Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.4816895A= | CA2319605065 | TICAM1 | c.1483T= (p.Ser495=) c.1066T= (p.Ser356=) c.1441T= (p.Ser481=) c.1348T= (p.Ser450=) c.841T= (p.Ser281=) | |
19 | g.4816895A>C | CA403489484 | TICAM1 | c.1483T>G (p.Ser495Ala) c.1066T>G (p.Ser356Ala) c.1441T>G (p.Ser481Ala) c.1348T>G (p.Ser450Ala) c.841T>G (p.Ser281Ala) | |
19 | g.4816895A>G | CA403489483 | TICAM1 | c.1483T>C (p.Ser495Pro) c.1066T>C (p.Ser356Pro) c.1441T>C (p.Ser481Pro) c.1348T>C (p.Ser450Pro) c.841T>C (p.Ser281Pro) | dbSNP |
19 | g.4816895A>T | CA403489482 | TICAM1 | c.1483T>A (p.Ser495Thr) c.1066T>A (p.Ser356Thr) c.1441T>A (p.Ser481Thr) c.1348T>A (p.Ser450Thr) c.841T>A (p.Ser281Thr) | |
19 | g.4816896G>A | CA304547395 | TICAM1 | c.1482C>T (p.Ser494=) c.1065C>T (p.Ser355=) c.1440C>T (p.Ser480=) c.1347C>T (p.Ser449=) c.840C>T (p.Ser280=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816896G>C | CA403489485 | TICAM1 | c.1482C>G (p.Ser494Arg) c.1065C>G (p.Ser355Arg) c.1440C>G (p.Ser480Arg) c.1347C>G (p.Ser449Arg) c.840C>G (p.Ser280Arg) | |
19 | g.4816896G= | CA2319605066 | TICAM1 | c.1482C= (p.Ser494=) c.1065C= (p.Ser355=) c.1440C= (p.Ser480=) c.1347C= (p.Ser449=) c.840C= (p.Ser280=) | |
19 | g.4816896G>T | CA403489486 | TICAM1 | c.1482C>A (p.Ser494Arg) c.1065C>A (p.Ser355Arg) c.1440C>A (p.Ser480Arg) c.1347C>A (p.Ser449Arg) c.840C>A (p.Ser280Arg) | |
19 | g.4816897C>A | CA403489487 | TICAM1 | c.1481G>T (p.Ser494Ile) c.1064G>T (p.Ser355Ile) c.1439G>T (p.Ser480Ile) c.1346G>T (p.Ser449Ile) c.839G>T (p.Ser280Ile) | |
19 | g.4816897C>G | CA403489488 | TICAM1 | c.1481G>C (p.Ser494Thr) c.1064G>C (p.Ser355Thr) c.1439G>C (p.Ser480Thr) c.1346G>C (p.Ser449Thr) c.839G>C (p.Ser280Thr) | |
19 | g.4816897C>T | CA403489489 | TICAM1 | c.1481G>A (p.Ser494Asn) c.1064G>A (p.Ser355Asn) c.1439G>A (p.Ser480Asn) c.1346G>A (p.Ser449Asn) c.839G>A (p.Ser280Asn) | |
19 | g.4816898T>A | CA403489490 | TICAM1 | c.1480A>T (p.Ser494Cys) c.1063A>T (p.Ser355Cys) c.1438A>T (p.Ser480Cys) c.1345A>T (p.Ser449Cys) c.838A>T (p.Ser280Cys) | |
19 | g.4816898T>C | CA403489491 | TICAM1 | c.1480A>G (p.Ser494Gly) c.1063A>G (p.Ser355Gly) c.1438A>G (p.Ser480Gly) c.1345A>G (p.Ser449Gly) c.838A>G (p.Ser280Gly) | |
19 | g.4816898T>G | CA403489492 | TICAM1 | c.1480A>C (p.Ser494Arg) c.1063A>C (p.Ser355Arg) c.1438A>C (p.Ser480Arg) c.1345A>C (p.Ser449Arg) c.838A>C (p.Ser280Arg) | |
19 | g.4816899C>A | CA403489494 | TICAM1 | c.1479G>T (p.Glu493Asp) c.1062G>T (p.Glu354Asp) c.1437G>T (p.Glu479Asp) c.1344G>T (p.Glu448Asp) c.837G>T (p.Glu279Asp) | |
19 | g.4816899C>G | CA403489493 | TICAM1 | c.1479G>C (p.Glu493Asp) c.1062G>C (p.Glu354Asp) c.1437G>C (p.Glu479Asp) c.1344G>C (p.Glu448Asp) c.837G>C (p.Glu279Asp) | COSMIC |
19 | g.4816899C>T | CA505174333 | TICAM1 | c.1479G>A (p.Glu493=) c.1062G>A (p.Glu354=) c.1437G>A (p.Glu479=) c.1344G>A (p.Glu448=) c.837G>A (p.Glu279=) | |
19 | g.4816900T>A | CA403489495 | TICAM1 | c.1478A>T (p.Glu493Val) c.1061A>T (p.Glu354Val) c.1436A>T (p.Glu479Val) c.1343A>T (p.Glu448Val) c.836A>T (p.Glu279Val) | |
19 | g.4816900T>C | CA403489496 | TICAM1 | c.1478A>G (p.Glu493Gly) c.1061A>G (p.Glu354Gly) c.1436A>G (p.Glu479Gly) c.1343A>G (p.Glu448Gly) c.836A>G (p.Glu279Gly) | |
19 | g.4816900T>G | CA403489497 | TICAM1 | c.1478A>C (p.Glu493Ala) c.1061A>C (p.Glu354Ala) c.1436A>C (p.Glu479Ala) c.1343A>C (p.Glu448Ala) c.836A>C (p.Glu279Ala) | |
19 | g.4816901C>A | CA403489498 | TICAM1 | c.1477G>T (p.Glu493Ter) c.1060G>T (p.Glu354Ter) c.1435G>T (p.Glu479Ter) c.1342G>T (p.Glu448Ter) c.835G>T (p.Glu279Ter) | |
19 | g.4816901C>G | CA403489499 | TICAM1 | c.1477G>C (p.Glu493Gln) c.1060G>C (p.Glu354Gln) c.1435G>C (p.Glu479Gln) c.1342G>C (p.Glu448Gln) c.835G>C (p.Glu279Gln) | |
19 | g.4816901C>T | CA403489500 | TICAM1 | c.1477G>A (p.Glu493Lys) c.1060G>A (p.Glu354Lys) c.1435G>A (p.Glu479Lys) c.1342G>A (p.Glu448Lys) c.835G>A (p.Glu279Lys) | COSMIC |
19 | g.4816902C>A | CA505174337 | TICAM1 | c.1476G>T (p.Leu492=) c.1059G>T (p.Leu353=) c.1434G>T (p.Leu478=) c.1341G>T (p.Leu447=) c.834G>T (p.Leu278=) | |
19 | g.4816902C>G | CA505174339 | TICAM1 | c.1476G>C (p.Leu492=) c.1059G>C (p.Leu353=) c.1434G>C (p.Leu478=) c.1341G>C (p.Leu447=) c.834G>C (p.Leu278=) | |
19 | g.4816902C>T | CA505174338 | TICAM1 | c.1476G>A (p.Leu492=) c.1059G>A (p.Leu353=) c.1434G>A (p.Leu478=) c.1341G>A (p.Leu447=) c.834G>A (p.Leu278=) | |
19 | g.4816903A>C | CA403489501 | TICAM1 | c.1475T>G (p.Leu492Arg) c.1058T>G (p.Leu353Arg) c.1433T>G (p.Leu478Arg) c.1340T>G (p.Leu447Arg) c.833T>G (p.Leu278Arg) | |
19 | g.4816903A>G | CA403489503 | TICAM1 | c.1475T>C (p.Leu492Pro) c.1058T>C (p.Leu353Pro) c.1433T>C (p.Leu478Pro) c.1340T>C (p.Leu447Pro) c.833T>C (p.Leu278Pro) | gnomAD v4 |
19 | g.4816903A>T | CA403489502 | TICAM1 | c.1475T>A (p.Leu492Gln) c.1058T>A (p.Leu353Gln) c.1433T>A (p.Leu478Gln) c.1340T>A (p.Leu447Gln) c.833T>A (p.Leu278Gln) | |
19 | g.4816904G>A | CA505174340 | TICAM1 | c.1474C>T (p.Leu492=) c.1057C>T (p.Leu353=) c.1432C>T (p.Leu478=) c.1339C>T (p.Leu447=) c.832C>T (p.Leu278=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816904G>C | CA403489504 | TICAM1 | c.1474C>G (p.Leu492Val) c.1057C>G (p.Leu353Val) c.1432C>G (p.Leu478Val) c.1339C>G (p.Leu447Val) c.832C>G (p.Leu278Val) | |
19 | g.4816904G= | CA2319605067 | TICAM1 | c.1474C= (p.Leu492=) c.1057C= (p.Leu353=) c.1432C= (p.Leu478=) c.1339C= (p.Leu447=) c.832C= (p.Leu278=) | |
19 | g.4816904G>T | CA403489505 | TICAM1 | c.1474C>A (p.Leu492Met) c.1057C>A (p.Leu353Met) c.1432C>A (p.Leu478Met) c.1339C>A (p.Leu447Met) c.832C>A (p.Leu278Met) | COSMIC |
19 | g.4816907del | CA2576579904 | TICAM1 | c.1474del (p.Leu492TrpfsTer?) c.1057del (p.Leu353TrpfsTer?) c.1432del (p.Leu478TrpfsTer?) c.1339del (p.Leu447TrpfsTer?) c.832del (p.Leu278TrpfsTer?) | |
19 | g.4816905G>A | CA505174344 | TICAM1 | c.1473C>T (p.Pro491=) c.1056C>T (p.Pro352=) c.1431C>T (p.Pro477=) c.1338C>T (p.Pro446=) c.831C>T (p.Pro277=) | dbSNP |
19 | g.4816905G>C | CA505174345 | TICAM1 | c.1473C>G (p.Pro491=) c.1056C>G (p.Pro352=) c.1431C>G (p.Pro477=) c.1338C>G (p.Pro446=) c.831C>G (p.Pro277=) | gnomAD v4 |
19 | g.4816905G= | CA2319605068 | TICAM1 | c.1473C= (p.Pro491=) c.1056C= (p.Pro352=) c.1431C= (p.Pro477=) c.1338C= (p.Pro446=) c.831C= (p.Pro277=) | |
19 | g.4816905G>T | CA505174346 | TICAM1 | c.1473C>A (p.Pro491=) c.1056C>A (p.Pro352=) c.1431C>A (p.Pro477=) c.1338C>A (p.Pro446=) c.831C>A (p.Pro277=) | |
19 | g.4816906G>A | CA403489506 | TICAM1 | c.1472C>T (p.Pro491Leu) c.1055C>T (p.Pro352Leu) c.1430C>T (p.Pro477Leu) c.1337C>T (p.Pro446Leu) c.830C>T (p.Pro277Leu) | gnomAD v4 |
19 | g.4816906G>C | CA403489507 | TICAM1 | c.1472C>G (p.Pro491Arg) c.1055C>G (p.Pro352Arg) c.1430C>G (p.Pro477Arg) c.1337C>G (p.Pro446Arg) c.830C>G (p.Pro277Arg) | |
19 | g.4816906G>T | CA403489508 | TICAM1 | c.1472C>A (p.Pro491His) c.1055C>A (p.Pro352His) c.1430C>A (p.Pro477His) c.1337C>A (p.Pro446His) c.830C>A (p.Pro277His) | |
19 | g.4816907G>A | CA403489509 | TICAM1 | c.1471C>T (p.Pro491Ser) c.1054C>T (p.Pro352Ser) c.1429C>T (p.Pro477Ser) c.1336C>T (p.Pro446Ser) c.829C>T (p.Pro277Ser) | |
19 | g.4816907G>C | CA403489510 | TICAM1 | c.1471C>G (p.Pro491Ala) c.1054C>G (p.Pro352Ala) c.1429C>G (p.Pro477Ala) c.1336C>G (p.Pro446Ala) c.829C>G (p.Pro277Ala) | |
19 | g.4816907G>T | CA403489511 | TICAM1 | c.1471C>A (p.Pro491Thr) c.1054C>A (p.Pro352Thr) c.1429C>A (p.Pro477Thr) c.1336C>A (p.Pro446Thr) c.829C>A (p.Pro277Thr) | |
19 | g.4816908C>A | CA505174351 | TICAM1 | c.1470G>T (p.Leu490=) c.1053G>T (p.Leu351=) c.1428G>T (p.Leu476=) c.1335G>T (p.Leu445=) c.828G>T (p.Leu276=) | |
19 | g.4816908C= | CA2319605069 | TICAM1 | c.1470G= (p.Leu490=) c.1053G= (p.Leu351=) c.1428G= (p.Leu476=) c.1335G= (p.Leu445=) c.828G= (p.Leu276=) | |
19 | g.4816908C>G | CA505174352 | TICAM1 | c.1470G>C (p.Leu490=) c.1053G>C (p.Leu351=) c.1428G>C (p.Leu476=) c.1335G>C (p.Leu445=) c.828G>C (p.Leu276=) | |
19 | g.4816908C>T | CA505174353 | TICAM1 | c.1470G>A (p.Leu490=) c.1053G>A (p.Leu351=) c.1428G>A (p.Leu476=) c.1335G>A (p.Leu445=) c.828G>A (p.Leu276=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816909A= | CA2319605070 | TICAM1 | c.1469T= (p.Leu490=) c.1052T= (p.Leu351=) c.1427T= (p.Leu476=) c.1334T= (p.Leu445=) c.827T= (p.Leu276=) | |
19 | g.4816909A>C | CA403489512 | TICAM1 | c.1469T>G (p.Leu490Arg) c.1052T>G (p.Leu351Arg) c.1427T>G (p.Leu476Arg) c.1334T>G (p.Leu445Arg) c.827T>G (p.Leu276Arg) | dbSNP |
19 | g.4816909A>G | CA403489513 | TICAM1 | c.1469T>C (p.Leu490Pro) c.1052T>C (p.Leu351Pro) c.1427T>C (p.Leu476Pro) c.1334T>C (p.Leu445Pro) c.827T>C (p.Leu276Pro) | |
19 | g.4816909A>T | CA403489514 | TICAM1 | c.1469T>A (p.Leu490Gln) c.1052T>A (p.Leu351Gln) c.1427T>A (p.Leu476Gln) c.1334T>A (p.Leu445Gln) c.827T>A (p.Leu276Gln) | |
19 | g.4816910G>A | CA505174354 | TICAM1 | c.1468C>T (p.Leu490=) c.1051C>T (p.Leu351=) c.1426C>T (p.Leu476=) c.1333C>T (p.Leu445=) c.826C>T (p.Leu276=) | dbSNP gnomAD v4 |
19 | g.4816910G>C | CA403489516 | TICAM1 | c.1468C>G (p.Leu490Val) c.1051C>G (p.Leu351Val) c.1426C>G (p.Leu476Val) c.1333C>G (p.Leu445Val) c.826C>G (p.Leu276Val) | |
19 | g.4816910G= | CA2319605071 | TICAM1 | c.1468C= (p.Leu490=) c.1051C= (p.Leu351=) c.1426C= (p.Leu476=) c.1333C= (p.Leu445=) c.826C= (p.Leu276=) | |
19 | g.4816910G>T | CA403489515 | TICAM1 | c.1468C>A (p.Leu490Met) c.1051C>A (p.Leu351Met) c.1426C>A (p.Leu476Met) c.1333C>A (p.Leu445Met) c.826C>A (p.Leu276Met) | |
19 | g.4816911G>A | CA505174358 | TICAM1 | c.1467C>T (p.Phe489=) c.1050C>T (p.Phe350=) c.1425C>T (p.Phe475=) c.1332C>T (p.Phe444=) c.825C>T (p.Phe275=) | |
19 | g.4816911G>C | CA403489517 | TICAM1 | c.1467C>G (p.Phe489Leu) c.1050C>G (p.Phe350Leu) c.1425C>G (p.Phe475Leu) c.1332C>G (p.Phe444Leu) c.825C>G (p.Phe275Leu) | COSMIC |
19 | g.4816911G>T | CA403489518 | TICAM1 | c.1467C>A (p.Phe489Leu) c.1050C>A (p.Phe350Leu) c.1425C>A (p.Phe475Leu) c.1332C>A (p.Phe444Leu) c.825C>A (p.Phe275Leu) | |
19 | g.4816912A>C | CA403489519 | TICAM1 | c.1466T>G (p.Phe489Cys) c.1049T>G (p.Phe350Cys) c.1424T>G (p.Phe475Cys) c.1331T>G (p.Phe444Cys) c.824T>G (p.Phe275Cys) | |
19 | g.4816912A>G | CA403489520 | TICAM1 | c.1466T>C (p.Phe489Ser) c.1049T>C (p.Phe350Ser) c.1424T>C (p.Phe475Ser) c.1331T>C (p.Phe444Ser) c.824T>C (p.Phe275Ser) | |
19 | g.4816912A>T | CA403489521 | TICAM1 | c.1466T>A (p.Phe489Tyr) c.1049T>A (p.Phe350Tyr) c.1424T>A (p.Phe475Tyr) c.1331T>A (p.Phe444Tyr) c.824T>A (p.Phe275Tyr) | |
19 | g.4816913A>C | CA403489522 | TICAM1 | c.1465T>G (p.Phe489Val) c.1048T>G (p.Phe350Val) c.1423T>G (p.Phe475Val) c.1330T>G (p.Phe444Val) c.823T>G (p.Phe275Val) | |
19 | g.4816913A>G | CA403489523 | TICAM1 | c.1465T>C (p.Phe489Leu) c.1048T>C (p.Phe350Leu) c.1423T>C (p.Phe475Leu) c.1330T>C (p.Phe444Leu) c.823T>C (p.Phe275Leu) | |
19 | g.4816913A>T | CA403489524 | TICAM1 | c.1465T>A (p.Phe489Ile) c.1048T>A (p.Phe350Ile) c.1423T>A (p.Phe475Ile) c.1330T>A (p.Phe444Ile) c.823T>A (p.Phe275Ile) | |
19 | g.4816914G>A | CA505174362 | TICAM1 | c.1464C>T (p.Pro488=) c.1047C>T (p.Pro349=) c.1422C>T (p.Pro474=) c.1329C>T (p.Pro443=) c.822C>T (p.Pro274=) | |
19 | g.4816914G>C | CA505174366 | TICAM1 | c.1464C>G (p.Pro488=) c.1047C>G (p.Pro349=) c.1422C>G (p.Pro474=) c.1329C>G (p.Pro443=) c.822C>G (p.Pro274=) | gnomAD v4 |
19 | g.4816914G>T | CA505174364 | TICAM1 | c.1464C>A (p.Pro488=) c.1047C>A (p.Pro349=) c.1422C>A (p.Pro474=) c.1329C>A (p.Pro443=) c.822C>A (p.Pro274=) | |
19 | g.4816917del | CA2586031837 | TICAM1 | c.1464del (p.Phe489SerfsTer?) c.1047del (p.Phe350SerfsTer?) c.1422del (p.Phe475SerfsTer?) c.1329del (p.Phe444SerfsTer?) c.822del (p.Phe275SerfsTer?) | gnomAD v4 |
19 | g.4816915G>A | CA403489525 | TICAM1 | c.1463C>T (p.Pro488Leu) c.1046C>T (p.Pro349Leu) c.1421C>T (p.Pro474Leu) c.1328C>T (p.Pro443Leu) c.821C>T (p.Pro274Leu) | |
19 | g.4816915G>C | CA403489527 | TICAM1 | c.1463C>G (p.Pro488Arg) c.1046C>G (p.Pro349Arg) c.1421C>G (p.Pro474Arg) c.1328C>G (p.Pro443Arg) c.821C>G (p.Pro274Arg) | |
19 | g.4816915G>T | CA403489526 | TICAM1 | c.1463C>A (p.Pro488His) c.1046C>A (p.Pro349His) c.1421C>A (p.Pro474His) c.1328C>A (p.Pro443His) c.821C>A (p.Pro274His) | |
19 | g.4816916G>A | CA403489528 | TICAM1 | c.1462C>T (p.Pro488Ser) c.1045C>T (p.Pro349Ser) c.1420C>T (p.Pro474Ser) c.1327C>T (p.Pro443Ser) c.820C>T (p.Pro274Ser) | |
19 | g.4816916G>C | CA403489529 | TICAM1 | c.1462C>G (p.Pro488Ala) c.1045C>G (p.Pro349Ala) c.1420C>G (p.Pro474Ala) c.1327C>G (p.Pro443Ala) c.820C>G (p.Pro274Ala) | |
19 | g.4816916G>T | CA403489530 | TICAM1 | c.1462C>A (p.Pro488Thr) c.1045C>A (p.Pro349Thr) c.1420C>A (p.Pro474Thr) c.1327C>A (p.Pro443Thr) c.820C>A (p.Pro274Thr) | |
19 | g.4816917G>A | CA505174370 | TICAM1 | c.1461C>T (p.Ile487=) c.1044C>T (p.Ile348=) c.1419C>T (p.Ile473=) c.1326C>T (p.Ile442=) c.819C>T (p.Ile273=) | gnomAD v4 |
19 | g.4816917G>C | CA403489531 | TICAM1 | c.1461C>G (p.Ile487Met) c.1044C>G (p.Ile348Met) c.1419C>G (p.Ile473Met) c.1326C>G (p.Ile442Met) c.819C>G (p.Ile273Met) | |
19 | g.4816917G= | CA2319605072 | TICAM1 | c.1461C= (p.Ile487=) c.1044C= (p.Ile348=) c.1419C= (p.Ile473=) c.1326C= (p.Ile442=) c.819C= (p.Ile273=) | |
19 | g.4816917G>T | CA505174372 | TICAM1 | c.1461C>A (p.Ile487=) c.1044C>A (p.Ile348=) c.1419C>A (p.Ile473=) c.1326C>A (p.Ile442=) c.819C>A (p.Ile273=) | dbSNP |
19 | g.4816918A>C | CA403489532 | TICAM1 | c.1460T>G (p.Ile487Ser) c.1043T>G (p.Ile348Ser) c.1418T>G (p.Ile473Ser) c.1325T>G (p.Ile442Ser) c.818T>G (p.Ile273Ser) | |
19 | g.4816918A>G | CA403489534 | TICAM1 | c.1460T>C (p.Ile487Thr) c.1043T>C (p.Ile348Thr) c.1418T>C (p.Ile473Thr) c.1325T>C (p.Ile442Thr) c.818T>C (p.Ile273Thr) | gnomAD v4 |
19 | g.4816918A>T | CA403489533 | TICAM1 | c.1460T>A (p.Ile487Asn) c.1043T>A (p.Ile348Asn) c.1418T>A (p.Ile473Asn) c.1325T>A (p.Ile442Asn) c.818T>A (p.Ile273Asn) | |
19 | g.4816919T>A | CA403489535 | TICAM1 | c.1459A>T (p.Ile487Phe) c.1042A>T (p.Ile348Phe) c.1417A>T (p.Ile473Phe) c.1324A>T (p.Ile442Phe) c.817A>T (p.Ile273Phe) | |
19 | g.4816919T>C | CA403489536 | TICAM1 | c.1459A>G (p.Ile487Val) c.1042A>G (p.Ile348Val) c.1417A>G (p.Ile473Val) c.1324A>G (p.Ile442Val) c.817A>G (p.Ile273Val) | gnomAD v4 |
19 | g.4816919T>G | CA403489538 | TICAM1 | c.1459A>C (p.Ile487Leu) c.1042A>C (p.Ile348Leu) c.1417A>C (p.Ile473Leu) c.1324A>C (p.Ile442Leu) c.817A>C (p.Ile273Leu) | |
19 | g.4816920G>A | CA505174374 | TICAM1 | c.1458C>T (p.Val486=) c.1041C>T (p.Val347=) c.1416C>T (p.Val472=) c.1323C>T (p.Val441=) c.816C>T (p.Val272=) | |
19 | g.4816920G>C | CA505174375 | TICAM1 | c.1458C>G (p.Val486=) c.1041C>G (p.Val347=) c.1416C>G (p.Val472=) c.1323C>G (p.Val441=) c.816C>G (p.Val272=) | |
19 | g.4816920G>T | CA505174376 | TICAM1 | c.1458C>A (p.Val486=) c.1041C>A (p.Val347=) c.1416C>A (p.Val472=) c.1323C>A (p.Val441=) c.816C>A (p.Val272=) | |
19 | g.4816921A>C | CA403489540 | TICAM1 | c.1457T>G (p.Val486Gly) c.1040T>G (p.Val347Gly) c.1415T>G (p.Val472Gly) c.1322T>G (p.Val441Gly) c.815T>G (p.Val272Gly) | |
19 | g.4816921A>G | CA403489542 | TICAM1 | c.1457T>C (p.Val486Ala) c.1040T>C (p.Val347Ala) c.1415T>C (p.Val472Ala) c.1322T>C (p.Val441Ala) c.815T>C (p.Val272Ala) | |
19 | g.4816921A>T | CA403489543 | TICAM1 | c.1457T>A (p.Val486Asp) c.1040T>A (p.Val347Asp) c.1415T>A (p.Val472Asp) c.1322T>A (p.Val441Asp) c.815T>A (p.Val272Asp) | |
19 | g.4816924_4816925del | CA2586031838 | TICAM1 | c.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 |
19 | g.4816922C>A | CA403489546 | TICAM1 | c.1456G>T (p.Val486Phe) c.1039G>T (p.Val347Phe) c.1414G>T (p.Val472Phe) c.1321G>T (p.Val441Phe) c.814G>T (p.Val272Phe) | |
19 | g.4816922C>G | CA403489548 | TICAM1 | c.1456G>C (p.Val486Leu) c.1039G>C (p.Val347Leu) c.1414G>C (p.Val472Leu) c.1321G>C (p.Val441Leu) c.814G>C (p.Val272Leu) | |
19 | g.4816922C>T | CA403489549 | TICAM1 | c.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 |
19 | g.4816923A>C | CA403489552 | TICAM1 | c.1455T>G (p.Cys485Trp) c.1038T>G (p.Cys346Trp) c.1413T>G (p.Cys471Trp) c.1320T>G (p.Cys440Trp) c.813T>G (p.Cys271Trp) | |
19 | g.4816923A>G | CA505174381 | TICAM1 | c.1455T>C (p.Cys485=) c.1038T>C (p.Cys346=) c.1413T>C (p.Cys471=) c.1320T>C (p.Cys440=) c.813T>C (p.Cys271=) | |
19 | g.4816923A>T | CA403489553 | TICAM1 | c.1455T>A (p.Cys485Ter) c.1038T>A (p.Cys346Ter) c.1413T>A (p.Cys471Ter) c.1320T>A (p.Cys440Ter) c.813T>A (p.Cys271Ter) | |
19 | g.4816924C>A | CA403489555 | TICAM1 | c.1454G>T (p.Cys485Phe) c.1037G>T (p.Cys346Phe) c.1412G>T (p.Cys471Phe) c.1319G>T (p.Cys440Phe) c.812G>T (p.Cys271Phe) | |
19 | g.4816924C= | CA2319605073 | TICAM1 | c.1454G= (p.Cys485=) c.1037G= (p.Cys346=) c.1412G= (p.Cys471=) c.1319G= (p.Cys440=) c.812G= (p.Cys271=) | |
19 | g.4816924C>G | CA403489558 | TICAM1 | c.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 |
19 | g.4816924C>T | CA9105129 | TICAM1 | c.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 |
19 | g.4816925A>C | CA403489561 | TICAM1 | c.1453T>G (p.Cys485Gly) c.1036T>G (p.Cys346Gly) c.1411T>G (p.Cys471Gly) c.1318T>G (p.Cys440Gly) c.811T>G (p.Cys271Gly) | |
19 | g.4816925A>G | CA403489564 | TICAM1 | c.1453T>C (p.Cys485Arg) c.1036T>C (p.Cys346Arg) c.1411T>C (p.Cys471Arg) c.1318T>C (p.Cys440Arg) c.811T>C (p.Cys271Arg) | |
19 | g.4816925A>T | CA403489562 | TICAM1 | c.1453T>A (p.Cys485Ser) c.1036T>A (p.Cys346Ser) c.1411T>A (p.Cys471Ser) c.1318T>A (p.Cys440Ser) c.811T>A (p.Cys271Ser) | |
19 | g.4816926G>A | CA505174383 | TICAM1 | c.1452C>T (p.Asp484=) c.1035C>T (p.Asp345=) c.1410C>T (p.Asp470=) c.1317C>T (p.Asp439=) c.810C>T (p.Asp270=) | |
19 | g.4816926G>C | CA403489566 | TICAM1 | c.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 |
19 | g.4816926G>T | CA403489568 | TICAM1 | c.1452C>A (p.Asp484Glu) c.1035C>A (p.Asp345Glu) c.1410C>A (p.Asp470Glu) c.1317C>A (p.Asp439Glu) c.810C>A (p.Asp270Glu) | |
19 | g.4816927T>A | CA9105130 | TICAM1 | c.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 |
19 | g.4816927T>C | CA403489571 | TICAM1 | c.1451A>G (p.Asp484Gly) c.1034A>G (p.Asp345Gly) c.1409A>G (p.Asp470Gly) c.1316A>G (p.Asp439Gly) c.809A>G (p.Asp270Gly) | |
19 | g.4816927T>G | CA403489573 | TICAM1 | c.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 |
19 | g.4816927T= | CA2319605074 | TICAM1 | c.1451A= (p.Asp484=) c.1034A= (p.Asp345=) c.1409A= (p.Asp470=) c.1316A= (p.Asp439=) c.809A= (p.Asp270=) | |
19 | g.4816928C>A | CA9105131 | TICAM1 | c.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 |
19 | g.4816928C= | CA2319605075 | TICAM1 | c.1450G= (p.Asp484=) c.1033G= (p.Asp345=) c.1408G= (p.Asp470=) c.1315G= (p.Asp439=) c.808G= (p.Asp270=) | |
19 | g.4816928C>G | CA403489576 | TICAM1 | c.1450G>C (p.Asp484His) c.1033G>C (p.Asp345His) c.1408G>C (p.Asp470His) c.1315G>C (p.Asp439His) c.808G>C (p.Asp270His) | |
19 | g.4816928C>T | CA403489578 | TICAM1 | c.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 |
19 | g.4816929T>A | CA505174388 | TICAM1 | c.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 |
19 | g.4816929T>C | CA505174389 | TICAM1 | c.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 |
19 | g.4816929T>G | CA505174390 | TICAM1 | c.1449A>C (p.Pro483=) c.1032A>C (p.Pro344=) c.1407A>C (p.Pro469=) c.1314A>C (p.Pro438=) c.807A>C (p.Pro269=) | |
19 | g.4816929T= | CA2319605076 | TICAM1 | c.1449A= (p.Pro483=) c.1032A= (p.Pro344=) c.1407A= (p.Pro469=) c.1314A= (p.Pro438=) c.807A= (p.Pro269=) | |
19 | g.4816930G>A | CA403489581 | TICAM1 | c.1448C>T (p.Pro483Leu) c.1031C>T (p.Pro344Leu) c.1406C>T (p.Pro469Leu) c.1313C>T (p.Pro438Leu) c.806C>T (p.Pro269Leu) | |
19 | g.4816930G>C | CA403489583 | TICAM1 | c.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 |
19 | g.4816930G= | CA2319605077 | TICAM1 | c.1448C= (p.Pro483=) c.1031C= (p.Pro344=) c.1406C= (p.Pro469=) c.1313C= (p.Pro438=) c.806C= (p.Pro269=) | |
19 | g.4816930G>T | CA403489584 | TICAM1 | c.1448C>A (p.Pro483Gln) c.1031C>A (p.Pro344Gln) c.1406C>A (p.Pro469Gln) c.1313C>A (p.Pro438Gln) c.806C>A (p.Pro269Gln) | |
19 | g.4816931G>A | CA9105132 | TICAM1 | c.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 |
19 | g.4816931G>C | CA403489586 | TICAM1 | c.1447C>G (p.Pro483Ala) c.1030C>G (p.Pro344Ala) c.1405C>G (p.Pro469Ala) c.1312C>G (p.Pro438Ala) c.805C>G (p.Pro269Ala) | |
19 | g.4816931G= | CA2319605078 | TICAM1 | c.1447C= (p.Pro483=) c.1030C= (p.Pro344=) c.1405C= (p.Pro469=) c.1312C= (p.Pro438=) c.805C= (p.Pro269=) | |
19 | g.4816931G>T | CA403489588 | TICAM1 | c.1447C>A (p.Pro483Thr) c.1030C>A (p.Pro344Thr) c.1405C>A (p.Pro469Thr) c.1312C>A (p.Pro438Thr) c.805C>A (p.Pro269Thr) | |
19 | g.4816932C>A | CA505174392 | TICAM1 | c.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 |
19 | g.4816932C= | CA2319605079 | TICAM1 | c.1446G= (p.Ser482=) c.1029G= (p.Ser343=) c.1404G= (p.Ser468=) c.1311G= (p.Ser437=) c.804G= (p.Ser268=) | |
19 | g.4816932C>G | CA505174393 | TICAM1 | c.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 |
19 | g.4816932C>T | CA9105133 | TICAM1 | c.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 |
19 | g.4816933G>A | CA403489592 | TICAM1 | c.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 |
19 | g.4816933G>C | CA403489594 | TICAM1 | c.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 |
19 | g.4816933G= | CA2319605080 | TICAM1 | c.1445C= (p.Ser482=) c.1028C= (p.Ser343=) c.1403C= (p.Ser468=) c.1310C= (p.Ser437=) c.803C= (p.Ser268=) | |
19 | g.4816933G>T | CA403489596 | TICAM1 | c.1445C>A (p.Ser482Ter) c.1028C>A (p.Ser343Ter) c.1403C>A (p.Ser468Ter) c.1310C>A (p.Ser437Ter) c.803C>A (p.Ser268Ter) | |
19 | g.4816934A>C | CA403489597 | TICAM1 | c.1444T>G (p.Ser482Ala) c.1027T>G (p.Ser343Ala) c.1402T>G (p.Ser468Ala) c.1309T>G (p.Ser437Ala) c.802T>G (p.Ser268Ala) | |
19 | g.4816934A>G | CA403489598 | TICAM1 | c.1444T>C (p.Ser482Pro) c.1027T>C (p.Ser343Pro) c.1402T>C (p.Ser468Pro) c.1309T>C (p.Ser437Pro) c.802T>C (p.Ser268Pro) | |
19 | g.4816934A>T | CA403489600 | TICAM1 | c.1444T>A (p.Ser482Thr) c.1027T>A (p.Ser343Thr) c.1402T>A (p.Ser468Thr) c.1309T>A (p.Ser437Thr) c.802T>A (p.Ser268Thr) | |
19 | g.4816935C>A | CA505174395 | TICAM1 | c.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 |
19 | g.4816935C>G | CA505174396 | TICAM1 | c.1443G>C (p.Gly481=) c.1026G>C (p.Gly342=) c.1401G>C (p.Gly467=) c.1308G>C (p.Gly436=) c.801G>C (p.Gly267=) | |
19 | g.4816935C>T | CA505174397 | TICAM1 | c.1443G>A (p.Gly481=) c.1026G>A (p.Gly342=) c.1401G>A (p.Gly467=) c.1308G>A (p.Gly436=) c.801G>A (p.Gly267=) | |
19 | g.4816936C>A | CA403489603 | TICAM1 | c.1442G>T (p.Gly481Val) c.1025G>T (p.Gly342Val) c.1400G>T (p.Gly467Val) c.1307G>T (p.Gly436Val) c.800G>T (p.Gly267Val) | |
19 | g.4816936C= | CA2319605081 | TICAM1 | c.1442G= (p.Gly481=) c.1025G= (p.Gly342=) c.1400G= (p.Gly467=) c.1307G= (p.Gly436=) c.800G= (p.Gly267=) | |
19 | g.4816936C>G | CA9105134 | TICAM1 | c.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 |
19 | g.4816936C>T | CA403489605 | TICAM1 | c.1442G>A (p.Gly481Glu) c.1025G>A (p.Gly342Glu) c.1400G>A (p.Gly467Glu) c.1307G>A (p.Gly436Glu) c.800G>A (p.Gly267Glu) | |
19 | g.4816937C>A | CA9105135 | TICAM1 | c.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 |
19 | g.4816937C= | CA2319605082 | TICAM1 | c.1441G= (p.Gly481=) c.1024G= (p.Gly342=) c.1399G= (p.Gly467=) c.1306G= (p.Gly436=) c.799G= (p.Gly267=) | |
19 | g.4816937C>G | CA403489610 | TICAM1 | c.1441G>C (p.Gly481Arg) c.1024G>C (p.Gly342Arg) c.1399G>C (p.Gly467Arg) c.1306G>C (p.Gly436Arg) c.799G>C (p.Gly267Arg) | |
19 | g.4816937C>T | CA403489608 | TICAM1 | c.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 |
19 | g.4816938C>A | CA403489612 | TICAM1 | c.1440G>T (p.Gln480His) c.1023G>T (p.Gln341His) c.1398G>T (p.Gln466His) c.1305G>T (p.Gln435His) c.798G>T (p.Gln266His) | |
19 | g.4816938C>G | CA403489613 | TICAM1 | c.1440G>C (p.Gln480His) c.1023G>C (p.Gln341His) c.1398G>C (p.Gln466His) c.1305G>C (p.Gln435His) c.798G>C (p.Gln266His) | |
19 | g.4816938C>T | CA505174406 | TICAM1 | c.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 |
19 | g.4816939T>A | CA403489616 | TICAM1 | c.1439A>T (p.Gln480Leu) c.1022A>T (p.Gln341Leu) c.1397A>T (p.Gln466Leu) c.1304A>T (p.Gln435Leu) c.797A>T (p.Gln266Leu) | |
19 | g.4816939T>C | CA403489618 | TICAM1 | c.1439A>G (p.Gln480Arg) c.1022A>G (p.Gln341Arg) c.1397A>G (p.Gln466Arg) c.1304A>G (p.Gln435Arg) c.797A>G (p.Gln266Arg) | |
19 | g.4816939T>G | CA403489620 | TICAM1 | c.1439A>C (p.Gln480Pro) c.1022A>C (p.Gln341Pro) c.1397A>C (p.Gln466Pro) c.1304A>C (p.Gln435Pro) c.797A>C (p.Gln266Pro) | |
19 | g.4816940G>A | CA403489622 | TICAM1 | c.1438C>T (p.Gln480Ter) c.1021C>T (p.Gln341Ter) c.1396C>T (p.Gln466Ter) c.1303C>T (p.Gln435Ter) c.796C>T (p.Gln266Ter) | |
19 | g.4816940G>C | CA403489624 | TICAM1 | c.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 |
19 | g.4816940G>T | CA403489626 | TICAM1 | c.1438C>A (p.Gln480Lys) c.1021C>A (p.Gln341Lys) c.1396C>A (p.Gln466Lys) c.1303C>A (p.Gln435Lys) c.796C>A (p.Gln266Lys) | |
19 | g.4816941T>A | CA505174408 | TICAM1 | c.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 |
19 | g.4816941T>C | CA505174409 | TICAM1 | c.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 |
19 | g.4816941T>G | CA9105136 | TICAM1 | c.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 |
19 | g.4816941T= | CA2319605083 | TICAM1 | c.1437A= (p.Arg479=) c.1020A= (p.Arg340=) c.1395A= (p.Arg465=) c.1302A= (p.Arg434=) c.795A= (p.Arg265=) | |
19 | g.4816942C>A | CA9105137 | TICAM1 | c.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 |
19 | g.4816942C= | CA2319605084 | TICAM1 | c.1436G= (p.Arg479=) c.1019G= (p.Arg340=) c.1394G= (p.Arg465=) c.1301G= (p.Arg434=) c.794G= (p.Arg265=) | |
19 | g.4816942C>G | CA403489630 | TICAM1 | c.1436G>C (p.Arg479Pro) c.1019G>C (p.Arg340Pro) c.1394G>C (p.Arg465Pro) c.1301G>C (p.Arg434Pro) c.794G>C (p.Arg265Pro) | |
19 | g.4816942C>T | CA9105138 | TICAM1 | c.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 |
19 | g.4816943G>A | CA403489633 | TICAM1 | c.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 |
19 | g.4816943G>C | CA403489635 | TICAM1 | c.1435C>G (p.Arg479Gly) c.1018C>G (p.Arg340Gly) c.1393C>G (p.Arg465Gly) c.1300C>G (p.Arg434Gly) c.793C>G (p.Arg265Gly) | |
19 | g.4816943G= | CA2319605085 | TICAM1 | c.1435C= (p.Arg479=) c.1018C= (p.Arg340=) c.1393C= (p.Arg465=) c.1300C= (p.Arg434=) c.793C= (p.Arg265=) | |
19 | g.4816943G>T | CA505174410 | TICAM1 | c.1435C>A (p.Arg479=) c.1018C>A (p.Arg340=) c.1393C>A (p.Arg465=) c.1300C>A (p.Arg434=) c.793C>A (p.Arg265=) | |
19 | g.4816944C>A | CA505174412 | TICAM1 | c.1434G>T (p.Thr478=) c.1017G>T (p.Thr339=) c.1392G>T (p.Thr464=) c.1299G>T (p.Thr433=) c.792G>T (p.Thr264=) | |
19 | g.4816944C= | CA2319605086 | TICAM1 | c.1434G= (p.Thr478=) c.1017G= (p.Thr339=) c.1392G= (p.Thr464=) c.1299G= (p.Thr433=) c.792G= (p.Thr264=) | |
19 | g.4816944C>G | CA505174411 | TICAM1 | c.1434G>C (p.Thr478=) c.1017G>C (p.Thr339=) c.1392G>C (p.Thr464=) c.1299G>C (p.Thr433=) c.792G>C (p.Thr264=) | |
19 | g.4816944C>T | CA9105139 | TICAM1 | c.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 |
19 | g.4816945G>A | CA403489638 | TICAM1 | c.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 |
19 | g.4816945G>C | CA403489640 | TICAM1 | c.1433C>G (p.Thr478Arg) c.1016C>G (p.Thr339Arg) c.1391C>G (p.Thr464Arg) c.1298C>G (p.Thr433Arg) c.791C>G (p.Thr264Arg) | |
19 | g.4816945G= | CA2319605087 | TICAM1 | c.1433C= (p.Thr478=) c.1016C= (p.Thr339=) c.1391C= (p.Thr464=) c.1298C= (p.Thr433=) c.791C= (p.Thr264=) | |
19 | g.4816945G>T | CA403489642 | TICAM1 | c.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 |
19 | g.4816946T>A | CA403489644 | TICAM1 | c.1432A>T (p.Thr478Ser) c.1015A>T (p.Thr339Ser) c.1390A>T (p.Thr464Ser) c.1297A>T (p.Thr433Ser) c.790A>T (p.Thr264Ser) | |
19 | g.4816946T>C | CA403489646 | TICAM1 | c.1432A>G (p.Thr478Ala) c.1015A>G (p.Thr339Ala) c.1390A>G (p.Thr464Ala) c.1297A>G (p.Thr433Ala) c.790A>G (p.Thr264Ala) | |
19 | g.4816946T>G | CA403489648 | TICAM1 | c.1432A>C (p.Thr478Pro) c.1015A>C (p.Thr339Pro) c.1390A>C (p.Thr464Pro) c.1297A>C (p.Thr433Pro) c.790A>C (p.Thr264Pro) | |
19 | g.4816947G>A | CA9105140 | TICAM1 | c.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 |
19 | g.4816947G>C | CA505174219 | TICAM1 | c.1431C>G (p.Leu477=) c.1014C>G (p.Leu338=) c.1389C>G (p.Leu463=) c.1296C>G (p.Leu432=) c.789C>G (p.Leu263=) | |
19 | g.4816947G= | CA2319605088 | TICAM1 | c.1431C= (p.Leu477=) c.1014C= (p.Leu338=) c.1389C= (p.Leu463=) c.1296C= (p.Leu432=) c.789C= (p.Leu263=) | |
19 | g.4816947G>T | CA505174221 | TICAM1 | c.1431C>A (p.Leu477=) c.1014C>A (p.Leu338=) c.1389C>A (p.Leu463=) c.1296C>A (p.Leu432=) c.789C>A (p.Leu263=) | |
19 | g.4816948A>C | CA403489652 | TICAM1 | c.1430T>G (p.Leu477Arg) c.1013T>G (p.Leu338Arg) c.1388T>G (p.Leu463Arg) c.1295T>G (p.Leu432Arg) c.788T>G (p.Leu263Arg) | |
19 | g.4816948A>G | CA403489653 | TICAM1 | c.1430T>C (p.Leu477Pro) c.1013T>C (p.Leu338Pro) c.1388T>C (p.Leu463Pro) c.1295T>C (p.Leu432Pro) c.788T>C (p.Leu263Pro) | |
19 | g.4816948A>T | CA403489655 | TICAM1 | c.1430T>A (p.Leu477His) c.1013T>A (p.Leu338His) c.1388T>A (p.Leu463His) c.1295T>A (p.Leu432His) c.788T>A (p.Leu263His) | |
19 | g.4816949G>A | CA403489657 | TICAM1 | c.1429C>T (p.Leu477Phe) c.1012C>T (p.Leu338Phe) c.1387C>T (p.Leu463Phe) c.1294C>T (p.Leu432Phe) c.787C>T (p.Leu263Phe) | |
19 | g.4816949G>C | CA403489659 | TICAM1 | c.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 |
19 | g.4816949G= | CA2319605089 | TICAM1 | c.1429C= (p.Leu477=) c.1012C= (p.Leu338=) c.1387C= (p.Leu463=) c.1294C= (p.Leu432=) c.787C= (p.Leu263=) | |
19 | g.4816949G>T | CA403489661 | TICAM1 | c.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 |
19 | g.4816950G>A | CA9105141 | TICAM1 | c.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 |
19 | g.4816950G>C | CA403489663 | TICAM1 | c.1428C>G (p.Asn476Lys) c.1011C>G (p.Asn337Lys) c.1386C>G (p.Asn462Lys) c.1293C>G (p.Asn431Lys) c.786C>G (p.Asn262Lys) | |
19 | g.4816950G= | CA2319605090 | TICAM1 | c.1428C= (p.Asn476=) c.1011C= (p.Asn337=) c.1386C= (p.Asn462=) c.1293C= (p.Asn431=) c.786C= (p.Asn262=) | |
19 | g.4816950G>T | CA304547459 | TICAM1 | c.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 |
19 | g.4816951T>A | CA403489667 | TICAM1 | c.1427A>T (p.Asn476Ile) c.1010A>T (p.Asn337Ile) c.1385A>T (p.Asn462Ile) c.1292A>T (p.Asn431Ile) c.785A>T (p.Asn262Ile) | |
19 | g.4816951T>C | CA403489669 | TICAM1 | c.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 |
19 | g.4816951T>G | CA403489668 | TICAM1 | c.1427A>C (p.Asn476Thr) c.1010A>C (p.Asn337Thr) c.1385A>C (p.Asn462Thr) c.1292A>C (p.Asn431Thr) c.785A>C (p.Asn262Thr) | |
19 | g.4816952T>A | CA403489671 | TICAM1 | c.1426A>T (p.Asn476Tyr) c.1009A>T (p.Asn337Tyr) c.1384A>T (p.Asn462Tyr) c.1291A>T (p.Asn431Tyr) c.784A>T (p.Asn262Tyr) | |
19 | g.4816952T>C | CA403489674 | TICAM1 | c.1426A>G (p.Asn476Asp) c.1009A>G (p.Asn337Asp) c.1384A>G (p.Asn462Asp) c.1291A>G (p.Asn431Asp) c.784A>G (p.Asn262Asp) | |
19 | g.4816952T>G | CA403489673 | TICAM1 | c.1426A>C (p.Asn476His) c.1009A>C (p.Asn337His) c.1384A>C (p.Asn462His) c.1291A>C (p.Asn431His) c.784A>C (p.Asn262His) | |
19 | g.4816953G>A | CA505174228 | TICAM1 | c.1425C>T (p.Ser475=) c.1008C>T (p.Ser336=) c.1383C>T (p.Ser461=) c.1290C>T (p.Ser430=) c.783C>T (p.Ser261=) | |
19 | g.4816953G>C | CA403489678 | TICAM1 | c.1425C>G (p.Ser475Arg) c.1008C>G (p.Ser336Arg) c.1383C>G (p.Ser461Arg) c.1290C>G (p.Ser430Arg) c.783C>G (p.Ser261Arg) | |
19 | g.4816953G>T | CA403489679 | TICAM1 | c.1425C>A (p.Ser475Arg) c.1008C>A (p.Ser336Arg) c.1383C>A (p.Ser461Arg) c.1290C>A (p.Ser430Arg) c.783C>A (p.Ser261Arg) | |
19 | g.4816954C>A | CA403489681 | TICAM1 | c.1424G>T (p.Ser475Ile) c.1007G>T (p.Ser336Ile) c.1382G>T (p.Ser461Ile) c.1289G>T (p.Ser430Ile) c.782G>T (p.Ser261Ile) | |
19 | g.4816954C>G | CA403489683 | TICAM1 | c.1424G>C (p.Ser475Thr) c.1007G>C (p.Ser336Thr) c.1382G>C (p.Ser461Thr) c.1289G>C (p.Ser430Thr) c.782G>C (p.Ser261Thr) | |
19 | g.4816954C>T | CA403489684 | TICAM1 | c.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 |
19 | g.4816955T>A | CA403489687 | TICAM1 | c.1423A>T (p.Ser475Cys) c.1006A>T (p.Ser336Cys) c.1381A>T (p.Ser461Cys) c.1288A>T (p.Ser430Cys) c.781A>T (p.Ser261Cys) | |
19 | g.4816955T>C | CA403489689 | TICAM1 | c.1423A>G (p.Ser475Gly) c.1006A>G (p.Ser336Gly) c.1381A>G (p.Ser461Gly) c.1288A>G (p.Ser430Gly) c.781A>G (p.Ser261Gly) | |
19 | g.4816955T>G | CA403489691 | TICAM1 | c.1423A>C (p.Ser475Arg) c.1006A>C (p.Ser336Arg) c.1381A>C (p.Ser461Arg) c.1288A>C (p.Ser430Arg) c.781A>C (p.Ser261Arg) | |
19 | g.4816956C>A | CA403489692 | TICAM1 | c.1422G>T (p.Met474Ile) c.1005G>T (p.Met335Ile) c.1380G>T (p.Met460Ile) c.1287G>T (p.Met429Ile) c.780G>T (p.Met260Ile) | |
19 | g.4816956C= | CA2319605091 | TICAM1 | c.1422G= (p.Met474=) c.1005G= (p.Met335=) c.1380G= (p.Met460=) c.1287G= (p.Met429=) c.780G= (p.Met260=) | |
19 | g.4816956C>G | CA403489693 | TICAM1 | c.1422G>C (p.Met474Ile) c.1005G>C (p.Met335Ile) c.1380G>C (p.Met460Ile) c.1287G>C (p.Met429Ile) c.780G>C (p.Met260Ile) | |
19 | g.4816956C>T | CA9105142 | TICAM1 | c.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 |
19 | g.4816957A= | CA2319605092 | TICAM1 | c.1421T= (p.Met474=) c.1004T= (p.Met335=) c.1379T= (p.Met460=) c.1286T= (p.Met429=) c.779T= (p.Met260=) | |
19 | g.4816957A>C | CA403489694 | TICAM1 | c.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 |
19 | g.4816957A>G | CA403489695 | TICAM1 | c.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 |
19 | g.4816957A>T | CA403489696 | TICAM1 | c.1421T>A (p.Met474Lys) c.1004T>A (p.Met335Lys) c.1379T>A (p.Met460Lys) c.1286T>A (p.Met429Lys) c.779T>A (p.Met260Lys) | |
19 | g.4816958T>A | CA403489697 | TICAM1 | c.1420A>T (p.Met474Leu) c.1003A>T (p.Met335Leu) c.1378A>T (p.Met460Leu) c.1285A>T (p.Met429Leu) c.778A>T (p.Met260Leu) | |
19 | g.4816958T>C | CA403489701 | TICAM1 | c.1420A>G (p.Met474Val) c.1003A>G (p.Met335Val) c.1378A>G (p.Met460Val) c.1285A>G (p.Met429Val) c.778A>G (p.Met260Val) | |
19 | g.4816958T>G | CA403489699 | TICAM1 | c.1420A>C (p.Met474Leu) c.1003A>C (p.Met335Leu) c.1378A>C (p.Met460Leu) c.1285A>C (p.Met429Leu) c.778A>C (p.Met260Leu) | |
19 | g.4816959C>A | CA403489702 | TICAM1 | c.1419G>T (p.Met473Ile) c.1002G>T (p.Met334Ile) c.1377G>T (p.Met459Ile) c.1284G>T (p.Met428Ile) c.777G>T (p.Met259Ile) | |
19 | g.4816959C= | CA2319605093 | TICAM1 | c.1419G= (p.Met473=) c.1002G= (p.Met334=) c.1377G= (p.Met459=) c.1284G= (p.Met428=) c.777G= (p.Met259=) | |
19 | g.4816959C>G | CA403489704 | TICAM1 | c.1419G>C (p.Met473Ile) c.1002G>C (p.Met334Ile) c.1377G>C (p.Met459Ile) c.1284G>C (p.Met428Ile) c.777G>C (p.Met259Ile) | |
19 | g.4816959C>T | CA9105143 | TICAM1 | c.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 |
19 | g.4816960A>C | CA403489708 | TICAM1 | c.1418T>G (p.Met473Arg) c.1001T>G (p.Met334Arg) c.1376T>G (p.Met459Arg) c.1283T>G (p.Met428Arg) c.776T>G (p.Met259Arg) | |
19 | g.4816960A>G | CA403489709 | TICAM1 | c.1418T>C (p.Met473Thr) c.1001T>C (p.Met334Thr) c.1376T>C (p.Met459Thr) c.1283T>C (p.Met428Thr) c.776T>C (p.Met259Thr) | |
19 | g.4816960A>T | CA403489710 | TICAM1 | c.1418T>A (p.Met473Lys) c.1001T>A (p.Met334Lys) c.1376T>A (p.Met459Lys) c.1283T>A (p.Met428Lys) c.776T>A (p.Met259Lys) | |
19 | g.4816961T>A | CA403489711 | TICAM1 | c.1417A>T (p.Met473Leu) c.1000A>T (p.Met334Leu) c.1375A>T (p.Met459Leu) c.1282A>T (p.Met428Leu) c.775A>T (p.Met259Leu) | |
19 | g.4816961T>C | CA403489713 | TICAM1 | c.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 |
19 | g.4816961T>G | CA403489715 | TICAM1 | c.1417A>C (p.Met473Leu) c.1000A>C (p.Met334Leu) c.1375A>C (p.Met459Leu) c.1282A>C (p.Met428Leu) c.775A>C (p.Met259Leu) | |
19 | g.4816961T= | CA2319605094 | TICAM1 | c.1417A= (p.Met473=) c.1000A= (p.Met334=) c.1375A= (p.Met459=) c.1282A= (p.Met428=) c.775A= (p.Met259=) | |
19 | g.4816962G>A | CA505174238 | TICAM1 | c.1416C>T (p.Ala472=) c.999C>T (p.Ala333=) c.1374C>T (p.Ala458=) c.1281C>T (p.Ala427=) c.774C>T (p.Ala258=) | |
19 | g.4816962G>C | CA505174239 | TICAM1 | c.1416C>G (p.Ala472=) c.999C>G (p.Ala333=) c.1374C>G (p.Ala458=) c.1281C>G (p.Ala427=) c.774C>G (p.Ala258=) | |
19 | g.4816962G>T | CA505174241 | TICAM1 | c.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 |
19 | g.4816963G>A | CA403489720 | TICAM1 | c.1415C>T (p.Ala472Val) c.998C>T (p.Ala333Val) c.1373C>T (p.Ala458Val) c.1280C>T (p.Ala427Val) c.773C>T (p.Ala258Val) | |
19 | g.4816963G>C | CA403489722 | TICAM1 | c.1415C>G (p.Ala472Gly) c.998C>G (p.Ala333Gly) c.1373C>G (p.Ala458Gly) c.1280C>G (p.Ala427Gly) c.773C>G (p.Ala258Gly) | |
19 | g.4816963G>T | CA403489718 | TICAM1 | c.1415C>A (p.Ala472Asp) c.998C>A (p.Ala333Asp) c.1373C>A (p.Ala458Asp) c.1280C>A (p.Ala427Asp) c.773C>A (p.Ala258Asp) | |
19 | g.4816964C>A | CA403489725 | TICAM1 | c.1414G>T (p.Ala472Ser) c.997G>T (p.Ala333Ser) c.1372G>T (p.Ala458Ser) c.1279G>T (p.Ala427Ser) c.772G>T (p.Ala258Ser) | |
19 | g.4816964C= | CA2319605095 | TICAM1 | c.1414G= (p.Ala472=) c.997G= (p.Ala333=) c.1372G= (p.Ala458=) c.1279G= (p.Ala427=) c.772G= (p.Ala258=) | |
19 | g.4816964C>G | CA403489726 | TICAM1 | c.1414G>C (p.Ala472Pro) c.997G>C (p.Ala333Pro) c.1372G>C (p.Ala458Pro) c.1279G>C (p.Ala427Pro) c.772G>C (p.Ala258Pro) | |
19 | g.4816964C>T | CA9105144 | TICAM1 | c.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 |
19 | g.4816965T>A | CA403489730 | TICAM1 | c.1413A>T (p.Gln471His) c.996A>T (p.Gln332His) c.1371A>T (p.Gln457His) c.1278A>T (p.Gln426His) c.771A>T (p.Gln257His) | |
19 | g.4816965T>C | CA505174245 | TICAM1 | c.1413A>G (p.Gln471=) c.996A>G (p.Gln332=) c.1371A>G (p.Gln457=) c.1278A>G (p.Gln426=) c.771A>G (p.Gln257=) | |
19 | g.4816965T>G | CA403489731 | TICAM1 | c.1413A>C (p.Gln471His) c.996A>C (p.Gln332His) c.1371A>C (p.Gln457His) c.1278A>C (p.Gln426His) c.771A>C (p.Gln257His) | |
19 | g.4816966T>A | CA403489737 | TICAM1 | c.1412A>T (p.Gln471Leu) c.995A>T (p.Gln332Leu) c.1370A>T (p.Gln457Leu) c.1277A>T (p.Gln426Leu) c.770A>T (p.Gln257Leu) | |
19 | g.4816966T>C | CA403489735 | TICAM1 | c.1412A>G (p.Gln471Arg) c.995A>G (p.Gln332Arg) c.1370A>G (p.Gln457Arg) c.1277A>G (p.Gln426Arg) c.770A>G (p.Gln257Arg) | |
19 | g.4816966T>G | CA403489736 | TICAM1 | c.1412A>C (p.Gln471Pro) c.995A>C (p.Gln332Pro) c.1370A>C (p.Gln457Pro) c.1277A>C (p.Gln426Pro) c.770A>C (p.Gln257Pro) | |
19 | g.4816970_4816978del | CA2576579905 | TICAM1 | c.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) | |
19 | g.4816967G>A | CA403489740 | TICAM1 | c.1411C>T (p.Gln471Ter) c.994C>T (p.Gln332Ter) c.1369C>T (p.Gln457Ter) c.1276C>T (p.Gln426Ter) c.769C>T (p.Gln257Ter) | |
19 | g.4816967G>C | CA403489741 | TICAM1 | c.1411C>G (p.Gln471Glu) c.994C>G (p.Gln332Glu) c.1369C>G (p.Gln457Glu) c.1276C>G (p.Gln426Glu) c.769C>G (p.Gln257Glu) | |
19 | g.4816967G>T | CA403489742 | TICAM1 | c.1411C>A (p.Gln471Lys) c.994C>A (p.Gln332Lys) c.1369C>A (p.Gln457Lys) c.1276C>A (p.Gln426Lys) c.769C>A (p.Gln257Lys) | |
19 | g.4816968G>A | CA304547468 | TICAM1 | c.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 |
19 | g.4816968G>C | CA403489745 | TICAM1 | c.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 |
19 | g.4816968G= | CA2319605096 | TICAM1 | c.1410C= (p.Asn470=) c.993C= (p.Asn331=) c.1368C= (p.Asn456=) c.1275C= (p.Asn425=) c.768C= (p.Asn256=) | |
19 | g.4816968G>T | CA9105145 | TICAM1 | c.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 |
19 | g.4816969T>A | CA403489747 | TICAM1 | c.1409A>T (p.Asn470Ile) c.992A>T (p.Asn331Ile) c.1367A>T (p.Asn456Ile) c.1274A>T (p.Asn425Ile) c.767A>T (p.Asn256Ile) | |
19 | g.4816969T>C | CA403489751 | TICAM1 | c.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 |
19 | g.4816969T>G | CA403489749 | TICAM1 | c.1409A>C (p.Asn470Thr) c.992A>C (p.Asn331Thr) c.1367A>C (p.Asn456Thr) c.1274A>C (p.Asn425Thr) c.767A>C (p.Asn256Thr) | |
19 | g.4816970T>A | CA403489752 | TICAM1 | c.1408A>T (p.Asn470Tyr) c.991A>T (p.Asn331Tyr) c.1366A>T (p.Asn456Tyr) c.1273A>T (p.Asn425Tyr) c.766A>T (p.Asn256Tyr) | |
19 | g.4816970T>C | CA403489753 | TICAM1 | c.1408A>G (p.Asn470Asp) c.991A>G (p.Asn331Asp) c.1366A>G (p.Asn456Asp) c.1273A>G (p.Asn425Asp) c.766A>G (p.Asn256Asp) | |
19 | g.4816970T>G | CA403489754 | TICAM1 | c.1408A>C (p.Asn470His) c.991A>C (p.Asn331His) c.1366A>C (p.Asn456His) c.1273A>C (p.Asn425His) c.766A>C (p.Asn256His) | |
19 | g.4816971C>A | CA505174255 | TICAM1 | c.1407G>T (p.Val469=) c.990G>T (p.Val330=) c.1365G>T (p.Val455=) c.1272G>T (p.Val424=) c.765G>T (p.Val255=) | |
19 | g.4816971C>G | CA505174257 | TICAM1 | c.1407G>C (p.Val469=) c.990G>C (p.Val330=) c.1365G>C (p.Val455=) c.1272G>C (p.Val424=) c.765G>C (p.Val255=) | |
19 | g.4816971C>T | CA505174256 | TICAM1 | c.1407G>A (p.Val469=) c.990G>A (p.Val330=) c.1365G>A (p.Val455=) c.1272G>A (p.Val424=) c.765G>A (p.Val255=) | |
19 | g.4816972A>C | CA403489756 | TICAM1 | c.1406T>G (p.Val469Gly) c.989T>G (p.Val330Gly) c.1364T>G (p.Val455Gly) c.1271T>G (p.Val424Gly) c.764T>G (p.Val255Gly) | |
19 | g.4816972A>G | CA403489757 | TICAM1 | c.1406T>C (p.Val469Ala) c.989T>C (p.Val330Ala) c.1364T>C (p.Val455Ala) c.1271T>C (p.Val424Ala) c.764T>C (p.Val255Ala) | |
19 | g.4816972A>T | CA403489758 | TICAM1 | c.1406T>A (p.Val469Glu) c.989T>A (p.Val330Glu) c.1364T>A (p.Val455Glu) c.1271T>A (p.Val424Glu) c.764T>A (p.Val255Glu) | |
19 | g.4816973C>A | CA403489761 | TICAM1 | c.1405G>T (p.Val469Leu) c.988G>T (p.Val330Leu) c.1363G>T (p.Val455Leu) c.1270G>T (p.Val424Leu) c.763G>T (p.Val255Leu) | |
19 | g.4816973C= | CA2319605097 | TICAM1 | c.1405G= (p.Val469=) c.988G= (p.Val330=) c.1363G= (p.Val455=) c.1270G= (p.Val424=) c.763G= (p.Val255=) | |
19 | g.4816973C>G | CA403489762 | TICAM1 | c.1405G>C (p.Val469Leu) c.988G>C (p.Val330Leu) c.1363G>C (p.Val455Leu) c.1270G>C (p.Val424Leu) c.763G>C (p.Val255Leu) | |
19 | g.4816973C>T | CA304547477 | TICAM1 | c.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 |
19 | g.4816974C>A | CA403489766 | TICAM1 | c.1404G>T (p.Gln468His) c.987G>T (p.Gln329His) c.1362G>T (p.Gln454His) c.1269G>T (p.Gln423His) c.762G>T (p.Gln254His) | |
19 | g.4816974C>G | CA403489767 | TICAM1 | c.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 |
19 | g.4816974C>T | CA505174261 | TICAM1 | c.1404G>A (p.Gln468=) c.987G>A (p.Gln329=) c.1362G>A (p.Gln454=) c.1269G>A (p.Gln423=) c.762G>A (p.Gln254=) | |
19 | g.4816975T>A | CA403489772 | TICAM1 | c.1403A>T (p.Gln468Leu) c.986A>T (p.Gln329Leu) c.1361A>T (p.Gln454Leu) c.1268A>T (p.Gln423Leu) c.761A>T (p.Gln254Leu) | |
19 | g.4816975T>C | CA403489773 | TICAM1 | c.1403A>G (p.Gln468Arg) c.986A>G (p.Gln329Arg) c.1361A>G (p.Gln454Arg) c.1268A>G (p.Gln423Arg) c.761A>G (p.Gln254Arg) | |
19 | g.4816975T>G | CA403489770 | TICAM1 | c.1403A>C (p.Gln468Pro) c.986A>C (p.Gln329Pro) c.1361A>C (p.Gln454Pro) c.1268A>C (p.Gln423Pro) c.761A>C (p.Gln254Pro) | |
19 | g.4816976G>A | CA403489775 | TICAM1 | c.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 |
19 | g.4816976G>C | CA403489777 | TICAM1 | c.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 |
19 | g.4816976G= | CA2319605098 | TICAM1 | c.1402C= (p.Gln468=) c.985C= (p.Gln329=) c.1360C= (p.Gln454=) c.1267C= (p.Gln423=) c.760C= (p.Gln254=) | |
19 | g.4816976G>T | CA403489779 | TICAM1 | c.1402C>A (p.Gln468Lys) c.985C>A (p.Gln329Lys) c.1360C>A (p.Gln454Lys) c.1267C>A (p.Gln423Lys) c.760C>A (p.Gln254Lys) | |
19 | g.4816977G>A | CA505174265 | TICAM1 | c.1401C>T (p.His467=) c.984C>T (p.His328=) c.1359C>T (p.His453=) c.1266C>T (p.His422=) c.759C>T (p.His253=) | |
19 | g.4816977G>C | CA403489781 | TICAM1 | c.1401C>G (p.His467Gln) c.984C>G (p.His328Gln) c.1359C>G (p.His453Gln) c.1266C>G (p.His422Gln) c.759C>G (p.His253Gln) | |
19 | g.4816977G= | CA2319605099 | TICAM1 | c.1401C= (p.His467=) c.984C= (p.His328=) c.1359C= (p.His453=) c.1266C= (p.His422=) c.759C= (p.His253=) | |
19 | g.4816977G>T | CA9105146 | TICAM1 | c.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 |
19 | g.4816978T>A | CA403489785 | TICAM1 | c.1400A>T (p.His467Leu) c.983A>T (p.His328Leu) c.1358A>T (p.His453Leu) c.1265A>T (p.His422Leu) c.758A>T (p.His253Leu) | |
19 | g.4816978T>C | CA403489786 | TICAM1 | c.1400A>G (p.His467Arg) c.983A>G (p.His328Arg) c.1358A>G (p.His453Arg) c.1265A>G (p.His422Arg) c.758A>G (p.His253Arg) | |
19 | g.4816978T>G | CA403489787 | TICAM1 | c.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 |
19 | g.4816978T= | CA2319605100 | TICAM1 | c.1400A= (p.His467=) c.983A= (p.His328=) c.1358A= (p.His453=) c.1265A= (p.His422=) c.758A= (p.His253=) | |
19 | g.4816979G>A | CA403489789 | TICAM1 | c.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 |
19 | g.4816979G>C | CA403489791 | TICAM1 | c.1399C>G (p.His467Asp) c.982C>G (p.His328Asp) c.1357C>G (p.His453Asp) c.1264C>G (p.His422Asp) c.757C>G (p.His253Asp) | |
19 | g.4816979G= | CA2319605101 | TICAM1 | c.1399C= (p.His467=) c.982C= (p.His328=) c.1357C= (p.His453=) c.1264C= (p.His422=) c.757C= (p.His253=) | |
19 | g.4816979G>T | CA403489792 | TICAM1 | c.1399C>A (p.His467Asn) c.982C>A (p.His328Asn) c.1357C>A (p.His453Asn) c.1264C>A (p.His422Asn) c.757C>A (p.His253Asn) | |
19 | g.4816980C>A | CA505174270 | TICAM1 | c.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 |
19 | g.4816980C= | CA2319605102 | TICAM1 | c.1398G= (p.Leu466=) c.981G= (p.Leu327=) c.1356G= (p.Leu452=) c.1263G= (p.Leu421=) c.756G= (p.Leu252=) | |
19 | g.4816980C>G | CA505174271 | TICAM1 | c.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 |
19 | g.4816980C>T | CA505174272 | TICAM1 | c.1398G>A (p.Leu466=) c.981G>A (p.Leu327=) c.1356G>A (p.Leu452=) c.1263G>A (p.Leu421=) c.756G>A (p.Leu252=) | |
19 | g.4816981A>C | CA403489794 | TICAM1 | c.1397T>G (p.Leu466Arg) c.980T>G (p.Leu327Arg) c.1355T>G (p.Leu452Arg) c.1262T>G (p.Leu421Arg) c.755T>G (p.Leu252Arg) | |
19 | g.4816981A>G | CA403489796 | TICAM1 | c.1397T>C (p.Leu466Pro) c.980T>C (p.Leu327Pro) c.1355T>C (p.Leu452Pro) c.1262T>C (p.Leu421Pro) c.755T>C (p.Leu252Pro) | |
19 | g.4816981A>T | CA403489798 | TICAM1 | c.1397T>A (p.Leu466Gln) c.980T>A (p.Leu327Gln) c.1355T>A (p.Leu452Gln) c.1262T>A (p.Leu421Gln) c.755T>A (p.Leu252Gln) | |
19 | g.4816982G>A | CA505174274 | TICAM1 | c.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 |
19 | g.4816982G>C | CA403489801 | TICAM1 | c.1396C>G (p.Leu466Val) c.979C>G (p.Leu327Val) c.1354C>G (p.Leu452Val) c.1261C>G (p.Leu421Val) c.754C>G (p.Leu252Val) | |
19 | g.4816982G>T | CA403489802 | TICAM1 | c.1396C>A (p.Leu466Met) c.979C>A (p.Leu327Met) c.1354C>A (p.Leu452Met) c.1261C>A (p.Leu421Met) c.754C>A (p.Leu252Met) | |
19 | g.4816983G>A | CA505174276 | TICAM1 | c.1395C>T (p.Ser465=) c.978C>T (p.Ser326=) c.1353C>T (p.Ser451=) c.1260C>T (p.Ser420=) c.753C>T (p.Ser251=) | |
19 | g.4816983G>C | CA403489804 | TICAM1 | c.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 |
19 | g.4816983G>T | CA403489806 | TICAM1 | c.1395C>A (p.Ser465Arg) c.978C>A (p.Ser326Arg) c.1353C>A (p.Ser451Arg) c.1260C>A (p.Ser420Arg) c.753C>A (p.Ser251Arg) | |
19 | g.4816984C>A | CA403489807 | TICAM1 | c.1394G>T (p.Ser465Ile) c.977G>T (p.Ser326Ile) c.1352G>T (p.Ser451Ile) c.1259G>T (p.Ser420Ile) c.752G>T (p.Ser251Ile) | |
19 | g.4816984C>G | CA403489808 | TICAM1 | c.1394G>C (p.Ser465Thr) c.977G>C (p.Ser326Thr) c.1352G>C (p.Ser451Thr) c.1259G>C (p.Ser420Thr) c.752G>C (p.Ser251Thr) | |
19 | g.4816984C>T | CA403489809 | TICAM1 | c.1394G>A (p.Ser465Asn) c.977G>A (p.Ser326Asn) c.1352G>A (p.Ser451Asn) c.1259G>A (p.Ser420Asn) c.752G>A (p.Ser251Asn) | |
19 | g.4816985T>A | CA403489811 | TICAM1 | c.1393A>T (p.Ser465Cys) c.976A>T (p.Ser326Cys) c.1351A>T (p.Ser451Cys) c.1258A>T (p.Ser420Cys) c.751A>T (p.Ser251Cys) | |
19 | g.4816985T>C | CA403489813 | TICAM1 | c.1393A>G (p.Ser465Gly) c.976A>G (p.Ser326Gly) c.1351A>G (p.Ser451Gly) c.1258A>G (p.Ser420Gly) c.751A>G (p.Ser251Gly) | |
19 | g.4816985T>G | CA403489814 | TICAM1 | c.1393A>C (p.Ser465Arg) c.976A>C (p.Ser326Arg) c.1351A>C (p.Ser451Arg) c.1258A>C (p.Ser420Arg) c.751A>C (p.Ser251Arg) | |
19 | g.4816986C>A | CA505174279 | TICAM1 | c.1392G>T (p.Leu464=) c.975G>T (p.Leu325=) c.1350G>T (p.Leu450=) c.1257G>T (p.Leu419=) c.750G>T (p.Leu250=) | |
19 | g.4816986C>G | CA505174278 | TICAM1 | c.1392G>C (p.Leu464=) c.975G>C (p.Leu325=) c.1350G>C (p.Leu450=) c.1257G>C (p.Leu419=) c.750G>C (p.Leu250=) | |
19 | g.4816986C>T | CA505174277 | TICAM1 | c.1392G>A (p.Leu464=) c.975G>A (p.Leu325=) c.1350G>A (p.Leu450=) c.1257G>A (p.Leu419=) c.750G>A (p.Leu250=) | |
19 | g.4816987A>C | CA403489817 | TICAM1 | c.1391T>G (p.Leu464Arg) c.974T>G (p.Leu325Arg) c.1349T>G (p.Leu450Arg) c.1256T>G (p.Leu419Arg) c.749T>G (p.Leu250Arg) | |
19 | g.4816987A>G | CA403489819 | TICAM1 | c.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 |
19 | g.4816987A>T | CA403489820 | TICAM1 | c.1391T>A (p.Leu464Gln) c.974T>A (p.Leu325Gln) c.1349T>A (p.Leu450Gln) c.1256T>A (p.Leu419Gln) c.749T>A (p.Leu250Gln) | |
19 | g.4816988G>A | CA505174280 | TICAM1 | c.1390C>T (p.Leu464=) c.973C>T (p.Leu325=) c.1348C>T (p.Leu450=) c.1255C>T (p.Leu419=) c.748C>T (p.Leu250=) | |
19 | g.4816988G>C | CA403489821 | TICAM1 | c.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 |
19 | g.4816988G>T | CA403489823 | TICAM1 | c.1390C>A (p.Leu464Met) c.973C>A (p.Leu325Met) c.1348C>A (p.Leu450Met) c.1255C>A (p.Leu419Met) c.748C>A (p.Leu250Met) | |
19 | g.4816989G>A | CA505174281 | TICAM1 | c.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 |
19 | g.4816989G>C | CA505174282 | TICAM1 | c.1389C>G (p.Arg463=) c.972C>G (p.Arg324=) c.1347C>G (p.Arg449=) c.1254C>G (p.Arg418=) c.747C>G (p.Arg249=) | |
19 | g.4816989G>T | CA505174284 | TICAM1 | c.1389C>A (p.Arg463=) c.972C>A (p.Arg324=) c.1347C>A (p.Arg449=) c.1254C>A (p.Arg418=) c.747C>A (p.Arg249=) | |
19 | g.4816990C>A | CA403489825 | TICAM1 | c.1388G>T (p.Arg463Leu) c.971G>T (p.Arg324Leu) c.1346G>T (p.Arg449Leu) c.1253G>T (p.Arg418Leu) c.746G>T (p.Arg249Leu) | |
19 | g.4816990C= | CA2319605103 | TICAM1 | c.1388G= (p.Arg463=) c.971G= (p.Arg324=) c.1346G= (p.Arg449=) c.1253G= (p.Arg418=) c.746G= (p.Arg249=) | |
19 | g.4816990C>G | CA403489829 | TICAM1 | c.1388G>C (p.Arg463Pro) c.971G>C (p.Arg324Pro) c.1346G>C (p.Arg449Pro) c.1253G>C (p.Arg418Pro) c.746G>C (p.Arg249Pro) | |
19 | g.4816990C>T | CA403489827 | TICAM1 | c.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 |
19 | g.4816991G>A | CA403489831 | TICAM1 | c.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 |
19 | g.4816991G>C | CA403489833 | TICAM1 | c.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 |
19 | g.4816991G= | CA2319605104 | TICAM1 | c.1387C= (p.Arg463=) c.970C= (p.Arg324=) c.1345C= (p.Arg449=) c.1252C= (p.Arg418=) c.745C= (p.Arg249=) | |
19 | g.4816991G>T | CA403489835 | TICAM1 | c.1387C>A (p.Arg463Ser) c.970C>A (p.Arg324Ser) c.1345C>A (p.Arg449Ser) c.1252C>A (p.Arg418Ser) c.745C>A (p.Arg249Ser) | |
19 | g.4816992A>C | CA403489837 | TICAM1 | c.1386T>G (p.Cys462Trp) c.969T>G (p.Cys323Trp) c.1344T>G (p.Cys448Trp) c.1251T>G (p.Cys417Trp) c.744T>G (p.Cys248Trp) | |
19 | g.4816992A>G | CA505174289 | TICAM1 | c.1386T>C (p.Cys462=) c.969T>C (p.Cys323=) c.1344T>C (p.Cys448=) c.1251T>C (p.Cys417=) c.744T>C (p.Cys248=) | |
19 | g.4816992A>T | CA403489839 | TICAM1 | c.1386T>A (p.Cys462Ter) c.969T>A (p.Cys323Ter) c.1344T>A (p.Cys448Ter) c.1251T>A (p.Cys417Ter) c.744T>A (p.Cys248Ter) | |
19 | g.4816993C>A | CA403489845 | TICAM1 | c.1385G>T (p.Cys462Phe) c.968G>T (p.Cys323Phe) c.1343G>T (p.Cys448Phe) c.1250G>T (p.Cys417Phe) c.743G>T (p.Cys248Phe) | |
19 | g.4816993C>G | CA403489843 | TICAM1 | c.1385G>C (p.Cys462Ser) c.968G>C (p.Cys323Ser) c.1343G>C (p.Cys448Ser) c.1250G>C (p.Cys417Ser) c.743G>C (p.Cys248Ser) | |
19 | g.4816993C>T | CA403489842 | TICAM1 | c.1385G>A (p.Cys462Tyr) c.968G>A (p.Cys323Tyr) c.1343G>A (p.Cys448Tyr) c.1250G>A (p.Cys417Tyr) c.743G>A (p.Cys248Tyr) | |
19 | g.4816994A= | CA2319605105 | TICAM1 | c.1384T= (p.Cys462=) c.967T= (p.Cys323=) c.1342T= (p.Cys448=) c.1249T= (p.Cys417=) c.742T= (p.Cys248=) | |
19 | g.4816994A>C | CA403489848 | TICAM1 | c.1384T>G (p.Cys462Gly) c.967T>G (p.Cys323Gly) c.1342T>G (p.Cys448Gly) c.1249T>G (p.Cys417Gly) c.742T>G (p.Cys248Gly) | |
19 | g.4816994A>G | CA403489850 | TICAM1 | c.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 |
19 | g.4816994A>T | CA403489852 | TICAM1 | c.1384T>A (p.Cys462Ser) c.967T>A (p.Cys323Ser) c.1342T>A (p.Cys448Ser) c.1249T>A (p.Cys417Ser) c.742T>A (p.Cys248Ser) | |
19 | g.4816994_4817001delinsAGTCGAAG | CA2319605106 | TICAM1 | c.1377_1384delinsCTTCGACT (p.Asn459=) c.960_967delinsCTTCGACT (p.Asn320=) c.1335_1342delinsCTTCGACT (p.Asn445=) c.1242_1249delinsCTTCGACT (p.Asn414=) c.735_742delinsCTTCGACT (p.Asn245=) | |
19 | g.4816995G>A | CA505174293 | TICAM1 | c.1383C>T (p.Asp461=) c.966C>T (p.Asp322=) c.1341C>T (p.Asp447=) c.1248C>T (p.Asp416=) c.741C>T (p.Asp247=) | |
19 | g.4816995G>C | CA403489855 | TICAM1 | c.1383C>G (p.Asp461Glu) c.966C>G (p.Asp322Glu) c.1341C>G (p.Asp447Glu) c.1248C>G (p.Asp416Glu) c.741C>G (p.Asp247Glu) | |
19 | g.4816995G>T | CA403489856 | TICAM1 | c.1383C>A (p.Asp461Glu) c.966C>A (p.Asp322Glu) c.1341C>A (p.Asp447Glu) c.1248C>A (p.Asp416Glu) c.741C>A (p.Asp247Glu) | |
19 | g.4816995_4817001del | CA9105147 | TICAM1 | c.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 |