Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.4816713G>ACA505174095TICAM1c.1665C>T (p.His555=)
c.1248C>T (p.His416=)
c.1623C>T (p.His541=)
c.1530C>T (p.His510=)
c.1023C>T (p.His341=)
19g.4816713G>CCA9105088TICAM1c.1665C>G (p.His555Gln)
c.1248C>G (p.His416Gln)
c.1623C>G (p.His541Gln)
c.1530C>G (p.His510Gln)
c.1023C>G (p.His341Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816713G=CA2319604991TICAM1c.1665C= (p.His555=)
c.1248C= (p.His416=)
c.1623C= (p.His541=)
c.1530C= (p.His510=)
c.1023C= (p.His341=)
19g.4816713G>TCA403489093TICAM1c.1665C>A (p.His555Gln)
c.1248C>A (p.His416Gln)
c.1623C>A (p.His541Gln)
c.1530C>A (p.His510Gln)
c.1023C>A (p.His341Gln)
19g.4816714T>ACA403489096TICAM1c.1664A>T (p.His555Leu)
c.1247A>T (p.His416Leu)
c.1622A>T (p.His541Leu)
c.1529A>T (p.His510Leu)
c.1022A>T (p.His341Leu)
19g.4816714T>CCA403489095TICAM1c.1664A>G (p.His555Arg)
c.1247A>G (p.His416Arg)
c.1622A>G (p.His541Arg)
c.1529A>G (p.His510Arg)
c.1022A>G (p.His341Arg)
19g.4816714T>GCA403489094TICAM1c.1664A>C (p.His555Pro)
c.1247A>C (p.His416Pro)
c.1622A>C (p.His541Pro)
c.1529A>C (p.His510Pro)
c.1022A>C (p.His341Pro)
19g.4816715G>ACA403489097TICAM1c.1663C>T (p.His555Tyr)
c.1246C>T (p.His416Tyr)
c.1621C>T (p.His541Tyr)
c.1528C>T (p.His510Tyr)
c.1021C>T (p.His341Tyr)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.4816715G>CCA403489098TICAM1c.1663C>G (p.His555Asp)
c.1246C>G (p.His416Asp)
c.1621C>G (p.His541Asp)
c.1528C>G (p.His510Asp)
c.1021C>G (p.His341Asp)
19g.4816715G=CA2319604992TICAM1c.1663C= (p.His555=)
c.1246C= (p.His416=)
c.1621C= (p.His541=)
c.1528C= (p.His510=)
c.1021C= (p.His341=)
19g.4816715G>TCA403489099TICAM1c.1663C>A (p.His555Asn)
c.1246C>A (p.His416Asn)
c.1621C>A (p.His541Asn)
c.1528C>A (p.His510Asn)
c.1021C>A (p.His341Asn)
19g.4816716T>ACA403489100TICAM1c.1662A>T (p.Gln554His)
c.1245A>T (p.Gln415His)
c.1620A>T (p.Gln540His)
c.1527A>T (p.Gln509His)
c.1020A>T (p.Gln340His)
19g.4816716T>CCA9105089TICAM1c.1662A>G (p.Gln554=)
c.1245A>G (p.Gln415=)
c.1620A>G (p.Gln540=)
c.1527A>G (p.Gln509=)
c.1020A>G (p.Gln340=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816716T>GCA403489101TICAM1c.1662A>C (p.Gln554His)
c.1245A>C (p.Gln415His)
c.1620A>C (p.Gln540His)
c.1527A>C (p.Gln509His)
c.1020A>C (p.Gln340His)
19g.4816716T=CA2319604993TICAM1c.1662A= (p.Gln554=)
c.1245A= (p.Gln415=)
c.1620A= (p.Gln540=)
c.1527A= (p.Gln509=)
c.1020A= (p.Gln340=)
19g.4816717T>ACA403489102TICAM1c.1661A>T (p.Gln554Leu)
c.1244A>T (p.Gln415Leu)
c.1619A>T (p.Gln540Leu)
c.1526A>T (p.Gln509Leu)
c.1019A>T (p.Gln340Leu)
19g.4816717T>CCA403489103TICAM1c.1661A>G (p.Gln554Arg)
c.1244A>G (p.Gln415Arg)
c.1619A>G (p.Gln540Arg)
c.1526A>G (p.Gln509Arg)
c.1019A>G (p.Gln340Arg)
19g.4816717T>GCA403489104TICAM1c.1661A>C (p.Gln554Pro)
c.1244A>C (p.Gln415Pro)
c.1619A>C (p.Gln540Pro)
c.1526A>C (p.Gln509Pro)
c.1019A>C (p.Gln340Pro)
19g.4816718G>ACA403489105TICAM1c.1660C>T (p.Gln554Ter)
c.1243C>T (p.Gln415Ter)
c.1618C>T (p.Gln540Ter)
c.1525C>T (p.Gln509Ter)
c.1018C>T (p.Gln340Ter)
dbSNP
19g.4816718G>CCA403489106TICAM1c.1660C>G (p.Gln554Glu)
c.1243C>G (p.Gln415Glu)
c.1618C>G (p.Gln540Glu)
c.1525C>G (p.Gln509Glu)
c.1018C>G (p.Gln340Glu)
19g.4816718G=CA2319604994TICAM1c.1660C= (p.Gln554=)
c.1243C= (p.Gln415=)
c.1618C= (p.Gln540=)
c.1525C= (p.Gln509=)
c.1018C= (p.Gln340=)
19g.4816718G>TCA403489107TICAM1c.1660C>A (p.Gln554Lys)
c.1243C>A (p.Gln415Lys)
c.1618C>A (p.Gln540Lys)
c.1525C>A (p.Gln509Lys)
c.1018C>A (p.Gln340Lys)
19g.4816719G>ACA505174099TICAM1c.1659C>T (p.Ser553=)
c.1242C>T (p.Ser414=)
c.1617C>T (p.Ser539=)
c.1524C>T (p.Ser508=)
c.1017C>T (p.Ser339=)
19g.4816719G>CCA403489109TICAM1c.1659C>G (p.Ser553Arg)
c.1242C>G (p.Ser414Arg)
c.1617C>G (p.Ser539Arg)
c.1524C>G (p.Ser508Arg)
c.1017C>G (p.Ser339Arg)
19g.4816719G>TCA403489108TICAM1c.1659C>A (p.Ser553Arg)
c.1242C>A (p.Ser414Arg)
c.1617C>A (p.Ser539Arg)
c.1524C>A (p.Ser508Arg)
c.1017C>A (p.Ser339Arg)
19g.4816720C>ACA403489110TICAM1c.1658G>T (p.Ser553Ile)
c.1241G>T (p.Ser414Ile)
c.1616G>T (p.Ser539Ile)
c.1523G>T (p.Ser508Ile)
c.1016G>T (p.Ser339Ile)
19g.4816720C>GCA403489111TICAM1c.1658G>C (p.Ser553Thr)
c.1241G>C (p.Ser414Thr)
c.1616G>C (p.Ser539Thr)
c.1523G>C (p.Ser508Thr)
c.1016G>C (p.Ser339Thr)
gnomAD v4
19g.4816720C>TCA403489112TICAM1c.1658G>A (p.Ser553Asn)
c.1241G>A (p.Ser414Asn)
c.1616G>A (p.Ser539Asn)
c.1523G>A (p.Ser508Asn)
c.1016G>A (p.Ser339Asn)
gnomAD v4
19g.4816721T>ACA403489113TICAM1c.1657A>T (p.Ser553Cys)
c.1240A>T (p.Ser414Cys)
c.1615A>T (p.Ser539Cys)
c.1522A>T (p.Ser508Cys)
c.1015A>T (p.Ser339Cys)
19g.4816721T>CCA403489114TICAM1c.1657A>G (p.Ser553Gly)
c.1240A>G (p.Ser414Gly)
c.1615A>G (p.Ser539Gly)
c.1522A>G (p.Ser508Gly)
c.1015A>G (p.Ser339Gly)
19g.4816721T>GCA403489115TICAM1c.1657A>C (p.Ser553Arg)
c.1240A>C (p.Ser414Arg)
c.1615A>C (p.Ser539Arg)
c.1522A>C (p.Ser508Arg)
c.1015A>C (p.Ser339Arg)
19g.4816722C>ACA403489116TICAM1c.1656G>T (p.Gln552His)
c.1239G>T (p.Gln413His)
c.1614G>T (p.Gln538His)
c.1521G>T (p.Gln507His)
c.1014G>T (p.Gln338His)
19g.4816722C=CA2319604995TICAM1c.1656G= (p.Gln552=)
c.1239G= (p.Gln413=)
c.1614G= (p.Gln538=)
c.1521G= (p.Gln507=)
c.1014G= (p.Gln338=)
19g.4816722C>GCA403489117TICAM1c.1656G>C (p.Gln552His)
c.1239G>C (p.Gln413His)
c.1614G>C (p.Gln538His)
c.1521G>C (p.Gln507His)
c.1014G>C (p.Gln338His)
19g.4816722C>TCA505174102TICAM1c.1656G>A (p.Gln552=)
c.1239G>A (p.Gln413=)
c.1614G>A (p.Gln538=)
c.1521G>A (p.Gln507=)
c.1014G>A (p.Gln338=)
dbSNP gnomAD v3 gnomAD v4
19g.4816723T>ACA403489118TICAM1c.1655A>T (p.Gln552Leu)
c.1238A>T (p.Gln413Leu)
c.1613A>T (p.Gln538Leu)
c.1520A>T (p.Gln507Leu)
c.1013A>T (p.Gln338Leu)
19g.4816723T>CCA403489119TICAM1c.1655A>G (p.Gln552Arg)
c.1238A>G (p.Gln413Arg)
c.1613A>G (p.Gln538Arg)
c.1520A>G (p.Gln507Arg)
c.1013A>G (p.Gln338Arg)
19g.4816723T>GCA403489120TICAM1c.1655A>C (p.Gln552Pro)
c.1238A>C (p.Gln413Pro)
c.1613A>C (p.Gln538Pro)
c.1520A>C (p.Gln507Pro)
c.1013A>C (p.Gln338Pro)
19g.4816724G>ACA403489121TICAM1c.1654C>T (p.Gln552Ter)
c.1237C>T (p.Gln413Ter)
c.1612C>T (p.Gln538Ter)
c.1519C>T (p.Gln507Ter)
c.1012C>T (p.Gln338Ter)
19g.4816724G>CCA403489122TICAM1c.1654C>G (p.Gln552Glu)
c.1237C>G (p.Gln413Glu)
c.1612C>G (p.Gln538Glu)
c.1519C>G (p.Gln507Glu)
c.1012C>G (p.Gln338Glu)
19g.4816724G>TCA403489123TICAM1c.1654C>A (p.Gln552Lys)
c.1237C>A (p.Gln413Lys)
c.1612C>A (p.Gln538Lys)
c.1519C>A (p.Gln507Lys)
c.1012C>A (p.Gln338Lys)
dbSNP gnomAD v4
19g.4816725T>ACA403489124TICAM1c.1653A>T (p.Glu551Asp)
c.1236A>T (p.Glu412Asp)
c.1611A>T (p.Glu537Asp)
c.1518A>T (p.Glu506Asp)
c.1011A>T (p.Glu337Asp)
19g.4816725T>CCA505174103TICAM1c.1653A>G (p.Glu551=)
c.1236A>G (p.Glu412=)
c.1611A>G (p.Glu537=)
c.1518A>G (p.Glu506=)
c.1011A>G (p.Glu337=)
19g.4816725T>GCA403489125TICAM1c.1653A>C (p.Glu551Asp)
c.1236A>C (p.Glu412Asp)
c.1611A>C (p.Glu537Asp)
c.1518A>C (p.Glu506Asp)
c.1011A>C (p.Glu337Asp)
19g.4816726T>ACA403489126TICAM1c.1652A>T (p.Glu551Val)
c.1235A>T (p.Glu412Val)
c.1610A>T (p.Glu537Val)
c.1517A>T (p.Glu506Val)
c.1010A>T (p.Glu337Val)
19g.4816726T>CCA403489127TICAM1c.1652A>G (p.Glu551Gly)
c.1235A>G (p.Glu412Gly)
c.1610A>G (p.Glu537Gly)
c.1517A>G (p.Glu506Gly)
c.1010A>G (p.Glu337Gly)
19g.4816726T>GCA403489128TICAM1c.1652A>C (p.Glu551Ala)
c.1235A>C (p.Glu412Ala)
c.1610A>C (p.Glu537Ala)
c.1517A>C (p.Glu506Ala)
c.1010A>C (p.Glu337Ala)
19g.4816727C>ACA403489129TICAM1c.1651G>T (p.Glu551Ter)
c.1234G>T (p.Glu412Ter)
c.1609G>T (p.Glu537Ter)
c.1516G>T (p.Glu506Ter)
c.1009G>T (p.Glu337Ter)
gnomAD v4
19g.4816727C>GCA403489130TICAM1c.1651G>C (p.Glu551Gln)
c.1234G>C (p.Glu412Gln)
c.1609G>C (p.Glu537Gln)
c.1516G>C (p.Glu506Gln)
c.1009G>C (p.Glu337Gln)
gnomAD v4
19g.4816727C>TCA403489131TICAM1c.1651G>A (p.Glu551Lys)
c.1234G>A (p.Glu412Lys)
c.1609G>A (p.Glu537Lys)
c.1516G>A (p.Glu506Lys)
c.1009G>A (p.Glu337Lys)
19g.4816728C>ACA505174104TICAM1c.1650G>T (p.Arg550=)
c.1233G>T (p.Arg411=)
c.1608G>T (p.Arg536=)
c.1515G>T (p.Arg505=)
c.1008G>T (p.Arg336=)
19g.4816728C=CA2319604996TICAM1c.1650G= (p.Arg550=)
c.1233G= (p.Arg411=)
c.1608G= (p.Arg536=)
c.1515G= (p.Arg505=)
c.1008G= (p.Arg336=)
19g.4816728C>GCA505174105TICAM1c.1650G>C (p.Arg550=)
c.1233G>C (p.Arg411=)
c.1608G>C (p.Arg536=)
c.1515G>C (p.Arg505=)
c.1008G>C (p.Arg336=)
19g.4816728C>TCA9105090TICAM1c.1650G>A (p.Arg550=)
c.1233G>A (p.Arg411=)
c.1608G>A (p.Arg536=)
c.1515G>A (p.Arg505=)
c.1008G>A (p.Arg336=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816729C>ACA403489132TICAM1c.1649G>T (p.Arg550Leu)
c.1232G>T (p.Arg411Leu)
c.1607G>T (p.Arg536Leu)
c.1514G>T (p.Arg505Leu)
c.1007G>T (p.Arg336Leu)
19g.4816729C=CA2319604997TICAM1c.1649G= (p.Arg550=)
c.1232G= (p.Arg411=)
c.1607G= (p.Arg536=)
c.1514G= (p.Arg505=)
c.1007G= (p.Arg336=)
19g.4816729C>GCA403489133TICAM1c.1649G>C (p.Arg550Pro)
c.1232G>C (p.Arg411Pro)
c.1607G>C (p.Arg536Pro)
c.1514G>C (p.Arg505Pro)
c.1007G>C (p.Arg336Pro)
19g.4816729C>TCA403489134TICAM1c.1649G>A (p.Arg550Gln)
c.1232G>A (p.Arg411Gln)
c.1607G>A (p.Arg536Gln)
c.1514G>A (p.Arg505Gln)
c.1007G>A (p.Arg336Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.4816730G>ACA9105091TICAM1c.1648C>T (p.Arg550Trp)
c.1231C>T (p.Arg411Trp)
c.1606C>T (p.Arg536Trp)
c.1513C>T (p.Arg505Trp)
c.1006C>T (p.Arg336Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.4816730G>CCA403489135TICAM1c.1648C>G (p.Arg550Gly)
c.1231C>G (p.Arg411Gly)
c.1606C>G (p.Arg536Gly)
c.1513C>G (p.Arg505Gly)
c.1006C>G (p.Arg336Gly)
19g.4816730G=CA2319604998TICAM1c.1648C= (p.Arg550=)
c.1231C= (p.Arg411=)
c.1606C= (p.Arg536=)
c.1513C= (p.Arg505=)
c.1006C= (p.Arg336=)
19g.4816730G>TCA9105092TICAM1c.1648C>A (p.Arg550=)
c.1231C>A (p.Arg411=)
c.1606C>A (p.Arg536=)
c.1513C>A (p.Arg505=)
c.1006C>A (p.Arg336=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816731C>ACA505174107TICAM1c.1647G>T (p.Leu549=)
c.1230G>T (p.Leu410=)
c.1605G>T (p.Leu535=)
c.1512G>T (p.Leu504=)
c.1005G>T (p.Leu335=)
19g.4816731C=CA2319604999TICAM1c.1647G= (p.Leu549=)
c.1230G= (p.Leu410=)
c.1605G= (p.Leu535=)
c.1512G= (p.Leu504=)
c.1005G= (p.Leu335=)
19g.4816731C>GCA505174108TICAM1c.1647G>C (p.Leu549=)
c.1230G>C (p.Leu410=)
c.1605G>C (p.Leu535=)
c.1512G>C (p.Leu504=)
c.1005G>C (p.Leu335=)
19g.4816731C>TCA505174110TICAM1c.1647G>A (p.Leu549=)
c.1230G>A (p.Leu410=)
c.1605G>A (p.Leu535=)
c.1512G>A (p.Leu504=)
c.1005G>A (p.Leu335=)
dbSNP gnomAD v2 gnomAD v4
19g.4816732A>CCA403489137TICAM1c.1646T>G (p.Leu549Arg)
c.1229T>G (p.Leu410Arg)
c.1604T>G (p.Leu535Arg)
c.1511T>G (p.Leu504Arg)
c.1004T>G (p.Leu335Arg)
19g.4816732A>GCA403489138TICAM1c.1646T>C (p.Leu549Pro)
c.1229T>C (p.Leu410Pro)
c.1604T>C (p.Leu535Pro)
c.1511T>C (p.Leu504Pro)
c.1004T>C (p.Leu335Pro)
19g.4816732A>TCA403489136TICAM1c.1646T>A (p.Leu549Gln)
c.1229T>A (p.Leu410Gln)
c.1604T>A (p.Leu535Gln)
c.1511T>A (p.Leu504Gln)
c.1004T>A (p.Leu335Gln)
19g.4816733G>ACA505174112TICAM1c.1645C>T (p.Leu549=)
c.1228C>T (p.Leu410=)
c.1603C>T (p.Leu535=)
c.1510C>T (p.Leu504=)
c.1003C>T (p.Leu335=)
19g.4816733G>CCA403489140TICAM1c.1645C>G (p.Leu549Val)
c.1228C>G (p.Leu410Val)
c.1603C>G (p.Leu535Val)
c.1510C>G (p.Leu504Val)
c.1003C>G (p.Leu335Val)
19g.4816733G>TCA403489139TICAM1c.1645C>A (p.Leu549Met)
c.1228C>A (p.Leu410Met)
c.1603C>A (p.Leu535Met)
c.1510C>A (p.Leu504Met)
c.1003C>A (p.Leu335Met)
19g.4816734G>ACA505174113TICAM1c.1644C>T (p.Ala548=)
c.1227C>T (p.Ala409=)
c.1602C>T (p.Ala534=)
c.1509C>T (p.Ala503=)
c.1002C>T (p.Ala334=)
gnomAD v4
19g.4816734G>CCA505174114TICAM1c.1644C>G (p.Ala548=)
c.1227C>G (p.Ala409=)
c.1602C>G (p.Ala534=)
c.1509C>G (p.Ala503=)
c.1002C>G (p.Ala334=)
19g.4816734G>TCA505174115TICAM1c.1644C>A (p.Ala548=)
c.1227C>A (p.Ala409=)
c.1602C>A (p.Ala534=)
c.1509C>A (p.Ala503=)
c.1002C>A (p.Ala334=)
19g.4816735G>ACA403489143TICAM1c.1643C>T (p.Ala548Val)
c.1226C>T (p.Ala409Val)
c.1601C>T (p.Ala534Val)
c.1508C>T (p.Ala503Val)
c.1001C>T (p.Ala334Val)
gnomAD v4
19g.4816735G>CCA403489141TICAM1c.1643C>G (p.Ala548Gly)
c.1226C>G (p.Ala409Gly)
c.1601C>G (p.Ala534Gly)
c.1508C>G (p.Ala503Gly)
c.1001C>G (p.Ala334Gly)
19g.4816735G>TCA403489142TICAM1c.1643C>A (p.Ala548Asp)
c.1226C>A (p.Ala409Asp)
c.1601C>A (p.Ala534Asp)
c.1508C>A (p.Ala503Asp)
c.1001C>A (p.Ala334Asp)
gnomAD v4
19g.4816736C>ACA403489144TICAM1c.1642G>T (p.Ala548Ser)
c.1225G>T (p.Ala409Ser)
c.1600G>T (p.Ala534Ser)
c.1507G>T (p.Ala503Ser)
c.1000G>T (p.Ala334Ser)
19g.4816736C>GCA403489145TICAM1c.1642G>C (p.Ala548Pro)
c.1225G>C (p.Ala409Pro)
c.1600G>C (p.Ala534Pro)
c.1507G>C (p.Ala503Pro)
c.1000G>C (p.Ala334Pro)
19g.4816736C>TCA403489146TICAM1c.1642G>A (p.Ala548Thr)
c.1225G>A (p.Ala409Thr)
c.1600G>A (p.Ala534Thr)
c.1507G>A (p.Ala503Thr)
c.1000G>A (p.Ala334Thr)
19g.4816737T>ACA505174117TICAM1c.1641A>T (p.Arg547=)
c.1224A>T (p.Arg408=)
c.1599A>T (p.Arg533=)
c.1506A>T (p.Arg502=)
c.999A>T (p.Arg333=)
19g.4816737T>CCA505174118TICAM1c.1641A>G (p.Arg547=)
c.1224A>G (p.Arg408=)
c.1599A>G (p.Arg533=)
c.1506A>G (p.Arg502=)
c.999A>G (p.Arg333=)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.4816737T>GCA505174120TICAM1c.1641A>C (p.Arg547=)
c.1224A>C (p.Arg408=)
c.1599A>C (p.Arg533=)
c.1506A>C (p.Arg502=)
c.999A>C (p.Arg333=)
19g.4816737T=CA2319605000TICAM1c.1641A= (p.Arg547=)
c.1224A= (p.Arg408=)
c.1599A= (p.Arg533=)
c.1506A= (p.Arg502=)
c.999A= (p.Arg333=)
19g.4816738C>ACA403489147TICAM1c.1640G>T (p.Arg547Leu)
c.1223G>T (p.Arg408Leu)
c.1598G>T (p.Arg533Leu)
c.1505G>T (p.Arg502Leu)
c.998G>T (p.Arg333Leu)
19g.4816738C=CA2319605001TICAM1c.1640G= (p.Arg547=)
c.1223G= (p.Arg408=)
c.1598G= (p.Arg533=)
c.1505G= (p.Arg502=)
c.998G= (p.Arg333=)
19g.4816738C>GCA9105094TICAM1c.1640G>C (p.Arg547Pro)
c.1223G>C (p.Arg408Pro)
c.1598G>C (p.Arg533Pro)
c.1505G>C (p.Arg502Pro)
c.998G>C (p.Arg333Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816738C>TCA9105093TICAM1c.1640G>A (p.Arg547Gln)
c.1223G>A (p.Arg408Gln)
c.1598G>A (p.Arg533Gln)
c.1505G>A (p.Arg502Gln)
c.998G>A (p.Arg333Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816739G>ACA403489148TICAM1c.1639C>T (p.Arg547Ter)
c.1222C>T (p.Arg408Ter)
c.1597C>T (p.Arg533Ter)
c.1504C>T (p.Arg502Ter)
c.997C>T (p.Arg333Ter)
dbSNP gnomAD v2
19g.4816739G>CCA304547239TICAM1c.1639C>G (p.Arg547Gly)
c.1222C>G (p.Arg408Gly)
c.1597C>G (p.Arg533Gly)
c.1504C>G (p.Arg502Gly)
c.997C>G (p.Arg333Gly)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.4816739G=CA2319605002TICAM1c.1639C= (p.Arg547=)
c.1222C= (p.Arg408=)
c.1597C= (p.Arg533=)
c.1504C= (p.Arg502=)
c.997C= (p.Arg333=)
19g.4816739G>TCA505174121TICAM1c.1639C>A (p.Arg547=)
c.1222C>A (p.Arg408=)
c.1597C>A (p.Arg533=)
c.1504C>A (p.Arg502=)
c.997C>A (p.Arg333=)
gnomAD v4
19g.4816740G>ACA505174122TICAM1c.1638C>T (p.Thr546=)
c.1221C>T (p.Thr407=)
c.1596C>T (p.Thr532=)
c.1503C>T (p.Thr501=)
c.996C>T (p.Thr332=)
19g.4816740G>CCA505174124TICAM1c.1638C>G (p.Thr546=)
c.1221C>G (p.Thr407=)
c.1596C>G (p.Thr532=)
c.1503C>G (p.Thr501=)
c.996C>G (p.Thr332=)
19g.4816740G>TCA505174123TICAM1c.1638C>A (p.Thr546=)
c.1221C>A (p.Thr407=)
c.1596C>A (p.Thr532=)
c.1503C>A (p.Thr501=)
c.996C>A (p.Thr332=)
19g.4816741G>ACA403489149TICAM1c.1637C>T (p.Thr546Ile)
c.1220C>T (p.Thr407Ile)
c.1595C>T (p.Thr532Ile)
c.1502C>T (p.Thr501Ile)
c.995C>T (p.Thr332Ile)
19g.4816741G>CCA403489150TICAM1c.1637C>G (p.Thr546Ser)
c.1220C>G (p.Thr407Ser)
c.1595C>G (p.Thr532Ser)
c.1502C>G (p.Thr501Ser)
c.995C>G (p.Thr332Ser)
19g.4816741G=CA2319605003TICAM1c.1637C= (p.Thr546=)
c.1220C= (p.Thr407=)
c.1595C= (p.Thr532=)
c.1502C= (p.Thr501=)
c.995C= (p.Thr332=)
19g.4816741G>TCA9105095TICAM1c.1637C>A (p.Thr546Asn)
c.1220C>A (p.Thr407Asn)
c.1595C>A (p.Thr532Asn)
c.1502C>A (p.Thr501Asn)
c.995C>A (p.Thr332Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816742T>ACA403489153TICAM1c.1636A>T (p.Thr546Ser)
c.1219A>T (p.Thr407Ser)
c.1594A>T (p.Thr532Ser)
c.1501A>T (p.Thr501Ser)
c.994A>T (p.Thr332Ser)
19g.4816742T>CCA403489152TICAM1c.1636A>G (p.Thr546Ala)
c.1219A>G (p.Thr407Ala)
c.1594A>G (p.Thr532Ala)
c.1501A>G (p.Thr501Ala)
c.994A>G (p.Thr332Ala)
19g.4816742T>GCA403489151TICAM1c.1636A>C (p.Thr546Pro)
c.1219A>C (p.Thr407Pro)
c.1594A>C (p.Thr532Pro)
c.1501A>C (p.Thr501Pro)
c.994A>C (p.Thr332Pro)
dbSNP
19g.4816742T=CA2319605004TICAM1c.1636A= (p.Thr546=)
c.1219A= (p.Thr407=)
c.1594A= (p.Thr532=)
c.1501A= (p.Thr501=)
c.994A= (p.Thr332=)
19g.4816743G>ACA505174126TICAM1c.1635C>T (p.Asp545=)
c.1218C>T (p.Asp406=)
c.1593C>T (p.Asp531=)
c.1500C>T (p.Asp500=)
c.993C>T (p.Asp331=)
dbSNP gnomAD v2 gnomAD v4
19g.4816743G>CCA403489154TICAM1c.1635C>G (p.Asp545Glu)
c.1218C>G (p.Asp406Glu)
c.1593C>G (p.Asp531Glu)
c.1500C>G (p.Asp500Glu)
c.993C>G (p.Asp331Glu)
19g.4816743G=CA2319605005TICAM1c.1635C= (p.Asp545=)
c.1218C= (p.Asp406=)
c.1593C= (p.Asp531=)
c.1500C= (p.Asp500=)
c.993C= (p.Asp331=)
19g.4816743G>TCA403489155TICAM1c.1635C>A (p.Asp545Glu)
c.1218C>A (p.Asp406Glu)
c.1593C>A (p.Asp531Glu)
c.1500C>A (p.Asp500Glu)
c.993C>A (p.Asp331Glu)
19g.4816744T>ACA403489156TICAM1c.1634A>T (p.Asp545Val)
c.1217A>T (p.Asp406Val)
c.1592A>T (p.Asp531Val)
c.1499A>T (p.Asp500Val)
c.992A>T (p.Asp331Val)
19g.4816744T>CCA403489157TICAM1c.1634A>G (p.Asp545Gly)
c.1217A>G (p.Asp406Gly)
c.1592A>G (p.Asp531Gly)
c.1499A>G (p.Asp500Gly)
c.992A>G (p.Asp331Gly)
COSMIC
19g.4816744T>GCA403489158TICAM1c.1634A>C (p.Asp545Ala)
c.1217A>C (p.Asp406Ala)
c.1592A>C (p.Asp531Ala)
c.1499A>C (p.Asp500Ala)
c.992A>C (p.Asp331Ala)
19g.4816745C>ACA403489159TICAM1c.1633G>T (p.Asp545Tyr)
c.1216G>T (p.Asp406Tyr)
c.1591G>T (p.Asp531Tyr)
c.1498G>T (p.Asp500Tyr)
c.991G>T (p.Asp331Tyr)
19g.4816745C>GCA403489160TICAM1c.1633G>C (p.Asp545His)
c.1216G>C (p.Asp406His)
c.1591G>C (p.Asp531His)
c.1498G>C (p.Asp500His)
c.991G>C (p.Asp331His)
19g.4816745C>TCA403489161TICAM1c.1633G>A (p.Asp545Asn)
c.1216G>A (p.Asp406Asn)
c.1591G>A (p.Asp531Asn)
c.1498G>A (p.Asp500Asn)
c.991G>A (p.Asp331Asn)
gnomAD v4
19g.4816746C>ACA403489162TICAM1c.1632G>T (p.Gln544His)
c.1215G>T (p.Gln405His)
c.1590G>T (p.Gln530His)
c.1497G>T (p.Gln499His)
c.990G>T (p.Gln330His)
19g.4816746C=CA2319605006TICAM1c.1632G= (p.Gln544=)
c.1215G= (p.Gln405=)
c.1590G= (p.Gln530=)
c.1497G= (p.Gln499=)
c.990G= (p.Gln330=)
19g.4816746C>GCA403489163TICAM1c.1632G>C (p.Gln544His)
c.1215G>C (p.Gln405His)
c.1590G>C (p.Gln530His)
c.1497G>C (p.Gln499His)
c.990G>C (p.Gln330His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.4816746C>TCA505174128TICAM1c.1632G>A (p.Gln544=)
c.1215G>A (p.Gln405=)
c.1590G>A (p.Gln530=)
c.1497G>A (p.Gln499=)
c.990G>A (p.Gln330=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.4816747T>ACA403489164TICAM1c.1631A>T (p.Gln544Leu)
c.1214A>T (p.Gln405Leu)
c.1589A>T (p.Gln530Leu)
c.1496A>T (p.Gln499Leu)
c.989A>T (p.Gln330Leu)
19g.4816747T>CCA403489165TICAM1c.1631A>G (p.Gln544Arg)
c.1214A>G (p.Gln405Arg)
c.1589A>G (p.Gln530Arg)
c.1496A>G (p.Gln499Arg)
c.989A>G (p.Gln330Arg)
gnomAD v4
19g.4816747T>GCA403489166TICAM1c.1631A>C (p.Gln544Pro)
c.1214A>C (p.Gln405Pro)
c.1589A>C (p.Gln530Pro)
c.1496A>C (p.Gln499Pro)
c.989A>C (p.Gln330Pro)
19g.4816748_4816750dupCA631717165TICAM1c.1629_1631dup (p.Gln544_Asp545insGln)
c.1212_1214dup (p.Gln405_Asp406insGln)
c.1587_1589dup (p.Gln530_Asp531insGln)
c.1494_1496dup (p.Gln499_Asp500insGln)
c.987_989dup (p.Gln330_Asp331insGln)
dbSNP gnomAD v2 gnomAD v4
19g.4816748G>ACA403489168TICAM1c.1630C>T (p.Gln544Ter)
c.1213C>T (p.Gln405Ter)
c.1588C>T (p.Gln530Ter)
c.1495C>T (p.Gln499Ter)
c.988C>T (p.Gln330Ter)
dbSNP gnomAD v4
19g.4816748G>CCA403489169TICAM1c.1630C>G (p.Gln544Glu)
c.1213C>G (p.Gln405Glu)
c.1588C>G (p.Gln530Glu)
c.1495C>G (p.Gln499Glu)
c.988C>G (p.Gln330Glu)
dbSNP
19g.4816748G=CA2319605007TICAM1c.1630C= (p.Gln544=)
c.1213C= (p.Gln405=)
c.1588C= (p.Gln530=)
c.1495C= (p.Gln499=)
c.988C= (p.Gln330=)
19g.4816748G>TCA403489167TICAM1c.1630C>A (p.Gln544Lys)
c.1213C>A (p.Gln405Lys)
c.1588C>A (p.Gln530Lys)
c.1495C>A (p.Gln499Lys)
c.988C>A (p.Gln330Lys)
19g.4816749T>ACA403489170TICAM1c.1629A>T (p.Glu543Asp)
c.1212A>T (p.Glu404Asp)
c.1587A>T (p.Glu529Asp)
c.1494A>T (p.Glu498Asp)
c.987A>T (p.Glu329Asp)
19g.4816749T>CCA505174131TICAM1c.1629A>G (p.Glu543=)
c.1212A>G (p.Glu404=)
c.1587A>G (p.Glu529=)
c.1494A>G (p.Glu498=)
c.987A>G (p.Glu329=)
dbSNP gnomAD v4
19g.4816749T>GCA403489171TICAM1c.1629A>C (p.Glu543Asp)
c.1212A>C (p.Glu404Asp)
c.1587A>C (p.Glu529Asp)
c.1494A>C (p.Glu498Asp)
c.987A>C (p.Glu329Asp)
19g.4816749T=CA2319605008TICAM1c.1629A= (p.Glu543=)
c.1212A= (p.Glu404=)
c.1587A= (p.Glu529=)
c.1494A= (p.Glu498=)
c.987A= (p.Glu329=)
19g.4816754_4816757delCA2586031835TICAM1c.1626_1629del (p.Lys542AsnfsTer24)
c.1209_1212del (p.Lys403AsnfsTer24)
c.1584_1587del (p.Lys528AsnfsTer24)
c.1491_1494del (p.Lys497AsnfsTer24)
c.984_987del (p.Lys328AsnfsTer24)
gnomAD v4
19g.4816750T>ACA9105096TICAM1c.1628A>T (p.Glu543Val)
c.1211A>T (p.Glu404Val)
c.1586A>T (p.Glu529Val)
c.1493A>T (p.Glu498Val)
c.986A>T (p.Glu329Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816750T>CCA403489172TICAM1c.1628A>G (p.Glu543Gly)
c.1211A>G (p.Glu404Gly)
c.1586A>G (p.Glu529Gly)
c.1493A>G (p.Glu498Gly)
c.986A>G (p.Glu329Gly)
gnomAD v4
19g.4816750T>GCA403489173TICAM1c.1628A>C (p.Glu543Ala)
c.1211A>C (p.Glu404Ala)
c.1586A>C (p.Glu529Ala)
c.1493A>C (p.Glu498Ala)
c.986A>C (p.Glu329Ala)
19g.4816750T=CA2319605009TICAM1c.1628A= (p.Glu543=)
c.1211A= (p.Glu404=)
c.1586A= (p.Glu529=)
c.1493A= (p.Glu498=)
c.986A= (p.Glu329=)
19g.4816751C>ACA403489174TICAM1c.1627G>T (p.Glu543Ter)
c.1210G>T (p.Glu404Ter)
c.1585G>T (p.Glu529Ter)
c.1492G>T (p.Glu498Ter)
c.985G>T (p.Glu329Ter)
19g.4816751C>GCA403489175TICAM1c.1627G>C (p.Glu543Gln)
c.1210G>C (p.Glu404Gln)
c.1585G>C (p.Glu529Gln)
c.1492G>C (p.Glu498Gln)
c.985G>C (p.Glu329Gln)
19g.4816751C>TCA403489176TICAM1c.1627G>A (p.Glu543Lys)
c.1210G>A (p.Glu404Lys)
c.1585G>A (p.Glu529Lys)
c.1492G>A (p.Glu498Lys)
c.985G>A (p.Glu329Lys)
19g.4816752C>ACA403489177TICAM1c.1626G>T (p.Lys542Asn)
c.1209G>T (p.Lys403Asn)
c.1584G>T (p.Lys528Asn)
c.1491G>T (p.Lys497Asn)
c.984G>T (p.Lys328Asn)
19g.4816752C>GCA403489178TICAM1c.1626G>C (p.Lys542Asn)
c.1209G>C (p.Lys403Asn)
c.1584G>C (p.Lys528Asn)
c.1491G>C (p.Lys497Asn)
c.984G>C (p.Lys328Asn)
19g.4816752C>TCA505174135TICAM1c.1626G>A (p.Lys542=)
c.1209G>A (p.Lys403=)
c.1584G>A (p.Lys528=)
c.1491G>A (p.Lys497=)
c.984G>A (p.Lys328=)
19g.4816753T>ACA403489179TICAM1c.1625A>T (p.Lys542Met)
c.1208A>T (p.Lys403Met)
c.1583A>T (p.Lys528Met)
c.1490A>T (p.Lys497Met)
c.983A>T (p.Lys328Met)
dbSNP gnomAD v3 gnomAD v4
19g.4816753T>CCA403489180TICAM1c.1625A>G (p.Lys542Arg)
c.1208A>G (p.Lys403Arg)
c.1583A>G (p.Lys528Arg)
c.1490A>G (p.Lys497Arg)
c.983A>G (p.Lys328Arg)
gnomAD v4
19g.4816753T>GCA403489181TICAM1c.1625A>C (p.Lys542Thr)
c.1208A>C (p.Lys403Thr)
c.1583A>C (p.Lys528Thr)
c.1490A>C (p.Lys497Thr)
c.983A>C (p.Lys328Thr)
19g.4816753T=CA2319605010TICAM1c.1625A= (p.Lys542=)
c.1208A= (p.Lys403=)
c.1583A= (p.Lys528=)
c.1490A= (p.Lys497=)
c.983A= (p.Lys328=)
19g.4816754T>ACA403489182TICAM1c.1624A>T (p.Lys542Ter)
c.1207A>T (p.Lys403Ter)
c.1582A>T (p.Lys528Ter)
c.1489A>T (p.Lys497Ter)
c.982A>T (p.Lys328Ter)
19g.4816754T>CCA403489184TICAM1c.1624A>G (p.Lys542Glu)
c.1207A>G (p.Lys403Glu)
c.1582A>G (p.Lys528Glu)
c.1489A>G (p.Lys497Glu)
c.982A>G (p.Lys328Glu)
19g.4816754T>GCA403489183TICAM1c.1624A>C (p.Lys542Gln)
c.1207A>C (p.Lys403Gln)
c.1582A>C (p.Lys528Gln)
c.1489A>C (p.Lys497Gln)
c.982A>C (p.Lys328Gln)
19g.4816755C>ACA403489185TICAM1c.1623G>T (p.Arg541Ser)
c.1206G>T (p.Arg402Ser)
c.1581G>T (p.Arg527Ser)
c.1488G>T (p.Arg496Ser)
c.981G>T (p.Arg327Ser)
19g.4816755C>GCA403489186TICAM1c.1623G>C (p.Arg541Ser)
c.1206G>C (p.Arg402Ser)
c.1581G>C (p.Arg527Ser)
c.1488G>C (p.Arg496Ser)
c.981G>C (p.Arg327Ser)
19g.4816755C>TCA505174136TICAM1c.1623G>A (p.Arg541=)
c.1206G>A (p.Arg402=)
c.1581G>A (p.Arg527=)
c.1488G>A (p.Arg496=)
c.981G>A (p.Arg327=)
19g.4816756C>ACA403489187TICAM1c.1622G>T (p.Arg541Met)
c.1205G>T (p.Arg402Met)
c.1580G>T (p.Arg527Met)
c.1487G>T (p.Arg496Met)
c.980G>T (p.Arg327Met)
gnomAD v4
19g.4816756C>GCA403489188TICAM1c.1622G>C (p.Arg541Thr)
c.1205G>C (p.Arg402Thr)
c.1580G>C (p.Arg527Thr)
c.1487G>C (p.Arg496Thr)
c.980G>C (p.Arg327Thr)
19g.4816756C>TCA403489189TICAM1c.1622G>A (p.Arg541Lys)
c.1205G>A (p.Arg402Lys)
c.1580G>A (p.Arg527Lys)
c.1487G>A (p.Arg496Lys)
c.980G>A (p.Arg327Lys)
gnomAD v4
19g.4816757T>ACA403489190TICAM1c.1621A>T (p.Arg541Trp)
c.1204A>T (p.Arg402Trp)
c.1579A>T (p.Arg527Trp)
c.1486A>T (p.Arg496Trp)
c.979A>T (p.Arg327Trp)
gnomAD v4
19g.4816757T>CCA403489191TICAM1c.1621A>G (p.Arg541Gly)
c.1204A>G (p.Arg402Gly)
c.1579A>G (p.Arg527Gly)
c.1486A>G (p.Arg496Gly)
c.979A>G (p.Arg327Gly)
dbSNP gnomAD v2 gnomAD v4
19g.4816757T>GCA505174139TICAM1c.1621A>C (p.Arg541=)
c.1204A>C (p.Arg402=)
c.1579A>C (p.Arg527=)
c.1486A>C (p.Arg496=)
c.979A>C (p.Arg327=)
19g.4816757T=CA2319605011TICAM1c.1621A= (p.Arg541=)
c.1204A= (p.Arg402=)
c.1579A= (p.Arg527=)
c.1486A= (p.Arg496=)
c.979A= (p.Arg327=)
19g.4816758C>ACA403489192TICAM1c.1620G>T (p.Trp540Cys)
c.1203G>T (p.Trp401Cys)
c.1578G>T (p.Trp526Cys)
c.1485G>T (p.Trp495Cys)
c.978G>T (p.Trp326Cys)
19g.4816758C>GCA403489193TICAM1c.1620G>C (p.Trp540Cys)
c.1203G>C (p.Trp401Cys)
c.1578G>C (p.Trp526Cys)
c.1485G>C (p.Trp495Cys)
c.978G>C (p.Trp326Cys)
19g.4816758C>TCA403489194TICAM1c.1620G>A (p.Trp540Ter)
c.1203G>A (p.Trp401Ter)
c.1578G>A (p.Trp526Ter)
c.1485G>A (p.Trp495Ter)
c.978G>A (p.Trp326Ter)
19g.4816759C>ACA403489196TICAM1c.1619G>T (p.Trp540Leu)
c.1202G>T (p.Trp401Leu)
c.1577G>T (p.Trp526Leu)
c.1484G>T (p.Trp495Leu)
c.977G>T (p.Trp326Leu)
19g.4816759C>GCA403489197TICAM1c.1619G>C (p.Trp540Ser)
c.1202G>C (p.Trp401Ser)
c.1577G>C (p.Trp526Ser)
c.1484G>C (p.Trp495Ser)
c.977G>C (p.Trp326Ser)
19g.4816759C>TCA403489195TICAM1c.1619G>A (p.Trp540Ter)
c.1202G>A (p.Trp401Ter)
c.1577G>A (p.Trp526Ter)
c.1484G>A (p.Trp495Ter)
c.977G>A (p.Trp326Ter)
19g.4816760A>CCA403489200TICAM1c.1618T>G (p.Trp540Gly)
c.1201T>G (p.Trp401Gly)
c.1576T>G (p.Trp526Gly)
c.1483T>G (p.Trp495Gly)
c.976T>G (p.Trp326Gly)
19g.4816760A>GCA403489198TICAM1c.1618T>C (p.Trp540Arg)
c.1201T>C (p.Trp401Arg)
c.1576T>C (p.Trp526Arg)
c.1483T>C (p.Trp495Arg)
c.976T>C (p.Trp326Arg)
19g.4816760A>TCA403489199TICAM1c.1618T>A (p.Trp540Arg)
c.1201T>A (p.Trp401Arg)
c.1576T>A (p.Trp526Arg)
c.1483T>A (p.Trp495Arg)
c.976T>A (p.Trp326Arg)
19g.4816761C>ACA9105097TICAM1c.1617G>T (p.Met539Ile)
c.1200G>T (p.Met400Ile)
c.1575G>T (p.Met525Ile)
c.1482G>T (p.Met494Ile)
c.975G>T (p.Met325Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816761C=CA2319605012TICAM1c.1617G= (p.Met539=)
c.1200G= (p.Met400=)
c.1575G= (p.Met525=)
c.1482G= (p.Met494=)
c.975G= (p.Met325=)
19g.4816761C>GCA403489201TICAM1c.1617G>C (p.Met539Ile)
c.1200G>C (p.Met400Ile)
c.1575G>C (p.Met525Ile)
c.1482G>C (p.Met494Ile)
c.975G>C (p.Met325Ile)
19g.4816761C>TCA403489202TICAM1c.1617G>A (p.Met539Ile)
c.1200G>A (p.Met400Ile)
c.1575G>A (p.Met525Ile)
c.1482G>A (p.Met494Ile)
c.975G>A (p.Met325Ile)
gnomAD v4
19g.4816762A=CA2319605013TICAM1c.1616T= (p.Met539=)
c.1199T= (p.Met400=)
c.1574T= (p.Met525=)
c.1481T= (p.Met494=)
c.974T= (p.Met325=)
19g.4816762A>CCA403489204TICAM1c.1616T>G (p.Met539Arg)
c.1199T>G (p.Met400Arg)
c.1574T>G (p.Met525Arg)
c.1481T>G (p.Met494Arg)
c.974T>G (p.Met325Arg)
19g.4816762A>GCA304547251TICAM1c.1616T>C (p.Met539Thr)
c.1199T>C (p.Met400Thr)
c.1574T>C (p.Met525Thr)
c.1481T>C (p.Met494Thr)
c.974T>C (p.Met325Thr)
ClinVar dbSNP gnomAD v2
19g.4816762A>TCA403489203TICAM1c.1616T>A (p.Met539Lys)
c.1199T>A (p.Met400Lys)
c.1574T>A (p.Met525Lys)
c.1481T>A (p.Met494Lys)
c.974T>A (p.Met325Lys)
19g.4816763T>ACA403489205TICAM1c.1615A>T (p.Met539Leu)
c.1198A>T (p.Met400Leu)
c.1573A>T (p.Met525Leu)
c.1480A>T (p.Met494Leu)
c.973A>T (p.Met325Leu)
19g.4816763T>CCA9105098TICAM1c.1615A>G (p.Met539Val)
c.1198A>G (p.Met400Val)
c.1573A>G (p.Met525Val)
c.1480A>G (p.Met494Val)
c.973A>G (p.Met325Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816763T>GCA403489206TICAM1c.1615A>C (p.Met539Leu)
c.1198A>C (p.Met400Leu)
c.1573A>C (p.Met525Leu)
c.1480A>C (p.Met494Leu)
c.973A>C (p.Met325Leu)
gnomAD v4
19g.4816763T=CA2319605014TICAM1c.1615A= (p.Met539=)
c.1198A= (p.Met400=)
c.1573A= (p.Met525=)
c.1480A= (p.Met494=)
c.973A= (p.Met325=)
19g.4816764G>ACA505174143TICAM1c.1614C>T (p.Ala538=)
c.1197C>T (p.Ala399=)
c.1572C>T (p.Ala524=)
c.1479C>T (p.Ala493=)
c.972C>T (p.Ala324=)
19g.4816764G>CCA505174144TICAM1c.1614C>G (p.Ala538=)
c.1197C>G (p.Ala399=)
c.1572C>G (p.Ala524=)
c.1479C>G (p.Ala493=)
c.972C>G (p.Ala324=)
19g.4816764G>TCA505174145TICAM1c.1614C>A (p.Ala538=)
c.1197C>A (p.Ala399=)
c.1572C>A (p.Ala524=)
c.1479C>A (p.Ala493=)
c.972C>A (p.Ala324=)
gnomAD v4
19g.4816765G>ACA403489207TICAM1c.1613C>T (p.Ala538Val)
c.1196C>T (p.Ala399Val)
c.1571C>T (p.Ala524Val)
c.1478C>T (p.Ala493Val)
c.971C>T (p.Ala324Val)
19g.4816765G>CCA403489208TICAM1c.1613C>G (p.Ala538Gly)
c.1196C>G (p.Ala399Gly)
c.1571C>G (p.Ala524Gly)
c.1478C>G (p.Ala493Gly)
c.971C>G (p.Ala324Gly)
19g.4816765G>TCA403489209TICAM1c.1613C>A (p.Ala538Asp)
c.1196C>A (p.Ala399Asp)
c.1571C>A (p.Ala524Asp)
c.1478C>A (p.Ala493Asp)
c.971C>A (p.Ala324Asp)
19g.4816766C>ACA403489210TICAM1c.1612G>T (p.Ala538Ser)
c.1195G>T (p.Ala399Ser)
c.1570G>T (p.Ala524Ser)
c.1477G>T (p.Ala493Ser)
c.970G>T (p.Ala324Ser)
gnomAD v4
19g.4816766C>GCA403489212TICAM1c.1612G>C (p.Ala538Pro)
c.1195G>C (p.Ala399Pro)
c.1570G>C (p.Ala524Pro)
c.1477G>C (p.Ala493Pro)
c.970G>C (p.Ala324Pro)
19g.4816766C>TCA403489211TICAM1c.1612G>A (p.Ala538Thr)
c.1195G>A (p.Ala399Thr)
c.1570G>A (p.Ala524Thr)
c.1477G>A (p.Ala493Thr)
c.970G>A (p.Ala324Thr)
19g.4816767C>ACA403489213TICAM1c.1611G>T (p.Lys537Asn)
c.1194G>T (p.Lys398Asn)
c.1569G>T (p.Lys523Asn)
c.1476G>T (p.Lys492Asn)
c.969G>T (p.Lys323Asn)
19g.4816767C>GCA403489214TICAM1c.1611G>C (p.Lys537Asn)
c.1194G>C (p.Lys398Asn)
c.1569G>C (p.Lys523Asn)
c.1476G>C (p.Lys492Asn)
c.969G>C (p.Lys323Asn)
19g.4816767C>TCA505174149TICAM1c.1611G>A (p.Lys537=)
c.1194G>A (p.Lys398=)
c.1569G>A (p.Lys523=)
c.1476G>A (p.Lys492=)
c.969G>A (p.Lys323=)
19g.4816768T>ACA403489215TICAM1c.1610A>T (p.Lys537Met)
c.1193A>T (p.Lys398Met)
c.1568A>T (p.Lys523Met)
c.1475A>T (p.Lys492Met)
c.968A>T (p.Lys323Met)
19g.4816768T>CCA403489216TICAM1c.1610A>G (p.Lys537Arg)
c.1193A>G (p.Lys398Arg)
c.1568A>G (p.Lys523Arg)
c.1475A>G (p.Lys492Arg)
c.968A>G (p.Lys323Arg)
19g.4816768T>GCA403489217TICAM1c.1610A>C (p.Lys537Thr)
c.1193A>C (p.Lys398Thr)
c.1568A>C (p.Lys523Thr)
c.1475A>C (p.Lys492Thr)
c.968A>C (p.Lys323Thr)
gnomAD v4
19g.4816769T>ACA403489218TICAM1c.1609A>T (p.Lys537Ter)
c.1192A>T (p.Lys398Ter)
c.1567A>T (p.Lys523Ter)
c.1474A>T (p.Lys492Ter)
c.967A>T (p.Lys323Ter)
19g.4816769T>CCA403489219TICAM1c.1609A>G (p.Lys537Glu)
c.1192A>G (p.Lys398Glu)
c.1567A>G (p.Lys523Glu)
c.1474A>G (p.Lys492Glu)
c.967A>G (p.Lys323Glu)
19g.4816769T>GCA403489220TICAM1c.1609A>C (p.Lys537Gln)
c.1192A>C (p.Lys398Gln)
c.1567A>C (p.Lys523Gln)
c.1474A>C (p.Lys492Gln)
c.967A>C (p.Lys323Gln)
19g.4816770T>ACA505174151TICAM1c.1608A>T (p.Arg536=)
c.1191A>T (p.Arg397=)
c.1566A>T (p.Arg522=)
c.1473A>T (p.Arg491=)
c.966A>T (p.Arg322=)
19g.4816770T>CCA505174152TICAM1c.1608A>G (p.Arg536=)
c.1191A>G (p.Arg397=)
c.1566A>G (p.Arg522=)
c.1473A>G (p.Arg491=)
c.966A>G (p.Arg322=)
19g.4816770T>GCA505174150TICAM1c.1608A>C (p.Arg536=)
c.1191A>C (p.Arg397=)
c.1566A>C (p.Arg522=)
c.1473A>C (p.Arg491=)
c.966A>C (p.Arg322=)
19g.4816771C>ACA403489221TICAM1c.1607G>T (p.Arg536Leu)
c.1190G>T (p.Arg397Leu)
c.1565G>T (p.Arg522Leu)
c.1472G>T (p.Arg491Leu)
c.965G>T (p.Arg322Leu)
19g.4816771C=CA2319605015TICAM1c.1607G= (p.Arg536=)
c.1190G= (p.Arg397=)
c.1565G= (p.Arg522=)
c.1472G= (p.Arg491=)
c.965G= (p.Arg322=)
19g.4816771C>GCA403489222TICAM1c.1607G>C (p.Arg536Pro)
c.1190G>C (p.Arg397Pro)
c.1565G>C (p.Arg522Pro)
c.1472G>C (p.Arg491Pro)
c.965G>C (p.Arg322Pro)
19g.4816771C>TCA9105099TICAM1c.1607G>A (p.Arg536Gln)
c.1190G>A (p.Arg397Gln)
c.1565G>A (p.Arg522Gln)
c.1472G>A (p.Arg491Gln)
c.965G>A (p.Arg322Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.4816772G>ACA403489224TICAM1c.1606C>T (p.Arg536Ter)
c.1189C>T (p.Arg397Ter)
c.1564C>T (p.Arg522Ter)
c.1471C>T (p.Arg491Ter)
c.964C>T (p.Arg322Ter)
gnomAD v4
19g.4816772G>CCA403489223TICAM1c.1606C>G (p.Arg536Gly)
c.1189C>G (p.Arg397Gly)
c.1564C>G (p.Arg522Gly)
c.1471C>G (p.Arg491Gly)
c.964C>G (p.Arg322Gly)
19g.4816772G>TCA505174156TICAM1c.1606C>A (p.Arg536=)
c.1189C>A (p.Arg397=)
c.1564C>A (p.Arg522=)
c.1471C>A (p.Arg491=)
c.964C>A (p.Arg322=)
19g.4816774delCA2576579903TICAM1c.1606del (p.Arg536GlufsTer?)
c.1189del (p.Arg397GlufsTer?)
c.1564del (p.Arg522GlufsTer?)
c.1471del (p.Arg491GlufsTer?)
c.964del (p.Arg322GlufsTer?)
19g.4816773G>ACA9105100TICAM1c.1605C>T (p.Ala535=)
c.1188C>T (p.Ala396=)
c.1563C>T (p.Ala521=)
c.1470C>T (p.Ala490=)
c.963C>T (p.Ala321=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816773G>CCA505174157TICAM1c.1605C>G (p.Ala535=)
c.1188C>G (p.Ala396=)
c.1563C>G (p.Ala521=)
c.1470C>G (p.Ala490=)
c.963C>G (p.Ala321=)
19g.4816773G=CA2319605016TICAM1c.1605C= (p.Ala535=)
c.1188C= (p.Ala396=)
c.1563C= (p.Ala521=)
c.1470C= (p.Ala490=)
c.963C= (p.Ala321=)
19g.4816773G>TCA505174158TICAM1c.1605C>A (p.Ala535=)
c.1188C>A (p.Ala396=)
c.1563C>A (p.Ala521=)
c.1470C>A (p.Ala490=)
c.963C>A (p.Ala321=)
gnomAD v4
19g.4816774G>ACA403489225TICAM1c.1604C>T (p.Ala535Val)
c.1187C>T (p.Ala396Val)
c.1562C>T (p.Ala521Val)
c.1469C>T (p.Ala490Val)
c.962C>T (p.Ala321Val)
dbSNP gnomAD v2
19g.4816774G>CCA403489226TICAM1c.1604C>G (p.Ala535Gly)
c.1187C>G (p.Ala396Gly)
c.1562C>G (p.Ala521Gly)
c.1469C>G (p.Ala490Gly)
c.962C>G (p.Ala321Gly)
dbSNP gnomAD v2 gnomAD v4
19g.4816774G=CA2319605017TICAM1c.1604C= (p.Ala535=)
c.1187C= (p.Ala396=)
c.1562C= (p.Ala521=)
c.1469C= (p.Ala490=)
c.962C= (p.Ala321=)
19g.4816774G>TCA403489227TICAM1c.1604C>A (p.Ala535Asp)
c.1187C>A (p.Ala396Asp)
c.1562C>A (p.Ala521Asp)
c.1469C>A (p.Ala490Asp)
c.962C>A (p.Ala321Asp)
gnomAD v4
19g.4816775C>ACA403489228TICAM1c.1603G>T (p.Ala535Ser)
c.1186G>T (p.Ala396Ser)
c.1561G>T (p.Ala521Ser)
c.1468G>T (p.Ala490Ser)
c.961G>T (p.Ala321Ser)
gnomAD v4
19g.4816775C>GCA403489229TICAM1c.1603G>C (p.Ala535Pro)
c.1186G>C (p.Ala396Pro)
c.1561G>C (p.Ala521Pro)
c.1468G>C (p.Ala490Pro)
c.961G>C (p.Ala321Pro)
19g.4816775C>TCA403489230TICAM1c.1603G>A (p.Ala535Thr)
c.1186G>A (p.Ala396Thr)
c.1561G>A (p.Ala521Thr)
c.1468G>A (p.Ala490Thr)
c.961G>A (p.Ala321Thr)
19g.4816776C>ACA403489231TICAM1c.1602G>T (p.Gln534His)
c.1185G>T (p.Gln395His)
c.1560G>T (p.Gln520His)
c.1467G>T (p.Gln489His)
c.960G>T (p.Gln320His)
19g.4816776C>GCA403489232TICAM1c.1602G>C (p.Gln534His)
c.1185G>C (p.Gln395His)
c.1560G>C (p.Gln520His)
c.1467G>C (p.Gln489His)
c.960G>C (p.Gln320His)
19g.4816776C>TCA505174161TICAM1c.1602G>A (p.Gln534=)
c.1185G>A (p.Gln395=)
c.1560G>A (p.Gln520=)
c.1467G>A (p.Gln489=)
c.960G>A (p.Gln320=)
19g.4816777T>ACA403489233TICAM1c.1601A>T (p.Gln534Leu)
c.1184A>T (p.Gln395Leu)
c.1559A>T (p.Gln520Leu)
c.1466A>T (p.Gln489Leu)
c.959A>T (p.Gln320Leu)
19g.4816777T>CCA403489234TICAM1c.1601A>G (p.Gln534Arg)
c.1184A>G (p.Gln395Arg)
c.1559A>G (p.Gln520Arg)
c.1466A>G (p.Gln489Arg)
c.959A>G (p.Gln320Arg)
gnomAD v4
19g.4816777T>GCA403489235TICAM1c.1601A>C (p.Gln534Pro)
c.1184A>C (p.Gln395Pro)
c.1559A>C (p.Gln520Pro)
c.1466A>C (p.Gln489Pro)
c.959A>C (p.Gln320Pro)
dbSNP
19g.4816777T=CA2319605018TICAM1c.1601A= (p.Gln534=)
c.1184A= (p.Gln395=)
c.1559A= (p.Gln520=)
c.1466A= (p.Gln489=)
c.959A= (p.Gln320=)
19g.4816778G>ACA403489236TICAM1c.1600C>T (p.Gln534Ter)
c.1183C>T (p.Gln395Ter)
c.1558C>T (p.Gln520Ter)
c.1465C>T (p.Gln489Ter)
c.958C>T (p.Gln320Ter)
COSMIC
19g.4816778G>CCA403489237TICAM1c.1600C>G (p.Gln534Glu)
c.1183C>G (p.Gln395Glu)
c.1558C>G (p.Gln520Glu)
c.1465C>G (p.Gln489Glu)
c.958C>G (p.Gln320Glu)
gnomAD v4
19g.4816778G=CA2319605019TICAM1c.1600C= (p.Gln534=)
c.1183C= (p.Gln395=)
c.1558C= (p.Gln520=)
c.1465C= (p.Gln489=)
c.958C= (p.Gln320=)
19g.4816778G>TCA9105101TICAM1c.1600C>A (p.Gln534Lys)
c.1183C>A (p.Gln395Lys)
c.1558C>A (p.Gln520Lys)
c.1465C>A (p.Gln489Lys)
c.958C>A (p.Gln320Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816779A=CA2319605020TICAM1c.1599T= (p.Leu533=)
c.1182T= (p.Leu394=)
c.1557T= (p.Leu519=)
c.1464T= (p.Leu488=)
c.957T= (p.Leu319=)
19g.4816779A>CCA505174163TICAM1c.1599T>G (p.Leu533=)
c.1182T>G (p.Leu394=)
c.1557T>G (p.Leu519=)
c.1464T>G (p.Leu488=)
c.957T>G (p.Leu319=)
19g.4816779A>GCA505174164TICAM1c.1599T>C (p.Leu533=)
c.1182T>C (p.Leu394=)
c.1557T>C (p.Leu519=)
c.1464T>C (p.Leu488=)
c.957T>C (p.Leu319=)
19g.4816779A>TCA9105102TICAM1c.1599T>A (p.Leu533=)
c.1182T>A (p.Leu394=)
c.1557T>A (p.Leu519=)
c.1464T>A (p.Leu488=)
c.957T>A (p.Leu319=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816780A>CCA403489238TICAM1c.1598T>G (p.Leu533Arg)
c.1181T>G (p.Leu394Arg)
c.1556T>G (p.Leu519Arg)
c.1463T>G (p.Leu488Arg)
c.956T>G (p.Leu319Arg)
19g.4816780A>GCA403489239TICAM1c.1598T>C (p.Leu533Pro)
c.1181T>C (p.Leu394Pro)
c.1556T>C (p.Leu519Pro)
c.1463T>C (p.Leu488Pro)
c.956T>C (p.Leu319Pro)
gnomAD v4
19g.4816780A>TCA403489240TICAM1c.1598T>A (p.Leu533His)
c.1181T>A (p.Leu394His)
c.1556T>A (p.Leu519His)
c.1463T>A (p.Leu488His)
c.956T>A (p.Leu319His)
19g.4816781G>ACA304547271TICAM1c.1597C>T (p.Leu533Phe)
c.1180C>T (p.Leu394Phe)
c.1555C>T (p.Leu519Phe)
c.1462C>T (p.Leu488Phe)
c.955C>T (p.Leu319Phe)
dbSNP gnomAD v4
19g.4816781G>CCA403489241TICAM1c.1597C>G (p.Leu533Val)
c.1180C>G (p.Leu394Val)
c.1555C>G (p.Leu519Val)
c.1462C>G (p.Leu488Val)
c.955C>G (p.Leu319Val)
gnomAD v4
19g.4816781G=CA2319605021TICAM1c.1597C= (p.Leu533=)
c.1180C= (p.Leu394=)
c.1555C= (p.Leu519=)
c.1462C= (p.Leu488=)
c.955C= (p.Leu319=)
19g.4816781G>TCA403489242TICAM1c.1597C>A (p.Leu533Ile)
c.1180C>A (p.Leu394Ile)
c.1555C>A (p.Leu519Ile)
c.1462C>A (p.Leu488Ile)
c.955C>A (p.Leu319Ile)
19g.4816782C>ACA403489243TICAM1c.1596G>T (p.Arg532Ser)
c.1179G>T (p.Arg393Ser)
c.1554G>T (p.Arg518Ser)
c.1461G>T (p.Arg487Ser)
c.954G>T (p.Arg318Ser)
19g.4816782C=CA2319605022TICAM1c.1596G= (p.Arg532=)
c.1179G= (p.Arg393=)
c.1554G= (p.Arg518=)
c.1461G= (p.Arg487=)
c.954G= (p.Arg318=)
19g.4816782C>GCA403489244TICAM1c.1596G>C (p.Arg532Ser)
c.1179G>C (p.Arg393Ser)
c.1554G>C (p.Arg518Ser)
c.1461G>C (p.Arg487Ser)
c.954G>C (p.Arg318Ser)
gnomAD v4
19g.4816782C>TCA9105103TICAM1c.1596G>A (p.Arg532=)
c.1179G>A (p.Arg393=)
c.1554G>A (p.Arg518=)
c.1461G>A (p.Arg487=)
c.954G>A (p.Arg318=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816783C>ACA403489245TICAM1c.1595G>T (p.Arg532Met)
c.1178G>T (p.Arg393Met)
c.1553G>T (p.Arg518Met)
c.1460G>T (p.Arg487Met)
c.953G>T (p.Arg318Met)
19g.4816783C>GCA403489246TICAM1c.1595G>C (p.Arg532Thr)
c.1178G>C (p.Arg393Thr)
c.1553G>C (p.Arg518Thr)
c.1460G>C (p.Arg487Thr)
c.953G>C (p.Arg318Thr)
19g.4816783C>TCA403489247TICAM1c.1595G>A (p.Arg532Lys)
c.1178G>A (p.Arg393Lys)
c.1553G>A (p.Arg518Lys)
c.1460G>A (p.Arg487Lys)
c.953G>A (p.Arg318Lys)
19g.4816784T>ACA403489248TICAM1c.1594A>T (p.Arg532Trp)
c.1177A>T (p.Arg393Trp)
c.1552A>T (p.Arg518Trp)
c.1459A>T (p.Arg487Trp)
c.952A>T (p.Arg318Trp)
gnomAD v4
19g.4816784T>CCA403489249TICAM1c.1594A>G (p.Arg532Gly)
c.1177A>G (p.Arg393Gly)
c.1552A>G (p.Arg518Gly)
c.1459A>G (p.Arg487Gly)
c.952A>G (p.Arg318Gly)
19g.4816784T>GCA505174167TICAM1c.1594A>C (p.Arg532=)
c.1177A>C (p.Arg393=)
c.1552A>C (p.Arg518=)
c.1459A>C (p.Arg487=)
c.952A>C (p.Arg318=)
gnomAD v4
19g.4816785G>ACA505174168TICAM1c.1593C>T (p.His531=)
c.1176C>T (p.His392=)
c.1551C>T (p.His517=)
c.1458C>T (p.His486=)
c.951C>T (p.His317=)
gnomAD v4
19g.4816785G>CCA403489251TICAM1c.1593C>G (p.His531Gln)
c.1176C>G (p.His392Gln)
c.1551C>G (p.His517Gln)
c.1458C>G (p.His486Gln)
c.951C>G (p.His317Gln)
19g.4816785G>TCA403489250TICAM1c.1593C>A (p.His531Gln)
c.1176C>A (p.His392Gln)
c.1551C>A (p.His517Gln)
c.1458C>A (p.His486Gln)
c.951C>A (p.His317Gln)
gnomAD v4
19g.4816786T>ACA403489252TICAM1c.1592A>T (p.His531Leu)
c.1175A>T (p.His392Leu)
c.1550A>T (p.His517Leu)
c.1457A>T (p.His486Leu)
c.950A>T (p.His317Leu)
19g.4816786T>CCA403489254TICAM1c.1592A>G (p.His531Arg)
c.1175A>G (p.His392Arg)
c.1550A>G (p.His517Arg)
c.1457A>G (p.His486Arg)
c.950A>G (p.His317Arg)
dbSNP
19g.4816786T>GCA403489253TICAM1c.1592A>C (p.His531Pro)
c.1175A>C (p.His392Pro)
c.1550A>C (p.His517Pro)
c.1457A>C (p.His486Pro)
c.950A>C (p.His317Pro)
19g.4816786T=CA2319605023TICAM1c.1592A= (p.His531=)
c.1175A= (p.His392=)
c.1550A= (p.His517=)
c.1457A= (p.His486=)
c.950A= (p.His317=)
19g.4816787G>ACA403489255TICAM1c.1591C>T (p.His531Tyr)
c.1174C>T (p.His392Tyr)
c.1549C>T (p.His517Tyr)
c.1456C>T (p.His486Tyr)
c.949C>T (p.His317Tyr)
COSMIC
19g.4816787G>CCA403489257TICAM1c.1591C>G (p.His531Asp)
c.1174C>G (p.His392Asp)
c.1549C>G (p.His517Asp)
c.1456C>G (p.His486Asp)
c.949C>G (p.His317Asp)
19g.4816787G>TCA403489256TICAM1c.1591C>A (p.His531Asn)
c.1174C>A (p.His392Asn)
c.1549C>A (p.His517Asn)
c.1456C>A (p.His486Asn)
c.949C>A (p.His317Asn)
19g.4816788G>ACA505174170TICAM1c.1590C>T (p.Pro530=)
c.1173C>T (p.Pro391=)
c.1548C>T (p.Pro516=)
c.1455C>T (p.Pro485=)
c.948C>T (p.Pro316=)
19g.4816788G>CCA505174171TICAM1c.1590C>G (p.Pro530=)
c.1173C>G (p.Pro391=)
c.1548C>G (p.Pro516=)
c.1455C>G (p.Pro485=)
c.948C>G (p.Pro316=)
19g.4816788G>TCA505174172TICAM1c.1590C>A (p.Pro530=)
c.1173C>A (p.Pro391=)
c.1548C>A (p.Pro516=)
c.1455C>A (p.Pro485=)
c.948C>A (p.Pro316=)
COSMIC
19g.4816789G>ACA403489258TICAM1c.1589C>T (p.Pro530Leu)
c.1172C>T (p.Pro391Leu)
c.1547C>T (p.Pro516Leu)
c.1454C>T (p.Pro485Leu)
c.947C>T (p.Pro316Leu)
19g.4816789G>CCA403489259TICAM1c.1589C>G (p.Pro530Arg)
c.1172C>G (p.Pro391Arg)
c.1547C>G (p.Pro516Arg)
c.1454C>G (p.Pro485Arg)
c.947C>G (p.Pro316Arg)
19g.4816789G>TCA403489260TICAM1c.1589C>A (p.Pro530His)
c.1172C>A (p.Pro391His)
c.1547C>A (p.Pro516His)
c.1454C>A (p.Pro485His)
c.947C>A (p.Pro316His)
19g.4816790G>ACA403489261TICAM1c.1588C>T (p.Pro530Ser)
c.1171C>T (p.Pro391Ser)
c.1546C>T (p.Pro516Ser)
c.1453C>T (p.Pro485Ser)
c.946C>T (p.Pro316Ser)
19g.4816790G>CCA403489262TICAM1c.1588C>G (p.Pro530Ala)
c.1171C>G (p.Pro391Ala)
c.1546C>G (p.Pro516Ala)
c.1453C>G (p.Pro485Ala)
c.946C>G (p.Pro316Ala)
19g.4816790G>TCA403489263TICAM1c.1588C>A (p.Pro530Thr)
c.1171C>A (p.Pro391Thr)
c.1546C>A (p.Pro516Thr)
c.1453C>A (p.Pro485Thr)
c.946C>A (p.Pro316Thr)
gnomAD v4
19g.4816791C>ACA403489264TICAM1c.1587G>T (p.Lys529Asn)
c.1170G>T (p.Lys390Asn)
c.1545G>T (p.Lys515Asn)
c.1452G>T (p.Lys484Asn)
c.945G>T (p.Lys315Asn)
19g.4816791C=CA2319605024TICAM1c.1587G= (p.Lys529=)
c.1170G= (p.Lys390=)
c.1545G= (p.Lys515=)
c.1452G= (p.Lys484=)
c.945G= (p.Lys315=)
19g.4816791C>GCA403489265TICAM1c.1587G>C (p.Lys529Asn)
c.1170G>C (p.Lys390Asn)
c.1545G>C (p.Lys515Asn)
c.1452G>C (p.Lys484Asn)
c.945G>C (p.Lys315Asn)
19g.4816791C>TCA9105104TICAM1c.1587G>A (p.Lys529=)
c.1170G>A (p.Lys390=)
c.1545G>A (p.Lys515=)
c.1452G>A (p.Lys484=)
c.945G>A (p.Lys315=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816792T>ACA403489266TICAM1c.1586A>T (p.Lys529Met)
c.1169A>T (p.Lys390Met)
c.1544A>T (p.Lys515Met)
c.1451A>T (p.Lys484Met)
c.944A>T (p.Lys315Met)
19g.4816792T>CCA403489267TICAM1c.1586A>G (p.Lys529Arg)
c.1169A>G (p.Lys390Arg)
c.1544A>G (p.Lys515Arg)
c.1451A>G (p.Lys484Arg)
c.944A>G (p.Lys315Arg)
19g.4816792T>GCA403489268TICAM1c.1586A>C (p.Lys529Thr)
c.1169A>C (p.Lys390Thr)
c.1544A>C (p.Lys515Thr)
c.1451A>C (p.Lys484Thr)
c.944A>C (p.Lys315Thr)
dbSNP gnomAD v3 gnomAD v4
19g.4816792T=CA2319605025TICAM1c.1586A= (p.Lys529=)
c.1169A= (p.Lys390=)
c.1544A= (p.Lys515=)
c.1451A= (p.Lys484=)
c.944A= (p.Lys315=)
19g.4816793T>ACA403489269TICAM1c.1585A>T (p.Lys529Ter)
c.1168A>T (p.Lys390Ter)
c.1543A>T (p.Lys515Ter)
c.1450A>T (p.Lys484Ter)
c.943A>T (p.Lys315Ter)
19g.4816793T>CCA403489271TICAM1c.1585A>G (p.Lys529Glu)
c.1168A>G (p.Lys390Glu)
c.1543A>G (p.Lys515Glu)
c.1450A>G (p.Lys484Glu)
c.943A>G (p.Lys315Glu)
19g.4816793T>GCA403489270TICAM1c.1585A>C (p.Lys529Gln)
c.1168A>C (p.Lys390Gln)
c.1543A>C (p.Lys515Gln)
c.1450A>C (p.Lys484Gln)
c.943A>C (p.Lys315Gln)
19g.4816794G>ACA505174176TICAM1c.1584C>T (p.Phe528=)
c.1167C>T (p.Phe389=)
c.1542C>T (p.Phe514=)
c.1449C>T (p.Phe483=)
c.942C>T (p.Phe314=)
gnomAD v4
19g.4816794G>CCA403489272TICAM1c.1584C>G (p.Phe528Leu)
c.1167C>G (p.Phe389Leu)
c.1542C>G (p.Phe514Leu)
c.1449C>G (p.Phe483Leu)
c.942C>G (p.Phe314Leu)
19g.4816794G>TCA403489273TICAM1c.1584C>A (p.Phe528Leu)
c.1167C>A (p.Phe389Leu)
c.1542C>A (p.Phe514Leu)
c.1449C>A (p.Phe483Leu)
c.942C>A (p.Phe314Leu)
19g.4816795A>CCA403489274TICAM1c.1583T>G (p.Phe528Cys)
c.1166T>G (p.Phe389Cys)
c.1541T>G (p.Phe514Cys)
c.1448T>G (p.Phe483Cys)
c.941T>G (p.Phe314Cys)
19g.4816795A>GCA403489275TICAM1c.1583T>C (p.Phe528Ser)
c.1166T>C (p.Phe389Ser)
c.1541T>C (p.Phe514Ser)
c.1448T>C (p.Phe483Ser)
c.941T>C (p.Phe314Ser)
19g.4816795A>TCA403489276TICAM1c.1583T>A (p.Phe528Tyr)
c.1166T>A (p.Phe389Tyr)
c.1541T>A (p.Phe514Tyr)
c.1448T>A (p.Phe483Tyr)
c.941T>A (p.Phe314Tyr)
19g.4816796A>CCA403489277TICAM1c.1582T>G (p.Phe528Val)
c.1165T>G (p.Phe389Val)
c.1540T>G (p.Phe514Val)
c.1447T>G (p.Phe483Val)
c.940T>G (p.Phe314Val)
19g.4816796A>GCA403489278TICAM1c.1582T>C (p.Phe528Leu)
c.1165T>C (p.Phe389Leu)
c.1540T>C (p.Phe514Leu)
c.1447T>C (p.Phe483Leu)
c.940T>C (p.Phe314Leu)
gnomAD v4
19g.4816796A>TCA403489279TICAM1c.1582T>A (p.Phe528Ile)
c.1165T>A (p.Phe389Ile)
c.1540T>A (p.Phe514Ile)
c.1447T>A (p.Phe483Ile)
c.940T>A (p.Phe314Ile)
19g.4816797G>ACA505174178TICAM1c.1581C>T (p.Thr527=)
c.1164C>T (p.Thr388=)
c.1539C>T (p.Thr513=)
c.1446C>T (p.Thr482=)
c.939C>T (p.Thr313=)
dbSNP gnomAD v2 gnomAD v4
19g.4816797G>CCA505174181TICAM1c.1581C>G (p.Thr527=)
c.1164C>G (p.Thr388=)
c.1539C>G (p.Thr513=)
c.1446C>G (p.Thr482=)
c.939C>G (p.Thr313=)
19g.4816797G=CA2319605026TICAM1c.1581C= (p.Thr527=)
c.1164C= (p.Thr388=)
c.1539C= (p.Thr513=)
c.1446C= (p.Thr482=)
c.939C= (p.Thr313=)
19g.4816797G>TCA9105105TICAM1c.1581C>A (p.Thr527=)
c.1164C>A (p.Thr388=)
c.1539C>A (p.Thr513=)
c.1446C>A (p.Thr482=)
c.939C>A (p.Thr313=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816798G>ACA403489281TICAM1c.1580C>T (p.Thr527Ile)
c.1163C>T (p.Thr388Ile)
c.1538C>T (p.Thr513Ile)
c.1445C>T (p.Thr482Ile)
c.938C>T (p.Thr313Ile)
19g.4816798G>CCA403489282TICAM1c.1580C>G (p.Thr527Ser)
c.1163C>G (p.Thr388Ser)
c.1538C>G (p.Thr513Ser)
c.1445C>G (p.Thr482Ser)
c.938C>G (p.Thr313Ser)
19g.4816798G>TCA403489280TICAM1c.1580C>A (p.Thr527Asn)
c.1163C>A (p.Thr388Asn)
c.1538C>A (p.Thr513Asn)
c.1445C>A (p.Thr482Asn)
c.938C>A (p.Thr313Asn)
19g.4816799T>ACA403489283TICAM1c.1579A>T (p.Thr527Ser)
c.1162A>T (p.Thr388Ser)
c.1537A>T (p.Thr513Ser)
c.1444A>T (p.Thr482Ser)
c.937A>T (p.Thr313Ser)
19g.4816799T>CCA403489284TICAM1c.1579A>G (p.Thr527Ala)
c.1162A>G (p.Thr388Ala)
c.1537A>G (p.Thr513Ala)
c.1444A>G (p.Thr482Ala)
c.937A>G (p.Thr313Ala)
19g.4816799T>GCA403489285TICAM1c.1579A>C (p.Thr527Pro)
c.1162A>C (p.Thr388Pro)
c.1537A>C (p.Thr513Pro)
c.1444A>C (p.Thr482Pro)
c.937A>C (p.Thr313Pro)
dbSNP
19g.4816799T=CA2319605027TICAM1c.1579A= (p.Thr527=)
c.1162A= (p.Thr388=)
c.1537A= (p.Thr513=)
c.1444A= (p.Thr482=)
c.937A= (p.Thr313=)
19g.4816800G>ACA505174182TICAM1c.1578C>T (p.Asn526=)
c.1161C>T (p.Asn387=)
c.1536C>T (p.Asn512=)
c.1443C>T (p.Asn481=)
c.936C>T (p.Asn312=)
ClinVar gnomAD v4
19g.4816800G>CCA403489286TICAM1c.1578C>G (p.Asn526Lys)
c.1161C>G (p.Asn387Lys)
c.1536C>G (p.Asn512Lys)
c.1443C>G (p.Asn481Lys)
c.936C>G (p.Asn312Lys)
19g.4816800G>TCA403489287TICAM1c.1578C>A (p.Asn526Lys)
c.1161C>A (p.Asn387Lys)
c.1536C>A (p.Asn512Lys)
c.1443C>A (p.Asn481Lys)
c.936C>A (p.Asn312Lys)
gnomAD v4
19g.4816801T>ACA403489288TICAM1c.1577A>T (p.Asn526Ile)
c.1160A>T (p.Asn387Ile)
c.1535A>T (p.Asn512Ile)
c.1442A>T (p.Asn481Ile)
c.935A>T (p.Asn312Ile)
19g.4816801T>CCA403489289TICAM1c.1577A>G (p.Asn526Ser)
c.1160A>G (p.Asn387Ser)
c.1535A>G (p.Asn512Ser)
c.1442A>G (p.Asn481Ser)
c.935A>G (p.Asn312Ser)
19g.4816801T>GCA403489290TICAM1c.1577A>C (p.Asn526Thr)
c.1160A>C (p.Asn387Thr)
c.1535A>C (p.Asn512Thr)
c.1442A>C (p.Asn481Thr)
c.935A>C (p.Asn312Thr)
19g.4816802T>ACA403489291TICAM1c.1576A>T (p.Asn526Tyr)
c.1159A>T (p.Asn387Tyr)
c.1534A>T (p.Asn512Tyr)
c.1441A>T (p.Asn481Tyr)
c.934A>T (p.Asn312Tyr)
19g.4816802T>CCA403489292TICAM1c.1576A>G (p.Asn526Asp)
c.1159A>G (p.Asn387Asp)
c.1534A>G (p.Asn512Asp)
c.1441A>G (p.Asn481Asp)
c.934A>G (p.Asn312Asp)
19g.4816802T>GCA403489293TICAM1c.1576A>C (p.Asn526His)
c.1159A>C (p.Asn387His)
c.1534A>C (p.Asn512His)
c.1441A>C (p.Asn481His)
c.934A>C (p.Asn312His)
19g.4816803G>ACA505174184TICAM1c.1575C>T (p.Ala525=)
c.1158C>T (p.Ala386=)
c.1533C>T (p.Ala511=)
c.1440C>T (p.Ala480=)
c.933C>T (p.Ala311=)
19g.4816803G>CCA505174185TICAM1c.1575C>G (p.Ala525=)
c.1158C>G (p.Ala386=)
c.1533C>G (p.Ala511=)
c.1440C>G (p.Ala480=)
c.933C>G (p.Ala311=)
19g.4816803G>TCA505174186TICAM1c.1575C>A (p.Ala525=)
c.1158C>A (p.Ala386=)
c.1533C>A (p.Ala511=)
c.1440C>A (p.Ala480=)
c.933C>A (p.Ala311=)
19g.4816804G>ACA403489295TICAM1c.1574C>T (p.Ala525Val)
c.1157C>T (p.Ala386Val)
c.1532C>T (p.Ala511Val)
c.1439C>T (p.Ala480Val)
c.932C>T (p.Ala311Val)
19g.4816804G>CCA403489296TICAM1c.1574C>G (p.Ala525Gly)
c.1157C>G (p.Ala386Gly)
c.1532C>G (p.Ala511Gly)
c.1439C>G (p.Ala480Gly)
c.932C>G (p.Ala311Gly)
19g.4816804G>TCA403489294TICAM1c.1574C>A (p.Ala525Asp)
c.1157C>A (p.Ala386Asp)
c.1532C>A (p.Ala511Asp)
c.1439C>A (p.Ala480Asp)
c.932C>A (p.Ala311Asp)
19g.4816805C>ACA403489297TICAM1c.1573G>T (p.Ala525Ser)
c.1156G>T (p.Ala386Ser)
c.1531G>T (p.Ala511Ser)
c.1438G>T (p.Ala480Ser)
c.931G>T (p.Ala311Ser)
19g.4816805C>GCA403489298TICAM1c.1573G>C (p.Ala525Pro)
c.1156G>C (p.Ala386Pro)
c.1531G>C (p.Ala511Pro)
c.1438G>C (p.Ala480Pro)
c.931G>C (p.Ala311Pro)
19g.4816805C>TCA403489299TICAM1c.1573G>A (p.Ala525Thr)
c.1156G>A (p.Ala386Thr)
c.1531G>A (p.Ala511Thr)
c.1438G>A (p.Ala480Thr)
c.931G>A (p.Ala311Thr)
19g.4816806C>ACA505174187TICAM1c.1572G>T (p.Val524=)
c.1155G>T (p.Val385=)
c.1530G>T (p.Val510=)
c.1437G>T (p.Val479=)
c.930G>T (p.Val310=)
dbSNP gnomAD v2 gnomAD v4
19g.4816806C=CA2319605028TICAM1c.1572G= (p.Val524=)
c.1155G= (p.Val385=)
c.1530G= (p.Val510=)
c.1437G= (p.Val479=)
c.930G= (p.Val310=)
19g.4816806C>GCA505174188TICAM1c.1572G>C (p.Val524=)
c.1155G>C (p.Val385=)
c.1530G>C (p.Val510=)
c.1437G>C (p.Val479=)
c.930G>C (p.Val310=)
19g.4816806C>TCA505174189TICAM1c.1572G>A (p.Val524=)
c.1155G>A (p.Val385=)
c.1530G>A (p.Val510=)
c.1437G>A (p.Val479=)
c.930G>A (p.Val310=)
19g.4816807A>CCA403489300TICAM1c.1571T>G (p.Val524Gly)
c.1154T>G (p.Val385Gly)
c.1529T>G (p.Val510Gly)
c.1436T>G (p.Val479Gly)
c.929T>G (p.Val310Gly)
19g.4816807A>GCA403489301TICAM1c.1571T>C (p.Val524Ala)
c.1154T>C (p.Val385Ala)
c.1529T>C (p.Val510Ala)
c.1436T>C (p.Val479Ala)
c.929T>C (p.Val310Ala)
19g.4816807A>TCA403489302TICAM1c.1571T>A (p.Val524Glu)
c.1154T>A (p.Val385Glu)
c.1529T>A (p.Val510Glu)
c.1436T>A (p.Val479Glu)
c.929T>A (p.Val310Glu)
19g.4816808C>ACA403489303TICAM1c.1570G>T (p.Val524Leu)
c.1153G>T (p.Val385Leu)
c.1528G>T (p.Val510Leu)
c.1435G>T (p.Val479Leu)
c.928G>T (p.Val310Leu)
19g.4816808C>GCA403489305TICAM1c.1570G>C (p.Val524Leu)
c.1153G>C (p.Val385Leu)
c.1528G>C (p.Val510Leu)
c.1435G>C (p.Val479Leu)
c.928G>C (p.Val310Leu)
19g.4816808C>TCA403489304TICAM1c.1570G>A (p.Val524Met)
c.1153G>A (p.Val385Met)
c.1528G>A (p.Val510Met)
c.1435G>A (p.Val479Met)
c.928G>A (p.Val310Met)
19g.4816809C>ACA403489306TICAM1c.1569G>T (p.Lys523Asn)
c.1152G>T (p.Lys384Asn)
c.1527G>T (p.Lys509Asn)
c.1434G>T (p.Lys478Asn)
c.927G>T (p.Lys309Asn)
19g.4816809C=CA2319605029TICAM1c.1569G= (p.Lys523=)
c.1152G= (p.Lys384=)
c.1527G= (p.Lys509=)
c.1434G= (p.Lys478=)
c.927G= (p.Lys309=)
19g.4816809C>GCA403489307TICAM1c.1569G>C (p.Lys523Asn)
c.1152G>C (p.Lys384Asn)
c.1527G>C (p.Lys509Asn)
c.1434G>C (p.Lys478Asn)
c.927G>C (p.Lys309Asn)
19g.4816809C>TCA505174193TICAM1c.1569G>A (p.Lys523=)
c.1152G>A (p.Lys384=)
c.1527G>A (p.Lys509=)
c.1434G>A (p.Lys478=)
c.927G>A (p.Lys309=)
dbSNP gnomAD v4
19g.4816810T>ACA403489308TICAM1c.1568A>T (p.Lys523Met)
c.1151A>T (p.Lys384Met)
c.1526A>T (p.Lys509Met)
c.1433A>T (p.Lys478Met)
c.926A>T (p.Lys309Met)
19g.4816810T>CCA403489309TICAM1c.1568A>G (p.Lys523Arg)
c.1151A>G (p.Lys384Arg)
c.1526A>G (p.Lys509Arg)
c.1433A>G (p.Lys478Arg)
c.926A>G (p.Lys309Arg)
19g.4816810T>GCA403489310TICAM1c.1568A>C (p.Lys523Thr)
c.1151A>C (p.Lys384Thr)
c.1526A>C (p.Lys509Thr)
c.1433A>C (p.Lys478Thr)
c.926A>C (p.Lys309Thr)
19g.4816811T>ACA403489312TICAM1c.1567A>T (p.Lys523Ter)
c.1150A>T (p.Lys384Ter)
c.1525A>T (p.Lys509Ter)
c.1432A>T (p.Lys478Ter)
c.925A>T (p.Lys309Ter)
19g.4816811T>CCA403489313TICAM1c.1567A>G (p.Lys523Glu)
c.1150A>G (p.Lys384Glu)
c.1525A>G (p.Lys509Glu)
c.1432A>G (p.Lys478Glu)
c.925A>G (p.Lys309Glu)
19g.4816811T>GCA403489311TICAM1c.1567A>C (p.Lys523Gln)
c.1150A>C (p.Lys384Gln)
c.1525A>C (p.Lys509Gln)
c.1432A>C (p.Lys478Gln)
c.925A>C (p.Lys309Gln)
19g.4816812C>ACA403489314TICAM1c.1566G>T (p.Arg522Ser)
c.1149G>T (p.Arg383Ser)
c.1524G>T (p.Arg508Ser)
c.1431G>T (p.Arg477Ser)
c.924G>T (p.Arg308Ser)
19g.4816812C=CA2319605030TICAM1c.1566G= (p.Arg522=)
c.1149G= (p.Arg383=)
c.1524G= (p.Arg508=)
c.1431G= (p.Arg477=)
c.924G= (p.Arg308=)
19g.4816812C>GCA9105106TICAM1c.1566G>C (p.Arg522Ser)
c.1149G>C (p.Arg383Ser)
c.1524G>C (p.Arg508Ser)
c.1431G>C (p.Arg477Ser)
c.924G>C (p.Arg308Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816812C>TCA505174194TICAM1c.1566G>A (p.Arg522=)
c.1149G>A (p.Arg383=)
c.1524G>A (p.Arg508=)
c.1431G>A (p.Arg477=)
c.924G>A (p.Arg308=)
dbSNP
19g.4816813C>ACA403489315TICAM1c.1565G>T (p.Arg522Met)
c.1148G>T (p.Arg383Met)
c.1523G>T (p.Arg508Met)
c.1430G>T (p.Arg477Met)
c.923G>T (p.Arg308Met)
19g.4816813C>GCA403489316TICAM1c.1565G>C (p.Arg522Thr)
c.1148G>C (p.Arg383Thr)
c.1523G>C (p.Arg508Thr)
c.1430G>C (p.Arg477Thr)
c.923G>C (p.Arg308Thr)
19g.4816813C>TCA403489317TICAM1c.1565G>A (p.Arg522Lys)
c.1148G>A (p.Arg383Lys)
c.1523G>A (p.Arg508Lys)
c.1430G>A (p.Arg477Lys)
c.923G>A (p.Arg308Lys)

Number of alleles fetched