Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.4816920G>ACA505174374TICAM1c.1458C>T (p.Val486=)
c.1041C>T (p.Val347=)
c.1416C>T (p.Val472=)
c.1323C>T (p.Val441=)
c.816C>T (p.Val272=)
19g.4816920G>CCA505174375TICAM1c.1458C>G (p.Val486=)
c.1041C>G (p.Val347=)
c.1416C>G (p.Val472=)
c.1323C>G (p.Val441=)
c.816C>G (p.Val272=)
19g.4816920G>TCA505174376TICAM1c.1458C>A (p.Val486=)
c.1041C>A (p.Val347=)
c.1416C>A (p.Val472=)
c.1323C>A (p.Val441=)
c.816C>A (p.Val272=)
19g.4816921A>CCA403489540TICAM1c.1457T>G (p.Val486Gly)
c.1040T>G (p.Val347Gly)
c.1415T>G (p.Val472Gly)
c.1322T>G (p.Val441Gly)
c.815T>G (p.Val272Gly)
19g.4816921A>GCA403489542TICAM1c.1457T>C (p.Val486Ala)
c.1040T>C (p.Val347Ala)
c.1415T>C (p.Val472Ala)
c.1322T>C (p.Val441Ala)
c.815T>C (p.Val272Ala)
19g.4816921A>TCA403489543TICAM1c.1457T>A (p.Val486Asp)
c.1040T>A (p.Val347Asp)
c.1415T>A (p.Val472Asp)
c.1322T>A (p.Val441Asp)
c.815T>A (p.Val272Asp)
19g.4816924_4816925delCA2586031838TICAM1c.1456_1457del (p.Val486HisfsTer?)
c.1039_1040del (p.Val347HisfsTer?)
c.1414_1415del (p.Val472HisfsTer?)
c.1321_1322del (p.Val441HisfsTer?)
c.814_815del (p.Val272HisfsTer?)
gnomAD v4
19g.4816922C>ACA403489546TICAM1c.1456G>T (p.Val486Phe)
c.1039G>T (p.Val347Phe)
c.1414G>T (p.Val472Phe)
c.1321G>T (p.Val441Phe)
c.814G>T (p.Val272Phe)
19g.4816922C>GCA403489548TICAM1c.1456G>C (p.Val486Leu)
c.1039G>C (p.Val347Leu)
c.1414G>C (p.Val472Leu)
c.1321G>C (p.Val441Leu)
c.814G>C (p.Val272Leu)
19g.4816922C>TCA403489549TICAM1c.1456G>A (p.Val486Ile)
c.1039G>A (p.Val347Ile)
c.1414G>A (p.Val472Ile)
c.1321G>A (p.Val441Ile)
c.814G>A (p.Val272Ile)
gnomAD v4
19g.4816923A>CCA403489552TICAM1c.1455T>G (p.Cys485Trp)
c.1038T>G (p.Cys346Trp)
c.1413T>G (p.Cys471Trp)
c.1320T>G (p.Cys440Trp)
c.813T>G (p.Cys271Trp)
19g.4816923A>GCA505174381TICAM1c.1455T>C (p.Cys485=)
c.1038T>C (p.Cys346=)
c.1413T>C (p.Cys471=)
c.1320T>C (p.Cys440=)
c.813T>C (p.Cys271=)
19g.4816923A>TCA403489553TICAM1c.1455T>A (p.Cys485Ter)
c.1038T>A (p.Cys346Ter)
c.1413T>A (p.Cys471Ter)
c.1320T>A (p.Cys440Ter)
c.813T>A (p.Cys271Ter)
19g.4816924C>ACA403489555TICAM1c.1454G>T (p.Cys485Phe)
c.1037G>T (p.Cys346Phe)
c.1412G>T (p.Cys471Phe)
c.1319G>T (p.Cys440Phe)
c.812G>T (p.Cys271Phe)
19g.4816924C=CA2319605073TICAM1c.1454G= (p.Cys485=)
c.1037G= (p.Cys346=)
c.1412G= (p.Cys471=)
c.1319G= (p.Cys440=)
c.812G= (p.Cys271=)
19g.4816924C>GCA403489558TICAM1c.1454G>C (p.Cys485Ser)
c.1037G>C (p.Cys346Ser)
c.1412G>C (p.Cys471Ser)
c.1319G>C (p.Cys440Ser)
c.812G>C (p.Cys271Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.4816924C>TCA9105129TICAM1c.1454G>A (p.Cys485Tyr)
c.1037G>A (p.Cys346Tyr)
c.1412G>A (p.Cys471Tyr)
c.1319G>A (p.Cys440Tyr)
c.812G>A (p.Cys271Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816925A>CCA403489561TICAM1c.1453T>G (p.Cys485Gly)
c.1036T>G (p.Cys346Gly)
c.1411T>G (p.Cys471Gly)
c.1318T>G (p.Cys440Gly)
c.811T>G (p.Cys271Gly)
19g.4816925A>GCA403489564TICAM1c.1453T>C (p.Cys485Arg)
c.1036T>C (p.Cys346Arg)
c.1411T>C (p.Cys471Arg)
c.1318T>C (p.Cys440Arg)
c.811T>C (p.Cys271Arg)
19g.4816925A>TCA403489562TICAM1c.1453T>A (p.Cys485Ser)
c.1036T>A (p.Cys346Ser)
c.1411T>A (p.Cys471Ser)
c.1318T>A (p.Cys440Ser)
c.811T>A (p.Cys271Ser)
19g.4816926G>ACA505174383TICAM1c.1452C>T (p.Asp484=)
c.1035C>T (p.Asp345=)
c.1410C>T (p.Asp470=)
c.1317C>T (p.Asp439=)
c.810C>T (p.Asp270=)
19g.4816926G>CCA403489566TICAM1c.1452C>G (p.Asp484Glu)
c.1035C>G (p.Asp345Glu)
c.1410C>G (p.Asp470Glu)
c.1317C>G (p.Asp439Glu)
c.810C>G (p.Asp270Glu)
gnomAD v4
19g.4816926G>TCA403489568TICAM1c.1452C>A (p.Asp484Glu)
c.1035C>A (p.Asp345Glu)
c.1410C>A (p.Asp470Glu)
c.1317C>A (p.Asp439Glu)
c.810C>A (p.Asp270Glu)
19g.4816927T>ACA9105130TICAM1c.1451A>T (p.Asp484Val)
c.1034A>T (p.Asp345Val)
c.1409A>T (p.Asp470Val)
c.1316A>T (p.Asp439Val)
c.809A>T (p.Asp270Val)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816927T>CCA403489571TICAM1c.1451A>G (p.Asp484Gly)
c.1034A>G (p.Asp345Gly)
c.1409A>G (p.Asp470Gly)
c.1316A>G (p.Asp439Gly)
c.809A>G (p.Asp270Gly)
19g.4816927T>GCA403489573TICAM1c.1451A>C (p.Asp484Ala)
c.1034A>C (p.Asp345Ala)
c.1409A>C (p.Asp470Ala)
c.1316A>C (p.Asp439Ala)
c.809A>C (p.Asp270Ala)
dbSNP gnomAD v2 gnomAD v4
19g.4816927T=CA2319605074TICAM1c.1451A= (p.Asp484=)
c.1034A= (p.Asp345=)
c.1409A= (p.Asp470=)
c.1316A= (p.Asp439=)
c.809A= (p.Asp270=)
19g.4816928C>ACA9105131TICAM1c.1450G>T (p.Asp484Tyr)
c.1033G>T (p.Asp345Tyr)
c.1408G>T (p.Asp470Tyr)
c.1315G>T (p.Asp439Tyr)
c.808G>T (p.Asp270Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816928C=CA2319605075TICAM1c.1450G= (p.Asp484=)
c.1033G= (p.Asp345=)
c.1408G= (p.Asp470=)
c.1315G= (p.Asp439=)
c.808G= (p.Asp270=)
19g.4816928C>GCA403489576TICAM1c.1450G>C (p.Asp484His)
c.1033G>C (p.Asp345His)
c.1408G>C (p.Asp470His)
c.1315G>C (p.Asp439His)
c.808G>C (p.Asp270His)
19g.4816928C>TCA403489578TICAM1c.1450G>A (p.Asp484Asn)
c.1033G>A (p.Asp345Asn)
c.1408G>A (p.Asp470Asn)
c.1315G>A (p.Asp439Asn)
c.808G>A (p.Asp270Asn)
dbSNP
19g.4816929T>ACA505174388TICAM1c.1449A>T (p.Pro483=)
c.1032A>T (p.Pro344=)
c.1407A>T (p.Pro469=)
c.1314A>T (p.Pro438=)
c.807A>T (p.Pro269=)
dbSNP
19g.4816929T>CCA505174389TICAM1c.1449A>G (p.Pro483=)
c.1032A>G (p.Pro344=)
c.1407A>G (p.Pro469=)
c.1314A>G (p.Pro438=)
c.807A>G (p.Pro269=)
dbSNP gnomAD v2
19g.4816929T>GCA505174390TICAM1c.1449A>C (p.Pro483=)
c.1032A>C (p.Pro344=)
c.1407A>C (p.Pro469=)
c.1314A>C (p.Pro438=)
c.807A>C (p.Pro269=)
19g.4816929T=CA2319605076TICAM1c.1449A= (p.Pro483=)
c.1032A= (p.Pro344=)
c.1407A= (p.Pro469=)
c.1314A= (p.Pro438=)
c.807A= (p.Pro269=)
19g.4816930G>ACA403489581TICAM1c.1448C>T (p.Pro483Leu)
c.1031C>T (p.Pro344Leu)
c.1406C>T (p.Pro469Leu)
c.1313C>T (p.Pro438Leu)
c.806C>T (p.Pro269Leu)
19g.4816930G>CCA403489583TICAM1c.1448C>G (p.Pro483Arg)
c.1031C>G (p.Pro344Arg)
c.1406C>G (p.Pro469Arg)
c.1313C>G (p.Pro438Arg)
c.806C>G (p.Pro269Arg)
dbSNP
19g.4816930G=CA2319605077TICAM1c.1448C= (p.Pro483=)
c.1031C= (p.Pro344=)
c.1406C= (p.Pro469=)
c.1313C= (p.Pro438=)
c.806C= (p.Pro269=)
19g.4816930G>TCA403489584TICAM1c.1448C>A (p.Pro483Gln)
c.1031C>A (p.Pro344Gln)
c.1406C>A (p.Pro469Gln)
c.1313C>A (p.Pro438Gln)
c.806C>A (p.Pro269Gln)
19g.4816931G>ACA9105132TICAM1c.1447C>T (p.Pro483Ser)
c.1030C>T (p.Pro344Ser)
c.1405C>T (p.Pro469Ser)
c.1312C>T (p.Pro438Ser)
c.805C>T (p.Pro269Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816931G>CCA403489586TICAM1c.1447C>G (p.Pro483Ala)
c.1030C>G (p.Pro344Ala)
c.1405C>G (p.Pro469Ala)
c.1312C>G (p.Pro438Ala)
c.805C>G (p.Pro269Ala)
19g.4816931G=CA2319605078TICAM1c.1447C= (p.Pro483=)
c.1030C= (p.Pro344=)
c.1405C= (p.Pro469=)
c.1312C= (p.Pro438=)
c.805C= (p.Pro269=)
19g.4816931G>TCA403489588TICAM1c.1447C>A (p.Pro483Thr)
c.1030C>A (p.Pro344Thr)
c.1405C>A (p.Pro469Thr)
c.1312C>A (p.Pro438Thr)
c.805C>A (p.Pro269Thr)
19g.4816932C>ACA505174392TICAM1c.1446G>T (p.Ser482=)
c.1029G>T (p.Ser343=)
c.1404G>T (p.Ser468=)
c.1311G>T (p.Ser437=)
c.804G>T (p.Ser268=)
dbSNP
19g.4816932C=CA2319605079TICAM1c.1446G= (p.Ser482=)
c.1029G= (p.Ser343=)
c.1404G= (p.Ser468=)
c.1311G= (p.Ser437=)
c.804G= (p.Ser268=)
19g.4816932C>GCA505174393TICAM1c.1446G>C (p.Ser482=)
c.1029G>C (p.Ser343=)
c.1404G>C (p.Ser468=)
c.1311G>C (p.Ser437=)
c.804G>C (p.Ser268=)
gnomAD v4
19g.4816932C>TCA9105133TICAM1c.1446G>A (p.Ser482=)
c.1029G>A (p.Ser343=)
c.1404G>A (p.Ser468=)
c.1311G>A (p.Ser437=)
c.804G>A (p.Ser268=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.4816933G>ACA403489592TICAM1c.1445C>T (p.Ser482Leu)
c.1028C>T (p.Ser343Leu)
c.1403C>T (p.Ser468Leu)
c.1310C>T (p.Ser437Leu)
c.803C>T (p.Ser268Leu)
dbSNP gnomAD v3 gnomAD v4
19g.4816933G>CCA403489594TICAM1c.1445C>G (p.Ser482Trp)
c.1028C>G (p.Ser343Trp)
c.1403C>G (p.Ser468Trp)
c.1310C>G (p.Ser437Trp)
c.803C>G (p.Ser268Trp)
gnomAD v4
19g.4816933G=CA2319605080TICAM1c.1445C= (p.Ser482=)
c.1028C= (p.Ser343=)
c.1403C= (p.Ser468=)
c.1310C= (p.Ser437=)
c.803C= (p.Ser268=)
19g.4816933G>TCA403489596TICAM1c.1445C>A (p.Ser482Ter)
c.1028C>A (p.Ser343Ter)
c.1403C>A (p.Ser468Ter)
c.1310C>A (p.Ser437Ter)
c.803C>A (p.Ser268Ter)
19g.4816934A>CCA403489597TICAM1c.1444T>G (p.Ser482Ala)
c.1027T>G (p.Ser343Ala)
c.1402T>G (p.Ser468Ala)
c.1309T>G (p.Ser437Ala)
c.802T>G (p.Ser268Ala)
19g.4816934A>GCA403489598TICAM1c.1444T>C (p.Ser482Pro)
c.1027T>C (p.Ser343Pro)
c.1402T>C (p.Ser468Pro)
c.1309T>C (p.Ser437Pro)
c.802T>C (p.Ser268Pro)
19g.4816934A>TCA403489600TICAM1c.1444T>A (p.Ser482Thr)
c.1027T>A (p.Ser343Thr)
c.1402T>A (p.Ser468Thr)
c.1309T>A (p.Ser437Thr)
c.802T>A (p.Ser268Thr)
19g.4816935C>ACA505174395TICAM1c.1443G>T (p.Gly481=)
c.1026G>T (p.Gly342=)
c.1401G>T (p.Gly467=)
c.1308G>T (p.Gly436=)
c.801G>T (p.Gly267=)
gnomAD v4
19g.4816935C>GCA505174396TICAM1c.1443G>C (p.Gly481=)
c.1026G>C (p.Gly342=)
c.1401G>C (p.Gly467=)
c.1308G>C (p.Gly436=)
c.801G>C (p.Gly267=)
19g.4816935C>TCA505174397TICAM1c.1443G>A (p.Gly481=)
c.1026G>A (p.Gly342=)
c.1401G>A (p.Gly467=)
c.1308G>A (p.Gly436=)
c.801G>A (p.Gly267=)
19g.4816936C>ACA403489603TICAM1c.1442G>T (p.Gly481Val)
c.1025G>T (p.Gly342Val)
c.1400G>T (p.Gly467Val)
c.1307G>T (p.Gly436Val)
c.800G>T (p.Gly267Val)
19g.4816936C=CA2319605081TICAM1c.1442G= (p.Gly481=)
c.1025G= (p.Gly342=)
c.1400G= (p.Gly467=)
c.1307G= (p.Gly436=)
c.800G= (p.Gly267=)
19g.4816936C>GCA9105134TICAM1c.1442G>C (p.Gly481Ala)
c.1025G>C (p.Gly342Ala)
c.1400G>C (p.Gly467Ala)
c.1307G>C (p.Gly436Ala)
c.800G>C (p.Gly267Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816936C>TCA403489605TICAM1c.1442G>A (p.Gly481Glu)
c.1025G>A (p.Gly342Glu)
c.1400G>A (p.Gly467Glu)
c.1307G>A (p.Gly436Glu)
c.800G>A (p.Gly267Glu)
19g.4816937C>ACA9105135TICAM1c.1441G>T (p.Gly481Trp)
c.1024G>T (p.Gly342Trp)
c.1399G>T (p.Gly467Trp)
c.1306G>T (p.Gly436Trp)
c.799G>T (p.Gly267Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816937C=CA2319605082TICAM1c.1441G= (p.Gly481=)
c.1024G= (p.Gly342=)
c.1399G= (p.Gly467=)
c.1306G= (p.Gly436=)
c.799G= (p.Gly267=)
19g.4816937C>GCA403489610TICAM1c.1441G>C (p.Gly481Arg)
c.1024G>C (p.Gly342Arg)
c.1399G>C (p.Gly467Arg)
c.1306G>C (p.Gly436Arg)
c.799G>C (p.Gly267Arg)
19g.4816937C>TCA403489608TICAM1c.1441G>A (p.Gly481Arg)
c.1024G>A (p.Gly342Arg)
c.1399G>A (p.Gly467Arg)
c.1306G>A (p.Gly436Arg)
c.799G>A (p.Gly267Arg)
ClinVar dbSNP
19g.4816938C>ACA403489612TICAM1c.1440G>T (p.Gln480His)
c.1023G>T (p.Gln341His)
c.1398G>T (p.Gln466His)
c.1305G>T (p.Gln435His)
c.798G>T (p.Gln266His)
19g.4816938C>GCA403489613TICAM1c.1440G>C (p.Gln480His)
c.1023G>C (p.Gln341His)
c.1398G>C (p.Gln466His)
c.1305G>C (p.Gln435His)
c.798G>C (p.Gln266His)
19g.4816938C>TCA505174406TICAM1c.1440G>A (p.Gln480=)
c.1023G>A (p.Gln341=)
c.1398G>A (p.Gln466=)
c.1305G>A (p.Gln435=)
c.798G>A (p.Gln266=)
gnomAD v4
19g.4816939T>ACA403489616TICAM1c.1439A>T (p.Gln480Leu)
c.1022A>T (p.Gln341Leu)
c.1397A>T (p.Gln466Leu)
c.1304A>T (p.Gln435Leu)
c.797A>T (p.Gln266Leu)
19g.4816939T>CCA403489618TICAM1c.1439A>G (p.Gln480Arg)
c.1022A>G (p.Gln341Arg)
c.1397A>G (p.Gln466Arg)
c.1304A>G (p.Gln435Arg)
c.797A>G (p.Gln266Arg)
19g.4816939T>GCA403489620TICAM1c.1439A>C (p.Gln480Pro)
c.1022A>C (p.Gln341Pro)
c.1397A>C (p.Gln466Pro)
c.1304A>C (p.Gln435Pro)
c.797A>C (p.Gln266Pro)
19g.4816940G>ACA403489622TICAM1c.1438C>T (p.Gln480Ter)
c.1021C>T (p.Gln341Ter)
c.1396C>T (p.Gln466Ter)
c.1303C>T (p.Gln435Ter)
c.796C>T (p.Gln266Ter)
19g.4816940G>CCA403489624TICAM1c.1438C>G (p.Gln480Glu)
c.1021C>G (p.Gln341Glu)
c.1396C>G (p.Gln466Glu)
c.1303C>G (p.Gln435Glu)
c.796C>G (p.Gln266Glu)
gnomAD v4
19g.4816940G>TCA403489626TICAM1c.1438C>A (p.Gln480Lys)
c.1021C>A (p.Gln341Lys)
c.1396C>A (p.Gln466Lys)
c.1303C>A (p.Gln435Lys)
c.796C>A (p.Gln266Lys)
19g.4816941T>ACA505174408TICAM1c.1437A>T (p.Arg479=)
c.1020A>T (p.Arg340=)
c.1395A>T (p.Arg465=)
c.1302A>T (p.Arg434=)
c.795A>T (p.Arg265=)
gnomAD v4
19g.4816941T>CCA505174409TICAM1c.1437A>G (p.Arg479=)
c.1020A>G (p.Arg340=)
c.1395A>G (p.Arg465=)
c.1302A>G (p.Arg434=)
c.795A>G (p.Arg265=)
gnomAD v4
19g.4816941T>GCA9105136TICAM1c.1437A>C (p.Arg479=)
c.1020A>C (p.Arg340=)
c.1395A>C (p.Arg465=)
c.1302A>C (p.Arg434=)
c.795A>C (p.Arg265=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816941T=CA2319605083TICAM1c.1437A= (p.Arg479=)
c.1020A= (p.Arg340=)
c.1395A= (p.Arg465=)
c.1302A= (p.Arg434=)
c.795A= (p.Arg265=)
19g.4816942C>ACA9105137TICAM1c.1436G>T (p.Arg479Leu)
c.1019G>T (p.Arg340Leu)
c.1394G>T (p.Arg465Leu)
c.1301G>T (p.Arg434Leu)
c.794G>T (p.Arg265Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816942C=CA2319605084TICAM1c.1436G= (p.Arg479=)
c.1019G= (p.Arg340=)
c.1394G= (p.Arg465=)
c.1301G= (p.Arg434=)
c.794G= (p.Arg265=)
19g.4816942C>GCA403489630TICAM1c.1436G>C (p.Arg479Pro)
c.1019G>C (p.Arg340Pro)
c.1394G>C (p.Arg465Pro)
c.1301G>C (p.Arg434Pro)
c.794G>C (p.Arg265Pro)
19g.4816942C>TCA9105138TICAM1c.1436G>A (p.Arg479Gln)
c.1019G>A (p.Arg340Gln)
c.1394G>A (p.Arg465Gln)
c.1301G>A (p.Arg434Gln)
c.794G>A (p.Arg265Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816943G>ACA403489633TICAM1c.1435C>T (p.Arg479Ter)
c.1018C>T (p.Arg340Ter)
c.1393C>T (p.Arg465Ter)
c.1300C>T (p.Arg434Ter)
c.793C>T (p.Arg265Ter)
dbSNP COSMIC
19g.4816943G>CCA403489635TICAM1c.1435C>G (p.Arg479Gly)
c.1018C>G (p.Arg340Gly)
c.1393C>G (p.Arg465Gly)
c.1300C>G (p.Arg434Gly)
c.793C>G (p.Arg265Gly)
19g.4816943G=CA2319605085TICAM1c.1435C= (p.Arg479=)
c.1018C= (p.Arg340=)
c.1393C= (p.Arg465=)
c.1300C= (p.Arg434=)
c.793C= (p.Arg265=)
19g.4816943G>TCA505174410TICAM1c.1435C>A (p.Arg479=)
c.1018C>A (p.Arg340=)
c.1393C>A (p.Arg465=)
c.1300C>A (p.Arg434=)
c.793C>A (p.Arg265=)
19g.4816944C>ACA505174412TICAM1c.1434G>T (p.Thr478=)
c.1017G>T (p.Thr339=)
c.1392G>T (p.Thr464=)
c.1299G>T (p.Thr433=)
c.792G>T (p.Thr264=)
19g.4816944C=CA2319605086TICAM1c.1434G= (p.Thr478=)
c.1017G= (p.Thr339=)
c.1392G= (p.Thr464=)
c.1299G= (p.Thr433=)
c.792G= (p.Thr264=)
19g.4816944C>GCA505174411TICAM1c.1434G>C (p.Thr478=)
c.1017G>C (p.Thr339=)
c.1392G>C (p.Thr464=)
c.1299G>C (p.Thr433=)
c.792G>C (p.Thr264=)
19g.4816944C>TCA9105139TICAM1c.1434G>A (p.Thr478=)
c.1017G>A (p.Thr339=)
c.1392G>A (p.Thr464=)
c.1299G>A (p.Thr433=)
c.792G>A (p.Thr264=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816945G>ACA403489638TICAM1c.1433C>T (p.Thr478Met)
c.1016C>T (p.Thr339Met)
c.1391C>T (p.Thr464Met)
c.1298C>T (p.Thr433Met)
c.791C>T (p.Thr264Met)
dbSNP gnomAD v2 gnomAD v4
19g.4816945G>CCA403489640TICAM1c.1433C>G (p.Thr478Arg)
c.1016C>G (p.Thr339Arg)
c.1391C>G (p.Thr464Arg)
c.1298C>G (p.Thr433Arg)
c.791C>G (p.Thr264Arg)
19g.4816945G=CA2319605087TICAM1c.1433C= (p.Thr478=)
c.1016C= (p.Thr339=)
c.1391C= (p.Thr464=)
c.1298C= (p.Thr433=)
c.791C= (p.Thr264=)
19g.4816945G>TCA403489642TICAM1c.1433C>A (p.Thr478Lys)
c.1016C>A (p.Thr339Lys)
c.1391C>A (p.Thr464Lys)
c.1298C>A (p.Thr433Lys)
c.791C>A (p.Thr264Lys)
gnomAD v4
19g.4816946T>ACA403489644TICAM1c.1432A>T (p.Thr478Ser)
c.1015A>T (p.Thr339Ser)
c.1390A>T (p.Thr464Ser)
c.1297A>T (p.Thr433Ser)
c.790A>T (p.Thr264Ser)
19g.4816946T>CCA403489646TICAM1c.1432A>G (p.Thr478Ala)
c.1015A>G (p.Thr339Ala)
c.1390A>G (p.Thr464Ala)
c.1297A>G (p.Thr433Ala)
c.790A>G (p.Thr264Ala)
19g.4816946T>GCA403489648TICAM1c.1432A>C (p.Thr478Pro)
c.1015A>C (p.Thr339Pro)
c.1390A>C (p.Thr464Pro)
c.1297A>C (p.Thr433Pro)
c.790A>C (p.Thr264Pro)
19g.4816947G>ACA9105140TICAM1c.1431C>T (p.Leu477=)
c.1014C>T (p.Leu338=)
c.1389C>T (p.Leu463=)
c.1296C>T (p.Leu432=)
c.789C>T (p.Leu263=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816947G>CCA505174219TICAM1c.1431C>G (p.Leu477=)
c.1014C>G (p.Leu338=)
c.1389C>G (p.Leu463=)
c.1296C>G (p.Leu432=)
c.789C>G (p.Leu263=)
19g.4816947G=CA2319605088TICAM1c.1431C= (p.Leu477=)
c.1014C= (p.Leu338=)
c.1389C= (p.Leu463=)
c.1296C= (p.Leu432=)
c.789C= (p.Leu263=)
19g.4816947G>TCA505174221TICAM1c.1431C>A (p.Leu477=)
c.1014C>A (p.Leu338=)
c.1389C>A (p.Leu463=)
c.1296C>A (p.Leu432=)
c.789C>A (p.Leu263=)
19g.4816948A>CCA403489652TICAM1c.1430T>G (p.Leu477Arg)
c.1013T>G (p.Leu338Arg)
c.1388T>G (p.Leu463Arg)
c.1295T>G (p.Leu432Arg)
c.788T>G (p.Leu263Arg)
19g.4816948A>GCA403489653TICAM1c.1430T>C (p.Leu477Pro)
c.1013T>C (p.Leu338Pro)
c.1388T>C (p.Leu463Pro)
c.1295T>C (p.Leu432Pro)
c.788T>C (p.Leu263Pro)
19g.4816948A>TCA403489655TICAM1c.1430T>A (p.Leu477His)
c.1013T>A (p.Leu338His)
c.1388T>A (p.Leu463His)
c.1295T>A (p.Leu432His)
c.788T>A (p.Leu263His)
19g.4816949G>ACA403489657TICAM1c.1429C>T (p.Leu477Phe)
c.1012C>T (p.Leu338Phe)
c.1387C>T (p.Leu463Phe)
c.1294C>T (p.Leu432Phe)
c.787C>T (p.Leu263Phe)
19g.4816949G>CCA403489659TICAM1c.1429C>G (p.Leu477Val)
c.1012C>G (p.Leu338Val)
c.1387C>G (p.Leu463Val)
c.1294C>G (p.Leu432Val)
c.787C>G (p.Leu263Val)
dbSNP gnomAD v3 gnomAD v4
19g.4816949G=CA2319605089TICAM1c.1429C= (p.Leu477=)
c.1012C= (p.Leu338=)
c.1387C= (p.Leu463=)
c.1294C= (p.Leu432=)
c.787C= (p.Leu263=)
19g.4816949G>TCA403489661TICAM1c.1429C>A (p.Leu477Ile)
c.1012C>A (p.Leu338Ile)
c.1387C>A (p.Leu463Ile)
c.1294C>A (p.Leu432Ile)
c.787C>A (p.Leu263Ile)
dbSNP gnomAD v2
19g.4816950G>ACA9105141TICAM1c.1428C>T (p.Asn476=)
c.1011C>T (p.Asn337=)
c.1386C>T (p.Asn462=)
c.1293C>T (p.Asn431=)
c.786C>T (p.Asn262=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816950G>CCA403489663TICAM1c.1428C>G (p.Asn476Lys)
c.1011C>G (p.Asn337Lys)
c.1386C>G (p.Asn462Lys)
c.1293C>G (p.Asn431Lys)
c.786C>G (p.Asn262Lys)
19g.4816950G=CA2319605090TICAM1c.1428C= (p.Asn476=)
c.1011C= (p.Asn337=)
c.1386C= (p.Asn462=)
c.1293C= (p.Asn431=)
c.786C= (p.Asn262=)
19g.4816950G>TCA304547459TICAM1c.1428C>A (p.Asn476Lys)
c.1011C>A (p.Asn337Lys)
c.1386C>A (p.Asn462Lys)
c.1293C>A (p.Asn431Lys)
c.786C>A (p.Asn262Lys)
dbSNP
19g.4816951T>ACA403489667TICAM1c.1427A>T (p.Asn476Ile)
c.1010A>T (p.Asn337Ile)
c.1385A>T (p.Asn462Ile)
c.1292A>T (p.Asn431Ile)
c.785A>T (p.Asn262Ile)
19g.4816951T>CCA403489669TICAM1c.1427A>G (p.Asn476Ser)
c.1010A>G (p.Asn337Ser)
c.1385A>G (p.Asn462Ser)
c.1292A>G (p.Asn431Ser)
c.785A>G (p.Asn262Ser)
gnomAD v4
19g.4816951T>GCA403489668TICAM1c.1427A>C (p.Asn476Thr)
c.1010A>C (p.Asn337Thr)
c.1385A>C (p.Asn462Thr)
c.1292A>C (p.Asn431Thr)
c.785A>C (p.Asn262Thr)
19g.4816952T>ACA403489671TICAM1c.1426A>T (p.Asn476Tyr)
c.1009A>T (p.Asn337Tyr)
c.1384A>T (p.Asn462Tyr)
c.1291A>T (p.Asn431Tyr)
c.784A>T (p.Asn262Tyr)
19g.4816952T>CCA403489674TICAM1c.1426A>G (p.Asn476Asp)
c.1009A>G (p.Asn337Asp)
c.1384A>G (p.Asn462Asp)
c.1291A>G (p.Asn431Asp)
c.784A>G (p.Asn262Asp)
19g.4816952T>GCA403489673TICAM1c.1426A>C (p.Asn476His)
c.1009A>C (p.Asn337His)
c.1384A>C (p.Asn462His)
c.1291A>C (p.Asn431His)
c.784A>C (p.Asn262His)
19g.4816953G>ACA505174228TICAM1c.1425C>T (p.Ser475=)
c.1008C>T (p.Ser336=)
c.1383C>T (p.Ser461=)
c.1290C>T (p.Ser430=)
c.783C>T (p.Ser261=)
19g.4816953G>CCA403489678TICAM1c.1425C>G (p.Ser475Arg)
c.1008C>G (p.Ser336Arg)
c.1383C>G (p.Ser461Arg)
c.1290C>G (p.Ser430Arg)
c.783C>G (p.Ser261Arg)
19g.4816953G>TCA403489679TICAM1c.1425C>A (p.Ser475Arg)
c.1008C>A (p.Ser336Arg)
c.1383C>A (p.Ser461Arg)
c.1290C>A (p.Ser430Arg)
c.783C>A (p.Ser261Arg)
19g.4816954C>ACA403489681TICAM1c.1424G>T (p.Ser475Ile)
c.1007G>T (p.Ser336Ile)
c.1382G>T (p.Ser461Ile)
c.1289G>T (p.Ser430Ile)
c.782G>T (p.Ser261Ile)
19g.4816954C>GCA403489683TICAM1c.1424G>C (p.Ser475Thr)
c.1007G>C (p.Ser336Thr)
c.1382G>C (p.Ser461Thr)
c.1289G>C (p.Ser430Thr)
c.782G>C (p.Ser261Thr)
19g.4816954C>TCA403489684TICAM1c.1424G>A (p.Ser475Asn)
c.1007G>A (p.Ser336Asn)
c.1382G>A (p.Ser461Asn)
c.1289G>A (p.Ser430Asn)
c.782G>A (p.Ser261Asn)
gnomAD v4
19g.4816955T>ACA403489687TICAM1c.1423A>T (p.Ser475Cys)
c.1006A>T (p.Ser336Cys)
c.1381A>T (p.Ser461Cys)
c.1288A>T (p.Ser430Cys)
c.781A>T (p.Ser261Cys)
19g.4816955T>CCA403489689TICAM1c.1423A>G (p.Ser475Gly)
c.1006A>G (p.Ser336Gly)
c.1381A>G (p.Ser461Gly)
c.1288A>G (p.Ser430Gly)
c.781A>G (p.Ser261Gly)
19g.4816955T>GCA403489691TICAM1c.1423A>C (p.Ser475Arg)
c.1006A>C (p.Ser336Arg)
c.1381A>C (p.Ser461Arg)
c.1288A>C (p.Ser430Arg)
c.781A>C (p.Ser261Arg)
19g.4816956C>ACA403489692TICAM1c.1422G>T (p.Met474Ile)
c.1005G>T (p.Met335Ile)
c.1380G>T (p.Met460Ile)
c.1287G>T (p.Met429Ile)
c.780G>T (p.Met260Ile)
19g.4816956C=CA2319605091TICAM1c.1422G= (p.Met474=)
c.1005G= (p.Met335=)
c.1380G= (p.Met460=)
c.1287G= (p.Met429=)
c.780G= (p.Met260=)
19g.4816956C>GCA403489693TICAM1c.1422G>C (p.Met474Ile)
c.1005G>C (p.Met335Ile)
c.1380G>C (p.Met460Ile)
c.1287G>C (p.Met429Ile)
c.780G>C (p.Met260Ile)
19g.4816956C>TCA9105142TICAM1c.1422G>A (p.Met474Ile)
c.1005G>A (p.Met335Ile)
c.1380G>A (p.Met460Ile)
c.1287G>A (p.Met429Ile)
c.780G>A (p.Met260Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816957A=CA2319605092TICAM1c.1421T= (p.Met474=)
c.1004T= (p.Met335=)
c.1379T= (p.Met460=)
c.1286T= (p.Met429=)
c.779T= (p.Met260=)
19g.4816957A>CCA403489694TICAM1c.1421T>G (p.Met474Arg)
c.1004T>G (p.Met335Arg)
c.1379T>G (p.Met460Arg)
c.1286T>G (p.Met429Arg)
c.779T>G (p.Met260Arg)
ClinVar dbSNP gnomAD v4
19g.4816957A>GCA403489695TICAM1c.1421T>C (p.Met474Thr)
c.1004T>C (p.Met335Thr)
c.1379T>C (p.Met460Thr)
c.1286T>C (p.Met429Thr)
c.779T>C (p.Met260Thr)
dbSNP gnomAD v2 gnomAD v4
19g.4816957A>TCA403489696TICAM1c.1421T>A (p.Met474Lys)
c.1004T>A (p.Met335Lys)
c.1379T>A (p.Met460Lys)
c.1286T>A (p.Met429Lys)
c.779T>A (p.Met260Lys)
19g.4816958T>ACA403489697TICAM1c.1420A>T (p.Met474Leu)
c.1003A>T (p.Met335Leu)
c.1378A>T (p.Met460Leu)
c.1285A>T (p.Met429Leu)
c.778A>T (p.Met260Leu)
19g.4816958T>CCA403489701TICAM1c.1420A>G (p.Met474Val)
c.1003A>G (p.Met335Val)
c.1378A>G (p.Met460Val)
c.1285A>G (p.Met429Val)
c.778A>G (p.Met260Val)
19g.4816958T>GCA403489699TICAM1c.1420A>C (p.Met474Leu)
c.1003A>C (p.Met335Leu)
c.1378A>C (p.Met460Leu)
c.1285A>C (p.Met429Leu)
c.778A>C (p.Met260Leu)
19g.4816959C>ACA403489702TICAM1c.1419G>T (p.Met473Ile)
c.1002G>T (p.Met334Ile)
c.1377G>T (p.Met459Ile)
c.1284G>T (p.Met428Ile)
c.777G>T (p.Met259Ile)
19g.4816959C=CA2319605093TICAM1c.1419G= (p.Met473=)
c.1002G= (p.Met334=)
c.1377G= (p.Met459=)
c.1284G= (p.Met428=)
c.777G= (p.Met259=)
19g.4816959C>GCA403489704TICAM1c.1419G>C (p.Met473Ile)
c.1002G>C (p.Met334Ile)
c.1377G>C (p.Met459Ile)
c.1284G>C (p.Met428Ile)
c.777G>C (p.Met259Ile)
19g.4816959C>TCA9105143TICAM1c.1419G>A (p.Met473Ile)
c.1002G>A (p.Met334Ile)
c.1377G>A (p.Met459Ile)
c.1284G>A (p.Met428Ile)
c.777G>A (p.Met259Ile)
dbSNP ExAC gnomAD v3 gnomAD v4
19g.4816960A>CCA403489708TICAM1c.1418T>G (p.Met473Arg)
c.1001T>G (p.Met334Arg)
c.1376T>G (p.Met459Arg)
c.1283T>G (p.Met428Arg)
c.776T>G (p.Met259Arg)
19g.4816960A>GCA403489709TICAM1c.1418T>C (p.Met473Thr)
c.1001T>C (p.Met334Thr)
c.1376T>C (p.Met459Thr)
c.1283T>C (p.Met428Thr)
c.776T>C (p.Met259Thr)
19g.4816960A>TCA403489710TICAM1c.1418T>A (p.Met473Lys)
c.1001T>A (p.Met334Lys)
c.1376T>A (p.Met459Lys)
c.1283T>A (p.Met428Lys)
c.776T>A (p.Met259Lys)
19g.4816961T>ACA403489711TICAM1c.1417A>T (p.Met473Leu)
c.1000A>T (p.Met334Leu)
c.1375A>T (p.Met459Leu)
c.1282A>T (p.Met428Leu)
c.775A>T (p.Met259Leu)
19g.4816961T>CCA403489713TICAM1c.1417A>G (p.Met473Val)
c.1000A>G (p.Met334Val)
c.1375A>G (p.Met459Val)
c.1282A>G (p.Met428Val)
c.775A>G (p.Met259Val)
dbSNP gnomAD v4
19g.4816961T>GCA403489715TICAM1c.1417A>C (p.Met473Leu)
c.1000A>C (p.Met334Leu)
c.1375A>C (p.Met459Leu)
c.1282A>C (p.Met428Leu)
c.775A>C (p.Met259Leu)
19g.4816961T=CA2319605094TICAM1c.1417A= (p.Met473=)
c.1000A= (p.Met334=)
c.1375A= (p.Met459=)
c.1282A= (p.Met428=)
c.775A= (p.Met259=)
19g.4816962G>ACA505174238TICAM1c.1416C>T (p.Ala472=)
c.999C>T (p.Ala333=)
c.1374C>T (p.Ala458=)
c.1281C>T (p.Ala427=)
c.774C>T (p.Ala258=)
19g.4816962G>CCA505174239TICAM1c.1416C>G (p.Ala472=)
c.999C>G (p.Ala333=)
c.1374C>G (p.Ala458=)
c.1281C>G (p.Ala427=)
c.774C>G (p.Ala258=)
19g.4816962G>TCA505174241TICAM1c.1416C>A (p.Ala472=)
c.999C>A (p.Ala333=)
c.1374C>A (p.Ala458=)
c.1281C>A (p.Ala427=)
c.774C>A (p.Ala258=)
ClinVar
19g.4816963G>ACA403489720TICAM1c.1415C>T (p.Ala472Val)
c.998C>T (p.Ala333Val)
c.1373C>T (p.Ala458Val)
c.1280C>T (p.Ala427Val)
c.773C>T (p.Ala258Val)
19g.4816963G>CCA403489722TICAM1c.1415C>G (p.Ala472Gly)
c.998C>G (p.Ala333Gly)
c.1373C>G (p.Ala458Gly)
c.1280C>G (p.Ala427Gly)
c.773C>G (p.Ala258Gly)
19g.4816963G>TCA403489718TICAM1c.1415C>A (p.Ala472Asp)
c.998C>A (p.Ala333Asp)
c.1373C>A (p.Ala458Asp)
c.1280C>A (p.Ala427Asp)
c.773C>A (p.Ala258Asp)
19g.4816964C>ACA403489725TICAM1c.1414G>T (p.Ala472Ser)
c.997G>T (p.Ala333Ser)
c.1372G>T (p.Ala458Ser)
c.1279G>T (p.Ala427Ser)
c.772G>T (p.Ala258Ser)
19g.4816964C=CA2319605095TICAM1c.1414G= (p.Ala472=)
c.997G= (p.Ala333=)
c.1372G= (p.Ala458=)
c.1279G= (p.Ala427=)
c.772G= (p.Ala258=)
19g.4816964C>GCA403489726TICAM1c.1414G>C (p.Ala472Pro)
c.997G>C (p.Ala333Pro)
c.1372G>C (p.Ala458Pro)
c.1279G>C (p.Ala427Pro)
c.772G>C (p.Ala258Pro)
19g.4816964C>TCA9105144TICAM1c.1414G>A (p.Ala472Thr)
c.997G>A (p.Ala333Thr)
c.1372G>A (p.Ala458Thr)
c.1279G>A (p.Ala427Thr)
c.772G>A (p.Ala258Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4816965T>ACA403489730TICAM1c.1413A>T (p.Gln471His)
c.996A>T (p.Gln332His)
c.1371A>T (p.Gln457His)
c.1278A>T (p.Gln426His)
c.771A>T (p.Gln257His)
19g.4816965T>CCA505174245TICAM1c.1413A>G (p.Gln471=)
c.996A>G (p.Gln332=)
c.1371A>G (p.Gln457=)
c.1278A>G (p.Gln426=)
c.771A>G (p.Gln257=)
19g.4816965T>GCA403489731TICAM1c.1413A>C (p.Gln471His)
c.996A>C (p.Gln332His)
c.1371A>C (p.Gln457His)
c.1278A>C (p.Gln426His)
c.771A>C (p.Gln257His)
19g.4816966T>ACA403489737TICAM1c.1412A>T (p.Gln471Leu)
c.995A>T (p.Gln332Leu)
c.1370A>T (p.Gln457Leu)
c.1277A>T (p.Gln426Leu)
c.770A>T (p.Gln257Leu)
19g.4816966T>CCA403489735TICAM1c.1412A>G (p.Gln471Arg)
c.995A>G (p.Gln332Arg)
c.1370A>G (p.Gln457Arg)
c.1277A>G (p.Gln426Arg)
c.770A>G (p.Gln257Arg)
19g.4816966T>GCA403489736TICAM1c.1412A>C (p.Gln471Pro)
c.995A>C (p.Gln332Pro)
c.1370A>C (p.Gln457Pro)
c.1277A>C (p.Gln426Pro)
c.770A>C (p.Gln257Pro)
19g.4816970_4816978delCA2576579905TICAM1c.1404_1412del (p.Val469_Gln471del)
c.987_995del (p.Val330_Gln332del)
c.1362_1370del (p.Val455_Gln457del)
c.1269_1277del (p.Val424_Gln426del)
c.762_770del (p.Val255_Gln257del)
19g.4816967G>ACA403489740TICAM1c.1411C>T (p.Gln471Ter)
c.994C>T (p.Gln332Ter)
c.1369C>T (p.Gln457Ter)
c.1276C>T (p.Gln426Ter)
c.769C>T (p.Gln257Ter)
19g.4816967G>CCA403489741TICAM1c.1411C>G (p.Gln471Glu)
c.994C>G (p.Gln332Glu)
c.1369C>G (p.Gln457Glu)
c.1276C>G (p.Gln426Glu)
c.769C>G (p.Gln257Glu)
19g.4816967G>TCA403489742TICAM1c.1411C>A (p.Gln471Lys)
c.994C>A (p.Gln332Lys)
c.1369C>A (p.Gln457Lys)
c.1276C>A (p.Gln426Lys)
c.769C>A (p.Gln257Lys)
19g.4816968G>ACA304547468TICAM1c.1410C>T (p.Asn470=)
c.993C>T (p.Asn331=)
c.1368C>T (p.Asn456=)
c.1275C>T (p.Asn425=)
c.768C>T (p.Asn256=)
dbSNP gnomAD v2 gnomAD v4
19g.4816968G>CCA403489745TICAM1c.1410C>G (p.Asn470Lys)
c.993C>G (p.Asn331Lys)
c.1368C>G (p.Asn456Lys)
c.1275C>G (p.Asn425Lys)
c.768C>G (p.Asn256Lys)
ClinVar dbSNP
19g.4816968G=CA2319605096TICAM1c.1410C= (p.Asn470=)
c.993C= (p.Asn331=)
c.1368C= (p.Asn456=)
c.1275C= (p.Asn425=)
c.768C= (p.Asn256=)
19g.4816968G>TCA9105145TICAM1c.1410C>A (p.Asn470Lys)
c.993C>A (p.Asn331Lys)
c.1368C>A (p.Asn456Lys)
c.1275C>A (p.Asn425Lys)
c.768C>A (p.Asn256Lys)
dbSNP ExAC gnomAD v2
19g.4816969T>ACA403489747TICAM1c.1409A>T (p.Asn470Ile)
c.992A>T (p.Asn331Ile)
c.1367A>T (p.Asn456Ile)
c.1274A>T (p.Asn425Ile)
c.767A>T (p.Asn256Ile)
19g.4816969T>CCA403489751TICAM1c.1409A>G (p.Asn470Ser)
c.992A>G (p.Asn331Ser)
c.1367A>G (p.Asn456Ser)
c.1274A>G (p.Asn425Ser)
c.767A>G (p.Asn256Ser)
gnomAD v4
19g.4816969T>GCA403489749TICAM1c.1409A>C (p.Asn470Thr)
c.992A>C (p.Asn331Thr)
c.1367A>C (p.Asn456Thr)
c.1274A>C (p.Asn425Thr)
c.767A>C (p.Asn256Thr)
19g.4816970T>ACA403489752TICAM1c.1408A>T (p.Asn470Tyr)
c.991A>T (p.Asn331Tyr)
c.1366A>T (p.Asn456Tyr)
c.1273A>T (p.Asn425Tyr)
c.766A>T (p.Asn256Tyr)
19g.4816970T>CCA403489753TICAM1c.1408A>G (p.Asn470Asp)
c.991A>G (p.Asn331Asp)
c.1366A>G (p.Asn456Asp)
c.1273A>G (p.Asn425Asp)
c.766A>G (p.Asn256Asp)
19g.4816970T>GCA403489754TICAM1c.1408A>C (p.Asn470His)
c.991A>C (p.Asn331His)
c.1366A>C (p.Asn456His)
c.1273A>C (p.Asn425His)
c.766A>C (p.Asn256His)
19g.4816971C>ACA505174255TICAM1c.1407G>T (p.Val469=)
c.990G>T (p.Val330=)
c.1365G>T (p.Val455=)
c.1272G>T (p.Val424=)
c.765G>T (p.Val255=)
19g.4816971C>GCA505174257TICAM1c.1407G>C (p.Val469=)
c.990G>C (p.Val330=)
c.1365G>C (p.Val455=)
c.1272G>C (p.Val424=)
c.765G>C (p.Val255=)
19g.4816971C>TCA505174256TICAM1c.1407G>A (p.Val469=)
c.990G>A (p.Val330=)
c.1365G>A (p.Val455=)
c.1272G>A (p.Val424=)
c.765G>A (p.Val255=)
19g.4816972A>CCA403489756TICAM1c.1406T>G (p.Val469Gly)
c.989T>G (p.Val330Gly)
c.1364T>G (p.Val455Gly)
c.1271T>G (p.Val424Gly)
c.764T>G (p.Val255Gly)
19g.4816972A>GCA403489757TICAM1c.1406T>C (p.Val469Ala)
c.989T>C (p.Val330Ala)
c.1364T>C (p.Val455Ala)
c.1271T>C (p.Val424Ala)
c.764T>C (p.Val255Ala)
19g.4816972A>TCA403489758TICAM1c.1406T>A (p.Val469Glu)
c.989T>A (p.Val330Glu)
c.1364T>A (p.Val455Glu)
c.1271T>A (p.Val424Glu)
c.764T>A (p.Val255Glu)
19g.4816973C>ACA403489761TICAM1c.1405G>T (p.Val469Leu)
c.988G>T (p.Val330Leu)
c.1363G>T (p.Val455Leu)
c.1270G>T (p.Val424Leu)
c.763G>T (p.Val255Leu)
19g.4816973C=CA2319605097TICAM1c.1405G= (p.Val469=)
c.988G= (p.Val330=)
c.1363G= (p.Val455=)
c.1270G= (p.Val424=)
c.763G= (p.Val255=)
19g.4816973C>GCA403489762TICAM1c.1405G>C (p.Val469Leu)
c.988G>C (p.Val330Leu)
c.1363G>C (p.Val455Leu)
c.1270G>C (p.Val424Leu)
c.763G>C (p.Val255Leu)
19g.4816973C>TCA304547477TICAM1c.1405G>A (p.Val469Met)
c.988G>A (p.Val330Met)
c.1363G>A (p.Val455Met)
c.1270G>A (p.Val424Met)
c.763G>A (p.Val255Met)
dbSNP gnomAD v4
19g.4816974C>ACA403489766TICAM1c.1404G>T (p.Gln468His)
c.987G>T (p.Gln329His)
c.1362G>T (p.Gln454His)
c.1269G>T (p.Gln423His)
c.762G>T (p.Gln254His)
19g.4816974C>GCA403489767TICAM1c.1404G>C (p.Gln468His)
c.987G>C (p.Gln329His)
c.1362G>C (p.Gln454His)
c.1269G>C (p.Gln423His)
c.762G>C (p.Gln254His)
gnomAD v4
19g.4816974C>TCA505174261TICAM1c.1404G>A (p.Gln468=)
c.987G>A (p.Gln329=)
c.1362G>A (p.Gln454=)
c.1269G>A (p.Gln423=)
c.762G>A (p.Gln254=)
19g.4816975T>ACA403489772TICAM1c.1403A>T (p.Gln468Leu)
c.986A>T (p.Gln329Leu)
c.1361A>T (p.Gln454Leu)
c.1268A>T (p.Gln423Leu)
c.761A>T (p.Gln254Leu)
19g.4816975T>CCA403489773TICAM1c.1403A>G (p.Gln468Arg)
c.986A>G (p.Gln329Arg)
c.1361A>G (p.Gln454Arg)
c.1268A>G (p.Gln423Arg)
c.761A>G (p.Gln254Arg)
19g.4816975T>GCA403489770TICAM1c.1403A>C (p.Gln468Pro)
c.986A>C (p.Gln329Pro)
c.1361A>C (p.Gln454Pro)
c.1268A>C (p.Gln423Pro)
c.761A>C (p.Gln254Pro)
19g.4816976G>ACA403489775TICAM1c.1402C>T (p.Gln468Ter)
c.985C>T (p.Gln329Ter)
c.1360C>T (p.Gln454Ter)
c.1267C>T (p.Gln423Ter)
c.760C>T (p.Gln254Ter)
dbSNP
19g.4816976G>CCA403489777TICAM1c.1402C>G (p.Gln468Glu)
c.985C>G (p.Gln329Glu)
c.1360C>G (p.Gln454Glu)
c.1267C>G (p.Gln423Glu)
c.760C>G (p.Gln254Glu)
dbSNP
19g.4816976G=CA2319605098TICAM1c.1402C= (p.Gln468=)
c.985C= (p.Gln329=)
c.1360C= (p.Gln454=)
c.1267C= (p.Gln423=)
c.760C= (p.Gln254=)
19g.4816976G>TCA403489779TICAM1c.1402C>A (p.Gln468Lys)
c.985C>A (p.Gln329Lys)
c.1360C>A (p.Gln454Lys)
c.1267C>A (p.Gln423Lys)
c.760C>A (p.Gln254Lys)
19g.4816977G>ACA505174265TICAM1c.1401C>T (p.His467=)
c.984C>T (p.His328=)
c.1359C>T (p.His453=)
c.1266C>T (p.His422=)
c.759C>T (p.His253=)
19g.4816977G>CCA403489781TICAM1c.1401C>G (p.His467Gln)
c.984C>G (p.His328Gln)
c.1359C>G (p.His453Gln)
c.1266C>G (p.His422Gln)
c.759C>G (p.His253Gln)
19g.4816977G=CA2319605099TICAM1c.1401C= (p.His467=)
c.984C= (p.His328=)
c.1359C= (p.His453=)
c.1266C= (p.His422=)
c.759C= (p.His253=)
19g.4816977G>TCA9105146TICAM1c.1401C>A (p.His467Gln)
c.984C>A (p.His328Gln)
c.1359C>A (p.His453Gln)
c.1266C>A (p.His422Gln)
c.759C>A (p.His253Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816978T>ACA403489785TICAM1c.1400A>T (p.His467Leu)
c.983A>T (p.His328Leu)
c.1358A>T (p.His453Leu)
c.1265A>T (p.His422Leu)
c.758A>T (p.His253Leu)
19g.4816978T>CCA403489786TICAM1c.1400A>G (p.His467Arg)
c.983A>G (p.His328Arg)
c.1358A>G (p.His453Arg)
c.1265A>G (p.His422Arg)
c.758A>G (p.His253Arg)
19g.4816978T>GCA403489787TICAM1c.1400A>C (p.His467Pro)
c.983A>C (p.His328Pro)
c.1358A>C (p.His453Pro)
c.1265A>C (p.His422Pro)
c.758A>C (p.His253Pro)
dbSNP
19g.4816978T=CA2319605100TICAM1c.1400A= (p.His467=)
c.983A= (p.His328=)
c.1358A= (p.His453=)
c.1265A= (p.His422=)
c.758A= (p.His253=)
19g.4816979G>ACA403489789TICAM1c.1399C>T (p.His467Tyr)
c.982C>T (p.His328Tyr)
c.1357C>T (p.His453Tyr)
c.1264C>T (p.His422Tyr)
c.757C>T (p.His253Tyr)
dbSNP gnomAD v2 gnomAD v4
19g.4816979G>CCA403489791TICAM1c.1399C>G (p.His467Asp)
c.982C>G (p.His328Asp)
c.1357C>G (p.His453Asp)
c.1264C>G (p.His422Asp)
c.757C>G (p.His253Asp)
19g.4816979G=CA2319605101TICAM1c.1399C= (p.His467=)
c.982C= (p.His328=)
c.1357C= (p.His453=)
c.1264C= (p.His422=)
c.757C= (p.His253=)
19g.4816979G>TCA403489792TICAM1c.1399C>A (p.His467Asn)
c.982C>A (p.His328Asn)
c.1357C>A (p.His453Asn)
c.1264C>A (p.His422Asn)
c.757C>A (p.His253Asn)
19g.4816980C>ACA505174270TICAM1c.1398G>T (p.Leu466=)
c.981G>T (p.Leu327=)
c.1356G>T (p.Leu452=)
c.1263G>T (p.Leu421=)
c.756G>T (p.Leu252=)
dbSNP
19g.4816980C=CA2319605102TICAM1c.1398G= (p.Leu466=)
c.981G= (p.Leu327=)
c.1356G= (p.Leu452=)
c.1263G= (p.Leu421=)
c.756G= (p.Leu252=)
19g.4816980C>GCA505174271TICAM1c.1398G>C (p.Leu466=)
c.981G>C (p.Leu327=)
c.1356G>C (p.Leu452=)
c.1263G>C (p.Leu421=)
c.756G>C (p.Leu252=)
gnomAD v4
19g.4816980C>TCA505174272TICAM1c.1398G>A (p.Leu466=)
c.981G>A (p.Leu327=)
c.1356G>A (p.Leu452=)
c.1263G>A (p.Leu421=)
c.756G>A (p.Leu252=)
19g.4816981A>CCA403489794TICAM1c.1397T>G (p.Leu466Arg)
c.980T>G (p.Leu327Arg)
c.1355T>G (p.Leu452Arg)
c.1262T>G (p.Leu421Arg)
c.755T>G (p.Leu252Arg)
19g.4816981A>GCA403489796TICAM1c.1397T>C (p.Leu466Pro)
c.980T>C (p.Leu327Pro)
c.1355T>C (p.Leu452Pro)
c.1262T>C (p.Leu421Pro)
c.755T>C (p.Leu252Pro)
19g.4816981A>TCA403489798TICAM1c.1397T>A (p.Leu466Gln)
c.980T>A (p.Leu327Gln)
c.1355T>A (p.Leu452Gln)
c.1262T>A (p.Leu421Gln)
c.755T>A (p.Leu252Gln)
19g.4816982G>ACA505174274TICAM1c.1396C>T (p.Leu466=)
c.979C>T (p.Leu327=)
c.1354C>T (p.Leu452=)
c.1261C>T (p.Leu421=)
c.754C>T (p.Leu252=)
gnomAD v4
19g.4816982G>CCA403489801TICAM1c.1396C>G (p.Leu466Val)
c.979C>G (p.Leu327Val)
c.1354C>G (p.Leu452Val)
c.1261C>G (p.Leu421Val)
c.754C>G (p.Leu252Val)
19g.4816982G>TCA403489802TICAM1c.1396C>A (p.Leu466Met)
c.979C>A (p.Leu327Met)
c.1354C>A (p.Leu452Met)
c.1261C>A (p.Leu421Met)
c.754C>A (p.Leu252Met)
19g.4816983G>ACA505174276TICAM1c.1395C>T (p.Ser465=)
c.978C>T (p.Ser326=)
c.1353C>T (p.Ser451=)
c.1260C>T (p.Ser420=)
c.753C>T (p.Ser251=)
19g.4816983G>CCA403489804TICAM1c.1395C>G (p.Ser465Arg)
c.978C>G (p.Ser326Arg)
c.1353C>G (p.Ser451Arg)
c.1260C>G (p.Ser420Arg)
c.753C>G (p.Ser251Arg)
gnomAD v4
19g.4816983G>TCA403489806TICAM1c.1395C>A (p.Ser465Arg)
c.978C>A (p.Ser326Arg)
c.1353C>A (p.Ser451Arg)
c.1260C>A (p.Ser420Arg)
c.753C>A (p.Ser251Arg)
19g.4816984C>ACA403489807TICAM1c.1394G>T (p.Ser465Ile)
c.977G>T (p.Ser326Ile)
c.1352G>T (p.Ser451Ile)
c.1259G>T (p.Ser420Ile)
c.752G>T (p.Ser251Ile)
19g.4816984C>GCA403489808TICAM1c.1394G>C (p.Ser465Thr)
c.977G>C (p.Ser326Thr)
c.1352G>C (p.Ser451Thr)
c.1259G>C (p.Ser420Thr)
c.752G>C (p.Ser251Thr)
19g.4816984C>TCA403489809TICAM1c.1394G>A (p.Ser465Asn)
c.977G>A (p.Ser326Asn)
c.1352G>A (p.Ser451Asn)
c.1259G>A (p.Ser420Asn)
c.752G>A (p.Ser251Asn)
19g.4816985T>ACA403489811TICAM1c.1393A>T (p.Ser465Cys)
c.976A>T (p.Ser326Cys)
c.1351A>T (p.Ser451Cys)
c.1258A>T (p.Ser420Cys)
c.751A>T (p.Ser251Cys)
19g.4816985T>CCA403489813TICAM1c.1393A>G (p.Ser465Gly)
c.976A>G (p.Ser326Gly)
c.1351A>G (p.Ser451Gly)
c.1258A>G (p.Ser420Gly)
c.751A>G (p.Ser251Gly)
19g.4816985T>GCA403489814TICAM1c.1393A>C (p.Ser465Arg)
c.976A>C (p.Ser326Arg)
c.1351A>C (p.Ser451Arg)
c.1258A>C (p.Ser420Arg)
c.751A>C (p.Ser251Arg)
19g.4816986C>ACA505174279TICAM1c.1392G>T (p.Leu464=)
c.975G>T (p.Leu325=)
c.1350G>T (p.Leu450=)
c.1257G>T (p.Leu419=)
c.750G>T (p.Leu250=)
19g.4816986C>GCA505174278TICAM1c.1392G>C (p.Leu464=)
c.975G>C (p.Leu325=)
c.1350G>C (p.Leu450=)
c.1257G>C (p.Leu419=)
c.750G>C (p.Leu250=)
19g.4816986C>TCA505174277TICAM1c.1392G>A (p.Leu464=)
c.975G>A (p.Leu325=)
c.1350G>A (p.Leu450=)
c.1257G>A (p.Leu419=)
c.750G>A (p.Leu250=)
19g.4816987A>CCA403489817TICAM1c.1391T>G (p.Leu464Arg)
c.974T>G (p.Leu325Arg)
c.1349T>G (p.Leu450Arg)
c.1256T>G (p.Leu419Arg)
c.749T>G (p.Leu250Arg)
19g.4816987A>GCA403489819TICAM1c.1391T>C (p.Leu464Pro)
c.974T>C (p.Leu325Pro)
c.1349T>C (p.Leu450Pro)
c.1256T>C (p.Leu419Pro)
c.749T>C (p.Leu250Pro)
gnomAD v4
19g.4816987A>TCA403489820TICAM1c.1391T>A (p.Leu464Gln)
c.974T>A (p.Leu325Gln)
c.1349T>A (p.Leu450Gln)
c.1256T>A (p.Leu419Gln)
c.749T>A (p.Leu250Gln)
19g.4816988G>ACA505174280TICAM1c.1390C>T (p.Leu464=)
c.973C>T (p.Leu325=)
c.1348C>T (p.Leu450=)
c.1255C>T (p.Leu419=)
c.748C>T (p.Leu250=)
19g.4816988G>CCA403489821TICAM1c.1390C>G (p.Leu464Val)
c.973C>G (p.Leu325Val)
c.1348C>G (p.Leu450Val)
c.1255C>G (p.Leu419Val)
c.748C>G (p.Leu250Val)
gnomAD v4
19g.4816988G>TCA403489823TICAM1c.1390C>A (p.Leu464Met)
c.973C>A (p.Leu325Met)
c.1348C>A (p.Leu450Met)
c.1255C>A (p.Leu419Met)
c.748C>A (p.Leu250Met)
19g.4816989G>ACA505174281TICAM1c.1389C>T (p.Arg463=)
c.972C>T (p.Arg324=)
c.1347C>T (p.Arg449=)
c.1254C>T (p.Arg418=)
c.747C>T (p.Arg249=)
gnomAD v4
19g.4816989G>CCA505174282TICAM1c.1389C>G (p.Arg463=)
c.972C>G (p.Arg324=)
c.1347C>G (p.Arg449=)
c.1254C>G (p.Arg418=)
c.747C>G (p.Arg249=)
19g.4816989G>TCA505174284TICAM1c.1389C>A (p.Arg463=)
c.972C>A (p.Arg324=)
c.1347C>A (p.Arg449=)
c.1254C>A (p.Arg418=)
c.747C>A (p.Arg249=)
19g.4816990C>ACA403489825TICAM1c.1388G>T (p.Arg463Leu)
c.971G>T (p.Arg324Leu)
c.1346G>T (p.Arg449Leu)
c.1253G>T (p.Arg418Leu)
c.746G>T (p.Arg249Leu)
19g.4816990C=CA2319605103TICAM1c.1388G= (p.Arg463=)
c.971G= (p.Arg324=)
c.1346G= (p.Arg449=)
c.1253G= (p.Arg418=)
c.746G= (p.Arg249=)
19g.4816990C>GCA403489829TICAM1c.1388G>C (p.Arg463Pro)
c.971G>C (p.Arg324Pro)
c.1346G>C (p.Arg449Pro)
c.1253G>C (p.Arg418Pro)
c.746G>C (p.Arg249Pro)
19g.4816990C>TCA403489827TICAM1c.1388G>A (p.Arg463His)
c.971G>A (p.Arg324His)
c.1346G>A (p.Arg449His)
c.1253G>A (p.Arg418His)
c.746G>A (p.Arg249His)
ClinVar dbSNP gnomAD v4 COSMIC
19g.4816991G>ACA403489831TICAM1c.1387C>T (p.Arg463Cys)
c.970C>T (p.Arg324Cys)
c.1345C>T (p.Arg449Cys)
c.1252C>T (p.Arg418Cys)
c.745C>T (p.Arg249Cys)
dbSNP
19g.4816991G>CCA403489833TICAM1c.1387C>G (p.Arg463Gly)
c.970C>G (p.Arg324Gly)
c.1345C>G (p.Arg449Gly)
c.1252C>G (p.Arg418Gly)
c.745C>G (p.Arg249Gly)
dbSNP
19g.4816991G=CA2319605104TICAM1c.1387C= (p.Arg463=)
c.970C= (p.Arg324=)
c.1345C= (p.Arg449=)
c.1252C= (p.Arg418=)
c.745C= (p.Arg249=)
19g.4816991G>TCA403489835TICAM1c.1387C>A (p.Arg463Ser)
c.970C>A (p.Arg324Ser)
c.1345C>A (p.Arg449Ser)
c.1252C>A (p.Arg418Ser)
c.745C>A (p.Arg249Ser)
19g.4816992A>CCA403489837TICAM1c.1386T>G (p.Cys462Trp)
c.969T>G (p.Cys323Trp)
c.1344T>G (p.Cys448Trp)
c.1251T>G (p.Cys417Trp)
c.744T>G (p.Cys248Trp)
19g.4816992A>GCA505174289TICAM1c.1386T>C (p.Cys462=)
c.969T>C (p.Cys323=)
c.1344T>C (p.Cys448=)
c.1251T>C (p.Cys417=)
c.744T>C (p.Cys248=)
19g.4816992A>TCA403489839TICAM1c.1386T>A (p.Cys462Ter)
c.969T>A (p.Cys323Ter)
c.1344T>A (p.Cys448Ter)
c.1251T>A (p.Cys417Ter)
c.744T>A (p.Cys248Ter)
19g.4816993C>ACA403489845TICAM1c.1385G>T (p.Cys462Phe)
c.968G>T (p.Cys323Phe)
c.1343G>T (p.Cys448Phe)
c.1250G>T (p.Cys417Phe)
c.743G>T (p.Cys248Phe)
19g.4816993C>GCA403489843TICAM1c.1385G>C (p.Cys462Ser)
c.968G>C (p.Cys323Ser)
c.1343G>C (p.Cys448Ser)
c.1250G>C (p.Cys417Ser)
c.743G>C (p.Cys248Ser)
19g.4816993C>TCA403489842TICAM1c.1385G>A (p.Cys462Tyr)
c.968G>A (p.Cys323Tyr)
c.1343G>A (p.Cys448Tyr)
c.1250G>A (p.Cys417Tyr)
c.743G>A (p.Cys248Tyr)
19g.4816994A=CA2319605105TICAM1c.1384T= (p.Cys462=)
c.967T= (p.Cys323=)
c.1342T= (p.Cys448=)
c.1249T= (p.Cys417=)
c.742T= (p.Cys248=)
19g.4816994A>CCA403489848TICAM1c.1384T>G (p.Cys462Gly)
c.967T>G (p.Cys323Gly)
c.1342T>G (p.Cys448Gly)
c.1249T>G (p.Cys417Gly)
c.742T>G (p.Cys248Gly)
19g.4816994A>GCA403489850TICAM1c.1384T>C (p.Cys462Arg)
c.967T>C (p.Cys323Arg)
c.1342T>C (p.Cys448Arg)
c.1249T>C (p.Cys417Arg)
c.742T>C (p.Cys248Arg)
dbSNP gnomAD v2 gnomAD v4
19g.4816994A>TCA403489852TICAM1c.1384T>A (p.Cys462Ser)
c.967T>A (p.Cys323Ser)
c.1342T>A (p.Cys448Ser)
c.1249T>A (p.Cys417Ser)
c.742T>A (p.Cys248Ser)
19g.4816994_4817001delinsAGTCGAAGCA2319605106TICAM1c.1377_1384delinsCTTCGACT (p.Asn459=)
c.960_967delinsCTTCGACT (p.Asn320=)
c.1335_1342delinsCTTCGACT (p.Asn445=)
c.1242_1249delinsCTTCGACT (p.Asn414=)
c.735_742delinsCTTCGACT (p.Asn245=)
19g.4816995G>ACA505174293TICAM1c.1383C>T (p.Asp461=)
c.966C>T (p.Asp322=)
c.1341C>T (p.Asp447=)
c.1248C>T (p.Asp416=)
c.741C>T (p.Asp247=)
19g.4816995G>CCA403489855TICAM1c.1383C>G (p.Asp461Glu)
c.966C>G (p.Asp322Glu)
c.1341C>G (p.Asp447Glu)
c.1248C>G (p.Asp416Glu)
c.741C>G (p.Asp247Glu)
19g.4816995G>TCA403489856TICAM1c.1383C>A (p.Asp461Glu)
c.966C>A (p.Asp322Glu)
c.1341C>A (p.Asp447Glu)
c.1248C>A (p.Asp416Glu)
c.741C>A (p.Asp247Glu)
19g.4816995_4817001delCA9105147TICAM1c.1377_1383del (p.Phe460ValfsTer3)
c.960_966del (p.Phe321ValfsTer3)
c.1335_1341del (p.Phe446ValfsTer3)
c.1242_1248del (p.Phe415ValfsTer3)
c.735_741del (p.Phe246ValfsTer3)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.4816996T>ACA403489859TICAM1c.1382A>T (p.Asp461Val)
c.965A>T (p.Asp322Val)
c.1340A>T (p.Asp447Val)
c.1247A>T (p.Asp416Val)
c.740A>T (p.Asp247Val)
19g.4816996T>CCA403489865TICAM1c.1382A>G (p.Asp461Gly)
c.965A>G (p.Asp322Gly)
c.1340A>G (p.Asp447Gly)
c.1247A>G (p.Asp416Gly)
c.740A>G (p.Asp247Gly)
19g.4816996T>GCA403489861TICAM1c.1382A>C (p.Asp461Ala)
c.965A>C (p.Asp322Ala)
c.1340A>C (p.Asp447Ala)
c.1247A>C (p.Asp416Ala)
c.740A>C (p.Asp247Ala)
gnomAD v4
19g.4816997C>ACA403489868TICAM1c.1381G>T (p.Asp461Tyr)
c.964G>T (p.Asp322Tyr)
c.1339G>T (p.Asp447Tyr)
c.1246G>T (p.Asp416Tyr)
c.739G>T (p.Asp247Tyr)
19g.4816997C=CA2319605107TICAM1c.1381G= (p.Asp461=)
c.964G= (p.Asp322=)
c.1339G= (p.Asp447=)
c.1246G= (p.Asp416=)
c.739G= (p.Asp247=)
19g.4816997C>GCA403489869TICAM1c.1381G>C (p.Asp461His)
c.964G>C (p.Asp322His)
c.1339G>C (p.Asp447His)
c.1246G>C (p.Asp416His)
c.739G>C (p.Asp247His)
COSMIC
19g.4816997C>TCA403489871TICAM1c.1381G>A (p.Asp461Asn)
c.964G>A (p.Asp322Asn)
c.1339G>A (p.Asp447Asn)
c.1246G>A (p.Asp416Asn)
c.739G>A (p.Asp247Asn)
dbSNP gnomAD v2 gnomAD v4
19g.4816998G>ACA505174301TICAM1c.1380C>T (p.Phe460=)
c.963C>T (p.Phe321=)
c.1338C>T (p.Phe446=)
c.1245C>T (p.Phe415=)
c.738C>T (p.Phe246=)
dbSNP COSMIC
19g.4816998G>CCA403489873TICAM1c.1380C>G (p.Phe460Leu)
c.963C>G (p.Phe321Leu)
c.1338C>G (p.Phe446Leu)
c.1245C>G (p.Phe415Leu)
c.738C>G (p.Phe246Leu)
19g.4816998G=CA2319605108TICAM1c.1380C= (p.Phe460=)
c.963C= (p.Phe321=)
c.1338C= (p.Phe446=)
c.1245C= (p.Phe415=)
c.738C= (p.Phe246=)
19g.4816998G>TCA304547500TICAM1c.1380C>A (p.Phe460Leu)
c.963C>A (p.Phe321Leu)
c.1338C>A (p.Phe446Leu)
c.1245C>A (p.Phe415Leu)
c.738C>A (p.Phe246Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.4816999A>CCA403489877TICAM1c.1379T>G (p.Phe460Cys)
c.962T>G (p.Phe321Cys)
c.1337T>G (p.Phe446Cys)
c.1244T>G (p.Phe415Cys)
c.737T>G (p.Phe246Cys)
gnomAD v4
19g.4816999A>GCA403489879TICAM1c.1379T>C (p.Phe460Ser)
c.962T>C (p.Phe321Ser)
c.1337T>C (p.Phe446Ser)
c.1244T>C (p.Phe415Ser)
c.737T>C (p.Phe246Ser)
19g.4816999A>TCA403489880TICAM1c.1379T>A (p.Phe460Tyr)
c.962T>A (p.Phe321Tyr)
c.1337T>A (p.Phe446Tyr)
c.1244T>A (p.Phe415Tyr)
c.737T>A (p.Phe246Tyr)
19g.4817000dupCA2586031839TICAM1c.1379dup (p.Asp461ArgfsTer?)
c.962dup (p.Asp322ArgfsTer?)
c.1337dup (p.Asp447ArgfsTer?)
c.1244dup (p.Asp416ArgfsTer?)
c.737dup (p.Asp247ArgfsTer?)
gnomAD v4
19g.4817000A>CCA403489883TICAM1c.1378T>G (p.Phe460Val)
c.961T>G (p.Phe321Val)
c.1336T>G (p.Phe446Val)
c.1243T>G (p.Phe415Val)
c.736T>G (p.Phe246Val)
19g.4817000A>GCA403489885TICAM1c.1378T>C (p.Phe460Leu)
c.961T>C (p.Phe321Leu)
c.1336T>C (p.Phe446Leu)
c.1243T>C (p.Phe415Leu)
c.736T>C (p.Phe246Leu)
19g.4817000A>TCA403489886TICAM1c.1378T>A (p.Phe460Ile)
c.961T>A (p.Phe321Ile)
c.1336T>A (p.Phe446Ile)
c.1243T>A (p.Phe415Ile)
c.736T>A (p.Phe246Ile)
19g.4817001G>ACA505174304TICAM1c.1377C>T (p.Asn459=)
c.960C>T (p.Asn320=)
c.1335C>T (p.Asn445=)
c.1242C>T (p.Asn414=)
c.735C>T (p.Asn245=)
19g.4817001G>CCA403489888TICAM1c.1377C>G (p.Asn459Lys)
c.960C>G (p.Asn320Lys)
c.1335C>G (p.Asn445Lys)
c.1242C>G (p.Asn414Lys)
c.735C>G (p.Asn245Lys)
19g.4817001G>TCA403489889TICAM1c.1377C>A (p.Asn459Lys)
c.960C>A (p.Asn320Lys)
c.1335C>A (p.Asn445Lys)
c.1242C>A (p.Asn414Lys)
c.735C>A (p.Asn245Lys)
19g.4817002T>ACA403489891TICAM1c.1376A>T (p.Asn459Ile)
c.959A>T (p.Asn320Ile)
c.1334A>T (p.Asn445Ile)
c.1241A>T (p.Asn414Ile)
c.734A>T (p.Asn245Ile)
19g.4817002T>CCA9105148TICAM1c.1376A>G (p.Asn459Ser)
c.959A>G (p.Asn320Ser)
c.1334A>G (p.Asn445Ser)
c.1241A>G (p.Asn414Ser)
c.734A>G (p.Asn245Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4817002T>GCA403489893TICAM1c.1376A>C (p.Asn459Thr)
c.959A>C (p.Asn320Thr)
c.1334A>C (p.Asn445Thr)
c.1241A>C (p.Asn414Thr)
c.734A>C (p.Asn245Thr)
gnomAD v4
19g.4817002T=CA2319605109TICAM1c.1376A= (p.Asn459=)
c.959A= (p.Asn320=)
c.1334A= (p.Asn445=)
c.1241A= (p.Asn414=)
c.734A= (p.Asn245=)
19g.4817003T>ACA403489897TICAM1c.1375A>T (p.Asn459Tyr)
c.958A>T (p.Asn320Tyr)
c.1333A>T (p.Asn445Tyr)
c.1240A>T (p.Asn414Tyr)
c.733A>T (p.Asn245Tyr)
19g.4817003T>CCA403489900TICAM1c.1375A>G (p.Asn459Asp)
c.958A>G (p.Asn320Asp)
c.1333A>G (p.Asn445Asp)
c.1240A>G (p.Asn414Asp)
c.733A>G (p.Asn245Asp)
19g.4817003T>GCA403489899TICAM1c.1375A>C (p.Asn459His)
c.958A>C (p.Asn320His)
c.1333A>C (p.Asn445His)
c.1240A>C (p.Asn414His)
c.733A>C (p.Asn245His)
19g.4817004G>ACA505174310TICAM1c.1374C>T (p.Ser458=)
c.957C>T (p.Ser319=)
c.1332C>T (p.Ser444=)
c.1239C>T (p.Ser413=)
c.732C>T (p.Ser244=)
19g.4817004G>CCA505174311TICAM1c.1374C>G (p.Ser458=)
c.957C>G (p.Ser319=)
c.1332C>G (p.Ser444=)
c.1239C>G (p.Ser413=)
c.732C>G (p.Ser244=)
19g.4817004G>TCA505174312TICAM1c.1374C>A (p.Ser458=)
c.957C>A (p.Ser319=)
c.1332C>A (p.Ser444=)
c.1239C>A (p.Ser413=)
c.732C>A (p.Ser244=)
19g.4817005G>ACA403489903TICAM1c.1373C>T (p.Ser458Phe)
c.956C>T (p.Ser319Phe)
c.1331C>T (p.Ser444Phe)
c.1238C>T (p.Ser413Phe)
c.731C>T (p.Ser244Phe)
19g.4817005G>CCA403489904TICAM1c.1373C>G (p.Ser458Cys)
c.956C>G (p.Ser319Cys)
c.1331C>G (p.Ser444Cys)
c.1238C>G (p.Ser413Cys)
c.731C>G (p.Ser244Cys)
19g.4817005G>TCA403489906TICAM1c.1373C>A (p.Ser458Tyr)
c.956C>A (p.Ser319Tyr)
c.1331C>A (p.Ser444Tyr)
c.1238C>A (p.Ser413Tyr)
c.731C>A (p.Ser244Tyr)
19g.4817006A>CCA403489909TICAM1c.1372T>G (p.Ser458Ala)
c.955T>G (p.Ser319Ala)
c.1330T>G (p.Ser444Ala)
c.1237T>G (p.Ser413Ala)
c.730T>G (p.Ser244Ala)
19g.4817006A>GCA403489910TICAM1c.1372T>C (p.Ser458Pro)
c.955T>C (p.Ser319Pro)
c.1330T>C (p.Ser444Pro)
c.1237T>C (p.Ser413Pro)
c.730T>C (p.Ser244Pro)
19g.4817006A>TCA403489912TICAM1c.1372T>A (p.Ser458Thr)
c.955T>A (p.Ser319Thr)
c.1330T>A (p.Ser444Thr)
c.1237T>A (p.Ser413Thr)
c.730T>A (p.Ser244Thr)
19g.4817007G>ACA505174316TICAM1c.1371C>T (p.Thr457=)
c.954C>T (p.Thr318=)
c.1329C>T (p.Thr443=)
c.1236C>T (p.Thr412=)
c.729C>T (p.Thr243=)
19g.4817007G>CCA505174317TICAM1c.1371C>G (p.Thr457=)
c.954C>G (p.Thr318=)
c.1329C>G (p.Thr443=)
c.1236C>G (p.Thr412=)
c.729C>G (p.Thr243=)
19g.4817007G>TCA505174318TICAM1c.1371C>A (p.Thr457=)
c.954C>A (p.Thr318=)
c.1329C>A (p.Thr443=)
c.1236C>A (p.Thr412=)
c.729C>A (p.Thr243=)
19g.4817008G>ACA403489915TICAM1c.1370C>T (p.Thr457Ile)
c.953C>T (p.Thr318Ile)
c.1328C>T (p.Thr443Ile)
c.1235C>T (p.Thr412Ile)
c.728C>T (p.Thr243Ile)
19g.4817008G>CCA403489916TICAM1c.1370C>G (p.Thr457Ser)
c.953C>G (p.Thr318Ser)
c.1328C>G (p.Thr443Ser)
c.1235C>G (p.Thr412Ser)
c.728C>G (p.Thr243Ser)
19g.4817008G>TCA403489918TICAM1c.1370C>A (p.Thr457Asn)
c.953C>A (p.Thr318Asn)
c.1328C>A (p.Thr443Asn)
c.1235C>A (p.Thr412Asn)
c.728C>A (p.Thr243Asn)
19g.4817009T>ACA403489920TICAM1c.1369A>T (p.Thr457Ser)
c.952A>T (p.Thr318Ser)
c.1327A>T (p.Thr443Ser)
c.1234A>T (p.Thr412Ser)
c.727A>T (p.Thr243Ser)
19g.4817009T>CCA403489923TICAM1c.1369A>G (p.Thr457Ala)
c.952A>G (p.Thr318Ala)
c.1327A>G (p.Thr443Ala)
c.1234A>G (p.Thr412Ala)
c.727A>G (p.Thr243Ala)
19g.4817009T>GCA403489924TICAM1c.1369A>C (p.Thr457Pro)
c.952A>C (p.Thr318Pro)
c.1327A>C (p.Thr443Pro)
c.1234A>C (p.Thr412Pro)
c.727A>C (p.Thr243Pro)
dbSNP
19g.4817009T=CA2319605110TICAM1c.1369A= (p.Thr457=)
c.952A= (p.Thr318=)
c.1327A= (p.Thr443=)
c.1234A= (p.Thr412=)
c.727A= (p.Thr243=)
19g.4817010G>ACA9105149TICAM1c.1368C>T (p.Leu456=)
c.951C>T (p.Leu317=)
c.1326C>T (p.Leu442=)
c.1233C>T (p.Leu411=)
c.726C>T (p.Leu242=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.4817010G>CCA505174323TICAM1c.1368C>G (p.Leu456=)
c.951C>G (p.Leu317=)
c.1326C>G (p.Leu442=)
c.1233C>G (p.Leu411=)
c.726C>G (p.Leu242=)
19g.4817010G=CA2319605111TICAM1c.1368C= (p.Leu456=)
c.951C= (p.Leu317=)
c.1326C= (p.Leu442=)
c.1233C= (p.Leu411=)
c.726C= (p.Leu242=)
19g.4817010G>TCA505174325TICAM1c.1368C>A (p.Leu456=)
c.951C>A (p.Leu317=)
c.1326C>A (p.Leu442=)
c.1233C>A (p.Leu411=)
c.726C>A (p.Leu242=)
19g.4817011A>CCA403489928TICAM1c.1367T>G (p.Leu456Arg)
c.950T>G (p.Leu317Arg)
c.1325T>G (p.Leu442Arg)
c.1232T>G (p.Leu411Arg)
c.725T>G (p.Leu242Arg)
19g.4817011A>GCA403489931TICAM1c.1367T>C (p.Leu456Pro)
c.950T>C (p.Leu317Pro)
c.1325T>C (p.Leu442Pro)
c.1232T>C (p.Leu411Pro)
c.725T>C (p.Leu242Pro)
19g.4817011A>TCA403489930TICAM1c.1367T>A (p.Leu456His)
c.950T>A (p.Leu317His)
c.1325T>A (p.Leu442His)
c.1232T>A (p.Leu411His)
c.725T>A (p.Leu242His)
19g.4817012G>ACA403489934TICAM1c.1366C>T (p.Leu456Phe)
c.949C>T (p.Leu317Phe)
c.1324C>T (p.Leu442Phe)
c.1231C>T (p.Leu411Phe)
c.724C>T (p.Leu242Phe)
gnomAD v4
19g.4817012G>CCA403489936TICAM1c.1366C>G (p.Leu456Val)
c.949C>G (p.Leu317Val)
c.1324C>G (p.Leu442Val)
c.1231C>G (p.Leu411Val)
c.724C>G (p.Leu242Val)
gnomAD v4
19g.4817012G>TCA403489937TICAM1c.1366C>A (p.Leu456Ile)
c.949C>A (p.Leu317Ile)
c.1324C>A (p.Leu442Ile)
c.1231C>A (p.Leu411Ile)
c.724C>A (p.Leu242Ile)
19g.4817013A>CCA505174327TICAM1c.1365T>G (p.Leu455=)
c.948T>G (p.Leu316=)
c.1323T>G (p.Leu441=)
c.1230T>G (p.Leu410=)
c.723T>G (p.Leu241=)
19g.4817013A>GCA505174328TICAM1c.1365T>C (p.Leu455=)
c.948T>C (p.Leu316=)
c.1323T>C (p.Leu441=)
c.1230T>C (p.Leu410=)
c.723T>C (p.Leu241=)
gnomAD v4
19g.4817013A>TCA505174329TICAM1c.1365T>A (p.Leu455=)
c.948T>A (p.Leu316=)
c.1323T>A (p.Leu441=)
c.1230T>A (p.Leu410=)
c.723T>A (p.Leu241=)
19g.4817014A>CCA403489940TICAM1c.1364T>G (p.Leu455Arg)
c.947T>G (p.Leu316Arg)
c.1322T>G (p.Leu441Arg)
c.1229T>G (p.Leu410Arg)
c.722T>G (p.Leu241Arg)
19g.4817014A>GCA403489942TICAM1c.1364T>C (p.Leu455Pro)
c.947T>C (p.Leu316Pro)
c.1322T>C (p.Leu441Pro)
c.1229T>C (p.Leu410Pro)
c.722T>C (p.Leu241Pro)
19g.4817014A>TCA403489943TICAM1c.1364T>A (p.Leu455His)
c.947T>A (p.Leu316His)
c.1322T>A (p.Leu441His)
c.1229T>A (p.Leu410His)
c.722T>A (p.Leu241His)
19g.4817015G>ACA403489946TICAM1c.1363C>T (p.Leu455Phe)
c.946C>T (p.Leu316Phe)
c.1321C>T (p.Leu441Phe)
c.1228C>T (p.Leu410Phe)
c.721C>T (p.Leu241Phe)
dbSNP gnomAD v3 gnomAD v4
19g.4817015G>CCA403489948TICAM1c.1363C>G (p.Leu455Val)
c.946C>G (p.Leu316Val)
c.1321C>G (p.Leu441Val)
c.1228C>G (p.Leu410Val)
c.721C>G (p.Leu241Val)
19g.4817015G=CA2319605112TICAM1c.1363C= (p.Leu455=)
c.946C= (p.Leu316=)
c.1321C= (p.Leu441=)
c.1228C= (p.Leu410=)
c.721C= (p.Leu241=)
19g.4817015G>TCA403489949TICAM1c.1363C>A (p.Leu455Ile)
c.946C>A (p.Leu316Ile)
c.1321C>A (p.Leu441Ile)
c.1228C>A (p.Leu410Ile)
c.721C>A (p.Leu241Ile)
19g.4817016T>ACA505174331TICAM1c.1362A>T (p.Leu454=)
c.945A>T (p.Leu315=)
c.1320A>T (p.Leu440=)
c.1227A>T (p.Leu409=)
c.720A>T (p.Leu240=)
19g.4817016T>CCA304547511TICAM1c.1362A>G (p.Leu454=)
c.945A>G (p.Leu315=)
c.1320A>G (p.Leu440=)
c.1227A>G (p.Leu409=)
c.720A>G (p.Leu240=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.4817016T>GCA505174332TICAM1c.1362A>C (p.Leu454=)
c.945A>C (p.Leu315=)
c.1320A>C (p.Leu440=)
c.1227A>C (p.Leu409=)
c.720A>C (p.Leu240=)
dbSNP gnomAD v3 gnomAD v4
19g.4817016T=CA2319605113TICAM1c.1362A= (p.Leu454=)
c.945A= (p.Leu315=)
c.1320A= (p.Leu440=)
c.1227A= (p.Leu409=)
c.720A= (p.Leu240=)
19g.4817017A>CCA403489954TICAM1c.1361T>G (p.Leu454Arg)
c.944T>G (p.Leu315Arg)
c.1319T>G (p.Leu440Arg)
c.1226T>G (p.Leu409Arg)
c.719T>G (p.Leu240Arg)
19g.4817017A>GCA403489953TICAM1c.1361T>C (p.Leu454Pro)
c.944T>C (p.Leu315Pro)
c.1319T>C (p.Leu440Pro)
c.1226T>C (p.Leu409Pro)
c.719T>C (p.Leu240Pro)
19g.4817017A>TCA403489952TICAM1c.1361T>A (p.Leu454Gln)
c.944T>A (p.Leu315Gln)
c.1319T>A (p.Leu440Gln)
c.1226T>A (p.Leu409Gln)
c.719T>A (p.Leu240Gln)
19g.4817018G>ACA505174334TICAM1c.1360C>T (p.Leu454=)
c.943C>T (p.Leu315=)
c.1318C>T (p.Leu440=)
c.1225C>T (p.Leu409=)
c.718C>T (p.Leu240=)
19g.4817018G>CCA403489955TICAM1c.1360C>G (p.Leu454Val)
c.943C>G (p.Leu315Val)
c.1318C>G (p.Leu440Val)
c.1225C>G (p.Leu409Val)
c.718C>G (p.Leu240Val)
19g.4817018G>TCA403489957TICAM1c.1360C>A (p.Leu454Ile)
c.943C>A (p.Leu315Ile)
c.1318C>A (p.Leu440Ile)
c.1225C>A (p.Leu409Ile)
c.718C>A (p.Leu240Ile)
19g.4817019G>ACA505174335TICAM1c.1359C>T (p.Ile453=)
c.942C>T (p.Ile314=)
c.1317C>T (p.Ile439=)
c.1224C>T (p.Ile408=)
c.717C>T (p.Ile239=)
gnomAD v4
19g.4817019G>CCA403489960TICAM1c.1359C>G (p.Ile453Met)
c.942C>G (p.Ile314Met)
c.1317C>G (p.Ile439Met)
c.1224C>G (p.Ile408Met)
c.717C>G (p.Ile239Met)
19g.4817019G>TCA505174336TICAM1c.1359C>A (p.Ile453=)
c.942C>A (p.Ile314=)
c.1317C>A (p.Ile439=)
c.1224C>A (p.Ile408=)
c.717C>A (p.Ile239=)
19g.4817020A>CCA403489962TICAM1c.1358T>G (p.Ile453Ser)
c.941T>G (p.Ile314Ser)
c.1316T>G (p.Ile439Ser)
c.1223T>G (p.Ile408Ser)
c.716T>G (p.Ile239Ser)
19g.4817020A>GCA403489964TICAM1c.1358T>C (p.Ile453Thr)
c.941T>C (p.Ile314Thr)
c.1316T>C (p.Ile439Thr)
c.1223T>C (p.Ile408Thr)
c.716T>C (p.Ile239Thr)
19g.4817020A>TCA403489966TICAM1c.1358T>A (p.Ile453Asn)
c.941T>A (p.Ile314Asn)
c.1316T>A (p.Ile439Asn)
c.1223T>A (p.Ile408Asn)
c.716T>A (p.Ile239Asn)

Number of alleles fetched