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 |
|---|---|---|---|---|---|
| 10 | g.102830886del | CA2574654672 | CYP17A1,WBP1L | c.1345del (p.Arg449AlafsTer?) c.1042del (p.Arg348AlafsTer?) c.889del (p.Arg297AlafsTer?) c.1258del (p.Arg420AlafsTer?) c.1348del (p.Arg450AlafsTer?) n.1107del c.*568del (n.*568del) | |
| 10 | g.102830886G>A | CA377938178 | CYP17A1,WBP1L | c.1343C>T (p.Ala448Val) c.1040C>T (p.Ala347Val) c.887C>T (p.Ala296Val) c.1256C>T (p.Ala419Val) c.1346C>T (p.Ala449Val) n.1105C>T c.*568G>A (n.*568G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102830886G>C | CA377938179 | CYP17A1,WBP1L | c.1343C>G (p.Ala448Gly) c.1040C>G (p.Ala347Gly) c.887C>G (p.Ala296Gly) c.1256C>G (p.Ala419Gly) c.1346C>G (p.Ala449Gly) n.1105C>G c.*568G>C (n.*568G>C) | dbSNP |
| 10 | g.102830886G= | CA1932867077 | CYP17A1,WBP1L | c.1343C= (p.Ala448=) c.1040C= (p.Ala347=) c.887C= (p.Ala296=) c.1256C= (p.Ala419=) c.1346C= (p.Ala449=) n.1105C= c.*568G= (n.*568G=) | |
| 10 | g.102830886G>T | CA212290840 | CYP17A1,WBP1L | c.1343C>A (p.Ala448Asp) c.1040C>A (p.Ala347Asp) c.887C>A (p.Ala296Asp) c.1256C>A (p.Ala419Asp) c.1346C>A (p.Ala449Asp) n.1105C>A c.*568G>T (n.*568G>T) | dbSNP gnomAD v4 |
| 10 | g.102830887C>A | CA377938180 | CYP17A1,WBP1L | c.1342G>T (p.Ala448Ser) c.1039G>T (p.Ala347Ser) c.886G>T (p.Ala296Ser) c.1255G>T (p.Ala419Ser) c.1345G>T (p.Ala449Ser) n.1104G>T c.*569C>A (n.*569C>A) | gnomAD v4 |
| 10 | g.102830887C>G | CA377938181 | CYP17A1,WBP1L | c.1342G>C (p.Ala448Pro) c.1039G>C (p.Ala347Pro) c.886G>C (p.Ala296Pro) c.1255G>C (p.Ala419Pro) c.1345G>C (p.Ala449Pro) n.1104G>C c.*569C>G (n.*569C>G) | |
| 10 | g.102830887C>T | CA377938182 | CYP17A1,WBP1L | c.1342G>A (p.Ala448Thr) c.1039G>A (p.Ala347Thr) c.886G>A (p.Ala296Thr) c.1255G>A (p.Ala419Thr) c.1345G>A (p.Ala449Thr) n.1104G>A c.*569C>T (n.*569C>T) | gnomAD v4 |
| 10 | g.102830888C>A | CA471287288 | CYP17A1,WBP1L | c.1341G>T (p.Leu447=) c.1038G>T (p.Leu346=) c.885G>T (p.Leu295=) c.1254G>T (p.Leu418=) c.1344G>T (p.Leu448=) n.1103G>T c.*570C>A (n.*570C>A) | gnomAD v4 |
| 10 | g.102830888C= | CA1932867082 | CYP17A1,WBP1L | c.1341G= (p.Leu447=) c.1038G= (p.Leu346=) c.885G= (p.Leu295=) c.1254G= (p.Leu418=) c.1344G= (p.Leu448=) n.1103G= c.*570C= (n.*570C=) | |
| 10 | g.102830888C>G | CA471287290 | CYP17A1,WBP1L | c.1341G>C (p.Leu447=) c.1038G>C (p.Leu346=) c.885G>C (p.Leu295=) c.1254G>C (p.Leu418=) c.1344G>C (p.Leu448=) n.1103G>C c.*570C>G (n.*570C>G) | |
| 10 | g.102830888C>T | CA471287291 | CYP17A1,WBP1L | c.1341G>A (p.Leu447=) c.1038G>A (p.Leu346=) c.885G>A (p.Leu295=) c.1254G>A (p.Leu418=) c.1344G>A (p.Leu448=) n.1103G>A c.*570C>T (n.*570C>T) | dbSNP gnomAD v2 |
| 10 | g.102830889A>C | CA377938183 | CYP17A1,WBP1L | c.1340T>G (p.Leu447Arg) c.1037T>G (p.Leu346Arg) c.884T>G (p.Leu295Arg) c.1253T>G (p.Leu418Arg) c.1343T>G (p.Leu448Arg) n.1102T>G c.*571A>C (n.*571A>C) | |
| 10 | g.102830889A>G | CA377938184 | CYP17A1,WBP1L | c.1340T>C (p.Leu447Pro) c.1037T>C (p.Leu346Pro) c.884T>C (p.Leu295Pro) c.1253T>C (p.Leu418Pro) c.1343T>C (p.Leu448Pro) n.1102T>C c.*571A>G (n.*571A>G) | gnomAD v4 |
| 10 | g.102830889A>T | CA377938185 | CYP17A1,WBP1L | c.1340T>A (p.Leu447Gln) c.1037T>A (p.Leu346Gln) c.884T>A (p.Leu295Gln) c.1253T>A (p.Leu418Gln) c.1343T>A (p.Leu448Gln) n.1102T>A c.*571A>T (n.*571A>T) | |
| 10 | g.102830890G>A | CA471287293 | CYP17A1,WBP1L | c.1339C>T (p.Leu447=) c.1036C>T (p.Leu346=) c.883C>T (p.Leu295=) c.1252C>T (p.Leu418=) c.1342C>T (p.Leu448=) n.1101C>T c.*572G>A (n.*572G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102830890G>C | CA377938186 | CYP17A1,WBP1L | c.1339C>G (p.Leu447Val) c.1036C>G (p.Leu346Val) c.883C>G (p.Leu295Val) c.1252C>G (p.Leu418Val) c.1342C>G (p.Leu448Val) n.1101C>G c.*572G>C (n.*572G>C) | gnomAD v4 |
| 10 | g.102830890G= | CA1932867107 | CYP17A1,WBP1L | c.1339C= (p.Leu447=) c.1036C= (p.Leu346=) c.883C= (p.Leu295=) c.1252C= (p.Leu418=) c.1342C= (p.Leu448=) n.1101C= c.*572G= (n.*572G=) | |
| 10 | g.102830890G>T | CA377938187 | CYP17A1,WBP1L | c.1339C>A (p.Leu447Met) c.1036C>A (p.Leu346Met) c.883C>A (p.Leu295Met) c.1252C>A (p.Leu418Met) c.1342C>A (p.Leu448Met) n.1101C>A c.*572G>T (n.*572G>T) | gnomAD v4 |
| 10 | g.102830891G>A | CA471287296 | CYP17A1,WBP1L | c.1338C>T (p.Ile446=) c.1035C>T (p.Ile345=) c.882C>T (p.Ile294=) c.1251C>T (p.Ile417=) c.1341C>T (p.Ile447=) n.1100C>T c.*573G>A (n.*573G>A) | |
| 10 | g.102830891G>C | CA377938188 | CYP17A1,WBP1L | c.1338C>G (p.Ile446Met) c.1035C>G (p.Ile345Met) c.882C>G (p.Ile294Met) c.1251C>G (p.Ile417Met) c.1341C>G (p.Ile447Met) n.1100C>G c.*573G>C (n.*573G>C) | |
| 10 | g.102830891G>T | CA471287298 | CYP17A1,WBP1L | c.1338C>A (p.Ile446=) c.1035C>A (p.Ile345=) c.882C>A (p.Ile294=) c.1251C>A (p.Ile417=) c.1341C>A (p.Ile447=) n.1100C>A c.*573G>T (n.*573G>T) | gnomAD v4 |
| 10 | g.102830892A>C | CA377938189 | CYP17A1,WBP1L | c.1337T>G (p.Ile446Ser) c.1034T>G (p.Ile345Ser) c.881T>G (p.Ile294Ser) c.1250T>G (p.Ile417Ser) c.1340T>G (p.Ile447Ser) n.1099T>G c.*574A>C (n.*574A>C) | |
| 10 | g.102830892A>G | CA377938191 | CYP17A1,WBP1L | c.1337T>C (p.Ile446Thr) c.1034T>C (p.Ile345Thr) c.881T>C (p.Ile294Thr) c.1250T>C (p.Ile417Thr) c.1340T>C (p.Ile447Thr) n.1099T>C c.*574A>G (n.*574A>G) | |
| 10 | g.102830892A>T | CA377938190 | CYP17A1,WBP1L | c.1337T>A (p.Ile446Asn) c.1034T>A (p.Ile345Asn) c.881T>A (p.Ile294Asn) c.1250T>A (p.Ile417Asn) c.1340T>A (p.Ile447Asn) n.1099T>A c.*574A>T (n.*574A>T) | gnomAD v4 |
| 10 | g.102830893T>A | CA377938192 | CYP17A1,WBP1L | c.1336A>T (p.Ile446Phe) c.1033A>T (p.Ile345Phe) c.880A>T (p.Ile294Phe) c.1249A>T (p.Ile417Phe) c.1339A>T (p.Ile447Phe) n.1098A>T c.*575T>A (n.*575T>A) | gnomAD v4 |
| 10 | g.102830893T>C | CA377938194 | CYP17A1,WBP1L | c.1336A>G (p.Ile446Val) c.1033A>G (p.Ile345Val) c.880A>G (p.Ile294Val) c.1249A>G (p.Ile417Val) c.1339A>G (p.Ile447Val) n.1098A>G c.*575T>C (n.*575T>C) | |
| 10 | g.102830893T>G | CA377938193 | CYP17A1,WBP1L | c.1336A>C (p.Ile446Leu) c.1033A>C (p.Ile345Leu) c.880A>C (p.Ile294Leu) c.1249A>C (p.Ile417Leu) c.1339A>C (p.Ile447Leu) n.1098A>C c.*575T>G (n.*575T>G) | gnomAD v4 |
| 10 | g.102830894C>A | CA377938195 | CYP17A1,WBP1L | c.1335G>T (p.Glu445Asp) c.1032G>T (p.Glu344Asp) c.879G>T (p.Glu293Asp) c.1248G>T (p.Glu416Asp) c.1338G>T (p.Glu446Asp) n.1097G>T c.*576C>A (n.*576C>A) | |
| 10 | g.102830894C>G | CA377938196 | CYP17A1,WBP1L | c.1335G>C (p.Glu445Asp) c.1032G>C (p.Glu344Asp) c.879G>C (p.Glu293Asp) c.1248G>C (p.Glu416Asp) c.1338G>C (p.Glu446Asp) n.1097G>C c.*576C>G (n.*576C>G) | |
| 10 | g.102830894C>T | CA471287300 | CYP17A1,WBP1L | c.1335G>A (p.Glu445=) c.1032G>A (p.Glu344=) c.879G>A (p.Glu293=) c.1248G>A (p.Glu416=) c.1338G>A (p.Glu446=) n.1097G>A c.*576C>T (n.*576C>T) | gnomAD v4 |
| 10 | g.102830895T>A | CA377938197 | CYP17A1,WBP1L | c.1334A>T (p.Glu445Val) c.1031A>T (p.Glu344Val) c.878A>T (p.Glu293Val) c.1247A>T (p.Glu416Val) c.1337A>T (p.Glu446Val) n.1096A>T c.*577T>A (n.*577T>A) | |
| 10 | g.102830895T>C | CA377938198 | CYP17A1,WBP1L | c.1334A>G (p.Glu445Gly) c.1031A>G (p.Glu344Gly) c.878A>G (p.Glu293Gly) c.1247A>G (p.Glu416Gly) c.1337A>G (p.Glu446Gly) n.1096A>G c.*577T>C (n.*577T>C) | |
| 10 | g.102830895T>G | CA377938199 | CYP17A1,WBP1L | c.1334A>C (p.Glu445Ala) c.1031A>C (p.Glu344Ala) c.878A>C (p.Glu293Ala) c.1247A>C (p.Glu416Ala) c.1337A>C (p.Glu446Ala) n.1096A>C c.*577T>G (n.*577T>G) | |
| 10 | g.102830896C>A | CA377938200 | CYP17A1,WBP1L | c.1333G>T (p.Glu445Ter) c.1030G>T (p.Glu344Ter) c.877G>T (p.Glu293Ter) c.1246G>T (p.Glu416Ter) c.1336G>T (p.Glu446Ter) n.1095G>T c.*578C>A (n.*578C>A) | gnomAD v4 |
| 10 | g.102830896C= | CA1932867112 | CYP17A1,WBP1L | c.1333G= (p.Glu445=) c.1030G= (p.Glu344=) c.877G= (p.Glu293=) c.1246G= (p.Glu416=) c.1336G= (p.Glu446=) n.1095G= c.*578C= (n.*578C=) | |
| 10 | g.102830896C>G | CA377938201 | CYP17A1,WBP1L | c.1333G>C (p.Glu445Gln) c.1030G>C (p.Glu344Gln) c.877G>C (p.Glu293Gln) c.1246G>C (p.Glu416Gln) c.1336G>C (p.Glu446Gln) n.1095G>C c.*578C>G (n.*578C>G) | dbSNP |
| 10 | g.102830896C>T | CA377938202 | CYP17A1,WBP1L | c.1333G>A (p.Glu445Lys) c.1030G>A (p.Glu344Lys) c.877G>A (p.Glu293Lys) c.1246G>A (p.Glu416Lys) c.1336G>A (p.Glu446Lys) n.1095G>A c.*578C>T (n.*578C>T) | gnomAD v4 |
| 10 | g.102830897A>C | CA471287305 | CYP17A1,WBP1L | c.1332T>G (p.Gly444=) c.1029T>G (p.Gly343=) c.876T>G (p.Gly292=) c.1245T>G (p.Gly415=) c.1335T>G (p.Gly445=) n.1094T>G c.*579A>C (n.*579A>C) | |
| 10 | g.102830897A>G | CA471287307 | CYP17A1,WBP1L | c.1332T>C (p.Gly444=) c.1029T>C (p.Gly343=) c.876T>C (p.Gly292=) c.1245T>C (p.Gly415=) c.1335T>C (p.Gly445=) n.1094T>C c.*579A>G (n.*579A>G) | |
| 10 | g.102830897A>T | CA471287308 | CYP17A1,WBP1L | c.1332T>A (p.Gly444=) c.1029T>A (p.Gly343=) c.876T>A (p.Gly292=) c.1245T>A (p.Gly415=) c.1335T>A (p.Gly445=) n.1094T>A c.*579A>T (n.*579A>T) | |
| 10 | g.102830897_102830898delinsAC | CA1932867113 | CYP17A1,WBP1L | c.1331_1332delinsGT (p.Gly444=) c.1028_1029delinsGT (p.Gly343=) c.875_876delinsGT (p.Gly292=) c.1244_1245delinsGT (p.Gly415=) c.1334_1335delinsGT (p.Gly445=) n.1093_1094delinsGT c.*579_*580delinsAC (n.*579_*580delinsAC) | |
| 10 | g.102830898C>A | CA377938203 | CYP17A1,WBP1L | c.1331G>T (p.Gly444Val) c.1028G>T (p.Gly343Val) c.875G>T (p.Gly292Val) c.1244G>T (p.Gly415Val) c.1334G>T (p.Gly445Val) n.1093G>T c.*580C>A (n.*580C>A) | |
| 10 | g.102830898C= | CA1932867118 | CYP17A1,WBP1L | c.1331G= (p.Gly444=) c.1028G= (p.Gly343=) c.875G= (p.Gly292=) c.1244G= (p.Gly415=) c.1334G= (p.Gly445=) n.1093G= c.*580C= (n.*580C=) | |
| 10 | g.102830898C>G | CA377938204 | CYP17A1,WBP1L | c.1331G>C (p.Gly444Ala) c.1028G>C (p.Gly343Ala) c.875G>C (p.Gly292Ala) c.1244G>C (p.Gly415Ala) c.1334G>C (p.Gly445Ala) n.1093G>C c.*580C>G (n.*580C>G) | |
| 10 | g.102830898C>T | CA377938205 | CYP17A1,WBP1L | c.1331G>A (p.Gly444Asp) c.1028G>A (p.Gly343Asp) c.875G>A (p.Gly292Asp) c.1244G>A (p.Gly415Asp) c.1334G>A (p.Gly445Asp) n.1093G>A c.*580C>T (n.*580C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102830899del | CA595226116 | CYP17A1,WBP1L | c.1331del (p.Gly444ValfsTer?) c.1028del (p.Gly343ValfsTer?) c.875del (p.Gly292ValfsTer?) c.1244del (p.Gly415ValfsTer?) c.1334del (p.Gly445ValfsTer?) n.1093del c.*581del (n.*581del) | dbSNP gnomAD v2 |
| 10 | g.102830899C>A | CA377938208 | CYP17A1,WBP1L | c.1330G>T (p.Gly444Cys) c.1027G>T (p.Gly343Cys) c.874G>T (p.Gly292Cys) c.1243G>T (p.Gly415Cys) c.1333G>T (p.Gly445Cys) n.1092G>T c.*581C>A (n.*581C>A) | gnomAD v4 |
| 10 | g.102830899C>G | CA377938207 | CYP17A1,WBP1L | c.1330G>C (p.Gly444Arg) c.1027G>C (p.Gly343Arg) c.874G>C (p.Gly292Arg) c.1243G>C (p.Gly415Arg) c.1333G>C (p.Gly445Arg) n.1092G>C c.*581C>G (n.*581C>G) | |
| 10 | g.102830899C>T | CA377938206 | CYP17A1,WBP1L | c.1330G>A (p.Gly444Ser) c.1027G>A (p.Gly343Ser) c.874G>A (p.Gly292Ser) c.1243G>A (p.Gly415Ser) c.1333G>A (p.Gly445Ser) n.1092G>A c.*581C>T (n.*581C>T) |