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 |
|---|---|---|---|---|---|
| 19 | g.17816858T>A | CA404760550 | INSL3 | c.392A>T (p.Tyr131Phe) c.*13A>T (n.*13A>T) c.413A>T | |
| 19 | g.17816858T>C | CA404760548 | INSL3 | c.392A>G (p.Tyr131Cys) c.*13A>G (n.*13A>G) c.413A>G | dbSNP gnomAD v4 |
| 19 | g.17816858T>G | CA404760549 | INSL3 | c.392A>C (p.Tyr131Ser) c.*13A>C (n.*13A>C) c.413A>C | gnomAD v4 |
| 19 | g.17816858T= | CA2326044682 | INSL3 | c.392A= (p.Tyr131=) c.*13A= (n.*13A=) c.413A= | |
| 19 | g.17816859A>C | CA404760551 | INSL3 | c.391T>G (p.Tyr131Asp) c.*12T>G (n.*12T>G) c.412T>G | |
| 19 | g.17816859A>G | CA404760552 | INSL3 | c.391T>C (p.Tyr131His) c.*12T>C (n.*12T>C) c.412T>C | |
| 19 | g.17816859A>T | CA404760553 | INSL3 | c.391T>A (p.Tyr131Asn) c.*12T>A (n.*12T>A) c.412T>A | |
| 19 | g.17816860G>A | CA2581993291 | INSL3 | c.390C>T (p.Pro130=) c.*11C>T (n.*11C>T) c.411C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.17816861G>A | CA404760554 | INSL3 | c.389C>T (p.Pro130Leu) c.*10C>T (n.*10C>T) c.410C>T | COSMIC |
| 19 | g.17816861G>C | CA404760555 | INSL3 | c.389C>G (p.Pro130Arg) c.*10C>G (n.*10C>G) c.410C>G | |
| 19 | g.17816861G>T | CA404760556 | INSL3 | c.389C>A (p.Pro130His) c.*10C>A (n.*10C>A) c.410C>A | |
| 19 | g.17816862G>A | CA404760557 | INSL3 | c.388C>T (p.Pro130Ser) c.*9C>T (n.*9C>T) c.409C>T | gnomAD v4 |
| 19 | g.17816862G>C | CA404760558 | INSL3 | c.388C>G (p.Pro130Ala) c.*9C>G (n.*9C>G) c.409C>G | |
| 19 | g.17816862G>T | CA404760559 | INSL3 | c.388C>A (p.Pro130Thr) c.*9C>A (n.*9C>A) c.409C>A | gnomAD v4 |
| 19 | g.17816863A>C | CA404760560 | INSL3 | c.387T>G (p.Cys129Trp) c.*8T>G (n.*8T>G) c.408T>G | |
| 19 | g.17816863A>T | CA404760561 | INSL3 | c.387T>A (p.Cys129Ter) c.*8T>A (n.*8T>A) c.408T>A | |
| 19 | g.17816864C>A | CA404760564 | INSL3 | c.386G>T (p.Cys129Phe) c.*7G>T (n.*7G>T) c.407G>T | |
| 19 | g.17816864C= | CA2326044683 | INSL3 | c.386G= (p.Cys129=) c.*7G= (n.*7G=) c.407G= | |
| 19 | g.17816864C>G | CA404760563 | INSL3 | c.386G>C (p.Cys129Ser) c.*7G>C (n.*7G>C) c.407G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.17816864C>T | CA404760562 | INSL3 | c.386G>A (p.Cys129Tyr) c.*7G>A (n.*7G>A) c.407G>A | gnomAD v4 |
| 19 | g.17816865A>C | CA404760565 | INSL3 | c.385T>G (p.Cys129Gly) c.*6T>G (n.*6T>G) c.406T>G | |
| 19 | g.17816865A>G | CA404760566 | INSL3 | c.385T>C (p.Cys129Arg) c.*6T>C (n.*6T>C) c.406T>C | |
| 19 | g.17816865A>T | CA404760567 | INSL3 | c.385T>A (p.Cys129Ser) c.*6T>A (n.*6T>A) c.406T>A | |
| 19 | g.17816866G>A | CA2576716958 | INSL3 | c.384C>T (p.Leu128=) c.*5C>T (n.*5C>T) c.405C>T | |
| 19 | g.17816867A>C | CA404760568 | INSL3 | c.383T>G (p.Leu128Arg) c.*4T>G (n.*4T>G) c.404T>G | |
| 19 | g.17816867A>G | CA404760569 | INSL3 | c.383T>C (p.Leu128Pro) c.*4T>C (n.*4T>C) c.404T>C | gnomAD v4 |
| 19 | g.17816867A>T | CA404760570 | INSL3 | c.383T>A (p.Leu128His) c.*4T>A (n.*4T>A) c.404T>A | |
| 19 | g.17816868G>A | CA404760571 | INSL3 | c.382C>T (p.Leu128Phe) c.*3C>T (n.*3C>T) c.403C>T | |
| 19 | g.17816868G>C | CA404760572 | INSL3 | c.382C>G (p.Leu128Val) c.*3C>G (n.*3C>G) c.403C>G | |
| 19 | g.17816868G>T | CA404760573 | INSL3 | c.382C>A (p.Leu128Ile) c.*3C>A (n.*3C>A) c.403C>A | |
| 19 | g.17816870dup | CA2583419017 | INSL3 | c.382dup (p.Leu128ProfsTer27) c.*3dup (n.*3dup) c.403dup | gnomAD v4 |
| 19 | g.17816870G>A | CA404760574 | INSL3 | c.380C>T (p.Thr127Ile) c.*1C>T (n.*1C>T) c.401C>T | ClinVar gnomAD v4 |
| 19 | g.17816870G>C | CA404760575 | INSL3 | c.380C>G (p.Thr127Ser) c.*1C>G (n.*1C>G) c.401C>G | ClinVar dbSNP |
| 19 | g.17816870G>T | CA404760576 | INSL3 | c.380C>A (p.Thr127Asn) c.*1C>A (n.*1C>A) c.401C>A | |
| 19 | g.17816871T>A | CA404760579 | INSL3 | c.379A>T (p.Thr127Ser) c.474A>T (p.Ter158Cys) c.400A>T | |
| 19 | g.17816871T>C | CA404760578 | INSL3 | c.379A>G (p.Thr127Ala) c.474A>G (p.Ter158Trp) c.400A>G | |
| 19 | g.17816871T>G | CA404760577 | INSL3 | c.379A>C (p.Thr127Pro) c.474A>C (p.Ter158Cys) c.400A>C | |
| 19 | g.17816872C>A | CA404760580 | INSL3 | c.378G>T (p.Leu126=) c.473G>T (p.Ter158Leu) c.399G>T | |
| 19 | g.17816872C>G | CA404760581 | INSL3 | c.378G>C (p.Leu126=) c.473G>C (p.Ter158Ser) c.399G>C | |
| 19 | g.17816872C>T | CA506002133 | INSL3 | c.378G>A (p.Leu126=) c.473G>A (p.Ter158=) c.399G>A | |
| 19 | g.17816873A>C | CA404760582 | INSL3 | c.377T>G (p.Leu126Arg) c.472T>G (p.Ter158Gly) c.398T>G | |
| 19 | g.17816873A>G | CA404760583 | INSL3 | c.377T>C (p.Leu126Pro) c.472T>C (p.Ter158Arg) c.398T>C | |
| 19 | g.17816873A>T | CA404760584 | INSL3 | c.377T>A (p.Leu126Gln) c.472T>A (p.Ter158Arg) c.398T>A | |
| 19 | g.17816874G>A | CA506002134 | INSL3 | c.376C>T (p.Leu126=) c.471C>T (p.Cys157=) c.397C>T | |
| 19 | g.17816874G>C | CA404760585 | INSL3 | c.376C>G (p.Leu126Val) c.471C>G (p.Cys157Trp) c.397C>G | |
| 19 | g.17816874G>T | CA404760586 | INSL3 | c.376C>A (p.Leu126Met) c.471C>A (p.Cys157Ter) c.397C>A | |
| 19 | g.17816875C>A | CA404760587 | INSL3 | c.375G>T (p.Leu125=) c.470G>T (p.Cys157Phe) c.396G>T | gnomAD v4 |
| 19 | g.17816875C>G | CA404760588 | INSL3 | c.375G>C (p.Leu125=) c.470G>C (p.Cys157Ser) c.396G>C | |
| 19 | g.17816875C>T | CA404760589 | INSL3 | c.375G>A (p.Leu125=) c.470G>A (p.Cys157Tyr) c.396G>A | |
| 19 | g.17816876A>C | CA404760590 | INSL3 | c.374T>G (p.Leu125Arg) c.469T>G (p.Cys157Gly) c.395T>G |