Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.160135282del | CA16617011 | ATP1A2 | c.2102del (p.Gly701AspfsTer11) c.1234del n.2205del | ClinVar dbSNP gnomAD v4 |
1 | g.160135282G>A | CA343248764 | ATP1A2 | c.2102G>A (p.Gly701Glu) c.1234G>A n.2205G>A | COSMIC |
1 | g.160135282G>C | CA343248760 | ATP1A2 | c.2102G>C (p.Gly701Ala) c.1234G>C n.2205G>C | |
1 | g.160135282G>T | CA343248762 | ATP1A2 | c.2102G>T (p.Gly701Val) c.1234G>T n.2205G>T | |
1 | g.160135283A= | CA1202195062 | ATP1A2 | c.2103A= (p.Gly701=) c.1235A= n.2206A= | |
1 | g.160135283A>C | CA31501015 | ATP1A2 | c.2103A>C (p.Gly701=) c.1235A>C n.2206A>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.160135283A>G | CA421600457 | ATP1A2 | c.2103A>G (p.Gly701=) c.1235A>G n.2206A>G | |
1 | g.160135283A>T | CA31501016 | ATP1A2 | c.2103A>T (p.Gly701=) c.1235A>T n.2206A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160135283_160135285delinsATG | CA1202195063 | ATP1A2 | c.2103_2105delinsATG (p.Gly701=) c.1235_1237delinsATG n.2206_2208delinsATG | |
1 | g.160135284T>A | CA343248765 | ATP1A2 | c.2104T>A (p.Cys702Ser) c.1236T>A n.2207T>A | ClinVar dbSNP |
1 | g.160135284T>C | CA343248766 | ATP1A2 | c.2104T>C (p.Cys702Arg) c.1236T>C n.2207T>C | |
1 | g.160135284T>G | CA343248768 | ATP1A2 | c.2104T>G (p.Cys702Gly) c.1236T>G n.2207T>G | |
1 | g.160135284T= | CA1202195064 | ATP1A2 | c.2104T= (p.Cys702=) c.1236T= n.2207T= | |
1 | g.160135285_160135286del | CA913189844 | ATP1A2 | c.2105_2106del (p.Cys702SerfsTer12) c.1237_1238del n.2208_2209del | ClinVar dbSNP |
1 | g.160135285G>A | CA1194655 | ATP1A2 | c.2105G>A (p.Cys702Tyr) c.1237G>A n.2208G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.160135285G>C | CA343248771 | ATP1A2 | c.2105G>C (p.Cys702Ser) c.1237G>C n.2208G>C | |
1 | g.160135285G= | CA1202195065 | ATP1A2 | c.2105G= (p.Cys702=) c.1237G= n.2208G= | |
1 | g.160135285G>T | CA343248772 | ATP1A2 | c.2105G>T (p.Cys702Phe) c.1237G>T n.2208G>T | COSMIC |
1 | g.160135286T>A | CA343248773 | ATP1A2 | c.2106T>A (p.Cys702Ter) c.1238T>A n.2209T>A | |
1 | g.160135286T>C | CA421600460 | ATP1A2 | c.2106T>C (p.Cys702=) c.1238T>C n.2209T>C | |
1 | g.160135286T>G | CA343248774 | ATP1A2 | c.2106T>G (p.Cys702Trp) c.1238T>G n.2209T>G | |
1 | g.160135287C>A | CA343248776 | ATP1A2 | c.2107C>A (p.Gln703Lys) c.1239C>A n.2210C>A | |
1 | g.160135287C= | CA1202195066 | ATP1A2 | c.2107C= (p.Gln703=) c.1239C= n.2210C= | |
1 | g.160135287C>G | CA343248777 | ATP1A2 | c.2107C>G (p.Gln703Glu) c.1239C>G n.2210C>G | ClinVar dbSNP |
1 | g.160135287C>T | CA343248780 | ATP1A2 | c.2107C>T (p.Gln703Ter) c.1239C>T n.2210C>T | |
1 | g.160135288A>C | CA343248784 | ATP1A2 | c.2108A>C (p.Gln703Pro) c.1240A>C n.2211A>C | |
1 | g.160135288A>G | CA343248781 | ATP1A2 | c.2108A>G (p.Gln703Arg) c.1240A>G n.2211A>G | |
1 | g.160135288A>T | CA343248783 | ATP1A2 | c.2108A>T (p.Gln703Leu) c.1240A>T n.2211A>T | |
1 | g.160135289G>A | CA421600461 | ATP1A2 | c.2109G>A (p.Gln703=) c.1241G>A n.2212G>A | |
1 | g.160135289G>C | CA343248785 | ATP1A2 | c.2109G>C (p.Gln703His) c.1241G>C n.2212G>C | |
1 | g.160135289G>T | CA343248787 | ATP1A2 | c.2109G>T (p.Gln703His) c.1241G>T n.2212G>T | |
1 | g.160135289_160135290delinsGA | CA1202195067 | ATP1A2 | c.2109_2110delinsGA (p.Gln703=) c.1241_1242delinsGA n.2212_2213delinsGA | |
1 | g.160135290del | CA890099089 | ATP1A2 | c.2110del (p.Arg704GlyfsTer8) c.1242del n.2213del | dbSNP gnomAD v3 gnomAD v4 |
1 | g.160135290A>C | CA421600462 | ATP1A2 | c.2110A>C (p.Arg704=) c.1242A>C n.2213A>C | |
1 | g.160135290A>G | CA343248789 | ATP1A2 | c.2110A>G (p.Arg704Gly) c.1242A>G n.2213A>G | |
1 | g.160135290A>T | CA343248791 | ATP1A2 | c.2110A>T (p.Arg704Trp) c.1242A>T n.2213A>T | |
1 | g.160135291G>A | CA343248793 | ATP1A2 | c.2111G>A (p.Arg704Lys) c.1243G>A n.2214G>A | ClinVar dbSNP gnomAD v4 |
1 | g.160135291G>C | CA343248795 | ATP1A2 | c.2111G>C (p.Arg704Thr) c.1243G>C n.2214G>C | |
1 | g.160135291G>T | CA343248797 | ATP1A2 | c.2111G>T (p.Arg704Met) c.1243G>T n.2214G>T | |
1 | g.160135292G>A | CA421600465 | ATP1A2 | c.2112G>A (p.Arg704=) c.1244G>A n.2215G>A | |
1 | g.160135292G>C | CA343248798 | ATP1A2 | c.2112G>C (p.Arg704Ser) c.1244G>C n.2215G>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.160135292G= | CA1202195068 | ATP1A2 | c.2112G= (p.Arg704=) c.1244G= n.2215G= | |
1 | g.160135292G>T | CA343248799 | ATP1A2 | c.2112G>T (p.Arg704Ser) c.1244G>T n.2215G>T | |
1 | g.160135293C>A | CA343248801 | ATP1A2 | c.2113C>A (p.Gln705Lys) c.1245C>A n.2216C>A | |
1 | g.160135293C>G | CA343248803 | ATP1A2 | c.2113C>G (p.Gln705Glu) c.1245C>G n.2216C>G | |
1 | g.160135293C>T | CA343248804 | ATP1A2 | c.2113C>T (p.Gln705Ter) c.1245C>T n.2216C>T | |
1 | g.160135294A>C | CA343248808 | ATP1A2 | c.2114A>C (p.Gln705Pro) c.1246A>C n.2217A>C | |
1 | g.160135294A>G | CA343248807 | ATP1A2 | c.2114A>G (p.Gln705Arg) c.1246A>G n.2217A>G | |
1 | g.160135294A>T | CA343248806 | ATP1A2 | c.2114A>T (p.Gln705Leu) c.1246A>T n.2217A>T | |
1 | g.160135295G>A | CA421600467 | ATP1A2 | c.2115G>A (p.Gln705=) c.1247G>A n.2218G>A |