Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.33417906C>A | CA9817201 | SNTA1 | c.514G>T (p.Val172Phe) n.747G>T c.187G>T (p.Val63Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.33417906C= | CA2360744042 | SNTA1 | c.514G= (p.Val172=) n.747G= c.187G= (p.Val63=) | |
20 | g.33417906C>G | CA408632869 | SNTA1 | c.514G>C (p.Val172Leu) n.747G>C c.187G>C (p.Val63Leu) | |
20 | g.33417906C>T | CA9817200 | SNTA1 | c.514G>A (p.Val172Ile) n.747G>A c.187G>A (p.Val63Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33417907G>A | CA9817202 | SNTA1 | c.513C>T (p.Asp171=) n.746C>T c.186C>T (p.Asp62=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33417907G>C | CA408632872 | SNTA1 | c.513C>G (p.Asp171Glu) n.746C>G c.186C>G (p.Asp62Glu) | |
20 | g.33417907G= | CA2360744043 | SNTA1 | c.513C= (p.Asp171=) n.746C= c.186C= (p.Asp62=) | |
20 | g.33417907G>T | CA408632874 | SNTA1 | c.513C>A (p.Asp171Glu) n.746C>A c.186C>A (p.Asp62Glu) | |
20 | g.33417908T>A | CA408632880 | SNTA1 | c.512A>T (p.Asp171Val) n.745A>T c.185A>T (p.Asp62Val) | |
20 | g.33417908T>C | CA408632876 | SNTA1 | c.512A>G (p.Asp171Gly) n.745A>G c.185A>G (p.Asp62Gly) | |
20 | g.33417908T>G | CA408632878 | SNTA1 | c.512A>C (p.Asp171Ala) n.745A>C c.185A>C (p.Asp62Ala) | |
20 | g.33417909C>A | CA408632881 | SNTA1 | c.511G>T (p.Asp171Tyr) n.744G>T c.184G>T (p.Asp62Tyr) | |
20 | g.33417909C>G | CA408632883 | SNTA1 | c.511G>C (p.Asp171His) n.744G>C c.184G>C (p.Asp62His) | |
20 | g.33417909C>T | CA408632884 | SNTA1 | c.511G>A (p.Asp171Asn) n.744G>A c.184G>A (p.Asp62Asn) | gnomAD v4 |
20 | g.33417910C>A | CA408632886 | SNTA1 | c.510G>T (p.Lys170Asn) n.743G>T c.183G>T (p.Lys61Asn) | |
20 | g.33417910C= | CA2360744044 | SNTA1 | c.510G= (p.Lys170=) n.743G= c.183G= (p.Lys61=) | |
20 | g.33417910C>G | CA408632888 | SNTA1 | c.510G>C (p.Lys170Asn) n.743G>C c.183G>C (p.Lys61Asn) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.33417910C>T | CA510251422 | SNTA1 | c.510G>A (p.Lys170=) n.743G>A c.183G>A (p.Lys61=) | |
20 | g.33417911T>A | CA408632890 | SNTA1 | c.509A>T (p.Lys170Met) n.742A>T c.182A>T (p.Lys61Met) | |
20 | g.33417911T>C | CA408632891 | SNTA1 | c.509A>G (p.Lys170Arg) n.742A>G c.182A>G (p.Lys61Arg) | |
20 | g.33417911T>G | CA408632893 | SNTA1 | c.509A>C (p.Lys170Thr) n.742A>C c.182A>C (p.Lys61Thr) | |
20 | g.33417912T>A | CA408632895 | SNTA1 | c.508A>T (p.Lys170Ter) n.741A>T c.181A>T (p.Lys61Ter) | |
20 | g.33417912T>C | CA408632896 | SNTA1 | c.508A>G (p.Lys170Glu) n.741A>G c.181A>G (p.Lys61Glu) | |
20 | g.33417912T>G | CA408632898 | SNTA1 | c.508A>C (p.Lys170Gln) n.741A>C c.181A>C (p.Lys61Gln) | |
20 | g.33417913C>A | CA408632903 | SNTA1 | c.507G>T (p.Met169Ile) n.740G>T c.180G>T (p.Met60Ile) | |
20 | g.33417913C>G | CA408632902 | SNTA1 | c.507G>C (p.Met169Ile) n.740G>C c.180G>C (p.Met60Ile) | |
20 | g.33417913C>T | CA408632900 | SNTA1 | c.507G>A (p.Met169Ile) n.740G>A c.180G>A (p.Met60Ile) | |
20 | g.33417914A>C | CA408632905 | SNTA1 | c.506T>G (p.Met169Arg) n.739T>G c.179T>G (p.Met60Arg) | ClinVar dbSNP |
20 | g.33417914A>G | CA408632907 | SNTA1 | c.506T>C (p.Met169Thr) n.739T>C c.179T>C (p.Met60Thr) | |
20 | g.33417914A>T | CA408632908 | SNTA1 | c.506T>A (p.Met169Lys) n.739T>A c.179T>A (p.Met60Lys) | |
20 | g.33417915T>A | CA408632910 | SNTA1 | c.505A>T (p.Met169Leu) n.738A>T c.178A>T (p.Met60Leu) | |
20 | g.33417915T>C | CA408632911 | SNTA1 | c.505A>G (p.Met169Val) n.738A>G c.178A>G (p.Met60Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33417915T>G | CA408632913 | SNTA1 | c.505A>C (p.Met169Leu) n.738A>C c.178A>C (p.Met60Leu) | |
20 | g.33417915T= | CA2360744045 | SNTA1 | c.505A= (p.Met169=) n.738A= c.178A= (p.Met60=) | |
20 | g.33417916A>C | CA408632915 | SNTA1 | c.504T>G (p.Tyr168Ter) n.737T>G c.177T>G (p.Tyr59Ter) | |
20 | g.33417916A>G | CA510251426 | SNTA1 | c.504T>C (p.Tyr168=) n.737T>C c.177T>C (p.Tyr59=) | COSMIC |
20 | g.33417916A>T | CA408632916 | SNTA1 | c.504T>A (p.Tyr168Ter) n.737T>A c.177T>A (p.Tyr59Ter) | |
20 | g.33417917del | CA2577372614 | SNTA1 | c.503del (p.Tyr168LeufsTer2) n.736del c.176del (p.Tyr59LeufsTer2) | |
20 | g.33417917T>A | CA408632918 | SNTA1 | c.503A>T (p.Tyr168Phe) n.736A>T c.176A>T (p.Tyr59Phe) | gnomAD v4 |
20 | g.33417917T>C | CA408632919 | SNTA1 | c.503A>G (p.Tyr168Cys) n.736A>G c.176A>G (p.Tyr59Cys) | dbSNP |
20 | g.33417917T>G | CA408632921 | SNTA1 | c.503A>C (p.Tyr168Ser) n.736A>C c.176A>C (p.Tyr59Ser) | |
20 | g.33417917T= | CA2360744046 | SNTA1 | c.503A= (p.Tyr168=) n.736A= c.176A= (p.Tyr59=) | |
20 | g.33417918A= | CA2360744047 | SNTA1 | c.502T= (p.Tyr168=) n.735T= c.175T= (p.Tyr59=) | |
20 | g.33417918A>C | CA408632923 | SNTA1 | c.502T>G (p.Tyr168Asp) n.735T>G c.175T>G (p.Tyr59Asp) | |
20 | g.33417918A>G | CA408632924 | SNTA1 | c.502T>C (p.Tyr168His) n.735T>C c.175T>C (p.Tyr59His) | ClinVar dbSNP gnomAD v4 |
20 | g.33417918A>T | CA408632926 | SNTA1 | c.502T>A (p.Tyr168Asn) n.735T>A c.175T>A (p.Tyr59Asn) | |
20 | g.33417919C>A | CA408632928 | SNTA1 | c.501G>T (p.Lys167Asn) n.734G>T c.174G>T (p.Lys58Asn) | |
20 | g.33417919C>G | CA408632930 | SNTA1 | c.501G>C (p.Lys167Asn) n.734G>C c.174G>C (p.Lys58Asn) | |
20 | g.33417919C>T | CA510251430 | SNTA1 | c.501G>A (p.Lys167=) n.734G>A c.174G>A (p.Lys58=) | gnomAD v4 |
20 | g.33417920T>A | CA408632931 | SNTA1 | c.500A>T (p.Lys167Met) n.733A>T c.173A>T (p.Lys58Met) |