pro575=) c.1217C= (p.Pro406=) | |
19 | g.4816519G>T | CA403488676 | TICAM1 | c.1859C>A (p.Pro620His) c.1442C>A (p.Pro481His) c.1817C>A (p.Pro606His) c.1724C>A (p.Pro575His) c.1217C>A (p.Pro406His) | gnomAD v4 |
19 | g.4816520G>A | CA9105053 | TICAM1 | c.1858C>T (p.Pro620Ser) c.1441C>T (p.Pro481Ser) c.1816C>T (p.Pro606Ser) c.1723C>T (p.Pro575Ser) c.1216C>T (p.Pro406Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816520G>C | CA403488678 | TICAM1 | c.1858C>G (p.Pro620Ala) c.1441C>G (p.Pro481Ala) c.1816C>G (p.Pro606Ala) c.1723C>G (p.Pro575Ala) c.1216C>G (p.Pro406Ala) | |
19 | g.4816520G= | CA2319604906 | TICAM1 | c.1858C= (p.Pro620=) c.1441C= (p.Pro481=) c.1816C= (p.Pro606=) c.1723C= (p.Pro575=) c.1216C= (p.Pro406=) | |
19 | g.4816520G>T | CA403488677 | TICAM1 | c.1858C>A (p.Pro620Thr) c.1441C>A (p.Pro481Thr) c.1816C>A (p.Pro606Thr) c.1723C>A (p.Pro575Thr) c.1216C>A (p.Pro406Thr) | gnomAD v4 |
19 | g.4816521T>A | CA505174132 | TICAM1 | c.1857A>T (p.Pro619=) c.1440A>T (p.Pro480=) c.1815A>T (p.Pro605=) c.1722A>T (p.Pro574=) c.1215A>T (p.Pro405=) | |
19 | g.4816521T>C | CA505174134 | TICAM1 | c.1857A>G (p.Pro619=) c.1440A>G (p.Pro480=) c.1815A>G (p.Pro605=) c.1722A>G (p.Pro574=) c.1215A>G (p.Pro405=) | ClinVar |
19 | g.4816521T>G | CA505174133 | TICAM1 | c.1857A>C (p.Pro619=) c.1440A>C (p.Pro480=) c.1815A>C (p.Pro605=) c.1722A>C (p.Pro574=) c.1215A>C (p.Pro405=) | dbSNP |
19 | g.4816522G>A | CA403488679 | TICAM1 | c.1856C>T (p.Pro619Leu) c.1439C>T (p.Pro480Leu) c.1814C>T (p.Pro605Leu) c.1721C>T (p.Pro574Leu) c.1214C>T (p.Pro405Leu) | gnomAD v4 |
19 | g.4816522G>C | CA403488680 | TICAM1 | c.1856C>G (p.Pro619Arg) c.1439C>G (p.Pro480Arg) c.1814C>G (p.Pro605Arg) c.1721C>G (p.Pro574Arg) c.1214C>G (p.Pro405Arg) | |
19 | g.4816522G= | CA2319604907 | TICAM1 | c.1856C= (p.Pro619=) c.1439C= (p.Pro480=) c.1814C= (p.Pro605=) c.1721C= (p.Pro574=) c.1214C= (p.Pro405=) | |
19 | g.4816522G>T | CA9105054 | TICAM1 | c.1856C>A (p.Pro619Gln) c.1439C>A (p.Pro480Gln) c.1814C>A (p.Pro605Gln) c.1721C>A (p.Pro574Gln) c.1214C>A (p.Pro405Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816523G>A | CA403488681 | TICAM1 | c.1855C>T (p.Pro619Ser) c.1438C>T (p.Pro480Ser) c.1813C>T (p.Pro605Ser) c.1720C>T (p.Pro574Ser) c.1213C>T (p.Pro405Ser) | |
19 | g.4816523G>C | CA403488682 | TICAM1 | c.1855C>G (p.Pro619Ala) c.1438C>G (p.Pro480Ala) c.1813C>G (p.Pro605Ala) c.1720C>G (p.Pro574Ala) c.1213C>G (p.Pro405Ala) | |
19 | g.4816523G= | CA2319604908 | TICAM1 | c.1855C= (p.Pro619=) c.1438C= (p.Pro480=) c.1813C= (p.Pro605=) c.1720C= (p.Pro574=) c.1213C= (p.Pro405=) | |
19 | g.4816523G>T | CA403488683 | TICAM1 | c.1855C>A (p.Pro619Thr) c.1438C>A (p.Pro480Thr) c.1813C>A (p.Pro605Thr) c.1720C>A (p.Pro574Thr) c.1213C>A (p.Pro405Thr) | dbSNP gnomAD v4 |
19 | g.4816524C>A | CA505174137 | TICAM1 | c.1854G>T (p.Pro618=) c.1437G>T (p.Pro479=) c.1812G>T (p.Pro604=) c.1719G>T (p.Pro573=) c.1212G>T (p.Pro404=) | |
19 | g.4816524C= | CA2319604909 | TICAM1 | c.1854G= (p.Pro618=) c.1437G= (p.Pro479=) c.1812G= (p.Pro604=) c.1719G= (p.Pro573=) c.1212G= (p.Pro404=) | |
19 | g.4816524C>G | CA505174138 | TICAM1 | c.1854G>C (p.Pro618=) c.1437G>C (p.Pro479=) c.1812G>C (p.Pro604=) c.1719G>C (p.Pro573=) c.1212G>C (p.Pro404=) | ClinVar dbSNP |
19 | g.4816524C>T | CA9105055 | TICAM1 | c.1854G>A (p.Pro618=) c.1437G>A (p.Pro479=) c.1812G>A (p.Pro604=) c.1719G>A (p.Pro573=) c.1212G>A (p.Pro404=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816525G>A | CA9105056 | TICAM1 | c.1853C>T (p.Pro618Leu) c.1436C>T (p.Pro479Leu) c.1811C>T (p.Pro604Leu) c.1718C>T (p.Pro573Leu) c.1211C>T (p.Pro404Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816525G>C | CA403488685 | TICAM1 | c.1853C>G (p.Pro618Arg) c.1436C>G (p.Pro479Arg) c.1811C>G (p.Pro604Arg) c.1718C>G (p.Pro573Arg) c.1211C>G (p.Pro404Arg) | |
19 | g.4816525G= | CA2319604910 | TICAM1 | c.1853C= (p.Pro618=) c.1436C= (p.Pro479=) c.1811C= (p.Pro604=) c.1718C= (p.Pro573=) c.1211C= (p.Pro404=) | |
19 | g.4816525G>T | CA403488684 | TICAM1 | c.1853C>A (p.Pro618Gln) c.1436C>A (p.Pro479Gln) c.1811C>A (p.Pro604Gln) c.1718C>A (p.Pro573Gln) c.1211C>A (p.Pro404Gln) | |
19 | g.4816526G>A | CA403488686 | TICAM1 | c.1852C>T (p.Pro618Ser) c.1435C>T (p.Pro479Ser) c.1810C>T (p.Pro604Ser) c.1717C>T (p.Pro573Ser) c.1210C>T (p.Pro404Ser) | gnomAD v4 |
19 | g.4816526G>C | CA403488687 | TICAM1 | c.1852C>G (p.Pro618Ala) c.1435C>G (p.Pro479Ala) c.1810C>G (p.Pro604Ala) c.1717C>G (p.Pro573Ala) c.1210C>G (p.Pro404Ala) | |
19 | g.4816526G= | CA2319604911 | TICAM1 | c.1852C= (p.Pro618=) c.1435C= (p.Pro479=) c.1810C= (p.Pro604=) c.1717C= (p.Pro573=) c.1210C= (p.Pro404=) | |
19 | g.4816526G>T | CA403488688 | TICAM1 | c.1852C>A (p.Pro618Thr) c.1435C>A (p.Pro479Thr) c.1810C>A (p.Pro604Thr) c.1717C>A (p.Pro573Thr) c.1210C>A (p.Pro404Thr) | dbSNP |
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) |