Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41970125C>TCA2585368908ATP1A3c.2581+60G>A (n.2581+60G>A)
c.2542+60G>A (n.2542+60G>A)
c.2575+60G>A (n.2575+60G>A)
c.2452+60G>A (n.2452+60G>A)
 gnomAD v4
19g.41970126C=CA2336721023ATP1A3c.2581+59G= (n.2581+59G=)
c.2542+59G= (n.2542+59G=)
c.2575+59G= (n.2575+59G=)
c.2452+59G= (n.2452+59G=)
19g.41970126C>GCA308586266ATP1A3c.2581+59G>C (n.2581+59G>C)
c.2542+59G>C (n.2542+59G>C)
c.2575+59G>C (n.2575+59G>C)
c.2452+59G>C (n.2452+59G>C)
 dbSNP gnomAD v3 gnomAD v4
19g.41970128G>ACA2585368910ATP1A3c.2581+57C>T (n.2581+57C>T)
c.2542+57C>T (n.2542+57C>T)
c.2575+57C>T (n.2575+57C>T)
c.2452+57C>T (n.2452+57C>T)
 gnomAD v4
19g.41970128G>CCA2585368911ATP1A3c.2581+57C>G (n.2581+57C>G)
c.2542+57C>G (n.2542+57C>G)
c.2575+57C>G (n.2575+57C>G)
c.2452+57C>G (n.2452+57C>G)
 gnomAD v4
19g.41970135_41970151dupCA2585368909ATP1A3c.2581+41_2581+57dup (n.2581+41_2581+57dup)
c.2542+41_2542+57dup (n.2542+41_2542+57dup)
c.2575+41_2575+57dup (n.2575+41_2575+57dup)
c.2452+41_2452+57dup (n.2452+41_2452+57dup)
 gnomAD v4
19g.41970129G>ACA2336721026ATP1A3c.2581+56C>T (n.2581+56C>T)
c.2542+56C>T (n.2542+56C>T)
c.2575+56C>T (n.2575+56C>T)
c.2452+56C>T (n.2452+56C>T)
 dbSNP
19g.41970129G=CA2336721025ATP1A3c.2581+56C= (n.2581+56C=)
c.2542+56C= (n.2542+56C=)
c.2575+56C= (n.2575+56C=)
c.2452+56C= (n.2452+56C=)
19g.41970129G>TCA2576797073ATP1A3c.2581+56C>A (n.2581+56C>A)
c.2542+56C>A (n.2542+56C>A)
c.2575+56C>A (n.2575+56C>A)
c.2452+56C>A (n.2452+56C>A)
19g.41970130C>ACA2585368912ATP1A3c.2581+55G>T (n.2581+55G>T)
c.2542+55G>T (n.2542+55G>T)
c.2575+55G>T (n.2575+55G>T)
c.2452+55G>T (n.2452+55G>T)
 gnomAD v4
19g.41970130C=CA2336721027ATP1A3c.2581+55G= (n.2581+55G=)
c.2542+55G= (n.2542+55G=)
c.2575+55G= (n.2575+55G=)
c.2452+55G= (n.2452+55G=)
19g.41970130C>TCA308586270ATP1A3c.2581+55G>A (n.2581+55G>A)
c.2542+55G>A (n.2542+55G>A)
c.2575+55G>A (n.2575+55G>A)
c.2452+55G>A (n.2452+55G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41970132C>ACA308586275ATP1A3c.2581+53G>T (n.2581+53G>T)
c.2542+53G>T (n.2542+53G>T)
c.2575+53G>T (n.2575+53G>T)
c.2452+53G>T (n.2452+53G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41970132C=CA2336721028ATP1A3c.2581+53G= (n.2581+53G=)
c.2542+53G= (n.2542+53G=)
c.2575+53G= (n.2575+53G=)
c.2452+53G= (n.2452+53G=)
19g.41970132C>GCA2585368913ATP1A3c.2581+53G>C (n.2581+53G>C)
c.2542+53G>C (n.2542+53G>C)
c.2575+53G>C (n.2575+53G>C)
c.2452+53G>C (n.2452+53G>C)
 gnomAD v4
19g.41970134G>ACA9467352ATP1A3c.2581+51C>T (n.2581+51C>T)
c.2542+51C>T (n.2542+51C>T)
c.2575+51C>T (n.2575+51C>T)
c.2452+51C>T (n.2452+51C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970134G>CCA633471462ATP1A3c.2581+51C>G (n.2581+51C>G)
c.2542+51C>G (n.2542+51C>G)
c.2575+51C>G (n.2575+51C>G)
c.2452+51C>G (n.2452+51C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41970134G=CA2336721030ATP1A3c.2581+51C= (n.2581+51C=)
c.2542+51C= (n.2542+51C=)
c.2575+51C= (n.2575+51C=)
c.2452+51C= (n.2452+51C=)
19g.41970135C=CA2336721031ATP1A3c.2581+50G= (n.2581+50G=)
c.2542+50G= (n.2542+50G=)
c.2575+50G= (n.2575+50G=)
c.2452+50G= (n.2452+50G=)
19g.41970135C>TCA308586291ATP1A3c.2581+50G>A (n.2581+50G>A)
c.2542+50G>A (n.2542+50G>A)
c.2575+50G>A (n.2575+50G>A)
c.2452+50G>A (n.2452+50G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.41970137C=CA2336721033ATP1A3c.2581+48G= (n.2581+48G=)
c.2542+48G= (n.2542+48G=)
c.2575+48G= (n.2575+48G=)
c.2452+48G= (n.2452+48G=)
19g.41970137C>TCA9467353ATP1A3c.2581+48G>A (n.2581+48G>A)
c.2542+48G>A (n.2542+48G>A)
c.2575+48G>A (n.2575+48G>A)
c.2452+48G>A (n.2452+48G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970139A=CA2336721034ATP1A3c.2581+46T= (n.2581+46T=)
c.2542+46T= (n.2542+46T=)
c.2575+46T= (n.2575+46T=)
c.2452+46T= (n.2452+46T=)
19g.41970139A>GCA633471463ATP1A3c.2581+46T>C (n.2581+46T>C)
c.2542+46T>C (n.2542+46T>C)
c.2575+46T>C (n.2575+46T>C)
c.2452+46T>C (n.2452+46T>C)
 dbSNP gnomAD v2 gnomAD v4
19g.41970140G>ACA9467354ATP1A3c.2581+45C>T (n.2581+45C>T)
c.2542+45C>T (n.2542+45C>T)
c.2575+45C>T (n.2575+45C>T)
c.2452+45C>T (n.2452+45C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41970140G>CCA2585368914ATP1A3c.2581+45C>G (n.2581+45C>G)
c.2542+45C>G (n.2542+45C>G)
c.2575+45C>G (n.2575+45C>G)
c.2452+45C>G (n.2452+45C>G)
 gnomAD v4
19g.41970140G=CA2336721035ATP1A3c.2581+45C= (n.2581+45C=)
c.2542+45C= (n.2542+45C=)
c.2575+45C= (n.2575+45C=)
c.2452+45C= (n.2452+45C=)
19g.41970141G>ACA633471464ATP1A3c.2581+44C>T (n.2581+44C>T)
c.2542+44C>T (n.2542+44C>T)
c.2575+44C>T (n.2575+44C>T)
c.2452+44C>T (n.2452+44C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41970141G=CA2336721037ATP1A3c.2581+44C= (n.2581+44C=)
c.2542+44C= (n.2542+44C=)
c.2575+44C= (n.2575+44C=)
c.2452+44C= (n.2452+44C=)
19g.41970142C>ACA9467355ATP1A3c.2581+43G>T (n.2581+43G>T)
c.2542+43G>T (n.2542+43G>T)
c.2575+43G>T (n.2575+43G>T)
c.2452+43G>T (n.2452+43G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970142C=CA2336721038ATP1A3c.2581+43G= (n.2581+43G=)
c.2542+43G= (n.2542+43G=)
c.2575+43G= (n.2575+43G=)
c.2452+43G= (n.2452+43G=)
19g.41970144C=CA2336721039ATP1A3c.2581+41G= (n.2581+41G=)
c.2542+41G= (n.2542+41G=)
c.2575+41G= (n.2575+41G=)
c.2452+41G= (n.2452+41G=)
19g.41970144C>GCA2336721040ATP1A3c.2581+41G>C (n.2581+41G>C)
c.2542+41G>C (n.2542+41G>C)
c.2575+41G>C (n.2575+41G>C)
c.2452+41G>C (n.2452+41G>C)
 dbSNP
19g.41970144C>TCA9467356ATP1A3c.2581+41G>A (n.2581+41G>A)
c.2542+41G>A (n.2542+41G>A)
c.2575+41G>A (n.2575+41G>A)
c.2452+41G>A (n.2452+41G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970144_41970164delCA2576797074ATP1A3c.2581+21_2581+41del (n.2581+21_2581+41del)
c.2542+21_2542+41del (n.2542+21_2542+41del)
c.2575+21_2575+41del (n.2575+21_2575+41del)
c.2452+21_2452+41del (n.2452+21_2452+41del)
19g.41970145G>ACA9467357ATP1A3c.2581+40C>T (n.2581+40C>T)
c.2542+40C>T (n.2542+40C>T)
c.2575+40C>T (n.2575+40C>T)
c.2452+40C>T (n.2452+40C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970145G>CCA2336721043ATP1A3c.2581+40C>G (n.2581+40C>G)
c.2542+40C>G (n.2542+40C>G)
c.2575+40C>G (n.2575+40C>G)
c.2452+40C>G (n.2452+40C>G)
 dbSNP
19g.41970145G=CA2336721042ATP1A3c.2581+40C= (n.2581+40C=)
c.2542+40C= (n.2542+40C=)
c.2575+40C= (n.2575+40C=)
c.2452+40C= (n.2452+40C=)
19g.41970149C>ACA633471465ATP1A3c.2581+36G>T (n.2581+36G>T)
c.2542+36G>T (n.2542+36G>T)
c.2575+36G>T (n.2575+36G>T)
c.2452+36G>T (n.2452+36G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41970149C=CA2336721044ATP1A3c.2581+36G= (n.2581+36G=)
c.2542+36G= (n.2542+36G=)
c.2575+36G= (n.2575+36G=)
c.2452+36G= (n.2452+36G=)
19g.41970150T>GCA2585368915ATP1A3c.2581+35A>C (n.2581+35A>C)
c.2542+35A>C (n.2542+35A>C)
c.2575+35A>C (n.2575+35A>C)
c.2452+35A>C (n.2452+35A>C)
 gnomAD v4
19g.41970151G>CCA2336721047ATP1A3c.2581+34C>G (n.2581+34C>G)
c.2542+34C>G (n.2542+34C>G)
c.2575+34C>G (n.2575+34C>G)
c.2452+34C>G (n.2452+34C>G)
 dbSNP gnomAD v3 gnomAD v4
19g.41970151G=CA2336721046ATP1A3c.2581+34C= (n.2581+34C=)
c.2542+34C= (n.2542+34C=)
c.2575+34C= (n.2575+34C=)
c.2452+34C= (n.2452+34C=)
19g.41970153delCA657436785ATP1A3c.2581+34del (n.2581+34del)
c.2542+34del (n.2542+34del)
c.2575+34del (n.2575+34del)
c.2452+34del (n.2452+34del)
 COSMIC
19g.41970152G>ACA9467358ATP1A3c.2581+33C>T (n.2581+33C>T)
c.2542+33C>T (n.2542+33C>T)
c.2575+33C>T (n.2575+33C>T)
c.2452+33C>T (n.2452+33C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970152G=CA2336721048ATP1A3c.2581+33C= (n.2581+33C=)
c.2542+33C= (n.2542+33C=)
c.2575+33C= (n.2575+33C=)
c.2452+33C= (n.2452+33C=)
19g.41970152G>TCA2585368916ATP1A3c.2581+33C>A (n.2581+33C>A)
c.2542+33C>A (n.2542+33C>A)
c.2575+33C>A (n.2575+33C>A)
c.2452+33C>A (n.2452+33C>A)
 gnomAD v4
19g.41970153G>ACA9467359ATP1A3c.2581+32C>T (n.2581+32C>T)
c.2542+32C>T (n.2542+32C>T)
c.2575+32C>T (n.2575+32C>T)
c.2452+32C>T (n.2452+32C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970153G=CA2336721050ATP1A3c.2581+32C= (n.2581+32C=)
c.2542+32C= (n.2542+32C=)
c.2575+32C= (n.2575+32C=)
c.2452+32C= (n.2452+32C=)
19g.41970154T>CCA633471466ATP1A3c.2581+31A>G (n.2581+31A>G)
c.2542+31A>G (n.2542+31A>G)
c.2575+31A>G (n.2575+31A>G)
c.2452+31A>G (n.2452+31A>G)
 dbSNP gnomAD v2 gnomAD v4
19g.41970154T=CA2336721052ATP1A3c.2581+31A= (n.2581+31A=)
c.2542+31A= (n.2542+31A=)
c.2575+31A= (n.2575+31A=)
c.2452+31A= (n.2452+31A=)
19g.41970155G>ACA2576797075ATP1A3c.2581+30C>T (n.2581+30C>T)
c.2542+30C>T (n.2542+30C>T)
c.2575+30C>T (n.2575+30C>T)
c.2452+30C>T (n.2452+30C>T)
 gnomAD v4
19g.41970155G>TCA2585368917ATP1A3c.2581+30C>A (n.2581+30C>A)
c.2542+30C>A (n.2542+30C>A)
c.2575+30C>A (n.2575+30C>A)
c.2452+30C>A (n.2452+30C>A)
 gnomAD v4
19g.41970156G>ACA9467360ATP1A3c.2581+29C>T (n.2581+29C>T)
c.2542+29C>T (n.2542+29C>T)
c.2575+29C>T (n.2575+29C>T)
c.2452+29C>T (n.2452+29C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970156G=CA2336721055ATP1A3c.2581+29C= (n.2581+29C=)
c.2542+29C= (n.2542+29C=)
c.2575+29C= (n.2575+29C=)
c.2452+29C= (n.2452+29C=)
19g.41970156G>TCA2585368918ATP1A3c.2581+29C>A (n.2581+29C>A)
c.2542+29C>A (n.2542+29C>A)
c.2575+29C>A (n.2575+29C>A)
c.2452+29C>A (n.2452+29C>A)
 gnomAD v4
19g.41970159A=CA2336721057ATP1A3c.2581+26T= (n.2581+26T=)
c.2542+26T= (n.2542+26T=)
c.2575+26T= (n.2575+26T=)
c.2452+26T= (n.2452+26T=)
19g.41970159A>GCA882381969ATP1A3c.2581+26T>C (n.2581+26T>C)
c.2542+26T>C (n.2542+26T>C)
c.2575+26T>C (n.2575+26T>C)
c.2452+26T>C (n.2452+26T>C)
 dbSNP gnomAD v4
19g.41970160G>ACA2585368920ATP1A3c.2581+25C>T (n.2581+25C>T)
c.2542+25C>T (n.2542+25C>T)
c.2575+25C>T (n.2575+25C>T)
c.2452+25C>T (n.2452+25C>T)
 gnomAD v4
19g.41970160G>TCA2585368919ATP1A3c.2581+25C>A (n.2581+25C>A)
c.2542+25C>A (n.2542+25C>A)
c.2575+25C>A (n.2575+25C>A)
c.2452+25C>A (n.2452+25C>A)
 gnomAD v4
19g.41970161G>CCA2336721059ATP1A3c.2581+24C>G (n.2581+24C>G)
c.2542+24C>G (n.2542+24C>G)
c.2575+24C>G (n.2575+24C>G)
c.2452+24C>G (n.2452+24C>G)
 dbSNP gnomAD v4
19g.41970161G=CA2336721058ATP1A3c.2581+24C= (n.2581+24C=)
c.2542+24C= (n.2542+24C=)
c.2575+24C= (n.2575+24C=)
c.2452+24C= (n.2452+24C=)
19g.41970162A=CA2336721060ATP1A3c.2581+23T= (n.2581+23T=)
c.2542+23T= (n.2542+23T=)
c.2575+23T= (n.2575+23T=)
c.2452+23T= (n.2452+23T=)
19g.41970162A>GCA633471467ATP1A3c.2581+23T>C (n.2581+23T>C)
c.2542+23T>C (n.2542+23T>C)
c.2575+23T>C (n.2575+23T>C)
c.2452+23T>C (n.2452+23T>C)
 dbSNP gnomAD v2 gnomAD v4
19g.41970163G>ACA2585368921ATP1A3c.2581+22C>T (n.2581+22C>T)
c.2542+22C>T (n.2542+22C>T)
c.2575+22C>T (n.2575+22C>T)
c.2452+22C>T (n.2452+22C>T)
 gnomAD v4
19g.41970164A=CA2336721062ATP1A3c.2581+21T= (n.2581+21T=)
c.2542+21T= (n.2542+21T=)
c.2575+21T= (n.2575+21T=)
c.2452+21T= (n.2452+21T=)
19g.41970164A>GCA9467361ATP1A3c.2581+21T>C (n.2581+21T>C)
c.2542+21T>C (n.2542+21T>C)
c.2575+21T>C (n.2575+21T>C)
c.2452+21T>C (n.2452+21T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970165T>CCA2736074592ATP1A3c.2581+20A>G (n.2581+20A>G)
c.2542+20A>G (n.2542+20A>G)
c.2575+20A>G (n.2575+20A>G)
c.2452+20A>G (n.2452+20A>G)
 dbSNP
19g.41970167G>ACA2585368922ATP1A3c.2581+18C>T (n.2581+18C>T)
c.2542+18C>T (n.2542+18C>T)
c.2575+18C>T (n.2575+18C>T)
c.2452+18C>T (n.2452+18C>T)
 gnomAD v4
19g.41970168A>CCA2585368923ATP1A3c.2581+17T>G (n.2581+17T>G)
c.2542+17T>G (n.2542+17T>G)
c.2575+17T>G (n.2575+17T>G)
c.2452+17T>G (n.2452+17T>G)
 gnomAD v4
19g.41970168A>GCA2580097343ATP1A3c.2581+17T>C (n.2581+17T>C)
c.2542+17T>C (n.2542+17T>C)
c.2575+17T>C (n.2575+17T>C)
c.2452+17T>C (n.2452+17T>C)
 ClinVar
19g.41970170_41970171delinsTCCA2336721064ATP1A3c.2581+14_2581+15delinsGA (n.2581+14_2581+15delinsGA)
c.2542+14_2542+15delinsGA (n.2542+14_2542+15delinsGA)
c.2575+14_2575+15delinsGA (n.2575+14_2575+15delinsGA)
c.2452+14_2452+15delinsGA (n.2452+14_2452+15delinsGA)
19g.41970171C>ACA633471468ATP1A3c.2581+14G>T (n.2581+14G>T)
c.2542+14G>T (n.2542+14G>T)
c.2575+14G>T (n.2575+14G>T)
c.2452+14G>T (n.2452+14G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.41970171C=CA2336721066ATP1A3c.2581+14G= (n.2581+14G=)
c.2542+14G= (n.2542+14G=)
c.2575+14G= (n.2575+14G=)
c.2452+14G= (n.2452+14G=)
19g.41970171C>TCA9467362ATP1A3c.2581+14G>A (n.2581+14G>A)
c.2542+14G>A (n.2542+14G>A)
c.2575+14G>A (n.2575+14G>A)
c.2452+14G>A (n.2452+14G>A)
 dbSNP ExAC gnomAD v3 gnomAD v4
19g.41970174delCA2336721067ATP1A3c.2581+14del (n.2581+14del)
c.2542+14del (n.2542+14del)
c.2575+14del (n.2575+14del)
c.2452+14del (n.2452+14del)
 dbSNP
19g.41970172C=CA2336721072ATP1A3c.2581+13G= (n.2581+13G=)
c.2542+13G= (n.2542+13G=)
c.2575+13G= (n.2575+13G=)
c.2452+13G= (n.2452+13G=)
19g.41970172C>GCA2336721070ATP1A3c.2581+13G>C (n.2581+13G>C)
c.2542+13G>C (n.2542+13G>C)
c.2575+13G>C (n.2575+13G>C)
c.2452+13G>C (n.2452+13G>C)
 ClinVar dbSNP gnomAD v4
19g.41970172C>TCA9467363ATP1A3c.2581+13G>A (n.2581+13G>A)
c.2542+13G>A (n.2542+13G>A)
c.2575+13G>A (n.2575+13G>A)
c.2452+13G>A (n.2452+13G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41970172_41970178delinsCCCGGTGCA2336721071ATP1A3c.2581+7_2581+13delinsCACCGGG (n.2581+7_2581+13delinsCACCGGG)
c.2542+7_2542+13delinsCACCGGG (n.2542+7_2542+13delinsCACCGGG)
c.2575+7_2575+13delinsCACCGGG (n.2575+7_2575+13delinsCACCGGG)
c.2452+7_2452+13delinsCACCGGG (n.2452+7_2452+13delinsCACCGGG)
19g.41970173C>TCA2585368924ATP1A3c.2581+12G>A (n.2581+12G>A)
c.2542+12G>A (n.2542+12G>A)
c.2575+12G>A (n.2575+12G>A)
c.2452+12G>A (n.2452+12G>A)
 gnomAD v4
19g.41970175_41970180delCA2336721073ATP1A3c.2581+7_2581+12del (n.2581+7_2581+12del)
c.2542+7_2542+12del (n.2542+7_2542+12del)
c.2575+7_2575+12del (n.2575+7_2575+12del)
c.2452+7_2452+12del (n.2452+7_2452+12del)
 dbSNP
19g.41970174C=CA2336721075ATP1A3c.2581+11G= (n.2581+11G=)
c.2542+11G= (n.2542+11G=)
c.2575+11G= (n.2575+11G=)
c.2452+11G= (n.2452+11G=)
19g.41970174C>GCA2585368925ATP1A3c.2581+11G>C (n.2581+11G>C)
c.2542+11G>C (n.2542+11G>C)
c.2575+11G>C (n.2575+11G>C)
c.2452+11G>C (n.2452+11G>C)
 gnomAD v4
19g.41970174C>TCA9467364ATP1A3c.2581+11G>A (n.2581+11G>A)
c.2542+11G>A (n.2542+11G>A)
c.2575+11G>A (n.2575+11G>A)
c.2452+11G>A (n.2452+11G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970175G>ACA9467365ATP1A3c.2581+10C>T (n.2581+10C>T)
c.2542+10C>T (n.2542+10C>T)
c.2575+10C>T (n.2575+10C>T)
c.2452+10C>T (n.2452+10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970175G>CCA633471469ATP1A3c.2581+10C>G (n.2581+10C>G)
c.2542+10C>G (n.2542+10C>G)
c.2575+10C>G (n.2575+10C>G)
c.2452+10C>G (n.2452+10C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41970175G=CA2336721077ATP1A3c.2581+10C= (n.2581+10C=)
c.2542+10C= (n.2542+10C=)
c.2575+10C= (n.2575+10C=)
c.2452+10C= (n.2452+10C=)
19g.41970179C>ACA2585368926ATP1A3c.2581+6G>T (n.2581+6G>T)
c.2542+6G>T (n.2542+6G>T)
c.2575+6G>T (n.2575+6G>T)
c.2452+6G>T (n.2452+6G>T)
 gnomAD v4
19g.41970180C>GCA2814451248ATP1A3c.2581+5G>C (n.2581+5G>C)
c.2542+5G>C (n.2542+5G>C)
c.2575+5G>C (n.2575+5G>C)
c.2452+5G>C (n.2452+5G>C)
19g.41970182C=CA2336721079ATP1A3c.2581+3G= (n.2581+3G=)
c.2542+3G= (n.2542+3G=)
c.2575+3G= (n.2575+3G=)
c.2452+3G= (n.2452+3G=)
19g.41970182C>TCA9467366ATP1A3c.2581+3G>A (n.2581+3G>A)
c.2542+3G>A (n.2542+3G>A)
c.2575+3G>A (n.2575+3G>A)
c.2452+3G>A (n.2452+3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41970183A>CCA406038524ATP1A3c.2581+2T>G (n.2581+2T>G)
c.2542+2T>G (n.2542+2T>G)
c.2575+2T>G (n.2575+2T>G)
c.2452+2T>G (n.2452+2T>G)
19g.41970183A>GCA406038522ATP1A3c.2581+2T>C (n.2581+2T>C)
c.2542+2T>C (n.2542+2T>C)
c.2575+2T>C (n.2575+2T>C)
c.2452+2T>C (n.2452+2T>C)
19g.41970183A>TCA406038526ATP1A3c.2581+2T>A (n.2581+2T>A)
c.2542+2T>A (n.2542+2T>A)
c.2575+2T>A (n.2575+2T>A)
c.2452+2T>A (n.2452+2T>A)
19g.41970184C>ACA406038528ATP1A3c.2581+1G>T (n.2581+1G>T)
c.2542+1G>T (n.2542+1G>T)
c.2575+1G>T (n.2575+1G>T)
c.2452+1G>T (n.2452+1G>T)
19g.41970184C=CA2336721081ATP1A3c.2581+1G= (n.2581+1G=)
c.2542+1G= (n.2542+1G=)
c.2575+1G= (n.2575+1G=)
c.2452+1G= (n.2452+1G=)
19g.41970184C>GCA406038530ATP1A3c.2581+1G>C (n.2581+1G>C)
c.2542+1G>C (n.2542+1G>C)
c.2575+1G>C (n.2575+1G>C)
c.2452+1G>C (n.2452+1G>C)
 ClinVar dbSNP
19g.41970184C>TCA346031ATP1A3c.2581+1G>A (n.2581+1G>A)
c.2542+1G>A (n.2542+1G>A)
c.2575+1G>A (n.2575+1G>A)
c.2452+1G>A (n.2452+1G>A)
 ClinVar dbSNP
19g.41970185C>ACA406038533ATP1A3c.2581G>T (p.Gly861Ter)
c.2542G>T (p.Gly848Ter)
c.2575G>T (p.Gly859Ter)
c.2452G>T (p.Gly818Ter)
19g.41970185C>GCA406038535ATP1A3c.2581G>C (p.Gly861Arg)
c.2542G>C (p.Gly848Arg)
c.2575G>C (p.Gly859Arg)
c.2452G>C (p.Gly818Arg)
19g.41970185C>TCA406038536ATP1A3c.2581G>A (p.Gly861Arg)
c.2542G>A (p.Gly848Arg)
c.2575G>A (p.Gly859Arg)
c.2452G>A (p.Gly818Arg)
19g.41970186A>CCA406038538ATP1A3c.2580T>G (p.Ile860Met)
c.2541T>G (p.Ile847Met)
c.2574T>G (p.Ile858Met)
c.2451T>G (p.Ile817Met)
19g.41970186A>GCA507694607ATP1A3c.2580T>C (p.Ile860=)
c.2541T>C (p.Ile847=)
c.2574T>C (p.Ile858=)
c.2451T>C (p.Ile817=)
19g.41970186A>TCA507694606ATP1A3c.2580T>A (p.Ile860=)
c.2541T>A (p.Ile847=)
c.2574T>A (p.Ile858=)
c.2451T>A (p.Ile817=)
19g.41970187A>CCA406038540ATP1A3c.2579T>G (p.Ile860Ser)
c.2540T>G (p.Ile847Ser)
c.2573T>G (p.Ile858Ser)
c.2450T>G (p.Ile817Ser)
19g.41970187A>GCA406038542ATP1A3c.2579T>C (p.Ile860Thr)
c.2540T>C (p.Ile847Thr)
c.2573T>C (p.Ile858Thr)
c.2450T>C (p.Ile817Thr)
19g.41970187A>TCA406038543ATP1A3c.2579T>A (p.Ile860Asn)
c.2540T>A (p.Ile847Asn)
c.2573T>A (p.Ile858Asn)
c.2450T>A (p.Ile817Asn)
19g.41970188T>ACA406038550ATP1A3c.2578A>T (p.Ile860Phe)
c.2539A>T (p.Ile847Phe)
c.2572A>T (p.Ile858Phe)
c.2449A>T (p.Ile817Phe)
19g.41970188T>CCA406038548ATP1A3c.2578A>G (p.Ile860Val)
c.2539A>G (p.Ile847Val)
c.2572A>G (p.Ile858Val)
c.2449A>G (p.Ile817Val)
19g.41970188T>GCA406038546ATP1A3c.2578A>C (p.Ile860Leu)
c.2539A>C (p.Ile847Leu)
c.2572A>C (p.Ile858Leu)
c.2449A>C (p.Ile817Leu)
19g.41970189C>ACA406038552ATP1A3c.2577G>T (p.Gln859His)
c.2538G>T (p.Gln846His)
c.2571G>T (p.Gln857His)
c.2448G>T (p.Gln816His)
19g.41970189C>GCA406038554ATP1A3c.2577G>C (p.Gln859His)
c.2538G>C (p.Gln846His)
c.2571G>C (p.Gln857His)
c.2448G>C (p.Gln816His)
 gnomAD v4
19g.41970189C>TCA507694609ATP1A3c.2577G>A (p.Gln859=)
c.2538G>A (p.Gln846=)
c.2571G>A (p.Gln857=)
c.2448G>A (p.Gln816=)
19g.41970190T>ACA406038556ATP1A3c.2576A>T (p.Gln859Leu)
c.2537A>T (p.Gln846Leu)
c.2570A>T (p.Gln857Leu)
c.2447A>T (p.Gln816Leu)
19g.41970190T>CCA406038558ATP1A3c.2576A>G (p.Gln859Arg)
c.2537A>G (p.Gln846Arg)
c.2570A>G (p.Gln857Arg)
c.2447A>G (p.Gln816Arg)
19g.41970190T>GCA406038560ATP1A3c.2576A>C (p.Gln859Pro)
c.2537A>C (p.Gln846Pro)
c.2570A>C (p.Gln857Pro)
c.2447A>C (p.Gln816Pro)
19g.41970191G>ACA406038562ATP1A3c.2575C>T (p.Gln859Ter)
c.2536C>T (p.Gln846Ter)
c.2569C>T (p.Gln857Ter)
c.2446C>T (p.Gln816Ter)
19g.41970191G>CCA406038564ATP1A3c.2575C>G (p.Gln859Glu)
c.2536C>G (p.Gln846Glu)
c.2569C>G (p.Gln857Glu)
c.2446C>G (p.Gln816Glu)
19g.41970191G>TCA406038566ATP1A3c.2575C>A (p.Gln859Lys)
c.2536C>A (p.Gln846Lys)
c.2569C>A (p.Gln857Lys)
c.2446C>A (p.Gln816Lys)
19g.41970192C>ACA507694612ATP1A3c.2574G>T (p.Gly858=)
c.2535G>T (p.Gly845=)
c.2568G>T (p.Gly856=)
c.2445G>T (p.Gly815=)
19g.41970192C>GCA507694613ATP1A3c.2574G>C (p.Gly858=)
c.2535G>C (p.Gly845=)
c.2568G>C (p.Gly856=)
c.2445G>C (p.Gly815=)
19g.41970192C>TCA507694614ATP1A3c.2574G>A (p.Gly858=)
c.2535G>A (p.Gly845=)
c.2568G>A (p.Gly856=)
c.2445G>A (p.Gly815=)
19g.41970193C>ACA406038568ATP1A3c.2573G>T (p.Gly858Val)
c.2534G>T (p.Gly845Val)
c.2567G>T (p.Gly856Val)
c.2444G>T (p.Gly815Val)
19g.41970193C>GCA406038569ATP1A3c.2573G>C (p.Gly858Ala)
c.2534G>C (p.Gly845Ala)
c.2567G>C (p.Gly856Ala)
c.2444G>C (p.Gly815Ala)
19g.41970193C>TCA406038571ATP1A3c.2573G>A (p.Gly858Glu)
c.2534G>A (p.Gly845Glu)
c.2567G>A (p.Gly856Glu)
c.2444G>A (p.Gly815Glu)
 gnomAD v4
19g.41970194C>ACA406038579ATP1A3c.2572G>T (p.Gly858Trp)
c.2533G>T (p.Gly845Trp)
c.2566G>T (p.Gly856Trp)
c.2443G>T (p.Gly815Trp)
19g.41970194C=CA2336721083ATP1A3c.2572G= (p.Gly858=)
c.2533G= (p.Gly845=)
c.2566G= (p.Gly856=)
c.2443G= (p.Gly815=)
19g.41970194C>GCA406038580ATP1A3c.2572G>C (p.Gly858Arg)
c.2533G>C (p.Gly845Arg)
c.2566G>C (p.Gly856Arg)
c.2443G>C (p.Gly815Arg)
19g.41970194C>TCA406038574ATP1A3c.2572G>A (p.Gly858Arg)
c.2533G>A (p.Gly845Arg)
c.2566G>A (p.Gly856Arg)
c.2443G>A (p.Gly815Arg)
 ClinVar dbSNP gnomAD v4 COSMIC
19g.41970195G>ACA9467367ATP1A3c.2571C>T (p.Tyr857=)
c.2532C>T (p.Tyr844=)
c.2565C>T (p.Tyr855=)
c.2442C>T (p.Tyr814=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970195G>CCA406038581ATP1A3c.2571C>G (p.Tyr857Ter)
c.2532C>G (p.Tyr844Ter)
c.2565C>G (p.Tyr855Ter)
c.2442C>G (p.Tyr814Ter)
19g.41970195G=CA2336721084ATP1A3c.2571C= (p.Tyr857=)
c.2532C= (p.Tyr844=)
c.2565C= (p.Tyr855=)
c.2442C= (p.Tyr814=)
19g.41970195G>TCA406038583ATP1A3c.2571C>A (p.Tyr857Ter)
c.2532C>A (p.Tyr844Ter)
c.2565C>A (p.Tyr855Ter)
c.2442C>A (p.Tyr814Ter)
19g.41970196T>ACA406038586ATP1A3c.2570A>T (p.Tyr857Phe)
c.2531A>T (p.Tyr844Phe)
c.2564A>T (p.Tyr855Phe)
c.2441A>T (p.Tyr814Phe)
19g.41970196T>CCA406038587ATP1A3c.2570A>G (p.Tyr857Cys)
c.2531A>G (p.Tyr844Cys)
c.2564A>G (p.Tyr855Cys)
c.2441A>G (p.Tyr814Cys)
 ClinVar
19g.41970196T>GCA406038589ATP1A3c.2570A>C (p.Tyr857Ser)
c.2531A>C (p.Tyr844Ser)
c.2564A>C (p.Tyr855Ser)
c.2441A>C (p.Tyr814Ser)
19g.41970197A>CCA406038590ATP1A3c.2569T>G (p.Tyr857Asp)
c.2530T>G (p.Tyr844Asp)
c.2563T>G (p.Tyr855Asp)
c.2440T>G (p.Tyr814Asp)
19g.41970197A>GCA406038593ATP1A3c.2569T>C (p.Tyr857His)
c.2530T>C (p.Tyr844His)
c.2563T>C (p.Tyr855His)
c.2440T>C (p.Tyr814His)
19g.41970197A>TCA406038591ATP1A3c.2569T>A (p.Tyr857Asn)
c.2530T>A (p.Tyr844Asn)
c.2563T>A (p.Tyr855Asn)
c.2440T>A (p.Tyr814Asn)
19g.41970197_41970198delinsAGCA2336721085ATP1A3c.2568_2569delinsCT (p.Ala856=)
c.2529_2530delinsCT (p.Ala843=)
c.2562_2563delinsCT (p.Ala854=)
c.2439_2440delinsCT (p.Ala813=)
19g.41970198G>ACA507694617ATP1A3c.2568C>T (p.Ala856=)
c.2529C>T (p.Ala843=)
c.2562C>T (p.Ala854=)
c.2439C>T (p.Ala813=)
 gnomAD v4
19g.41970198G>CCA507694618ATP1A3c.2568C>G (p.Ala856=)
c.2529C>G (p.Ala843=)
c.2562C>G (p.Ala854=)
c.2439C>G (p.Ala813=)
 gnomAD v4
19g.41970198G>TCA507694619ATP1A3c.2568C>A (p.Ala856=)
c.2529C>A (p.Ala843=)
c.2562C>A (p.Ala854=)
c.2439C>A (p.Ala813=)
19g.41970199delCA308586368ATP1A3c.2568del (p.Tyr857ThrfsTer6)
c.2529del (p.Tyr844ThrfsTer6)
c.2562del (p.Tyr855ThrfsTer6)
c.2439del (p.Tyr814ThrfsTer6)
 dbSNP
19g.41970199G>ACA406038595ATP1A3c.2567C>T (p.Ala856Val)
c.2528C>T (p.Ala843Val)
c.2561C>T (p.Ala854Val)
c.2438C>T (p.Ala813Val)
 gnomAD v4
19g.41970199G>CCA406038597ATP1A3c.2567C>G (p.Ala856Gly)
c.2528C>G (p.Ala843Gly)
c.2561C>G (p.Ala854Gly)
c.2438C>G (p.Ala813Gly)
19g.41970199G>TCA406038598ATP1A3c.2567C>A (p.Ala856Asp)
c.2528C>A (p.Ala843Asp)
c.2561C>A (p.Ala854Asp)
c.2438C>A (p.Ala813Asp)
 ClinVar
19g.41970200C>ACA406038600ATP1A3c.2566G>T (p.Ala856Ser)
c.2527G>T (p.Ala843Ser)
c.2560G>T (p.Ala854Ser)
c.2437G>T (p.Ala813Ser)
19g.41970200C>GCA406038604ATP1A3c.2566G>C (p.Ala856Pro)
c.2527G>C (p.Ala843Pro)
c.2560G>C (p.Ala854Pro)
c.2437G>C (p.Ala813Pro)
19g.41970200C>TCA406038603ATP1A3c.2566G>A (p.Ala856Thr)
c.2527G>A (p.Ala843Thr)
c.2560G>A (p.Ala854Thr)
c.2437G>A (p.Ala813Thr)
19g.41970201C>ACA406038605ATP1A3c.2565G>T (p.Met855Ile)
c.2526G>T (p.Met842Ile)
c.2559G>T (p.Met853Ile)
c.2436G>T (p.Met812Ile)
19g.41970201C>GCA406038607ATP1A3c.2565G>C (p.Met855Ile)
c.2526G>C (p.Met842Ile)
c.2559G>C (p.Met853Ile)
c.2436G>C (p.Met812Ile)
19g.41970201C>TCA406038609ATP1A3c.2565G>A (p.Met855Ile)
c.2526G>A (p.Met842Ile)
c.2559G>A (p.Met853Ile)
c.2436G>A (p.Met812Ile)
19g.41970202A>CCA406038611ATP1A3c.2564T>G (p.Met855Arg)
c.2525T>G (p.Met842Arg)
c.2558T>G (p.Met853Arg)
c.2435T>G (p.Met812Arg)
19g.41970202A>GCA406038613ATP1A3c.2564T>C (p.Met855Thr)
c.2525T>C (p.Met842Thr)
c.2558T>C (p.Met853Thr)
c.2435T>C (p.Met812Thr)
 ClinVar
19g.41970202A>TCA406038615ATP1A3c.2564T>A (p.Met855Lys)
c.2525T>A (p.Met842Lys)
c.2558T>A (p.Met853Lys)
c.2435T>A (p.Met812Lys)
19g.41970203T>ACA406038618ATP1A3c.2563A>T (p.Met855Leu)
c.2524A>T (p.Met842Leu)
c.2557A>T (p.Met853Leu)
c.2434A>T (p.Met812Leu)
19g.41970203T>CCA406038620ATP1A3c.2563A>G (p.Met855Val)
c.2524A>G (p.Met842Val)
c.2557A>G (p.Met853Val)
c.2434A>G (p.Met812Val)
19g.41970203T>GCA406038622ATP1A3c.2563A>C (p.Met855Leu)
c.2524A>C (p.Met842Leu)
c.2557A>C (p.Met853Leu)
c.2434A>C (p.Met812Leu)
19g.41970204G>ACA507694621ATP1A3c.2562C>T (p.Ser854=)
c.2523C>T (p.Ser841=)
c.2556C>T (p.Ser852=)
c.2433C>T (p.Ser811=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41970204G>CCA406038624ATP1A3c.2562C>G (p.Ser854Arg)
c.2523C>G (p.Ser841Arg)
c.2556C>G (p.Ser852Arg)
c.2433C>G (p.Ser811Arg)
19g.41970204G=CA2336721087ATP1A3c.2562C= (p.Ser854=)
c.2523C= (p.Ser841=)
c.2556C= (p.Ser852=)
c.2433C= (p.Ser811=)
19g.41970204G>TCA406038625ATP1A3c.2562C>A (p.Ser854Arg)
c.2523C>A (p.Ser841Arg)
c.2556C>A (p.Ser852Arg)
c.2433C>A (p.Ser811Arg)
19g.41970205C>ACA406038629ATP1A3c.2561G>T (p.Ser854Ile)
c.2522G>T (p.Ser841Ile)
c.2555G>T (p.Ser852Ile)
c.2432G>T (p.Ser811Ile)
19g.41970205C>GCA406038631ATP1A3c.2561G>C (p.Ser854Thr)
c.2522G>C (p.Ser841Thr)
c.2555G>C (p.Ser852Thr)
c.2432G>C (p.Ser811Thr)
19g.41970205C>TCA406038627ATP1A3c.2561G>A (p.Ser854Asn)
c.2522G>A (p.Ser841Asn)
c.2555G>A (p.Ser852Asn)
c.2432G>A (p.Ser811Asn)
19g.41970206T>ACA406038633ATP1A3c.2560A>T (p.Ser854Cys)
c.2521A>T (p.Ser841Cys)
c.2554A>T (p.Ser852Cys)
c.2431A>T (p.Ser811Cys)
19g.41970206T>CCA406038634ATP1A3c.2560A>G (p.Ser854Gly)
c.2521A>G (p.Ser841Gly)
c.2554A>G (p.Ser852Gly)
c.2431A>G (p.Ser811Gly)
19g.41970206T>GCA406038636ATP1A3c.2560A>C (p.Ser854Arg)
c.2521A>C (p.Ser841Arg)
c.2554A>C (p.Ser852Arg)
c.2431A>C (p.Ser811Arg)
19g.41970207G>ACA507694622ATP1A3c.2559C>T (p.Ile853=)
c.2520C>T (p.Ile840=)
c.2553C>T (p.Ile851=)
c.2430C>T (p.Ile810=)
19g.41970207G>CCA406038638ATP1A3c.2559C>G (p.Ile853Met)
c.2520C>G (p.Ile840Met)
c.2553C>G (p.Ile851Met)
c.2430C>G (p.Ile810Met)
19g.41970207G>TCA507694623ATP1A3c.2559C>A (p.Ile853=)
c.2520C>A (p.Ile840=)
c.2553C>A (p.Ile851=)
c.2430C>A (p.Ile810=)
 gnomAD v4
19g.41970208A>CCA406038640ATP1A3c.2558T>G (p.Ile853Ser)
c.2519T>G (p.Ile840Ser)
c.2552T>G (p.Ile851Ser)
c.2429T>G (p.Ile810Ser)
19g.41970208A>GCA406038641ATP1A3c.2558T>C (p.Ile853Thr)
c.2519T>C (p.Ile840Thr)
c.2552T>C (p.Ile851Thr)
c.2429T>C (p.Ile810Thr)
 gnomAD v4
19g.41970208A>TCA406038642ATP1A3c.2558T>A (p.Ile853Asn)
c.2519T>A (p.Ile840Asn)
c.2552T>A (p.Ile851Asn)
c.2429T>A (p.Ile810Asn)
19g.41970209T>ACA406038644ATP1A3c.2557A>T (p.Ile853Phe)
c.2518A>T (p.Ile840Phe)
c.2551A>T (p.Ile851Phe)
c.2428A>T (p.Ile810Phe)
19g.41970209T>CCA406038648ATP1A3c.2557A>G (p.Ile853Val)
c.2518A>G (p.Ile840Val)
c.2551A>G (p.Ile851Val)
c.2428A>G (p.Ile810Val)
19g.41970209T>GCA406038646ATP1A3c.2557A>C (p.Ile853Leu)
c.2518A>C (p.Ile840Leu)
c.2551A>C (p.Ile851Leu)
c.2428A>C (p.Ile810Leu)
19g.41970210G>ACA507694624ATP1A3c.2556C>T (p.Leu852=)
c.2517C>T (p.Leu839=)
c.2550C>T (p.Leu850=)
c.2427C>T (p.Leu809=)
19g.41970210G>CCA507694625ATP1A3c.2556C>G (p.Leu852=)
c.2517C>G (p.Leu839=)
c.2550C>G (p.Leu850=)
c.2427C>G (p.Leu809=)
 COSMIC
19g.41970210G>TCA507694626ATP1A3c.2556C>A (p.Leu852=)
c.2517C>A (p.Leu839=)
c.2550C>A (p.Leu850=)
c.2427C>A (p.Leu809=)
19g.41970210_41970215delinsGAGTCTCA2336721089ATP1A3c.2551_2556delinsAGACTC (p.Arg851=)
c.2512_2517delinsAGACTC (p.Arg838=)
c.2545_2550delinsAGACTC (p.Arg849=)
c.2422_2427delinsAGACTC (p.Arg808=)
19g.41970211A>CCA406038650ATP1A3c.2555T>G (p.Leu852Arg)
c.2516T>G (p.Leu839Arg)
c.2549T>G (p.Leu850Arg)
c.2426T>G (p.Leu809Arg)
19g.41970211A>GCA406038653ATP1A3c.2555T>C (p.Leu852Pro)
c.2516T>C (p.Leu839Pro)
c.2549T>C (p.Leu850Pro)
c.2426T>C (p.Leu809Pro)
19g.41970211A>TCA406038655ATP1A3c.2555T>A (p.Leu852His)
c.2516T>A (p.Leu839His)
c.2549T>A (p.Leu850His)
c.2426T>A (p.Leu809His)
19g.41970211_41970215delinsGACA10654769ATP1A3c.2551_2555delinsTC (p.Arg851_Leu852delinsSer)
c.2512_2516delinsTC (p.Arg838_Leu839delinsSer)
c.2545_2549delinsTC (p.Arg849_Leu850delinsSer)
c.2422_2426delinsTC (p.Arg808_Leu809delinsSer)
 ClinVar dbSNP
19g.41970212G>ACA406038656ATP1A3c.2554C>T (p.Leu852Phe)
c.2515C>T (p.Leu839Phe)
c.2548C>T (p.Leu850Phe)
c.2425C>T (p.Leu809Phe)
19g.41970212G>CCA406038658ATP1A3c.2554C>G (p.Leu852Val)
c.2515C>G (p.Leu839Val)
c.2548C>G (p.Leu850Val)
c.2425C>G (p.Leu809Val)
19g.41970212G>TCA406038657ATP1A3c.2554C>A (p.Leu852Ile)
c.2515C>A (p.Leu839Ile)
c.2548C>A (p.Leu850Ile)
c.2425C>A (p.Leu809Ile)
19g.41970213T>ACA406038660ATP1A3c.2553A>T (p.Arg851Ser)
c.2514A>T (p.Arg838Ser)
c.2547A>T (p.Arg849Ser)
c.2424A>T (p.Arg808Ser)
19g.41970213T>CCA507694628ATP1A3c.2553A>G (p.Arg851=)
c.2514A>G (p.Arg838=)
c.2547A>G (p.Arg849=)
c.2424A>G (p.Arg808=)
 ClinVar
19g.41970213T>GCA406038662ATP1A3c.2553A>C (p.Arg851Ser)
c.2514A>C (p.Arg838Ser)
c.2547A>C (p.Arg849Ser)
c.2424A>C (p.Arg808Ser)
19g.41970214C>ACA406038664ATP1A3c.2552G>T (p.Arg851Ile)
c.2513G>T (p.Arg838Ile)
c.2546G>T (p.Arg849Ile)
c.2423G>T (p.Arg808Ile)
19g.41970214C>GCA406038666ATP1A3c.2552G>C (p.Arg851Thr)
c.2513G>C (p.Arg838Thr)
c.2546G>C (p.Arg849Thr)
c.2423G>C (p.Arg808Thr)
19g.41970214C>TCA406038668ATP1A3c.2552G>A (p.Arg851Lys)
c.2513G>A (p.Arg838Lys)
c.2546G>A (p.Arg849Lys)
c.2423G>A (p.Arg808Lys)
19g.41970215T>ACA406038670ATP1A3c.2551A>T (p.Arg851Ter)
c.2512A>T (p.Arg838Ter)
c.2545A>T (p.Arg849Ter)
c.2422A>T (p.Arg808Ter)
19g.41970215T>CCA406038672ATP1A3c.2551A>G (p.Arg851Gly)
c.2512A>G (p.Arg838Gly)
c.2545A>G (p.Arg849Gly)
c.2422A>G (p.Arg808Gly)
19g.41970215T>GCA507694630ATP1A3c.2551A>C (p.Arg851=)
c.2512A>C (p.Arg838=)
c.2545A>C (p.Arg849=)
c.2422A>C (p.Arg808=)
19g.41970216C>ACA406038674ATP1A3c.2550G>T (p.Glu850Asp)
c.2511G>T (p.Glu837Asp)
c.2544G>T (p.Glu848Asp)
c.2421G>T (p.Glu807Asp)
19g.41970216C>GCA406038676ATP1A3c.2550G>C (p.Glu850Asp)
c.2511G>C (p.Glu837Asp)
c.2544G>C (p.Glu848Asp)
c.2421G>C (p.Glu807Asp)
19g.41970216C>TCA507694631ATP1A3c.2550G>A (p.Glu850=)
c.2511G>A (p.Glu837=)
c.2544G>A (p.Glu848=)
c.2421G>A (p.Glu807=)
 gnomAD v4
19g.41970217T>ACA406038678ATP1A3c.2549A>T (p.Glu850Val)
c.2510A>T (p.Glu837Val)
c.2543A>T (p.Glu848Val)
c.2420A>T (p.Glu807Val)
19g.41970217T>CCA406038679ATP1A3c.2549A>G (p.Glu850Gly)
c.2510A>G (p.Glu837Gly)
c.2543A>G (p.Glu848Gly)
c.2420A>G (p.Glu807Gly)
19g.41970217T>GCA406038680ATP1A3c.2549A>C (p.Glu850Ala)
c.2510A>C (p.Glu837Ala)
c.2543A>C (p.Glu848Ala)
c.2420A>C (p.Glu807Ala)
19g.41970218C>ACA406038683ATP1A3c.2548G>T (p.Glu850Ter)
c.2509G>T (p.Glu837Ter)
c.2542G>T (p.Glu848Ter)
c.2419G>T (p.Glu807Ter)
19g.41970218C=CA2336721116ATP1A3c.2548G= (p.Glu850=)
c.2509G= (p.Glu837=)
c.2542G= (p.Glu848=)
c.2419G= (p.Glu807=)
19g.41970218C>GCA406038686ATP1A3c.2548G>C (p.Glu850Gln)
c.2509G>C (p.Glu837Gln)
c.2542G>C (p.Glu848Gln)
c.2419G>C (p.Glu807Gln)
19g.41970218C>TCA406038684ATP1A3c.2548G>A (p.Glu850Lys)
c.2509G>A (p.Glu837Lys)
c.2542G>A (p.Glu848Lys)
c.2419G>A (p.Glu807Lys)
 ClinVar dbSNP gnomAD v4
19g.41970219A>CCA406038687ATP1A3c.2547T>G (p.Asn849Lys)
c.2508T>G (p.Asn836Lys)
c.2541T>G (p.Asn847Lys)
c.2418T>G (p.Asn806Lys)
19g.41970219A>GCA507694632ATP1A3c.2547T>C (p.Asn849=)
c.2508T>C (p.Asn836=)
c.2541T>C (p.Asn847=)
c.2418T>C (p.Asn806=)
19g.41970219A>TCA406038689ATP1A3c.2547T>A (p.Asn849Lys)
c.2508T>A (p.Asn836Lys)
c.2541T>A (p.Asn847Lys)
c.2418T>A (p.Asn806Lys)
19g.41970220T>ACA406038691ATP1A3c.2546A>T (p.Asn849Ile)
c.2507A>T (p.Asn836Ile)
c.2540A>T (p.Asn847Ile)
c.2417A>T (p.Asn806Ile)
19g.41970220T>CCA406038693ATP1A3c.2546A>G (p.Asn849Ser)
c.2507A>G (p.Asn836Ser)
c.2540A>G (p.Asn847Ser)
c.2417A>G (p.Asn806Ser)
19g.41970220T>GCA406038695ATP1A3c.2546A>C (p.Asn849Thr)
c.2507A>C (p.Asn836Thr)
c.2540A>C (p.Asn847Thr)
c.2417A>C (p.Asn806Thr)
19g.41970221T>ACA406038697ATP1A3c.2545A>T (p.Asn849Tyr)
c.2506A>T (p.Asn836Tyr)
c.2539A>T (p.Asn847Tyr)
c.2416A>T (p.Asn806Tyr)
19g.41970221T>CCA406038699ATP1A3c.2545A>G (p.Asn849Asp)
c.2506A>G (p.Asn836Asp)
c.2539A>G (p.Asn847Asp)
c.2416A>G (p.Asn806Asp)
19g.41970221T>GCA406038701ATP1A3c.2545A>C (p.Asn849His)
c.2506A>C (p.Asn836His)
c.2539A>C (p.Asn847His)
c.2416A>C (p.Asn806His)
19g.41970222G>ACA507694633ATP1A3c.2544C>T (p.Val848=)
c.2505C>T (p.Val835=)
c.2538C>T (p.Val846=)
c.2415C>T (p.Val805=)
19g.41970222G>CCA507694634ATP1A3c.2544C>G (p.Val848=)
c.2505C>G (p.Val835=)
c.2538C>G (p.Val846=)
c.2415C>G (p.Val805=)
19g.41970222G>TCA507694635ATP1A3c.2544C>A (p.Val848=)
c.2505C>A (p.Val835=)
c.2538C>A (p.Val846=)
c.2415C>A (p.Val805=)
19g.41970223A>CCA406038703ATP1A3c.2543T>G (p.Val848Gly)
c.2504T>G (p.Val835Gly)
c.2537T>G (p.Val846Gly)
c.2414T>G (p.Val805Gly)
19g.41970223A>GCA406038705ATP1A3c.2543T>C (p.Val848Ala)
c.2504T>C (p.Val835Ala)
c.2537T>C (p.Val846Ala)
c.2414T>C (p.Val805Ala)
19g.41970223A>TCA406038706ATP1A3c.2543T>A (p.Val848Asp)
c.2504T>A (p.Val835Asp)
c.2537T>A (p.Val846Asp)
c.2414T>A (p.Val805Asp)
19g.41970224C>ACA406038709ATP1A3c.2542G>T (p.Val848Phe)
c.2503G>T (p.Val835Phe)
c.2536G>T (p.Val846Phe)
c.2413G>T (p.Val805Phe)
19g.41970224C>GCA406038708ATP1A3c.2542G>C (p.Val848Leu)
c.2503G>C (p.Val835Leu)
c.2536G>C (p.Val846Leu)
c.2413G>C (p.Val805Leu)
19g.41970224C>TCA406038707ATP1A3c.2542G>A (p.Val848Ile)
c.2503G>A (p.Val835Ile)
c.2536G>A (p.Val846Ile)
c.2413G>A (p.Val805Ile)
19g.41970225C>ACA406038710ATP1A3c.2541G>T (p.Leu847Phe)
c.2502G>T (p.Leu834Phe)
c.2535G>T (p.Leu845Phe)
c.2412G>T (p.Leu804Phe)
19g.41970225C=CA2336721119ATP1A3c.2541G= (p.Leu847=)
c.2502G= (p.Leu834=)
c.2535G= (p.Leu845=)
c.2412G= (p.Leu804=)
19g.41970225C>GCA406038711ATP1A3c.2541G>C (p.Leu847Phe)
c.2502G>C (p.Leu834Phe)
c.2535G>C (p.Leu845Phe)
c.2412G>C (p.Leu804Phe)
19g.41970225C>TCA507694691ATP1A3c.2541G>A (p.Leu847=)
c.2502G>A (p.Leu834=)
c.2535G>A (p.Leu845=)
c.2412G>A (p.Leu804=)
 dbSNP

Number of alleles fetched