Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.4816803G>A | CA505174184 | TICAM1 | c.1575C>T (p.Ala525=) c.1158C>T (p.Ala386=) c.1533C>T (p.Ala511=) c.1440C>T (p.Ala480=) c.933C>T (p.Ala311=) | |
19 | g.4816803G>C | CA505174185 | TICAM1 | c.1575C>G (p.Ala525=) c.1158C>G (p.Ala386=) c.1533C>G (p.Ala511=) c.1440C>G (p.Ala480=) c.933C>G (p.Ala311=) | |
19 | g.4816803G>T | CA505174186 | TICAM1 | c.1575C>A (p.Ala525=) c.1158C>A (p.Ala386=) c.1533C>A (p.Ala511=) c.1440C>A (p.Ala480=) c.933C>A (p.Ala311=) | |
19 | g.4816804G>A | CA403489295 | TICAM1 | c.1574C>T (p.Ala525Val) c.1157C>T (p.Ala386Val) c.1532C>T (p.Ala511Val) c.1439C>T (p.Ala480Val) c.932C>T (p.Ala311Val) | |
19 | g.4816804G>C | CA403489296 | TICAM1 | c.1574C>G (p.Ala525Gly) c.1157C>G (p.Ala386Gly) c.1532C>G (p.Ala511Gly) c.1439C>G (p.Ala480Gly) c.932C>G (p.Ala311Gly) | |
19 | g.4816804G>T | CA403489294 | TICAM1 | c.1574C>A (p.Ala525Asp) c.1157C>A (p.Ala386Asp) c.1532C>A (p.Ala511Asp) c.1439C>A (p.Ala480Asp) c.932C>A (p.Ala311Asp) | |
19 | g.4816805C>A | CA403489297 | TICAM1 | c.1573G>T (p.Ala525Ser) c.1156G>T (p.Ala386Ser) c.1531G>T (p.Ala511Ser) c.1438G>T (p.Ala480Ser) c.931G>T (p.Ala311Ser) | |
19 | g.4816805C>G | CA403489298 | TICAM1 | c.1573G>C (p.Ala525Pro) c.1156G>C (p.Ala386Pro) c.1531G>C (p.Ala511Pro) c.1438G>C (p.Ala480Pro) c.931G>C (p.Ala311Pro) | |
19 | g.4816805C>T | CA403489299 | TICAM1 | c.1573G>A (p.Ala525Thr) c.1156G>A (p.Ala386Thr) c.1531G>A (p.Ala511Thr) c.1438G>A (p.Ala480Thr) c.931G>A (p.Ala311Thr) | |
19 | g.4816806C>A | CA505174187 | TICAM1 | c.1572G>T (p.Val524=) c.1155G>T (p.Val385=) c.1530G>T (p.Val510=) c.1437G>T (p.Val479=) c.930G>T (p.Val310=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816806C= | CA2319605028 | TICAM1 | c.1572G= (p.Val524=) c.1155G= (p.Val385=) c.1530G= (p.Val510=) c.1437G= (p.Val479=) c.930G= (p.Val310=) | |
19 | g.4816806C>G | CA505174188 | TICAM1 | c.1572G>C (p.Val524=) c.1155G>C (p.Val385=) c.1530G>C (p.Val510=) c.1437G>C (p.Val479=) c.930G>C (p.Val310=) | |
19 | g.4816806C>T | CA505174189 | TICAM1 | c.1572G>A (p.Val524=) c.1155G>A (p.Val385=) c.1530G>A (p.Val510=) c.1437G>A (p.Val479=) c.930G>A (p.Val310=) | |
19 | g.4816807A>C | CA403489300 | TICAM1 | c.1571T>G (p.Val524Gly) c.1154T>G (p.Val385Gly) c.1529T>G (p.Val510Gly) c.1436T>G (p.Val479Gly) c.929T>G (p.Val310Gly) | |
19 | g.4816807A>G | CA403489301 | TICAM1 | c.1571T>C (p.Val524Ala) c.1154T>C (p.Val385Ala) c.1529T>C (p.Val510Ala) c.1436T>C (p.Val479Ala) c.929T>C (p.Val310Ala) | |
19 | g.4816807A>T | CA403489302 | TICAM1 | c.1571T>A (p.Val524Glu) c.1154T>A (p.Val385Glu) c.1529T>A (p.Val510Glu) c.1436T>A (p.Val479Glu) c.929T>A (p.Val310Glu) | |
19 | g.4816808C>A | CA403489303 | TICAM1 | c.1570G>T (p.Val524Leu) c.1153G>T (p.Val385Leu) c.1528G>T (p.Val510Leu) c.1435G>T (p.Val479Leu) c.928G>T (p.Val310Leu) | |
19 | g.4816808C>G | CA403489305 | TICAM1 | c.1570G>C (p.Val524Leu) c.1153G>C (p.Val385Leu) c.1528G>C (p.Val510Leu) c.1435G>C (p.Val479Leu) c.928G>C (p.Val310Leu) | |
19 | g.4816808C>T | CA403489304 | TICAM1 | c.1570G>A (p.Val524Met) c.1153G>A (p.Val385Met) c.1528G>A (p.Val510Met) c.1435G>A (p.Val479Met) c.928G>A (p.Val310Met) | |
19 | g.4816809C>A | CA403489306 | TICAM1 | c.1569G>T (p.Lys523Asn) c.1152G>T (p.Lys384Asn) c.1527G>T (p.Lys509Asn) c.1434G>T (p.Lys478Asn) c.927G>T (p.Lys309Asn) | |
19 | g.4816809C= | CA2319605029 | TICAM1 | c.1569G= (p.Lys523=) c.1152G= (p.Lys384=) c.1527G= (p.Lys509=) c.1434G= (p.Lys478=) c.927G= (p.Lys309=) | |
19 | g.4816809C>G | CA403489307 | TICAM1 | c.1569G>C (p.Lys523Asn) c.1152G>C (p.Lys384Asn) c.1527G>C (p.Lys509Asn) c.1434G>C (p.Lys478Asn) c.927G>C (p.Lys309Asn) | |
19 | g.4816809C>T | CA505174193 | TICAM1 | c.1569G>A (p.Lys523=) c.1152G>A (p.Lys384=) c.1527G>A (p.Lys509=) c.1434G>A (p.Lys478=) c.927G>A (p.Lys309=) | dbSNP gnomAD v4 |
19 | g.4816810T>A | CA403489308 | TICAM1 | c.1568A>T (p.Lys523Met) c.1151A>T (p.Lys384Met) c.1526A>T (p.Lys509Met) c.1433A>T (p.Lys478Met) c.926A>T (p.Lys309Met) | |
19 | g.4816810T>C | CA403489309 | TICAM1 | c.1568A>G (p.Lys523Arg) c.1151A>G (p.Lys384Arg) c.1526A>G (p.Lys509Arg) c.1433A>G (p.Lys478Arg) c.926A>G (p.Lys309Arg) | |
19 | g.4816810T>G | CA403489310 | TICAM1 | c.1568A>C (p.Lys523Thr) c.1151A>C (p.Lys384Thr) c.1526A>C (p.Lys509Thr) c.1433A>C (p.Lys478Thr) c.926A>C (p.Lys309Thr) | |
19 | g.4816811del | CA2838556961 | TICAM1 | c.1568del (p.Lys523ArgfsTer?) c.1151del (p.Lys384ArgfsTer?) c.1526del (p.Lys509ArgfsTer?) c.1433del (p.Lys478ArgfsTer?) c.926del (p.Lys309ArgfsTer?) | |
19 | g.4816811T>A | CA403489312 | TICAM1 | c.1567A>T (p.Lys523Ter) c.1150A>T (p.Lys384Ter) c.1525A>T (p.Lys509Ter) c.1432A>T (p.Lys478Ter) c.925A>T (p.Lys309Ter) | |
19 | g.4816811T>C | CA403489313 | TICAM1 | c.1567A>G (p.Lys523Glu) c.1150A>G (p.Lys384Glu) c.1525A>G (p.Lys509Glu) c.1432A>G (p.Lys478Glu) c.925A>G (p.Lys309Glu) | |
19 | g.4816811T>G | CA403489311 | TICAM1 | c.1567A>C (p.Lys523Gln) c.1150A>C (p.Lys384Gln) c.1525A>C (p.Lys509Gln) c.1432A>C (p.Lys478Gln) c.925A>C (p.Lys309Gln) | |
19 | g.4816812C>A | CA403489314 | TICAM1 | c.1566G>T (p.Arg522Ser) c.1149G>T (p.Arg383Ser) c.1524G>T (p.Arg508Ser) c.1431G>T (p.Arg477Ser) c.924G>T (p.Arg308Ser) | |
19 | g.4816812C= | CA2319605030 | TICAM1 | c.1566G= (p.Arg522=) c.1149G= (p.Arg383=) c.1524G= (p.Arg508=) c.1431G= (p.Arg477=) c.924G= (p.Arg308=) | |
19 | g.4816812C>G | CA9105106 | TICAM1 | c.1566G>C (p.Arg522Ser) c.1149G>C (p.Arg383Ser) c.1524G>C (p.Arg508Ser) c.1431G>C (p.Arg477Ser) c.924G>C (p.Arg308Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816812C>T | CA505174194 | TICAM1 | c.1566G>A (p.Arg522=) c.1149G>A (p.Arg383=) c.1524G>A (p.Arg508=) c.1431G>A (p.Arg477=) c.924G>A (p.Arg308=) | dbSNP |
19 | g.4816813C>A | CA403489315 | TICAM1 | c.1565G>T (p.Arg522Met) c.1148G>T (p.Arg383Met) c.1523G>T (p.Arg508Met) c.1430G>T (p.Arg477Met) c.923G>T (p.Arg308Met) | |
19 | g.4816813C>G | CA403489316 | TICAM1 | c.1565G>C (p.Arg522Thr) c.1148G>C (p.Arg383Thr) c.1523G>C (p.Arg508Thr) c.1430G>C (p.Arg477Thr) c.923G>C (p.Arg308Thr) | |
19 | g.4816813C>T | CA403489317 | TICAM1 | c.1565G>A (p.Arg522Lys) c.1148G>A (p.Arg383Lys) c.1523G>A (p.Arg508Lys) c.1430G>A (p.Arg477Lys) c.923G>A (p.Arg308Lys) | |
19 | g.4816814T>A | CA403489318 | TICAM1 | c.1564A>T (p.Arg522Trp) c.1147A>T (p.Arg383Trp) c.1522A>T (p.Arg508Trp) c.1429A>T (p.Arg477Trp) c.922A>T (p.Arg308Trp) | |
19 | g.4816814T>C | CA403489319 | TICAM1 | c.1564A>G (p.Arg522Gly) c.1147A>G (p.Arg383Gly) c.1522A>G (p.Arg508Gly) c.1429A>G (p.Arg477Gly) c.922A>G (p.Arg308Gly) | ClinVar dbSNP |
19 | g.4816814T>G | CA505174195 | TICAM1 | c.1564A>C (p.Arg522=) c.1147A>C (p.Arg383=) c.1522A>C (p.Arg508=) c.1429A>C (p.Arg477=) c.922A>C (p.Arg308=) | |
19 | g.4816814T= | CA2319605031 | TICAM1 | c.1564A= (p.Arg522=) c.1147A= (p.Arg383=) c.1522A= (p.Arg508=) c.1429A= (p.Arg477=) c.922A= (p.Arg308=) | |
19 | g.4816815G>A | CA505174196 | TICAM1 | c.1563C>T (p.Ala521=) c.1146C>T (p.Ala382=) c.1521C>T (p.Ala507=) c.1428C>T (p.Ala476=) c.921C>T (p.Ala307=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816815G>C | CA505174197 | TICAM1 | c.1563C>G (p.Ala521=) c.1146C>G (p.Ala382=) c.1521C>G (p.Ala507=) c.1428C>G (p.Ala476=) c.921C>G (p.Ala307=) | |
19 | g.4816815G= | CA2319605032 | TICAM1 | c.1563C= (p.Ala521=) c.1146C= (p.Ala382=) c.1521C= (p.Ala507=) c.1428C= (p.Ala476=) c.921C= (p.Ala307=) | |
19 | g.4816815G>T | CA505174198 | TICAM1 | c.1563C>A (p.Ala521=) c.1146C>A (p.Ala382=) c.1521C>A (p.Ala507=) c.1428C>A (p.Ala476=) c.921C>A (p.Ala307=) | gnomAD v4 |
19 | g.4816816G>A | CA403489320 | TICAM1 | c.1562C>T (p.Ala521Val) c.1145C>T (p.Ala382Val) c.1520C>T (p.Ala507Val) c.1427C>T (p.Ala476Val) c.920C>T (p.Ala307Val) | |
19 | g.4816816G>C | CA403489321 | TICAM1 | c.1562C>G (p.Ala521Gly) c.1145C>G (p.Ala382Gly) c.1520C>G (p.Ala507Gly) c.1427C>G (p.Ala476Gly) c.920C>G (p.Ala307Gly) | |
19 | g.4816816G>T | CA403489322 | TICAM1 | c.1562C>A (p.Ala521Asp) c.1145C>A (p.Ala382Asp) c.1520C>A (p.Ala507Asp) c.1427C>A (p.Ala476Asp) c.920C>A (p.Ala307Asp) | gnomAD v4 |
19 | g.4816817C>A | CA9105108 | TICAM1 | c.1561G>T (p.Ala521Ser) c.1144G>T (p.Ala382Ser) c.1519G>T (p.Ala507Ser) c.1426G>T (p.Ala476Ser) c.919G>T (p.Ala307Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816817C= | CA2319605033 | TICAM1 | c.1561G= (p.Ala521=) c.1144G= (p.Ala382=) c.1519G= (p.Ala507=) c.1426G= (p.Ala476=) c.919G= (p.Ala307=) | |
19 | g.4816817C>G | CA403489323 | TICAM1 | c.1561G>C (p.Ala521Pro) c.1144G>C (p.Ala382Pro) c.1519G>C (p.Ala507Pro) c.1426G>C (p.Ala476Pro) c.919G>C (p.Ala307Pro) | gnomAD v4 |
19 | g.4816817C>T | CA9105107 | TICAM1 | c.1561G>A (p.Ala521Thr) c.1144G>A (p.Ala382Thr) c.1519G>A (p.Ala507Thr) c.1426G>A (p.Ala476Thr) c.919G>A (p.Ala307Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816818G>A | CA9105109 | TICAM1 | c.1560C>T (p.Phe520=) c.1143C>T (p.Phe381=) c.1518C>T (p.Phe506=) c.1425C>T (p.Phe475=) c.918C>T (p.Phe306=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816818G>C | CA403489325 | TICAM1 | c.1560C>G (p.Phe520Leu) c.1143C>G (p.Phe381Leu) c.1518C>G (p.Phe506Leu) c.1425C>G (p.Phe475Leu) c.918C>G (p.Phe306Leu) | |
19 | g.4816818G= | CA2319605034 | TICAM1 | c.1560C= (p.Phe520=) c.1143C= (p.Phe381=) c.1518C= (p.Phe506=) c.1425C= (p.Phe475=) c.918C= (p.Phe306=) | |
19 | g.4816818G>T | CA403489324 | TICAM1 | c.1560C>A (p.Phe520Leu) c.1143C>A (p.Phe381Leu) c.1518C>A (p.Phe506Leu) c.1425C>A (p.Phe475Leu) c.918C>A (p.Phe306Leu) | |
19 | g.4816819A>C | CA403489326 | TICAM1 | c.1559T>G (p.Phe520Cys) c.1142T>G (p.Phe381Cys) c.1517T>G (p.Phe506Cys) c.1424T>G (p.Phe475Cys) c.917T>G (p.Phe306Cys) | |
19 | g.4816819A>G | CA403489327 | TICAM1 | c.1559T>C (p.Phe520Ser) c.1142T>C (p.Phe381Ser) c.1517T>C (p.Phe506Ser) c.1424T>C (p.Phe475Ser) c.917T>C (p.Phe306Ser) | |
19 | g.4816819A>T | CA403489328 | TICAM1 | c.1559T>A (p.Phe520Tyr) c.1142T>A (p.Phe381Tyr) c.1517T>A (p.Phe506Tyr) c.1424T>A (p.Phe475Tyr) c.917T>A (p.Phe306Tyr) | |
19 | g.4816820A>C | CA403489329 | TICAM1 | c.1558T>G (p.Phe520Val) c.1141T>G (p.Phe381Val) c.1516T>G (p.Phe506Val) c.1423T>G (p.Phe475Val) c.916T>G (p.Phe306Val) | |
19 | g.4816820A>G | CA403489330 | TICAM1 | c.1558T>C (p.Phe520Leu) c.1141T>C (p.Phe381Leu) c.1516T>C (p.Phe506Leu) c.1423T>C (p.Phe475Leu) c.916T>C (p.Phe306Leu) | |
19 | g.4816820A>T | CA403489331 | TICAM1 | c.1558T>A (p.Phe520Ile) c.1141T>A (p.Phe381Ile) c.1516T>A (p.Phe506Ile) c.1423T>A (p.Phe475Ile) c.916T>A (p.Phe306Ile) | |
19 | g.4816821G>A | CA505174204 | TICAM1 | c.1557C>T (p.Ile519=) c.1140C>T (p.Ile380=) c.1515C>T (p.Ile505=) c.1422C>T (p.Ile474=) c.915C>T (p.Ile305=) | gnomAD v4 COSMIC |
19 | g.4816821G>C | CA403489332 | TICAM1 | c.1557C>G (p.Ile519Met) c.1140C>G (p.Ile380Met) c.1515C>G (p.Ile505Met) c.1422C>G (p.Ile474Met) c.915C>G (p.Ile305Met) | |
19 | g.4816821G>T | CA505174207 | TICAM1 | c.1557C>A (p.Ile519=) c.1140C>A (p.Ile380=) c.1515C>A (p.Ile505=) c.1422C>A (p.Ile474=) c.915C>A (p.Ile305=) | |
19 | g.4816822A= | CA2319605035 | TICAM1 | c.1556T= (p.Ile519=) c.1139T= (p.Ile380=) c.1514T= (p.Ile505=) c.1421T= (p.Ile474=) c.914T= (p.Ile305=) | |
19 | g.4816822A>C | CA403489333 | TICAM1 | c.1556T>G (p.Ile519Ser) c.1139T>G (p.Ile380Ser) c.1514T>G (p.Ile505Ser) c.1421T>G (p.Ile474Ser) c.914T>G (p.Ile305Ser) | |
19 | g.4816822A>G | CA403489334 | TICAM1 | c.1556T>C (p.Ile519Thr) c.1139T>C (p.Ile380Thr) c.1514T>C (p.Ile505Thr) c.1421T>C (p.Ile474Thr) c.914T>C (p.Ile305Thr) | |
19 | g.4816822A>T | CA9105110 | TICAM1 | c.1556T>A (p.Ile519Asn) c.1139T>A (p.Ile380Asn) c.1514T>A (p.Ile505Asn) c.1421T>A (p.Ile474Asn) c.914T>A (p.Ile305Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816823T>A | CA403489335 | TICAM1 | c.1555A>T (p.Ile519Phe) c.1138A>T (p.Ile380Phe) c.1513A>T (p.Ile505Phe) c.1420A>T (p.Ile474Phe) c.913A>T (p.Ile305Phe) | |
19 | g.4816823T>C | CA403489336 | TICAM1 | c.1555A>G (p.Ile519Val) c.1138A>G (p.Ile380Val) c.1513A>G (p.Ile505Val) c.1420A>G (p.Ile474Val) c.913A>G (p.Ile305Val) | |
19 | g.4816823T>G | CA403489337 | TICAM1 | c.1555A>C (p.Ile519Leu) c.1138A>C (p.Ile380Leu) c.1513A>C (p.Ile505Leu) c.1420A>C (p.Ile474Leu) c.913A>C (p.Ile305Leu) | |
19 | g.4816824C>A | CA403489339 | TICAM1 | c.1554G>T (p.Gln518His) c.1137G>T (p.Gln379His) c.1512G>T (p.Gln504His) c.1419G>T (p.Gln473His) c.912G>T (p.Gln304His) | |
19 | g.4816824C>G | CA403489338 | TICAM1 | c.1554G>C (p.Gln518His) c.1137G>C (p.Gln379His) c.1512G>C (p.Gln504His) c.1419G>C (p.Gln473His) c.912G>C (p.Gln304His) | |
19 | g.4816824C>T | CA505174208 | TICAM1 | c.1554G>A (p.Gln518=) c.1137G>A (p.Gln379=) c.1512G>A (p.Gln504=) c.1419G>A (p.Gln473=) c.912G>A (p.Gln304=) | gnomAD v4 COSMIC |
19 | g.4816825T>A | CA403489340 | TICAM1 | c.1553A>T (p.Gln518Leu) c.1136A>T (p.Gln379Leu) c.1511A>T (p.Gln504Leu) c.1418A>T (p.Gln473Leu) c.911A>T (p.Gln304Leu) | |
19 | g.4816825T>C | CA403489341 | TICAM1 | c.1553A>G (p.Gln518Arg) c.1136A>G (p.Gln379Arg) c.1511A>G (p.Gln504Arg) c.1418A>G (p.Gln473Arg) c.911A>G (p.Gln304Arg) | |
19 | g.4816825T>G | CA403489342 | TICAM1 | c.1553A>C (p.Gln518Pro) c.1136A>C (p.Gln379Pro) c.1511A>C (p.Gln504Pro) c.1418A>C (p.Gln473Pro) c.911A>C (p.Gln304Pro) | |
19 | g.4816826G>A | CA403489343 | TICAM1 | c.1552C>T (p.Gln518Ter) c.1135C>T (p.Gln379Ter) c.1510C>T (p.Gln504Ter) c.1417C>T (p.Gln473Ter) c.910C>T (p.Gln304Ter) | |
19 | g.4816826G>C | CA403489344 | TICAM1 | c.1552C>G (p.Gln518Glu) c.1135C>G (p.Gln379Glu) c.1510C>G (p.Gln504Glu) c.1417C>G (p.Gln473Glu) c.910C>G (p.Gln304Glu) | |
19 | g.4816826G>T | CA403489345 | TICAM1 | c.1552C>A (p.Gln518Lys) c.1135C>A (p.Gln379Lys) c.1510C>A (p.Gln504Lys) c.1417C>A (p.Gln473Lys) c.910C>A (p.Gln304Lys) | |
19 | g.4816827G>A | CA505174212 | TICAM1 | c.1551C>T (p.Ser517=) c.1134C>T (p.Ser378=) c.1509C>T (p.Ser503=) c.1416C>T (p.Ser472=) c.909C>T (p.Ser303=) | gnomAD v4 |
19 | g.4816827G>C | CA505174213 | TICAM1 | c.1551C>G (p.Ser517=) c.1134C>G (p.Ser378=) c.1509C>G (p.Ser503=) c.1416C>G (p.Ser472=) c.909C>G (p.Ser303=) | |
19 | g.4816827G>T | CA505174214 | TICAM1 | c.1551C>A (p.Ser517=) c.1134C>A (p.Ser378=) c.1509C>A (p.Ser503=) c.1416C>A (p.Ser472=) c.909C>A (p.Ser303=) | gnomAD v4 |
19 | g.4816828G>A | CA403489348 | TICAM1 | c.1550C>T (p.Ser517Phe) c.1133C>T (p.Ser378Phe) c.1508C>T (p.Ser503Phe) c.1415C>T (p.Ser472Phe) c.908C>T (p.Ser303Phe) | |
19 | g.4816828G>C | CA403489347 | TICAM1 | c.1550C>G (p.Ser517Cys) c.1133C>G (p.Ser378Cys) c.1508C>G (p.Ser503Cys) c.1415C>G (p.Ser472Cys) c.908C>G (p.Ser303Cys) | |
19 | g.4816828G>T | CA403489346 | TICAM1 | c.1550C>A (p.Ser517Tyr) c.1133C>A (p.Ser378Tyr) c.1508C>A (p.Ser503Tyr) c.1415C>A (p.Ser472Tyr) c.908C>A (p.Ser303Tyr) | gnomAD v4 |
19 | g.4816829A>C | CA403489349 | TICAM1 | c.1549T>G (p.Ser517Ala) c.1132T>G (p.Ser378Ala) c.1507T>G (p.Ser503Ala) c.1414T>G (p.Ser472Ala) c.907T>G (p.Ser303Ala) | |
19 | g.4816829A>G | CA403489350 | TICAM1 | c.1549T>C (p.Ser517Pro) c.1132T>C (p.Ser378Pro) c.1507T>C (p.Ser503Pro) c.1414T>C (p.Ser472Pro) c.907T>C (p.Ser303Pro) | |
19 | g.4816829A>T | CA403489351 | TICAM1 | c.1549T>A (p.Ser517Thr) c.1132T>A (p.Ser378Thr) c.1507T>A (p.Ser503Thr) c.1414T>A (p.Ser472Thr) c.907T>A (p.Ser303Thr) | |
19 | g.4816830G>A | CA9105111 | TICAM1 | c.1548C>T (p.His516=) c.1131C>T (p.His377=) c.1506C>T (p.His502=) c.1413C>T (p.His471=) c.906C>T (p.His302=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816830G>C | CA9105112 | TICAM1 | c.1548C>G (p.His516Gln) c.1131C>G (p.His377Gln) c.1506C>G (p.His502Gln) c.1413C>G (p.His471Gln) c.906C>G (p.His302Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816830G= | CA2319605036 | TICAM1 | c.1548C= (p.His516=) c.1131C= (p.His377=) c.1506C= (p.His502=) c.1413C= (p.His471=) c.906C= (p.His302=) | |
19 | g.4816830G>T | CA403489352 | TICAM1 | c.1548C>A (p.His516Gln) c.1131C>A (p.His377Gln) c.1506C>A (p.His502Gln) c.1413C>A (p.His471Gln) c.906C>A (p.His302Gln) | |
19 | g.4816831T>A | CA403489353 | TICAM1 | c.1547A>T (p.His516Leu) c.1130A>T (p.His377Leu) c.1505A>T (p.His502Leu) c.1412A>T (p.His471Leu) c.905A>T (p.His302Leu) | |
19 | g.4816831T>C | CA403489355 | TICAM1 | c.1547A>G (p.His516Arg) c.1130A>G (p.His377Arg) c.1505A>G (p.His502Arg) c.1412A>G (p.His471Arg) c.905A>G (p.His302Arg) | dbSNP gnomAD v4 |
19 | g.4816831T>G | CA403489354 | TICAM1 | c.1547A>C (p.His516Pro) c.1130A>C (p.His377Pro) c.1505A>C (p.His502Pro) c.1412A>C (p.His471Pro) c.905A>C (p.His302Pro) | |
19 | g.4816831T= | CA2319605037 | TICAM1 | c.1547A= (p.His516=) c.1130A= (p.His377=) c.1505A= (p.His502=) c.1412A= (p.His471=) c.905A= (p.His302=) | |
19 | g.4816832G>A | CA403489356 | TICAM1 | c.1546C>T (p.His516Tyr) c.1129C>T (p.His377Tyr) c.1504C>T (p.His502Tyr) c.1411C>T (p.His471Tyr) c.904C>T (p.His302Tyr) | |
19 | g.4816832G>C | CA403489357 | TICAM1 | c.1546C>G (p.His516Asp) c.1129C>G (p.His377Asp) c.1504C>G (p.His502Asp) c.1411C>G (p.His471Asp) c.904C>G (p.His302Asp) | |
19 | g.4816832G>T | CA403489358 | TICAM1 | c.1546C>A (p.His516Asn) c.1129C>A (p.His377Asn) c.1504C>A (p.His502Asn) c.1411C>A (p.His471Asn) c.904C>A (p.His302Asn) | |
19 | g.4816833T>A | CA403489359 | TICAM1 | c.1545A>T (p.Glu515Asp) c.1128A>T (p.Glu376Asp) c.1503A>T (p.Glu501Asp) c.1410A>T (p.Glu470Asp) c.903A>T (p.Glu301Asp) | |
19 | g.4816833T>C | CA505174216 | TICAM1 | c.1545A>G (p.Glu515=) c.1128A>G (p.Glu376=) c.1503A>G (p.Glu501=) c.1410A>G (p.Glu470=) c.903A>G (p.Glu301=) | |
19 | g.4816833T>G | CA403489360 | TICAM1 | c.1545A>C (p.Glu515Asp) c.1128A>C (p.Glu376Asp) c.1503A>C (p.Glu501Asp) c.1410A>C (p.Glu470Asp) c.903A>C (p.Glu301Asp) | |
19 | g.4816834T>A | CA403489361 | TICAM1 | c.1544A>T (p.Glu515Val) c.1127A>T (p.Glu376Val) c.1502A>T (p.Glu501Val) c.1409A>T (p.Glu470Val) c.902A>T (p.Glu301Val) | |
19 | g.4816834T>C | CA403489362 | TICAM1 | c.1544A>G (p.Glu515Gly) c.1127A>G (p.Glu376Gly) c.1502A>G (p.Glu501Gly) c.1409A>G (p.Glu470Gly) c.902A>G (p.Glu301Gly) | |
19 | g.4816834T>G | CA403489363 | TICAM1 | c.1544A>C (p.Glu515Ala) c.1127A>C (p.Glu376Ala) c.1502A>C (p.Glu501Ala) c.1409A>C (p.Glu470Ala) c.902A>C (p.Glu301Ala) | |
19 | g.4816835C>A | CA403489364 | TICAM1 | c.1543G>T (p.Glu515Ter) c.1126G>T (p.Glu376Ter) c.1501G>T (p.Glu501Ter) c.1408G>T (p.Glu470Ter) c.901G>T (p.Glu301Ter) | |
19 | g.4816835C>G | CA403489365 | TICAM1 | c.1543G>C (p.Glu515Gln) c.1126G>C (p.Glu376Gln) c.1501G>C (p.Glu501Gln) c.1408G>C (p.Glu470Gln) c.901G>C (p.Glu301Gln) | |
19 | g.4816835C>T | CA403489366 | TICAM1 | c.1543G>A (p.Glu515Lys) c.1126G>A (p.Glu376Lys) c.1501G>A (p.Glu501Lys) c.1408G>A (p.Glu470Lys) c.901G>A (p.Glu301Lys) | ClinVar dbSNP gnomAD v4 |
19 | g.4816836G>A | CA505174222 | TICAM1 | c.1542C>T (p.Asp514=) c.1125C>T (p.Asp375=) c.1500C>T (p.Asp500=) c.1407C>T (p.Asp469=) c.900C>T (p.Asp300=) | dbSNP gnomAD v4 |
19 | g.4816836G>C | CA403489367 | TICAM1 | c.1542C>G (p.Asp514Glu) c.1125C>G (p.Asp375Glu) c.1500C>G (p.Asp500Glu) c.1407C>G (p.Asp469Glu) c.900C>G (p.Asp300Glu) | |
19 | g.4816836G= | CA2319605038 | TICAM1 | c.1542C= (p.Asp514=) c.1125C= (p.Asp375=) c.1500C= (p.Asp500=) c.1407C= (p.Asp469=) c.900C= (p.Asp300=) | |
19 | g.4816836G>T | CA403489368 | TICAM1 | c.1542C>A (p.Asp514Glu) c.1125C>A (p.Asp375Glu) c.1500C>A (p.Asp500Glu) c.1407C>A (p.Asp469Glu) c.900C>A (p.Asp300Glu) | |
19 | g.4816837T>A | CA403489370 | TICAM1 | c.1541A>T (p.Asp514Val) c.1124A>T (p.Asp375Val) c.1499A>T (p.Asp500Val) c.1406A>T (p.Asp469Val) c.899A>T (p.Asp300Val) | |
19 | g.4816837T>C | CA403489371 | TICAM1 | c.1541A>G (p.Asp514Gly) c.1124A>G (p.Asp375Gly) c.1499A>G (p.Asp500Gly) c.1406A>G (p.Asp469Gly) c.899A>G (p.Asp300Gly) | |
19 | g.4816837T>G | CA403489369 | TICAM1 | c.1541A>C (p.Asp514Ala) c.1124A>C (p.Asp375Ala) c.1499A>C (p.Asp500Ala) c.1406A>C (p.Asp469Ala) c.899A>C (p.Asp300Ala) | dbSNP |
19 | g.4816837T= | CA2319605039 | TICAM1 | c.1541A= (p.Asp514=) c.1124A= (p.Asp375=) c.1499A= (p.Asp500=) c.1406A= (p.Asp469=) c.899A= (p.Asp300=) | |
19 | g.4816838C>A | CA403489372 | TICAM1 | c.1540G>T (p.Asp514Tyr) c.1123G>T (p.Asp375Tyr) c.1498G>T (p.Asp500Tyr) c.1405G>T (p.Asp469Tyr) c.898G>T (p.Asp300Tyr) | |
19 | g.4816838C= | CA2319605040 | TICAM1 | c.1540G= (p.Asp514=) c.1123G= (p.Asp375=) c.1498G= (p.Asp500=) c.1405G= (p.Asp469=) c.898G= (p.Asp300=) | |
19 | g.4816838C>G | CA403489373 | TICAM1 | c.1540G>C (p.Asp514His) c.1123G>C (p.Asp375His) c.1498G>C (p.Asp500His) c.1405G>C (p.Asp469His) c.898G>C (p.Asp300His) | |
19 | g.4816838C>T | CA9105113 | TICAM1 | c.1540G>A (p.Asp514Asn) c.1123G>A (p.Asp375Asn) c.1498G>A (p.Asp500Asn) c.1405G>A (p.Asp469Asn) c.898G>A (p.Asp300Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816839C>A | CA505174223 | TICAM1 | c.1539G>T (p.Leu513=) c.1122G>T (p.Leu374=) c.1497G>T (p.Leu499=) c.1404G>T (p.Leu468=) c.897G>T (p.Leu299=) | |
19 | g.4816839C>G | CA505174224 | TICAM1 | c.1539G>C (p.Leu513=) c.1122G>C (p.Leu374=) c.1497G>C (p.Leu499=) c.1404G>C (p.Leu468=) c.897G>C (p.Leu299=) | |
19 | g.4816839C>T | CA505174225 | TICAM1 | c.1539G>A (p.Leu513=) c.1122G>A (p.Leu374=) c.1497G>A (p.Leu499=) c.1404G>A (p.Leu468=) c.897G>A (p.Leu299=) | |
19 | g.4816840A>C | CA403489374 | TICAM1 | c.1538T>G (p.Leu513Arg) c.1121T>G (p.Leu374Arg) c.1496T>G (p.Leu499Arg) c.1403T>G (p.Leu468Arg) c.896T>G (p.Leu299Arg) | |
19 | g.4816840A>G | CA403489376 | TICAM1 | c.1538T>C (p.Leu513Pro) c.1121T>C (p.Leu374Pro) c.1496T>C (p.Leu499Pro) c.1403T>C (p.Leu468Pro) c.896T>C (p.Leu299Pro) | |
19 | g.4816840A>T | CA403489375 | TICAM1 | c.1538T>A (p.Leu513Gln) c.1121T>A (p.Leu374Gln) c.1496T>A (p.Leu499Gln) c.1403T>A (p.Leu468Gln) c.896T>A (p.Leu299Gln) | |
19 | g.4816841G>A | CA505174229 | TICAM1 | c.1537C>T (p.Leu513=) c.1120C>T (p.Leu374=) c.1495C>T (p.Leu499=) c.1402C>T (p.Leu468=) c.895C>T (p.Leu299=) | |
19 | g.4816841G>C | CA403489377 | TICAM1 | c.1537C>G (p.Leu513Val) c.1120C>G (p.Leu374Val) c.1495C>G (p.Leu499Val) c.1402C>G (p.Leu468Val) c.895C>G (p.Leu299Val) | |
19 | g.4816841G>T | CA403489378 | TICAM1 | c.1537C>A (p.Leu513Met) c.1120C>A (p.Leu374Met) c.1495C>A (p.Leu499Met) c.1402C>A (p.Leu468Met) c.895C>A (p.Leu299Met) | gnomAD v4 |
19 | g.4816842C>A | CA505174230 | TICAM1 | c.1536G>T (p.Arg512=) c.1119G>T (p.Arg373=) c.1494G>T (p.Arg498=) c.1401G>T (p.Arg467=) c.894G>T (p.Arg298=) | |
19 | g.4816842C= | CA2319605041 | TICAM1 | c.1536G= (p.Arg512=) c.1119G= (p.Arg373=) c.1494G= (p.Arg498=) c.1401G= (p.Arg467=) c.894G= (p.Arg298=) | |
19 | g.4816842C>G | CA505174231 | TICAM1 | c.1536G>C (p.Arg512=) c.1119G>C (p.Arg373=) c.1494G>C (p.Arg498=) c.1401G>C (p.Arg467=) c.894G>C (p.Arg298=) | |
19 | g.4816842C>T | CA9105114 | TICAM1 | c.1536G>A (p.Arg512=) c.1119G>A (p.Arg373=) c.1494G>A (p.Arg498=) c.1401G>A (p.Arg467=) c.894G>A (p.Arg298=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816843C>A | CA304547307 | TICAM1 | c.1535G>T (p.Arg512Leu) c.1118G>T (p.Arg373Leu) c.1493G>T (p.Arg498Leu) c.1400G>T (p.Arg467Leu) c.893G>T (p.Arg298Leu) | dbSNP |
19 | g.4816843C= | CA2319605042 | TICAM1 | c.1535G= (p.Arg512=) c.1118G= (p.Arg373=) c.1493G= (p.Arg498=) c.1400G= (p.Arg467=) c.893G= (p.Arg298=) | |
19 | g.4816843C>G | CA403489379 | TICAM1 | c.1535G>C (p.Arg512Pro) c.1118G>C (p.Arg373Pro) c.1493G>C (p.Arg498Pro) c.1400G>C (p.Arg467Pro) c.893G>C (p.Arg298Pro) | |
19 | g.4816843C>T | CA9105115 | TICAM1 | c.1535G>A (p.Arg512Gln) c.1118G>A (p.Arg373Gln) c.1493G>A (p.Arg498Gln) c.1400G>A (p.Arg467Gln) c.893G>A (p.Arg298Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816844G>A | CA9105116 | TICAM1 | c.1534C>T (p.Arg512Trp) c.1117C>T (p.Arg373Trp) c.1492C>T (p.Arg498Trp) c.1399C>T (p.Arg467Trp) c.892C>T (p.Arg298Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816844G>C | CA9105117 | TICAM1 | c.1534C>G (p.Arg512Gly) c.1117C>G (p.Arg373Gly) c.1492C>G (p.Arg498Gly) c.1399C>G (p.Arg467Gly) c.892C>G (p.Arg298Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816844G= | CA2319605043 | TICAM1 | c.1534C= (p.Arg512=) c.1117C= (p.Arg373=) c.1492C= (p.Arg498=) c.1399C= (p.Arg467=) c.892C= (p.Arg298=) | |
19 | g.4816844G>T | CA505174232 | TICAM1 | c.1534C>A (p.Arg512=) c.1117C>A (p.Arg373=) c.1492C>A (p.Arg498=) c.1399C>A (p.Arg467=) c.892C>A (p.Arg298=) | |
19 | g.4816845C>A | CA505174233 | TICAM1 | c.1533G>T (p.Val511=) c.1116G>T (p.Val372=) c.1491G>T (p.Val497=) c.1398G>T (p.Val466=) c.891G>T (p.Val297=) | |
19 | g.4816845C= | CA2319605044 | TICAM1 | c.1533G= (p.Val511=) c.1116G= (p.Val372=) c.1491G= (p.Val497=) c.1398G= (p.Val466=) c.891G= (p.Val297=) | |
19 | g.4816845C>G | CA505174235 | TICAM1 | c.1533G>C (p.Val511=) c.1116G>C (p.Val372=) c.1491G>C (p.Val497=) c.1398G>C (p.Val466=) c.891G>C (p.Val297=) | |
19 | g.4816845C>T | CA505174234 | TICAM1 | c.1533G>A (p.Val511=) c.1116G>A (p.Val372=) c.1491G>A (p.Val497=) c.1398G>A (p.Val466=) c.891G>A (p.Val297=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816846A>C | CA403489382 | TICAM1 | c.1532T>G (p.Val511Gly) c.1115T>G (p.Val372Gly) c.1490T>G (p.Val497Gly) c.1397T>G (p.Val466Gly) c.890T>G (p.Val297Gly) | |
19 | g.4816846A>G | CA403489381 | TICAM1 | c.1532T>C (p.Val511Ala) c.1115T>C (p.Val372Ala) c.1490T>C (p.Val497Ala) c.1397T>C (p.Val466Ala) c.890T>C (p.Val297Ala) | |
19 | g.4816846A>T | CA403489380 | TICAM1 | c.1532T>A (p.Val511Glu) c.1115T>A (p.Val372Glu) c.1490T>A (p.Val497Glu) c.1397T>A (p.Val466Glu) c.890T>A (p.Val297Glu) | |
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.4816888del | CA2838326082 | TICAM1 | c.1492del (p.Gln498SerfsTer?) c.1075del (p.Gln359SerfsTer?) c.1450del (p.Gln484SerfsTer?) c.1357del (p.Gln453SerfsTer?) c.850del (p.Gln284SerfsTer?) | |
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.4816894del | CA2838326083 | TICAM1 | c.1487del (p.Pro496ArgfsTer?) c.1070del (p.Pro357ArgfsTer?) c.1445del (p.Pro482ArgfsTer?) c.1352del (p.Pro451ArgfsTer?) c.845del (p.Pro282ArgfsTer?) | |
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.4816895del | CA2842302129 | TICAM1 | c.1483del (p.Ser495ProfsTer?) c.1066del (p.Ser356ProfsTer?) c.1441del (p.Ser481ProfsTer?) c.1348del (p.Ser450ProfsTer?) c.841del (p.Ser281ProfsTer?) | |
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) |