Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.4816847C>A | CA403489383 | TICAM1 | c.1531G>T (p.Val511Leu) c.1114G>T (p.Val372Leu) c.1489G>T (p.Val497Leu) c.1396G>T (p.Val466Leu) c.889G>T (p.Val297Leu) | |
19 | g.4816847C= | CA2319605045 | TICAM1 | c.1531G= (p.Val511=) c.1114G= (p.Val372=) c.1489G= (p.Val497=) c.1396G= (p.Val466=) c.889G= (p.Val297=) | |
19 | g.4816847C>G | CA403489384 | TICAM1 | c.1531G>C (p.Val511Leu) c.1114G>C (p.Val372Leu) c.1489G>C (p.Val497Leu) c.1396G>C (p.Val466Leu) c.889G>C (p.Val297Leu) | |
19 | g.4816847C>T | CA403489385 | TICAM1 | c.1531G>A (p.Val511Met) c.1114G>A (p.Val372Met) c.1489G>A (p.Val497Met) c.1396G>A (p.Val466Met) c.889G>A (p.Val297Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816848C>A | CA505174240 | TICAM1 | c.1530G>T (p.Leu510=) c.1113G>T (p.Leu371=) c.1488G>T (p.Leu496=) c.1395G>T (p.Leu465=) c.888G>T (p.Leu296=) | |
19 | g.4816848C>G | CA505174242 | TICAM1 | c.1530G>C (p.Leu510=) c.1113G>C (p.Leu371=) c.1488G>C (p.Leu496=) c.1395G>C (p.Leu465=) c.888G>C (p.Leu296=) | gnomAD v4 |
19 | g.4816848C>T | CA505174243 | TICAM1 | c.1530G>A (p.Leu510=) c.1113G>A (p.Leu371=) c.1488G>A (p.Leu496=) c.1395G>A (p.Leu465=) c.888G>A (p.Leu296=) | gnomAD v4 |
19 | g.4816849A>C | CA403489386 | TICAM1 | c.1529T>G (p.Leu510Arg) c.1112T>G (p.Leu371Arg) c.1487T>G (p.Leu496Arg) c.1394T>G (p.Leu465Arg) c.887T>G (p.Leu296Arg) | |
19 | g.4816849A>G | CA403489387 | TICAM1 | c.1529T>C (p.Leu510Pro) c.1112T>C (p.Leu371Pro) c.1487T>C (p.Leu496Pro) c.1394T>C (p.Leu465Pro) c.887T>C (p.Leu296Pro) | |
19 | g.4816849A>T | CA403489388 | TICAM1 | c.1529T>A (p.Leu510Gln) c.1112T>A (p.Leu371Gln) c.1487T>A (p.Leu496Gln) c.1394T>A (p.Leu465Gln) c.887T>A (p.Leu296Gln) | |
19 | g.4816850G>A | CA9105119 | TICAM1 | c.1528C>T (p.Leu510=) c.1111C>T (p.Leu371=) c.1486C>T (p.Leu496=) c.1393C>T (p.Leu465=) c.886C>T (p.Leu296=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816850G>C | CA403489389 | TICAM1 | c.1528C>G (p.Leu510Val) c.1111C>G (p.Leu371Val) c.1486C>G (p.Leu496Val) c.1393C>G (p.Leu465Val) c.886C>G (p.Leu296Val) | |
19 | g.4816850G= | CA2319605046 | TICAM1 | c.1528C= (p.Leu510=) c.1111C= (p.Leu371=) c.1486C= (p.Leu496=) c.1393C= (p.Leu465=) c.886C= (p.Leu296=) | |
19 | g.4816850G>T | CA9105118 | TICAM1 | c.1528C>A (p.Leu510Met) c.1111C>A (p.Leu371Met) c.1486C>A (p.Leu496Met) c.1393C>A (p.Leu465Met) c.886C>A (p.Leu296Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816851C>A | CA505174247 | TICAM1 | c.1527G>T (p.Gly509=) c.1110G>T (p.Gly370=) c.1485G>T (p.Gly495=) c.1392G>T (p.Gly464=) c.885G>T (p.Gly295=) | |
19 | g.4816851C>G | CA505174248 | TICAM1 | c.1527G>C (p.Gly509=) c.1110G>C (p.Gly370=) c.1485G>C (p.Gly495=) c.1392G>C (p.Gly464=) c.885G>C (p.Gly295=) | |
19 | g.4816851C>T | CA505174249 | TICAM1 | c.1527G>A (p.Gly509=) c.1110G>A (p.Gly370=) c.1485G>A (p.Gly495=) c.1392G>A (p.Gly464=) c.885G>A (p.Gly295=) | |
19 | g.4816852C>A | CA403489390 | TICAM1 | c.1526G>T (p.Gly509Val) c.1109G>T (p.Gly370Val) c.1484G>T (p.Gly495Val) c.1391G>T (p.Gly464Val) c.884G>T (p.Gly295Val) | |
19 | g.4816852C>G | CA403489391 | TICAM1 | c.1526G>C (p.Gly509Ala) c.1109G>C (p.Gly370Ala) c.1484G>C (p.Gly495Ala) c.1391G>C (p.Gly464Ala) c.884G>C (p.Gly295Ala) | gnomAD v4 |
19 | g.4816852C>T | CA403489392 | TICAM1 | c.1526G>A (p.Gly509Glu) c.1109G>A (p.Gly370Glu) c.1484G>A (p.Gly495Glu) c.1391G>A (p.Gly464Glu) c.884G>A (p.Gly295Glu) | |
19 | g.4816853C>A | CA403489393 | TICAM1 | c.1525G>T (p.Gly509Trp) c.1108G>T (p.Gly370Trp) c.1483G>T (p.Gly495Trp) c.1390G>T (p.Gly464Trp) c.883G>T (p.Gly295Trp) | |
19 | g.4816853C>G | CA403489394 | TICAM1 | c.1525G>C (p.Gly509Arg) c.1108G>C (p.Gly370Arg) c.1483G>C (p.Gly495Arg) c.1390G>C (p.Gly464Arg) c.883G>C (p.Gly295Arg) | gnomAD v4 |
19 | g.4816853C>T | CA403489395 | TICAM1 | c.1525G>A (p.Gly509Arg) c.1108G>A (p.Gly370Arg) c.1483G>A (p.Gly495Arg) c.1390G>A (p.Gly464Arg) c.883G>A (p.Gly295Arg) | gnomAD v4 |
19 | g.4816854G>A | CA9105120 | TICAM1 | c.1524C>T (p.Ser508=) c.1107C>T (p.Ser369=) c.1482C>T (p.Ser494=) c.1389C>T (p.Ser463=) c.882C>T (p.Ser294=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816854G>C | CA505174250 | TICAM1 | c.1524C>G (p.Ser508=) c.1107C>G (p.Ser369=) c.1482C>G (p.Ser494=) c.1389C>G (p.Ser463=) c.882C>G (p.Ser294=) | |
19 | g.4816854G= | CA2319605047 | TICAM1 | c.1524C= (p.Ser508=) c.1107C= (p.Ser369=) c.1482C= (p.Ser494=) c.1389C= (p.Ser463=) c.882C= (p.Ser294=) | |
19 | g.4816854G>T | CA505174251 | TICAM1 | c.1524C>A (p.Ser508=) c.1107C>A (p.Ser369=) c.1482C>A (p.Ser494=) c.1389C>A (p.Ser463=) c.882C>A (p.Ser294=) | ClinVar dbSNP gnomAD v4 |
19 | g.4816855G>A | CA403489396 | TICAM1 | c.1523C>T (p.Ser508Phe) c.1106C>T (p.Ser369Phe) c.1481C>T (p.Ser494Phe) c.1388C>T (p.Ser463Phe) c.881C>T (p.Ser294Phe) | |
19 | g.4816855G>C | CA403489397 | TICAM1 | c.1523C>G (p.Ser508Cys) c.1106C>G (p.Ser369Cys) c.1481C>G (p.Ser494Cys) c.1388C>G (p.Ser463Cys) c.881C>G (p.Ser294Cys) | |
19 | g.4816855G>T | CA403489398 | TICAM1 | c.1523C>A (p.Ser508Tyr) c.1106C>A (p.Ser369Tyr) c.1481C>A (p.Ser494Tyr) c.1388C>A (p.Ser463Tyr) c.881C>A (p.Ser294Tyr) | gnomAD v4 |
19 | g.4816856A>C | CA403489399 | TICAM1 | c.1522T>G (p.Ser508Ala) c.1105T>G (p.Ser369Ala) c.1480T>G (p.Ser494Ala) c.1387T>G (p.Ser463Ala) c.880T>G (p.Ser294Ala) | |
19 | g.4816856A>G | CA403489400 | TICAM1 | c.1522T>C (p.Ser508Pro) c.1105T>C (p.Ser369Pro) c.1480T>C (p.Ser494Pro) c.1387T>C (p.Ser463Pro) c.880T>C (p.Ser294Pro) | |
19 | g.4816856A>T | CA403489401 | TICAM1 | c.1522T>A (p.Ser508Thr) c.1105T>A (p.Ser369Thr) c.1480T>A (p.Ser494Thr) c.1387T>A (p.Ser463Thr) c.880T>A (p.Ser294Thr) | |
19 | g.4816857G>A | CA505174258 | TICAM1 | c.1521C>T (p.Leu507=) c.1104C>T (p.Leu368=) c.1479C>T (p.Leu493=) c.1386C>T (p.Leu462=) c.879C>T (p.Leu293=) | |
19 | g.4816857G>C | CA505174260 | TICAM1 | c.1521C>G (p.Leu507=) c.1104C>G (p.Leu368=) c.1479C>G (p.Leu493=) c.1386C>G (p.Leu462=) c.879C>G (p.Leu293=) | |
19 | g.4816857G>T | CA505174259 | TICAM1 | c.1521C>A (p.Leu507=) c.1104C>A (p.Leu368=) c.1479C>A (p.Leu493=) c.1386C>A (p.Leu462=) c.879C>A (p.Leu293=) | gnomAD v4 |
19 | g.4816858A>C | CA403489402 | TICAM1 | c.1520T>G (p.Leu507Arg) c.1103T>G (p.Leu368Arg) c.1478T>G (p.Leu493Arg) c.1385T>G (p.Leu462Arg) c.878T>G (p.Leu293Arg) | |
19 | g.4816858A>G | CA403489404 | TICAM1 | c.1520T>C (p.Leu507Pro) c.1103T>C (p.Leu368Pro) c.1478T>C (p.Leu493Pro) c.1385T>C (p.Leu462Pro) c.878T>C (p.Leu293Pro) | gnomAD v4 |
19 | g.4816858A>T | CA403489403 | TICAM1 | c.1520T>A (p.Leu507His) c.1103T>A (p.Leu368His) c.1478T>A (p.Leu493His) c.1385T>A (p.Leu462His) c.878T>A (p.Leu293His) | |
19 | g.4816859G>A | CA403489405 | TICAM1 | c.1519C>T (p.Leu507Phe) c.1102C>T (p.Leu368Phe) c.1477C>T (p.Leu493Phe) c.1384C>T (p.Leu462Phe) c.877C>T (p.Leu293Phe) | gnomAD v4 |
19 | g.4816859G>C | CA403489406 | TICAM1 | c.1519C>G (p.Leu507Val) c.1102C>G (p.Leu368Val) c.1477C>G (p.Leu493Val) c.1384C>G (p.Leu462Val) c.877C>G (p.Leu293Val) | |
19 | g.4816859G>T | CA403489407 | TICAM1 | c.1519C>A (p.Leu507Ile) c.1102C>A (p.Leu368Ile) c.1477C>A (p.Leu493Ile) c.1384C>A (p.Leu462Ile) c.877C>A (p.Leu293Ile) | |
19 | g.4816860C>A | CA505174263 | TICAM1 | c.1518G>T (p.Leu506=) c.1101G>T (p.Leu367=) c.1476G>T (p.Leu492=) c.1383G>T (p.Leu461=) c.876G>T (p.Leu292=) | |
19 | g.4816860C= | CA2319605048 | TICAM1 | c.1518G= (p.Leu506=) c.1101G= (p.Leu367=) c.1476G= (p.Leu492=) c.1383G= (p.Leu461=) c.876G= (p.Leu292=) | |
19 | g.4816860C>G | CA505174264 | TICAM1 | c.1518G>C (p.Leu506=) c.1101G>C (p.Leu367=) c.1476G>C (p.Leu492=) c.1383G>C (p.Leu461=) c.876G>C (p.Leu292=) | |
19 | g.4816860C>T | CA9105121 | TICAM1 | c.1518G>A (p.Leu506=) c.1101G>A (p.Leu367=) c.1476G>A (p.Leu492=) c.1383G>A (p.Leu461=) c.876G>A (p.Leu292=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816861A>C | CA403489408 | TICAM1 | c.1517T>G (p.Leu506Arg) c.1100T>G (p.Leu367Arg) c.1475T>G (p.Leu492Arg) c.1382T>G (p.Leu461Arg) c.875T>G (p.Leu292Arg) | |
19 | g.4816861A>G | CA403489409 | TICAM1 | c.1517T>C (p.Leu506Pro) c.1100T>C (p.Leu367Pro) c.1475T>C (p.Leu492Pro) c.1382T>C (p.Leu461Pro) c.875T>C (p.Leu292Pro) | |
19 | g.4816861A>T | CA403489410 | TICAM1 | c.1517T>A (p.Leu506Gln) c.1100T>A (p.Leu367Gln) c.1475T>A (p.Leu492Gln) c.1382T>A (p.Leu461Gln) c.875T>A (p.Leu292Gln) | |
19 | g.4816862G>A | CA505174266 | TICAM1 | c.1516C>T (p.Leu506=) c.1099C>T (p.Leu367=) c.1474C>T (p.Leu492=) c.1381C>T (p.Leu461=) c.874C>T (p.Leu292=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816862G>C | CA403489411 | TICAM1 | c.1516C>G (p.Leu506Val) c.1099C>G (p.Leu367Val) c.1474C>G (p.Leu492Val) c.1381C>G (p.Leu461Val) c.874C>G (p.Leu292Val) | |
19 | g.4816862G= | CA2319605049 | TICAM1 | c.1516C= (p.Leu506=) c.1099C= (p.Leu367=) c.1474C= (p.Leu492=) c.1381C= (p.Leu461=) c.874C= (p.Leu292=) | |
19 | g.4816862G>T | CA403489412 | TICAM1 | c.1516C>A (p.Leu506Met) c.1099C>A (p.Leu367Met) c.1474C>A (p.Leu492Met) c.1381C>A (p.Leu461Met) c.874C>A (p.Leu292Met) | gnomAD v4 |
19 | g.4816863G>A | CA505174268 | TICAM1 | c.1515C>T (p.Ser505=) c.1098C>T (p.Ser366=) c.1473C>T (p.Ser491=) c.1380C>T (p.Ser460=) c.873C>T (p.Ser291=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816863G>C | CA403489413 | TICAM1 | c.1515C>G (p.Ser505Arg) c.1098C>G (p.Ser366Arg) c.1473C>G (p.Ser491Arg) c.1380C>G (p.Ser460Arg) c.873C>G (p.Ser291Arg) | |
19 | g.4816863G= | CA2319605050 | TICAM1 | c.1515C= (p.Ser505=) c.1098C= (p.Ser366=) c.1473C= (p.Ser491=) c.1380C= (p.Ser460=) c.873C= (p.Ser291=) | |
19 | g.4816863G>T | CA403489414 | TICAM1 | c.1515C>A (p.Ser505Arg) c.1098C>A (p.Ser366Arg) c.1473C>A (p.Ser491Arg) c.1380C>A (p.Ser460Arg) c.873C>A (p.Ser291Arg) | |
19 | g.4816864_4816866del | CA2586031836 | TICAM1 | c.1513_1515del (p.Ser505del) c.1096_1098del (p.Ser366del) c.1471_1473del (p.Ser491del) c.1378_1380del (p.Ser460del) c.871_873del (p.Ser291del) | gnomAD v4 |
19 | g.4816864C>A | CA403489415 | TICAM1 | c.1514G>T (p.Ser505Ile) c.1097G>T (p.Ser366Ile) c.1472G>T (p.Ser491Ile) c.1379G>T (p.Ser460Ile) c.872G>T (p.Ser291Ile) | |
19 | g.4816864C>G | CA403489416 | TICAM1 | c.1514G>C (p.Ser505Thr) c.1097G>C (p.Ser366Thr) c.1472G>C (p.Ser491Thr) c.1379G>C (p.Ser460Thr) c.872G>C (p.Ser291Thr) | gnomAD v4 |
19 | g.4816864C>T | CA403489417 | TICAM1 | c.1514G>A (p.Ser505Asn) c.1097G>A (p.Ser366Asn) c.1472G>A (p.Ser491Asn) c.1379G>A (p.Ser460Asn) c.872G>A (p.Ser291Asn) | |
19 | g.4816865T>A | CA403489418 | TICAM1 | c.1513A>T (p.Ser505Cys) c.1096A>T (p.Ser366Cys) c.1471A>T (p.Ser491Cys) c.1378A>T (p.Ser460Cys) c.871A>T (p.Ser291Cys) | |
19 | g.4816865T>C | CA403489420 | TICAM1 | c.1513A>G (p.Ser505Gly) c.1096A>G (p.Ser366Gly) c.1471A>G (p.Ser491Gly) c.1378A>G (p.Ser460Gly) c.871A>G (p.Ser291Gly) | |
19 | g.4816865T>G | CA403489419 | TICAM1 | c.1513A>C (p.Ser505Arg) c.1096A>C (p.Ser366Arg) c.1471A>C (p.Ser491Arg) c.1378A>C (p.Ser460Arg) c.871A>C (p.Ser291Arg) | |
19 | g.4816866G>A | CA9105122 | TICAM1 | c.1512C>T (p.Ala504=) c.1095C>T (p.Ala365=) c.1470C>T (p.Ala490=) c.1377C>T (p.Ala459=) c.870C>T (p.Ala290=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816866G>C | CA505174275 | TICAM1 | c.1512C>G (p.Ala504=) c.1095C>G (p.Ala365=) c.1470C>G (p.Ala490=) c.1377C>G (p.Ala459=) c.870C>G (p.Ala290=) | |
19 | g.4816866G= | CA2319605051 | TICAM1 | c.1512C= (p.Ala504=) c.1095C= (p.Ala365=) c.1470C= (p.Ala490=) c.1377C= (p.Ala459=) c.870C= (p.Ala290=) | |
19 | g.4816866G>T | CA505174273 | TICAM1 | c.1512C>A (p.Ala504=) c.1095C>A (p.Ala365=) c.1470C>A (p.Ala490=) c.1377C>A (p.Ala459=) c.870C>A (p.Ala290=) | |
19 | g.4816867G>A | CA403489421 | TICAM1 | c.1511C>T (p.Ala504Val) c.1094C>T (p.Ala365Val) c.1469C>T (p.Ala490Val) c.1376C>T (p.Ala459Val) c.869C>T (p.Ala290Val) | |
19 | g.4816867G>C | CA403489422 | TICAM1 | c.1511C>G (p.Ala504Gly) c.1094C>G (p.Ala365Gly) c.1469C>G (p.Ala490Gly) c.1376C>G (p.Ala459Gly) c.869C>G (p.Ala290Gly) | |
19 | g.4816867G>T | CA403489423 | TICAM1 | c.1511C>A (p.Ala504Asp) c.1094C>A (p.Ala365Asp) c.1469C>A (p.Ala490Asp) c.1376C>A (p.Ala459Asp) c.869C>A (p.Ala290Asp) | gnomAD v4 |
19 | g.4816868C>A | CA403489424 | TICAM1 | c.1510G>T (p.Ala504Ser) c.1093G>T (p.Ala365Ser) c.1468G>T (p.Ala490Ser) c.1375G>T (p.Ala459Ser) c.868G>T (p.Ala290Ser) | |
19 | g.4816868C= | CA2319605052 | TICAM1 | c.1510G= (p.Ala504=) c.1093G= (p.Ala365=) c.1468G= (p.Ala490=) c.1375G= (p.Ala459=) c.868G= (p.Ala290=) | |
19 | g.4816868C>G | CA403489425 | TICAM1 | c.1510G>C (p.Ala504Pro) c.1093G>C (p.Ala365Pro) c.1468G>C (p.Ala490Pro) c.1375G>C (p.Ala459Pro) c.868G>C (p.Ala290Pro) | dbSNP |
19 | g.4816868C>T | CA403489426 | TICAM1 | c.1510G>A (p.Ala504Thr) c.1093G>A (p.Ala365Thr) c.1468G>A (p.Ala490Thr) c.1375G>A (p.Ala459Thr) c.868G>A (p.Ala290Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816869C>A | CA9105125 | TICAM1 | c.1509G>T (p.Thr503=) c.1092G>T (p.Thr364=) c.1467G>T (p.Thr489=) c.1374G>T (p.Thr458=) c.867G>T (p.Thr289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816869C= | CA2319605053 | TICAM1 | c.1509G= (p.Thr503=) c.1092G= (p.Thr364=) c.1467G= (p.Thr489=) c.1374G= (p.Thr458=) c.867G= (p.Thr289=) | |
19 | g.4816869C>G | CA9105124 | TICAM1 | c.1509G>C (p.Thr503=) c.1092G>C (p.Thr364=) c.1467G>C (p.Thr489=) c.1374G>C (p.Thr458=) c.867G>C (p.Thr289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816869C>T | CA9105123 | TICAM1 | c.1509G>A (p.Thr503=) c.1092G>A (p.Thr364=) c.1467G>A (p.Thr489=) c.1374G>A (p.Thr458=) c.867G>A (p.Thr289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.4816870G>A | CA403489427 | TICAM1 | c.1508C>T (p.Thr503Met) c.1091C>T (p.Thr364Met) c.1466C>T (p.Thr489Met) c.1373C>T (p.Thr458Met) c.866C>T (p.Thr289Met) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.4816870G>C | CA403489429 | TICAM1 | c.1508C>G (p.Thr503Arg) c.1091C>G (p.Thr364Arg) c.1466C>G (p.Thr489Arg) c.1373C>G (p.Thr458Arg) c.866C>G (p.Thr289Arg) | |
19 | g.4816870G= | CA2319605054 | TICAM1 | c.1508C= (p.Thr503=) c.1091C= (p.Thr364=) c.1466C= (p.Thr489=) c.1373C= (p.Thr458=) c.866C= (p.Thr289=) | |
19 | g.4816870G>T | CA403489428 | TICAM1 | c.1508C>A (p.Thr503Lys) c.1091C>A (p.Thr364Lys) c.1466C>A (p.Thr489Lys) c.1373C>A (p.Thr458Lys) c.866C>A (p.Thr289Lys) | |
19 | g.4816871T>A | CA403489430 | TICAM1 | c.1507A>T (p.Thr503Ser) c.1090A>T (p.Thr364Ser) c.1465A>T (p.Thr489Ser) c.1372A>T (p.Thr458Ser) c.865A>T (p.Thr289Ser) | dbSNP |
19 | g.4816871T>C | CA403489431 | TICAM1 | c.1507A>G (p.Thr503Ala) c.1090A>G (p.Thr364Ala) c.1465A>G (p.Thr489Ala) c.1372A>G (p.Thr458Ala) c.865A>G (p.Thr289Ala) | gnomAD v4 |
19 | g.4816871T>G | CA403489432 | TICAM1 | c.1507A>C (p.Thr503Pro) c.1090A>C (p.Thr364Pro) c.1465A>C (p.Thr489Pro) c.1372A>C (p.Thr458Pro) c.865A>C (p.Thr289Pro) | |
19 | g.4816871T= | CA2319605055 | TICAM1 | c.1507A= (p.Thr503=) c.1090A= (p.Thr364=) c.1465A= (p.Thr489=) c.1372A= (p.Thr458=) c.865A= (p.Thr289=) | |
19 | g.4816872G>A | CA304547360 | TICAM1 | c.1506C>T (p.Asp502=) c.1089C>T (p.Asp363=) c.1464C>T (p.Asp488=) c.1371C>T (p.Asp457=) c.864C>T (p.Asp288=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816872G>C | CA403489433 | TICAM1 | c.1506C>G (p.Asp502Glu) c.1089C>G (p.Asp363Glu) c.1464C>G (p.Asp488Glu) c.1371C>G (p.Asp457Glu) c.864C>G (p.Asp288Glu) | |
19 | g.4816872G= | CA2319605056 | TICAM1 | c.1506C= (p.Asp502=) c.1089C= (p.Asp363=) c.1464C= (p.Asp488=) c.1371C= (p.Asp457=) c.864C= (p.Asp288=) | |
19 | g.4816872G>T | CA403489434 | TICAM1 | c.1506C>A (p.Asp502Glu) c.1089C>A (p.Asp363Glu) c.1464C>A (p.Asp488Glu) c.1371C>A (p.Asp457Glu) c.864C>A (p.Asp288Glu) | |
19 | g.4816873T>A | CA403489437 | TICAM1 | c.1505A>T (p.Asp502Val) c.1088A>T (p.Asp363Val) c.1463A>T (p.Asp488Val) c.1370A>T (p.Asp457Val) c.863A>T (p.Asp288Val) | |
19 | g.4816873T>C | CA403489436 | TICAM1 | c.1505A>G (p.Asp502Gly) c.1088A>G (p.Asp363Gly) c.1463A>G (p.Asp488Gly) c.1370A>G (p.Asp457Gly) c.863A>G (p.Asp288Gly) | |
19 | g.4816873T>G | CA403489435 | TICAM1 | c.1505A>C (p.Asp502Ala) c.1088A>C (p.Asp363Ala) c.1463A>C (p.Asp488Ala) c.1370A>C (p.Asp457Ala) c.863A>C (p.Asp288Ala) | |
19 | g.4816874C>A | CA403489438 | TICAM1 | c.1504G>T (p.Asp502Tyr) c.1087G>T (p.Asp363Tyr) c.1462G>T (p.Asp488Tyr) c.1369G>T (p.Asp457Tyr) c.862G>T (p.Asp288Tyr) | gnomAD v4 |
19 | g.4816874C= | CA2319605057 | TICAM1 | c.1504G= (p.Asp502=) c.1087G= (p.Asp363=) c.1462G= (p.Asp488=) c.1369G= (p.Asp457=) c.862G= (p.Asp288=) | |
19 | g.4816874C>G | CA403489439 | TICAM1 | c.1504G>C (p.Asp502His) c.1087G>C (p.Asp363His) c.1462G>C (p.Asp488His) c.1369G>C (p.Asp457His) c.862G>C (p.Asp288His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816874C>T | CA9105126 | TICAM1 | c.1504G>A (p.Asp502Asn) c.1087G>A (p.Asp363Asn) c.1462G>A (p.Asp488Asn) c.1369G>A (p.Asp457Asn) c.862G>A (p.Asp288Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816875G>A | CA505174285 | TICAM1 | c.1503C>T (p.Ser501=) c.1086C>T (p.Ser362=) c.1461C>T (p.Ser487=) c.1368C>T (p.Ser456=) c.861C>T (p.Ser287=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.4816875G>C | CA505174286 | TICAM1 | c.1503C>G (p.Ser501=) c.1086C>G (p.Ser362=) c.1461C>G (p.Ser487=) c.1368C>G (p.Ser456=) c.861C>G (p.Ser287=) | |
19 | g.4816875G= | CA2319605058 | TICAM1 | c.1503C= (p.Ser501=) c.1086C= (p.Ser362=) c.1461C= (p.Ser487=) c.1368C= (p.Ser456=) c.861C= (p.Ser287=) | |
19 | g.4816875G>T | CA505174288 | TICAM1 | c.1503C>A (p.Ser501=) c.1086C>A (p.Ser362=) c.1461C>A (p.Ser487=) c.1368C>A (p.Ser456=) c.861C>A (p.Ser287=) | gnomAD v4 |
19 | g.4816876G>A | CA403489440 | TICAM1 | c.1502C>T (p.Ser501Phe) c.1085C>T (p.Ser362Phe) c.1460C>T (p.Ser487Phe) c.1367C>T (p.Ser456Phe) c.860C>T (p.Ser287Phe) | |
19 | g.4816876G>C | CA403489441 | TICAM1 | c.1502C>G (p.Ser501Cys) c.1085C>G (p.Ser362Cys) c.1460C>G (p.Ser487Cys) c.1367C>G (p.Ser456Cys) c.860C>G (p.Ser287Cys) | gnomAD v4 |
19 | g.4816876G>T | CA403489442 | TICAM1 | c.1502C>A (p.Ser501Tyr) c.1085C>A (p.Ser362Tyr) c.1460C>A (p.Ser487Tyr) c.1367C>A (p.Ser456Tyr) c.860C>A (p.Ser287Tyr) | |
19 | g.4816877A>C | CA403489443 | TICAM1 | c.1501T>G (p.Ser501Ala) c.1084T>G (p.Ser362Ala) c.1459T>G (p.Ser487Ala) c.1366T>G (p.Ser456Ala) c.859T>G (p.Ser287Ala) | |
19 | g.4816877A>G | CA403489445 | TICAM1 | c.1501T>C (p.Ser501Pro) c.1084T>C (p.Ser362Pro) c.1459T>C (p.Ser487Pro) c.1366T>C (p.Ser456Pro) c.859T>C (p.Ser287Pro) | |
19 | g.4816877A>T | CA403489444 | TICAM1 | c.1501T>A (p.Ser501Thr) c.1084T>A (p.Ser362Thr) c.1459T>A (p.Ser487Thr) c.1366T>A (p.Ser456Thr) c.859T>A (p.Ser287Thr) | |
19 | g.4816878G>A | CA505174292 | TICAM1 | c.1500C>T (p.Ser500=) c.1083C>T (p.Ser361=) c.1458C>T (p.Ser486=) c.1365C>T (p.Ser455=) c.858C>T (p.Ser286=) | dbSNP gnomAD v2 |
19 | g.4816878G>C | CA403489446 | TICAM1 | c.1500C>G (p.Ser500Arg) c.1083C>G (p.Ser361Arg) c.1458C>G (p.Ser486Arg) c.1365C>G (p.Ser455Arg) c.858C>G (p.Ser286Arg) | |
19 | g.4816878G= | CA2319605059 | TICAM1 | c.1500C= (p.Ser500=) c.1083C= (p.Ser361=) c.1458C= (p.Ser486=) c.1365C= (p.Ser455=) c.858C= (p.Ser286=) | |
19 | g.4816878G>T | CA403489447 | TICAM1 | c.1500C>A (p.Ser500Arg) c.1083C>A (p.Ser361Arg) c.1458C>A (p.Ser486Arg) c.1365C>A (p.Ser455Arg) c.858C>A (p.Ser286Arg) | gnomAD v4 |
19 | g.4816879C>A | CA403489448 | TICAM1 | c.1499G>T (p.Ser500Ile) c.1082G>T (p.Ser361Ile) c.1457G>T (p.Ser486Ile) c.1364G>T (p.Ser455Ile) c.857G>T (p.Ser286Ile) | gnomAD v4 |
19 | g.4816879C>G | CA403489449 | TICAM1 | c.1499G>C (p.Ser500Thr) c.1082G>C (p.Ser361Thr) c.1457G>C (p.Ser486Thr) c.1364G>C (p.Ser455Thr) c.857G>C (p.Ser286Thr) | |
19 | g.4816879C>T | CA403489450 | TICAM1 | c.1499G>A (p.Ser500Asn) c.1082G>A (p.Ser361Asn) c.1457G>A (p.Ser486Asn) c.1364G>A (p.Ser455Asn) c.857G>A (p.Ser286Asn) | |
19 | g.4816880T>A | CA403489451 | TICAM1 | c.1498A>T (p.Ser500Cys) c.1081A>T (p.Ser361Cys) c.1456A>T (p.Ser486Cys) c.1363A>T (p.Ser455Cys) c.856A>T (p.Ser286Cys) | |
19 | g.4816880T>C | CA403489452 | TICAM1 | c.1498A>G (p.Ser500Gly) c.1081A>G (p.Ser361Gly) c.1456A>G (p.Ser486Gly) c.1363A>G (p.Ser455Gly) c.856A>G (p.Ser286Gly) | |
19 | g.4816880T>G | CA403489453 | TICAM1 | c.1498A>C (p.Ser500Arg) c.1081A>C (p.Ser361Arg) c.1456A>C (p.Ser486Arg) c.1363A>C (p.Ser455Arg) c.856A>C (p.Ser286Arg) | |
19 | g.4816881G>A | CA505174295 | TICAM1 | c.1497C>T (p.Leu499=) c.1080C>T (p.Leu360=) c.1455C>T (p.Leu485=) c.1362C>T (p.Leu454=) c.855C>T (p.Leu285=) | |
19 | g.4816881G>C | CA505174296 | TICAM1 | c.1497C>G (p.Leu499=) c.1080C>G (p.Leu360=) c.1455C>G (p.Leu485=) c.1362C>G (p.Leu454=) c.855C>G (p.Leu285=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816881G= | CA2319605060 | TICAM1 | c.1497C= (p.Leu499=) c.1080C= (p.Leu360=) c.1455C= (p.Leu485=) c.1362C= (p.Leu454=) c.855C= (p.Leu285=) | |
19 | g.4816881G>T | CA505174297 | TICAM1 | c.1497C>A (p.Leu499=) c.1080C>A (p.Leu360=) c.1455C>A (p.Leu485=) c.1362C>A (p.Leu454=) c.855C>A (p.Leu285=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816882A>C | CA403489454 | TICAM1 | c.1496T>G (p.Leu499Arg) c.1079T>G (p.Leu360Arg) c.1454T>G (p.Leu485Arg) c.1361T>G (p.Leu454Arg) c.854T>G (p.Leu285Arg) | |
19 | g.4816882A>G | CA403489455 | TICAM1 | c.1496T>C (p.Leu499Pro) c.1079T>C (p.Leu360Pro) c.1454T>C (p.Leu485Pro) c.1361T>C (p.Leu454Pro) c.854T>C (p.Leu285Pro) | |
19 | g.4816882A>T | CA403489456 | TICAM1 | c.1496T>A (p.Leu499His) c.1079T>A (p.Leu360His) c.1454T>A (p.Leu485His) c.1361T>A (p.Leu454His) c.854T>A (p.Leu285His) | |
19 | g.4816883G>A | CA403489457 | TICAM1 | c.1495C>T (p.Leu499Phe) c.1078C>T (p.Leu360Phe) c.1453C>T (p.Leu485Phe) c.1360C>T (p.Leu454Phe) c.853C>T (p.Leu285Phe) | |
19 | g.4816883G>C | CA403489459 | TICAM1 | c.1495C>G (p.Leu499Val) c.1078C>G (p.Leu360Val) c.1453C>G (p.Leu485Val) c.1360C>G (p.Leu454Val) c.853C>G (p.Leu285Val) | gnomAD v4 |
19 | g.4816883G>T | CA403489458 | TICAM1 | c.1495C>A (p.Leu499Ile) c.1078C>A (p.Leu360Ile) c.1453C>A (p.Leu485Ile) c.1360C>A (p.Leu454Ile) c.853C>A (p.Leu285Ile) | |
19 | g.4816884C>A | CA403489460 | TICAM1 | c.1494G>T (p.Gln498His) c.1077G>T (p.Gln359His) c.1452G>T (p.Gln484His) c.1359G>T (p.Gln453His) c.852G>T (p.Gln284His) | |
19 | g.4816884C>G | CA403489461 | TICAM1 | c.1494G>C (p.Gln498His) c.1077G>C (p.Gln359His) c.1452G>C (p.Gln484His) c.1359G>C (p.Gln453His) c.852G>C (p.Gln284His) | |
19 | g.4816884C>T | CA505174302 | TICAM1 | c.1494G>A (p.Gln498=) c.1077G>A (p.Gln359=) c.1452G>A (p.Gln484=) c.1359G>A (p.Gln453=) c.852G>A (p.Gln284=) | |
19 | g.4816885T>A | CA403489462 | TICAM1 | c.1493A>T (p.Gln498Leu) c.1076A>T (p.Gln359Leu) c.1451A>T (p.Gln484Leu) c.1358A>T (p.Gln453Leu) c.851A>T (p.Gln284Leu) | |
19 | g.4816885T>C | CA403489463 | TICAM1 | c.1493A>G (p.Gln498Arg) c.1076A>G (p.Gln359Arg) c.1451A>G (p.Gln484Arg) c.1358A>G (p.Gln453Arg) c.851A>G (p.Gln284Arg) | |
19 | g.4816885T>G | CA403489464 | TICAM1 | c.1493A>C (p.Gln498Pro) c.1076A>C (p.Gln359Pro) c.1451A>C (p.Gln484Pro) c.1358A>C (p.Gln453Pro) c.851A>C (p.Gln284Pro) | |
19 | g.4816886G>A | CA403489465 | TICAM1 | c.1492C>T (p.Gln498Ter) c.1075C>T (p.Gln359Ter) c.1450C>T (p.Gln484Ter) c.1357C>T (p.Gln453Ter) c.850C>T (p.Gln284Ter) | |
19 | g.4816886G>C | CA403489466 | TICAM1 | c.1492C>G (p.Gln498Glu) c.1075C>G (p.Gln359Glu) c.1450C>G (p.Gln484Glu) c.1357C>G (p.Gln453Glu) c.850C>G (p.Gln284Glu) | |
19 | g.4816886G>T | CA403489467 | TICAM1 | c.1492C>A (p.Gln498Lys) c.1075C>A (p.Gln359Lys) c.1450C>A (p.Gln484Lys) c.1357C>A (p.Gln453Lys) c.850C>A (p.Gln284Lys) | |
19 | g.4816887G>A | CA505174307 | TICAM1 | c.1491C>T (p.Ala497=) c.1074C>T (p.Ala358=) c.1449C>T (p.Ala483=) c.1356C>T (p.Ala452=) c.849C>T (p.Ala283=) | |
19 | g.4816887G>C | CA505174309 | TICAM1 | c.1491C>G (p.Ala497=) c.1074C>G (p.Ala358=) c.1449C>G (p.Ala483=) c.1356C>G (p.Ala452=) c.849C>G (p.Ala283=) | |
19 | g.4816887G>T | CA505174308 | TICAM1 | c.1491C>A (p.Ala497=) c.1074C>A (p.Ala358=) c.1449C>A (p.Ala483=) c.1356C>A (p.Ala452=) c.849C>A (p.Ala283=) | |
19 | g.4816888G>A | CA403489468 | TICAM1 | c.1490C>T (p.Ala497Val) c.1073C>T (p.Ala358Val) c.1448C>T (p.Ala483Val) c.1355C>T (p.Ala452Val) c.848C>T (p.Ala283Val) | |
19 | g.4816888G>C | CA403489469 | TICAM1 | c.1490C>G (p.Ala497Gly) c.1073C>G (p.Ala358Gly) c.1448C>G (p.Ala483Gly) c.1355C>G (p.Ala452Gly) c.848C>G (p.Ala283Gly) | |
19 | g.4816888G>T | CA403489470 | TICAM1 | c.1490C>A (p.Ala497Asp) c.1073C>A (p.Ala358Asp) c.1448C>A (p.Ala483Asp) c.1355C>A (p.Ala452Asp) c.848C>A (p.Ala283Asp) | |
19 | g.4816889C>A | CA403489473 | TICAM1 | c.1489G>T (p.Ala497Ser) c.1072G>T (p.Ala358Ser) c.1447G>T (p.Ala483Ser) c.1354G>T (p.Ala452Ser) c.847G>T (p.Ala283Ser) | |
19 | g.4816889C>G | CA403489472 | TICAM1 | c.1489G>C (p.Ala497Pro) c.1072G>C (p.Ala358Pro) c.1447G>C (p.Ala483Pro) c.1354G>C (p.Ala452Pro) c.847G>C (p.Ala283Pro) | |
19 | g.4816889C>T | CA403489471 | TICAM1 | c.1489G>A (p.Ala497Thr) c.1072G>A (p.Ala358Thr) c.1447G>A (p.Ala483Thr) c.1354G>A (p.Ala452Thr) c.847G>A (p.Ala283Thr) | ClinVar dbSNP |
19 | g.4816890C>A | CA505174314 | TICAM1 | c.1488G>T (p.Pro496=) c.1071G>T (p.Pro357=) c.1446G>T (p.Pro482=) c.1353G>T (p.Pro451=) c.846G>T (p.Pro282=) | |
19 | g.4816890C= | CA2319605061 | TICAM1 | c.1488G= (p.Pro496=) c.1071G= (p.Pro357=) c.1446G= (p.Pro482=) c.1353G= (p.Pro451=) c.846G= (p.Pro282=) | |
19 | g.4816890C>G | CA505174315 | TICAM1 | c.1488G>C (p.Pro496=) c.1071G>C (p.Pro357=) c.1446G>C (p.Pro482=) c.1353G>C (p.Pro451=) c.846G>C (p.Pro282=) | ClinVar dbSNP gnomAD v4 |
19 | g.4816890C>T | CA9105127 | TICAM1 | c.1488G>A (p.Pro496=) c.1071G>A (p.Pro357=) c.1446G>A (p.Pro482=) c.1353G>A (p.Pro451=) c.846G>A (p.Pro282=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.4816891G>A | CA403489474 | TICAM1 | c.1487C>T (p.Pro496Leu) c.1070C>T (p.Pro357Leu) c.1445C>T (p.Pro482Leu) c.1352C>T (p.Pro451Leu) c.845C>T (p.Pro282Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816891G>C | CA403489475 | TICAM1 | c.1487C>G (p.Pro496Arg) c.1070C>G (p.Pro357Arg) c.1445C>G (p.Pro482Arg) c.1352C>G (p.Pro451Arg) c.845C>G (p.Pro282Arg) | dbSNP gnomAD v4 |
19 | g.4816891G= | CA2319605062 | TICAM1 | c.1487C= (p.Pro496=) c.1070C= (p.Pro357=) c.1445C= (p.Pro482=) c.1352C= (p.Pro451=) c.845C= (p.Pro282=) | |
19 | g.4816891G>T | CA403489476 | TICAM1 | c.1487C>A (p.Pro496Gln) c.1070C>A (p.Pro357Gln) c.1445C>A (p.Pro482Gln) c.1352C>A (p.Pro451Gln) c.845C>A (p.Pro282Gln) | gnomAD v4 |
19 | g.4816892G>A | CA304547375 | TICAM1 | c.1486C>T (p.Pro496Ser) c.1069C>T (p.Pro357Ser) c.1444C>T (p.Pro482Ser) c.1351C>T (p.Pro451Ser) c.844C>T (p.Pro282Ser) | dbSNP gnomAD v4 |
19 | g.4816892G>C | CA403489477 | TICAM1 | c.1486C>G (p.Pro496Ala) c.1069C>G (p.Pro357Ala) c.1444C>G (p.Pro482Ala) c.1351C>G (p.Pro451Ala) c.844C>G (p.Pro282Ala) | gnomAD v4 |
19 | g.4816892G= | CA2319605063 | TICAM1 | c.1486C= (p.Pro496=) c.1069C= (p.Pro357=) c.1444C= (p.Pro482=) c.1351C= (p.Pro451=) c.844C= (p.Pro282=) | |
19 | g.4816892G>T | CA403489478 | TICAM1 | c.1486C>A (p.Pro496Thr) c.1069C>A (p.Pro357Thr) c.1444C>A (p.Pro482Thr) c.1351C>A (p.Pro451Thr) c.844C>A (p.Pro282Thr) | |
19 | g.4816893G>A | CA9105128 | TICAM1 | c.1485C>T (p.Ser495=) c.1068C>T (p.Ser356=) c.1443C>T (p.Ser481=) c.1350C>T (p.Ser450=) c.843C>T (p.Ser281=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816893G>C | CA505174322 | TICAM1 | c.1485C>G (p.Ser495=) c.1068C>G (p.Ser356=) c.1443C>G (p.Ser481=) c.1350C>G (p.Ser450=) c.843C>G (p.Ser281=) | |
19 | g.4816893G= | CA2319605064 | TICAM1 | c.1485C= (p.Ser495=) c.1068C= (p.Ser356=) c.1443C= (p.Ser481=) c.1350C= (p.Ser450=) c.843C= (p.Ser281=) | |
19 | g.4816893G>T | CA505174324 | TICAM1 | c.1485C>A (p.Ser495=) c.1068C>A (p.Ser356=) c.1443C>A (p.Ser481=) c.1350C>A (p.Ser450=) c.843C>A (p.Ser281=) | |
19 | g.4816894G>A | CA403489479 | TICAM1 | c.1484C>T (p.Ser495Phe) c.1067C>T (p.Ser356Phe) c.1442C>T (p.Ser481Phe) c.1349C>T (p.Ser450Phe) c.842C>T (p.Ser281Phe) | |
19 | g.4816894G>C | CA403489480 | TICAM1 | c.1484C>G (p.Ser495Cys) c.1067C>G (p.Ser356Cys) c.1442C>G (p.Ser481Cys) c.1349C>G (p.Ser450Cys) c.842C>G (p.Ser281Cys) | gnomAD v4 |
19 | g.4816894G>T | CA403489481 | TICAM1 | c.1484C>A (p.Ser495Tyr) c.1067C>A (p.Ser356Tyr) c.1442C>A (p.Ser481Tyr) c.1349C>A (p.Ser450Tyr) c.842C>A (p.Ser281Tyr) | |
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=) |