Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.101786030_101786035dup | CA682739263 | GNPTAB | c.551_556dup (p.Phe185_Asp186insValPhe) n.345_350dup c.185_190dup (p.Phe63_Asp64insValPhe) c.470_475dup (p.Phe158_Asp159insValPhe) c.335_340dup (p.Phe113_Asp114insValPhe) c.-800_-795dup (n.-800_-795dup) | dbSNP |
12 | g.101786029A>C | CA386304808 | GNPTAB | c.554T>G (p.Phe185Cys) n.348T>G c.188T>G (p.Phe63Cys) c.473T>G (p.Phe158Cys) c.338T>G (p.Phe113Cys) c.-797T>G (n.-797T>G) | |
12 | g.101786029A>G | CA386304810 | GNPTAB | c.554T>C (p.Phe185Ser) n.348T>C c.188T>C (p.Phe63Ser) c.473T>C (p.Phe158Ser) c.338T>C (p.Phe113Ser) c.-797T>C (n.-797T>C) | |
12 | g.101786029A>T | CA386304809 | GNPTAB | c.554T>A (p.Phe185Tyr) n.348T>A c.188T>A (p.Phe63Tyr) c.473T>A (p.Phe158Tyr) c.338T>A (p.Phe113Tyr) c.-797T>A (n.-797T>A) | |
12 | g.101786030A= | CA2058964788 | GNPTAB | c.553T= (p.Phe185=) n.347T= c.187T= (p.Phe63=) c.472T= (p.Phe158=) c.337T= (p.Phe113=) c.-798T= (n.-798T=) | |
12 | g.101786030A>C | CA386304811 | GNPTAB | c.553T>G (p.Phe185Val) n.347T>G c.187T>G (p.Phe63Val) c.472T>G (p.Phe158Val) c.337T>G (p.Phe113Val) c.-798T>G (n.-798T>G) | |
12 | g.101786030A>G | CA386304812 | GNPTAB | c.553T>C (p.Phe185Leu) n.347T>C c.187T>C (p.Phe63Leu) c.472T>C (p.Phe158Leu) c.337T>C (p.Phe113Leu) c.-798T>C (n.-798T>C) | dbSNP COSMIC COSMIC |
12 | g.101786030A>T | CA386304813 | GNPTAB | c.553T>A (p.Phe185Ile) n.347T>A c.187T>A (p.Phe63Ile) c.472T>A (p.Phe158Ile) c.337T>A (p.Phe113Ile) c.-798T>A (n.-798T>A) | |
12 | g.101786030_101786033delinsAAAC | CA2058964787 | GNPTAB | c.550_553delinsGTTT (p.Val184=) n.344_347delinsGTTT c.184_187delinsGTTT (p.Val62=) c.469_472delinsGTTT (p.Val157=) c.334_337delinsGTTT (p.Val112=) c.-801_-798delinsGTTT (n.-801_-798delinsGTTT) | |
12 | g.101786031A>C | CA481326184 | GNPTAB | c.552T>G (p.Val184=) n.346T>G c.186T>G (p.Val62=) c.471T>G (p.Val157=) c.336T>G (p.Val112=) c.-799T>G (n.-799T>G) | |
12 | g.101786031A>G | CA481326182 | GNPTAB | c.552T>C (p.Val184=) n.346T>C c.186T>C (p.Val62=) c.471T>C (p.Val157=) c.336T>C (p.Val112=) c.-799T>C (n.-799T>C) | |
12 | g.101786031A>T | CA481326183 | GNPTAB | c.552T>A (p.Val184=) n.346T>A c.186T>A (p.Val62=) c.471T>A (p.Val157=) c.336T>A (p.Val112=) c.-799T>A (n.-799T>A) | |
12 | g.101786037_101786039del | CA6746860 | GNPTAB | c.550_552del (p.Val184del) n.344_346del c.184_186del (p.Val62del) c.469_471del (p.Val157del) c.334_336del (p.Val112del) c.-801_-799del (n.-801_-799del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101786032A>C | CA386304814 | GNPTAB | c.551T>G (p.Val184Gly) n.345T>G c.185T>G (p.Val62Gly) c.470T>G (p.Val157Gly) c.335T>G (p.Val112Gly) c.-800T>G (n.-800T>G) | |
12 | g.101786032A>G | CA386304815 | GNPTAB | c.551T>C (p.Val184Ala) n.345T>C c.185T>C (p.Val62Ala) c.470T>C (p.Val157Ala) c.335T>C (p.Val112Ala) c.-800T>C (n.-800T>C) | |
12 | g.101786032A>T | CA386304816 | GNPTAB | c.551T>A (p.Val184Asp) n.345T>A c.185T>A (p.Val62Asp) c.470T>A (p.Val157Asp) c.335T>A (p.Val112Asp) c.-800T>A (n.-800T>A) | |
12 | g.101786033C>A | CA386304817 | GNPTAB | c.550G>T (p.Val184Phe) n.344G>T c.184G>T (p.Val62Phe) c.469G>T (p.Val157Phe) c.334G>T (p.Val112Phe) c.-801G>T (n.-801G>T) | |
12 | g.101786033C>G | CA386304818 | GNPTAB | c.550G>C (p.Val184Leu) n.344G>C c.184G>C (p.Val62Leu) c.469G>C (p.Val157Leu) c.334G>C (p.Val112Leu) c.-801G>C (n.-801G>C) | |
12 | g.101786033C>T | CA386304819 | GNPTAB | c.550G>A (p.Val184Ile) n.344G>A c.184G>A (p.Val62Ile) c.469G>A (p.Val157Ile) c.334G>A (p.Val112Ile) c.-801G>A (n.-801G>A) | |
12 | g.101786034A>C | CA481326185 | GNPTAB | c.549T>G (p.Val183=) n.343T>G c.183T>G (p.Val61=) c.468T>G (p.Val156=) c.333T>G (p.Val111=) c.-802T>G (n.-802T>G) | |
12 | g.101786034A>G | CA481326186 | GNPTAB | c.549T>C (p.Val183=) n.343T>C c.183T>C (p.Val61=) c.468T>C (p.Val156=) c.333T>C (p.Val111=) c.-802T>C (n.-802T>C) | |
12 | g.101786034A>T | CA481326187 | GNPTAB | c.549T>A (p.Val183=) n.343T>A c.183T>A (p.Val61=) c.468T>A (p.Val156=) c.333T>A (p.Val111=) c.-802T>A (n.-802T>A) | |
12 | g.101786035A>C | CA386304822 | GNPTAB | c.548T>G (p.Val183Gly) n.342T>G c.182T>G (p.Val61Gly) c.467T>G (p.Val156Gly) c.332T>G (p.Val111Gly) c.-803T>G (n.-803T>G) | |
12 | g.101786035A>G | CA386304821 | GNPTAB | c.548T>C (p.Val183Ala) n.342T>C c.182T>C (p.Val61Ala) c.467T>C (p.Val156Ala) c.332T>C (p.Val111Ala) c.-803T>C (n.-803T>C) | |
12 | g.101786035A>T | CA386304820 | GNPTAB | c.548T>A (p.Val183Asp) n.342T>A c.182T>A (p.Val61Asp) c.467T>A (p.Val156Asp) c.332T>A (p.Val111Asp) c.-803T>A (n.-803T>A) | |
12 | g.101786036C>A | CA386304825 | GNPTAB | c.547G>T (p.Val183Phe) n.341G>T c.181G>T (p.Val61Phe) c.466G>T (p.Val156Phe) c.331G>T (p.Val111Phe) c.-804G>T (n.-804G>T) | |
12 | g.101786036C= | CA2058964789 | GNPTAB | c.547G= (p.Val183=) n.341G= c.181G= (p.Val61=) c.466G= (p.Val156=) c.331G= (p.Val111=) c.-804G= (n.-804G=) | |
12 | g.101786036C>G | CA386304823 | GNPTAB | c.547G>C (p.Val183Leu) n.341G>C c.181G>C (p.Val61Leu) c.466G>C (p.Val156Leu) c.331G>C (p.Val111Leu) c.-804G>C (n.-804G>C) | |
12 | g.101786036C>T | CA386304824 | GNPTAB | c.547G>A (p.Val183Ile) n.341G>A c.181G>A (p.Val61Ile) c.466G>A (p.Val156Ile) c.331G>A (p.Val111Ile) c.-804G>A (n.-804G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786037A>C | CA481326189 | GNPTAB | c.546T>G (p.Val182=) n.340T>G c.180T>G (p.Val60=) c.465T>G (p.Val155=) c.330T>G (p.Val110=) c.-805T>G (n.-805T>G) | |
12 | g.101786037A>G | CA481326190 | GNPTAB | c.546T>C (p.Val182=) n.340T>C c.180T>C (p.Val60=) c.465T>C (p.Val155=) c.330T>C (p.Val110=) c.-805T>C (n.-805T>C) | |
12 | g.101786037A>T | CA481326191 | GNPTAB | c.546T>A (p.Val182=) n.340T>A c.180T>A (p.Val60=) c.465T>A (p.Val155=) c.330T>A (p.Val110=) c.-805T>A (n.-805T>A) | |
12 | g.101786038A= | CA2058964790 | GNPTAB | c.545T= (p.Val182=) n.339T= c.179T= (p.Val60=) c.464T= (p.Val155=) c.329T= (p.Val110=) c.-806T= (n.-806T=) | |
12 | g.101786038A>C | CA386304826 | GNPTAB | c.545T>G (p.Val182Gly) n.339T>G c.179T>G (p.Val60Gly) c.464T>G (p.Val155Gly) c.329T>G (p.Val110Gly) c.-806T>G (n.-806T>G) | |
12 | g.101786038A>G | CA386304827 | GNPTAB | c.545T>C (p.Val182Ala) n.339T>C c.179T>C (p.Val60Ala) c.464T>C (p.Val155Ala) c.329T>C (p.Val110Ala) c.-806T>C (n.-806T>C) | |
12 | g.101786038A>T | CA356554 | GNPTAB | c.545T>A (p.Val182Asp) n.339T>A c.179T>A (p.Val60Asp) c.464T>A (p.Val155Asp) c.329T>A (p.Val110Asp) c.-806T>A (n.-806T>A) | dbSNP gnomAD v4 |
12 | g.101786039C>A | CA386304830 | GNPTAB | c.544G>T (p.Val182Phe) n.338G>T c.178G>T (p.Val60Phe) c.463G>T (p.Val155Phe) c.328G>T (p.Val110Phe) c.-807G>T (n.-807G>T) | |
12 | g.101786039C>G | CA386304829 | GNPTAB | c.544G>C (p.Val182Leu) n.338G>C c.178G>C (p.Val60Leu) c.463G>C (p.Val155Leu) c.328G>C (p.Val110Leu) c.-807G>C (n.-807G>C) | |
12 | g.101786039C>T | CA386304828 | GNPTAB | c.544G>A (p.Val182Ile) n.338G>A c.178G>A (p.Val60Ile) c.463G>A (p.Val155Ile) c.328G>A (p.Val110Ile) c.-807G>A (n.-807G>A) | gnomAD v4 |
12 | g.101786040T>A | CA481326194 | GNPTAB | c.543A>T (p.Ser181=) n.337A>T c.177A>T (p.Ser59=) c.462A>T (p.Ser154=) c.327A>T (p.Ser109=) c.-808A>T (n.-808A>T) | ClinVar dbSNP |
12 | g.101786040T>C | CA481326195 | GNPTAB | c.543A>G (p.Ser181=) n.337A>G c.177A>G (p.Ser59=) c.462A>G (p.Ser154=) c.327A>G (p.Ser109=) c.-808A>G (n.-808A>G) | gnomAD v4 |
12 | g.101786040T>G | CA481326196 | GNPTAB | c.543A>C (p.Ser181=) n.337A>C c.177A>C (p.Ser59=) c.462A>C (p.Ser154=) c.327A>C (p.Ser109=) c.-808A>C (n.-808A>C) | ClinVar |
12 | g.101786041G>A | CA6746861 | GNPTAB | c.542C>T (p.Ser181Leu) n.336C>T c.176C>T (p.Ser59Leu) c.461C>T (p.Ser154Leu) c.326C>T (p.Ser109Leu) c.-809C>T (n.-809C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101786041G>C | CA386304831 | GNPTAB | c.542C>G (p.Ser181Ter) n.336C>G c.176C>G (p.Ser59Ter) c.461C>G (p.Ser154Ter) c.326C>G (p.Ser109Ter) c.-809C>G (n.-809C>G) | ClinVar dbSNP |
12 | g.101786041G= | CA2058964791 | GNPTAB | c.542C= (p.Ser181=) n.336C= c.176C= (p.Ser59=) c.461C= (p.Ser154=) c.326C= (p.Ser109=) c.-809C= (n.-809C=) | |
12 | g.101786041G>T | CA386304832 | GNPTAB | c.542C>A (p.Ser181Ter) n.336C>A c.176C>A (p.Ser59Ter) c.461C>A (p.Ser154Ter) c.326C>A (p.Ser109Ter) c.-809C>A (n.-809C>A) | |
12 | g.101786042A= | CA2058964792 | GNPTAB | c.541T= (p.Ser181=) n.335T= c.175T= (p.Ser59=) c.460T= (p.Ser154=) c.325T= (p.Ser109=) c.-810T= (n.-810T=) | |
12 | g.101786042A>C | CA386304833 | GNPTAB | c.541T>G (p.Ser181Ala) n.335T>G c.175T>G (p.Ser59Ala) c.460T>G (p.Ser154Ala) c.325T>G (p.Ser109Ala) c.-810T>G (n.-810T>G) | |
12 | g.101786042A>G | CA386304834 | GNPTAB | c.541T>C (p.Ser181Pro) n.335T>C c.175T>C (p.Ser59Pro) c.460T>C (p.Ser154Pro) c.325T>C (p.Ser109Pro) c.-810T>C (n.-810T>C) | |
12 | g.101786042A>T | CA386304835 | GNPTAB | c.541T>A (p.Ser181Thr) n.335T>A c.175T>A (p.Ser59Thr) c.460T>A (p.Ser154Thr) c.325T>A (p.Ser109Thr) c.-810T>A (n.-810T>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101786043G>A | CA481326198 | GNPTAB | c.540C>T (p.Val180=) n.334C>T c.174C>T (p.Val58=) c.459C>T (p.Val153=) c.324C>T (p.Val108=) c.-811C>T (n.-811C>T) | |
12 | g.101786043G>C | CA481326199 | GNPTAB | c.540C>G (p.Val180=) n.334C>G c.174C>G (p.Val58=) c.459C>G (p.Val153=) c.324C>G (p.Val108=) c.-811C>G (n.-811C>G) | |
12 | g.101786043G>T | CA481326200 | GNPTAB | c.540C>A (p.Val180=) n.334C>A c.174C>A (p.Val58=) c.459C>A (p.Val153=) c.324C>A (p.Val108=) c.-811C>A (n.-811C>A) | |
12 | g.101786044A= | CA2058964793 | GNPTAB | c.539T= (p.Val180=) n.333T= c.173T= (p.Val58=) c.458T= (p.Val153=) c.323T= (p.Val108=) c.-812T= (n.-812T=) | |
12 | g.101786044A>C | CA386304836 | GNPTAB | c.539T>G (p.Val180Gly) n.333T>G c.173T>G (p.Val58Gly) c.458T>G (p.Val153Gly) c.323T>G (p.Val108Gly) c.-812T>G (n.-812T>G) | |
12 | g.101786044A>G | CA242473328 | GNPTAB | c.539T>C (p.Val180Ala) n.333T>C c.173T>C (p.Val58Ala) c.458T>C (p.Val153Ala) c.323T>C (p.Val108Ala) c.-812T>C (n.-812T>C) | dbSNP |
12 | g.101786044A>T | CA386304837 | GNPTAB | c.539T>A (p.Val180Asp) n.333T>A c.173T>A (p.Val58Asp) c.458T>A (p.Val153Asp) c.323T>A (p.Val108Asp) c.-812T>A (n.-812T>A) | |
12 | g.101786045C>A | CA386304838 | GNPTAB | c.538G>T (p.Val180Phe) n.332G>T c.172G>T (p.Val58Phe) c.457G>T (p.Val153Phe) c.322G>T (p.Val108Phe) c.-813G>T (n.-813G>T) | |
12 | g.101786045C>G | CA386304839 | GNPTAB | c.538G>C (p.Val180Leu) n.332G>C c.172G>C (p.Val58Leu) c.457G>C (p.Val153Leu) c.322G>C (p.Val108Leu) c.-813G>C (n.-813G>C) | |
12 | g.101786045C>T | CA386304840 | GNPTAB | c.538G>A (p.Val180Ile) n.332G>A c.172G>A (p.Val58Ile) c.457G>A (p.Val153Ile) c.322G>A (p.Val108Ile) c.-813G>A (n.-813G>A) | |
12 | g.101786046A= | CA2058964794 | GNPTAB | c.537T= (p.Asn179=) n.331T= c.171T= (p.Asn57=) c.456T= (p.Asn152=) c.321T= (p.Asn107=) c.-814T= (n.-814T=) | |
12 | g.101786046A>C | CA386304841 | GNPTAB | c.537T>G (p.Asn179Lys) n.331T>G c.171T>G (p.Asn57Lys) c.456T>G (p.Asn152Lys) c.321T>G (p.Asn107Lys) c.-814T>G (n.-814T>G) | |
12 | g.101786046A>G | CA481326203 | GNPTAB | c.537T>C (p.Asn179=) n.331T>C c.171T>C (p.Asn57=) c.456T>C (p.Asn152=) c.321T>C (p.Asn107=) c.-814T>C (n.-814T>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101786046A>T | CA386304842 | GNPTAB | c.537T>A (p.Asn179Lys) n.331T>A c.171T>A (p.Asn57Lys) c.456T>A (p.Asn152Lys) c.321T>A (p.Asn107Lys) c.-814T>A (n.-814T>A) | |
12 | g.101786047T>A | CA386304843 | GNPTAB | c.536A>T (p.Asn179Ile) n.330A>T c.170A>T (p.Asn57Ile) c.455A>T (p.Asn152Ile) c.320A>T (p.Asn107Ile) c.-815A>T (n.-815A>T) | |
12 | g.101786047T>C | CA386304844 | GNPTAB | c.536A>G (p.Asn179Ser) n.330A>G c.170A>G (p.Asn57Ser) c.455A>G (p.Asn152Ser) c.320A>G (p.Asn107Ser) c.-815A>G (n.-815A>G) | gnomAD v4 |
12 | g.101786047T>G | CA386304845 | GNPTAB | c.536A>C (p.Asn179Thr) n.330A>C c.170A>C (p.Asn57Thr) c.455A>C (p.Asn152Thr) c.320A>C (p.Asn107Thr) c.-815A>C (n.-815A>C) | |
12 | g.101786048del | CA2620445685 | GNPTAB | c.536del (p.Asn179MetfsTer?) n.330del c.170del (p.Asn57MetfsTer?) c.455del (p.Asn152MetfsTer?) c.320del (p.Asn107MetfsTer?) c.-815del (n.-815del) | gnomAD v4 |
12 | g.101786048T>A | CA386304846 | GNPTAB | c.535A>T (p.Asn179Tyr) n.329A>T c.169A>T (p.Asn57Tyr) c.454A>T (p.Asn152Tyr) c.319A>T (p.Asn107Tyr) c.-816A>T (n.-816A>T) | |
12 | g.101786048T>C | CA386304847 | GNPTAB | c.535A>G (p.Asn179Asp) n.329A>G c.169A>G (p.Asn57Asp) c.454A>G (p.Asn152Asp) c.319A>G (p.Asn107Asp) c.-816A>G (n.-816A>G) | |
12 | g.101786048T>G | CA386304848 | GNPTAB | c.535A>C (p.Asn179His) n.329A>C c.169A>C (p.Asn57His) c.454A>C (p.Asn152His) c.319A>C (p.Asn107His) c.-816A>C (n.-816A>C) | gnomAD v4 |
12 | g.101786049G>A | CA481326205 | GNPTAB | c.534C>T (p.Thr178=) n.328C>T c.168C>T (p.Thr56=) c.453C>T (p.Thr151=) c.318C>T (p.Thr106=) c.-817C>T (n.-817C>T) | dbSNP |
12 | g.101786049G>C | CA6746862 | GNPTAB | c.534C>G (p.Thr178=) n.328C>G c.168C>G (p.Thr56=) c.453C>G (p.Thr151=) c.318C>G (p.Thr106=) c.-817C>G (n.-817C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786049G= | CA2058964795 | GNPTAB | c.534C= (p.Thr178=) n.328C= c.168C= (p.Thr56=) c.453C= (p.Thr151=) c.318C= (p.Thr106=) c.-817C= (n.-817C=) | |
12 | g.101786049G>T | CA481326206 | GNPTAB | c.534C>A (p.Thr178=) n.328C>A c.168C>A (p.Thr56=) c.453C>A (p.Thr151=) c.318C>A (p.Thr106=) c.-817C>A (n.-817C>A) | |
12 | g.101786050G>A | CA6746864 | GNPTAB | c.533C>T (p.Thr178Ile) n.327C>T c.167C>T (p.Thr56Ile) c.452C>T (p.Thr151Ile) c.317C>T (p.Thr106Ile) c.-818C>T (n.-818C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101786050G>C | CA6746863 | GNPTAB | c.533C>G (p.Thr178Ser) n.327C>G c.167C>G (p.Thr56Ser) c.452C>G (p.Thr151Ser) c.317C>G (p.Thr106Ser) c.-818C>G (n.-818C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101786050G= | CA2058964796 | GNPTAB | c.533C= (p.Thr178=) n.327C= c.167C= (p.Thr56=) c.452C= (p.Thr151=) c.317C= (p.Thr106=) c.-818C= (n.-818C=) | |
12 | g.101786050G>T | CA386304849 | GNPTAB | c.533C>A (p.Thr178Asn) n.327C>A c.167C>A (p.Thr56Asn) c.452C>A (p.Thr151Asn) c.317C>A (p.Thr106Asn) c.-818C>A (n.-818C>A) | |
12 | g.101786051T>A | CA386304850 | GNPTAB | c.532A>T (p.Thr178Ser) n.326A>T c.166A>T (p.Thr56Ser) c.451A>T (p.Thr151Ser) c.316A>T (p.Thr106Ser) c.-819A>T (n.-819A>T) | |
12 | g.101786051T>C | CA386304852 | GNPTAB | c.532A>G (p.Thr178Ala) n.326A>G c.166A>G (p.Thr56Ala) c.451A>G (p.Thr151Ala) c.316A>G (p.Thr106Ala) c.-819A>G (n.-819A>G) | |
12 | g.101786051T>G | CA386304851 | GNPTAB | c.532A>C (p.Thr178Pro) n.326A>C c.166A>C (p.Thr56Pro) c.451A>C (p.Thr151Pro) c.316A>C (p.Thr106Pro) c.-819A>C (n.-819A>C) | |
12 | g.101786052A>C | CA481326208 | GNPTAB | c.531T>G (p.Ser177=) n.325T>G c.165T>G (p.Ser55=) c.450T>G (p.Ser150=) c.315T>G (p.Ser105=) c.-820T>G (n.-820T>G) | |
12 | g.101786052A>G | CA481326210 | GNPTAB | c.531T>C (p.Ser177=) n.325T>C c.165T>C (p.Ser55=) c.450T>C (p.Ser150=) c.315T>C (p.Ser105=) c.-820T>C (n.-820T>C) | |
12 | g.101786052A>T | CA481326209 | GNPTAB | c.531T>A (p.Ser177=) n.325T>A c.165T>A (p.Ser55=) c.450T>A (p.Ser150=) c.315T>A (p.Ser105=) c.-820T>A (n.-820T>A) | |
12 | g.101786053G>A | CA386304853 | GNPTAB | c.530C>T (p.Ser177Phe) n.324C>T c.164C>T (p.Ser55Phe) c.449C>T (p.Ser150Phe) c.314C>T (p.Ser105Phe) c.-821C>T (n.-821C>T) | |
12 | g.101786053G>C | CA386304854 | GNPTAB | c.530C>G (p.Ser177Cys) n.324C>G c.164C>G (p.Ser55Cys) c.449C>G (p.Ser150Cys) c.314C>G (p.Ser105Cys) c.-821C>G (n.-821C>G) | |
12 | g.101786053G>T | CA386304855 | GNPTAB | c.530C>A (p.Ser177Tyr) n.324C>A c.164C>A (p.Ser55Tyr) c.449C>A (p.Ser150Tyr) c.314C>A (p.Ser105Tyr) c.-821C>A (n.-821C>A) | |
12 | g.101786054A>C | CA386304856 | GNPTAB | c.529T>G (p.Ser177Ala) n.323T>G c.163T>G (p.Ser55Ala) c.448T>G (p.Ser150Ala) c.313T>G (p.Ser105Ala) c.-822T>G (n.-822T>G) | |
12 | g.101786054A>G | CA386304857 | GNPTAB | c.529T>C (p.Ser177Pro) n.323T>C c.163T>C (p.Ser55Pro) c.448T>C (p.Ser150Pro) c.313T>C (p.Ser105Pro) c.-822T>C (n.-822T>C) | gnomAD v4 |
12 | g.101786054A>T | CA386304858 | GNPTAB | c.529T>A (p.Ser177Thr) n.323T>A c.163T>A (p.Ser55Thr) c.448T>A (p.Ser150Thr) c.313T>A (p.Ser105Thr) c.-822T>A (n.-822T>A) | |
12 | g.101786055A>C | CA481326213 | GNPTAB | c.528T>G (p.Pro176=) n.322T>G c.162T>G (p.Pro54=) c.447T>G (p.Pro149=) c.312T>G (p.Pro104=) c.-823T>G (n.-823T>G) | |
12 | g.101786055A>G | CA481326214 | GNPTAB | c.528T>C (p.Pro176=) n.322T>C c.162T>C (p.Pro54=) c.447T>C (p.Pro149=) c.312T>C (p.Pro104=) c.-823T>C (n.-823T>C) | |
12 | g.101786055A>T | CA481326215 | GNPTAB | c.528T>A (p.Pro176=) n.322T>A c.162T>A (p.Pro54=) c.447T>A (p.Pro149=) c.312T>A (p.Pro104=) c.-823T>A (n.-823T>A) | |
12 | g.101786056G>A | CA6746865 | GNPTAB | c.527C>T (p.Pro176Leu) n.321C>T c.161C>T (p.Pro54Leu) c.446C>T (p.Pro149Leu) c.311C>T (p.Pro104Leu) c.-824C>T (n.-824C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786056G>C | CA386304859 | GNPTAB | c.527C>G (p.Pro176Arg) n.321C>G c.161C>G (p.Pro54Arg) c.446C>G (p.Pro149Arg) c.311C>G (p.Pro104Arg) c.-824C>G (n.-824C>G) | ClinVar dbSNP gnomAD v4 |
12 | g.101786056G= | CA2058964797 | GNPTAB | c.527C= (p.Pro176=) n.321C= c.161C= (p.Pro54=) c.446C= (p.Pro149=) c.311C= (p.Pro104=) c.-824C= (n.-824C=) | |
12 | g.101786056G>T | CA386304860 | GNPTAB | c.527C>A (p.Pro176His) n.321C>A c.161C>A (p.Pro54His) c.446C>A (p.Pro149His) c.311C>A (p.Pro104His) c.-824C>A (n.-824C>A) | |
12 | g.101786057G>A | CA386304861 | GNPTAB | c.526C>T (p.Pro176Ser) n.320C>T c.160C>T (p.Pro54Ser) c.445C>T (p.Pro149Ser) c.310C>T (p.Pro104Ser) c.-825C>T (n.-825C>T) | COSMIC COSMIC |
12 | g.101786057G>C | CA386304862 | GNPTAB | c.526C>G (p.Pro176Ala) n.320C>G c.160C>G (p.Pro54Ala) c.445C>G (p.Pro149Ala) c.310C>G (p.Pro104Ala) c.-825C>G (n.-825C>G) | |
12 | g.101786057G>T | CA386304863 | GNPTAB | c.526C>A (p.Pro176Thr) n.320C>A c.160C>A (p.Pro54Thr) c.445C>A (p.Pro149Thr) c.310C>A (p.Pro104Thr) c.-825C>A (n.-825C>A) | |
12 | g.101786058G>A | CA481326219 | GNPTAB | c.525C>T (p.Asn175=) n.319C>T c.159C>T (p.Asn53=) c.444C>T (p.Asn148=) c.309C>T (p.Asn103=) c.-826C>T (n.-826C>T) | ClinVar dbSNP gnomAD v4 |
12 | g.101786058G>C | CA386304864 | GNPTAB | c.525C>G (p.Asn175Lys) n.319C>G c.159C>G (p.Asn53Lys) c.444C>G (p.Asn148Lys) c.309C>G (p.Asn103Lys) c.-826C>G (n.-826C>G) | |
12 | g.101786058G= | CA2058964798 | GNPTAB | c.525C= (p.Asn175=) n.319C= c.159C= (p.Asn53=) c.444C= (p.Asn148=) c.309C= (p.Asn103=) c.-826C= (n.-826C=) | |
12 | g.101786058G>T | CA386304865 | GNPTAB | c.525C>A (p.Asn175Lys) n.319C>A c.159C>A (p.Asn53Lys) c.444C>A (p.Asn148Lys) c.309C>A (p.Asn103Lys) c.-826C>A (n.-826C>A) | |
12 | g.101786059T>A | CA386304866 | GNPTAB | c.524A>T (p.Asn175Ile) n.318A>T c.158A>T (p.Asn53Ile) c.443A>T (p.Asn148Ile) c.308A>T (p.Asn103Ile) c.-827A>T (n.-827A>T) | |
12 | g.101786059T>C | CA386304867 | GNPTAB | c.524A>G (p.Asn175Ser) n.318A>G c.158A>G (p.Asn53Ser) c.443A>G (p.Asn148Ser) c.308A>G (p.Asn103Ser) c.-827A>G (n.-827A>G) | |
12 | g.101786059T>G | CA386304868 | GNPTAB | c.524A>C (p.Asn175Thr) n.318A>C c.158A>C (p.Asn53Thr) c.443A>C (p.Asn148Thr) c.308A>C (p.Asn103Thr) c.-827A>C (n.-827A>C) | |
12 | g.101786059_101786060delinsC | CA2695217347 | GNPTAB | c.523_524delinsG (p.Asn175AlafsTer?) n.317_318delinsG c.157_158delinsG (p.Asn53AlafsTer?) c.442_443delinsG (p.Asn148AlafsTer?) c.307_308delinsG (p.Asn103AlafsTer?) c.-828_-827delinsG (n.-828_-827delinsG) | |
12 | g.101786064dup | CA607598039 | GNPTAB | c.524dup (p.Asn175LysfsTer12) n.318dup c.158dup (p.Asn53LysfsTer12) c.443dup (p.Asn148LysfsTer12) c.308dup (p.Asn103LysfsTer12) c.-827dup (n.-827dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.101786059_101786076delinsTTTTTTGGTTTTGCAACA | CA2058964799 | GNPTAB | c.507_524delinsTGTTGCAAAACCAAAAAA (p.Asn169=) n.301_318delinsTGTTGCAAAACCAAAAAA c.141_158delinsTGTTGCAAAACCAAAAAA (p.Asn47=) c.426_443delinsTGTTGCAAAACCAAAAAA (p.Asn142=) c.291_308delinsTGTTGCAAAACCAAAAAA (p.Asn97=) c.-844_-827delinsTGTTGCAAAACCAAAAAA (n.-844_-827delinsTGTTGCAAAACCAAAAAA) | |
12 | g.101786060T>A | CA386304869 | GNPTAB | c.523A>T (p.Asn175Tyr) n.317A>T c.157A>T (p.Asn53Tyr) c.442A>T (p.Asn148Tyr) c.307A>T (p.Asn103Tyr) c.-828A>T (n.-828A>T) | gnomAD v4 |
12 | g.101786060T>C | CA386304870 | GNPTAB | c.523A>G (p.Asn175Asp) n.317A>G c.157A>G (p.Asn53Asp) c.442A>G (p.Asn148Asp) c.307A>G (p.Asn103Asp) c.-828A>G (n.-828A>G) | |
12 | g.101786060T>G | CA386304871 | GNPTAB | c.523A>C (p.Asn175His) n.317A>C c.157A>C (p.Asn53His) c.442A>C (p.Asn148His) c.307A>C (p.Asn103His) c.-828A>C (n.-828A>C) | |
12 | g.101786062_101786078del | CA607598040 | GNPTAB | c.507_523del (p.Asn169LysfsTer12) n.301_317del c.141_157del (p.Asn47LysfsTer12) c.426_442del (p.Asn142LysfsTer12) c.291_307del (p.Asn97LysfsTer12) c.-844_-828del (n.-844_-828del) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101786061T>A | CA386304872 | GNPTAB | c.522A>T (p.Lys174Asn) n.316A>T c.156A>T (p.Lys52Asn) c.441A>T (p.Lys147Asn) c.306A>T (p.Lys102Asn) c.-829A>T (n.-829A>T) | |
12 | g.101786061T>C | CA481326222 | GNPTAB | c.522A>G (p.Lys174=) n.316A>G c.156A>G (p.Lys52=) c.441A>G (p.Lys147=) c.306A>G (p.Lys102=) c.-829A>G (n.-829A>G) | |
12 | g.101786061T>G | CA386304873 | GNPTAB | c.522A>C (p.Lys174Asn) n.316A>C c.156A>C (p.Lys52Asn) c.441A>C (p.Lys147Asn) c.306A>C (p.Lys102Asn) c.-829A>C (n.-829A>C) | |
12 | g.101786062T>A | CA386304874 | GNPTAB | c.521A>T (p.Lys174Ile) n.315A>T c.155A>T (p.Lys52Ile) c.440A>T (p.Lys147Ile) c.305A>T (p.Lys102Ile) c.-830A>T (n.-830A>T) | |
12 | g.101786062T>C | CA6746866 | GNPTAB | c.521A>G (p.Lys174Arg) n.315A>G c.155A>G (p.Lys52Arg) c.440A>G (p.Lys147Arg) c.305A>G (p.Lys102Arg) c.-830A>G (n.-830A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101786062T>G | CA386304875 | GNPTAB | c.521A>C (p.Lys174Thr) n.315A>C c.155A>C (p.Lys52Thr) c.440A>C (p.Lys147Thr) c.305A>C (p.Lys102Thr) c.-830A>C (n.-830A>C) | |
12 | g.101786062T= | CA2058964800 | GNPTAB | c.521A= (p.Lys174=) n.315A= c.155A= (p.Lys52=) c.440A= (p.Lys147=) c.305A= (p.Lys102=) c.-830A= (n.-830A=) | |
12 | g.101786063T>A | CA386304877 | GNPTAB | c.520A>T (p.Lys174Ter) n.314A>T c.154A>T (p.Lys52Ter) c.439A>T (p.Lys147Ter) c.304A>T (p.Lys102Ter) c.-831A>T (n.-831A>T) | |
12 | g.101786063T>C | CA386304878 | GNPTAB | c.520A>G (p.Lys174Glu) n.314A>G c.154A>G (p.Lys52Glu) c.439A>G (p.Lys147Glu) c.304A>G (p.Lys102Glu) c.-831A>G (n.-831A>G) | |
12 | g.101786063T>G | CA386304876 | GNPTAB | c.520A>C (p.Lys174Gln) n.314A>C c.154A>C (p.Lys52Gln) c.439A>C (p.Lys147Gln) c.304A>C (p.Lys102Gln) c.-831A>C (n.-831A>C) | |
12 | g.101786064T>A | CA481326224 | GNPTAB | c.519A>T (p.Pro173=) n.313A>T c.153A>T (p.Pro51=) c.438A>T (p.Pro146=) c.303A>T (p.Pro101=) c.-832A>T (n.-832A>T) | |
12 | g.101786064T>C | CA481326225 | GNPTAB | c.519A>G (p.Pro173=) n.313A>G c.153A>G (p.Pro51=) c.438A>G (p.Pro146=) c.303A>G (p.Pro101=) c.-832A>G (n.-832A>G) | |
12 | g.101786064T>G | CA6746867 | GNPTAB | c.519A>C (p.Pro173=) n.313A>C c.153A>C (p.Pro51=) c.438A>C (p.Pro146=) c.303A>C (p.Pro101=) c.-832A>C (n.-832A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101786064T= | CA2058964801 | GNPTAB | c.519A= (p.Pro173=) n.313A= c.153A= (p.Pro51=) c.438A= (p.Pro146=) c.303A= (p.Pro101=) c.-832A= (n.-832A=) | |
12 | g.101786064_101786066delinsTGG | CA2058964802 | GNPTAB | c.517_519delinsCCA (p.Pro173=) n.311_313delinsCCA c.151_153delinsCCA (p.Pro51=) c.436_438delinsCCA (p.Pro146=) c.301_303delinsCCA (p.Pro101=) c.-834_-832delinsCCA (n.-834_-832delinsCCA) | |
12 | g.101786065G>A | CA386304879 | GNPTAB | c.518C>T (p.Pro173Leu) n.312C>T c.152C>T (p.Pro51Leu) c.437C>T (p.Pro146Leu) c.302C>T (p.Pro101Leu) c.-833C>T (n.-833C>T) | |
12 | g.101786065G>C | CA386304880 | GNPTAB | c.518C>G (p.Pro173Arg) n.312C>G c.152C>G (p.Pro51Arg) c.437C>G (p.Pro146Arg) c.302C>G (p.Pro101Arg) c.-833C>G (n.-833C>G) | |
12 | g.101786065G= | CA2058964803 | GNPTAB | c.518C= (p.Pro173=) n.312C= c.152C= (p.Pro51=) c.437C= (p.Pro146=) c.302C= (p.Pro101=) c.-833C= (n.-833C=) | |
12 | g.101786065G>T | CA386304881 | GNPTAB | c.518C>A (p.Pro173Gln) n.312C>A c.152C>A (p.Pro51Gln) c.437C>A (p.Pro146Gln) c.302C>A (p.Pro101Gln) c.-833C>A (n.-833C>A) | |
12 | g.101786065_101786066del | CA607598041 | GNPTAB | c.517_518del (p.Pro173LysfsTer13) n.311_312del c.151_152del (p.Pro51LysfsTer13) c.436_437del (p.Pro146LysfsTer13) c.301_302del (p.Pro101LysfsTer13) c.-834_-833del (n.-834_-833del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786065_101786066dup | CA682739391 | GNPTAB | c.517_518dup (p.Lys174GlnfsTer?) n.311_312dup c.151_152dup (p.Lys52GlnfsTer?) c.436_437dup (p.Lys147GlnfsTer?) c.301_302dup (p.Lys102GlnfsTer?) c.-834_-833dup (n.-834_-833dup) | |
12 | g.101786066del | CA2573147974 | GNPTAB | c.518del (p.Pro173GlnfsTer?) n.312del c.152del (p.Pro51GlnfsTer?) c.437del (p.Pro146GlnfsTer?) c.302del (p.Pro101GlnfsTer?) c.-833del (n.-833del) | ClinVar dbSNP |
12 | g.101786065_101786066insT | CA343409 | GNPTAB | c.517_518insA (p.Pro173HisfsTer14) n.311_312insA c.151_152insA (p.Pro51HisfsTer14) c.436_437insA (p.Pro146HisfsTer14) c.301_302insA (p.Pro101HisfsTer14) c.-834_-833insA (n.-834_-833insA) | ClinVar dbSNP |
12 | g.101786066G>A | CA386304882 | GNPTAB | c.517C>T (p.Pro173Ser) n.311C>T c.151C>T (p.Pro51Ser) c.436C>T (p.Pro146Ser) c.301C>T (p.Pro101Ser) c.-834C>T (n.-834C>T) | |
12 | g.101786066G>C | CA386304883 | GNPTAB | c.517C>G (p.Pro173Ala) n.311C>G c.151C>G (p.Pro51Ala) c.436C>G (p.Pro146Ala) c.301C>G (p.Pro101Ala) c.-834C>G (n.-834C>G) | |
12 | g.101786066G>T | CA386304884 | GNPTAB | c.517C>A (p.Pro173Thr) n.311C>A c.151C>A (p.Pro51Thr) c.436C>A (p.Pro146Thr) c.301C>A (p.Pro101Thr) c.-834C>A (n.-834C>A) | |
12 | g.101786067T>A | CA386304885 | GNPTAB | c.516A>T (p.Lys172Asn) n.310A>T c.150A>T (p.Lys50Asn) c.435A>T (p.Lys145Asn) c.300A>T (p.Lys100Asn) c.-835A>T (n.-835A>T) | |
12 | g.101786067T>C | CA481326227 | GNPTAB | c.516A>G (p.Lys172=) n.310A>G c.150A>G (p.Lys50=) c.435A>G (p.Lys145=) c.300A>G (p.Lys100=) c.-835A>G (n.-835A>G) | ClinVar gnomAD v4 |
12 | g.101786067T>G | CA386304886 | GNPTAB | c.516A>C (p.Lys172Asn) n.310A>C c.150A>C (p.Lys50Asn) c.435A>C (p.Lys145Asn) c.300A>C (p.Lys100Asn) c.-835A>C (n.-835A>C) | |
12 | g.101786070dup | CA2620445720 | GNPTAB | c.516dup (p.Pro173ThrfsTer14) n.310dup c.150dup (p.Pro51ThrfsTer14) c.435dup (p.Pro146ThrfsTer14) c.300dup (p.Pro101ThrfsTer14) c.-835dup (n.-835dup) | gnomAD v4 |
12 | g.101786068T>A | CA386304887 | GNPTAB | c.515A>T (p.Lys172Ile) n.309A>T c.149A>T (p.Lys50Ile) c.434A>T (p.Lys145Ile) c.299A>T (p.Lys100Ile) c.-836A>T (n.-836A>T) | |
12 | g.101786068T>C | CA386304888 | GNPTAB | c.515A>G (p.Lys172Arg) n.309A>G c.149A>G (p.Lys50Arg) c.434A>G (p.Lys145Arg) c.299A>G (p.Lys100Arg) c.-836A>G (n.-836A>G) | |
12 | g.101786068T>G | CA386304889 | GNPTAB | c.515A>C (p.Lys172Thr) n.309A>C c.149A>C (p.Lys50Thr) c.434A>C (p.Lys145Thr) c.299A>C (p.Lys100Thr) c.-836A>C (n.-836A>C) | |
12 | g.101786069T>A | CA386304892 | GNPTAB | c.514A>T (p.Lys172Ter) n.308A>T c.148A>T (p.Lys50Ter) c.433A>T (p.Lys145Ter) c.298A>T (p.Lys100Ter) c.-837A>T (n.-837A>T) | |
12 | g.101786069T>C | CA386304891 | GNPTAB | c.514A>G (p.Lys172Glu) n.308A>G c.148A>G (p.Lys50Glu) c.433A>G (p.Lys145Glu) c.298A>G (p.Lys100Glu) c.-837A>G (n.-837A>G) | |
12 | g.101786069T>G | CA386304890 | GNPTAB | c.514A>C (p.Lys172Gln) n.308A>C c.148A>C (p.Lys50Gln) c.433A>C (p.Lys145Gln) c.298A>C (p.Lys100Gln) c.-837A>C (n.-837A>C) | |
12 | g.101786070T>A | CA481326231 | GNPTAB | c.513A>T (p.Ala171=) n.307A>T c.147A>T (p.Ala49=) c.432A>T (p.Ala144=) c.297A>T (p.Ala99=) c.-838A>T (n.-838A>T) | |
12 | g.101786070T>C | CA6746868 | GNPTAB | c.513A>G (p.Ala171=) n.307A>G c.147A>G (p.Ala49=) c.432A>G (p.Ala144=) c.297A>G (p.Ala99=) c.-838A>G (n.-838A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786070T>G | CA481326234 | GNPTAB | c.513A>C (p.Ala171=) n.307A>C c.147A>C (p.Ala49=) c.432A>C (p.Ala144=) c.297A>C (p.Ala99=) c.-838A>C (n.-838A>C) | |
12 | g.101786070T= | CA2058964805 | GNPTAB | c.513A= (p.Ala171=) n.307A= c.147A= (p.Ala49=) c.432A= (p.Ala144=) c.297A= (p.Ala99=) c.-838A= (n.-838A=) | |
12 | g.101786070_101786074delinsTGCAA | CA2058964804 | GNPTAB | c.509_513delinsTTGCA (p.Val170=) n.303_307delinsTTGCA c.143_147delinsTTGCA (p.Val48=) c.428_432delinsTTGCA (p.Val143=) c.293_297delinsTTGCA (p.Val98=) c.-842_-838delinsTTGCA (n.-842_-838delinsTTGCA) | |
12 | g.101786071G>A | CA6746869 | GNPTAB | c.512C>T (p.Ala171Val) n.306C>T c.146C>T (p.Ala49Val) c.431C>T (p.Ala144Val) c.296C>T (p.Ala99Val) c.-839C>T (n.-839C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786071G>C | CA386304893 | GNPTAB | c.512C>G (p.Ala171Gly) n.306C>G c.146C>G (p.Ala49Gly) c.431C>G (p.Ala144Gly) c.296C>G (p.Ala99Gly) c.-839C>G (n.-839C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101786071G= | CA2058964806 | GNPTAB | c.512C= (p.Ala171=) n.306C= c.146C= (p.Ala49=) c.431C= (p.Ala144=) c.296C= (p.Ala99=) c.-839C= (n.-839C=) | |
12 | g.101786071G>T | CA386304894 | GNPTAB | c.512C>A (p.Ala171Glu) n.306C>A c.146C>A (p.Ala49Glu) c.431C>A (p.Ala144Glu) c.296C>A (p.Ala99Glu) c.-839C>A (n.-839C>A) | |
12 | g.101786071_101786074del | CA607598042 | GNPTAB | c.509_512del (p.Val170GlufsTer?) n.303_306del c.143_146del (p.Val48GlufsTer?) c.428_431del (p.Val143GlufsTer?) c.293_296del (p.Val98GlufsTer?) c.-842_-839del (n.-842_-839del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786072C>A | CA386304895 | GNPTAB | c.511G>T (p.Ala171Ser) n.305G>T c.145G>T (p.Ala49Ser) c.430G>T (p.Ala144Ser) c.295G>T (p.Ala99Ser) c.-840G>T (n.-840G>T) | |
12 | g.101786072C>G | CA386304896 | GNPTAB | c.511G>C (p.Ala171Pro) n.305G>C c.145G>C (p.Ala49Pro) c.430G>C (p.Ala144Pro) c.295G>C (p.Ala99Pro) c.-840G>C (n.-840G>C) | |
12 | g.101786072C>T | CA386304897 | GNPTAB | c.511G>A (p.Ala171Thr) n.305G>A c.145G>A (p.Ala49Thr) c.430G>A (p.Ala144Thr) c.295G>A (p.Ala99Thr) c.-840G>A (n.-840G>A) | |
12 | g.101786073A>C | CA481326237 | GNPTAB | c.510T>G (p.Val170=) n.304T>G c.144T>G (p.Val48=) c.429T>G (p.Val143=) c.294T>G (p.Val98=) c.-841T>G (n.-841T>G) | |
12 | g.101786073A>G | CA481326239 | GNPTAB | c.510T>C (p.Val170=) n.304T>C c.144T>C (p.Val48=) c.429T>C (p.Val143=) c.294T>C (p.Val98=) c.-841T>C (n.-841T>C) | gnomAD v4 |
12 | g.101786073A>T | CA481326238 | GNPTAB | c.510T>A (p.Val170=) n.304T>A c.144T>A (p.Val48=) c.429T>A (p.Val143=) c.294T>A (p.Val98=) c.-841T>A (n.-841T>A) | |
12 | g.101786074A= | CA2058964807 | GNPTAB | c.509T= (p.Val170=) n.303T= c.143T= (p.Val48=) c.428T= (p.Val143=) c.293T= (p.Val98=) c.-842T= (n.-842T=) | |
12 | g.101786074A>C | CA386304898 | GNPTAB | c.509T>G (p.Val170Gly) n.303T>G c.143T>G (p.Val48Gly) c.428T>G (p.Val143Gly) c.293T>G (p.Val98Gly) c.-842T>G (n.-842T>G) | |
12 | g.101786074A>G | CA386304899 | GNPTAB | c.509T>C (p.Val170Ala) n.303T>C c.143T>C (p.Val48Ala) c.428T>C (p.Val143Ala) c.293T>C (p.Val98Ala) c.-842T>C (n.-842T>C) | |
12 | g.101786074A>T | CA386304900 | GNPTAB | c.509T>A (p.Val170Asp) n.303T>A c.143T>A (p.Val48Asp) c.428T>A (p.Val143Asp) c.293T>A (p.Val98Asp) c.-842T>A (n.-842T>A) | |
12 | g.101786074_101786075insTTTTTT | CA607598043 | GNPTAB | c.508_509insAAAAAA (p.Val170delinsGluLysIle) n.302_303insAAAAAA c.142_143insAAAAAA (p.Val48delinsGluLysIle) c.427_428insAAAAAA (p.Val143delinsGluLysIle) c.292_293insAAAAAA (p.Val98delinsGluLysIle) c.-843_-842insAAAAAA (n.-843_-842insAAAAAA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786075del | CA2620445733 | GNPTAB | c.508del (p.Val170LeufsTer?) n.302del c.142del (p.Val48LeufsTer?) c.427del (p.Val143LeufsTer?) c.292del (p.Val98LeufsTer?) c.-843del (n.-843del) | gnomAD v4 |
12 | g.101786075C>A | CA386304901 | GNPTAB | c.508G>T (p.Val170Phe) n.302G>T c.142G>T (p.Val48Phe) c.427G>T (p.Val143Phe) c.292G>T (p.Val98Phe) c.-843G>T (n.-843G>T) | |
12 | g.101786075C>G | CA386304902 | GNPTAB | c.508G>C (p.Val170Leu) n.302G>C c.142G>C (p.Val48Leu) c.427G>C (p.Val143Leu) c.292G>C (p.Val98Leu) c.-843G>C (n.-843G>C) | |
12 | g.101786075C>T | CA386304903 | GNPTAB | c.508G>A (p.Val170Ile) n.302G>A c.142G>A (p.Val48Ile) c.427G>A (p.Val143Ile) c.292G>A (p.Val98Ile) c.-843G>A (n.-843G>A) | |
12 | g.101786075_101786076delinsCA | CA2058964808 | GNPTAB | c.507_508delinsTG (p.Asn169=) n.301_302delinsTG c.141_142delinsTG (p.Asn47=) c.426_427delinsTG (p.Asn142=) c.291_292delinsTG (p.Asn97=) c.-844_-843delinsTG (n.-844_-843delinsTG) | |
12 | g.101786076del | CA2058964809 | GNPTAB | c.507del (p.Asn169LysfsTer?) n.301del c.141del (p.Asn47LysfsTer?) c.426del (p.Asn142LysfsTer?) c.291del (p.Asn97LysfsTer?) c.-844del (n.-844del) | dbSNP |
12 | g.101786076A= | CA2058964810 | GNPTAB | c.507T= (p.Asn169=) n.301T= c.141T= (p.Asn47=) c.426T= (p.Asn142=) c.291T= (p.Asn97=) c.-844T= (n.-844T=) | |
12 | g.101786076A>C | CA386304904 | GNPTAB | c.507T>G (p.Asn169Lys) n.301T>G c.141T>G (p.Asn47Lys) c.426T>G (p.Asn142Lys) c.291T>G (p.Asn97Lys) c.-844T>G (n.-844T>G) | gnomAD v4 |
12 | g.101786076A>G | CA481326241 | GNPTAB | c.507T>C (p.Asn169=) n.301T>C c.141T>C (p.Asn47=) c.426T>C (p.Asn142=) c.291T>C (p.Asn97=) c.-844T>C (n.-844T>C) | ClinVar dbSNP |
12 | g.101786076A>T | CA386304905 | GNPTAB | c.507T>A (p.Asn169Lys) n.301T>A c.141T>A (p.Asn47Lys) c.426T>A (p.Asn142Lys) c.291T>A (p.Asn97Lys) c.-844T>A (n.-844T>A) | |
12 | g.101786077T>A | CA386304906 | GNPTAB | c.506A>T (p.Asn169Ile) n.300A>T c.140A>T (p.Asn47Ile) c.425A>T (p.Asn142Ile) c.290A>T (p.Asn97Ile) c.-845A>T (n.-845A>T) | |
12 | g.101786077T>C | CA6746870 | GNPTAB | c.506A>G (p.Asn169Ser) n.300A>G c.140A>G (p.Asn47Ser) c.425A>G (p.Asn142Ser) c.290A>G (p.Asn97Ser) c.-845A>G (n.-845A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.101786077T>G | CA386304907 | GNPTAB | c.506A>C (p.Asn169Thr) n.300A>C c.140A>C (p.Asn47Thr) c.425A>C (p.Asn142Thr) c.290A>C (p.Asn97Thr) c.-845A>C (n.-845A>C) | |
12 | g.101786077T= | CA2058964811 | GNPTAB | c.506A= (p.Asn169=) n.300A= c.140A= (p.Asn47=) c.425A= (p.Asn142=) c.290A= (p.Asn97=) c.-845A= (n.-845A=) | |
12 | g.101786078T>A | CA386304908 | GNPTAB | c.505A>T (p.Asn169Tyr) n.299A>T c.139A>T (p.Asn47Tyr) c.424A>T (p.Asn142Tyr) c.289A>T (p.Asn97Tyr) c.-846A>T (n.-846A>T) | |
12 | g.101786078T>C | CA386304910 | GNPTAB | c.505A>G (p.Asn169Asp) n.299A>G c.139A>G (p.Asn47Asp) c.424A>G (p.Asn142Asp) c.289A>G (p.Asn97Asp) c.-846A>G (n.-846A>G) | |
12 | g.101786078T>G | CA386304909 | GNPTAB | c.505A>C (p.Asn169His) n.299A>C c.139A>C (p.Asn47His) c.424A>C (p.Asn142His) c.289A>C (p.Asn97His) c.-846A>C (n.-846A>C) | |
12 | g.101786079G>A | CA481326243 | GNPTAB | c.504C>T (p.Phe168=) n.298C>T c.138C>T (p.Phe46=) c.423C>T (p.Phe141=) c.288C>T (p.Phe96=) c.-847C>T (n.-847C>T) | |
12 | g.101786079G>C | CA386304911 | GNPTAB | c.504C>G (p.Phe168Leu) n.298C>G c.138C>G (p.Phe46Leu) c.423C>G (p.Phe141Leu) c.288C>G (p.Phe96Leu) c.-847C>G (n.-847C>G) | |
12 | g.101786079G= | CA2058964812 | GNPTAB | c.504C= (p.Phe168=) n.298C= c.138C= (p.Phe46=) c.423C= (p.Phe141=) c.288C= (p.Phe96=) c.-847C= (n.-847C=) | |
12 | g.101786079G>T | CA386304912 | GNPTAB | c.504C>A (p.Phe168Leu) n.298C>A c.138C>A (p.Phe46Leu) c.423C>A (p.Phe141Leu) c.288C>A (p.Phe96Leu) c.-847C>A (n.-847C>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101786080A>C | CA386304913 | GNPTAB | c.503T>G (p.Phe168Cys) n.297T>G c.137T>G (p.Phe46Cys) c.422T>G (p.Phe141Cys) c.287T>G (p.Phe96Cys) c.-848T>G (n.-848T>G) | |
12 | g.101786080A>G | CA386304915 | GNPTAB | c.503T>C (p.Phe168Ser) n.297T>C c.137T>C (p.Phe46Ser) c.422T>C (p.Phe141Ser) c.287T>C (p.Phe96Ser) c.-848T>C (n.-848T>C) | gnomAD v4 |
12 | g.101786080A>T | CA386304914 | GNPTAB | c.503T>A (p.Phe168Tyr) n.297T>A c.137T>A (p.Phe46Tyr) c.422T>A (p.Phe141Tyr) c.287T>A (p.Phe96Tyr) c.-848T>A (n.-848T>A) | |
12 | g.101786081A>C | CA386304916 | GNPTAB | c.502T>G (p.Phe168Val) n.296T>G c.136T>G (p.Phe46Val) c.421T>G (p.Phe141Val) c.286T>G (p.Phe96Val) c.-849T>G (n.-849T>G) | |
12 | g.101786081A>G | CA386304917 | GNPTAB | c.502T>C (p.Phe168Leu) n.296T>C c.136T>C (p.Phe46Leu) c.421T>C (p.Phe141Leu) c.286T>C (p.Phe96Leu) c.-849T>C (n.-849T>C) | |
12 | g.101786081A>T | CA386304918 | GNPTAB | c.502T>A (p.Phe168Ile) n.296T>A c.136T>A (p.Phe46Ile) c.421T>A (p.Phe141Ile) c.286T>A (p.Phe96Ile) c.-849T>A (n.-849T>A) | |
12 | g.101786082A>C | CA386304919 | GNPTAB | c.501T>G (p.Ile167Met) n.295T>G c.135T>G (p.Ile45Met) c.420T>G (p.Ile140Met) c.285T>G (p.Ile95Met) c.-850T>G (n.-850T>G) | |
12 | g.101786082A>G | CA481326244 | GNPTAB | c.501T>C (p.Ile167=) n.295T>C c.135T>C (p.Ile45=) c.420T>C (p.Ile140=) c.285T>C (p.Ile95=) c.-850T>C (n.-850T>C) | |
12 | g.101786082A>T | CA481326246 | GNPTAB | c.501T>A (p.Ile167=) n.295T>A c.135T>A (p.Ile45=) c.420T>A (p.Ile140=) c.285T>A (p.Ile95=) c.-850T>A (n.-850T>A) | |
12 | g.101786083A= | CA2058964813 | GNPTAB | c.500T= (p.Ile167=) n.294T= c.134T= (p.Ile45=) c.419T= (p.Ile140=) c.284T= (p.Ile95=) c.-851T= (n.-851T=) | |
12 | g.101786083A>C | CA386304920 | GNPTAB | c.500T>G (p.Ile167Ser) n.294T>G c.134T>G (p.Ile45Ser) c.419T>G (p.Ile140Ser) c.284T>G (p.Ile95Ser) c.-851T>G (n.-851T>G) | |
12 | g.101786083A>G | CA386304921 | GNPTAB | c.500T>C (p.Ile167Thr) n.294T>C c.134T>C (p.Ile45Thr) c.419T>C (p.Ile140Thr) c.284T>C (p.Ile95Thr) c.-851T>C (n.-851T>C) | |
12 | g.101786083A>T | CA6746871 | GNPTAB | c.500T>A (p.Ile167Asn) n.294T>A c.134T>A (p.Ile45Asn) c.419T>A (p.Ile140Asn) c.284T>A (p.Ile95Asn) c.-851T>A (n.-851T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786084T>A | CA386304922 | GNPTAB | c.499A>T (p.Ile167Phe) n.293A>T c.133A>T (p.Ile45Phe) c.418A>T (p.Ile140Phe) c.283A>T (p.Ile95Phe) c.-852A>T (n.-852A>T) | |
12 | g.101786084T>C | CA386304923 | GNPTAB | c.499A>G (p.Ile167Val) n.293A>G c.133A>G (p.Ile45Val) c.418A>G (p.Ile140Val) c.283A>G (p.Ile95Val) c.-852A>G (n.-852A>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101786084T>G | CA386304924 | GNPTAB | c.499A>C (p.Ile167Leu) n.293A>C c.133A>C (p.Ile45Leu) c.418A>C (p.Ile140Leu) c.283A>C (p.Ile95Leu) c.-852A>C (n.-852A>C) | |
12 | g.101786084T= | CA2058964814 | GNPTAB | c.499A= (p.Ile167=) n.293A= c.133A= (p.Ile45=) c.418A= (p.Ile140=) c.283A= (p.Ile95=) c.-852A= (n.-852A=) | |
12 | g.101786085G>A | CA481326247 | GNPTAB | c.498C>T (p.Asp166=) n.292C>T c.132C>T (p.Asp44=) c.417C>T (p.Asp139=) c.282C>T (p.Asp94=) c.-853C>T (n.-853C>T) | |
12 | g.101786085G>C | CA6746872 | GNPTAB | c.498C>G (p.Asp166Glu) n.292C>G c.132C>G (p.Asp44Glu) c.417C>G (p.Asp139Glu) c.282C>G (p.Asp94Glu) c.-853C>G (n.-853C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786085G= | CA2058964815 | GNPTAB | c.498C= (p.Asp166=) n.292C= c.132C= (p.Asp44=) c.417C= (p.Asp139=) c.282C= (p.Asp94=) c.-853C= (n.-853C=) | |
12 | g.101786085G>T | CA386304925 | GNPTAB | c.498C>A (p.Asp166Glu) n.292C>A c.132C>A (p.Asp44Glu) c.417C>A (p.Asp139Glu) c.282C>A (p.Asp94Glu) c.-853C>A (n.-853C>A) | |
12 | g.101786086T>A | CA386304926 | GNPTAB | c.497A>T (p.Asp166Val) n.291A>T c.131A>T (p.Asp44Val) c.416A>T (p.Asp139Val) c.281A>T (p.Asp94Val) c.-854A>T (n.-854A>T) | |
12 | g.101786086T>C | CA386304927 | GNPTAB | c.497A>G (p.Asp166Gly) n.291A>G c.131A>G (p.Asp44Gly) c.416A>G (p.Asp139Gly) c.281A>G (p.Asp94Gly) c.-854A>G (n.-854A>G) | |
12 | g.101786086T>G | CA386304928 | GNPTAB | c.497A>C (p.Asp166Ala) n.291A>C c.131A>C (p.Asp44Ala) c.416A>C (p.Asp139Ala) c.281A>C (p.Asp94Ala) c.-854A>C (n.-854A>C) | |
12 | g.101786087C>A | CA386304929 | GNPTAB | c.496G>T (p.Asp166Tyr) n.290G>T c.130G>T (p.Asp44Tyr) c.415G>T (p.Asp139Tyr) c.280G>T (p.Asp94Tyr) c.-855G>T (n.-855G>T) | |
12 | g.101786087C= | CA2058964816 | GNPTAB | c.496G= (p.Asp166=) n.290G= c.130G= (p.Asp44=) c.415G= (p.Asp139=) c.280G= (p.Asp94=) c.-855G= (n.-855G=) | |
12 | g.101786087C>G | CA386304930 | GNPTAB | c.496G>C (p.Asp166His) n.290G>C c.130G>C (p.Asp44His) c.415G>C (p.Asp139His) c.280G>C (p.Asp94His) c.-855G>C (n.-855G>C) | dbSNP |
12 | g.101786087C>T | CA386304931 | GNPTAB | c.496G>A (p.Asp166Asn) n.290G>A c.130G>A (p.Asp44Asn) c.415G>A (p.Asp139Asn) c.280G>A (p.Asp94Asn) c.-855G>A (n.-855G>A) | |
12 | g.101786088A>C | CA386304932 | GNPTAB | c.495T>G (p.Ser165Arg) n.289T>G c.129T>G (p.Ser43Arg) c.414T>G (p.Ser138Arg) c.279T>G (p.Ser93Arg) c.-856T>G (n.-856T>G) | |
12 | g.101786088A>G | CA481326249 | GNPTAB | c.495T>C (p.Ser165=) n.289T>C c.129T>C (p.Ser43=) c.414T>C (p.Ser138=) c.279T>C (p.Ser93=) c.-856T>C (n.-856T>C) | |
12 | g.101786088A>T | CA386304933 | GNPTAB | c.495T>A (p.Ser165Arg) n.289T>A c.129T>A (p.Ser43Arg) c.414T>A (p.Ser138Arg) c.279T>A (p.Ser93Arg) c.-856T>A (n.-856T>A) | |
12 | g.101786089C>A | CA386304934 | GNPTAB | c.494G>T (p.Ser165Ile) n.288G>T c.128G>T (p.Ser43Ile) c.413G>T (p.Ser138Ile) c.278G>T (p.Ser93Ile) c.-857G>T (n.-857G>T) | |
12 | g.101786089C= | CA2058964817 | GNPTAB | c.494G= (p.Ser165=) n.288G= c.128G= (p.Ser43=) c.413G= (p.Ser138=) c.278G= (p.Ser93=) c.-857G= (n.-857G=) | |
12 | g.101786089C>G | CA386304935 | GNPTAB | c.494G>C (p.Ser165Thr) n.288G>C c.128G>C (p.Ser43Thr) c.413G>C (p.Ser138Thr) c.278G>C (p.Ser93Thr) c.-857G>C (n.-857G>C) | dbSNP |
12 | g.101786089C>T | CA386304936 | GNPTAB | c.494G>A (p.Ser165Asn) n.288G>A c.128G>A (p.Ser43Asn) c.413G>A (p.Ser138Asn) c.278G>A (p.Ser93Asn) c.-857G>A (n.-857G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101786090T>A | CA386304938 | GNPTAB | c.493A>T (p.Ser165Cys) n.287A>T c.127A>T (p.Ser43Cys) c.412A>T (p.Ser138Cys) c.277A>T (p.Ser93Cys) c.-858A>T (n.-858A>T) | |
12 | g.101786090T>C | CA386304939 | GNPTAB | c.493A>G (p.Ser165Gly) n.287A>G c.127A>G (p.Ser43Gly) c.412A>G (p.Ser138Gly) c.277A>G (p.Ser93Gly) c.-858A>G (n.-858A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786090T>G | CA386304937 | GNPTAB | c.493A>C (p.Ser165Arg) n.287A>C c.127A>C (p.Ser43Arg) c.412A>C (p.Ser138Arg) c.277A>C (p.Ser93Arg) c.-858A>C (n.-858A>C) | |
12 | g.101786090T= | CA2058964818 | GNPTAB | c.493A= (p.Ser165=) n.287A= c.127A= (p.Ser43=) c.412A= (p.Ser138=) c.277A= (p.Ser93=) c.-858A= (n.-858A=) | |
12 | g.101786091G>A | CA481326250 | GNPTAB | c.492C>T (p.Ala164=) n.286C>T c.126C>T (p.Ala42=) c.411C>T (p.Ala137=) c.276C>T (p.Ala92=) c.-859C>T (n.-859C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.101786091G>C | CA481326251 | GNPTAB | c.492C>G (p.Ala164=) n.286C>G c.126C>G (p.Ala42=) c.411C>G (p.Ala137=) c.276C>G (p.Ala92=) c.-859C>G (n.-859C>G) | |
12 | g.101786091G= | CA2058964819 | GNPTAB | c.492C= (p.Ala164=) n.286C= c.126C= (p.Ala42=) c.411C= (p.Ala137=) c.276C= (p.Ala92=) c.-859C= (n.-859C=) | |
12 | g.101786091G>T | CA481326252 | GNPTAB | c.492C>A (p.Ala164=) n.286C>A c.126C>A (p.Ala42=) c.411C>A (p.Ala137=) c.276C>A (p.Ala92=) c.-859C>A (n.-859C>A) | |
12 | g.101786092G>A | CA386304940 | GNPTAB | c.491C>T (p.Ala164Val) n.285C>T c.125C>T (p.Ala42Val) c.410C>T (p.Ala137Val) c.275C>T (p.Ala92Val) c.-860C>T (n.-860C>T) | dbSNP gnomAD v4 |
12 | g.101786092G>C | CA386304941 | GNPTAB | c.491C>G (p.Ala164Gly) n.285C>G c.125C>G (p.Ala42Gly) c.410C>G (p.Ala137Gly) c.275C>G (p.Ala92Gly) c.-860C>G (n.-860C>G) | |
12 | g.101786092G= | CA2058964820 | GNPTAB | c.491C= (p.Ala164=) n.285C= c.125C= (p.Ala42=) c.410C= (p.Ala137=) c.275C= (p.Ala92=) c.-860C= (n.-860C=) | |
12 | g.101786092G>T | CA386304942 | GNPTAB | c.491C>A (p.Ala164Asp) n.285C>A c.125C>A (p.Ala42Asp) c.410C>A (p.Ala137Asp) c.275C>A (p.Ala92Asp) c.-860C>A (n.-860C>A) | |
12 | g.101786093C>A | CA386304943 | GNPTAB | c.490G>T (p.Ala164Ser) n.284G>T c.124G>T (p.Ala42Ser) c.409G>T (p.Ala137Ser) c.274G>T (p.Ala92Ser) c.-861G>T (n.-861G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786093C= | CA2058964821 | GNPTAB | c.490G= (p.Ala164=) n.284G= c.124G= (p.Ala42=) c.409G= (p.Ala137=) c.274G= (p.Ala92=) c.-861G= (n.-861G=) | |
12 | g.101786093C>G | CA386304944 | GNPTAB | c.490G>C (p.Ala164Pro) n.284G>C c.124G>C (p.Ala42Pro) c.409G>C (p.Ala137Pro) c.274G>C (p.Ala92Pro) c.-861G>C (n.-861G>C) | |
12 | g.101786093C>T | CA386304945 | GNPTAB | c.490G>A (p.Ala164Thr) n.284G>A c.124G>A (p.Ala42Thr) c.409G>A (p.Ala137Thr) c.274G>A (p.Ala92Thr) c.-861G>A (n.-861G>A) | dbSNP |
12 | g.101786094A>C | CA481326254 | GNPTAB | c.489T>G (p.Ser163=) n.283T>G c.123T>G (p.Ser41=) c.408T>G (p.Ser136=) c.273T>G (p.Ser91=) c.-862T>G (n.-862T>G) | gnomAD v4 |
12 | g.101786094A>G | CA481326255 | GNPTAB | c.489T>C (p.Ser163=) n.283T>C c.123T>C (p.Ser41=) c.408T>C (p.Ser136=) c.273T>C (p.Ser91=) c.-862T>C (n.-862T>C) | |
12 | g.101786094A>T | CA481326256 | GNPTAB | c.489T>A (p.Ser163=) n.283T>A c.123T>A (p.Ser41=) c.408T>A (p.Ser136=) c.273T>A (p.Ser91=) c.-862T>A (n.-862T>A) | |
12 | g.101786095G>A | CA386304946 | GNPTAB | c.488C>T (p.Ser163Phe) n.282C>T c.122C>T (p.Ser41Phe) c.407C>T (p.Ser136Phe) c.272C>T (p.Ser91Phe) c.-863C>T (n.-863C>T) | |
12 | g.101786095G>C | CA386304947 | GNPTAB | c.488C>G (p.Ser163Cys) n.282C>G c.122C>G (p.Ser41Cys) c.407C>G (p.Ser136Cys) c.272C>G (p.Ser91Cys) c.-863C>G (n.-863C>G) | |
12 | g.101786095G>T | CA386304948 | GNPTAB | c.488C>A (p.Ser163Tyr) n.282C>A c.122C>A (p.Ser41Tyr) c.407C>A (p.Ser136Tyr) c.272C>A (p.Ser91Tyr) c.-863C>A (n.-863C>A) | |
12 | g.101786096A>C | CA386304949 | GNPTAB | c.487T>G (p.Ser163Ala) n.281T>G c.121T>G (p.Ser41Ala) c.406T>G (p.Ser136Ala) c.271T>G (p.Ser91Ala) c.-864T>G (n.-864T>G) | |
12 | g.101786096A>G | CA386304950 | GNPTAB | c.487T>C (p.Ser163Pro) n.281T>C c.121T>C (p.Ser41Pro) c.406T>C (p.Ser136Pro) c.271T>C (p.Ser91Pro) c.-864T>C (n.-864T>C) | |
12 | g.101786096A>T | CA386304951 | GNPTAB | c.487T>A (p.Ser163Thr) n.281T>A c.121T>A (p.Ser41Thr) c.406T>A (p.Ser136Thr) c.271T>A (p.Ser91Thr) c.-864T>A (n.-864T>A) | |
12 | g.101786097A>C | CA386304953 | GNPTAB | c.486T>G (p.His162Gln) n.280T>G c.120T>G (p.His40Gln) c.405T>G (p.His135Gln) c.270T>G (p.His90Gln) c.-865T>G (n.-865T>G) | |
12 | g.101786097A>G | CA481326257 | GNPTAB | c.486T>C (p.His162=) n.280T>C c.120T>C (p.His40=) c.405T>C (p.His135=) c.270T>C (p.His90=) c.-865T>C (n.-865T>C) | |
12 | g.101786097A>T | CA386304952 | GNPTAB | c.486T>A (p.His162Gln) n.280T>A c.120T>A (p.His40Gln) c.405T>A (p.His135Gln) c.270T>A (p.His90Gln) c.-865T>A (n.-865T>A) | |
12 | g.101786098T>A | CA6746873 | GNPTAB | c.485A>T (p.His162Leu) n.279A>T c.119A>T (p.His40Leu) c.404A>T (p.His135Leu) c.269A>T (p.His90Leu) c.-866A>T (n.-866A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101786098T>C | CA386304954 | GNPTAB | c.485A>G (p.His162Arg) n.279A>G c.119A>G (p.His40Arg) c.404A>G (p.His135Arg) c.269A>G (p.His90Arg) c.-866A>G (n.-866A>G) | gnomAD v4 |
12 | g.101786098T>G | CA386304955 | GNPTAB | c.485A>C (p.His162Pro) n.279A>C c.119A>C (p.His40Pro) c.404A>C (p.His135Pro) c.269A>C (p.His90Pro) c.-866A>C (n.-866A>C) | |
12 | g.101786098T= | CA2058964822 | GNPTAB | c.485A= (p.His162=) n.279A= c.119A= (p.His40=) c.404A= (p.His135=) c.269A= (p.His90=) c.-866A= (n.-866A=) | |
12 | g.101786099del | CA2580085646 | GNPTAB | c.484del (p.His162IlefsTer?) n.278del c.118del (p.His40IlefsTer?) c.403del (p.His135IlefsTer?) c.268del (p.His90IlefsTer?) c.-867del (n.-867del) | ClinVar |
12 | g.101786099G>A | CA386304956 | GNPTAB | c.484C>T (p.His162Tyr) n.278C>T c.118C>T (p.His40Tyr) c.403C>T (p.His135Tyr) c.268C>T (p.His90Tyr) c.-867C>T (n.-867C>T) | |
12 | g.101786099G>C | CA386304957 | GNPTAB | c.484C>G (p.His162Asp) n.278C>G c.118C>G (p.His40Asp) c.403C>G (p.His135Asp) c.268C>G (p.His90Asp) c.-867C>G (n.-867C>G) | |
12 | g.101786099G>T | CA386304958 | GNPTAB | c.484C>A (p.His162Asn) n.278C>A c.118C>A (p.His40Asn) c.403C>A (p.His135Asn) c.268C>A (p.His90Asn) c.-867C>A (n.-867C>A) | |
12 | g.101786100A>C | CA386304959 | GNPTAB | c.483T>G (p.Phe161Leu) n.277T>G c.117T>G (p.Phe39Leu) c.402T>G (p.Phe134Leu) c.267T>G (p.Phe89Leu) c.-868T>G (n.-868T>G) | gnomAD v4 |
12 | g.101786100A>G | CA481326258 | GNPTAB | c.483T>C (p.Phe161=) n.277T>C c.117T>C (p.Phe39=) c.402T>C (p.Phe134=) c.267T>C (p.Phe89=) c.-868T>C (n.-868T>C) | |
12 | g.101786100A>T | CA386304960 | GNPTAB | c.483T>A (p.Phe161Leu) n.277T>A c.117T>A (p.Phe39Leu) c.402T>A (p.Phe134Leu) c.267T>A (p.Phe89Leu) c.-868T>A (n.-868T>A) | |
12 | g.101786103del | CA2573332474 | GNPTAB | c.483del (p.His162IlefsTer?) n.277del c.117del (p.His40IlefsTer?) c.402del (p.His135IlefsTer?) c.267del (p.His90IlefsTer?) c.-868del (n.-868del) | |
12 | g.101786101A>C | CA386304961 | GNPTAB | c.482T>G (p.Phe161Cys) n.276T>G c.116T>G (p.Phe39Cys) c.401T>G (p.Phe134Cys) c.266T>G (p.Phe89Cys) c.-869T>G (n.-869T>G) | |
12 | g.101786101A>G | CA386304962 | GNPTAB | c.482T>C (p.Phe161Ser) n.276T>C c.116T>C (p.Phe39Ser) c.401T>C (p.Phe134Ser) c.266T>C (p.Phe89Ser) c.-869T>C (n.-869T>C) | |
12 | g.101786101A>T | CA386304963 | GNPTAB | c.482T>A (p.Phe161Tyr) n.276T>A c.116T>A (p.Phe39Tyr) c.401T>A (p.Phe134Tyr) c.266T>A (p.Phe89Tyr) c.-869T>A (n.-869T>A) | |
12 | g.101786102A>C | CA386304964 | GNPTAB | c.481T>G (p.Phe161Val) n.275T>G c.115T>G (p.Phe39Val) c.400T>G (p.Phe134Val) c.265T>G (p.Phe89Val) c.-870T>G (n.-870T>G) | |
12 | g.101786102A>G | CA386304965 | GNPTAB | c.481T>C (p.Phe161Leu) n.275T>C c.115T>C (p.Phe39Leu) c.400T>C (p.Phe134Leu) c.265T>C (p.Phe89Leu) c.-870T>C (n.-870T>C) | |
12 | g.101786102A>T | CA386304966 | GNPTAB | c.481T>A (p.Phe161Ile) n.275T>A c.115T>A (p.Phe39Ile) c.400T>A (p.Phe134Ile) c.265T>A (p.Phe89Ile) c.-870T>A (n.-870T>A) | |
12 | g.101786103A= | CA2058964823 | GNPTAB | c.480T= (p.Ser160=) n.274T= c.114T= (p.Ser38=) c.399T= (p.Ser133=) c.264T= (p.Ser88=) c.-871T= (n.-871T=) | |
12 | g.101786103A>C | CA481326259 | GNPTAB | c.480T>G (p.Ser160=) n.274T>G c.114T>G (p.Ser38=) c.399T>G (p.Ser133=) c.264T>G (p.Ser88=) c.-871T>G (n.-871T>G) | |
12 | g.101786103A>G | CA481326260 | GNPTAB | c.480T>C (p.Ser160=) n.274T>C c.114T>C (p.Ser38=) c.399T>C (p.Ser133=) c.264T>C (p.Ser88=) c.-871T>C (n.-871T>C) | ClinVar dbSNP gnomAD v4 |
12 | g.101786103A>T | CA481326261 | GNPTAB | c.480T>A (p.Ser160=) n.274T>A c.114T>A (p.Ser38=) c.399T>A (p.Ser133=) c.264T>A (p.Ser88=) c.-871T>A (n.-871T>A) | |
12 | g.101786104G>A | CA386304968 | GNPTAB | c.479C>T (p.Ser160Phe) n.273C>T c.113C>T (p.Ser38Phe) c.398C>T (p.Ser133Phe) c.263C>T (p.Ser88Phe) c.-872C>T (n.-872C>T) | gnomAD v4 |
12 | g.101786104G>C | CA386304969 | GNPTAB | c.479C>G (p.Ser160Cys) n.273C>G c.113C>G (p.Ser38Cys) c.398C>G (p.Ser133Cys) c.263C>G (p.Ser88Cys) c.-872C>G (n.-872C>G) | |
12 | g.101786104G>T | CA386304967 | GNPTAB | c.479C>A (p.Ser160Tyr) n.273C>A c.113C>A (p.Ser38Tyr) c.398C>A (p.Ser133Tyr) c.263C>A (p.Ser88Tyr) c.-872C>A (n.-872C>A) | |
12 | g.101786105A>C | CA386304972 | GNPTAB | c.478T>G (p.Ser160Ala) n.272T>G c.112T>G (p.Ser38Ala) c.397T>G (p.Ser133Ala) c.262T>G (p.Ser88Ala) c.-873T>G (n.-873T>G) | |
12 | g.101786105A>G | CA386304970 | GNPTAB | c.478T>C (p.Ser160Pro) n.272T>C c.112T>C (p.Ser38Pro) c.397T>C (p.Ser133Pro) c.262T>C (p.Ser88Pro) c.-873T>C (n.-873T>C) | |
12 | g.101786105A>T | CA386304971 | GNPTAB | c.478T>A (p.Ser160Thr) n.272T>A c.112T>A (p.Ser38Thr) c.397T>A (p.Ser133Thr) c.262T>A (p.Ser88Thr) c.-873T>A (n.-873T>A) | |
12 | g.101786106A= | CA2058964824 | GNPTAB | c.477T= (p.Pro159=) n.271T= c.111T= (p.Pro37=) c.396T= (p.Pro132=) c.261T= (p.Pro87=) c.-874T= (n.-874T=) | |
12 | g.101786106A>C | CA481326262 | GNPTAB | c.477T>G (p.Pro159=) n.271T>G c.111T>G (p.Pro37=) c.396T>G (p.Pro132=) c.261T>G (p.Pro87=) c.-874T>G (n.-874T>G) | |
12 | g.101786106A>G | CA6746874 | GNPTAB | c.477T>C (p.Pro159=) n.271T>C c.111T>C (p.Pro37=) c.396T>C (p.Pro132=) c.261T>C (p.Pro87=) c.-874T>C (n.-874T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101786106A>T | CA481326263 | GNPTAB | c.477T>A (p.Pro159=) n.271T>A c.111T>A (p.Pro37=) c.396T>A (p.Pro132=) c.261T>A (p.Pro87=) c.-874T>A (n.-874T>A) | gnomAD v4 |
12 | g.101786107G>A | CA386304973 | GNPTAB | c.476C>T (p.Pro159Leu) n.270C>T c.110C>T (p.Pro37Leu) c.395C>T (p.Pro132Leu) c.260C>T (p.Pro87Leu) c.-875C>T (n.-875C>T) | |
12 | g.101786107G>C | CA386304974 | GNPTAB | c.476C>G (p.Pro159Arg) n.270C>G c.110C>G (p.Pro37Arg) c.395C>G (p.Pro132Arg) c.260C>G (p.Pro87Arg) c.-875C>G (n.-875C>G) | |
12 | g.101786107G>T | CA386304975 | GNPTAB | c.476C>A (p.Pro159His) n.270C>A c.110C>A (p.Pro37His) c.395C>A (p.Pro132His) c.260C>A (p.Pro87His) c.-875C>A (n.-875C>A) | |
12 | g.101786108G>A | CA386304976 | GNPTAB | c.475C>T (p.Pro159Ser) n.269C>T c.109C>T (p.Pro37Ser) c.394C>T (p.Pro132Ser) c.259C>T (p.Pro87Ser) c.-876C>T (n.-876C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786108G>C | CA386304977 | GNPTAB | c.475C>G (p.Pro159Ala) n.269C>G c.109C>G (p.Pro37Ala) c.394C>G (p.Pro132Ala) c.259C>G (p.Pro87Ala) c.-876C>G (n.-876C>G) | gnomAD v4 |
12 | g.101786108G= | CA2058964825 | GNPTAB | c.475C= (p.Pro159=) n.269C= c.109C= (p.Pro37=) c.394C= (p.Pro132=) c.259C= (p.Pro87=) c.-876C= (n.-876C=) | |
12 | g.101786108G>T | CA386304978 | GNPTAB | c.475C>A (p.Pro159Thr) n.269C>A c.109C>A (p.Pro37Thr) c.394C>A (p.Pro132Thr) c.259C>A (p.Pro87Thr) c.-876C>A (n.-876C>A) | |
12 | g.101786109A>C | CA386304979 | GNPTAB | c.474T>G (p.Tyr158Ter) n.268T>G c.108T>G (p.Tyr36Ter) c.393T>G (p.Tyr131Ter) c.258T>G (p.Tyr86Ter) c.-877T>G (n.-877T>G) | |
12 | g.101786109A>G | CA481326264 | GNPTAB | c.474T>C (p.Tyr158=) n.268T>C c.108T>C (p.Tyr36=) c.393T>C (p.Tyr131=) c.258T>C (p.Tyr86=) c.-877T>C (n.-877T>C) | |
12 | g.101786109A>T | CA386304980 | GNPTAB | c.474T>A (p.Tyr158Ter) n.268T>A c.108T>A (p.Tyr36Ter) c.393T>A (p.Tyr131Ter) c.258T>A (p.Tyr86Ter) c.-877T>A (n.-877T>A) | |
12 | g.101786110T>A | CA386304982 | GNPTAB | c.473A>T (p.Tyr158Phe) n.267A>T c.107A>T (p.Tyr36Phe) c.392A>T (p.Tyr131Phe) c.257A>T (p.Tyr86Phe) c.-878A>T (n.-878A>T) | |
12 | g.101786110T>C | CA242473379 | GNPTAB | c.473A>G (p.Tyr158Cys) n.267A>G c.107A>G (p.Tyr36Cys) c.392A>G (p.Tyr131Cys) c.257A>G (p.Tyr86Cys) c.-878A>G (n.-878A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786110T>G | CA386304981 | GNPTAB | c.473A>C (p.Tyr158Ser) n.267A>C c.107A>C (p.Tyr36Ser) c.392A>C (p.Tyr131Ser) c.257A>C (p.Tyr86Ser) c.-878A>C (n.-878A>C) | |
12 | g.101786110T= | CA2058964826 | GNPTAB | c.473A= (p.Tyr158=) n.267A= c.107A= (p.Tyr36=) c.392A= (p.Tyr131=) c.257A= (p.Tyr86=) c.-878A= (n.-878A=) | |
12 | g.101786111A>C | CA386304983 | GNPTAB | c.472T>G (p.Tyr158Asp) n.266T>G c.106T>G (p.Tyr36Asp) c.391T>G (p.Tyr131Asp) c.256T>G (p.Tyr86Asp) c.-879T>G (n.-879T>G) | |
12 | g.101786111A>G | CA386304984 | GNPTAB | c.472T>C (p.Tyr158His) n.266T>C c.106T>C (p.Tyr36His) c.391T>C (p.Tyr131His) c.256T>C (p.Tyr86His) c.-879T>C (n.-879T>C) | |
12 | g.101786111A>T | CA386304985 | GNPTAB | c.472T>A (p.Tyr158Asn) n.266T>A c.106T>A (p.Tyr36Asn) c.391T>A (p.Tyr131Asn) c.256T>A (p.Tyr86Asn) c.-879T>A (n.-879T>A) | |
12 | g.101786112_101786113del | CA2695217348 | GNPTAB | c.471_472del (p.Tyr158SerfsTer8) n.265_266del c.105_106del (p.Tyr36SerfsTer8) c.390_391del (p.Tyr131SerfsTer8) c.255_256del (p.Tyr86SerfsTer8) c.-880_-879del (n.-880_-879del) | |
12 | g.101786112A>C | CA481326265 | GNPTAB | c.471T>G (p.Leu157=) n.265T>G c.105T>G (p.Leu35=) c.390T>G (p.Leu130=) c.255T>G (p.Leu85=) c.-880T>G (n.-880T>G) | gnomAD v4 |
12 | g.101786112A>G | CA481326266 | GNPTAB | c.471T>C (p.Leu157=) n.265T>C c.105T>C (p.Leu35=) c.390T>C (p.Leu130=) c.255T>C (p.Leu85=) c.-880T>C (n.-880T>C) | gnomAD v4 |
12 | g.101786112A>T | CA481326267 | GNPTAB | c.471T>A (p.Leu157=) n.265T>A c.105T>A (p.Leu35=) c.390T>A (p.Leu130=) c.255T>A (p.Leu85=) c.-880T>A (n.-880T>A) | |
12 | g.101786113A= | CA2058964827 | GNPTAB | c.470T= (p.Leu157=) n.264T= c.104T= (p.Leu35=) c.389T= (p.Leu130=) c.254T= (p.Leu85=) c.-881T= (n.-881T=) | |
12 | g.101786113A>C | CA386304986 | GNPTAB | c.470T>G (p.Leu157Arg) n.264T>G c.104T>G (p.Leu35Arg) c.389T>G (p.Leu130Arg) c.254T>G (p.Leu85Arg) c.-881T>G (n.-881T>G) | |
12 | g.101786113A>G | CA242473380 | GNPTAB | c.470T>C (p.Leu157Pro) n.264T>C c.104T>C (p.Leu35Pro) c.389T>C (p.Leu130Pro) c.254T>C (p.Leu85Pro) c.-881T>C (n.-881T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101786113A>T | CA386304987 | GNPTAB | c.470T>A (p.Leu157His) n.264T>A c.104T>A (p.Leu35His) c.389T>A (p.Leu130His) c.254T>A (p.Leu85His) c.-881T>A (n.-881T>A) | |
12 | g.101786114G>A | CA386304988 | GNPTAB | c.469C>T (p.Leu157Phe) n.263C>T c.103C>T (p.Leu35Phe) c.388C>T (p.Leu130Phe) c.253C>T (p.Leu85Phe) c.-882C>T (n.-882C>T) | |
12 | g.101786114G>C | CA386304989 | GNPTAB | c.469C>G (p.Leu157Val) n.263C>G c.103C>G (p.Leu35Val) c.388C>G (p.Leu130Val) c.253C>G (p.Leu85Val) c.-882C>G (n.-882C>G) | |
12 | g.101786114G>T | CA386304990 | GNPTAB | c.469C>A (p.Leu157Ile) n.263C>A c.103C>A (p.Leu35Ile) c.388C>A (p.Leu130Ile) c.253C>A (p.Leu85Ile) c.-882C>A (n.-882C>A) | |
12 | g.101786115A= | CA2058964828 | GNPTAB | c.468T= (p.Ser156=) n.262T= c.102T= (p.Ser34=) c.387T= (p.Ser129=) c.252T= (p.Ser84=) c.-883T= (n.-883T=) | |
12 | g.101786115A>C | CA481326268 | GNPTAB | c.468T>G (p.Ser156=) n.262T>G c.102T>G (p.Ser34=) c.387T>G (p.Ser129=) c.252T>G (p.Ser84=) c.-883T>G (n.-883T>G) | |
12 | g.101786115A>G | CA481326269 | GNPTAB | c.468T>C (p.Ser156=) n.262T>C c.102T>C (p.Ser34=) c.387T>C (p.Ser129=) c.252T>C (p.Ser84=) c.-883T>C (n.-883T>C) | |
12 | g.101786115A>T | CA481326270 | GNPTAB | c.468T>A (p.Ser156=) n.262T>A c.102T>A (p.Ser34=) c.387T>A (p.Ser129=) c.252T>A (p.Ser84=) c.-883T>A (n.-883T>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101786116G>A | CA386304991 | GNPTAB | c.467C>T (p.Ser156Phe) n.261C>T c.101C>T (p.Ser34Phe) c.386C>T (p.Ser129Phe) c.251C>T (p.Ser84Phe) c.-884C>T (n.-884C>T) | |
12 | g.101786116G>C | CA386304992 | GNPTAB | c.467C>G (p.Ser156Cys) n.261C>G c.101C>G (p.Ser34Cys) c.386C>G (p.Ser129Cys) c.251C>G (p.Ser84Cys) c.-884C>G (n.-884C>G) | |
12 | g.101786116G>T | CA386304993 | GNPTAB | c.467C>A (p.Ser156Tyr) n.261C>A c.101C>A (p.Ser34Tyr) c.386C>A (p.Ser129Tyr) c.251C>A (p.Ser84Tyr) c.-884C>A (n.-884C>A) | |
12 | g.101786117A= | CA2058964829 | GNPTAB | c.466T= (p.Ser156=) n.260T= c.100T= (p.Ser34=) c.385T= (p.Ser129=) c.250T= (p.Ser84=) c.-885T= (n.-885T=) | |
12 | g.101786117A>C | CA386304995 | GNPTAB | c.466T>G (p.Ser156Ala) n.260T>G c.100T>G (p.Ser34Ala) c.385T>G (p.Ser129Ala) c.250T>G (p.Ser84Ala) c.-885T>G (n.-885T>G) | gnomAD v4 |
12 | g.101786117A>G | CA6746875 | GNPTAB | c.466T>C (p.Ser156Pro) n.260T>C c.100T>C (p.Ser34Pro) c.385T>C (p.Ser129Pro) c.250T>C (p.Ser84Pro) c.-885T>C (n.-885T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101786117A>T | CA386304994 | GNPTAB | c.466T>A (p.Ser156Thr) n.260T>A c.100T>A (p.Ser34Thr) c.385T>A (p.Ser129Thr) c.250T>A (p.Ser84Thr) c.-885T>A (n.-885T>A) | |
12 | g.101786118T>A | CA481326271 | GNPTAB | c.465A>T (p.Pro155=) n.259A>T c.99A>T (p.Pro33=) c.384A>T (p.Pro128=) c.249A>T (p.Pro83=) c.-886A>T (n.-886A>T) | |
12 | g.101786118T>C | CA481326272 | GNPTAB | c.465A>G (p.Pro155=) n.259A>G c.99A>G (p.Pro33=) c.384A>G (p.Pro128=) c.249A>G (p.Pro83=) c.-886A>G (n.-886A>G) | ClinVar dbSNP gnomAD v4 |
12 | g.101786118T>G | CA481326273 | GNPTAB | c.465A>C (p.Pro155=) n.259A>C c.99A>C (p.Pro33=) c.384A>C (p.Pro128=) c.249A>C (p.Pro83=) c.-886A>C (n.-886A>C) | |
12 | g.101786118T= | CA2058964830 | GNPTAB | c.465A= (p.Pro155=) n.259A= c.99A= (p.Pro33=) c.384A= (p.Pro128=) c.249A= (p.Pro83=) c.-886A= (n.-886A=) | |
12 | g.101786119G>A | CA386304996 | GNPTAB | c.464C>T (p.Pro155Leu) n.258C>T c.98C>T (p.Pro33Leu) c.383C>T (p.Pro128Leu) c.248C>T (p.Pro83Leu) c.-887C>T (n.-887C>T) | gnomAD v4 |
12 | g.101786119G>C | CA386304997 | GNPTAB | c.464C>G (p.Pro155Arg) n.258C>G c.98C>G (p.Pro33Arg) c.383C>G (p.Pro128Arg) c.248C>G (p.Pro83Arg) c.-887C>G (n.-887C>G) | |
12 | g.101786119G>T | CA386304998 | GNPTAB | c.464C>A (p.Pro155Gln) n.258C>A c.98C>A (p.Pro33Gln) c.383C>A (p.Pro128Gln) c.248C>A (p.Pro83Gln) c.-887C>A (n.-887C>A) | |
12 | g.101786120G>A | CA386304999 | GNPTAB | c.463C>T (p.Pro155Ser) n.257C>T c.97C>T (p.Pro33Ser) c.382C>T (p.Pro128Ser) c.247C>T (p.Pro83Ser) c.-888C>T (n.-888C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.101786120G>C | CA386305000 | GNPTAB | c.463C>G (p.Pro155Ala) n.257C>G c.97C>G (p.Pro33Ala) c.382C>G (p.Pro128Ala) c.247C>G (p.Pro83Ala) c.-888C>G (n.-888C>G) | |
12 | g.101786120G= | CA2058964831 | GNPTAB | c.463C= (p.Pro155=) n.257C= c.97C= (p.Pro33=) c.382C= (p.Pro128=) c.247C= (p.Pro83=) c.-888C= (n.-888C=) | |
12 | g.101786120G>T | CA386305001 | GNPTAB | c.463C>A (p.Pro155Thr) n.257C>A c.97C>A (p.Pro33Thr) c.382C>A (p.Pro128Thr) c.247C>A (p.Pro83Thr) c.-888C>A (n.-888C>A) | |
12 | g.101786121C>A | CA481326274 | GNPTAB | c.462G>T (p.Leu154=) n.256G>T c.96G>T (p.Leu32=) c.381G>T (p.Leu127=) c.246G>T (p.Leu82=) c.-889G>T (n.-889G>T) | |
12 | g.101786121C>G | CA481326275 | GNPTAB | c.462G>C (p.Leu154=) n.256G>C c.96G>C (p.Leu32=) c.381G>C (p.Leu127=) c.246G>C (p.Leu82=) c.-889G>C (n.-889G>C) | ClinVar gnomAD v4 |
12 | g.101786121C>T | CA481326276 | GNPTAB | c.462G>A (p.Leu154=) n.256G>A c.96G>A (p.Leu32=) c.381G>A (p.Leu127=) c.246G>A (p.Leu82=) c.-889G>A (n.-889G>A) | ClinVar dbSNP |
12 | g.101786122A>C | CA386305002 | GNPTAB | c.461T>G (p.Leu154Arg) n.255T>G c.95T>G (p.Leu32Arg) c.380T>G (p.Leu127Arg) c.245T>G (p.Leu82Arg) c.-890T>G (n.-890T>G) | |
12 | g.101786122A>G | CA386305003 | GNPTAB | c.461T>C (p.Leu154Pro) n.255T>C c.95T>C (p.Leu32Pro) c.380T>C (p.Leu127Pro) c.245T>C (p.Leu82Pro) c.-890T>C (n.-890T>C) | |
12 | g.101786122A>T | CA386305004 | GNPTAB | c.461T>A (p.Leu154Gln) n.255T>A c.95T>A (p.Leu32Gln) c.380T>A (p.Leu127Gln) c.245T>A (p.Leu82Gln) c.-890T>A (n.-890T>A) | |
12 | g.101786123G>A | CA242473381 | GNPTAB | c.460C>T (p.Leu154=) n.254C>T c.94C>T (p.Leu32=) c.379C>T (p.Leu127=) c.244C>T (p.Leu82=) c.-891C>T (n.-891C>T) | dbSNP |
12 | g.101786123G>C | CA386305005 | GNPTAB | c.460C>G (p.Leu154Val) n.254C>G c.94C>G (p.Leu32Val) c.379C>G (p.Leu127Val) c.244C>G (p.Leu82Val) c.-891C>G (n.-891C>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101786123G= | CA2058964832 | GNPTAB | c.460C= (p.Leu154=) n.254C= c.94C= (p.Leu32=) c.379C= (p.Leu127=) c.244C= (p.Leu82=) c.-891C= (n.-891C=) | |
12 | g.101786123G>T | CA386305006 | GNPTAB | c.460C>A (p.Leu154Met) n.254C>A c.94C>A (p.Leu32Met) c.379C>A (p.Leu127Met) c.244C>A (p.Leu82Met) c.-891C>A (n.-891C>A) | |
12 | g.101786124G>A | CA481326277 | GNPTAB | c.459C>T (p.Asp153=) n.253C>T c.93C>T (p.Asp31=) c.378C>T (p.Asp126=) c.243C>T (p.Asp81=) c.-892C>T (n.-892C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786124G>C | CA386305007 | GNPTAB | c.459C>G (p.Asp153Glu) n.253C>G c.93C>G (p.Asp31Glu) c.378C>G (p.Asp126Glu) c.243C>G (p.Asp81Glu) c.-892C>G (n.-892C>G) | |
12 | g.101786124G= | CA2058964833 | GNPTAB | c.459C= (p.Asp153=) n.253C= c.93C= (p.Asp31=) c.378C= (p.Asp126=) c.243C= (p.Asp81=) c.-892C= (n.-892C=) | |
12 | g.101786124G>T | CA6746876 | GNPTAB | c.459C>A (p.Asp153Glu) n.253C>A c.93C>A (p.Asp31Glu) c.378C>A (p.Asp126Glu) c.243C>A (p.Asp81Glu) c.-892C>A (n.-892C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.101786125T>A | CA386305010 | GNPTAB | c.458A>T (p.Asp153Val) n.252A>T c.92A>T (p.Asp31Val) c.377A>T (p.Asp126Val) c.242A>T (p.Asp81Val) c.-893A>T (n.-893A>T) | |
12 | g.101786125T>C | CA386305009 | GNPTAB | c.458A>G (p.Asp153Gly) n.252A>G c.92A>G (p.Asp31Gly) c.377A>G (p.Asp126Gly) c.242A>G (p.Asp81Gly) c.-893A>G (n.-893A>G) | gnomAD v4 |
12 | g.101786125T>G | CA386305008 | GNPTAB | c.458A>C (p.Asp153Ala) n.252A>C c.92A>C (p.Asp31Ala) c.377A>C (p.Asp126Ala) c.242A>C (p.Asp81Ala) c.-893A>C (n.-893A>C) | dbSNP |
12 | g.101786125T= | CA2058964834 | GNPTAB | c.458A= (p.Asp153=) n.252A= c.92A= (p.Asp31=) c.377A= (p.Asp126=) c.242A= (p.Asp81=) c.-893A= (n.-893A=) | |
12 | g.101786126C>A | CA386305011 | GNPTAB | c.457G>T (p.Asp153Tyr) n.251G>T c.91G>T (p.Asp31Tyr) c.376G>T (p.Asp126Tyr) c.241G>T (p.Asp81Tyr) c.-894G>T (n.-894G>T) | |
12 | g.101786126C= | CA2058964835 | GNPTAB | c.457G= (p.Asp153=) n.251G= c.91G= (p.Asp31=) c.376G= (p.Asp126=) c.241G= (p.Asp81=) c.-894G= (n.-894G=) | |
12 | g.101786126C>G | CA386305012 | GNPTAB | c.457G>C (p.Asp153His) n.251G>C c.91G>C (p.Asp31His) c.376G>C (p.Asp126His) c.241G>C (p.Asp81His) c.-894G>C (n.-894G>C) | |
12 | g.101786126C>T | CA10640664 | GNPTAB | c.457G>A (p.Asp153Asn) n.251G>A c.91G>A (p.Asp31Asn) c.376G>A (p.Asp126Asn) c.241G>A (p.Asp81Asn) c.-894G>A (n.-894G>A) | ClinVar dbSNP gnomAD v4 |
12 | g.101786127C>A | CA386305013 | GNPTAB | c.456G>T (p.Lys152Asn) n.250G>T c.90G>T (p.Lys30Asn) c.375G>T (p.Lys125Asn) c.240G>T (p.Lys80Asn) c.-895G>T (n.-895G>T) | |
12 | g.101786127C>G | CA386305014 | GNPTAB | c.456G>C (p.Lys152Asn) n.250G>C c.90G>C (p.Lys30Asn) c.375G>C (p.Lys125Asn) c.240G>C (p.Lys80Asn) c.-895G>C (n.-895G>C) | |
12 | g.101786127C>T | CA481326278 | GNPTAB | c.456G>A (p.Lys152=) n.250G>A c.90G>A (p.Lys30=) c.375G>A (p.Lys125=) c.240G>A (p.Lys80=) c.-895G>A (n.-895G>A) | |
12 | g.101786128T>A | CA386305015 | GNPTAB | c.455A>T (p.Lys152Met) n.249A>T c.89A>T (p.Lys30Met) c.374A>T (p.Lys125Met) c.239A>T (p.Lys80Met) c.-896A>T (n.-896A>T) | |
12 | g.101786128T>C | CA386305016 | GNPTAB | c.455A>G (p.Lys152Arg) n.249A>G c.89A>G (p.Lys30Arg) c.374A>G (p.Lys125Arg) c.239A>G (p.Lys80Arg) c.-896A>G (n.-896A>G) | |
12 | g.101786128T>G | CA386305017 | GNPTAB | c.455A>C (p.Lys152Thr) n.249A>C c.89A>C (p.Lys30Thr) c.374A>C (p.Lys125Thr) c.239A>C (p.Lys80Thr) c.-896A>C (n.-896A>C) | |
12 | g.101786129T>A | CA386305018 | GNPTAB | c.454A>T (p.Lys152Ter) n.248A>T c.88A>T (p.Lys30Ter) c.373A>T (p.Lys125Ter) c.238A>T (p.Lys80Ter) c.-897A>T (n.-897A>T) | |
12 | g.101786129T>C | CA386305019 | GNPTAB | c.454A>G (p.Lys152Glu) n.248A>G c.88A>G (p.Lys30Glu) c.373A>G (p.Lys125Glu) c.238A>G (p.Lys80Glu) c.-897A>G (n.-897A>G) | |
12 | g.101786129T>G | CA386305020 | GNPTAB | c.454A>C (p.Lys152Gln) n.248A>C c.88A>C (p.Lys30Gln) c.373A>C (p.Lys125Gln) c.238A>C (p.Lys80Gln) c.-897A>C (n.-897A>C) |