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 |
|---|---|---|---|---|---|
| 10 | g.67811613_67811614del | CA2609360353 | DNAJC12 | c.211_212del (p.Arg72SerfsTer4) c.*230_*231del (n.*230_*231del) c.*131_*132del (n.*131_*132del) c.301_302del (p.Arg102SerfsTer4) c.241_242del (p.Arg82SerfsTer4) c.-36_-35del (n.-36_-35del) | gnomAD v4 |
| 10 | g.67811614T>A | CA377098728 | DNAJC12 | c.207A>T (p.Glu69Asp) c.*226A>T (n.*226A>T) c.*127A>T (n.*127A>T) c.297A>T (p.Glu99Asp) c.237A>T (p.Glu79Asp) c.-40A>T (n.-40A>T) | |
| 10 | g.67811614T>C | CA469970087 | DNAJC12 | c.207A>G (p.Glu69=) c.*226A>G (n.*226A>G) c.*127A>G (n.*127A>G) c.297A>G (p.Glu99=) c.237A>G (p.Glu79=) c.-40A>G (n.-40A>G) | |
| 10 | g.67811614T>G | CA5520880 | DNAJC12 | c.207A>C (p.Glu69Asp) c.*226A>C (n.*226A>C) c.*127A>C (n.*127A>C) c.297A>C (p.Glu99Asp) c.237A>C (p.Glu79Asp) c.-40A>C (n.-40A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811614T= | CA1917049501 | DNAJC12 | c.207A= (p.Glu69=) c.*226A= (n.*226A=) c.*127A= (n.*127A=) c.297A= (p.Glu99=) c.237A= (p.Glu79=) c.-40A= (n.-40A=) | |
| 10 | g.67811615T>A | CA377098729 | DNAJC12 | c.206A>T (p.Glu69Val) c.*225A>T (n.*225A>T) c.*126A>T (n.*126A>T) c.296A>T (p.Glu99Val) c.236A>T (p.Glu79Val) c.-41A>T (n.-41A>T) | |
| 10 | g.67811615T>C | CA377098730 | DNAJC12 | c.206A>G (p.Glu69Gly) c.*225A>G (n.*225A>G) c.*126A>G (n.*126A>G) c.296A>G (p.Glu99Gly) c.236A>G (p.Glu79Gly) c.-41A>G (n.-41A>G) | |
| 10 | g.67811615T>G | CA377098731 | DNAJC12 | c.206A>C (p.Glu69Ala) c.*225A>C (n.*225A>C) c.*126A>C (n.*126A>C) c.296A>C (p.Glu99Ala) c.236A>C (p.Glu79Ala) c.-41A>C (n.-41A>C) | |
| 10 | g.67811616C>A | CA377098732 | DNAJC12 | c.205G>T (p.Glu69Ter) c.*224G>T (n.*224G>T) c.*125G>T (n.*125G>T) c.295G>T (p.Glu99Ter) c.235G>T (p.Glu79Ter) c.-42G>T (n.-42G>T) | |
| 10 | g.67811616C= | CA1917049502 | DNAJC12 | c.205G= (p.Glu69=) c.*224G= (n.*224G=) c.*125G= (n.*125G=) c.295G= (p.Glu99=) c.235G= (p.Glu79=) c.-42G= (n.-42G=) | |
| 10 | g.67811616C>G | CA5520881 | DNAJC12 | c.205G>C (p.Glu69Gln) c.*224G>C (n.*224G>C) c.*125G>C (n.*125G>C) c.295G>C (p.Glu99Gln) c.235G>C (p.Glu79Gln) c.-42G>C (n.-42G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811616C>T | CA377098733 | DNAJC12 | c.205G>A (p.Glu69Lys) c.*224G>A (n.*224G>A) c.*125G>A (n.*125G>A) c.295G>A (p.Glu99Lys) c.235G>A (p.Glu79Lys) c.-42G>A (n.-42G>A) | gnomAD v4 |
| 10 | g.67811617A= | CA1917049503 | DNAJC12 | c.204T= (p.Asn68=) c.*223T= (n.*223T=) c.*124T= (n.*124T=) c.294T= (p.Asn98=) c.234T= (p.Asn78=) c.-43T= (n.-43T=) | |
| 10 | g.67811617A>C | CA377098734 | DNAJC12 | c.204T>G (p.Asn68Lys) c.*223T>G (n.*223T>G) c.*124T>G (n.*124T>G) c.294T>G (p.Asn98Lys) c.234T>G (p.Asn78Lys) c.-43T>G (n.-43T>G) | |
| 10 | g.67811617A>G | CA469970088 | DNAJC12 | c.204T>C (p.Asn68=) c.*223T>C (n.*223T>C) c.*124T>C (n.*124T>C) c.294T>C (p.Asn98=) c.234T>C (p.Asn78=) c.-43T>C (n.-43T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.67811617A>T | CA377098735 | DNAJC12 | c.204T>A (p.Asn68Lys) c.*223T>A (n.*223T>A) c.*124T>A (n.*124T>A) c.294T>A (p.Asn98Lys) c.234T>A (p.Asn78Lys) c.-43T>A (n.-43T>A) | |
| 10 | g.67811618T>A | CA377098736 | DNAJC12 | c.203A>T (p.Asn68Ile) c.*222A>T (n.*222A>T) c.*123A>T (n.*123A>T) c.293A>T (p.Asn98Ile) c.233A>T (p.Asn78Ile) c.-44A>T (n.-44A>T) | |
| 10 | g.67811618T>C | CA377098738 | DNAJC12 | c.203A>G (p.Asn68Ser) c.*222A>G (n.*222A>G) c.*123A>G (n.*123A>G) c.293A>G (p.Asn98Ser) c.233A>G (p.Asn78Ser) c.-44A>G (n.-44A>G) | |
| 10 | g.67811618T>G | CA377098737 | DNAJC12 | c.203A>C (p.Asn68Thr) c.*222A>C (n.*222A>C) c.*123A>C (n.*123A>C) c.293A>C (p.Asn98Thr) c.233A>C (p.Asn78Thr) c.-44A>C (n.-44A>C) | |
| 10 | g.67811619T>A | CA377098739 | DNAJC12 | c.202A>T (p.Asn68Tyr) c.*221A>T (n.*221A>T) c.*122A>T (n.*122A>T) c.292A>T (p.Asn98Tyr) c.232A>T (p.Asn78Tyr) c.-45A>T (n.-45A>T) | |
| 10 | g.67811619T>C | CA377098741 | DNAJC12 | c.202A>G (p.Asn68Asp) c.*221A>G (n.*221A>G) c.*122A>G (n.*122A>G) c.292A>G (p.Asn98Asp) c.232A>G (p.Asn78Asp) c.-45A>G (n.-45A>G) | |
| 10 | g.67811619T>G | CA377098740 | DNAJC12 | c.202A>C (p.Asn68His) c.*221A>C (n.*221A>C) c.*122A>C (n.*122A>C) c.292A>C (p.Asn98His) c.232A>C (p.Asn78His) c.-45A>C (n.-45A>C) | |
| 10 | g.67811620G>A | CA469970089 | DNAJC12 | c.201C>T (p.Thr67=) c.*220C>T (n.*220C>T) c.*121C>T (n.*121C>T) c.291C>T (p.Thr97=) c.231C>T (p.Thr77=) c.-46C>T (n.-46C>T) | |
| 10 | g.67811620G>C | CA469970090 | DNAJC12 | c.201C>G (p.Thr67=) c.*220C>G (n.*220C>G) c.*121C>G (n.*121C>G) c.291C>G (p.Thr97=) c.231C>G (p.Thr77=) c.-46C>G (n.-46C>G) | |
| 10 | g.67811620G>T | CA469970091 | DNAJC12 | c.201C>A (p.Thr67=) c.*220C>A (n.*220C>A) c.*121C>A (n.*121C>A) c.291C>A (p.Thr97=) c.231C>A (p.Thr77=) c.-46C>A (n.-46C>A) | |
| 10 | g.67811621G>A | CA377098742 | DNAJC12 | c.200C>T (p.Thr67Ile) c.*219C>T (n.*219C>T) c.*120C>T (n.*120C>T) c.290C>T (p.Thr97Ile) c.230C>T (p.Thr77Ile) c.-47C>T (n.-47C>T) | dbSNP |
| 10 | g.67811621G>C | CA377098743 | DNAJC12 | c.200C>G (p.Thr67Ser) c.*219C>G (n.*219C>G) c.*120C>G (n.*120C>G) c.290C>G (p.Thr97Ser) c.230C>G (p.Thr77Ser) c.-47C>G (n.-47C>G) | |
| 10 | g.67811621G= | CA1917049504 | DNAJC12 | c.200C= (p.Thr67=) c.*219C= (n.*219C=) c.*120C= (n.*120C=) c.290C= (p.Thr97=) c.230C= (p.Thr77=) c.-47C= (n.-47C=) | |
| 10 | g.67811621G>T | CA377098744 | DNAJC12 | c.200C>A (p.Thr67Asn) c.*219C>A (n.*219C>A) c.*120C>A (n.*120C>A) c.290C>A (p.Thr97Asn) c.230C>A (p.Thr77Asn) c.-47C>A (n.-47C>A) | |
| 10 | g.67811622T>A | CA377098745 | DNAJC12 | c.199A>T (p.Thr67Ser) c.*218A>T (n.*218A>T) c.*119A>T (n.*119A>T) c.289A>T (p.Thr97Ser) c.229A>T (p.Thr77Ser) c.-48A>T (n.-48A>T) | |
| 10 | g.67811622T>C | CA377098746 | DNAJC12 | c.199A>G (p.Thr67Ala) c.*218A>G (n.*218A>G) c.*119A>G (n.*119A>G) c.289A>G (p.Thr97Ala) c.229A>G (p.Thr77Ala) c.-48A>G (n.-48A>G) | |
| 10 | g.67811622T>G | CA377098747 | DNAJC12 | c.199A>C (p.Thr67Pro) c.*218A>C (n.*218A>C) c.*119A>C (n.*119A>C) c.289A>C (p.Thr97Pro) c.229A>C (p.Thr77Pro) c.-48A>C (n.-48A>C) | |
| 10 | g.67811623C>A | CA469970092 | DNAJC12 | c.198G>T (p.Leu66=) c.*217G>T (n.*217G>T) c.*118G>T (n.*118G>T) c.288G>T (p.Leu96=) c.228G>T (p.Leu76=) c.-49G>T (n.-49G>T) | gnomAD v4 |
| 10 | g.67811623C>G | CA469970093 | DNAJC12 | c.198G>C (p.Leu66=) c.*217G>C (n.*217G>C) c.*118G>C (n.*118G>C) c.288G>C (p.Leu96=) c.228G>C (p.Leu76=) c.-49G>C (n.-49G>C) | |
| 10 | g.67811623C>T | CA469970094 | DNAJC12 | c.198G>A (p.Leu66=) c.*217G>A (n.*217G>A) c.*118G>A (n.*118G>A) c.288G>A (p.Leu96=) c.228G>A (p.Leu76=) c.-49G>A (n.-49G>A) | |
| 10 | g.67811624A= | CA1917049505 | DNAJC12 | c.197T= (p.Leu66=) c.*216T= (n.*216T=) c.*117T= (n.*117T=) c.287T= (p.Leu96=) c.227T= (p.Leu76=) c.-50T= (n.-50T=) | |
| 10 | g.67811624A>C | CA377098748 | DNAJC12 | c.197T>G (p.Leu66Arg) c.*216T>G (n.*216T>G) c.*117T>G (n.*117T>G) c.287T>G (p.Leu96Arg) c.227T>G (p.Leu76Arg) c.-50T>G (n.-50T>G) | |
| 10 | g.67811624A>G | CA377098749 | DNAJC12 | c.197T>C (p.Leu66Pro) c.*216T>C (n.*216T>C) c.*117T>C (n.*117T>C) c.287T>C (p.Leu96Pro) c.227T>C (p.Leu76Pro) c.-50T>C (n.-50T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.67811624A>T | CA377098750 | DNAJC12 | c.197T>A (p.Leu66Gln) c.*216T>A (n.*216T>A) c.*117T>A (n.*117T>A) c.287T>A (p.Leu96Gln) c.227T>A (p.Leu76Gln) c.-50T>A (n.-50T>A) | |
| 10 | g.67811625G>A | CA469970095 | DNAJC12 | c.196C>T (p.Leu66=) c.*215C>T (n.*215C>T) c.*116C>T (n.*116C>T) c.286C>T (p.Leu96=) c.226C>T (p.Leu76=) c.-51C>T (n.-51C>T) | |
| 10 | g.67811625G>C | CA377098751 | DNAJC12 | c.196C>G (p.Leu66Val) c.*215C>G (n.*215C>G) c.*116C>G (n.*116C>G) c.286C>G (p.Leu96Val) c.226C>G (p.Leu76Val) c.-51C>G (n.-51C>G) | |
| 10 | g.67811625G>T | CA377098752 | DNAJC12 | c.196C>A (p.Leu66Met) c.*215C>A (n.*215C>A) c.*116C>A (n.*116C>A) c.286C>A (p.Leu96Met) c.226C>A (p.Leu76Met) c.-51C>A (n.-51C>A) | |
| 10 | g.67811626A>C | CA377098753 | DNAJC12 | c.195T>G (p.Ile65Met) c.*214T>G (n.*214T>G) c.*115T>G (n.*115T>G) c.285T>G (p.Ile95Met) c.225T>G (p.Ile75Met) c.-52T>G (n.-52T>G) | gnomAD v4 |
| 10 | g.67811626A>G | CA469970096 | DNAJC12 | c.195T>C (p.Ile65=) c.*214T>C (n.*214T>C) c.*115T>C (n.*115T>C) c.285T>C (p.Ile95=) c.225T>C (p.Ile75=) c.-52T>C (n.-52T>C) | |
| 10 | g.67811626A>T | CA469970097 | DNAJC12 | c.195T>A (p.Ile65=) c.*214T>A (n.*214T>A) c.*115T>A (n.*115T>A) c.285T>A (p.Ile95=) c.225T>A (p.Ile75=) c.-52T>A (n.-52T>A) | |
| 10 | g.67811627A= | CA1917049506 | DNAJC12 | c.194T= (p.Ile65=) c.*213T= (n.*213T=) c.*114T= (n.*114T=) c.284T= (p.Ile95=) c.224T= (p.Ile75=) c.-53T= (n.-53T=) | |
| 10 | g.67811627A>C | CA5520882 | DNAJC12 | c.194T>G (p.Ile65Ser) c.*213T>G (n.*213T>G) c.*114T>G (n.*114T>G) c.284T>G (p.Ile95Ser) c.224T>G (p.Ile75Ser) c.-53T>G (n.-53T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.67811627A>G | CA377098754 | DNAJC12 | c.194T>C (p.Ile65Thr) c.*213T>C (n.*213T>C) c.*114T>C (n.*114T>C) c.284T>C (p.Ile95Thr) c.224T>C (p.Ile75Thr) c.-53T>C (n.-53T>C) | dbSNP |
| 10 | g.67811627A>T | CA377098755 | DNAJC12 | c.194T>A (p.Ile65Asn) c.*213T>A (n.*213T>A) c.*114T>A (n.*114T>A) c.284T>A (p.Ile95Asn) c.224T>A (p.Ile75Asn) c.-53T>A (n.-53T>A) | |
| 10 | g.67811628T>A | CA377098756 | DNAJC12 | c.193A>T (p.Ile65Phe) c.*212A>T (n.*212A>T) c.*113A>T (n.*113A>T) c.283A>T (p.Ile95Phe) c.223A>T (p.Ile75Phe) c.-54A>T (n.-54A>T) | dbSNP gnomAD v3 gnomAD v4 |