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 |
|---|---|---|---|---|---|
| X | g.46501241del | CA2693540706 | ZNF674 | c.334del (p.Asp112MetfsTer23) c.331del (p.Asp111MetfsTer23) c.349del (p.Asp117MetfsTer23) c.346del (p.Asp116MetfsTer23) c.241del (p.Asp81MetfsTer23) c.148del (p.Asp50MetfsTer23) c.145del (p.Asp49MetfsTer23) | gnomAD v4 |
| X | g.46501241C>A | CA413031386 | ZNF674 | c.333G>T (p.Lys111Asn) c.330G>T (p.Lys110Asn) c.348G>T (p.Lys116Asn) c.345G>T (p.Lys115Asn) c.240G>T (p.Lys80Asn) c.147G>T (p.Lys49Asn) c.144G>T (p.Lys48Asn) | |
| X | g.46501241C= | CA2427618951 | ZNF674 | c.333G= (p.Lys111=) c.330G= (p.Lys110=) c.348G= (p.Lys116=) c.345G= (p.Lys115=) c.240G= (p.Lys80=) c.147G= (p.Lys49=) c.144G= (p.Lys48=) | |
| X | g.46501241C>G | CA413031387 | ZNF674 | c.333G>C (p.Lys111Asn) c.330G>C (p.Lys110Asn) c.348G>C (p.Lys116Asn) c.345G>C (p.Lys115Asn) c.240G>C (p.Lys80Asn) c.147G>C (p.Lys49Asn) c.144G>C (p.Lys48Asn) | |
| X | g.46501241C>T | CA516369408 | ZNF674 | c.333G>A (p.Lys111=) c.330G>A (p.Lys110=) c.348G>A (p.Lys116=) c.345G>A (p.Lys115=) c.240G>A (p.Lys80=) c.147G>A (p.Lys49=) c.144G>A (p.Lys48=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.46501242T>A | CA413031388 | ZNF674 | c.332A>T (p.Lys111Met) c.329A>T (p.Lys110Met) c.347A>T (p.Lys116Met) c.344A>T (p.Lys115Met) c.239A>T (p.Lys80Met) c.146A>T (p.Lys49Met) c.143A>T (p.Lys48Met) | |
| X | g.46501242T>C | CA413031389 | ZNF674 | c.332A>G (p.Lys111Arg) c.329A>G (p.Lys110Arg) c.347A>G (p.Lys116Arg) c.344A>G (p.Lys115Arg) c.239A>G (p.Lys80Arg) c.146A>G (p.Lys49Arg) c.143A>G (p.Lys48Arg) | |
| X | g.46501242T>G | CA413031390 | ZNF674 | c.332A>C (p.Lys111Thr) c.329A>C (p.Lys110Thr) c.347A>C (p.Lys116Thr) c.344A>C (p.Lys115Thr) c.239A>C (p.Lys80Thr) c.146A>C (p.Lys49Thr) c.143A>C (p.Lys48Thr) | |
| X | g.46501243T>A | CA413031391 | ZNF674 | c.331A>T (p.Lys111Ter) c.328A>T (p.Lys110Ter) c.346A>T (p.Lys116Ter) c.343A>T (p.Lys115Ter) c.238A>T (p.Lys80Ter) c.145A>T (p.Lys49Ter) c.142A>T (p.Lys48Ter) | gnomAD v4 |
| X | g.46501243T>C | CA413031392 | ZNF674 | c.331A>G (p.Lys111Glu) c.328A>G (p.Lys110Glu) c.346A>G (p.Lys116Glu) c.343A>G (p.Lys115Glu) c.238A>G (p.Lys80Glu) c.145A>G (p.Lys49Glu) c.142A>G (p.Lys48Glu) | |
| X | g.46501243T>G | CA413031393 | ZNF674 | c.331A>C (p.Lys111Gln) c.328A>C (p.Lys110Gln) c.346A>C (p.Lys116Gln) c.343A>C (p.Lys115Gln) c.238A>C (p.Lys80Gln) c.145A>C (p.Lys49Gln) c.142A>C (p.Lys48Gln) | |
| X | g.46501244C>A | CA516369413 | ZNF674 | c.330G>T (p.Leu110=) c.327G>T (p.Leu109=) c.345G>T (p.Leu115=) c.342G>T (p.Leu114=) c.237G>T (p.Leu79=) c.144G>T (p.Leu48=) c.141G>T (p.Leu47=) | |
| X | g.46501244C>G | CA516369414 | ZNF674 | c.330G>C (p.Leu110=) c.327G>C (p.Leu109=) c.345G>C (p.Leu115=) c.342G>C (p.Leu114=) c.237G>C (p.Leu79=) c.144G>C (p.Leu48=) c.141G>C (p.Leu47=) | |
| X | g.46501244C>T | CA516369415 | ZNF674 | c.330G>A (p.Leu110=) c.327G>A (p.Leu109=) c.345G>A (p.Leu115=) c.342G>A (p.Leu114=) c.237G>A (p.Leu79=) c.144G>A (p.Leu48=) c.141G>A (p.Leu47=) | |
| X | g.46501245A>C | CA413031394 | ZNF674 | c.329T>G (p.Leu110Arg) c.326T>G (p.Leu109Arg) c.344T>G (p.Leu115Arg) c.341T>G (p.Leu114Arg) c.236T>G (p.Leu79Arg) c.143T>G (p.Leu48Arg) c.140T>G (p.Leu47Arg) | |
| X | g.46501245A>G | CA413031395 | ZNF674 | c.329T>C (p.Leu110Pro) c.326T>C (p.Leu109Pro) c.344T>C (p.Leu115Pro) c.341T>C (p.Leu114Pro) c.236T>C (p.Leu79Pro) c.143T>C (p.Leu48Pro) c.140T>C (p.Leu47Pro) | |
| X | g.46501245A>T | CA413031396 | ZNF674 | c.329T>A (p.Leu110Gln) c.326T>A (p.Leu109Gln) c.344T>A (p.Leu115Gln) c.341T>A (p.Leu114Gln) c.236T>A (p.Leu79Gln) c.143T>A (p.Leu48Gln) c.140T>A (p.Leu47Gln) | |
| X | g.46501246G>A | CA516369418 | ZNF674 | c.328C>T (p.Leu110=) c.325C>T (p.Leu109=) c.343C>T (p.Leu115=) c.340C>T (p.Leu114=) c.235C>T (p.Leu79=) c.142C>T (p.Leu48=) c.139C>T (p.Leu47=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.46501246G>C | CA413031397 | ZNF674 | c.328C>G (p.Leu110Val) c.325C>G (p.Leu109Val) c.343C>G (p.Leu115Val) c.340C>G (p.Leu114Val) c.235C>G (p.Leu79Val) c.142C>G (p.Leu48Val) c.139C>G (p.Leu47Val) | |
| X | g.46501246G= | CA2427618952 | ZNF674 | c.328C= (p.Leu110=) c.325C= (p.Leu109=) c.343C= (p.Leu115=) c.340C= (p.Leu114=) c.235C= (p.Leu79=) c.142C= (p.Leu48=) c.139C= (p.Leu47=) | |
| X | g.46501246G>T | CA413031398 | ZNF674 | c.328C>A (p.Leu110Met) c.325C>A (p.Leu109Met) c.343C>A (p.Leu115Met) c.340C>A (p.Leu114Met) c.235C>A (p.Leu79Met) c.142C>A (p.Leu48Met) c.139C>A (p.Leu47Met) | |
| X | g.46501247T>A | CA516369419 | ZNF674 | c.327A>T (p.Thr109=) c.324A>T (p.Thr108=) c.342A>T (p.Thr114=) c.339A>T (p.Thr113=) c.234A>T (p.Thr78=) c.141A>T (p.Thr47=) c.138A>T (p.Thr46=) | |
| X | g.46501247T>C | CA516369420 | ZNF674 | c.327A>G (p.Thr109=) c.324A>G (p.Thr108=) c.342A>G (p.Thr114=) c.339A>G (p.Thr113=) c.234A>G (p.Thr78=) c.141A>G (p.Thr47=) c.138A>G (p.Thr46=) | |
| X | g.46501247T>G | CA516369421 | ZNF674 | c.327A>C (p.Thr109=) c.324A>C (p.Thr108=) c.342A>C (p.Thr114=) c.339A>C (p.Thr113=) c.234A>C (p.Thr78=) c.141A>C (p.Thr47=) c.138A>C (p.Thr46=) | |
| X | g.46501248G>A | CA413031401 | ZNF674 | c.326C>T (p.Thr109Ile) c.323C>T (p.Thr108Ile) c.341C>T (p.Thr114Ile) c.338C>T (p.Thr113Ile) c.233C>T (p.Thr78Ile) c.140C>T (p.Thr47Ile) c.137C>T (p.Thr46Ile) | gnomAD v4 |
| X | g.46501248G>C | CA413031400 | ZNF674 | c.326C>G (p.Thr109Arg) c.323C>G (p.Thr108Arg) c.341C>G (p.Thr114Arg) c.338C>G (p.Thr113Arg) c.233C>G (p.Thr78Arg) c.140C>G (p.Thr47Arg) c.137C>G (p.Thr46Arg) | |
| X | g.46501248G>T | CA413031399 | ZNF674 | c.326C>A (p.Thr109Lys) c.323C>A (p.Thr108Lys) c.341C>A (p.Thr114Lys) c.338C>A (p.Thr113Lys) c.233C>A (p.Thr78Lys) c.140C>A (p.Thr47Lys) c.137C>A (p.Thr46Lys) | |
| X | g.46501249T>A | CA413031402 | ZNF674 | c.325A>T (p.Thr109Ser) c.322A>T (p.Thr108Ser) c.340A>T (p.Thr114Ser) c.337A>T (p.Thr113Ser) c.232A>T (p.Thr78Ser) c.139A>T (p.Thr47Ser) c.136A>T (p.Thr46Ser) | |
| X | g.46501249T>C | CA413031403 | ZNF674 | c.325A>G (p.Thr109Ala) c.322A>G (p.Thr108Ala) c.340A>G (p.Thr114Ala) c.337A>G (p.Thr113Ala) c.232A>G (p.Thr78Ala) c.139A>G (p.Thr47Ala) c.136A>G (p.Thr46Ala) | |
| X | g.46501249T>G | CA413031404 | ZNF674 | c.325A>C (p.Thr109Pro) c.322A>C (p.Thr108Pro) c.340A>C (p.Thr114Pro) c.337A>C (p.Thr113Pro) c.232A>C (p.Thr78Pro) c.139A>C (p.Thr47Pro) c.136A>C (p.Thr46Pro) | |
| X | g.46501250T>A | CA413031405 | ZNF674 | c.324A>T (p.Glu108Asp) c.321A>T (p.Glu107Asp) c.339A>T (p.Glu113Asp) c.336A>T (p.Glu112Asp) c.231A>T (p.Glu77Asp) c.138A>T (p.Glu46Asp) c.135A>T (p.Glu45Asp) | |
| X | g.46501250T>C | CA516369426 | ZNF674 | c.324A>G (p.Glu108=) c.321A>G (p.Glu107=) c.339A>G (p.Glu113=) c.336A>G (p.Glu112=) c.231A>G (p.Glu77=) c.138A>G (p.Glu46=) c.135A>G (p.Glu45=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.46501250T>G | CA413031406 | ZNF674 | c.324A>C (p.Glu108Asp) c.321A>C (p.Glu107Asp) c.339A>C (p.Glu113Asp) c.336A>C (p.Glu112Asp) c.231A>C (p.Glu77Asp) c.138A>C (p.Glu46Asp) c.135A>C (p.Glu45Asp) | dbSNP gnomAD v2 |
| X | g.46501250T= | CA2427618953 | ZNF674 | c.324A= (p.Glu108=) c.321A= (p.Glu107=) c.339A= (p.Glu113=) c.336A= (p.Glu112=) c.231A= (p.Glu77=) c.138A= (p.Glu46=) c.135A= (p.Glu45=) | |
| X | g.46501251T>A | CA413031407 | ZNF674 | c.323A>T (p.Glu108Val) c.320A>T (p.Glu107Val) c.338A>T (p.Glu113Val) c.335A>T (p.Glu112Val) c.230A>T (p.Glu77Val) c.137A>T (p.Glu46Val) c.134A>T (p.Glu45Val) | |
| X | g.46501251T>C | CA413031408 | ZNF674 | c.323A>G (p.Glu108Gly) c.320A>G (p.Glu107Gly) c.338A>G (p.Glu113Gly) c.335A>G (p.Glu112Gly) c.230A>G (p.Glu77Gly) c.137A>G (p.Glu46Gly) c.134A>G (p.Glu45Gly) | |
| X | g.46501251T>G | CA413031409 | ZNF674 | c.323A>C (p.Glu108Ala) c.320A>C (p.Glu107Ala) c.338A>C (p.Glu113Ala) c.335A>C (p.Glu112Ala) c.230A>C (p.Glu77Ala) c.137A>C (p.Glu46Ala) c.134A>C (p.Glu45Ala) | |
| X | g.46501252C>A | CA413031410 | ZNF674 | c.322G>T (p.Glu108Ter) c.319G>T (p.Glu107Ter) c.337G>T (p.Glu113Ter) c.334G>T (p.Glu112Ter) c.229G>T (p.Glu77Ter) c.136G>T (p.Glu46Ter) c.133G>T (p.Glu45Ter) | |
| X | g.46501252C>G | CA413031411 | ZNF674 | c.322G>C (p.Glu108Gln) c.319G>C (p.Glu107Gln) c.337G>C (p.Glu113Gln) c.334G>C (p.Glu112Gln) c.229G>C (p.Glu77Gln) c.136G>C (p.Glu46Gln) c.133G>C (p.Glu45Gln) | |
| X | g.46501252C>T | CA413031412 | ZNF674 | c.322G>A (p.Glu108Lys) c.319G>A (p.Glu107Lys) c.337G>A (p.Glu113Lys) c.334G>A (p.Glu112Lys) c.229G>A (p.Glu77Lys) c.136G>A (p.Glu46Lys) c.133G>A (p.Glu45Lys) | |
| X | g.46501253C>A | CA413031413 | ZNF674 | c.321G>T (p.Lys107Asn) c.318G>T (p.Lys106Asn) c.336G>T (p.Lys112Asn) c.333G>T (p.Lys111Asn) c.228G>T (p.Lys76Asn) c.135G>T (p.Lys45Asn) c.132G>T (p.Lys44Asn) | |
| X | g.46501253C>G | CA413031414 | ZNF674 | c.321G>C (p.Lys107Asn) c.318G>C (p.Lys106Asn) c.336G>C (p.Lys112Asn) c.333G>C (p.Lys111Asn) c.228G>C (p.Lys76Asn) c.135G>C (p.Lys45Asn) c.132G>C (p.Lys44Asn) | |
| X | g.46501253C>T | CA516369427 | ZNF674 | c.321G>A (p.Lys107=) c.318G>A (p.Lys106=) c.336G>A (p.Lys112=) c.333G>A (p.Lys111=) c.228G>A (p.Lys76=) c.135G>A (p.Lys45=) c.132G>A (p.Lys44=) | gnomAD v4 |
| X | g.46501254T>A | CA413031417 | ZNF674 | c.320A>T (p.Lys107Met) c.317A>T (p.Lys106Met) c.335A>T (p.Lys112Met) c.332A>T (p.Lys111Met) c.227A>T (p.Lys76Met) c.134A>T (p.Lys45Met) c.131A>T (p.Lys44Met) | |
| X | g.46501254T>C | CA413031416 | ZNF674 | c.320A>G (p.Lys107Arg) c.317A>G (p.Lys106Arg) c.335A>G (p.Lys112Arg) c.332A>G (p.Lys111Arg) c.227A>G (p.Lys76Arg) c.134A>G (p.Lys45Arg) c.131A>G (p.Lys44Arg) | |
| X | g.46501254T>G | CA413031415 | ZNF674 | c.320A>C (p.Lys107Thr) c.317A>C (p.Lys106Thr) c.335A>C (p.Lys112Thr) c.332A>C (p.Lys111Thr) c.227A>C (p.Lys76Thr) c.134A>C (p.Lys45Thr) c.131A>C (p.Lys44Thr) | |
| X | g.46501255T>A | CA413031420 | ZNF674 | c.319A>T (p.Lys107Ter) c.316A>T (p.Lys106Ter) c.334A>T (p.Lys112Ter) c.331A>T (p.Lys111Ter) c.226A>T (p.Lys76Ter) c.133A>T (p.Lys45Ter) c.130A>T (p.Lys44Ter) | |
| X | g.46501255T>C | CA413031418 | ZNF674 | c.319A>G (p.Lys107Glu) c.316A>G (p.Lys106Glu) c.334A>G (p.Lys112Glu) c.331A>G (p.Lys111Glu) c.226A>G (p.Lys76Glu) c.133A>G (p.Lys45Glu) c.130A>G (p.Lys44Glu) | |
| X | g.46501255T>G | CA413031419 | ZNF674 | c.319A>C (p.Lys107Gln) c.316A>C (p.Lys106Gln) c.334A>C (p.Lys112Gln) c.331A>C (p.Lys111Gln) c.226A>C (p.Lys76Gln) c.133A>C (p.Lys45Gln) c.130A>C (p.Lys44Gln) | |
| X | g.46501256G>A | CA516369435 | ZNF674 | c.318C>T (p.Gly106=) c.315C>T (p.Gly105=) c.333C>T (p.Gly111=) c.330C>T (p.Gly110=) c.225C>T (p.Gly75=) c.132C>T (p.Gly44=) c.129C>T (p.Gly43=) |