Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.160127683_160127699delinsACAGGGGTCGCTGTATT | CA1202191879 | ATP1A2 | c.880_896delinsACAGGGGTCGCTGTATT (p.Thr294=) c.12_28delinsACAGGGGTCGCTGTATT n.983_999delinsACAGGGGTCGCTGTATT | |
1 | g.160127685_160127700del | CA16617008 | ATP1A2 | c.882_897del (p.Gly295TrpfsTer27) c.14_29del n.985_1000del | ClinVar dbSNP |
1 | g.160127685del | CA2648642078 | ATP1A2 | c.882del (p.Val296SerfsTer?) c.14del n.985del | gnomAD v4 |
1 | g.160127685A>C | CA421599756 | ATP1A2 | c.882A>C (p.Thr294=) c.14A>C n.985A>C | |
1 | g.160127685A>G | CA421599757 | ATP1A2 | c.882A>G (p.Thr294=) c.14A>G n.985A>G | |
1 | g.160127685A>T | CA421599758 | ATP1A2 | c.882A>T (p.Thr294=) c.14A>T n.985A>T | |
1 | g.160127686G>A | CA343237964 | ATP1A2 | c.883G>A (p.Gly295Arg) c.15G>A n.986G>A | |
1 | g.160127686G>C | CA343237970 | ATP1A2 | c.883G>C (p.Gly295Arg) c.15G>C n.986G>C | |
1 | g.160127686G>T | CA343237973 | ATP1A2 | c.883G>T (p.Gly295Trp) c.15G>T n.986G>T | |
1 | g.160127687G>A | CA343237982 | ATP1A2 | c.884G>A (p.Gly295Glu) c.16G>A n.987G>A | gnomAD v4 |
1 | g.160127687G>C | CA343237988 | ATP1A2 | c.884G>C (p.Gly295Ala) c.16G>C n.987G>C | |
1 | g.160127687G>T | CA343237989 | ATP1A2 | c.884G>T (p.Gly295Val) c.16G>T n.987G>T | |
1 | g.160127688G>A | CA31493371 | ATP1A2 | c.885G>A (p.Gly295=) c.17G>A n.988G>A | dbSNP gnomAD v4 |
1 | g.160127688G>C | CA421599763 | ATP1A2 | c.885G>C (p.Gly295=) c.17G>C n.988G>C | ClinVar gnomAD v4 COSMIC |
1 | g.160127688G= | CA1202191880 | ATP1A2 | c.885G= (p.Gly295=) c.17G= n.988G= | |
1 | g.160127688G>T | CA421599764 | ATP1A2 | c.885G>T (p.Gly295=) c.17G>T n.988G>T | |
1 | g.160127689G>A | CA343237990 | ATP1A2 | c.886G>A (p.Val296Ile) c.18G>A n.989G>A | |
1 | g.160127689G>C | CA343237991 | ATP1A2 | c.886G>C (p.Val296Leu) c.18G>C n.989G>C | |
1 | g.160127689G>T | CA343237992 | ATP1A2 | c.886G>T (p.Val296Phe) c.18G>T n.989G>T | |
1 | g.160127690T>A | CA343237994 | ATP1A2 | c.887T>A (p.Val296Asp) c.19T>A n.990T>A | |
1 | g.160127690T>C | CA343237998 | ATP1A2 | c.887T>C (p.Val296Ala) c.19T>C n.990T>C | |
1 | g.160127690T>G | CA343238002 | ATP1A2 | c.887T>G (p.Val296Gly) c.19T>G n.990T>G | |
1 | g.160127691C>A | CA421599768 | ATP1A2 | c.888C>A (p.Val296=) c.20C>A n.991C>A | gnomAD v4 |
1 | g.160127691C= | CA1202191881 | ATP1A2 | c.888C= (p.Val296=) c.20C= n.991C= | |
1 | g.160127691C>G | CA421599770 | ATP1A2 | c.888C>G (p.Val296=) c.20C>G n.991C>G | |
1 | g.160127691C>T | CA1194303 | ATP1A2 | c.888C>T (p.Val296=) c.20C>T n.991C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160127692G>A | CA1194304 | ATP1A2 | c.889G>A (p.Ala297Thr) c.21G>A n.992G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.160127692G>C | CA343238010 | ATP1A2 | c.889G>C (p.Ala297Pro) c.21G>C n.992G>C | |
1 | g.160127692G= | CA1142491385 | ATP1A2 | c.889G= (p.Ala297=) c.21G= n.992G= | |
1 | g.160127692G>T | CA343238019 | ATP1A2 | c.889G>T (p.Ala297Ser) c.21G>T n.992G>T | |
1 | g.160127693C>A | CA343238022 | ATP1A2 | c.890C>A (p.Ala297Asp) c.22C>A n.993C>A | |
1 | g.160127693C>G | CA343238023 | ATP1A2 | c.890C>G (p.Ala297Gly) c.22C>G n.993C>G | |
1 | g.160127693C>T | CA343238024 | ATP1A2 | c.890C>T (p.Ala297Val) c.22C>T n.993C>T | |
1 | g.160127694T>A | CA421599774 | ATP1A2 | c.891T>A (p.Ala297=) c.23T>A n.994T>A | |
1 | g.160127694T>C | CA421599775 | ATP1A2 | c.891T>C (p.Ala297=) c.23T>C n.994T>C | |
1 | g.160127694T>G | CA421599777 | ATP1A2 | c.891T>G (p.Ala297=) c.23T>G n.994T>G | |
1 | g.160127695G>A | CA343238025 | ATP1A2 | c.892G>A (p.Val298Ile) c.24G>A n.995G>A | |
1 | g.160127695G>C | CA1194305 | ATP1A2 | c.892G>C (p.Val298Leu) c.24G>C n.995G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160127695G= | CA1202191882 | ATP1A2 | c.892G= (p.Val298=) c.24G= n.995G= | |
1 | g.160127695G>T | CA343238029 | ATP1A2 | c.892G>T (p.Val298Leu) c.24G>T n.995G>T | |
1 | g.160127695_160127712dup | CA2573131134 | ATP1A2 | c.892_909dup (p.Ser303_Phe304insValPheLeuGlyValSer) c.24_41dup n.995_1012dup | ClinVar dbSNP |
1 | g.160127696T>A | CA343238031 | ATP1A2 | c.893T>A (p.Val298Glu) c.25T>A n.996T>A | |
1 | g.160127696T>C | CA343238035 | ATP1A2 | c.893T>C (p.Val298Ala) c.25T>C n.996T>C | |
1 | g.160127696T>G | CA343238044 | ATP1A2 | c.893T>G (p.Val298Gly) c.25T>G n.996T>G | |
1 | g.160127697_160127698del | CA2648642079 | ATP1A2 | c.894_895del (p.Phe299ProfsTer?) c.26_27del n.997_998del | gnomAD v4 |
1 | g.160127697A>C | CA421599781 | ATP1A2 | c.894A>C (p.Val298=) c.26A>C n.997A>C | |
1 | g.160127697A>G | CA421599785 | ATP1A2 | c.894A>G (p.Val298=) c.26A>G n.997A>G | |
1 | g.160127697A>T | CA421599787 | ATP1A2 | c.894A>T (p.Val298=) c.26A>T n.997A>T | gnomAD v4 |
1 | g.160127698T>A | CA343238045 | ATP1A2 | c.895T>A (p.Phe299Ile) c.27T>A n.998T>A | |
1 | g.160127698T>C | CA343238050 | ATP1A2 | c.895T>C (p.Phe299Leu) c.27T>C n.998T>C |