Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.138732807_138732851del | CA2685127629 | ATP6V0A4 | c.1908+26_1908+70del (n.1908+26_1908+70del) c.1134+26_1134+70del (n.1134+26_1134+70del) c.801+26_801+70del (n.801+26_801+70del) | gnomAD v4 |
7 | g.138732850G>A | CA578622013 | ATP6V0A4 | c.1908+27C>T (n.1908+27C>T) c.1134+27C>T (n.1134+27C>T) c.801+27C>T (n.801+27C>T) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732850G>C | CA834052802 | ATP6V0A4 | c.1908+27C>G (n.1908+27C>G) c.1134+27C>G (n.1134+27C>G) c.801+27C>G (n.801+27C>G) | dbSNP gnomAD v4 |
7 | g.138732850G= | CA1746776801 | ATP6V0A4 | c.1908+27C= (n.1908+27C=) c.1134+27C= (n.1134+27C=) c.801+27C= (n.801+27C=) | |
7 | g.138732850G>T | CA2685127673 | ATP6V0A4 | c.1908+27C>A (n.1908+27C>A) c.1134+27C>A (n.1134+27C>A) c.801+27C>A (n.801+27C>A) | gnomAD v4 |
7 | g.138732850dup | CA1107807830 | ATP6V0A4 | c.1908+27dup (n.1908+27dup) c.1134+27dup (n.1134+27dup) c.801+27dup (n.801+27dup) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.138732850_138732851del | CA1107807831 | ATP6V0A4 | c.1908+26_1908+27del (n.1908+26_1908+27del) c.1134+26_1134+27del (n.1134+26_1134+27del) c.801+26_801+27del (n.801+26_801+27del) | gnomAD v3 gnomAD v4 |
7 | g.138732850_138732851delinsGT | CA1746776800 | ATP6V0A4 | c.1908+26_1908+27delinsAC (n.1908+26_1908+27delinsAC) c.1134+26_1134+27delinsAC (n.1134+26_1134+27delinsAC) c.801+26_801+27delinsAC (n.801+26_801+27delinsAC) | |
7 | g.138732850_138732851insA | CA578622014 | ATP6V0A4 | c.1908+26_1908+27insT (n.1908+26_1908+27insT) c.1134+26_1134+27insT (n.1134+26_1134+27insT) c.801+26_801+27insT (n.801+26_801+27insT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732850_138732851insAA | CA2778102816 | ATP6V0A4 | c.1908+26_1908+27insTT (n.1908+26_1908+27insTT) c.1134+26_1134+27insTT (n.1134+26_1134+27insTT) c.801+26_801+27insTT (n.801+26_801+27insTT) | |
7 | g.138732850_138732851insGA | CA2685127675 | ATP6V0A4 | c.1908+26_1908+27insTC (n.1908+26_1908+27insTC) c.1134+26_1134+27insTC (n.1134+26_1134+27insTC) c.801+26_801+27insTC (n.801+26_801+27insTC) | gnomAD v4 |
7 | g.138732851del | CA1107807837 | ATP6V0A4 | c.1908+26del (n.1908+26del) c.1134+26del (n.1134+26del) c.801+26del (n.801+26del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.138732851T>A | CA578622015 | ATP6V0A4 | c.1908+26A>T (n.1908+26A>T) c.1134+26A>T (n.1134+26A>T) c.801+26A>T (n.801+26A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732851T>C | CA2685127674 | ATP6V0A4 | c.1908+26A>G (n.1908+26A>G) c.1134+26A>G (n.1134+26A>G) c.801+26A>G (n.801+26A>G) | gnomAD v4 |
7 | g.138732851T>G | CA1107807839 | ATP6V0A4 | c.1908+26A>C (n.1908+26A>C) c.1134+26A>C (n.1134+26A>C) c.801+26A>C (n.801+26A>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.138732851T= | CA1746776802 | ATP6V0A4 | c.1908+26A= (n.1908+26A=) c.1134+26A= (n.1134+26A=) c.801+26A= (n.801+26A=) | |
7 | g.138732851dup | CA4504606 | ATP6V0A4 | c.1908+26dup (n.1908+26dup) c.1134+26dup (n.1134+26dup) c.801+26dup (n.801+26dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732851_138732852delinsTA | CA2695196195 | ATP6V0A4 | c.1908+25_1908+26delinsTA (n.1908+25_1908+26delinsTA) c.1134+25_1134+26delinsTA (n.1134+25_1134+26delinsTA) c.801+25_801+26delinsTA (n.801+25_801+26delinsTA) | |
7 | g.138732851_138732853delinsTAA | CA1746776803 | ATP6V0A4 | c.1908+24_1908+26delinsTTA (n.1908+24_1908+26delinsTTA) c.1134+24_1134+26delinsTTA (n.1134+24_1134+26delinsTTA) c.801+24_801+26delinsTTA (n.801+24_801+26delinsTTA) | |
7 | g.138732851_138732852insC | CA1746776804 | ATP6V0A4 | c.1908+25_1908+26insG (n.1908+25_1908+26insG) c.1134+25_1134+26insG (n.1134+25_1134+26insG) c.801+25_801+26insG (n.801+25_801+26insG) | dbSNP gnomAD v4 |
7 | g.138732851_138732852insTA | CA1746776805 | ATP6V0A4 | c.1908+25_1908+26insTA (n.1908+25_1908+26insTA) c.1134+25_1134+26insTA (n.1134+25_1134+26insTA) c.801+25_801+26insTA (n.801+25_801+26insTA) | dbSNP gnomAD v4 |
7 | g.138732852A= | CA1746776806 | ATP6V0A4 | c.1908+25T= (n.1908+25T=) c.1134+25T= (n.1134+25T=) c.801+25T= (n.801+25T=) | |
7 | g.138732852A>G | CA4504612 | ATP6V0A4 | c.1908+25T>C (n.1908+25T>C) c.1134+25T>C (n.1134+25T>C) c.801+25T>C (n.801+25T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732852A>T | CA578622016 | ATP6V0A4 | c.1908+25T>A (n.1908+25T>A) c.1134+25T>A (n.1134+25T>A) c.801+25T>A (n.801+25T>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138732864dup | CA4504608 | ATP6V0A4 | c.1908+25dup (n.1908+25dup) c.1134+25dup (n.1134+25dup) c.801+25dup (n.801+25dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732863_138732864dup | CA4504609 | ATP6V0A4 | c.1908+24_1908+25dup (n.1908+24_1908+25dup) c.1134+24_1134+25dup (n.1134+24_1134+25dup) c.801+24_801+25dup (n.801+24_801+25dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732862_138732864dup | CA4504611 | ATP6V0A4 | c.1908+23_1908+25dup (n.1908+23_1908+25dup) c.1134+23_1134+25dup (n.1134+23_1134+25dup) c.801+23_801+25dup (n.801+23_801+25dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732861_138732864dup | CA1107807859 | ATP6V0A4 | c.1908+22_1908+25dup (n.1908+22_1908+25dup) c.1134+22_1134+25dup (n.1134+22_1134+25dup) c.801+22_801+25dup (n.801+22_801+25dup) | gnomAD v3 gnomAD v4 |
7 | g.138732860_138732864dup | CA2685127679 | ATP6V0A4 | c.1908+21_1908+25dup (n.1908+21_1908+25dup) c.1134+21_1134+25dup (n.1134+21_1134+25dup) c.801+21_801+25dup (n.801+21_801+25dup) | gnomAD v4 |
7 | g.138732859_138732864dup | CA2685127678 | ATP6V0A4 | c.1908+20_1908+25dup (n.1908+20_1908+25dup) c.1134+20_1134+25dup (n.1134+20_1134+25dup) c.801+20_801+25dup (n.801+20_801+25dup) | gnomAD v4 |
7 | g.138732854_138732864dup | CA2685127677 | ATP6V0A4 | c.1908+15_1908+25dup (n.1908+15_1908+25dup) c.1134+15_1134+25dup (n.1134+15_1134+25dup) c.801+15_801+25dup (n.801+15_801+25dup) | gnomAD v4 |
7 | g.138732864del | CA4504607 | ATP6V0A4 | c.1908+25del (n.1908+25del) c.1134+25del (n.1134+25del) c.801+25del (n.801+25del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732863_138732864del | CA4504610 | ATP6V0A4 | c.1908+24_1908+25del (n.1908+24_1908+25del) c.1134+24_1134+25del (n.1134+24_1134+25del) c.801+24_801+25del (n.801+24_801+25del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732862_138732864del | CA1107807853 | ATP6V0A4 | c.1908+23_1908+25del (n.1908+23_1908+25del) c.1134+23_1134+25del (n.1134+23_1134+25del) c.801+23_801+25del (n.801+23_801+25del) | gnomAD v3 gnomAD v4 |
7 | g.138732861_138732864del | CA2685127676 | ATP6V0A4 | c.1908+22_1908+25del (n.1908+22_1908+25del) c.1134+22_1134+25del (n.1134+22_1134+25del) c.801+22_801+25del (n.801+22_801+25del) | gnomAD v4 |
7 | g.138732853A>G | CA2740893286 | ATP6V0A4 | c.1908+24T>C (n.1908+24T>C) c.1134+24T>C (n.1134+24T>C) c.801+24T>C (n.801+24T>C) | |
7 | g.138732853_138732854insG | CA2685127680 | ATP6V0A4 | c.1908+23_1908+24insC (n.1908+23_1908+24insC) c.1134+23_1134+24insC (n.1134+23_1134+24insC) c.801+23_801+24insC (n.801+23_801+24insC) | gnomAD v4 |
7 | g.138732854A= | CA1746776807 | ATP6V0A4 | c.1908+23T= (n.1908+23T=) c.1134+23T= (n.1134+23T=) c.801+23T= (n.801+23T=) | |
7 | g.138732854A>G | CA2740893287 | ATP6V0A4 | c.1908+23T>C (n.1908+23T>C) c.1134+23T>C (n.1134+23T>C) c.801+23T>C (n.801+23T>C) | |
7 | g.138732854_138732855insG | CA4504613 | ATP6V0A4 | c.1908+22_1908+23insC (n.1908+22_1908+23insC) c.1134+22_1134+23insC (n.1134+22_1134+23insC) c.801+22_801+23insC (n.801+22_801+23insC) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732855A>G | CA2685127681 | ATP6V0A4 | c.1908+22T>C (n.1908+22T>C) c.1134+22T>C (n.1134+22T>C) c.801+22T>C (n.801+22T>C) | gnomAD v4 |
7 | g.138732856_138732857insC | CA2579035689 | ATP6V0A4 | c.1908+20_1908+21insG (n.1908+20_1908+21insG) c.1134+20_1134+21insG (n.1134+20_1134+21insG) c.801+20_801+21insG (n.801+20_801+21insG) | |
7 | g.138732858A>G | CA2685127682 | ATP6V0A4 | c.1908+19T>C (n.1908+19T>C) c.1134+19T>C (n.1134+19T>C) c.801+19T>C (n.801+19T>C) | gnomAD v4 |
7 | g.138732859A>G | CA2685127683 | ATP6V0A4 | c.1908+18T>C (n.1908+18T>C) c.1134+18T>C (n.1134+18T>C) c.801+18T>C (n.801+18T>C) | gnomAD v4 |
7 | g.138732859_138732860insT | CA2685127684 | ATP6V0A4 | c.1908+17_1908+18insA (n.1908+17_1908+18insA) c.1134+17_1134+18insA (n.1134+17_1134+18insA) c.801+17_801+18insA (n.801+17_801+18insA) | gnomAD v4 |
7 | g.138732860A>G | CA2685127685 | ATP6V0A4 | c.1908+17T>C (n.1908+17T>C) c.1134+17T>C (n.1134+17T>C) c.801+17T>C (n.801+17T>C) | gnomAD v4 |
7 | g.138732861A= | CA1746776808 | ATP6V0A4 | c.1908+16T= (n.1908+16T=) c.1134+16T= (n.1134+16T=) c.801+16T= (n.801+16T=) | |
7 | g.138732861_138732862insG | CA578622017 | ATP6V0A4 | c.1908+15_1908+16insC (n.1908+15_1908+16insC) c.1134+15_1134+16insC (n.1134+15_1134+16insC) c.801+15_801+16insC (n.801+15_801+16insC) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138732862A= | CA1746776809 | ATP6V0A4 | c.1908+15T= (n.1908+15T=) c.1134+15T= (n.1134+15T=) c.801+15T= (n.801+15T=) | |
7 | g.138732862A>T | CA4504614 | ATP6V0A4 | c.1908+15T>A (n.1908+15T>A) c.1134+15T>A (n.1134+15T>A) c.801+15T>A (n.801+15T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732863A>T | CA2685127686 | ATP6V0A4 | c.1908+14T>A (n.1908+14T>A) c.1134+14T>A (n.1134+14T>A) c.801+14T>A (n.801+14T>A) | gnomAD v4 |
7 | g.138732864A= | CA1746776810 | ATP6V0A4 | c.1908+13T= (n.1908+13T=) c.1134+13T= (n.1134+13T=) c.801+13T= (n.801+13T=) | |
7 | g.138732864A>G | CA2685127687 | ATP6V0A4 | c.1908+13T>C (n.1908+13T>C) c.1134+13T>C (n.1134+13T>C) c.801+13T>C (n.801+13T>C) | gnomAD v4 |
7 | g.138732864A>T | CA2579035690 | ATP6V0A4 | c.1908+13T>A (n.1908+13T>A) c.1134+13T>A (n.1134+13T>A) c.801+13T>A (n.801+13T>A) | ClinVar |
7 | g.138732865_138732871del | CA2740893288 | ATP6V0A4 | c.1908+7_1908+13del (n.1908+7_1908+13del) c.1134+7_1134+13del (n.1134+7_1134+13del) c.801+7_801+13del (n.801+7_801+13del) | |
7 | g.138732864_138732865insG | CA2685127691 | ATP6V0A4 | c.1908+12_1908+13insC (n.1908+12_1908+13insC) c.1134+12_1134+13insC (n.1134+12_1134+13insC) c.801+12_801+13insC (n.801+12_801+13insC) | gnomAD v4 |
7 | g.138732865del | CA2685127690 | ATP6V0A4 | c.1908+12del (n.1908+12del) c.1134+12del (n.1134+12del) c.801+12del (n.801+12del) | gnomAD v4 |
7 | g.138732865T>A | CA4504616 | ATP6V0A4 | c.1908+12A>T (n.1908+12A>T) c.1134+12A>T (n.1134+12A>T) c.801+12A>T (n.801+12A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732865T>C | CA2685127689 | ATP6V0A4 | c.1908+12A>G (n.1908+12A>G) c.1134+12A>G (n.1134+12A>G) c.801+12A>G (n.801+12A>G) | gnomAD v4 |
7 | g.138732865T= | CA1746776812 | ATP6V0A4 | c.1908+12A= (n.1908+12A=) c.1134+12A= (n.1134+12A=) c.801+12A= (n.801+12A=) | |
7 | g.138732865dup | CA4504615 | ATP6V0A4 | c.1908+12dup (n.1908+12dup) c.1134+12dup (n.1134+12dup) c.801+12dup (n.801+12dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138732865_138732868del | CA2685127688 | ATP6V0A4 | c.1908+9_1908+12del (n.1908+9_1908+12del) c.1134+9_1134+12del (n.1134+9_1134+12del) c.801+9_801+12del (n.801+9_801+12del) | gnomAD v4 |
7 | g.138732865_138732868delinsTAGC | CA1746776811 | ATP6V0A4 | c.1908+9_1908+12delinsGCTA (n.1908+9_1908+12delinsGCTA) c.1134+9_1134+12delinsGCTA (n.1134+9_1134+12delinsGCTA) c.801+9_801+12delinsGCTA (n.801+9_801+12delinsGCTA) | |
7 | g.138732866A= | CA1746776813 | ATP6V0A4 | c.1908+11T= (n.1908+11T=) c.1134+11T= (n.1134+11T=) c.801+11T= (n.801+11T=) | |
7 | g.138732866A>G | CA2685127692 | ATP6V0A4 | c.1908+11T>C (n.1908+11T>C) c.1134+11T>C (n.1134+11T>C) c.801+11T>C (n.801+11T>C) | gnomAD v4 |
7 | g.138732866A>T | CA578622018 | ATP6V0A4 | c.1908+11T>A (n.1908+11T>A) c.1134+11T>A (n.1134+11T>A) c.801+11T>A (n.801+11T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732868_138732870del | CA4504617 | ATP6V0A4 | c.1908+9_1908+11del (n.1908+9_1908+11del) c.1134+9_1134+11del (n.1134+9_1134+11del) c.801+9_801+11del (n.801+9_801+11del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732867G>A | CA578622020 | ATP6V0A4 | c.1908+10C>T (n.1908+10C>T) c.1134+10C>T (n.1134+10C>T) c.801+10C>T (n.801+10C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.138732867G= | CA1746776814 | ATP6V0A4 | c.1908+10C= (n.1908+10C=) c.1134+10C= (n.1134+10C=) c.801+10C= (n.801+10C=) | |
7 | g.138732867G>T | CA4504618 | ATP6V0A4 | c.1908+10C>A (n.1908+10C>A) c.1134+10C>A (n.1134+10C>A) c.801+10C>A (n.801+10C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732867_138732868del | CA578622019 | ATP6V0A4 | c.1908+9_1908+10del (n.1908+9_1908+10del) c.1134+9_1134+10del (n.1134+9_1134+10del) c.801+9_801+10del (n.801+9_801+10del) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138732868C>A | CA4504619 | ATP6V0A4 | c.1908+9G>T (n.1908+9G>T) c.1134+9G>T (n.1134+9G>T) c.801+9G>T (n.801+9G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732868C= | CA1746776815 | ATP6V0A4 | c.1908+9G= (n.1908+9G=) c.1134+9G= (n.1134+9G=) c.801+9G= (n.801+9G=) | |
7 | g.138732870G>A | CA578622021 | ATP6V0A4 | c.1908+7C>T (n.1908+7C>T) c.1134+7C>T (n.1134+7C>T) c.801+7C>T (n.801+7C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138732870G= | CA1746776816 | ATP6V0A4 | c.1908+7C= (n.1908+7C=) c.1134+7C= (n.1134+7C=) c.801+7C= (n.801+7C=) | |
7 | g.138732870G>T | CA2685127693 | ATP6V0A4 | c.1908+7C>A (n.1908+7C>A) c.1134+7C>A (n.1134+7C>A) c.801+7C>A (n.801+7C>A) | gnomAD v4 |
7 | g.138732871_138732873dup | CA2685127694 | ATP6V0A4 | c.1908+4_1908+6dup (n.1908+4_1908+6dup) c.1134+4_1134+6dup (n.1134+4_1134+6dup) c.801+4_801+6dup (n.801+4_801+6dup) | dbSNP gnomAD v4 |
7 | g.138732874T>A | CA578622022 | ATP6V0A4 | c.1908+3A>T (n.1908+3A>T) c.1134+3A>T (n.1134+3A>T) c.801+3A>T (n.801+3A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732874T= | CA1746776817 | ATP6V0A4 | c.1908+3A= (n.1908+3A=) c.1134+3A= (n.1134+3A=) c.801+3A= (n.801+3A=) | |
7 | g.138732875A>C | CA369378555 | ATP6V0A4 | c.1908+2T>G (n.1908+2T>G) c.1134+2T>G (n.1134+2T>G) c.801+2T>G (n.801+2T>G) | |
7 | g.138732875A>G | CA369378556 | ATP6V0A4 | c.1908+2T>C (n.1908+2T>C) c.1134+2T>C (n.1134+2T>C) c.801+2T>C (n.801+2T>C) | |
7 | g.138732875A>T | CA369378557 | ATP6V0A4 | c.1908+2T>A (n.1908+2T>A) c.1134+2T>A (n.1134+2T>A) c.801+2T>A (n.801+2T>A) | |
7 | g.138732876C>A | CA4504620 | ATP6V0A4 | c.1908+1G>T (n.1908+1G>T) c.1134+1G>T (n.1134+1G>T) c.801+1G>T (n.801+1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138732876C= | CA1746776818 | ATP6V0A4 | c.1908+1G= (n.1908+1G=) c.1134+1G= (n.1134+1G=) c.801+1G= (n.801+1G=) | |
7 | g.138732876C>G | CA369378558 | ATP6V0A4 | c.1908+1G>C (n.1908+1G>C) c.1134+1G>C (n.1134+1G>C) c.801+1G>C (n.801+1G>C) | |
7 | g.138732876C>T | CA369378559 | ATP6V0A4 | c.1908+1G>A (n.1908+1G>A) c.1134+1G>A (n.1134+1G>A) c.801+1G>A (n.801+1G>A) | |
7 | g.138732877C>A | CA369378561 | ATP6V0A4 | c.1908G>T (p.Gln636His) c.1134G>T (p.Gln378His) c.801G>T (p.Gln267His) | dbSNP COSMIC |
7 | g.138732877C>G | CA369378560 | ATP6V0A4 | c.1908G>C (p.Gln636His) c.1134G>C (p.Gln378His) c.801G>C (p.Gln267His) | dbSNP gnomAD v4 COSMIC |
7 | g.138732877C>T | CA458150185 | ATP6V0A4 | c.1908G>A (p.Gln636=) c.1134G>A (p.Gln378=) c.801G>A (p.Gln267=) | |
7 | g.138732878T>A | CA369378562 | ATP6V0A4 | c.1907A>T (p.Gln636Leu) c.1133A>T (p.Gln378Leu) c.800A>T (p.Gln267Leu) | gnomAD v4 |
7 | g.138732878T>C | CA4504621 | ATP6V0A4 | c.1907A>G (p.Gln636Arg) c.1133A>G (p.Gln378Arg) c.800A>G (p.Gln267Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138732878T>G | CA369378563 | ATP6V0A4 | c.1907A>C (p.Gln636Pro) c.1133A>C (p.Gln378Pro) c.800A>C (p.Gln267Pro) | |
7 | g.138732878T= | CA1746776819 | ATP6V0A4 | c.1907A= (p.Gln636=) c.1133A= (p.Gln378=) c.800A= (p.Gln267=) | |
7 | g.138732879G>A | CA369378564 | ATP6V0A4 | c.1906C>T (p.Gln636Ter) c.1132C>T (p.Gln378Ter) c.799C>T (p.Gln267Ter) | |
7 | g.138732879G>C | CA369378565 | ATP6V0A4 | c.1906C>G (p.Gln636Glu) c.1132C>G (p.Gln378Glu) c.799C>G (p.Gln267Glu) | |
7 | g.138732879G>T | CA369378566 | ATP6V0A4 | c.1906C>A (p.Gln636Lys) c.1132C>A (p.Gln378Lys) c.799C>A (p.Gln267Lys) | gnomAD v4 |
7 | g.138732880A>C | CA369378567 | ATP6V0A4 | c.1905T>G (p.His635Gln) c.1131T>G (p.His377Gln) c.798T>G (p.His266Gln) | |
7 | g.138732880A>G | CA458150186 | ATP6V0A4 | c.1905T>C (p.His635=) c.1131T>C (p.His377=) c.798T>C (p.His266=) | |
7 | g.138732880A>T | CA369378568 | ATP6V0A4 | c.1905T>A (p.His635Gln) c.1131T>A (p.His377Gln) c.798T>A (p.His266Gln) | |
7 | g.138732881T>A | CA369378569 | ATP6V0A4 | c.1904A>T (p.His635Leu) c.1130A>T (p.His377Leu) c.797A>T (p.His266Leu) | gnomAD v4 |
7 | g.138732881T>C | CA369378570 | ATP6V0A4 | c.1904A>G (p.His635Arg) c.1130A>G (p.His377Arg) c.797A>G (p.His266Arg) | |
7 | g.138732881T>G | CA369378571 | ATP6V0A4 | c.1904A>C (p.His635Pro) c.1130A>C (p.His377Pro) c.797A>C (p.His266Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.138732881T= | CA1746776820 | ATP6V0A4 | c.1904A= (p.His635=) c.1130A= (p.His377=) c.797A= (p.His266=) | |
7 | g.138732882G>A | CA369378572 | ATP6V0A4 | c.1903C>T (p.His635Tyr) c.1129C>T (p.His377Tyr) c.796C>T (p.His266Tyr) | |
7 | g.138732882G>C | CA369378573 | ATP6V0A4 | c.1903C>G (p.His635Asp) c.1129C>G (p.His377Asp) c.796C>G (p.His266Asp) | |
7 | g.138732882G>T | CA369378574 | ATP6V0A4 | c.1903C>A (p.His635Asn) c.1129C>A (p.His377Asn) c.796C>A (p.His266Asn) | |
7 | g.138732883T>A | CA369378576 | ATP6V0A4 | c.1902A>T (p.Lys634Asn) c.1128A>T (p.Lys376Asn) c.795A>T (p.Lys265Asn) | |
7 | g.138732883T>C | CA458150187 | ATP6V0A4 | c.1902A>G (p.Lys634=) c.1128A>G (p.Lys376=) c.795A>G (p.Lys265=) | |
7 | g.138732883T>G | CA369378575 | ATP6V0A4 | c.1902A>C (p.Lys634Asn) c.1128A>C (p.Lys376Asn) c.795A>C (p.Lys265Asn) | |
7 | g.138732884T>A | CA369378577 | ATP6V0A4 | c.1901A>T (p.Lys634Ile) c.1127A>T (p.Lys376Ile) c.794A>T (p.Lys265Ile) | |
7 | g.138732884T>C | CA369378578 | ATP6V0A4 | c.1901A>G (p.Lys634Arg) c.1127A>G (p.Lys376Arg) c.794A>G (p.Lys265Arg) | |
7 | g.138732884T>G | CA369378579 | ATP6V0A4 | c.1901A>C (p.Lys634Thr) c.1127A>C (p.Lys376Thr) c.794A>C (p.Lys265Thr) | |
7 | g.138732885T>A | CA369378580 | ATP6V0A4 | c.1900A>T (p.Lys634Ter) c.1126A>T (p.Lys376Ter) c.793A>T (p.Lys265Ter) | |
7 | g.138732885T>C | CA369378581 | ATP6V0A4 | c.1900A>G (p.Lys634Glu) c.1126A>G (p.Lys376Glu) c.793A>G (p.Lys265Glu) | |
7 | g.138732885T>G | CA369378582 | ATP6V0A4 | c.1900A>C (p.Lys634Gln) c.1126A>C (p.Lys376Gln) c.793A>C (p.Lys265Gln) | gnomAD v4 |
7 | g.138732886G>A | CA4504622 | ATP6V0A4 | c.1899C>T (p.Tyr633=) c.1125C>T (p.Tyr375=) c.792C>T (p.Tyr264=) | dbSNP ExAC gnomAD v4 |
7 | g.138732886G>C | CA369378583 | ATP6V0A4 | c.1899C>G (p.Tyr633Ter) c.1125C>G (p.Tyr375Ter) c.792C>G (p.Tyr264Ter) | |
7 | g.138732886G= | CA1746776821 | ATP6V0A4 | c.1899C= (p.Tyr633=) c.1125C= (p.Tyr375=) c.792C= (p.Tyr264=) | |
7 | g.138732886G>T | CA369378584 | ATP6V0A4 | c.1899C>A (p.Tyr633Ter) c.1125C>A (p.Tyr375Ter) c.792C>A (p.Tyr264Ter) | dbSNP |
7 | g.138732887T>A | CA369378585 | ATP6V0A4 | c.1898A>T (p.Tyr633Phe) c.1124A>T (p.Tyr375Phe) c.791A>T (p.Tyr264Phe) | |
7 | g.138732887T>C | CA369378586 | ATP6V0A4 | c.1898A>G (p.Tyr633Cys) c.1124A>G (p.Tyr375Cys) c.791A>G (p.Tyr264Cys) | gnomAD v4 COSMIC |
7 | g.138732887T>G | CA369378587 | ATP6V0A4 | c.1898A>C (p.Tyr633Ser) c.1124A>C (p.Tyr375Ser) c.791A>C (p.Tyr264Ser) | |
7 | g.138732888A= | CA1746776822 | ATP6V0A4 | c.1897T= (p.Tyr633=) c.1123T= (p.Tyr375=) c.790T= (p.Tyr264=) | |
7 | g.138732888A>C | CA369378589 | ATP6V0A4 | c.1897T>G (p.Tyr633Asp) c.1123T>G (p.Tyr375Asp) c.790T>G (p.Tyr264Asp) | |
7 | g.138732888A>G | CA369378590 | ATP6V0A4 | c.1897T>C (p.Tyr633His) c.1123T>C (p.Tyr375His) c.790T>C (p.Tyr264His) | dbSNP gnomAD v2 |
7 | g.138732888A>T | CA369378588 | ATP6V0A4 | c.1897T>A (p.Tyr633Asn) c.1123T>A (p.Tyr375Asn) c.790T>A (p.Tyr264Asn) | |
7 | g.138732889G>A | CA458150188 | ATP6V0A4 | c.1896C>T (p.Leu632=) c.1122C>T (p.Leu374=) c.789C>T (p.Leu263=) | |
7 | g.138732889G>C | CA458150190 | ATP6V0A4 | c.1896C>G (p.Leu632=) c.1122C>G (p.Leu374=) c.789C>G (p.Leu263=) | |
7 | g.138732889G>T | CA458150189 | ATP6V0A4 | c.1896C>A (p.Leu632=) c.1122C>A (p.Leu374=) c.789C>A (p.Leu263=) | |
7 | g.138732890A= | CA1746776823 | ATP6V0A4 | c.1895T= (p.Leu632=) c.1121T= (p.Leu374=) c.788T= (p.Leu263=) | |
7 | g.138732890A>C | CA4504624 | ATP6V0A4 | c.1895T>G (p.Leu632Arg) c.1121T>G (p.Leu374Arg) c.788T>G (p.Leu263Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732890A>G | CA4504623 | ATP6V0A4 | c.1895T>C (p.Leu632Pro) c.1121T>C (p.Leu374Pro) c.788T>C (p.Leu263Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138732890A>T | CA369378596 | ATP6V0A4 | c.1895T>A (p.Leu632His) c.1121T>A (p.Leu374His) c.788T>A (p.Leu263His) | |
7 | g.138732891G>A | CA4504625 | ATP6V0A4 | c.1894C>T (p.Leu632Phe) c.1120C>T (p.Leu374Phe) c.787C>T (p.Leu263Phe) | dbSNP ExAC gnomAD v2 |
7 | g.138732891G>C | CA369378598 | ATP6V0A4 | c.1894C>G (p.Leu632Val) c.1120C>G (p.Leu374Val) c.787C>G (p.Leu263Val) | |
7 | g.138732891G= | CA1746776824 | ATP6V0A4 | c.1894C= (p.Leu632=) c.1120C= (p.Leu374=) c.787C= (p.Leu263=) | |
7 | g.138732891G>T | CA369378599 | ATP6V0A4 | c.1894C>A (p.Leu632Ile) c.1120C>A (p.Leu374Ile) c.787C>A (p.Leu263Ile) | |
7 | g.138732894del | CA2579035691 | ATP6V0A4 | c.1894del (p.Leu632SerfsTer17) c.1120del (p.Leu374SerfsTer17) c.787del (p.Leu263SerfsTer17) | |
7 | g.138732892G>A | CA4504628 | ATP6V0A4 | c.1893C>T (p.Pro631=) c.1119C>T (p.Pro373=) c.786C>T (p.Pro262=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138732892G>C | CA4504627 | ATP6V0A4 | c.1893C>G (p.Pro631=) c.1119C>G (p.Pro373=) c.786C>G (p.Pro262=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138732892G= | CA1746776825 | ATP6V0A4 | c.1893C= (p.Pro631=) c.1119C= (p.Pro373=) c.786C= (p.Pro262=) | |
7 | g.138732892G>T | CA4504626 | ATP6V0A4 | c.1893C>A (p.Pro631=) c.1119C>A (p.Pro373=) c.786C>A (p.Pro262=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732893G>A | CA4504629 | ATP6V0A4 | c.1892C>T (p.Pro631Leu) c.1118C>T (p.Pro373Leu) c.785C>T (p.Pro262Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732893G>C | CA369378609 | ATP6V0A4 | c.1892C>G (p.Pro631Arg) c.1118C>G (p.Pro373Arg) c.785C>G (p.Pro262Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138732893G= | CA1746776826 | ATP6V0A4 | c.1892C= (p.Pro631=) c.1118C= (p.Pro373=) c.785C= (p.Pro262=) | |
7 | g.138732893G>T | CA369378611 | ATP6V0A4 | c.1892C>A (p.Pro631His) c.1118C>A (p.Pro373His) c.785C>A (p.Pro262His) | gnomAD v4 |
7 | g.138732894G>A | CA369378617 | ATP6V0A4 | c.1891C>T (p.Pro631Ser) c.1117C>T (p.Pro373Ser) c.784C>T (p.Pro262Ser) | dbSNP gnomAD v4 |
7 | g.138732894G>C | CA369378618 | ATP6V0A4 | c.1891C>G (p.Pro631Ala) c.1117C>G (p.Pro373Ala) c.784C>G (p.Pro262Ala) | gnomAD v4 |
7 | g.138732894G= | CA1746776827 | ATP6V0A4 | c.1891C= (p.Pro631=) c.1117C= (p.Pro373=) c.784C= (p.Pro262=) | |
7 | g.138732894G>T | CA369378615 | ATP6V0A4 | c.1891C>A (p.Pro631Thr) c.1117C>A (p.Pro373Thr) c.784C>A (p.Pro262Thr) | gnomAD v4 COSMIC |
7 | g.138732895T>A | CA458150191 | ATP6V0A4 | c.1890A>T (p.Ala630=) c.1116A>T (p.Ala372=) c.783A>T (p.Ala261=) | gnomAD v3 gnomAD v4 |
7 | g.138732895T>C | CA458150192 | ATP6V0A4 | c.1890A>G (p.Ala630=) c.1116A>G (p.Ala372=) c.783A>G (p.Ala261=) | |
7 | g.138732895T>G | CA458150193 | ATP6V0A4 | c.1890A>C (p.Ala630=) c.1116A>C (p.Ala372=) c.783A>C (p.Ala261=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.138732895T= | CA1746776828 | ATP6V0A4 | c.1890A= (p.Ala630=) c.1116A= (p.Ala372=) c.783A= (p.Ala261=) | |
7 | g.138732896G>A | CA369378621 | ATP6V0A4 | c.1889C>T (p.Ala630Val) c.1115C>T (p.Ala372Val) c.782C>T (p.Ala261Val) | gnomAD v4 |
7 | g.138732896G>C | CA369378626 | ATP6V0A4 | c.1889C>G (p.Ala630Gly) c.1115C>G (p.Ala372Gly) c.782C>G (p.Ala261Gly) | |
7 | g.138732896G>T | CA369378628 | ATP6V0A4 | c.1889C>A (p.Ala630Glu) c.1115C>A (p.Ala372Glu) c.782C>A (p.Ala261Glu) | |
7 | g.138732897C>A | CA369378636 | ATP6V0A4 | c.1888G>T (p.Ala630Ser) c.1114G>T (p.Ala372Ser) c.781G>T (p.Ala261Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138732897C= | CA1746776829 | ATP6V0A4 | c.1888G= (p.Ala630=) c.1114G= (p.Ala372=) c.781G= (p.Ala261=) | |
7 | g.138732897C>G | CA369378637 | ATP6V0A4 | c.1888G>C (p.Ala630Pro) c.1114G>C (p.Ala372Pro) c.781G>C (p.Ala261Pro) | |
7 | g.138732897C>T | CA4504630 | ATP6V0A4 | c.1888G>A (p.Ala630Thr) c.1114G>A (p.Ala372Thr) c.781G>A (p.Ala261Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732898G>A | CA4504631 | ATP6V0A4 | c.1887C>T (p.Asn629=) c.1113C>T (p.Asn371=) c.780C>T (p.Asn260=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732898G>C | CA369378648 | ATP6V0A4 | c.1887C>G (p.Asn629Lys) c.1113C>G (p.Asn371Lys) c.780C>G (p.Asn260Lys) | dbSNP gnomAD v2 |
7 | g.138732898G= | CA1746776830 | ATP6V0A4 | c.1887C= (p.Asn629=) c.1113C= (p.Asn371=) c.780C= (p.Asn260=) | |
7 | g.138732898G>T | CA369378649 | ATP6V0A4 | c.1887C>A (p.Asn629Lys) c.1113C>A (p.Asn371Lys) c.780C>A (p.Asn260Lys) | |
7 | g.138732899T>A | CA369378657 | ATP6V0A4 | c.1886A>T (p.Asn629Ile) c.1112A>T (p.Asn371Ile) c.779A>T (p.Asn260Ile) | |
7 | g.138732899T>C | CA369378658 | ATP6V0A4 | c.1886A>G (p.Asn629Ser) c.1112A>G (p.Asn371Ser) c.779A>G (p.Asn260Ser) | COSMIC |
7 | g.138732899T>G | CA369378661 | ATP6V0A4 | c.1886A>C (p.Asn629Thr) c.1112A>C (p.Asn371Thr) c.779A>C (p.Asn260Thr) | |
7 | g.138732900T>A | CA369378666 | ATP6V0A4 | c.1885A>T (p.Asn629Tyr) c.1111A>T (p.Asn371Tyr) c.778A>T (p.Asn260Tyr) | |
7 | g.138732900T>C | CA369378669 | ATP6V0A4 | c.1885A>G (p.Asn629Asp) c.1111A>G (p.Asn371Asp) c.778A>G (p.Asn260Asp) | |
7 | g.138732900T>G | CA369378686 | ATP6V0A4 | c.1885A>C (p.Asn629His) c.1111A>C (p.Asn371His) c.778A>C (p.Asn260His) | |
7 | g.138732901G>A | CA458150194 | ATP6V0A4 | c.1884C>T (p.Ser628=) c.1110C>T (p.Ser370=) c.777C>T (p.Ser259=) | |
7 | g.138732901G>C | CA458150195 | ATP6V0A4 | c.1884C>G (p.Ser628=) c.1110C>G (p.Ser370=) c.777C>G (p.Ser259=) | |
7 | g.138732901G= | CA1746776831 | ATP6V0A4 | c.1884C= (p.Ser628=) c.1110C= (p.Ser370=) c.777C= (p.Ser259=) | |
7 | g.138732901G>T | CA4504632 | ATP6V0A4 | c.1884C>A (p.Ser628=) c.1110C>A (p.Ser370=) c.777C>A (p.Ser259=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732902G>A | CA369378692 | ATP6V0A4 | c.1883C>T (p.Ser628Phe) c.1109C>T (p.Ser370Phe) c.776C>T (p.Ser259Phe) | |
7 | g.138732902G>C | CA369378690 | ATP6V0A4 | c.1883C>G (p.Ser628Cys) c.1109C>G (p.Ser370Cys) c.776C>G (p.Ser259Cys) | |
7 | g.138732902G>T | CA369378695 | ATP6V0A4 | c.1883C>A (p.Ser628Tyr) c.1109C>A (p.Ser370Tyr) c.776C>A (p.Ser259Tyr) | |
7 | g.138732903A>C | CA369378698 | ATP6V0A4 | c.1882T>G (p.Ser628Ala) c.1108T>G (p.Ser370Ala) c.775T>G (p.Ser259Ala) | |
7 | g.138732903A>G | CA369378702 | ATP6V0A4 | c.1882T>C (p.Ser628Pro) c.1108T>C (p.Ser370Pro) c.775T>C (p.Ser259Pro) | |
7 | g.138732903A>T | CA369378700 | ATP6V0A4 | c.1882T>A (p.Ser628Thr) c.1108T>A (p.Ser370Thr) c.775T>A (p.Ser259Thr) | |
7 | g.138732904A= | CA1746776832 | ATP6V0A4 | c.1881T= (p.Ser627=) c.1107T= (p.Ser369=) c.774T= (p.Ser258=) | |
7 | g.138732904A>C | CA458150196 | ATP6V0A4 | c.1881T>G (p.Ser627=) c.1107T>G (p.Ser369=) c.774T>G (p.Ser258=) | |
7 | g.138732904A>G | CA4504633 | ATP6V0A4 | c.1881T>C (p.Ser627=) c.1107T>C (p.Ser369=) c.774T>C (p.Ser258=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732904A>T | CA458150197 | ATP6V0A4 | c.1881T>A (p.Ser627=) c.1107T>A (p.Ser369=) c.774T>A (p.Ser258=) | |
7 | g.138732905G>A | CA4504634 | ATP6V0A4 | c.1880C>T (p.Ser627Phe) c.1106C>T (p.Ser369Phe) c.773C>T (p.Ser258Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138732905G>C | CA369378707 | ATP6V0A4 | c.1880C>G (p.Ser627Cys) c.1106C>G (p.Ser369Cys) c.773C>G (p.Ser258Cys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138732905G= | CA1746776833 | ATP6V0A4 | c.1880C= (p.Ser627=) c.1106C= (p.Ser369=) c.773C= (p.Ser258=) | |
7 | g.138732905G>T | CA369378709 | ATP6V0A4 | c.1880C>A (p.Ser627Tyr) c.1106C>A (p.Ser369Tyr) c.773C>A (p.Ser258Tyr) | |
7 | g.138732906A>C | CA369378713 | ATP6V0A4 | c.1879T>G (p.Ser627Ala) c.1105T>G (p.Ser369Ala) c.772T>G (p.Ser258Ala) | |
7 | g.138732906A>G | CA369378716 | ATP6V0A4 | c.1879T>C (p.Ser627Pro) c.1105T>C (p.Ser369Pro) c.772T>C (p.Ser258Pro) | |
7 | g.138732906A>T | CA369378718 | ATP6V0A4 | c.1879T>A (p.Ser627Thr) c.1105T>A (p.Ser369Thr) c.772T>A (p.Ser258Thr) | |
7 | g.138732907G>A | CA458150198 | ATP6V0A4 | c.1878C>T (p.Asp626=) c.1104C>T (p.Asp368=) c.771C>T (p.Asp257=) | |
7 | g.138732907G>C | CA369378722 | ATP6V0A4 | c.1878C>G (p.Asp626Glu) c.1104C>G (p.Asp368Glu) c.771C>G (p.Asp257Glu) | |
7 | g.138732907G>T | CA369378723 | ATP6V0A4 | c.1878C>A (p.Asp626Glu) c.1104C>A (p.Asp368Glu) c.771C>A (p.Asp257Glu) | |
7 | g.138732908T>A | CA369378726 | ATP6V0A4 | c.1877A>T (p.Asp626Val) c.1103A>T (p.Asp368Val) c.770A>T (p.Asp257Val) | |
7 | g.138732908T>C | CA369378736 | ATP6V0A4 | c.1877A>G (p.Asp626Gly) c.1103A>G (p.Asp368Gly) c.770A>G (p.Asp257Gly) | |
7 | g.138732908T>G | CA369378738 | ATP6V0A4 | c.1877A>C (p.Asp626Ala) c.1103A>C (p.Asp368Ala) c.770A>C (p.Asp257Ala) | |
7 | g.138732909C>A | CA167133037 | ATP6V0A4 | c.1876G>T (p.Asp626Tyr) c.1102G>T (p.Asp368Tyr) c.769G>T (p.Asp257Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732909C= | CA1746776834 | ATP6V0A4 | c.1876G= (p.Asp626=) c.1102G= (p.Asp368=) c.769G= (p.Asp257=) | |
7 | g.138732909C>G | CA369378740 | ATP6V0A4 | c.1876G>C (p.Asp626His) c.1102G>C (p.Asp368His) c.769G>C (p.Asp257His) | |
7 | g.138732909C>T | CA369378746 | ATP6V0A4 | c.1876G>A (p.Asp626Asn) c.1102G>A (p.Asp368Asn) c.769G>A (p.Asp257Asn) | |
7 | g.138732910A= | CA1746776835 | ATP6V0A4 | c.1875T= (p.Ser625=) c.1101T= (p.Ser367=) c.768T= (p.Ser256=) | |
7 | g.138732910A>C | CA369378752 | ATP6V0A4 | c.1875T>G (p.Ser625Arg) c.1101T>G (p.Ser367Arg) c.768T>G (p.Ser256Arg) | |
7 | g.138732910A>G | CA458150199 | ATP6V0A4 | c.1875T>C (p.Ser625=) c.1101T>C (p.Ser367=) c.768T>C (p.Ser256=) | dbSNP |
7 | g.138732910A>T | CA369378754 | ATP6V0A4 | c.1875T>A (p.Ser625Arg) c.1101T>A (p.Ser367Arg) c.768T>A (p.Ser256Arg) | |
7 | g.138732911C>A | CA369378755 | ATP6V0A4 | c.1874G>T (p.Ser625Ile) c.1100G>T (p.Ser367Ile) c.767G>T (p.Ser256Ile) | |
7 | g.138732911C>G | CA369378758 | ATP6V0A4 | c.1874G>C (p.Ser625Thr) c.1100G>C (p.Ser367Thr) c.767G>C (p.Ser256Thr) | |
7 | g.138732911C>T | CA369378759 | ATP6V0A4 | c.1874G>A (p.Ser625Asn) c.1100G>A (p.Ser367Asn) c.767G>A (p.Ser256Asn) | |
7 | g.138732912T>A | CA369378762 | ATP6V0A4 | c.1873A>T (p.Ser625Cys) c.1099A>T (p.Ser367Cys) c.766A>T (p.Ser256Cys) | |
7 | g.138732912T>C | CA369378763 | ATP6V0A4 | c.1873A>G (p.Ser625Gly) c.1099A>G (p.Ser367Gly) c.766A>G (p.Ser256Gly) | |
7 | g.138732912T>G | CA369378765 | ATP6V0A4 | c.1873A>C (p.Ser625Arg) c.1099A>C (p.Ser367Arg) c.766A>C (p.Ser256Arg) | gnomAD v4 |
7 | g.138732913G>A | CA458150200 | ATP6V0A4 | c.1872C>T (p.Tyr624=) c.1098C>T (p.Tyr366=) c.765C>T (p.Tyr255=) | dbSNP |
7 | g.138732913G>C | CA369378769 | ATP6V0A4 | c.1872C>G (p.Tyr624Ter) c.1098C>G (p.Tyr366Ter) c.765C>G (p.Tyr255Ter) | |
7 | g.138732913G= | CA1746776836 | ATP6V0A4 | c.1872C= (p.Tyr624=) c.1098C= (p.Tyr366=) c.765C= (p.Tyr255=) | |
7 | g.138732913G>T | CA369378771 | ATP6V0A4 | c.1872C>A (p.Tyr624Ter) c.1098C>A (p.Tyr366Ter) c.765C>A (p.Tyr255Ter) | ClinVar dbSNP |
7 | g.138732914T>A | CA369378775 | ATP6V0A4 | c.1871A>T (p.Tyr624Phe) c.1097A>T (p.Tyr366Phe) c.764A>T (p.Tyr255Phe) | |
7 | g.138732914T>C | CA369378774 | ATP6V0A4 | c.1871A>G (p.Tyr624Cys) c.1097A>G (p.Tyr366Cys) c.764A>G (p.Tyr255Cys) | |
7 | g.138732914T>G | CA369378773 | ATP6V0A4 | c.1871A>C (p.Tyr624Ser) c.1097A>C (p.Tyr366Ser) c.764A>C (p.Tyr255Ser) | |
7 | g.138732915A>C | CA369378779 | ATP6V0A4 | c.1870T>G (p.Tyr624Asp) c.1096T>G (p.Tyr366Asp) c.763T>G (p.Tyr255Asp) | |
7 | g.138732915A>G | CA369378780 | ATP6V0A4 | c.1870T>C (p.Tyr624His) c.1096T>C (p.Tyr366His) c.763T>C (p.Tyr255His) | |
7 | g.138732915A>T | CA369378781 | ATP6V0A4 | c.1870T>A (p.Tyr624Asn) c.1096T>A (p.Tyr366Asn) c.763T>A (p.Tyr255Asn) | |
7 | g.138732916G>A | CA458150201 | ATP6V0A4 | c.1869C>T (p.Asn623=) c.1095C>T (p.Asn365=) c.762C>T (p.Asn254=) | |
7 | g.138732916G>C | CA369378782 | ATP6V0A4 | c.1869C>G (p.Asn623Lys) c.1095C>G (p.Asn365Lys) c.762C>G (p.Asn254Lys) | |
7 | g.138732916G>T | CA369378783 | ATP6V0A4 | c.1869C>A (p.Asn623Lys) c.1095C>A (p.Asn365Lys) c.762C>A (p.Asn254Lys) | |
7 | g.138732917T>A | CA369378784 | ATP6V0A4 | c.1868A>T (p.Asn623Ile) c.1094A>T (p.Asn365Ile) c.761A>T (p.Asn254Ile) | |
7 | g.138732917T>C | CA369378785 | ATP6V0A4 | c.1868A>G (p.Asn623Ser) c.1094A>G (p.Asn365Ser) c.761A>G (p.Asn254Ser) | |
7 | g.138732917T>G | CA369378786 | ATP6V0A4 | c.1868A>C (p.Asn623Thr) c.1094A>C (p.Asn365Thr) c.761A>C (p.Asn254Thr) | |
7 | g.138732918T>A | CA369378787 | ATP6V0A4 | c.1867A>T (p.Asn623Tyr) c.1093A>T (p.Asn365Tyr) c.760A>T (p.Asn254Tyr) | |
7 | g.138732918T>C | CA369378788 | ATP6V0A4 | c.1867A>G (p.Asn623Asp) c.1093A>G (p.Asn365Asp) c.760A>G (p.Asn254Asp) | gnomAD v4 |
7 | g.138732918T>G | CA369378790 | ATP6V0A4 | c.1867A>C (p.Asn623His) c.1093A>C (p.Asn365His) c.760A>C (p.Asn254His) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138732918T= | CA1746776837 | ATP6V0A4 | c.1867A= (p.Asn623=) c.1093A= (p.Asn365=) c.760A= (p.Asn254=) | |
7 | g.138732919A>C | CA369378792 | ATP6V0A4 | c.1866T>G (p.Phe622Leu) c.1092T>G (p.Phe364Leu) c.759T>G (p.Phe253Leu) | |
7 | g.138732919A>G | CA458150202 | ATP6V0A4 | c.1866T>C (p.Phe622=) c.1092T>C (p.Phe364=) c.759T>C (p.Phe253=) | |
7 | g.138732919A>T | CA369378795 | ATP6V0A4 | c.1866T>A (p.Phe622Leu) c.1092T>A (p.Phe364Leu) c.759T>A (p.Phe253Leu) | |
7 | g.138732920A>C | CA369378804 | ATP6V0A4 | c.1865T>G (p.Phe622Cys) c.1091T>G (p.Phe364Cys) c.758T>G (p.Phe253Cys) | |
7 | g.138732920A>G | CA369378798 | ATP6V0A4 | c.1865T>C (p.Phe622Ser) c.1091T>C (p.Phe364Ser) c.758T>C (p.Phe253Ser) | |
7 | g.138732920A>T | CA369378800 | ATP6V0A4 | c.1865T>A (p.Phe622Tyr) c.1091T>A (p.Phe364Tyr) c.758T>A (p.Phe253Tyr) | gnomAD v4 |
7 | g.138732921A>C | CA369378806 | ATP6V0A4 | c.1864T>G (p.Phe622Val) c.1090T>G (p.Phe364Val) c.757T>G (p.Phe253Val) | |
7 | g.138732921A>G | CA369378807 | ATP6V0A4 | c.1864T>C (p.Phe622Leu) c.1090T>C (p.Phe364Leu) c.757T>C (p.Phe253Leu) | |
7 | g.138732921A>T | CA369378810 | ATP6V0A4 | c.1864T>A (p.Phe622Ile) c.1090T>A (p.Phe364Ile) c.757T>A (p.Phe253Ile) | gnomAD v4 |
7 | g.138732922C>A | CA458150203 | ATP6V0A4 | c.1863G>T (p.Leu621=) c.1089G>T (p.Leu363=) c.756G>T (p.Leu252=) | |
7 | g.138732922C>G | CA458150204 | ATP6V0A4 | c.1863G>C (p.Leu621=) c.1089G>C (p.Leu363=) c.756G>C (p.Leu252=) | |
7 | g.138732922C>T | CA458150205 | ATP6V0A4 | c.1863G>A (p.Leu621=) c.1089G>A (p.Leu363=) c.756G>A (p.Leu252=) | |
7 | g.138732923A>C | CA369378812 | ATP6V0A4 | c.1862T>G (p.Leu621Arg) c.1088T>G (p.Leu363Arg) c.755T>G (p.Leu252Arg) | |
7 | g.138732923A>G | CA369378814 | ATP6V0A4 | c.1862T>C (p.Leu621Pro) c.1088T>C (p.Leu363Pro) c.755T>C (p.Leu252Pro) | |
7 | g.138732923A>T | CA369378817 | ATP6V0A4 | c.1862T>A (p.Leu621Gln) c.1088T>A (p.Leu363Gln) c.755T>A (p.Leu252Gln) | |
7 | g.138732924G>A | CA4504635 | ATP6V0A4 | c.1861C>T (p.Leu621=) c.1087C>T (p.Leu363=) c.754C>T (p.Leu252=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138732924G>C | CA369378821 | ATP6V0A4 | c.1861C>G (p.Leu621Val) c.1087C>G (p.Leu363Val) c.754C>G (p.Leu252Val) | |
7 | g.138732924G= | CA1746776838 | ATP6V0A4 | c.1861C= (p.Leu621=) c.1087C= (p.Leu363=) c.754C= (p.Leu252=) | |
7 | g.138732924G>T | CA369378824 | ATP6V0A4 | c.1861C>A (p.Leu621Met) c.1087C>A (p.Leu363Met) c.754C>A (p.Leu252Met) | |
7 | g.138732925A>C | CA369378826 | ATP6V0A4 | c.1860T>G (p.Phe620Leu) c.1086T>G (p.Phe362Leu) c.753T>G (p.Phe251Leu) | |
7 | g.138732925A>G | CA458150206 | ATP6V0A4 | c.1860T>C (p.Phe620=) c.1086T>C (p.Phe362=) c.753T>C (p.Phe251=) | |
7 | g.138732925A>T | CA369378828 | ATP6V0A4 | c.1860T>A (p.Phe620Leu) c.1086T>A (p.Phe362Leu) c.753T>A (p.Phe251Leu) | |
7 | g.138732926A>C | CA369378841 | ATP6V0A4 | c.1859T>G (p.Phe620Cys) c.1085T>G (p.Phe362Cys) c.752T>G (p.Phe251Cys) | |
7 | g.138732926A>G | CA369378834 | ATP6V0A4 | c.1859T>C (p.Phe620Ser) c.1085T>C (p.Phe362Ser) c.752T>C (p.Phe251Ser) | |
7 | g.138732926A>T | CA369378831 | ATP6V0A4 | c.1859T>A (p.Phe620Tyr) c.1085T>A (p.Phe362Tyr) c.752T>A (p.Phe251Tyr) | |
7 | g.138732927A>C | CA369378844 | ATP6V0A4 | c.1858T>G (p.Phe620Val) c.1084T>G (p.Phe362Val) c.751T>G (p.Phe251Val) | gnomAD v4 |
7 | g.138732927A>G | CA369378849 | ATP6V0A4 | c.1858T>C (p.Phe620Leu) c.1084T>C (p.Phe362Leu) c.751T>C (p.Phe251Leu) | |
7 | g.138732927A>T | CA369378847 | ATP6V0A4 | c.1858T>A (p.Phe620Ile) c.1084T>A (p.Phe362Ile) c.751T>A (p.Phe251Ile) | |
7 | g.138732928C>A | CA369378853 | ATP6V0A4 | c.1857G>T (p.Met619Ile) c.1083G>T (p.Met361Ile) c.750G>T (p.Met250Ile) | |
7 | g.138732928C>G | CA369378855 | ATP6V0A4 | c.1857G>C (p.Met619Ile) c.1083G>C (p.Met361Ile) c.750G>C (p.Met250Ile) | |
7 | g.138732928C>T | CA369378857 | ATP6V0A4 | c.1857G>A (p.Met619Ile) c.1083G>A (p.Met361Ile) c.750G>A (p.Met250Ile) | ClinVar gnomAD v4 |
7 | g.138732929A= | CA1746776839 | ATP6V0A4 | c.1856T= (p.Met619=) c.1082T= (p.Met361=) c.749T= (p.Met250=) | |
7 | g.138732929A>C | CA369378860 | ATP6V0A4 | c.1856T>G (p.Met619Arg) c.1082T>G (p.Met361Arg) c.749T>G (p.Met250Arg) | |
7 | g.138732929A>G | CA4504636 | ATP6V0A4 | c.1856T>C (p.Met619Thr) c.1082T>C (p.Met361Thr) c.749T>C (p.Met250Thr) | dbSNP ExAC gnomAD v2 |
7 | g.138732929A>T | CA369378861 | ATP6V0A4 | c.1856T>A (p.Met619Lys) c.1082T>A (p.Met361Lys) c.749T>A (p.Met250Lys) | |
7 | g.138732930T>A | CA369378862 | ATP6V0A4 | c.1855A>T (p.Met619Leu) c.1081A>T (p.Met361Leu) c.748A>T (p.Met250Leu) | |
7 | g.138732930T>C | CA369378863 | ATP6V0A4 | c.1855A>G (p.Met619Val) c.1081A>G (p.Met361Val) c.748A>G (p.Met250Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732930T>G | CA369378864 | ATP6V0A4 | c.1855A>C (p.Met619Leu) c.1081A>C (p.Met361Leu) c.748A>C (p.Met250Leu) | |
7 | g.138732930T= | CA1746776840 | ATP6V0A4 | c.1855A= (p.Met619=) c.1081A= (p.Met361=) c.748A= (p.Met250=) | |
7 | g.138732931G>A | CA4504637 | ATP6V0A4 | c.1854C>T (p.Asn618=) c.1080C>T (p.Asn360=) c.747C>T (p.Asn249=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732931G>C | CA369378866 | ATP6V0A4 | c.1854C>G (p.Asn618Lys) c.1080C>G (p.Asn360Lys) c.747C>G (p.Asn249Lys) | |
7 | g.138732931G= | CA1746776841 | ATP6V0A4 | c.1854C= (p.Asn618=) c.1080C= (p.Asn360=) c.747C= (p.Asn249=) | |
7 | g.138732931G>T | CA369378870 | ATP6V0A4 | c.1854C>A (p.Asn618Lys) c.1080C>A (p.Asn360Lys) c.747C>A (p.Asn249Lys) | |
7 | g.138732932T>A | CA369378873 | ATP6V0A4 | c.1853A>T (p.Asn618Ile) c.1079A>T (p.Asn360Ile) c.746A>T (p.Asn249Ile) | |
7 | g.138732932T>C | CA369378878 | ATP6V0A4 | c.1853A>G (p.Asn618Ser) c.1079A>G (p.Asn360Ser) c.746A>G (p.Asn249Ser) | |
7 | g.138732932T>G | CA369378875 | ATP6V0A4 | c.1853A>C (p.Asn618Thr) c.1079A>C (p.Asn360Thr) c.746A>C (p.Asn249Thr) | gnomAD v4 |
7 | g.138732933T>A | CA369378881 | ATP6V0A4 | c.1852A>T (p.Asn618Tyr) c.1078A>T (p.Asn360Tyr) c.745A>T (p.Asn249Tyr) | |
7 | g.138732933T>C | CA369378883 | ATP6V0A4 | c.1852A>G (p.Asn618Asp) c.1078A>G (p.Asn360Asp) c.745A>G (p.Asn249Asp) | |
7 | g.138732933T>G | CA369378887 | ATP6V0A4 | c.1852A>C (p.Asn618His) c.1078A>C (p.Asn360His) c.745A>C (p.Asn249His) | |
7 | g.138732934G>A | CA458150207 | ATP6V0A4 | c.1851C>T (p.Ile617=) c.1077C>T (p.Ile359=) c.744C>T (p.Ile248=) | |
7 | g.138732934G>C | CA369378890 | ATP6V0A4 | c.1851C>G (p.Ile617Met) c.1077C>G (p.Ile359Met) c.744C>G (p.Ile248Met) | |
7 | g.138732934G>T | CA458150208 | ATP6V0A4 | c.1851C>A (p.Ile617=) c.1077C>A (p.Ile359=) c.744C>A (p.Ile248=) | |
7 | g.138732935A>C | CA369378894 | ATP6V0A4 | c.1850T>G (p.Ile617Ser) c.1076T>G (p.Ile359Ser) c.743T>G (p.Ile248Ser) | |
7 | g.138732935A>G | CA369378896 | ATP6V0A4 | c.1850T>C (p.Ile617Thr) c.1076T>C (p.Ile359Thr) c.743T>C (p.Ile248Thr) | |
7 | g.138732935A>T | CA369378897 | ATP6V0A4 | c.1850T>A (p.Ile617Asn) c.1076T>A (p.Ile359Asn) c.743T>A (p.Ile248Asn) | |
7 | g.138732936T>A | CA369378900 | ATP6V0A4 | c.1849A>T (p.Ile617Phe) c.1075A>T (p.Ile359Phe) c.742A>T (p.Ile248Phe) | |
7 | g.138732936T>C | CA4504638 | ATP6V0A4 | c.1849A>G (p.Ile617Val) c.1075A>G (p.Ile359Val) c.742A>G (p.Ile248Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138732936T>G | CA369378906 | ATP6V0A4 | c.1849A>C (p.Ile617Leu) c.1075A>C (p.Ile359Leu) c.742A>C (p.Ile248Leu) | |
7 | g.138732936T= | CA1746776842 | ATP6V0A4 | c.1849A= (p.Ile617=) c.1075A= (p.Ile359=) c.742A= (p.Ile248=) | |
7 | g.138732937G>A | CA4504639 | ATP6V0A4 | c.1848C>T (p.Phe616=) c.1074C>T (p.Phe358=) c.741C>T (p.Phe247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732937G>C | CA369378915 | ATP6V0A4 | c.1848C>G (p.Phe616Leu) c.1074C>G (p.Phe358Leu) c.741C>G (p.Phe247Leu) | |
7 | g.138732937G= | CA1746776843 | ATP6V0A4 | c.1848C= (p.Phe616=) c.1074C= (p.Phe358=) c.741C= (p.Phe247=) | |
7 | g.138732937G>T | CA369378912 | ATP6V0A4 | c.1848C>A (p.Phe616Leu) c.1074C>A (p.Phe358Leu) c.741C>A (p.Phe247Leu) | |
7 | g.138732938A>C | CA369378920 | ATP6V0A4 | c.1847T>G (p.Phe616Cys) c.1073T>G (p.Phe358Cys) c.740T>G (p.Phe247Cys) | |
7 | g.138732938A>G | CA369378921 | ATP6V0A4 | c.1847T>C (p.Phe616Ser) c.1073T>C (p.Phe358Ser) c.740T>C (p.Phe247Ser) | |
7 | g.138732938A>T | CA369378923 | ATP6V0A4 | c.1847T>A (p.Phe616Tyr) c.1073T>A (p.Phe358Tyr) c.740T>A (p.Phe247Tyr) | |
7 | g.138732939A>C | CA369378926 | ATP6V0A4 | c.1846T>G (p.Phe616Val) c.1072T>G (p.Phe358Val) c.739T>G (p.Phe247Val) | gnomAD v4 |
7 | g.138732939A>G | CA369378927 | ATP6V0A4 | c.1846T>C (p.Phe616Leu) c.1072T>C (p.Phe358Leu) c.739T>C (p.Phe247Leu) | gnomAD v4 |
7 | g.138732939A>T | CA369378930 | ATP6V0A4 | c.1846T>A (p.Phe616Ile) c.1072T>A (p.Phe358Ile) c.739T>A (p.Phe247Ile) | |
7 | g.138732940G>A | CA458150209 | ATP6V0A4 | c.1845C>T (p.His615=) c.1071C>T (p.His357=) c.738C>T (p.His246=) | |
7 | g.138732940G>C | CA369378933 | ATP6V0A4 | c.1845C>G (p.His615Gln) c.1071C>G (p.His357Gln) c.738C>G (p.His246Gln) | |
7 | g.138732940G>T | CA369378935 | ATP6V0A4 | c.1845C>A (p.His615Gln) c.1071C>A (p.His357Gln) c.738C>A (p.His246Gln) | |
7 | g.138732941T>A | CA369378938 | ATP6V0A4 | c.1844A>T (p.His615Leu) c.1070A>T (p.His357Leu) c.737A>T (p.His246Leu) | |
7 | g.138732941T>C | CA167133047 | ATP6V0A4 | c.1844A>G (p.His615Arg) c.1070A>G (p.His357Arg) c.737A>G (p.His246Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732941T>G | CA369378941 | ATP6V0A4 | c.1844A>C (p.His615Pro) c.1070A>C (p.His357Pro) c.737A>C (p.His246Pro) | COSMIC |
7 | g.138732941T= | CA1746776844 | ATP6V0A4 | c.1844A= (p.His615=) c.1070A= (p.His357=) c.737A= (p.His246=) | |
7 | g.138732942G>A | CA4504640 | ATP6V0A4 | c.1843C>T (p.His615Tyr) c.1069C>T (p.His357Tyr) c.736C>T (p.His246Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.138732942G>C | CA369378945 | ATP6V0A4 | c.1843C>G (p.His615Asp) c.1069C>G (p.His357Asp) c.736C>G (p.His246Asp) | |
7 | g.138732942G= | CA1746776845 | ATP6V0A4 | c.1843C= (p.His615=) c.1069C= (p.His357=) c.736C= (p.His246=) | |
7 | g.138732942G>T | CA369378947 | ATP6V0A4 | c.1843C>A (p.His615Asn) c.1069C>A (p.His357Asn) c.736C>A (p.His246Asn) | |
7 | g.138732943G>A | CA458150210 | ATP6V0A4 | c.1842C>T (p.Ile614=) c.1068C>T (p.Ile356=) c.735C>T (p.Ile245=) | |
7 | g.138732943G>C | CA369378949 | ATP6V0A4 | c.1842C>G (p.Ile614Met) c.1068C>G (p.Ile356Met) c.735C>G (p.Ile245Met) | |
7 | g.138732943G>T | CA458150211 | ATP6V0A4 | c.1842C>A (p.Ile614=) c.1068C>A (p.Ile356=) c.735C>A (p.Ile245=) | gnomAD v4 |
7 | g.138732944A>C | CA369378953 | ATP6V0A4 | c.1841T>G (p.Ile614Ser) c.1067T>G (p.Ile356Ser) c.734T>G (p.Ile245Ser) | |
7 | g.138732944A>G | CA369378955 | ATP6V0A4 | c.1841T>C (p.Ile614Thr) c.1067T>C (p.Ile356Thr) c.734T>C (p.Ile245Thr) | |
7 | g.138732944A>T | CA369378957 | ATP6V0A4 | c.1841T>A (p.Ile614Asn) c.1067T>A (p.Ile356Asn) c.734T>A (p.Ile245Asn) | |
7 | g.138732945T>A | CA369378959 | ATP6V0A4 | c.1840A>T (p.Ile614Phe) c.1066A>T (p.Ile356Phe) c.733A>T (p.Ile245Phe) | |
7 | g.138732945T>C | CA369378962 | ATP6V0A4 | c.1840A>G (p.Ile614Val) c.1066A>G (p.Ile356Val) c.733A>G (p.Ile245Val) | |
7 | g.138732945T>G | CA4504641 | ATP6V0A4 | c.1840A>C (p.Ile614Leu) c.1066A>C (p.Ile356Leu) c.733A>C (p.Ile245Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138732945T= | CA1746776846 | ATP6V0A4 | c.1840A= (p.Ile614=) c.1066A= (p.Ile356=) c.733A= (p.Ile245=) | |
7 | g.138732946G>A | CA4504642 | ATP6V0A4 | c.1839C>T (p.Leu613=) c.1065C>T (p.Leu355=) c.732C>T (p.Leu244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732946G>C | CA458150212 | ATP6V0A4 | c.1839C>G (p.Leu613=) c.1065C>G (p.Leu355=) c.732C>G (p.Leu244=) | |
7 | g.138732946G= | CA1746776847 | ATP6V0A4 | c.1839C= (p.Leu613=) c.1065C= (p.Leu355=) c.732C= (p.Leu244=) | |
7 | g.138732946G>T | CA458150213 | ATP6V0A4 | c.1839C>A (p.Leu613=) c.1065C>A (p.Leu355=) c.732C>A (p.Leu244=) | |
7 | g.138732947A>C | CA369378969 | ATP6V0A4 | c.1838T>G (p.Leu613Arg) c.1064T>G (p.Leu355Arg) c.731T>G (p.Leu244Arg) | |
7 | g.138732947A>G | CA369378971 | ATP6V0A4 | c.1838T>C (p.Leu613Pro) c.1064T>C (p.Leu355Pro) c.731T>C (p.Leu244Pro) | |
7 | g.138732947A>T | CA369378974 | ATP6V0A4 | c.1838T>A (p.Leu613His) c.1064T>A (p.Leu355His) c.731T>A (p.Leu244His) | |
7 | g.138732948G>A | CA369378977 | ATP6V0A4 | c.1837C>T (p.Leu613Phe) c.1063C>T (p.Leu355Phe) c.730C>T (p.Leu244Phe) | |
7 | g.138732948G>C | CA369378979 | ATP6V0A4 | c.1837C>G (p.Leu613Val) c.1063C>G (p.Leu355Val) c.730C>G (p.Leu244Val) | |
7 | g.138732948G>T | CA369378981 | ATP6V0A4 | c.1837C>A (p.Leu613Ile) c.1063C>A (p.Leu355Ile) c.730C>A (p.Leu244Ile) | |
7 | g.138732949G>A | CA458150214 | ATP6V0A4 | c.1836C>T (p.Ile612=) c.1062C>T (p.Ile354=) c.729C>T (p.Ile243=) | |
7 | g.138732949G>C | CA369378983 | ATP6V0A4 | c.1836C>G (p.Ile612Met) c.1062C>G (p.Ile354Met) c.729C>G (p.Ile243Met) | |
7 | g.138732949G>T | CA458150215 | ATP6V0A4 | c.1836C>A (p.Ile612=) c.1062C>A (p.Ile354=) c.729C>A (p.Ile243=) | |
7 | g.138732950A= | CA1746776848 | ATP6V0A4 | c.1835T= (p.Ile612=) c.1061T= (p.Ile354=) c.728T= (p.Ile243=) | |
7 | g.138732950A>C | CA369378987 | ATP6V0A4 | c.1835T>G (p.Ile612Ser) c.1061T>G (p.Ile354Ser) c.728T>G (p.Ile243Ser) | |
7 | g.138732950A>G | CA369378990 | ATP6V0A4 | c.1835T>C (p.Ile612Thr) c.1061T>C (p.Ile354Thr) c.728T>C (p.Ile243Thr) | |
7 | g.138732950A>T | CA369378986 | ATP6V0A4 | c.1835T>A (p.Ile612Asn) c.1061T>A (p.Ile354Asn) c.728T>A (p.Ile243Asn) | dbSNP gnomAD v2 gnomAD v4 |