Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.16989672C>ACA521028482ATP13A2c.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
1g.16989672C=CA1156020969ATP13A2c.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=)
1g.16989672C>TCA1156020970ATP13A2c.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
1g.16989675T>ACA636774ATP13A2c.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
1g.16989675T=CA1156020973ATP13A2c.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=)
1g.16989676C>TCA2742637061ATP13A2c.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)
1g.16989677T>ACA2643673087ATP13A2c.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
1g.16989677T>GCA2643673088ATP13A2c.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
1g.16989677T=CA1156020976ATP13A2c.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=)
1g.16989678_16989679insAAGCA1156020978ATP13A2c.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
1g.16989679C=CA1156020980ATP13A2c.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=)
1g.16989679C>GCA521028483ATP13A2c.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
1g.16989680C>ACA1156020982ATP13A2c.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
1g.16989680C=CA1156020981ATP13A2c.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=)
1g.16989680C>TCA636775ATP13A2c.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
1g.16989681G>ACA636776ATP13A2c.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
1g.16989681G>CCA2742637062ATP13A2c.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)
1g.16989681G=CA1156020985ATP13A2c.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=)
1g.16989681G>TCA2563243031ATP13A2c.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)
1g.16989683G>ACA521028486ATP13A2c.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
1g.16989683G=CA1156020988ATP13A2c.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=)
1g.16989684C>ACA2643673092ATP13A2c.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
1g.16989685A>TCA2643673093ATP13A2c.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
1g.16989686C>TCA2643673094ATP13A2c.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
1g.16989688C>GCA2643673097ATP13A2c.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
1g.16989688C>TCA2643673099ATP13A2c.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
1g.16989689A>CCA338239111ATP13A2c.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)
1g.16989689A>GCA338239113ATP13A2c.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
1g.16989689A>TCA338239114ATP13A2c.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)
1g.16989690C>ACA338239118ATP13A2c.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)
1g.16989690C>GCA338239120ATP13A2c.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
1g.16989690C>TCA338239127ATP13A2c.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
1g.16989691T>ACA338239134ATP13A2c.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)
1g.16989691T>CCA338239133ATP13A2c.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)
1g.16989691T>GCA338239131ATP13A2c.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)
1g.16989692G>ACA338239135ATP13A2c.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)
1g.16989692G>CCA338239136ATP13A2c.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)
1g.16989692G>TCA338239139ATP13A2c.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
1g.16989693A>CCA416056445ATP13A2c.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=)
1g.16989693A>GCA416056448ATP13A2c.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=)
1g.16989693A>TCA416056449ATP13A2c.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=)
1g.16989694A>CCA338239145ATP13A2c.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)
1g.16989694A>GCA338239148ATP13A2c.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)
1g.16989694A>TCA338239149ATP13A2c.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)
1g.16989695G>ACA338239158ATP13A2c.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)
1g.16989695G>CCA338239153ATP13A2c.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)
1g.16989695G>TCA338239155ATP13A2c.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)
1g.16989696C>ACA338239160ATP13A2c.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)
1g.16989696C=CA1156020991ATP13A2c.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=)
1g.16989696C>GCA338239164ATP13A2c.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)
1g.16989696C>TCA416056467ATP13A2c.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
1g.16989697T>ACA338239167ATP13A2c.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)
1g.16989697T>CCA338239169ATP13A2c.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)
1g.16989697T>GCA338239173ATP13A2c.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)
1g.16989698T>ACA338239177ATP13A2c.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)
1g.16989698T>CCA338239184ATP13A2c.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)
1g.16989698T>GCA338239181ATP13A2c.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)
1g.16989699C>ACA338239187ATP13A2c.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)
1g.16989699C>GCA338239191ATP13A2c.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)
1g.16989699C>TCA416094005ATP13A2c.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=)
1g.16989700T>ACA338239197ATP13A2c.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)
1g.16989700T>CCA338239202ATP13A2c.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
1g.16989700T>GCA636777ATP13A2c.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
1g.16989700T=CA1156020993ATP13A2c.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=)
1g.16989701G>ACA636778ATP13A2c.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
1g.16989701G>CCA338239205ATP13A2c.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
1g.16989701G=CA1156020998ATP13A2c.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=)
1g.16989701G>TCA338239208ATP13A2c.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)
1g.16989702T>ACA416094007ATP13A2c.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=)
1g.16989702T>CCA416094008ATP13A2c.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=)
1g.16989702T>GCA416094009ATP13A2c.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=)
1g.16989703A>CCA338239211ATP13A2c.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)
1g.16989703A>GCA338239215ATP13A2c.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
1g.16989703A>TCA338239219ATP13A2c.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)
1g.16989704G>ACA416094010ATP13A2c.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=)
1g.16989704G>CCA338239222ATP13A2c.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)
1g.16989704G>TCA338239223ATP13A2c.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
1g.16989705C>ACA338239227ATP13A2c.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)
1g.16989705C>GCA338239228ATP13A2c.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)
1g.16989705C>TCA416094011ATP13A2c.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=)
1g.16989706T>ACA338239231ATP13A2c.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
1g.16989706T>CCA338239233ATP13A2c.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
1g.16989706T>GCA338239236ATP13A2c.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)
1g.16989706T=CA1156021001ATP13A2c.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=)
1g.16989707C>ACA338239249ATP13A2c.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)
1g.16989707C=CA1142245732ATP13A2c.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=)
1g.16989707C>GCA338239242ATP13A2c.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
1g.16989707C>TCA636779ATP13A2c.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
1g.16989708G>ACA636780ATP13A2c.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
1g.16989708G>CCA338239258ATP13A2c.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)
1g.16989708G=CA1156021010ATP13A2c.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=)
1g.16989708G>TCA338239268ATP13A2c.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
1g.16989709C>ACA338239271ATP13A2c.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
1g.16989709C=CA1156021014ATP13A2c.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=)
1g.16989709C>GCA338239279ATP13A2c.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)
1g.16989709C>TCA338239283ATP13A2c.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)
1g.16989710A=CA1156021016ATP13A2c.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=)
1g.16989710A>CCA338239291ATP13A2c.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)
1g.16989710A>GCA338239287ATP13A2c.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
1g.16989710A>TCA338239288ATP13A2c.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)
1g.16989711C>ACA416094017ATP13A2c.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=)
1g.16989711C>GCA416094019ATP13A2c.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=)
1g.16989711C>TCA416094020ATP13A2c.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=)
1g.16989712A>CCA338239294ATP13A2c.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)
1g.16989712A>GCA338239295ATP13A2c.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)
1g.16989712A>TCA338239296ATP13A2c.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)
1g.16989713C>ACA338239297ATP13A2c.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)
1g.16989713C>GCA338239298ATP13A2c.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)
1g.16989713C>TCA338239299ATP13A2c.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
1g.16989714delCA2580060657ATP13A2c.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
1g.16989714C>ACA416094024ATP13A2c.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=)
1g.16989714C>GCA416094025ATP13A2c.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=)
1g.16989714C>TCA416094026ATP13A2c.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=)
1g.16989715A>CCA338239302ATP13A2c.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)
1g.16989715A>GCA338239304ATP13A2c.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)
1g.16989715A>TCA338239305ATP13A2c.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)
1g.16989716G>ACA416094029ATP13A2c.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=)
1g.16989716G>CCA338239307ATP13A2c.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)
1g.16989716G>TCA338239308ATP13A2c.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)
1g.16989717C>ACA338239312ATP13A2c.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)
1g.16989717C>GCA338239314ATP13A2c.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)
1g.16989717C>TCA416094030ATP13A2c.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
1g.16989719_16989720delCA2643673122ATP13A2c.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
1g.16989718T>ACA338239316ATP13A2c.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
1g.16989718T>CCA338239322ATP13A2c.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)
1g.16989718T>GCA338239318ATP13A2c.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)
1g.16989719C>ACA338239330ATP13A2c.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)
1g.16989719C=CA1156021020ATP13A2c.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=)
1g.16989719C>GCA636781ATP13A2c.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
1g.16989719C>TCA338239341ATP13A2c.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
1g.16989720T>ACA416094034ATP13A2c.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=)
1g.16989720T>CCA416094035ATP13A2c.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
1g.16989720T>GCA416094036ATP13A2c.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=)
1g.16989720T=CA1156021026ATP13A2c.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=)
1g.16989721G>ACA338239352ATP13A2c.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)
1g.16989721G>CCA338239367ATP13A2c.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)
1g.16989721G>TCA338239369ATP13A2c.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)
1g.16989722T>ACA338239372ATP13A2c.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)
1g.16989722T>CCA338239384ATP13A2c.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
1g.16989722T>GCA338239386ATP13A2c.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)
1g.16989722T=CA1156021032ATP13A2c.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=)
1g.16989723C>ACA338239391ATP13A2c.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)
1g.16989723C>GCA338239400ATP13A2c.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)
1g.16989723C>TCA416094039ATP13A2c.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
1g.16989724T>ACA338239426ATP13A2c.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)
1g.16989724T>CCA338239409ATP13A2c.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)
1g.16989724T>GCA338239407ATP13A2c.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)
1g.16989725T>ACA338239430ATP13A2c.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)
1g.16989725T>CCA338239440ATP13A2c.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)
1g.16989725T>GCA338239443ATP13A2c.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)
1g.16989726C>ACA338239452ATP13A2c.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)
1g.16989726C=CA1156021035ATP13A2c.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=)
1g.16989726C>GCA338239466ATP13A2c.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)
1g.16989726C>TCA416094043ATP13A2c.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
1g.16989727T>ACA338239470ATP13A2c.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)
1g.16989727T>CCA338239474ATP13A2c.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)
1g.16989727T>GCA338239485ATP13A2c.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)
1g.16989728G>ACA338239486ATP13A2c.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
1g.16989728G>CCA338239503ATP13A2c.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)
1g.16989728G=CA1156021039ATP13A2c.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=)
1g.16989728G>TCA338239510ATP13A2c.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)
1g.16989729C>ACA338239513ATP13A2c.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)
1g.16989729C>GCA338239530ATP13A2c.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)
1g.16989729C>TCA416094044ATP13A2c.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
1g.16989730T>ACA338239548ATP13A2c.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)
1g.16989730T>CCA338239542ATP13A2c.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)
1g.16989730T>GCA338239535ATP13A2c.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)
1g.16989731C>ACA338239573ATP13A2c.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)
1g.16989731C=CA1156021042ATP13A2c.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=)
1g.16989731C>GCA338239552ATP13A2c.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
1g.16989731C>TCA338239576ATP13A2c.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
1g.16989732A>CCA416094049ATP13A2c.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=)
1g.16989732A>GCA416094047ATP13A2c.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=)
1g.16989732A>TCA416094048ATP13A2c.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=)
1g.16989732_16989733delCA2573105839ATP13A2c.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)
1g.16989733G>ACA338239581ATP13A2c.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)
1g.16989733G>CCA338239587ATP13A2c.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)
1g.16989733G>TCA338239584ATP13A2c.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)
1g.16989734G>ACA338239591ATP13A2c.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)
1g.16989734G>CCA338239601ATP13A2c.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)
1g.16989734G>TCA338239604ATP13A2c.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)
1g.16989735G>ACA416094055ATP13A2c.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
1g.16989735G>CCA416094056ATP13A2c.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=)
1g.16989735G>TCA416094053ATP13A2c.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=)
1g.16989736G>ACA338239609ATP13A2c.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
1g.16989736G>CCA18628799ATP13A2c.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
1g.16989736G=CA1156021047ATP13A2c.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=)
1g.16989736G>TCA636782ATP13A2c.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
1g.16989737C>ACA338239614ATP13A2c.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
1g.16989737C=CA1156021053ATP13A2c.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=)
1g.16989737C>GCA338239615ATP13A2c.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)
1g.16989737C>TCA10608214ATP13A2c.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
1g.16989738C>ACA338239619ATP13A2c.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)
1g.16989738C>GCA338239623ATP13A2c.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)
1g.16989738C>TCA338239626ATP13A2c.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)
1g.16989739A=CA1148224177ATP13A2c.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=)
1g.16989739A>CCA264798ATP13A2c.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
1g.16989739A>GCA338239631ATP13A2c.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)
1g.16989739A>TCA338239630ATP13A2c.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)
1g.16989740T>ACA338239632ATP13A2c.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)
1g.16989740T>CCA636783ATP13A2c.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
1g.16989740T>GCA338239636ATP13A2c.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)
1g.16989740T=CA1156021066ATP13A2c.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=)
1g.16989741G>ACA416094060ATP13A2c.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
1g.16989741G>CCA416094061ATP13A2c.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=)
1g.16989741G=CA1156021071ATP13A2c.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=)
1g.16989741G>TCA416094062ATP13A2c.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=)
1g.16989742C>ACA338239655ATP13A2c.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
1g.16989742C=CA1148273885ATP13A2c.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=)
1g.16989742C>GCA338239659ATP13A2c.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)
1g.16989742C>TCA636784ATP13A2c.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
1g.16989743G>ACA636785ATP13A2c.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
1g.16989743G>CCA338239660ATP13A2c.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
1g.16989743G=CA1156021084ATP13A2c.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=)
1g.16989743G>TCA338239661ATP13A2c.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
1g.16989744G>ACA636786ATP13A2c.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
1g.16989744G>CCA416094067ATP13A2c.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
1g.16989744G=CA1140624952ATP13A2c.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=)
1g.16989744G>TCA416094069ATP13A2c.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
1g.16989745G>ACA338239670ATP13A2c.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
1g.16989745G>CCA338239674ATP13A2c.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)
1g.16989745G>TCA338239666ATP13A2c.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)
1g.16989746C>ACA636787ATP13A2c.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
1g.16989746C=CA1148446632ATP13A2c.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=)
1g.16989746C>GCA338239676ATP13A2c.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)
1g.16989746C>TCA338239686ATP13A2c.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)
1g.16989746_16989748delinsCAACA1156021092ATP13A2c.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=)
1g.16989747A>CCA338239695ATP13A2c.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)
1g.16989747A>GCA416094074ATP13A2c.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=)
1g.16989747A>TCA338239707ATP13A2c.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)
1g.16989747_16989749delinsAAACA1148224178ATP13A2c.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=)
1g.16989748_16989749delCA259916ATP13A2c.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
1g.16989748A>CCA338239714ATP13A2c.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)
1g.16989748A>GCA338239718ATP13A2c.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)
1g.16989748A>TCA338239721ATP13A2c.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)
1g.16989749A>CCA338239723ATP13A2c.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)
1g.16989749A>GCA338239725ATP13A2c.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)
1g.16989749A>TCA338239726ATP13A2c.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)
1g.16989750G>ACA416094079ATP13A2c.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
1g.16989750G>CCA416094081ATP13A2c.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
1g.16989750G>TCA416094080ATP13A2c.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=)
1g.16989751_16989761delCA2580612552ATP13A2c.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
1g.16989751A>CCA338239732ATP13A2c.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)
1g.16989751A>GCA338239751ATP13A2c.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)
1g.16989751A>TCA338239729ATP13A2c.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)
1g.16989752C>ACA338239758ATP13A2c.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)
1g.16989752C=CA1147199638ATP13A2c.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=)
1g.16989752C>GCA18628836ATP13A2c.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
1g.16989752C>TCA338239759ATP13A2c.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
1g.16989752_16989753insGGGGCCATGCGGGCAAAGGCCA2643673199ATP13A2c.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
1g.16989753A>CCA416094085ATP13A2c.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=)
1g.16989753A>GCA416094086ATP13A2c.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=)
1g.16989753A>TCA416094087ATP13A2c.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=)
1g.16989754G>ACA338239760ATP13A2c.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)
1g.16989754G>CCA338239762ATP13A2c.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)
1g.16989754G>TCA338239765ATP13A2c.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)
1g.16989755T>ACA338239777ATP13A2c.2545A>T (p.Thr849Ser)
c.2413A>T (p.Thr805Ser)
c.2530A>T (p.Thr844Ser)
n.419A>T
c.133A>T (p.Thr45Ser)
c.2542A>T (p.Thr848Ser)
c.2518A>T (p.Thr840Ser)
c.2485A>T (p.Thr829Ser)
c.2428A>T (p.Thr810Ser)
c.2527A>T (p.Thr843Ser)
c.2503A>T (p.Thr835Ser)
c.2338A>T (p.Thr780Ser)
c.2500A>T (p.Thr834Ser)
1g.16989755T>CCA338239785ATP13A2c.2545A>G (p.Thr849Ala)
c.2413A>G (p.Thr805Ala)
c.2530A>G (p.Thr844Ala)
n.419A>G
c.133A>G (p.Thr45Ala)
c.2542A>G (p.Thr848Ala)
c.2518A>G (p.Thr840Ala)
c.2485A>G (p.Thr829Ala)
c.2428A>G (p.Thr810Ala)
c.2527A>G (p.Thr843Ala)
c.2503A>G (p.Thr835Ala)
c.2338A>G (p.Thr780Ala)
c.2500A>G (p.Thr834Ala)
1g.16989755T>GCA338239778ATP13A2c.2545A>C (p.Thr849Pro)
c.2413A>C (p.Thr805Pro)
c.2530A>C (p.Thr844Pro)
n.419A>C
c.133A>C (p.Thr45Pro)
c.2542A>C (p.Thr848Pro)
c.2518A>C (p.Thr840Pro)
c.2485A>C (p.Thr829Pro)
c.2428A>C (p.Thr810Pro)
c.2527A>C (p.Thr843Pro)
c.2503A>C (p.Thr835Pro)
c.2338A>C (p.Thr780Pro)
c.2500A>C (p.Thr834Pro)
1g.16989756G>ACA636788ATP13A2c.2544C>T (p.Gly848=)
c.2412C>T (p.Gly804=)
c.2529C>T (p.Gly843=)
n.418C>T
c.132C>T (p.Gly44=)
c.2541C>T (p.Gly847=)
c.2517C>T (p.Gly839=)
c.2484C>T (p.Gly828=)
c.2427C>T (p.Gly809=)
c.2526C>T (p.Gly842=)
c.2502C>T (p.Gly834=)
c.2337C>T (p.Gly779=)
c.2499C>T (p.Gly833=)
 ClinVar dbSNP ExAC gnomAD v2
1g.16989756G>CCA416094090ATP13A2c.2544C>G (p.Gly848=)
c.2412C>G (p.Gly804=)
c.2529C>G (p.Gly843=)
n.418C>G
c.132C>G (p.Gly44=)
c.2541C>G (p.Gly847=)
c.2517C>G (p.Gly839=)
c.2484C>G (p.Gly828=)
c.2427C>G (p.Gly809=)
c.2526C>G (p.Gly842=)
c.2502C>G (p.Gly834=)
c.2337C>G (p.Gly779=)
c.2499C>G (p.Gly833=)
1g.16989756G=CA1156021102ATP13A2c.2544C= (p.Gly848=)
c.2412C= (p.Gly804=)
c.2529C= (p.Gly843=)
n.418C=
c.132C= (p.Gly44=)
c.2541C= (p.Gly847=)
c.2517C= (p.Gly839=)
c.2484C= (p.Gly828=)
c.2427C= (p.Gly809=)
c.2526C= (p.Gly842=)
c.2502C= (p.Gly834=)
c.2337C= (p.Gly779=)
c.2499C= (p.Gly833=)
1g.16989756G>TCA416094092ATP13A2c.2544C>A (p.Gly848=)
c.2412C>A (p.Gly804=)
c.2529C>A (p.Gly843=)
n.418C>A
c.132C>A (p.Gly44=)
c.2541C>A (p.Gly847=)
c.2517C>A (p.Gly839=)
c.2484C>A (p.Gly828=)
c.2427C>A (p.Gly809=)
c.2526C>A (p.Gly842=)
c.2502C>A (p.Gly834=)
c.2337C>A (p.Gly779=)
c.2499C>A (p.Gly833=)
1g.16989757C>ACA338239796ATP13A2c.2543G>T (p.Gly848Val)
c.2411G>T (p.Gly804Val)
c.2528G>T (p.Gly843Val)
n.417G>T
c.131G>T (p.Gly44Val)
c.2540G>T (p.Gly847Val)
c.2516G>T (p.Gly839Val)
c.2483G>T (p.Gly828Val)
c.2426G>T (p.Gly809Val)
c.2525G>T (p.Gly842Val)
c.2501G>T (p.Gly834Val)
c.2336G>T (p.Gly779Val)
c.2498G>T (p.Gly833Val)
1g.16989757C>GCA338239804ATP13A2c.2543G>C (p.Gly848Ala)
c.2411G>C (p.Gly804Ala)
c.2528G>C (p.Gly843Ala)
n.417G>C
c.131G>C (p.Gly44Ala)
c.2540G>C (p.Gly847Ala)
c.2516G>C (p.Gly839Ala)
c.2483G>C (p.Gly828Ala)
c.2426G>C (p.Gly809Ala)
c.2525G>C (p.Gly842Ala)
c.2501G>C (p.Gly834Ala)
c.2336G>C (p.Gly779Ala)
c.2498G>C (p.Gly833Ala)
1g.16989757C>TCA338239807ATP13A2c.2543G>A (p.Gly848Asp)
c.2411G>A (p.Gly804Asp)
c.2528G>A (p.Gly843Asp)
n.417G>A
c.131G>A (p.Gly44Asp)
c.2540G>A (p.Gly847Asp)
c.2516G>A (p.Gly839Asp)
c.2483G>A (p.Gly828Asp)
c.2426G>A (p.Gly809Asp)
c.2525G>A (p.Gly842Asp)
c.2501G>A (p.Gly834Asp)
c.2336G>A (p.Gly779Asp)
c.2498G>A (p.Gly833Asp)
1g.16989758C>ACA338239819ATP13A2c.2542G>T (p.Gly848Cys)
c.2410G>T (p.Gly804Cys)
c.2527G>T (p.Gly843Cys)
n.416G>T
c.130G>T (p.Gly44Cys)
c.2539G>T (p.Gly847Cys)
c.2515G>T (p.Gly839Cys)
c.2482G>T (p.Gly828Cys)
c.2425G>T (p.Gly809Cys)
c.2524G>T (p.Gly842Cys)
c.2500G>T (p.Gly834Cys)
c.2335G>T (p.Gly779Cys)
c.2497G>T (p.Gly833Cys)
1g.16989758C>GCA338239817ATP13A2c.2542G>C (p.Gly848Arg)
c.2410G>C (p.Gly804Arg)
c.2527G>C (p.Gly843Arg)
n.416G>C
c.130G>C (p.Gly44Arg)
c.2539G>C (p.Gly847Arg)
c.2515G>C (p.Gly839Arg)
c.2482G>C (p.Gly828Arg)
c.2425G>C (p.Gly809Arg)
c.2524G>C (p.Gly842Arg)
c.2500G>C (p.Gly834Arg)
c.2335G>C (p.Gly779Arg)
c.2497G>C (p.Gly833Arg)
1g.16989758C>TCA338239812ATP13A2c.2542G>A (p.Gly848Ser)
c.2410G>A (p.Gly804Ser)
c.2527G>A (p.Gly843Ser)
n.416G>A
c.130G>A (p.Gly44Ser)
c.2539G>A (p.Gly847Ser)
c.2515G>A (p.Gly839Ser)
c.2482G>A (p.Gly828Ser)
c.2425G>A (p.Gly809Ser)
c.2524G>A (p.Gly842Ser)
c.2500G>A (p.Gly834Ser)
c.2335G>A (p.Gly779Ser)
c.2497G>A (p.Gly833Ser)
 gnomAD v4
1g.16989759C>ACA338239822ATP13A2c.2541G>T (p.Gln847His)
c.2409G>T (p.Gln803His)
c.2526G>T (p.Gln842His)
n.415G>T
c.129G>T (p.Gln43His)
c.2538G>T (p.Gln846His)
c.2514G>T (p.Gln838His)
c.2481G>T (p.Gln827His)
c.2424G>T (p.Gln808His)
c.2523G>T (p.Gln841His)
c.2499G>T (p.Gln833His)
c.2334G>T (p.Gln778His)
c.2496G>T (p.Gln832His)
1g.16989759C>GCA338239824ATP13A2c.2541G>C (p.Gln847His)
c.2409G>C (p.Gln803His)
c.2526G>C (p.Gln842His)
n.415G>C
c.129G>C (p.Gln43His)
c.2538G>C (p.Gln846His)
c.2514G>C (p.Gln838His)
c.2481G>C (p.Gln827His)
c.2424G>C (p.Gln808His)
c.2523G>C (p.Gln841His)
c.2499G>C (p.Gln833His)
c.2334G>C (p.Gln778His)
c.2496G>C (p.Gln832His)
1g.16989759C>TCA416094094ATP13A2c.2541G>A (p.Gln847=)
c.2409G>A (p.Gln803=)
c.2526G>A (p.Gln842=)
n.415G>A
c.129G>A (p.Gln43=)
c.2538G>A (p.Gln846=)
c.2514G>A (p.Gln838=)
c.2481G>A (p.Gln827=)
c.2424G>A (p.Gln808=)
c.2523G>A (p.Gln841=)
c.2499G>A (p.Gln833=)
c.2334G>A (p.Gln778=)
c.2496G>A (p.Gln832=)
1g.16989760T>ACA338239826ATP13A2c.2540A>T (p.Gln847Leu)
c.2408A>T (p.Gln803Leu)
c.2525A>T (p.Gln842Leu)
n.414A>T
c.128A>T (p.Gln43Leu)
c.2537A>T (p.Gln846Leu)
c.2513A>T (p.Gln838Leu)
c.2480A>T (p.Gln827Leu)
c.2423A>T (p.Gln808Leu)
c.2522A>T (p.Gln841Leu)
c.2498A>T (p.Gln833Leu)
c.2333A>T (p.Gln778Leu)
c.2495A>T (p.Gln832Leu)
1g.16989760T>CCA338239827ATP13A2c.2540A>G (p.Gln847Arg)
c.2408A>G (p.Gln803Arg)
c.2525A>G (p.Gln842Arg)
n.414A>G
c.128A>G (p.Gln43Arg)
c.2537A>G (p.Gln846Arg)
c.2513A>G (p.Gln838Arg)
c.2480A>G (p.Gln827Arg)
c.2423A>G (p.Gln808Arg)
c.2522A>G (p.Gln841Arg)
c.2498A>G (p.Gln833Arg)
c.2333A>G (p.Gln778Arg)
c.2495A>G (p.Gln832Arg)
 dbSNP gnomAD v4
1g.16989760T>GCA338239828ATP13A2c.2540A>C (p.Gln847Pro)
c.2408A>C (p.Gln803Pro)
c.2525A>C (p.Gln842Pro)
n.414A>C
c.128A>C (p.Gln43Pro)
c.2537A>C (p.Gln846Pro)
c.2513A>C (p.Gln838Pro)
c.2480A>C (p.Gln827Pro)
c.2423A>C (p.Gln808Pro)
c.2522A>C (p.Gln841Pro)
c.2498A>C (p.Gln833Pro)
c.2333A>C (p.Gln778Pro)
c.2495A>C (p.Gln832Pro)
1g.16989760T=CA1156021108ATP13A2c.2540A= (p.Gln847=)
c.2408A= (p.Gln803=)
c.2525A= (p.Gln842=)
n.414A=
c.128A= (p.Gln43=)
c.2537A= (p.Gln846=)
c.2513A= (p.Gln838=)
c.2480A= (p.Gln827=)
c.2423A= (p.Gln808=)
c.2522A= (p.Gln841=)
c.2498A= (p.Gln833=)
c.2333A= (p.Gln778=)
c.2495A= (p.Gln832=)
1g.16989761G>ACA338239829ATP13A2c.2539C>T (p.Gln847Ter)
c.2407C>T (p.Gln803Ter)
c.2524C>T (p.Gln842Ter)
n.413C>T
c.127C>T (p.Gln43Ter)
c.2536C>T (p.Gln846Ter)
c.2512C>T (p.Gln838Ter)
c.2479C>T (p.Gln827Ter)
c.2422C>T (p.Gln808Ter)
c.2521C>T (p.Gln841Ter)
c.2497C>T (p.Gln833Ter)
c.2332C>T (p.Gln778Ter)
c.2494C>T (p.Gln832Ter)
1g.16989761G>CCA338239830ATP13A2c.2539C>G (p.Gln847Glu)
c.2407C>G (p.Gln803Glu)
c.2524C>G (p.Gln842Glu)
n.413C>G
c.127C>G (p.Gln43Glu)
c.2536C>G (p.Gln846Glu)
c.2512C>G (p.Gln838Glu)
c.2479C>G (p.Gln827Glu)
c.2422C>G (p.Gln808Glu)
c.2521C>G (p.Gln841Glu)
c.2497C>G (p.Gln833Glu)
c.2332C>G (p.Gln778Glu)
c.2494C>G (p.Gln832Glu)
1g.16989761G>TCA338239834ATP13A2c.2539C>A (p.Gln847Lys)
c.2407C>A (p.Gln803Lys)
c.2524C>A (p.Gln842Lys)
n.413C>A
c.127C>A (p.Gln43Lys)
c.2536C>A (p.Gln846Lys)
c.2512C>A (p.Gln838Lys)
c.2479C>A (p.Gln827Lys)
c.2422C>A (p.Gln808Lys)
c.2521C>A (p.Gln841Lys)
c.2497C>A (p.Gln833Lys)
c.2332C>A (p.Gln778Lys)
c.2494C>A (p.Gln832Lys)
1g.16989762G>ACA416094098ATP13A2c.2538C>T (p.Val846=)
c.2406C>T (p.Val802=)
c.2523C>T (p.Val841=)
n.412C>T
c.126C>T (p.Val42=)
c.2535C>T (p.Val845=)
c.2511C>T (p.Val837=)
c.2478C>T (p.Val826=)
c.2421C>T (p.Val807=)
c.2520C>T (p.Val840=)
c.2496C>T (p.Val832=)
c.2331C>T (p.Val777=)
c.2493C>T (p.Val831=)
 dbSNP gnomAD v4
1g.16989762G>CCA416094099ATP13A2c.2538C>G (p.Val846=)
c.2406C>G (p.Val802=)
c.2523C>G (p.Val841=)
n.412C>G
c.126C>G (p.Val42=)
c.2535C>G (p.Val845=)
c.2511C>G (p.Val837=)
c.2478C>G (p.Val826=)
c.2421C>G (p.Val807=)
c.2520C>G (p.Val840=)
c.2496C>G (p.Val832=)
c.2331C>G (p.Val777=)
c.2493C>G (p.Val831=)
 ClinVar dbSNP
1g.16989762G=CA1156021109ATP13A2c.2538C= (p.Val846=)
c.2406C= (p.Val802=)
c.2523C= (p.Val841=)
n.412C=
c.126C= (p.Val42=)
c.2535C= (p.Val845=)
c.2511C= (p.Val837=)
c.2478C= (p.Val826=)
c.2421C= (p.Val807=)
c.2520C= (p.Val840=)
c.2496C= (p.Val832=)
c.2331C= (p.Val777=)
c.2493C= (p.Val831=)
1g.16989762G>TCA416094100ATP13A2c.2538C>A (p.Val846=)
c.2406C>A (p.Val802=)
c.2523C>A (p.Val841=)
n.412C>A
c.126C>A (p.Val42=)
c.2535C>A (p.Val845=)
c.2511C>A (p.Val837=)
c.2478C>A (p.Val826=)
c.2421C>A (p.Val807=)
c.2520C>A (p.Val840=)
c.2496C>A (p.Val832=)
c.2331C>A (p.Val777=)
c.2493C>A (p.Val831=)
 dbSNP gnomAD v2 gnomAD v4
1g.16989763A>CCA338239836ATP13A2c.2537T>G (p.Val846Gly)
c.2405T>G (p.Val802Gly)
c.2522T>G (p.Val841Gly)
n.411T>G
c.125T>G (p.Val42Gly)
c.2534T>G (p.Val845Gly)
c.2510T>G (p.Val837Gly)
c.2477T>G (p.Val826Gly)
c.2420T>G (p.Val807Gly)
c.2519T>G (p.Val840Gly)
c.2495T>G (p.Val832Gly)
c.2330T>G (p.Val777Gly)
c.2492T>G (p.Val831Gly)
1g.16989763A>GCA338239838ATP13A2c.2537T>C (p.Val846Ala)
c.2405T>C (p.Val802Ala)
c.2522T>C (p.Val841Ala)
n.411T>C
c.125T>C (p.Val42Ala)
c.2534T>C (p.Val845Ala)
c.2510T>C (p.Val837Ala)
c.2477T>C (p.Val826Ala)
c.2420T>C (p.Val807Ala)
c.2519T>C (p.Val840Ala)
c.2495T>C (p.Val832Ala)
c.2330T>C (p.Val777Ala)
c.2492T>C (p.Val831Ala)
1g.16989763A>TCA338239841ATP13A2c.2537T>A (p.Val846Asp)
c.2405T>A (p.Val802Asp)
c.2522T>A (p.Val841Asp)
n.411T>A
c.125T>A (p.Val42Asp)
c.2534T>A (p.Val845Asp)
c.2510T>A (p.Val837Asp)
c.2477T>A (p.Val826Asp)
c.2420T>A (p.Val807Asp)
c.2519T>A (p.Val840Asp)
c.2495T>A (p.Val832Asp)
c.2330T>A (p.Val777Asp)
c.2492T>A (p.Val831Asp)
1g.16989764C>ACA338239844ATP13A2c.2536G>T (p.Val846Phe)
c.2404G>T (p.Val802Phe)
c.2521G>T (p.Val841Phe)
n.410G>T
c.124G>T (p.Val42Phe)
c.2533G>T (p.Val845Phe)
c.2509G>T (p.Val837Phe)
c.2476G>T (p.Val826Phe)
c.2419G>T (p.Val807Phe)
c.2518G>T (p.Val840Phe)
c.2494G>T (p.Val832Phe)
c.2329G>T (p.Val777Phe)
c.2491G>T (p.Val831Phe)
1g.16989764C=CA1156021113ATP13A2c.2536G= (p.Val846=)
c.2404G= (p.Val802=)
c.2521G= (p.Val841=)
n.410G=
c.124G= (p.Val42=)
c.2533G= (p.Val845=)
c.2509G= (p.Val837=)
c.2476G= (p.Val826=)
c.2419G= (p.Val807=)
c.2518G= (p.Val840=)
c.2494G= (p.Val832=)
c.2329G= (p.Val777=)
c.2491G= (p.Val831=)
1g.16989764C>GCA338239856ATP13A2c.2536G>C (p.Val846Leu)
c.2404G>C (p.Val802Leu)
c.2521G>C (p.Val841Leu)
n.410G>C
c.124G>C (p.Val42Leu)
c.2533G>C (p.Val845Leu)
c.2509G>C (p.Val837Leu)
c.2476G>C (p.Val826Leu)
c.2419G>C (p.Val807Leu)
c.2518G>C (p.Val840Leu)
c.2494G>C (p.Val832Leu)
c.2329G>C (p.Val777Leu)
c.2491G>C (p.Val831Leu)
1g.16989764C>TCA18628843ATP13A2c.2536G>A (p.Val846Ile)
c.2404G>A (p.Val802Ile)
c.2521G>A (p.Val841Ile)
n.410G>A
c.124G>A (p.Val42Ile)
c.2533G>A (p.Val845Ile)
c.2509G>A (p.Val837Ile)
c.2476G>A (p.Val826Ile)
c.2419G>A (p.Val807Ile)
c.2518G>A (p.Val840Ile)
c.2494G>A (p.Val832Ile)
c.2329G>A (p.Val777Ile)
c.2491G>A (p.Val831Ile)
 dbSNP
1g.16989765C>ACA416094104ATP13A2c.2535G>T (p.Leu845=)
c.2403G>T (p.Leu801=)
c.2520G>T (p.Leu840=)
n.409G>T
c.123G>T (p.Leu41=)
c.2532G>T (p.Leu844=)
c.2508G>T (p.Leu836=)
c.2475G>T (p.Leu825=)
c.2418G>T (p.Leu806=)
c.2517G>T (p.Leu839=)
c.2493G>T (p.Leu831=)
c.2328G>T (p.Leu776=)
c.2490G>T (p.Leu830=)
1g.16989765C=CA1156021114ATP13A2c.2535G= (p.Leu845=)
c.2403G= (p.Leu801=)
c.2520G= (p.Leu840=)
n.409G=
c.123G= (p.Leu41=)
c.2532G= (p.Leu844=)
c.2508G= (p.Leu836=)
c.2475G= (p.Leu825=)
c.2418G= (p.Leu806=)
c.2517G= (p.Leu839=)
c.2493G= (p.Leu831=)
c.2328G= (p.Leu776=)
c.2490G= (p.Leu830=)
1g.16989765C>GCA416094105ATP13A2c.2535G>C (p.Leu845=)
c.2403G>C (p.Leu801=)
c.2520G>C (p.Leu840=)
n.409G>C
c.123G>C (p.Leu41=)
c.2532G>C (p.Leu844=)
c.2508G>C (p.Leu836=)
c.2475G>C (p.Leu825=)
c.2418G>C (p.Leu806=)
c.2517G>C (p.Leu839=)
c.2493G>C (p.Leu831=)
c.2328G>C (p.Leu776=)
c.2490G>C (p.Leu830=)
1g.16989765C>TCA636789ATP13A2c.2535G>A (p.Leu845=)
c.2403G>A (p.Leu801=)
c.2520G>A (p.Leu840=)
n.409G>A
c.123G>A (p.Leu41=)
c.2532G>A (p.Leu844=)
c.2508G>A (p.Leu836=)
c.2475G>A (p.Leu825=)
c.2418G>A (p.Leu806=)
c.2517G>A (p.Leu839=)
c.2493G>A (p.Leu831=)
c.2328G>A (p.Leu776=)
c.2490G>A (p.Leu830=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16989766A>CCA338239871ATP13A2c.2534T>G (p.Leu845Arg)
c.2402T>G (p.Leu801Arg)
c.2519T>G (p.Leu840Arg)
n.408T>G
c.122T>G (p.Leu41Arg)
c.2531T>G (p.Leu844Arg)
c.2507T>G (p.Leu836Arg)
c.2474T>G (p.Leu825Arg)
c.2417T>G (p.Leu806Arg)
c.2516T>G (p.Leu839Arg)
c.2492T>G (p.Leu831Arg)
c.2327T>G (p.Leu776Arg)
c.2489T>G (p.Leu830Arg)
1g.16989766A>GCA338239864ATP13A2c.2534T>C (p.Leu845Pro)
c.2402T>C (p.Leu801Pro)
c.2519T>C (p.Leu840Pro)
n.408T>C
c.122T>C (p.Leu41Pro)
c.2531T>C (p.Leu844Pro)
c.2507T>C (p.Leu836Pro)
c.2474T>C (p.Leu825Pro)
c.2417T>C (p.Leu806Pro)
c.2516T>C (p.Leu839Pro)
c.2492T>C (p.Leu831Pro)
c.2327T>C (p.Leu776Pro)
c.2489T>C (p.Leu830Pro)
1g.16989766A>TCA338239869ATP13A2c.2534T>A (p.Leu845Gln)
c.2402T>A (p.Leu801Gln)
c.2519T>A (p.Leu840Gln)
n.408T>A
c.122T>A (p.Leu41Gln)
c.2531T>A (p.Leu844Gln)
c.2507T>A (p.Leu836Gln)
c.2474T>A (p.Leu825Gln)
c.2417T>A (p.Leu806Gln)
c.2516T>A (p.Leu839Gln)
c.2492T>A (p.Leu831Gln)
c.2327T>A (p.Leu776Gln)
c.2489T>A (p.Leu830Gln)
 gnomAD v4
1g.16989767G>ACA416094106ATP13A2c.2533C>T (p.Leu845=)
c.2401C>T (p.Leu801=)
c.2518C>T (p.Leu840=)
n.407C>T
c.121C>T (p.Leu41=)
c.2530C>T (p.Leu844=)
c.2506C>T (p.Leu836=)
c.2473C>T (p.Leu825=)
c.2416C>T (p.Leu806=)
c.2515C>T (p.Leu839=)
c.2491C>T (p.Leu831=)
c.2326C>T (p.Leu776=)
c.2488C>T (p.Leu830=)
1g.16989767G>CCA338239877ATP13A2c.2533C>G (p.Leu845Val)
c.2401C>G (p.Leu801Val)
c.2518C>G (p.Leu840Val)
n.407C>G
c.121C>G (p.Leu41Val)
c.2530C>G (p.Leu844Val)
c.2506C>G (p.Leu836Val)
c.2473C>G (p.Leu825Val)
c.2416C>G (p.Leu806Val)
c.2515C>G (p.Leu839Val)
c.2491C>G (p.Leu831Val)
c.2326C>G (p.Leu776Val)
c.2488C>G (p.Leu830Val)
 gnomAD v4
1g.16989767G>TCA338239883ATP13A2c.2533C>A (p.Leu845Met)
c.2401C>A (p.Leu801Met)
c.2518C>A (p.Leu840Met)
n.407C>A
c.121C>A (p.Leu41Met)
c.2530C>A (p.Leu844Met)
c.2506C>A (p.Leu836Met)
c.2473C>A (p.Leu825Met)
c.2416C>A (p.Leu806Met)
c.2515C>A (p.Leu839Met)
c.2491C>A (p.Leu831Met)
c.2326C>A (p.Leu776Met)
c.2488C>A (p.Leu830Met)
1g.16989768G>ACA416094107ATP13A2c.2532C>T (p.Val844=)
c.2400C>T (p.Val800=)
c.2517C>T (p.Val839=)
n.406C>T
c.120C>T (p.Val40=)
c.2529C>T (p.Val843=)
c.2505C>T (p.Val835=)
c.2472C>T (p.Val824=)
c.2415C>T (p.Val805=)
c.2514C>T (p.Val838=)
c.2490C>T (p.Val830=)
c.2325C>T (p.Val775=)
c.2487C>T (p.Val829=)
1g.16989768G>CCA416094109ATP13A2c.2532C>G (p.Val844=)
c.2400C>G (p.Val800=)
c.2517C>G (p.Val839=)
n.406C>G
c.120C>G (p.Val40=)
c.2529C>G (p.Val843=)
c.2505C>G (p.Val835=)
c.2472C>G (p.Val824=)
c.2415C>G (p.Val805=)
c.2514C>G (p.Val838=)
c.2490C>G (p.Val830=)
c.2325C>G (p.Val775=)
c.2487C>G (p.Val829=)
1g.16989768G=CA1156021120ATP13A2c.2532C= (p.Val844=)
c.2400C= (p.Val800=)
c.2517C= (p.Val839=)
n.406C=
c.120C= (p.Val40=)
c.2529C= (p.Val843=)
c.2505C= (p.Val835=)
c.2472C= (p.Val824=)
c.2415C= (p.Val805=)
c.2514C= (p.Val838=)
c.2490C= (p.Val830=)
c.2325C= (p.Val775=)
c.2487C= (p.Val829=)
1g.16989768G>TCA416094108ATP13A2c.2532C>A (p.Val844=)
c.2400C>A (p.Val800=)
c.2517C>A (p.Val839=)
n.406C>A
c.120C>A (p.Val40=)
c.2529C>A (p.Val843=)
c.2505C>A (p.Val835=)
c.2472C>A (p.Val824=)
c.2415C>A (p.Val805=)
c.2514C>A (p.Val838=)
c.2490C>A (p.Val830=)
c.2325C>A (p.Val775=)
c.2487C>A (p.Val829=)
 dbSNP
1g.16989769A>CCA338239888ATP13A2c.2531T>G (p.Val844Gly)
c.2399T>G (p.Val800Gly)
c.2516T>G (p.Val839Gly)
n.405T>G
c.119T>G (p.Val40Gly)
c.2528T>G (p.Val843Gly)
c.2504T>G (p.Val835Gly)
c.2471T>G (p.Val824Gly)
c.2414T>G (p.Val805Gly)
c.2513T>G (p.Val838Gly)
c.2489T>G (p.Val830Gly)
c.2324T>G (p.Val775Gly)
c.2486T>G (p.Val829Gly)
1g.16989769A>GCA338239891ATP13A2c.2531T>C (p.Val844Ala)
c.2399T>C (p.Val800Ala)
c.2516T>C (p.Val839Ala)
n.405T>C
c.119T>C (p.Val40Ala)
c.2528T>C (p.Val843Ala)
c.2504T>C (p.Val835Ala)
c.2471T>C (p.Val824Ala)
c.2414T>C (p.Val805Ala)
c.2513T>C (p.Val838Ala)
c.2489T>C (p.Val830Ala)
c.2324T>C (p.Val775Ala)
c.2486T>C (p.Val829Ala)
1g.16989769A>TCA338239893ATP13A2c.2531T>A (p.Val844Asp)
c.2399T>A (p.Val800Asp)
c.2516T>A (p.Val839Asp)
n.405T>A
c.119T>A (p.Val40Asp)
c.2528T>A (p.Val843Asp)
c.2504T>A (p.Val835Asp)
c.2471T>A (p.Val824Asp)
c.2414T>A (p.Val805Asp)
c.2513T>A (p.Val838Asp)
c.2489T>A (p.Val830Asp)
c.2324T>A (p.Val775Asp)
c.2486T>A (p.Val829Asp)
1g.16989770C>ACA338239894ATP13A2c.2530G>T (p.Val844Phe)
c.2398G>T (p.Val800Phe)
c.2515G>T (p.Val839Phe)
n.404G>T
c.118G>T (p.Val40Phe)
c.2527G>T (p.Val843Phe)
c.2503G>T (p.Val835Phe)
c.2470G>T (p.Val824Phe)
c.2413G>T (p.Val805Phe)
c.2512G>T (p.Val838Phe)
c.2488G>T (p.Val830Phe)
c.2323G>T (p.Val775Phe)
c.2485G>T (p.Val829Phe)
1g.16989770C>GCA338239904ATP13A2c.2530G>C (p.Val844Leu)
c.2398G>C (p.Val800Leu)
c.2515G>C (p.Val839Leu)
n.404G>C
c.118G>C (p.Val40Leu)
c.2527G>C (p.Val843Leu)
c.2503G>C (p.Val835Leu)
c.2470G>C (p.Val824Leu)
c.2413G>C (p.Val805Leu)
c.2512G>C (p.Val838Leu)
c.2488G>C (p.Val830Leu)
c.2323G>C (p.Val775Leu)
c.2485G>C (p.Val829Leu)
1g.16989770C>TCA338239915ATP13A2c.2530G>A (p.Val844Ile)
c.2398G>A (p.Val800Ile)
c.2515G>A (p.Val839Ile)
n.404G>A
c.118G>A (p.Val40Ile)
c.2527G>A (p.Val843Ile)
c.2503G>A (p.Val835Ile)
c.2470G>A (p.Val824Ile)
c.2413G>A (p.Val805Ile)
c.2512G>A (p.Val838Ile)
c.2488G>A (p.Val830Ile)
c.2323G>A (p.Val775Ile)
c.2485G>A (p.Val829Ile)
1g.16989771C>ACA338239920ATP13A2c.2530-1G>T (n.2530-1G>T)
c.2398-1G>T (n.2398-1G>T)
c.2515-1G>T (n.2515-1G>T)
n.404-1G>T
c.118-1G>T (n.118-1G>T)
c.2527-1G>T (n.2527-1G>T)
c.2503-1G>T (n.2503-1G>T)
c.2470-1G>T (n.2470-1G>T)
c.2413-1G>T (n.2413-1G>T)
c.2512-1G>T (n.2512-1G>T)
c.2488-1G>T (n.2488-1G>T)
c.2323-1G>T (n.2323-1G>T)
c.2485-1G>T (n.2485-1G>T)
1g.16989771C>GCA338239924ATP13A2c.2530-1G>C (n.2530-1G>C)
c.2398-1G>C (n.2398-1G>C)
c.2515-1G>C (n.2515-1G>C)
n.404-1G>C
c.118-1G>C (n.118-1G>C)
c.2527-1G>C (n.2527-1G>C)
c.2503-1G>C (n.2503-1G>C)
c.2470-1G>C (n.2470-1G>C)
c.2413-1G>C (n.2413-1G>C)
c.2512-1G>C (n.2512-1G>C)
c.2488-1G>C (n.2488-1G>C)
c.2323-1G>C (n.2323-1G>C)
c.2485-1G>C (n.2485-1G>C)
1g.16989771C>TCA338239925ATP13A2c.2530-1G>A (n.2530-1G>A)
c.2398-1G>A (n.2398-1G>A)
c.2515-1G>A (n.2515-1G>A)
n.404-1G>A
c.118-1G>A (n.118-1G>A)
c.2527-1G>A (n.2527-1G>A)
c.2503-1G>A (n.2503-1G>A)
c.2470-1G>A (n.2470-1G>A)
c.2413-1G>A (n.2413-1G>A)
c.2512-1G>A (n.2512-1G>A)
c.2488-1G>A (n.2488-1G>A)
c.2323-1G>A (n.2323-1G>A)
c.2485-1G>A (n.2485-1G>A)
1g.16989772T>ACA338239942ATP13A2c.2530-2A>T (n.2530-2A>T)
c.2398-2A>T (n.2398-2A>T)
c.2515-2A>T (n.2515-2A>T)
n.404-2A>T
c.118-2A>T (n.118-2A>T)
c.2527-2A>T (n.2527-2A>T)
c.2503-2A>T (n.2503-2A>T)
c.2470-2A>T (n.2470-2A>T)
c.2413-2A>T (n.2413-2A>T)
c.2512-2A>T (n.2512-2A>T)
c.2488-2A>T (n.2488-2A>T)
c.2323-2A>T (n.2323-2A>T)
c.2485-2A>T (n.2485-2A>T)
1g.16989772T>CCA338239936ATP13A2c.2530-2A>G (n.2530-2A>G)
c.2398-2A>G (n.2398-2A>G)
c.2515-2A>G (n.2515-2A>G)
n.404-2A>G
c.118-2A>G (n.118-2A>G)
c.2527-2A>G (n.2527-2A>G)
c.2503-2A>G (n.2503-2A>G)
c.2470-2A>G (n.2470-2A>G)
c.2413-2A>G (n.2413-2A>G)
c.2512-2A>G (n.2512-2A>G)
c.2488-2A>G (n.2488-2A>G)
c.2323-2A>G (n.2323-2A>G)
c.2485-2A>G (n.2485-2A>G)
1g.16989772T>GCA338239930ATP13A2c.2530-2A>C (n.2530-2A>C)
c.2398-2A>C (n.2398-2A>C)
c.2515-2A>C (n.2515-2A>C)
n.404-2A>C
c.118-2A>C (n.118-2A>C)
c.2527-2A>C (n.2527-2A>C)
c.2503-2A>C (n.2503-2A>C)
c.2470-2A>C (n.2470-2A>C)
c.2413-2A>C (n.2413-2A>C)
c.2512-2A>C (n.2512-2A>C)
c.2488-2A>C (n.2488-2A>C)
c.2323-2A>C (n.2323-2A>C)
c.2485-2A>C (n.2485-2A>C)
 gnomAD v4

Number of alleles fetched