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 |
|---|---|---|---|---|---|
| 9 | g.124500593_124500600del | CA2695211096 | NR5A1 | c.362_369del (p.Glu121AlafsTer25) c.40-326_40-319del (n.40-326_40-319del) c.101_108del (p.Glu34AlafsTer25) | |
| 9 | g.124500596T>A | CA374888374 | NR5A1 | c.364A>T (p.Thr122Ser) c.40-324A>T (n.40-324A>T) c.103A>T (p.Thr35Ser) | |
| 9 | g.124500596T>C | CA374888376 | NR5A1 | c.364A>G (p.Thr122Ala) c.40-324A>G (n.40-324A>G) c.103A>G (p.Thr35Ala) | gnomAD v4 |
| 9 | g.124500596T>G | CA374888378 | NR5A1 | c.364A>C (p.Thr122Pro) c.40-324A>C (n.40-324A>C) c.103A>C (p.Thr35Pro) | |
| 9 | g.124500598_124500599dup | CA2785906237 | NR5A1 | c.363_364dup (p.Thr122ArgfsTer?) c.40-325_40-324dup (n.40-325_40-324dup) c.102_103dup (p.Thr35ArgfsTer?) | |
| 9 | g.124500597C>A | CA374888383 | NR5A1 | c.363G>T (p.Glu121Asp) c.40-325G>T (n.40-325G>T) c.102G>T (p.Glu34Asp) | |
| 9 | g.124500597C= | CA1878469522 | NR5A1 | c.363G= (p.Glu121=) c.40-325G= (n.40-325G=) c.102G= (p.Glu34=) | |
| 9 | g.124500597C>G | CA374888388 | NR5A1 | c.363G>C (p.Glu121Asp) c.40-325G>C (n.40-325G>C) c.102G>C (p.Glu34Asp) | dbSNP |
| 9 | g.124500597C>T | CA5235498 | NR5A1 | c.363G>A (p.Glu121=) c.40-325G>A (n.40-325G>A) c.102G>A (p.Glu34=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500598T>A | CA374888394 | NR5A1 | c.362A>T (p.Glu121Val) c.40-326A>T (n.40-326A>T) c.101A>T (p.Glu34Val) | |
| 9 | g.124500598T>C | CA374888397 | NR5A1 | c.362A>G (p.Glu121Gly) c.40-326A>G (n.40-326A>G) c.101A>G (p.Glu34Gly) | |
| 9 | g.124500598T>G | CA374888400 | NR5A1 | c.362A>C (p.Glu121Ala) c.40-326A>C (n.40-326A>C) c.101A>C (p.Glu34Ala) | |
| 9 | g.124500599C>A | CA374888402 | NR5A1 | c.361G>T (p.Glu121Ter) c.40-327G>T (n.40-327G>T) c.100G>T (p.Glu34Ter) | |
| 9 | g.124500599C>G | CA374888408 | NR5A1 | c.361G>C (p.Glu121Gln) c.40-327G>C (n.40-327G>C) c.100G>C (p.Glu34Gln) | |
| 9 | g.124500599C>T | CA374888404 | NR5A1 | c.361G>A (p.Glu121Lys) c.40-327G>A (n.40-327G>A) c.100G>A (p.Glu34Lys) | gnomAD v4 |
| 9 | g.124500600C>A | CA467208199 | NR5A1 | c.360G>T (p.Leu120=) c.40-328G>T (n.40-328G>T) c.99G>T (p.Leu33=) | |
| 9 | g.124500600C= | CA1878469525 | NR5A1 | c.360G= (p.Leu120=) c.40-328G= (n.40-328G=) c.99G= (p.Leu33=) | |
| 9 | g.124500600C>G | CA467208200 | NR5A1 | c.360G>C (p.Leu120=) c.40-328G>C (n.40-328G>C) c.99G>C (p.Leu33=) | |
| 9 | g.124500600C>T | CA5235499 | NR5A1 | c.360G>A (p.Leu120=) c.40-328G>A (n.40-328G>A) c.99G>A (p.Leu33=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500601A>C | CA374888419 | NR5A1 | c.359T>G (p.Leu120Arg) c.40-329T>G (n.40-329T>G) c.98T>G (p.Leu33Arg) | |
| 9 | g.124500601A>G | CA374888420 | NR5A1 | c.359T>C (p.Leu120Pro) c.40-329T>C (n.40-329T>C) c.98T>C (p.Leu33Pro) | |
| 9 | g.124500601A>T | CA374888421 | NR5A1 | c.359T>A (p.Leu120Gln) c.40-329T>A (n.40-329T>A) c.98T>A (p.Leu33Gln) | |
| 9 | g.124500602G>A | CA467208202 | NR5A1 | c.358C>T (p.Leu120=) c.40-330C>T (n.40-330C>T) c.97C>T (p.Leu33=) | |
| 9 | g.124500602G>C | CA374888425 | NR5A1 | c.358C>G (p.Leu120Val) c.40-330C>G (n.40-330C>G) c.97C>G (p.Leu33Val) | |
| 9 | g.124500602G>T | CA374888430 | NR5A1 | c.358C>A (p.Leu120Met) c.40-330C>A (n.40-330C>A) c.97C>A (p.Leu33Met) | gnomAD v4 |
| 9 | g.124500603C>A | CA374888434 | NR5A1 | c.357G>T (p.Lys119Asn) c.40-331G>T (n.40-331G>T) c.96G>T (p.Lys32Asn) | |
| 9 | g.124500603C>G | CA374888444 | NR5A1 | c.357G>C (p.Lys119Asn) c.40-331G>C (n.40-331G>C) c.96G>C (p.Lys32Asn) | |
| 9 | g.124500603C>T | CA467208203 | NR5A1 | c.357G>A (p.Lys119=) c.40-331G>A (n.40-331G>A) c.96G>A (p.Lys32=) | |
| 9 | g.124500604T>A | CA374888449 | NR5A1 | c.356A>T (p.Lys119Met) c.40-332A>T (n.40-332A>T) c.95A>T (p.Lys32Met) | |
| 9 | g.124500604T>C | CA374888451 | NR5A1 | c.356A>G (p.Lys119Arg) c.40-332A>G (n.40-332A>G) c.95A>G (p.Lys32Arg) | |
| 9 | g.124500604T>G | CA374888452 | NR5A1 | c.356A>C (p.Lys119Thr) c.40-332A>C (n.40-332A>C) c.95A>C (p.Lys32Thr) | |
| 9 | g.124500605T>A | CA374888457 | NR5A1 | c.355A>T (p.Lys119Ter) c.40-333A>T (n.40-333A>T) c.94A>T (p.Lys32Ter) | |
| 9 | g.124500605T>C | CA374888464 | NR5A1 | c.355A>G (p.Lys119Glu) c.40-333A>G (n.40-333A>G) c.94A>G (p.Lys32Glu) | gnomAD v4 |
| 9 | g.124500605T>G | CA374888465 | NR5A1 | c.355A>C (p.Lys119Gln) c.40-333A>C (n.40-333A>C) c.94A>C (p.Lys32Gln) | |
| 9 | g.124500606G>A | CA467208205 | NR5A1 | c.354C>T (p.Phe118=) c.40-334C>T (n.40-334C>T) c.93C>T (p.Phe31=) | |
| 9 | g.124500606G>C | CA374888468 | NR5A1 | c.354C>G (p.Phe118Leu) c.40-334C>G (n.40-334C>G) c.93C>G (p.Phe31Leu) | |
| 9 | g.124500606G>T | CA374888470 | NR5A1 | c.354C>A (p.Phe118Leu) c.40-334C>A (n.40-334C>A) c.93C>A (p.Phe31Leu) | |
| 9 | g.124500607A>C | CA374888473 | NR5A1 | c.353T>G (p.Phe118Cys) c.40-335T>G (n.40-335T>G) c.92T>G (p.Phe31Cys) | |
| 9 | g.124500607A>G | CA374888476 | NR5A1 | c.353T>C (p.Phe118Ser) c.40-335T>C (n.40-335T>C) c.92T>C (p.Phe31Ser) | |
| 9 | g.124500607A>T | CA374888477 | NR5A1 | c.353T>A (p.Phe118Tyr) c.40-335T>A (n.40-335T>A) c.92T>A (p.Phe31Tyr) | |
| 9 | g.124500608A>C | CA374888483 | NR5A1 | c.352T>G (p.Phe118Val) c.40-336T>G (n.40-336T>G) c.91T>G (p.Phe31Val) | gnomAD v4 |
| 9 | g.124500608A>G | CA374888485 | NR5A1 | c.352T>C (p.Phe118Leu) c.40-336T>C (n.40-336T>C) c.91T>C (p.Phe31Leu) | |
| 9 | g.124500608A>T | CA374888493 | NR5A1 | c.352T>A (p.Phe118Ile) c.40-336T>A (n.40-336T>A) c.91T>A (p.Phe31Ile) | ClinVar |
| 9 | g.124500609G>A | CA467208206 | NR5A1 | c.351C>T (p.Gly117=) c.40-337C>T (n.40-337C>T) c.90C>T (p.Gly30=) | COSMIC |
| 9 | g.124500609G>C | CA467208208 | NR5A1 | c.351C>G (p.Gly117=) c.40-337C>G (n.40-337C>G) c.90C>G (p.Gly30=) | |
| 9 | g.124500609G= | CA1878469532 | NR5A1 | c.351C= (p.Gly117=) c.40-337C= (n.40-337C=) c.90C= (p.Gly30=) | |
| 9 | g.124500609G>T | CA467208209 | NR5A1 | c.351C>A (p.Gly117=) c.40-337C>A (n.40-337C>A) c.90C>A (p.Gly30=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500610C>A | CA374888496 | NR5A1 | c.350G>T (p.Gly117Val) c.40-338G>T (n.40-338G>T) c.89G>T (p.Gly30Val) | |
| 9 | g.124500610C>G | CA374888498 | NR5A1 | c.350G>C (p.Gly117Ala) c.40-338G>C (n.40-338G>C) c.89G>C (p.Gly30Ala) | |
| 9 | g.124500610C>T | CA374888503 | NR5A1 | c.350G>A (p.Gly117Asp) c.40-338G>A (n.40-338G>A) c.89G>A (p.Gly30Asp) |