WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52033067A>C | CA450419875 | PKHD1 | c.3327T>G (p.Val1109=) c.2616T>G (p.Val872=) c.3252T>G (p.Val1084=) c.1467T>G (p.Val489=) n.3603T>G | gnomAD v4 |
| 6 | g.52033067A>G | CA450419876 | PKHD1 | c.3327T>C (p.Val1109=) c.2616T>C (p.Val872=) c.3252T>C (p.Val1084=) c.1467T>C (p.Val489=) n.3603T>C | |
| 6 | g.52033067A>T | CA450419877 | PKHD1 | c.3327T>A (p.Val1109=) c.2616T>A (p.Val872=) c.3252T>A (p.Val1084=) c.1467T>A (p.Val489=) n.3603T>A | |
| 6 | g.52033068A>C | CA364441281 | PKHD1 | c.3326T>G (p.Val1109Gly) c.2615T>G (p.Val872Gly) c.3251T>G (p.Val1084Gly) c.1466T>G (p.Val489Gly) n.3602T>G | |
| 6 | g.52033068A>G | CA364441283 | PKHD1 | c.3326T>C (p.Val1109Ala) c.2615T>C (p.Val872Ala) c.3251T>C (p.Val1084Ala) c.1466T>C (p.Val489Ala) n.3602T>C | |
| 6 | g.52033068A>T | CA364441284 | PKHD1 | c.3326T>A (p.Val1109Asp) c.2615T>A (p.Val872Asp) c.3251T>A (p.Val1084Asp) c.1466T>A (p.Val489Asp) n.3602T>A | |
| 6 | g.52033069C>A | CA364441286 | PKHD1 | c.3325G>T (p.Val1109Phe) c.2614G>T (p.Val872Phe) c.3250G>T (p.Val1084Phe) c.1465G>T (p.Val489Phe) n.3601G>T | |
| 6 | g.52033069C= | CA1628608450 | PKHD1 | c.3325G= (p.Val1109=) c.2614G= (p.Val872=) c.3250G= (p.Val1084=) c.1465G= (p.Val489=) n.3601G= | |
| 6 | g.52033069C>G | CA364441287 | PKHD1 | c.3325G>C (p.Val1109Leu) c.2614G>C (p.Val872Leu) c.3250G>C (p.Val1084Leu) c.1465G>C (p.Val489Leu) n.3601G>C | |
| 6 | g.52033069C>T | CA364441289 | PKHD1 | c.3325G>A (p.Val1109Ile) c.2614G>A (p.Val872Ile) c.3250G>A (p.Val1084Ile) c.1465G>A (p.Val489Ile) n.3601G>A | dbSNP |
| 6 | g.52033070T>A | CA450419878 | PKHD1 | c.3324A>T (p.Pro1108=) c.2613A>T (p.Pro871=) c.3249A>T (p.Pro1083=) c.1464A>T (p.Pro488=) n.3600A>T | |
| 6 | g.52033070T>C | CA3852979 | PKHD1 | c.3324A>G (p.Pro1108=) c.2613A>G (p.Pro871=) c.3249A>G (p.Pro1083=) c.1464A>G (p.Pro488=) n.3600A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52033070T>G | CA450419879 | PKHD1 | c.3324A>C (p.Pro1108=) c.2613A>C (p.Pro871=) c.3249A>C (p.Pro1083=) c.1464A>C (p.Pro488=) n.3600A>C | |
| 6 | g.52033070T= | CA1628608461 | PKHD1 | c.3324A= (p.Pro1108=) c.2613A= (p.Pro871=) c.3249A= (p.Pro1083=) c.1464A= (p.Pro488=) n.3600A= | |
| 6 | g.52033071G>A | CA364441292 | PKHD1 | c.3323C>T (p.Pro1108Leu) c.2612C>T (p.Pro871Leu) c.3248C>T (p.Pro1083Leu) c.1463C>T (p.Pro488Leu) n.3599C>T | |
| 6 | g.52033071G>C | CA364441293 | PKHD1 | c.3323C>G (p.Pro1108Arg) c.2612C>G (p.Pro871Arg) c.3248C>G (p.Pro1083Arg) c.1463C>G (p.Pro488Arg) n.3599C>G | |
| 6 | g.52033071G>T | CA364441295 | PKHD1 | c.3323C>A (p.Pro1108Gln) c.2612C>A (p.Pro871Gln) c.3248C>A (p.Pro1083Gln) c.1463C>A (p.Pro488Gln) n.3599C>A | |
| 6 | g.52033072G>A | CA364441297 | PKHD1 | c.3322C>T (p.Pro1108Ser) c.2611C>T (p.Pro871Ser) c.3247C>T (p.Pro1083Ser) c.1462C>T (p.Pro488Ser) n.3598C>T | COSMIC COSMIC |
| 6 | g.52033072G>C | CA364441298 | PKHD1 | c.3322C>G (p.Pro1108Ala) c.2611C>G (p.Pro871Ala) c.3247C>G (p.Pro1083Ala) c.1462C>G (p.Pro488Ala) n.3598C>G | |
| 6 | g.52033072G>T | CA364441299 | PKHD1 | c.3322C>A (p.Pro1108Thr) c.2611C>A (p.Pro871Thr) c.3247C>A (p.Pro1083Thr) c.1462C>A (p.Pro488Thr) n.3598C>A | |
| 6 | g.52033073A>C | CA364441301 | PKHD1 | c.3321T>G (p.Asn1107Lys) c.2610T>G (p.Asn870Lys) c.3246T>G (p.Asn1082Lys) c.1461T>G (p.Asn487Lys) n.3597T>G | |
| 6 | g.52033073A>G | CA450419880 | PKHD1 | c.3321T>C (p.Asn1107=) c.2610T>C (p.Asn870=) c.3246T>C (p.Asn1082=) c.1461T>C (p.Asn487=) n.3597T>C | |
| 6 | g.52033073A>T | CA364441300 | PKHD1 | c.3321T>A (p.Asn1107Lys) c.2610T>A (p.Asn870Lys) c.3246T>A (p.Asn1082Lys) c.1461T>A (p.Asn487Lys) n.3597T>A | |
| 6 | g.52033074T>A | CA364441303 | PKHD1 | c.3320A>T (p.Asn1107Ile) c.2609A>T (p.Asn870Ile) c.3245A>T (p.Asn1082Ile) c.1460A>T (p.Asn487Ile) n.3596A>T | |
| 6 | g.52033074T>C | CA364441305 | PKHD1 | c.3320A>G (p.Asn1107Ser) c.2609A>G (p.Asn870Ser) c.3245A>G (p.Asn1082Ser) c.1460A>G (p.Asn487Ser) n.3596A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52033074T>G | CA364441306 | PKHD1 | c.3320A>C (p.Asn1107Thr) c.2609A>C (p.Asn870Thr) c.3245A>C (p.Asn1082Thr) c.1460A>C (p.Asn487Thr) n.3596A>C | |
| 6 | g.52033074T= | CA1628608467 | PKHD1 | c.3320A= (p.Asn1107=) c.2609A= (p.Asn870=) c.3245A= (p.Asn1082=) c.1460A= (p.Asn487=) n.3596A= | |
| 6 | g.52033075T>A | CA364441307 | PKHD1 | c.3319A>T (p.Asn1107Tyr) c.2608A>T (p.Asn870Tyr) c.3244A>T (p.Asn1082Tyr) c.1459A>T (p.Asn487Tyr) n.3595A>T | |
| 6 | g.52033075T>C | CA364441308 | PKHD1 | c.3319A>G (p.Asn1107Asp) c.2608A>G (p.Asn870Asp) c.3244A>G (p.Asn1082Asp) c.1459A>G (p.Asn487Asp) n.3595A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.52033075T>G | CA364441310 | PKHD1 | c.3319A>C (p.Asn1107His) c.2608A>C (p.Asn870His) c.3244A>C (p.Asn1082His) c.1459A>C (p.Asn487His) n.3595A>C | |
| 6 | g.52033075T= | CA1628608472 | PKHD1 | c.3319A= (p.Asn1107=) c.2608A= (p.Asn870=) c.3244A= (p.Asn1082=) c.1459A= (p.Asn487=) n.3595A= | |
| 6 | g.52033076T>A | CA364441312 | PKHD1 | c.3318A>T (p.Leu1106Phe) c.2607A>T (p.Leu869Phe) c.3243A>T (p.Leu1081Phe) c.1458A>T (p.Leu486Phe) n.3594A>T | |
| 6 | g.52033076T>C | CA450419881 | PKHD1 | c.3318A>G (p.Leu1106=) c.2607A>G (p.Leu869=) c.3243A>G (p.Leu1081=) c.1458A>G (p.Leu486=) n.3594A>G | |
| 6 | g.52033076T>G | CA364441314 | PKHD1 | c.3318A>C (p.Leu1106Phe) c.2607A>C (p.Leu869Phe) c.3243A>C (p.Leu1081Phe) c.1458A>C (p.Leu486Phe) n.3594A>C | |
| 6 | g.52033077A>C | CA364441315 | PKHD1 | c.3317T>G (p.Leu1106Ter) c.2606T>G (p.Leu869Ter) c.3242T>G (p.Leu1081Ter) c.1457T>G (p.Leu486Ter) n.3593T>G | |
| 6 | g.52033077A>G | CA364441317 | PKHD1 | c.3317T>C (p.Leu1106Ser) c.2606T>C (p.Leu869Ser) c.3242T>C (p.Leu1081Ser) c.1457T>C (p.Leu486Ser) n.3593T>C | |
| 6 | g.52033077A>T | CA364441319 | PKHD1 | c.3317T>A (p.Leu1106Ter) c.2606T>A (p.Leu869Ter) c.3242T>A (p.Leu1081Ter) c.1457T>A (p.Leu486Ter) n.3593T>A | |
| 6 | g.52033078A>C | CA364441321 | PKHD1 | c.3316T>G (p.Leu1106Val) c.2605T>G (p.Leu869Val) c.3241T>G (p.Leu1081Val) c.1456T>G (p.Leu486Val) n.3592T>G | |
| 6 | g.52033078A>G | CA450419882 | PKHD1 | c.3316T>C (p.Leu1106=) c.2605T>C (p.Leu869=) c.3241T>C (p.Leu1081=) c.1456T>C (p.Leu486=) n.3592T>C | |
| 6 | g.52033078A>T | CA364441322 | PKHD1 | c.3316T>A (p.Leu1106Ile) c.2605T>A (p.Leu869Ile) c.3241T>A (p.Leu1081Ile) c.1456T>A (p.Leu486Ile) n.3592T>A | |
| 6 | g.52033079G>A | CA450419883 | PKHD1 | c.3315C>T (p.Ser1105=) c.2604C>T (p.Ser868=) c.3240C>T (p.Ser1080=) c.1455C>T (p.Ser485=) n.3591C>T | ClinVar |
| 6 | g.52033079G>C | CA450419884 | PKHD1 | c.3315C>G (p.Ser1105=) c.2604C>G (p.Ser868=) c.3240C>G (p.Ser1080=) c.1455C>G (p.Ser485=) n.3591C>G | |
| 6 | g.52033079G>T | CA450419885 | PKHD1 | c.3315C>A (p.Ser1105=) c.2604C>A (p.Ser868=) c.3240C>A (p.Ser1080=) c.1455C>A (p.Ser485=) n.3591C>A | |
| 6 | g.52033080G>A | CA364441328 | PKHD1 | c.3314C>T (p.Ser1105Phe) c.2603C>T (p.Ser868Phe) c.3239C>T (p.Ser1080Phe) c.1454C>T (p.Ser485Phe) n.3590C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.52033080G>C | CA364441324 | PKHD1 | c.3314C>G (p.Ser1105Cys) c.2603C>G (p.Ser868Cys) c.3239C>G (p.Ser1080Cys) c.1454C>G (p.Ser485Cys) n.3590C>G | |
| 6 | g.52033080G= | CA1628608480 | PKHD1 | c.3314C= (p.Ser1105=) c.2603C= (p.Ser868=) c.3239C= (p.Ser1080=) c.1454C= (p.Ser485=) n.3590C= | |
| 6 | g.52033080G>T | CA364441326 | PKHD1 | c.3314C>A (p.Ser1105Tyr) c.2603C>A (p.Ser868Tyr) c.3239C>A (p.Ser1080Tyr) c.1454C>A (p.Ser485Tyr) n.3590C>A | |
| 6 | g.52033080_52033081delinsGA | CA1628608475 | PKHD1 | c.3313_3314delinsTC (p.Ser1105=) c.2602_2603delinsTC (p.Ser868=) c.3238_3239delinsTC (p.Ser1080=) c.1453_1454delinsTC (p.Ser485=) n.3589_3590delinsTC | |
| 6 | g.52033081A= | CA1628608493 | PKHD1 | c.3313T= (p.Ser1105=) c.2602T= (p.Ser868=) c.3238T= (p.Ser1080=) c.1453T= (p.Ser485=) n.3589T= | |
| 6 | g.52033081A>C | CA364441330 | PKHD1 | c.3313T>G (p.Ser1105Ala) c.2602T>G (p.Ser868Ala) c.3238T>G (p.Ser1080Ala) c.1453T>G (p.Ser485Ala) n.3589T>G |