| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.11031230C>A | CA16617801 | SLC6A1 | c.1449C>A (p.Ser483Arg) c.1377C>A (p.Ser459Arg) c.1017C>A (p.Ser339Arg) c.1404C>A (p.Ser468Arg) c.843C>A (p.Ser281Arg) c.*760C>A (n.*760C>A) c.1171C>A c.954C>A (p.Ser318Arg) n.430C>A n.3745C>A c.1078+4871C>A (n.1078+4871C>A) | ClinVar dbSNP |
| 3 | g.11031230C= | CA1345477238 | SLC6A1 | c.1449C= (p.Ser483=) c.1377C= (p.Ser459=) c.1017C= (p.Ser339=) c.1404C= (p.Ser468=) c.843C= (p.Ser281=) c.*760C= (n.*760C=) c.1171C= c.954C= (p.Ser318=) n.430C= n.3745C= c.1078+4871C= (n.1078+4871C=) | |
| 3 | g.11031230C>G | CA351791465 | SLC6A1 | c.1449C>G (p.Ser483Arg) c.1377C>G (p.Ser459Arg) c.1017C>G (p.Ser339Arg) c.1404C>G (p.Ser468Arg) c.843C>G (p.Ser281Arg) c.*760C>G (n.*760C>G) c.1171C>G c.954C>G (p.Ser318Arg) n.430C>G n.3745C>G c.1078+4871C>G (n.1078+4871C>G) | ClinVar dbSNP |
| 3 | g.11031230C>T | CA432446657 | SLC6A1 | c.1449C>T (p.Ser483=) c.1377C>T (p.Ser459=) c.1017C>T (p.Ser339=) c.1404C>T (p.Ser468=) c.843C>T (p.Ser281=) c.*760C>T (n.*760C>T) c.1171C>T c.954C>T (p.Ser318=) n.430C>T n.3745C>T c.1078+4871C>T (n.1078+4871C>T) | gnomAD v4 |
| 3 | g.11031231C>A | CA351791466 | SLC6A1 | c.1450C>A (p.Leu484Met) c.1378C>A (p.Leu460Met) c.1018C>A (p.Leu340Met) c.1405C>A (p.Leu469Met) c.844C>A (p.Leu282Met) c.*761C>A (n.*761C>A) c.1172C>A c.955C>A (p.Leu319Met) n.431C>A n.3746C>A c.1078+4872C>A (n.1078+4872C>A) | |
| 3 | g.11031231C= | CA1345477239 | SLC6A1 | c.1450C= (p.Leu484=) c.1378C= (p.Leu460=) c.1018C= (p.Leu340=) c.1405C= (p.Leu469=) c.844C= (p.Leu282=) c.*761C= (n.*761C=) c.1172C= c.955C= (p.Leu319=) n.431C= n.3746C= c.1078+4872C= (n.1078+4872C=) | |
| 3 | g.11031231C>G | CA351791467 | SLC6A1 | c.1450C>G (p.Leu484Val) c.1378C>G (p.Leu460Val) c.1018C>G (p.Leu340Val) c.1405C>G (p.Leu469Val) c.844C>G (p.Leu282Val) c.*761C>G (n.*761C>G) c.1172C>G c.955C>G (p.Leu319Val) n.431C>G n.3746C>G c.1078+4872C>G (n.1078+4872C>G) | |
| 3 | g.11031231C>T | CA432446658 | SLC6A1 | c.1450C>T (p.Leu484=) c.1378C>T (p.Leu460=) c.1018C>T (p.Leu340=) c.1405C>T (p.Leu469=) c.844C>T (p.Leu282=) c.*761C>T (n.*761C>T) c.1172C>T c.955C>T (p.Leu319=) n.431C>T n.3746C>T c.1078+4872C>T (n.1078+4872C>T) | dbSNP |
| 3 | g.11031232T>A | CA351791468 | SLC6A1 | c.1451T>A (p.Leu484Gln) c.1379T>A (p.Leu460Gln) c.1019T>A (p.Leu340Gln) c.1406T>A (p.Leu469Gln) c.845T>A (p.Leu282Gln) c.*762T>A (n.*762T>A) c.1173T>A c.956T>A (p.Leu319Gln) n.432T>A n.3747T>A c.1078+4873T>A (n.1078+4873T>A) | |
| 3 | g.11031232T>C | CA351791469 | SLC6A1 | c.1451T>C (p.Leu484Pro) c.1379T>C (p.Leu460Pro) c.1019T>C (p.Leu340Pro) c.1406T>C (p.Leu469Pro) c.845T>C (p.Leu282Pro) c.*762T>C (n.*762T>C) c.1173T>C c.956T>C (p.Leu319Pro) n.432T>C n.3747T>C c.1078+4873T>C (n.1078+4873T>C) | |
| 3 | g.11031232T>G | CA351791470 | SLC6A1 | c.1451T>G (p.Leu484Arg) c.1379T>G (p.Leu460Arg) c.1019T>G (p.Leu340Arg) c.1406T>G (p.Leu469Arg) c.845T>G (p.Leu282Arg) c.*762T>G (n.*762T>G) c.1173T>G c.956T>G (p.Leu319Arg) n.432T>G n.3747T>G c.1078+4873T>G (n.1078+4873T>G) | |
| 3 | g.11031233G>A | CA432446659 | SLC6A1 | c.1452G>A (p.Leu484=) c.1380G>A (p.Leu460=) c.1020G>A (p.Leu340=) c.1407G>A (p.Leu469=) c.846G>A (p.Leu282=) c.*763G>A (n.*763G>A) c.1174G>A c.957G>A (p.Leu319=) n.433G>A n.3748G>A c.1078+4874G>A (n.1078+4874G>A) | ClinVar gnomAD v4 |
| 3 | g.11031233G>C | CA432446661 | SLC6A1 | c.1452G>C (p.Leu484=) c.1380G>C (p.Leu460=) c.1020G>C (p.Leu340=) c.1407G>C (p.Leu469=) c.846G>C (p.Leu282=) c.*763G>C (n.*763G>C) c.1174G>C c.957G>C (p.Leu319=) n.433G>C n.3748G>C c.1078+4874G>C (n.1078+4874G>C) | |
| 3 | g.11031233G>T | CA432446660 | SLC6A1 | c.1452G>T (p.Leu484=) c.1380G>T (p.Leu460=) c.1020G>T (p.Leu340=) c.1407G>T (p.Leu469=) c.846G>T (p.Leu282=) c.*763G>T (n.*763G>T) c.1174G>T c.957G>T (p.Leu319=) n.433G>T n.3748G>T c.1078+4874G>T (n.1078+4874G>T) | |
| 3 | g.11031234C>A | CA351791471 | SLC6A1 | c.1453C>A (p.Leu485Met) c.1381C>A (p.Leu461Met) c.1021C>A (p.Leu341Met) c.1408C>A (p.Leu470Met) c.847C>A (p.Leu283Met) c.*764C>A (n.*764C>A) c.1175C>A c.958C>A (p.Leu320Met) n.434C>A n.3749C>A c.1078+4875C>A (n.1078+4875C>A) | |
| 3 | g.11031234C>G | CA351791472 | SLC6A1 | c.1453C>G (p.Leu485Val) c.1381C>G (p.Leu461Val) c.1021C>G (p.Leu341Val) c.1408C>G (p.Leu470Val) c.847C>G (p.Leu283Val) c.*764C>G (n.*764C>G) c.1175C>G c.958C>G (p.Leu320Val) n.434C>G n.3749C>G c.1078+4875C>G (n.1078+4875C>G) | |
| 3 | g.11031234C>T | CA432446662 | SLC6A1 | c.1453C>T (p.Leu485=) c.1381C>T (p.Leu461=) c.1021C>T (p.Leu341=) c.1408C>T (p.Leu470=) c.847C>T (p.Leu283=) c.*764C>T (n.*764C>T) c.1175C>T c.958C>T (p.Leu320=) n.434C>T n.3749C>T c.1078+4875C>T (n.1078+4875C>T) | COSMIC |
| 3 | g.11031235T>A | CA351791473 | SLC6A1 | c.1454T>A (p.Leu485Gln) c.1382T>A (p.Leu461Gln) c.1022T>A (p.Leu341Gln) c.1409T>A (p.Leu470Gln) c.848T>A (p.Leu283Gln) c.*765T>A (n.*765T>A) c.1176T>A c.959T>A (p.Leu320Gln) n.435T>A n.3750T>A c.1078+4876T>A (n.1078+4876T>A) | |
| 3 | g.11031235T>C | CA351791474 | SLC6A1 | c.1454T>C (p.Leu485Pro) c.1382T>C (p.Leu461Pro) c.1022T>C (p.Leu341Pro) c.1409T>C (p.Leu470Pro) c.848T>C (p.Leu283Pro) c.*765T>C (n.*765T>C) c.1176T>C c.959T>C (p.Leu320Pro) n.435T>C n.3750T>C c.1078+4876T>C (n.1078+4876T>C) | |
| 3 | g.11031235T>G | CA351791475 | SLC6A1 | c.1454T>G (p.Leu485Arg) c.1382T>G (p.Leu461Arg) c.1022T>G (p.Leu341Arg) c.1409T>G (p.Leu470Arg) c.848T>G (p.Leu283Arg) c.*765T>G (n.*765T>G) c.1176T>G c.959T>G (p.Leu320Arg) n.435T>G n.3750T>G c.1078+4876T>G (n.1078+4876T>G) | |
| 3 | g.11031236G>A | CA432446663 | SLC6A1 | c.1455G>A (p.Leu485=) c.1383G>A (p.Leu461=) c.1023G>A (p.Leu341=) c.1410G>A (p.Leu470=) c.849G>A (p.Leu283=) c.*766G>A (n.*766G>A) c.1177G>A c.960G>A (p.Leu320=) n.436G>A n.3751G>A c.1078+4877G>A (n.1078+4877G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.11031236G>C | CA432446664 | SLC6A1 | c.1455G>C (p.Leu485=) c.1383G>C (p.Leu461=) c.1023G>C (p.Leu341=) c.1410G>C (p.Leu470=) c.849G>C (p.Leu283=) c.*766G>C (n.*766G>C) c.1177G>C c.960G>C (p.Leu320=) n.436G>C n.3751G>C c.1078+4877G>C (n.1078+4877G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.11031236G= | CA1345477240 | SLC6A1 | c.1455G= (p.Leu485=) c.1383G= (p.Leu461=) c.1023G= (p.Leu341=) c.1410G= (p.Leu470=) c.849G= (p.Leu283=) c.*766G= (n.*766G=) c.1177G= c.960G= (p.Leu320=) n.436G= n.3751G= c.1078+4877G= (n.1078+4877G=) | |
| 3 | g.11031236G>T | CA432446665 | SLC6A1 | c.1455G>T (p.Leu485=) c.1383G>T (p.Leu461=) c.1023G>T (p.Leu341=) c.1410G>T (p.Leu470=) c.849G>T (p.Leu283=) c.*766G>T (n.*766G>T) c.1177G>T c.960G>T (p.Leu320=) n.436G>T n.3751G>T c.1078+4877G>T (n.1078+4877G>T) | |
| 3 | g.11031237T>A | CA351791476 | SLC6A1 | c.1456T>A (p.Phe486Ile) c.1384T>A (p.Phe462Ile) c.1024T>A (p.Phe342Ile) c.1411T>A (p.Phe471Ile) c.850T>A (p.Phe284Ile) c.*767T>A (n.*767T>A) c.1178T>A c.961T>A (p.Phe321Ile) n.437T>A n.3752T>A c.1078+4878T>A (n.1078+4878T>A) | |
| 3 | g.11031237T>C | CA351791477 | SLC6A1 | c.1456T>C (p.Phe486Leu) c.1384T>C (p.Phe462Leu) c.1024T>C (p.Phe342Leu) c.1411T>C (p.Phe471Leu) c.850T>C (p.Phe284Leu) c.*767T>C (n.*767T>C) c.1178T>C c.961T>C (p.Phe321Leu) n.437T>C n.3752T>C c.1078+4878T>C (n.1078+4878T>C) | |
| 3 | g.11031237T>G | CA351791478 | SLC6A1 | c.1456T>G (p.Phe486Val) c.1384T>G (p.Phe462Val) c.1024T>G (p.Phe342Val) c.1411T>G (p.Phe471Val) c.850T>G (p.Phe284Val) c.*767T>G (n.*767T>G) c.1178T>G c.961T>G (p.Phe321Val) n.437T>G n.3752T>G c.1078+4878T>G (n.1078+4878T>G) | |
| 3 | g.11031238T>A | CA351791481 | SLC6A1 | c.1457T>A (p.Phe486Tyr) c.1385T>A (p.Phe462Tyr) c.1025T>A (p.Phe342Tyr) c.1412T>A (p.Phe471Tyr) c.851T>A (p.Phe284Tyr) c.*768T>A (n.*768T>A) c.1179T>A c.962T>A (p.Phe321Tyr) n.438T>A n.3753T>A c.1078+4879T>A (n.1078+4879T>A) | |
| 3 | g.11031238T>C | CA351791479 | SLC6A1 | c.1457T>C (p.Phe486Ser) c.1385T>C (p.Phe462Ser) c.1025T>C (p.Phe342Ser) c.1412T>C (p.Phe471Ser) c.851T>C (p.Phe284Ser) c.*768T>C (n.*768T>C) c.1179T>C c.962T>C (p.Phe321Ser) n.438T>C n.3753T>C c.1078+4879T>C (n.1078+4879T>C) | |
| 3 | g.11031238T>G | CA351791480 | SLC6A1 | c.1457T>G (p.Phe486Cys) c.1385T>G (p.Phe462Cys) c.1025T>G (p.Phe342Cys) c.1412T>G (p.Phe471Cys) c.851T>G (p.Phe284Cys) c.*768T>G (n.*768T>G) c.1179T>G c.962T>G (p.Phe321Cys) n.438T>G n.3753T>G c.1078+4879T>G (n.1078+4879T>G) | |
| 3 | g.11031239C>A | CA351791482 | SLC6A1 | c.1458C>A (p.Phe486Leu) c.1386C>A (p.Phe462Leu) c.1026C>A (p.Phe342Leu) c.1413C>A (p.Phe471Leu) c.852C>A (p.Phe284Leu) c.*769C>A (n.*769C>A) c.1180C>A c.963C>A (p.Phe321Leu) n.439C>A n.3754C>A c.1078+4880C>A (n.1078+4880C>A) | gnomAD v4 |
| 3 | g.11031239C= | CA1345477241 | SLC6A1 | c.1458C= (p.Phe486=) c.1386C= (p.Phe462=) c.1026C= (p.Phe342=) c.1413C= (p.Phe471=) c.852C= (p.Phe284=) c.*769C= (n.*769C=) c.1180C= c.963C= (p.Phe321=) n.439C= n.3754C= c.1078+4880C= (n.1078+4880C=) | |
| 3 | g.11031239C>G | CA351791483 | SLC6A1 | c.1458C>G (p.Phe486Leu) c.1386C>G (p.Phe462Leu) c.1026C>G (p.Phe342Leu) c.1413C>G (p.Phe471Leu) c.852C>G (p.Phe284Leu) c.*769C>G (n.*769C>G) c.1180C>G c.963C>G (p.Phe321Leu) n.439C>G n.3754C>G c.1078+4880C>G (n.1078+4880C>G) | |
| 3 | g.11031239C>T | CA432446666 | SLC6A1 | c.1458C>T (p.Phe486=) c.1386C>T (p.Phe462=) c.1026C>T (p.Phe342=) c.1413C>T (p.Phe471=) c.852C>T (p.Phe284=) c.*769C>T (n.*769C>T) c.1180C>T c.963C>T (p.Phe321=) n.439C>T n.3754C>T c.1078+4880C>T (n.1078+4880C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.11031240C>A | CA351791484 | SLC6A1 | c.1459C>A (p.Leu487Ile) c.1387C>A (p.Leu463Ile) c.1027C>A (p.Leu343Ile) c.1414C>A (p.Leu472Ile) c.853C>A (p.Leu285Ile) c.*770C>A (n.*770C>A) c.1181C>A c.964C>A (p.Leu322Ile) n.440C>A n.3755C>A c.1078+4881C>A (n.1078+4881C>A) | |
| 3 | g.11031240C>G | CA351791485 | SLC6A1 | c.1459C>G (p.Leu487Val) c.1387C>G (p.Leu463Val) c.1027C>G (p.Leu343Val) c.1414C>G (p.Leu472Val) c.853C>G (p.Leu285Val) c.*770C>G (n.*770C>G) c.1181C>G c.964C>G (p.Leu322Val) n.440C>G n.3755C>G c.1078+4881C>G (n.1078+4881C>G) | |
| 3 | g.11031240C>T | CA351791486 | SLC6A1 | c.1459C>T (p.Leu487Phe) c.1387C>T (p.Leu463Phe) c.1027C>T (p.Leu343Phe) c.1414C>T (p.Leu472Phe) c.853C>T (p.Leu285Phe) c.*770C>T (n.*770C>T) c.1181C>T c.964C>T (p.Leu322Phe) n.440C>T n.3755C>T c.1078+4881C>T (n.1078+4881C>T) | |
| 3 | g.11031241T>A | CA351791487 | SLC6A1 | c.1460T>A (p.Leu487His) c.1388T>A (p.Leu463His) c.1028T>A (p.Leu343His) c.1415T>A (p.Leu472His) c.854T>A (p.Leu285His) c.*771T>A (n.*771T>A) c.1182T>A c.965T>A (p.Leu322His) n.441T>A n.3756T>A c.1078+4882T>A (n.1078+4882T>A) | |
| 3 | g.11031241T>C | CA351791489 | SLC6A1 | c.1460T>C (p.Leu487Pro) c.1388T>C (p.Leu463Pro) c.1028T>C (p.Leu343Pro) c.1415T>C (p.Leu472Pro) c.854T>C (p.Leu285Pro) c.*771T>C (n.*771T>C) c.1182T>C c.965T>C (p.Leu322Pro) n.441T>C n.3756T>C c.1078+4882T>C (n.1078+4882T>C) | ClinVar |
| 3 | g.11031241T>G | CA351791488 | SLC6A1 | c.1460T>G (p.Leu487Arg) c.1388T>G (p.Leu463Arg) c.1028T>G (p.Leu343Arg) c.1415T>G (p.Leu472Arg) c.854T>G (p.Leu285Arg) c.*771T>G (n.*771T>G) c.1182T>G c.965T>G (p.Leu322Arg) n.441T>G n.3756T>G c.1078+4882T>G (n.1078+4882T>G) | |
| 3 | g.11031242C>A | CA432446668 | SLC6A1 | c.1461C>A (p.Leu487=) c.1389C>A (p.Leu463=) c.1029C>A (p.Leu343=) c.1416C>A (p.Leu472=) c.855C>A (p.Leu285=) c.*772C>A (n.*772C>A) c.1183C>A c.966C>A (p.Leu322=) n.442C>A n.3757C>A c.1078+4883C>A (n.1078+4883C>A) | gnomAD v4 |
| 3 | g.11031242C= | CA1345477242 | SLC6A1 | c.1461C= (p.Leu487=) c.1389C= (p.Leu463=) c.1029C= (p.Leu343=) c.1416C= (p.Leu472=) c.855C= (p.Leu285=) c.*772C= (n.*772C=) c.1183C= c.966C= (p.Leu322=) n.442C= n.3757C= c.1078+4883C= (n.1078+4883C=) | |
| 3 | g.11031242C>G | CA432446669 | SLC6A1 | c.1461C>G (p.Leu487=) c.1389C>G (p.Leu463=) c.1029C>G (p.Leu343=) c.1416C>G (p.Leu472=) c.855C>G (p.Leu285=) c.*772C>G (n.*772C>G) c.1183C>G c.966C>G (p.Leu322=) n.442C>G n.3757C>G c.1078+4883C>G (n.1078+4883C>G) | |
| 3 | g.11031242C>T | CA432446667 | SLC6A1 | c.1461C>T (p.Leu487=) c.1389C>T (p.Leu463=) c.1029C>T (p.Leu343=) c.1416C>T (p.Leu472=) c.855C>T (p.Leu285=) c.*772C>T (n.*772C>T) c.1183C>T c.966C>T (p.Leu322=) n.442C>T n.3757C>T c.1078+4883C>T (n.1078+4883C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.11031243G>A | CA2255212 | SLC6A1 | c.1462G>A (p.Val488Met) c.1390G>A (p.Val464Met) c.1030G>A (p.Val344Met) c.1417G>A (p.Val473Met) c.856G>A (p.Val286Met) c.*773G>A (n.*773G>A) c.1184G>A c.967G>A (p.Val323Met) n.443G>A n.3758G>A c.1078+4884G>A (n.1078+4884G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.11031243G>C | CA351791490 | SLC6A1 | c.1462G>C (p.Val488Leu) c.1390G>C (p.Val464Leu) c.1030G>C (p.Val344Leu) c.1417G>C (p.Val473Leu) c.856G>C (p.Val286Leu) c.*773G>C (n.*773G>C) c.1184G>C c.967G>C (p.Val323Leu) n.443G>C n.3758G>C c.1078+4884G>C (n.1078+4884G>C) | |
| 3 | g.11031243G= | CA1345477243 | SLC6A1 | c.1462G= (p.Val488=) c.1390G= (p.Val464=) c.1030G= (p.Val344=) c.1417G= (p.Val473=) c.856G= (p.Val286=) c.*773G= (n.*773G=) c.1184G= c.967G= (p.Val323=) n.443G= n.3758G= c.1078+4884G= (n.1078+4884G=) | |
| 3 | g.11031243G>T | CA351791491 | SLC6A1 | c.1462G>T (p.Val488Leu) c.1390G>T (p.Val464Leu) c.1030G>T (p.Val344Leu) c.1417G>T (p.Val473Leu) c.856G>T (p.Val286Leu) c.*773G>T (n.*773G>T) c.1184G>T c.967G>T (p.Val323Leu) n.443G>T n.3758G>T c.1078+4884G>T (n.1078+4884G>T) | |
| 3 | g.11031244T>A | CA351791492 | SLC6A1 | c.1463T>A (p.Val488Glu) c.1391T>A (p.Val464Glu) c.1031T>A (p.Val344Glu) c.1418T>A (p.Val473Glu) c.857T>A (p.Val286Glu) c.*774T>A (n.*774T>A) c.1185T>A c.968T>A (p.Val323Glu) n.444T>A n.3759T>A c.1078+4885T>A (n.1078+4885T>A) | ClinVar dbSNP |
| 3 | g.11031244T>C | CA351791493 | SLC6A1 | c.1463T>C (p.Val488Ala) c.1391T>C (p.Val464Ala) c.1031T>C (p.Val344Ala) c.1418T>C (p.Val473Ala) c.857T>C (p.Val286Ala) c.*774T>C (n.*774T>C) c.1185T>C c.968T>C (p.Val323Ala) n.444T>C n.3759T>C c.1078+4885T>C (n.1078+4885T>C) |