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 |
|---|---|---|---|---|---|
| 14 | g.44934403T>A | CA389557633 | KLHL28 | c.1055A>T (p.His352Leu) c.1097A>T (p.His366Leu) | |
| 14 | g.44934403T>C | CA389557629 | KLHL28 | c.1055A>G (p.His352Arg) c.1097A>G (p.His366Arg) | gnomAD v4 |
| 14 | g.44934403T>G | CA389557631 | KLHL28 | c.1055A>C (p.His352Pro) c.1097A>C (p.His366Pro) | |
| 14 | g.44934404G>A | CA389557634 | KLHL28 | c.1054C>T (p.His352Tyr) c.1096C>T (p.His366Tyr) | |
| 14 | g.44934404G>C | CA389557636 | KLHL28 | c.1054C>G (p.His352Asp) c.1096C>G (p.His366Asp) | |
| 14 | g.44934404G>T | CA389557639 | KLHL28 | c.1054C>A (p.His352Asn) c.1096C>A (p.His366Asn) | |
| 14 | g.44934405T>A | CA389557641 | KLHL28 | c.1053A>T (p.Lys351Asn) c.1095A>T (p.Lys365Asn) | |
| 14 | g.44934405T>C | CA486343097 | KLHL28 | c.1053A>G (p.Lys351=) c.1095A>G (p.Lys365=) | |
| 14 | g.44934405T>G | CA389557643 | KLHL28 | c.1053A>C (p.Lys351Asn) c.1095A>C (p.Lys365Asn) | |
| 14 | g.44934406T>A | CA389557644 | KLHL28 | c.1052A>T (p.Lys351Ile) c.1094A>T (p.Lys365Ile) | |
| 14 | g.44934406T>C | CA389557646 | KLHL28 | c.1052A>G (p.Lys351Arg) c.1094A>G (p.Lys365Arg) | |
| 14 | g.44934406T>G | CA389557647 | KLHL28 | c.1052A>C (p.Lys351Thr) c.1094A>C (p.Lys365Thr) | |
| 14 | g.44934407T>A | CA389557649 | KLHL28 | c.1051A>T (p.Lys351Ter) c.1093A>T (p.Lys365Ter) | |
| 14 | g.44934407T>C | CA389557650 | KLHL28 | c.1051A>G (p.Lys351Glu) c.1093A>G (p.Lys365Glu) | |
| 14 | g.44934407T>G | CA389557653 | KLHL28 | c.1051A>C (p.Lys351Gln) c.1093A>C (p.Lys365Gln) | |
| 14 | g.44934408T>A | CA389557655 | KLHL28 | c.1050A>T (p.Arg350Ser) c.1092A>T (p.Arg364Ser) | |
| 14 | g.44934408T>C | CA486343099 | KLHL28 | c.1050A>G (p.Arg350=) c.1092A>G (p.Arg364=) | |
| 14 | g.44934408T>G | CA389557657 | KLHL28 | c.1050A>C (p.Arg350Ser) c.1092A>C (p.Arg364Ser) | |
| 14 | g.44934409C>A | CA389557662 | KLHL28 | c.1049G>T (p.Arg350Ile) c.1091G>T (p.Arg364Ile) | |
| 14 | g.44934409C>G | CA389557661 | KLHL28 | c.1049G>C (p.Arg350Thr) c.1091G>C (p.Arg364Thr) | |
| 14 | g.44934409C>T | CA389557658 | KLHL28 | c.1049G>A (p.Arg350Lys) c.1091G>A (p.Arg364Lys) | |
| 14 | g.44934410T>A | CA389557665 | KLHL28 | c.1048A>T (p.Arg350Ter) c.1090A>T (p.Arg364Ter) | |
| 14 | g.44934410T>C | CA389557666 | KLHL28 | c.1048A>G (p.Arg350Gly) c.1090A>G (p.Arg364Gly) | |
| 14 | g.44934410T>G | CA486343101 | KLHL28 | c.1048A>C (p.Arg350=) c.1090A>C (p.Arg364=) | |
| 14 | g.44934411G>A | CA486343102 | KLHL28 | c.1047C>T (p.Ile349=) c.1089C>T (p.Ile363=) | |
| 14 | g.44934411G>C | CA389557667 | KLHL28 | c.1047C>G (p.Ile349Met) c.1089C>G (p.Ile363Met) | |
| 14 | g.44934411G>T | CA486343103 | KLHL28 | c.1047C>A (p.Ile349=) c.1089C>A (p.Ile363=) | |
| 14 | g.44934412A>C | CA389557669 | KLHL28 | c.1046T>G (p.Ile349Ser) c.1088T>G (p.Ile363Ser) | |
| 14 | g.44934412A>G | CA389557670 | KLHL28 | c.1046T>C (p.Ile349Thr) c.1088T>C (p.Ile363Thr) | |
| 14 | g.44934412A>T | CA389557671 | KLHL28 | c.1046T>A (p.Ile349Asn) c.1088T>A (p.Ile363Asn) | |
| 14 | g.44934413T>A | CA389557673 | KLHL28 | c.1045A>T (p.Ile349Phe) c.1087A>T (p.Ile363Phe) | |
| 14 | g.44934413T>C | CA7166643 | KLHL28 | c.1045A>G (p.Ile349Val) c.1087A>G (p.Ile363Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.44934413T>G | CA389557676 | KLHL28 | c.1045A>C (p.Ile349Leu) c.1087A>C (p.Ile363Leu) | gnomAD v4 |
| 14 | g.44934413T= | CA2133508271 | KLHL28 | c.1045A= (p.Ile349=) c.1087A= (p.Ile363=) | |
| 14 | g.44934414A= | CA2133508272 | KLHL28 | c.1044T= (p.Thr348=) c.1086T= (p.Thr362=) | |
| 14 | g.44934414A>C | CA7166644 | KLHL28 | c.1044T>G (p.Thr348=) c.1086T>G (p.Thr362=) | dbSNP ExAC gnomAD v2 |
| 14 | g.44934414A>G | CA486343105 | KLHL28 | c.1044T>C (p.Thr348=) c.1086T>C (p.Thr362=) | |
| 14 | g.44934414A>T | CA486343106 | KLHL28 | c.1044T>A (p.Thr348=) c.1086T>A (p.Thr362=) | |
| 14 | g.44934415G>A | CA389557678 | KLHL28 | c.1043C>T (p.Thr348Ile) c.1085C>T (p.Thr362Ile) | |
| 14 | g.44934415G>C | CA389557681 | KLHL28 | c.1043C>G (p.Thr348Ser) c.1085C>G (p.Thr362Ser) | |
| 14 | g.44934415G>T | CA389557683 | KLHL28 | c.1043C>A (p.Thr348Asn) c.1085C>A (p.Thr362Asn) | |
| 14 | g.44934416T>A | CA389557687 | KLHL28 | c.1042A>T (p.Thr348Ser) c.1084A>T (p.Thr362Ser) | |
| 14 | g.44934416T>C | CA389557689 | KLHL28 | c.1042A>G (p.Thr348Ala) c.1084A>G (p.Thr362Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.44934416T>G | CA389557685 | KLHL28 | c.1042A>C (p.Thr348Pro) c.1084A>C (p.Thr362Pro) | ClinVar dbSNP |
| 14 | g.44934416T= | CA2133508273 | KLHL28 | c.1042A= (p.Thr348=) c.1084A= (p.Thr362=) | |
| 14 | g.44934417G>A | CA486343109 | KLHL28 | c.1041C>T (p.Val347=) c.1083C>T (p.Val361=) | dbSNP |
| 14 | g.44934417G>C | CA486343110 | KLHL28 | c.1041C>G (p.Val347=) c.1083C>G (p.Val361=) | |
| 14 | g.44934417G= | CA2133508274 | KLHL28 | c.1041C= (p.Val347=) c.1083C= (p.Val361=) | |
| 14 | g.44934417G>T | CA486343111 | KLHL28 | c.1041C>A (p.Val347=) c.1083C>A (p.Val361=) | dbSNP |
| 14 | g.44934418A>C | CA389557690 | KLHL28 | c.1040T>G (p.Val347Gly) c.1082T>G (p.Val361Gly) |