Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.4816445_4816456delCA882980637TICAM1c.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
19g.4816451G>ACA9105033TICAM1c.1927C>T (p.Pro643Ser)
c.1479+31C>T (n.1479+31C>T)
c.1885C>T (p.Pro629Ser)
c.1792C>T (p.Pro598Ser)
c.1285C>T (p.Pro429Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816451G>CCA403488538TICAM1c.1927C>G (p.Pro643Ala)
c.1479+31C>G (n.1479+31C>G)
c.1885C>G (p.Pro629Ala)
c.1792C>G (p.Pro598Ala)
c.1285C>G (p.Pro429Ala)
19g.4816451G=CA2319604877TICAM1c.1927C= (p.Pro643=)
c.1479+31C= (n.1479+31C=)
c.1885C= (p.Pro629=)
c.1792C= (p.Pro598=)
c.1285C= (p.Pro429=)
19g.4816451G>TCA403488539TICAM1c.1927C>A (p.Pro643Thr)
c.1479+31C>A (n.1479+31C>A)
c.1885C>A (p.Pro629Thr)
c.1792C>A (p.Pro598Thr)
c.1285C>A (p.Pro429Thr)
19g.4816452T>ACA505174011TICAM1c.1926A>T (p.Pro642=)
c.1479+30A>T (n.1479+30A>T)
c.1884A>T (p.Pro628=)
c.1791A>T (p.Pro597=)
c.1284A>T (p.Pro428=)
19g.4816452T>CCA505174012TICAM1c.1926A>G (p.Pro642=)
c.1479+30A>G (n.1479+30A>G)
c.1884A>G (p.Pro628=)
c.1791A>G (p.Pro597=)
c.1284A>G (p.Pro428=)
19g.4816452T>GCA505174013TICAM1c.1926A>C (p.Pro642=)
c.1479+30A>C (n.1479+30A>C)
c.1884A>C (p.Pro628=)
c.1791A>C (p.Pro597=)
c.1284A>C (p.Pro428=)
dbSNP gnomAD v3 gnomAD v4
19g.4816452T=CA2319604879TICAM1c.1926A= (p.Pro642=)
c.1479+30A= (n.1479+30A=)
c.1884A= (p.Pro628=)
c.1791A= (p.Pro597=)
c.1284A= (p.Pro428=)
19g.4816452_4816453delinsTGCA2319604878TICAM1c.1925_1926delinsCA (p.Pro642=)
c.1479+29_1479+30delinsCA (n.1479+29_1479+30delinsCA)
c.1883_1884delinsCA (p.Pro628=)
c.1790_1791delinsCA (p.Pro597=)
c.1283_1284delinsCA (p.Pro428=)
19g.4816453G>ACA403488540TICAM1c.1925C>T (p.Pro642Leu)
c.1479+29C>T (n.1479+29C>T)
c.1883C>T (p.Pro628Leu)
c.1790C>T (p.Pro597Leu)
c.1283C>T (p.Pro428Leu)
19g.4816453G>CCA9105035TICAM1c.1925C>G (p.Pro642Arg)
c.1479+29C>G (n.1479+29C>G)
c.1883C>G (p.Pro628Arg)
c.1790C>G (p.Pro597Arg)
c.1283C>G (p.Pro428Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816453G=CA2319604880TICAM1c.1925C= (p.Pro642=)
c.1479+29C= (n.1479+29C=)
c.1883C= (p.Pro628=)
c.1790C= (p.Pro597=)
c.1283C= (p.Pro428=)
19g.4816453G>TCA403488541TICAM1c.1925C>A (p.Pro642Gln)
c.1479+29C>A (n.1479+29C>A)
c.1883C>A (p.Pro628Gln)
c.1790C>A (p.Pro597Gln)
c.1283C>A (p.Pro428Gln)
gnomAD v4
19g.4816459_4816460insGGGGGGGGGGGGCA992856743TICAM1c.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
19g.4816459_4816460insGGGGGGGGGGGGGGCA992856746TICAM1c.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
19g.4816459_4816460insGGGGGGGGGGGGGGGCA992856748TICAM1c.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
19g.4816459dupCA9105034TICAM1c.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
19g.4816458_4816459dupCA2813381022TICAM1c.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?)
19g.4816453_4816459dupCA2813381023TICAM1c.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?)
19g.4816459delCA505174015TICAM1c.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
19g.4816453_4816454insCCA505174016TICAM1c.1924_1925insG (p.Pro642ArgfsTer?)
c.1479+28_1479+29insG (n.1479+28_1479+29insG)
c.1882_1883insG (p.Pro628ArgfsTer?)
c.1789_1790insG (p.Pro597ArgfsTer?)
c.1282_1283insG (p.Pro428ArgfsTer?)
19g.4816454G>ACA9105036TICAM1c.1924C>T (p.Pro642Ser)
c.1479+28C>T (n.1479+28C>T)
c.1882C>T (p.Pro628Ser)
c.1789C>T (p.Pro597Ser)
c.1282C>T (p.Pro428Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816454G>CCA403488542TICAM1c.1924C>G (p.Pro642Ala)
c.1479+28C>G (n.1479+28C>G)
c.1882C>G (p.Pro628Ala)
c.1789C>G (p.Pro597Ala)
c.1282C>G (p.Pro428Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.4816454G=CA2319604881TICAM1c.1924C= (p.Pro642=)
c.1479+28C= (n.1479+28C=)
c.1882C= (p.Pro628=)
c.1789C= (p.Pro597=)
c.1282C= (p.Pro428=)
19g.4816454G>TCA403488543TICAM1c.1924C>A (p.Pro642Thr)
c.1479+28C>A (n.1479+28C>A)
c.1882C>A (p.Pro628Thr)
c.1789C>A (p.Pro597Thr)
c.1282C>A (p.Pro428Thr)
ClinVar gnomAD v4
19g.4816455G>ACA505174017TICAM1c.1923C>T (p.Pro641=)
c.1479+27C>T (n.1479+27C>T)
c.1881C>T (p.Pro627=)
c.1788C>T (p.Pro596=)
c.1281C>T (p.Pro427=)
dbSNP
19g.4816455G>CCA505174018TICAM1c.1923C>G (p.Pro641=)
c.1479+27C>G (n.1479+27C>G)
c.1881C>G (p.Pro627=)
c.1788C>G (p.Pro596=)
c.1281C>G (p.Pro427=)
19g.4816455G=CA2319604882TICAM1c.1923C= (p.Pro641=)
c.1479+27C= (n.1479+27C=)
c.1881C= (p.Pro627=)
c.1788C= (p.Pro596=)
c.1281C= (p.Pro427=)
19g.4816455G>TCA505174019TICAM1c.1923C>A (p.Pro641=)
c.1479+27C>A (n.1479+27C>A)
c.1881C>A (p.Pro627=)
c.1788C>A (p.Pro596=)
c.1281C>A (p.Pro427=)
dbSNP gnomAD v4
19g.4816456G>ACA403488546TICAM1c.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
19g.4816456G>CCA403488545TICAM1c.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)
19g.4816456G>TCA403488544TICAM1c.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
19g.4816457G>ACA304547019TICAM1c.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
19g.4816457G>CCA403488547TICAM1c.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)
19g.4816457G=CA2319604883TICAM1c.1921C= (p.Pro641=)
c.1479+25C= (n.1479+25C=)
c.1879C= (p.Pro627=)
c.1786C= (p.Pro596=)
c.1279C= (p.Pro427=)
19g.4816457G>TCA403488548TICAM1c.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
19g.4816458G>ACA505174021TICAM1c.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
19g.4816458G>CCA505174022TICAM1c.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=)
19g.4816458G=CA2319604884TICAM1c.1920C= (p.Thr640=)
c.1479+24C= (n.1479+24C=)
c.1878C= (p.Thr626=)
c.1785C= (p.Thr595=)
c.1278C= (p.Thr426=)
19g.4816458G>TCA505174023TICAM1c.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
19g.4816459G>ACA403488549TICAM1c.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
19g.4816459G>CCA304547024TICAM1c.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
19g.4816459G=CA2319604885TICAM1c.1919C= (p.Thr640=)
c.1479+23C= (n.1479+23C=)
c.1877C= (p.Thr626=)
c.1784C= (p.Thr595=)
c.1277C= (p.Thr426=)
19g.4816459G>TCA403488550TICAM1c.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
19g.4816460T>ACA403488551TICAM1c.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)
19g.4816460T>CCA403488552TICAM1c.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)
19g.4816460T>GCA403488553TICAM1c.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
19g.4816461G>ACA505174025TICAM1c.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
19g.4816461G>CCA505174027TICAM1c.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=)
19g.4816461G=CA2319604886TICAM1c.1917C= (p.Gly639=)
c.1479+21C= (n.1479+21C=)
c.1875C= (p.Gly625=)
c.1782C= (p.Gly594=)
c.1275C= (p.Gly425=)
19g.4816461G>TCA505174026TICAM1c.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
19g.4816462C>ACA403488554TICAM1c.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
19g.4816462C>GCA403488555TICAM1c.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)
19g.4816462C>TCA403488556TICAM1c.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
19g.4816463C>ACA403488557TICAM1c.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
19g.4816463C>GCA403488559TICAM1c.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)
19g.4816463C>TCA403488558TICAM1c.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
19g.4816464A>CCA505174031TICAM1c.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=)
19g.4816464A>GCA505174032TICAM1c.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
19g.4816464A>TCA505174033TICAM1c.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=)
19g.4816465G>ACA9105037TICAM1c.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
19g.4816465G>CCA403488560TICAM1c.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
19g.4816465G=CA2319604887TICAM1c.1913C= (p.Ala638=)
c.1479+17C= (n.1479+17C=)
c.1871C= (p.Ala624=)
c.1778C= (p.Ala593=)
c.1271C= (p.Ala424=)
19g.4816465G>TCA403488561TICAM1c.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
19g.4816466C>ACA403488562TICAM1c.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
19g.4816466C>GCA403488563TICAM1c.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)
19g.4816466C>TCA403488564TICAM1c.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
19g.4816467_4816471delCA2586031830TICAM1c.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
19g.4816467C>ACA403488566TICAM1c.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)
19g.4816467C>GCA403488565TICAM1c.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)
19g.4816467C>TCA505174038TICAM1c.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=)
19g.4816468T>ACA403488567TICAM1c.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
19g.4816468T>CCA403488568TICAM1c.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
19g.4816468T>GCA403488569TICAM1c.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)
19g.4816469G>ACA403488570TICAM1c.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
19g.4816469G>CCA403488571TICAM1c.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)
19g.4816469G>TCA403488572TICAM1c.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
19g.4816470C>ACA403488575TICAM1c.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
19g.4816470C=CA2319604888TICAM1c.1908G= (p.Trp636=)
c.1479+12G= (n.1479+12G=)
c.1866G= (p.Trp622=)
c.1773G= (p.Trp591=)
c.1266G= (p.Trp422=)
19g.4816470C>GCA403488573TICAM1c.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)
19g.4816470C>TCA403488574TICAM1c.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
19g.4816471C>ACA403488576TICAM1c.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
19g.4816471C>GCA403488577TICAM1c.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
19g.4816471C>TCA403488578TICAM1c.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
19g.4816472A>CCA403488579TICAM1c.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)
19g.4816472A>GCA403488580TICAM1c.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)
19g.4816472A>TCA403488581TICAM1c.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)
19g.4816473T>ACA9105038TICAM1c.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
19g.4816473T>CCA505174054TICAM1c.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
19g.4816473T>GCA505174055TICAM1c.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=)
19g.4816473T=CA2319604889TICAM1c.1905A= (p.Ala635=)
c.1479+9A= (n.1479+9A=)
c.1863A= (p.Ala621=)
c.1770A= (p.Ala590=)
c.1263A= (p.Ala421=)
19g.4816474G>ACA403488582TICAM1c.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)
19g.4816474G>CCA403488583TICAM1c.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)
19g.4816474G>TCA403488584TICAM1c.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)
19g.4816475_4816483delCA2586031831TICAM1c.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
19g.4816475C>ACA403488585TICAM1c.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
19g.4816475C=CA2319604890TICAM1c.1903G= (p.Ala635=)
c.1479+7G= (n.1479+7G=)
c.1861G= (p.Ala621=)
c.1768G= (p.Ala590=)
c.1261G= (p.Ala421=)
19g.4816475C>GCA403488586TICAM1c.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)
19g.4816475C>TCA9105039TICAM1c.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
19g.4816476G>ACA9105040TICAM1c.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
19g.4816476G>CCA9105041TICAM1c.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
19g.4816476G=CA2319604891TICAM1c.1902C= (p.His634=)
c.1479+6C= (n.1479+6C=)
c.1860C= (p.His620=)
c.1767C= (p.His589=)
c.1260C= (p.His420=)
19g.4816476G>TCA403488587TICAM1c.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
19g.4816476_4816477delinsAACA645615016TICAM1c.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
19g.4816477T>ACA403488588TICAM1c.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)
19g.4816477T>CCA403488589TICAM1c.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
19g.4816477T>GCA403488590TICAM1c.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)
19g.4816477T=CA2319604892TICAM1c.1901A= (p.His634=)
c.1479+5A= (n.1479+5A=)
c.1859A= (p.His620=)
c.1766A= (p.His589=)
c.1259A= (p.His420=)
19g.4816478G>ACA403488591TICAM1c.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
19g.4816478G>CCA403488592TICAM1c.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)
19g.4816478G>TCA403488593TICAM1c.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)
19g.4816479C>ACA505174059TICAM1c.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
19g.4816479C>GCA505174060TICAM1c.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
19g.4816479C>TCA505174061TICAM1c.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
19g.4816480A>CCA403488594TICAM1c.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)
19g.4816480A>GCA403488595TICAM1c.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)
19g.4816480A>TCA403488596TICAM1c.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
19g.4816481G>ACA403488597TICAM1c.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=)
19g.4816481G>CCA403488598TICAM1c.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)
19g.4816481G>TCA403488599TICAM1c.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)
19g.4816482G>ACA505174068TICAM1c.1896C>T (p.Pro632=)
c.1479C>T (p.Pro493=)
c.1854C>T (p.Pro618=)
c.1761C>T (p.Pro587=)
c.1254C>T (p.Pro418=)
19g.4816482G>CCA505174066TICAM1c.1896C>G (p.Pro632=)
c.1479C>G (p.Pro493=)
c.1854C>G (p.Pro618=)
c.1761C>G (p.Pro587=)
c.1254C>G (p.Pro418=)
19g.4816482G>TCA505174065TICAM1c.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
19g.4816483G>ACA403488602TICAM1c.1895C>T (p.Pro632Leu)
c.1478C>T (p.Pro493Leu)
c.1853C>T (p.Pro618Leu)
c.1760C>T (p.Pro587Leu)
c.1253C>T (p.Pro418Leu)
19g.4816483G>CCA403488601TICAM1c.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
19g.4816483G>TCA403488600TICAM1c.1895C>A (p.Pro632His)
c.1478C>A (p.Pro493His)
c.1853C>A (p.Pro618His)
c.1760C>A (p.Pro587His)
c.1253C>A (p.Pro418His)
19g.4816484G>ACA403488603TICAM1c.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
19g.4816484G>CCA403488604TICAM1c.1894C>G (p.Pro632Ala)
c.1477C>G (p.Pro493Ala)
c.1852C>G (p.Pro618Ala)
c.1759C>G (p.Pro587Ala)
c.1252C>G (p.Pro418Ala)
19g.4816484G=CA2319604893TICAM1c.1894C= (p.Pro632=)
c.1477C= (p.Pro493=)
c.1852C= (p.Pro618=)
c.1759C= (p.Pro587=)
c.1252C= (p.Pro418=)
19g.4816484G>TCA403488605TICAM1c.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
19g.4816485T>ACA505174075TICAM1c.1893A>T (p.Pro631=)
c.1476A>T (p.Pro492=)
c.1851A>T (p.Pro617=)
c.1758A>T (p.Pro586=)
c.1251A>T (p.Pro417=)
19g.4816485T>CCA505174073TICAM1c.1893A>G (p.Pro631=)
c.1476A>G (p.Pro492=)
c.1851A>G (p.Pro617=)
c.1758A>G (p.Pro586=)
c.1251A>G (p.Pro417=)
19g.4816485T>GCA505174072TICAM1c.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
19g.4816486G>ACA403488606TICAM1c.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
19g.4816486G>CCA403488607TICAM1c.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
19g.4816486G=CA2319604894TICAM1c.1892C= (p.Pro631=)
c.1475C= (p.Pro492=)
c.1850C= (p.Pro617=)
c.1757C= (p.Pro586=)
c.1250C= (p.Pro417=)
19g.4816486G>TCA403488608TICAM1c.1892C>A (p.Pro631Gln)
c.1475C>A (p.Pro492Gln)
c.1850C>A (p.Pro617Gln)
c.1757C>A (p.Pro586Gln)
c.1250C>A (p.Pro417Gln)
19g.4816487G>ACA403488609TICAM1c.1891C>T (p.Pro631Ser)
c.1474C>T (p.Pro492Ser)
c.1849C>T (p.Pro617Ser)
c.1756C>T (p.Pro586Ser)
c.1249C>T (p.Pro417Ser)
19g.4816487G>CCA403488610TICAM1c.1891C>G (p.Pro631Ala)
c.1474C>G (p.Pro492Ala)
c.1849C>G (p.Pro617Ala)
c.1756C>G (p.Pro586Ala)
c.1249C>G (p.Pro417Ala)
19g.4816487G>TCA403488611TICAM1c.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
19g.4816488C>ACA505174076TICAM1c.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
19g.4816488C=CA2319604895TICAM1c.1890G= (p.Pro630=)
c.1473G= (p.Pro491=)
c.1848G= (p.Pro616=)
c.1755G= (p.Pro585=)
c.1248G= (p.Pro416=)
19g.4816488C>GCA505174077TICAM1c.1890G>C (p.Pro630=)
c.1473G>C (p.Pro491=)
c.1848G>C (p.Pro616=)
c.1755G>C (p.Pro585=)
c.1248G>C (p.Pro416=)
19g.4816488C>TCA9105042TICAM1c.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
19g.4816489G>ACA9105044TICAM1c.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
19g.4816489G>CCA403488612TICAM1c.1889C>G (p.Pro630Arg)
c.1472C>G (p.Pro491Arg)
c.1847C>G (p.Pro616Arg)
c.1754C>G (p.Pro585Arg)
c.1247C>G (p.Pro416Arg)
19g.4816489G=CA2319604896TICAM1c.1889C= (p.Pro630=)
c.1472C= (p.Pro491=)
c.1847C= (p.Pro616=)
c.1754C= (p.Pro585=)
c.1247C= (p.Pro416=)
19g.4816489G>TCA9105043TICAM1c.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
19g.4816490G>ACA403488614TICAM1c.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
19g.4816490G>CCA403488615TICAM1c.1888C>G (p.Pro630Ala)
c.1471C>G (p.Pro491Ala)
c.1846C>G (p.Pro616Ala)
c.1753C>G (p.Pro585Ala)
c.1246C>G (p.Pro416Ala)
19g.4816490G=CA2319604897TICAM1c.1888C= (p.Pro630=)
c.1471C= (p.Pro491=)
c.1846C= (p.Pro616=)
c.1753C= (p.Pro585=)
c.1246C= (p.Pro416=)
19g.4816490G>TCA403488613TICAM1c.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
19g.4816491C>ACA403488616TICAM1c.1887G>T (p.Gln629His)
c.1470G>T (p.Gln490His)
c.1845G>T (p.Gln615His)
c.1752G>T (p.Gln584His)
c.1245G>T (p.Gln415His)
19g.4816491C>GCA403488617TICAM1c.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
19g.4816491C>TCA505174084TICAM1c.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
19g.4816492T>ACA403488618TICAM1c.1886A>T (p.Gln629Leu)
c.1469A>T (p.Gln490Leu)
c.1844A>T (p.Gln615Leu)
c.1751A>T (p.Gln584Leu)
c.1244A>T (p.Gln415Leu)
19g.4816492T>CCA403488619TICAM1c.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
19g.4816492T>GCA403488620TICAM1c.1886A>C (p.Gln629Pro)
c.1469A>C (p.Gln490Pro)
c.1844A>C (p.Gln615Pro)
c.1751A>C (p.Gln584Pro)
c.1244A>C (p.Gln415Pro)
19g.4816493G>ACA403488621TICAM1c.1885C>T (p.Gln629Ter)
c.1468C>T (p.Gln490Ter)
c.1843C>T (p.Gln615Ter)
c.1750C>T (p.Gln584Ter)
c.1243C>T (p.Gln415Ter)
19g.4816493G>CCA403488622TICAM1c.1885C>G (p.Gln629Glu)
c.1468C>G (p.Gln490Glu)
c.1843C>G (p.Gln615Glu)
c.1750C>G (p.Gln584Glu)
c.1243C>G (p.Gln415Glu)
19g.4816493G>TCA403488623TICAM1c.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
19g.4816494C>ACA9105045TICAM1c.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
19g.4816494C=CA2319604898TICAM1c.1884G= (p.Pro628=)
c.1467G= (p.Pro489=)
c.1842G= (p.Pro614=)
c.1749G= (p.Pro583=)
c.1242G= (p.Pro414=)
19g.4816494C>GCA505174088TICAM1c.1884G>C (p.Pro628=)
c.1467G>C (p.Pro489=)
c.1842G>C (p.Pro614=)
c.1749G>C (p.Pro583=)
c.1242G>C (p.Pro414=)
19g.4816494C>TCA505174089TICAM1c.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
19g.4816495G>ACA9105046TICAM1c.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
19g.4816495G>CCA403488624TICAM1c.1883C>G (p.Pro628Arg)
c.1466C>G (p.Pro489Arg)
c.1841C>G (p.Pro614Arg)
c.1748C>G (p.Pro583Arg)
c.1241C>G (p.Pro414Arg)
19g.4816495G=CA2319604899TICAM1c.1883C= (p.Pro628=)
c.1466C= (p.Pro489=)
c.1841C= (p.Pro614=)
c.1748C= (p.Pro583=)
c.1241C= (p.Pro414=)
19g.4816495G>TCA403488625TICAM1c.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
19g.4816497delCA2576579900TICAM1c.1883del (p.Pro628ArgfsTer?)
c.1466del (p.Pro489ArgfsTer?)
c.1841del (p.Pro614ArgfsTer?)
c.1748del (p.Pro583ArgfsTer?)
c.1241del (p.Pro414ArgfsTer?)
19g.4816496G>ACA9105047TICAM1c.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
19g.4816496G>CCA403488626TICAM1c.1882C>G (p.Pro628Ala)
c.1465C>G (p.Pro489Ala)
c.1840C>G (p.Pro614Ala)
c.1747C>G (p.Pro583Ala)
c.1240C>G (p.Pro414Ala)
19g.4816496G=CA2319604900TICAM1c.1882C= (p.Pro628=)
c.1465C= (p.Pro489=)
c.1840C= (p.Pro614=)
c.1747C= (p.Pro583=)
c.1240C= (p.Pro414=)
19g.4816496G>TCA403488627TICAM1c.1882C>A (p.Pro628Thr)
c.1465C>A (p.Pro489Thr)
c.1840C>A (p.Pro614Thr)
c.1747C>A (p.Pro583Thr)
c.1240C>A (p.Pro414Thr)
19g.4816497G>ACA505174093TICAM1c.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
19g.4816497G>CCA403488628TICAM1c.1881C>G (p.Cys627Trp)
c.1464C>G (p.Cys488Trp)
c.1839C>G (p.Cys613Trp)
c.1746C>G (p.Cys582Trp)
c.1239C>G (p.Cys413Trp)
19g.4816497G>TCA403488629TICAM1c.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
19g.4816498C>ACA403488630TICAM1c.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
19g.4816498C>GCA403488631TICAM1c.1880G>C (p.Cys627Ser)
c.1463G>C (p.Cys488Ser)
c.1838G>C (p.Cys613Ser)
c.1745G>C (p.Cys582Ser)
c.1238G>C (p.Cys413Ser)
19g.4816498C>TCA403488632TICAM1c.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
19g.4816499A>CCA403488633TICAM1c.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
19g.4816499A>GCA403488634TICAM1c.1879T>C (p.Cys627Arg)
c.1462T>C (p.Cys488Arg)
c.1837T>C (p.Cys613Arg)
c.1744T>C (p.Cys582Arg)
c.1237T>C (p.Cys413Arg)
19g.4816499A>TCA403488635TICAM1c.1879T>A (p.Cys627Ser)
c.1462T>A (p.Cys488Ser)
c.1837T>A (p.Cys613Ser)
c.1744T>A (p.Cys582Ser)
c.1237T>A (p.Cys413Ser)
19g.4816500C>ACA505174096TICAM1c.1878G>T (p.Gly626=)
c.1461G>T (p.Gly487=)
c.1836G>T (p.Gly612=)
c.1743G>T (p.Gly581=)
c.1236G>T (p.Gly412=)
19g.4816500C>GCA505174097TICAM1c.1878G>C (p.Gly626=)
c.1461G>C (p.Gly487=)
c.1836G>C (p.Gly612=)
c.1743G>C (p.Gly581=)
c.1236G>C (p.Gly412=)
19g.4816500C>TCA505174098TICAM1c.1878G>A (p.Gly626=)
c.1461G>A (p.Gly487=)
c.1836G>A (p.Gly612=)
c.1743G>A (p.Gly581=)
c.1236G>A (p.Gly412=)
19g.4816503delCA2586031832TICAM1c.1878del (p.Cys627AlafsTer?)
c.1461del (p.Cys488AlafsTer?)
c.1836del (p.Cys613AlafsTer?)
c.1743del (p.Cys582AlafsTer?)
c.1236del (p.Cys413AlafsTer?)
gnomAD v4
19g.4816501C>ACA403488636TICAM1c.1877G>T (p.Gly626Val)
c.1460G>T (p.Gly487Val)
c.1835G>T (p.Gly612Val)
c.1742G>T (p.Gly581Val)
c.1235G>T (p.Gly412Val)
19g.4816501C>GCA403488637TICAM1c.1877G>C (p.Gly626Ala)
c.1460G>C (p.Gly487Ala)
c.1835G>C (p.Gly612Ala)
c.1742G>C (p.Gly581Ala)
c.1235G>C (p.Gly412Ala)
19g.4816501C>TCA403488638TICAM1c.1877G>A (p.Gly626Glu)
c.1460G>A (p.Gly487Glu)
c.1835G>A (p.Gly612Glu)
c.1742G>A (p.Gly581Glu)
c.1235G>A (p.Gly412Glu)
19g.4816502C>ACA403488639TICAM1c.1876G>T (p.Gly626Trp)
c.1459G>T (p.Gly487Trp)
c.1834G>T (p.Gly612Trp)
c.1741G>T (p.Gly581Trp)
c.1234G>T (p.Gly412Trp)
19g.4816502C>GCA403488640TICAM1c.1876G>C (p.Gly626Arg)
c.1459G>C (p.Gly487Arg)
c.1834G>C (p.Gly612Arg)
c.1741G>C (p.Gly581Arg)
c.1234G>C (p.Gly412Arg)
19g.4816502C>TCA403488641TICAM1c.1876G>A (p.Gly626Arg)
c.1459G>A (p.Gly487Arg)
c.1834G>A (p.Gly612Arg)
c.1741G>A (p.Gly581Arg)
c.1234G>A (p.Gly412Arg)
19g.4816503C>ACA505174100TICAM1c.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
19g.4816503C=CA2319604901TICAM1c.1875G= (p.Pro625=)
c.1458G= (p.Pro486=)
c.1833G= (p.Pro611=)
c.1740G= (p.Pro580=)
c.1233G= (p.Pro411=)
19g.4816503C>GCA505174101TICAM1c.1875G>C (p.Pro625=)
c.1458G>C (p.Pro486=)
c.1833G>C (p.Pro611=)
c.1740G>C (p.Pro580=)
c.1233G>C (p.Pro411=)
19g.4816503C>TCA9105048TICAM1c.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
19g.4816504G>ACA9105049TICAM1c.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
19g.4816504G>CCA403488642TICAM1c.1874C>G (p.Pro625Arg)
c.1457C>G (p.Pro486Arg)
c.1832C>G (p.Pro611Arg)
c.1739C>G (p.Pro580Arg)
c.1232C>G (p.Pro411Arg)
19g.4816504G=CA2319604902TICAM1c.1874C= (p.Pro625=)
c.1457C= (p.Pro486=)
c.1832C= (p.Pro611=)
c.1739C= (p.Pro580=)
c.1232C= (p.Pro411=)
19g.4816504G>TCA403488643TICAM1c.1874C>A (p.Pro625Gln)
c.1457C>A (p.Pro486Gln)
c.1832C>A (p.Pro611Gln)
c.1739C>A (p.Pro580Gln)
c.1232C>A (p.Pro411Gln)
19g.4816505G>ACA403488644TICAM1c.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
19g.4816505G>CCA403488645TICAM1c.1873C>G (p.Pro625Ala)
c.1456C>G (p.Pro486Ala)
c.1831C>G (p.Pro611Ala)
c.1738C>G (p.Pro580Ala)
c.1231C>G (p.Pro411Ala)
19g.4816505G>TCA403488646TICAM1c.1873C>A (p.Pro625Thr)
c.1456C>A (p.Pro486Thr)
c.1831C>A (p.Pro611Thr)
c.1738C>A (p.Pro580Thr)
c.1231C>A (p.Pro411Thr)
19g.4816506C>ACA403488647TICAM1c.1872G>T (p.Trp624Cys)
c.1455G>T (p.Trp485Cys)
c.1830G>T (p.Trp610Cys)
c.1737G>T (p.Trp579Cys)
c.1230G>T (p.Trp410Cys)
19g.4816506C>GCA403488648TICAM1c.1872G>C (p.Trp624Cys)
c.1455G>C (p.Trp485Cys)
c.1830G>C (p.Trp610Cys)
c.1737G>C (p.Trp579Cys)
c.1230G>C (p.Trp410Cys)
19g.4816506C>TCA403488649TICAM1c.1872G>A (p.Trp624Ter)
c.1455G>A (p.Trp485Ter)
c.1830G>A (p.Trp610Ter)
c.1737G>A (p.Trp579Ter)
c.1230G>A (p.Trp410Ter)
19g.4816507C>ACA403488650TICAM1c.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
19g.4816507C>GCA403488651TICAM1c.1871G>C (p.Trp624Ser)
c.1454G>C (p.Trp485Ser)
c.1829G>C (p.Trp610Ser)
c.1736G>C (p.Trp579Ser)
c.1229G>C (p.Trp410Ser)
19g.4816507C>TCA403488652TICAM1c.1871G>A (p.Trp624Ter)
c.1454G>A (p.Trp485Ter)
c.1829G>A (p.Trp610Ter)
c.1736G>A (p.Trp579Ter)
c.1229G>A (p.Trp410Ter)
19g.4816508A>CCA403488655TICAM1c.1870T>G (p.Trp624Gly)
c.1453T>G (p.Trp485Gly)
c.1828T>G (p.Trp610Gly)
c.1735T>G (p.Trp579Gly)
c.1228T>G (p.Trp410Gly)
19g.4816508A>GCA403488654TICAM1c.1870T>C (p.Trp624Arg)
c.1453T>C (p.Trp485Arg)
c.1828T>C (p.Trp610Arg)
c.1735T>C (p.Trp579Arg)
c.1228T>C (p.Trp410Arg)
19g.4816508A>TCA403488653TICAM1c.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
19g.4816509A>CCA505174111TICAM1c.1869T>G (p.Thr623=)
c.1452T>G (p.Thr484=)
c.1827T>G (p.Thr609=)
c.1734T>G (p.Thr578=)
c.1227T>G (p.Thr409=)
19g.4816509A>GCA505174109TICAM1c.1869T>C (p.Thr623=)
c.1452T>C (p.Thr484=)
c.1827T>C (p.Thr609=)
c.1734T>C (p.Thr578=)
c.1227T>C (p.Thr409=)
19g.4816509A>TCA505174106TICAM1c.1869T>A (p.Thr623=)
c.1452T>A (p.Thr484=)
c.1827T>A (p.Thr609=)
c.1734T>A (p.Thr578=)
c.1227T>A (p.Thr409=)
19g.4816510G>ACA9105050TICAM1c.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
19g.4816510G>CCA403488656TICAM1c.1868C>G (p.Thr623Ser)
c.1451C>G (p.Thr484Ser)
c.1826C>G (p.Thr609Ser)
c.1733C>G (p.Thr578Ser)
c.1226C>G (p.Thr409Ser)
19g.4816510G=CA2319604903TICAM1c.1868C= (p.Thr623=)
c.1451C= (p.Thr484=)
c.1826C= (p.Thr609=)
c.1733C= (p.Thr578=)
c.1226C= (p.Thr409=)
19g.4816510G>TCA403488657TICAM1c.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
19g.4816511T>ACA403488658TICAM1c.1867A>T (p.Thr623Ser)
c.1450A>T (p.Thr484Ser)
c.1825A>T (p.Thr609Ser)
c.1732A>T (p.Thr578Ser)
c.1225A>T (p.Thr409Ser)
19g.4816511T>CCA403488659TICAM1c.1867A>G (p.Thr623Ala)
c.1450A>G (p.Thr484Ala)
c.1825A>G (p.Thr609Ala)
c.1732A>G (p.Thr578Ala)
c.1225A>G (p.Thr409Ala)
19g.4816511T>GCA403488660TICAM1c.1867A>C (p.Thr623Pro)
c.1450A>C (p.Thr484Pro)
c.1825A>C (p.Thr609Pro)
c.1732A>C (p.Thr578Pro)
c.1225A>C (p.Thr409Pro)
19g.4816512G>ACA9105051TICAM1c.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
19g.4816512G>CCA505174116TICAM1c.1866C>G (p.Pro622=)
c.1449C>G (p.Pro483=)
c.1824C>G (p.Pro608=)
c.1731C>G (p.Pro577=)
c.1224C>G (p.Pro408=)
19g.4816512G=CA2319604904TICAM1c.1866C= (p.Pro622=)
c.1449C= (p.Pro483=)
c.1824C= (p.Pro608=)
c.1731C= (p.Pro577=)
c.1224C= (p.Pro408=)
19g.4816512G>TCA505174119TICAM1c.1866C>A (p.Pro622=)
c.1449C>A (p.Pro483=)
c.1824C>A (p.Pro608=)
c.1731C>A (p.Pro577=)
c.1224C>A (p.Pro408=)
19g.4816513G>ACA403488661TICAM1c.1865C>T (p.Pro622Leu)
c.1448C>T (p.Pro483Leu)
c.1823C>T (p.Pro608Leu)
c.1730C>T (p.Pro577Leu)
c.1223C>T (p.Pro408Leu)
19g.4816513G>CCA403488662TICAM1c.1865C>G (p.Pro622Arg)
c.1448C>G (p.Pro483Arg)
c.1823C>G (p.Pro608Arg)
c.1730C>G (p.Pro577Arg)
c.1223C>G (p.Pro408Arg)
19g.4816513G>TCA403488663TICAM1c.1865C>A (p.Pro622His)
c.1448C>A (p.Pro483His)
c.1823C>A (p.Pro608His)
c.1730C>A (p.Pro577His)
c.1223C>A (p.Pro408His)
19g.4816514G>ACA403488664TICAM1c.1864C>T (p.Pro622Ser)
c.1447C>T (p.Pro483Ser)
c.1822C>T (p.Pro608Ser)
c.1729C>T (p.Pro577Ser)
c.1222C>T (p.Pro408Ser)
19g.4816514G>CCA403488665TICAM1c.1864C>G (p.Pro622Ala)
c.1447C>G (p.Pro483Ala)
c.1822C>G (p.Pro608Ala)
c.1729C>G (p.Pro577Ala)
c.1222C>G (p.Pro408Ala)
19g.4816514G>TCA403488666TICAM1c.1864C>A (p.Pro622Thr)
c.1447C>A (p.Pro483Thr)
c.1822C>A (p.Pro608Thr)
c.1729C>A (p.Pro577Thr)
c.1222C>A (p.Pro408Thr)
19g.4816515A>CCA403488667TICAM1c.1863T>G (p.Phe621Leu)
c.1446T>G (p.Phe482Leu)
c.1821T>G (p.Phe607Leu)
c.1728T>G (p.Phe576Leu)
c.1221T>G (p.Phe407Leu)
19g.4816515A>GCA505174125TICAM1c.1863T>C (p.Phe621=)
c.1446T>C (p.Phe482=)
c.1821T>C (p.Phe607=)
c.1728T>C (p.Phe576=)
c.1221T>C (p.Phe407=)
19g.4816515A>TCA403488668TICAM1c.1863T>A (p.Phe621Leu)
c.1446T>A (p.Phe482Leu)
c.1821T>A (p.Phe607Leu)
c.1728T>A (p.Phe576Leu)
c.1221T>A (p.Phe407Leu)
19g.4816516A>CCA403488669TICAM1c.1862T>G (p.Phe621Cys)
c.1445T>G (p.Phe482Cys)
c.1820T>G (p.Phe607Cys)
c.1727T>G (p.Phe576Cys)
c.1220T>G (p.Phe407Cys)
19g.4816516A>GCA403488671TICAM1c.1862T>C (p.Phe621Ser)
c.1445T>C (p.Phe482Ser)
c.1820T>C (p.Phe607Ser)
c.1727T>C (p.Phe576Ser)
c.1220T>C (p.Phe407Ser)
19g.4816516A>TCA403488670TICAM1c.1862T>A (p.Phe621Tyr)
c.1445T>A (p.Phe482Tyr)
c.1820T>A (p.Phe607Tyr)
c.1727T>A (p.Phe576Tyr)
c.1220T>A (p.Phe407Tyr)
19g.4816517A>CCA403488672TICAM1c.1861T>G (p.Phe621Val)
c.1444T>G (p.Phe482Val)
c.1819T>G (p.Phe607Val)
c.1726T>G (p.Phe576Val)
c.1219T>G (p.Phe407Val)
19g.4816517A>GCA403488673TICAM1c.1861T>C (p.Phe621Leu)
c.1444T>C (p.Phe482Leu)
c.1819T>C (p.Phe607Leu)
c.1726T>C (p.Phe576Leu)
c.1219T>C (p.Phe407Leu)
19g.4816517A>TCA403488674TICAM1c.1861T>A (p.Phe621Ile)
c.1444T>A (p.Phe482Ile)
c.1819T>A (p.Phe607Ile)
c.1726T>A (p.Phe576Ile)
c.1219T>A (p.Phe407Ile)
19g.4816518G>ACA505174127TICAM1c.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
19g.4816518G>CCA505174129TICAM1c.1860C>G (p.Pro620=)
c.1443C>G (p.Pro481=)
c.1818C>G (p.Pro606=)
c.1725C>G (p.Pro575=)
c.1218C>G (p.Pro406=)
19g.4816518G>TCA505174130TICAM1c.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
19g.4816519G>ACA403488675TICAM1c.1859C>T (p.Pro620Leu)
c.1442C>T (p.Pro481Leu)
c.1817C>T (p.Pro606Leu)
c.1724C>T (p.Pro575Leu)
c.1217C>T (p.Pro406Leu)
19g.4816519G>CCA9105052TICAM1c.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
19g.4816519G=CA2319604905TICAM1c.1859C= (p.Pro620=)
c.1442C= (p.Pro481=)
c.1817C= (p.Pro606=)
c.1724C= (p.Pro575=)
c.1217C= (p.Pro406=)
19g.4816519G>TCA403488676TICAM1c.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
19g.4816520G>ACA9105053TICAM1c.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
19g.4816520G>CCA403488678TICAM1c.1858C>G (p.Pro620Ala)
c.1441C>G (p.Pro481Ala)
c.1816C>G (p.Pro606Ala)
c.1723C>G (p.Pro575Ala)
c.1216C>G (p.Pro406Ala)
19g.4816520G=CA2319604906TICAM1c.1858C= (p.Pro620=)
c.1441C= (p.Pro481=)
c.1816C= (p.Pro606=)
c.1723C= (p.Pro575=)
c.1216C= (p.Pro406=)
19g.4816520G>TCA403488677TICAM1c.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
19g.4816521T>ACA505174132TICAM1c.1857A>T (p.Pro619=)
c.1440A>T (p.Pro480=)
c.1815A>T (p.Pro605=)
c.1722A>T (p.Pro574=)
c.1215A>T (p.Pro405=)
19g.4816521T>CCA505174134TICAM1c.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
19g.4816521T>GCA505174133TICAM1c.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
19g.4816522G>ACA403488679TICAM1c.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
19g.4816522G>CCA403488680TICAM1c.1856C>G (p.Pro619Arg)
c.1439C>G (p.Pro480Arg)
c.1814C>G (p.Pro605Arg)
c.1721C>G (p.Pro574Arg)
c.1214C>G (p.Pro405Arg)
19g.4816522G=CA2319604907TICAM1c.1856C= (p.Pro619=)
c.1439C= (p.Pro480=)
c.1814C= (p.Pro605=)
c.1721C= (p.Pro574=)
c.1214C= (p.Pro405=)
19g.4816522G>TCA9105054TICAM1c.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
19g.4816523G>ACA403488681TICAM1c.1855C>T (p.Pro619Ser)
c.1438C>T (p.Pro480Ser)
c.1813C>T (p.Pro605Ser)
c.1720C>T (p.Pro574Ser)
c.1213C>T (p.Pro405Ser)
19g.4816523G>CCA403488682TICAM1c.1855C>G (p.Pro619Ala)
c.1438C>G (p.Pro480Ala)
c.1813C>G (p.Pro605Ala)
c.1720C>G (p.Pro574Ala)
c.1213C>G (p.Pro405Ala)
19g.4816523G=CA2319604908TICAM1c.1855C= (p.Pro619=)
c.1438C= (p.Pro480=)
c.1813C= (p.Pro605=)
c.1720C= (p.Pro574=)
c.1213C= (p.Pro405=)
19g.4816523G>TCA403488683TICAM1c.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
19g.4816524C>ACA505174137TICAM1c.1854G>T (p.Pro618=)
c.1437G>T (p.Pro479=)
c.1812G>T (p.Pro604=)
c.1719G>T (p.Pro573=)
c.1212G>T (p.Pro404=)
19g.4816524C=CA2319604909TICAM1c.1854G= (p.Pro618=)
c.1437G= (p.Pro479=)
c.1812G= (p.Pro604=)
c.1719G= (p.Pro573=)
c.1212G= (p.Pro404=)
19g.4816524C>GCA505174138TICAM1c.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
19g.4816524C>TCA9105055TICAM1c.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
19g.4816525G>ACA9105056TICAM1c.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
19g.4816525G>CCA403488685TICAM1c.1853C>G (p.Pro618Arg)
c.1436C>G (p.Pro479Arg)
c.1811C>G (p.Pro604Arg)
c.1718C>G (p.Pro573Arg)
c.1211C>G (p.Pro404Arg)
19g.4816525G=CA2319604910TICAM1c.1853C= (p.Pro618=)
c.1436C= (p.Pro479=)
c.1811C= (p.Pro604=)
c.1718C= (p.Pro573=)
c.1211C= (p.Pro404=)
19g.4816525G>TCA403488684TICAM1c.1853C>A (p.Pro618Gln)
c.1436C>A (p.Pro479Gln)
c.1811C>A (p.Pro604Gln)
c.1718C>A (p.Pro573Gln)
c.1211C>A (p.Pro404Gln)
19g.4816526G>ACA403488686TICAM1c.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
19g.4816526G>CCA403488687TICAM1c.1852C>G (p.Pro618Ala)
c.1435C>G (p.Pro479Ala)
c.1810C>G (p.Pro604Ala)
c.1717C>G (p.Pro573Ala)
c.1210C>G (p.Pro404Ala)
19g.4816526G=CA2319604911TICAM1c.1852C= (p.Pro618=)
c.1435C= (p.Pro479=)
c.1810C= (p.Pro604=)
c.1717C= (p.Pro573=)
c.1210C= (p.Pro404=)
19g.4816526G>TCA403488688TICAM1c.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
19g.4816527G>ACA505174140TICAM1c.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
19g.4816527G>CCA505174141TICAM1c.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
19g.4816527G=CA2319604912TICAM1c.1851C= (p.Ala617=)
c.1434C= (p.Ala478=)
c.1809C= (p.Ala603=)
c.1716C= (p.Ala572=)
c.1209C= (p.Ala403=)
19g.4816527G>TCA505174142TICAM1c.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
19g.4816528G>ACA403488689TICAM1c.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
19g.4816528G>CCA403488690TICAM1c.1850C>G (p.Ala617Gly)
c.1433C>G (p.Ala478Gly)
c.1808C>G (p.Ala603Gly)
c.1715C>G (p.Ala572Gly)
c.1208C>G (p.Ala403Gly)
19g.4816528G>TCA403488691TICAM1c.1850C>A (p.Ala617Asp)
c.1433C>A (p.Ala478Asp)
c.1808C>A (p.Ala603Asp)
c.1715C>A (p.Ala572Asp)
c.1208C>A (p.Ala403Asp)
19g.4816529C>ACA403488692TICAM1c.1849G>T (p.Ala617Ser)
c.1432G>T (p.Ala478Ser)
c.1807G>T (p.Ala603Ser)
c.1714G>T (p.Ala572Ser)
c.1207G>T (p.Ala403Ser)
19g.4816529C>GCA403488693TICAM1c.1849G>C (p.Ala617Pro)
c.1432G>C (p.Ala478Pro)
c.1807G>C (p.Ala603Pro)
c.1714G>C (p.Ala572Pro)
c.1207G>C (p.Ala403Pro)
19g.4816529C>TCA403488694TICAM1c.1849G>A (p.Ala617Thr)
c.1432G>A (p.Ala478Thr)
c.1807G>A (p.Ala603Thr)
c.1714G>A (p.Ala572Thr)
c.1207G>A (p.Ala403Thr)
19g.4816530T>ACA505174148TICAM1c.1848A>T (p.Gly616=)
c.1431A>T (p.Gly477=)
c.1806A>T (p.Gly602=)
c.1713A>T (p.Gly571=)
c.1206A>T (p.Gly402=)
19g.4816530T>CCA505174146TICAM1c.1848A>G (p.Gly616=)
c.1431A>G (p.Gly477=)
c.1806A>G (p.Gly602=)
c.1713A>G (p.Gly571=)
c.1206A>G (p.Gly402=)
19g.4816530T>GCA505174147TICAM1c.1848A>C (p.Gly616=)
c.1431A>C (p.Gly477=)
c.1806A>C (p.Gly602=)
c.1713A>C (p.Gly571=)
c.1206A>C (p.Gly402=)
19g.4816530T=CA2319604913TICAM1c.1848A= (p.Gly616=)
c.1431A= (p.Gly477=)
c.1806A= (p.Gly602=)
c.1713A= (p.Gly571=)
c.1206A= (p.Gly402=)
19g.4816531C>ACA403488695TICAM1c.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
19g.4816531C=CA2319604914TICAM1c.1847G= (p.Gly616=)
c.1430G= (p.Gly477=)
c.1805G= (p.Gly602=)
c.1712G= (p.Gly571=)
c.1205G= (p.Gly402=)
19g.4816531C>GCA403488696TICAM1c.1847G>C (p.Gly616Ala)
c.1430G>C (p.Gly477Ala)
c.1805G>C (p.Gly602Ala)
c.1712G>C (p.Gly571Ala)
c.1205G>C (p.Gly402Ala)
19g.4816531C>TCA403488697TICAM1c.1847G>A (p.Gly616Glu)
c.1430G>A (p.Gly477Glu)
c.1805G>A (p.Gly602Glu)
c.1712G>A (p.Gly571Glu)
c.1205G>A (p.Gly402Glu)
19g.4816533dupCA631717166TICAM1c.1847dup (p.Ala617SerfsTer?)
c.1430dup (p.Ala478SerfsTer?)
c.1805dup (p.Ala603SerfsTer?)
c.1712dup (p.Ala572SerfsTer?)
c.1205dup (p.Ala403SerfsTer?)
dbSNP gnomAD v2 gnomAD v4
19g.4816532C>ACA403488698TICAM1c.1846G>T (p.Gly616Ter)
c.1429G>T (p.Gly477Ter)
c.1804G>T (p.Gly602Ter)
c.1711G>T (p.Gly571Ter)
c.1204G>T (p.Gly402Ter)
19g.4816532C>GCA403488700TICAM1c.1846G>C (p.Gly616Arg)
c.1429G>C (p.Gly477Arg)
c.1804G>C (p.Gly602Arg)
c.1711G>C (p.Gly571Arg)
c.1204G>C (p.Gly402Arg)
19g.4816532C>TCA403488699TICAM1c.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
19g.4816533C>ACA505174153TICAM1c.1845G>T (p.Leu615=)
c.1428G>T (p.Leu476=)
c.1803G>T (p.Leu601=)
c.1710G>T (p.Leu570=)
c.1203G>T (p.Leu401=)
19g.4816533C>GCA505174154TICAM1c.1845G>C (p.Leu615=)
c.1428G>C (p.Leu476=)
c.1803G>C (p.Leu601=)
c.1710G>C (p.Leu570=)
c.1203G>C (p.Leu401=)
19g.4816533C>TCA505174155TICAM1c.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
19g.4816534A>CCA403488701TICAM1c.1844T>G (p.Leu615Arg)
c.1427T>G (p.Leu476Arg)
c.1802T>G (p.Leu601Arg)
c.1709T>G (p.Leu570Arg)
c.1202T>G (p.Leu401Arg)
19g.4816534A>GCA403488702TICAM1c.1844T>C (p.Leu615Pro)
c.1427T>C (p.Leu476Pro)
c.1802T>C (p.Leu601Pro)
c.1709T>C (p.Leu570Pro)
c.1202T>C (p.Leu401Pro)
19g.4816534A>TCA403488703TICAM1c.1844T>A (p.Leu615Gln)
c.1427T>A (p.Leu476Gln)
c.1802T>A (p.Leu601Gln)
c.1709T>A (p.Leu570Gln)
c.1202T>A (p.Leu401Gln)
19g.4816535G>ACA505174159TICAM1c.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
19g.4816535G>CCA403488704TICAM1c.1843C>G (p.Leu615Val)
c.1426C>G (p.Leu476Val)
c.1801C>G (p.Leu601Val)
c.1708C>G (p.Leu570Val)
c.1201C>G (p.Leu401Val)
19g.4816535G>TCA403488705TICAM1c.1843C>A (p.Leu615Met)
c.1426C>A (p.Leu476Met)
c.1801C>A (p.Leu601Met)
c.1708C>A (p.Leu570Met)
c.1201C>A (p.Leu401Met)
19g.4816536G>ACA505174160TICAM1c.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
19g.4816536G>CCA9105057TICAM1c.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
19g.4816536G=CA2319604915TICAM1c.1842C= (p.Pro614=)
c.1425C= (p.Pro475=)
c.1800C= (p.Pro600=)
c.1707C= (p.Pro569=)
c.1200C= (p.Pro400=)
19g.4816536G>TCA505174162TICAM1c.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
19g.4816537G>ACA403488706TICAM1c.1841C>T (p.Pro614Leu)
c.1424C>T (p.Pro475Leu)
c.1799C>T (p.Pro600Leu)
c.1706C>T (p.Pro569Leu)
c.1199C>T (p.Pro400Leu)
19g.4816537G>CCA403488707TICAM1c.1841C>G (p.Pro614Arg)
c.1424C>G (p.Pro475Arg)
c.1799C>G (p.Pro600Arg)
c.1706C>G (p.Pro569Arg)
c.1199C>G (p.Pro400Arg)
19g.4816537G>TCA403488708TICAM1c.1841C>A (p.Pro614His)
c.1424C>A (p.Pro475His)
c.1799C>A (p.Pro600His)
c.1706C>A (p.Pro569His)
c.1199C>A (p.Pro400His)
19g.4816538G>ACA403488709TICAM1c.1840C>T (p.Pro614Ser)
c.1423C>T (p.Pro475Ser)
c.1798C>T (p.Pro600Ser)
c.1705C>T (p.Pro569Ser)
c.1198C>T (p.Pro400Ser)
19g.4816538G>CCA403488710TICAM1c.1840C>G (p.Pro614Ala)
c.1423C>G (p.Pro475Ala)
c.1798C>G (p.Pro600Ala)
c.1705C>G (p.Pro569Ala)
c.1198C>G (p.Pro400Ala)
19g.4816538G>TCA403488711TICAM1c.1840C>A (p.Pro614Thr)
c.1423C>A (p.Pro475Thr)
c.1798C>A (p.Pro600Thr)
c.1705C>A (p.Pro569Thr)
c.1198C>A (p.Pro400Thr)
19g.4816539C>ACA9105058TICAM1c.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
19g.4816539C=CA2319604916TICAM1c.1839G= (p.Val613=)
c.1422G= (p.Val474=)
c.1797G= (p.Val599=)
c.1704G= (p.Val568=)
c.1197G= (p.Val399=)
19g.4816539C>GCA505174165TICAM1c.1839G>C (p.Val613=)
c.1422G>C (p.Val474=)
c.1797G>C (p.Val599=)
c.1704G>C (p.Val568=)
c.1197G>C (p.Val399=)
19g.4816539C>TCA505174166TICAM1c.1839G>A (p.Val613=)
c.1422G>A (p.Val474=)
c.1797G>A (p.Val599=)
c.1704G>A (p.Val568=)
c.1197G>A (p.Val399=)
19g.4816540A>CCA403488714TICAM1c.1838T>G (p.Val613Gly)
c.1421T>G (p.Val474Gly)
c.1796T>G (p.Val599Gly)
c.1703T>G (p.Val568Gly)
c.1196T>G (p.Val399Gly)
19g.4816540A>GCA403488712TICAM1c.1838T>C (p.Val613Ala)
c.1421T>C (p.Val474Ala)
c.1796T>C (p.Val599Ala)
c.1703T>C (p.Val568Ala)
c.1196T>C (p.Val399Ala)
19g.4816540A>TCA403488713TICAM1c.1838T>A (p.Val613Glu)
c.1421T>A (p.Val474Glu)
c.1796T>A (p.Val599Glu)
c.1703T>A (p.Val568Glu)
c.1196T>A (p.Val399Glu)
19g.4816541C>ACA403488715TICAM1c.1837G>T (p.Val613Leu)
c.1420G>T (p.Val474Leu)
c.1795G>T (p.Val599Leu)
c.1702G>T (p.Val568Leu)
c.1195G>T (p.Val399Leu)
19g.4816541C>GCA403488716TICAM1c.1837G>C (p.Val613Leu)
c.1420G>C (p.Val474Leu)
c.1795G>C (p.Val599Leu)
c.1702G>C (p.Val568Leu)
c.1195G>C (p.Val399Leu)
19g.4816541C>TCA403488717TICAM1c.1837G>A (p.Val613Met)
c.1420G>A (p.Val474Met)
c.1795G>A (p.Val599Met)
c.1702G>A (p.Val568Met)
c.1195G>A (p.Val399Met)
19g.4816542C>ACA403488718TICAM1c.1836G>T (p.Gln612His)
c.1419G>T (p.Gln473His)
c.1794G>T (p.Gln598His)
c.1701G>T (p.Gln567His)
c.1194G>T (p.Gln398His)
19g.4816542C>GCA403488719TICAM1c.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
19g.4816542C>TCA505174169TICAM1c.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
19g.4816543T>ACA403488720TICAM1c.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
19g.4816543T>CCA403488721TICAM1c.1835A>G (p.Gln612Arg)
c.1418A>G (p.Gln473Arg)
c.1793A>G (p.Gln598Arg)
c.1700A>G (p.Gln567Arg)
c.1193A>G (p.Gln398Arg)
19g.4816543T>GCA403488722TICAM1c.1835A>C (p.Gln612Pro)
c.1418A>C (p.Gln473Pro)
c.1793A>C (p.Gln598Pro)
c.1700A>C (p.Gln567Pro)
c.1193A>C (p.Gln398Pro)
19g.4816543T=CA2319604917TICAM1c.1835A= (p.Gln612=)
c.1418A= (p.Gln473=)
c.1793A= (p.Gln598=)
c.1700A= (p.Gln567=)
c.1193A= (p.Gln398=)
19g.4816544G>ACA403488723TICAM1c.1834C>T (p.Gln612Ter)
c.1417C>T (p.Gln473Ter)
c.1792C>T (p.Gln598Ter)
c.1699C>T (p.Gln567Ter)
c.1192C>T (p.Gln398Ter)
19g.4816544G>CCA403488724TICAM1c.1834C>G (p.Gln612Glu)
c.1417C>G (p.Gln473Glu)
c.1792C>G (p.Gln598Glu)
c.1699C>G (p.Gln567Glu)
c.1192C>G (p.Gln398Glu)
19g.4816544G>TCA403488725TICAM1c.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
19g.4816545G>ACA505174173TICAM1c.1833C>T (p.Gly611=)
c.1416C>T (p.Gly472=)
c.1791C>T (p.Gly597=)
c.1698C>T (p.Gly566=)
c.1191C>T (p.Gly397=)
19g.4816545G>CCA505174174TICAM1c.1833C>G (p.Gly611=)
c.1416C>G (p.Gly472=)
c.1791C>G (p.Gly597=)
c.1698C>G (p.Gly566=)
c.1191C>G (p.Gly397=)
19g.4816545G>TCA505174175TICAM1c.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
19g.4816545_4816546delinsGCCA2319604918TICAM1c.1832_1833delinsGC (p.Gly611=)
c.1415_1416delinsGC (p.Gly472=)
c.1790_1791delinsGC (p.Gly597=)
c.1697_1698delinsGC (p.Gly566=)
c.1190_1191delinsGC (p.Gly397=)
19g.4816546C>ACA403488726TICAM1c.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
19g.4816546C=CA2319604920TICAM1c.1832G= (p.Gly611=)
c.1415G= (p.Gly472=)
c.1790G= (p.Gly597=)
c.1697G= (p.Gly566=)
c.1190G= (p.Gly397=)
19g.4816546C>GCA403488727TICAM1c.1832G>C (p.Gly611Ala)
c.1415G>C (p.Gly472Ala)
c.1790G>C (p.Gly597Ala)
c.1697G>C (p.Gly566Ala)
c.1190G>C (p.Gly397Ala)
19g.4816546C>TCA9105059TICAM1c.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
19g.4816550dupCA2319604919TICAM1c.1832dup (p.Gln612ProfsTer?)
c.1415dup (p.Gln473ProfsTer?)
c.1790dup (p.Gln598ProfsTer?)
c.1697dup (p.Gln567ProfsTer?)
c.1190dup (p.Gln398ProfsTer?)
dbSNP gnomAD v4
19g.4816550delCA631717167TICAM1c.1832del (p.Gly611AlafsTer?)
c.1415del (p.Gly472AlafsTer?)
c.1790del (p.Gly597AlafsTer?)
c.1697del (p.Gly566AlafsTer?)
c.1190del (p.Gly397AlafsTer?)
dbSNP gnomAD v2 gnomAD v4
19g.4816549_4816550delCA2576579901TICAM1c.1831_1832del (p.Gly611ProfsTer?)
c.1414_1415del (p.Gly472ProfsTer?)
c.1789_1790del (p.Gly597ProfsTer?)
c.1696_1697del (p.Gly566ProfsTer?)
c.1189_1190del (p.Gly397ProfsTer?)
19g.4816547C>ACA403488728TICAM1c.1831G>T (p.Gly611Cys)
c.1414G>T (p.Gly472Cys)
c.1789G>T (p.Gly597Cys)
c.1696G>T (p.Gly566Cys)
c.1189G>T (p.Gly397Cys)
19g.4816547C=CA2319604921TICAM1c.1831G= (p.Gly611=)
c.1414G= (p.Gly472=)
c.1789G= (p.Gly597=)
c.1696G= (p.Gly566=)
c.1189G= (p.Gly397=)
19g.4816547C>GCA403488729TICAM1c.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
19g.4816547C>TCA9105060TICAM1c.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
19g.4816548C>ACA505174177TICAM1c.1830G>T (p.Gly610=)
c.1413G>T (p.Gly471=)
c.1788G>T (p.Gly596=)
c.1695G>T (p.Gly565=)
c.1188G>T (p.Gly396=)
19g.4816548C=CA2319604922TICAM1c.1830G= (p.Gly610=)
c.1413G= (p.Gly471=)
c.1788G= (p.Gly596=)
c.1695G= (p.Gly565=)
c.1188G= (p.Gly396=)
19g.4816548C>GCA505174179TICAM1c.1830G>C (p.Gly610=)
c.1413G>C (p.Gly471=)
c.1788G>C (p.Gly596=)
c.1695G>C (p.Gly565=)
c.1188G>C (p.Gly396=)
19g.4816548C>TCA505174180TICAM1c.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
19g.4816549C>ACA403488730TICAM1c.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
19g.4816549C>GCA403488731TICAM1c.1829G>C (p.Gly610Ala)
c.1412G>C (p.Gly471Ala)
c.1787G>C (p.Gly596Ala)
c.1694G>C (p.Gly565Ala)
c.1187G>C (p.Gly396Ala)
19g.4816549C>TCA403488732TICAM1c.1829G>A (p.Gly610Glu)
c.1412G>A (p.Gly471Glu)
c.1787G>A (p.Gly596Glu)
c.1694G>A (p.Gly565Glu)
c.1187G>A (p.Gly396Glu)
19g.4816550C>ACA403488735TICAM1c.1828G>T (p.Gly610Trp)
c.1411G>T (p.Gly471Trp)
c.1786G>T (p.Gly596Trp)
c.1693G>T (p.Gly565Trp)
c.1186G>T (p.Gly396Trp)
19g.4816550C=CA2319604923TICAM1c.1828G= (p.Gly610=)
c.1411G= (p.Gly471=)
c.1786G= (p.Gly596=)
c.1693G= (p.Gly565=)
c.1186G= (p.Gly396=)
19g.4816550C>GCA403488733TICAM1c.1828G>C (p.Gly610Arg)
c.1411G>C (p.Gly471Arg)
c.1786G>C (p.Gly596Arg)
c.1693G>C (p.Gly565Arg)
c.1186G>C (p.Gly396Arg)
19g.4816550C>TCA403488734TICAM1c.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
19g.4816551A=CA2319604924TICAM1c.1827T= (p.Phe609=)
c.1410T= (p.Phe470=)
c.1785T= (p.Phe595=)
c.1692T= (p.Phe564=)
c.1185T= (p.Phe395=)
19g.4816551A>CCA9105061TICAM1c.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
19g.4816551A>GCA505174183TICAM1c.1827T>C (p.Phe609=)
c.1410T>C (p.Phe470=)
c.1785T>C (p.Phe595=)
c.1692T>C (p.Phe564=)
c.1185T>C (p.Phe395=)
19g.4816551A>TCA403488736TICAM1c.1827T>A (p.Phe609Leu)
c.1410T>A (p.Phe470Leu)
c.1785T>A (p.Phe595Leu)
c.1692T>A (p.Phe564Leu)
c.1185T>A (p.Phe395Leu)

Number of alleles fetched