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 |
|---|---|---|---|---|---|
| 1 | g.146018113A>C | CA420250002 | HJV | c.1245T>G (p.Leu415=) c.567T>G (p.Leu189=) c.906T>G (p.Leu302=) | gnomAD v4 |
| 1 | g.146018113A>G | CA420250001 | HJV | c.1245T>C (p.Leu415=) c.567T>C (p.Leu189=) c.906T>C (p.Leu302=) | |
| 1 | g.146018113A>T | CA420250003 | HJV | c.1245T>A (p.Leu415=) c.567T>A (p.Leu189=) c.906T>A (p.Leu302=) | |
| 1 | g.146018114A>C | CA342131403 | HJV | c.1244T>G (p.Leu415Arg) c.566T>G (p.Leu189Arg) c.905T>G (p.Leu302Arg) | |
| 1 | g.146018114A>G | CA342131405 | HJV | c.1244T>C (p.Leu415Pro) c.566T>C (p.Leu189Pro) c.905T>C (p.Leu302Pro) | |
| 1 | g.146018114A>T | CA342131408 | HJV | c.1244T>A (p.Leu415His) c.566T>A (p.Leu189His) c.905T>A (p.Leu302His) | |
| 1 | g.146018115G>A | CA342131410 | HJV | c.1243C>T (p.Leu415Phe) c.565C>T (p.Leu189Phe) c.904C>T (p.Leu302Phe) | gnomAD v4 COSMIC |
| 1 | g.146018115G>C | CA342131412 | HJV | c.1243C>G (p.Leu415Val) c.565C>G (p.Leu189Val) c.904C>G (p.Leu302Val) | |
| 1 | g.146018115G>T | CA342131411 | HJV | c.1243C>A (p.Leu415Ile) c.565C>A (p.Leu189Ile) c.904C>A (p.Leu302Ile) | |
| 1 | g.146018116G>A | CA420250004 | HJV | c.1242C>T (p.Leu414=) c.564C>T (p.Leu188=) c.903C>T (p.Leu301=) | |
| 1 | g.146018116G>C | CA420250006 | HJV | c.1242C>G (p.Leu414=) c.564C>G (p.Leu188=) c.903C>G (p.Leu301=) | |
| 1 | g.146018116G>T | CA420250005 | HJV | c.1242C>A (p.Leu414=) c.564C>A (p.Leu188=) c.903C>A (p.Leu301=) | |
| 1 | g.146018117A>C | CA342131418 | HJV | c.1241T>G (p.Leu414Arg) c.563T>G (p.Leu188Arg) c.902T>G (p.Leu301Arg) | gnomAD v4 |
| 1 | g.146018117A>G | CA342131420 | HJV | c.1241T>C (p.Leu414Pro) c.563T>C (p.Leu188Pro) c.902T>C (p.Leu301Pro) | gnomAD v4 |
| 1 | g.146018117A>T | CA342131448 | HJV | c.1241T>A (p.Leu414His) c.563T>A (p.Leu188His) c.902T>A (p.Leu301His) | |
| 1 | g.146018118G>A | CA342131452 | HJV | c.1240C>T (p.Leu414Phe) c.562C>T (p.Leu188Phe) c.901C>T (p.Leu301Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018118G>C | CA342131454 | HJV | c.1240C>G (p.Leu414Val) c.562C>G (p.Leu188Val) c.901C>G (p.Leu301Val) | |
| 1 | g.146018118G= | CA1198820846 | HJV | c.1240C= (p.Leu414=) c.562C= (p.Leu188=) c.901C= (p.Leu301=) | |
| 1 | g.146018118G>T | CA342131457 | HJV | c.1240C>A (p.Leu414Ile) c.562C>A (p.Leu188Ile) c.901C>A (p.Leu301Ile) | |
| 1 | g.146018119T>A | CA420250012 | HJV | c.1239A>T (p.Pro413=) c.561A>T (p.Pro187=) c.900A>T (p.Pro300=) | |
| 1 | g.146018119T>C | CA420250015 | HJV | c.1239A>G (p.Pro413=) c.561A>G (p.Pro187=) c.900A>G (p.Pro300=) | |
| 1 | g.146018119T>G | CA420250014 | HJV | c.1239A>C (p.Pro413=) c.561A>C (p.Pro187=) c.900A>C (p.Pro300=) | |
| 1 | g.146018120G>A | CA342131461 | HJV | c.1238C>T (p.Pro413Leu) c.560C>T (p.Pro187Leu) c.899C>T (p.Pro300Leu) | ClinVar dbSNP |
| 1 | g.146018120G>C | CA342131462 | HJV | c.1238C>G (p.Pro413Arg) c.560C>G (p.Pro187Arg) c.899C>G (p.Pro300Arg) | |
| 1 | g.146018120G>T | CA342131465 | HJV | c.1238C>A (p.Pro413Gln) c.560C>A (p.Pro187Gln) c.899C>A (p.Pro300Gln) | |
| 1 | g.146018121G>A | CA1053988 | HJV | c.1237C>T (p.Pro413Ser) c.559C>T (p.Pro187Ser) c.898C>T (p.Pro300Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018121G>C | CA29822800 | HJV | c.1237C>G (p.Pro413Ala) c.559C>G (p.Pro187Ala) c.898C>G (p.Pro300Ala) | |
| 1 | g.146018121G= | CA1148212947 | HJV | c.1237C= (p.Pro413=) c.559C= (p.Pro187=) c.898C= (p.Pro300=) | |
| 1 | g.146018121G>T | CA29822801 | HJV | c.1237C>A (p.Pro413Thr) c.559C>A (p.Pro187Thr) c.898C>A (p.Pro300Thr) | |
| 1 | g.146018122A>C | CA420250016 | HJV | c.1236T>G (p.Ala412=) c.558T>G (p.Ala186=) c.897T>G (p.Ala299=) | |
| 1 | g.146018122A>G | CA420250018 | HJV | c.1236T>C (p.Ala412=) c.558T>C (p.Ala186=) c.897T>C (p.Ala299=) | |
| 1 | g.146018122A>T | CA420250017 | HJV | c.1236T>A (p.Ala412=) c.558T>A (p.Ala186=) c.897T>A (p.Ala299=) | |
| 1 | g.146018123G>A | CA342131485 | HJV | c.1235C>T (p.Ala412Val) c.557C>T (p.Ala186Val) c.896C>T (p.Ala299Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018123G>C | CA342131484 | HJV | c.1235C>G (p.Ala412Gly) c.557C>G (p.Ala186Gly) c.896C>G (p.Ala299Gly) | |
| 1 | g.146018123G= | CA1198820847 | HJV | c.1235C= (p.Ala412=) c.557C= (p.Ala186=) c.896C= (p.Ala299=) | |
| 1 | g.146018123G>T | CA342131483 | HJV | c.1235C>A (p.Ala412Asp) c.557C>A (p.Ala186Asp) c.896C>A (p.Ala299Asp) | |
| 1 | g.146018124C>A | CA29822803 | HJV | c.1234G>T (p.Ala412Ser) c.556G>T (p.Ala186Ser) c.895G>T (p.Ala299Ser) | |
| 1 | g.146018124C= | CA1198820848 | HJV | c.1234G= (p.Ala412=) c.556G= (p.Ala186=) c.895G= (p.Ala299=) | |
| 1 | g.146018124C>G | CA1053987 | HJV | c.1234G>C (p.Ala412Pro) c.556G>C (p.Ala186Pro) c.895G>C (p.Ala299Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018124C>T | CA1053986 | HJV | c.1234G>A (p.Ala412Thr) c.556G>A (p.Ala186Thr) c.895G>A (p.Ala299Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018125T>A | CA342131487 | HJV | c.1233A>T (p.Leu411Phe) c.555A>T (p.Leu185Phe) c.894A>T (p.Leu298Phe) | |
| 1 | g.146018125T>C | CA420250023 | HJV | c.1233A>G (p.Leu411=) c.555A>G (p.Leu185=) c.894A>G (p.Leu298=) | |
| 1 | g.146018125T>G | CA342131493 | HJV | c.1233A>C (p.Leu411Phe) c.555A>C (p.Leu185Phe) c.894A>C (p.Leu298Phe) | |
| 1 | g.146018126A>C | CA342131510 | HJV | c.1232T>G (p.Leu411Ter) c.554T>G (p.Leu185Ter) c.893T>G (p.Leu298Ter) | |
| 1 | g.146018126A>G | CA342131520 | HJV | c.1232T>C (p.Leu411Ser) c.554T>C (p.Leu185Ser) c.893T>C (p.Leu298Ser) | |
| 1 | g.146018126A>T | CA342131523 | HJV | c.1232T>A (p.Leu411Ter) c.554T>A (p.Leu185Ter) c.893T>A (p.Leu298Ter) | |
| 1 | g.146018127A>C | CA342131527 | HJV | c.1231T>G (p.Leu411Val) c.553T>G (p.Leu185Val) c.892T>G (p.Leu298Val) | |
| 1 | g.146018127A>G | CA420250025 | HJV | c.1231T>C (p.Leu411=) c.553T>C (p.Leu185=) c.892T>C (p.Leu298=) | |
| 1 | g.146018127A>T | CA342131539 | HJV | c.1231T>A (p.Leu411Ile) c.553T>A (p.Leu185Ile) c.892T>A (p.Leu298Ile) | |
| 1 | g.146018128G>A | CA420250028 | HJV | c.1230C>T (p.Leu410=) c.552C>T (p.Leu184=) c.891C>T (p.Leu297=) |