Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41978109C= | CA2336724874 | ATP1A3 | c.1846-37G= (n.1846-37G=) c.1807-37G= (n.1807-37G=) c.1840-37G= (n.1840-37G=) c.1717-37G= (n.1717-37G=) | |
19 | g.41978109C>T | CA633185054 | ATP1A3 | c.1846-37G>A (n.1846-37G>A) c.1807-37G>A (n.1807-37G>A) c.1840-37G>A (n.1840-37G>A) c.1717-37G>A (n.1717-37G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978110C>T | CA2499584575 | ATP1A3 | c.1846-38G>A (n.1846-38G>A) c.1807-38G>A (n.1807-38G>A) c.1840-38G>A (n.1840-38G>A) c.1717-38G>A (n.1717-38G>A) | |
19 | g.41978111C>A | CA9467560 | ATP1A3 | c.1846-39G>T (n.1846-39G>T) c.1807-39G>T (n.1807-39G>T) c.1840-39G>T (n.1840-39G>T) c.1717-39G>T (n.1717-39G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41978111C= | CA2336724875 | ATP1A3 | c.1846-39G= (n.1846-39G=) c.1807-39G= (n.1807-39G=) c.1840-39G= (n.1840-39G=) c.1717-39G= (n.1717-39G=) | |
19 | g.41978111C>G | CA2336724876 | ATP1A3 | c.1846-39G>C (n.1846-39G>C) c.1807-39G>C (n.1807-39G>C) c.1840-39G>C (n.1840-39G>C) c.1717-39G>C (n.1717-39G>C) | dbSNP |
19 | g.41978113C>A | CA996022661 | ATP1A3 | c.1845+38G>T (n.1845+38G>T) c.1806+38G>T (n.1806+38G>T) c.1839+38G>T (n.1839+38G>T) c.1716+38G>T (n.1716+38G>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41978113C= | CA2336724877 | ATP1A3 | c.1845+38G= (n.1845+38G=) c.1806+38G= (n.1806+38G=) c.1839+38G= (n.1839+38G=) c.1716+38G= (n.1716+38G=) | |
19 | g.41978113C>T | CA9467561 | ATP1A3 | c.1845+38G>A (n.1845+38G>A) c.1806+38G>A (n.1806+38G>A) c.1839+38G>A (n.1839+38G>A) c.1716+38G>A (n.1716+38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978113_41978114insTGCTGGC | CA2502089397 | ATP1A3 | c.1845+38_1846-40insCCAGCAG (n.1845+38_1846-40insCCAGCAG) c.1806+38_1807-40insCCAGCAG (n.1806+38_1807-40insCCAGCAG) c.1839+38_1840-40insCCAGCAG (n.1839+38_1840-40insCCAGCAG) c.1716+38_1717-40insCCAGCAG (n.1716+38_1717-40insCCAGCAG) | |
19 | g.41978114G>A | CA9467562 | ATP1A3 | c.1845+37C>T (n.1845+37C>T) c.1806+37C>T (n.1806+37C>T) c.1839+37C>T (n.1839+37C>T) c.1716+37C>T (n.1716+37C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978114G>C | CA9467563 | ATP1A3 | c.1845+37C>G (n.1845+37C>G) c.1806+37C>G (n.1806+37C>G) c.1839+37C>G (n.1839+37C>G) c.1716+37C>G (n.1716+37C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978114G= | CA2336724878 | ATP1A3 | c.1845+37C= (n.1845+37C=) c.1806+37C= (n.1806+37C=) c.1839+37C= (n.1839+37C=) c.1716+37C= (n.1716+37C=) | |
19 | g.41978114G>T | CA633185055 | ATP1A3 | c.1845+37C>A (n.1845+37C>A) c.1806+37C>A (n.1806+37C>A) c.1839+37C>A (n.1839+37C>A) c.1716+37C>A (n.1716+37C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41978116C= | CA2336724879 | ATP1A3 | c.1845+35G= (n.1845+35G=) c.1806+35G= (n.1806+35G=) c.1839+35G= (n.1839+35G=) c.1716+35G= (n.1716+35G=) | |
19 | g.41978116C>G | CA633185056 | ATP1A3 | c.1845+35G>C (n.1845+35G>C) c.1806+35G>C (n.1806+35G>C) c.1839+35G>C (n.1839+35G>C) c.1716+35G>C (n.1716+35G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41978116C>T | CA2521487290 | ATP1A3 | c.1845+35G>A (n.1845+35G>A) c.1806+35G>A (n.1806+35G>A) c.1839+35G>A (n.1839+35G>A) c.1716+35G>A (n.1716+35G>A) | |
19 | g.41978119G>T | CA2585369519 | ATP1A3 | c.1845+32C>A (n.1845+32C>A) c.1806+32C>A (n.1806+32C>A) c.1839+32C>A (n.1839+32C>A) c.1716+32C>A (n.1716+32C>A) | gnomAD v4 |
19 | g.41978119_41978120insGGCC | CA2528967086 | ATP1A3 | c.1845+31_1845+32insGGCC (n.1845+31_1845+32insGGCC) c.1806+31_1806+32insGGCC (n.1806+31_1806+32insGGCC) c.1839+31_1839+32insGGCC (n.1839+31_1839+32insGGCC) c.1716+31_1716+32insGGCC (n.1716+31_1716+32insGGCC) | |
19 | g.41978122_41978123insCTGGTCC | CA2512950795 | ATP1A3 | c.1845+28_1845+29insGGACCAG (n.1845+28_1845+29insGGACCAG) c.1806+28_1806+29insGGACCAG (n.1806+28_1806+29insGGACCAG) c.1839+28_1839+29insGGACCAG (n.1839+28_1839+29insGGACCAG) c.1716+28_1716+29insGGACCAG (n.1716+28_1716+29insGGACCAG) | |
19 | g.41978124G>A | CA2814442099 | ATP1A3 | c.1845+27C>T (n.1845+27C>T) c.1806+27C>T (n.1806+27C>T) c.1839+27C>T (n.1839+27C>T) c.1716+27C>T (n.1716+27C>T) | |
19 | g.41978124G>C | CA2741632203 | ATP1A3 | c.1845+27C>G (n.1845+27C>G) c.1806+27C>G (n.1806+27C>G) c.1839+27C>G (n.1839+27C>G) c.1716+27C>G (n.1716+27C>G) | |
19 | g.41978126C>A | CA633185057 | ATP1A3 | c.1845+25G>T (n.1845+25G>T) c.1806+25G>T (n.1806+25G>T) c.1839+25G>T (n.1839+25G>T) c.1716+25G>T (n.1716+25G>T) | dbSNP gnomAD v2 |
19 | g.41978126C= | CA2336724880 | ATP1A3 | c.1845+25G= (n.1845+25G=) c.1806+25G= (n.1806+25G=) c.1839+25G= (n.1839+25G=) c.1716+25G= (n.1716+25G=) | |
19 | g.41978126C>G | CA2585369520 | ATP1A3 | c.1845+25G>C (n.1845+25G>C) c.1806+25G>C (n.1806+25G>C) c.1839+25G>C (n.1839+25G>C) c.1716+25G>C (n.1716+25G>C) | gnomAD v4 |
19 | g.41978126C>T | CA2585369521 | ATP1A3 | c.1845+25G>A (n.1845+25G>A) c.1806+25G>A (n.1806+25G>A) c.1839+25G>A (n.1839+25G>A) c.1716+25G>A (n.1716+25G>A) | gnomAD v4 |
19 | g.41978127T>C | CA9467564 | ATP1A3 | c.1845+24A>G (n.1845+24A>G) c.1806+24A>G (n.1806+24A>G) c.1839+24A>G (n.1839+24A>G) c.1716+24A>G (n.1716+24A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41978127T= | CA2336724881 | ATP1A3 | c.1845+24A= (n.1845+24A=) c.1806+24A= (n.1806+24A=) c.1839+24A= (n.1839+24A=) c.1716+24A= (n.1716+24A=) | |
19 | g.41978128C= | CA2336724882 | ATP1A3 | c.1845+23G= (n.1845+23G=) c.1806+23G= (n.1806+23G=) c.1839+23G= (n.1839+23G=) c.1716+23G= (n.1716+23G=) | |
19 | g.41978128C>T | CA882387291 | ATP1A3 | c.1845+23G>A (n.1845+23G>A) c.1806+23G>A (n.1806+23G>A) c.1839+23G>A (n.1839+23G>A) c.1716+23G>A (n.1716+23G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41978132dup | CA2832575072 | ATP1A3 | c.1845+23dup (n.1845+23dup) c.1806+23dup (n.1806+23dup) c.1839+23dup (n.1839+23dup) c.1716+23dup (n.1716+23dup) | |
19 | g.41978129C>G | CA2576797161 | ATP1A3 | c.1845+22G>C (n.1845+22G>C) c.1806+22G>C (n.1806+22G>C) c.1839+22G>C (n.1839+22G>C) c.1716+22G>C (n.1716+22G>C) | gnomAD v4 |
19 | g.41978129C>T | CA2585369522 | ATP1A3 | c.1845+22G>A (n.1845+22G>A) c.1806+22G>A (n.1806+22G>A) c.1839+22G>A (n.1839+22G>A) c.1716+22G>A (n.1716+22G>A) | gnomAD v4 |
19 | g.41978131_41978132insGG | CA2548135082 | ATP1A3 | c.1845+19_1845+20insCC (n.1845+19_1845+20insCC) c.1806+19_1806+20insCC (n.1806+19_1806+20insCC) c.1839+19_1839+20insCC (n.1839+19_1839+20insCC) c.1716+19_1716+20insCC (n.1716+19_1716+20insCC) | |
19 | g.41978132C>A | CA2585369523 | ATP1A3 | c.1845+19G>T (n.1845+19G>T) c.1806+19G>T (n.1806+19G>T) c.1839+19G>T (n.1839+19G>T) c.1716+19G>T (n.1716+19G>T) | gnomAD v4 |
19 | g.41978132C= | CA2336724883 | ATP1A3 | c.1845+19G= (n.1845+19G=) c.1806+19G= (n.1806+19G=) c.1839+19G= (n.1839+19G=) c.1716+19G= (n.1716+19G=) | |
19 | g.41978132C>G | CA2585369524 | ATP1A3 | c.1845+19G>C (n.1845+19G>C) c.1806+19G>C (n.1806+19G>C) c.1839+19G>C (n.1839+19G>C) c.1716+19G>C (n.1716+19G>C) | gnomAD v4 |
19 | g.41978132C>T | CA633185058 | ATP1A3 | c.1845+19G>A (n.1845+19G>A) c.1806+19G>A (n.1806+19G>A) c.1839+19G>A (n.1839+19G>A) c.1716+19G>A (n.1716+19G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41978133A= | CA2336724884 | ATP1A3 | c.1845+18T= (n.1845+18T=) c.1806+18T= (n.1806+18T=) c.1839+18T= (n.1839+18T=) c.1716+18T= (n.1716+18T=) | |
19 | g.41978133A>G | CA9467565 | ATP1A3 | c.1845+18T>C (n.1845+18T>C) c.1806+18T>C (n.1806+18T>C) c.1839+18T>C (n.1839+18T>C) c.1716+18T>C (n.1716+18T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41978134G>A | CA2585369525 | ATP1A3 | c.1845+17C>T (n.1845+17C>T) c.1806+17C>T (n.1806+17C>T) c.1839+17C>T (n.1839+17C>T) c.1716+17C>T (n.1716+17C>T) | gnomAD v4 |
19 | g.41978134G>C | CA2814442100 | ATP1A3 | c.1845+17C>G (n.1845+17C>G) c.1806+17C>G (n.1806+17C>G) c.1839+17C>G (n.1839+17C>G) c.1716+17C>G (n.1716+17C>G) | |
19 | g.41978135C>T | CA2814442101 | ATP1A3 | c.1845+16G>A (n.1845+16G>A) c.1806+16G>A (n.1806+16G>A) c.1839+16G>A (n.1839+16G>A) c.1716+16G>A (n.1716+16G>A) | |
19 | g.41978137A= | CA2336724885 | ATP1A3 | c.1845+14T= (n.1845+14T=) c.1806+14T= (n.1806+14T=) c.1839+14T= (n.1839+14T=) c.1716+14T= (n.1716+14T=) | |
19 | g.41978137A>C | CA9467566 | ATP1A3 | c.1845+14T>G (n.1845+14T>G) c.1806+14T>G (n.1806+14T>G) c.1839+14T>G (n.1839+14T>G) c.1716+14T>G (n.1716+14T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978137A>G | CA9467567 | ATP1A3 | c.1845+14T>C (n.1845+14T>C) c.1806+14T>C (n.1806+14T>C) c.1839+14T>C (n.1839+14T>C) c.1716+14T>C (n.1716+14T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978138C= | CA2336724886 | ATP1A3 | c.1845+13G= (n.1845+13G=) c.1806+13G= (n.1806+13G=) c.1839+13G= (n.1839+13G=) c.1716+13G= (n.1716+13G=) | |
19 | g.41978138C>T | CA633185059 | ATP1A3 | c.1845+13G>A (n.1845+13G>A) c.1806+13G>A (n.1806+13G>A) c.1839+13G>A (n.1839+13G>A) c.1716+13G>A (n.1716+13G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41978139C= | CA2336724887 | ATP1A3 | c.1845+12G= (n.1845+12G=) c.1806+12G= (n.1806+12G=) c.1839+12G= (n.1839+12G=) c.1716+12G= (n.1716+12G=) | |
19 | g.41978139C>G | CA633185060 | ATP1A3 | c.1845+12G>C (n.1845+12G>C) c.1806+12G>C (n.1806+12G>C) c.1839+12G>C (n.1839+12G>C) c.1716+12G>C (n.1716+12G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41978139C>T | CA633185061 | ATP1A3 | c.1845+12G>A (n.1845+12G>A) c.1806+12G>A (n.1806+12G>A) c.1839+12G>A (n.1839+12G>A) c.1716+12G>A (n.1716+12G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978140C= | CA2336724888 | ATP1A3 | c.1845+11G= (n.1845+11G=) c.1806+11G= (n.1806+11G=) c.1839+11G= (n.1839+11G=) c.1716+11G= (n.1716+11G=) | |
19 | g.41978140C>G | CA633185062 | ATP1A3 | c.1845+11G>C (n.1845+11G>C) c.1806+11G>C (n.1806+11G>C) c.1839+11G>C (n.1839+11G>C) c.1716+11G>C (n.1716+11G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978141C>A | CA633185063 | ATP1A3 | c.1845+10G>T (n.1845+10G>T) c.1806+10G>T (n.1806+10G>T) c.1839+10G>T (n.1839+10G>T) c.1716+10G>T (n.1716+10G>T) | dbSNP gnomAD v2 |
19 | g.41978141C= | CA2336724889 | ATP1A3 | c.1845+10G= (n.1845+10G=) c.1806+10G= (n.1806+10G=) c.1839+10G= (n.1839+10G=) c.1716+10G= (n.1716+10G=) | |
19 | g.41978141C>T | CA9467568 | ATP1A3 | c.1845+10G>A (n.1845+10G>A) c.1806+10G>A (n.1806+10G>A) c.1839+10G>A (n.1839+10G>A) c.1716+10G>A (n.1716+10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978144G>A | CA2585369526 | ATP1A3 | c.1845+7C>T (n.1845+7C>T) c.1806+7C>T (n.1806+7C>T) c.1839+7C>T (n.1839+7C>T) c.1716+7C>T (n.1716+7C>T) | gnomAD v4 |
19 | g.41978144G>C | CA633185064 | ATP1A3 | c.1845+7C>G (n.1845+7C>G) c.1806+7C>G (n.1806+7C>G) c.1839+7C>G (n.1839+7C>G) c.1716+7C>G (n.1716+7C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41978144G= | CA2336724890 | ATP1A3 | c.1845+7C= (n.1845+7C=) c.1806+7C= (n.1806+7C=) c.1839+7C= (n.1839+7C=) c.1716+7C= (n.1716+7C=) | |
19 | g.41978145_41978146insACACCCAA | CA2814442102 | ATP1A3 | c.1845+5_1845+6insTTGGGTGT (n.1845+5_1845+6insTTGGGTGT) c.1806+5_1806+6insTTGGGTGT (n.1806+5_1806+6insTTGGGTGT) c.1839+5_1839+6insTTGGGTGT (n.1839+5_1839+6insTTGGGTGT) c.1716+5_1716+6insTTGGGTGT (n.1716+5_1716+6insTTGGGTGT) | |
19 | g.41978147A>G | CA2576797162 | ATP1A3 | c.1845+4T>C (n.1845+4T>C) c.1806+4T>C (n.1806+4T>C) c.1839+4T>C (n.1839+4T>C) c.1716+4T>C (n.1716+4T>C) | gnomAD v4 |
19 | g.41978148C>T | CA2573156408 | ATP1A3 | c.1845+3G>A (n.1845+3G>A) c.1806+3G>A (n.1806+3G>A) c.1839+3G>A (n.1839+3G>A) c.1716+3G>A (n.1716+3G>A) | ClinVar dbSNP |
19 | g.41978149A= | CA2336724891 | ATP1A3 | c.1845+2T= (n.1845+2T=) c.1806+2T= (n.1806+2T=) c.1839+2T= (n.1839+2T=) c.1716+2T= (n.1716+2T=) | |
19 | g.41978149A>C | CA406045361 | ATP1A3 | c.1845+2T>G (n.1845+2T>G) c.1806+2T>G (n.1806+2T>G) c.1839+2T>G (n.1839+2T>G) c.1716+2T>G (n.1716+2T>G) | |
19 | g.41978149A>G | CA406045359 | ATP1A3 | c.1845+2T>C (n.1845+2T>C) c.1806+2T>C (n.1806+2T>C) c.1839+2T>C (n.1839+2T>C) c.1716+2T>C (n.1716+2T>C) | dbSNP |
19 | g.41978149A>T | CA406045357 | ATP1A3 | c.1845+2T>A (n.1845+2T>A) c.1806+2T>A (n.1806+2T>A) c.1839+2T>A (n.1839+2T>A) c.1716+2T>A (n.1716+2T>A) | |
19 | g.41978150C>A | CA406045365 | ATP1A3 | c.1845+1G>T (n.1845+1G>T) c.1806+1G>T (n.1806+1G>T) c.1839+1G>T (n.1839+1G>T) c.1716+1G>T (n.1716+1G>T) | |
19 | g.41978150C>G | CA406045364 | ATP1A3 | c.1845+1G>C (n.1845+1G>C) c.1806+1G>C (n.1806+1G>C) c.1839+1G>C (n.1839+1G>C) c.1716+1G>C (n.1716+1G>C) | |
19 | g.41978150C>T | CA406045367 | ATP1A3 | c.1845+1G>A (n.1845+1G>A) c.1806+1G>A (n.1806+1G>A) c.1839+1G>A (n.1839+1G>A) c.1716+1G>A (n.1716+1G>A) | COSMIC |
19 | g.41978151C>A | CA406045369 | ATP1A3 | c.1845G>T (p.Lys615Asn) c.1806G>T (p.Lys602Asn) c.1839G>T (p.Lys613Asn) c.1716G>T (p.Lys572Asn) | |
19 | g.41978151C>G | CA406045371 | ATP1A3 | c.1845G>C (p.Lys615Asn) c.1806G>C (p.Lys602Asn) c.1839G>C (p.Lys613Asn) c.1716G>C (p.Lys572Asn) | |
19 | g.41978151C>T | CA507586910 | ATP1A3 | c.1845G>A (p.Lys615=) c.1806G>A (p.Lys602=) c.1839G>A (p.Lys613=) c.1716G>A (p.Lys572=) | |
19 | g.41978152T>A | CA406045373 | ATP1A3 | c.1844A>T (p.Lys615Met) c.1805A>T (p.Lys602Met) c.1838A>T (p.Lys613Met) c.1715A>T (p.Lys572Met) | |
19 | g.41978152T>C | CA406045375 | ATP1A3 | c.1844A>G (p.Lys615Arg) c.1805A>G (p.Lys602Arg) c.1838A>G (p.Lys613Arg) c.1715A>G (p.Lys572Arg) | |
19 | g.41978152T>G | CA406045377 | ATP1A3 | c.1844A>C (p.Lys615Thr) c.1805A>C (p.Lys602Thr) c.1838A>C (p.Lys613Thr) c.1715A>C (p.Lys572Thr) | |
19 | g.41978153T>A | CA406045379 | ATP1A3 | c.1843A>T (p.Lys615Ter) c.1804A>T (p.Lys602Ter) c.1837A>T (p.Lys613Ter) c.1714A>T (p.Lys572Ter) | |
19 | g.41978153T>C | CA406045381 | ATP1A3 | c.1843A>G (p.Lys615Glu) c.1804A>G (p.Lys602Glu) c.1837A>G (p.Lys613Glu) c.1714A>G (p.Lys572Glu) | |
19 | g.41978153T>G | CA406045383 | ATP1A3 | c.1843A>C (p.Lys615Gln) c.1804A>C (p.Lys602Gln) c.1837A>C (p.Lys613Gln) c.1714A>C (p.Lys572Gln) | |
19 | g.41978154G>A | CA507586921 | ATP1A3 | c.1842C>T (p.Ile614=) c.1803C>T (p.Ile601=) c.1836C>T (p.Ile612=) c.1713C>T (p.Ile571=) | ClinVar gnomAD v4 |
19 | g.41978154G>C | CA406045385 | ATP1A3 | c.1842C>G (p.Ile614Met) c.1803C>G (p.Ile601Met) c.1836C>G (p.Ile612Met) c.1713C>G (p.Ile571Met) | |
19 | g.41978154G>T | CA507586923 | ATP1A3 | c.1842C>A (p.Ile614=) c.1803C>A (p.Ile601=) c.1836C>A (p.Ile612=) c.1713C>A (p.Ile571=) | |
19 | g.41978155A>C | CA406045388 | ATP1A3 | c.1841T>G (p.Ile614Ser) c.1802T>G (p.Ile601Ser) c.1835T>G (p.Ile612Ser) c.1712T>G (p.Ile571Ser) | |
19 | g.41978155A>G | CA406045389 | ATP1A3 | c.1841T>C (p.Ile614Thr) c.1802T>C (p.Ile601Thr) c.1835T>C (p.Ile612Thr) c.1712T>C (p.Ile571Thr) | |
19 | g.41978155A>T | CA406045390 | ATP1A3 | c.1841T>A (p.Ile614Asn) c.1802T>A (p.Ile601Asn) c.1835T>A (p.Ile612Asn) c.1712T>A (p.Ile571Asn) | |
19 | g.41978156T>A | CA406045392 | ATP1A3 | c.1840A>T (p.Ile614Phe) c.1801A>T (p.Ile601Phe) c.1834A>T (p.Ile612Phe) c.1711A>T (p.Ile571Phe) | ClinVar dbSNP |
19 | g.41978156T>C | CA406045394 | ATP1A3 | c.1840A>G (p.Ile614Val) c.1801A>G (p.Ile601Val) c.1834A>G (p.Ile612Val) c.1711A>G (p.Ile571Val) | |
19 | g.41978156T>G | CA406045396 | ATP1A3 | c.1840A>C (p.Ile614Leu) c.1801A>C (p.Ile601Leu) c.1834A>C (p.Ile612Leu) c.1711A>C (p.Ile571Leu) | gnomAD v4 |
19 | g.41978156T= | CA2336724892 | ATP1A3 | c.1840A= (p.Ile614=) c.1801A= (p.Ile601=) c.1834A= (p.Ile612=) c.1711A= (p.Ile571=) | |
19 | g.41978157G>A | CA507586939 | ATP1A3 | c.1839C>T (p.Gly613=) c.1800C>T (p.Gly600=) c.1833C>T (p.Gly611=) c.1710C>T (p.Gly570=) | gnomAD v4 |
19 | g.41978157G>C | CA507586941 | ATP1A3 | c.1839C>G (p.Gly613=) c.1800C>G (p.Gly600=) c.1833C>G (p.Gly611=) c.1710C>G (p.Gly570=) | |
19 | g.41978157G>T | CA507586943 | ATP1A3 | c.1839C>A (p.Gly613=) c.1800C>A (p.Gly600=) c.1833C>A (p.Gly611=) c.1710C>A (p.Gly570=) | |
19 | g.41978158C>A | CA406045398 | ATP1A3 | c.1838G>T (p.Gly613Val) c.1799G>T (p.Gly600Val) c.1832G>T (p.Gly611Val) c.1709G>T (p.Gly570Val) | |
19 | g.41978158C>G | CA406045401 | ATP1A3 | c.1838G>C (p.Gly613Ala) c.1799G>C (p.Gly600Ala) c.1832G>C (p.Gly611Ala) c.1709G>C (p.Gly570Ala) | |
19 | g.41978158C>T | CA406045400 | ATP1A3 | c.1838G>A (p.Gly613Asp) c.1799G>A (p.Gly600Asp) c.1832G>A (p.Gly611Asp) c.1709G>A (p.Gly570Asp) | COSMIC |
19 | g.41978159C>A | CA406045402 | ATP1A3 | c.1837G>T (p.Gly613Cys) c.1798G>T (p.Gly600Cys) c.1831G>T (p.Gly611Cys) c.1708G>T (p.Gly570Cys) | |
19 | g.41978159C>G | CA406045404 | ATP1A3 | c.1837G>C (p.Gly613Arg) c.1798G>C (p.Gly600Arg) c.1831G>C (p.Gly611Arg) c.1708G>C (p.Gly570Arg) | |
19 | g.41978159C>T | CA406045406 | ATP1A3 | c.1837G>A (p.Gly613Ser) c.1798G>A (p.Gly600Ser) c.1831G>A (p.Gly611Ser) c.1708G>A (p.Gly570Ser) | |
19 | g.41978160T>A | CA507586965 | ATP1A3 | c.1836A>T (p.Ala612=) c.1797A>T (p.Ala599=) c.1830A>T (p.Ala610=) c.1707A>T (p.Ala569=) | |
19 | g.41978160T>C | CA507586967 | ATP1A3 | c.1836A>G (p.Ala612=) c.1797A>G (p.Ala599=) c.1830A>G (p.Ala610=) c.1707A>G (p.Ala569=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41978160T>G | CA507586969 | ATP1A3 | c.1836A>C (p.Ala612=) c.1797A>C (p.Ala599=) c.1830A>C (p.Ala610=) c.1707A>C (p.Ala569=) | |
19 | g.41978161G>A | CA406045409 | ATP1A3 | c.1835C>T (p.Ala612Val) c.1796C>T (p.Ala599Val) c.1829C>T (p.Ala610Val) c.1706C>T (p.Ala569Val) | |
19 | g.41978161G>C | CA406045410 | ATP1A3 | c.1835C>G (p.Ala612Gly) c.1796C>G (p.Ala599Gly) c.1829C>G (p.Ala610Gly) c.1706C>G (p.Ala569Gly) | |
19 | g.41978161G>T | CA406045412 | ATP1A3 | c.1835C>A (p.Ala612Glu) c.1796C>A (p.Ala599Glu) c.1829C>A (p.Ala610Glu) c.1706C>A (p.Ala569Glu) | |
19 | g.41978162C>A | CA406045414 | ATP1A3 | c.1834G>T (p.Ala612Ser) c.1795G>T (p.Ala599Ser) c.1828G>T (p.Ala610Ser) c.1705G>T (p.Ala569Ser) | gnomAD v4 |
19 | g.41978162C= | CA2336724893 | ATP1A3 | c.1834G= (p.Ala612=) c.1795G= (p.Ala599=) c.1828G= (p.Ala610=) c.1705G= (p.Ala569=) | |
19 | g.41978162C>G | CA406045415 | ATP1A3 | c.1834G>C (p.Ala612Pro) c.1795G>C (p.Ala599Pro) c.1828G>C (p.Ala610Pro) c.1705G>C (p.Ala569Pro) | ClinVar |
19 | g.41978162C>T | CA16043749 | ATP1A3 | c.1834G>A (p.Ala612Thr) c.1795G>A (p.Ala599Thr) c.1828G>A (p.Ala610Thr) c.1705G>A (p.Ala569Thr) | ClinVar dbSNP gnomAD v4 |
19 | g.41978163G>A | CA9467569 | ATP1A3 | c.1833C>T (p.Ser611=) c.1794C>T (p.Ser598=) c.1827C>T (p.Ser609=) c.1704C>T (p.Ser568=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41978163G>C | CA406045418 | ATP1A3 | c.1833C>G (p.Ser611Arg) c.1794C>G (p.Ser598Arg) c.1827C>G (p.Ser609Arg) c.1704C>G (p.Ser568Arg) | |
19 | g.41978163G= | CA2336724894 | ATP1A3 | c.1833C= (p.Ser611=) c.1794C= (p.Ser598=) c.1827C= (p.Ser609=) c.1704C= (p.Ser568=) | |
19 | g.41978163G>T | CA406045420 | ATP1A3 | c.1833C>A (p.Ser611Arg) c.1794C>A (p.Ser598Arg) c.1827C>A (p.Ser609Arg) c.1704C>A (p.Ser568Arg) | |
19 | g.41978164C>A | CA406045427 | ATP1A3 | c.1832G>T (p.Ser611Ile) c.1793G>T (p.Ser598Ile) c.1826G>T (p.Ser609Ile) c.1703G>T (p.Ser568Ile) | |
19 | g.41978164C>G | CA406045423 | ATP1A3 | c.1832G>C (p.Ser611Thr) c.1793G>C (p.Ser598Thr) c.1826G>C (p.Ser609Thr) c.1703G>C (p.Ser568Thr) | |
19 | g.41978164C>T | CA406045424 | ATP1A3 | c.1832G>A (p.Ser611Asn) c.1793G>A (p.Ser598Asn) c.1826G>A (p.Ser609Asn) c.1703G>A (p.Ser568Asn) | |
19 | g.41978165T>A | CA406045429 | ATP1A3 | c.1831A>T (p.Ser611Cys) c.1792A>T (p.Ser598Cys) c.1825A>T (p.Ser609Cys) c.1702A>T (p.Ser568Cys) | |
19 | g.41978165T>C | CA406045431 | ATP1A3 | c.1831A>G (p.Ser611Gly) c.1792A>G (p.Ser598Gly) c.1825A>G (p.Ser609Gly) c.1702A>G (p.Ser568Gly) | |
19 | g.41978165T>G | CA406045433 | ATP1A3 | c.1831A>C (p.Ser611Arg) c.1792A>C (p.Ser598Arg) c.1825A>C (p.Ser609Arg) c.1702A>C (p.Ser568Arg) | |
19 | g.41978168_41978176del | CA2580097322 | ATP1A3 | c.1823_1831del (p.Lys608_Arg610del) c.1784_1792del (p.Lys595_Arg597del) c.1817_1825del (p.Lys606_Arg608del) c.1694_1702del (p.Lys565_Arg567del) | ClinVar |
19 | g.41978166G>A | CA507694898 | ATP1A3 | c.1830C>T (p.Arg610=) c.1791C>T (p.Arg597=) c.1824C>T (p.Arg608=) c.1701C>T (p.Arg567=) | |
19 | g.41978166G>C | CA507694899 | ATP1A3 | c.1830C>G (p.Arg610=) c.1791C>G (p.Arg597=) c.1824C>G (p.Arg608=) c.1701C>G (p.Arg567=) | |
19 | g.41978166G>T | CA507694900 | ATP1A3 | c.1830C>A (p.Arg610=) c.1791C>A (p.Arg597=) c.1824C>A (p.Arg608=) c.1701C>A (p.Arg567=) | |
19 | g.41978167C>A | CA406045435 | ATP1A3 | c.1829G>T (p.Arg610Leu) c.1790G>T (p.Arg597Leu) c.1823G>T (p.Arg608Leu) c.1700G>T (p.Arg567Leu) | |
19 | g.41978167C= | CA2336724895 | ATP1A3 | c.1829G= (p.Arg610=) c.1790G= (p.Arg597=) c.1823G= (p.Arg608=) c.1700G= (p.Arg567=) | |
19 | g.41978167C>G | CA406045437 | ATP1A3 | c.1829G>C (p.Arg610Pro) c.1790G>C (p.Arg597Pro) c.1823G>C (p.Arg608Pro) c.1700G>C (p.Arg567Pro) | |
19 | g.41978167C>T | CA406045439 | ATP1A3 | c.1829G>A (p.Arg610His) c.1790G>A (p.Arg597His) c.1823G>A (p.Arg608His) c.1700G>A (p.Arg567His) | ClinVar dbSNP gnomAD v4 |
19 | g.41978168G>A | CA406045444 | ATP1A3 | c.1828C>T (p.Arg610Cys) c.1789C>T (p.Arg597Cys) c.1822C>T (p.Arg608Cys) c.1699C>T (p.Arg567Cys) | ClinVar dbSNP |
19 | g.41978168G>C | CA406045442 | ATP1A3 | c.1828C>G (p.Arg610Gly) c.1789C>G (p.Arg597Gly) c.1822C>G (p.Arg608Gly) c.1699C>G (p.Arg567Gly) | |
19 | g.41978168G= | CA2336724896 | ATP1A3 | c.1828C= (p.Arg610=) c.1789C= (p.Arg597=) c.1822C= (p.Arg608=) c.1699C= (p.Arg567=) | |
19 | g.41978168G>T | CA406045443 | ATP1A3 | c.1828C>A (p.Arg610Ser) c.1789C>A (p.Arg597Ser) c.1822C>A (p.Arg608Ser) c.1699C>A (p.Arg567Ser) | |
19 | g.41978169A>C | CA406045447 | ATP1A3 | c.1827T>G (p.Cys609Trp) c.1788T>G (p.Cys596Trp) c.1821T>G (p.Cys607Trp) c.1698T>G (p.Cys566Trp) | |
19 | g.41978169A>G | CA507694905 | ATP1A3 | c.1827T>C (p.Cys609=) c.1788T>C (p.Cys596=) c.1821T>C (p.Cys607=) c.1698T>C (p.Cys566=) | |
19 | g.41978169A>T | CA406045449 | ATP1A3 | c.1827T>A (p.Cys609Ter) c.1788T>A (p.Cys596Ter) c.1821T>A (p.Cys607Ter) c.1698T>A (p.Cys566Ter) | |
19 | g.41978170C>A | CA406045451 | ATP1A3 | c.1826G>T (p.Cys609Phe) c.1787G>T (p.Cys596Phe) c.1820G>T (p.Cys607Phe) c.1697G>T (p.Cys566Phe) | |
19 | g.41978170C>G | CA406045453 | ATP1A3 | c.1826G>C (p.Cys609Ser) c.1787G>C (p.Cys596Ser) c.1820G>C (p.Cys607Ser) c.1697G>C (p.Cys566Ser) | |
19 | g.41978170C>T | CA406045455 | ATP1A3 | c.1826G>A (p.Cys609Tyr) c.1787G>A (p.Cys596Tyr) c.1820G>A (p.Cys607Tyr) c.1697G>A (p.Cys566Tyr) | |
19 | g.41978171A>C | CA406045457 | ATP1A3 | c.1825T>G (p.Cys609Gly) c.1786T>G (p.Cys596Gly) c.1819T>G (p.Cys607Gly) c.1696T>G (p.Cys566Gly) | |
19 | g.41978171A>G | CA406045461 | ATP1A3 | c.1825T>C (p.Cys609Arg) c.1786T>C (p.Cys596Arg) c.1819T>C (p.Cys607Arg) c.1696T>C (p.Cys566Arg) | |
19 | g.41978171A>T | CA406045460 | ATP1A3 | c.1825T>A (p.Cys609Ser) c.1786T>A (p.Cys596Ser) c.1819T>A (p.Cys607Ser) c.1696T>A (p.Cys566Ser) | gnomAD v4 |
19 | g.41978172C>A | CA406045463 | ATP1A3 | c.1824G>T (p.Lys608Asn) c.1785G>T (p.Lys595Asn) c.1818G>T (p.Lys606Asn) c.1695G>T (p.Lys565Asn) | |
19 | g.41978172C>G | CA406045465 | ATP1A3 | c.1824G>C (p.Lys608Asn) c.1785G>C (p.Lys595Asn) c.1818G>C (p.Lys606Asn) c.1695G>C (p.Lys565Asn) | |
19 | g.41978172C>T | CA507694907 | ATP1A3 | c.1824G>A (p.Lys608=) c.1785G>A (p.Lys595=) c.1818G>A (p.Lys606=) c.1695G>A (p.Lys565=) | gnomAD v4 |
19 | g.41978173T>A | CA406045468 | ATP1A3 | c.1823A>T (p.Lys608Met) c.1784A>T (p.Lys595Met) c.1817A>T (p.Lys606Met) c.1694A>T (p.Lys565Met) | |
19 | g.41978173T>C | CA406045469 | ATP1A3 | c.1823A>G (p.Lys608Arg) c.1784A>G (p.Lys595Arg) c.1817A>G (p.Lys606Arg) c.1694A>G (p.Lys565Arg) | |
19 | g.41978173T>G | CA406045470 | ATP1A3 | c.1823A>C (p.Lys608Thr) c.1784A>C (p.Lys595Thr) c.1817A>C (p.Lys606Thr) c.1694A>C (p.Lys565Thr) | |
19 | g.41978174T>A | CA406045473 | ATP1A3 | c.1822A>T (p.Lys608Ter) c.1783A>T (p.Lys595Ter) c.1816A>T (p.Lys606Ter) c.1693A>T (p.Lys565Ter) | |
19 | g.41978174T>C | CA406045475 | ATP1A3 | c.1822A>G (p.Lys608Glu) c.1783A>G (p.Lys595Glu) c.1816A>G (p.Lys606Glu) c.1693A>G (p.Lys565Glu) | |
19 | g.41978174T>G | CA406045477 | ATP1A3 | c.1822A>C (p.Lys608Gln) c.1783A>C (p.Lys595Gln) c.1816A>C (p.Lys606Gln) c.1693A>C (p.Lys565Gln) | |
19 | g.41978175G>A | CA507694908 | ATP1A3 | c.1821C>T (p.Gly607=) c.1782C>T (p.Gly594=) c.1815C>T (p.Gly605=) c.1692C>T (p.Gly564=) | |
19 | g.41978175G>C | CA507694910 | ATP1A3 | c.1821C>G (p.Gly607=) c.1782C>G (p.Gly594=) c.1815C>G (p.Gly605=) c.1692C>G (p.Gly564=) | gnomAD v4 |
19 | g.41978175G>T | CA507694909 | ATP1A3 | c.1821C>A (p.Gly607=) c.1782C>A (p.Gly594=) c.1815C>A (p.Gly605=) c.1692C>A (p.Gly564=) | |
19 | g.41978176C>A | CA406045480 | ATP1A3 | c.1820G>T (p.Gly607Val) c.1781G>T (p.Gly594Val) c.1814G>T (p.Gly605Val) c.1691G>T (p.Gly564Val) | |
19 | g.41978176C>G | CA406045481 | ATP1A3 | c.1820G>C (p.Gly607Ala) c.1781G>C (p.Gly594Ala) c.1814G>C (p.Gly605Ala) c.1691G>C (p.Gly564Ala) | ClinVar dbSNP |
19 | g.41978176C>T | CA406045483 | ATP1A3 | c.1820G>A (p.Gly607Asp) c.1781G>A (p.Gly594Asp) c.1814G>A (p.Gly605Asp) c.1691G>A (p.Gly564Asp) | |
19 | g.41978177C>A | CA406045485 | ATP1A3 | c.1819G>T (p.Gly607Cys) c.1780G>T (p.Gly594Cys) c.1813G>T (p.Gly605Cys) c.1690G>T (p.Gly564Cys) | |
19 | g.41978177C>G | CA406045489 | ATP1A3 | c.1819G>C (p.Gly607Arg) c.1780G>C (p.Gly594Arg) c.1813G>C (p.Gly605Arg) c.1690G>C (p.Gly564Arg) | |
19 | g.41978177C>T | CA406045487 | ATP1A3 | c.1819G>A (p.Gly607Ser) c.1780G>A (p.Gly594Ser) c.1813G>A (p.Gly605Ser) c.1690G>A (p.Gly564Ser) | |
19 | g.41978178C>A | CA507694914 | ATP1A3 | c.1818G>T (p.Val606=) c.1779G>T (p.Val593=) c.1812G>T (p.Val604=) c.1689G>T (p.Val563=) | |
19 | g.41978178C>G | CA507694915 | ATP1A3 | c.1818G>C (p.Val606=) c.1779G>C (p.Val593=) c.1812G>C (p.Val604=) c.1689G>C (p.Val563=) | |
19 | g.41978178C>T | CA507694916 | ATP1A3 | c.1818G>A (p.Val606=) c.1779G>A (p.Val593=) c.1812G>A (p.Val604=) c.1689G>A (p.Val563=) | gnomAD v4 |
19 | g.41978179A>C | CA406045491 | ATP1A3 | c.1817T>G (p.Val606Gly) c.1778T>G (p.Val593Gly) c.1811T>G (p.Val604Gly) c.1688T>G (p.Val563Gly) | |
19 | g.41978179A>G | CA406045496 | ATP1A3 | c.1817T>C (p.Val606Ala) c.1778T>C (p.Val593Ala) c.1811T>C (p.Val604Ala) c.1688T>C (p.Val563Ala) | |
19 | g.41978179A>T | CA406045493 | ATP1A3 | c.1817T>A (p.Val606Glu) c.1778T>A (p.Val593Glu) c.1811T>A (p.Val604Glu) c.1688T>A (p.Val563Glu) | |
19 | g.41978180C>A | CA406045498 | ATP1A3 | c.1816G>T (p.Val606Leu) c.1777G>T (p.Val593Leu) c.1810G>T (p.Val604Leu) c.1687G>T (p.Val563Leu) | |
19 | g.41978180C>G | CA406045500 | ATP1A3 | c.1816G>C (p.Val606Leu) c.1777G>C (p.Val593Leu) c.1810G>C (p.Val604Leu) c.1687G>C (p.Val563Leu) | |
19 | g.41978180C>T | CA406045502 | ATP1A3 | c.1816G>A (p.Val606Met) c.1777G>A (p.Val593Met) c.1810G>A (p.Val604Met) c.1687G>A (p.Val563Met) | |
19 | g.41978181C>A | CA507694920 | ATP1A3 | c.1815G>T (p.Ala605=) c.1776G>T (p.Ala592=) c.1809G>T (p.Ala603=) c.1686G>T (p.Ala562=) | |
19 | g.41978181C= | CA2336724897 | ATP1A3 | c.1815G= (p.Ala605=) c.1776G= (p.Ala592=) c.1809G= (p.Ala603=) c.1686G= (p.Ala562=) | |
19 | g.41978181C>G | CA507694922 | ATP1A3 | c.1815G>C (p.Ala605=) c.1776G>C (p.Ala592=) c.1809G>C (p.Ala603=) c.1686G>C (p.Ala562=) | |
19 | g.41978181C>T | CA9467570 | ATP1A3 | c.1815G>A (p.Ala605=) c.1776G>A (p.Ala592=) c.1809G>A (p.Ala603=) c.1686G>A (p.Ala562=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978182G>A | CA406045505 | ATP1A3 | c.1814C>T (p.Ala605Val) c.1775C>T (p.Ala592Val) c.1808C>T (p.Ala603Val) c.1685C>T (p.Ala562Val) | ClinVar dbSNP COSMIC |
19 | g.41978182G>C | CA406045507 | ATP1A3 | c.1814C>G (p.Ala605Gly) c.1775C>G (p.Ala592Gly) c.1808C>G (p.Ala603Gly) c.1685C>G (p.Ala562Gly) | |
19 | g.41978182G= | CA2336724898 | ATP1A3 | c.1814C= (p.Ala605=) c.1775C= (p.Ala592=) c.1808C= (p.Ala603=) c.1685C= (p.Ala562=) | |
19 | g.41978182G>T | CA406045509 | ATP1A3 | c.1814C>A (p.Ala605Glu) c.1775C>A (p.Ala592Glu) c.1808C>A (p.Ala603Glu) c.1685C>A (p.Ala562Glu) | ClinVar dbSNP |
19 | g.41978183C>A | CA406045511 | ATP1A3 | c.1813G>T (p.Ala605Ser) c.1774G>T (p.Ala592Ser) c.1807G>T (p.Ala603Ser) c.1684G>T (p.Ala562Ser) | |
19 | g.41978183C>G | CA406045512 | ATP1A3 | c.1813G>C (p.Ala605Pro) c.1774G>C (p.Ala592Pro) c.1807G>C (p.Ala603Pro) c.1684G>C (p.Ala562Pro) | |
19 | g.41978183C>T | CA406045515 | ATP1A3 | c.1813G>A (p.Ala605Thr) c.1774G>A (p.Ala592Thr) c.1807G>A (p.Ala603Thr) c.1684G>A (p.Ala562Thr) | gnomAD v4 |
19 | g.41978184G>A | CA9467571 | ATP1A3 | c.1812C>T (p.Asp604=) c.1773C>T (p.Asp591=) c.1806C>T (p.Asp602=) c.1683C>T (p.Asp561=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978184G>C | CA406045518 | ATP1A3 | c.1812C>G (p.Asp604Glu) c.1773C>G (p.Asp591Glu) c.1806C>G (p.Asp602Glu) c.1683C>G (p.Asp561Glu) | |
19 | g.41978184G= | CA2336724899 | ATP1A3 | c.1812C= (p.Asp604=) c.1773C= (p.Asp591=) c.1806C= (p.Asp602=) c.1683C= (p.Asp561=) | |
19 | g.41978184G>T | CA406045520 | ATP1A3 | c.1812C>A (p.Asp604Glu) c.1773C>A (p.Asp591Glu) c.1806C>A (p.Asp602Glu) c.1683C>A (p.Asp561Glu) | |
19 | g.41978185T>A | CA406045522 | ATP1A3 | c.1811A>T (p.Asp604Val) c.1772A>T (p.Asp591Val) c.1805A>T (p.Asp602Val) c.1682A>T (p.Asp561Val) | |
19 | g.41978185T>C | CA406045526 | ATP1A3 | c.1811A>G (p.Asp604Gly) c.1772A>G (p.Asp591Gly) c.1805A>G (p.Asp602Gly) c.1682A>G (p.Asp561Gly) | |
19 | g.41978185T>G | CA406045524 | ATP1A3 | c.1811A>C (p.Asp604Ala) c.1772A>C (p.Asp591Ala) c.1805A>C (p.Asp602Ala) c.1682A>C (p.Asp561Ala) | |
19 | g.41978186C>A | CA406045528 | ATP1A3 | c.1810G>T (p.Asp604Tyr) c.1771G>T (p.Asp591Tyr) c.1804G>T (p.Asp602Tyr) c.1681G>T (p.Asp561Tyr) | |
19 | g.41978186C>G | CA406045529 | ATP1A3 | c.1810G>C (p.Asp604His) c.1771G>C (p.Asp591His) c.1804G>C (p.Asp602His) c.1681G>C (p.Asp561His) | |
19 | g.41978186C>T | CA406045531 | ATP1A3 | c.1810G>A (p.Asp604Asn) c.1771G>A (p.Asp591Asn) c.1804G>A (p.Asp602Asn) c.1681G>A (p.Asp561Asn) | |
19 | g.41978187A>C | CA507694927 | ATP1A3 | c.1809T>G (p.Pro603=) c.1770T>G (p.Pro590=) c.1803T>G (p.Pro601=) c.1680T>G (p.Pro560=) | |
19 | g.41978187A>G | CA507694930 | ATP1A3 | c.1809T>C (p.Pro603=) c.1770T>C (p.Pro590=) c.1803T>C (p.Pro601=) c.1680T>C (p.Pro560=) | |
19 | g.41978187A>T | CA507694929 | ATP1A3 | c.1809T>A (p.Pro603=) c.1770T>A (p.Pro590=) c.1803T>A (p.Pro601=) c.1680T>A (p.Pro560=) | |
19 | g.41978188G>A | CA406045533 | ATP1A3 | c.1808C>T (p.Pro603Leu) c.1769C>T (p.Pro590Leu) c.1802C>T (p.Pro601Leu) c.1679C>T (p.Pro560Leu) | |
19 | g.41978188G>C | CA406045535 | ATP1A3 | c.1808C>G (p.Pro603Arg) c.1769C>G (p.Pro590Arg) c.1802C>G (p.Pro601Arg) c.1679C>G (p.Pro560Arg) | |
19 | g.41978188G>T | CA406045536 | ATP1A3 | c.1808C>A (p.Pro603His) c.1769C>A (p.Pro590His) c.1802C>A (p.Pro601His) c.1679C>A (p.Pro560His) | |
19 | g.41978189G>A | CA406045539 | ATP1A3 | c.1807C>T (p.Pro603Ser) c.1768C>T (p.Pro590Ser) c.1801C>T (p.Pro601Ser) c.1678C>T (p.Pro560Ser) | |
19 | g.41978189G>C | CA406045541 | ATP1A3 | c.1807C>G (p.Pro603Ala) c.1768C>G (p.Pro590Ala) c.1801C>G (p.Pro601Ala) c.1678C>G (p.Pro560Ala) | |
19 | g.41978189G>T | CA406045543 | ATP1A3 | c.1807C>A (p.Pro603Thr) c.1768C>A (p.Pro590Thr) c.1801C>A (p.Pro601Thr) c.1678C>A (p.Pro560Thr) | |
19 | g.41978190G>A | CA507694933 | ATP1A3 | c.1806C>T (p.Val602=) c.1767C>T (p.Val589=) c.1800C>T (p.Val600=) c.1677C>T (p.Val559=) | |
19 | g.41978190G>C | CA507694934 | ATP1A3 | c.1806C>G (p.Val602=) c.1767C>G (p.Val589=) c.1800C>G (p.Val600=) c.1677C>G (p.Val559=) | |
19 | g.41978190G= | CA2336724900 | ATP1A3 | c.1806C= (p.Val602=) c.1767C= (p.Val589=) c.1800C= (p.Val600=) c.1677C= (p.Val559=) | |
19 | g.41978190G>T | CA507694935 | ATP1A3 | c.1806C>A (p.Val602=) c.1767C>A (p.Val589=) c.1800C>A (p.Val600=) c.1677C>A (p.Val559=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41978191A>C | CA406045549 | ATP1A3 | c.1805T>G (p.Val602Gly) c.1766T>G (p.Val589Gly) c.1799T>G (p.Val600Gly) c.1676T>G (p.Val559Gly) | |
19 | g.41978191A>G | CA406045547 | ATP1A3 | c.1805T>C (p.Val602Ala) c.1766T>C (p.Val589Ala) c.1799T>C (p.Val600Ala) c.1676T>C (p.Val559Ala) | |
19 | g.41978191A>T | CA406045545 | ATP1A3 | c.1805T>A (p.Val602Asp) c.1766T>A (p.Val589Asp) c.1799T>A (p.Val600Asp) c.1676T>A (p.Val559Asp) | |
19 | g.41978192C>A | CA406045551 | ATP1A3 | c.1804G>T (p.Val602Phe) c.1765G>T (p.Val589Phe) c.1798G>T (p.Val600Phe) c.1675G>T (p.Val559Phe) | ClinVar dbSNP |
19 | g.41978192C= | CA2336724901 | ATP1A3 | c.1804G= (p.Val602=) c.1765G= (p.Val589=) c.1798G= (p.Val600=) c.1675G= (p.Val559=) | |
19 | g.41978192C>G | CA406045553 | ATP1A3 | c.1804G>C (p.Val602Leu) c.1765G>C (p.Val589Leu) c.1798G>C (p.Val600Leu) c.1675G>C (p.Val559Leu) | |
19 | g.41978192C>T | CA406045555 | ATP1A3 | c.1804G>A (p.Val602Ile) c.1765G>A (p.Val589Ile) c.1798G>A (p.Val600Ile) c.1675G>A (p.Val559Ile) | gnomAD v4 COSMIC |
19 | g.41978193G>A | CA9467572 | ATP1A3 | c.1803C>T (p.Ala601=) c.1764C>T (p.Ala588=) c.1797C>T (p.Ala599=) c.1674C>T (p.Ala558=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978193G>C | CA507694937 | ATP1A3 | c.1803C>G (p.Ala601=) c.1764C>G (p.Ala588=) c.1797C>G (p.Ala599=) c.1674C>G (p.Ala558=) | gnomAD v4 |
19 | g.41978193G= | CA2336724902 | ATP1A3 | c.1803C= (p.Ala601=) c.1764C= (p.Ala588=) c.1797C= (p.Ala599=) c.1674C= (p.Ala558=) | |
19 | g.41978193G>T | CA507694939 | ATP1A3 | c.1803C>A (p.Ala601=) c.1764C>A (p.Ala588=) c.1797C>A (p.Ala599=) c.1674C>A (p.Ala558=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978194G>A | CA406045558 | ATP1A3 | c.1802C>T (p.Ala601Val) c.1763C>T (p.Ala588Val) c.1796C>T (p.Ala599Val) c.1673C>T (p.Ala558Val) | dbSNP gnomAD v2 COSMIC |
19 | g.41978194G>C | CA406045560 | ATP1A3 | c.1802C>G (p.Ala601Gly) c.1763C>G (p.Ala588Gly) c.1796C>G (p.Ala599Gly) c.1673C>G (p.Ala558Gly) | |
19 | g.41978194G= | CA2336724903 | ATP1A3 | c.1802C= (p.Ala601=) c.1763C= (p.Ala588=) c.1796C= (p.Ala599=) c.1673C= (p.Ala558=) | |
19 | g.41978194G>T | CA406045562 | ATP1A3 | c.1802C>A (p.Ala601Asp) c.1763C>A (p.Ala588Asp) c.1796C>A (p.Ala599Asp) c.1673C>A (p.Ala558Asp) | |
19 | g.41978195C>A | CA406045565 | ATP1A3 | c.1801G>T (p.Ala601Ser) c.1762G>T (p.Ala588Ser) c.1795G>T (p.Ala599Ser) c.1672G>T (p.Ala558Ser) | |
19 | g.41978195C>G | CA406045566 | ATP1A3 | c.1801G>C (p.Ala601Pro) c.1762G>C (p.Ala588Pro) c.1795G>C (p.Ala599Pro) c.1672G>C (p.Ala558Pro) | |
19 | g.41978195C>T | CA406045568 | ATP1A3 | c.1801G>A (p.Ala601Thr) c.1762G>A (p.Ala588Thr) c.1795G>A (p.Ala599Thr) c.1672G>A (p.Ala558Thr) | |
19 | g.41978196T>A | CA507694945 | ATP1A3 | c.1800A>T (p.Ala600=) c.1761A>T (p.Ala587=) c.1794A>T (p.Ala598=) c.1671A>T (p.Ala557=) | |
19 | g.41978196T>C | CA507694943 | ATP1A3 | c.1800A>G (p.Ala600=) c.1761A>G (p.Ala587=) c.1794A>G (p.Ala598=) c.1671A>G (p.Ala557=) | dbSNP |
19 | g.41978196T>G | CA507694942 | ATP1A3 | c.1800A>C (p.Ala600=) c.1761A>C (p.Ala587=) c.1794A>C (p.Ala598=) c.1671A>C (p.Ala557=) | |
19 | g.41978196T= | CA2336724904 | ATP1A3 | c.1800A= (p.Ala600=) c.1761A= (p.Ala587=) c.1794A= (p.Ala598=) c.1671A= (p.Ala557=) | |
19 | g.41978197G>A | CA406045570 | ATP1A3 | c.1799C>T (p.Ala600Val) c.1760C>T (p.Ala587Val) c.1793C>T (p.Ala598Val) c.1670C>T (p.Ala557Val) | |
19 | g.41978197G>C | CA406045572 | ATP1A3 | c.1799C>G (p.Ala600Gly) c.1760C>G (p.Ala587Gly) c.1793C>G (p.Ala598Gly) c.1670C>G (p.Ala557Gly) | |
19 | g.41978197G>T | CA406045573 | ATP1A3 | c.1799C>A (p.Ala600Glu) c.1760C>A (p.Ala587Glu) c.1793C>A (p.Ala598Glu) c.1670C>A (p.Ala557Glu) | |
19 | g.41978198C>A | CA406045574 | ATP1A3 | c.1798G>T (p.Ala600Ser) c.1759G>T (p.Ala587Ser) c.1792G>T (p.Ala598Ser) c.1669G>T (p.Ala557Ser) | |
19 | g.41978198C>G | CA406045576 | ATP1A3 | c.1798G>C (p.Ala600Pro) c.1759G>C (p.Ala587Pro) c.1792G>C (p.Ala598Pro) c.1669G>C (p.Ala557Pro) | |
19 | g.41978198C>T | CA406045575 | ATP1A3 | c.1798G>A (p.Ala600Thr) c.1759G>A (p.Ala587Thr) c.1792G>A (p.Ala598Thr) c.1669G>A (p.Ala557Thr) | |
19 | g.41978199C>A | CA507694949 | ATP1A3 | c.1797G>T (p.Arg599=) c.1758G>T (p.Arg586=) c.1791G>T (p.Arg597=) c.1668G>T (p.Arg556=) | |
19 | g.41978199C= | CA2336724905 | ATP1A3 | c.1797G= (p.Arg599=) c.1758G= (p.Arg586=) c.1791G= (p.Arg597=) c.1668G= (p.Arg556=) | |
19 | g.41978199C>G | CA308591767 | ATP1A3 | c.1797G>C (p.Arg599=) c.1758G>C (p.Arg586=) c.1791G>C (p.Arg597=) c.1668G>C (p.Arg556=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41978199C>T | CA507694951 | ATP1A3 | c.1797G>A (p.Arg599=) c.1758G>A (p.Arg586=) c.1791G>A (p.Arg597=) c.1668G>A (p.Arg556=) | |
19 | g.41978200C>A | CA406045577 | ATP1A3 | c.1796G>T (p.Arg599Leu) c.1757G>T (p.Arg586Leu) c.1790G>T (p.Arg597Leu) c.1667G>T (p.Arg556Leu) | |
19 | g.41978200C= | CA2336724906 | ATP1A3 | c.1796G= (p.Arg599=) c.1757G= (p.Arg586=) c.1790G= (p.Arg597=) c.1667G= (p.Arg556=) | |
19 | g.41978200C>G | CA406045578 | ATP1A3 | c.1796G>C (p.Arg599Pro) c.1757G>C (p.Arg586Pro) c.1790G>C (p.Arg597Pro) c.1667G>C (p.Arg556Pro) | |
19 | g.41978200C>T | CA406045579 | ATP1A3 | c.1796G>A (p.Arg599Gln) c.1757G>A (p.Arg586Gln) c.1790G>A (p.Arg597Gln) c.1667G>A (p.Arg556Gln) | dbSNP |
19 | g.41978201G>A | CA406045580 | ATP1A3 | c.1795C>T (p.Arg599Trp) c.1756C>T (p.Arg586Trp) c.1789C>T (p.Arg597Trp) c.1666C>T (p.Arg556Trp) | ClinVar dbSNP gnomAD v2 |
19 | g.41978201G>C | CA406045581 | ATP1A3 | c.1795C>G (p.Arg599Gly) c.1756C>G (p.Arg586Gly) c.1789C>G (p.Arg597Gly) c.1666C>G (p.Arg556Gly) | |
19 | g.41978201G= | CA2336724907 | ATP1A3 | c.1795C= (p.Arg599=) c.1756C= (p.Arg586=) c.1789C= (p.Arg597=) c.1666C= (p.Arg556=) | |
19 | g.41978201G>T | CA507694954 | ATP1A3 | c.1795C>A (p.Arg599=) c.1756C>A (p.Arg586=) c.1789C>A (p.Arg597=) c.1666C>A (p.Arg556=) | dbSNP |
19 | g.41978202G>A | CA507694955 | ATP1A3 | c.1794C>T (p.Pro598=) c.1755C>T (p.Pro585=) c.1788C>T (p.Pro596=) c.1665C>T (p.Pro555=) | ClinVar |
19 | g.41978202G>C | CA507694956 | ATP1A3 | c.1794C>G (p.Pro598=) c.1755C>G (p.Pro585=) c.1788C>G (p.Pro596=) c.1665C>G (p.Pro555=) | ClinVar gnomAD v4 |
19 | g.41978202G>T | CA507694958 | ATP1A3 | c.1794C>A (p.Pro598=) c.1755C>A (p.Pro585=) c.1788C>A (p.Pro596=) c.1665C>A (p.Pro555=) | |
19 | g.41978203G>A | CA406045582 | ATP1A3 | c.1793C>T (p.Pro598Leu) c.1754C>T (p.Pro585Leu) c.1787C>T (p.Pro596Leu) c.1664C>T (p.Pro555Leu) | |
19 | g.41978203G>C | CA406045583 | ATP1A3 | c.1793C>G (p.Pro598Arg) c.1754C>G (p.Pro585Arg) c.1787C>G (p.Pro596Arg) c.1664C>G (p.Pro555Arg) | |
19 | g.41978203G>T | CA406045584 | ATP1A3 | c.1793C>A (p.Pro598His) c.1754C>A (p.Pro585His) c.1787C>A (p.Pro596His) c.1664C>A (p.Pro555His) | |
19 | g.41978204G>A | CA406045585 | ATP1A3 | c.1792C>T (p.Pro598Ser) c.1753C>T (p.Pro585Ser) c.1786C>T (p.Pro596Ser) c.1663C>T (p.Pro555Ser) | |
19 | g.41978204G>C | CA406045586 | ATP1A3 | c.1792C>G (p.Pro598Ala) c.1753C>G (p.Pro585Ala) c.1786C>G (p.Pro596Ala) c.1663C>G (p.Pro555Ala) | |
19 | g.41978204G>T | CA406045587 | ATP1A3 | c.1792C>A (p.Pro598Thr) c.1753C>A (p.Pro585Thr) c.1786C>A (p.Pro596Thr) c.1663C>A (p.Pro555Thr) | |
19 | g.41978205T>A | CA507694961 | ATP1A3 | c.1791A>T (p.Pro597=) c.1752A>T (p.Pro584=) c.1785A>T (p.Pro595=) c.1662A>T (p.Pro554=) | |
19 | g.41978205T>C | CA507694962 | ATP1A3 | c.1791A>G (p.Pro597=) c.1752A>G (p.Pro584=) c.1785A>G (p.Pro595=) c.1662A>G (p.Pro554=) | |
19 | g.41978205T>G | CA507694963 | ATP1A3 | c.1791A>C (p.Pro597=) c.1752A>C (p.Pro584=) c.1785A>C (p.Pro595=) c.1662A>C (p.Pro554=) | |
19 | g.41978206G>A | CA406045589 | ATP1A3 | c.1790C>T (p.Pro597Leu) c.1751C>T (p.Pro584Leu) c.1784C>T (p.Pro595Leu) c.1661C>T (p.Pro554Leu) | |
19 | g.41978206G>C | CA406045590 | ATP1A3 | c.1790C>G (p.Pro597Arg) c.1751C>G (p.Pro584Arg) c.1784C>G (p.Pro595Arg) c.1661C>G (p.Pro554Arg) | |
19 | g.41978206G>T | CA406045588 | ATP1A3 | c.1790C>A (p.Pro597Gln) c.1751C>A (p.Pro584Gln) c.1784C>A (p.Pro595Gln) c.1661C>A (p.Pro554Gln) | |
19 | g.41978207G>A | CA406045593 | ATP1A3 | c.1789C>T (p.Pro597Ser) c.1750C>T (p.Pro584Ser) c.1783C>T (p.Pro595Ser) c.1660C>T (p.Pro554Ser) | |
19 | g.41978207G>C | CA406045591 | ATP1A3 | c.1789C>G (p.Pro597Ala) c.1750C>G (p.Pro584Ala) c.1783C>G (p.Pro595Ala) c.1660C>G (p.Pro554Ala) | |
19 | g.41978207G>T | CA406045592 | ATP1A3 | c.1789C>A (p.Pro597Thr) c.1750C>A (p.Pro584Thr) c.1783C>A (p.Pro595Thr) c.1660C>A (p.Pro554Thr) | |
19 | g.41978208G>A | CA507694964 | ATP1A3 | c.1788C>T (p.Asp596=) c.1749C>T (p.Asp583=) c.1782C>T (p.Asp594=) c.1659C>T (p.Asp553=) | |
19 | g.41978208G>C | CA406045594 | ATP1A3 | c.1788C>G (p.Asp596Glu) c.1749C>G (p.Asp583Glu) c.1782C>G (p.Asp594Glu) c.1659C>G (p.Asp553Glu) | |
19 | g.41978208G>T | CA406045595 | ATP1A3 | c.1788C>A (p.Asp596Glu) c.1749C>A (p.Asp583Glu) c.1782C>A (p.Asp594Glu) c.1659C>A (p.Asp553Glu) |