| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.67811606C>A | CA377098709 | DNAJC12 | c.215G>T (p.Arg72Leu) c.*234G>T (n.*234G>T) c.*135G>T (n.*135G>T) c.305G>T (p.Arg102Leu) c.245G>T (p.Arg82Leu) c.-32G>T (n.-32G>T) | gnomAD v4 |
| 10 | g.67811606C= | CA1917049497 | DNAJC12 | c.215G= (p.Arg72=) c.*234G= (n.*234G=) c.*135G= (n.*135G=) c.305G= (p.Arg102=) c.245G= (p.Arg82=) c.-32G= (n.-32G=) | |
| 10 | g.67811606C>G | CA16609234 | DNAJC12 | c.215G>C (p.Arg72Pro) c.*234G>C (n.*234G>C) c.*135G>C (n.*135G>C) c.305G>C (p.Arg102Pro) c.245G>C (p.Arg82Pro) c.-32G>C (n.-32G>C) | ClinVar dbSNP COSMIC COSMIC |
| 10 | g.67811606C>T | CA209166007 | DNAJC12 | c.215G>A (p.Arg72Gln) c.*234G>A (n.*234G>A) c.*135G>A (n.*135G>A) c.305G>A (p.Arg102Gln) c.245G>A (p.Arg82Gln) c.-32G>A (n.-32G>A) | dbSNP gnomAD v4 |
| 10 | g.67811607G>A | CA5520878 | DNAJC12 | c.214C>T (p.Arg72Ter) c.*233C>T (n.*233C>T) c.*134C>T (n.*134C>T) c.304C>T (p.Arg102Ter) c.244C>T (p.Arg82Ter) c.-33C>T (n.-33C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811607G>C | CA377098710 | DNAJC12 | c.214C>G (p.Arg72Gly) c.*233C>G (n.*233C>G) c.*134C>G (n.*134C>G) c.304C>G (p.Arg102Gly) c.244C>G (p.Arg82Gly) c.-33C>G (n.-33C>G) | gnomAD v4 |
| 10 | g.67811607G= | CA1917049498 | DNAJC12 | c.214C= (p.Arg72=) c.*233C= (n.*233C=) c.*134C= (n.*134C=) c.304C= (p.Arg102=) c.244C= (p.Arg82=) c.-33C= (n.-33C=) | |
| 10 | g.67811607G>T | CA469970080 | DNAJC12 | c.214C>A (p.Arg72=) c.*233C>A (n.*233C>A) c.*134C>A (n.*134C>A) c.304C>A (p.Arg102=) c.244C>A (p.Arg82=) c.-33C>A (n.-33C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811608A>C | CA377098712 | DNAJC12 | c.213T>G (p.Ser71Arg) c.*232T>G (n.*232T>G) c.*133T>G (n.*133T>G) c.303T>G (p.Ser101Arg) c.243T>G (p.Ser81Arg) c.-34T>G (n.-34T>G) | |
| 10 | g.67811608A>G | CA469970085 | DNAJC12 | c.213T>C (p.Ser71=) c.*232T>C (n.*232T>C) c.*133T>C (n.*133T>C) c.303T>C (p.Ser101=) c.243T>C (p.Ser81=) c.-34T>C (n.-34T>C) | |
| 10 | g.67811608A>T | CA377098713 | DNAJC12 | c.213T>A (p.Ser71Arg) c.*232T>A (n.*232T>A) c.*133T>A (n.*133T>A) c.303T>A (p.Ser101Arg) c.243T>A (p.Ser81Arg) c.-34T>A (n.-34T>A) | |
| 10 | g.67811609C>A | CA377098714 | DNAJC12 | c.212G>T (p.Ser71Ile) c.*231G>T (n.*231G>T) c.*132G>T (n.*132G>T) c.302G>T (p.Ser101Ile) c.242G>T (p.Ser81Ile) c.-35G>T (n.-35G>T) | |
| 10 | g.67811609C>G | CA377098715 | DNAJC12 | c.212G>C (p.Ser71Thr) c.*231G>C (n.*231G>C) c.*132G>C (n.*132G>C) c.302G>C (p.Ser101Thr) c.242G>C (p.Ser81Thr) c.-35G>C (n.-35G>C) | |
| 10 | g.67811609C>T | CA377098716 | DNAJC12 | c.212G>A (p.Ser71Asn) c.*231G>A (n.*231G>A) c.*132G>A (n.*132G>A) c.302G>A (p.Ser101Asn) c.242G>A (p.Ser81Asn) c.-35G>A (n.-35G>A) | |
| 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.67811610T>A | CA377098717 | DNAJC12 | c.211A>T (p.Ser71Cys) c.*230A>T (n.*230A>T) c.*131A>T (n.*131A>T) c.301A>T (p.Ser101Cys) c.241A>T (p.Ser81Cys) c.-36A>T (n.-36A>T) | |
| 10 | g.67811610T>C | CA377098718 | DNAJC12 | c.211A>G (p.Ser71Gly) c.*230A>G (n.*230A>G) c.*131A>G (n.*131A>G) c.301A>G (p.Ser101Gly) c.241A>G (p.Ser81Gly) c.-36A>G (n.-36A>G) | dbSNP |
| 10 | g.67811610T>G | CA377098719 | DNAJC12 | c.211A>C (p.Ser71Arg) c.*230A>C (n.*230A>C) c.*131A>C (n.*131A>C) c.301A>C (p.Ser101Arg) c.241A>C (p.Ser81Arg) c.-36A>C (n.-36A>C) | |
| 10 | g.67811610T= | CA1917049499 | DNAJC12 | c.211A= (p.Ser71=) c.*230A= (n.*230A=) c.*131A= (n.*131A=) c.301A= (p.Ser101=) c.241A= (p.Ser81=) c.-36A= (n.-36A=) | |
| 10 | g.67811611C>A | CA377098721 | DNAJC12 | c.210G>T (p.Glu70Asp) c.*229G>T (n.*229G>T) c.*130G>T (n.*130G>T) c.300G>T (p.Glu100Asp) c.240G>T (p.Glu80Asp) c.-37G>T (n.-37G>T) | |
| 10 | g.67811611C= | CA1917049500 | DNAJC12 | c.210G= (p.Glu70=) c.*229G= (n.*229G=) c.*130G= (n.*130G=) c.300G= (p.Glu100=) c.240G= (p.Glu80=) c.-37G= (n.-37G=) | |
| 10 | g.67811611C>G | CA209166008 | DNAJC12 | c.210G>C (p.Glu70Asp) c.*229G>C (n.*229G>C) c.*130G>C (n.*130G>C) c.300G>C (p.Glu100Asp) c.240G>C (p.Glu80Asp) c.-37G>C (n.-37G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811611C>T | CA469970086 | DNAJC12 | c.210G>A (p.Glu70=) c.*229G>A (n.*229G>A) c.*130G>A (n.*130G>A) c.300G>A (p.Glu100=) c.240G>A (p.Glu80=) c.-37G>A (n.-37G>A) | |
| 10 | g.67811612T>A | CA377098722 | DNAJC12 | c.209A>T (p.Glu70Val) c.*228A>T (n.*228A>T) c.*129A>T (n.*129A>T) c.299A>T (p.Glu100Val) c.239A>T (p.Glu80Val) c.-38A>T (n.-38A>T) | |
| 10 | g.67811612T>C | CA377098724 | DNAJC12 | c.209A>G (p.Glu70Gly) c.*228A>G (n.*228A>G) c.*129A>G (n.*129A>G) c.299A>G (p.Glu100Gly) c.239A>G (p.Glu80Gly) c.-38A>G (n.-38A>G) | |
| 10 | g.67811612T>G | CA377098723 | DNAJC12 | c.209A>C (p.Glu70Ala) c.*228A>C (n.*228A>C) c.*129A>C (n.*129A>C) c.299A>C (p.Glu100Ala) c.239A>C (p.Glu80Ala) c.-38A>C (n.-38A>C) | |
| 10 | g.67811612dup | CA5520879 | DNAJC12 | c.209dup (p.Ser71GlufsTer6) c.*228dup (n.*228dup) c.*129dup (n.*129dup) c.299dup (p.Ser101GlufsTer6) c.239dup (p.Ser81GlufsTer6) c.-38dup (n.-38dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811613C>A | CA377098725 | DNAJC12 | c.208G>T (p.Glu70Ter) c.*227G>T (n.*227G>T) c.*128G>T (n.*128G>T) c.298G>T (p.Glu100Ter) c.238G>T (p.Glu80Ter) c.-39G>T (n.-39G>T) | |
| 10 | g.67811613C>G | CA377098726 | DNAJC12 | c.208G>C (p.Glu70Gln) c.*227G>C (n.*227G>C) c.*128G>C (n.*128G>C) c.298G>C (p.Glu100Gln) c.238G>C (p.Glu80Gln) c.-39G>C (n.-39G>C) | |
| 10 | g.67811613C>T | CA377098727 | DNAJC12 | c.208G>A (p.Glu70Lys) c.*227G>A (n.*227G>A) c.*128G>A (n.*128G>A) c.298G>A (p.Glu100Lys) c.238G>A (p.Glu80Lys) c.-39G>A (n.-39G>A) | |
| 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) |