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.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) | |
| 19 | g.29702848C>T | CA9351892 | C19orf12 | c.290G>A (p.Arg97Lys) c.*204G>A (n.*204G>A) n.681G>A c.98G>A (p.Arg33Lys) c.323G>A (p.Arg108Lys) c.452G>A (p.Arg151Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702849T>A | CA405142911 | C19orf12 | c.289A>T (p.Arg97Trp) c.*203A>T (n.*203A>T) n.680A>T c.97A>T (p.Arg33Trp) c.322A>T (p.Arg108Trp) c.451A>T (p.Arg151Trp) | |
| 19 | g.29702849T>C | CA306785304 | C19orf12 | c.289A>G (p.Arg97Gly) c.*203A>G (n.*203A>G) n.680A>G c.97A>G (p.Arg33Gly) c.322A>G (p.Arg108Gly) c.451A>G (p.Arg151Gly) | dbSNP |
| 19 | g.29702849T>G | CA506987733 | C19orf12 | c.289A>C (p.Arg97=) c.*203A>C (n.*203A>C) n.680A>C c.97A>C (p.Arg33=) c.322A>C (p.Arg108=) c.451A>C (p.Arg151=) | |
| 19 | g.29702849T= | CA2330913574 | C19orf12 | c.289A= (p.Arg97=) c.*203A= (n.*203A=) n.680A= c.97A= (p.Arg33=) c.322A= (p.Arg108=) c.451A= (p.Arg151=) | |
| 19 | g.29702850G>A | CA506987736 | C19orf12 | c.288C>T (p.Ile96=) c.*202C>T (n.*202C>T) n.679C>T c.96C>T (p.Ile32=) c.321C>T (p.Ile107=) c.450C>T (p.Ile150=) | |
| 19 | g.29702850G>C | CA405142914 | C19orf12 | c.288C>G (p.Ile96Met) c.*202C>G (n.*202C>G) n.679C>G c.96C>G (p.Ile32Met) c.321C>G (p.Ile107Met) c.450C>G (p.Ile150Met) | |
| 19 | g.29702850G>T | CA506987741 | C19orf12 | c.288C>A (p.Ile96=) c.*202C>A (n.*202C>A) n.679C>A c.96C>A (p.Ile32=) c.321C>A (p.Ile107=) c.450C>A (p.Ile150=) | |
| 19 | g.29702851A>C | CA405142915 | C19orf12 | c.287T>G (p.Ile96Ser) c.*201T>G (n.*201T>G) n.678T>G c.95T>G (p.Ile32Ser) c.320T>G (p.Ile107Ser) c.449T>G (p.Ile150Ser) | gnomAD v4 |
| 19 | g.29702851A>G | CA405142919 | C19orf12 | c.287T>C (p.Ile96Thr) c.*201T>C (n.*201T>C) n.678T>C c.95T>C (p.Ile32Thr) c.320T>C (p.Ile107Thr) c.449T>C (p.Ile150Thr) | |
| 19 | g.29702851A>T | CA405142917 | C19orf12 | c.287T>A (p.Ile96Asn) c.*201T>A (n.*201T>A) n.678T>A c.95T>A (p.Ile32Asn) c.320T>A (p.Ile107Asn) c.449T>A (p.Ile150Asn) | |
| 19 | g.29702852T>A | CA405142921 | C19orf12 | c.286A>T (p.Ile96Phe) c.*200A>T (n.*200A>T) n.677A>T c.94A>T (p.Ile32Phe) c.319A>T (p.Ile107Phe) c.448A>T (p.Ile150Phe) | gnomAD v4 |
| 19 | g.29702852T>C | CA405142923 | C19orf12 | c.286A>G (p.Ile96Val) c.*200A>G (n.*200A>G) n.677A>G c.94A>G (p.Ile32Val) c.319A>G (p.Ile107Val) c.448A>G (p.Ile150Val) | ClinVar gnomAD v4 |
| 19 | g.29702852T>G | CA405142925 | C19orf12 | c.286A>C (p.Ile96Leu) c.*200A>C (n.*200A>C) n.677A>C c.94A>C (p.Ile32Leu) c.319A>C (p.Ile107Leu) c.448A>C (p.Ile150Leu) | dbSNP |
| 19 | g.29702852T= | CA2330913575 | C19orf12 | c.286A= (p.Ile96=) c.*200A= (n.*200A=) n.677A= c.94A= (p.Ile32=) c.319A= (p.Ile107=) c.448A= (p.Ile150=) | |
| 19 | g.29702853G>A | CA506987755 | C19orf12 | c.285C>T (p.Ile95=) c.*199C>T (n.*199C>T) n.676C>T c.93C>T (p.Ile31=) c.318C>T (p.Ile106=) c.447C>T (p.Ile149=) | |
| 19 | g.29702853G>C | CA9351893 | C19orf12 | c.285C>G (p.Ile95Met) c.*199C>G (n.*199C>G) n.676C>G c.93C>G (p.Ile31Met) c.318C>G (p.Ile106Met) c.447C>G (p.Ile149Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702853G= | CA2330913576 | C19orf12 | c.285C= (p.Ile95=) c.*199C= (n.*199C=) n.676C= c.93C= (p.Ile31=) c.318C= (p.Ile106=) c.447C= (p.Ile149=) | |
| 19 | g.29702853G>T | CA506987759 | C19orf12 | c.285C>A (p.Ile95=) c.*199C>A (n.*199C>A) n.676C>A c.93C>A (p.Ile31=) c.318C>A (p.Ile106=) c.447C>A (p.Ile149=) | |
| 19 | g.29702854A>C | CA405142929 | C19orf12 | c.284T>G (p.Ile95Ser) c.*198T>G (n.*198T>G) n.675T>G c.92T>G (p.Ile31Ser) c.317T>G (p.Ile106Ser) c.446T>G (p.Ile149Ser) | |
| 19 | g.29702854A>G | CA405142931 | C19orf12 | c.284T>C (p.Ile95Thr) c.*198T>C (n.*198T>C) n.675T>C c.92T>C (p.Ile31Thr) c.317T>C (p.Ile106Thr) c.446T>C (p.Ile149Thr) | |
| 19 | g.29702854A>T | CA405142933 | C19orf12 | c.284T>A (p.Ile95Asn) c.*198T>A (n.*198T>A) n.675T>A c.92T>A (p.Ile31Asn) c.317T>A (p.Ile106Asn) c.446T>A (p.Ile149Asn) | |
| 19 | g.29702855T>A | CA405142936 | C19orf12 | c.283A>T (p.Ile95Phe) c.*197A>T (n.*197A>T) n.674A>T c.91A>T (p.Ile31Phe) c.316A>T (p.Ile106Phe) c.445A>T (p.Ile149Phe) | |
| 19 | g.29702855T>C | CA405142938 | C19orf12 | c.283A>G (p.Ile95Val) c.*197A>G (n.*197A>G) n.674A>G c.91A>G (p.Ile31Val) c.316A>G (p.Ile106Val) c.445A>G (p.Ile149Val) | gnomAD v4 |
| 19 | g.29702855T>G | CA405142939 | C19orf12 | c.283A>C (p.Ile95Leu) c.*197A>C (n.*197A>C) n.674A>C c.91A>C (p.Ile31Leu) c.316A>C (p.Ile106Leu) c.445A>C (p.Ile149Leu) | |
| 19 | g.29702855T= | CA2330913577 | C19orf12 | c.283A= (p.Ile95=) c.*197A= (n.*197A=) n.674A= c.91A= (p.Ile31=) c.316A= (p.Ile106=) c.445A= (p.Ile149=) | |
| 19 | g.29702856G>A | CA506987770 | C19orf12 | c.282C>T (p.Ala94=) c.*196C>T (n.*196C>T) n.673C>T c.90C>T (p.Ala30=) c.315C>T (p.Ala105=) c.444C>T (p.Ala148=) | gnomAD v4 COSMIC COSMIC |
| 19 | g.29702856G>C | CA506987773 | C19orf12 | c.282C>G (p.Ala94=) c.*196C>G (n.*196C>G) n.673C>G c.90C>G (p.Ala30=) c.315C>G (p.Ala105=) c.444C>G (p.Ala148=) | |
| 19 | g.29702856G>T | CA506987776 | C19orf12 | c.282C>A (p.Ala94=) c.*196C>A (n.*196C>A) n.673C>A c.90C>A (p.Ala30=) c.315C>A (p.Ala105=) c.444C>A (p.Ala148=) | |
| 19 | g.29702857dup | CA658658799 | C19orf12 | c.282dup (p.Ile95HisfsTer?) c.*196dup (n.*196dup) n.673dup c.90dup (p.Ile31HisfsTer?) c.315dup (p.Ile106HisfsTer?) c.282dup (p.Ile95HisfsTer30) c.444dup (p.Ile149HisfsTer?) | ClinVar dbSNP |
| 19 | g.29702857G>A | CA306785310 | C19orf12 | c.281C>T (p.Ala94Val) c.*195C>T (n.*195C>T) n.672C>T c.89C>T (p.Ala30Val) c.314C>T (p.Ala105Val) c.443C>T (p.Ala148Val) | dbSNP COSMIC COSMIC |
| 19 | g.29702857G>C | CA405142949 | C19orf12 | c.281C>G (p.Ala94Gly) c.*195C>G (n.*195C>G) n.672C>G c.89C>G (p.Ala30Gly) c.314C>G (p.Ala105Gly) c.443C>G (p.Ala148Gly) | |
| 19 | g.29702857G= | CA2330913578 | C19orf12 | c.281C= (p.Ala94=) c.*195C= (n.*195C=) n.672C= c.89C= (p.Ala30=) c.314C= (p.Ala105=) c.443C= (p.Ala148=) | |
| 19 | g.29702857G>T | CA405142951 | C19orf12 | c.281C>A (p.Ala94Asp) c.*195C>A (n.*195C>A) n.672C>A c.89C>A (p.Ala30Asp) c.314C>A (p.Ala105Asp) c.443C>A (p.Ala148Asp) | |
| 19 | g.29702858C>A | CA405142958 | C19orf12 | c.280G>T (p.Ala94Ser) c.*194G>T (n.*194G>T) n.671G>T c.88G>T (p.Ala30Ser) c.313G>T (p.Ala105Ser) c.442G>T (p.Ala148Ser) | |
| 19 | g.29702858C>G | CA405142954 | C19orf12 | c.280G>C (p.Ala94Pro) c.*194G>C (n.*194G>C) n.671G>C c.88G>C (p.Ala30Pro) c.313G>C (p.Ala105Pro) c.442G>C (p.Ala148Pro) | |
| 19 | g.29702858C>T | CA405142956 | C19orf12 | c.280G>A (p.Ala94Thr) c.*194G>A (n.*194G>A) n.671G>A c.88G>A (p.Ala30Thr) c.313G>A (p.Ala105Thr) c.442G>A (p.Ala148Thr) | |
| 19 | g.29702859del | CA2573156223 | C19orf12 | c.279del (p.Ala94ProfsTer14) c.*193del (n.*193del) n.670del c.87del (p.Ala30ProfsTer14) c.312del (p.Ala105ProfsTer14) c.279del (p.Ala94ProfsTer?) c.279del (p.Ala94ProfsTer28) c.441del (p.Ala148ProfsTer14) | ClinVar dbSNP |
| 19 | g.29702859T>A | CA506987788 | C19orf12 | c.279A>T (p.Ala93=) c.*193A>T (n.*193A>T) n.670A>T c.87A>T (p.Ala29=) c.312A>T (p.Ala104=) c.441A>T (p.Ala147=) | |
| 19 | g.29702859T>C | CA506987790 | C19orf12 | c.279A>G (p.Ala93=) c.*193A>G (n.*193A>G) n.670A>G c.87A>G (p.Ala29=) c.312A>G (p.Ala104=) c.441A>G (p.Ala147=) | gnomAD v4 |
| 19 | g.29702859T>G | CA506987792 | C19orf12 | c.279A>C (p.Ala93=) c.*193A>C (n.*193A>C) n.670A>C c.87A>C (p.Ala29=) c.312A>C (p.Ala104=) c.441A>C (p.Ala147=) | gnomAD v4 |
| 19 | g.29702860G>A | CA405142960 | C19orf12 | c.278C>T (p.Ala93Val) c.*192C>T (n.*192C>T) n.669C>T c.86C>T (p.Ala29Val) c.311C>T (p.Ala104Val) c.440C>T (p.Ala147Val) | |
| 19 | g.29702860G>C | CA405142962 | C19orf12 | c.278C>G (p.Ala93Gly) c.*192C>G (n.*192C>G) n.669C>G c.86C>G (p.Ala29Gly) c.311C>G (p.Ala104Gly) c.440C>G (p.Ala147Gly) | |
| 19 | g.29702860G>T | CA405142963 | C19orf12 | c.278C>A (p.Ala93Glu) c.*192C>A (n.*192C>A) n.669C>A c.86C>A (p.Ala29Glu) c.311C>A (p.Ala104Glu) c.440C>A (p.Ala147Glu) | |
| 19 | g.29702861C>A | CA405142967 | C19orf12 | c.277G>T (p.Ala93Ser) c.*191G>T (n.*191G>T) n.668G>T c.85G>T (p.Ala29Ser) c.310G>T (p.Ala104Ser) c.439G>T (p.Ala147Ser) | ClinVar |
| 19 | g.29702861C= | CA2330913579 | C19orf12 | c.277G= (p.Ala93=) c.*191G= (n.*191G=) n.668G= c.85G= (p.Ala29=) c.310G= (p.Ala104=) c.439G= (p.Ala147=) | |
| 19 | g.29702861C>G | CA405142972 | C19orf12 | c.277G>C (p.Ala93Pro) c.*191G>C (n.*191G>C) n.668G>C c.85G>C (p.Ala29Pro) c.310G>C (p.Ala104Pro) c.439G>C (p.Ala147Pro) | |
| 19 | g.29702861C>T | CA306785312 | C19orf12 | c.277G>A (p.Ala93Thr) c.*191G>A (n.*191G>A) n.668G>A c.85G>A (p.Ala29Thr) c.310G>A (p.Ala104Thr) c.439G>A (p.Ala147Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702862G>A | CA9351894 | C19orf12 | c.276C>T (p.Ala92=) c.*190C>T (n.*190C>T) n.667C>T c.84C>T (p.Ala28=) c.309C>T (p.Ala103=) c.438C>T (p.Ala146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702862G>C | CA506987816 | C19orf12 | c.276C>G (p.Ala92=) c.*190C>G (n.*190C>G) n.667C>G c.84C>G (p.Ala28=) c.309C>G (p.Ala103=) c.438C>G (p.Ala146=) | |
| 19 | g.29702862G= | CA2330913580 | C19orf12 | c.276C= (p.Ala92=) c.*190C= (n.*190C=) n.667C= c.84C= (p.Ala28=) c.309C= (p.Ala103=) c.438C= (p.Ala146=) | |
| 19 | g.29702862G>T | CA9351895 | C19orf12 | c.276C>A (p.Ala92=) c.*190C>A (n.*190C>A) n.667C>A c.84C>A (p.Ala28=) c.309C>A (p.Ala103=) c.438C>A (p.Ala146=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702863G>A | CA405142979 | C19orf12 | c.275C>T (p.Ala92Val) c.*189C>T (n.*189C>T) n.666C>T c.83C>T (p.Ala28Val) c.308C>T (p.Ala103Val) c.437C>T (p.Ala146Val) | |
| 19 | g.29702863G>C | CA405142981 | C19orf12 | c.275C>G (p.Ala92Gly) c.*189C>G (n.*189C>G) n.666C>G c.83C>G (p.Ala28Gly) c.308C>G (p.Ala103Gly) c.437C>G (p.Ala146Gly) | |
| 19 | g.29702863G>T | CA405142983 | C19orf12 | c.275C>A (p.Ala92Asp) c.*189C>A (n.*189C>A) n.666C>A c.83C>A (p.Ala28Asp) c.308C>A (p.Ala103Asp) c.437C>A (p.Ala146Asp) | |
| 19 | g.29702864C>A | CA405142992 | C19orf12 | c.274G>T (p.Ala92Ser) c.*188G>T (n.*188G>T) n.665G>T c.82G>T (p.Ala28Ser) c.307G>T (p.Ala103Ser) c.436G>T (p.Ala146Ser) | |
| 19 | g.29702864C>G | CA405142987 | C19orf12 | c.274G>C (p.Ala92Pro) c.*188G>C (n.*188G>C) n.665G>C c.82G>C (p.Ala28Pro) c.307G>C (p.Ala103Pro) c.436G>C (p.Ala146Pro) | |
| 19 | g.29702864C>T | CA405142990 | C19orf12 | c.274G>A (p.Ala92Thr) c.*188G>A (n.*188G>A) n.665G>A c.82G>A (p.Ala28Thr) c.307G>A (p.Ala103Thr) c.436G>A (p.Ala146Thr) | |
| 19 | g.29702865T>A | CA405142994 | C19orf12 | c.273A>T (p.Glu91Asp) c.*187A>T (n.*187A>T) n.664A>T c.81A>T (p.Glu27Asp) c.306A>T (p.Glu102Asp) c.435A>T (p.Glu145Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.29702865T>C | CA506987830 | C19orf12 | c.273A>G (p.Glu91=) c.*187A>G (n.*187A>G) n.664A>G c.81A>G (p.Glu27=) c.306A>G (p.Glu102=) c.435A>G (p.Glu145=) | |
| 19 | g.29702865T>G | CA405142996 | C19orf12 | c.273A>C (p.Glu91Asp) c.*187A>C (n.*187A>C) n.664A>C c.81A>C (p.Glu27Asp) c.306A>C (p.Glu102Asp) c.435A>C (p.Glu145Asp) | |
| 19 | g.29702865T= | CA2330913581 | C19orf12 | c.273A= (p.Glu91=) c.*187A= (n.*187A=) n.664A= c.81A= (p.Glu27=) c.306A= (p.Glu102=) c.435A= (p.Glu145=) | |
| 19 | g.29702866T>A | CA405142999 | C19orf12 | c.272A>T (p.Glu91Val) c.*186A>T (n.*186A>T) n.663A>T c.80A>T (p.Glu27Val) c.305A>T (p.Glu102Val) c.434A>T (p.Glu145Val) | |
| 19 | g.29702866T>C | CA306785317 | C19orf12 | c.272A>G (p.Glu91Gly) c.*186A>G (n.*186A>G) n.663A>G c.80A>G (p.Glu27Gly) c.305A>G (p.Glu102Gly) c.434A>G (p.Glu145Gly) | dbSNP |
| 19 | g.29702866T>G | CA405143000 | C19orf12 | c.272A>C (p.Glu91Ala) c.*186A>C (n.*186A>C) n.663A>C c.80A>C (p.Glu27Ala) c.305A>C (p.Glu102Ala) c.434A>C (p.Glu145Ala) | dbSNP |
| 19 | g.29702866T= | CA2330913582 | C19orf12 | c.272A= (p.Glu91=) c.*186A= (n.*186A=) n.663A= c.80A= (p.Glu27=) c.305A= (p.Glu102=) c.434A= (p.Glu145=) | |
| 19 | g.29702867C>A | CA405143004 | C19orf12 | c.271G>T (p.Glu91Ter) c.*185G>T (n.*185G>T) n.662G>T c.79G>T (p.Glu27Ter) c.304G>T (p.Glu102Ter) c.433G>T (p.Glu145Ter) | |
| 19 | g.29702867C= | CA2330913583 | C19orf12 | c.271G= (p.Glu91=) c.*185G= (n.*185G=) n.662G= c.79G= (p.Glu27=) c.304G= (p.Glu102=) c.433G= (p.Glu145=) | |
| 19 | g.29702867C>G | CA405143006 | C19orf12 | c.271G>C (p.Glu91Gln) c.*185G>C (n.*185G>C) n.662G>C c.79G>C (p.Glu27Gln) c.304G>C (p.Glu102Gln) c.433G>C (p.Glu145Gln) | |
| 19 | g.29702867C>T | CA9351896 | C19orf12 | c.271G>A (p.Glu91Lys) c.*185G>A (n.*185G>A) n.662G>A c.79G>A (p.Glu27Lys) c.304G>A (p.Glu102Lys) c.433G>A (p.Glu145Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702867_29702868delinsCG | CA2330913584 | C19orf12 | c.270_271delinsCG (p.Asn90=) c.*184_*185delinsCG (n.*184_*185delinsCG) n.661_662delinsCG c.78_79delinsCG (p.Asn26=) c.303_304delinsCG (p.Asn101=) c.432_433delinsCG (p.Asn144=) | |
| 19 | g.29702868del | CA658658800 | C19orf12 | c.270del (p.Asn90LysfsTer18) c.*184del (n.*184del) n.661del c.78del (p.Asn26LysfsTer18) c.303del (p.Asn101LysfsTer18) c.270del (p.Asn90LysfsTer?) c.432del (p.Asn144LysfsTer18) | ClinVar dbSNP |
| 19 | g.29702868G>A | CA9351898 | C19orf12 | c.270C>T (p.Asn90=) c.*184C>T (n.*184C>T) n.661C>T c.78C>T (p.Asn26=) c.303C>T (p.Asn101=) c.432C>T (p.Asn144=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702868G>C | CA9351897 | C19orf12 | c.270C>G (p.Asn90Lys) c.*184C>G (n.*184C>G) n.661C>G c.78C>G (p.Asn26Lys) c.303C>G (p.Asn101Lys) c.432C>G (p.Asn144Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.29702868G= | CA2330913585 | C19orf12 | c.270C= (p.Asn90=) c.*184C= (n.*184C=) n.661C= c.78C= (p.Asn26=) c.303C= (p.Asn101=) c.432C= (p.Asn144=) | |
| 19 | g.29702868G>T | CA405143008 | C19orf12 | c.270C>A (p.Asn90Lys) c.*184C>A (n.*184C>A) n.661C>A c.78C>A (p.Asn26Lys) c.303C>A (p.Asn101Lys) c.432C>A (p.Asn144Lys) | |
| 19 | g.29702869T>A | CA405143009 | C19orf12 | c.269A>T (p.Asn90Ile) c.*183A>T (n.*183A>T) n.660A>T c.77A>T (p.Asn26Ile) c.302A>T (p.Asn101Ile) c.431A>T (p.Asn144Ile) | |
| 19 | g.29702869T>C | CA405143011 | C19orf12 | c.269A>G (p.Asn90Ser) c.*183A>G (n.*183A>G) n.660A>G c.77A>G (p.Asn26Ser) c.302A>G (p.Asn101Ser) c.431A>G (p.Asn144Ser) | |
| 19 | g.29702869T>G | CA405143014 | C19orf12 | c.269A>C (p.Asn90Thr) c.*183A>C (n.*183A>C) n.660A>C c.77A>C (p.Asn26Thr) c.302A>C (p.Asn101Thr) c.431A>C (p.Asn144Thr) | |
| 19 | g.29702870T>A | CA405143015 | C19orf12 | c.268A>T (p.Asn90Tyr) c.*182A>T (n.*182A>T) n.659A>T c.76A>T (p.Asn26Tyr) c.301A>T (p.Asn101Tyr) c.430A>T (p.Asn144Tyr) | |
| 19 | g.29702870T>C | CA405143017 | C19orf12 | c.268A>G (p.Asn90Asp) c.*182A>G (n.*182A>G) n.659A>G c.76A>G (p.Asn26Asp) c.301A>G (p.Asn101Asp) c.430A>G (p.Asn144Asp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 19 | g.29702870T>G | CA405143018 | C19orf12 | c.268A>C (p.Asn90His) c.*182A>C (n.*182A>C) n.659A>C c.76A>C (p.Asn26His) c.301A>C (p.Asn101His) c.430A>C (p.Asn144His) | |
| 19 | g.29702870T= | CA2330913586 | C19orf12 | c.268A= (p.Asn90=) c.*182A= (n.*182A=) n.659A= c.76A= (p.Asn26=) c.301A= (p.Asn101=) c.430A= (p.Asn144=) | |
| 19 | g.29702871A= | CA2330913587 | C19orf12 | c.267T= (p.Phe89=) c.*181T= (n.*181T=) n.658T= c.75T= (p.Phe25=) c.300T= (p.Phe100=) c.429T= (p.Phe143=) | |
| 19 | g.29702871A>C | CA405143021 | C19orf12 | c.267T>G (p.Phe89Leu) c.*181T>G (n.*181T>G) n.658T>G c.75T>G (p.Phe25Leu) c.300T>G (p.Phe100Leu) c.429T>G (p.Phe143Leu) | |
| 19 | g.29702871A>G | CA506987866 | C19orf12 | c.267T>C (p.Phe89=) c.*181T>C (n.*181T>C) n.658T>C c.75T>C (p.Phe25=) c.300T>C (p.Phe100=) c.429T>C (p.Phe143=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.29702871A>T | CA405143019 | C19orf12 | c.267T>A (p.Phe89Leu) c.*181T>A (n.*181T>A) n.658T>A c.75T>A (p.Phe25Leu) c.300T>A (p.Phe100Leu) c.429T>A (p.Phe143Leu) | |
| 19 | g.29702873del | CA2580060373 | C19orf12 | c.267del (p.Phe89LeufsTer19) c.*181del (n.*181del) n.658del c.75del (p.Phe25LeufsTer19) c.300del (p.Phe100LeufsTer19) c.267del (p.Phe89LeufsTer?) c.429del (p.Phe143LeufsTer19) | ClinVar |
| 19 | g.29702872A>C | CA405143022 | C19orf12 | c.266T>G (p.Phe89Cys) c.*180T>G (n.*180T>G) n.657T>G c.74T>G (p.Phe25Cys) c.299T>G (p.Phe100Cys) c.428T>G (p.Phe143Cys) | |
| 19 | g.29702872A>G | CA405143025 | C19orf12 | c.266T>C (p.Phe89Ser) c.*180T>C (n.*180T>C) n.657T>C c.74T>C (p.Phe25Ser) c.299T>C (p.Phe100Ser) c.428T>C (p.Phe143Ser) | |
| 19 | g.29702872A>T | CA405143028 | C19orf12 | c.266T>A (p.Phe89Tyr) c.*180T>A (n.*180T>A) n.657T>A c.74T>A (p.Phe25Tyr) c.299T>A (p.Phe100Tyr) c.428T>A (p.Phe143Tyr) | |
| 19 | g.29702873A>C | CA405143030 | C19orf12 | c.265T>G (p.Phe89Val) c.*179T>G (n.*179T>G) n.656T>G c.73T>G (p.Phe25Val) c.298T>G (p.Phe100Val) c.427T>G (p.Phe143Val) | |
| 19 | g.29702873A>G | CA405143032 | C19orf12 | c.265T>C (p.Phe89Leu) c.*179T>C (n.*179T>C) n.656T>C c.73T>C (p.Phe25Leu) c.298T>C (p.Phe100Leu) c.427T>C (p.Phe143Leu) | gnomAD v4 |
| 19 | g.29702873A>T | CA405143033 | C19orf12 | c.265T>A (p.Phe89Ile) c.*179T>A (n.*179T>A) n.656T>A c.73T>A (p.Phe25Ile) c.298T>A (p.Phe100Ile) c.427T>A (p.Phe143Ile) | |
| 19 | g.29702874G>A | CA506987880 | C19orf12 | c.264C>T (p.Leu88=) c.*178C>T (n.*178C>T) n.655C>T c.72C>T (p.Leu24=) c.297C>T (p.Leu99=) c.426C>T (p.Leu142=) | gnomAD v4 |
| 19 | g.29702874G>C | CA506987882 | C19orf12 | c.264C>G (p.Leu88=) c.*178C>G (n.*178C>G) n.655C>G c.72C>G (p.Leu24=) c.297C>G (p.Leu99=) c.426C>G (p.Leu142=) | dbSNP |
| 19 | g.29702874G= | CA2330913588 | C19orf12 | c.264C= (p.Leu88=) c.*178C= (n.*178C=) n.655C= c.72C= (p.Leu24=) c.297C= (p.Leu99=) c.426C= (p.Leu142=) | |
| 19 | g.29702874G>T | CA506987881 | C19orf12 | c.264C>A (p.Leu88=) c.*178C>A (n.*178C>A) n.655C>A c.72C>A (p.Leu24=) c.297C>A (p.Leu99=) c.426C>A (p.Leu142=) | |
| 19 | g.29702874_29702877dup | CA2695228506 | C19orf12 | c.261_264dup (p.Phe89AlafsTer3) c.*175_*178dup (n.*175_*178dup) n.652_655dup c.69_72dup (p.Phe25AlafsTer3) c.294_297dup (p.Phe100AlafsTer3) c.423_426dup (p.Phe143AlafsTer3) | |
| 19 | g.29702875A>C | CA405143034 | C19orf12 | c.263T>G (p.Leu88Arg) c.*177T>G (n.*177T>G) n.654T>G c.71T>G (p.Leu24Arg) c.296T>G (p.Leu99Arg) c.425T>G (p.Leu142Arg) | |
| 19 | g.29702875A>G | CA405143035 | C19orf12 | c.263T>C (p.Leu88Pro) c.*177T>C (n.*177T>C) n.654T>C c.71T>C (p.Leu24Pro) c.296T>C (p.Leu99Pro) c.425T>C (p.Leu142Pro) | gnomAD v4 |
| 19 | g.29702875A>T | CA405143037 | C19orf12 | c.263T>A (p.Leu88His) c.*177T>A (n.*177T>A) n.654T>A c.71T>A (p.Leu24His) c.296T>A (p.Leu99His) c.425T>A (p.Leu142His) | |
| 19 | g.29702876G>A | CA405143039 | C19orf12 | c.262C>T (p.Leu88Phe) c.*176C>T (n.*176C>T) n.653C>T c.70C>T (p.Leu24Phe) c.295C>T (p.Leu99Phe) c.424C>T (p.Leu142Phe) | dbSNP COSMIC COSMIC |
| 19 | g.29702876G>C | CA405143041 | C19orf12 | c.262C>G (p.Leu88Val) c.*176C>G (n.*176C>G) n.653C>G c.70C>G (p.Leu24Val) c.295C>G (p.Leu99Val) c.424C>G (p.Leu142Val) | |
| 19 | g.29702876G= | CA2330913589 | C19orf12 | c.262C= (p.Leu88=) c.*176C= (n.*176C=) n.653C= c.70C= (p.Leu24=) c.295C= (p.Leu99=) c.424C= (p.Leu142=) | |
| 19 | g.29702876G>T | CA405143042 | C19orf12 | c.262C>A (p.Leu88Ile) c.*176C>A (n.*176C>A) n.653C>A c.70C>A (p.Leu24Ile) c.295C>A (p.Leu99Ile) c.424C>A (p.Leu142Ile) | |
| 19 | g.29702877C>A | CA405143049 | C19orf12 | c.261G>T (p.Arg87Ser) c.*175G>T (n.*175G>T) n.652G>T c.69G>T (p.Arg23Ser) c.294G>T (p.Arg98Ser) c.423G>T (p.Arg141Ser) | |
| 19 | g.29702877C= | CA2330913590 | C19orf12 | c.261G= (p.Arg87=) c.*175G= (n.*175G=) n.652G= c.69G= (p.Arg23=) c.294G= (p.Arg98=) c.423G= (p.Arg141=) | |
| 19 | g.29702877C>G | CA405143047 | C19orf12 | c.261G>C (p.Arg87Ser) c.*175G>C (n.*175G>C) n.652G>C c.69G>C (p.Arg23Ser) c.294G>C (p.Arg98Ser) c.423G>C (p.Arg141Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.29702877C>T | CA506987890 | C19orf12 | c.261G>A (p.Arg87=) c.*175G>A (n.*175G>A) n.652G>A c.69G>A (p.Arg23=) c.294G>A (p.Arg98=) c.423G>A (p.Arg141=) | dbSNP |
| 19 | g.29702878C>A | CA405143051 | C19orf12 | c.260G>T (p.Arg87Met) c.*174G>T (n.*174G>T) n.651G>T c.68G>T (p.Arg23Met) c.293G>T (p.Arg98Met) c.422G>T (p.Arg141Met) | |
| 19 | g.29702878C= | CA2330913591 | C19orf12 | c.260G= (p.Arg87=) c.*174G= (n.*174G=) n.651G= c.68G= (p.Arg23=) c.293G= (p.Arg98=) c.422G= (p.Arg141=) | |
| 19 | g.29702878C>G | CA405143053 | C19orf12 | c.260G>C (p.Arg87Thr) c.*174G>C (n.*174G>C) n.651G>C c.68G>C (p.Arg23Thr) c.293G>C (p.Arg98Thr) c.422G>C (p.Arg141Thr) | |
| 19 | g.29702878C>T | CA9351899 | C19orf12 | c.260G>A (p.Arg87Lys) c.*174G>A (n.*174G>A) n.651G>A c.68G>A (p.Arg23Lys) c.293G>A (p.Arg98Lys) c.422G>A (p.Arg141Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.29702879T>A | CA405143057 | C19orf12 | c.259A>T (p.Arg87Trp) c.*173A>T (n.*173A>T) n.650A>T c.67A>T (p.Arg23Trp) c.292A>T (p.Arg98Trp) c.421A>T (p.Arg141Trp) | |
| 19 | g.29702879T>C | CA9351900 | C19orf12 | c.259A>G (p.Arg87Gly) c.*173A>G (n.*173A>G) n.650A>G c.67A>G (p.Arg23Gly) c.292A>G (p.Arg98Gly) c.421A>G (p.Arg141Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702879T>G | CA506987901 | C19orf12 | c.259A>C (p.Arg87=) c.*173A>C (n.*173A>C) n.650A>C c.67A>C (p.Arg23=) c.292A>C (p.Arg98=) c.421A>C (p.Arg141=) | |
| 19 | g.29702879T= | CA2330913592 | C19orf12 | c.259A= (p.Arg87=) c.*173A= (n.*173A=) n.650A= c.67A= (p.Arg23=) c.292A= (p.Arg98=) c.421A= (p.Arg141=) | |
| 19 | g.29702880C>A | CA405143062 | C19orf12 | c.258G>T (p.Gln86His) c.*172G>T (n.*172G>T) n.649G>T c.66G>T (p.Gln22His) c.291G>T (p.Gln97His) c.420G>T (p.Gln140His) | |
| 19 | g.29702880C= | CA2330913593 | C19orf12 | c.258G= (p.Gln86=) c.*172G= (n.*172G=) n.649G= c.66G= (p.Gln22=) c.291G= (p.Gln97=) c.420G= (p.Gln140=) | |
| 19 | g.29702880C>G | CA405143064 | C19orf12 | c.258G>C (p.Gln86His) c.*172G>C (n.*172G>C) n.649G>C c.66G>C (p.Gln22His) c.291G>C (p.Gln97His) c.420G>C (p.Gln140His) | |
| 19 | g.29702880C>T | CA506987910 | C19orf12 | c.258G>A (p.Gln86=) c.*172G>A (n.*172G>A) n.649G>A c.66G>A (p.Gln22=) c.291G>A (p.Gln97=) c.420G>A (p.Gln140=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.29702881T>A | CA405143065 | C19orf12 | c.257A>T (p.Gln86Leu) c.*171A>T (n.*171A>T) n.648A>T c.65A>T (p.Gln22Leu) c.290A>T (p.Gln97Leu) c.419A>T (p.Gln140Leu) | |
| 19 | g.29702881T>C | CA405143067 | C19orf12 | c.257A>G (p.Gln86Arg) c.*171A>G (n.*171A>G) n.648A>G c.65A>G (p.Gln22Arg) c.290A>G (p.Gln97Arg) c.419A>G (p.Gln140Arg) | |
| 19 | g.29702881T>G | CA405143068 | C19orf12 | c.257A>C (p.Gln86Pro) c.*171A>C (n.*171A>C) n.648A>C c.65A>C (p.Gln22Pro) c.290A>C (p.Gln97Pro) c.419A>C (p.Gln140Pro) | |
| 19 | g.29702882G>A | CA405143069 | C19orf12 | c.256C>T (p.Gln86Ter) c.*170C>T (n.*170C>T) n.647C>T c.64C>T (p.Gln22Ter) c.289C>T (p.Gln97Ter) c.418C>T (p.Gln140Ter) | |
| 19 | g.29702882G>C | CA405143070 | C19orf12 | c.256C>G (p.Gln86Glu) c.*170C>G (n.*170C>G) n.647C>G c.64C>G (p.Gln22Glu) c.289C>G (p.Gln97Glu) c.418C>G (p.Gln140Glu) | gnomAD v4 |
| 19 | g.29702882G>T | CA405143072 | C19orf12 | c.256C>A (p.Gln86Lys) c.*170C>A (n.*170C>A) n.647C>A c.64C>A (p.Gln22Lys) c.289C>A (p.Gln97Lys) c.418C>A (p.Gln140Lys) | |
| 19 | g.29702883T>A | CA405143078 | C19orf12 | c.255A>T (p.Gln85His) c.*169A>T (n.*169A>T) n.646A>T c.63A>T (p.Gln21His) c.288A>T (p.Gln96His) c.417A>T (p.Gln139His) | |
| 19 | g.29702883T>C | CA506987926 | C19orf12 | c.255A>G (p.Gln85=) c.*169A>G (n.*169A>G) n.646A>G c.63A>G (p.Gln21=) c.288A>G (p.Gln96=) c.417A>G (p.Gln139=) | gnomAD v4 |
| 19 | g.29702883T>G | CA405143076 | C19orf12 | c.255A>C (p.Gln85His) c.*169A>C (n.*169A>C) n.646A>C c.63A>C (p.Gln21His) c.288A>C (p.Gln96His) c.417A>C (p.Gln139His) | |
| 19 | g.29702884T>A | CA405143080 | C19orf12 | c.254A>T (p.Gln85Leu) c.*168A>T (n.*168A>T) n.645A>T c.62A>T (p.Gln21Leu) c.287A>T (p.Gln96Leu) c.416A>T (p.Gln139Leu) | |
| 19 | g.29702884T>C | CA405143082 | C19orf12 | c.254A>G (p.Gln85Arg) c.*168A>G (n.*168A>G) n.645A>G c.62A>G (p.Gln21Arg) c.287A>G (p.Gln96Arg) c.416A>G (p.Gln139Arg) | |
| 19 | g.29702884T>G | CA405143086 | C19orf12 | c.254A>C (p.Gln85Pro) c.*168A>C (n.*168A>C) n.645A>C c.62A>C (p.Gln21Pro) c.287A>C (p.Gln96Pro) c.416A>C (p.Gln139Pro) | |
| 19 | g.29702885G>A | CA405143088 | C19orf12 | c.253C>T (p.Gln85Ter) c.*167C>T (n.*167C>T) n.644C>T c.61C>T (p.Gln21Ter) c.286C>T (p.Gln96Ter) c.415C>T (p.Gln139Ter) | |
| 19 | g.29702885G>C | CA405143091 | C19orf12 | c.253C>G (p.Gln85Glu) c.*167C>G (n.*167C>G) n.644C>G c.61C>G (p.Gln21Glu) c.286C>G (p.Gln96Glu) c.415C>G (p.Gln139Glu) | |
| 19 | g.29702885G= | CA2330913594 | C19orf12 | c.253C= (p.Gln85=) c.*167C= (n.*167C=) n.644C= c.61C= (p.Gln21=) c.286C= (p.Gln96=) c.415C= (p.Gln139=) | |
| 19 | g.29702885G>T | CA405143092 | C19orf12 | c.253C>A (p.Gln85Lys) c.*167C>A (n.*167C>A) n.644C>A c.61C>A (p.Gln21Lys) c.286C>A (p.Gln96Lys) c.415C>A (p.Gln139Lys) | dbSNP gnomAD v4 |
| 19 | g.29702886C>A | CA405143095 | C19orf12 | c.252G>T (p.Glu84Asp) c.*166G>T (n.*166G>T) n.643G>T c.60G>T (p.Glu20Asp) c.285G>T (p.Glu95Asp) c.414G>T (p.Glu138Asp) | |
| 19 | g.29702886C>G | CA405143097 | C19orf12 | c.252G>C (p.Glu84Asp) c.*166G>C (n.*166G>C) n.643G>C c.60G>C (p.Glu20Asp) c.285G>C (p.Glu95Asp) c.414G>C (p.Glu138Asp) | |
| 19 | g.29702886C>T | CA506987944 | C19orf12 | c.252G>A (p.Glu84=) c.*166G>A (n.*166G>A) n.643G>A c.60G>A (p.Glu20=) c.285G>A (p.Glu95=) c.414G>A (p.Glu138=) | |
| 19 | g.29702887T>A | CA405143099 | C19orf12 | c.251A>T (p.Glu84Val) c.*165A>T (n.*165A>T) n.642A>T c.59A>T (p.Glu20Val) c.284A>T (p.Glu95Val) c.413A>T (p.Glu138Val) | |
| 19 | g.29702887T>C | CA405143101 | C19orf12 | c.251A>G (p.Glu84Gly) c.*165A>G (n.*165A>G) n.642A>G c.59A>G (p.Glu20Gly) c.284A>G (p.Glu95Gly) c.413A>G (p.Glu138Gly) | gnomAD v4 |
| 19 | g.29702887T>G | CA405143103 | C19orf12 | c.251A>C (p.Glu84Ala) c.*165A>C (n.*165A>C) n.642A>C c.59A>C (p.Glu20Ala) c.284A>C (p.Glu95Ala) c.413A>C (p.Glu138Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.29702887T= | CA2330913595 | C19orf12 | c.251A= (p.Glu84=) c.*165A= (n.*165A=) n.642A= c.59A= (p.Glu20=) c.284A= (p.Glu95=) c.413A= (p.Glu138=) | |
| 19 | g.29702888C>A | CA405143105 | C19orf12 | c.250G>T (p.Glu84Ter) c.*164G>T (n.*164G>T) n.641G>T c.58G>T (p.Glu20Ter) c.283G>T (p.Glu95Ter) c.412G>T (p.Glu138Ter) | |
| 19 | g.29702888C= | CA2330913596 | C19orf12 | c.250G= (p.Glu84=) c.*164G= (n.*164G=) n.641G= c.58G= (p.Glu20=) c.283G= (p.Glu95=) c.412G= (p.Glu138=) | |
| 19 | g.29702888C>G | CA405143108 | C19orf12 | c.250G>C (p.Glu84Gln) c.*164G>C (n.*164G>C) n.641G>C c.58G>C (p.Glu20Gln) c.283G>C (p.Glu95Gln) c.412G>C (p.Glu138Gln) | |
| 19 | g.29702888C>T | CA9351901 | C19orf12 | c.250G>A (p.Glu84Lys) c.*164G>A (n.*164G>A) n.641G>A c.58G>A (p.Glu20Lys) c.283G>A (p.Glu95Lys) c.412G>A (p.Glu138Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.29702889G>A | CA9351902 | C19orf12 | c.249C>T (p.Ala83=) c.*163C>T (n.*163C>T) n.640C>T c.57C>T (p.Ala19=) c.282C>T (p.Ala94=) c.411C>T (p.Ala137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702889G>C | CA506987961 | C19orf12 | c.249C>G (p.Ala83=) c.*163C>G (n.*163C>G) n.640C>G c.57C>G (p.Ala19=) c.282C>G (p.Ala94=) c.411C>G (p.Ala137=) | gnomAD v4 |
| 19 | g.29702889G= | CA2330913597 | C19orf12 | c.249C= (p.Ala83=) c.*163C= (n.*163C=) n.640C= c.57C= (p.Ala19=) c.282C= (p.Ala94=) c.411C= (p.Ala137=) | |
| 19 | g.29702889G>T | CA506987963 | C19orf12 | c.249C>A (p.Ala83=) c.*163C>A (n.*163C>A) n.640C>A c.57C>A (p.Ala19=) c.282C>A (p.Ala94=) c.411C>A (p.Ala137=) | |
| 19 | g.29702891_29702894del | CA2580060374 | C19orf12 | c.246_249del (p.Ala83SerfsTer24) c.*160_*163del (n.*160_*163del) n.637_640del c.54_57del (p.Ala19SerfsTer24) c.279_282del (p.Ala94SerfsTer24) c.246_249del (p.Ala83SerfsTer?) c.408_411del (p.Ala137SerfsTer24) | |
| 19 | g.29702890G>A | CA405143116 | C19orf12 | c.248C>T (p.Ala83Val) c.*162C>T (n.*162C>T) n.639C>T c.56C>T (p.Ala19Val) c.281C>T (p.Ala94Val) c.410C>T (p.Ala137Val) | dbSNP gnomAD v4 |
| 19 | g.29702890G>C | CA405143112 | C19orf12 | c.248C>G (p.Ala83Gly) c.*162C>G (n.*162C>G) n.639C>G c.56C>G (p.Ala19Gly) c.281C>G (p.Ala94Gly) c.410C>G (p.Ala137Gly) | |
| 19 | g.29702890G= | CA2330913598 | C19orf12 | c.248C= (p.Ala83=) c.*162C= (n.*162C=) n.639C= c.56C= (p.Ala19=) c.281C= (p.Ala94=) c.410C= (p.Ala137=) | |
| 19 | g.29702890G>T | CA405143114 | C19orf12 | c.248C>A (p.Ala83Asp) c.*162C>A (n.*162C>A) n.639C>A c.56C>A (p.Ala19Asp) c.281C>A (p.Ala94Asp) c.410C>A (p.Ala137Asp) | |
| 19 | g.29702891C>A | CA405143117 | C19orf12 | c.247G>T (p.Ala83Ser) c.*161G>T (n.*161G>T) n.638G>T c.55G>T (p.Ala19Ser) c.280G>T (p.Ala94Ser) c.409G>T (p.Ala137Ser) | gnomAD v4 |
| 19 | g.29702891C>G | CA405143119 | C19orf12 | c.247G>C (p.Ala83Pro) c.*161G>C (n.*161G>C) n.638G>C c.55G>C (p.Ala19Pro) c.280G>C (p.Ala94Pro) c.409G>C (p.Ala137Pro) | |
| 19 | g.29702891C>T | CA405143121 | C19orf12 | c.247G>A (p.Ala83Thr) c.*161G>A (n.*161G>A) n.638G>A c.55G>A (p.Ala19Thr) c.280G>A (p.Ala94Thr) c.409G>A (p.Ala137Thr) | |
| 19 | g.29702892del | CA2695228507 | C19orf12 | c.246del (p.Ala83ProfsTer25) c.*160del (n.*160del) n.637del c.54del (p.Ala19ProfsTer25) c.279del (p.Ala94ProfsTer25) c.246del (p.Ala83ProfsTer?) c.408del (p.Ala137ProfsTer25) | |
| 19 | g.29702892A= | CA2330913599 | C19orf12 | c.246T= (p.Pro82=) c.*160T= (n.*160T=) n.637T= c.54T= (p.Pro18=) c.279T= (p.Pro93=) c.408T= (p.Pro136=) | |
| 19 | g.29702892A>C | CA506987983 | C19orf12 | c.246T>G (p.Pro82=) c.*160T>G (n.*160T>G) n.637T>G c.54T>G (p.Pro18=) c.279T>G (p.Pro93=) c.408T>G (p.Pro136=) | |
| 19 | g.29702892A>G | CA506987984 | C19orf12 | c.246T>C (p.Pro82=) c.*160T>C (n.*160T>C) n.637T>C c.54T>C (p.Pro18=) c.279T>C (p.Pro93=) c.408T>C (p.Pro136=) | dbSNP |
| 19 | g.29702892A>T | CA506987987 | C19orf12 | c.246T>A (p.Pro82=) c.*160T>A (n.*160T>A) n.637T>A c.54T>A (p.Pro18=) c.279T>A (p.Pro93=) c.408T>A (p.Pro136=) | |
| 19 | g.29702893G>A | CA405143128 | C19orf12 | c.245C>T (p.Pro82Leu) c.*159C>T (n.*159C>T) n.636C>T c.53C>T (p.Pro18Leu) c.278C>T (p.Pro93Leu) c.407C>T (p.Pro136Leu) | gnomAD v4 |
| 19 | g.29702893G>C | CA405143127 | C19orf12 | c.245C>G (p.Pro82Arg) c.*159C>G (n.*159C>G) n.636C>G c.53C>G (p.Pro18Arg) c.278C>G (p.Pro93Arg) c.407C>G (p.Pro136Arg) | |
| 19 | g.29702893G>T | CA405143125 | C19orf12 | c.245C>A (p.Pro82His) c.*159C>A (n.*159C>A) n.636C>A c.53C>A (p.Pro18His) c.278C>A (p.Pro93His) c.407C>A (p.Pro136His) | |
| 19 | g.29702897dup | CA2580060371 | C19orf12 | c.245dup (p.Ala83CysfsTer8) c.*159dup (n.*159dup) n.636dup c.53dup (p.Ala19CysfsTer8) c.278dup (p.Ala94CysfsTer8) c.407dup (p.Ala137CysfsTer8) | |
| 19 | g.29702897del | CA645611976 | C19orf12 | c.245del (p.Pro82LeufsTer26) c.*159del (n.*159del) n.636del c.53del (p.Pro18LeufsTer26) c.278del (p.Pro93LeufsTer26) c.245del (p.Pro82LeufsTer?) c.407del (p.Pro136LeufsTer26) | COSMIC COSMIC |
| 19 | g.29702894G>A | CA405143130 | C19orf12 | c.244C>T (p.Pro82Ser) c.*158C>T (n.*158C>T) n.635C>T c.52C>T (p.Pro18Ser) c.277C>T (p.Pro93Ser) c.406C>T (p.Pro136Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.29702894G>C | CA405143132 | C19orf12 | c.244C>G (p.Pro82Ala) c.*158C>G (n.*158C>G) n.635C>G c.52C>G (p.Pro18Ala) c.277C>G (p.Pro93Ala) c.406C>G (p.Pro136Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.29702894G= | CA2330913600 | C19orf12 | c.244C= (p.Pro82=) c.*158C= (n.*158C=) n.635C= c.52C= (p.Pro18=) c.277C= (p.Pro93=) c.406C= (p.Pro136=) | |
| 19 | g.29702894G>T | CA9351903 | C19orf12 | c.244C>A (p.Pro82Thr) c.*158C>A (n.*158C>A) n.635C>A c.52C>A (p.Pro18Thr) c.277C>A (p.Pro93Thr) c.406C>A (p.Pro136Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702895G>A | CA506988000 | C19orf12 | c.243C>T (p.Pro81=) c.*157C>T (n.*157C>T) n.634C>T c.51C>T (p.Pro17=) c.276C>T (p.Pro92=) c.405C>T (p.Pro135=) | dbSNP COSMIC COSMIC |
| 19 | g.29702895G>C | CA506988002 | C19orf12 | c.243C>G (p.Pro81=) c.*157C>G (n.*157C>G) n.634C>G c.51C>G (p.Pro17=) c.276C>G (p.Pro92=) c.405C>G (p.Pro135=) | |
| 19 | g.29702895G= | CA2330913601 | C19orf12 | c.243C= (p.Pro81=) c.*157C= (n.*157C=) n.634C= c.51C= (p.Pro17=) c.276C= (p.Pro92=) c.405C= (p.Pro135=) | |
| 19 | g.29702895G>T | CA506988004 | C19orf12 | c.243C>A (p.Pro81=) c.*157C>A (n.*157C>A) n.634C>A c.51C>A (p.Pro17=) c.276C>A (p.Pro92=) c.405C>A (p.Pro135=) | |
| 19 | g.29702896G>A | CA9351904 | C19orf12 | c.242C>T (p.Pro81Leu) c.*156C>T (n.*156C>T) n.633C>T c.50C>T (p.Pro17Leu) c.275C>T (p.Pro92Leu) c.404C>T (p.Pro135Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.29702896G>C | CA405143133 | C19orf12 | c.242C>G (p.Pro81Arg) c.*156C>G (n.*156C>G) n.633C>G c.50C>G (p.Pro17Arg) c.275C>G (p.Pro92Arg) c.404C>G (p.Pro135Arg) | |
| 19 | g.29702896G= | CA2330913602 | C19orf12 | c.242C= (p.Pro81=) c.*156C= (n.*156C=) n.633C= c.50C= (p.Pro17=) c.275C= (p.Pro92=) c.404C= (p.Pro135=) | |
| 19 | g.29702896G>T | CA405143134 | C19orf12 | c.242C>A (p.Pro81His) c.*156C>A (n.*156C>A) n.633C>A c.50C>A (p.Pro17His) c.275C>A (p.Pro92His) c.404C>A (p.Pro135His) | |
| 19 | g.29702897G>A | CA9351905 | C19orf12 | c.241C>T (p.Pro81Ser) c.*155C>T (n.*155C>T) n.632C>T c.49C>T (p.Pro17Ser) c.274C>T (p.Pro92Ser) c.403C>T (p.Pro135Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.29702897G>C | CA405143135 | C19orf12 | c.241C>G (p.Pro81Ala) c.*155C>G (n.*155C>G) n.632C>G c.49C>G (p.Pro17Ala) c.274C>G (p.Pro92Ala) c.403C>G (p.Pro135Ala) | |
| 19 | g.29702897G= | CA2330913603 | C19orf12 | c.241C= (p.Pro81=) c.*155C= (n.*155C=) n.632C= c.49C= (p.Pro17=) c.274C= (p.Pro92=) c.403C= (p.Pro135=) | |
| 19 | g.29702897G>T | CA405143137 | C19orf12 | c.241C>A (p.Pro81Thr) c.*155C>A (n.*155C>A) n.632C>A c.49C>A (p.Pro17Thr) c.274C>A (p.Pro92Thr) c.403C>A (p.Pro135Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.29702897_29702898dup | CA1139666388 | C19orf12 | c.240_241dup (p.Pro81ArgfsTer28) c.*154_*155dup (n.*154_*155dup) n.631_632dup c.48_49dup (p.Pro17ArgfsTer28) c.273_274dup (p.Pro92ArgfsTer28) c.240_241dup (p.Pro81ArgfsTer?) c.402_403dup (p.Pro135ArgfsTer28) | ClinVar dbSNP |
| 19 | g.29702897_29702898insT | CA2695228508 | C19orf12 | c.240_241insA (p.Pro81ThrfsTer10) c.*154_*155insA (n.*154_*155insA) n.631_632insA c.48_49insA (p.Pro17ThrfsTer10) c.273_274insA (p.Pro92ThrfsTer10) c.402_403insA (p.Pro135ThrfsTer10) | |
| 19 | g.29702898C>A | CA506988024 | C19orf12 | c.240G>T (p.Leu80=) c.*154G>T (n.*154G>T) n.631G>T c.48G>T (p.Leu16=) c.273G>T (p.Leu91=) c.402G>T (p.Leu134=) | ClinVar dbSNP |
| 19 | g.29702898C= | CA2330913604 | C19orf12 | c.240G= (p.Leu80=) c.*154G= (n.*154G=) n.631G= c.48G= (p.Leu16=) c.273G= (p.Leu91=) c.402G= (p.Leu134=) | |
| 19 | g.29702898C>G | CA506988022 | C19orf12 | c.240G>C (p.Leu80=) c.*154G>C (n.*154G>C) n.631G>C c.48G>C (p.Leu16=) c.273G>C (p.Leu91=) c.402G>C (p.Leu134=) | |
| 19 | g.29702898C>T | CA9351906 | C19orf12 | c.240G>A (p.Leu80=) c.*154G>A (n.*154G>A) n.631G>A c.48G>A (p.Leu16=) c.273G>A (p.Leu91=) c.402G>A (p.Leu134=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.29702899A>C | CA405143141 | C19orf12 | c.239T>G (p.Leu80Arg) c.*153T>G (n.*153T>G) n.630T>G c.47T>G (p.Leu16Arg) c.272T>G (p.Leu91Arg) c.401T>G (p.Leu134Arg) | |
| 19 | g.29702899A>G | CA405143142 | C19orf12 | c.239T>C (p.Leu80Pro) c.*153T>C (n.*153T>C) n.630T>C c.47T>C (p.Leu16Pro) c.272T>C (p.Leu91Pro) c.401T>C (p.Leu134Pro) | |
| 19 | g.29702899A>T | CA405143145 | C19orf12 | c.239T>A (p.Leu80Gln) c.*153T>A (n.*153T>A) n.630T>A c.47T>A (p.Leu16Gln) c.272T>A (p.Leu91Gln) c.401T>A (p.Leu134Gln) | |
| 19 | g.29702900G>A | CA9351907 | C19orf12 | c.238C>T (p.Leu80=) c.*152C>T (n.*152C>T) n.629C>T c.46C>T (p.Leu16=) c.271C>T (p.Leu91=) c.400C>T (p.Leu134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.29702900G>C | CA405143148 | C19orf12 | c.238C>G (p.Leu80Val) c.*152C>G (n.*152C>G) n.629C>G c.46C>G (p.Leu16Val) c.271C>G (p.Leu91Val) c.400C>G (p.Leu134Val) | |
| 19 | g.29702900G= | CA2330913605 | C19orf12 | c.238C= (p.Leu80=) c.*152C= (n.*152C=) n.629C= c.46C= (p.Leu16=) c.271C= (p.Leu91=) c.400C= (p.Leu134=) | |
| 19 | g.29702900G>T | CA405143150 | C19orf12 | c.238C>A (p.Leu80Met) c.*152C>A (n.*152C>A) n.629C>A c.46C>A (p.Leu16Met) c.271C>A (p.Leu91Met) c.400C>A (p.Leu134Met) | |
| 19 | g.29702901C>A | CA405143153 | C19orf12 | c.237G>T (p.Glu79Asp) c.*151G>T (n.*151G>T) n.628G>T c.45G>T (p.Glu15Asp) c.270G>T (p.Glu90Asp) c.399G>T (p.Glu133Asp) | |
| 19 | g.29702901C= | CA2330913606 | C19orf12 | c.237G= (p.Glu79=) c.*151G= (n.*151G=) n.628G= c.45G= (p.Glu15=) c.270G= (p.Glu90=) c.399G= (p.Glu133=) | |
| 19 | g.29702901C>G | CA405143155 | C19orf12 | c.237G>C (p.Glu79Asp) c.*151G>C (n.*151G>C) n.628G>C c.45G>C (p.Glu15Asp) c.270G>C (p.Glu90Asp) c.399G>C (p.Glu133Asp) | |
| 19 | g.29702901C>T | CA9351908 | C19orf12 | c.237G>A (p.Glu79=) c.*151G>A (n.*151G>A) n.628G>A c.45G>A (p.Glu15=) c.270G>A (p.Glu90=) c.399G>A (p.Glu133=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.29702902T>A | CA405143158 | C19orf12 | c.236A>T (p.Glu79Val) c.*150A>T (n.*150A>T) n.627A>T c.44A>T (p.Glu15Val) c.269A>T (p.Glu90Val) c.398A>T (p.Glu133Val) | |
| 19 | g.29702902T>C | CA405143160 | C19orf12 | c.236A>G (p.Glu79Gly) c.*150A>G (n.*150A>G) n.627A>G c.44A>G (p.Glu15Gly) c.269A>G (p.Glu90Gly) c.398A>G (p.Glu133Gly) | |
| 19 | g.29702902T>G | CA405143163 | C19orf12 | c.236A>C (p.Glu79Ala) c.*150A>C (n.*150A>C) n.627A>C c.44A>C (p.Glu15Ala) c.269A>C (p.Glu90Ala) c.398A>C (p.Glu133Ala) | |
| 19 | g.29702903C>A | CA405143166 | C19orf12 | c.235G>T (p.Glu79Ter) c.*149G>T (n.*149G>T) n.626G>T c.43G>T (p.Glu15Ter) c.268G>T (p.Glu90Ter) c.397G>T (p.Glu133Ter) | |
| 19 | g.29702903C>G | CA405143170 | C19orf12 | c.235G>C (p.Glu79Gln) c.*149G>C (n.*149G>C) n.626G>C c.43G>C (p.Glu15Gln) c.268G>C (p.Glu90Gln) c.397G>C (p.Glu133Gln) | |
| 19 | g.29702903C>T | CA405143168 | C19orf12 | c.235G>A (p.Glu79Lys) c.*149G>A (n.*149G>A) n.626G>A c.43G>A (p.Glu15Lys) c.268G>A (p.Glu90Lys) c.397G>A (p.Glu133Lys) | |
| 19 | g.29702904C>A | CA405143172 | C19orf12 | c.234G>T (p.Met78Ile) c.*148G>T (n.*148G>T) n.625G>T c.42G>T (p.Met14Ile) c.267G>T (p.Met89Ile) c.396G>T (p.Met132Ile) | |
| 19 | g.29702904C= | CA2330913607 | C19orf12 | c.234G= (p.Met78=) c.*148G= (n.*148G=) n.625G= c.42G= (p.Met14=) c.267G= (p.Met89=) c.396G= (p.Met132=) | |
| 19 | g.29702904C>G | CA405143174 | C19orf12 | c.234G>C (p.Met78Ile) c.*148G>C (n.*148G>C) n.625G>C c.42G>C (p.Met14Ile) c.267G>C (p.Met89Ile) c.396G>C (p.Met132Ile) | |
| 19 | g.29702904C>T | CA9351909 | C19orf12 | c.234G>A (p.Met78Ile) c.*148G>A (n.*148G>A) n.625G>A c.42G>A (p.Met14Ile) c.267G>A (p.Met89Ile) c.396G>A (p.Met132Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702904_29702906delinsCAT | CA2330913608 | C19orf12 | c.232_234delinsATG (p.Met78=) c.*146_*148delinsATG (n.*146_*148delinsATG) n.623_625delinsATG c.40_42delinsATG (p.Met14=) c.265_267delinsATG (p.Met89=) c.394_396delinsATG (p.Met132=) | |
| 19 | g.29702905A>C | CA405143175 | C19orf12 | c.233T>G (p.Met78Arg) c.*147T>G (n.*147T>G) n.624T>G c.41T>G (p.Met14Arg) c.266T>G (p.Met89Arg) c.395T>G (p.Met132Arg) | |
| 19 | g.29702905A>G | CA405143176 | C19orf12 | c.233T>C (p.Met78Thr) c.*147T>C (n.*147T>C) n.624T>C c.41T>C (p.Met14Thr) c.266T>C (p.Met89Thr) c.395T>C (p.Met132Thr) | |
| 19 | g.29702905A>T | CA405143178 | C19orf12 | c.233T>A (p.Met78Lys) c.*147T>A (n.*147T>A) n.624T>A c.41T>A (p.Met14Lys) c.266T>A (p.Met89Lys) c.395T>A (p.Met132Lys) | |
| 19 | g.29702905_29702906del | CA915952934 | C19orf12 | c.232_233del (p.Met78GlyfsTer12) c.*146_*147del (n.*146_*147del) n.623_624del c.40_41del (p.Met14GlyfsTer12) c.265_266del (p.Met89GlyfsTer12) c.394_395del (p.Met132GlyfsTer12) | ClinVar dbSNP |
| 19 | g.29702906T>A | CA405143180 | C19orf12 | c.232A>T (p.Met78Leu) c.*146A>T (n.*146A>T) n.623A>T c.40A>T (p.Met14Leu) c.265A>T (p.Met89Leu) c.394A>T (p.Met132Leu) | |
| 19 | g.29702906T>C | CA405143181 | C19orf12 | c.232A>G (p.Met78Val) c.*146A>G (n.*146A>G) n.623A>G c.40A>G (p.Met14Val) c.265A>G (p.Met89Val) c.394A>G (p.Met132Val) | gnomAD v4 |
| 19 | g.29702906T>G | CA405143184 | C19orf12 | c.232A>C (p.Met78Leu) c.*146A>C (n.*146A>C) n.623A>C c.40A>C (p.Met14Leu) c.265A>C (p.Met89Leu) c.394A>C (p.Met132Leu) | |
| 19 | g.29702907T>A | CA506988066 | C19orf12 | c.231A>T (p.Leu77=) c.*145A>T (n.*145A>T) n.622A>T c.39A>T (p.Leu13=) c.264A>T (p.Leu88=) c.393A>T (p.Leu131=) | |
| 19 | g.29702907T>C | CA506988068 | C19orf12 | c.231A>G (p.Leu77=) c.*145A>G (n.*145A>G) n.622A>G c.39A>G (p.Leu13=) c.264A>G (p.Leu88=) c.393A>G (p.Leu131=) | |
| 19 | g.29702907T>G | CA506988071 | C19orf12 | c.231A>C (p.Leu77=) c.*145A>C (n.*145A>C) n.622A>C c.39A>C (p.Leu13=) c.264A>C (p.Leu88=) c.393A>C (p.Leu131=) | |
| 19 | g.29702908A>C | CA405143187 | C19orf12 | c.230T>G (p.Leu77Arg) c.*144T>G (n.*144T>G) n.621T>G c.38T>G (p.Leu13Arg) c.263T>G (p.Leu88Arg) c.392T>G (p.Leu131Arg) | |
| 19 | g.29702908A>G | CA405143189 | C19orf12 | c.230T>C (p.Leu77Pro) c.*144T>C (n.*144T>C) n.621T>C c.38T>C (p.Leu13Pro) c.263T>C (p.Leu88Pro) c.392T>C (p.Leu131Pro) | |
| 19 | g.29702908A>T | CA405143191 | C19orf12 | c.230T>A (p.Leu77Gln) c.*144T>A (n.*144T>A) n.621T>A c.38T>A (p.Leu13Gln) c.263T>A (p.Leu88Gln) c.392T>A (p.Leu131Gln) | |
| 19 | g.29702909G>A | CA506988081 | C19orf12 | c.229C>T (p.Leu77=) c.*143C>T (n.*143C>T) n.620C>T c.37C>T (p.Leu13=) c.262C>T (p.Leu88=) c.391C>T (p.Leu131=) | |
| 19 | g.29702909G>C | CA405143192 | C19orf12 | c.229C>G (p.Leu77Val) c.*143C>G (n.*143C>G) n.620C>G c.37C>G (p.Leu13Val) c.262C>G (p.Leu88Val) c.391C>G (p.Leu131Val) | |
| 19 | g.29702909G>T | CA405143193 | C19orf12 | c.229C>A (p.Leu77Ile) c.*143C>A (n.*143C>A) n.620C>A c.37C>A (p.Leu13Ile) c.262C>A (p.Leu88Ile) c.391C>A (p.Leu131Ile) | |
| 19 | g.29702910G>A | CA506988084 | C19orf12 | c.228C>T (p.Ile76=) c.*142C>T (n.*142C>T) n.619C>T c.36C>T (p.Ile12=) c.261C>T (p.Ile87=) c.390C>T (p.Ile130=) | |
| 19 | g.29702910G>C | CA405143195 | C19orf12 | c.228C>G (p.Ile76Met) c.*142C>G (n.*142C>G) n.619C>G c.36C>G (p.Ile12Met) c.261C>G (p.Ile87Met) c.390C>G (p.Ile130Met) | |
| 19 | g.29702910G>T | CA506988087 | C19orf12 | c.228C>A (p.Ile76=) c.*142C>A (n.*142C>A) n.619C>A c.36C>A (p.Ile12=) c.261C>A (p.Ile87=) c.390C>A (p.Ile130=) | |
| 19 | g.29702911A>C | CA405143198 | C19orf12 | c.227T>G (p.Ile76Ser) c.*141T>G (n.*141T>G) n.618T>G c.35T>G (p.Ile12Ser) c.260T>G (p.Ile87Ser) c.389T>G (p.Ile130Ser) | |
| 19 | g.29702911A>G | CA405143199 | C19orf12 | c.227T>C (p.Ile76Thr) c.*141T>C (n.*141T>C) n.618T>C c.35T>C (p.Ile12Thr) c.260T>C (p.Ile87Thr) c.389T>C (p.Ile130Thr) | |
| 19 | g.29702911A>T | CA405143201 | C19orf12 | c.227T>A (p.Ile76Asn) c.*141T>A (n.*141T>A) n.618T>A c.35T>A (p.Ile12Asn) c.260T>A (p.Ile87Asn) c.389T>A (p.Ile130Asn) | |
| 19 | g.29702911_29702913delinsATC | CA2330913609 | C19orf12 | c.225_227delinsGAT (p.Gln75=) c.*139_*141delinsGAT (n.*139_*141delinsGAT) n.616_618delinsGAT c.33_35delinsGAT (p.Gln11=) c.258_260delinsGAT (p.Gln86=) c.387_389delinsGAT (p.Gln129=) | |
| 19 | g.29702912T>A | CA405143203 | C19orf12 | c.226A>T (p.Ile76Phe) c.*140A>T (n.*140A>T) n.617A>T c.34A>T (p.Ile12Phe) c.259A>T (p.Ile87Phe) c.388A>T (p.Ile130Phe) | gnomAD v4 |
| 19 | g.29702912T>C | CA405143205 | C19orf12 | c.226A>G (p.Ile76Val) c.*140A>G (n.*140A>G) n.617A>G c.34A>G (p.Ile12Val) c.259A>G (p.Ile87Val) c.388A>G (p.Ile130Val) | |
| 19 | g.29702912T>G | CA405143206 | C19orf12 | c.226A>C (p.Ile76Leu) c.*140A>C (n.*140A>C) n.617A>C c.34A>C (p.Ile12Leu) c.259A>C (p.Ile87Leu) c.388A>C (p.Ile130Leu) | |
| 19 | g.29702912_29702913delinsACTGTTCCTCCA | CA277405 | C19orf12 | c.225_226delinsTGGAGGAACAGT (p.Gln75HisfsTer19) c.*139_*140delinsTGGAGGAACAGT (n.*139_*140delinsTGGAGGAACAGT) n.616_617delinsTGGAGGAACAGT c.33_34delinsTGGAGGAACAGT (p.Gln11HisfsTer19) c.258_259delinsTGGAGGAACAGT (p.Gln86HisfsTer19) c.387_388delinsTGGAGGAACAGT (p.Gln129HisfsTer19) | ClinVar dbSNP |
| 19 | g.29702913C>A | CA405143208 | C19orf12 | c.225G>T (p.Gln75His) c.*139G>T (n.*139G>T) n.616G>T c.33G>T (p.Gln11His) c.258G>T (p.Gln86His) c.387G>T (p.Gln129His) | dbSNP |
| 19 | g.29702913C>G | CA405143210 | C19orf12 | c.225G>C (p.Gln75His) c.*139G>C (n.*139G>C) n.616G>C c.33G>C (p.Gln11His) c.258G>C (p.Gln86His) c.387G>C (p.Gln129His) | |
| 19 | g.29702913C>T | CA506988106 | C19orf12 | c.225G>A (p.Gln75=) c.*139G>A (n.*139G>A) n.616G>A c.33G>A (p.Gln11=) c.258G>A (p.Gln86=) c.387G>A (p.Gln129=) | |
| 19 | g.29702914T>A | CA405143212 | C19orf12 | c.224A>T (p.Gln75Leu) c.*138A>T (n.*138A>T) n.615A>T c.32A>T (p.Gln11Leu) c.257A>T (p.Gln86Leu) c.386A>T (p.Gln129Leu) | |
| 19 | g.29702914T>C | CA405143214 | C19orf12 | c.224A>G (p.Gln75Arg) c.*138A>G (n.*138A>G) n.615A>G c.32A>G (p.Gln11Arg) c.257A>G (p.Gln86Arg) c.386A>G (p.Gln129Arg) | |
| 19 | g.29702914T>G | CA405143216 | C19orf12 | c.224A>C (p.Gln75Pro) c.*138A>C (n.*138A>C) n.615A>C c.32A>C (p.Gln11Pro) c.257A>C (p.Gln86Pro) c.386A>C (p.Gln129Pro) | |
| 19 | g.29702915G>A | CA405143218 | C19orf12 | c.223C>T (p.Gln75Ter) c.*137C>T (n.*137C>T) n.614C>T c.31C>T (p.Gln11Ter) c.256C>T (p.Gln86Ter) c.385C>T (p.Gln129Ter) | |
| 19 | g.29702915G>C | CA405143221 | C19orf12 | c.223C>G (p.Gln75Glu) c.*137C>G (n.*137C>G) n.614C>G c.31C>G (p.Gln11Glu) c.256C>G (p.Gln86Glu) c.385C>G (p.Gln129Glu) | |
| 19 | g.29702915G>T | CA405143220 | C19orf12 | c.223C>A (p.Gln75Lys) c.*137C>A (n.*137C>A) n.614C>A c.31C>A (p.Gln11Lys) c.256C>A (p.Gln86Lys) c.385C>A (p.Gln129Lys) | |
| 19 | g.29702916A>C | CA506988117 | C19orf12 | c.222T>G (p.Pro74=) c.*136T>G (n.*136T>G) n.613T>G c.30T>G (p.Pro10=) c.255T>G (p.Pro85=) c.384T>G (p.Pro128=) | |
| 19 | g.29702916A>G | CA506988120 | C19orf12 | c.222T>C (p.Pro74=) c.*136T>C (n.*136T>C) n.613T>C c.30T>C (p.Pro10=) c.255T>C (p.Pro85=) c.384T>C (p.Pro128=) | |
| 19 | g.29702916A>T | CA506988123 | C19orf12 | c.222T>A (p.Pro74=) c.*136T>A (n.*136T>A) n.613T>A c.30T>A (p.Pro10=) c.255T>A (p.Pro85=) c.384T>A (p.Pro128=) | |
| 19 | g.29702916dup | CA2580060370 | C19orf12 | c.222dup (p.Gln75SerfsTer16) c.*136dup (n.*136dup) n.613dup c.30dup (p.Gln11SerfsTer16) c.255dup (p.Gln86SerfsTer16) c.384dup (p.Gln129SerfsTer16) | |
| 19 | g.29702917G>A | CA405143222 | C19orf12 | c.221C>T (p.Pro74Leu) c.*135C>T (n.*135C>T) n.612C>T c.29C>T (p.Pro10Leu) c.254C>T (p.Pro85Leu) c.383C>T (p.Pro128Leu) | dbSNP gnomAD v4 |
| 19 | g.29702917G>C | CA9351910 | C19orf12 | c.221C>G (p.Pro74Arg) c.*135C>G (n.*135C>G) n.612C>G c.29C>G (p.Pro10Arg) c.254C>G (p.Pro85Arg) c.383C>G (p.Pro128Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702917G= | CA2330913610 | C19orf12 | c.221C= (p.Pro74=) c.*135C= (n.*135C=) n.612C= c.29C= (p.Pro10=) c.254C= (p.Pro85=) c.383C= (p.Pro128=) | |
| 19 | g.29702917G>T | CA405143224 | C19orf12 | c.221C>A (p.Pro74His) c.*135C>A (n.*135C>A) n.612C>A c.29C>A (p.Pro10His) c.254C>A (p.Pro85His) c.383C>A (p.Pro128His) | |
| 19 | g.29702918G>A | CA405143234 | C19orf12 | c.220C>T (p.Pro74Ser) c.*134C>T (n.*134C>T) n.611C>T c.28C>T (p.Pro10Ser) c.253C>T (p.Pro85Ser) c.382C>T (p.Pro128Ser) | |
| 19 | g.29702918G>C | CA405143238 | C19orf12 | c.220C>G (p.Pro74Ala) c.*134C>G (n.*134C>G) n.611C>G c.28C>G (p.Pro10Ala) c.253C>G (p.Pro85Ala) c.382C>G (p.Pro128Ala) | |
| 19 | g.29702918G>T | CA405143240 | C19orf12 | c.220C>A (p.Pro74Thr) c.*134C>A (n.*134C>A) n.611C>A c.28C>A (p.Pro10Thr) c.253C>A (p.Pro85Thr) c.382C>A (p.Pro128Thr) | |
| 19 | g.29702919A>C | CA506988140 | C19orf12 | c.219T>G (p.Val73=) c.*133T>G (n.*133T>G) n.610T>G c.27T>G (p.Val9=) c.252T>G (p.Val84=) c.381T>G (p.Val127=) | |
| 19 | g.29702919A>G | CA506988142 | C19orf12 | c.219T>C (p.Val73=) c.*133T>C (n.*133T>C) n.610T>C c.27T>C (p.Val9=) c.252T>C (p.Val84=) c.381T>C (p.Val127=) | |
| 19 | g.29702919A>T | CA506988138 | C19orf12 | c.219T>A (p.Val73=) c.*133T>A (n.*133T>A) n.610T>A c.27T>A (p.Val9=) c.252T>A (p.Val84=) c.381T>A (p.Val127=) | |
| 19 | g.29702920A= | CA2330913611 | C19orf12 | c.218T= (p.Val73=) c.*132T= (n.*132T=) n.609T= c.26T= (p.Val9=) c.251T= (p.Val84=) c.380T= (p.Val127=) | |
| 19 | g.29702920A>C | CA405143243 | C19orf12 | c.218T>G (p.Val73Gly) c.*132T>G (n.*132T>G) n.609T>G c.26T>G (p.Val9Gly) c.251T>G (p.Val84Gly) c.380T>G (p.Val127Gly) | |
| 19 | g.29702920A>G | CA306785378 | C19orf12 | c.218T>C (p.Val73Ala) c.*132T>C (n.*132T>C) n.609T>C c.26T>C (p.Val9Ala) c.251T>C (p.Val84Ala) c.380T>C (p.Val127Ala) | dbSNP gnomAD v4 |
| 19 | g.29702920A>T | CA405143246 | C19orf12 | c.218T>A (p.Val73Asp) c.*132T>A (n.*132T>A) n.609T>A c.26T>A (p.Val9Asp) c.251T>A (p.Val84Asp) c.380T>A (p.Val127Asp) | |
| 19 | g.29702921C>A | CA405143251 | C19orf12 | c.217G>T (p.Val73Phe) c.*131G>T (n.*131G>T) n.608G>T c.25G>T (p.Val9Phe) c.250G>T (p.Val84Phe) c.379G>T (p.Val127Phe) | |
| 19 | g.29702921C>G | CA405143253 | C19orf12 | c.217G>C (p.Val73Leu) c.*131G>C (n.*131G>C) n.608G>C c.25G>C (p.Val9Leu) c.250G>C (p.Val84Leu) c.379G>C (p.Val127Leu) | |
| 19 | g.29702921C>T | CA405143254 | C19orf12 | c.217G>A (p.Val73Ile) c.*131G>A (n.*131G>A) n.608G>A c.25G>A (p.Val9Ile) c.250G>A (p.Val84Ile) c.379G>A (p.Val127Ile) | |
| 19 | g.29702922C>A | CA506988165 | C19orf12 | c.216G>T (p.Pro72=) c.*130G>T (n.*130G>T) n.607G>T c.24G>T (p.Pro8=) c.249G>T (p.Pro83=) c.378G>T (p.Pro126=) | |
| 19 | g.29702922C= | CA2330913612 | C19orf12 | c.216G= (p.Pro72=) c.*130G= (n.*130G=) n.607G= c.24G= (p.Pro8=) c.249G= (p.Pro83=) c.378G= (p.Pro126=) | |
| 19 | g.29702922C>G | CA506988162 | C19orf12 | c.216G>C (p.Pro72=) c.*130G>C (n.*130G>C) n.607G>C c.24G>C (p.Pro8=) c.249G>C (p.Pro83=) c.378G>C (p.Pro126=) | |
| 19 | g.29702922C>T | CA9351911 | C19orf12 | c.216G>A (p.Pro72=) c.*130G>A (n.*130G>A) n.607G>A c.24G>A (p.Pro8=) c.249G>A (p.Pro83=) c.378G>A (p.Pro126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.29702923G>A | CA9351912 | C19orf12 | c.215C>T (p.Pro72Leu) c.*129C>T (n.*129C>T) n.606C>T c.23C>T (p.Pro8Leu) c.248C>T (p.Pro83Leu) c.377C>T (p.Pro126Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702923G>C | CA405143256 | C19orf12 | c.215C>G (p.Pro72Arg) c.*129C>G (n.*129C>G) n.606C>G c.23C>G (p.Pro8Arg) c.248C>G (p.Pro83Arg) c.377C>G (p.Pro126Arg) | |
| 19 | g.29702923G= | CA2330913613 | C19orf12 | c.215C= (p.Pro72=) c.*129C= (n.*129C=) n.606C= c.23C= (p.Pro8=) c.248C= (p.Pro83=) c.377C= (p.Pro126=) | |
| 19 | g.29702923G>T | CA405143257 | C19orf12 | c.215C>A (p.Pro72Gln) c.*129C>A (n.*129C>A) n.606C>A c.23C>A (p.Pro8Gln) c.248C>A (p.Pro83Gln) c.377C>A (p.Pro126Gln) | ClinVar |
| 19 | g.29702924G>A | CA405143263 | C19orf12 | c.214C>T (p.Pro72Ser) c.*128C>T (n.*128C>T) n.605C>T c.22C>T (p.Pro8Ser) c.247C>T (p.Pro83Ser) c.376C>T (p.Pro126Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.29702924G>C | CA405143260 | C19orf12 | c.214C>G (p.Pro72Ala) c.*128C>G (n.*128C>G) n.605C>G c.22C>G (p.Pro8Ala) c.247C>G (p.Pro83Ala) c.376C>G (p.Pro126Ala) | |
| 19 | g.29702924G= | CA2330913614 | C19orf12 | c.214C= (p.Pro72=) c.*128C= (n.*128C=) n.605C= c.22C= (p.Pro8=) c.247C= (p.Pro83=) c.376C= (p.Pro126=) | |
| 19 | g.29702924G>T | CA405143259 | C19orf12 | c.214C>A (p.Pro72Thr) c.*128C>A (n.*128C>A) n.605C>A c.22C>A (p.Pro8Thr) c.247C>A (p.Pro83Thr) c.376C>A (p.Pro126Thr) | |
| 19 | g.29702925C>A | CA405143267 | C19orf12 | c.213G>T (p.Lys71Asn) c.*127G>T (n.*127G>T) n.604G>T c.21G>T (p.Lys7Asn) c.246G>T (p.Lys82Asn) c.375G>T (p.Lys125Asn) | |
| 19 | g.29702925C= | CA2330913615 | C19orf12 | c.213G= (p.Lys71=) c.*127G= (n.*127G=) n.604G= c.21G= (p.Lys7=) c.246G= (p.Lys82=) c.375G= (p.Lys125=) | |
| 19 | g.29702925C>G | CA405143273 | C19orf12 | c.213G>C (p.Lys71Asn) c.*127G>C (n.*127G>C) n.604G>C c.21G>C (p.Lys7Asn) c.246G>C (p.Lys82Asn) c.375G>C (p.Lys125Asn) | |
| 19 | g.29702925C>T | CA506988180 | C19orf12 | c.213G>A (p.Lys71=) c.*127G>A (n.*127G>A) n.604G>A c.21G>A (p.Lys7=) c.246G>A (p.Lys82=) c.375G>A (p.Lys125=) | gnomAD v4 |
| 19 | g.29702926T>A | CA405143275 | C19orf12 | c.212A>T (p.Lys71Met) c.*126A>T (n.*126A>T) n.603A>T c.20A>T (p.Lys7Met) c.245A>T (p.Lys82Met) c.374A>T (p.Lys125Met) | |
| 19 | g.29702926T>C | CA9351913 | C19orf12 | c.212A>G (p.Lys71Arg) c.*126A>G (n.*126A>G) n.603A>G c.20A>G (p.Lys7Arg) c.245A>G (p.Lys82Arg) c.374A>G (p.Lys125Arg) | dbSNP ExAC gnomAD v2 |
| 19 | g.29702926T>G | CA405143279 | C19orf12 | c.212A>C (p.Lys71Thr) c.*126A>C (n.*126A>C) n.603A>C c.20A>C (p.Lys7Thr) c.245A>C (p.Lys82Thr) c.374A>C (p.Lys125Thr) | |
| 19 | g.29702926T= | CA2330913616 | C19orf12 | c.212A= (p.Lys71=) c.*126A= (n.*126A=) n.603A= c.20A= (p.Lys7=) c.245A= (p.Lys82=) c.374A= (p.Lys125=) | |
| 19 | g.29702926_29702927dup | CA1139666389 | C19orf12 | c.211_212dup (p.Pro72SerfsTer7) c.*125_*126dup (n.*125_*126dup) n.602_603dup c.19_20dup (p.Pro8SerfsTer7) c.244_245dup (p.Pro83SerfsTer7) c.373_374dup (p.Pro126SerfsTer7) | ClinVar dbSNP |
| 19 | g.29702927T>A | CA405143281 | C19orf12 | c.211A>T (p.Lys71Ter) c.*125A>T (n.*125A>T) n.602A>T c.19A>T (p.Lys7Ter) c.244A>T (p.Lys82Ter) c.373A>T (p.Lys125Ter) | |
| 19 | g.29702927T>C | CA405143284 | C19orf12 | c.211A>G (p.Lys71Glu) c.*125A>G (n.*125A>G) n.602A>G c.19A>G (p.Lys7Glu) c.244A>G (p.Lys82Glu) c.373A>G (p.Lys125Glu) | |
| 19 | g.29702927T>G | CA405143285 | C19orf12 | c.211A>C (p.Lys71Gln) c.*125A>C (n.*125A>C) n.602A>C c.19A>C (p.Lys7Gln) c.244A>C (p.Lys82Gln) c.373A>C (p.Lys125Gln) | |
| 19 | g.29702928A>C | CA405143289 | C19orf12 | c.210T>G (p.Phe70Leu) c.*124T>G (n.*124T>G) n.601T>G c.18T>G (p.Phe6Leu) c.243T>G (p.Phe81Leu) c.372T>G (p.Phe124Leu) | |
| 19 | g.29702928A>G | CA506988194 | C19orf12 | c.210T>C (p.Phe70=) c.*124T>C (n.*124T>C) n.601T>C c.18T>C (p.Phe6=) c.243T>C (p.Phe81=) c.372T>C (p.Phe124=) | |
| 19 | g.29702928A>T | CA405143293 | C19orf12 | c.210T>A (p.Phe70Leu) c.*124T>A (n.*124T>A) n.601T>A c.18T>A (p.Phe6Leu) c.243T>A (p.Phe81Leu) c.372T>A (p.Phe124Leu) | |
| 19 | g.29702930del | CA2580096778 | C19orf12 | c.210del (p.Phe70LeufsTer8) c.*124del (n.*124del) n.601del c.18del (p.Phe6LeufsTer8) c.243del (p.Phe81LeufsTer8) c.372del (p.Phe124LeufsTer8) | ClinVar |
| 19 | g.29702929A>C | CA405143296 | C19orf12 | c.209T>G (p.Phe70Cys) c.*123T>G (n.*123T>G) n.600T>G c.17T>G (p.Phe6Cys) c.242T>G (p.Phe81Cys) c.371T>G (p.Phe124Cys) | |
| 19 | g.29702929A>G | CA405143298 | C19orf12 | c.209T>C (p.Phe70Ser) c.*123T>C (n.*123T>C) n.600T>C c.17T>C (p.Phe6Ser) c.242T>C (p.Phe81Ser) c.371T>C (p.Phe124Ser) | |
| 19 | g.29702929A>T | CA405143299 | C19orf12 | c.209T>A (p.Phe70Tyr) c.*123T>A (n.*123T>A) n.600T>A c.17T>A (p.Phe6Tyr) c.242T>A (p.Phe81Tyr) c.371T>A (p.Phe124Tyr) | |
| 19 | g.29702930A>C | CA405143303 | C19orf12 | c.208T>G (p.Phe70Val) c.*122T>G (n.*122T>G) n.599T>G c.16T>G (p.Phe6Val) c.241T>G (p.Phe81Val) c.370T>G (p.Phe124Val) | |
| 19 | g.29702930A>G | CA405143302 | C19orf12 | c.208T>C (p.Phe70Leu) c.*122T>C (n.*122T>C) n.599T>C c.16T>C (p.Phe6Leu) c.241T>C (p.Phe81Leu) c.370T>C (p.Phe124Leu) | |
| 19 | g.29702930A>T | CA405143301 | C19orf12 | c.208T>A (p.Phe70Ile) c.*122T>A (n.*122T>A) n.599T>A c.16T>A (p.Phe6Ile) c.241T>A (p.Phe81Ile) c.370T>A (p.Phe124Ile) | |
| 19 | g.29702931C>A | CA405143304 | C19orf12 | c.207G>T (p.Gln69His) c.*121G>T (n.*121G>T) n.598G>T c.15G>T (p.Gln5His) c.240G>T (p.Gln80His) c.369G>T (p.Gln123His) | |
| 19 | g.29702931C= | CA2330913617 | C19orf12 | c.207G= (p.Gln69=) c.*121G= (n.*121G=) n.598G= c.15G= (p.Gln5=) c.240G= (p.Gln80=) c.369G= (p.Gln123=) | |
| 19 | g.29702931C>G | CA9351914 | C19orf12 | c.207G>C (p.Gln69His) c.*121G>C (n.*121G>C) n.598G>C c.15G>C (p.Gln5His) c.240G>C (p.Gln80His) c.369G>C (p.Gln123His) | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.29702931C>T | CA506988211 | C19orf12 | c.207G>A (p.Gln69=) c.*121G>A (n.*121G>A) n.598G>A c.15G>A (p.Gln5=) c.240G>A (p.Gln80=) c.369G>A (p.Gln123=) | |
| 19 | g.29702932T>A | CA405143305 | C19orf12 | c.206A>T (p.Gln69Leu) c.*120A>T (n.*120A>T) n.597A>T c.14A>T (p.Gln5Leu) c.239A>T (p.Gln80Leu) c.368A>T (p.Gln123Leu) | gnomAD v4 |
| 19 | g.29702932T>C | CA405143307 | C19orf12 | c.206A>G (p.Gln69Arg) c.*120A>G (n.*120A>G) n.597A>G c.14A>G (p.Gln5Arg) c.239A>G (p.Gln80Arg) c.368A>G (p.Gln123Arg) | |
| 19 | g.29702932T>G | CA405143308 | C19orf12 | c.206A>C (p.Gln69Pro) c.*120A>C (n.*120A>C) n.597A>C c.14A>C (p.Gln5Pro) c.239A>C (p.Gln80Pro) c.368A>C (p.Gln123Pro) | |
| 19 | g.29702933G>A | CA16621727 | C19orf12 | c.205C>T (p.Gln69Ter) c.*119C>T (n.*119C>T) n.596C>T c.13C>T (p.Gln5Ter) c.238C>T (p.Gln80Ter) c.367C>T (p.Gln123Ter) | ClinVar dbSNP |
| 19 | g.29702933G>C | CA405143310 | C19orf12 | c.205C>G (p.Gln69Glu) c.*119C>G (n.*119C>G) n.596C>G c.13C>G (p.Gln5Glu) c.238C>G (p.Gln80Glu) c.367C>G (p.Gln123Glu) | |
| 19 | g.29702933G= | CA2330913618 | C19orf12 | c.205C= (p.Gln69=) c.*119C= (n.*119C=) n.596C= c.13C= (p.Gln5=) c.238C= (p.Gln80=) c.367C= (p.Gln123=) | |
| 19 | g.29702933G>T | CA405143311 | C19orf12 | c.205C>A (p.Gln69Lys) c.*119C>A (n.*119C>A) n.596C>A c.13C>A (p.Gln5Lys) c.238C>A (p.Gln80Lys) c.367C>A (p.Gln123Lys) | |
| 19 | g.29702933_29702944delinsGTCCACTTGTCA | CA2330913619 | C19orf12 | c.194_205delinsTGACAAGTGGAC (p.Met65=) c.*108_*119delinsTGACAAGTGGAC (n.*108_*119delinsTGACAAGTGGAC) n.585_596delinsTGACAAGTGGAC c.2_13delinsTGACAAGTGGAC (p.Met1=) c.227_238delinsTGACAAGTGGAC (p.Met76=) c.356_367delinsTGACAAGTGGAC (p.Met119=) | |
| 19 | g.29702934T>A | CA506988225 | C19orf12 | c.204A>T (p.Gly68=) c.*118A>T (n.*118A>T) n.595A>T c.12A>T (p.Gly4=) c.237A>T (p.Gly79=) c.366A>T (p.Gly122=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.29702934T>C | CA506988227 | C19orf12 | c.204A>G (p.Gly68=) c.*118A>G (n.*118A>G) n.595A>G c.12A>G (p.Gly4=) c.237A>G (p.Gly79=) c.366A>G (p.Gly122=) | COSMIC COSMIC |
| 19 | g.29702934T>G | CA506988228 | C19orf12 | c.204A>C (p.Gly68=) c.*118A>C (n.*118A>C) n.595A>C c.12A>C (p.Gly4=) c.237A>C (p.Gly79=) c.366A>C (p.Gly122=) | |
| 19 | g.29702934T= | CA2330913620 | C19orf12 | c.204A= (p.Gly68=) c.*118A= (n.*118A=) n.595A= c.12A= (p.Gly4=) c.237A= (p.Gly79=) c.366A= (p.Gly122=) | |
| 19 | g.29702938_29702948del | CA915952935 | C19orf12 | c.194_204del (p.Met65ThrfsTer3) c.*108_*118del (n.*108_*118del) n.585_595del c.2_12del (p.Met1ThrfsTer3) c.227_237del (p.Met76ThrfsTer3) c.356_366del (p.Met119ThrfsTer3) | ClinVar dbSNP |
| 19 | g.29702935C>A | CA405143312 | C19orf12 | c.203G>T (p.Gly68Val) c.*117G>T (n.*117G>T) n.594G>T c.11G>T (p.Gly4Val) c.236G>T (p.Gly79Val) c.365G>T (p.Gly122Val) | |
| 19 | g.29702935C>G | CA405143313 | C19orf12 | c.203G>C (p.Gly68Ala) c.*117G>C (n.*117G>C) n.594G>C c.11G>C (p.Gly4Ala) c.236G>C (p.Gly79Ala) c.365G>C (p.Gly122Ala) | |
| 19 | g.29702935C>T | CA405143315 | C19orf12 | c.203G>A (p.Gly68Glu) c.*117G>A (n.*117G>A) n.594G>A c.11G>A (p.Gly4Glu) c.236G>A (p.Gly79Glu) c.365G>A (p.Gly122Glu) | |
| 19 | g.29702936C>A | CA405143318 | C19orf12 | c.202G>T (p.Gly68Ter) c.*116G>T (n.*116G>T) n.593G>T c.10G>T (p.Gly4Ter) c.235G>T (p.Gly79Ter) c.364G>T (p.Gly122Ter) | |
| 19 | g.29702936C= | CA2330913621 | C19orf12 | c.202G= (p.Gly68=) c.*116G= (n.*116G=) n.593G= c.10G= (p.Gly4=) c.235G= (p.Gly79=) c.364G= (p.Gly122=) | |
| 19 | g.29702936C>G | CA405143325 | C19orf12 | c.202G>C (p.Gly68Arg) c.*116G>C (n.*116G>C) n.593G>C c.10G>C (p.Gly4Arg) c.235G>C (p.Gly79Arg) c.364G>C (p.Gly122Arg) | |
| 19 | g.29702936C>T | CA405143327 | C19orf12 | c.202G>A (p.Gly68Arg) c.*116G>A (n.*116G>A) n.593G>A c.10G>A (p.Gly4Arg) c.235G>A (p.Gly79Arg) c.364G>A (p.Gly122Arg) | dbSNP gnomAD v2 |
| 19 | g.29702937A= | CA2330913622 | C19orf12 | c.201T= (p.Ser67=) c.*115T= (n.*115T=) n.592T= c.9T= (p.Ser3=) c.234T= (p.Ser78=) c.363T= (p.Ser121=) | |
| 19 | g.29702937A>C | CA405143328 | C19orf12 | c.201T>G (p.Ser67Arg) c.*115T>G (n.*115T>G) n.592T>G c.9T>G (p.Ser3Arg) c.234T>G (p.Ser78Arg) c.363T>G (p.Ser121Arg) | |
| 19 | g.29702937A>G | CA506988241 | C19orf12 | c.201T>C (p.Ser67=) c.*115T>C (n.*115T>C) n.592T>C c.9T>C (p.Ser3=) c.234T>C (p.Ser78=) c.363T>C (p.Ser121=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.29702937A>T | CA405143329 | C19orf12 | c.201T>A (p.Ser67Arg) c.*115T>A (n.*115T>A) n.592T>A c.9T>A (p.Ser3Arg) c.234T>A (p.Ser78Arg) c.363T>A (p.Ser121Arg) | |
| 19 | g.29702938C>A | CA405143334 | C19orf12 | c.200G>T (p.Ser67Ile) c.*114G>T (n.*114G>T) n.591G>T c.8G>T (p.Ser3Ile) c.233G>T (p.Ser78Ile) c.362G>T (p.Ser121Ile) | gnomAD v4 |
| 19 | g.29702938C= | CA2330913623 | C19orf12 | c.200G= (p.Ser67=) c.*114G= (n.*114G=) n.591G= c.8G= (p.Ser3=) c.233G= (p.Ser78=) c.362G= (p.Ser121=) | |
| 19 | g.29702938C>G | CA405143337 | C19orf12 | c.200G>C (p.Ser67Thr) c.*114G>C (n.*114G>C) n.591G>C c.8G>C (p.Ser3Thr) c.233G>C (p.Ser78Thr) c.362G>C (p.Ser121Thr) | |
| 19 | g.29702938C>T | CA9351915 | C19orf12 | c.200G>A (p.Ser67Asn) c.*114G>A (n.*114G>A) n.591G>A c.8G>A (p.Ser3Asn) c.233G>A (p.Ser78Asn) c.362G>A (p.Ser121Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |