Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.16989654C= | CA1146982100 | ATP13A2 | c.2609+37G= (n.2609+37G=) c.2477+37G= (n.2477+37G=) c.2594+37G= (n.2594+37G=) n.483+37G= c.197+37G= (n.197+37G=) c.2606+37G= (n.2606+37G=) c.2582+37G= (n.2582+37G=) c.2549+37G= (n.2549+37G=) c.2492+37G= (n.2492+37G=) c.2591+37G= (n.2591+37G=) c.2567+37G= (n.2567+37G=) c.2402+37G= (n.2402+37G=) c.2564+37G= (n.2564+37G=) | |
1 | g.16989654C>T | CA636771 | ATP13A2 | c.2609+37G>A (n.2609+37G>A) c.2477+37G>A (n.2477+37G>A) c.2594+37G>A (n.2594+37G>A) n.483+37G>A c.197+37G>A (n.197+37G>A) c.2606+37G>A (n.2606+37G>A) c.2582+37G>A (n.2582+37G>A) c.2549+37G>A (n.2549+37G>A) c.2492+37G>A (n.2492+37G>A) c.2591+37G>A (n.2591+37G>A) c.2567+37G>A (n.2567+37G>A) c.2402+37G>A (n.2402+37G>A) c.2564+37G>A (n.2564+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16989655G>A | CA636772 | ATP13A2 | c.2609+36C>T (n.2609+36C>T) c.2477+36C>T (n.2477+36C>T) c.2594+36C>T (n.2594+36C>T) n.483+36C>T c.197+36C>T (n.197+36C>T) c.2606+36C>T (n.2606+36C>T) c.2582+36C>T (n.2582+36C>T) c.2549+36C>T (n.2549+36C>T) c.2492+36C>T (n.2492+36C>T) c.2591+36C>T (n.2591+36C>T) c.2567+36C>T (n.2567+36C>T) c.2402+36C>T (n.2402+36C>T) c.2564+36C>T (n.2564+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16989655G>C | CA2643673057 | ATP13A2 | c.2609+36C>G (n.2609+36C>G) c.2477+36C>G (n.2477+36C>G) c.2594+36C>G (n.2594+36C>G) n.483+36C>G c.197+36C>G (n.197+36C>G) c.2606+36C>G (n.2606+36C>G) c.2582+36C>G (n.2582+36C>G) c.2549+36C>G (n.2549+36C>G) c.2492+36C>G (n.2492+36C>G) c.2591+36C>G (n.2591+36C>G) c.2567+36C>G (n.2567+36C>G) c.2402+36C>G (n.2402+36C>G) c.2564+36C>G (n.2564+36C>G) | gnomAD v4 |
1 | g.16989655G= | CA1144109819 | ATP13A2 | c.2609+36C= (n.2609+36C=) c.2477+36C= (n.2477+36C=) c.2594+36C= (n.2594+36C=) n.483+36C= c.197+36C= (n.197+36C=) c.2606+36C= (n.2606+36C=) c.2582+36C= (n.2582+36C=) c.2549+36C= (n.2549+36C=) c.2492+36C= (n.2492+36C=) c.2591+36C= (n.2591+36C=) c.2567+36C= (n.2567+36C=) c.2402+36C= (n.2402+36C=) c.2564+36C= (n.2564+36C=) | |
1 | g.16989655G>T | CA2643673058 | ATP13A2 | c.2609+36C>A (n.2609+36C>A) c.2477+36C>A (n.2477+36C>A) c.2594+36C>A (n.2594+36C>A) n.483+36C>A c.197+36C>A (n.197+36C>A) c.2606+36C>A (n.2606+36C>A) c.2582+36C>A (n.2582+36C>A) c.2549+36C>A (n.2549+36C>A) c.2492+36C>A (n.2492+36C>A) c.2591+36C>A (n.2591+36C>A) c.2567+36C>A (n.2567+36C>A) c.2402+36C>A (n.2402+36C>A) c.2564+36C>A (n.2564+36C>A) | gnomAD v4 |
1 | g.16989656C= | CA1156020944 | ATP13A2 | c.2609+35G= (n.2609+35G=) c.2477+35G= (n.2477+35G=) c.2594+35G= (n.2594+35G=) n.483+35G= c.197+35G= (n.197+35G=) c.2606+35G= (n.2606+35G=) c.2582+35G= (n.2582+35G=) c.2549+35G= (n.2549+35G=) c.2492+35G= (n.2492+35G=) c.2591+35G= (n.2591+35G=) c.2567+35G= (n.2567+35G=) c.2402+35G= (n.2402+35G=) c.2564+35G= (n.2564+35G=) | |
1 | g.16989656C>T | CA18628740 | ATP13A2 | c.2609+35G>A (n.2609+35G>A) c.2477+35G>A (n.2477+35G>A) c.2594+35G>A (n.2594+35G>A) n.483+35G>A c.197+35G>A (n.197+35G>A) c.2606+35G>A (n.2606+35G>A) c.2582+35G>A (n.2582+35G>A) c.2549+35G>A (n.2549+35G>A) c.2492+35G>A (n.2492+35G>A) c.2591+35G>A (n.2591+35G>A) c.2567+35G>A (n.2567+35G>A) c.2402+35G>A (n.2402+35G>A) c.2564+35G>A (n.2564+35G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16989657A>G | CA2643673061 | ATP13A2 | c.2609+34T>C (n.2609+34T>C) c.2477+34T>C (n.2477+34T>C) c.2594+34T>C (n.2594+34T>C) n.483+34T>C c.197+34T>C (n.197+34T>C) c.2606+34T>C (n.2606+34T>C) c.2582+34T>C (n.2582+34T>C) c.2549+34T>C (n.2549+34T>C) c.2492+34T>C (n.2492+34T>C) c.2591+34T>C (n.2591+34T>C) c.2567+34T>C (n.2567+34T>C) c.2402+34T>C (n.2402+34T>C) c.2564+34T>C (n.2564+34T>C) | gnomAD v4 |
1 | g.16989658G>A | CA890931515 | ATP13A2 | c.2609+33C>T (n.2609+33C>T) c.2477+33C>T (n.2477+33C>T) c.2594+33C>T (n.2594+33C>T) n.483+33C>T c.197+33C>T (n.197+33C>T) c.2606+33C>T (n.2606+33C>T) c.2582+33C>T (n.2582+33C>T) c.2549+33C>T (n.2549+33C>T) c.2492+33C>T (n.2492+33C>T) c.2591+33C>T (n.2591+33C>T) c.2567+33C>T (n.2567+33C>T) c.2402+33C>T (n.2402+33C>T) c.2564+33C>T (n.2564+33C>T) | dbSNP |
1 | g.16989658G= | CA1156020948 | ATP13A2 | c.2609+33C= (n.2609+33C=) c.2477+33C= (n.2477+33C=) c.2594+33C= (n.2594+33C=) n.483+33C= c.197+33C= (n.197+33C=) c.2606+33C= (n.2606+33C=) c.2582+33C= (n.2582+33C=) c.2549+33C= (n.2549+33C=) c.2492+33C= (n.2492+33C=) c.2591+33C= (n.2591+33C=) c.2567+33C= (n.2567+33C=) c.2402+33C= (n.2402+33C=) c.2564+33C= (n.2564+33C=) | |
1 | g.16989658G>T | CA2574234725 | ATP13A2 | c.2609+33C>A (n.2609+33C>A) c.2477+33C>A (n.2477+33C>A) c.2594+33C>A (n.2594+33C>A) n.483+33C>A c.197+33C>A (n.197+33C>A) c.2606+33C>A (n.2606+33C>A) c.2582+33C>A (n.2582+33C>A) c.2549+33C>A (n.2549+33C>A) c.2492+33C>A (n.2492+33C>A) c.2591+33C>A (n.2591+33C>A) c.2567+33C>A (n.2567+33C>A) c.2402+33C>A (n.2402+33C>A) c.2564+33C>A (n.2564+33C>A) | |
1 | g.16989659G>T | CA2643673063 | ATP13A2 | c.2609+32C>A (n.2609+32C>A) c.2477+32C>A (n.2477+32C>A) c.2594+32C>A (n.2594+32C>A) n.483+32C>A c.197+32C>A (n.197+32C>A) c.2606+32C>A (n.2606+32C>A) c.2582+32C>A (n.2582+32C>A) c.2549+32C>A (n.2549+32C>A) c.2492+32C>A (n.2492+32C>A) c.2591+32C>A (n.2591+32C>A) c.2567+32C>A (n.2567+32C>A) c.2402+32C>A (n.2402+32C>A) c.2564+32C>A (n.2564+32C>A) | gnomAD v4 |
1 | g.16989660C= | CA1143755134 | ATP13A2 | c.2609+31G= (n.2609+31G=) c.2477+31G= (n.2477+31G=) c.2594+31G= (n.2594+31G=) n.483+31G= c.197+31G= (n.197+31G=) c.2606+31G= (n.2606+31G=) c.2582+31G= (n.2582+31G=) c.2549+31G= (n.2549+31G=) c.2492+31G= (n.2492+31G=) c.2591+31G= (n.2591+31G=) c.2567+31G= (n.2567+31G=) c.2402+31G= (n.2402+31G=) c.2564+31G= (n.2564+31G=) | |
1 | g.16989660C>T | CA636773 | ATP13A2 | c.2609+31G>A (n.2609+31G>A) c.2477+31G>A (n.2477+31G>A) c.2594+31G>A (n.2594+31G>A) n.483+31G>A c.197+31G>A (n.197+31G>A) c.2606+31G>A (n.2606+31G>A) c.2582+31G>A (n.2582+31G>A) c.2549+31G>A (n.2549+31G>A) c.2492+31G>A (n.2492+31G>A) c.2591+31G>A (n.2591+31G>A) c.2567+31G>A (n.2567+31G>A) c.2402+31G>A (n.2402+31G>A) c.2564+31G>A (n.2564+31G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16989661C>T | CA2643673068 | ATP13A2 | c.2609+30G>A (n.2609+30G>A) c.2477+30G>A (n.2477+30G>A) c.2594+30G>A (n.2594+30G>A) n.483+30G>A c.197+30G>A (n.197+30G>A) c.2606+30G>A (n.2606+30G>A) c.2582+30G>A (n.2582+30G>A) c.2549+30G>A (n.2549+30G>A) c.2492+30G>A (n.2492+30G>A) c.2591+30G>A (n.2591+30G>A) c.2567+30G>A (n.2567+30G>A) c.2402+30G>A (n.2402+30G>A) c.2564+30G>A (n.2564+30G>A) | gnomAD v4 |
1 | g.16989662C= | CA1156020952 | ATP13A2 | c.2609+29G= (n.2609+29G=) c.2477+29G= (n.2477+29G=) c.2594+29G= (n.2594+29G=) n.483+29G= c.197+29G= (n.197+29G=) c.2606+29G= (n.2606+29G=) c.2582+29G= (n.2582+29G=) c.2549+29G= (n.2549+29G=) c.2492+29G= (n.2492+29G=) c.2591+29G= (n.2591+29G=) c.2567+29G= (n.2567+29G=) c.2402+29G= (n.2402+29G=) c.2564+29G= (n.2564+29G=) | |
1 | g.16989662C>G | CA1156020953 | ATP13A2 | c.2609+29G>C (n.2609+29G>C) c.2477+29G>C (n.2477+29G>C) c.2594+29G>C (n.2594+29G>C) n.483+29G>C c.197+29G>C (n.197+29G>C) c.2606+29G>C (n.2606+29G>C) c.2582+29G>C (n.2582+29G>C) c.2549+29G>C (n.2549+29G>C) c.2492+29G>C (n.2492+29G>C) c.2591+29G>C (n.2591+29G>C) c.2567+29G>C (n.2567+29G>C) c.2402+29G>C (n.2402+29G>C) c.2564+29G>C (n.2564+29G>C) | dbSNP |
1 | g.16989662C>T | CA521028476 | ATP13A2 | c.2609+29G>A (n.2609+29G>A) c.2477+29G>A (n.2477+29G>A) c.2594+29G>A (n.2594+29G>A) n.483+29G>A c.197+29G>A (n.197+29G>A) c.2606+29G>A (n.2606+29G>A) c.2582+29G>A (n.2582+29G>A) c.2549+29G>A (n.2549+29G>A) c.2492+29G>A (n.2492+29G>A) c.2591+29G>A (n.2591+29G>A) c.2567+29G>A (n.2567+29G>A) c.2402+29G>A (n.2402+29G>A) c.2564+29G>A (n.2564+29G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16989663T>C | CA2574234726 | ATP13A2 | c.2609+28A>G (n.2609+28A>G) c.2477+28A>G (n.2477+28A>G) c.2594+28A>G (n.2594+28A>G) n.483+28A>G c.197+28A>G (n.197+28A>G) c.2606+28A>G (n.2606+28A>G) c.2582+28A>G (n.2582+28A>G) c.2549+28A>G (n.2549+28A>G) c.2492+28A>G (n.2492+28A>G) c.2591+28A>G (n.2591+28A>G) c.2567+28A>G (n.2567+28A>G) c.2402+28A>G (n.2402+28A>G) c.2564+28A>G (n.2564+28A>G) | |
1 | g.16989664T>C | CA521028477 | ATP13A2 | c.2609+27A>G (n.2609+27A>G) c.2477+27A>G (n.2477+27A>G) c.2594+27A>G (n.2594+27A>G) n.483+27A>G c.197+27A>G (n.197+27A>G) c.2606+27A>G (n.2606+27A>G) c.2582+27A>G (n.2582+27A>G) c.2549+27A>G (n.2549+27A>G) c.2492+27A>G (n.2492+27A>G) c.2591+27A>G (n.2591+27A>G) c.2567+27A>G (n.2567+27A>G) c.2402+27A>G (n.2402+27A>G) c.2564+27A>G (n.2564+27A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16989664T= | CA1156020957 | ATP13A2 | c.2609+27A= (n.2609+27A=) c.2477+27A= (n.2477+27A=) c.2594+27A= (n.2594+27A=) n.483+27A= c.197+27A= (n.197+27A=) c.2606+27A= (n.2606+27A=) c.2582+27A= (n.2582+27A=) c.2549+27A= (n.2549+27A=) c.2492+27A= (n.2492+27A=) c.2591+27A= (n.2591+27A=) c.2567+27A= (n.2567+27A=) c.2402+27A= (n.2402+27A=) c.2564+27A= (n.2564+27A=) | |
1 | g.16989665G= | CA1156020960 | ATP13A2 | c.2609+26C= (n.2609+26C=) c.2477+26C= (n.2477+26C=) c.2594+26C= (n.2594+26C=) n.483+26C= c.197+26C= (n.197+26C=) c.2606+26C= (n.2606+26C=) c.2582+26C= (n.2582+26C=) c.2549+26C= (n.2549+26C=) c.2492+26C= (n.2492+26C=) c.2591+26C= (n.2591+26C=) c.2567+26C= (n.2567+26C=) c.2402+26C= (n.2402+26C=) c.2564+26C= (n.2564+26C=) | |
1 | g.16989666C>A | CA2643673073 | ATP13A2 | c.2609+25G>T (n.2609+25G>T) c.2477+25G>T (n.2477+25G>T) c.2594+25G>T (n.2594+25G>T) n.483+25G>T c.197+25G>T (n.197+25G>T) c.2606+25G>T (n.2606+25G>T) c.2582+25G>T (n.2582+25G>T) c.2549+25G>T (n.2549+25G>T) c.2492+25G>T (n.2492+25G>T) c.2591+25G>T (n.2591+25G>T) c.2567+25G>T (n.2567+25G>T) c.2402+25G>T (n.2402+25G>T) c.2564+25G>T (n.2564+25G>T) | gnomAD v4 |
1 | g.16989666C= | CA1156020965 | ATP13A2 | c.2609+25G= (n.2609+25G=) c.2477+25G= (n.2477+25G=) c.2594+25G= (n.2594+25G=) n.483+25G= c.197+25G= (n.197+25G=) c.2606+25G= (n.2606+25G=) c.2582+25G= (n.2582+25G=) c.2549+25G= (n.2549+25G=) c.2492+25G= (n.2492+25G=) c.2591+25G= (n.2591+25G=) c.2567+25G= (n.2567+25G=) c.2402+25G= (n.2402+25G=) c.2564+25G= (n.2564+25G=) | |
1 | g.16989666C>T | CA521028479 | ATP13A2 | c.2609+25G>A (n.2609+25G>A) c.2477+25G>A (n.2477+25G>A) c.2594+25G>A (n.2594+25G>A) n.483+25G>A c.197+25G>A (n.197+25G>A) c.2606+25G>A (n.2606+25G>A) c.2582+25G>A (n.2582+25G>A) c.2549+25G>A (n.2549+25G>A) c.2492+25G>A (n.2492+25G>A) c.2591+25G>A (n.2591+25G>A) c.2567+25G>A (n.2567+25G>A) c.2402+25G>A (n.2402+25G>A) c.2564+25G>A (n.2564+25G>A) | dbSNP gnomAD v2 |
1 | g.16989668dup | CA521028478 | ATP13A2 | c.2609+25dup (n.2609+25dup) c.2477+25dup (n.2477+25dup) c.2594+25dup (n.2594+25dup) n.483+25dup c.197+25dup (n.197+25dup) c.2606+25dup (n.2606+25dup) c.2582+25dup (n.2582+25dup) c.2549+25dup (n.2549+25dup) c.2492+25dup (n.2492+25dup) c.2591+25dup (n.2591+25dup) c.2567+25dup (n.2567+25dup) c.2402+25dup (n.2402+25dup) c.2564+25dup (n.2564+25dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16989667C>A | CA521028480 | ATP13A2 | c.2609+24G>T (n.2609+24G>T) c.2477+24G>T (n.2477+24G>T) c.2594+24G>T (n.2594+24G>T) n.483+24G>T c.197+24G>T (n.197+24G>T) c.2606+24G>T (n.2606+24G>T) c.2582+24G>T (n.2582+24G>T) c.2549+24G>T (n.2549+24G>T) c.2492+24G>T (n.2492+24G>T) c.2591+24G>T (n.2591+24G>T) c.2567+24G>T (n.2567+24G>T) c.2402+24G>T (n.2402+24G>T) c.2564+24G>T (n.2564+24G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16989667C= | CA1156020967 | ATP13A2 | c.2609+24G= (n.2609+24G=) c.2477+24G= (n.2477+24G=) c.2594+24G= (n.2594+24G=) n.483+24G= c.197+24G= (n.197+24G=) c.2606+24G= (n.2606+24G=) c.2582+24G= (n.2582+24G=) c.2549+24G= (n.2549+24G=) c.2492+24G= (n.2492+24G=) c.2591+24G= (n.2591+24G=) c.2567+24G= (n.2567+24G=) c.2402+24G= (n.2402+24G=) c.2564+24G= (n.2564+24G=) | |
1 | g.16989667C>T | CA2643673075 | ATP13A2 | c.2609+24G>A (n.2609+24G>A) c.2477+24G>A (n.2477+24G>A) c.2594+24G>A (n.2594+24G>A) n.483+24G>A c.197+24G>A (n.197+24G>A) c.2606+24G>A (n.2606+24G>A) c.2582+24G>A (n.2582+24G>A) c.2549+24G>A (n.2549+24G>A) c.2492+24G>A (n.2492+24G>A) c.2591+24G>A (n.2591+24G>A) c.2567+24G>A (n.2567+24G>A) c.2402+24G>A (n.2402+24G>A) c.2564+24G>A (n.2564+24G>A) | gnomAD v4 |
1 | g.16989669A>G | CA2643673077 | ATP13A2 | c.2609+22T>C (n.2609+22T>C) c.2477+22T>C (n.2477+22T>C) c.2594+22T>C (n.2594+22T>C) n.483+22T>C c.197+22T>C (n.197+22T>C) c.2606+22T>C (n.2606+22T>C) c.2582+22T>C (n.2582+22T>C) c.2549+22T>C (n.2549+22T>C) c.2492+22T>C (n.2492+22T>C) c.2591+22T>C (n.2591+22T>C) c.2567+22T>C (n.2567+22T>C) c.2402+22T>C (n.2402+22T>C) c.2564+22T>C (n.2564+22T>C) | gnomAD v4 |
1 | g.16989671A>C | CA2574234727 | ATP13A2 | c.2609+20T>G (n.2609+20T>G) c.2477+20T>G (n.2477+20T>G) c.2594+20T>G (n.2594+20T>G) n.483+20T>G c.197+20T>G (n.197+20T>G) c.2606+20T>G (n.2606+20T>G) c.2582+20T>G (n.2582+20T>G) c.2549+20T>G (n.2549+20T>G) c.2492+20T>G (n.2492+20T>G) c.2591+20T>G (n.2591+20T>G) c.2567+20T>G (n.2567+20T>G) c.2402+20T>G (n.2402+20T>G) c.2564+20T>G (n.2564+20T>G) | |
1 | g.16989671A>T | CA2643673078 | ATP13A2 | c.2609+20T>A (n.2609+20T>A) c.2477+20T>A (n.2477+20T>A) c.2594+20T>A (n.2594+20T>A) n.483+20T>A c.197+20T>A (n.197+20T>A) c.2606+20T>A (n.2606+20T>A) c.2582+20T>A (n.2582+20T>A) c.2549+20T>A (n.2549+20T>A) c.2492+20T>A (n.2492+20T>A) c.2591+20T>A (n.2591+20T>A) c.2567+20T>A (n.2567+20T>A) c.2402+20T>A (n.2402+20T>A) c.2564+20T>A (n.2564+20T>A) | gnomAD v4 |
1 | g.16989672C>A | CA521028482 | ATP13A2 | c.2609+19G>T (n.2609+19G>T) c.2477+19G>T (n.2477+19G>T) c.2594+19G>T (n.2594+19G>T) n.483+19G>T c.197+19G>T (n.197+19G>T) c.2606+19G>T (n.2606+19G>T) c.2582+19G>T (n.2582+19G>T) c.2549+19G>T (n.2549+19G>T) c.2492+19G>T (n.2492+19G>T) c.2591+19G>T (n.2591+19G>T) c.2567+19G>T (n.2567+19G>T) c.2402+19G>T (n.2402+19G>T) c.2564+19G>T (n.2564+19G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16989672C= | CA1156020969 | ATP13A2 | c.2609+19G= (n.2609+19G=) c.2477+19G= (n.2477+19G=) c.2594+19G= (n.2594+19G=) n.483+19G= c.197+19G= (n.197+19G=) c.2606+19G= (n.2606+19G=) c.2582+19G= (n.2582+19G=) c.2549+19G= (n.2549+19G=) c.2492+19G= (n.2492+19G=) c.2591+19G= (n.2591+19G=) c.2567+19G= (n.2567+19G=) c.2402+19G= (n.2402+19G=) c.2564+19G= (n.2564+19G=) | |
1 | g.16989672C>T | CA1156020970 | ATP13A2 | c.2609+19G>A (n.2609+19G>A) c.2477+19G>A (n.2477+19G>A) c.2594+19G>A (n.2594+19G>A) n.483+19G>A c.197+19G>A (n.197+19G>A) c.2606+19G>A (n.2606+19G>A) c.2582+19G>A (n.2582+19G>A) c.2549+19G>A (n.2549+19G>A) c.2492+19G>A (n.2492+19G>A) c.2591+19G>A (n.2591+19G>A) c.2567+19G>A (n.2567+19G>A) c.2402+19G>A (n.2402+19G>A) c.2564+19G>A (n.2564+19G>A) | dbSNP |
1 | g.16989675T>A | CA636774 | ATP13A2 | c.2609+16A>T (n.2609+16A>T) c.2477+16A>T (n.2477+16A>T) c.2594+16A>T (n.2594+16A>T) n.483+16A>T c.197+16A>T (n.197+16A>T) c.2606+16A>T (n.2606+16A>T) c.2582+16A>T (n.2582+16A>T) c.2549+16A>T (n.2549+16A>T) c.2492+16A>T (n.2492+16A>T) c.2591+16A>T (n.2591+16A>T) c.2567+16A>T (n.2567+16A>T) c.2402+16A>T (n.2402+16A>T) c.2564+16A>T (n.2564+16A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16989675T= | CA1156020973 | ATP13A2 | c.2609+16A= (n.2609+16A=) c.2477+16A= (n.2477+16A=) c.2594+16A= (n.2594+16A=) n.483+16A= c.197+16A= (n.197+16A=) c.2606+16A= (n.2606+16A=) c.2582+16A= (n.2582+16A=) c.2549+16A= (n.2549+16A=) c.2492+16A= (n.2492+16A=) c.2591+16A= (n.2591+16A=) c.2567+16A= (n.2567+16A=) c.2402+16A= (n.2402+16A=) c.2564+16A= (n.2564+16A=) | |
1 | g.16989676C>T | CA2742637061 | ATP13A2 | c.2609+15G>A (n.2609+15G>A) c.2477+15G>A (n.2477+15G>A) c.2594+15G>A (n.2594+15G>A) n.483+15G>A c.197+15G>A (n.197+15G>A) c.2606+15G>A (n.2606+15G>A) c.2582+15G>A (n.2582+15G>A) c.2549+15G>A (n.2549+15G>A) c.2492+15G>A (n.2492+15G>A) c.2591+15G>A (n.2591+15G>A) c.2567+15G>A (n.2567+15G>A) c.2402+15G>A (n.2402+15G>A) c.2564+15G>A (n.2564+15G>A) | |
1 | g.16989677T>A | CA2643673087 | ATP13A2 | c.2609+14A>T (n.2609+14A>T) c.2477+14A>T (n.2477+14A>T) c.2594+14A>T (n.2594+14A>T) n.483+14A>T c.197+14A>T (n.197+14A>T) c.2606+14A>T (n.2606+14A>T) c.2582+14A>T (n.2582+14A>T) c.2549+14A>T (n.2549+14A>T) c.2492+14A>T (n.2492+14A>T) c.2591+14A>T (n.2591+14A>T) c.2567+14A>T (n.2567+14A>T) c.2402+14A>T (n.2402+14A>T) c.2564+14A>T (n.2564+14A>T) | gnomAD v4 |
1 | g.16989677T>G | CA2643673088 | ATP13A2 | c.2609+14A>C (n.2609+14A>C) c.2477+14A>C (n.2477+14A>C) c.2594+14A>C (n.2594+14A>C) n.483+14A>C c.197+14A>C (n.197+14A>C) c.2606+14A>C (n.2606+14A>C) c.2582+14A>C (n.2582+14A>C) c.2549+14A>C (n.2549+14A>C) c.2492+14A>C (n.2492+14A>C) c.2591+14A>C (n.2591+14A>C) c.2567+14A>C (n.2567+14A>C) c.2402+14A>C (n.2402+14A>C) c.2564+14A>C (n.2564+14A>C) | gnomAD v4 |
1 | g.16989677T= | CA1156020976 | ATP13A2 | c.2609+14A= (n.2609+14A=) c.2477+14A= (n.2477+14A=) c.2594+14A= (n.2594+14A=) n.483+14A= c.197+14A= (n.197+14A=) c.2606+14A= (n.2606+14A=) c.2582+14A= (n.2582+14A=) c.2549+14A= (n.2549+14A=) c.2492+14A= (n.2492+14A=) c.2591+14A= (n.2591+14A=) c.2567+14A= (n.2567+14A=) c.2402+14A= (n.2402+14A=) c.2564+14A= (n.2564+14A=) | |
1 | g.16989678_16989679insAAG | CA1156020978 | ATP13A2 | c.2609+13_2609+14insTTC (n.2609+13_2609+14insTTC) c.2477+13_2477+14insTTC (n.2477+13_2477+14insTTC) c.2594+13_2594+14insTTC (n.2594+13_2594+14insTTC) n.483+13_483+14insTTC c.197+13_197+14insTTC (n.197+13_197+14insTTC) c.2606+13_2606+14insTTC (n.2606+13_2606+14insTTC) c.2582+13_2582+14insTTC (n.2582+13_2582+14insTTC) c.2549+13_2549+14insTTC (n.2549+13_2549+14insTTC) c.2492+13_2492+14insTTC (n.2492+13_2492+14insTTC) c.2591+13_2591+14insTTC (n.2591+13_2591+14insTTC) c.2567+13_2567+14insTTC (n.2567+13_2567+14insTTC) c.2402+13_2402+14insTTC (n.2402+13_2402+14insTTC) c.2564+13_2564+14insTTC (n.2564+13_2564+14insTTC) | dbSNP gnomAD v4 |
1 | g.16989679C= | CA1156020980 | ATP13A2 | c.2609+12G= (n.2609+12G=) c.2477+12G= (n.2477+12G=) c.2594+12G= (n.2594+12G=) n.483+12G= c.197+12G= (n.197+12G=) c.2606+12G= (n.2606+12G=) c.2582+12G= (n.2582+12G=) c.2549+12G= (n.2549+12G=) c.2492+12G= (n.2492+12G=) c.2591+12G= (n.2591+12G=) c.2567+12G= (n.2567+12G=) c.2402+12G= (n.2402+12G=) c.2564+12G= (n.2564+12G=) | |
1 | g.16989679C>G | CA521028483 | ATP13A2 | c.2609+12G>C (n.2609+12G>C) c.2477+12G>C (n.2477+12G>C) c.2594+12G>C (n.2594+12G>C) n.483+12G>C c.197+12G>C (n.197+12G>C) c.2606+12G>C (n.2606+12G>C) c.2582+12G>C (n.2582+12G>C) c.2549+12G>C (n.2549+12G>C) c.2492+12G>C (n.2492+12G>C) c.2591+12G>C (n.2591+12G>C) c.2567+12G>C (n.2567+12G>C) c.2402+12G>C (n.2402+12G>C) c.2564+12G>C (n.2564+12G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16989680C>A | CA1156020982 | ATP13A2 | c.2609+11G>T (n.2609+11G>T) c.2477+11G>T (n.2477+11G>T) c.2594+11G>T (n.2594+11G>T) n.483+11G>T c.197+11G>T (n.197+11G>T) c.2606+11G>T (n.2606+11G>T) c.2582+11G>T (n.2582+11G>T) c.2549+11G>T (n.2549+11G>T) c.2492+11G>T (n.2492+11G>T) c.2591+11G>T (n.2591+11G>T) c.2567+11G>T (n.2567+11G>T) c.2402+11G>T (n.2402+11G>T) c.2564+11G>T (n.2564+11G>T) | dbSNP |
1 | g.16989680C= | CA1156020981 | ATP13A2 | c.2609+11G= (n.2609+11G=) c.2477+11G= (n.2477+11G=) c.2594+11G= (n.2594+11G=) n.483+11G= c.197+11G= (n.197+11G=) c.2606+11G= (n.2606+11G=) c.2582+11G= (n.2582+11G=) c.2549+11G= (n.2549+11G=) c.2492+11G= (n.2492+11G=) c.2591+11G= (n.2591+11G=) c.2567+11G= (n.2567+11G=) c.2402+11G= (n.2402+11G=) c.2564+11G= (n.2564+11G=) | |
1 | g.16989680C>T | CA636775 | ATP13A2 | c.2609+11G>A (n.2609+11G>A) c.2477+11G>A (n.2477+11G>A) c.2594+11G>A (n.2594+11G>A) n.483+11G>A c.197+11G>A (n.197+11G>A) c.2606+11G>A (n.2606+11G>A) c.2582+11G>A (n.2582+11G>A) c.2549+11G>A (n.2549+11G>A) c.2492+11G>A (n.2492+11G>A) c.2591+11G>A (n.2591+11G>A) c.2567+11G>A (n.2567+11G>A) c.2402+11G>A (n.2402+11G>A) c.2564+11G>A (n.2564+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16989681G>A | CA636776 | ATP13A2 | c.2609+10C>T (n.2609+10C>T) c.2477+10C>T (n.2477+10C>T) c.2594+10C>T (n.2594+10C>T) n.483+10C>T c.197+10C>T (n.197+10C>T) c.2606+10C>T (n.2606+10C>T) c.2582+10C>T (n.2582+10C>T) c.2549+10C>T (n.2549+10C>T) c.2492+10C>T (n.2492+10C>T) c.2591+10C>T (n.2591+10C>T) c.2567+10C>T (n.2567+10C>T) c.2402+10C>T (n.2402+10C>T) c.2564+10C>T (n.2564+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16989681G>C | CA2742637062 | ATP13A2 | c.2609+10C>G (n.2609+10C>G) c.2477+10C>G (n.2477+10C>G) c.2594+10C>G (n.2594+10C>G) n.483+10C>G c.197+10C>G (n.197+10C>G) c.2606+10C>G (n.2606+10C>G) c.2582+10C>G (n.2582+10C>G) c.2549+10C>G (n.2549+10C>G) c.2492+10C>G (n.2492+10C>G) c.2591+10C>G (n.2591+10C>G) c.2567+10C>G (n.2567+10C>G) c.2402+10C>G (n.2402+10C>G) c.2564+10C>G (n.2564+10C>G) | |
1 | g.16989681G= | CA1156020985 | ATP13A2 | c.2609+10C= (n.2609+10C=) c.2477+10C= (n.2477+10C=) c.2594+10C= (n.2594+10C=) n.483+10C= c.197+10C= (n.197+10C=) c.2606+10C= (n.2606+10C=) c.2582+10C= (n.2582+10C=) c.2549+10C= (n.2549+10C=) c.2492+10C= (n.2492+10C=) c.2591+10C= (n.2591+10C=) c.2567+10C= (n.2567+10C=) c.2402+10C= (n.2402+10C=) c.2564+10C= (n.2564+10C=) | |
1 | g.16989681G>T | CA2563243031 | ATP13A2 | c.2609+10C>A (n.2609+10C>A) c.2477+10C>A (n.2477+10C>A) c.2594+10C>A (n.2594+10C>A) n.483+10C>A c.197+10C>A (n.197+10C>A) c.2606+10C>A (n.2606+10C>A) c.2582+10C>A (n.2582+10C>A) c.2549+10C>A (n.2549+10C>A) c.2492+10C>A (n.2492+10C>A) c.2591+10C>A (n.2591+10C>A) c.2567+10C>A (n.2567+10C>A) c.2402+10C>A (n.2402+10C>A) c.2564+10C>A (n.2564+10C>A) | |
1 | g.16989683G>A | CA521028486 | ATP13A2 | c.2609+8C>T (n.2609+8C>T) c.2477+8C>T (n.2477+8C>T) c.2594+8C>T (n.2594+8C>T) n.483+8C>T c.197+8C>T (n.197+8C>T) c.2606+8C>T (n.2606+8C>T) c.2582+8C>T (n.2582+8C>T) c.2549+8C>T (n.2549+8C>T) c.2492+8C>T (n.2492+8C>T) c.2591+8C>T (n.2591+8C>T) c.2567+8C>T (n.2567+8C>T) c.2402+8C>T (n.2402+8C>T) c.2564+8C>T (n.2564+8C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16989683G= | CA1156020988 | ATP13A2 | c.2609+8C= (n.2609+8C=) c.2477+8C= (n.2477+8C=) c.2594+8C= (n.2594+8C=) n.483+8C= c.197+8C= (n.197+8C=) c.2606+8C= (n.2606+8C=) c.2582+8C= (n.2582+8C=) c.2549+8C= (n.2549+8C=) c.2492+8C= (n.2492+8C=) c.2591+8C= (n.2591+8C=) c.2567+8C= (n.2567+8C=) c.2402+8C= (n.2402+8C=) c.2564+8C= (n.2564+8C=) | |
1 | g.16989684C>A | CA2643673092 | ATP13A2 | c.2609+7G>T (n.2609+7G>T) c.2477+7G>T (n.2477+7G>T) c.2594+7G>T (n.2594+7G>T) n.483+7G>T c.197+7G>T (n.197+7G>T) c.2606+7G>T (n.2606+7G>T) c.2582+7G>T (n.2582+7G>T) c.2549+7G>T (n.2549+7G>T) c.2492+7G>T (n.2492+7G>T) c.2591+7G>T (n.2591+7G>T) c.2567+7G>T (n.2567+7G>T) c.2402+7G>T (n.2402+7G>T) c.2564+7G>T (n.2564+7G>T) | gnomAD v4 |
1 | g.16989685A>T | CA2643673093 | ATP13A2 | c.2609+6T>A (n.2609+6T>A) c.2477+6T>A (n.2477+6T>A) c.2594+6T>A (n.2594+6T>A) n.483+6T>A c.197+6T>A (n.197+6T>A) c.2606+6T>A (n.2606+6T>A) c.2582+6T>A (n.2582+6T>A) c.2549+6T>A (n.2549+6T>A) c.2492+6T>A (n.2492+6T>A) c.2591+6T>A (n.2591+6T>A) c.2567+6T>A (n.2567+6T>A) c.2402+6T>A (n.2402+6T>A) c.2564+6T>A (n.2564+6T>A) | gnomAD v4 |
1 | g.16989686C>T | CA2643673094 | ATP13A2 | c.2609+5G>A (n.2609+5G>A) c.2477+5G>A (n.2477+5G>A) c.2594+5G>A (n.2594+5G>A) n.483+5G>A c.197+5G>A (n.197+5G>A) c.2606+5G>A (n.2606+5G>A) c.2582+5G>A (n.2582+5G>A) c.2549+5G>A (n.2549+5G>A) c.2492+5G>A (n.2492+5G>A) c.2591+5G>A (n.2591+5G>A) c.2567+5G>A (n.2567+5G>A) c.2402+5G>A (n.2402+5G>A) c.2564+5G>A (n.2564+5G>A) | gnomAD v4 |
1 | g.16989688C>G | CA2643673097 | ATP13A2 | c.2609+3G>C (n.2609+3G>C) c.2477+3G>C (n.2477+3G>C) c.2594+3G>C (n.2594+3G>C) n.483+3G>C c.197+3G>C (n.197+3G>C) c.2606+3G>C (n.2606+3G>C) c.2582+3G>C (n.2582+3G>C) c.2549+3G>C (n.2549+3G>C) c.2492+3G>C (n.2492+3G>C) c.2591+3G>C (n.2591+3G>C) c.2567+3G>C (n.2567+3G>C) c.2402+3G>C (n.2402+3G>C) c.2564+3G>C (n.2564+3G>C) | gnomAD v4 |
1 | g.16989688C>T | CA2643673099 | ATP13A2 | c.2609+3G>A (n.2609+3G>A) c.2477+3G>A (n.2477+3G>A) c.2594+3G>A (n.2594+3G>A) n.483+3G>A c.197+3G>A (n.197+3G>A) c.2606+3G>A (n.2606+3G>A) c.2582+3G>A (n.2582+3G>A) c.2549+3G>A (n.2549+3G>A) c.2492+3G>A (n.2492+3G>A) c.2591+3G>A (n.2591+3G>A) c.2567+3G>A (n.2567+3G>A) c.2402+3G>A (n.2402+3G>A) c.2564+3G>A (n.2564+3G>A) | gnomAD v4 |
1 | g.16989689A>C | CA338239111 | ATP13A2 | c.2609+2T>G (n.2609+2T>G) c.2477+2T>G (n.2477+2T>G) c.2594+2T>G (n.2594+2T>G) n.483+2T>G c.197+2T>G (n.197+2T>G) c.2606+2T>G (n.2606+2T>G) c.2582+2T>G (n.2582+2T>G) c.2549+2T>G (n.2549+2T>G) c.2492+2T>G (n.2492+2T>G) c.2591+2T>G (n.2591+2T>G) c.2567+2T>G (n.2567+2T>G) c.2402+2T>G (n.2402+2T>G) c.2564+2T>G (n.2564+2T>G) | |
1 | g.16989689A>G | CA338239113 | ATP13A2 | c.2609+2T>C (n.2609+2T>C) c.2477+2T>C (n.2477+2T>C) c.2594+2T>C (n.2594+2T>C) n.483+2T>C c.197+2T>C (n.197+2T>C) c.2606+2T>C (n.2606+2T>C) c.2582+2T>C (n.2582+2T>C) c.2549+2T>C (n.2549+2T>C) c.2492+2T>C (n.2492+2T>C) c.2591+2T>C (n.2591+2T>C) c.2567+2T>C (n.2567+2T>C) c.2402+2T>C (n.2402+2T>C) c.2564+2T>C (n.2564+2T>C) | gnomAD v4 |
1 | g.16989689A>T | CA338239114 | ATP13A2 | c.2609+2T>A (n.2609+2T>A) c.2477+2T>A (n.2477+2T>A) c.2594+2T>A (n.2594+2T>A) n.483+2T>A c.197+2T>A (n.197+2T>A) c.2606+2T>A (n.2606+2T>A) c.2582+2T>A (n.2582+2T>A) c.2549+2T>A (n.2549+2T>A) c.2492+2T>A (n.2492+2T>A) c.2591+2T>A (n.2591+2T>A) c.2567+2T>A (n.2567+2T>A) c.2402+2T>A (n.2402+2T>A) c.2564+2T>A (n.2564+2T>A) | |
1 | g.16989690C>A | CA338239118 | ATP13A2 | c.2609+1G>T (n.2609+1G>T) c.2477+1G>T (n.2477+1G>T) c.2594+1G>T (n.2594+1G>T) n.483+1G>T c.197+1G>T (n.197+1G>T) c.2606+1G>T (n.2606+1G>T) c.2582+1G>T (n.2582+1G>T) c.2549+1G>T (n.2549+1G>T) c.2492+1G>T (n.2492+1G>T) c.2591+1G>T (n.2591+1G>T) c.2567+1G>T (n.2567+1G>T) c.2402+1G>T (n.2402+1G>T) c.2564+1G>T (n.2564+1G>T) | |
1 | g.16989690C>G | CA338239120 | ATP13A2 | c.2609+1G>C (n.2609+1G>C) c.2477+1G>C (n.2477+1G>C) c.2594+1G>C (n.2594+1G>C) n.483+1G>C c.197+1G>C (n.197+1G>C) c.2606+1G>C (n.2606+1G>C) c.2582+1G>C (n.2582+1G>C) c.2549+1G>C (n.2549+1G>C) c.2492+1G>C (n.2492+1G>C) c.2591+1G>C (n.2591+1G>C) c.2567+1G>C (n.2567+1G>C) c.2402+1G>C (n.2402+1G>C) c.2564+1G>C (n.2564+1G>C) | gnomAD v4 |
1 | g.16989690C>T | CA338239127 | ATP13A2 | c.2609+1G>A (n.2609+1G>A) c.2477+1G>A (n.2477+1G>A) c.2594+1G>A (n.2594+1G>A) n.483+1G>A c.197+1G>A (n.197+1G>A) c.2606+1G>A (n.2606+1G>A) c.2582+1G>A (n.2582+1G>A) c.2549+1G>A (n.2549+1G>A) c.2492+1G>A (n.2492+1G>A) c.2591+1G>A (n.2591+1G>A) c.2567+1G>A (n.2567+1G>A) c.2402+1G>A (n.2402+1G>A) c.2564+1G>A (n.2564+1G>A) | gnomAD v4 |
1 | g.16989691T>A | CA338239134 | ATP13A2 | c.2609A>T (p.Gln870Leu) c.2477A>T (p.Gln826Leu) c.2594A>T (p.Gln865Leu) n.483A>T c.197A>T (p.Gln66Leu) c.2606A>T (p.Gln869Leu) c.2582A>T (p.Gln861Leu) c.2549A>T (p.Gln850Leu) c.2492A>T (p.Gln831Leu) c.2591A>T (p.Gln864Leu) c.2567A>T (p.Gln856Leu) c.2402A>T (p.Gln801Leu) c.2564A>T (p.Gln855Leu) | |
1 | g.16989691T>C | CA338239133 | ATP13A2 | c.2609A>G (p.Gln870Arg) c.2477A>G (p.Gln826Arg) c.2594A>G (p.Gln865Arg) n.483A>G c.197A>G (p.Gln66Arg) c.2606A>G (p.Gln869Arg) c.2582A>G (p.Gln861Arg) c.2549A>G (p.Gln850Arg) c.2492A>G (p.Gln831Arg) c.2591A>G (p.Gln864Arg) c.2567A>G (p.Gln856Arg) c.2402A>G (p.Gln801Arg) c.2564A>G (p.Gln855Arg) | |
1 | g.16989691T>G | CA338239131 | ATP13A2 | c.2609A>C (p.Gln870Pro) c.2477A>C (p.Gln826Pro) c.2594A>C (p.Gln865Pro) n.483A>C c.197A>C (p.Gln66Pro) c.2606A>C (p.Gln869Pro) c.2582A>C (p.Gln861Pro) c.2549A>C (p.Gln850Pro) c.2492A>C (p.Gln831Pro) c.2591A>C (p.Gln864Pro) c.2567A>C (p.Gln856Pro) c.2402A>C (p.Gln801Pro) c.2564A>C (p.Gln855Pro) | |
1 | g.16989692G>A | CA338239135 | ATP13A2 | c.2608C>T (p.Gln870Ter) c.2476C>T (p.Gln826Ter) c.2593C>T (p.Gln865Ter) n.482C>T c.196C>T (p.Gln66Ter) c.2605C>T (p.Gln869Ter) c.2581C>T (p.Gln861Ter) c.2548C>T (p.Gln850Ter) c.2491C>T (p.Gln831Ter) c.2590C>T (p.Gln864Ter) c.2566C>T (p.Gln856Ter) c.2401C>T (p.Gln801Ter) c.2563C>T (p.Gln855Ter) | |
1 | g.16989692G>C | CA338239136 | ATP13A2 | c.2608C>G (p.Gln870Glu) c.2476C>G (p.Gln826Glu) c.2593C>G (p.Gln865Glu) n.482C>G c.196C>G (p.Gln66Glu) c.2605C>G (p.Gln869Glu) c.2581C>G (p.Gln861Glu) c.2548C>G (p.Gln850Glu) c.2491C>G (p.Gln831Glu) c.2590C>G (p.Gln864Glu) c.2566C>G (p.Gln856Glu) c.2401C>G (p.Gln801Glu) c.2563C>G (p.Gln855Glu) | |
1 | g.16989692G>T | CA338239139 | ATP13A2 | c.2608C>A (p.Gln870Lys) c.2476C>A (p.Gln826Lys) c.2593C>A (p.Gln865Lys) n.482C>A c.196C>A (p.Gln66Lys) c.2605C>A (p.Gln869Lys) c.2581C>A (p.Gln861Lys) c.2548C>A (p.Gln850Lys) c.2491C>A (p.Gln831Lys) c.2590C>A (p.Gln864Lys) c.2566C>A (p.Gln856Lys) c.2401C>A (p.Gln801Lys) c.2563C>A (p.Gln855Lys) | gnomAD v4 |
1 | g.16989693A>C | CA416056445 | ATP13A2 | c.2607T>G (p.Leu869=) c.2475T>G (p.Leu825=) c.2592T>G (p.Leu864=) n.481T>G c.195T>G (p.Leu65=) c.2604T>G (p.Leu868=) c.2580T>G (p.Leu860=) c.2547T>G (p.Leu849=) c.2490T>G (p.Leu830=) c.2589T>G (p.Leu863=) c.2565T>G (p.Leu855=) c.2400T>G (p.Leu800=) c.2562T>G (p.Leu854=) | |
1 | g.16989693A>G | CA416056448 | ATP13A2 | c.2607T>C (p.Leu869=) c.2475T>C (p.Leu825=) c.2592T>C (p.Leu864=) n.481T>C c.195T>C (p.Leu65=) c.2604T>C (p.Leu868=) c.2580T>C (p.Leu860=) c.2547T>C (p.Leu849=) c.2490T>C (p.Leu830=) c.2589T>C (p.Leu863=) c.2565T>C (p.Leu855=) c.2400T>C (p.Leu800=) c.2562T>C (p.Leu854=) | |
1 | g.16989693A>T | CA416056449 | ATP13A2 | c.2607T>A (p.Leu869=) c.2475T>A (p.Leu825=) c.2592T>A (p.Leu864=) n.481T>A c.195T>A (p.Leu65=) c.2604T>A (p.Leu868=) c.2580T>A (p.Leu860=) c.2547T>A (p.Leu849=) c.2490T>A (p.Leu830=) c.2589T>A (p.Leu863=) c.2565T>A (p.Leu855=) c.2400T>A (p.Leu800=) c.2562T>A (p.Leu854=) | |
1 | g.16989694A>C | CA338239145 | ATP13A2 | c.2606T>G (p.Leu869Arg) c.2474T>G (p.Leu825Arg) c.2591T>G (p.Leu864Arg) n.480T>G c.194T>G (p.Leu65Arg) c.2603T>G (p.Leu868Arg) c.2579T>G (p.Leu860Arg) c.2546T>G (p.Leu849Arg) c.2489T>G (p.Leu830Arg) c.2588T>G (p.Leu863Arg) c.2564T>G (p.Leu855Arg) c.2399T>G (p.Leu800Arg) c.2561T>G (p.Leu854Arg) | |
1 | g.16989694A>G | CA338239148 | ATP13A2 | c.2606T>C (p.Leu869Pro) c.2474T>C (p.Leu825Pro) c.2591T>C (p.Leu864Pro) n.480T>C c.194T>C (p.Leu65Pro) c.2603T>C (p.Leu868Pro) c.2579T>C (p.Leu860Pro) c.2546T>C (p.Leu849Pro) c.2489T>C (p.Leu830Pro) c.2588T>C (p.Leu863Pro) c.2564T>C (p.Leu855Pro) c.2399T>C (p.Leu800Pro) c.2561T>C (p.Leu854Pro) | |
1 | g.16989694A>T | CA338239149 | ATP13A2 | c.2606T>A (p.Leu869His) c.2474T>A (p.Leu825His) c.2591T>A (p.Leu864His) n.480T>A c.194T>A (p.Leu65His) c.2603T>A (p.Leu868His) c.2579T>A (p.Leu860His) c.2546T>A (p.Leu849His) c.2489T>A (p.Leu830His) c.2588T>A (p.Leu863His) c.2564T>A (p.Leu855His) c.2399T>A (p.Leu800His) c.2561T>A (p.Leu854His) | |
1 | g.16989695G>A | CA338239158 | ATP13A2 | c.2605C>T (p.Leu869Phe) c.2473C>T (p.Leu825Phe) c.2590C>T (p.Leu864Phe) n.479C>T c.193C>T (p.Leu65Phe) c.2602C>T (p.Leu868Phe) c.2578C>T (p.Leu860Phe) c.2545C>T (p.Leu849Phe) c.2488C>T (p.Leu830Phe) c.2587C>T (p.Leu863Phe) c.2563C>T (p.Leu855Phe) c.2398C>T (p.Leu800Phe) c.2560C>T (p.Leu854Phe) | |
1 | g.16989695G>C | CA338239153 | ATP13A2 | c.2605C>G (p.Leu869Val) c.2473C>G (p.Leu825Val) c.2590C>G (p.Leu864Val) n.479C>G c.193C>G (p.Leu65Val) c.2602C>G (p.Leu868Val) c.2578C>G (p.Leu860Val) c.2545C>G (p.Leu849Val) c.2488C>G (p.Leu830Val) c.2587C>G (p.Leu863Val) c.2563C>G (p.Leu855Val) c.2398C>G (p.Leu800Val) c.2560C>G (p.Leu854Val) | |
1 | g.16989695G>T | CA338239155 | ATP13A2 | c.2605C>A (p.Leu869Ile) c.2473C>A (p.Leu825Ile) c.2590C>A (p.Leu864Ile) n.479C>A c.193C>A (p.Leu65Ile) c.2602C>A (p.Leu868Ile) c.2578C>A (p.Leu860Ile) c.2545C>A (p.Leu849Ile) c.2488C>A (p.Leu830Ile) c.2587C>A (p.Leu863Ile) c.2563C>A (p.Leu855Ile) c.2398C>A (p.Leu800Ile) c.2560C>A (p.Leu854Ile) | |
1 | g.16989696C>A | CA338239160 | ATP13A2 | c.2604G>T (p.Lys868Asn) c.2472G>T (p.Lys824Asn) c.2589G>T (p.Lys863Asn) n.478G>T c.192G>T (p.Lys64Asn) c.2601G>T (p.Lys867Asn) c.2577G>T (p.Lys859Asn) c.2544G>T (p.Lys848Asn) c.2487G>T (p.Lys829Asn) c.2586G>T (p.Lys862Asn) c.2562G>T (p.Lys854Asn) c.2397G>T (p.Lys799Asn) c.2559G>T (p.Lys853Asn) | |
1 | g.16989696C= | CA1156020991 | ATP13A2 | c.2604G= (p.Lys868=) c.2472G= (p.Lys824=) c.2589G= (p.Lys863=) n.478G= c.192G= (p.Lys64=) c.2601G= (p.Lys867=) c.2577G= (p.Lys859=) c.2544G= (p.Lys848=) c.2487G= (p.Lys829=) c.2586G= (p.Lys862=) c.2562G= (p.Lys854=) c.2397G= (p.Lys799=) c.2559G= (p.Lys853=) | |
1 | g.16989696C>G | CA338239164 | ATP13A2 | c.2604G>C (p.Lys868Asn) c.2472G>C (p.Lys824Asn) c.2589G>C (p.Lys863Asn) n.478G>C c.192G>C (p.Lys64Asn) c.2601G>C (p.Lys867Asn) c.2577G>C (p.Lys859Asn) c.2544G>C (p.Lys848Asn) c.2487G>C (p.Lys829Asn) c.2586G>C (p.Lys862Asn) c.2562G>C (p.Lys854Asn) c.2397G>C (p.Lys799Asn) c.2559G>C (p.Lys853Asn) | |
1 | g.16989696C>T | CA416056467 | ATP13A2 | c.2604G>A (p.Lys868=) c.2472G>A (p.Lys824=) c.2589G>A (p.Lys863=) n.478G>A c.192G>A (p.Lys64=) c.2601G>A (p.Lys867=) c.2577G>A (p.Lys859=) c.2544G>A (p.Lys848=) c.2487G>A (p.Lys829=) c.2586G>A (p.Lys862=) c.2562G>A (p.Lys854=) c.2397G>A (p.Lys799=) c.2559G>A (p.Lys853=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16989697T>A | CA338239167 | ATP13A2 | c.2603A>T (p.Lys868Met) c.2471A>T (p.Lys824Met) c.2588A>T (p.Lys863Met) n.477A>T c.191A>T (p.Lys64Met) c.2600A>T (p.Lys867Met) c.2576A>T (p.Lys859Met) c.2543A>T (p.Lys848Met) c.2486A>T (p.Lys829Met) c.2585A>T (p.Lys862Met) c.2561A>T (p.Lys854Met) c.2396A>T (p.Lys799Met) c.2558A>T (p.Lys853Met) | |
1 | g.16989697T>C | CA338239169 | ATP13A2 | c.2603A>G (p.Lys868Arg) c.2471A>G (p.Lys824Arg) c.2588A>G (p.Lys863Arg) n.477A>G c.191A>G (p.Lys64Arg) c.2600A>G (p.Lys867Arg) c.2576A>G (p.Lys859Arg) c.2543A>G (p.Lys848Arg) c.2486A>G (p.Lys829Arg) c.2585A>G (p.Lys862Arg) c.2561A>G (p.Lys854Arg) c.2396A>G (p.Lys799Arg) c.2558A>G (p.Lys853Arg) | |
1 | g.16989697T>G | CA338239173 | ATP13A2 | c.2603A>C (p.Lys868Thr) c.2471A>C (p.Lys824Thr) c.2588A>C (p.Lys863Thr) n.477A>C c.191A>C (p.Lys64Thr) c.2600A>C (p.Lys867Thr) c.2576A>C (p.Lys859Thr) c.2543A>C (p.Lys848Thr) c.2486A>C (p.Lys829Thr) c.2585A>C (p.Lys862Thr) c.2561A>C (p.Lys854Thr) c.2396A>C (p.Lys799Thr) c.2558A>C (p.Lys853Thr) | |
1 | g.16989698T>A | CA338239177 | ATP13A2 | c.2602A>T (p.Lys868Ter) c.2470A>T (p.Lys824Ter) c.2587A>T (p.Lys863Ter) n.476A>T c.190A>T (p.Lys64Ter) c.2599A>T (p.Lys867Ter) c.2575A>T (p.Lys859Ter) c.2542A>T (p.Lys848Ter) c.2485A>T (p.Lys829Ter) c.2584A>T (p.Lys862Ter) c.2560A>T (p.Lys854Ter) c.2395A>T (p.Lys799Ter) c.2557A>T (p.Lys853Ter) | |
1 | g.16989698T>C | CA338239184 | ATP13A2 | c.2602A>G (p.Lys868Glu) c.2470A>G (p.Lys824Glu) c.2587A>G (p.Lys863Glu) n.476A>G c.190A>G (p.Lys64Glu) c.2599A>G (p.Lys867Glu) c.2575A>G (p.Lys859Glu) c.2542A>G (p.Lys848Glu) c.2485A>G (p.Lys829Glu) c.2584A>G (p.Lys862Glu) c.2560A>G (p.Lys854Glu) c.2395A>G (p.Lys799Glu) c.2557A>G (p.Lys853Glu) | |
1 | g.16989698T>G | CA338239181 | ATP13A2 | c.2602A>C (p.Lys868Gln) c.2470A>C (p.Lys824Gln) c.2587A>C (p.Lys863Gln) n.476A>C c.190A>C (p.Lys64Gln) c.2599A>C (p.Lys867Gln) c.2575A>C (p.Lys859Gln) c.2542A>C (p.Lys848Gln) c.2485A>C (p.Lys829Gln) c.2584A>C (p.Lys862Gln) c.2560A>C (p.Lys854Gln) c.2395A>C (p.Lys799Gln) c.2557A>C (p.Lys853Gln) | |
1 | g.16989699C>A | CA338239187 | ATP13A2 | c.2601G>T (p.Gln867His) c.2469G>T (p.Gln823His) c.2586G>T (p.Gln862His) n.475G>T c.189G>T (p.Gln63His) c.2598G>T (p.Gln866His) c.2574G>T (p.Gln858His) c.2541G>T (p.Gln847His) c.2484G>T (p.Gln828His) c.2583G>T (p.Gln861His) c.2559G>T (p.Gln853His) c.2394G>T (p.Gln798His) c.2556G>T (p.Gln852His) | |
1 | g.16989699C>G | CA338239191 | ATP13A2 | c.2601G>C (p.Gln867His) c.2469G>C (p.Gln823His) c.2586G>C (p.Gln862His) n.475G>C c.189G>C (p.Gln63His) c.2598G>C (p.Gln866His) c.2574G>C (p.Gln858His) c.2541G>C (p.Gln847His) c.2484G>C (p.Gln828His) c.2583G>C (p.Gln861His) c.2559G>C (p.Gln853His) c.2394G>C (p.Gln798His) c.2556G>C (p.Gln852His) | |
1 | g.16989699C>T | CA416094005 | ATP13A2 | c.2601G>A (p.Gln867=) c.2469G>A (p.Gln823=) c.2586G>A (p.Gln862=) n.475G>A c.189G>A (p.Gln63=) c.2598G>A (p.Gln866=) c.2574G>A (p.Gln858=) c.2541G>A (p.Gln847=) c.2484G>A (p.Gln828=) c.2583G>A (p.Gln861=) c.2559G>A (p.Gln853=) c.2394G>A (p.Gln798=) c.2556G>A (p.Gln852=) | |
1 | g.16989700T>A | CA338239197 | ATP13A2 | c.2600A>T (p.Gln867Leu) c.2468A>T (p.Gln823Leu) c.2585A>T (p.Gln862Leu) n.474A>T c.188A>T (p.Gln63Leu) c.2597A>T (p.Gln866Leu) c.2573A>T (p.Gln858Leu) c.2540A>T (p.Gln847Leu) c.2483A>T (p.Gln828Leu) c.2582A>T (p.Gln861Leu) c.2558A>T (p.Gln853Leu) c.2393A>T (p.Gln798Leu) c.2555A>T (p.Gln852Leu) | |
1 | g.16989700T>C | CA338239202 | ATP13A2 | c.2600A>G (p.Gln867Arg) c.2468A>G (p.Gln823Arg) c.2585A>G (p.Gln862Arg) n.474A>G c.188A>G (p.Gln63Arg) c.2597A>G (p.Gln866Arg) c.2573A>G (p.Gln858Arg) c.2540A>G (p.Gln847Arg) c.2483A>G (p.Gln828Arg) c.2582A>G (p.Gln861Arg) c.2558A>G (p.Gln853Arg) c.2393A>G (p.Gln798Arg) c.2555A>G (p.Gln852Arg) | gnomAD v4 |
1 | g.16989700T>G | CA636777 | ATP13A2 | c.2600A>C (p.Gln867Pro) c.2468A>C (p.Gln823Pro) c.2585A>C (p.Gln862Pro) n.474A>C c.188A>C (p.Gln63Pro) c.2597A>C (p.Gln866Pro) c.2573A>C (p.Gln858Pro) c.2540A>C (p.Gln847Pro) c.2483A>C (p.Gln828Pro) c.2582A>C (p.Gln861Pro) c.2558A>C (p.Gln853Pro) c.2393A>C (p.Gln798Pro) c.2555A>C (p.Gln852Pro) | dbSNP ExAC gnomAD v2 |
1 | g.16989700T= | CA1156020993 | ATP13A2 | c.2600A= (p.Gln867=) c.2468A= (p.Gln823=) c.2585A= (p.Gln862=) n.474A= c.188A= (p.Gln63=) c.2597A= (p.Gln866=) c.2573A= (p.Gln858=) c.2540A= (p.Gln847=) c.2483A= (p.Gln828=) c.2582A= (p.Gln861=) c.2558A= (p.Gln853=) c.2393A= (p.Gln798=) c.2555A= (p.Gln852=) | |
1 | g.16989701G>A | CA636778 | ATP13A2 | c.2599C>T (p.Gln867Ter) c.2467C>T (p.Gln823Ter) c.2584C>T (p.Gln862Ter) n.473C>T c.187C>T (p.Gln63Ter) c.2596C>T (p.Gln866Ter) c.2572C>T (p.Gln858Ter) c.2539C>T (p.Gln847Ter) c.2482C>T (p.Gln828Ter) c.2581C>T (p.Gln861Ter) c.2557C>T (p.Gln853Ter) c.2392C>T (p.Gln798Ter) c.2554C>T (p.Gln852Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16989701G>C | CA338239205 | ATP13A2 | c.2599C>G (p.Gln867Glu) c.2467C>G (p.Gln823Glu) c.2584C>G (p.Gln862Glu) n.473C>G c.187C>G (p.Gln63Glu) c.2596C>G (p.Gln866Glu) c.2572C>G (p.Gln858Glu) c.2539C>G (p.Gln847Glu) c.2482C>G (p.Gln828Glu) c.2581C>G (p.Gln861Glu) c.2557C>G (p.Gln853Glu) c.2392C>G (p.Gln798Glu) c.2554C>G (p.Gln852Glu) | gnomAD v4 |
1 | g.16989701G= | CA1156020998 | ATP13A2 | c.2599C= (p.Gln867=) c.2467C= (p.Gln823=) c.2584C= (p.Gln862=) n.473C= c.187C= (p.Gln63=) c.2596C= (p.Gln866=) c.2572C= (p.Gln858=) c.2539C= (p.Gln847=) c.2482C= (p.Gln828=) c.2581C= (p.Gln861=) c.2557C= (p.Gln853=) c.2392C= (p.Gln798=) c.2554C= (p.Gln852=) | |
1 | g.16989701G>T | CA338239208 | ATP13A2 | c.2599C>A (p.Gln867Lys) c.2467C>A (p.Gln823Lys) c.2584C>A (p.Gln862Lys) n.473C>A c.187C>A (p.Gln63Lys) c.2596C>A (p.Gln866Lys) c.2572C>A (p.Gln858Lys) c.2539C>A (p.Gln847Lys) c.2482C>A (p.Gln828Lys) c.2581C>A (p.Gln861Lys) c.2557C>A (p.Gln853Lys) c.2392C>A (p.Gln798Lys) c.2554C>A (p.Gln852Lys) | |
1 | g.16989702T>A | CA416094007 | ATP13A2 | c.2598A>T (p.Leu866=) c.2466A>T (p.Leu822=) c.2583A>T (p.Leu861=) n.472A>T c.186A>T (p.Leu62=) c.2595A>T (p.Leu865=) c.2571A>T (p.Leu857=) c.2538A>T (p.Leu846=) c.2481A>T (p.Leu827=) c.2580A>T (p.Leu860=) c.2556A>T (p.Leu852=) c.2391A>T (p.Leu797=) c.2553A>T (p.Leu851=) | |
1 | g.16989702T>C | CA416094008 | ATP13A2 | c.2598A>G (p.Leu866=) c.2466A>G (p.Leu822=) c.2583A>G (p.Leu861=) n.472A>G c.186A>G (p.Leu62=) c.2595A>G (p.Leu865=) c.2571A>G (p.Leu857=) c.2538A>G (p.Leu846=) c.2481A>G (p.Leu827=) c.2580A>G (p.Leu860=) c.2556A>G (p.Leu852=) c.2391A>G (p.Leu797=) c.2553A>G (p.Leu851=) | |
1 | g.16989702T>G | CA416094009 | ATP13A2 | c.2598A>C (p.Leu866=) c.2466A>C (p.Leu822=) c.2583A>C (p.Leu861=) n.472A>C c.186A>C (p.Leu62=) c.2595A>C (p.Leu865=) c.2571A>C (p.Leu857=) c.2538A>C (p.Leu846=) c.2481A>C (p.Leu827=) c.2580A>C (p.Leu860=) c.2556A>C (p.Leu852=) c.2391A>C (p.Leu797=) c.2553A>C (p.Leu851=) | |
1 | g.16989703A>C | CA338239211 | ATP13A2 | c.2597T>G (p.Leu866Arg) c.2465T>G (p.Leu822Arg) c.2582T>G (p.Leu861Arg) n.471T>G c.185T>G (p.Leu62Arg) c.2594T>G (p.Leu865Arg) c.2570T>G (p.Leu857Arg) c.2537T>G (p.Leu846Arg) c.2480T>G (p.Leu827Arg) c.2579T>G (p.Leu860Arg) c.2555T>G (p.Leu852Arg) c.2390T>G (p.Leu797Arg) c.2552T>G (p.Leu851Arg) | |
1 | g.16989703A>G | CA338239215 | ATP13A2 | c.2597T>C (p.Leu866Pro) c.2465T>C (p.Leu822Pro) c.2582T>C (p.Leu861Pro) n.471T>C c.185T>C (p.Leu62Pro) c.2594T>C (p.Leu865Pro) c.2570T>C (p.Leu857Pro) c.2537T>C (p.Leu846Pro) c.2480T>C (p.Leu827Pro) c.2579T>C (p.Leu860Pro) c.2555T>C (p.Leu852Pro) c.2390T>C (p.Leu797Pro) c.2552T>C (p.Leu851Pro) | gnomAD v4 |
1 | g.16989703A>T | CA338239219 | ATP13A2 | c.2597T>A (p.Leu866Gln) c.2465T>A (p.Leu822Gln) c.2582T>A (p.Leu861Gln) n.471T>A c.185T>A (p.Leu62Gln) c.2594T>A (p.Leu865Gln) c.2570T>A (p.Leu857Gln) c.2537T>A (p.Leu846Gln) c.2480T>A (p.Leu827Gln) c.2579T>A (p.Leu860Gln) c.2555T>A (p.Leu852Gln) c.2390T>A (p.Leu797Gln) c.2552T>A (p.Leu851Gln) | |
1 | g.16989704G>A | CA416094010 | ATP13A2 | c.2596C>T (p.Leu866=) c.2464C>T (p.Leu822=) c.2581C>T (p.Leu861=) n.470C>T c.184C>T (p.Leu62=) c.2593C>T (p.Leu865=) c.2569C>T (p.Leu857=) c.2536C>T (p.Leu846=) c.2479C>T (p.Leu827=) c.2578C>T (p.Leu860=) c.2554C>T (p.Leu852=) c.2389C>T (p.Leu797=) c.2551C>T (p.Leu851=) | |
1 | g.16989704G>C | CA338239222 | ATP13A2 | c.2596C>G (p.Leu866Val) c.2464C>G (p.Leu822Val) c.2581C>G (p.Leu861Val) n.470C>G c.184C>G (p.Leu62Val) c.2593C>G (p.Leu865Val) c.2569C>G (p.Leu857Val) c.2536C>G (p.Leu846Val) c.2479C>G (p.Leu827Val) c.2578C>G (p.Leu860Val) c.2554C>G (p.Leu852Val) c.2389C>G (p.Leu797Val) c.2551C>G (p.Leu851Val) | |
1 | g.16989704G>T | CA338239223 | ATP13A2 | c.2596C>A (p.Leu866Ile) c.2464C>A (p.Leu822Ile) c.2581C>A (p.Leu861Ile) n.470C>A c.184C>A (p.Leu62Ile) c.2593C>A (p.Leu865Ile) c.2569C>A (p.Leu857Ile) c.2536C>A (p.Leu846Ile) c.2479C>A (p.Leu827Ile) c.2578C>A (p.Leu860Ile) c.2554C>A (p.Leu852Ile) c.2389C>A (p.Leu797Ile) c.2551C>A (p.Leu851Ile) | gnomAD v4 |
1 | g.16989705C>A | CA338239227 | ATP13A2 | c.2595G>T (p.Glu865Asp) c.2463G>T (p.Glu821Asp) c.2580G>T (p.Glu860Asp) n.469G>T c.183G>T (p.Glu61Asp) c.2592G>T (p.Glu864Asp) c.2568G>T (p.Glu856Asp) c.2535G>T (p.Glu845Asp) c.2478G>T (p.Glu826Asp) c.2577G>T (p.Glu859Asp) c.2553G>T (p.Glu851Asp) c.2388G>T (p.Glu796Asp) c.2550G>T (p.Glu850Asp) | |
1 | g.16989705C>G | CA338239228 | ATP13A2 | c.2595G>C (p.Glu865Asp) c.2463G>C (p.Glu821Asp) c.2580G>C (p.Glu860Asp) n.469G>C c.183G>C (p.Glu61Asp) c.2592G>C (p.Glu864Asp) c.2568G>C (p.Glu856Asp) c.2535G>C (p.Glu845Asp) c.2478G>C (p.Glu826Asp) c.2577G>C (p.Glu859Asp) c.2553G>C (p.Glu851Asp) c.2388G>C (p.Glu796Asp) c.2550G>C (p.Glu850Asp) | |
1 | g.16989705C>T | CA416094011 | ATP13A2 | c.2595G>A (p.Glu865=) c.2463G>A (p.Glu821=) c.2580G>A (p.Glu860=) n.469G>A c.183G>A (p.Glu61=) c.2592G>A (p.Glu864=) c.2568G>A (p.Glu856=) c.2535G>A (p.Glu845=) c.2478G>A (p.Glu826=) c.2577G>A (p.Glu859=) c.2553G>A (p.Glu851=) c.2388G>A (p.Glu796=) c.2550G>A (p.Glu850=) | |
1 | g.16989706T>A | CA338239231 | ATP13A2 | c.2594A>T (p.Glu865Val) c.2462A>T (p.Glu821Val) c.2579A>T (p.Glu860Val) n.468A>T c.182A>T (p.Glu61Val) c.2591A>T (p.Glu864Val) c.2567A>T (p.Glu856Val) c.2534A>T (p.Glu845Val) c.2477A>T (p.Glu826Val) c.2576A>T (p.Glu859Val) c.2552A>T (p.Glu851Val) c.2387A>T (p.Glu796Val) c.2549A>T (p.Glu850Val) | COSMIC COSMIC |
1 | g.16989706T>C | CA338239233 | ATP13A2 | c.2594A>G (p.Glu865Gly) c.2462A>G (p.Glu821Gly) c.2579A>G (p.Glu860Gly) n.468A>G c.182A>G (p.Glu61Gly) c.2591A>G (p.Glu864Gly) c.2567A>G (p.Glu856Gly) c.2534A>G (p.Glu845Gly) c.2477A>G (p.Glu826Gly) c.2576A>G (p.Glu859Gly) c.2552A>G (p.Glu851Gly) c.2387A>G (p.Glu796Gly) c.2549A>G (p.Glu850Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.16989706T>G | CA338239236 | ATP13A2 | c.2594A>C (p.Glu865Ala) c.2462A>C (p.Glu821Ala) c.2579A>C (p.Glu860Ala) n.468A>C c.182A>C (p.Glu61Ala) c.2591A>C (p.Glu864Ala) c.2567A>C (p.Glu856Ala) c.2534A>C (p.Glu845Ala) c.2477A>C (p.Glu826Ala) c.2576A>C (p.Glu859Ala) c.2552A>C (p.Glu851Ala) c.2387A>C (p.Glu796Ala) c.2549A>C (p.Glu850Ala) | |
1 | g.16989706T= | CA1156021001 | ATP13A2 | c.2594A= (p.Glu865=) c.2462A= (p.Glu821=) c.2579A= (p.Glu860=) n.468A= c.182A= (p.Glu61=) c.2591A= (p.Glu864=) c.2567A= (p.Glu856=) c.2534A= (p.Glu845=) c.2477A= (p.Glu826=) c.2576A= (p.Glu859=) c.2552A= (p.Glu851=) c.2387A= (p.Glu796=) c.2549A= (p.Glu850=) | |
1 | g.16989707C>A | CA338239249 | ATP13A2 | c.2593G>T (p.Glu865Ter) c.2461G>T (p.Glu821Ter) c.2578G>T (p.Glu860Ter) n.467G>T c.181G>T (p.Glu61Ter) c.2590G>T (p.Glu864Ter) c.2566G>T (p.Glu856Ter) c.2533G>T (p.Glu845Ter) c.2476G>T (p.Glu826Ter) c.2575G>T (p.Glu859Ter) c.2551G>T (p.Glu851Ter) c.2386G>T (p.Glu796Ter) c.2548G>T (p.Glu850Ter) | |
1 | g.16989707C= | CA1142245732 | ATP13A2 | c.2593G= (p.Glu865=) c.2461G= (p.Glu821=) c.2578G= (p.Glu860=) n.467G= c.181G= (p.Glu61=) c.2590G= (p.Glu864=) c.2566G= (p.Glu856=) c.2533G= (p.Glu845=) c.2476G= (p.Glu826=) c.2575G= (p.Glu859=) c.2551G= (p.Glu851=) c.2386G= (p.Glu796=) c.2548G= (p.Glu850=) | |
1 | g.16989707C>G | CA338239242 | ATP13A2 | c.2593G>C (p.Glu865Gln) c.2461G>C (p.Glu821Gln) c.2578G>C (p.Glu860Gln) n.467G>C c.181G>C (p.Glu61Gln) c.2590G>C (p.Glu864Gln) c.2566G>C (p.Glu856Gln) c.2533G>C (p.Glu845Gln) c.2476G>C (p.Glu826Gln) c.2575G>C (p.Glu859Gln) c.2551G>C (p.Glu851Gln) c.2386G>C (p.Glu796Gln) c.2548G>C (p.Glu850Gln) | ClinVar |
1 | g.16989707C>T | CA636779 | ATP13A2 | c.2593G>A (p.Glu865Lys) c.2461G>A (p.Glu821Lys) c.2578G>A (p.Glu860Lys) n.467G>A c.181G>A (p.Glu61Lys) c.2590G>A (p.Glu864Lys) c.2566G>A (p.Glu856Lys) c.2533G>A (p.Glu845Lys) c.2476G>A (p.Glu826Lys) c.2575G>A (p.Glu859Lys) c.2551G>A (p.Glu851Lys) c.2386G>A (p.Glu796Lys) c.2548G>A (p.Glu850Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16989708G>A | CA636780 | ATP13A2 | c.2592C>T (p.Cys864=) c.2460C>T (p.Cys820=) c.2577C>T (p.Cys859=) n.466C>T c.180C>T (p.Cys60=) c.2589C>T (p.Cys863=) c.2565C>T (p.Cys855=) c.2532C>T (p.Cys844=) c.2475C>T (p.Cys825=) c.2574C>T (p.Cys858=) c.2550C>T (p.Cys850=) c.2385C>T (p.Cys795=) c.2547C>T (p.Cys849=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.16989708G>C | CA338239258 | ATP13A2 | c.2592C>G (p.Cys864Trp) c.2460C>G (p.Cys820Trp) c.2577C>G (p.Cys859Trp) n.466C>G c.180C>G (p.Cys60Trp) c.2589C>G (p.Cys863Trp) c.2565C>G (p.Cys855Trp) c.2532C>G (p.Cys844Trp) c.2475C>G (p.Cys825Trp) c.2574C>G (p.Cys858Trp) c.2550C>G (p.Cys850Trp) c.2385C>G (p.Cys795Trp) c.2547C>G (p.Cys849Trp) | |
1 | g.16989708G= | CA1156021010 | ATP13A2 | c.2592C= (p.Cys864=) c.2460C= (p.Cys820=) c.2577C= (p.Cys859=) n.466C= c.180C= (p.Cys60=) c.2589C= (p.Cys863=) c.2565C= (p.Cys855=) c.2532C= (p.Cys844=) c.2475C= (p.Cys825=) c.2574C= (p.Cys858=) c.2550C= (p.Cys850=) c.2385C= (p.Cys795=) c.2547C= (p.Cys849=) | |
1 | g.16989708G>T | CA338239268 | ATP13A2 | c.2592C>A (p.Cys864Ter) c.2460C>A (p.Cys820Ter) c.2577C>A (p.Cys859Ter) n.466C>A c.180C>A (p.Cys60Ter) c.2589C>A (p.Cys863Ter) c.2565C>A (p.Cys855Ter) c.2532C>A (p.Cys844Ter) c.2475C>A (p.Cys825Ter) c.2574C>A (p.Cys858Ter) c.2550C>A (p.Cys850Ter) c.2385C>A (p.Cys795Ter) c.2547C>A (p.Cys849Ter) | gnomAD v4 |
1 | g.16989709C>A | CA338239271 | ATP13A2 | c.2591G>T (p.Cys864Phe) c.2459G>T (p.Cys820Phe) c.2576G>T (p.Cys859Phe) n.465G>T c.179G>T (p.Cys60Phe) c.2588G>T (p.Cys863Phe) c.2564G>T (p.Cys855Phe) c.2531G>T (p.Cys844Phe) c.2474G>T (p.Cys825Phe) c.2573G>T (p.Cys858Phe) c.2549G>T (p.Cys850Phe) c.2384G>T (p.Cys795Phe) c.2546G>T (p.Cys849Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16989709C= | CA1156021014 | ATP13A2 | c.2591G= (p.Cys864=) c.2459G= (p.Cys820=) c.2576G= (p.Cys859=) n.465G= c.179G= (p.Cys60=) c.2588G= (p.Cys863=) c.2564G= (p.Cys855=) c.2531G= (p.Cys844=) c.2474G= (p.Cys825=) c.2573G= (p.Cys858=) c.2549G= (p.Cys850=) c.2384G= (p.Cys795=) c.2546G= (p.Cys849=) | |
1 | g.16989709C>G | CA338239279 | ATP13A2 | c.2591G>C (p.Cys864Ser) c.2459G>C (p.Cys820Ser) c.2576G>C (p.Cys859Ser) n.465G>C c.179G>C (p.Cys60Ser) c.2588G>C (p.Cys863Ser) c.2564G>C (p.Cys855Ser) c.2531G>C (p.Cys844Ser) c.2474G>C (p.Cys825Ser) c.2573G>C (p.Cys858Ser) c.2549G>C (p.Cys850Ser) c.2384G>C (p.Cys795Ser) c.2546G>C (p.Cys849Ser) | |
1 | g.16989709C>T | CA338239283 | ATP13A2 | c.2591G>A (p.Cys864Tyr) c.2459G>A (p.Cys820Tyr) c.2576G>A (p.Cys859Tyr) n.465G>A c.179G>A (p.Cys60Tyr) c.2588G>A (p.Cys863Tyr) c.2564G>A (p.Cys855Tyr) c.2531G>A (p.Cys844Tyr) c.2474G>A (p.Cys825Tyr) c.2573G>A (p.Cys858Tyr) c.2549G>A (p.Cys850Tyr) c.2384G>A (p.Cys795Tyr) c.2546G>A (p.Cys849Tyr) | |
1 | g.16989710A= | CA1156021016 | ATP13A2 | c.2590T= (p.Cys864=) c.2458T= (p.Cys820=) c.2575T= (p.Cys859=) n.464T= c.178T= (p.Cys60=) c.2587T= (p.Cys863=) c.2563T= (p.Cys855=) c.2530T= (p.Cys844=) c.2473T= (p.Cys825=) c.2572T= (p.Cys858=) c.2548T= (p.Cys850=) c.2383T= (p.Cys795=) c.2545T= (p.Cys849=) | |
1 | g.16989710A>C | CA338239291 | ATP13A2 | c.2590T>G (p.Cys864Gly) c.2458T>G (p.Cys820Gly) c.2575T>G (p.Cys859Gly) n.464T>G c.178T>G (p.Cys60Gly) c.2587T>G (p.Cys863Gly) c.2563T>G (p.Cys855Gly) c.2530T>G (p.Cys844Gly) c.2473T>G (p.Cys825Gly) c.2572T>G (p.Cys858Gly) c.2548T>G (p.Cys850Gly) c.2383T>G (p.Cys795Gly) c.2545T>G (p.Cys849Gly) | |
1 | g.16989710A>G | CA338239287 | ATP13A2 | c.2590T>C (p.Cys864Arg) c.2458T>C (p.Cys820Arg) c.2575T>C (p.Cys859Arg) n.464T>C c.178T>C (p.Cys60Arg) c.2587T>C (p.Cys863Arg) c.2563T>C (p.Cys855Arg) c.2530T>C (p.Cys844Arg) c.2473T>C (p.Cys825Arg) c.2572T>C (p.Cys858Arg) c.2548T>C (p.Cys850Arg) c.2383T>C (p.Cys795Arg) c.2545T>C (p.Cys849Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16989710A>T | CA338239288 | ATP13A2 | c.2590T>A (p.Cys864Ser) c.2458T>A (p.Cys820Ser) c.2575T>A (p.Cys859Ser) n.464T>A c.178T>A (p.Cys60Ser) c.2587T>A (p.Cys863Ser) c.2563T>A (p.Cys855Ser) c.2530T>A (p.Cys844Ser) c.2473T>A (p.Cys825Ser) c.2572T>A (p.Cys858Ser) c.2548T>A (p.Cys850Ser) c.2383T>A (p.Cys795Ser) c.2545T>A (p.Cys849Ser) | |
1 | g.16989711C>A | CA416094017 | ATP13A2 | c.2589G>T (p.Val863=) c.2457G>T (p.Val819=) c.2574G>T (p.Val858=) n.463G>T c.177G>T (p.Val59=) c.2586G>T (p.Val862=) c.2562G>T (p.Val854=) c.2529G>T (p.Val843=) c.2472G>T (p.Val824=) c.2571G>T (p.Val857=) c.2547G>T (p.Val849=) c.2382G>T (p.Val794=) c.2544G>T (p.Val848=) | |
1 | g.16989711C>G | CA416094019 | ATP13A2 | c.2589G>C (p.Val863=) c.2457G>C (p.Val819=) c.2574G>C (p.Val858=) n.463G>C c.177G>C (p.Val59=) c.2586G>C (p.Val862=) c.2562G>C (p.Val854=) c.2529G>C (p.Val843=) c.2472G>C (p.Val824=) c.2571G>C (p.Val857=) c.2547G>C (p.Val849=) c.2382G>C (p.Val794=) c.2544G>C (p.Val848=) | |
1 | g.16989711C>T | CA416094020 | ATP13A2 | c.2589G>A (p.Val863=) c.2457G>A (p.Val819=) c.2574G>A (p.Val858=) n.463G>A c.177G>A (p.Val59=) c.2586G>A (p.Val862=) c.2562G>A (p.Val854=) c.2529G>A (p.Val843=) c.2472G>A (p.Val824=) c.2571G>A (p.Val857=) c.2547G>A (p.Val849=) c.2382G>A (p.Val794=) c.2544G>A (p.Val848=) | |
1 | g.16989712A>C | CA338239294 | ATP13A2 | c.2588T>G (p.Val863Gly) c.2456T>G (p.Val819Gly) c.2573T>G (p.Val858Gly) n.462T>G c.176T>G (p.Val59Gly) c.2585T>G (p.Val862Gly) c.2561T>G (p.Val854Gly) c.2528T>G (p.Val843Gly) c.2471T>G (p.Val824Gly) c.2570T>G (p.Val857Gly) c.2546T>G (p.Val849Gly) c.2381T>G (p.Val794Gly) c.2543T>G (p.Val848Gly) | |
1 | g.16989712A>G | CA338239295 | ATP13A2 | c.2588T>C (p.Val863Ala) c.2456T>C (p.Val819Ala) c.2573T>C (p.Val858Ala) n.462T>C c.176T>C (p.Val59Ala) c.2585T>C (p.Val862Ala) c.2561T>C (p.Val854Ala) c.2528T>C (p.Val843Ala) c.2471T>C (p.Val824Ala) c.2570T>C (p.Val857Ala) c.2546T>C (p.Val849Ala) c.2381T>C (p.Val794Ala) c.2543T>C (p.Val848Ala) | |
1 | g.16989712A>T | CA338239296 | ATP13A2 | c.2588T>A (p.Val863Glu) c.2456T>A (p.Val819Glu) c.2573T>A (p.Val858Glu) n.462T>A c.176T>A (p.Val59Glu) c.2585T>A (p.Val862Glu) c.2561T>A (p.Val854Glu) c.2528T>A (p.Val843Glu) c.2471T>A (p.Val824Glu) c.2570T>A (p.Val857Glu) c.2546T>A (p.Val849Glu) c.2381T>A (p.Val794Glu) c.2543T>A (p.Val848Glu) | |
1 | g.16989713C>A | CA338239297 | ATP13A2 | c.2587G>T (p.Val863Leu) c.2455G>T (p.Val819Leu) c.2572G>T (p.Val858Leu) n.461G>T c.175G>T (p.Val59Leu) c.2584G>T (p.Val862Leu) c.2560G>T (p.Val854Leu) c.2527G>T (p.Val843Leu) c.2470G>T (p.Val824Leu) c.2569G>T (p.Val857Leu) c.2545G>T (p.Val849Leu) c.2380G>T (p.Val794Leu) c.2542G>T (p.Val848Leu) | |
1 | g.16989713C>G | CA338239298 | ATP13A2 | c.2587G>C (p.Val863Leu) c.2455G>C (p.Val819Leu) c.2572G>C (p.Val858Leu) n.461G>C c.175G>C (p.Val59Leu) c.2584G>C (p.Val862Leu) c.2560G>C (p.Val854Leu) c.2527G>C (p.Val843Leu) c.2470G>C (p.Val824Leu) c.2569G>C (p.Val857Leu) c.2545G>C (p.Val849Leu) c.2380G>C (p.Val794Leu) c.2542G>C (p.Val848Leu) | |
1 | g.16989713C>T | CA338239299 | ATP13A2 | c.2587G>A (p.Val863Met) c.2455G>A (p.Val819Met) c.2572G>A (p.Val858Met) n.461G>A c.175G>A (p.Val59Met) c.2584G>A (p.Val862Met) c.2560G>A (p.Val854Met) c.2527G>A (p.Val843Met) c.2470G>A (p.Val824Met) c.2569G>A (p.Val857Met) c.2545G>A (p.Val849Met) c.2380G>A (p.Val794Met) c.2542G>A (p.Val848Met) | dbSNP |
1 | g.16989714del | CA2580060657 | ATP13A2 | c.2587del (p.Val863CysfsTer24) c.2455del (p.Val819CysfsTer24) c.2572del (p.Val858CysfsTer24) n.461del c.175del (p.Val59CysfsTer24) c.2584del (p.Val862CysfsTer24) c.2560del (p.Val854CysfsTer24) c.2527del (p.Val843CysfsTer24) c.2470del (p.Val824CysfsTer24) c.2569del (p.Val857CysfsTer24) c.2545del (p.Val849CysfsTer24) c.2380del (p.Val794CysfsTer24) c.2542del (p.Val848CysfsTer24) | ClinVar |
1 | g.16989714C>A | CA416094024 | ATP13A2 | c.2586G>T (p.Leu862=) c.2454G>T (p.Leu818=) c.2571G>T (p.Leu857=) n.460G>T c.174G>T (p.Leu58=) c.2583G>T (p.Leu861=) c.2559G>T (p.Leu853=) c.2526G>T (p.Leu842=) c.2469G>T (p.Leu823=) c.2568G>T (p.Leu856=) c.2544G>T (p.Leu848=) c.2379G>T (p.Leu793=) c.2541G>T (p.Leu847=) | |
1 | g.16989714C>G | CA416094025 | ATP13A2 | c.2586G>C (p.Leu862=) c.2454G>C (p.Leu818=) c.2571G>C (p.Leu857=) n.460G>C c.174G>C (p.Leu58=) c.2583G>C (p.Leu861=) c.2559G>C (p.Leu853=) c.2526G>C (p.Leu842=) c.2469G>C (p.Leu823=) c.2568G>C (p.Leu856=) c.2544G>C (p.Leu848=) c.2379G>C (p.Leu793=) c.2541G>C (p.Leu847=) | |
1 | g.16989714C>T | CA416094026 | ATP13A2 | c.2586G>A (p.Leu862=) c.2454G>A (p.Leu818=) c.2571G>A (p.Leu857=) n.460G>A c.174G>A (p.Leu58=) c.2583G>A (p.Leu861=) c.2559G>A (p.Leu853=) c.2526G>A (p.Leu842=) c.2469G>A (p.Leu823=) c.2568G>A (p.Leu856=) c.2544G>A (p.Leu848=) c.2379G>A (p.Leu793=) c.2541G>A (p.Leu847=) | |
1 | g.16989715A>C | CA338239302 | ATP13A2 | c.2585T>G (p.Leu862Arg) c.2453T>G (p.Leu818Arg) c.2570T>G (p.Leu857Arg) n.459T>G c.173T>G (p.Leu58Arg) c.2582T>G (p.Leu861Arg) c.2558T>G (p.Leu853Arg) c.2525T>G (p.Leu842Arg) c.2468T>G (p.Leu823Arg) c.2567T>G (p.Leu856Arg) c.2543T>G (p.Leu848Arg) c.2378T>G (p.Leu793Arg) c.2540T>G (p.Leu847Arg) | |
1 | g.16989715A>G | CA338239304 | ATP13A2 | c.2585T>C (p.Leu862Pro) c.2453T>C (p.Leu818Pro) c.2570T>C (p.Leu857Pro) n.459T>C c.173T>C (p.Leu58Pro) c.2582T>C (p.Leu861Pro) c.2558T>C (p.Leu853Pro) c.2525T>C (p.Leu842Pro) c.2468T>C (p.Leu823Pro) c.2567T>C (p.Leu856Pro) c.2543T>C (p.Leu848Pro) c.2378T>C (p.Leu793Pro) c.2540T>C (p.Leu847Pro) | |
1 | g.16989715A>T | CA338239305 | ATP13A2 | c.2585T>A (p.Leu862Gln) c.2453T>A (p.Leu818Gln) c.2570T>A (p.Leu857Gln) n.459T>A c.173T>A (p.Leu58Gln) c.2582T>A (p.Leu861Gln) c.2558T>A (p.Leu853Gln) c.2525T>A (p.Leu842Gln) c.2468T>A (p.Leu823Gln) c.2567T>A (p.Leu856Gln) c.2543T>A (p.Leu848Gln) c.2378T>A (p.Leu793Gln) c.2540T>A (p.Leu847Gln) | |
1 | g.16989716G>A | CA416094029 | ATP13A2 | c.2584C>T (p.Leu862=) c.2452C>T (p.Leu818=) c.2569C>T (p.Leu857=) n.458C>T c.172C>T (p.Leu58=) c.2581C>T (p.Leu861=) c.2557C>T (p.Leu853=) c.2524C>T (p.Leu842=) c.2467C>T (p.Leu823=) c.2566C>T (p.Leu856=) c.2542C>T (p.Leu848=) c.2377C>T (p.Leu793=) c.2539C>T (p.Leu847=) | |
1 | g.16989716G>C | CA338239307 | ATP13A2 | c.2584C>G (p.Leu862Val) c.2452C>G (p.Leu818Val) c.2569C>G (p.Leu857Val) n.458C>G c.172C>G (p.Leu58Val) c.2581C>G (p.Leu861Val) c.2557C>G (p.Leu853Val) c.2524C>G (p.Leu842Val) c.2467C>G (p.Leu823Val) c.2566C>G (p.Leu856Val) c.2542C>G (p.Leu848Val) c.2377C>G (p.Leu793Val) c.2539C>G (p.Leu847Val) | |
1 | g.16989716G>T | CA338239308 | ATP13A2 | c.2584C>A (p.Leu862Met) c.2452C>A (p.Leu818Met) c.2569C>A (p.Leu857Met) n.458C>A c.172C>A (p.Leu58Met) c.2581C>A (p.Leu861Met) c.2557C>A (p.Leu853Met) c.2524C>A (p.Leu842Met) c.2467C>A (p.Leu823Met) c.2566C>A (p.Leu856Met) c.2542C>A (p.Leu848Met) c.2377C>A (p.Leu793Met) c.2539C>A (p.Leu847Met) | |
1 | g.16989717C>A | CA338239312 | ATP13A2 | c.2583G>T (p.Glu861Asp) c.2451G>T (p.Glu817Asp) c.2568G>T (p.Glu856Asp) n.457G>T c.171G>T (p.Glu57Asp) c.2580G>T (p.Glu860Asp) c.2556G>T (p.Glu852Asp) c.2523G>T (p.Glu841Asp) c.2466G>T (p.Glu822Asp) c.2565G>T (p.Glu855Asp) c.2541G>T (p.Glu847Asp) c.2376G>T (p.Glu792Asp) c.2538G>T (p.Glu846Asp) | |
1 | g.16989717C>G | CA338239314 | ATP13A2 | c.2583G>C (p.Glu861Asp) c.2451G>C (p.Glu817Asp) c.2568G>C (p.Glu856Asp) n.457G>C c.171G>C (p.Glu57Asp) c.2580G>C (p.Glu860Asp) c.2556G>C (p.Glu852Asp) c.2523G>C (p.Glu841Asp) c.2466G>C (p.Glu822Asp) c.2565G>C (p.Glu855Asp) c.2541G>C (p.Glu847Asp) c.2376G>C (p.Glu792Asp) c.2538G>C (p.Glu846Asp) | |
1 | g.16989717C>T | CA416094030 | ATP13A2 | c.2583G>A (p.Glu861=) c.2451G>A (p.Glu817=) c.2568G>A (p.Glu856=) n.457G>A c.171G>A (p.Glu57=) c.2580G>A (p.Glu860=) c.2556G>A (p.Glu852=) c.2523G>A (p.Glu841=) c.2466G>A (p.Glu822=) c.2565G>A (p.Glu855=) c.2541G>A (p.Glu847=) c.2376G>A (p.Glu792=) c.2538G>A (p.Glu846=) | gnomAD v4 |
1 | g.16989719_16989720del | CA2643673122 | ATP13A2 | c.2582_2583del (p.Glu861AlafsTer21) c.2450_2451del (p.Glu817AlafsTer21) c.2567_2568del (p.Glu856AlafsTer21) n.456_457del c.170_171del (p.Glu57AlafsTer21) c.2579_2580del (p.Glu860AlafsTer21) c.2555_2556del (p.Glu852AlafsTer21) c.2522_2523del (p.Glu841AlafsTer21) c.2465_2466del (p.Glu822AlafsTer21) c.2564_2565del (p.Glu855AlafsTer21) c.2540_2541del (p.Glu847AlafsTer21) c.2375_2376del (p.Glu792AlafsTer21) c.2537_2538del (p.Glu846AlafsTer21) | gnomAD v4 |
1 | g.16989718T>A | CA338239316 | ATP13A2 | c.2582A>T (p.Glu861Val) c.2450A>T (p.Glu817Val) c.2567A>T (p.Glu856Val) n.456A>T c.170A>T (p.Glu57Val) c.2579A>T (p.Glu860Val) c.2555A>T (p.Glu852Val) c.2522A>T (p.Glu841Val) c.2465A>T (p.Glu822Val) c.2564A>T (p.Glu855Val) c.2540A>T (p.Glu847Val) c.2375A>T (p.Glu792Val) c.2537A>T (p.Glu846Val) | gnomAD v4 |
1 | g.16989718T>C | CA338239322 | ATP13A2 | c.2582A>G (p.Glu861Gly) c.2450A>G (p.Glu817Gly) c.2567A>G (p.Glu856Gly) n.456A>G c.170A>G (p.Glu57Gly) c.2579A>G (p.Glu860Gly) c.2555A>G (p.Glu852Gly) c.2522A>G (p.Glu841Gly) c.2465A>G (p.Glu822Gly) c.2564A>G (p.Glu855Gly) c.2540A>G (p.Glu847Gly) c.2375A>G (p.Glu792Gly) c.2537A>G (p.Glu846Gly) | |
1 | g.16989718T>G | CA338239318 | ATP13A2 | c.2582A>C (p.Glu861Ala) c.2450A>C (p.Glu817Ala) c.2567A>C (p.Glu856Ala) n.456A>C c.170A>C (p.Glu57Ala) c.2579A>C (p.Glu860Ala) c.2555A>C (p.Glu852Ala) c.2522A>C (p.Glu841Ala) c.2465A>C (p.Glu822Ala) c.2564A>C (p.Glu855Ala) c.2540A>C (p.Glu847Ala) c.2375A>C (p.Glu792Ala) c.2537A>C (p.Glu846Ala) | |
1 | g.16989719C>A | CA338239330 | ATP13A2 | c.2581G>T (p.Glu861Ter) c.2449G>T (p.Glu817Ter) c.2566G>T (p.Glu856Ter) n.455G>T c.169G>T (p.Glu57Ter) c.2578G>T (p.Glu860Ter) c.2554G>T (p.Glu852Ter) c.2521G>T (p.Glu841Ter) c.2464G>T (p.Glu822Ter) c.2563G>T (p.Glu855Ter) c.2539G>T (p.Glu847Ter) c.2374G>T (p.Glu792Ter) c.2536G>T (p.Glu846Ter) | |
1 | g.16989719C= | CA1156021020 | ATP13A2 | c.2581G= (p.Glu861=) c.2449G= (p.Glu817=) c.2566G= (p.Glu856=) n.455G= c.169G= (p.Glu57=) c.2578G= (p.Glu860=) c.2554G= (p.Glu852=) c.2521G= (p.Glu841=) c.2464G= (p.Glu822=) c.2563G= (p.Glu855=) c.2539G= (p.Glu847=) c.2374G= (p.Glu792=) c.2536G= (p.Glu846=) | |
1 | g.16989719C>G | CA636781 | ATP13A2 | c.2581G>C (p.Glu861Gln) c.2449G>C (p.Glu817Gln) c.2566G>C (p.Glu856Gln) n.455G>C c.169G>C (p.Glu57Gln) c.2578G>C (p.Glu860Gln) c.2554G>C (p.Glu852Gln) c.2521G>C (p.Glu841Gln) c.2464G>C (p.Glu822Gln) c.2563G>C (p.Glu855Gln) c.2539G>C (p.Glu847Gln) c.2374G>C (p.Glu792Gln) c.2536G>C (p.Glu846Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16989719C>T | CA338239341 | ATP13A2 | c.2581G>A (p.Glu861Lys) c.2449G>A (p.Glu817Lys) c.2566G>A (p.Glu856Lys) n.455G>A c.169G>A (p.Glu57Lys) c.2578G>A (p.Glu860Lys) c.2554G>A (p.Glu852Lys) c.2521G>A (p.Glu841Lys) c.2464G>A (p.Glu822Lys) c.2563G>A (p.Glu855Lys) c.2539G>A (p.Glu847Lys) c.2374G>A (p.Glu792Lys) c.2536G>A (p.Glu846Lys) | dbSNP gnomAD v4 |
1 | g.16989720T>A | CA416094034 | ATP13A2 | c.2580A>T (p.Thr860=) c.2448A>T (p.Thr816=) c.2565A>T (p.Thr855=) n.454A>T c.168A>T (p.Thr56=) c.2577A>T (p.Thr859=) c.2553A>T (p.Thr851=) c.2520A>T (p.Thr840=) c.2463A>T (p.Thr821=) c.2562A>T (p.Thr854=) c.2538A>T (p.Thr846=) c.2373A>T (p.Thr791=) c.2535A>T (p.Thr845=) | |
1 | g.16989720T>C | CA416094035 | ATP13A2 | c.2580A>G (p.Thr860=) c.2448A>G (p.Thr816=) c.2565A>G (p.Thr855=) n.454A>G c.168A>G (p.Thr56=) c.2577A>G (p.Thr859=) c.2553A>G (p.Thr851=) c.2520A>G (p.Thr840=) c.2463A>G (p.Thr821=) c.2562A>G (p.Thr854=) c.2538A>G (p.Thr846=) c.2373A>G (p.Thr791=) c.2535A>G (p.Thr845=) | ClinVar dbSNP gnomAD v2 |
1 | g.16989720T>G | CA416094036 | ATP13A2 | c.2580A>C (p.Thr860=) c.2448A>C (p.Thr816=) c.2565A>C (p.Thr855=) n.454A>C c.168A>C (p.Thr56=) c.2577A>C (p.Thr859=) c.2553A>C (p.Thr851=) c.2520A>C (p.Thr840=) c.2463A>C (p.Thr821=) c.2562A>C (p.Thr854=) c.2538A>C (p.Thr846=) c.2373A>C (p.Thr791=) c.2535A>C (p.Thr845=) | |
1 | g.16989720T= | CA1156021026 | ATP13A2 | c.2580A= (p.Thr860=) c.2448A= (p.Thr816=) c.2565A= (p.Thr855=) n.454A= c.168A= (p.Thr56=) c.2577A= (p.Thr859=) c.2553A= (p.Thr851=) c.2520A= (p.Thr840=) c.2463A= (p.Thr821=) c.2562A= (p.Thr854=) c.2538A= (p.Thr846=) c.2373A= (p.Thr791=) c.2535A= (p.Thr845=) | |
1 | g.16989721G>A | CA338239352 | ATP13A2 | c.2579C>T (p.Thr860Ile) c.2447C>T (p.Thr816Ile) c.2564C>T (p.Thr855Ile) n.453C>T c.167C>T (p.Thr56Ile) c.2576C>T (p.Thr859Ile) c.2552C>T (p.Thr851Ile) c.2519C>T (p.Thr840Ile) c.2462C>T (p.Thr821Ile) c.2561C>T (p.Thr854Ile) c.2537C>T (p.Thr846Ile) c.2372C>T (p.Thr791Ile) c.2534C>T (p.Thr845Ile) | |
1 | g.16989721G>C | CA338239367 | ATP13A2 | c.2579C>G (p.Thr860Arg) c.2447C>G (p.Thr816Arg) c.2564C>G (p.Thr855Arg) n.453C>G c.167C>G (p.Thr56Arg) c.2576C>G (p.Thr859Arg) c.2552C>G (p.Thr851Arg) c.2519C>G (p.Thr840Arg) c.2462C>G (p.Thr821Arg) c.2561C>G (p.Thr854Arg) c.2537C>G (p.Thr846Arg) c.2372C>G (p.Thr791Arg) c.2534C>G (p.Thr845Arg) | |
1 | g.16989721G>T | CA338239369 | ATP13A2 | c.2579C>A (p.Thr860Lys) c.2447C>A (p.Thr816Lys) c.2564C>A (p.Thr855Lys) n.453C>A c.167C>A (p.Thr56Lys) c.2576C>A (p.Thr859Lys) c.2552C>A (p.Thr851Lys) c.2519C>A (p.Thr840Lys) c.2462C>A (p.Thr821Lys) c.2561C>A (p.Thr854Lys) c.2537C>A (p.Thr846Lys) c.2372C>A (p.Thr791Lys) c.2534C>A (p.Thr845Lys) | |
1 | g.16989722T>A | CA338239372 | ATP13A2 | c.2578A>T (p.Thr860Ser) c.2446A>T (p.Thr816Ser) c.2563A>T (p.Thr855Ser) n.452A>T c.166A>T (p.Thr56Ser) c.2575A>T (p.Thr859Ser) c.2551A>T (p.Thr851Ser) c.2518A>T (p.Thr840Ser) c.2461A>T (p.Thr821Ser) c.2560A>T (p.Thr854Ser) c.2536A>T (p.Thr846Ser) c.2371A>T (p.Thr791Ser) c.2533A>T (p.Thr845Ser) | |
1 | g.16989722T>C | CA338239384 | ATP13A2 | c.2578A>G (p.Thr860Ala) c.2446A>G (p.Thr816Ala) c.2563A>G (p.Thr855Ala) n.452A>G c.166A>G (p.Thr56Ala) c.2575A>G (p.Thr859Ala) c.2551A>G (p.Thr851Ala) c.2518A>G (p.Thr840Ala) c.2461A>G (p.Thr821Ala) c.2560A>G (p.Thr854Ala) c.2536A>G (p.Thr846Ala) c.2371A>G (p.Thr791Ala) c.2533A>G (p.Thr845Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16989722T>G | CA338239386 | ATP13A2 | c.2578A>C (p.Thr860Pro) c.2446A>C (p.Thr816Pro) c.2563A>C (p.Thr855Pro) n.452A>C c.166A>C (p.Thr56Pro) c.2575A>C (p.Thr859Pro) c.2551A>C (p.Thr851Pro) c.2518A>C (p.Thr840Pro) c.2461A>C (p.Thr821Pro) c.2560A>C (p.Thr854Pro) c.2536A>C (p.Thr846Pro) c.2371A>C (p.Thr791Pro) c.2533A>C (p.Thr845Pro) | |
1 | g.16989722T= | CA1156021032 | ATP13A2 | c.2578A= (p.Thr860=) c.2446A= (p.Thr816=) c.2563A= (p.Thr855=) n.452A= c.166A= (p.Thr56=) c.2575A= (p.Thr859=) c.2551A= (p.Thr851=) c.2518A= (p.Thr840=) c.2461A= (p.Thr821=) c.2560A= (p.Thr854=) c.2536A= (p.Thr846=) c.2371A= (p.Thr791=) c.2533A= (p.Thr845=) | |
1 | g.16989723C>A | CA338239391 | ATP13A2 | c.2577G>T (p.Lys859Asn) c.2445G>T (p.Lys815Asn) c.2562G>T (p.Lys854Asn) n.451G>T c.165G>T (p.Lys55Asn) c.2574G>T (p.Lys858Asn) c.2550G>T (p.Lys850Asn) c.2517G>T (p.Lys839Asn) c.2460G>T (p.Lys820Asn) c.2559G>T (p.Lys853Asn) c.2535G>T (p.Lys845Asn) c.2370G>T (p.Lys790Asn) c.2532G>T (p.Lys844Asn) | |
1 | g.16989723C>G | CA338239400 | ATP13A2 | c.2577G>C (p.Lys859Asn) c.2445G>C (p.Lys815Asn) c.2562G>C (p.Lys854Asn) n.451G>C c.165G>C (p.Lys55Asn) c.2574G>C (p.Lys858Asn) c.2550G>C (p.Lys850Asn) c.2517G>C (p.Lys839Asn) c.2460G>C (p.Lys820Asn) c.2559G>C (p.Lys853Asn) c.2535G>C (p.Lys845Asn) c.2370G>C (p.Lys790Asn) c.2532G>C (p.Lys844Asn) | |
1 | g.16989723C>T | CA416094039 | ATP13A2 | c.2577G>A (p.Lys859=) c.2445G>A (p.Lys815=) c.2562G>A (p.Lys854=) n.451G>A c.165G>A (p.Lys55=) c.2574G>A (p.Lys858=) c.2550G>A (p.Lys850=) c.2517G>A (p.Lys839=) c.2460G>A (p.Lys820=) c.2559G>A (p.Lys853=) c.2535G>A (p.Lys845=) c.2370G>A (p.Lys790=) c.2532G>A (p.Lys844=) | gnomAD v4 |
1 | g.16989724T>A | CA338239426 | ATP13A2 | c.2576A>T (p.Lys859Met) c.2444A>T (p.Lys815Met) c.2561A>T (p.Lys854Met) n.450A>T c.164A>T (p.Lys55Met) c.2573A>T (p.Lys858Met) c.2549A>T (p.Lys850Met) c.2516A>T (p.Lys839Met) c.2459A>T (p.Lys820Met) c.2558A>T (p.Lys853Met) c.2534A>T (p.Lys845Met) c.2369A>T (p.Lys790Met) c.2531A>T (p.Lys844Met) | |
1 | g.16989724T>C | CA338239409 | ATP13A2 | c.2576A>G (p.Lys859Arg) c.2444A>G (p.Lys815Arg) c.2561A>G (p.Lys854Arg) n.450A>G c.164A>G (p.Lys55Arg) c.2573A>G (p.Lys858Arg) c.2549A>G (p.Lys850Arg) c.2516A>G (p.Lys839Arg) c.2459A>G (p.Lys820Arg) c.2558A>G (p.Lys853Arg) c.2534A>G (p.Lys845Arg) c.2369A>G (p.Lys790Arg) c.2531A>G (p.Lys844Arg) | |
1 | g.16989724T>G | CA338239407 | ATP13A2 | c.2576A>C (p.Lys859Thr) c.2444A>C (p.Lys815Thr) c.2561A>C (p.Lys854Thr) n.450A>C c.164A>C (p.Lys55Thr) c.2573A>C (p.Lys858Thr) c.2549A>C (p.Lys850Thr) c.2516A>C (p.Lys839Thr) c.2459A>C (p.Lys820Thr) c.2558A>C (p.Lys853Thr) c.2534A>C (p.Lys845Thr) c.2369A>C (p.Lys790Thr) c.2531A>C (p.Lys844Thr) | |
1 | g.16989725T>A | CA338239430 | ATP13A2 | c.2575A>T (p.Lys859Ter) c.2443A>T (p.Lys815Ter) c.2560A>T (p.Lys854Ter) n.449A>T c.163A>T (p.Lys55Ter) c.2572A>T (p.Lys858Ter) c.2548A>T (p.Lys850Ter) c.2515A>T (p.Lys839Ter) c.2458A>T (p.Lys820Ter) c.2557A>T (p.Lys853Ter) c.2533A>T (p.Lys845Ter) c.2368A>T (p.Lys790Ter) c.2530A>T (p.Lys844Ter) | |
1 | g.16989725T>C | CA338239440 | ATP13A2 | c.2575A>G (p.Lys859Glu) c.2443A>G (p.Lys815Glu) c.2560A>G (p.Lys854Glu) n.449A>G c.163A>G (p.Lys55Glu) c.2572A>G (p.Lys858Glu) c.2548A>G (p.Lys850Glu) c.2515A>G (p.Lys839Glu) c.2458A>G (p.Lys820Glu) c.2557A>G (p.Lys853Glu) c.2533A>G (p.Lys845Glu) c.2368A>G (p.Lys790Glu) c.2530A>G (p.Lys844Glu) | |
1 | g.16989725T>G | CA338239443 | ATP13A2 | c.2575A>C (p.Lys859Gln) c.2443A>C (p.Lys815Gln) c.2560A>C (p.Lys854Gln) n.449A>C c.163A>C (p.Lys55Gln) c.2572A>C (p.Lys858Gln) c.2548A>C (p.Lys850Gln) c.2515A>C (p.Lys839Gln) c.2458A>C (p.Lys820Gln) c.2557A>C (p.Lys853Gln) c.2533A>C (p.Lys845Gln) c.2368A>C (p.Lys790Gln) c.2530A>C (p.Lys844Gln) | |
1 | g.16989726C>A | CA338239452 | ATP13A2 | c.2574G>T (p.Gln858His) c.2442G>T (p.Gln814His) c.2559G>T (p.Gln853His) n.448G>T c.162G>T (p.Gln54His) c.2571G>T (p.Gln857His) c.2547G>T (p.Gln849His) c.2514G>T (p.Gln838His) c.2457G>T (p.Gln819His) c.2556G>T (p.Gln852His) c.2532G>T (p.Gln844His) c.2367G>T (p.Gln789His) c.2529G>T (p.Gln843His) | |
1 | g.16989726C= | CA1156021035 | ATP13A2 | c.2574G= (p.Gln858=) c.2442G= (p.Gln814=) c.2559G= (p.Gln853=) n.448G= c.162G= (p.Gln54=) c.2571G= (p.Gln857=) c.2547G= (p.Gln849=) c.2514G= (p.Gln838=) c.2457G= (p.Gln819=) c.2556G= (p.Gln852=) c.2532G= (p.Gln844=) c.2367G= (p.Gln789=) c.2529G= (p.Gln843=) | |
1 | g.16989726C>G | CA338239466 | ATP13A2 | c.2574G>C (p.Gln858His) c.2442G>C (p.Gln814His) c.2559G>C (p.Gln853His) n.448G>C c.162G>C (p.Gln54His) c.2571G>C (p.Gln857His) c.2547G>C (p.Gln849His) c.2514G>C (p.Gln838His) c.2457G>C (p.Gln819His) c.2556G>C (p.Gln852His) c.2532G>C (p.Gln844His) c.2367G>C (p.Gln789His) c.2529G>C (p.Gln843His) | |
1 | g.16989726C>T | CA416094043 | ATP13A2 | c.2574G>A (p.Gln858=) c.2442G>A (p.Gln814=) c.2559G>A (p.Gln853=) n.448G>A c.162G>A (p.Gln54=) c.2571G>A (p.Gln857=) c.2547G>A (p.Gln849=) c.2514G>A (p.Gln838=) c.2457G>A (p.Gln819=) c.2556G>A (p.Gln852=) c.2532G>A (p.Gln844=) c.2367G>A (p.Gln789=) c.2529G>A (p.Gln843=) | dbSNP gnomAD v2 |
1 | g.16989727T>A | CA338239470 | ATP13A2 | c.2573A>T (p.Gln858Leu) c.2441A>T (p.Gln814Leu) c.2558A>T (p.Gln853Leu) n.447A>T c.161A>T (p.Gln54Leu) c.2570A>T (p.Gln857Leu) c.2546A>T (p.Gln849Leu) c.2513A>T (p.Gln838Leu) c.2456A>T (p.Gln819Leu) c.2555A>T (p.Gln852Leu) c.2531A>T (p.Gln844Leu) c.2366A>T (p.Gln789Leu) c.2528A>T (p.Gln843Leu) | |
1 | g.16989727T>C | CA338239474 | ATP13A2 | c.2573A>G (p.Gln858Arg) c.2441A>G (p.Gln814Arg) c.2558A>G (p.Gln853Arg) n.447A>G c.161A>G (p.Gln54Arg) c.2570A>G (p.Gln857Arg) c.2546A>G (p.Gln849Arg) c.2513A>G (p.Gln838Arg) c.2456A>G (p.Gln819Arg) c.2555A>G (p.Gln852Arg) c.2531A>G (p.Gln844Arg) c.2366A>G (p.Gln789Arg) c.2528A>G (p.Gln843Arg) | |
1 | g.16989727T>G | CA338239485 | ATP13A2 | c.2573A>C (p.Gln858Pro) c.2441A>C (p.Gln814Pro) c.2558A>C (p.Gln853Pro) n.447A>C c.161A>C (p.Gln54Pro) c.2570A>C (p.Gln857Pro) c.2546A>C (p.Gln849Pro) c.2513A>C (p.Gln838Pro) c.2456A>C (p.Gln819Pro) c.2555A>C (p.Gln852Pro) c.2531A>C (p.Gln844Pro) c.2366A>C (p.Gln789Pro) c.2528A>C (p.Gln843Pro) | |
1 | g.16989728G>A | CA338239486 | ATP13A2 | c.2572C>T (p.Gln858Ter) c.2440C>T (p.Gln814Ter) c.2557C>T (p.Gln853Ter) n.446C>T c.160C>T (p.Gln54Ter) c.2569C>T (p.Gln857Ter) c.2545C>T (p.Gln849Ter) c.2512C>T (p.Gln838Ter) c.2455C>T (p.Gln819Ter) c.2554C>T (p.Gln852Ter) c.2530C>T (p.Gln844Ter) c.2365C>T (p.Gln789Ter) c.2527C>T (p.Gln843Ter) | dbSNP gnomAD v2 |
1 | g.16989728G>C | CA338239503 | ATP13A2 | c.2572C>G (p.Gln858Glu) c.2440C>G (p.Gln814Glu) c.2557C>G (p.Gln853Glu) n.446C>G c.160C>G (p.Gln54Glu) c.2569C>G (p.Gln857Glu) c.2545C>G (p.Gln849Glu) c.2512C>G (p.Gln838Glu) c.2455C>G (p.Gln819Glu) c.2554C>G (p.Gln852Glu) c.2530C>G (p.Gln844Glu) c.2365C>G (p.Gln789Glu) c.2527C>G (p.Gln843Glu) | |
1 | g.16989728G= | CA1156021039 | ATP13A2 | c.2572C= (p.Gln858=) c.2440C= (p.Gln814=) c.2557C= (p.Gln853=) n.446C= c.160C= (p.Gln54=) c.2569C= (p.Gln857=) c.2545C= (p.Gln849=) c.2512C= (p.Gln838=) c.2455C= (p.Gln819=) c.2554C= (p.Gln852=) c.2530C= (p.Gln844=) c.2365C= (p.Gln789=) c.2527C= (p.Gln843=) | |
1 | g.16989728G>T | CA338239510 | ATP13A2 | c.2572C>A (p.Gln858Lys) c.2440C>A (p.Gln814Lys) c.2557C>A (p.Gln853Lys) n.446C>A c.160C>A (p.Gln54Lys) c.2569C>A (p.Gln857Lys) c.2545C>A (p.Gln849Lys) c.2512C>A (p.Gln838Lys) c.2455C>A (p.Gln819Lys) c.2554C>A (p.Gln852Lys) c.2530C>A (p.Gln844Lys) c.2365C>A (p.Gln789Lys) c.2527C>A (p.Gln843Lys) | |
1 | g.16989729C>A | CA338239513 | ATP13A2 | c.2571G>T (p.Glu857Asp) c.2439G>T (p.Glu813Asp) c.2556G>T (p.Glu852Asp) n.445G>T c.159G>T (p.Glu53Asp) c.2568G>T (p.Glu856Asp) c.2544G>T (p.Glu848Asp) c.2511G>T (p.Glu837Asp) c.2454G>T (p.Glu818Asp) c.2553G>T (p.Glu851Asp) c.2529G>T (p.Glu843Asp) c.2364G>T (p.Glu788Asp) c.2526G>T (p.Glu842Asp) | |
1 | g.16989729C>G | CA338239530 | ATP13A2 | c.2571G>C (p.Glu857Asp) c.2439G>C (p.Glu813Asp) c.2556G>C (p.Glu852Asp) n.445G>C c.159G>C (p.Glu53Asp) c.2568G>C (p.Glu856Asp) c.2544G>C (p.Glu848Asp) c.2511G>C (p.Glu837Asp) c.2454G>C (p.Glu818Asp) c.2553G>C (p.Glu851Asp) c.2529G>C (p.Glu843Asp) c.2364G>C (p.Glu788Asp) c.2526G>C (p.Glu842Asp) | |
1 | g.16989729C>T | CA416094044 | ATP13A2 | c.2571G>A (p.Glu857=) c.2439G>A (p.Glu813=) c.2556G>A (p.Glu852=) n.445G>A c.159G>A (p.Glu53=) c.2568G>A (p.Glu856=) c.2544G>A (p.Glu848=) c.2511G>A (p.Glu837=) c.2454G>A (p.Glu818=) c.2553G>A (p.Glu851=) c.2529G>A (p.Glu843=) c.2364G>A (p.Glu788=) c.2526G>A (p.Glu842=) | gnomAD v4 |
1 | g.16989730T>A | CA338239548 | ATP13A2 | c.2570A>T (p.Glu857Val) c.2438A>T (p.Glu813Val) c.2555A>T (p.Glu852Val) n.444A>T c.158A>T (p.Glu53Val) c.2567A>T (p.Glu856Val) c.2543A>T (p.Glu848Val) c.2510A>T (p.Glu837Val) c.2453A>T (p.Glu818Val) c.2552A>T (p.Glu851Val) c.2528A>T (p.Glu843Val) c.2363A>T (p.Glu788Val) c.2525A>T (p.Glu842Val) | |
1 | g.16989730T>C | CA338239542 | ATP13A2 | c.2570A>G (p.Glu857Gly) c.2438A>G (p.Glu813Gly) c.2555A>G (p.Glu852Gly) n.444A>G c.158A>G (p.Glu53Gly) c.2567A>G (p.Glu856Gly) c.2543A>G (p.Glu848Gly) c.2510A>G (p.Glu837Gly) c.2453A>G (p.Glu818Gly) c.2552A>G (p.Glu851Gly) c.2528A>G (p.Glu843Gly) c.2363A>G (p.Glu788Gly) c.2525A>G (p.Glu842Gly) | |
1 | g.16989730T>G | CA338239535 | ATP13A2 | c.2570A>C (p.Glu857Ala) c.2438A>C (p.Glu813Ala) c.2555A>C (p.Glu852Ala) n.444A>C c.158A>C (p.Glu53Ala) c.2567A>C (p.Glu856Ala) c.2543A>C (p.Glu848Ala) c.2510A>C (p.Glu837Ala) c.2453A>C (p.Glu818Ala) c.2552A>C (p.Glu851Ala) c.2528A>C (p.Glu843Ala) c.2363A>C (p.Glu788Ala) c.2525A>C (p.Glu842Ala) | |
1 | g.16989731C>A | CA338239573 | ATP13A2 | c.2569G>T (p.Glu857Ter) c.2437G>T (p.Glu813Ter) c.2554G>T (p.Glu852Ter) n.443G>T c.157G>T (p.Glu53Ter) c.2566G>T (p.Glu856Ter) c.2542G>T (p.Glu848Ter) c.2509G>T (p.Glu837Ter) c.2452G>T (p.Glu818Ter) c.2551G>T (p.Glu851Ter) c.2527G>T (p.Glu843Ter) c.2362G>T (p.Glu788Ter) c.2524G>T (p.Glu842Ter) | |
1 | g.16989731C= | CA1156021042 | ATP13A2 | c.2569G= (p.Glu857=) c.2437G= (p.Glu813=) c.2554G= (p.Glu852=) n.443G= c.157G= (p.Glu53=) c.2566G= (p.Glu856=) c.2542G= (p.Glu848=) c.2509G= (p.Glu837=) c.2452G= (p.Glu818=) c.2551G= (p.Glu851=) c.2527G= (p.Glu843=) c.2362G= (p.Glu788=) c.2524G= (p.Glu842=) | |
1 | g.16989731C>G | CA338239552 | ATP13A2 | c.2569G>C (p.Glu857Gln) c.2437G>C (p.Glu813Gln) c.2554G>C (p.Glu852Gln) n.443G>C c.157G>C (p.Glu53Gln) c.2566G>C (p.Glu856Gln) c.2542G>C (p.Glu848Gln) c.2509G>C (p.Glu837Gln) c.2452G>C (p.Glu818Gln) c.2551G>C (p.Glu851Gln) c.2527G>C (p.Glu843Gln) c.2362G>C (p.Glu788Gln) c.2524G>C (p.Glu842Gln) | gnomAD v4 |
1 | g.16989731C>T | CA338239576 | ATP13A2 | c.2569G>A (p.Glu857Lys) c.2437G>A (p.Glu813Lys) c.2554G>A (p.Glu852Lys) n.443G>A c.157G>A (p.Glu53Lys) c.2566G>A (p.Glu856Lys) c.2542G>A (p.Glu848Lys) c.2509G>A (p.Glu837Lys) c.2452G>A (p.Glu818Lys) c.2551G>A (p.Glu851Lys) c.2527G>A (p.Glu843Lys) c.2362G>A (p.Glu788Lys) c.2524G>A (p.Glu842Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16989732A>C | CA416094049 | ATP13A2 | c.2568T>G (p.Pro856=) c.2436T>G (p.Pro812=) c.2553T>G (p.Pro851=) n.442T>G c.156T>G (p.Pro52=) c.2565T>G (p.Pro855=) c.2541T>G (p.Pro847=) c.2508T>G (p.Pro836=) c.2451T>G (p.Pro817=) c.2550T>G (p.Pro850=) c.2526T>G (p.Pro842=) c.2361T>G (p.Pro787=) c.2523T>G (p.Pro841=) | |
1 | g.16989732A>G | CA416094047 | ATP13A2 | c.2568T>C (p.Pro856=) c.2436T>C (p.Pro812=) c.2553T>C (p.Pro851=) n.442T>C c.156T>C (p.Pro52=) c.2565T>C (p.Pro855=) c.2541T>C (p.Pro847=) c.2508T>C (p.Pro836=) c.2451T>C (p.Pro817=) c.2550T>C (p.Pro850=) c.2526T>C (p.Pro842=) c.2361T>C (p.Pro787=) c.2523T>C (p.Pro841=) | |
1 | g.16989732A>T | CA416094048 | ATP13A2 | c.2568T>A (p.Pro856=) c.2436T>A (p.Pro812=) c.2553T>A (p.Pro851=) n.442T>A c.156T>A (p.Pro52=) c.2565T>A (p.Pro855=) c.2541T>A (p.Pro847=) c.2508T>A (p.Pro836=) c.2451T>A (p.Pro817=) c.2550T>A (p.Pro850=) c.2526T>A (p.Pro842=) c.2361T>A (p.Pro787=) c.2523T>A (p.Pro841=) | |
1 | g.16989732_16989733del | CA2573105839 | ATP13A2 | c.2567_2568del (p.Pro856ArgfsTer26) c.2435_2436del (p.Pro812ArgfsTer26) c.2552_2553del (p.Pro851ArgfsTer26) n.441_442del c.155_156del (p.Pro52ArgfsTer26) c.2564_2565del (p.Pro855ArgfsTer26) c.2540_2541del (p.Pro847ArgfsTer26) c.2507_2508del (p.Pro836ArgfsTer26) c.2450_2451del (p.Pro817ArgfsTer26) c.2549_2550del (p.Pro850ArgfsTer26) c.2525_2526del (p.Pro842ArgfsTer26) c.2360_2361del (p.Pro787ArgfsTer26) c.2522_2523del (p.Pro841ArgfsTer26) | |
1 | g.16989733G>A | CA338239581 | ATP13A2 | c.2567C>T (p.Pro856Leu) c.2435C>T (p.Pro812Leu) c.2552C>T (p.Pro851Leu) n.441C>T c.155C>T (p.Pro52Leu) c.2564C>T (p.Pro855Leu) c.2540C>T (p.Pro847Leu) c.2507C>T (p.Pro836Leu) c.2450C>T (p.Pro817Leu) c.2549C>T (p.Pro850Leu) c.2525C>T (p.Pro842Leu) c.2360C>T (p.Pro787Leu) c.2522C>T (p.Pro841Leu) | |
1 | g.16989733G>C | CA338239587 | ATP13A2 | c.2567C>G (p.Pro856Arg) c.2435C>G (p.Pro812Arg) c.2552C>G (p.Pro851Arg) n.441C>G c.155C>G (p.Pro52Arg) c.2564C>G (p.Pro855Arg) c.2540C>G (p.Pro847Arg) c.2507C>G (p.Pro836Arg) c.2450C>G (p.Pro817Arg) c.2549C>G (p.Pro850Arg) c.2525C>G (p.Pro842Arg) c.2360C>G (p.Pro787Arg) c.2522C>G (p.Pro841Arg) | |
1 | g.16989733G>T | CA338239584 | ATP13A2 | c.2567C>A (p.Pro856His) c.2435C>A (p.Pro812His) c.2552C>A (p.Pro851His) n.441C>A c.155C>A (p.Pro52His) c.2564C>A (p.Pro855His) c.2540C>A (p.Pro847His) c.2507C>A (p.Pro836His) c.2450C>A (p.Pro817His) c.2549C>A (p.Pro850His) c.2525C>A (p.Pro842His) c.2360C>A (p.Pro787His) c.2522C>A (p.Pro841His) | |
1 | g.16989734G>A | CA338239591 | ATP13A2 | c.2566C>T (p.Pro856Ser) c.2434C>T (p.Pro812Ser) c.2551C>T (p.Pro851Ser) n.440C>T c.154C>T (p.Pro52Ser) c.2563C>T (p.Pro855Ser) c.2539C>T (p.Pro847Ser) c.2506C>T (p.Pro836Ser) c.2449C>T (p.Pro817Ser) c.2548C>T (p.Pro850Ser) c.2524C>T (p.Pro842Ser) c.2359C>T (p.Pro787Ser) c.2521C>T (p.Pro841Ser) | |
1 | g.16989734G>C | CA338239601 | ATP13A2 | c.2566C>G (p.Pro856Ala) c.2434C>G (p.Pro812Ala) c.2551C>G (p.Pro851Ala) n.440C>G c.154C>G (p.Pro52Ala) c.2563C>G (p.Pro855Ala) c.2539C>G (p.Pro847Ala) c.2506C>G (p.Pro836Ala) c.2449C>G (p.Pro817Ala) c.2548C>G (p.Pro850Ala) c.2524C>G (p.Pro842Ala) c.2359C>G (p.Pro787Ala) c.2521C>G (p.Pro841Ala) | |
1 | g.16989734G>T | CA338239604 | ATP13A2 | c.2566C>A (p.Pro856Thr) c.2434C>A (p.Pro812Thr) c.2551C>A (p.Pro851Thr) n.440C>A c.154C>A (p.Pro52Thr) c.2563C>A (p.Pro855Thr) c.2539C>A (p.Pro847Thr) c.2506C>A (p.Pro836Thr) c.2449C>A (p.Pro817Thr) c.2548C>A (p.Pro850Thr) c.2524C>A (p.Pro842Thr) c.2359C>A (p.Pro787Thr) c.2521C>A (p.Pro841Thr) | |
1 | g.16989735G>A | CA416094055 | ATP13A2 | c.2565C>T (p.Ala855=) c.2433C>T (p.Ala811=) c.2550C>T (p.Ala850=) n.439C>T c.153C>T (p.Ala51=) c.2562C>T (p.Ala854=) c.2538C>T (p.Ala846=) c.2505C>T (p.Ala835=) c.2448C>T (p.Ala816=) c.2547C>T (p.Ala849=) c.2523C>T (p.Ala841=) c.2358C>T (p.Ala786=) c.2520C>T (p.Ala840=) | gnomAD v4 |
1 | g.16989735G>C | CA416094056 | ATP13A2 | c.2565C>G (p.Ala855=) c.2433C>G (p.Ala811=) c.2550C>G (p.Ala850=) n.439C>G c.153C>G (p.Ala51=) c.2562C>G (p.Ala854=) c.2538C>G (p.Ala846=) c.2505C>G (p.Ala835=) c.2448C>G (p.Ala816=) c.2547C>G (p.Ala849=) c.2523C>G (p.Ala841=) c.2358C>G (p.Ala786=) c.2520C>G (p.Ala840=) | |
1 | g.16989735G>T | CA416094053 | ATP13A2 | c.2565C>A (p.Ala855=) c.2433C>A (p.Ala811=) c.2550C>A (p.Ala850=) n.439C>A c.153C>A (p.Ala51=) c.2562C>A (p.Ala854=) c.2538C>A (p.Ala846=) c.2505C>A (p.Ala835=) c.2448C>A (p.Ala816=) c.2547C>A (p.Ala849=) c.2523C>A (p.Ala841=) c.2358C>A (p.Ala786=) c.2520C>A (p.Ala840=) | |
1 | g.16989736G>A | CA338239609 | ATP13A2 | c.2564C>T (p.Ala855Val) c.2432C>T (p.Ala811Val) c.2549C>T (p.Ala850Val) n.438C>T c.152C>T (p.Ala51Val) c.2561C>T (p.Ala854Val) c.2537C>T (p.Ala846Val) c.2504C>T (p.Ala835Val) c.2447C>T (p.Ala816Val) c.2546C>T (p.Ala849Val) c.2522C>T (p.Ala841Val) c.2357C>T (p.Ala786Val) c.2519C>T (p.Ala840Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16989736G>C | CA18628799 | ATP13A2 | c.2564C>G (p.Ala855Gly) c.2432C>G (p.Ala811Gly) c.2549C>G (p.Ala850Gly) n.438C>G c.152C>G (p.Ala51Gly) c.2561C>G (p.Ala854Gly) c.2537C>G (p.Ala846Gly) c.2504C>G (p.Ala835Gly) c.2447C>G (p.Ala816Gly) c.2546C>G (p.Ala849Gly) c.2522C>G (p.Ala841Gly) c.2357C>G (p.Ala786Gly) c.2519C>G (p.Ala840Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16989736G= | CA1156021047 | ATP13A2 | c.2564C= (p.Ala855=) c.2432C= (p.Ala811=) c.2549C= (p.Ala850=) n.438C= c.152C= (p.Ala51=) c.2561C= (p.Ala854=) c.2537C= (p.Ala846=) c.2504C= (p.Ala835=) c.2447C= (p.Ala816=) c.2546C= (p.Ala849=) c.2522C= (p.Ala841=) c.2357C= (p.Ala786=) c.2519C= (p.Ala840=) | |
1 | g.16989736G>T | CA636782 | ATP13A2 | c.2564C>A (p.Ala855Asp) c.2432C>A (p.Ala811Asp) c.2549C>A (p.Ala850Asp) n.438C>A c.152C>A (p.Ala51Asp) c.2561C>A (p.Ala854Asp) c.2537C>A (p.Ala846Asp) c.2504C>A (p.Ala835Asp) c.2447C>A (p.Ala816Asp) c.2546C>A (p.Ala849Asp) c.2522C>A (p.Ala841Asp) c.2357C>A (p.Ala786Asp) c.2519C>A (p.Ala840Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16989737C>A | CA338239614 | ATP13A2 | c.2563G>T (p.Ala855Ser) c.2431G>T (p.Ala811Ser) c.2548G>T (p.Ala850Ser) n.437G>T c.151G>T (p.Ala51Ser) c.2560G>T (p.Ala854Ser) c.2536G>T (p.Ala846Ser) c.2503G>T (p.Ala835Ser) c.2446G>T (p.Ala816Ser) c.2545G>T (p.Ala849Ser) c.2521G>T (p.Ala841Ser) c.2356G>T (p.Ala786Ser) c.2518G>T (p.Ala840Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16989737C= | CA1156021053 | ATP13A2 | c.2563G= (p.Ala855=) c.2431G= (p.Ala811=) c.2548G= (p.Ala850=) n.437G= c.151G= (p.Ala51=) c.2560G= (p.Ala854=) c.2536G= (p.Ala846=) c.2503G= (p.Ala835=) c.2446G= (p.Ala816=) c.2545G= (p.Ala849=) c.2521G= (p.Ala841=) c.2356G= (p.Ala786=) c.2518G= (p.Ala840=) | |
1 | g.16989737C>G | CA338239615 | ATP13A2 | c.2563G>C (p.Ala855Pro) c.2431G>C (p.Ala811Pro) c.2548G>C (p.Ala850Pro) n.437G>C c.151G>C (p.Ala51Pro) c.2560G>C (p.Ala854Pro) c.2536G>C (p.Ala846Pro) c.2503G>C (p.Ala835Pro) c.2446G>C (p.Ala816Pro) c.2545G>C (p.Ala849Pro) c.2521G>C (p.Ala841Pro) c.2356G>C (p.Ala786Pro) c.2518G>C (p.Ala840Pro) | |
1 | g.16989737C>T | CA10608214 | ATP13A2 | c.2563G>A (p.Ala855Thr) c.2431G>A (p.Ala811Thr) c.2548G>A (p.Ala850Thr) n.437G>A c.151G>A (p.Ala51Thr) c.2560G>A (p.Ala854Thr) c.2536G>A (p.Ala846Thr) c.2503G>A (p.Ala835Thr) c.2446G>A (p.Ala816Thr) c.2545G>A (p.Ala849Thr) c.2521G>A (p.Ala841Thr) c.2356G>A (p.Ala786Thr) c.2518G>A (p.Ala840Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.16989738C>A | CA338239619 | ATP13A2 | c.2562G>T (p.Met854Ile) c.2430G>T (p.Met810Ile) c.2547G>T (p.Met849Ile) n.436G>T c.150G>T (p.Met50Ile) c.2559G>T (p.Met853Ile) c.2535G>T (p.Met845Ile) c.2502G>T (p.Met834Ile) c.2445G>T (p.Met815Ile) c.2544G>T (p.Met848Ile) c.2520G>T (p.Met840Ile) c.2355G>T (p.Met785Ile) c.2517G>T (p.Met839Ile) | |
1 | g.16989738C>G | CA338239623 | ATP13A2 | c.2562G>C (p.Met854Ile) c.2430G>C (p.Met810Ile) c.2547G>C (p.Met849Ile) n.436G>C c.150G>C (p.Met50Ile) c.2559G>C (p.Met853Ile) c.2535G>C (p.Met845Ile) c.2502G>C (p.Met834Ile) c.2445G>C (p.Met815Ile) c.2544G>C (p.Met848Ile) c.2520G>C (p.Met840Ile) c.2355G>C (p.Met785Ile) c.2517G>C (p.Met839Ile) | |
1 | g.16989738C>T | CA338239626 | ATP13A2 | c.2562G>A (p.Met854Ile) c.2430G>A (p.Met810Ile) c.2547G>A (p.Met849Ile) n.436G>A c.150G>A (p.Met50Ile) c.2559G>A (p.Met853Ile) c.2535G>A (p.Met845Ile) c.2502G>A (p.Met834Ile) c.2445G>A (p.Met815Ile) c.2544G>A (p.Met848Ile) c.2520G>A (p.Met840Ile) c.2355G>A (p.Met785Ile) c.2517G>A (p.Met839Ile) | |
1 | g.16989739A= | CA1148224177 | ATP13A2 | c.2561T= (p.Met854=) c.2429T= (p.Met810=) c.2546T= (p.Met849=) n.435T= c.149T= (p.Met50=) c.2558T= (p.Met853=) c.2534T= (p.Met845=) c.2501T= (p.Met834=) c.2444T= (p.Met815=) c.2543T= (p.Met848=) c.2519T= (p.Met840=) c.2354T= (p.Met785=) c.2516T= (p.Met839=) | |
1 | g.16989739A>C | CA264798 | ATP13A2 | c.2561T>G (p.Met854Arg) c.2429T>G (p.Met810Arg) c.2546T>G (p.Met849Arg) n.435T>G c.149T>G (p.Met50Arg) c.2558T>G (p.Met853Arg) c.2534T>G (p.Met845Arg) c.2501T>G (p.Met834Arg) c.2444T>G (p.Met815Arg) c.2543T>G (p.Met848Arg) c.2519T>G (p.Met840Arg) c.2354T>G (p.Met785Arg) c.2516T>G (p.Met839Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.16989739A>G | CA338239631 | ATP13A2 | c.2561T>C (p.Met854Thr) c.2429T>C (p.Met810Thr) c.2546T>C (p.Met849Thr) n.435T>C c.149T>C (p.Met50Thr) c.2558T>C (p.Met853Thr) c.2534T>C (p.Met845Thr) c.2501T>C (p.Met834Thr) c.2444T>C (p.Met815Thr) c.2543T>C (p.Met848Thr) c.2519T>C (p.Met840Thr) c.2354T>C (p.Met785Thr) c.2516T>C (p.Met839Thr) | |
1 | g.16989739A>T | CA338239630 | ATP13A2 | c.2561T>A (p.Met854Lys) c.2429T>A (p.Met810Lys) c.2546T>A (p.Met849Lys) n.435T>A c.149T>A (p.Met50Lys) c.2558T>A (p.Met853Lys) c.2534T>A (p.Met845Lys) c.2501T>A (p.Met834Lys) c.2444T>A (p.Met815Lys) c.2543T>A (p.Met848Lys) c.2519T>A (p.Met840Lys) c.2354T>A (p.Met785Lys) c.2516T>A (p.Met839Lys) | |
1 | g.16989740T>A | CA338239632 | ATP13A2 | c.2560A>T (p.Met854Leu) c.2428A>T (p.Met810Leu) c.2545A>T (p.Met849Leu) n.434A>T c.148A>T (p.Met50Leu) c.2557A>T (p.Met853Leu) c.2533A>T (p.Met845Leu) c.2500A>T (p.Met834Leu) c.2443A>T (p.Met815Leu) c.2542A>T (p.Met848Leu) c.2518A>T (p.Met840Leu) c.2353A>T (p.Met785Leu) c.2515A>T (p.Met839Leu) | |
1 | g.16989740T>C | CA636783 | ATP13A2 | c.2560A>G (p.Met854Val) c.2428A>G (p.Met810Val) c.2545A>G (p.Met849Val) n.434A>G c.148A>G (p.Met50Val) c.2557A>G (p.Met853Val) c.2533A>G (p.Met845Val) c.2500A>G (p.Met834Val) c.2443A>G (p.Met815Val) c.2542A>G (p.Met848Val) c.2518A>G (p.Met840Val) c.2353A>G (p.Met785Val) c.2515A>G (p.Met839Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16989740T>G | CA338239636 | ATP13A2 | c.2560A>C (p.Met854Leu) c.2428A>C (p.Met810Leu) c.2545A>C (p.Met849Leu) n.434A>C c.148A>C (p.Met50Leu) c.2557A>C (p.Met853Leu) c.2533A>C (p.Met845Leu) c.2500A>C (p.Met834Leu) c.2443A>C (p.Met815Leu) c.2542A>C (p.Met848Leu) c.2518A>C (p.Met840Leu) c.2353A>C (p.Met785Leu) c.2515A>C (p.Met839Leu) | |
1 | g.16989740T= | CA1156021066 | ATP13A2 | c.2560A= (p.Met854=) c.2428A= (p.Met810=) c.2545A= (p.Met849=) n.434A= c.148A= (p.Met50=) c.2557A= (p.Met853=) c.2533A= (p.Met845=) c.2500A= (p.Met834=) c.2443A= (p.Met815=) c.2542A= (p.Met848=) c.2518A= (p.Met840=) c.2353A= (p.Met785=) c.2515A= (p.Met839=) | |
1 | g.16989741G>A | CA416094060 | ATP13A2 | c.2559C>T (p.Arg853=) c.2427C>T (p.Arg809=) c.2544C>T (p.Arg848=) n.433C>T c.147C>T (p.Arg49=) c.2556C>T (p.Arg852=) c.2532C>T (p.Arg844=) c.2499C>T (p.Arg833=) c.2442C>T (p.Arg814=) c.2541C>T (p.Arg847=) c.2517C>T (p.Arg839=) c.2352C>T (p.Arg784=) c.2514C>T (p.Arg838=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16989741G>C | CA416094061 | ATP13A2 | c.2559C>G (p.Arg853=) c.2427C>G (p.Arg809=) c.2544C>G (p.Arg848=) n.433C>G c.147C>G (p.Arg49=) c.2556C>G (p.Arg852=) c.2532C>G (p.Arg844=) c.2499C>G (p.Arg833=) c.2442C>G (p.Arg814=) c.2541C>G (p.Arg847=) c.2517C>G (p.Arg839=) c.2352C>G (p.Arg784=) c.2514C>G (p.Arg838=) | |
1 | g.16989741G= | CA1156021071 | ATP13A2 | c.2559C= (p.Arg853=) c.2427C= (p.Arg809=) c.2544C= (p.Arg848=) n.433C= c.147C= (p.Arg49=) c.2556C= (p.Arg852=) c.2532C= (p.Arg844=) c.2499C= (p.Arg833=) c.2442C= (p.Arg814=) c.2541C= (p.Arg847=) c.2517C= (p.Arg839=) c.2352C= (p.Arg784=) c.2514C= (p.Arg838=) | |
1 | g.16989741G>T | CA416094062 | ATP13A2 | c.2559C>A (p.Arg853=) c.2427C>A (p.Arg809=) c.2544C>A (p.Arg848=) n.433C>A c.147C>A (p.Arg49=) c.2556C>A (p.Arg852=) c.2532C>A (p.Arg844=) c.2499C>A (p.Arg833=) c.2442C>A (p.Arg814=) c.2541C>A (p.Arg847=) c.2517C>A (p.Arg839=) c.2352C>A (p.Arg784=) c.2514C>A (p.Arg838=) | |
1 | g.16989742C>A | CA338239655 | ATP13A2 | c.2558G>T (p.Arg853Leu) c.2426G>T (p.Arg809Leu) c.2543G>T (p.Arg848Leu) n.432G>T c.146G>T (p.Arg49Leu) c.2555G>T (p.Arg852Leu) c.2531G>T (p.Arg844Leu) c.2498G>T (p.Arg833Leu) c.2441G>T (p.Arg814Leu) c.2540G>T (p.Arg847Leu) c.2516G>T (p.Arg839Leu) c.2351G>T (p.Arg784Leu) c.2513G>T (p.Arg838Leu) | dbSNP |
1 | g.16989742C= | CA1148273885 | ATP13A2 | c.2558G= (p.Arg853=) c.2426G= (p.Arg809=) c.2543G= (p.Arg848=) n.432G= c.146G= (p.Arg49=) c.2555G= (p.Arg852=) c.2531G= (p.Arg844=) c.2498G= (p.Arg833=) c.2441G= (p.Arg814=) c.2540G= (p.Arg847=) c.2516G= (p.Arg839=) c.2351G= (p.Arg784=) c.2513G= (p.Arg838=) | |
1 | g.16989742C>G | CA338239659 | ATP13A2 | c.2558G>C (p.Arg853Pro) c.2426G>C (p.Arg809Pro) c.2543G>C (p.Arg848Pro) n.432G>C c.146G>C (p.Arg49Pro) c.2555G>C (p.Arg852Pro) c.2531G>C (p.Arg844Pro) c.2498G>C (p.Arg833Pro) c.2441G>C (p.Arg814Pro) c.2540G>C (p.Arg847Pro) c.2516G>C (p.Arg839Pro) c.2351G>C (p.Arg784Pro) c.2513G>C (p.Arg838Pro) | |
1 | g.16989742C>T | CA636784 | ATP13A2 | c.2558G>A (p.Arg853His) c.2426G>A (p.Arg809His) c.2543G>A (p.Arg848His) n.432G>A c.146G>A (p.Arg49His) c.2555G>A (p.Arg852His) c.2531G>A (p.Arg844His) c.2498G>A (p.Arg833His) c.2441G>A (p.Arg814His) c.2540G>A (p.Arg847His) c.2516G>A (p.Arg839His) c.2351G>A (p.Arg784His) c.2513G>A (p.Arg838His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16989743G>A | CA636785 | ATP13A2 | c.2557C>T (p.Arg853Cys) c.2425C>T (p.Arg809Cys) c.2542C>T (p.Arg848Cys) n.431C>T c.145C>T (p.Arg49Cys) c.2554C>T (p.Arg852Cys) c.2530C>T (p.Arg844Cys) c.2497C>T (p.Arg833Cys) c.2440C>T (p.Arg814Cys) c.2539C>T (p.Arg847Cys) c.2515C>T (p.Arg839Cys) c.2350C>T (p.Arg784Cys) c.2512C>T (p.Arg838Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16989743G>C | CA338239660 | ATP13A2 | c.2557C>G (p.Arg853Gly) c.2425C>G (p.Arg809Gly) c.2542C>G (p.Arg848Gly) n.431C>G c.145C>G (p.Arg49Gly) c.2554C>G (p.Arg852Gly) c.2530C>G (p.Arg844Gly) c.2497C>G (p.Arg833Gly) c.2440C>G (p.Arg814Gly) c.2539C>G (p.Arg847Gly) c.2515C>G (p.Arg839Gly) c.2350C>G (p.Arg784Gly) c.2512C>G (p.Arg838Gly) | ClinVar dbSNP gnomAD v4 |
1 | g.16989743G= | CA1156021084 | ATP13A2 | c.2557C= (p.Arg853=) c.2425C= (p.Arg809=) c.2542C= (p.Arg848=) n.431C= c.145C= (p.Arg49=) c.2554C= (p.Arg852=) c.2530C= (p.Arg844=) c.2497C= (p.Arg833=) c.2440C= (p.Arg814=) c.2539C= (p.Arg847=) c.2515C= (p.Arg839=) c.2350C= (p.Arg784=) c.2512C= (p.Arg838=) | |
1 | g.16989743G>T | CA338239661 | ATP13A2 | c.2557C>A (p.Arg853Ser) c.2425C>A (p.Arg809Ser) c.2542C>A (p.Arg848Ser) n.431C>A c.145C>A (p.Arg49Ser) c.2554C>A (p.Arg852Ser) c.2530C>A (p.Arg844Ser) c.2497C>A (p.Arg833Ser) c.2440C>A (p.Arg814Ser) c.2539C>A (p.Arg847Ser) c.2515C>A (p.Arg839Ser) c.2350C>A (p.Arg784Ser) c.2512C>A (p.Arg838Ser) | gnomAD v4 |
1 | g.16989744G>A | CA636786 | ATP13A2 | c.2556C>T (p.Ala852=) c.2424C>T (p.Ala808=) c.2541C>T (p.Ala847=) n.430C>T c.144C>T (p.Ala48=) c.2553C>T (p.Ala851=) c.2529C>T (p.Ala843=) c.2496C>T (p.Ala832=) c.2439C>T (p.Ala813=) c.2538C>T (p.Ala846=) c.2514C>T (p.Ala838=) c.2349C>T (p.Ala783=) c.2511C>T (p.Ala837=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16989744G>C | CA416094067 | ATP13A2 | c.2556C>G (p.Ala852=) c.2424C>G (p.Ala808=) c.2541C>G (p.Ala847=) n.430C>G c.144C>G (p.Ala48=) c.2553C>G (p.Ala851=) c.2529C>G (p.Ala843=) c.2496C>G (p.Ala832=) c.2439C>G (p.Ala813=) c.2538C>G (p.Ala846=) c.2514C>G (p.Ala838=) c.2349C>G (p.Ala783=) c.2511C>G (p.Ala837=) | dbSNP gnomAD v4 |
1 | g.16989744G= | CA1140624952 | ATP13A2 | c.2556C= (p.Ala852=) c.2424C= (p.Ala808=) c.2541C= (p.Ala847=) n.430C= c.144C= (p.Ala48=) c.2553C= (p.Ala851=) c.2529C= (p.Ala843=) c.2496C= (p.Ala832=) c.2439C= (p.Ala813=) c.2538C= (p.Ala846=) c.2514C= (p.Ala838=) c.2349C= (p.Ala783=) c.2511C= (p.Ala837=) | |
1 | g.16989744G>T | CA416094069 | ATP13A2 | c.2556C>A (p.Ala852=) c.2424C>A (p.Ala808=) c.2541C>A (p.Ala847=) n.430C>A c.144C>A (p.Ala48=) c.2553C>A (p.Ala851=) c.2529C>A (p.Ala843=) c.2496C>A (p.Ala832=) c.2439C>A (p.Ala813=) c.2538C>A (p.Ala846=) c.2514C>A (p.Ala838=) c.2349C>A (p.Ala783=) c.2511C>A (p.Ala837=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16989745G>A | CA338239670 | ATP13A2 | c.2555C>T (p.Ala852Val) c.2423C>T (p.Ala808Val) c.2540C>T (p.Ala847Val) n.429C>T c.143C>T (p.Ala48Val) c.2552C>T (p.Ala851Val) c.2528C>T (p.Ala843Val) c.2495C>T (p.Ala832Val) c.2438C>T (p.Ala813Val) c.2537C>T (p.Ala846Val) c.2513C>T (p.Ala838Val) c.2348C>T (p.Ala783Val) c.2510C>T (p.Ala837Val) | gnomAD v4 |
1 | g.16989745G>C | CA338239674 | ATP13A2 | c.2555C>G (p.Ala852Gly) c.2423C>G (p.Ala808Gly) c.2540C>G (p.Ala847Gly) n.429C>G c.143C>G (p.Ala48Gly) c.2552C>G (p.Ala851Gly) c.2528C>G (p.Ala843Gly) c.2495C>G (p.Ala832Gly) c.2438C>G (p.Ala813Gly) c.2537C>G (p.Ala846Gly) c.2513C>G (p.Ala838Gly) c.2348C>G (p.Ala783Gly) c.2510C>G (p.Ala837Gly) | |
1 | g.16989745G>T | CA338239666 | ATP13A2 | c.2555C>A (p.Ala852Asp) c.2423C>A (p.Ala808Asp) c.2540C>A (p.Ala847Asp) n.429C>A c.143C>A (p.Ala48Asp) c.2552C>A (p.Ala851Asp) c.2528C>A (p.Ala843Asp) c.2495C>A (p.Ala832Asp) c.2438C>A (p.Ala813Asp) c.2537C>A (p.Ala846Asp) c.2513C>A (p.Ala838Asp) c.2348C>A (p.Ala783Asp) c.2510C>A (p.Ala837Asp) | |
1 | g.16989746C>A | CA636787 | ATP13A2 | c.2554G>T (p.Ala852Ser) c.2422G>T (p.Ala808Ser) c.2539G>T (p.Ala847Ser) n.428G>T c.142G>T (p.Ala48Ser) c.2551G>T (p.Ala851Ser) c.2527G>T (p.Ala843Ser) c.2494G>T (p.Ala832Ser) c.2437G>T (p.Ala813Ser) c.2536G>T (p.Ala846Ser) c.2512G>T (p.Ala838Ser) c.2347G>T (p.Ala783Ser) c.2509G>T (p.Ala837Ser) | dbSNP ExAC gnomAD v2 |
1 | g.16989746C= | CA1148446632 | ATP13A2 | c.2554G= (p.Ala852=) c.2422G= (p.Ala808=) c.2539G= (p.Ala847=) n.428G= c.142G= (p.Ala48=) c.2551G= (p.Ala851=) c.2527G= (p.Ala843=) c.2494G= (p.Ala832=) c.2437G= (p.Ala813=) c.2536G= (p.Ala846=) c.2512G= (p.Ala838=) c.2347G= (p.Ala783=) c.2509G= (p.Ala837=) | |
1 | g.16989746C>G | CA338239676 | ATP13A2 | c.2554G>C (p.Ala852Pro) c.2422G>C (p.Ala808Pro) c.2539G>C (p.Ala847Pro) n.428G>C c.142G>C (p.Ala48Pro) c.2551G>C (p.Ala851Pro) c.2527G>C (p.Ala843Pro) c.2494G>C (p.Ala832Pro) c.2437G>C (p.Ala813Pro) c.2536G>C (p.Ala846Pro) c.2512G>C (p.Ala838Pro) c.2347G>C (p.Ala783Pro) c.2509G>C (p.Ala837Pro) | |
1 | g.16989746C>T | CA338239686 | ATP13A2 | c.2554G>A (p.Ala852Thr) c.2422G>A (p.Ala808Thr) c.2539G>A (p.Ala847Thr) n.428G>A c.142G>A (p.Ala48Thr) c.2551G>A (p.Ala851Thr) c.2527G>A (p.Ala843Thr) c.2494G>A (p.Ala832Thr) c.2437G>A (p.Ala813Thr) c.2536G>A (p.Ala846Thr) c.2512G>A (p.Ala838Thr) c.2347G>A (p.Ala783Thr) c.2509G>A (p.Ala837Thr) | |
1 | g.16989746_16989748delinsCAA | CA1156021092 | ATP13A2 | c.2552_2554delinsTTG (p.Phe851=) c.2420_2422delinsTTG (p.Phe807=) c.2537_2539delinsTTG (p.Phe846=) n.426_428delinsTTG c.140_142delinsTTG (p.Phe47=) c.2549_2551delinsTTG (p.Phe850=) c.2525_2527delinsTTG (p.Phe842=) c.2492_2494delinsTTG (p.Phe831=) c.2435_2437delinsTTG (p.Phe812=) c.2534_2536delinsTTG (p.Phe845=) c.2510_2512delinsTTG (p.Phe837=) c.2345_2347delinsTTG (p.Phe782=) c.2507_2509delinsTTG (p.Phe836=) | |
1 | g.16989747A>C | CA338239695 | ATP13A2 | c.2553T>G (p.Phe851Leu) c.2421T>G (p.Phe807Leu) c.2538T>G (p.Phe846Leu) n.427T>G c.141T>G (p.Phe47Leu) c.2550T>G (p.Phe850Leu) c.2526T>G (p.Phe842Leu) c.2493T>G (p.Phe831Leu) c.2436T>G (p.Phe812Leu) c.2535T>G (p.Phe845Leu) c.2511T>G (p.Phe837Leu) c.2346T>G (p.Phe782Leu) c.2508T>G (p.Phe836Leu) | |
1 | g.16989747A>G | CA416094074 | ATP13A2 | c.2553T>C (p.Phe851=) c.2421T>C (p.Phe807=) c.2538T>C (p.Phe846=) n.427T>C c.141T>C (p.Phe47=) c.2550T>C (p.Phe850=) c.2526T>C (p.Phe842=) c.2493T>C (p.Phe831=) c.2436T>C (p.Phe812=) c.2535T>C (p.Phe845=) c.2511T>C (p.Phe837=) c.2346T>C (p.Phe782=) c.2508T>C (p.Phe836=) | |
1 | g.16989747A>T | CA338239707 | ATP13A2 | c.2553T>A (p.Phe851Leu) c.2421T>A (p.Phe807Leu) c.2538T>A (p.Phe846Leu) n.427T>A c.141T>A (p.Phe47Leu) c.2550T>A (p.Phe850Leu) c.2526T>A (p.Phe842Leu) c.2493T>A (p.Phe831Leu) c.2436T>A (p.Phe812Leu) c.2535T>A (p.Phe845Leu) c.2511T>A (p.Phe837Leu) c.2346T>A (p.Phe782Leu) c.2508T>A (p.Phe836Leu) | |
1 | g.16989747_16989749delinsAAA | CA1148224178 | ATP13A2 | c.2551_2553delinsTTT (p.Phe851=) c.2419_2421delinsTTT (p.Phe807=) c.2536_2538delinsTTT (p.Phe846=) n.425_427delinsTTT c.139_141delinsTTT (p.Phe47=) c.2548_2550delinsTTT (p.Phe850=) c.2524_2526delinsTTT (p.Phe842=) c.2491_2493delinsTTT (p.Phe831=) c.2434_2436delinsTTT (p.Phe812=) c.2533_2535delinsTTT (p.Phe845=) c.2509_2511delinsTTT (p.Phe837=) c.2344_2346delinsTTT (p.Phe782=) c.2506_2508delinsTTT (p.Phe836=) | |
1 | g.16989748_16989749del | CA259916 | ATP13A2 | c.2552_2553del (p.Phe851CysfsTer6) c.2420_2421del (p.Phe807CysfsTer6) c.2537_2538del (p.Phe846CysfsTer6) n.426_427del c.140_141del (p.Phe47CysfsTer6) c.2549_2550del (p.Phe850CysfsTer6) c.2525_2526del (p.Phe842CysfsTer6) c.2492_2493del (p.Phe831CysfsTer6) c.2435_2436del (p.Phe812CysfsTer6) c.2534_2535del (p.Phe845CysfsTer6) c.2510_2511del (p.Phe837CysfsTer6) c.2345_2346del (p.Phe782CysfsTer6) c.2507_2508del (p.Phe836CysfsTer6) | ClinVar dbSNP |
1 | g.16989748A>C | CA338239714 | ATP13A2 | c.2552T>G (p.Phe851Cys) c.2420T>G (p.Phe807Cys) c.2537T>G (p.Phe846Cys) n.426T>G c.140T>G (p.Phe47Cys) c.2549T>G (p.Phe850Cys) c.2525T>G (p.Phe842Cys) c.2492T>G (p.Phe831Cys) c.2435T>G (p.Phe812Cys) c.2534T>G (p.Phe845Cys) c.2510T>G (p.Phe837Cys) c.2345T>G (p.Phe782Cys) c.2507T>G (p.Phe836Cys) | |
1 | g.16989748A>G | CA338239718 | ATP13A2 | c.2552T>C (p.Phe851Ser) c.2420T>C (p.Phe807Ser) c.2537T>C (p.Phe846Ser) n.426T>C c.140T>C (p.Phe47Ser) c.2549T>C (p.Phe850Ser) c.2525T>C (p.Phe842Ser) c.2492T>C (p.Phe831Ser) c.2435T>C (p.Phe812Ser) c.2534T>C (p.Phe845Ser) c.2510T>C (p.Phe837Ser) c.2345T>C (p.Phe782Ser) c.2507T>C (p.Phe836Ser) | |
1 | g.16989748A>T | CA338239721 | ATP13A2 | c.2552T>A (p.Phe851Tyr) c.2420T>A (p.Phe807Tyr) c.2537T>A (p.Phe846Tyr) n.426T>A c.140T>A (p.Phe47Tyr) c.2549T>A (p.Phe850Tyr) c.2525T>A (p.Phe842Tyr) c.2492T>A (p.Phe831Tyr) c.2435T>A (p.Phe812Tyr) c.2534T>A (p.Phe845Tyr) c.2510T>A (p.Phe837Tyr) c.2345T>A (p.Phe782Tyr) c.2507T>A (p.Phe836Tyr) | |
1 | g.16989749A>C | CA338239723 | ATP13A2 | c.2551T>G (p.Phe851Val) c.2419T>G (p.Phe807Val) c.2536T>G (p.Phe846Val) n.425T>G c.139T>G (p.Phe47Val) c.2548T>G (p.Phe850Val) c.2524T>G (p.Phe842Val) c.2491T>G (p.Phe831Val) c.2434T>G (p.Phe812Val) c.2533T>G (p.Phe845Val) c.2509T>G (p.Phe837Val) c.2344T>G (p.Phe782Val) c.2506T>G (p.Phe836Val) | |
1 | g.16989749A>G | CA338239725 | ATP13A2 | c.2551T>C (p.Phe851Leu) c.2419T>C (p.Phe807Leu) c.2536T>C (p.Phe846Leu) n.425T>C c.139T>C (p.Phe47Leu) c.2548T>C (p.Phe850Leu) c.2524T>C (p.Phe842Leu) c.2491T>C (p.Phe831Leu) c.2434T>C (p.Phe812Leu) c.2533T>C (p.Phe845Leu) c.2509T>C (p.Phe837Leu) c.2344T>C (p.Phe782Leu) c.2506T>C (p.Phe836Leu) | |
1 | g.16989749A>T | CA338239726 | ATP13A2 | c.2551T>A (p.Phe851Ile) c.2419T>A (p.Phe807Ile) c.2536T>A (p.Phe846Ile) n.425T>A c.139T>A (p.Phe47Ile) c.2548T>A (p.Phe850Ile) c.2524T>A (p.Phe842Ile) c.2491T>A (p.Phe831Ile) c.2434T>A (p.Phe812Ile) c.2533T>A (p.Phe845Ile) c.2509T>A (p.Phe837Ile) c.2344T>A (p.Phe782Ile) c.2506T>A (p.Phe836Ile) | |
1 | g.16989750G>A | CA416094079 | ATP13A2 | c.2550C>T (p.Val850=) c.2418C>T (p.Val806=) c.2535C>T (p.Val845=) n.424C>T c.138C>T (p.Val46=) c.2547C>T (p.Val849=) c.2523C>T (p.Val841=) c.2490C>T (p.Val830=) c.2433C>T (p.Val811=) c.2532C>T (p.Val844=) c.2508C>T (p.Val836=) c.2343C>T (p.Val781=) c.2505C>T (p.Val835=) | gnomAD v4 |
1 | g.16989750G>C | CA416094081 | ATP13A2 | c.2550C>G (p.Val850=) c.2418C>G (p.Val806=) c.2535C>G (p.Val845=) n.424C>G c.138C>G (p.Val46=) c.2547C>G (p.Val849=) c.2523C>G (p.Val841=) c.2490C>G (p.Val830=) c.2433C>G (p.Val811=) c.2532C>G (p.Val844=) c.2508C>G (p.Val836=) c.2343C>G (p.Val781=) c.2505C>G (p.Val835=) | gnomAD v4 |
1 | g.16989750G>T | CA416094080 | ATP13A2 | c.2550C>A (p.Val850=) c.2418C>A (p.Val806=) c.2535C>A (p.Val845=) n.424C>A c.138C>A (p.Val46=) c.2547C>A (p.Val849=) c.2523C>A (p.Val841=) c.2490C>A (p.Val830=) c.2433C>A (p.Val811=) c.2532C>A (p.Val844=) c.2508C>A (p.Val836=) c.2343C>A (p.Val781=) c.2505C>A (p.Val835=) | |
1 | g.16989751_16989761del | CA2580612552 | ATP13A2 | c.2540_2550del (p.Gln847LeufsTer7) c.2408_2418del (p.Gln803LeufsTer7) c.2525_2535del (p.Gln842LeufsTer7) n.414_424del c.128_138del (p.Gln43LeufsTer7) c.2537_2547del (p.Gln846LeufsTer7) c.2513_2523del (p.Gln838LeufsTer7) c.2480_2490del (p.Gln827LeufsTer7) c.2423_2433del (p.Gln808LeufsTer7) c.2522_2532del (p.Gln841LeufsTer7) c.2498_2508del (p.Gln833LeufsTer7) c.2333_2343del (p.Gln778LeufsTer7) c.2495_2505del (p.Gln832LeufsTer7) | ClinVar |
1 | g.16989751A>C | CA338239732 | ATP13A2 | c.2549T>G (p.Val850Gly) c.2417T>G (p.Val806Gly) c.2534T>G (p.Val845Gly) n.423T>G c.137T>G (p.Val46Gly) c.2546T>G (p.Val849Gly) c.2522T>G (p.Val841Gly) c.2489T>G (p.Val830Gly) c.2432T>G (p.Val811Gly) c.2531T>G (p.Val844Gly) c.2507T>G (p.Val836Gly) c.2342T>G (p.Val781Gly) c.2504T>G (p.Val835Gly) | |
1 | g.16989751A>G | CA338239751 | ATP13A2 | c.2549T>C (p.Val850Ala) c.2417T>C (p.Val806Ala) c.2534T>C (p.Val845Ala) n.423T>C c.137T>C (p.Val46Ala) c.2546T>C (p.Val849Ala) c.2522T>C (p.Val841Ala) c.2489T>C (p.Val830Ala) c.2432T>C (p.Val811Ala) c.2531T>C (p.Val844Ala) c.2507T>C (p.Val836Ala) c.2342T>C (p.Val781Ala) c.2504T>C (p.Val835Ala) | |
1 | g.16989751A>T | CA338239729 | ATP13A2 | c.2549T>A (p.Val850Asp) c.2417T>A (p.Val806Asp) c.2534T>A (p.Val845Asp) n.423T>A c.137T>A (p.Val46Asp) c.2546T>A (p.Val849Asp) c.2522T>A (p.Val841Asp) c.2489T>A (p.Val830Asp) c.2432T>A (p.Val811Asp) c.2531T>A (p.Val844Asp) c.2507T>A (p.Val836Asp) c.2342T>A (p.Val781Asp) c.2504T>A (p.Val835Asp) | |
1 | g.16989752C>A | CA338239758 | ATP13A2 | c.2548G>T (p.Val850Phe) c.2416G>T (p.Val806Phe) c.2533G>T (p.Val845Phe) n.422G>T c.136G>T (p.Val46Phe) c.2545G>T (p.Val849Phe) c.2521G>T (p.Val841Phe) c.2488G>T (p.Val830Phe) c.2431G>T (p.Val811Phe) c.2530G>T (p.Val844Phe) c.2506G>T (p.Val836Phe) c.2341G>T (p.Val781Phe) c.2503G>T (p.Val835Phe) | |
1 | g.16989752C= | CA1147199638 | ATP13A2 | c.2548G= (p.Val850=) c.2416G= (p.Val806=) c.2533G= (p.Val845=) n.422G= c.136G= (p.Val46=) c.2545G= (p.Val849=) c.2521G= (p.Val841=) c.2488G= (p.Val830=) c.2431G= (p.Val811=) c.2530G= (p.Val844=) c.2506G= (p.Val836=) c.2341G= (p.Val781=) c.2503G= (p.Val835=) | |
1 | g.16989752C>G | CA18628836 | ATP13A2 | c.2548G>C (p.Val850Leu) c.2416G>C (p.Val806Leu) c.2533G>C (p.Val845Leu) n.422G>C c.136G>C (p.Val46Leu) c.2545G>C (p.Val849Leu) c.2521G>C (p.Val841Leu) c.2488G>C (p.Val830Leu) c.2431G>C (p.Val811Leu) c.2530G>C (p.Val844Leu) c.2506G>C (p.Val836Leu) c.2341G>C (p.Val781Leu) c.2503G>C (p.Val835Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.16989752C>T | CA338239759 | ATP13A2 | c.2548G>A (p.Val850Ile) c.2416G>A (p.Val806Ile) c.2533G>A (p.Val845Ile) n.422G>A c.136G>A (p.Val46Ile) c.2545G>A (p.Val849Ile) c.2521G>A (p.Val841Ile) c.2488G>A (p.Val830Ile) c.2431G>A (p.Val811Ile) c.2530G>A (p.Val844Ile) c.2506G>A (p.Val836Ile) c.2341G>A (p.Val781Ile) c.2503G>A (p.Val835Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16989752_16989753insGGGGCCATGCGGGCAAAGGC | CA2643673199 | ATP13A2 | c.2548_2549insCCTTTGCCCGCATGGCCCCG (p.Val850AlafsTer?) c.2416_2417insCCTTTGCCCGCATGGCCCCG (p.Val806AlafsTer?) c.2533_2534insCCTTTGCCCGCATGGCCCCG (p.Val845AlafsTer?) n.422_423insCCTTTGCCCGCATGGCCCCG c.136_137insCCTTTGCCCGCATGGCCCCG (p.Val46AlafsTer?) c.2545_2546insCCTTTGCCCGCATGGCCCCG (p.Val849AlafsTer?) c.2521_2522insCCTTTGCCCGCATGGCCCCG (p.Val841AlafsTer?) c.2488_2489insCCTTTGCCCGCATGGCCCCG (p.Val830AlafsTer?) c.2431_2432insCCTTTGCCCGCATGGCCCCG (p.Val811AlafsTer?) c.2530_2531insCCTTTGCCCGCATGGCCCCG (p.Val844AlafsTer?) c.2506_2507insCCTTTGCCCGCATGGCCCCG (p.Val836AlafsTer?) c.2341_2342insCCTTTGCCCGCATGGCCCCG (p.Val781AlafsTer?) c.2503_2504insCCTTTGCCCGCATGGCCCCG (p.Val835AlafsTer?) | gnomAD v4 |
1 | g.16989753A>C | CA416094085 | ATP13A2 | c.2547T>G (p.Thr849=) c.2415T>G (p.Thr805=) c.2532T>G (p.Thr844=) n.421T>G c.135T>G (p.Thr45=) c.2544T>G (p.Thr848=) c.2520T>G (p.Thr840=) c.2487T>G (p.Thr829=) c.2430T>G (p.Thr810=) c.2529T>G (p.Thr843=) c.2505T>G (p.Thr835=) c.2340T>G (p.Thr780=) c.2502T>G (p.Thr834=) | |
1 | g.16989753A>G | CA416094086 | ATP13A2 | c.2547T>C (p.Thr849=) c.2415T>C (p.Thr805=) c.2532T>C (p.Thr844=) n.421T>C c.135T>C (p.Thr45=) c.2544T>C (p.Thr848=) c.2520T>C (p.Thr840=) c.2487T>C (p.Thr829=) c.2430T>C (p.Thr810=) c.2529T>C (p.Thr843=) c.2505T>C (p.Thr835=) c.2340T>C (p.Thr780=) c.2502T>C (p.Thr834=) | |
1 | g.16989753A>T | CA416094087 | ATP13A2 | c.2547T>A (p.Thr849=) c.2415T>A (p.Thr805=) c.2532T>A (p.Thr844=) n.421T>A c.135T>A (p.Thr45=) c.2544T>A (p.Thr848=) c.2520T>A (p.Thr840=) c.2487T>A (p.Thr829=) c.2430T>A (p.Thr810=) c.2529T>A (p.Thr843=) c.2505T>A (p.Thr835=) c.2340T>A (p.Thr780=) c.2502T>A (p.Thr834=) | |
1 | g.16989754G>A | CA338239760 | ATP13A2 | c.2546C>T (p.Thr849Ile) c.2414C>T (p.Thr805Ile) c.2531C>T (p.Thr844Ile) n.420C>T c.134C>T (p.Thr45Ile) c.2543C>T (p.Thr848Ile) c.2519C>T (p.Thr840Ile) c.2486C>T (p.Thr829Ile) c.2429C>T (p.Thr810Ile) c.2528C>T (p.Thr843Ile) c.2504C>T (p.Thr835Ile) c.2339C>T (p.Thr780Ile) c.2501C>T (p.Thr834Ile) | |
1 | g.16989754G>C | CA338239762 | ATP13A2 | c.2546C>G (p.Thr849Ser) c.2414C>G (p.Thr805Ser) c.2531C>G (p.Thr844Ser) n.420C>G c.134C>G (p.Thr45Ser) c.2543C>G (p.Thr848Ser) c.2519C>G (p.Thr840Ser) c.2486C>G (p.Thr829Ser) c.2429C>G (p.Thr810Ser) c.2528C>G (p.Thr843Ser) c.2504C>G (p.Thr835Ser) c.2339C>G (p.Thr780Ser) c.2501C>G (p.Thr834Ser) | |
1 | g.16989754G>T | CA338239765 | ATP13A2 | c.2546C>A (p.Thr849Asn) c.2414C>A (p.Thr805Asn) c.2531C>A (p.Thr844Asn) n.420C>A c.134C>A (p.Thr45Asn) c.2543C>A (p.Thr848Asn) c.2519C>A (p.Thr840Asn) c.2486C>A (p.Thr829Asn) c.2429C>A (p.Thr810Asn) c.2528C>A (p.Thr843Asn) c.2504C>A (p.Thr835Asn) c.2339C>A (p.Thr780Asn) c.2501C>A (p.Thr834Asn) |