Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.4816373_4816391delinsCGGGTGAGGCCGTAGGGAACA2319604840TICAM1c.1987_2005delinsTTCCCTACGGCCTCACCCG (p.Phe663=)
c.1489_1507delinsTTCCCTACGGCCTCACCCG (p.Phe497=)
c.1945_1963delinsTTCCCTACGGCCTCACCCG (p.Phe649=)
c.1852_1870delinsTTCCCTACGGCCTCACCCG (p.Phe618=)
c.1345_1363delinsTTCCCTACGGCCTCACCCG (p.Phe449=)
19g.4816376_4816393delCA882980593TICAM1c.1987_2004del (p.Phe663_Pro668del)
c.1489_1506del (p.Phe497_Pro502del)
c.1945_1962del (p.Phe649_Pro654del)
c.1852_1869del (p.Phe618_Pro623del)
c.1345_1362del (p.Phe449_Pro454del)
dbSNP
19g.4816386_4816404delinsAGGGAAGGCTGGGGACTGCCA2319604847TICAM1c.1974_1992delinsGCAGTCCCCAGCCTTCCCT (p.Pro658=)
c.1480-4_1494delinsGCAGTCCCCAGCCTTCCCT
c.1932_1950delinsGCAGTCCCCAGCCTTCCCT (p.Pro644=)
c.1839_1857delinsGCAGTCCCCAGCCTTCCCT (p.Pro613=)
c.1332_1350delinsGCAGTCCCCAGCCTTCCCT (p.Pro444=)
19g.4816394_4816411delCA9105018TICAM1c.1974_1991del (p.Gln659_Pro664del)
c.1480-4_1493del
c.1932_1949del (p.Gln645_Pro650del)
c.1839_1856del (p.Gln614_Pro619del)
c.1332_1349del (p.Gln445_Pro450del)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816390A>CCA403488416TICAM1c.1988T>G (p.Phe663Cys)
c.1490T>G (p.Phe497Cys)
c.1946T>G (p.Phe649Cys)
c.1853T>G (p.Phe618Cys)
c.1346T>G (p.Phe449Cys)
19g.4816390A>GCA403488417TICAM1c.1988T>C (p.Phe663Ser)
c.1490T>C (p.Phe497Ser)
c.1946T>C (p.Phe649Ser)
c.1853T>C (p.Phe618Ser)
c.1346T>C (p.Phe449Ser)
19g.4816390A>TCA403488415TICAM1c.1988T>A (p.Phe663Tyr)
c.1490T>A (p.Phe497Tyr)
c.1946T>A (p.Phe649Tyr)
c.1853T>A (p.Phe618Tyr)
c.1346T>A (p.Phe449Tyr)
19g.4816391delCA2586031825TICAM1c.1988del (p.Phe663SerfsTer29)
c.1490del (p.Phe497SerfsTer29)
c.1946del (p.Phe649SerfsTer29)
c.1853del (p.Phe618SerfsTer29)
c.1346del (p.Phe449SerfsTer29)
gnomAD v4
19g.4816391A>CCA403488418TICAM1c.1987T>G (p.Phe663Val)
c.1489T>G (p.Phe497Val)
c.1945T>G (p.Phe649Val)
c.1852T>G (p.Phe618Val)
c.1345T>G (p.Phe449Val)
19g.4816391A>GCA403488419TICAM1c.1987T>C (p.Phe663Leu)
c.1489T>C (p.Phe497Leu)
c.1945T>C (p.Phe649Leu)
c.1852T>C (p.Phe618Leu)
c.1345T>C (p.Phe449Leu)
19g.4816391A>TCA403488420TICAM1c.1987T>A (p.Phe663Ile)
c.1489T>A (p.Phe497Ile)
c.1945T>A (p.Phe649Ile)
c.1852T>A (p.Phe618Ile)
c.1345T>A (p.Phe449Ile)
19g.4816392G>ACA505173848TICAM1c.1986C>T (p.Ala662=)
c.1488C>T (p.Ala496=)
c.1944C>T (p.Ala648=)
c.1851C>T (p.Ala617=)
c.1344C>T (p.Ala448=)
dbSNP gnomAD v2 gnomAD v4
19g.4816392G>CCA505173849TICAM1c.1986C>G (p.Ala662=)
c.1488C>G (p.Ala496=)
c.1944C>G (p.Ala648=)
c.1851C>G (p.Ala617=)
c.1344C>G (p.Ala448=)
dbSNP gnomAD v2 gnomAD v4
19g.4816392G=CA2319604848TICAM1c.1986C= (p.Ala662=)
c.1488C= (p.Ala496=)
c.1944C= (p.Ala648=)
c.1851C= (p.Ala617=)
c.1344C= (p.Ala448=)
19g.4816392G>TCA505173850TICAM1c.1986C>A (p.Ala662=)
c.1488C>A (p.Ala496=)
c.1944C>A (p.Ala648=)
c.1851C>A (p.Ala617=)
c.1344C>A (p.Ala448=)
gnomAD v4
19g.4816393G>ACA403488421TICAM1c.1985C>T (p.Ala662Val)
c.1487C>T (p.Ala496Val)
c.1943C>T (p.Ala648Val)
c.1850C>T (p.Ala617Val)
c.1343C>T (p.Ala448Val)
gnomAD v4
19g.4816393G>CCA403488422TICAM1c.1985C>G (p.Ala662Gly)
c.1487C>G (p.Ala496Gly)
c.1943C>G (p.Ala648Gly)
c.1850C>G (p.Ala617Gly)
c.1343C>G (p.Ala448Gly)
gnomAD v4
19g.4816393G>TCA403488423TICAM1c.1985C>A (p.Ala662Asp)
c.1487C>A (p.Ala496Asp)
c.1943C>A (p.Ala648Asp)
c.1850C>A (p.Ala617Asp)
c.1343C>A (p.Ala448Asp)
gnomAD v4
19g.4816394C>ACA403488425TICAM1c.1984G>T (p.Ala662Ser)
c.1486G>T (p.Ala496Ser)
c.1942G>T (p.Ala648Ser)
c.1849G>T (p.Ala617Ser)
c.1342G>T (p.Ala448Ser)
gnomAD v4
19g.4816394C=CA2319604849TICAM1c.1984G= (p.Ala662=)
c.1486G= (p.Ala496=)
c.1942G= (p.Ala648=)
c.1849G= (p.Ala617=)
c.1342G= (p.Ala448=)
19g.4816394C>GCA403488424TICAM1c.1984G>C (p.Ala662Pro)
c.1486G>C (p.Ala496Pro)
c.1942G>C (p.Ala648Pro)
c.1849G>C (p.Ala617Pro)
c.1342G>C (p.Ala448Pro)
19g.4816394C>TCA9105019TICAM1c.1984G>A (p.Ala662Thr)
c.1486G>A (p.Ala496Thr)
c.1942G>A (p.Ala648Thr)
c.1849G>A (p.Ala617Thr)
c.1342G>A (p.Ala448Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816395T>ACA505173853TICAM1c.1983A>T (p.Pro661=)
c.1485A>T (p.Pro495=)
c.1941A>T (p.Pro647=)
c.1848A>T (p.Pro616=)
c.1341A>T (p.Pro447=)
19g.4816395T>CCA505173855TICAM1c.1983A>G (p.Pro661=)
c.1485A>G (p.Pro495=)
c.1941A>G (p.Pro647=)
c.1848A>G (p.Pro616=)
c.1341A>G (p.Pro447=)
gnomAD v4
19g.4816395T>GCA505173854TICAM1c.1983A>C (p.Pro661=)
c.1485A>C (p.Pro495=)
c.1941A>C (p.Pro647=)
c.1848A>C (p.Pro616=)
c.1341A>C (p.Pro447=)
19g.4816396G>ACA403488426TICAM1c.1982C>T (p.Pro661Leu)
c.1484C>T (p.Pro495Leu)
c.1940C>T (p.Pro647Leu)
c.1847C>T (p.Pro616Leu)
c.1340C>T (p.Pro447Leu)
dbSNP gnomAD v2 gnomAD v4
19g.4816396G>CCA403488427TICAM1c.1982C>G (p.Pro661Arg)
c.1484C>G (p.Pro495Arg)
c.1940C>G (p.Pro647Arg)
c.1847C>G (p.Pro616Arg)
c.1340C>G (p.Pro447Arg)
19g.4816396G=CA2319604850TICAM1c.1982C= (p.Pro661=)
c.1484C= (p.Pro495=)
c.1940C= (p.Pro647=)
c.1847C= (p.Pro616=)
c.1340C= (p.Pro447=)
19g.4816396G>TCA403488428TICAM1c.1982C>A (p.Pro661Gln)
c.1484C>A (p.Pro495Gln)
c.1940C>A (p.Pro647Gln)
c.1847C>A (p.Pro616Gln)
c.1340C>A (p.Pro447Gln)
19g.4816399delCA2586031826TICAM1c.1982del (p.Pro661GlnfsTer?)
c.1484del (p.Pro495GlnfsTer?)
c.1940del (p.Pro647GlnfsTer?)
c.1847del (p.Pro616GlnfsTer?)
c.1340del (p.Pro447GlnfsTer?)
gnomAD v4
19g.4816397G>ACA403488429TICAM1c.1981C>T (p.Pro661Ser)
c.1483C>T (p.Pro495Ser)
c.1939C>T (p.Pro647Ser)
c.1846C>T (p.Pro616Ser)
c.1339C>T (p.Pro447Ser)
gnomAD v4
19g.4816397G>CCA403488430TICAM1c.1981C>G (p.Pro661Ala)
c.1483C>G (p.Pro495Ala)
c.1939C>G (p.Pro647Ala)
c.1846C>G (p.Pro616Ala)
c.1339C>G (p.Pro447Ala)
19g.4816397G>TCA403488431TICAM1c.1981C>A (p.Pro661Thr)
c.1483C>A (p.Pro495Thr)
c.1939C>A (p.Pro647Thr)
c.1846C>A (p.Pro616Thr)
c.1339C>A (p.Pro447Thr)
gnomAD v4
19g.4816398G>ACA505173857TICAM1c.1980C>T (p.Ser660=)
c.1482C>T (p.Ser494=)
c.1938C>T (p.Ser646=)
c.1845C>T (p.Ser615=)
c.1338C>T (p.Ser446=)
gnomAD v4
19g.4816398G>CCA304546957TICAM1c.1980C>G (p.Ser660=)
c.1482C>G (p.Ser494=)
c.1938C>G (p.Ser646=)
c.1845C>G (p.Ser615=)
c.1338C>G (p.Ser446=)
dbSNP
19g.4816398G=CA2319604851TICAM1c.1980C= (p.Ser660=)
c.1482C= (p.Ser494=)
c.1938C= (p.Ser646=)
c.1845C= (p.Ser615=)
c.1338C= (p.Ser446=)
19g.4816398G>TCA505173859TICAM1c.1980C>A (p.Ser660=)
c.1482C>A (p.Ser494=)
c.1938C>A (p.Ser646=)
c.1845C>A (p.Ser615=)
c.1338C>A (p.Ser446=)
19g.4816399G>ACA403488433TICAM1c.1979C>T (p.Ser660Phe)
c.1481C>T (p.Ser494Phe)
c.1937C>T (p.Ser646Phe)
c.1844C>T (p.Ser615Phe)
c.1337C>T (p.Ser446Phe)
dbSNP gnomAD v2 gnomAD v4
19g.4816399G>CCA403488432TICAM1c.1979C>G (p.Ser660Cys)
c.1481C>G (p.Ser494Cys)
c.1937C>G (p.Ser646Cys)
c.1844C>G (p.Ser615Cys)
c.1337C>G (p.Ser446Cys)
19g.4816399G=CA2319604852TICAM1c.1979C= (p.Ser660=)
c.1481C= (p.Ser494=)
c.1937C= (p.Ser646=)
c.1844C= (p.Ser615=)
c.1337C= (p.Ser446=)
19g.4816399G>TCA9105020TICAM1c.1979C>A (p.Ser660Tyr)
c.1481C>A (p.Ser494Tyr)
c.1937C>A (p.Ser646Tyr)
c.1844C>A (p.Ser615Tyr)
c.1337C>A (p.Ser446Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816400A=CA2319604853TICAM1c.1978T= (p.Ser660=)
c.1480T= (p.Ser494=)
c.1936T= (p.Ser646=)
c.1843T= (p.Ser615=)
c.1336T= (p.Ser446=)
19g.4816400A>CCA403488435TICAM1c.1978T>G (p.Ser660Ala)
c.1480T>G (p.Ser494Ala)
c.1936T>G (p.Ser646Ala)
c.1843T>G (p.Ser615Ala)
c.1336T>G (p.Ser446Ala)
19g.4816400A>GCA403488434TICAM1c.1978T>C (p.Ser660Pro)
c.1480T>C (p.Ser494Pro)
c.1936T>C (p.Ser646Pro)
c.1843T>C (p.Ser615Pro)
c.1336T>C (p.Ser446Pro)
dbSNP gnomAD v2 gnomAD v4
19g.4816400A>TCA403488436TICAM1c.1978T>A (p.Ser660Thr)
c.1480T>A (p.Ser494Thr)
c.1936T>A (p.Ser646Thr)
c.1843T>A (p.Ser615Thr)
c.1336T>A (p.Ser446Thr)
19g.4816401C>ACA403488437TICAM1c.1977G>T (p.Gln659His)
c.1480-1G>T (n.1480-1G>T)
c.1935G>T (p.Gln645His)
c.1842G>T (p.Gln614His)
c.1335G>T (p.Gln445His)
gnomAD v4
19g.4816401C=CA2319604854TICAM1c.1977G= (p.Gln659=)
c.1480-1G= (n.1480-1G=)
c.1935G= (p.Gln645=)
c.1842G= (p.Gln614=)
c.1335G= (p.Gln445=)
19g.4816401C>GCA403488439TICAM1c.1977G>C (p.Gln659His)
c.1480-1G>C (n.1480-1G>C)
c.1935G>C (p.Gln645His)
c.1842G>C (p.Gln614His)
c.1335G>C (p.Gln445His)
19g.4816401C>TCA403488438TICAM1c.1977G>A (p.Gln659=)
c.1480-1G>A (n.1480-1G>A)
c.1935G>A (p.Gln645=)
c.1842G>A (p.Gln614=)
c.1335G>A (p.Gln445=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.4816402T>ACA403488440TICAM1c.1976A>T (p.Gln659Leu)
c.1480-2A>T (n.1480-2A>T)
c.1934A>T (p.Gln645Leu)
c.1841A>T (p.Gln614Leu)
c.1334A>T (p.Gln445Leu)
19g.4816402T>CCA403488442TICAM1c.1976A>G (p.Gln659Arg)
c.1480-2A>G (n.1480-2A>G)
c.1934A>G (p.Gln645Arg)
c.1841A>G (p.Gln614Arg)
c.1334A>G (p.Gln445Arg)
19g.4816402T>GCA403488441TICAM1c.1976A>C (p.Gln659Pro)
c.1480-2A>C (n.1480-2A>C)
c.1934A>C (p.Gln645Pro)
c.1841A>C (p.Gln614Pro)
c.1334A>C (p.Gln445Pro)
19g.4816403G>ACA403488443TICAM1c.1975C>T (p.Gln659Ter)
c.1480-3C>T (n.1480-3C>T)
c.1933C>T (p.Gln645Ter)
c.1840C>T (p.Gln614Ter)
c.1333C>T (p.Gln445Ter)
gnomAD v4
19g.4816403G>CCA403488445TICAM1c.1975C>G (p.Gln659Glu)
c.1480-3C>G (n.1480-3C>G)
c.1933C>G (p.Gln645Glu)
c.1840C>G (p.Gln614Glu)
c.1333C>G (p.Gln445Glu)
19g.4816403G>TCA403488444TICAM1c.1975C>A (p.Gln659Lys)
c.1480-3C>A (n.1480-3C>A)
c.1933C>A (p.Gln645Lys)
c.1840C>A (p.Gln614Lys)
c.1333C>A (p.Gln445Lys)
gnomAD v4
19g.4816404C>ACA9105022TICAM1c.1974G>T (p.Pro658=)
c.1480-4G>T (n.1480-4G>T)
c.1932G>T (p.Pro644=)
c.1839G>T (p.Pro613=)
c.1332G>T (p.Pro444=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816404C=CA2319604855TICAM1c.1974G= (p.Pro658=)
c.1480-4G= (n.1480-4G=)
c.1932G= (p.Pro644=)
c.1839G= (p.Pro613=)
c.1332G= (p.Pro444=)
19g.4816404C>GCA505173866TICAM1c.1974G>C (p.Pro658=)
c.1480-4G>C (n.1480-4G>C)
c.1932G>C (p.Pro644=)
c.1839G>C (p.Pro613=)
c.1332G>C (p.Pro444=)
19g.4816404C>TCA9105021TICAM1c.1974G>A (p.Pro658=)
c.1480-4G>A (n.1480-4G>A)
c.1932G>A (p.Pro644=)
c.1839G>A (p.Pro613=)
c.1332G>A (p.Pro444=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816405G>ACA9105023TICAM1c.1973C>T (p.Pro658Leu)
c.1480-5C>T (n.1480-5C>T)
c.1931C>T (p.Pro644Leu)
c.1838C>T (p.Pro613Leu)
c.1331C>T (p.Pro444Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816405G>CCA9105024TICAM1c.1973C>G (p.Pro658Arg)
c.1480-5C>G (n.1480-5C>G)
c.1931C>G (p.Pro644Arg)
c.1838C>G (p.Pro613Arg)
c.1331C>G (p.Pro444Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816405G=CA2319604856TICAM1c.1973C= (p.Pro658=)
c.1480-5C= (n.1480-5C=)
c.1931C= (p.Pro644=)
c.1838C= (p.Pro613=)
c.1331C= (p.Pro444=)
19g.4816405G>TCA403488446TICAM1c.1973C>A (p.Pro658Gln)
c.1480-5C>A (n.1480-5C>A)
c.1931C>A (p.Pro644Gln)
c.1838C>A (p.Pro613Gln)
c.1331C>A (p.Pro444Gln)
gnomAD v4
19g.4816406G>ACA403488447TICAM1c.1972C>T (p.Pro658Ser)
c.1480-6C>T (n.1480-6C>T)
c.1930C>T (p.Pro644Ser)
c.1837C>T (p.Pro613Ser)
c.1330C>T (p.Pro444Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.4816406G>CCA403488448TICAM1c.1972C>G (p.Pro658Ala)
c.1480-6C>G (n.1480-6C>G)
c.1930C>G (p.Pro644Ala)
c.1837C>G (p.Pro613Ala)
c.1330C>G (p.Pro444Ala)
19g.4816406G=CA2319604857TICAM1c.1972C= (p.Pro658=)
c.1480-6C= (n.1480-6C=)
c.1930C= (p.Pro644=)
c.1837C= (p.Pro613=)
c.1330C= (p.Pro444=)
19g.4816406G>TCA403488449TICAM1c.1972C>A (p.Pro658Thr)
c.1480-6C>A (n.1480-6C>A)
c.1930C>A (p.Pro644Thr)
c.1837C>A (p.Pro613Thr)
c.1330C>A (p.Pro444Thr)
19g.4816407G>ACA505173873TICAM1c.1971C>T (p.Phe657=)
c.1480-7C>T (n.1480-7C>T)
c.1929C>T (p.Phe643=)
c.1836C>T (p.Phe612=)
c.1329C>T (p.Phe443=)
19g.4816407G>CCA403488450TICAM1c.1971C>G (p.Phe657Leu)
c.1480-7C>G (n.1480-7C>G)
c.1929C>G (p.Phe643Leu)
c.1836C>G (p.Phe612Leu)
c.1329C>G (p.Phe443Leu)
19g.4816407G>TCA403488451TICAM1c.1971C>A (p.Phe657Leu)
c.1480-7C>A (n.1480-7C>A)
c.1929C>A (p.Phe643Leu)
c.1836C>A (p.Phe612Leu)
c.1329C>A (p.Phe443Leu)
19g.4816408A>CCA403488452TICAM1c.1970T>G (p.Phe657Cys)
c.1480-8T>G (n.1480-8T>G)
c.1928T>G (p.Phe643Cys)
c.1835T>G (p.Phe612Cys)
c.1328T>G (p.Phe443Cys)
19g.4816408A>GCA403488453TICAM1c.1970T>C (p.Phe657Ser)
c.1480-8T>C (n.1480-8T>C)
c.1928T>C (p.Phe643Ser)
c.1835T>C (p.Phe612Ser)
c.1328T>C (p.Phe443Ser)
19g.4816408A>TCA403488454TICAM1c.1970T>A (p.Phe657Tyr)
c.1480-8T>A (n.1480-8T>A)
c.1928T>A (p.Phe643Tyr)
c.1835T>A (p.Phe612Tyr)
c.1328T>A (p.Phe443Tyr)
19g.4816409A>CCA403488455TICAM1c.1969T>G (p.Phe657Val)
c.1480-9T>G (n.1480-9T>G)
c.1927T>G (p.Phe643Val)
c.1834T>G (p.Phe612Val)
c.1327T>G (p.Phe443Val)
19g.4816409A>GCA403488456TICAM1c.1969T>C (p.Phe657Leu)
c.1480-9T>C (n.1480-9T>C)
c.1927T>C (p.Phe643Leu)
c.1834T>C (p.Phe612Leu)
c.1327T>C (p.Phe443Leu)
gnomAD v4
19g.4816409A>TCA403488457TICAM1c.1969T>A (p.Phe657Ile)
c.1480-9T>A (n.1480-9T>A)
c.1927T>A (p.Phe643Ile)
c.1834T>A (p.Phe612Ile)
c.1327T>A (p.Phe443Ile)
19g.4816410G>ACA505173879TICAM1c.1968C>T (p.Pro656=)
c.1480-10C>T (n.1480-10C>T)
c.1926C>T (p.Pro642=)
c.1833C>T (p.Pro611=)
c.1326C>T (p.Pro442=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.4816410G>CCA505173881TICAM1c.1968C>G (p.Pro656=)
c.1480-10C>G (n.1480-10C>G)
c.1926C>G (p.Pro642=)
c.1833C>G (p.Pro611=)
c.1326C>G (p.Pro442=)
19g.4816410G=CA2319604858TICAM1c.1968C= (p.Pro656=)
c.1480-10C= (n.1480-10C=)
c.1926C= (p.Pro642=)
c.1833C= (p.Pro611=)
c.1326C= (p.Pro442=)
19g.4816410G>TCA505173882TICAM1c.1968C>A (p.Pro656=)
c.1480-10C>A (n.1480-10C>A)
c.1926C>A (p.Pro642=)
c.1833C>A (p.Pro611=)
c.1326C>A (p.Pro442=)
gnomAD v4
19g.4816411G>ACA403488458TICAM1c.1967C>T (p.Pro656Leu)
c.1480-11C>T (n.1480-11C>T)
c.1925C>T (p.Pro642Leu)
c.1832C>T (p.Pro611Leu)
c.1325C>T (p.Pro442Leu)
19g.4816411G>CCA9105025TICAM1c.1967C>G (p.Pro656Arg)
c.1480-11C>G (n.1480-11C>G)
c.1925C>G (p.Pro642Arg)
c.1832C>G (p.Pro611Arg)
c.1325C>G (p.Pro442Arg)
ClinVar dbSNP ExAC gnomAD v2
19g.4816411G=CA2319604859TICAM1c.1967C= (p.Pro656=)
c.1480-11C= (n.1480-11C=)
c.1925C= (p.Pro642=)
c.1832C= (p.Pro611=)
c.1325C= (p.Pro442=)
19g.4816411G>TCA403488459TICAM1c.1967C>A (p.Pro656His)
c.1480-11C>A (n.1480-11C>A)
c.1925C>A (p.Pro642His)
c.1832C>A (p.Pro611His)
c.1325C>A (p.Pro442His)
19g.4816412G>ACA403488461TICAM1c.1966C>T (p.Pro656Ser)
c.1480-12C>T (n.1480-12C>T)
c.1924C>T (p.Pro642Ser)
c.1831C>T (p.Pro611Ser)
c.1324C>T (p.Pro442Ser)
gnomAD v4
19g.4816412G>CCA403488460TICAM1c.1966C>G (p.Pro656Ala)
c.1480-12C>G (n.1480-12C>G)
c.1924C>G (p.Pro642Ala)
c.1831C>G (p.Pro611Ala)
c.1324C>G (p.Pro442Ala)
19g.4816412G=CA2319604860TICAM1c.1966C= (p.Pro656=)
c.1480-12C= (n.1480-12C=)
c.1924C= (p.Pro642=)
c.1831C= (p.Pro611=)
c.1324C= (p.Pro442=)
19g.4816412G>TCA9105026TICAM1c.1966C>A (p.Pro656Thr)
c.1480-12C>A (n.1480-12C>A)
c.1924C>A (p.Pro642Thr)
c.1831C>A (p.Pro611Thr)
c.1324C>A (p.Pro442Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816413C>ACA505173886TICAM1c.1965G>T (p.Leu655=)
c.1480-13G>T (n.1480-13G>T)
c.1923G>T (p.Leu641=)
c.1830G>T (p.Leu610=)
c.1323G>T (p.Leu441=)
gnomAD v4
19g.4816413C>GCA505173887TICAM1c.1965G>C (p.Leu655=)
c.1480-13G>C (n.1480-13G>C)
c.1923G>C (p.Leu641=)
c.1830G>C (p.Leu610=)
c.1323G>C (p.Leu441=)
19g.4816413C>TCA505173888TICAM1c.1965G>A (p.Leu655=)
c.1480-13G>A (n.1480-13G>A)
c.1923G>A (p.Leu641=)
c.1830G>A (p.Leu610=)
c.1323G>A (p.Leu441=)
gnomAD v4
19g.4816414A>CCA403488462TICAM1c.1964T>G (p.Leu655Arg)
c.1480-14T>G (n.1480-14T>G)
c.1922T>G (p.Leu641Arg)
c.1829T>G (p.Leu610Arg)
c.1322T>G (p.Leu441Arg)
19g.4816414A>GCA403488463TICAM1c.1964T>C (p.Leu655Pro)
c.1480-14T>C (n.1480-14T>C)
c.1922T>C (p.Leu641Pro)
c.1829T>C (p.Leu610Pro)
c.1322T>C (p.Leu441Pro)
gnomAD v4
19g.4816414A>TCA403488464TICAM1c.1964T>A (p.Leu655Gln)
c.1480-14T>A (n.1480-14T>A)
c.1922T>A (p.Leu641Gln)
c.1829T>A (p.Leu610Gln)
c.1322T>A (p.Leu441Gln)
19g.4816415G>ACA505173890TICAM1c.1963C>T (p.Leu655=)
c.1480-15C>T (n.1480-15C>T)
c.1921C>T (p.Leu641=)
c.1828C>T (p.Leu610=)
c.1321C>T (p.Leu441=)
gnomAD v4
19g.4816415G>CCA403488465TICAM1c.1963C>G (p.Leu655Val)
c.1480-15C>G (n.1480-15C>G)
c.1921C>G (p.Leu641Val)
c.1828C>G (p.Leu610Val)
c.1321C>G (p.Leu441Val)
19g.4816415G>TCA403488466TICAM1c.1963C>A (p.Leu655Met)
c.1480-15C>A (n.1480-15C>A)
c.1921C>A (p.Leu641Met)
c.1828C>A (p.Leu610Met)
c.1321C>A (p.Leu441Met)
19g.4816416T>ACA505173891TICAM1c.1962A>T (p.Ser654=)
c.1480-16A>T (n.1480-16A>T)
c.1920A>T (p.Ser640=)
c.1827A>T (p.Ser609=)
c.1320A>T (p.Ser440=)
gnomAD v4
19g.4816416T>CCA505173892TICAM1c.1962A>G (p.Ser654=)
c.1480-16A>G (n.1480-16A>G)
c.1920A>G (p.Ser640=)
c.1827A>G (p.Ser609=)
c.1320A>G (p.Ser440=)
19g.4816416T>GCA505173893TICAM1c.1962A>C (p.Ser654=)
c.1480-16A>C (n.1480-16A>C)
c.1920A>C (p.Ser640=)
c.1827A>C (p.Ser609=)
c.1320A>C (p.Ser440=)
gnomAD v4
19g.4816417G>ACA403488467TICAM1c.1961C>T (p.Ser654Leu)
c.1480-17C>T (n.1480-17C>T)
c.1919C>T (p.Ser640Leu)
c.1826C>T (p.Ser609Leu)
c.1319C>T (p.Ser440Leu)
19g.4816417G>CCA403488468TICAM1c.1961C>G (p.Ser654Ter)
c.1480-17C>G (n.1480-17C>G)
c.1919C>G (p.Ser640Ter)
c.1826C>G (p.Ser609Ter)
c.1319C>G (p.Ser440Ter)
19g.4816417G>TCA403488469TICAM1c.1961C>A (p.Ser654Ter)
c.1480-17C>A (n.1480-17C>A)
c.1919C>A (p.Ser640Ter)
c.1826C>A (p.Ser609Ter)
c.1319C>A (p.Ser440Ter)
19g.4816418A=CA2319604861TICAM1c.1960T= (p.Ser654=)
c.1480-18T= (n.1480-18T=)
c.1918T= (p.Ser640=)
c.1825T= (p.Ser609=)
c.1318T= (p.Ser440=)
19g.4816418A>CCA403488470TICAM1c.1960T>G (p.Ser654Ala)
c.1480-18T>G (n.1480-18T>G)
c.1918T>G (p.Ser640Ala)
c.1825T>G (p.Ser609Ala)
c.1318T>G (p.Ser440Ala)
19g.4816418A>GCA9105027TICAM1c.1960T>C (p.Ser654Pro)
c.1480-18T>C (n.1480-18T>C)
c.1918T>C (p.Ser640Pro)
c.1825T>C (p.Ser609Pro)
c.1318T>C (p.Ser440Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.4816418A>TCA403488471TICAM1c.1960T>A (p.Ser654Thr)
c.1480-18T>A (n.1480-18T>A)
c.1918T>A (p.Ser640Thr)
c.1825T>A (p.Ser609Thr)
c.1318T>A (p.Ser440Thr)
19g.4816419C>ACA403488472TICAM1c.1959G>T (p.Gln653His)
c.1480-19G>T (n.1480-19G>T)
c.1917G>T (p.Gln639His)
c.1824G>T (p.Gln608His)
c.1317G>T (p.Gln439His)
gnomAD v4
19g.4816419C=CA2319604862TICAM1c.1959G= (p.Gln653=)
c.1480-19G= (n.1480-19G=)
c.1917G= (p.Gln639=)
c.1824G= (p.Gln608=)
c.1317G= (p.Gln439=)
19g.4816419C>GCA403488473TICAM1c.1959G>C (p.Gln653His)
c.1480-19G>C (n.1480-19G>C)
c.1917G>C (p.Gln639His)
c.1824G>C (p.Gln608His)
c.1317G>C (p.Gln439His)
19g.4816419C>TCA9105028TICAM1c.1959G>A (p.Gln653=)
c.1480-19G>A (n.1480-19G>A)
c.1917G>A (p.Gln639=)
c.1824G>A (p.Gln608=)
c.1317G>A (p.Gln439=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816420T>ACA403488476TICAM1c.1958A>T (p.Gln653Leu)
c.1480-20A>T (n.1480-20A>T)
c.1916A>T (p.Gln639Leu)
c.1823A>T (p.Gln608Leu)
c.1316A>T (p.Gln439Leu)
19g.4816420T>CCA403488475TICAM1c.1958A>G (p.Gln653Arg)
c.1480-20A>G (n.1480-20A>G)
c.1916A>G (p.Gln639Arg)
c.1823A>G (p.Gln608Arg)
c.1316A>G (p.Gln439Arg)
dbSNP gnomAD v2 gnomAD v4
19g.4816420T>GCA403488474TICAM1c.1958A>C (p.Gln653Pro)
c.1480-20A>C (n.1480-20A>C)
c.1916A>C (p.Gln639Pro)
c.1823A>C (p.Gln608Pro)
c.1316A>C (p.Gln439Pro)
19g.4816420T=CA2319604863TICAM1c.1958A= (p.Gln653=)
c.1480-20A= (n.1480-20A=)
c.1916A= (p.Gln639=)
c.1823A= (p.Gln608=)
c.1316A= (p.Gln439=)
19g.4816422_4816423delCA2586031827TICAM1c.1957_1958del (p.Gln653ValfsTer?)
c.1480-21_1480-20del (n.1480-21_1480-20del)
c.1915_1916del (p.Gln639ValfsTer?)
c.1822_1823del (p.Gln608ValfsTer?)
c.1315_1316del (p.Gln439ValfsTer?)
gnomAD v4
19g.4816421G>ACA403488477TICAM1c.1957C>T (p.Gln653Ter)
c.1480-21C>T (n.1480-21C>T)
c.1915C>T (p.Gln639Ter)
c.1822C>T (p.Gln608Ter)
c.1315C>T (p.Gln439Ter)
gnomAD v4
19g.4816421G>CCA403488478TICAM1c.1957C>G (p.Gln653Glu)
c.1480-21C>G (n.1480-21C>G)
c.1915C>G (p.Gln639Glu)
c.1822C>G (p.Gln608Glu)
c.1315C>G (p.Gln439Glu)
19g.4816421G>TCA403488479TICAM1c.1957C>A (p.Gln653Lys)
c.1480-21C>A (n.1480-21C>A)
c.1915C>A (p.Gln639Lys)
c.1822C>A (p.Gln608Lys)
c.1315C>A (p.Gln439Lys)
gnomAD v4
19g.4816422T>ACA505173899TICAM1c.1956A>T (p.Pro652=)
c.1480-22A>T (n.1480-22A>T)
c.1914A>T (p.Pro638=)
c.1821A>T (p.Pro607=)
c.1314A>T (p.Pro438=)
19g.4816422T>CCA505173900TICAM1c.1956A>G (p.Pro652=)
c.1480-22A>G (n.1480-22A>G)
c.1914A>G (p.Pro638=)
c.1821A>G (p.Pro607=)
c.1314A>G (p.Pro438=)
19g.4816422T>GCA505173901TICAM1c.1956A>C (p.Pro652=)
c.1480-22A>C (n.1480-22A>C)
c.1914A>C (p.Pro638=)
c.1821A>C (p.Pro607=)
c.1314A>C (p.Pro438=)
gnomAD v3 gnomAD v4
19g.4816423G>ACA403488480TICAM1c.1955C>T (p.Pro652Leu)
c.1480-23C>T (n.1480-23C>T)
c.1913C>T (p.Pro638Leu)
c.1820C>T (p.Pro607Leu)
c.1313C>T (p.Pro438Leu)
19g.4816423G>CCA403488481TICAM1c.1955C>G (p.Pro652Arg)
c.1480-23C>G (n.1480-23C>G)
c.1913C>G (p.Pro638Arg)
c.1820C>G (p.Pro607Arg)
c.1313C>G (p.Pro438Arg)
19g.4816423G=CA2319604864TICAM1c.1955C= (p.Pro652=)
c.1480-23C= (n.1480-23C=)
c.1913C= (p.Pro638=)
c.1820C= (p.Pro607=)
c.1313C= (p.Pro438=)
19g.4816423G>TCA9105029TICAM1c.1955C>A (p.Pro652Gln)
c.1480-23C>A (n.1480-23C>A)
c.1913C>A (p.Pro638Gln)
c.1820C>A (p.Pro607Gln)
c.1313C>A (p.Pro438Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816424delCA2586031828TICAM1c.1955del (p.Pro652HisfsTer?)
c.1480-23del (n.1480-23del)
c.1913del (p.Pro638HisfsTer?)
c.1820del (p.Pro607HisfsTer?)
c.1313del (p.Pro438HisfsTer?)
gnomAD v4
19g.4816424G>ACA403488484TICAM1c.1954C>T (p.Pro652Ser)
c.1480-24C>T (n.1480-24C>T)
c.1912C>T (p.Pro638Ser)
c.1819C>T (p.Pro607Ser)
c.1312C>T (p.Pro438Ser)
gnomAD v4
19g.4816424G>CCA403488482TICAM1c.1954C>G (p.Pro652Ala)
c.1480-24C>G (n.1480-24C>G)
c.1912C>G (p.Pro638Ala)
c.1819C>G (p.Pro607Ala)
c.1312C>G (p.Pro438Ala)
19g.4816424G>TCA403488483TICAM1c.1954C>A (p.Pro652Thr)
c.1480-24C>A (n.1480-24C>A)
c.1912C>A (p.Pro638Thr)
c.1819C>A (p.Pro607Thr)
c.1312C>A (p.Pro438Thr)
gnomAD v4
19g.4816425A>CCA403488485TICAM1c.1953T>G (p.Phe651Leu)
c.1480-25T>G (n.1480-25T>G)
c.1911T>G (p.Phe637Leu)
c.1818T>G (p.Phe606Leu)
c.1311T>G (p.Phe437Leu)
19g.4816425A>GCA505173909TICAM1c.1953T>C (p.Phe651=)
c.1480-25T>C (n.1480-25T>C)
c.1911T>C (p.Phe637=)
c.1818T>C (p.Phe606=)
c.1311T>C (p.Phe437=)
19g.4816425A>TCA403488486TICAM1c.1953T>A (p.Phe651Leu)
c.1480-25T>A (n.1480-25T>A)
c.1911T>A (p.Phe637Leu)
c.1818T>A (p.Phe606Leu)
c.1311T>A (p.Phe437Leu)
19g.4816427delCA2586031829TICAM1c.1953del (p.Pro652HisfsTer?)
c.1480-25del (n.1480-25del)
c.1911del (p.Pro638HisfsTer?)
c.1818del (p.Pro607HisfsTer?)
c.1311del (p.Pro438HisfsTer?)
gnomAD v4
19g.4816426A>CCA403488487TICAM1c.1952T>G (p.Phe651Cys)
c.1480-26T>G (n.1480-26T>G)
c.1910T>G (p.Phe637Cys)
c.1817T>G (p.Phe606Cys)
c.1310T>G (p.Phe437Cys)
19g.4816426A>GCA403488488TICAM1c.1952T>C (p.Phe651Ser)
c.1480-26T>C (n.1480-26T>C)
c.1910T>C (p.Phe637Ser)
c.1817T>C (p.Phe606Ser)
c.1310T>C (p.Phe437Ser)
19g.4816426A>TCA403488489TICAM1c.1952T>A (p.Phe651Tyr)
c.1480-26T>A (n.1480-26T>A)
c.1910T>A (p.Phe637Tyr)
c.1817T>A (p.Phe606Tyr)
c.1310T>A (p.Phe437Tyr)
19g.4816427A>CCA403488492TICAM1c.1951T>G (p.Phe651Val)
c.1480-27T>G (n.1480-27T>G)
c.1909T>G (p.Phe637Val)
c.1816T>G (p.Phe606Val)
c.1309T>G (p.Phe437Val)
19g.4816427A>GCA403488490TICAM1c.1951T>C (p.Phe651Leu)
c.1480-27T>C (n.1480-27T>C)
c.1909T>C (p.Phe637Leu)
c.1816T>C (p.Phe606Leu)
c.1309T>C (p.Phe437Leu)
gnomAD v3 gnomAD v4
19g.4816427A>TCA403488491TICAM1c.1951T>A (p.Phe651Ile)
c.1480-27T>A (n.1480-27T>A)
c.1909T>A (p.Phe637Ile)
c.1816T>A (p.Phe606Ile)
c.1309T>A (p.Phe437Ile)
19g.4816428G>ACA505173913TICAM1c.1950C>T (p.Ala650=)
c.1480-28C>T (n.1480-28C>T)
c.1908C>T (p.Ala636=)
c.1815C>T (p.Ala605=)
c.1308C>T (p.Ala436=)
19g.4816428G>CCA505173914TICAM1c.1950C>G (p.Ala650=)
c.1480-28C>G (n.1480-28C>G)
c.1908C>G (p.Ala636=)
c.1815C>G (p.Ala605=)
c.1308C>G (p.Ala436=)
19g.4816428G>TCA505173915TICAM1c.1950C>A (p.Ala650=)
c.1480-28C>A (n.1480-28C>A)
c.1908C>A (p.Ala636=)
c.1815C>A (p.Ala605=)
c.1308C>A (p.Ala436=)
19g.4816429G>ACA403488493TICAM1c.1949C>T (p.Ala650Val)
c.1480-29C>T (n.1480-29C>T)
c.1907C>T (p.Ala636Val)
c.1814C>T (p.Ala605Val)
c.1307C>T (p.Ala436Val)
gnomAD v4
19g.4816429G>CCA403488494TICAM1c.1949C>G (p.Ala650Gly)
c.1480-29C>G (n.1480-29C>G)
c.1907C>G (p.Ala636Gly)
c.1814C>G (p.Ala605Gly)
c.1307C>G (p.Ala436Gly)
gnomAD v4
19g.4816429G>TCA403488495TICAM1c.1949C>A (p.Ala650Asp)
c.1480-29C>A (n.1480-29C>A)
c.1907C>A (p.Ala636Asp)
c.1814C>A (p.Ala605Asp)
c.1307C>A (p.Ala436Asp)
gnomAD v4
19g.4816430C>ACA403488496TICAM1c.1948G>T (p.Ala650Ser)
c.1480-30G>T (n.1480-30G>T)
c.1906G>T (p.Ala636Ser)
c.1813G>T (p.Ala605Ser)
c.1306G>T (p.Ala436Ser)
19g.4816430C>GCA403488497TICAM1c.1948G>C (p.Ala650Pro)
c.1480-30G>C (n.1480-30G>C)
c.1906G>C (p.Ala636Pro)
c.1813G>C (p.Ala605Pro)
c.1306G>C (p.Ala436Pro)
19g.4816430C>TCA403488498TICAM1c.1948G>A (p.Ala650Thr)
c.1480-30G>A (n.1480-30G>A)
c.1906G>A (p.Ala636Thr)
c.1813G>A (p.Ala605Thr)
c.1306G>A (p.Ala436Thr)
19g.4816431T>ACA505173920TICAM1c.1947A>T (p.Ala649=)
c.1480-31A>T (n.1480-31A>T)
c.1905A>T (p.Ala635=)
c.1812A>T (p.Ala604=)
c.1305A>T (p.Ala435=)
19g.4816431T>CCA505173924TICAM1c.1947A>G (p.Ala649=)
c.1480-31A>G (n.1480-31A>G)
c.1905A>G (p.Ala635=)
c.1812A>G (p.Ala604=)
c.1305A>G (p.Ala435=)
19g.4816431T>GCA505173922TICAM1c.1947A>C (p.Ala649=)
c.1480-31A>C (n.1480-31A>C)
c.1905A>C (p.Ala635=)
c.1812A>C (p.Ala604=)
c.1305A>C (p.Ala435=)
19g.4816432G>ACA403488499TICAM1c.1946C>T (p.Ala649Val)
c.1480-32C>T (n.1480-32C>T)
c.1904C>T (p.Ala635Val)
c.1811C>T (p.Ala604Val)
c.1304C>T (p.Ala435Val)
gnomAD v4
19g.4816432G>CCA403488500TICAM1c.1946C>G (p.Ala649Gly)
c.1480-32C>G (n.1480-32C>G)
c.1904C>G (p.Ala635Gly)
c.1811C>G (p.Ala604Gly)
c.1304C>G (p.Ala435Gly)
19g.4816432G>TCA403488501TICAM1c.1946C>A (p.Ala649Glu)
c.1480-32C>A (n.1480-32C>A)
c.1904C>A (p.Ala635Glu)
c.1811C>A (p.Ala604Glu)
c.1304C>A (p.Ala435Glu)
gnomAD v4
19g.4816433C>ACA403488502TICAM1c.1945G>T (p.Ala649Ser)
c.1480-33G>T (n.1480-33G>T)
c.1903G>T (p.Ala635Ser)
c.1810G>T (p.Ala604Ser)
c.1303G>T (p.Ala435Ser)
gnomAD v4
19g.4816433C>GCA403488503TICAM1c.1945G>C (p.Ala649Pro)
c.1480-33G>C (n.1480-33G>C)
c.1903G>C (p.Ala635Pro)
c.1810G>C (p.Ala604Pro)
c.1303G>C (p.Ala435Pro)
19g.4816433C>TCA403488504TICAM1c.1945G>A (p.Ala649Thr)
c.1480-33G>A (n.1480-33G>A)
c.1903G>A (p.Ala635Thr)
c.1810G>A (p.Ala604Thr)
c.1303G>A (p.Ala435Thr)
gnomAD v4
19g.4816434T>ACA505173975TICAM1c.1944A>T (p.Pro648=)
c.1480-34A>T (n.1480-34A>T)
c.1902A>T (p.Pro634=)
c.1809A>T (p.Pro603=)
c.1302A>T (p.Pro434=)
19g.4816434T>CCA505173976TICAM1c.1944A>G (p.Pro648=)
c.1480-34A>G (n.1480-34A>G)
c.1902A>G (p.Pro634=)
c.1809A>G (p.Pro603=)
c.1302A>G (p.Pro434=)
19g.4816434T>GCA505173977TICAM1c.1944A>C (p.Pro648=)
c.1480-34A>C (n.1480-34A>C)
c.1902A>C (p.Pro634=)
c.1809A>C (p.Pro603=)
c.1302A>C (p.Pro434=)
dbSNP
19g.4816435G>ACA403488505TICAM1c.1943C>T (p.Pro648Leu)
c.1480-35C>T (n.1480-35C>T)
c.1901C>T (p.Pro634Leu)
c.1808C>T (p.Pro603Leu)
c.1301C>T (p.Pro434Leu)
gnomAD v4
19g.4816435G>CCA403488507TICAM1c.1943C>G (p.Pro648Arg)
c.1480-35C>G (n.1480-35C>G)
c.1901C>G (p.Pro634Arg)
c.1808C>G (p.Pro603Arg)
c.1301C>G (p.Pro434Arg)
19g.4816435G>TCA403488506TICAM1c.1943C>A (p.Pro648Gln)
c.1480-35C>A (n.1480-35C>A)
c.1901C>A (p.Pro634Gln)
c.1808C>A (p.Pro603Gln)
c.1301C>A (p.Pro434Gln)
19g.4816436G>ACA403488508TICAM1c.1942C>T (p.Pro648Ser)
c.1480-36C>T (n.1480-36C>T)
c.1900C>T (p.Pro634Ser)
c.1807C>T (p.Pro603Ser)
c.1300C>T (p.Pro434Ser)
19g.4816436G>CCA403488510TICAM1c.1942C>G (p.Pro648Ala)
c.1480-36C>G (n.1480-36C>G)
c.1900C>G (p.Pro634Ala)
c.1807C>G (p.Pro603Ala)
c.1300C>G (p.Pro434Ala)
19g.4816436G>TCA403488509TICAM1c.1942C>A (p.Pro648Thr)
c.1480-36C>A (n.1480-36C>A)
c.1900C>A (p.Pro634Thr)
c.1807C>A (p.Pro603Thr)
c.1300C>A (p.Pro434Thr)
gnomAD v4
19g.4816437C>ACA403488511TICAM1c.1941G>T (p.Gln647His)
c.1480-37G>T (n.1480-37G>T)
c.1899G>T (p.Gln633His)
c.1806G>T (p.Gln602His)
c.1299G>T (p.Gln433His)
gnomAD v4 COSMIC
19g.4816437C=CA2319604865TICAM1c.1941G= (p.Gln647=)
c.1480-37G= (n.1480-37G=)
c.1899G= (p.Gln633=)
c.1806G= (p.Gln602=)
c.1299G= (p.Gln433=)
19g.4816437C>GCA403488512TICAM1c.1941G>C (p.Gln647His)
c.1480-37G>C (n.1480-37G>C)
c.1899G>C (p.Gln633His)
c.1806G>C (p.Gln602His)
c.1299G>C (p.Gln433His)
19g.4816437C>TCA9105030TICAM1c.1941G>A (p.Gln647=)
c.1480-37G>A (n.1480-37G>A)
c.1899G>A (p.Gln633=)
c.1806G>A (p.Gln602=)
c.1299G>A (p.Gln433=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816438T>ACA403488513TICAM1c.1940A>T (p.Gln647Leu)
c.1480-38A>T (n.1480-38A>T)
c.1898A>T (p.Gln633Leu)
c.1805A>T (p.Gln602Leu)
c.1298A>T (p.Gln433Leu)
19g.4816438T>CCA403488514TICAM1c.1940A>G (p.Gln647Arg)
c.1480-38A>G (n.1480-38A>G)
c.1898A>G (p.Gln633Arg)
c.1805A>G (p.Gln602Arg)
c.1298A>G (p.Gln433Arg)
ClinVar
19g.4816438T>GCA403488515TICAM1c.1940A>C (p.Gln647Pro)
c.1480-38A>C (n.1480-38A>C)
c.1898A>C (p.Gln633Pro)
c.1805A>C (p.Gln602Pro)
c.1298A>C (p.Gln433Pro)
19g.4816438_4816450delinsTGTGGGGAGGGCGCA2319604866TICAM1c.1928_1940delinsCGCCCTCCCCACA (p.Pro643=)
c.1479+32_1480-38delinsCGCCCTCCCCACA (n.1479+32_1480-38delinsCGCCCTCCCCACA)
c.1886_1898delinsCGCCCTCCCCACA (p.Pro629=)
c.1793_1805delinsCGCCCTCCCCACA (p.Pro598=)
c.1286_1298delinsCGCCCTCCCCACA (p.Pro429=)
19g.4816439G>ACA403488516TICAM1c.1939C>T (p.Gln647Ter)
c.1480-39C>T (n.1480-39C>T)
c.1897C>T (p.Gln633Ter)
c.1804C>T (p.Gln602Ter)
c.1297C>T (p.Gln433Ter)
gnomAD v4 COSMIC
19g.4816439G>CCA403488517TICAM1c.1939C>G (p.Gln647Glu)
c.1480-39C>G (n.1480-39C>G)
c.1897C>G (p.Gln633Glu)
c.1804C>G (p.Gln602Glu)
c.1297C>G (p.Gln433Glu)
19g.4816439G=CA2319604867TICAM1c.1939C= (p.Gln647=)
c.1480-39C= (n.1480-39C=)
c.1897C= (p.Gln633=)
c.1804C= (p.Gln602=)
c.1297C= (p.Gln433=)
19g.4816439G>TCA403488518TICAM1c.1939C>A (p.Gln647Lys)
c.1480-39C>A (n.1480-39C>A)
c.1897C>A (p.Gln633Lys)
c.1804C>A (p.Gln602Lys)
c.1297C>A (p.Gln433Lys)
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.4816440T>ACA505173988TICAM1c.1938A>T (p.Pro646=)
c.1480-40A>T (n.1480-40A>T)
c.1896A>T (p.Pro632=)
c.1803A>T (p.Pro601=)
c.1296A>T (p.Pro432=)
19g.4816440T>CCA505173989TICAM1c.1938A>G (p.Pro646=)
c.1480-40A>G (n.1480-40A>G)
c.1896A>G (p.Pro632=)
c.1803A>G (p.Pro601=)
c.1296A>G (p.Pro432=)
dbSNP
19g.4816440T>GCA505173991TICAM1c.1938A>C (p.Pro646=)
c.1480-40A>C (n.1480-40A>C)
c.1896A>C (p.Pro632=)
c.1803A>C (p.Pro601=)
c.1296A>C (p.Pro432=)
dbSNP gnomAD v3 gnomAD v4
19g.4816440T=CA2319604868TICAM1c.1938A= (p.Pro646=)
c.1480-40A= (n.1480-40A=)
c.1896A= (p.Pro632=)
c.1803A= (p.Pro601=)
c.1296A= (p.Pro432=)
19g.4816440dupCA882980639TICAM1c.1938dup (p.Gln647ThrfsTer?)
c.1480-40dup (n.1480-40dup)
c.1896dup (p.Gln633ThrfsTer?)
c.1803dup (p.Gln602ThrfsTer?)
c.1296dup (p.Gln433ThrfsTer?)
dbSNP
19g.4816441G>ACA403488519TICAM1c.1937C>T (p.Pro646Leu)
c.1480-41C>T (n.1480-41C>T)
c.1895C>T (p.Pro632Leu)
c.1802C>T (p.Pro601Leu)
c.1295C>T (p.Pro432Leu)
dbSNP
19g.4816441G>CCA403488520TICAM1c.1937C>G (p.Pro646Arg)
c.1480-41C>G (n.1480-41C>G)
c.1895C>G (p.Pro632Arg)
c.1802C>G (p.Pro601Arg)
c.1295C>G (p.Pro432Arg)
gnomAD v4
19g.4816441G=CA2319604869TICAM1c.1937C= (p.Pro646=)
c.1480-41C= (n.1480-41C=)
c.1895C= (p.Pro632=)
c.1802C= (p.Pro601=)
c.1295C= (p.Pro432=)
19g.4816441G>TCA403488521TICAM1c.1937C>A (p.Pro646Gln)
c.1480-41C>A (n.1480-41C>A)
c.1895C>A (p.Pro632Gln)
c.1802C>A (p.Pro601Gln)
c.1295C>A (p.Pro432Gln)
gnomAD v4
19g.4816442G>ACA403488524TICAM1c.1936C>T (p.Pro646Ser)
c.1479+40C>T (n.1479+40C>T)
c.1894C>T (p.Pro632Ser)
c.1801C>T (p.Pro601Ser)
c.1294C>T (p.Pro432Ser)
19g.4816442G>CCA403488522TICAM1c.1936C>G (p.Pro646Ala)
c.1479+40C>G (n.1479+40C>G)
c.1894C>G (p.Pro632Ala)
c.1801C>G (p.Pro601Ala)
c.1294C>G (p.Pro432Ala)
dbSNP gnomAD v2 gnomAD v4
19g.4816442G=CA2319604870TICAM1c.1936C= (p.Pro646=)
c.1479+40C= (n.1479+40C=)
c.1894C= (p.Pro632=)
c.1801C= (p.Pro601=)
c.1294C= (p.Pro432=)
19g.4816442G>TCA403488523TICAM1c.1936C>A (p.Pro646Thr)
c.1479+40C>A (n.1479+40C>A)
c.1894C>A (p.Pro632Thr)
c.1801C>A (p.Pro601Thr)
c.1294C>A (p.Pro432Thr)
gnomAD v4
19g.4816443G>ACA505173994TICAM1c.1935C>T (p.Ser645=)
c.1479+39C>T (n.1479+39C>T)
c.1893C>T (p.Ser631=)
c.1800C>T (p.Ser600=)
c.1293C>T (p.Ser431=)
19g.4816443G>CCA505173996TICAM1c.1935C>G (p.Ser645=)
c.1479+39C>G (n.1479+39C>G)
c.1893C>G (p.Ser631=)
c.1800C>G (p.Ser600=)
c.1293C>G (p.Ser431=)
dbSNP
19g.4816443G=CA2319604871TICAM1c.1935C= (p.Ser645=)
c.1479+39C= (n.1479+39C=)
c.1893C= (p.Ser631=)
c.1800C= (p.Ser600=)
c.1293C= (p.Ser431=)
19g.4816443G>TCA505174000TICAM1c.1935C>A (p.Ser645=)
c.1479+39C>A (n.1479+39C>A)
c.1893C>A (p.Ser631=)
c.1800C>A (p.Ser600=)
c.1293C>A (p.Ser431=)
19g.4816444G>ACA403488525TICAM1c.1934C>T (p.Ser645Phe)
c.1479+38C>T (n.1479+38C>T)
c.1892C>T (p.Ser631Phe)
c.1799C>T (p.Ser600Phe)
c.1292C>T (p.Ser431Phe)
19g.4816444G>CCA403488526TICAM1c.1934C>G (p.Ser645Cys)
c.1479+38C>G (n.1479+38C>G)
c.1892C>G (p.Ser631Cys)
c.1799C>G (p.Ser600Cys)
c.1292C>G (p.Ser431Cys)
19g.4816444G=CA2319604872TICAM1c.1934C= (p.Ser645=)
c.1479+38C= (n.1479+38C=)
c.1892C= (p.Ser631=)
c.1799C= (p.Ser600=)
c.1292C= (p.Ser431=)
19g.4816444G>TCA403488527TICAM1c.1934C>A (p.Ser645Tyr)
c.1479+38C>A (n.1479+38C>A)
c.1892C>A (p.Ser631Tyr)
c.1799C>A (p.Ser600Tyr)
c.1292C>A (p.Ser431Tyr)
dbSNP gnomAD v2 gnomAD v4
19g.4816445A=CA2319604873TICAM1c.1933T= (p.Ser645=)
c.1479+37T= (n.1479+37T=)
c.1891T= (p.Ser631=)
c.1798T= (p.Ser600=)
c.1291T= (p.Ser431=)
19g.4816445A>CCA403488528TICAM1c.1933T>G (p.Ser645Ala)
c.1479+37T>G (n.1479+37T>G)
c.1891T>G (p.Ser631Ala)
c.1798T>G (p.Ser600Ala)
c.1291T>G (p.Ser431Ala)
gnomAD v4
19g.4816445A>GCA304546989TICAM1c.1933T>C (p.Ser645Pro)
c.1479+37T>C (n.1479+37T>C)
c.1891T>C (p.Ser631Pro)
c.1798T>C (p.Ser600Pro)
c.1291T>C (p.Ser431Pro)
dbSNP gnomAD v3 gnomAD v4
19g.4816445A>TCA403488529TICAM1c.1933T>A (p.Ser645Thr)
c.1479+37T>A (n.1479+37T>A)
c.1891T>A (p.Ser631Thr)
c.1798T>A (p.Ser600Thr)
c.1291T>A (p.Ser431Thr)
gnomAD v4
19g.4816446G>ACA505174006TICAM1c.1932C>T (p.Pro644=)
c.1479+36C>T (n.1479+36C>T)
c.1890C>T (p.Pro630=)
c.1797C>T (p.Pro599=)
c.1290C>T (p.Pro430=)
gnomAD v4
19g.4816446G>CCA505174003TICAM1c.1932C>G (p.Pro644=)
c.1479+36C>G (n.1479+36C>G)
c.1890C>G (p.Pro630=)
c.1797C>G (p.Pro599=)
c.1290C>G (p.Pro430=)
19g.4816446G>TCA505174005TICAM1c.1932C>A (p.Pro644=)
c.1479+36C>A (n.1479+36C>A)
c.1890C>A (p.Pro630=)
c.1797C>A (p.Pro599=)
c.1290C>A (p.Pro430=)
gnomAD v4
19g.4816447G>ACA403488530TICAM1c.1931C>T (p.Pro644Leu)
c.1479+35C>T (n.1479+35C>T)
c.1889C>T (p.Pro630Leu)
c.1796C>T (p.Pro599Leu)
c.1289C>T (p.Pro430Leu)
dbSNP gnomAD v2 gnomAD v4
19g.4816447G>CCA403488531TICAM1c.1931C>G (p.Pro644Arg)
c.1479+35C>G (n.1479+35C>G)
c.1889C>G (p.Pro630Arg)
c.1796C>G (p.Pro599Arg)
c.1289C>G (p.Pro430Arg)
19g.4816447G=CA2319604874TICAM1c.1931C= (p.Pro644=)
c.1479+35C= (n.1479+35C=)
c.1889C= (p.Pro630=)
c.1796C= (p.Pro599=)
c.1289C= (p.Pro430=)
19g.4816447G>TCA403488532TICAM1c.1931C>A (p.Pro644His)
c.1479+35C>A (n.1479+35C>A)
c.1889C>A (p.Pro630His)
c.1796C>A (p.Pro599His)
c.1289C>A (p.Pro430His)
dbSNP gnomAD v3 gnomAD v4
19g.4816448G>ACA403488533TICAM1c.1930C>T (p.Pro644Ser)
c.1479+34C>T (n.1479+34C>T)
c.1888C>T (p.Pro630Ser)
c.1795C>T (p.Pro599Ser)
c.1288C>T (p.Pro430Ser)
19g.4816448G>CCA403488534TICAM1c.1930C>G (p.Pro644Ala)
c.1479+34C>G (n.1479+34C>G)
c.1888C>G (p.Pro630Ala)
c.1795C>G (p.Pro599Ala)
c.1288C>G (p.Pro430Ala)
19g.4816448G>TCA403488535TICAM1c.1930C>A (p.Pro644Thr)
c.1479+34C>A (n.1479+34C>A)
c.1888C>A (p.Pro630Thr)
c.1795C>A (p.Pro599Thr)
c.1288C>A (p.Pro430Thr)
19g.4816449C>ACA505174008TICAM1c.1929G>T (p.Pro643=)
c.1479+33G>T (n.1479+33G>T)
c.1887G>T (p.Pro629=)
c.1794G>T (p.Pro598=)
c.1287G>T (p.Pro429=)
dbSNP gnomAD v3 gnomAD v4
19g.4816449C=CA2319604875TICAM1c.1929G= (p.Pro643=)
c.1479+33G= (n.1479+33G=)
c.1887G= (p.Pro629=)
c.1794G= (p.Pro598=)
c.1287G= (p.Pro429=)
19g.4816449C>GCA505174009TICAM1c.1929G>C (p.Pro643=)
c.1479+33G>C (n.1479+33G>C)
c.1887G>C (p.Pro629=)
c.1794G>C (p.Pro598=)
c.1287G>C (p.Pro429=)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.4816449C>TCA9105031TICAM1c.1929G>A (p.Pro643=)
c.1479+33G>A (n.1479+33G>A)
c.1887G>A (p.Pro629=)
c.1794G>A (p.Pro598=)
c.1287G>A (p.Pro429=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816450G>ACA403488537TICAM1c.1928C>T (p.Pro643Leu)
c.1479+32C>T (n.1479+32C>T)
c.1886C>T (p.Pro629Leu)
c.1793C>T (p.Pro598Leu)
c.1286C>T (p.Pro429Leu)
dbSNP gnomAD v3 gnomAD v4
19g.4816450G>CCA9105032TICAM1c.1928C>G (p.Pro643Arg)
c.1479+32C>G (n.1479+32C>G)
c.1886C>G (p.Pro629Arg)
c.1793C>G (p.Pro598Arg)
c.1286C>G (p.Pro429Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816450G=CA2319604876TICAM1c.1928C= (p.Pro643=)
c.1479+32C= (n.1479+32C=)
c.1886C= (p.Pro629=)
c.1793C= (p.Pro598=)
c.1286C= (p.Pro429=)
19g.4816450G>TCA403488536TICAM1c.1928C>A (p.Pro643Gln)
c.1479+32C>A (n.1479+32C>A)
c.1886C>A (p.Pro629Gln)
c.1793C>A (p.Pro598Gln)
c.1286C>A (p.Pro429Gln)
gnomAD v4
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

Number of alleles fetched