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 |
|---|---|---|---|---|---|
| 12 | g.121857334T>A | CA387001863 | HPD,TIALD | c.192A>T (p.Gln64His) n.548A>T n.250A>T c.75A>T (p.Gln25His) n.324-285T>A | |
| 12 | g.121857334T>C | CA482174827 | HPD,TIALD | c.192A>G (p.Gln64=) n.548A>G n.250A>G c.75A>G (p.Gln25=) n.324-285T>C | gnomAD v4 |
| 12 | g.121857334T>G | CA6839795 | HPD,TIALD | c.192A>C (p.Gln64His) n.548A>C n.250A>C c.75A>C (p.Gln25His) n.324-285T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121857334T= | CA2068102287 | HPD,TIALD | c.192A= (p.Gln64=) n.548A= n.250A= c.75A= (p.Gln25=) n.324-285T= | |
| 12 | g.121857335del | CA2575327661 | HPD,TIALD | c.192del (p.Lys66ArgfsTer22) n.548del n.250del c.75del (p.Lys27ArgfsTer22) n.324-284del | |
| 12 | g.121857335T>A | CA387001872 | HPD,TIALD | c.191A>T (p.Gln64Leu) n.547A>T n.249A>T c.74A>T (p.Gln25Leu) n.324-284T>A | |
| 12 | g.121857335T>C | CA387001875 | HPD,TIALD | c.191A>G (p.Gln64Arg) n.547A>G n.249A>G c.74A>G (p.Gln25Arg) n.324-284T>C | gnomAD v4 |
| 12 | g.121857335T>G | CA387001879 | HPD,TIALD | c.191A>C (p.Gln64Pro) n.547A>C n.249A>C c.74A>C (p.Gln25Pro) n.324-284T>G | |
| 12 | g.121857336del | CA2575327662 | HPD,TIALD | c.190del (p.Gln64LysfsTer24) n.546del n.248del c.73del (p.Gln25LysfsTer24) n.324-283del | |
| 12 | g.121857336G>A | CA387001885 | HPD,TIALD | c.190C>T (p.Gln64Ter) n.546C>T n.248C>T c.73C>T (p.Gln25Ter) n.324-283G>A | gnomAD v4 |
| 12 | g.121857336G>C | CA387001887 | HPD,TIALD | c.190C>G (p.Gln64Glu) n.546C>G n.248C>G c.73C>G (p.Gln25Glu) n.324-283G>C | |
| 12 | g.121857336G>T | CA387001890 | HPD,TIALD | c.190C>A (p.Gln64Lys) n.546C>A n.248C>A c.73C>A (p.Gln25Lys) n.324-283G>T | |
| 12 | g.121857337T>A | CA387001893 | HPD,TIALD | c.189A>T (p.Lys63Asn) n.545A>T n.247A>T c.72A>T (p.Lys24Asn) n.324-282T>A | |
| 12 | g.121857337T>C | CA482174840 | HPD,TIALD | c.189A>G (p.Lys63=) n.545A>G n.247A>G c.72A>G (p.Lys24=) n.324-282T>C | |
| 12 | g.121857337T>G | CA387001896 | HPD,TIALD | c.189A>C (p.Lys63Asn) n.545A>C n.247A>C c.72A>C (p.Lys24Asn) n.324-282T>G | |
| 12 | g.121857338T>A | CA387001898 | HPD,TIALD | c.188A>T (p.Lys63Ile) n.544A>T n.246A>T c.71A>T (p.Lys24Ile) n.324-281T>A | |
| 12 | g.121857338T>C | CA387001904 | HPD,TIALD | c.188A>G (p.Lys63Arg) n.544A>G n.246A>G c.71A>G (p.Lys24Arg) n.324-281T>C | |
| 12 | g.121857338T>G | CA387001901 | HPD,TIALD | c.188A>C (p.Lys63Thr) n.544A>C n.246A>C c.71A>C (p.Lys24Thr) n.324-281T>G | |
| 12 | g.121857339T>A | CA387001909 | HPD,TIALD | c.187A>T (p.Lys63Ter) n.543A>T n.245A>T c.70A>T (p.Lys24Ter) n.324-280T>A | |
| 12 | g.121857339T>C | CA387001916 | HPD,TIALD | c.187A>G (p.Lys63Glu) n.543A>G n.245A>G c.70A>G (p.Lys24Glu) n.324-280T>C | |
| 12 | g.121857339T>G | CA387001912 | HPD,TIALD | c.187A>C (p.Lys63Gln) n.543A>C n.245A>C c.70A>C (p.Lys24Gln) n.324-280T>G | dbSNP |
| 12 | g.121857339T= | CA2068102293 | HPD,TIALD | c.187A= (p.Lys63=) n.543A= n.245A= c.70A= (p.Lys24=) n.324-280T= | |
| 12 | g.121857340G>A | CA482174852 | HPD,TIALD | c.186C>T (p.Ile62=) n.542C>T n.244C>T c.69C>T (p.Ile23=) n.324-279G>A | |
| 12 | g.121857340G>C | CA387001918 | HPD,TIALD | c.186C>G (p.Ile62Met) n.542C>G n.244C>G c.69C>G (p.Ile23Met) n.324-279G>C | |
| 12 | g.121857340G>T | CA482174853 | HPD,TIALD | c.186C>A (p.Ile62=) n.542C>A n.244C>A c.69C>A (p.Ile23=) n.324-279G>T | |
| 12 | g.121857341A>C | CA387001924 | HPD,TIALD | c.185T>G (p.Ile62Ser) n.541T>G n.243T>G c.68T>G (p.Ile23Ser) n.324-278A>C | |
| 12 | g.121857341A>G | CA387001921 | HPD,TIALD | c.185T>C (p.Ile62Thr) n.541T>C n.243T>C c.68T>C (p.Ile23Thr) n.324-278A>G | |
| 12 | g.121857341A>T | CA387001923 | HPD,TIALD | c.185T>A (p.Ile62Asn) n.541T>A n.243T>A c.68T>A (p.Ile23Asn) n.324-278A>T | |
| 12 | g.121857342T>A | CA387001933 | HPD,TIALD | c.184A>T (p.Ile62Phe) n.540A>T n.242A>T c.67A>T (p.Ile23Phe) n.324-277T>A | |
| 12 | g.121857342T>C | CA387001935 | HPD,TIALD | c.184A>G (p.Ile62Val) n.540A>G n.242A>G c.67A>G (p.Ile23Val) n.324-277T>C | |
| 12 | g.121857342T>G | CA387001937 | HPD,TIALD | c.184A>C (p.Ile62Leu) n.540A>C n.242A>C c.67A>C (p.Ile23Leu) n.324-277T>G | |
| 12 | g.121857343dup | CA2580085910 | HPD,TIALD | c.184dup (p.Ile62AsnfsTer30) n.540dup n.242dup c.67dup (p.Ile23AsnfsTer30) n.324-276dup | ClinVar |
| 12 | g.121857343T>A | CA482174867 | HPD,TIALD | c.183A>T (p.Val61=) n.539A>T n.241A>T c.66A>T (p.Val22=) n.324-276T>A | COSMIC |
| 12 | g.121857343T>C | CA482174870 | HPD,TIALD | c.183A>G (p.Val61=) n.539A>G n.241A>G c.66A>G (p.Val22=) n.324-276T>C | ClinVar |
| 12 | g.121857343T>G | CA482174872 | HPD,TIALD | c.183A>C (p.Val61=) n.539A>C n.241A>C c.66A>C (p.Val22=) n.324-276T>G | |
| 12 | g.121857344A>C | CA387001941 | HPD,TIALD | c.182T>G (p.Val61Gly) n.538T>G n.240T>G c.65T>G (p.Val22Gly) n.324-275A>C | |
| 12 | g.121857344A>G | CA387001945 | HPD,TIALD | c.182T>C (p.Val61Ala) n.538T>C n.240T>C c.65T>C (p.Val22Ala) n.324-275A>G | |
| 12 | g.121857344A>T | CA387001948 | HPD,TIALD | c.182T>A (p.Val61Glu) n.538T>A n.240T>A c.65T>A (p.Val22Glu) n.324-275A>T | |
| 12 | g.121857345C>A | CA387001951 | HPD,TIALD | c.181G>T (p.Val61Leu) n.537G>T n.239G>T c.64G>T (p.Val22Leu) n.324-274C>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121857345C= | CA2068102299 | HPD,TIALD | c.181G= (p.Val61=) n.537G= n.239G= c.64G= (p.Val22=) n.324-274C= | |
| 12 | g.121857345C>G | CA387001955 | HPD,TIALD | c.181G>C (p.Val61Leu) n.537G>C n.239G>C c.64G>C (p.Val22Leu) n.324-274C>G | |
| 12 | g.121857345C>T | CA387001958 | HPD,TIALD | c.181G>A (p.Val61Ile) n.537G>A n.239G>A c.64G>A (p.Val22Ile) n.324-274C>T | |
| 12 | g.121857346A>C | CA387001965 | HPD,TIALD | c.180T>G (p.His60Gln) n.536T>G n.238T>G c.63T>G (p.His21Gln) n.324-273A>C | |
| 12 | g.121857346A>G | CA482174887 | HPD,TIALD | c.180T>C (p.His60=) n.536T>C n.238T>C c.63T>C (p.His21=) n.324-273A>G | gnomAD v4 |
| 12 | g.121857346A>T | CA387001961 | HPD,TIALD | c.180T>A (p.His60Gln) n.536T>A n.238T>A c.63T>A (p.His21Gln) n.324-273A>T | |
| 12 | g.121857347T>A | CA387001969 | HPD,TIALD | c.179A>T (p.His60Leu) n.535A>T n.237A>T c.62A>T (p.His21Leu) n.324-272T>A | |
| 12 | g.121857347T>C | CA6839796 | HPD,TIALD | c.179A>G (p.His60Arg) n.535A>G n.237A>G c.62A>G (p.His21Arg) n.324-272T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121857347T>G | CA387001974 | HPD,TIALD | c.179A>C (p.His60Pro) n.535A>C n.237A>C c.62A>C (p.His21Pro) n.324-272T>G | |
| 12 | g.121857347T= | CA2068102305 | HPD,TIALD | c.179A= (p.His60=) n.535A= n.237A= c.62A= (p.His21=) n.324-272T= | |
| 12 | g.121857348G>A | CA387001978 | HPD,TIALD | c.178C>T (p.His60Tyr) n.534C>T n.236C>T c.61C>T (p.His21Tyr) n.324-271G>A |