Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.55680761_55680855del | CA2659134350 | PNPT1 | c.517+1_518-1del c.518_*72del (n.[c.518_*72del;Gly173AlafsTer?]) c.*165+1_*166-1del c.277+1_278-1del n.547+1_548-1del | gnomAD v4 |
2 | g.55680828A>T | CA2659134374 | PNPT1 | c.517+27T>A (n.517+27T>A) c.*4T>A (n.*4T>A) c.*165+27T>A (n.*165+27T>A) c.277+27T>A (n.277+27T>A) n.547+27T>A | gnomAD v4 |
2 | g.55680829A= | CA1252405683 | PNPT1 | c.517+26T= (n.517+26T=) c.*3T= (n.*3T=) c.*165+26T= (n.*165+26T=) c.277+26T= (n.277+26T=) n.547+26T= | |
2 | g.55680829A>T | CA532797688 | PNPT1 | c.517+26T>A (n.517+26T>A) c.*3T>A (n.*3T>A) c.*165+26T>A (n.*165+26T>A) c.277+26T>A (n.277+26T>A) n.547+26T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.55680829_55680830delinsAT | CA1252405682 | PNPT1 | c.517+25_517+26delinsAT (n.517+25_517+26delinsAT) c.*2_*3delinsAT (n.*2_*3delinsAT) c.*165+25_*165+26delinsAT (n.*165+25_*165+26delinsAT) c.277+25_277+26delinsAT (n.277+25_277+26delinsAT) n.547+25_547+26delinsAT | |
2 | g.55680830T>A | CA646667703 | PNPT1 | c.517+25A>T (n.517+25A>T) c.*2A>T (n.*2A>T) c.*165+25A>T (n.*165+25A>T) c.277+25A>T (n.277+25A>T) n.547+25A>T | COSMIC |
2 | g.55680833del | CA1668441 | PNPT1 | c.517+25del (n.517+25del) c.*2del (n.*2del) c.*165+25del (n.*165+25del) c.277+25del (n.277+25del) n.547+25del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.55680832T>C | CA2659134375 | PNPT1 | c.517+23A>G (n.517+23A>G) c.540A>G (p.Ter180=) c.*165+23A>G (n.*165+23A>G) c.277+23A>G (n.277+23A>G) n.547+23A>G | gnomAD v4 |
2 | g.55680832T>G | CA2659134376 | PNPT1 | c.517+23A>C (n.517+23A>C) c.540A>C (p.Ter180Tyr) c.*165+23A>C (n.*165+23A>C) c.277+23A>C (n.277+23A>C) n.547+23A>C | gnomAD v4 |
2 | g.55680833T>C | CA532797690 | PNPT1 | c.517+22A>G (n.517+22A>G) c.539A>G (p.Ter180=) c.*165+22A>G (n.*165+22A>G) c.277+22A>G (n.277+22A>G) n.547+22A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.55680833T= | CA1252405684 | PNPT1 | c.517+22A= (n.517+22A=) c.539A= (p.Ter180=) c.*165+22A= (n.*165+22A=) c.277+22A= (n.277+22A=) n.547+22A= | |
2 | g.55680835del | CA2659134377 | PNPT1 | c.517+21del (n.517+21del) c.538del (p.Ter180LysextTer12) c.*165+21del (n.*165+21del) c.277+21del (n.277+21del) n.547+21del | gnomAD v4 |
2 | g.55680835A= | CA1252405685 | PNPT1 | c.517+20T= (n.517+20T=) c.537T= (p.Asp179=) c.*165+20T= (n.*165+20T=) c.277+20T= (n.277+20T=) n.547+20T= | |
2 | g.55680835A>G | CA646667704 | PNPT1 | c.517+20T>C (n.517+20T>C) c.537T>C (p.Asp179=) c.*165+20T>C (n.*165+20T>C) c.277+20T>C (n.277+20T>C) n.547+20T>C | dbSNP COSMIC |
2 | g.55680835A>T | CA770362846 | PNPT1 | c.517+20T>A (n.517+20T>A) c.537T>A (p.Asp179Glu) c.*165+20T>A (n.*165+20T>A) c.277+20T>A (n.277+20T>A) n.547+20T>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.55680837C>G | CA2659134378 | PNPT1 | c.517+18G>C (n.517+18G>C) c.535G>C (p.Asp179His) c.*165+18G>C (n.*165+18G>C) c.277+18G>C (n.277+18G>C) n.547+18G>C | gnomAD v4 |
2 | g.55680837C>T | CA2538149550 | PNPT1 | c.517+18G>A (n.517+18G>A) c.535G>A (p.Asp179Asn) c.*165+18G>A (n.*165+18G>A) c.277+18G>A (n.277+18G>A) n.547+18G>A | gnomAD v4 |
2 | g.55680839C>T | CA2576973279 | PNPT1 | c.517+16G>A (n.517+16G>A) c.533G>A (p.Arg178Lys) c.*165+16G>A (n.*165+16G>A) c.277+16G>A (n.277+16G>A) n.547+16G>A | |
2 | g.55680842C>A | CA2659134379 | PNPT1 | c.517+13G>T (n.517+13G>T) c.530G>T (p.Ser177Ile) c.*165+13G>T (n.*165+13G>T) c.277+13G>T (n.277+13G>T) n.547+13G>T | gnomAD v4 |
2 | g.55680843T>C | CA1030926011 | PNPT1 | c.517+12A>G (n.517+12A>G) c.529A>G (p.Ser177Gly) c.*165+12A>G (n.*165+12A>G) c.277+12A>G (n.277+12A>G) n.547+12A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.55680843T= | CA1252405686 | PNPT1 | c.517+12A= (n.517+12A=) c.529A= (p.Ser177=) c.*165+12A= (n.*165+12A=) c.277+12A= (n.277+12A=) n.547+12A= | |
2 | g.55680846T>C | CA2576973280 | PNPT1 | c.517+9A>G (n.517+9A>G) c.526A>G (p.Lys176Glu) c.*165+9A>G (n.*165+9A>G) c.277+9A>G (n.277+9A>G) n.547+9A>G | ClinVar |
2 | g.55680847A= | CA1252405687 | PNPT1 | c.517+8T= (n.517+8T=) c.525T= (p.Tyr175=) c.*165+8T= (n.*165+8T=) c.277+8T= (n.277+8T=) n.547+8T= | |
2 | g.55680847A>G | CA2750013039 | PNPT1 | c.517+8T>C (n.517+8T>C) c.525T>C (p.Tyr175=) c.*165+8T>C (n.*165+8T>C) c.277+8T>C (n.277+8T>C) n.547+8T>C | |
2 | g.55680847A>T | CA1252405688 | PNPT1 | c.517+8T>A (n.517+8T>A) c.525T>A (p.Tyr175Ter) c.*165+8T>A (n.*165+8T>A) c.277+8T>A (n.277+8T>A) n.547+8T>A | dbSNP |
2 | g.55680848T>A | CA1668442 | PNPT1 | c.517+7A>T (n.517+7A>T) c.524A>T (p.Tyr175Phe) c.*165+7A>T (n.*165+7A>T) c.277+7A>T (n.277+7A>T) n.547+7A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.55680848T>C | CA645538425 | PNPT1 | c.517+7A>G (n.517+7A>G) c.524A>G (p.Tyr175Cys) c.*165+7A>G (n.*165+7A>G) c.277+7A>G (n.277+7A>G) n.547+7A>G | gnomAD v4 COSMIC |
2 | g.55680848T= | CA1252405689 | PNPT1 | c.517+7A= (n.517+7A=) c.524A= (p.Tyr175=) c.*165+7A= (n.*165+7A=) c.277+7A= (n.277+7A=) n.547+7A= | |
2 | g.55680853A= | CA1252405690 | PNPT1 | c.517+2T= (n.517+2T=) c.519T= (p.Gly173=) c.*165+2T= (n.*165+2T=) c.277+2T= (n.277+2T=) n.547+2T= | |
2 | g.55680853A>C | CA346938837 | PNPT1 | c.517+2T>G (n.517+2T>G) c.519T>G (p.Gly173=) c.*165+2T>G (n.*165+2T>G) c.277+2T>G (n.277+2T>G) n.547+2T>G | dbSNP |
2 | g.55680853A>G | CA346938838 | PNPT1 | c.517+2T>C (n.517+2T>C) c.519T>C (p.Gly173=) c.*165+2T>C (n.*165+2T>C) c.277+2T>C (n.277+2T>C) n.547+2T>C | |
2 | g.55680853A>T | CA346938839 | PNPT1 | c.517+2T>A (n.517+2T>A) c.519T>A (p.Gly173=) c.*165+2T>A (n.*165+2T>A) c.277+2T>A (n.277+2T>A) n.547+2T>A | |
2 | g.55680854C>A | CA346938840 | PNPT1 | c.517+1G>T (n.517+1G>T) c.518G>T (p.Gly173Val) c.*165+1G>T (n.*165+1G>T) c.277+1G>T (n.277+1G>T) n.547+1G>T | |
2 | g.55680854C>G | CA346938841 | PNPT1 | c.517+1G>C (n.517+1G>C) c.518G>C (p.Gly173Ala) c.*165+1G>C (n.*165+1G>C) c.277+1G>C (n.277+1G>C) n.547+1G>C | |
2 | g.55680854C>T | CA346938842 | PNPT1 | c.517+1G>A (n.517+1G>A) c.518G>A (p.Gly173Asp) c.*165+1G>A (n.*165+1G>A) c.277+1G>A (n.277+1G>A) n.547+1G>A | |
2 | g.55680855C>A | CA346938844 | PNPT1 | c.517G>T (p.Ala173Ser) c.517G>T (p.Gly173Cys) c.*165G>T (n.*165G>T) c.277G>T (p.Ala93Ser) n.547G>T | |
2 | g.55680855C= | CA1252405691 | PNPT1 | c.517G= (p.Ala173=) c.517G= (p.Gly173=) c.*165G= (n.*165G=) c.277G= (p.Ala93=) n.547G= | |
2 | g.55680855C>G | CA346938843 | PNPT1 | c.517G>C (p.Ala173Pro) c.517G>C (p.Gly173Arg) c.*165G>C (n.*165G>C) c.277G>C (p.Ala93Pro) n.547G>C | |
2 | g.55680855C>T | CA1668443 | PNPT1 | c.517G>A (p.Ala173Thr) c.517G>A (p.Gly173Ser) c.*165G>A (n.*165G>A) c.277G>A (p.Ala93Thr) n.547G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.55680856G>A | CA1668444 | PNPT1 | c.516C>T (p.Gly172=) c.*164C>T (n.*164C>T) c.276C>T (p.Gly92=) n.546C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.55680856G>C | CA426175441 | PNPT1 | c.516C>G (p.Gly172=) c.*164C>G (n.*164C>G) c.276C>G (p.Gly92=) n.546C>G | |
2 | g.55680856G= | CA1252405692 | PNPT1 | c.516C= (p.Gly172=) c.*164C= (n.*164C=) c.276C= (p.Gly92=) n.546C= | |
2 | g.55680856G>T | CA426175442 | PNPT1 | c.516C>A (p.Gly172=) c.*164C>A (n.*164C>A) c.276C>A (p.Gly92=) n.546C>A | gnomAD v4 |
2 | g.55680857C>A | CA346938845 | PNPT1 | c.515G>T (p.Gly172Val) c.*163G>T (n.*163G>T) c.275G>T (p.Gly92Val) n.545G>T | |
2 | g.55680857C>G | CA346938846 | PNPT1 | c.515G>C (p.Gly172Ala) c.*163G>C (n.*163G>C) c.275G>C (p.Gly92Ala) n.545G>C | |
2 | g.55680857C>T | CA346938847 | PNPT1 | c.515G>A (p.Gly172Asp) c.*163G>A (n.*163G>A) c.275G>A (p.Gly92Asp) n.545G>A | |
2 | g.55680858C>A | CA346938848 | PNPT1 | c.514G>T (p.Gly172Cys) c.*162G>T (n.*162G>T) c.274G>T (p.Gly92Cys) n.544G>T | |
2 | g.55680858C>G | CA346938849 | PNPT1 | c.514G>C (p.Gly172Arg) c.*162G>C (n.*162G>C) c.274G>C (p.Gly92Arg) n.544G>C | |
2 | g.55680858C>T | CA346938850 | PNPT1 | c.514G>A (p.Gly172Ser) c.*162G>A (n.*162G>A) c.274G>A (p.Gly92Ser) n.544G>A | |
2 | g.55680859A>C | CA346938851 | PNPT1 | c.513T>G (p.Asn171Lys) c.*161T>G (n.*161T>G) c.273T>G (p.Asn91Lys) n.543T>G | |
2 | g.55680859A>G | CA426175443 | PNPT1 | c.513T>C (p.Asn171=) c.*161T>C (n.*161T>C) c.273T>C (p.Asn91=) n.543T>C | gnomAD v4 |
2 | g.55680859A>T | CA346938852 | PNPT1 | c.513T>A (p.Asn171Lys) c.*161T>A (n.*161T>A) c.273T>A (p.Asn91Lys) n.543T>A | |
2 | g.55680860T>A | CA346938853 | PNPT1 | c.512A>T (p.Asn171Ile) c.*160A>T (n.*160A>T) c.272A>T (p.Asn91Ile) n.542A>T | |
2 | g.55680860T>C | CA346938854 | PNPT1 | c.512A>G (p.Asn171Ser) c.*160A>G (n.*160A>G) c.272A>G (p.Asn91Ser) n.542A>G | gnomAD v4 |
2 | g.55680860T>G | CA346938855 | PNPT1 | c.512A>C (p.Asn171Thr) c.*160A>C (n.*160A>C) c.272A>C (p.Asn91Thr) n.542A>C | |
2 | g.55680861T>A | CA346938858 | PNPT1 | c.511A>T (p.Asn171Tyr) c.*159A>T (n.*159A>T) c.271A>T (p.Asn91Tyr) n.541A>T | |
2 | g.55680861T>C | CA346938857 | PNPT1 | c.511A>G (p.Asn171Asp) c.*159A>G (n.*159A>G) c.271A>G (p.Asn91Asp) n.541A>G | |
2 | g.55680861T>G | CA346938856 | PNPT1 | c.511A>C (p.Asn171His) c.*159A>C (n.*159A>C) c.271A>C (p.Asn91His) n.541A>C | |
2 | g.55680862A>C | CA346938859 | PNPT1 | c.510T>G (p.Ile170Met) c.*158T>G (n.*158T>G) c.270T>G (p.Ile90Met) n.540T>G | gnomAD v4 |
2 | g.55680862A>G | CA426175444 | PNPT1 | c.510T>C (p.Ile170=) c.*158T>C (n.*158T>C) c.270T>C (p.Ile90=) n.540T>C | |
2 | g.55680862A>T | CA426175445 | PNPT1 | c.510T>A (p.Ile170=) c.*158T>A (n.*158T>A) c.270T>A (p.Ile90=) n.540T>A | |
2 | g.55680863A>C | CA346938860 | PNPT1 | c.509T>G (p.Ile170Ser) c.*157T>G (n.*157T>G) c.269T>G (p.Ile90Ser) n.539T>G | |
2 | g.55680863A>G | CA346938861 | PNPT1 | c.509T>C (p.Ile170Thr) c.*157T>C (n.*157T>C) c.269T>C (p.Ile90Thr) n.539T>C | |
2 | g.55680863A>T | CA346938862 | PNPT1 | c.509T>A (p.Ile170Asn) c.*157T>A (n.*157T>A) c.269T>A (p.Ile90Asn) n.539T>A | |
2 | g.55680864T>A | CA1668445 | PNPT1 | c.508A>T (p.Ile170Phe) c.*156A>T (n.*156A>T) c.268A>T (p.Ile90Phe) n.538A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.55680864T>C | CA1668446 | PNPT1 | c.508A>G (p.Ile170Val) c.*156A>G (n.*156A>G) c.268A>G (p.Ile90Val) n.538A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.55680864T>G | CA346938863 | PNPT1 | c.508A>C (p.Ile170Leu) c.*156A>C (n.*156A>C) c.268A>C (p.Ile90Leu) n.538A>C | |
2 | g.55680864T= | CA1252405693 | PNPT1 | c.508A= (p.Ile170=) c.*156A= (n.*156A=) c.268A= (p.Ile90=) n.538A= | |
2 | g.55680865T>A | CA426175446 | PNPT1 | c.507A>T (p.Ala169=) c.*155A>T (n.*155A>T) c.267A>T (p.Ala89=) n.537A>T | |
2 | g.55680865T>C | CA426175448 | PNPT1 | c.507A>G (p.Ala169=) c.*155A>G (n.*155A>G) c.267A>G (p.Ala89=) n.537A>G | |
2 | g.55680865T>G | CA426175447 | PNPT1 | c.507A>C (p.Ala169=) c.*155A>C (n.*155A>C) c.267A>C (p.Ala89=) n.537A>C | |
2 | g.55680866G>A | CA346938864 | PNPT1 | c.506C>T (p.Ala169Val) c.*154C>T (n.*154C>T) c.266C>T (p.Ala89Val) n.536C>T | |
2 | g.55680866G>C | CA346938865 | PNPT1 | c.506C>G (p.Ala169Gly) c.*154C>G (n.*154C>G) c.266C>G (p.Ala89Gly) n.536C>G | |
2 | g.55680866G>T | CA346938866 | PNPT1 | c.506C>A (p.Ala169Glu) c.*154C>A (n.*154C>A) c.266C>A (p.Ala89Glu) n.536C>A | |
2 | g.55680867C>A | CA346938867 | PNPT1 | c.505G>T (p.Ala169Ser) c.*153G>T (n.*153G>T) c.265G>T (p.Ala89Ser) n.535G>T | |
2 | g.55680867C>G | CA346938868 | PNPT1 | c.505G>C (p.Ala169Pro) c.*153G>C (n.*153G>C) c.265G>C (p.Ala89Pro) n.535G>C | |
2 | g.55680867C>T | CA346938869 | PNPT1 | c.505G>A (p.Ala169Thr) c.*153G>A (n.*153G>A) c.265G>A (p.Ala89Thr) n.535G>A | |
2 | g.55680868T>A | CA426175451 | PNPT1 | c.504A>T (p.Leu168=) c.*152A>T (n.*152A>T) c.264A>T (p.Leu88=) n.534A>T | |
2 | g.55680868T>C | CA426175450 | PNPT1 | c.504A>G (p.Leu168=) c.*152A>G (n.*152A>G) c.264A>G (p.Leu88=) n.534A>G | dbSNP gnomAD v4 |
2 | g.55680868T>G | CA426175449 | PNPT1 | c.504A>C (p.Leu168=) c.*152A>C (n.*152A>C) c.264A>C (p.Leu88=) n.534A>C | |
2 | g.55680869A>C | CA346938872 | PNPT1 | c.503T>G (p.Leu168Arg) c.*151T>G (n.*151T>G) c.263T>G (p.Leu88Arg) n.533T>G | |
2 | g.55680869A>G | CA346938870 | PNPT1 | c.503T>C (p.Leu168Pro) c.*151T>C (n.*151T>C) c.263T>C (p.Leu88Pro) n.533T>C | COSMIC |
2 | g.55680869A>T | CA346938871 | PNPT1 | c.503T>A (p.Leu168Gln) c.*151T>A (n.*151T>A) c.263T>A (p.Leu88Gln) n.533T>A | |
2 | g.55680870G>A | CA426175452 | PNPT1 | c.502C>T (p.Leu168=) c.*150C>T (n.*150C>T) c.262C>T (p.Leu88=) n.532C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.55680870G>C | CA346938873 | PNPT1 | c.502C>G (p.Leu168Val) c.*150C>G (n.*150C>G) c.262C>G (p.Leu88Val) n.532C>G | |
2 | g.55680870G= | CA1252405694 | PNPT1 | c.502C= (p.Leu168=) c.*150C= (n.*150C=) c.262C= (p.Leu88=) n.532C= | |
2 | g.55680870G>T | CA346938874 | PNPT1 | c.502C>A (p.Leu168Ile) c.*150C>A (n.*150C>A) c.262C>A (p.Leu88Ile) n.532C>A | |
2 | g.55680871G>A | CA426175453 | PNPT1 | c.501C>T (p.Val167=) c.*149C>T (n.*149C>T) c.261C>T (p.Val87=) n.531C>T | |
2 | g.55680871G>C | CA1668447 | PNPT1 | c.501C>G (p.Val167=) c.*149C>G (n.*149C>G) c.261C>G (p.Val87=) n.531C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.55680871G= | CA1252405695 | PNPT1 | c.501C= (p.Val167=) c.*149C= (n.*149C=) c.261C= (p.Val87=) n.531C= | |
2 | g.55680871G>T | CA426175454 | PNPT1 | c.501C>A (p.Val167=) c.*149C>A (n.*149C>A) c.261C>A (p.Val87=) n.531C>A | dbSNP gnomAD v4 |
2 | g.55680872A>C | CA346938875 | PNPT1 | c.500T>G (p.Val167Gly) c.*148T>G (n.*148T>G) c.260T>G (p.Val87Gly) n.530T>G | |
2 | g.55680872A>G | CA346938876 | PNPT1 | c.500T>C (p.Val167Ala) c.*148T>C (n.*148T>C) c.260T>C (p.Val87Ala) n.530T>C | |
2 | g.55680872A>T | CA346938877 | PNPT1 | c.500T>A (p.Val167Asp) c.*148T>A (n.*148T>A) c.260T>A (p.Val87Asp) n.530T>A | |
2 | g.55680873C>A | CA346938878 | PNPT1 | c.499G>T (p.Val167Phe) c.*147G>T (n.*147G>T) c.259G>T (p.Val87Phe) n.529G>T | |
2 | g.55680873C= | CA1252405696 | PNPT1 | c.499G= (p.Val167=) c.*147G= (n.*147G=) c.259G= (p.Val87=) n.529G= | |
2 | g.55680873C>G | CA346938879 | PNPT1 | c.499G>C (p.Val167Leu) c.*147G>C (n.*147G>C) c.259G>C (p.Val87Leu) n.529G>C | |
2 | g.55680873C>T | CA346938880 | PNPT1 | c.499G>A (p.Val167Ile) c.*147G>A (n.*147G>A) c.259G>A (p.Val87Ile) n.529G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.55680874A>C | CA346938881 | PNPT1 | c.498T>G (p.Asp166Glu) c.*146T>G (n.*146T>G) c.258T>G (p.Asp86Glu) n.528T>G | |
2 | g.55680874A>G | CA426175455 | PNPT1 | c.498T>C (p.Asp166=) c.*146T>C (n.*146T>C) c.258T>C (p.Asp86=) n.528T>C | |
2 | g.55680874A>T | CA346938882 | PNPT1 | c.498T>A (p.Asp166Glu) c.*146T>A (n.*146T>A) c.258T>A (p.Asp86Glu) n.528T>A | ClinVar dbSNP |
2 | g.55680875T>A | CA346938885 | PNPT1 | c.497A>T (p.Asp166Val) c.*145A>T (n.*145A>T) c.257A>T (p.Asp86Val) n.527A>T | |
2 | g.55680875T>C | CA346938884 | PNPT1 | c.497A>G (p.Asp166Gly) c.*145A>G (n.*145A>G) c.257A>G (p.Asp86Gly) n.527A>G | |
2 | g.55680875T>G | CA346938883 | PNPT1 | c.497A>C (p.Asp166Ala) c.*145A>C (n.*145A>C) c.257A>C (p.Asp86Ala) n.527A>C | |
2 | g.55680876C>A | CA346938886 | PNPT1 | c.496G>T (p.Asp166Tyr) c.*144G>T (n.*144G>T) c.256G>T (p.Asp86Tyr) n.526G>T | |
2 | g.55680876C>G | CA346938888 | PNPT1 | c.496G>C (p.Asp166His) c.*144G>C (n.*144G>C) c.256G>C (p.Asp86His) n.526G>C | |
2 | g.55680876C>T | CA346938887 | PNPT1 | c.496G>A (p.Asp166Asn) c.*144G>A (n.*144G>A) c.256G>A (p.Asp86Asn) n.526G>A | ClinVar dbSNP |
2 | g.55680877A= | CA1252405697 | PNPT1 | c.495T= (p.Pro165=) c.*143T= (n.*143T=) c.255T= (p.Pro85=) n.525T= | |
2 | g.55680877A>C | CA426175456 | PNPT1 | c.495T>G (p.Pro165=) c.*143T>G (n.*143T>G) c.255T>G (p.Pro85=) n.525T>G | |
2 | g.55680877A>G | CA426175457 | PNPT1 | c.495T>C (p.Pro165=) c.*143T>C (n.*143T>C) c.255T>C (p.Pro85=) n.525T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.55680877A>T | CA426175458 | PNPT1 | c.495T>A (p.Pro165=) c.*143T>A (n.*143T>A) c.255T>A (p.Pro85=) n.525T>A | |
2 | g.55680878G>A | CA346938889 | PNPT1 | c.494C>T (p.Pro165Leu) c.*142C>T (n.*142C>T) c.254C>T (p.Pro85Leu) n.524C>T | |
2 | g.55680878G>C | CA346938891 | PNPT1 | c.494C>G (p.Pro165Arg) c.*142C>G (n.*142C>G) c.254C>G (p.Pro85Arg) n.524C>G | |
2 | g.55680878G>T | CA346938890 | PNPT1 | c.494C>A (p.Pro165His) c.*142C>A (n.*142C>A) c.254C>A (p.Pro85His) n.524C>A | |
2 | g.55680879G>A | CA323570 | PNPT1 | c.493C>T (p.Pro165Ser) c.*141C>T (n.*141C>T) c.253C>T (p.Pro85Ser) n.523C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.55680879G>C | CA346938893 | PNPT1 | c.493C>G (p.Pro165Ala) c.*141C>G (n.*141C>G) c.253C>G (p.Pro85Ala) n.523C>G | |
2 | g.55680879G= | CA1252405698 | PNPT1 | c.493C= (p.Pro165=) c.*141C= (n.*141C=) c.253C= (p.Pro85=) n.523C= | |
2 | g.55680879G>T | CA346938892 | PNPT1 | c.493C>A (p.Pro165Thr) c.*141C>A (n.*141C>A) c.253C>A (p.Pro85Thr) n.523C>A | |
2 | g.55680880C>A | CA346938894 | PNPT1 | c.492G>T (p.Glu164Asp) c.*140G>T (n.*140G>T) c.252G>T (p.Glu84Asp) n.522G>T | |
2 | g.55680880C= | CA1252405699 | PNPT1 | c.492G= (p.Glu164=) c.*140G= (n.*140G=) c.252G= (p.Glu84=) n.522G= | |
2 | g.55680880C>G | CA346938895 | PNPT1 | c.492G>C (p.Glu164Asp) c.*140G>C (n.*140G>C) c.252G>C (p.Glu84Asp) n.522G>C | |
2 | g.55680880C>T | CA1668448 | PNPT1 | c.492G>A (p.Glu164=) c.*140G>A (n.*140G>A) c.252G>A (p.Glu84=) n.522G>A | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
2 | g.55680881T>A | CA346938896 | PNPT1 | c.491A>T (p.Glu164Val) c.*139A>T (n.*139A>T) c.251A>T (p.Glu84Val) n.521A>T | |
2 | g.55680881T>C | CA346938897 | PNPT1 | c.491A>G (p.Glu164Gly) c.*139A>G (n.*139A>G) c.251A>G (p.Glu84Gly) n.521A>G | ClinVar dbSNP gnomAD v4 |
2 | g.55680881T>G | CA346938898 | PNPT1 | c.491A>C (p.Glu164Ala) c.*139A>C (n.*139A>C) c.251A>C (p.Glu84Ala) n.521A>C | |
2 | g.55680881T= | CA1252405700 | PNPT1 | c.491A= (p.Glu164=) c.*139A= (n.*139A=) c.251A= (p.Glu84=) n.521A= | |
2 | g.55680882C>A | CA346938899 | PNPT1 | c.490G>T (p.Glu164Ter) c.*138G>T (n.*138G>T) c.250G>T (p.Glu84Ter) n.520G>T | |
2 | g.55680882C>G | CA346938900 | PNPT1 | c.490G>C (p.Glu164Gln) c.*138G>C (n.*138G>C) c.250G>C (p.Glu84Gln) n.520G>C | |
2 | g.55680882C>T | CA346938901 | PNPT1 | c.490G>A (p.Glu164Lys) c.*138G>A (n.*138G>A) c.250G>A (p.Glu84Lys) n.520G>A | |
2 | g.55680883A>C | CA346938902 | PNPT1 | c.489T>G (p.Asn163Lys) c.*137T>G (n.*137T>G) c.249T>G (p.Asn83Lys) n.519T>G | |
2 | g.55680883A>G | CA426175459 | PNPT1 | c.489T>C (p.Asn163=) c.*137T>C (n.*137T>C) c.249T>C (p.Asn83=) n.519T>C | |
2 | g.55680883A>T | CA346938903 | PNPT1 | c.489T>A (p.Asn163Lys) c.*137T>A (n.*137T>A) c.249T>A (p.Asn83Lys) n.519T>A | |
2 | g.55680884T>A | CA346938904 | PNPT1 | c.488A>T (p.Asn163Ile) c.*136A>T (n.*136A>T) c.248A>T (p.Asn83Ile) n.518A>T | |
2 | g.55680884T>C | CA1668449 | PNPT1 | c.488A>G (p.Asn163Ser) c.*136A>G (n.*136A>G) c.248A>G (p.Asn83Ser) n.518A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.55680884T>G | CA346938905 | PNPT1 | c.488A>C (p.Asn163Thr) c.*136A>C (n.*136A>C) c.248A>C (p.Asn83Thr) n.518A>C | |
2 | g.55680884T= | CA1252405701 | PNPT1 | c.488A= (p.Asn163=) c.*136A= (n.*136A=) c.248A= (p.Asn83=) n.518A= | |
2 | g.55680885T>A | CA346938906 | PNPT1 | c.487A>T (p.Asn163Tyr) c.*135A>T (n.*135A>T) c.247A>T (p.Asn83Tyr) n.517A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.55680885T>C | CA346938908 | PNPT1 | c.487A>G (p.Asn163Asp) c.*135A>G (n.*135A>G) c.247A>G (p.Asn83Asp) n.517A>G | |
2 | g.55680885T>G | CA346938907 | PNPT1 | c.487A>C (p.Asn163His) c.*135A>C (n.*135A>C) c.247A>C (p.Asn83His) n.517A>C | |
2 | g.55680885T= | CA1252405702 | PNPT1 | c.487A= (p.Asn163=) c.*135A= (n.*135A=) c.247A= (p.Asn83=) n.517A= | |
2 | g.55680886T>A | CA426175460 | PNPT1 | c.486A>T (p.Val162=) c.*134A>T (n.*134A>T) c.246A>T (p.Val82=) n.516A>T | |
2 | g.55680886T>C | CA426175462 | PNPT1 | c.486A>G (p.Val162=) c.*134A>G (n.*134A>G) c.246A>G (p.Val82=) n.516A>G | |
2 | g.55680886T>G | CA426175461 | PNPT1 | c.486A>C (p.Val162=) c.*134A>C (n.*134A>C) c.246A>C (p.Val82=) n.516A>C | |
2 | g.55680887A>C | CA346938909 | PNPT1 | c.485T>G (p.Val162Gly) c.*133T>G (n.*133T>G) c.245T>G (p.Val82Gly) n.515T>G | |
2 | g.55680887A>G | CA346938910 | PNPT1 | c.485T>C (p.Val162Ala) c.*133T>C (n.*133T>C) c.245T>C (p.Val82Ala) n.515T>C | |
2 | g.55680887A>T | CA346938911 | PNPT1 | c.485T>A (p.Val162Glu) c.*133T>A (n.*133T>A) c.245T>A (p.Val82Glu) n.515T>A | |
2 | g.55680888C>A | CA346938912 | PNPT1 | c.484G>T (p.Val162Leu) c.*132G>T (n.*132G>T) c.244G>T (p.Val82Leu) n.514G>T | |
2 | g.55680888C= | CA1252405703 | PNPT1 | c.484G= (p.Val162=) c.*132G= (n.*132G=) c.244G= (p.Val82=) n.514G= | |
2 | g.55680888C>G | CA346938913 | PNPT1 | c.484G>C (p.Val162Leu) c.*132G>C (n.*132G>C) c.244G>C (p.Val82Leu) n.514G>C | |
2 | g.55680888C>T | CA346938914 | PNPT1 | c.484G>A (p.Val162Ile) c.*132G>A (n.*132G>A) c.244G>A (p.Val82Ile) n.514G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.55680889A>C | CA426175463 | PNPT1 | c.483T>G (p.Gly161=) c.*131T>G (n.*131T>G) c.243T>G (p.Gly81=) n.513T>G | |
2 | g.55680889A>G | CA426175464 | PNPT1 | c.483T>C (p.Gly161=) c.*131T>C (n.*131T>C) c.243T>C (p.Gly81=) n.513T>C | |
2 | g.55680889A>T | CA426175465 | PNPT1 | c.483T>A (p.Gly161=) c.*131T>A (n.*131T>A) c.243T>A (p.Gly81=) n.513T>A | |
2 | g.55680890C>A | CA1668450 | PNPT1 | c.482G>T (p.Gly161Val) c.*130G>T (n.*130G>T) c.242G>T (p.Gly81Val) n.512G>T | dbSNP ExAC gnomAD v2 |
2 | g.55680890C= | CA1252405704 | PNPT1 | c.482G= (p.Gly161=) c.*130G= (n.*130G=) c.242G= (p.Gly81=) n.512G= | |
2 | g.55680890C>G | CA346938915 | PNPT1 | c.482G>C (p.Gly161Ala) c.*130G>C (n.*130G>C) c.242G>C (p.Gly81Ala) n.512G>C | |
2 | g.55680890C>T | CA346938916 | PNPT1 | c.482G>A (p.Gly161Asp) c.*130G>A (n.*130G>A) c.242G>A (p.Gly81Asp) n.512G>A | |
2 | g.55680891C>A | CA346938918 | PNPT1 | c.481G>T (p.Gly161Cys) c.*129G>T (n.*129G>T) c.241G>T (p.Gly81Cys) n.511G>T | gnomAD v4 |
2 | g.55680891C>G | CA346938919 | PNPT1 | c.481G>C (p.Gly161Arg) c.*129G>C (n.*129G>C) c.241G>C (p.Gly81Arg) n.511G>C | |
2 | g.55680891C>T | CA346938917 | PNPT1 | c.481G>A (p.Gly161Ser) c.*129G>A (n.*129G>A) c.241G>A (p.Gly81Ser) n.511G>A | |
2 | g.55680892A>C | CA346938920 | PNPT1 | c.480T>G (p.Asp160Glu) c.*128T>G (n.*128T>G) c.240T>G (p.Asp80Glu) n.510T>G | |
2 | g.55680892A>G | CA426175466 | PNPT1 | c.480T>C (p.Asp160=) c.*128T>C (n.*128T>C) c.240T>C (p.Asp80=) n.510T>C | |
2 | g.55680892A>T | CA346938921 | PNPT1 | c.480T>A (p.Asp160Glu) c.*128T>A (n.*128T>A) c.240T>A (p.Asp80Glu) n.510T>A | |
2 | g.55680893T>A | CA346938922 | PNPT1 | c.479A>T (p.Asp160Val) c.*127A>T (n.*127A>T) c.239A>T (p.Asp80Val) n.509A>T | |
2 | g.55680893T>C | CA346938923 | PNPT1 | c.479A>G (p.Asp160Gly) c.*127A>G (n.*127A>G) c.239A>G (p.Asp80Gly) n.509A>G | |
2 | g.55680893T>G | CA346938924 | PNPT1 | c.479A>C (p.Asp160Ala) c.*127A>C (n.*127A>C) c.239A>C (p.Asp80Ala) n.509A>C | |
2 | g.55680894C>A | CA346938925 | PNPT1 | c.478G>T (p.Asp160Tyr) c.*126G>T (n.*126G>T) c.238G>T (p.Asp80Tyr) n.508G>T | |
2 | g.55680894C>G | CA346938926 | PNPT1 | c.478G>C (p.Asp160His) c.*126G>C (n.*126G>C) c.238G>C (p.Asp80His) n.508G>C | |
2 | g.55680894C>T | CA346938927 | PNPT1 | c.478G>A (p.Asp160Asn) c.*126G>A (n.*126G>A) c.238G>A (p.Asp80Asn) n.508G>A | |
2 | g.55680895T>A | CA426175467 | PNPT1 | c.477A>T (p.Val159=) c.*125A>T (n.*125A>T) c.237A>T (p.Val79=) n.507A>T | |
2 | g.55680895T>C | CA426175468 | PNPT1 | c.477A>G (p.Val159=) c.*125A>G (n.*125A>G) c.237A>G (p.Val79=) n.507A>G | |
2 | g.55680895T>G | CA426175469 | PNPT1 | c.477A>C (p.Val159=) c.*125A>C (n.*125A>C) c.237A>C (p.Val79=) n.507A>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.55680895T= | CA1252405705 | PNPT1 | c.477A= (p.Val159=) c.*125A= (n.*125A=) c.237A= (p.Val79=) n.507A= | |
2 | g.55680896A= | CA1252405706 | PNPT1 | c.476T= (p.Val159=) c.*124T= (n.*124T=) c.236T= (p.Val79=) n.506T= | |
2 | g.55680896A>C | CA346938928 | PNPT1 | c.476T>G (p.Val159Gly) c.*124T>G (n.*124T>G) c.236T>G (p.Val79Gly) n.506T>G | |
2 | g.55680896A>G | CA1668451 | PNPT1 | c.476T>C (p.Val159Ala) c.*124T>C (n.*124T>C) c.236T>C (p.Val79Ala) n.506T>C | dbSNP ExAC gnomAD v2 |
2 | g.55680896A>T | CA346938929 | PNPT1 | c.476T>A (p.Val159Glu) c.*124T>A (n.*124T>A) c.236T>A (p.Val79Glu) n.506T>A | |
2 | g.55680897C>A | CA346938932 | PNPT1 | c.475G>T (p.Val159Leu) c.*123G>T (n.*123G>T) c.235G>T (p.Val79Leu) n.505G>T | |
2 | g.55680897C>G | CA346938931 | PNPT1 | c.475G>C (p.Val159Leu) c.*123G>C (n.*123G>C) c.235G>C (p.Val79Leu) n.505G>C | ClinVar dbSNP |
2 | g.55680897C>T | CA346938930 | PNPT1 | c.475G>A (p.Val159Ile) c.*123G>A (n.*123G>A) c.235G>A (p.Val79Ile) n.505G>A | gnomAD v4 |
2 | g.55680898T>A | CA426175470 | PNPT1 | c.474A>T (p.Ala158=) c.*122A>T (n.*122A>T) c.234A>T (p.Ala78=) n.504A>T | |
2 | g.55680898T>C | CA426175471 | PNPT1 | c.474A>G (p.Ala158=) c.*122A>G (n.*122A>G) c.234A>G (p.Ala78=) n.504A>G | gnomAD v4 |
2 | g.55680898T>G | CA426175472 | PNPT1 | c.474A>C (p.Ala158=) c.*122A>C (n.*122A>C) c.234A>C (p.Ala78=) n.504A>C | |
2 | g.55680899G>A | CA1668452 | PNPT1 | c.473C>T (p.Ala158Val) c.*121C>T (n.*121C>T) c.233C>T (p.Ala78Val) n.503C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.55680899G>C | CA346938933 | PNPT1 | c.473C>G (p.Ala158Gly) c.*121C>G (n.*121C>G) c.233C>G (p.Ala78Gly) n.503C>G | |
2 | g.55680899G= | CA1252405707 | PNPT1 | c.473C= (p.Ala158=) c.*121C= (n.*121C=) c.233C= (p.Ala78=) n.503C= | |
2 | g.55680899G>T | CA346938934 | PNPT1 | c.473C>A (p.Ala158Glu) c.*121C>A (n.*121C>A) c.233C>A (p.Ala78Glu) n.503C>A | |
2 | g.55680900C>A | CA1668453 | PNPT1 | c.472G>T (p.Ala158Ser) c.*120G>T (n.*120G>T) c.232G>T (p.Ala78Ser) n.502G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.55680900C= | CA1252405708 | PNPT1 | c.472G= (p.Ala158=) c.*120G= (n.*120G=) c.232G= (p.Ala78=) n.502G= | |
2 | g.55680900C>G | CA346938935 | PNPT1 | c.472G>C (p.Ala158Pro) c.*120G>C (n.*120G>C) c.232G>C (p.Ala78Pro) n.502G>C | |
2 | g.55680900C>T | CA346938936 | PNPT1 | c.472G>A (p.Ala158Thr) c.*120G>A (n.*120G>A) c.232G>A (p.Ala78Thr) n.502G>A | |
2 | g.55680901T>A | CA346938937 | PNPT1 | c.471A>T (p.Leu157Phe) c.*119A>T (n.*119A>T) c.231A>T (p.Leu77Phe) n.501A>T | |
2 | g.55680901T>C | CA426175473 | PNPT1 | c.471A>G (p.Leu157=) c.*119A>G (n.*119A>G) c.231A>G (p.Leu77=) n.501A>G | dbSNP |
2 | g.55680901T>G | CA346938938 | PNPT1 | c.471A>C (p.Leu157Phe) c.*119A>C (n.*119A>C) c.231A>C (p.Leu77Phe) n.501A>C | |
2 | g.55680901T= | CA1252405709 | PNPT1 | c.471A= (p.Leu157=) c.*119A= (n.*119A=) c.231A= (p.Leu77=) n.501A= | |
2 | g.55680902A= | CA1252405710 | PNPT1 | c.470T= (p.Leu157=) c.*118T= (n.*118T=) c.230T= (p.Leu77=) n.500T= | |
2 | g.55680902A>C | CA346938939 | PNPT1 | c.470T>G (p.Leu157Ter) c.*118T>G (n.*118T>G) c.230T>G (p.Leu77Ter) n.500T>G | |
2 | g.55680902A>G | CA1668454 | PNPT1 | c.470T>C (p.Leu157Ser) c.*118T>C (n.*118T>C) c.230T>C (p.Leu77Ser) n.500T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.55680902A>T | CA346938940 | PNPT1 | c.470T>A (p.Leu157Ter) c.*118T>A (n.*118T>A) c.230T>A (p.Leu77Ter) n.500T>A | |
2 | g.55680903A>C | CA346938941 | PNPT1 | c.469T>G (p.Leu157Val) c.*117T>G (n.*117T>G) c.229T>G (p.Leu77Val) n.499T>G | |
2 | g.55680903A>G | CA426175474 | PNPT1 | c.469T>C (p.Leu157=) c.*117T>C (n.*117T>C) c.229T>C (p.Leu77=) n.499T>C | |
2 | g.55680903A>T | CA346938942 | PNPT1 | c.469T>A (p.Leu157Ile) c.*117T>A (n.*117T>A) c.229T>A (p.Leu77Ile) n.499T>A | |
2 | g.55680904C>A | CA426175475 | PNPT1 | c.468G>T (p.Leu156=) c.*116G>T (n.*116G>T) c.228G>T (p.Leu76=) n.498G>T | |
2 | g.55680904C= | CA1252405711 | PNPT1 | c.468G= (p.Leu156=) c.*116G= (n.*116G=) c.228G= (p.Leu76=) n.498G= | |
2 | g.55680904C>G | CA426175476 | PNPT1 | c.468G>C (p.Leu156=) c.*116G>C (n.*116G>C) c.228G>C (p.Leu76=) n.498G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.55680904C>T | CA426175477 | PNPT1 | c.468G>A (p.Leu156=) c.*116G>A (n.*116G>A) c.228G>A (p.Leu76=) n.498G>A | dbSNP |
2 | g.55680905A= | CA1252405712 | PNPT1 | c.467T= (p.Leu156=) c.*115T= (n.*115T=) c.227T= (p.Leu76=) n.497T= | |
2 | g.55680905A>C | CA346938943 | PNPT1 | c.467T>G (p.Leu156Arg) c.*115T>G (n.*115T>G) c.227T>G (p.Leu76Arg) n.497T>G | |
2 | g.55680905A>G | CA346938944 | PNPT1 | c.467T>C (p.Leu156Pro) c.*115T>C (n.*115T>C) c.227T>C (p.Leu76Pro) n.497T>C | |
2 | g.55680905A>T | CA1668455 | PNPT1 | c.467T>A (p.Leu156Gln) c.*115T>A (n.*115T>A) c.227T>A (p.Leu76Gln) n.497T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.55680906G>A | CA426175478 | PNPT1 | c.466C>T (p.Leu156=) c.*114C>T (n.*114C>T) c.226C>T (p.Leu76=) n.496C>T | |
2 | g.55680906G>C | CA1668456 | PNPT1 | c.466C>G (p.Leu156Val) c.*114C>G (n.*114C>G) c.226C>G (p.Leu76Val) n.496C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.55680906G= | CA1252405713 | PNPT1 | c.466C= (p.Leu156=) c.*114C= (n.*114C=) c.226C= (p.Leu76=) n.496C= | |
2 | g.55680906G>T | CA346938945 | PNPT1 | c.466C>A (p.Leu156Met) c.*114C>A (n.*114C>A) c.226C>A (p.Leu76Met) n.496C>A | |
2 | g.55680907A>C | CA346938946 | PNPT1 | c.465T>G (p.Asn155Lys) c.*113T>G (n.*113T>G) c.225T>G (p.Asn75Lys) n.495T>G | |
2 | g.55680907A>G | CA426175479 | PNPT1 | c.465T>C (p.Asn155=) c.*113T>C (n.*113T>C) c.225T>C (p.Asn75=) n.495T>C | gnomAD v4 |
2 | g.55680907A>T | CA346938947 | PNPT1 | c.465T>A (p.Asn155Lys) c.*113T>A (n.*113T>A) c.225T>A (p.Asn75Lys) n.495T>A | |
2 | g.55680908T>A | CA346938948 | PNPT1 | c.464A>T (p.Asn155Ile) c.*112A>T (n.*112A>T) c.224A>T (p.Asn75Ile) n.494A>T | |
2 | g.55680908T>C | CA1668457 | PNPT1 | c.464A>G (p.Asn155Ser) c.*112A>G (n.*112A>G) c.224A>G (p.Asn75Ser) n.494A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.55680908T>G | CA346938949 | PNPT1 | c.464A>C (p.Asn155Thr) c.*112A>C (n.*112A>C) c.224A>C (p.Asn75Thr) n.494A>C | |
2 | g.55680908T= | CA1252405714 | PNPT1 | c.464A= (p.Asn155=) c.*112A= (n.*112A=) c.224A= (p.Asn75=) n.494A= | |
2 | g.55680909T>A | CA346938950 | PNPT1 | c.463A>T (p.Asn155Tyr) c.*111A>T (n.*111A>T) c.223A>T (p.Asn75Tyr) n.493A>T | |
2 | g.55680909T>C | CA346938951 | PNPT1 | c.463A>G (p.Asn155Asp) c.*111A>G (n.*111A>G) c.223A>G (p.Asn75Asp) n.493A>G | |
2 | g.55680909T>G | CA346938952 | PNPT1 | c.463A>C (p.Asn155His) c.*111A>C (n.*111A>C) c.223A>C (p.Asn75His) n.493A>C | |
2 | g.55680910A>C | CA346938953 | PNPT1 | c.462T>G (p.Cys154Trp) c.*110T>G (n.*110T>G) c.222T>G (p.Cys74Trp) n.492T>G | |
2 | g.55680910A>G | CA426175480 | PNPT1 | c.462T>C (p.Cys154=) c.*110T>C (n.*110T>C) c.222T>C (p.Cys74=) n.492T>C | |
2 | g.55680910A>T | CA346938954 | PNPT1 | c.462T>A (p.Cys154Ter) c.*110T>A (n.*110T>A) c.222T>A (p.Cys74Ter) n.492T>A | |
2 | g.55680911C>A | CA346938957 | PNPT1 | c.461G>T (p.Cys154Phe) c.*109G>T (n.*109G>T) c.221G>T (p.Cys74Phe) n.491G>T | |
2 | g.55680911C= | CA1252405715 | PNPT1 | c.461G= (p.Cys154=) c.*109G= (n.*109G=) c.221G= (p.Cys74=) n.491G= | |
2 | g.55680911C>G | CA346938956 | PNPT1 | c.461G>C (p.Cys154Ser) c.*109G>C (n.*109G>C) c.221G>C (p.Cys74Ser) n.491G>C | |
2 | g.55680911C>T | CA346938955 | PNPT1 | c.461G>A (p.Cys154Tyr) c.*109G>A (n.*109G>A) c.221G>A (p.Cys74Tyr) n.491G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.55680912A>C | CA346938958 | PNPT1 | c.460T>G (p.Cys154Gly) c.*108T>G (n.*108T>G) c.220T>G (p.Cys74Gly) n.490T>G | |
2 | g.55680912A>G | CA346938959 | PNPT1 | c.460T>C (p.Cys154Arg) c.*108T>C (n.*108T>C) c.220T>C (p.Cys74Arg) n.490T>C | |
2 | g.55680912A>T | CA346938960 | PNPT1 | c.460T>A (p.Cys154Ser) c.*108T>A (n.*108T>A) c.220T>A (p.Cys74Ser) n.490T>A | |
2 | g.55680913C>A | CA426175481 | PNPT1 | c.459G>T (p.Leu153=) c.*107G>T (n.*107G>T) c.219G>T (p.Leu73=) n.489G>T | dbSNP |
2 | g.55680913C= | CA1252405716 | PNPT1 | c.459G= (p.Leu153=) c.*107G= (n.*107G=) c.219G= (p.Leu73=) n.489G= | |
2 | g.55680913C>G | CA426175482 | PNPT1 | c.459G>C (p.Leu153=) c.*107G>C (n.*107G>C) c.219G>C (p.Leu73=) n.489G>C | |
2 | g.55680913C>T | CA426175483 | PNPT1 | c.459G>A (p.Leu153=) c.*107G>A (n.*107G>A) c.219G>A (p.Leu73=) n.489G>A | |
2 | g.55680914A= | CA1252405717 | PNPT1 | c.458T= (p.Leu153=) c.*106T= (n.*106T=) c.218T= (p.Leu73=) n.488T= | |
2 | g.55680914A>C | CA1668458 | PNPT1 | c.458T>G (p.Leu153Arg) c.*106T>G (n.*106T>G) c.218T>G (p.Leu73Arg) n.488T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.55680914A>G | CA346938961 | PNPT1 | c.458T>C (p.Leu153Pro) c.*106T>C (n.*106T>C) c.218T>C (p.Leu73Pro) n.488T>C | |
2 | g.55680914A>T | CA346938962 | PNPT1 | c.458T>A (p.Leu153Gln) c.*106T>A (n.*106T>A) c.218T>A (p.Leu73Gln) n.488T>A | |
2 | g.55680915G>A | CA47665084 | PNPT1 | c.457C>T (p.Leu153=) c.*105C>T (n.*105C>T) c.217C>T (p.Leu73=) n.487C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.55680915G>C | CA346938963 | PNPT1 | c.457C>G (p.Leu153Val) c.*105C>G (n.*105C>G) c.217C>G (p.Leu73Val) n.487C>G | |
2 | g.55680915G= | CA1252405718 | PNPT1 | c.457C= (p.Leu153=) c.*105C= (n.*105C=) c.217C= (p.Leu73=) n.487C= | |
2 | g.55680915G>T | CA346938964 | PNPT1 | c.457C>A (p.Leu153Met) c.*105C>A (n.*105C>A) c.217C>A (p.Leu73Met) n.487C>A | |
2 | g.55680916A= | CA1252405719 | PNPT1 | c.456T= (p.Val152=) c.*104T= (n.*104T=) c.216T= (p.Val72=) n.486T= | |
2 | g.55680916A>C | CA426175484 | PNPT1 | c.456T>G (p.Val152=) c.*104T>G (n.*104T>G) c.216T>G (p.Val72=) n.486T>G | |
2 | g.55680916A>G | CA426175485 | PNPT1 | c.456T>C (p.Val152=) c.*104T>C (n.*104T>C) c.216T>C (p.Val72=) n.486T>C | dbSNP |
2 | g.55680916A>T | CA426175486 | PNPT1 | c.456T>A (p.Val152=) c.*104T>A (n.*104T>A) c.216T>A (p.Val72=) n.486T>A | |
2 | g.55680917A>C | CA346938965 | PNPT1 | c.455T>G (p.Val152Gly) c.*103T>G (n.*103T>G) c.215T>G (p.Val72Gly) n.485T>G | |
2 | g.55680917A>G | CA346938966 | PNPT1 | c.455T>C (p.Val152Ala) c.*103T>C (n.*103T>C) c.215T>C (p.Val72Ala) n.485T>C | gnomAD v4 |
2 | g.55680917A>T | CA346938967 | PNPT1 | c.455T>A (p.Val152Asp) c.*103T>A (n.*103T>A) c.215T>A (p.Val72Asp) n.485T>A | |
2 | g.55680918C>A | CA346938969 | PNPT1 | c.454G>T (p.Val152Phe) c.*102G>T (n.*102G>T) c.214G>T (p.Val72Phe) n.484G>T | |
2 | g.55680918C>G | CA346938970 | PNPT1 | c.454G>C (p.Val152Leu) c.*102G>C (n.*102G>C) c.214G>C (p.Val72Leu) n.484G>C | |
2 | g.55680918C>T | CA346938968 | PNPT1 | c.454G>A (p.Val152Ile) c.*102G>A (n.*102G>A) c.214G>A (p.Val72Ile) n.484G>A | ClinVar dbSNP |
2 | g.55680919C>A | CA346938971 | PNPT1 | c.454-1G>T (n.454-1G>T) c.*102-1G>T (n.*102-1G>T) c.214-1G>T (n.214-1G>T) n.484-1G>T | gnomAD v4 COSMIC |
2 | g.55680919C>G | CA346938972 | PNPT1 | c.454-1G>C (n.454-1G>C) c.*102-1G>C (n.*102-1G>C) c.214-1G>C (n.214-1G>C) n.484-1G>C | |
2 | g.55680919C>T | CA346938973 | PNPT1 | c.454-1G>A (n.454-1G>A) c.*102-1G>A (n.*102-1G>A) c.214-1G>A (n.214-1G>A) n.484-1G>A | |
2 | g.55680920T>A | CA346938974 | PNPT1 | c.454-2A>T (n.454-2A>T) c.*102-2A>T (n.*102-2A>T) c.214-2A>T (n.214-2A>T) n.484-2A>T | |
2 | g.55680920T>C | CA346938975 | PNPT1 | c.454-2A>G (n.454-2A>G) c.*102-2A>G (n.*102-2A>G) c.214-2A>G (n.214-2A>G) n.484-2A>G | |
2 | g.55680920T>G | CA346938976 | PNPT1 | c.454-2A>C (n.454-2A>C) c.*102-2A>C (n.*102-2A>C) c.214-2A>C (n.214-2A>C) n.484-2A>C | |
2 | g.55680921_55680922insTGTATCATAGAAGTAGCCAGCT | CA2659134380 | PNPT1 | c.454-4_454-3insAGCTGGCTACTTCTATGATACA (n.454-4_454-3insAGCTGGCTACTTCTATGATACA) c.*102-4_*102-3insAGCTGGCTACTTCTATGATACA (n.*102-4_*102-3insAGCTGGCTACTTCTATGATACA) c.214-4_214-3insAGCTGGCTACTTCTATGATACA (n.214-4_214-3insAGCTGGCTACTTCTATGATACA) n.484-4_484-3insAGCTGGCTACTTCTATGATACA | gnomAD v4 |
2 | g.55680922G>A | CA532797768 | PNPT1 | c.454-4C>T (n.454-4C>T) c.*102-4C>T (n.*102-4C>T) c.214-4C>T (n.214-4C>T) n.484-4C>T | gnomAD v2 |
2 | g.55680922G>C | CA2659134381 | PNPT1 | c.454-4C>G (n.454-4C>G) c.*102-4C>G (n.*102-4C>G) c.214-4C>G (n.214-4C>G) n.484-4C>G | gnomAD v4 |
2 | g.55680922_55680923delinsGT | CA1252405720 | PNPT1 | c.454-5_454-4delinsAC (n.454-5_454-4delinsAC) c.*102-5_*102-4delinsAC (n.*102-5_*102-4delinsAC) c.214-5_214-4delinsAC (n.214-5_214-4delinsAC) n.484-5_484-4delinsAC | |
2 | g.55680923del | CA1668459 | PNPT1 | c.454-5del (n.454-5del) c.*102-5del (n.*102-5del) c.214-5del (n.214-5del) n.484-5del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.55680923T>A | CA532797771 | PNPT1 | c.454-5A>T (n.454-5A>T) c.*102-5A>T (n.*102-5A>T) c.214-5A>T (n.214-5A>T) n.484-5A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.55680923T>C | CA1668460 | PNPT1 | c.454-5A>G (n.454-5A>G) c.*102-5A>G (n.*102-5A>G) c.214-5A>G (n.214-5A>G) n.484-5A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.55680923T= | CA1252405721 | PNPT1 | c.454-5A= (n.454-5A=) c.*102-5A= (n.*102-5A=) c.214-5A= (n.214-5A=) n.484-5A= | |
2 | g.55680924A= | CA1252405722 | PNPT1 | c.454-6T= (n.454-6T=) c.*102-6T= (n.*102-6T=) c.214-6T= (n.214-6T=) n.484-6T= | |
2 | g.55680924A>G | CA532797772 | PNPT1 | c.454-6T>C (n.454-6T>C) c.*102-6T>C (n.*102-6T>C) c.214-6T>C (n.214-6T>C) n.484-6T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.55680927del | CA2659134382 | PNPT1 | c.454-6del (n.454-6del) c.*102-6del (n.*102-6del) c.214-6del (n.214-6del) n.484-6del | gnomAD v4 |
2 | g.55680926A>C | CA2659134383 | PNPT1 | c.454-8T>G (n.454-8T>G) c.*102-8T>G (n.*102-8T>G) c.214-8T>G (n.214-8T>G) n.484-8T>G | gnomAD v4 |
2 | g.55680926A>G | CA2580067482 | PNPT1 | c.454-8T>C (n.454-8T>C) c.*102-8T>C (n.*102-8T>C) c.214-8T>C (n.214-8T>C) n.484-8T>C | ClinVar |
2 | g.55680927A>G | CA2659134384 | PNPT1 | c.454-9T>C (n.454-9T>C) c.*102-9T>C (n.*102-9T>C) c.214-9T>C (n.214-9T>C) n.484-9T>C | gnomAD v4 |
2 | g.55680928G>A | CA426175487 | PNPT1 | c.454-10C>T (n.454-10C>T) c.*102-10C>T (n.*102-10C>T) c.214-10C>T (n.214-10C>T) n.484-10C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.55680928G>C | CA2659134385 | PNPT1 | c.454-10C>G (n.454-10C>G) c.*102-10C>G (n.*102-10C>G) c.214-10C>G (n.214-10C>G) n.484-10C>G | gnomAD v4 |
2 | g.55680928G= | CA1252405723 | PNPT1 | c.454-10C= (n.454-10C=) c.*102-10C= (n.*102-10C=) c.214-10C= (n.214-10C=) n.484-10C= |