UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 3 | g.11031244T>G | CA351791494 | SLC6A1 | c.1463T>G (p.Val488Gly) c.1391T>G (p.Val464Gly) c.1031T>G (p.Val344Gly) c.1418T>G (p.Val473Gly) c.857T>G (p.Val286Gly) c.*774T>G (n.*774T>G) c.1185T>G c.968T>G (p.Val323Gly) n.444T>G n.3759T>G c.1078+4885T>G (n.1078+4885T>G) | |
| 3 | g.11031244T= | CA1345477244 | SLC6A1 | c.1463T= (p.Val488=) c.1391T= (p.Val464=) c.1031T= (p.Val344=) c.1418T= (p.Val473=) c.857T= (p.Val286=) c.*774T= (n.*774T=) c.1185T= c.968T= (p.Val323=) n.444T= n.3759T= c.1078+4885T= (n.1078+4885T=) | |
| 3 | g.11031245G>A | CA2255213 | SLC6A1 | c.1464G>A (p.Val488=) c.1392G>A (p.Val464=) c.1032G>A (p.Val344=) c.1419G>A (p.Val473=) c.858G>A (p.Val286=) c.*775G>A (n.*775G>A) c.1186G>A c.969G>A (p.Val323=) n.445G>A n.3760G>A c.1078+4886G>A (n.1078+4886G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.11031245G>C | CA432446670 | SLC6A1 | c.1464G>C (p.Val488=) c.1392G>C (p.Val464=) c.1032G>C (p.Val344=) c.1419G>C (p.Val473=) c.858G>C (p.Val286=) c.*775G>C (n.*775G>C) c.1186G>C c.969G>C (p.Val323=) n.445G>C n.3760G>C c.1078+4886G>C (n.1078+4886G>C) | |
| 3 | g.11031245G= | CA1345477245 | SLC6A1 | c.1464G= (p.Val488=) c.1392G= (p.Val464=) c.1032G= (p.Val344=) c.1419G= (p.Val473=) c.858G= (p.Val286=) c.*775G= (n.*775G=) c.1186G= c.969G= (p.Val323=) n.445G= n.3760G= c.1078+4886G= (n.1078+4886G=) | |
| 3 | g.11031245G>T | CA432446671 | SLC6A1 | c.1464G>T (p.Val488=) c.1392G>T (p.Val464=) c.1032G>T (p.Val344=) c.1419G>T (p.Val473=) c.858G>T (p.Val286=) c.*775G>T (n.*775G>T) c.1186G>T c.969G>T (p.Val323=) n.445G>T n.3760G>T c.1078+4886G>T (n.1078+4886G>T) | dbSNP gnomAD v4 |
| 3 | g.11031246T>A | CA351791495 | SLC6A1 | c.1465T>A (p.Phe489Ile) c.1393T>A (p.Phe465Ile) c.1033T>A (p.Phe345Ile) c.1420T>A (p.Phe474Ile) c.859T>A (p.Phe287Ile) c.*776T>A (n.*776T>A) c.1187T>A c.970T>A (p.Phe324Ile) n.446T>A n.3761T>A c.1078+4887T>A (n.1078+4887T>A) | |
| 3 | g.11031246T>C | CA351791496 | SLC6A1 | c.1465T>C (p.Phe489Leu) c.1393T>C (p.Phe465Leu) c.1033T>C (p.Phe345Leu) c.1420T>C (p.Phe474Leu) c.859T>C (p.Phe287Leu) c.*776T>C (n.*776T>C) c.1187T>C c.970T>C (p.Phe324Leu) n.446T>C n.3761T>C c.1078+4887T>C (n.1078+4887T>C) | |
| 3 | g.11031246T>G | CA351791497 | SLC6A1 | c.1465T>G (p.Phe489Val) c.1393T>G (p.Phe465Val) c.1033T>G (p.Phe345Val) c.1420T>G (p.Phe474Val) c.859T>G (p.Phe287Val) c.*776T>G (n.*776T>G) c.1187T>G c.970T>G (p.Phe324Val) n.446T>G n.3761T>G c.1078+4887T>G (n.1078+4887T>G) | |
| 3 | g.11031247T>A | CA351791500 | SLC6A1 | c.1466T>A (p.Phe489Tyr) c.1394T>A (p.Phe465Tyr) c.1034T>A (p.Phe345Tyr) c.1421T>A (p.Phe474Tyr) c.860T>A (p.Phe287Tyr) c.*777T>A (n.*777T>A) c.1188T>A c.971T>A (p.Phe324Tyr) n.447T>A n.3762T>A c.1078+4888T>A (n.1078+4888T>A) | |
| 3 | g.11031247T>C | CA351791499 | SLC6A1 | c.1466T>C (p.Phe489Ser) c.1394T>C (p.Phe465Ser) c.1034T>C (p.Phe345Ser) c.1421T>C (p.Phe474Ser) c.860T>C (p.Phe287Ser) c.*777T>C (n.*777T>C) c.1188T>C c.971T>C (p.Phe324Ser) n.447T>C n.3762T>C c.1078+4888T>C (n.1078+4888T>C) | |
| 3 | g.11031247T>G | CA351791498 | SLC6A1 | c.1466T>G (p.Phe489Cys) c.1394T>G (p.Phe465Cys) c.1034T>G (p.Phe345Cys) c.1421T>G (p.Phe474Cys) c.860T>G (p.Phe287Cys) c.*777T>G (n.*777T>G) c.1188T>G c.971T>G (p.Phe324Cys) n.447T>G n.3762T>G c.1078+4888T>G (n.1078+4888T>G) | |
| 3 | g.11031248C>A | CA351791501 | SLC6A1 | c.1467C>A (p.Phe489Leu) c.1395C>A (p.Phe465Leu) c.1035C>A (p.Phe345Leu) c.1422C>A (p.Phe474Leu) c.861C>A (p.Phe287Leu) c.*778C>A (n.*778C>A) c.1189C>A c.972C>A (p.Phe324Leu) n.448C>A n.3763C>A c.1078+4889C>A (n.1078+4889C>A) | |
| 3 | g.11031248C>G | CA351791502 | SLC6A1 | c.1467C>G (p.Phe489Leu) c.1395C>G (p.Phe465Leu) c.1035C>G (p.Phe345Leu) c.1422C>G (p.Phe474Leu) c.861C>G (p.Phe287Leu) c.*778C>G (n.*778C>G) c.1189C>G c.972C>G (p.Phe324Leu) n.448C>G n.3763C>G c.1078+4889C>G (n.1078+4889C>G) | |
| 3 | g.11031248C>T | CA432446672 | SLC6A1 | c.1467C>T (p.Phe489=) c.1395C>T (p.Phe465=) c.1035C>T (p.Phe345=) c.1422C>T (p.Phe474=) c.861C>T (p.Phe287=) c.*778C>T (n.*778C>T) c.1189C>T c.972C>T (p.Phe324=) n.448C>T n.3763C>T c.1078+4889C>T (n.1078+4889C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.11031249T>A | CA351791503 | SLC6A1 | c.1468T>A (p.Phe490Ile) c.1396T>A (p.Phe466Ile) c.1036T>A (p.Phe346Ile) c.1423T>A (p.Phe475Ile) c.862T>A (p.Phe288Ile) c.*779T>A (n.*779T>A) c.1190T>A c.973T>A (p.Phe325Ile) n.449T>A n.3764T>A c.1078+4890T>A (n.1078+4890T>A) | |
| 3 | g.11031249T>C | CA351791504 | SLC6A1 | c.1468T>C (p.Phe490Leu) c.1396T>C (p.Phe466Leu) c.1036T>C (p.Phe346Leu) c.1423T>C (p.Phe475Leu) c.862T>C (p.Phe288Leu) c.*779T>C (n.*779T>C) c.1190T>C c.973T>C (p.Phe325Leu) n.449T>C n.3764T>C c.1078+4890T>C (n.1078+4890T>C) | |
| 3 | g.11031249T>G | CA351791505 | SLC6A1 | c.1468T>G (p.Phe490Val) c.1396T>G (p.Phe466Val) c.1036T>G (p.Phe346Val) c.1423T>G (p.Phe475Val) c.862T>G (p.Phe288Val) c.*779T>G (n.*779T>G) c.1190T>G c.973T>G (p.Phe325Val) n.449T>G n.3764T>G c.1078+4890T>G (n.1078+4890T>G) | |
| 3 | g.11031250T>A | CA351791506 | SLC6A1 | c.1469T>A (p.Phe490Tyr) c.1397T>A (p.Phe466Tyr) c.1037T>A (p.Phe346Tyr) c.1424T>A (p.Phe475Tyr) c.863T>A (p.Phe288Tyr) c.*780T>A (n.*780T>A) c.1191T>A c.974T>A (p.Phe325Tyr) n.450T>A n.3765T>A c.1078+4891T>A (n.1078+4891T>A) | |
| 3 | g.11031250T>C | CA351791507 | SLC6A1 | c.1469T>C (p.Phe490Ser) c.1397T>C (p.Phe466Ser) c.1037T>C (p.Phe346Ser) c.1424T>C (p.Phe475Ser) c.863T>C (p.Phe288Ser) c.*780T>C (n.*780T>C) c.1191T>C c.974T>C (p.Phe325Ser) n.450T>C n.3765T>C c.1078+4891T>C (n.1078+4891T>C) | |
| 3 | g.11031250T>G | CA351791508 | SLC6A1 | c.1469T>G (p.Phe490Cys) c.1397T>G (p.Phe466Cys) c.1037T>G (p.Phe346Cys) c.1424T>G (p.Phe475Cys) c.863T>G (p.Phe288Cys) c.*780T>G (n.*780T>G) c.1191T>G c.974T>G (p.Phe325Cys) n.450T>G n.3765T>G c.1078+4891T>G (n.1078+4891T>G) | |
| 3 | g.11031251T>A | CA351791509 | SLC6A1 | c.1470T>A (p.Phe490Leu) c.1398T>A (p.Phe466Leu) c.1038T>A (p.Phe346Leu) c.1425T>A (p.Phe475Leu) c.864T>A (p.Phe288Leu) c.*781T>A (n.*781T>A) c.1192T>A c.975T>A (p.Phe325Leu) n.451T>A n.3766T>A c.1078+4892T>A (n.1078+4892T>A) | |
| 3 | g.11031251T>C | CA432446673 | SLC6A1 | c.1470T>C (p.Phe490=) c.1398T>C (p.Phe466=) c.1038T>C (p.Phe346=) c.1425T>C (p.Phe475=) c.864T>C (p.Phe288=) c.*781T>C (n.*781T>C) c.1192T>C c.975T>C (p.Phe325=) n.451T>C n.3766T>C c.1078+4892T>C (n.1078+4892T>C) | |
| 3 | g.11031251T>G | CA351791510 | SLC6A1 | c.1470T>G (p.Phe490Leu) c.1398T>G (p.Phe466Leu) c.1038T>G (p.Phe346Leu) c.1425T>G (p.Phe475Leu) c.864T>G (p.Phe288Leu) c.*781T>G (n.*781T>G) c.1192T>G c.975T>G (p.Phe325Leu) n.451T>G n.3766T>G c.1078+4892T>G (n.1078+4892T>G) |