| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.160127560del | CA2648642077 | ATP1A2 | c.757del (p.Arg253GlyfsTer4) n.860del | gnomAD v4 |
| 1 | g.160127560A>C | CA421599366 | ATP1A2 | c.757A>C (p.Arg253=) n.860A>C | |
| 1 | g.160127560A>G | CA343236942 | ATP1A2 | c.757A>G (p.Arg253Gly) n.860A>G | |
| 1 | g.160127560A>T | CA343236948 | ATP1A2 | c.757A>T (p.Arg253Trp) n.860A>T | |
| 1 | g.160127561G>A | CA343236954 | ATP1A2 | c.758G>A (p.Arg253Lys) n.861G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160127561G>C | CA343236958 | ATP1A2 | c.758G>C (p.Arg253Thr) n.861G>C | |
| 1 | g.160127561G= | CA1202191844 | ATP1A2 | c.758G= (p.Arg253=) n.861G= | |
| 1 | g.160127561G>T | CA343236957 | ATP1A2 | c.758G>T (p.Arg253Met) n.861G>T | |
| 1 | g.160127562G>A | CA421599377 | ATP1A2 | c.759G>A (p.Arg253=) n.862G>A | |
| 1 | g.160127562G>C | CA343236959 | ATP1A2 | c.759G>C (p.Arg253Ser) n.862G>C | |
| 1 | g.160127562G>T | CA343236961 | ATP1A2 | c.759G>T (p.Arg253Ser) n.862G>T | |
| 1 | g.160127563G>A | CA343236963 | ATP1A2 | c.760G>A (p.Gly254Ser) n.863G>A | |
| 1 | g.160127563G>C | CA343236967 | ATP1A2 | c.760G>C (p.Gly254Arg) n.863G>C | |
| 1 | g.160127563G>T | CA343236969 | ATP1A2 | c.760G>T (p.Gly254Cys) n.863G>T | |
| 1 | g.160127564G>A | CA343236973 | ATP1A2 | c.761G>A (p.Gly254Asp) n.864G>A | |
| 1 | g.160127564G>C | CA343236982 | ATP1A2 | c.761G>C (p.Gly254Ala) n.864G>C | |
| 1 | g.160127564G>T | CA343236984 | ATP1A2 | c.761G>T (p.Gly254Val) n.864G>T | |
| 1 | g.160127565C>A | CA421599389 | ATP1A2 | c.762C>A (p.Gly254=) n.865C>A | |
| 1 | g.160127565C= | CA1202191845 | ATP1A2 | c.762C= (p.Gly254=) n.865C= | |
| 1 | g.160127565C>G | CA421599388 | ATP1A2 | c.762C>G (p.Gly254=) n.865C>G | |
| 1 | g.160127565C>T | CA1194284 | ATP1A2 | c.762C>T (p.Gly254=) n.865C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160127566A>C | CA343236991 | ATP1A2 | c.763A>C (p.Ile255Leu) n.866A>C | |
| 1 | g.160127566A>G | CA343236995 | ATP1A2 | c.763A>G (p.Ile255Val) n.866A>G | |
| 1 | g.160127566A>T | CA343236996 | ATP1A2 | c.763A>T (p.Ile255Phe) n.866A>T | |
| 1 | g.160127567T>A | CA343236997 | ATP1A2 | c.764T>A (p.Ile255Asn) n.867T>A | |
| 1 | g.160127567T>C | CA1194285 | ATP1A2 | c.764T>C (p.Ile255Thr) n.867T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160127567T>G | CA343236998 | ATP1A2 | c.764T>G (p.Ile255Ser) n.867T>G | |
| 1 | g.160127567T= | CA1142255462 | ATP1A2 | c.764T= (p.Ile255=) n.867T= | |
| 1 | g.160127568T>A | CA1194286 | ATP1A2 | c.765T>A (p.Ile255=) n.868T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160127568T>C | CA1194287 | ATP1A2 | c.765T>C (p.Ile255=) n.868T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160127568T>G | CA343237004 | ATP1A2 | c.765T>G (p.Ile255Met) n.868T>G | |
| 1 | g.160127568T= | CA1144182394 | ATP1A2 | c.765T= (p.Ile255=) n.868T= | |
| 1 | g.160127569G>A | CA343237005 | ATP1A2 | c.766G>A (p.Val256Met) n.869G>A | |
| 1 | g.160127569G>C | CA343237006 | ATP1A2 | c.766G>C (p.Val256Leu) n.869G>C | |
| 1 | g.160127569G>T | CA343237007 | ATP1A2 | c.766G>T (p.Val256Leu) n.869G>T | |
| 1 | g.160127570T>A | CA343237009 | ATP1A2 | c.767T>A (p.Val256Glu) n.870T>A | |
| 1 | g.160127570T>C | CA343237012 | ATP1A2 | c.767T>C (p.Val256Ala) n.870T>C | dbSNP |
| 1 | g.160127570T>G | CA343237014 | ATP1A2 | c.767T>G (p.Val256Gly) n.870T>G | |
| 1 | g.160127570T= | CA1202191846 | ATP1A2 | c.767T= (p.Val256=) n.870T= | |
| 1 | g.160127571G>A | CA421599396 | ATP1A2 | c.768G>A (p.Val256=) n.871G>A | |
| 1 | g.160127571G>C | CA421599397 | ATP1A2 | c.768G>C (p.Val256=) n.871G>C | |
| 1 | g.160127571G>T | CA421599400 | ATP1A2 | c.768G>T (p.Val256=) n.871G>T | |
| 1 | g.160127572A>C | CA343237027 | ATP1A2 | c.769A>C (p.Ile257Leu) n.872A>C | |
| 1 | g.160127572A>G | CA343237031 | ATP1A2 | c.769A>G (p.Ile257Val) n.872A>G | |
| 1 | g.160127572A>T | CA343237019 | ATP1A2 | c.769A>T (p.Ile257Phe) n.872A>T | |
| 1 | g.160127573T>A | CA343237035 | ATP1A2 | c.770T>A (p.Ile257Asn) n.873T>A | |
| 1 | g.160127573T>C | CA343237037 | ATP1A2 | c.770T>C (p.Ile257Thr) n.873T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160127573T>G | CA343237039 | ATP1A2 | c.770T>G (p.Ile257Ser) n.873T>G | |
| 1 | g.160127573T= | CA1202191847 | ATP1A2 | c.770T= (p.Ile257=) n.873T= | |
| 1 | g.160127574T>A | CA421599404 | ATP1A2 | c.771T>A (p.Ile257=) n.874T>A |