| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41970275C>A | CA406038939 | ATP1A3 | c.2491G>T (p.Glu831Ter) c.2452G>T (p.Glu818Ter) c.2485G>T (p.Glu829Ter) c.2362G>T (p.Glu788Ter) | |
| 19 | g.41970275C= | CA2336720775 | ATP1A3 | c.2491G= (p.Glu831=) c.2452G= (p.Glu818=) c.2485G= (p.Glu829=) c.2362G= (p.Glu788=) | |
| 19 | g.41970275C>G | CA406038940 | ATP1A3 | c.2491G>C (p.Glu831Gln) c.2452G>C (p.Glu818Gln) c.2485G>C (p.Glu829Gln) c.2362G>C (p.Glu788Gln) | |
| 19 | g.41970275C>T | CA204733 | ATP1A3 | c.2491G>A (p.Glu831Lys) c.2452G>A (p.Glu818Lys) c.2485G>A (p.Glu829Lys) c.2362G>A (p.Glu788Lys) | ClinVar dbSNP COSMIC |
| 19 | g.41970276G>A | CA9467378 | ATP1A3 | c.2490C>T (p.Ala830=) c.2451C>T (p.Ala817=) c.2484C>T (p.Ala828=) c.2361C>T (p.Ala787=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41970276G>C | CA507694743 | ATP1A3 | c.2490C>G (p.Ala830=) c.2451C>G (p.Ala817=) c.2484C>G (p.Ala828=) c.2361C>G (p.Ala787=) | gnomAD v4 |
| 19 | g.41970276G= | CA2336720776 | ATP1A3 | c.2490C= (p.Ala830=) c.2451C= (p.Ala817=) c.2484C= (p.Ala828=) c.2361C= (p.Ala787=) | |
| 19 | g.41970276G>T | CA507694744 | ATP1A3 | c.2490C>A (p.Ala830=) c.2451C>A (p.Ala817=) c.2484C>A (p.Ala828=) c.2361C>A (p.Ala787=) | |
| 19 | g.41970277G>A | CA406038945 | ATP1A3 | c.2489C>T (p.Ala830Val) c.2450C>T (p.Ala817Val) c.2483C>T (p.Ala828Val) c.2360C>T (p.Ala787Val) | |
| 19 | g.41970277G>C | CA406038947 | ATP1A3 | c.2489C>G (p.Ala830Gly) c.2450C>G (p.Ala817Gly) c.2483C>G (p.Ala828Gly) c.2360C>G (p.Ala787Gly) | |
| 19 | g.41970277G>T | CA406038949 | ATP1A3 | c.2489C>A (p.Ala830Asp) c.2450C>A (p.Ala817Asp) c.2483C>A (p.Ala828Asp) c.2360C>A (p.Ala787Asp) | |
| 19 | g.41970278C>A | CA406038951 | ATP1A3 | c.2488G>T (p.Ala830Ser) c.2449G>T (p.Ala817Ser) c.2482G>T (p.Ala828Ser) c.2359G>T (p.Ala787Ser) | |
| 19 | g.41970278C= | CA2336720777 | ATP1A3 | c.2488G= (p.Ala830=) c.2449G= (p.Ala817=) c.2482G= (p.Ala828=) c.2359G= (p.Ala787=) | |
| 19 | g.41970278C>G | CA406038953 | ATP1A3 | c.2488G>C (p.Ala830Pro) c.2449G>C (p.Ala817Pro) c.2482G>C (p.Ala828Pro) c.2359G>C (p.Ala787Pro) | |
| 19 | g.41970278C>T | CA9467379 | ATP1A3 | c.2488G>A (p.Ala830Thr) c.2449G>A (p.Ala817Thr) c.2482G>A (p.Ala828Thr) c.2359G>A (p.Ala787Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41970279A>C | CA507694746 | ATP1A3 | c.2487T>G (p.Ala829=) c.2448T>G (p.Ala816=) c.2481T>G (p.Ala827=) c.2358T>G (p.Ala786=) | |
| 19 | g.41970279A>G | CA507694747 | ATP1A3 | c.2487T>C (p.Ala829=) c.2448T>C (p.Ala816=) c.2481T>C (p.Ala827=) c.2358T>C (p.Ala786=) | |
| 19 | g.41970279A>T | CA507694748 | ATP1A3 | c.2487T>A (p.Ala829=) c.2448T>A (p.Ala816=) c.2481T>A (p.Ala827=) c.2358T>A (p.Ala786=) | |
| 19 | g.41970280G>A | CA406038956 | ATP1A3 | c.2486C>T (p.Ala829Val) c.2447C>T (p.Ala816Val) c.2480C>T (p.Ala827Val) c.2357C>T (p.Ala786Val) | |
| 19 | g.41970280G>C | CA406038958 | ATP1A3 | c.2486C>G (p.Ala829Gly) c.2447C>G (p.Ala816Gly) c.2480C>G (p.Ala827Gly) c.2357C>G (p.Ala786Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41970280G= | CA2336720778 | ATP1A3 | c.2486C= (p.Ala829=) c.2447C= (p.Ala816=) c.2480C= (p.Ala827=) c.2357C= (p.Ala786=) | |
| 19 | g.41970280G>T | CA406038959 | ATP1A3 | c.2486C>A (p.Ala829Asp) c.2447C>A (p.Ala816Asp) c.2480C>A (p.Ala827Asp) c.2357C>A (p.Ala786Asp) | |
| 19 | g.41970281C>A | CA406038963 | ATP1A3 | c.2485G>T (p.Ala829Ser) c.2446G>T (p.Ala816Ser) c.2479G>T (p.Ala827Ser) c.2356G>T (p.Ala786Ser) | |
| 19 | g.41970281C= | CA2336720779 | ATP1A3 | c.2485G= (p.Ala829=) c.2446G= (p.Ala816=) c.2479G= (p.Ala827=) c.2356G= (p.Ala786=) | |
| 19 | g.41970281C>G | CA406038964 | ATP1A3 | c.2485G>C (p.Ala829Pro) c.2446G>C (p.Ala816Pro) c.2479G>C (p.Ala827Pro) c.2356G>C (p.Ala786Pro) | |
| 19 | g.41970281C>T | CA406038961 | ATP1A3 | c.2485G>A (p.Ala829Thr) c.2446G>A (p.Ala816Thr) c.2479G>A (p.Ala827Thr) c.2356G>A (p.Ala786Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41970282C>A | CA406038968 | ATP1A3 | c.2484G>T (p.Glu828Asp) c.2445G>T (p.Glu815Asp) c.2478G>T (p.Glu826Asp) c.2355G>T (p.Glu785Asp) | |
| 19 | g.41970282C= | CA2336720780 | ATP1A3 | c.2484G= (p.Glu828=) c.2445G= (p.Glu815=) c.2478G= (p.Glu826=) c.2355G= (p.Glu785=) | |
| 19 | g.41970282C>G | CA406038966 | ATP1A3 | c.2484G>C (p.Glu828Asp) c.2445G>C (p.Glu815Asp) c.2478G>C (p.Glu826Asp) c.2355G>C (p.Glu785Asp) | |
| 19 | g.41970282C>T | CA9467380 | ATP1A3 | c.2484G>A (p.Glu828=) c.2445G>A (p.Glu815=) c.2478G>A (p.Glu826=) c.2355G>A (p.Glu785=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.41970283T>A | CA406038971 | ATP1A3 | c.2483A>T (p.Glu828Val) c.2444A>T (p.Glu815Val) c.2477A>T (p.Glu826Val) c.2354A>T (p.Glu785Val) | |
| 19 | g.41970283T>C | CA406038974 | ATP1A3 | c.2483A>G (p.Glu828Gly) c.2444A>G (p.Glu815Gly) c.2477A>G (p.Glu826Gly) c.2354A>G (p.Glu785Gly) | |
| 19 | g.41970283T>G | CA406038972 | ATP1A3 | c.2483A>C (p.Glu828Ala) c.2444A>C (p.Glu815Ala) c.2477A>C (p.Glu826Ala) c.2354A>C (p.Glu785Ala) | |
| 19 | g.41970284C>A | CA406038975 | ATP1A3 | c.2482G>T (p.Glu828Ter) c.2443G>T (p.Glu815Ter) c.2476G>T (p.Glu826Ter) c.2353G>T (p.Glu785Ter) | |
| 19 | g.41970284C= | CA2336720781 | ATP1A3 | c.2482G= (p.Glu828=) c.2443G= (p.Glu815=) c.2476G= (p.Glu826=) c.2353G= (p.Glu785=) | |
| 19 | g.41970284C>G | CA406038977 | ATP1A3 | c.2482G>C (p.Glu828Gln) c.2443G>C (p.Glu815Gln) c.2476G>C (p.Glu826Gln) c.2353G>C (p.Glu785Gln) | |
| 19 | g.41970284C>T | CA342903 | ATP1A3 | c.2482G>A (p.Glu828Lys) c.2443G>A (p.Glu815Lys) c.2476G>A (p.Glu826Lys) c.2353G>A (p.Glu785Lys) | ClinVar dbSNP COSMIC |
| 19 | g.41970285G>A | CA9467381 | ATP1A3 | c.2481C>T (p.Tyr827=) c.2442C>T (p.Tyr814=) c.2475C>T (p.Tyr825=) c.2352C>T (p.Tyr784=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41970285G>C | CA406038981 | ATP1A3 | c.2481C>G (p.Tyr827Ter) c.2442C>G (p.Tyr814Ter) c.2475C>G (p.Tyr825Ter) c.2352C>G (p.Tyr784Ter) | |
| 19 | g.41970285G= | CA2336720782 | ATP1A3 | c.2481C= (p.Tyr827=) c.2442C= (p.Tyr814=) c.2475C= (p.Tyr825=) c.2352C= (p.Tyr784=) | |
| 19 | g.41970285G>T | CA406038983 | ATP1A3 | c.2481C>A (p.Tyr827Ter) c.2442C>A (p.Tyr814Ter) c.2475C>A (p.Tyr825Ter) c.2352C>A (p.Tyr784Ter) | |
| 19 | g.41970286T>A | CA406038985 | ATP1A3 | c.2480A>T (p.Tyr827Phe) c.2441A>T (p.Tyr814Phe) c.2474A>T (p.Tyr825Phe) c.2351A>T (p.Tyr784Phe) | |
| 19 | g.41970286T>C | CA406038986 | ATP1A3 | c.2480A>G (p.Tyr827Cys) c.2441A>G (p.Tyr814Cys) c.2474A>G (p.Tyr825Cys) c.2351A>G (p.Tyr784Cys) | |
| 19 | g.41970286T>G | CA406038987 | ATP1A3 | c.2480A>C (p.Tyr827Ser) c.2441A>C (p.Tyr814Ser) c.2474A>C (p.Tyr825Ser) c.2351A>C (p.Tyr784Ser) | |
| 19 | g.41970287A>C | CA406038990 | ATP1A3 | c.2479T>G (p.Tyr827Asp) c.2440T>G (p.Tyr814Asp) c.2473T>G (p.Tyr825Asp) c.2350T>G (p.Tyr784Asp) | |
| 19 | g.41970287A>G | CA406038992 | ATP1A3 | c.2479T>C (p.Tyr827His) c.2440T>C (p.Tyr814His) c.2473T>C (p.Tyr825His) c.2350T>C (p.Tyr784His) | |
| 19 | g.41970287A>T | CA406038993 | ATP1A3 | c.2479T>A (p.Tyr827Asn) c.2440T>A (p.Tyr814Asn) c.2473T>A (p.Tyr825Asn) c.2350T>A (p.Tyr784Asn) | |
| 19 | g.41970288C>A | CA507694752 | ATP1A3 | c.2478G>T (p.Ala826=) c.2439G>T (p.Ala813=) c.2472G>T (p.Ala824=) c.2349G>T (p.Ala783=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41970288C= | CA2336720784 | ATP1A3 | c.2478G= (p.Ala826=) c.2439G= (p.Ala813=) c.2472G= (p.Ala824=) c.2349G= (p.Ala783=) | |
| 19 | g.41970288C>G | CA507694753 | ATP1A3 | c.2478G>C (p.Ala826=) c.2439G>C (p.Ala813=) c.2472G>C (p.Ala824=) c.2349G>C (p.Ala783=) | gnomAD v4 |