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 |
|---|---|---|---|---|---|
| 19 | g.29702833_29702835delinsTGTG | CA2580060375 | C19orf12 | c.303_305delinsCACA (p.Trp101CysfsTer?) n.694_696delinsCACA c.111_113delinsCACA (p.Trp37CysfsTer?) c.336_338delinsCACA (p.Trp112CysfsTer?) c.290+13_290+15delinsCACA (n.290+13_290+15delinsCACA) c.465_467delinsCACA (p.Trp155CysfsTer?) | |
| 19 | g.29702835C>A | CA405142834 | C19orf12 | c.303G>T (p.Trp101Cys) n.694G>T c.111G>T (p.Trp37Cys) c.336G>T (p.Trp112Cys) c.290+13G>T (n.290+13G>T) c.465G>T (p.Trp155Cys) | |
| 19 | g.29702835C= | CA2330913566 | C19orf12 | c.303G= (p.Trp101=) n.694G= c.111G= (p.Trp37=) c.336G= (p.Trp112=) c.290+13G= (n.290+13G=) c.465G= (p.Trp155=) | |
| 19 | g.29702835C>G | CA405142836 | C19orf12 | c.303G>C (p.Trp101Cys) n.694G>C c.111G>C (p.Trp37Cys) c.336G>C (p.Trp112Cys) c.290+13G>C (n.290+13G>C) c.465G>C (p.Trp155Cys) | |
| 19 | g.29702835C>T | CA405142838 | C19orf12 | c.303G>A (p.Trp101Ter) n.694G>A c.111G>A (p.Trp37Ter) c.336G>A (p.Trp112Ter) c.290+13G>A (n.290+13G>A) c.465G>A (p.Trp155Ter) | ClinVar dbSNP |
| 19 | g.29702836C>A | CA405142841 | C19orf12 | c.302G>T (p.Trp101Leu) n.693G>T c.110G>T (p.Trp37Leu) c.335G>T (p.Trp112Leu) c.290+12G>T (n.290+12G>T) c.464G>T (p.Trp155Leu) | |
| 19 | g.29702836C>G | CA405142842 | C19orf12 | c.302G>C (p.Trp101Ser) n.693G>C c.110G>C (p.Trp37Ser) c.335G>C (p.Trp112Ser) c.290+12G>C (n.290+12G>C) c.464G>C (p.Trp155Ser) | |
| 19 | g.29702836C>T | CA405142844 | C19orf12 | c.302G>A (p.Trp101Ter) n.693G>A c.110G>A (p.Trp37Ter) c.335G>A (p.Trp112Ter) c.290+12G>A (n.290+12G>A) c.464G>A (p.Trp155Ter) | |
| 19 | g.29702837A>C | CA405142848 | C19orf12 | c.301T>G (p.Trp101Gly) n.692T>G c.109T>G (p.Trp37Gly) c.334T>G (p.Trp112Gly) c.290+11T>G (n.290+11T>G) c.463T>G (p.Trp155Gly) | |
| 19 | g.29702837A>G | CA405142850 | C19orf12 | c.301T>C (p.Trp101Arg) n.692T>C c.109T>C (p.Trp37Arg) c.334T>C (p.Trp112Arg) c.290+11T>C (n.290+11T>C) c.463T>C (p.Trp155Arg) | |
| 19 | g.29702837A>T | CA405142847 | C19orf12 | c.301T>A (p.Trp101Arg) n.692T>A c.109T>A (p.Trp37Arg) c.334T>A (p.Trp112Arg) c.290+11T>A (n.290+11T>A) c.463T>A (p.Trp155Arg) | |
| 19 | g.29702838C>A | CA405142853 | C19orf12 | c.300G>T (p.Glu100Asp) n.691G>T c.108G>T (p.Glu36Asp) c.333G>T (p.Glu111Asp) c.290+10G>T (n.290+10G>T) c.462G>T (p.Glu154Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.29702838C= | CA2330913567 | C19orf12 | c.300G= (p.Glu100=) n.691G= c.108G= (p.Glu36=) c.333G= (p.Glu111=) c.290+10G= (n.290+10G=) c.462G= (p.Glu154=) | |
| 19 | g.29702838C>G | CA405142855 | C19orf12 | c.300G>C (p.Glu100Asp) n.691G>C c.108G>C (p.Glu36Asp) c.333G>C (p.Glu111Asp) c.290+10G>C (n.290+10G>C) c.462G>C (p.Glu154Asp) | dbSNP |
| 19 | g.29702838C>T | CA506987668 | C19orf12 | c.300G>A (p.Glu100=) n.691G>A c.108G>A (p.Glu36=) c.333G>A (p.Glu111=) c.290+10G>A (n.290+10G>A) c.462G>A (p.Glu154=) | dbSNP |
| 19 | g.29702839T>A | CA405142858 | C19orf12 | c.299A>T (p.Glu100Val) n.690A>T c.107A>T (p.Glu36Val) c.332A>T (p.Glu111Val) c.290+9A>T (n.290+9A>T) c.461A>T (p.Glu154Val) | |
| 19 | g.29702839T>C | CA405142860 | C19orf12 | c.299A>G (p.Glu100Gly) n.690A>G c.107A>G (p.Glu36Gly) c.332A>G (p.Glu111Gly) c.290+9A>G (n.290+9A>G) c.461A>G (p.Glu154Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.29702839T>G | CA405142861 | C19orf12 | c.299A>C (p.Glu100Ala) n.690A>C c.107A>C (p.Glu36Ala) c.332A>C (p.Glu111Ala) c.290+9A>C (n.290+9A>C) c.461A>C (p.Glu154Ala) | |
| 19 | g.29702839T= | CA2330913568 | C19orf12 | c.299A= (p.Glu100=) n.690A= c.107A= (p.Glu36=) c.332A= (p.Glu111=) c.290+9A= (n.290+9A=) c.461A= (p.Glu154=) | |
| 19 | g.29702840C>A | CA405142863 | C19orf12 | c.298G>T (p.Glu100Ter) n.689G>T c.106G>T (p.Glu36Ter) c.331G>T (p.Glu111Ter) c.290+8G>T (n.290+8G>T) c.460G>T (p.Glu154Ter) | |
| 19 | g.29702840C= | CA2330913569 | C19orf12 | c.298G= (p.Glu100=) n.689G= c.106G= (p.Glu36=) c.331G= (p.Glu111=) c.290+8G= (n.290+8G=) c.460G= (p.Glu154=) | |
| 19 | g.29702840C>G | CA405142865 | C19orf12 | c.298G>C (p.Glu100Gln) n.689G>C c.106G>C (p.Glu36Gln) c.331G>C (p.Glu111Gln) c.290+8G>C (n.290+8G>C) c.460G>C (p.Glu154Gln) | |
| 19 | g.29702840C>T | CA306785293 | C19orf12 | c.298G>A (p.Glu100Lys) n.689G>A c.106G>A (p.Glu36Lys) c.331G>A (p.Glu111Lys) c.290+8G>A (n.290+8G>A) c.460G>A (p.Glu154Lys) | dbSNP gnomAD v4 |
| 19 | g.29702841C>A | CA506987681 | C19orf12 | c.297G>T (p.Leu99=) n.688G>T c.105G>T (p.Leu35=) c.330G>T (p.Leu110=) c.290+7G>T (n.290+7G>T) c.459G>T (p.Leu153=) | |
| 19 | g.29702841C>G | CA506987683 | C19orf12 | c.297G>C (p.Leu99=) n.688G>C c.105G>C (p.Leu35=) c.330G>C (p.Leu110=) c.290+7G>C (n.290+7G>C) c.459G>C (p.Leu153=) | |
| 19 | g.29702841C>T | CA506987685 | C19orf12 | c.297G>A (p.Leu99=) n.688G>A c.105G>A (p.Leu35=) c.330G>A (p.Leu110=) c.290+7G>A (n.290+7G>A) c.459G>A (p.Leu153=) | |
| 19 | g.29702842A= | CA2330913570 | C19orf12 | c.296T= (p.Leu99=) c.*210T= (n.*210T=) n.687T= c.104T= (p.Leu35=) c.329T= (p.Leu110=) c.290+6T= (n.290+6T=) c.458T= (p.Leu153=) | |
| 19 | g.29702842A>C | CA405142870 | C19orf12 | c.296T>G (p.Leu99Arg) c.*210T>G (n.*210T>G) n.687T>G c.104T>G (p.Leu35Arg) c.329T>G (p.Leu110Arg) c.290+6T>G (n.290+6T>G) c.458T>G (p.Leu153Arg) | |
| 19 | g.29702842A>G | CA405142874 | C19orf12 | c.296T>C (p.Leu99Pro) c.*210T>C (n.*210T>C) n.687T>C c.104T>C (p.Leu35Pro) c.329T>C (p.Leu110Pro) c.290+6T>C (n.290+6T>C) c.458T>C (p.Leu153Pro) | |
| 19 | g.29702842A>T | CA405142871 | C19orf12 | c.296T>A (p.Leu99Gln) c.*210T>A (n.*210T>A) n.687T>A c.104T>A (p.Leu35Gln) c.329T>A (p.Leu110Gln) c.290+6T>A (n.290+6T>A) c.458T>A (p.Leu153Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.29702843G>A | CA506987695 | C19orf12 | c.295C>T (p.Leu99=) c.*209C>T (n.*209C>T) n.686C>T c.103C>T (p.Leu35=) c.328C>T (p.Leu110=) c.290+5C>T (n.290+5C>T) c.457C>T (p.Leu153=) | |
| 19 | g.29702843G>C | CA405142876 | C19orf12 | c.295C>G (p.Leu99Val) c.*209C>G (n.*209C>G) n.686C>G c.103C>G (p.Leu35Val) c.328C>G (p.Leu110Val) c.290+5C>G (n.290+5C>G) c.457C>G (p.Leu153Val) | |
| 19 | g.29702843G>T | CA405142878 | C19orf12 | c.295C>A (p.Leu99Met) c.*209C>A (n.*209C>A) n.686C>A c.103C>A (p.Leu35Met) c.328C>A (p.Leu110Met) c.290+5C>A (n.290+5C>A) c.457C>A (p.Leu153Met) | |
| 19 | g.29702844G>A | CA506987702 | C19orf12 | c.294C>T (p.His98=) c.*208C>T (n.*208C>T) n.685C>T c.102C>T (p.His34=) c.327C>T (p.His109=) c.290+4C>T (n.290+4C>T) c.456C>T (p.His152=) | gnomAD v4 |
| 19 | g.29702844G>C | CA405142879 | C19orf12 | c.294C>G (p.His98Gln) c.*208C>G (n.*208C>G) n.685C>G c.102C>G (p.His34Gln) c.327C>G (p.His109Gln) c.290+4C>G (n.290+4C>G) c.456C>G (p.His152Gln) | ClinVar dbSNP |
| 19 | g.29702844G>T | CA405142881 | C19orf12 | c.294C>A (p.His98Gln) c.*208C>A (n.*208C>A) n.685C>A c.102C>A (p.His34Gln) c.327C>A (p.His109Gln) c.290+4C>A (n.290+4C>A) c.456C>A (p.His152Gln) | gnomAD v4 |
| 19 | g.29702845T>A | CA405142884 | C19orf12 | c.293A>T (p.His98Leu) c.*207A>T (n.*207A>T) n.684A>T c.101A>T (p.His34Leu) c.326A>T (p.His109Leu) c.290+3A>T (n.290+3A>T) c.455A>T (p.His152Leu) | |
| 19 | g.29702845T>C | CA405142888 | C19orf12 | c.293A>G (p.His98Arg) c.*207A>G (n.*207A>G) n.684A>G c.101A>G (p.His34Arg) c.326A>G (p.His109Arg) c.290+3A>G (n.290+3A>G) c.455A>G (p.His152Arg) | |
| 19 | g.29702845T>G | CA405142885 | C19orf12 | c.293A>C (p.His98Pro) c.*207A>C (n.*207A>C) n.684A>C c.101A>C (p.His34Pro) c.326A>C (p.His109Pro) c.290+3A>C (n.290+3A>C) c.455A>C (p.His152Pro) | |
| 19 | g.29702846G>A | CA405142890 | C19orf12 | c.292C>T (p.His98Tyr) c.*206C>T (n.*206C>T) n.683C>T c.100C>T (p.His34Tyr) c.325C>T (p.His109Tyr) c.290+2C>T (n.290+2C>T) c.454C>T (p.His152Tyr) | |
| 19 | g.29702846G>C | CA405142892 | C19orf12 | c.292C>G (p.His98Asp) c.*206C>G (n.*206C>G) n.683C>G c.100C>G (p.His34Asp) c.325C>G (p.His109Asp) c.290+2C>G (n.290+2C>G) c.454C>G (p.His152Asp) | |
| 19 | g.29702846G= | CA2330913571 | C19orf12 | c.292C= (p.His98=) c.*206C= (n.*206C=) n.683C= c.100C= (p.His34=) c.325C= (p.His109=) c.290+2C= (n.290+2C=) c.454C= (p.His152=) | |
| 19 | g.29702846G>T | CA405142895 | C19orf12 | c.292C>A (p.His98Asn) c.*206C>A (n.*206C>A) n.683C>A c.100C>A (p.His34Asn) c.325C>A (p.His109Asn) c.290+2C>A (n.290+2C>A) c.454C>A (p.His152Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.29702847C>A | CA405142901 | C19orf12 | c.291G>T (p.Arg97Ser) c.*205G>T (n.*205G>T) n.682G>T c.99G>T (p.Arg33Ser) c.324G>T (p.Arg108Ser) c.290+1G>T (n.290+1G>T) c.453G>T (p.Arg151Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.29702847C= | CA2330913572 | C19orf12 | c.291G= (p.Arg97=) c.*205G= (n.*205G=) n.682G= c.99G= (p.Arg33=) c.324G= (p.Arg108=) c.290+1G= (n.290+1G=) c.453G= (p.Arg151=) | |
| 19 | g.29702847C>G | CA405142903 | C19orf12 | c.291G>C (p.Arg97Ser) c.*205G>C (n.*205G>C) n.682G>C c.99G>C (p.Arg33Ser) c.324G>C (p.Arg108Ser) c.290+1G>C (n.290+1G>C) c.453G>C (p.Arg151Ser) | |
| 19 | g.29702847C>T | CA405142904 | C19orf12 | c.291G>A (p.Arg97=) c.*205G>A (n.*205G>A) n.682G>A c.99G>A (p.Arg33=) c.324G>A (p.Arg108=) c.290+1G>A (n.290+1G>A) c.453G>A (p.Arg151=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.29702848C>A | CA405142907 | C19orf12 | c.290G>T (p.Arg97Met) c.*204G>T (n.*204G>T) n.681G>T c.98G>T (p.Arg33Met) c.323G>T (p.Arg108Met) c.452G>T (p.Arg151Met) | |
| 19 | g.29702848C= | CA2330913573 | C19orf12 | c.290G= (p.Arg97=) c.*204G= (n.*204G=) n.681G= c.98G= (p.Arg33=) c.323G= (p.Arg108=) c.452G= (p.Arg151=) | |
| 19 | g.29702848C>G | CA405142908 | C19orf12 | c.290G>C (p.Arg97Thr) c.*204G>C (n.*204G>C) n.681G>C c.98G>C (p.Arg33Thr) c.323G>C (p.Arg108Thr) c.452G>C (p.Arg151Thr) |