Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41970135_41970151dup | CA2585368909 | ATP1A3 | c.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 |
19 | g.41970129G>A | CA2336721026 | ATP1A3 | c.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 |
19 | g.41970129G= | CA2336721025 | ATP1A3 | c.2581+56C= (n.2581+56C=) c.2542+56C= (n.2542+56C=) c.2575+56C= (n.2575+56C=) c.2452+56C= (n.2452+56C=) | |
19 | g.41970129G>T | CA2576797073 | ATP1A3 | c.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) | |
19 | g.41970130C>A | CA2585368912 | ATP1A3 | c.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 |
19 | g.41970130C= | CA2336721027 | ATP1A3 | c.2581+55G= (n.2581+55G=) c.2542+55G= (n.2542+55G=) c.2575+55G= (n.2575+55G=) c.2452+55G= (n.2452+55G=) | |
19 | g.41970130C>T | CA308586270 | ATP1A3 | c.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 |
19 | g.41970132C>A | CA308586275 | ATP1A3 | c.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 |
19 | g.41970132C= | CA2336721028 | ATP1A3 | c.2581+53G= (n.2581+53G=) c.2542+53G= (n.2542+53G=) c.2575+53G= (n.2575+53G=) c.2452+53G= (n.2452+53G=) | |
19 | g.41970132C>G | CA2585368913 | ATP1A3 | c.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 |
19 | g.41970134G>A | CA9467352 | ATP1A3 | c.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 |
19 | g.41970134G>C | CA633471462 | ATP1A3 | c.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 |
19 | g.41970134G= | CA2336721030 | ATP1A3 | c.2581+51C= (n.2581+51C=) c.2542+51C= (n.2542+51C=) c.2575+51C= (n.2575+51C=) c.2452+51C= (n.2452+51C=) | |
19 | g.41970135C= | CA2336721031 | ATP1A3 | c.2581+50G= (n.2581+50G=) c.2542+50G= (n.2542+50G=) c.2575+50G= (n.2575+50G=) c.2452+50G= (n.2452+50G=) | |
19 | g.41970135C>T | CA308586291 | ATP1A3 | c.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 |
19 | g.41970137C= | CA2336721033 | ATP1A3 | c.2581+48G= (n.2581+48G=) c.2542+48G= (n.2542+48G=) c.2575+48G= (n.2575+48G=) c.2452+48G= (n.2452+48G=) | |
19 | g.41970137C>T | CA9467353 | ATP1A3 | c.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 |
19 | g.41970139A= | CA2336721034 | ATP1A3 | c.2581+46T= (n.2581+46T=) c.2542+46T= (n.2542+46T=) c.2575+46T= (n.2575+46T=) c.2452+46T= (n.2452+46T=) | |
19 | g.41970139A>G | CA633471463 | ATP1A3 | c.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 |
19 | g.41970140G>A | CA9467354 | ATP1A3 | c.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 |
19 | g.41970140G>C | CA2585368914 | ATP1A3 | c.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 |
19 | g.41970140G= | CA2336721035 | ATP1A3 | c.2581+45C= (n.2581+45C=) c.2542+45C= (n.2542+45C=) c.2575+45C= (n.2575+45C=) c.2452+45C= (n.2452+45C=) | |
19 | g.41970141dup | CA2840693850 | ATP1A3 | c.2581+45dup (n.2581+45dup) c.2542+45dup (n.2542+45dup) c.2575+45dup (n.2575+45dup) c.2452+45dup (n.2452+45dup) | |
19 | g.41970141G>A | CA633471464 | ATP1A3 | c.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 |
19 | g.41970141G= | CA2336721037 | ATP1A3 | c.2581+44C= (n.2581+44C=) c.2542+44C= (n.2542+44C=) c.2575+44C= (n.2575+44C=) c.2452+44C= (n.2452+44C=) | |
19 | g.41970142C>A | CA9467355 | ATP1A3 | c.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 |
19 | g.41970142C= | CA2336721038 | ATP1A3 | c.2581+43G= (n.2581+43G=) c.2542+43G= (n.2542+43G=) c.2575+43G= (n.2575+43G=) c.2452+43G= (n.2452+43G=) | |
19 | g.41970144C>A | CA2838320921 | ATP1A3 | c.2581+41G>T (n.2581+41G>T) c.2542+41G>T (n.2542+41G>T) c.2575+41G>T (n.2575+41G>T) c.2452+41G>T (n.2452+41G>T) | |
19 | g.41970144C= | CA2336721039 | ATP1A3 | c.2581+41G= (n.2581+41G=) c.2542+41G= (n.2542+41G=) c.2575+41G= (n.2575+41G=) c.2452+41G= (n.2452+41G=) | |
19 | g.41970144C>G | CA2336721040 | ATP1A3 | c.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 |
19 | g.41970144C>T | CA9467356 | ATP1A3 | c.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 |
19 | g.41970144_41970164del | CA2576797074 | ATP1A3 | c.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) | |
19 | g.41970145G>A | CA9467357 | ATP1A3 | c.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 |
19 | g.41970145G>C | CA2336721043 | ATP1A3 | c.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 |
19 | g.41970145G= | CA2336721042 | ATP1A3 | c.2581+40C= (n.2581+40C=) c.2542+40C= (n.2542+40C=) c.2575+40C= (n.2575+40C=) c.2452+40C= (n.2452+40C=) | |
19 | g.41970149C>A | CA633471465 | ATP1A3 | c.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 |
19 | g.41970149C= | CA2336721044 | ATP1A3 | c.2581+36G= (n.2581+36G=) c.2542+36G= (n.2542+36G=) c.2575+36G= (n.2575+36G=) c.2452+36G= (n.2452+36G=) | |
19 | g.41970150T>G | CA2585368915 | ATP1A3 | c.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 |
19 | g.41970151G>C | CA2336721047 | ATP1A3 | c.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 |
19 | g.41970151G= | CA2336721046 | ATP1A3 | c.2581+34C= (n.2581+34C=) c.2542+34C= (n.2542+34C=) c.2575+34C= (n.2575+34C=) c.2452+34C= (n.2452+34C=) | |
19 | g.41970151G>T | CA2840693851 | ATP1A3 | c.2581+34C>A (n.2581+34C>A) c.2542+34C>A (n.2542+34C>A) c.2575+34C>A (n.2575+34C>A) c.2452+34C>A (n.2452+34C>A) | |
19 | g.41970153del | CA657436785 | ATP1A3 | c.2581+34del (n.2581+34del) c.2542+34del (n.2542+34del) c.2575+34del (n.2575+34del) c.2452+34del (n.2452+34del) | COSMIC |
19 | g.41970152G>A | CA9467358 | ATP1A3 | c.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 |
19 | g.41970152G= | CA2336721048 | ATP1A3 | c.2581+33C= (n.2581+33C=) c.2542+33C= (n.2542+33C=) c.2575+33C= (n.2575+33C=) c.2452+33C= (n.2452+33C=) | |
19 | g.41970152G>T | CA2585368916 | ATP1A3 | c.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 |
19 | g.41970153G>A | CA9467359 | ATP1A3 | c.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 |
19 | g.41970153G= | CA2336721050 | ATP1A3 | c.2581+32C= (n.2581+32C=) c.2542+32C= (n.2542+32C=) c.2575+32C= (n.2575+32C=) c.2452+32C= (n.2452+32C=) | |
19 | g.41970154T>C | CA633471466 | ATP1A3 | c.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 |
19 | g.41970154T= | CA2336721052 | ATP1A3 | c.2581+31A= (n.2581+31A=) c.2542+31A= (n.2542+31A=) c.2575+31A= (n.2575+31A=) c.2452+31A= (n.2452+31A=) | |
19 | g.41970155G>A | CA2576797075 | ATP1A3 | c.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 |
19 | g.41970155G>T | CA2585368917 | ATP1A3 | c.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 |
19 | g.41970156G>A | CA9467360 | ATP1A3 | c.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 |
19 | g.41970156G= | CA2336721055 | ATP1A3 | c.2581+29C= (n.2581+29C=) c.2542+29C= (n.2542+29C=) c.2575+29C= (n.2575+29C=) c.2452+29C= (n.2452+29C=) | |
19 | g.41970156G>T | CA2585368918 | ATP1A3 | c.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 |
19 | g.41970159A= | CA2336721057 | ATP1A3 | c.2581+26T= (n.2581+26T=) c.2542+26T= (n.2542+26T=) c.2575+26T= (n.2575+26T=) c.2452+26T= (n.2452+26T=) | |
19 | g.41970159A>G | CA882381969 | ATP1A3 | c.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 |
19 | g.41970160G>A | CA2585368920 | ATP1A3 | c.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 |
19 | g.41970160G>T | CA2585368919 | ATP1A3 | c.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 |
19 | g.41970161G>C | CA2336721059 | ATP1A3 | c.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 |
19 | g.41970161G= | CA2336721058 | ATP1A3 | c.2581+24C= (n.2581+24C=) c.2542+24C= (n.2542+24C=) c.2575+24C= (n.2575+24C=) c.2452+24C= (n.2452+24C=) | |
19 | g.41970162A= | CA2336721060 | ATP1A3 | c.2581+23T= (n.2581+23T=) c.2542+23T= (n.2542+23T=) c.2575+23T= (n.2575+23T=) c.2452+23T= (n.2452+23T=) | |
19 | g.41970162A>G | CA633471467 | ATP1A3 | c.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 |
19 | g.41970163G>A | CA2585368921 | ATP1A3 | c.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 |
19 | g.41970164A= | CA2336721062 | ATP1A3 | c.2581+21T= (n.2581+21T=) c.2542+21T= (n.2542+21T=) c.2575+21T= (n.2575+21T=) c.2452+21T= (n.2452+21T=) | |
19 | g.41970164A>G | CA9467361 | ATP1A3 | c.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 |
19 | g.41970165T>C | CA2736074592 | ATP1A3 | c.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 |
19 | g.41970166G>T | CA2838432153 | ATP1A3 | c.2581+19C>A (n.2581+19C>A) c.2542+19C>A (n.2542+19C>A) c.2575+19C>A (n.2575+19C>A) c.2452+19C>A (n.2452+19C>A) | |
19 | g.41970167del | CA2838320923 | ATP1A3 | c.2581+19del (n.2581+19del) c.2542+19del (n.2542+19del) c.2575+19del (n.2575+19del) c.2452+19del (n.2452+19del) | |
19 | g.41970167G>A | CA2585368922 | ATP1A3 | c.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 |
19 | g.41970168A>C | CA2585368923 | ATP1A3 | c.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 |
19 | g.41970168A>G | CA2580097343 | ATP1A3 | c.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 |
19 | g.41970170_41970171delinsTC | CA2336721064 | ATP1A3 | c.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) | |
19 | g.41970171C>A | CA633471468 | ATP1A3 | c.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 |
19 | g.41970171C= | CA2336721066 | ATP1A3 | c.2581+14G= (n.2581+14G=) c.2542+14G= (n.2542+14G=) c.2575+14G= (n.2575+14G=) c.2452+14G= (n.2452+14G=) | |
19 | g.41970171C>T | CA9467362 | ATP1A3 | c.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 |
19 | g.41970174del | CA2336721067 | ATP1A3 | c.2581+14del (n.2581+14del) c.2542+14del (n.2542+14del) c.2575+14del (n.2575+14del) c.2452+14del (n.2452+14del) | dbSNP |
19 | g.41970172C= | CA2336721072 | ATP1A3 | c.2581+13G= (n.2581+13G=) c.2542+13G= (n.2542+13G=) c.2575+13G= (n.2575+13G=) c.2452+13G= (n.2452+13G=) | |
19 | g.41970172C>G | CA2336721070 | ATP1A3 | c.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 |
19 | g.41970172C>T | CA9467363 | ATP1A3 | c.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 |
19 | g.41970172_41970178delinsCCCGGTG | CA2336721071 | ATP1A3 | c.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) | |
19 | g.41970173C>T | CA2585368924 | ATP1A3 | c.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 |
19 | g.41970175_41970180del | CA2336721073 | ATP1A3 | c.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 |
19 | g.41970174C>A | CA2840693852 | ATP1A3 | c.2581+11G>T (n.2581+11G>T) c.2542+11G>T (n.2542+11G>T) c.2575+11G>T (n.2575+11G>T) c.2452+11G>T (n.2452+11G>T) | |
19 | g.41970174C= | CA2336721075 | ATP1A3 | c.2581+11G= (n.2581+11G=) c.2542+11G= (n.2542+11G=) c.2575+11G= (n.2575+11G=) c.2452+11G= (n.2452+11G=) | |
19 | g.41970174C>G | CA2585368925 | ATP1A3 | c.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 |
19 | g.41970174C>T | CA9467364 | ATP1A3 | c.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 |
19 | g.41970175G>A | CA9467365 | ATP1A3 | c.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 |
19 | g.41970175G>C | CA633471469 | ATP1A3 | c.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 |
19 | g.41970175G= | CA2336721077 | ATP1A3 | c.2581+10C= (n.2581+10C=) c.2542+10C= (n.2542+10C=) c.2575+10C= (n.2575+10C=) c.2452+10C= (n.2452+10C=) | |
19 | g.41970179C>A | CA2585368926 | ATP1A3 | c.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 |
19 | g.41970180C>G | CA2814451248 | ATP1A3 | c.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) | |
19 | g.41970182C= | CA2336721079 | ATP1A3 | c.2581+3G= (n.2581+3G=) c.2542+3G= (n.2542+3G=) c.2575+3G= (n.2575+3G=) c.2452+3G= (n.2452+3G=) | |
19 | g.41970182C>T | CA9467366 | ATP1A3 | c.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 |
19 | g.41970183A>C | CA406038524 | ATP1A3 | c.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) | |
19 | g.41970183A>G | CA406038522 | ATP1A3 | c.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) | |
19 | g.41970183A>T | CA406038526 | ATP1A3 | c.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) | |
19 | g.41970184C>A | CA406038528 | ATP1A3 | c.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) | |
19 | g.41970184C= | CA2336721081 | ATP1A3 | c.2581+1G= (n.2581+1G=) c.2542+1G= (n.2542+1G=) c.2575+1G= (n.2575+1G=) c.2452+1G= (n.2452+1G=) | |
19 | g.41970184C>G | CA406038530 | ATP1A3 | c.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 |
19 | g.41970184C>T | CA346031 | ATP1A3 | c.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 |
19 | g.41970185C>A | CA406038533 | ATP1A3 | c.2581G>T (p.Gly861Ter) c.2542G>T (p.Gly848Ter) c.2575G>T (p.Gly859Ter) c.2452G>T (p.Gly818Ter) | |
19 | g.41970185C>G | CA406038535 | ATP1A3 | c.2581G>C (p.Gly861Arg) c.2542G>C (p.Gly848Arg) c.2575G>C (p.Gly859Arg) c.2452G>C (p.Gly818Arg) | |
19 | g.41970185C>T | CA406038536 | ATP1A3 | c.2581G>A (p.Gly861Arg) c.2542G>A (p.Gly848Arg) c.2575G>A (p.Gly859Arg) c.2452G>A (p.Gly818Arg) | |
19 | g.41970186A>C | CA406038538 | ATP1A3 | c.2580T>G (p.Ile860Met) c.2541T>G (p.Ile847Met) c.2574T>G (p.Ile858Met) c.2451T>G (p.Ile817Met) | |
19 | g.41970186A>G | CA507694607 | ATP1A3 | c.2580T>C (p.Ile860=) c.2541T>C (p.Ile847=) c.2574T>C (p.Ile858=) c.2451T>C (p.Ile817=) | |
19 | g.41970186A>T | CA507694606 | ATP1A3 | c.2580T>A (p.Ile860=) c.2541T>A (p.Ile847=) c.2574T>A (p.Ile858=) c.2451T>A (p.Ile817=) | |
19 | g.41970187A>C | CA406038540 | ATP1A3 | c.2579T>G (p.Ile860Ser) c.2540T>G (p.Ile847Ser) c.2573T>G (p.Ile858Ser) c.2450T>G (p.Ile817Ser) | |
19 | g.41970187A>G | CA406038542 | ATP1A3 | c.2579T>C (p.Ile860Thr) c.2540T>C (p.Ile847Thr) c.2573T>C (p.Ile858Thr) c.2450T>C (p.Ile817Thr) | |
19 | g.41970187A>T | CA406038543 | ATP1A3 | c.2579T>A (p.Ile860Asn) c.2540T>A (p.Ile847Asn) c.2573T>A (p.Ile858Asn) c.2450T>A (p.Ile817Asn) | |
19 | g.41970188T>A | CA406038550 | ATP1A3 | c.2578A>T (p.Ile860Phe) c.2539A>T (p.Ile847Phe) c.2572A>T (p.Ile858Phe) c.2449A>T (p.Ile817Phe) | |
19 | g.41970188T>C | CA406038548 | ATP1A3 | c.2578A>G (p.Ile860Val) c.2539A>G (p.Ile847Val) c.2572A>G (p.Ile858Val) c.2449A>G (p.Ile817Val) | |
19 | g.41970188T>G | CA406038546 | ATP1A3 | c.2578A>C (p.Ile860Leu) c.2539A>C (p.Ile847Leu) c.2572A>C (p.Ile858Leu) c.2449A>C (p.Ile817Leu) | |
19 | g.41970189C>A | CA406038552 | ATP1A3 | c.2577G>T (p.Gln859His) c.2538G>T (p.Gln846His) c.2571G>T (p.Gln857His) c.2448G>T (p.Gln816His) | |
19 | g.41970189C>G | CA406038554 | ATP1A3 | c.2577G>C (p.Gln859His) c.2538G>C (p.Gln846His) c.2571G>C (p.Gln857His) c.2448G>C (p.Gln816His) | gnomAD v4 |
19 | g.41970189C>T | CA507694609 | ATP1A3 | c.2577G>A (p.Gln859=) c.2538G>A (p.Gln846=) c.2571G>A (p.Gln857=) c.2448G>A (p.Gln816=) | |
19 | g.41970190T>A | CA406038556 | ATP1A3 | c.2576A>T (p.Gln859Leu) c.2537A>T (p.Gln846Leu) c.2570A>T (p.Gln857Leu) c.2447A>T (p.Gln816Leu) | |
19 | g.41970190T>C | CA406038558 | ATP1A3 | c.2576A>G (p.Gln859Arg) c.2537A>G (p.Gln846Arg) c.2570A>G (p.Gln857Arg) c.2447A>G (p.Gln816Arg) | |
19 | g.41970190T>G | CA406038560 | ATP1A3 | c.2576A>C (p.Gln859Pro) c.2537A>C (p.Gln846Pro) c.2570A>C (p.Gln857Pro) c.2447A>C (p.Gln816Pro) | |
19 | g.41970191G>A | CA406038562 | ATP1A3 | c.2575C>T (p.Gln859Ter) c.2536C>T (p.Gln846Ter) c.2569C>T (p.Gln857Ter) c.2446C>T (p.Gln816Ter) | |
19 | g.41970191G>C | CA406038564 | ATP1A3 | c.2575C>G (p.Gln859Glu) c.2536C>G (p.Gln846Glu) c.2569C>G (p.Gln857Glu) c.2446C>G (p.Gln816Glu) | |
19 | g.41970191G>T | CA406038566 | ATP1A3 | c.2575C>A (p.Gln859Lys) c.2536C>A (p.Gln846Lys) c.2569C>A (p.Gln857Lys) c.2446C>A (p.Gln816Lys) | |
19 | g.41970192C>A | CA507694612 | ATP1A3 | c.2574G>T (p.Gly858=) c.2535G>T (p.Gly845=) c.2568G>T (p.Gly856=) c.2445G>T (p.Gly815=) | |
19 | g.41970192C>G | CA507694613 | ATP1A3 | c.2574G>C (p.Gly858=) c.2535G>C (p.Gly845=) c.2568G>C (p.Gly856=) c.2445G>C (p.Gly815=) | |
19 | g.41970192C>T | CA507694614 | ATP1A3 | c.2574G>A (p.Gly858=) c.2535G>A (p.Gly845=) c.2568G>A (p.Gly856=) c.2445G>A (p.Gly815=) | |
19 | g.41970193C>A | CA406038568 | ATP1A3 | c.2573G>T (p.Gly858Val) c.2534G>T (p.Gly845Val) c.2567G>T (p.Gly856Val) c.2444G>T (p.Gly815Val) | |
19 | g.41970193C>G | CA406038569 | ATP1A3 | c.2573G>C (p.Gly858Ala) c.2534G>C (p.Gly845Ala) c.2567G>C (p.Gly856Ala) c.2444G>C (p.Gly815Ala) | |
19 | g.41970193C>T | CA406038571 | ATP1A3 | c.2573G>A (p.Gly858Glu) c.2534G>A (p.Gly845Glu) c.2567G>A (p.Gly856Glu) c.2444G>A (p.Gly815Glu) | gnomAD v4 |
19 | g.41970194C>A | CA406038579 | ATP1A3 | c.2572G>T (p.Gly858Trp) c.2533G>T (p.Gly845Trp) c.2566G>T (p.Gly856Trp) c.2443G>T (p.Gly815Trp) | |
19 | g.41970194C= | CA2336721083 | ATP1A3 | c.2572G= (p.Gly858=) c.2533G= (p.Gly845=) c.2566G= (p.Gly856=) c.2443G= (p.Gly815=) | |
19 | g.41970194C>G | CA406038580 | ATP1A3 | c.2572G>C (p.Gly858Arg) c.2533G>C (p.Gly845Arg) c.2566G>C (p.Gly856Arg) c.2443G>C (p.Gly815Arg) | |
19 | g.41970194C>T | CA406038574 | ATP1A3 | c.2572G>A (p.Gly858Arg) c.2533G>A (p.Gly845Arg) c.2566G>A (p.Gly856Arg) c.2443G>A (p.Gly815Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.41970195G>A | CA9467367 | ATP1A3 | c.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 |
19 | g.41970195G>C | CA406038581 | ATP1A3 | c.2571C>G (p.Tyr857Ter) c.2532C>G (p.Tyr844Ter) c.2565C>G (p.Tyr855Ter) c.2442C>G (p.Tyr814Ter) | |
19 | g.41970195G= | CA2336721084 | ATP1A3 | c.2571C= (p.Tyr857=) c.2532C= (p.Tyr844=) c.2565C= (p.Tyr855=) c.2442C= (p.Tyr814=) | |
19 | g.41970195G>T | CA406038583 | ATP1A3 | c.2571C>A (p.Tyr857Ter) c.2532C>A (p.Tyr844Ter) c.2565C>A (p.Tyr855Ter) c.2442C>A (p.Tyr814Ter) | |
19 | g.41970196T>A | CA406038586 | ATP1A3 | c.2570A>T (p.Tyr857Phe) c.2531A>T (p.Tyr844Phe) c.2564A>T (p.Tyr855Phe) c.2441A>T (p.Tyr814Phe) | |
19 | g.41970196T>C | CA406038587 | ATP1A3 | c.2570A>G (p.Tyr857Cys) c.2531A>G (p.Tyr844Cys) c.2564A>G (p.Tyr855Cys) c.2441A>G (p.Tyr814Cys) | ClinVar |
19 | g.41970196T>G | CA406038589 | ATP1A3 | c.2570A>C (p.Tyr857Ser) c.2531A>C (p.Tyr844Ser) c.2564A>C (p.Tyr855Ser) c.2441A>C (p.Tyr814Ser) | |
19 | g.41970197A>C | CA406038590 | ATP1A3 | c.2569T>G (p.Tyr857Asp) c.2530T>G (p.Tyr844Asp) c.2563T>G (p.Tyr855Asp) c.2440T>G (p.Tyr814Asp) | |
19 | g.41970197A>G | CA406038593 | ATP1A3 | c.2569T>C (p.Tyr857His) c.2530T>C (p.Tyr844His) c.2563T>C (p.Tyr855His) c.2440T>C (p.Tyr814His) | |
19 | g.41970197A>T | CA406038591 | ATP1A3 | c.2569T>A (p.Tyr857Asn) c.2530T>A (p.Tyr844Asn) c.2563T>A (p.Tyr855Asn) c.2440T>A (p.Tyr814Asn) | |
19 | g.41970197_41970198delinsAG | CA2336721085 | ATP1A3 | c.2568_2569delinsCT (p.Ala856=) c.2529_2530delinsCT (p.Ala843=) c.2562_2563delinsCT (p.Ala854=) c.2439_2440delinsCT (p.Ala813=) | |
19 | g.41970198G>A | CA507694617 | ATP1A3 | c.2568C>T (p.Ala856=) c.2529C>T (p.Ala843=) c.2562C>T (p.Ala854=) c.2439C>T (p.Ala813=) | gnomAD v4 |
19 | g.41970198G>C | CA507694618 | ATP1A3 | c.2568C>G (p.Ala856=) c.2529C>G (p.Ala843=) c.2562C>G (p.Ala854=) c.2439C>G (p.Ala813=) | gnomAD v4 |
19 | g.41970198G>T | CA507694619 | ATP1A3 | c.2568C>A (p.Ala856=) c.2529C>A (p.Ala843=) c.2562C>A (p.Ala854=) c.2439C>A (p.Ala813=) | |
19 | g.41970199del | CA308586368 | ATP1A3 | c.2568del (p.Tyr857ThrfsTer6) c.2529del (p.Tyr844ThrfsTer6) c.2562del (p.Tyr855ThrfsTer6) c.2439del (p.Tyr814ThrfsTer6) | dbSNP |
19 | g.41970199G>A | CA406038595 | ATP1A3 | c.2567C>T (p.Ala856Val) c.2528C>T (p.Ala843Val) c.2561C>T (p.Ala854Val) c.2438C>T (p.Ala813Val) | gnomAD v4 |
19 | g.41970199G>C | CA406038597 | ATP1A3 | c.2567C>G (p.Ala856Gly) c.2528C>G (p.Ala843Gly) c.2561C>G (p.Ala854Gly) c.2438C>G (p.Ala813Gly) | |
19 | g.41970199G>T | CA406038598 | ATP1A3 | c.2567C>A (p.Ala856Asp) c.2528C>A (p.Ala843Asp) c.2561C>A (p.Ala854Asp) c.2438C>A (p.Ala813Asp) | ClinVar |
19 | g.41970200C>A | CA406038600 | ATP1A3 | c.2566G>T (p.Ala856Ser) c.2527G>T (p.Ala843Ser) c.2560G>T (p.Ala854Ser) c.2437G>T (p.Ala813Ser) | |
19 | g.41970200C>G | CA406038604 | ATP1A3 | c.2566G>C (p.Ala856Pro) c.2527G>C (p.Ala843Pro) c.2560G>C (p.Ala854Pro) c.2437G>C (p.Ala813Pro) | |
19 | g.41970200C>T | CA406038603 | ATP1A3 | c.2566G>A (p.Ala856Thr) c.2527G>A (p.Ala843Thr) c.2560G>A (p.Ala854Thr) c.2437G>A (p.Ala813Thr) | |
19 | g.41970201C>A | CA406038605 | ATP1A3 | c.2565G>T (p.Met855Ile) c.2526G>T (p.Met842Ile) c.2559G>T (p.Met853Ile) c.2436G>T (p.Met812Ile) | |
19 | g.41970201C>G | CA406038607 | ATP1A3 | c.2565G>C (p.Met855Ile) c.2526G>C (p.Met842Ile) c.2559G>C (p.Met853Ile) c.2436G>C (p.Met812Ile) | |
19 | g.41970201C>T | CA406038609 | ATP1A3 | c.2565G>A (p.Met855Ile) c.2526G>A (p.Met842Ile) c.2559G>A (p.Met853Ile) c.2436G>A (p.Met812Ile) | |
19 | g.41970202A>C | CA406038611 | ATP1A3 | c.2564T>G (p.Met855Arg) c.2525T>G (p.Met842Arg) c.2558T>G (p.Met853Arg) c.2435T>G (p.Met812Arg) | |
19 | g.41970202A>G | CA406038613 | ATP1A3 | c.2564T>C (p.Met855Thr) c.2525T>C (p.Met842Thr) c.2558T>C (p.Met853Thr) c.2435T>C (p.Met812Thr) | ClinVar |
19 | g.41970202A>T | CA406038615 | ATP1A3 | c.2564T>A (p.Met855Lys) c.2525T>A (p.Met842Lys) c.2558T>A (p.Met853Lys) c.2435T>A (p.Met812Lys) | |
19 | g.41970203T>A | CA406038618 | ATP1A3 | c.2563A>T (p.Met855Leu) c.2524A>T (p.Met842Leu) c.2557A>T (p.Met853Leu) c.2434A>T (p.Met812Leu) | |
19 | g.41970203T>C | CA406038620 | ATP1A3 | c.2563A>G (p.Met855Val) c.2524A>G (p.Met842Val) c.2557A>G (p.Met853Val) c.2434A>G (p.Met812Val) | |
19 | g.41970203T>G | CA406038622 | ATP1A3 | c.2563A>C (p.Met855Leu) c.2524A>C (p.Met842Leu) c.2557A>C (p.Met853Leu) c.2434A>C (p.Met812Leu) | |
19 | g.41970204G>A | CA507694621 | ATP1A3 | c.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 |
19 | g.41970204G>C | CA406038624 | ATP1A3 | c.2562C>G (p.Ser854Arg) c.2523C>G (p.Ser841Arg) c.2556C>G (p.Ser852Arg) c.2433C>G (p.Ser811Arg) | |
19 | g.41970204G= | CA2336721087 | ATP1A3 | c.2562C= (p.Ser854=) c.2523C= (p.Ser841=) c.2556C= (p.Ser852=) c.2433C= (p.Ser811=) | |
19 | g.41970204G>T | CA406038625 | ATP1A3 | c.2562C>A (p.Ser854Arg) c.2523C>A (p.Ser841Arg) c.2556C>A (p.Ser852Arg) c.2433C>A (p.Ser811Arg) | |
19 | g.41970205C>A | CA406038629 | ATP1A3 | c.2561G>T (p.Ser854Ile) c.2522G>T (p.Ser841Ile) c.2555G>T (p.Ser852Ile) c.2432G>T (p.Ser811Ile) | |
19 | g.41970205C>G | CA406038631 | ATP1A3 | c.2561G>C (p.Ser854Thr) c.2522G>C (p.Ser841Thr) c.2555G>C (p.Ser852Thr) c.2432G>C (p.Ser811Thr) | |
19 | g.41970205C>T | CA406038627 | ATP1A3 | c.2561G>A (p.Ser854Asn) c.2522G>A (p.Ser841Asn) c.2555G>A (p.Ser852Asn) c.2432G>A (p.Ser811Asn) | |
19 | g.41970206T>A | CA406038633 | ATP1A3 | c.2560A>T (p.Ser854Cys) c.2521A>T (p.Ser841Cys) c.2554A>T (p.Ser852Cys) c.2431A>T (p.Ser811Cys) | |
19 | g.41970206T>C | CA406038634 | ATP1A3 | c.2560A>G (p.Ser854Gly) c.2521A>G (p.Ser841Gly) c.2554A>G (p.Ser852Gly) c.2431A>G (p.Ser811Gly) | |
19 | g.41970206T>G | CA406038636 | ATP1A3 | c.2560A>C (p.Ser854Arg) c.2521A>C (p.Ser841Arg) c.2554A>C (p.Ser852Arg) c.2431A>C (p.Ser811Arg) | |
19 | g.41970207G>A | CA507694622 | ATP1A3 | c.2559C>T (p.Ile853=) c.2520C>T (p.Ile840=) c.2553C>T (p.Ile851=) c.2430C>T (p.Ile810=) | |
19 | g.41970207G>C | CA406038638 | ATP1A3 | c.2559C>G (p.Ile853Met) c.2520C>G (p.Ile840Met) c.2553C>G (p.Ile851Met) c.2430C>G (p.Ile810Met) | |
19 | g.41970207G>T | CA507694623 | ATP1A3 | c.2559C>A (p.Ile853=) c.2520C>A (p.Ile840=) c.2553C>A (p.Ile851=) c.2430C>A (p.Ile810=) | gnomAD v4 |
19 | g.41970208A>C | CA406038640 | ATP1A3 | c.2558T>G (p.Ile853Ser) c.2519T>G (p.Ile840Ser) c.2552T>G (p.Ile851Ser) c.2429T>G (p.Ile810Ser) | |
19 | g.41970208A>G | CA406038641 | ATP1A3 | c.2558T>C (p.Ile853Thr) c.2519T>C (p.Ile840Thr) c.2552T>C (p.Ile851Thr) c.2429T>C (p.Ile810Thr) | gnomAD v4 |
19 | g.41970208A>T | CA406038642 | ATP1A3 | c.2558T>A (p.Ile853Asn) c.2519T>A (p.Ile840Asn) c.2552T>A (p.Ile851Asn) c.2429T>A (p.Ile810Asn) | |
19 | g.41970209T>A | CA406038644 | ATP1A3 | c.2557A>T (p.Ile853Phe) c.2518A>T (p.Ile840Phe) c.2551A>T (p.Ile851Phe) c.2428A>T (p.Ile810Phe) | |
19 | g.41970209T>C | CA406038648 | ATP1A3 | c.2557A>G (p.Ile853Val) c.2518A>G (p.Ile840Val) c.2551A>G (p.Ile851Val) c.2428A>G (p.Ile810Val) | |
19 | g.41970209T>G | CA406038646 | ATP1A3 | c.2557A>C (p.Ile853Leu) c.2518A>C (p.Ile840Leu) c.2551A>C (p.Ile851Leu) c.2428A>C (p.Ile810Leu) | |
19 | g.41970210G>A | CA507694624 | ATP1A3 | c.2556C>T (p.Leu852=) c.2517C>T (p.Leu839=) c.2550C>T (p.Leu850=) c.2427C>T (p.Leu809=) | |
19 | g.41970210G>C | CA507694625 | ATP1A3 | c.2556C>G (p.Leu852=) c.2517C>G (p.Leu839=) c.2550C>G (p.Leu850=) c.2427C>G (p.Leu809=) | COSMIC |
19 | g.41970210G>T | CA507694626 | ATP1A3 | c.2556C>A (p.Leu852=) c.2517C>A (p.Leu839=) c.2550C>A (p.Leu850=) c.2427C>A (p.Leu809=) | |
19 | g.41970210_41970215delinsGAGTCT | CA2336721089 | ATP1A3 | c.2551_2556delinsAGACTC (p.Arg851=) c.2512_2517delinsAGACTC (p.Arg838=) c.2545_2550delinsAGACTC (p.Arg849=) c.2422_2427delinsAGACTC (p.Arg808=) | |
19 | g.41970211A>C | CA406038650 | ATP1A3 | c.2555T>G (p.Leu852Arg) c.2516T>G (p.Leu839Arg) c.2549T>G (p.Leu850Arg) c.2426T>G (p.Leu809Arg) | |
19 | g.41970211A>G | CA406038653 | ATP1A3 | c.2555T>C (p.Leu852Pro) c.2516T>C (p.Leu839Pro) c.2549T>C (p.Leu850Pro) c.2426T>C (p.Leu809Pro) | |
19 | g.41970211A>T | CA406038655 | ATP1A3 | c.2555T>A (p.Leu852His) c.2516T>A (p.Leu839His) c.2549T>A (p.Leu850His) c.2426T>A (p.Leu809His) | |
19 | g.41970211_41970215delinsGA | CA10654769 | ATP1A3 | c.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 |
19 | g.41970212G>A | CA406038656 | ATP1A3 | c.2554C>T (p.Leu852Phe) c.2515C>T (p.Leu839Phe) c.2548C>T (p.Leu850Phe) c.2425C>T (p.Leu809Phe) | |
19 | g.41970212G>C | CA406038658 | ATP1A3 | c.2554C>G (p.Leu852Val) c.2515C>G (p.Leu839Val) c.2548C>G (p.Leu850Val) c.2425C>G (p.Leu809Val) | |
19 | g.41970212G>T | CA406038657 | ATP1A3 | c.2554C>A (p.Leu852Ile) c.2515C>A (p.Leu839Ile) c.2548C>A (p.Leu850Ile) c.2425C>A (p.Leu809Ile) | |
19 | g.41970213T>A | CA406038660 | ATP1A3 | c.2553A>T (p.Arg851Ser) c.2514A>T (p.Arg838Ser) c.2547A>T (p.Arg849Ser) c.2424A>T (p.Arg808Ser) | |
19 | g.41970213T>C | CA507694628 | ATP1A3 | c.2553A>G (p.Arg851=) c.2514A>G (p.Arg838=) c.2547A>G (p.Arg849=) c.2424A>G (p.Arg808=) | ClinVar |
19 | g.41970213T>G | CA406038662 | ATP1A3 | c.2553A>C (p.Arg851Ser) c.2514A>C (p.Arg838Ser) c.2547A>C (p.Arg849Ser) c.2424A>C (p.Arg808Ser) | |
19 | g.41970214C>A | CA406038664 | ATP1A3 | c.2552G>T (p.Arg851Ile) c.2513G>T (p.Arg838Ile) c.2546G>T (p.Arg849Ile) c.2423G>T (p.Arg808Ile) | |
19 | g.41970214C>G | CA406038666 | ATP1A3 | c.2552G>C (p.Arg851Thr) c.2513G>C (p.Arg838Thr) c.2546G>C (p.Arg849Thr) c.2423G>C (p.Arg808Thr) | |
19 | g.41970214C>T | CA406038668 | ATP1A3 | c.2552G>A (p.Arg851Lys) c.2513G>A (p.Arg838Lys) c.2546G>A (p.Arg849Lys) c.2423G>A (p.Arg808Lys) | |
19 | g.41970215T>A | CA406038670 | ATP1A3 | c.2551A>T (p.Arg851Ter) c.2512A>T (p.Arg838Ter) c.2545A>T (p.Arg849Ter) c.2422A>T (p.Arg808Ter) | |
19 | g.41970215T>C | CA406038672 | ATP1A3 | c.2551A>G (p.Arg851Gly) c.2512A>G (p.Arg838Gly) c.2545A>G (p.Arg849Gly) c.2422A>G (p.Arg808Gly) | |
19 | g.41970215T>G | CA507694630 | ATP1A3 | c.2551A>C (p.Arg851=) c.2512A>C (p.Arg838=) c.2545A>C (p.Arg849=) c.2422A>C (p.Arg808=) | |
19 | g.41970216C>A | CA406038674 | ATP1A3 | c.2550G>T (p.Glu850Asp) c.2511G>T (p.Glu837Asp) c.2544G>T (p.Glu848Asp) c.2421G>T (p.Glu807Asp) | |
19 | g.41970216C>G | CA406038676 | ATP1A3 | c.2550G>C (p.Glu850Asp) c.2511G>C (p.Glu837Asp) c.2544G>C (p.Glu848Asp) c.2421G>C (p.Glu807Asp) | |
19 | g.41970216C>T | CA507694631 | ATP1A3 | c.2550G>A (p.Glu850=) c.2511G>A (p.Glu837=) c.2544G>A (p.Glu848=) c.2421G>A (p.Glu807=) | gnomAD v4 |
19 | g.41970217T>A | CA406038678 | ATP1A3 | c.2549A>T (p.Glu850Val) c.2510A>T (p.Glu837Val) c.2543A>T (p.Glu848Val) c.2420A>T (p.Glu807Val) | |
19 | g.41970217T>C | CA406038679 | ATP1A3 | c.2549A>G (p.Glu850Gly) c.2510A>G (p.Glu837Gly) c.2543A>G (p.Glu848Gly) c.2420A>G (p.Glu807Gly) | |
19 | g.41970217T>G | CA406038680 | ATP1A3 | c.2549A>C (p.Glu850Ala) c.2510A>C (p.Glu837Ala) c.2543A>C (p.Glu848Ala) c.2420A>C (p.Glu807Ala) | |
19 | g.41970218C>A | CA406038683 | ATP1A3 | c.2548G>T (p.Glu850Ter) c.2509G>T (p.Glu837Ter) c.2542G>T (p.Glu848Ter) c.2419G>T (p.Glu807Ter) | |
19 | g.41970218C= | CA2336721116 | ATP1A3 | c.2548G= (p.Glu850=) c.2509G= (p.Glu837=) c.2542G= (p.Glu848=) c.2419G= (p.Glu807=) | |
19 | g.41970218C>G | CA406038686 | ATP1A3 | c.2548G>C (p.Glu850Gln) c.2509G>C (p.Glu837Gln) c.2542G>C (p.Glu848Gln) c.2419G>C (p.Glu807Gln) | |
19 | g.41970218C>T | CA406038684 | ATP1A3 | c.2548G>A (p.Glu850Lys) c.2509G>A (p.Glu837Lys) c.2542G>A (p.Glu848Lys) c.2419G>A (p.Glu807Lys) | ClinVar dbSNP gnomAD v4 |
19 | g.41970219A>C | CA406038687 | ATP1A3 | c.2547T>G (p.Asn849Lys) c.2508T>G (p.Asn836Lys) c.2541T>G (p.Asn847Lys) c.2418T>G (p.Asn806Lys) | |
19 | g.41970219A>G | CA507694632 | ATP1A3 | c.2547T>C (p.Asn849=) c.2508T>C (p.Asn836=) c.2541T>C (p.Asn847=) c.2418T>C (p.Asn806=) | |
19 | g.41970219A>T | CA406038689 | ATP1A3 | c.2547T>A (p.Asn849Lys) c.2508T>A (p.Asn836Lys) c.2541T>A (p.Asn847Lys) c.2418T>A (p.Asn806Lys) | |
19 | g.41970220T>A | CA406038691 | ATP1A3 | c.2546A>T (p.Asn849Ile) c.2507A>T (p.Asn836Ile) c.2540A>T (p.Asn847Ile) c.2417A>T (p.Asn806Ile) | |
19 | g.41970220T>C | CA406038693 | ATP1A3 | c.2546A>G (p.Asn849Ser) c.2507A>G (p.Asn836Ser) c.2540A>G (p.Asn847Ser) c.2417A>G (p.Asn806Ser) | |
19 | g.41970220T>G | CA406038695 | ATP1A3 | c.2546A>C (p.Asn849Thr) c.2507A>C (p.Asn836Thr) c.2540A>C (p.Asn847Thr) c.2417A>C (p.Asn806Thr) | |
19 | g.41970221T>A | CA406038697 | ATP1A3 | c.2545A>T (p.Asn849Tyr) c.2506A>T (p.Asn836Tyr) c.2539A>T (p.Asn847Tyr) c.2416A>T (p.Asn806Tyr) | |
19 | g.41970221T>C | CA406038699 | ATP1A3 | c.2545A>G (p.Asn849Asp) c.2506A>G (p.Asn836Asp) c.2539A>G (p.Asn847Asp) c.2416A>G (p.Asn806Asp) | |
19 | g.41970221T>G | CA406038701 | ATP1A3 | c.2545A>C (p.Asn849His) c.2506A>C (p.Asn836His) c.2539A>C (p.Asn847His) c.2416A>C (p.Asn806His) | |
19 | g.41970222G>A | CA507694633 | ATP1A3 | c.2544C>T (p.Val848=) c.2505C>T (p.Val835=) c.2538C>T (p.Val846=) c.2415C>T (p.Val805=) | |
19 | g.41970222G>C | CA507694634 | ATP1A3 | c.2544C>G (p.Val848=) c.2505C>G (p.Val835=) c.2538C>G (p.Val846=) c.2415C>G (p.Val805=) | |
19 | g.41970222G>T | CA507694635 | ATP1A3 | c.2544C>A (p.Val848=) c.2505C>A (p.Val835=) c.2538C>A (p.Val846=) c.2415C>A (p.Val805=) | |
19 | g.41970223A>C | CA406038703 | ATP1A3 | c.2543T>G (p.Val848Gly) c.2504T>G (p.Val835Gly) c.2537T>G (p.Val846Gly) c.2414T>G (p.Val805Gly) | |
19 | g.41970223A>G | CA406038705 | ATP1A3 | c.2543T>C (p.Val848Ala) c.2504T>C (p.Val835Ala) c.2537T>C (p.Val846Ala) c.2414T>C (p.Val805Ala) | |
19 | g.41970223A>T | CA406038706 | ATP1A3 | c.2543T>A (p.Val848Asp) c.2504T>A (p.Val835Asp) c.2537T>A (p.Val846Asp) c.2414T>A (p.Val805Asp) | |
19 | g.41970224C>A | CA406038709 | ATP1A3 | c.2542G>T (p.Val848Phe) c.2503G>T (p.Val835Phe) c.2536G>T (p.Val846Phe) c.2413G>T (p.Val805Phe) | |
19 | g.41970224C>G | CA406038708 | ATP1A3 | c.2542G>C (p.Val848Leu) c.2503G>C (p.Val835Leu) c.2536G>C (p.Val846Leu) c.2413G>C (p.Val805Leu) | |
19 | g.41970224C>T | CA406038707 | ATP1A3 | c.2542G>A (p.Val848Ile) c.2503G>A (p.Val835Ile) c.2536G>A (p.Val846Ile) c.2413G>A (p.Val805Ile) | |
19 | g.41970225C>A | CA406038710 | ATP1A3 | c.2541G>T (p.Leu847Phe) c.2502G>T (p.Leu834Phe) c.2535G>T (p.Leu845Phe) c.2412G>T (p.Leu804Phe) | |
19 | g.41970225C= | CA2336721119 | ATP1A3 | c.2541G= (p.Leu847=) c.2502G= (p.Leu834=) c.2535G= (p.Leu845=) c.2412G= (p.Leu804=) | |
19 | g.41970225C>G | CA406038711 | ATP1A3 | c.2541G>C (p.Leu847Phe) c.2502G>C (p.Leu834Phe) c.2535G>C (p.Leu845Phe) c.2412G>C (p.Leu804Phe) | |
19 | g.41970225C>T | CA507694691 | ATP1A3 | c.2541G>A (p.Leu847=) c.2502G>A (p.Leu834=) c.2535G>A (p.Leu845=) c.2412G>A (p.Leu804=) | dbSNP |
19 | g.41970226A>C | CA406038712 | ATP1A3 | c.2540T>G (p.Leu847Trp) c.2501T>G (p.Leu834Trp) c.2534T>G (p.Leu845Trp) c.2411T>G (p.Leu804Trp) | |
19 | g.41970226A>G | CA406038713 | ATP1A3 | c.2540T>C (p.Leu847Ser) c.2501T>C (p.Leu834Ser) c.2534T>C (p.Leu845Ser) c.2411T>C (p.Leu804Ser) | |
19 | g.41970226A>T | CA406038714 | ATP1A3 | c.2540T>A (p.Leu847Ter) c.2501T>A (p.Leu834Ter) c.2534T>A (p.Leu845Ter) c.2411T>A (p.Leu804Ter) | |
19 | g.41970227A= | CA2336721121 | ATP1A3 | c.2539T= (p.Leu847=) c.2500T= (p.Leu834=) c.2533T= (p.Leu845=) c.2410T= (p.Leu804=) | |
19 | g.41970227A>C | CA406038715 | ATP1A3 | c.2539T>G (p.Leu847Val) c.2500T>G (p.Leu834Val) c.2533T>G (p.Leu845Val) c.2410T>G (p.Leu804Val) | |
19 | g.41970227A>G | CA9467368 | ATP1A3 | c.2539T>C (p.Leu847=) c.2500T>C (p.Leu834=) c.2533T>C (p.Leu845=) c.2410T>C (p.Leu804=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970227A>T | CA406038716 | ATP1A3 | c.2539T>A (p.Leu847Met) c.2500T>A (p.Leu834Met) c.2533T>A (p.Leu845Met) c.2410T>A (p.Leu804Met) | |
19 | g.41970228T>A | CA406038717 | ATP1A3 | c.2538A>T (p.Lys846Asn) c.2499A>T (p.Lys833Asn) c.2532A>T (p.Lys844Asn) c.2409A>T (p.Lys803Asn) | |
19 | g.41970228T>C | CA507694695 | ATP1A3 | c.2538A>G (p.Lys846=) c.2499A>G (p.Lys833=) c.2532A>G (p.Lys844=) c.2409A>G (p.Lys803=) | |
19 | g.41970228T>G | CA406038718 | ATP1A3 | c.2538A>C (p.Lys846Asn) c.2499A>C (p.Lys833Asn) c.2532A>C (p.Lys844Asn) c.2409A>C (p.Lys803Asn) | |
19 | g.41970229T>A | CA406038719 | ATP1A3 | c.2537A>T (p.Lys846Ile) c.2498A>T (p.Lys833Ile) c.2531A>T (p.Lys844Ile) c.2408A>T (p.Lys803Ile) | |
19 | g.41970229T>C | CA406038720 | ATP1A3 | c.2537A>G (p.Lys846Arg) c.2498A>G (p.Lys833Arg) c.2531A>G (p.Lys844Arg) c.2408A>G (p.Lys803Arg) | |
19 | g.41970229T>G | CA406038722 | ATP1A3 | c.2537A>C (p.Lys846Thr) c.2498A>C (p.Lys833Thr) c.2531A>C (p.Lys844Thr) c.2408A>C (p.Lys803Thr) |