Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41970310_41970388del | CA2814441549 | ATP1A3 | c.2457+3_2459del c.2418+3_2420del c.2451+3_2453del c.2328+3_2330del | |
19 | g.41970326G>A | CA9467389 | ATP1A3 | c.2458-18C>T (n.2458-18C>T) c.2419-18C>T (n.2419-18C>T) c.2452-18C>T (n.2452-18C>T) c.2329-18C>T (n.2329-18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970326G= | CA2336720803 | ATP1A3 | c.2458-18C= (n.2458-18C=) c.2419-18C= (n.2419-18C=) c.2452-18C= (n.2452-18C=) c.2329-18C= (n.2329-18C=) | |
19 | g.41970327G>A | CA2336720805 | ATP1A3 | c.2458-19C>T (n.2458-19C>T) c.2419-19C>T (n.2419-19C>T) c.2452-19C>T (n.2452-19C>T) c.2329-19C>T (n.2329-19C>T) | dbSNP gnomAD v4 |
19 | g.41970327G= | CA2336720804 | ATP1A3 | c.2458-19C= (n.2458-19C=) c.2419-19C= (n.2419-19C=) c.2452-19C= (n.2452-19C=) c.2329-19C= (n.2329-19C=) | |
19 | g.41970328T>G | CA2336720807 | ATP1A3 | c.2458-20A>C (n.2458-20A>C) c.2419-20A>C (n.2419-20A>C) c.2452-20A>C (n.2452-20A>C) c.2329-20A>C (n.2329-20A>C) | dbSNP |
19 | g.41970328T= | CA2336720806 | ATP1A3 | c.2458-20A= (n.2458-20A=) c.2419-20A= (n.2419-20A=) c.2452-20A= (n.2452-20A=) c.2329-20A= (n.2329-20A=) | |
19 | g.41970329G>A | CA9467390 | ATP1A3 | c.2458-21C>T (n.2458-21C>T) c.2419-21C>T (n.2419-21C>T) c.2452-21C>T (n.2452-21C>T) c.2329-21C>T (n.2329-21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970329G= | CA2336720810 | ATP1A3 | c.2458-21C= (n.2458-21C=) c.2419-21C= (n.2419-21C=) c.2452-21C= (n.2452-21C=) c.2329-21C= (n.2329-21C=) | |
19 | g.41970331G>A | CA2585368931 | ATP1A3 | c.2458-23C>T (n.2458-23C>T) c.2419-23C>T (n.2419-23C>T) c.2452-23C>T (n.2452-23C>T) c.2329-23C>T (n.2329-23C>T) | gnomAD v4 |
19 | g.41970333C>A | CA633471486 | ATP1A3 | c.2458-25G>T (n.2458-25G>T) c.2419-25G>T (n.2419-25G>T) c.2452-25G>T (n.2452-25G>T) c.2329-25G>T (n.2329-25G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41970333C= | CA2336720811 | ATP1A3 | c.2458-25G= (n.2458-25G=) c.2419-25G= (n.2419-25G=) c.2452-25G= (n.2452-25G=) c.2329-25G= (n.2329-25G=) | |
19 | g.41970333C>G | CA2585368932 | ATP1A3 | c.2458-25G>C (n.2458-25G>C) c.2419-25G>C (n.2419-25G>C) c.2452-25G>C (n.2452-25G>C) c.2329-25G>C (n.2329-25G>C) | gnomAD v4 |
19 | g.41970333C>T | CA9467391 | ATP1A3 | c.2458-25G>A (n.2458-25G>A) c.2419-25G>A (n.2419-25G>A) c.2452-25G>A (n.2452-25G>A) c.2329-25G>A (n.2329-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970334G>A | CA9467392 | ATP1A3 | c.2458-26C>T (n.2458-26C>T) c.2419-26C>T (n.2419-26C>T) c.2452-26C>T (n.2452-26C>T) c.2329-26C>T (n.2329-26C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970334G= | CA2336720812 | ATP1A3 | c.2458-26C= (n.2458-26C=) c.2419-26C= (n.2419-26C=) c.2452-26C= (n.2452-26C=) c.2329-26C= (n.2329-26C=) | |
19 | g.41970334G>T | CA2585368933 | ATP1A3 | c.2458-26C>A (n.2458-26C>A) c.2419-26C>A (n.2419-26C>A) c.2452-26C>A (n.2452-26C>A) c.2329-26C>A (n.2329-26C>A) | gnomAD v4 |
19 | g.41970335G>C | CA9467393 | ATP1A3 | c.2458-27C>G (n.2458-27C>G) c.2419-27C>G (n.2419-27C>G) c.2452-27C>G (n.2452-27C>G) c.2329-27C>G (n.2329-27C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970335G= | CA2336720813 | ATP1A3 | c.2458-27C= (n.2458-27C=) c.2419-27C= (n.2419-27C=) c.2452-27C= (n.2452-27C=) c.2329-27C= (n.2329-27C=) | |
19 | g.41970336A>G | CA2585368934 | ATP1A3 | c.2458-28T>C (n.2458-28T>C) c.2419-28T>C (n.2419-28T>C) c.2452-28T>C (n.2452-28T>C) c.2329-28T>C (n.2329-28T>C) | gnomAD v4 |
19 | g.41970337G>A | CA633471487 | ATP1A3 | c.2458-29C>T (n.2458-29C>T) c.2419-29C>T (n.2419-29C>T) c.2452-29C>T (n.2452-29C>T) c.2329-29C>T (n.2329-29C>T) | dbSNP gnomAD v2 |
19 | g.41970337G= | CA2336720815 | ATP1A3 | c.2458-29C= (n.2458-29C=) c.2419-29C= (n.2419-29C=) c.2452-29C= (n.2452-29C=) c.2329-29C= (n.2329-29C=) | |
19 | g.41970338del | CA2576797076 | ATP1A3 | c.2458-30del (n.2458-30del) c.2419-30del (n.2419-30del) c.2452-30del (n.2452-30del) c.2329-30del (n.2329-30del) | |
19 | g.41970338A>G | CA2576797077 | ATP1A3 | c.2458-30T>C (n.2458-30T>C) c.2419-30T>C (n.2419-30T>C) c.2452-30T>C (n.2452-30T>C) c.2329-30T>C (n.2329-30T>C) | |
19 | g.41970339G= | CA2336720816 | ATP1A3 | c.2458-31C= (n.2458-31C=) c.2419-31C= (n.2419-31C=) c.2452-31C= (n.2452-31C=) c.2329-31C= (n.2329-31C=) | |
19 | g.41970339G>T | CA633471488 | ATP1A3 | c.2458-31C>A (n.2458-31C>A) c.2419-31C>A (n.2419-31C>A) c.2452-31C>A (n.2452-31C>A) c.2329-31C>A (n.2329-31C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41970340G>A | CA2585368935 | ATP1A3 | c.2458-32C>T (n.2458-32C>T) c.2419-32C>T (n.2419-32C>T) c.2452-32C>T (n.2452-32C>T) c.2329-32C>T (n.2329-32C>T) | gnomAD v4 |
19 | g.41970341G>T | CA2585368936 | ATP1A3 | c.2458-33C>A (n.2458-33C>A) c.2419-33C>A (n.2419-33C>A) c.2452-33C>A (n.2452-33C>A) c.2329-33C>A (n.2329-33C>A) | gnomAD v4 |
19 | g.41970342G>A | CA2585368937 | ATP1A3 | c.2458-34C>T (n.2458-34C>T) c.2419-34C>T (n.2419-34C>T) c.2452-34C>T (n.2452-34C>T) c.2329-34C>T (n.2329-34C>T) | gnomAD v4 |
19 | g.41970343A= | CA2336720818 | ATP1A3 | c.2458-35T= (n.2458-35T=) c.2419-35T= (n.2419-35T=) c.2452-35T= (n.2452-35T=) c.2329-35T= (n.2329-35T=) | |
19 | g.41970343A>G | CA9467394 | ATP1A3 | c.2458-35T>C (n.2458-35T>C) c.2419-35T>C (n.2419-35T>C) c.2452-35T>C (n.2452-35T>C) c.2329-35T>C (n.2329-35T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970347C>A | CA996017804 | ATP1A3 | c.2458-39G>T (n.2458-39G>T) c.2419-39G>T (n.2419-39G>T) c.2452-39G>T (n.2452-39G>T) c.2329-39G>T (n.2329-39G>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41970347C= | CA2336720819 | ATP1A3 | c.2458-39G= (n.2458-39G=) c.2419-39G= (n.2419-39G=) c.2452-39G= (n.2452-39G=) c.2329-39G= (n.2329-39G=) | |
19 | g.41970347C>G | CA9467395 | ATP1A3 | c.2458-39G>C (n.2458-39G>C) c.2419-39G>C (n.2419-39G>C) c.2452-39G>C (n.2452-39G>C) c.2329-39G>C (n.2329-39G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970348T>C | CA882382244 | ATP1A3 | c.2458-40A>G (n.2458-40A>G) c.2419-40A>G (n.2419-40A>G) c.2452-40A>G (n.2452-40A>G) c.2329-40A>G (n.2329-40A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41970348T= | CA2336720821 | ATP1A3 | c.2458-40A= (n.2458-40A=) c.2419-40A= (n.2419-40A=) c.2452-40A= (n.2452-40A=) c.2329-40A= (n.2329-40A=) | |
19 | g.41970349C= | CA2336720822 | ATP1A3 | c.2457+39G= (n.2457+39G=) c.2418+39G= (n.2418+39G=) c.2451+39G= (n.2451+39G=) c.2328+39G= (n.2328+39G=) | |
19 | g.41970349C>G | CA633471489 | ATP1A3 | c.2457+39G>C (n.2457+39G>C) c.2418+39G>C (n.2418+39G>C) c.2451+39G>C (n.2451+39G>C) c.2328+39G>C (n.2328+39G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970349C>T | CA2336720823 | ATP1A3 | c.2457+39G>A (n.2457+39G>A) c.2418+39G>A (n.2418+39G>A) c.2451+39G>A (n.2451+39G>A) c.2328+39G>A (n.2328+39G>A) | dbSNP gnomAD v4 |
19 | g.41970350C>T | CA2585368938 | ATP1A3 | c.2457+38G>A (n.2457+38G>A) c.2418+38G>A (n.2418+38G>A) c.2451+38G>A (n.2451+38G>A) c.2328+38G>A (n.2328+38G>A) | gnomAD v4 |
19 | g.41970350_41970351insTCCGCCAGGAGG | CA2582171066 | ATP1A3 | c.2457+37_2457+38insCCTCCTGGCGGA (n.2457+37_2457+38insCCTCCTGGCGGA) c.2418+37_2418+38insCCTCCTGGCGGA (n.2418+37_2418+38insCCTCCTGGCGGA) c.2451+37_2451+38insCCTCCTGGCGGA (n.2451+37_2451+38insCCTCCTGGCGGA) c.2328+37_2328+38insCCTCCTGGCGGA (n.2328+37_2328+38insCCTCCTGGCGGA) | gnomAD v3 gnomAD v4 |
19 | g.41970351_41970352delinsAC | CA2336720824 | ATP1A3 | c.2457+36_2457+37delinsGT (n.2457+36_2457+37delinsGT) c.2418+36_2418+37delinsGT (n.2418+36_2418+37delinsGT) c.2451+36_2451+37delinsGT (n.2451+36_2451+37delinsGT) c.2328+36_2328+37delinsGT (n.2328+36_2328+37delinsGT) | |
19 | g.41970352C= | CA2336720827 | ATP1A3 | c.2457+36G= (n.2457+36G=) c.2418+36G= (n.2418+36G=) c.2451+36G= (n.2451+36G=) c.2328+36G= (n.2328+36G=) | |
19 | g.41970352C>G | CA2336720828 | ATP1A3 | c.2457+36G>C (n.2457+36G>C) c.2418+36G>C (n.2418+36G>C) c.2451+36G>C (n.2451+36G>C) c.2328+36G>C (n.2328+36G>C) | dbSNP |
19 | g.41970352C>T | CA9467397 | ATP1A3 | c.2457+36G>A (n.2457+36G>A) c.2418+36G>A (n.2418+36G>A) c.2451+36G>A (n.2451+36G>A) c.2328+36G>A (n.2328+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970354del | CA9467396 | ATP1A3 | c.2457+36del (n.2457+36del) c.2418+36del (n.2418+36del) c.2451+36del (n.2451+36del) c.2328+36del (n.2328+36del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970352_41970353insT | CA2582171067 | ATP1A3 | c.2457+35_2457+36insA (n.2457+35_2457+36insA) c.2418+35_2418+36insA (n.2418+35_2418+36insA) c.2451+35_2451+36insA (n.2451+35_2451+36insA) c.2328+35_2328+36insA (n.2328+35_2328+36insA) | gnomAD v3 gnomAD v4 |
19 | g.41970353C= | CA2336720830 | ATP1A3 | c.2457+35G= (n.2457+35G=) c.2418+35G= (n.2418+35G=) c.2451+35G= (n.2451+35G=) c.2328+35G= (n.2328+35G=) | |
19 | g.41970353C>T | CA9467398 | ATP1A3 | c.2457+35G>A (n.2457+35G>A) c.2418+35G>A (n.2418+35G>A) c.2451+35G>A (n.2451+35G>A) c.2328+35G>A (n.2328+35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970354C>A | CA9467399 | ATP1A3 | c.2457+34G>T (n.2457+34G>T) c.2418+34G>T (n.2418+34G>T) c.2451+34G>T (n.2451+34G>T) c.2328+34G>T (n.2328+34G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970354C= | CA2336720832 | ATP1A3 | c.2457+34G= (n.2457+34G=) c.2418+34G= (n.2418+34G=) c.2451+34G= (n.2451+34G=) c.2328+34G= (n.2328+34G=) | |
19 | g.41970356C= | CA2336720834 | ATP1A3 | c.2457+32G= (n.2457+32G=) c.2418+32G= (n.2418+32G=) c.2451+32G= (n.2451+32G=) c.2328+32G= (n.2328+32G=) | |
19 | g.41970356C>T | CA633471503 | ATP1A3 | c.2457+32G>A (n.2457+32G>A) c.2418+32G>A (n.2418+32G>A) c.2451+32G>A (n.2451+32G>A) c.2328+32G>A (n.2328+32G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970359G>A | CA308586459 | ATP1A3 | c.2457+29C>T (n.2457+29C>T) c.2418+29C>T (n.2418+29C>T) c.2451+29C>T (n.2451+29C>T) c.2328+29C>T (n.2328+29C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41970359G= | CA2336720836 | ATP1A3 | c.2457+29C= (n.2457+29C=) c.2418+29C= (n.2418+29C=) c.2451+29C= (n.2451+29C=) c.2328+29C= (n.2328+29C=) | |
19 | g.41970360G>A | CA9467400 | ATP1A3 | c.2457+28C>T (n.2457+28C>T) c.2418+28C>T (n.2418+28C>T) c.2451+28C>T (n.2451+28C>T) c.2328+28C>T (n.2328+28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970360G= | CA2336720837 | ATP1A3 | c.2457+28C= (n.2457+28C=) c.2418+28C= (n.2418+28C=) c.2451+28C= (n.2451+28C=) c.2328+28C= (n.2328+28C=) | |
19 | g.41970361G>A | CA633471504 | ATP1A3 | c.2457+27C>T (n.2457+27C>T) c.2418+27C>T (n.2418+27C>T) c.2451+27C>T (n.2451+27C>T) c.2328+27C>T (n.2328+27C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970361G= | CA2336720839 | ATP1A3 | c.2457+27C= (n.2457+27C=) c.2418+27C= (n.2418+27C=) c.2451+27C= (n.2451+27C=) c.2328+27C= (n.2328+27C=) | |
19 | g.41970362C>T | CA2585368939 | ATP1A3 | c.2457+26G>A (n.2457+26G>A) c.2418+26G>A (n.2418+26G>A) c.2451+26G>A (n.2451+26G>A) c.2328+26G>A (n.2328+26G>A) | gnomAD v4 |
19 | g.41970364C>A | CA9467401 | ATP1A3 | c.2457+24G>T (n.2457+24G>T) c.2418+24G>T (n.2418+24G>T) c.2451+24G>T (n.2451+24G>T) c.2328+24G>T (n.2328+24G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970364C= | CA2336720842 | ATP1A3 | c.2457+24G= (n.2457+24G=) c.2418+24G= (n.2418+24G=) c.2451+24G= (n.2451+24G=) c.2328+24G= (n.2328+24G=) | |
19 | g.41970364C>T | CA633471505 | ATP1A3 | c.2457+24G>A (n.2457+24G>A) c.2418+24G>A (n.2418+24G>A) c.2451+24G>A (n.2451+24G>A) c.2328+24G>A (n.2328+24G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41970365C= | CA2336720845 | ATP1A3 | c.2457+23G= (n.2457+23G=) c.2418+23G= (n.2418+23G=) c.2451+23G= (n.2451+23G=) c.2328+23G= (n.2328+23G=) | |
19 | g.41970365C>T | CA2336720844 | ATP1A3 | c.2457+23G>A (n.2457+23G>A) c.2418+23G>A (n.2418+23G>A) c.2451+23G>A (n.2451+23G>A) c.2328+23G>A (n.2328+23G>A) | dbSNP |
19 | g.41970366A= | CA2336720846 | ATP1A3 | c.2457+22T= (n.2457+22T=) c.2418+22T= (n.2418+22T=) c.2451+22T= (n.2451+22T=) c.2328+22T= (n.2328+22T=) | |
19 | g.41970366A>G | CA2576797078 | ATP1A3 | c.2457+22T>C (n.2457+22T>C) c.2418+22T>C (n.2418+22T>C) c.2451+22T>C (n.2451+22T>C) c.2328+22T>C (n.2328+22T>C) | |
19 | g.41970366A>T | CA2336720847 | ATP1A3 | c.2457+22T>A (n.2457+22T>A) c.2418+22T>A (n.2418+22T>A) c.2451+22T>A (n.2451+22T>A) c.2328+22T>A (n.2328+22T>A) | dbSNP |
19 | g.41970367A= | CA2336720852 | ATP1A3 | c.2457+21T= (n.2457+21T=) c.2418+21T= (n.2418+21T=) c.2451+21T= (n.2451+21T=) c.2328+21T= (n.2328+21T=) | |
19 | g.41970367A>C | CA2585368940 | ATP1A3 | c.2457+21T>G (n.2457+21T>G) c.2418+21T>G (n.2418+21T>G) c.2451+21T>G (n.2451+21T>G) c.2328+21T>G (n.2328+21T>G) | gnomAD v4 |
19 | g.41970367A>G | CA9467402 | ATP1A3 | c.2457+21T>C (n.2457+21T>C) c.2418+21T>C (n.2418+21T>C) c.2451+21T>C (n.2451+21T>C) c.2328+21T>C (n.2328+21T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970367_41970368delinsAG | CA2336720850 | ATP1A3 | c.2457+20_2457+21delinsCT (n.2457+20_2457+21delinsCT) c.2418+20_2418+21delinsCT (n.2418+20_2418+21delinsCT) c.2451+20_2451+21delinsCT (n.2451+20_2451+21delinsCT) c.2328+20_2328+21delinsCT (n.2328+20_2328+21delinsCT) | |
19 | g.41970370del | CA9467403 | ATP1A3 | c.2457+20del (n.2457+20del) c.2418+20del (n.2418+20del) c.2451+20del (n.2451+20del) c.2328+20del (n.2328+20del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970369G>A | CA2585368941 | ATP1A3 | c.2457+19C>T (n.2457+19C>T) c.2418+19C>T (n.2418+19C>T) c.2451+19C>T (n.2451+19C>T) c.2328+19C>T (n.2328+19C>T) | gnomAD v4 |
19 | g.41970369G= | CA2336720854 | ATP1A3 | c.2457+19C= (n.2457+19C=) c.2418+19C= (n.2418+19C=) c.2451+19C= (n.2451+19C=) c.2328+19C= (n.2328+19C=) | |
19 | g.41970369G>T | CA2336720856 | ATP1A3 | c.2457+19C>A (n.2457+19C>A) c.2418+19C>A (n.2418+19C>A) c.2451+19C>A (n.2451+19C>A) c.2328+19C>A (n.2328+19C>A) | ClinVar dbSNP gnomAD v4 |
19 | g.41970370G>A | CA9467404 | ATP1A3 | c.2457+18C>T (n.2457+18C>T) c.2418+18C>T (n.2418+18C>T) c.2451+18C>T (n.2451+18C>T) c.2328+18C>T (n.2328+18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970370G= | CA2336720857 | ATP1A3 | c.2457+18C= (n.2457+18C=) c.2418+18C= (n.2418+18C=) c.2451+18C= (n.2451+18C=) c.2328+18C= (n.2328+18C=) | |
19 | g.41970372G>A | CA2573156416 | ATP1A3 | c.2457+16C>T (n.2457+16C>T) c.2418+16C>T (n.2418+16C>T) c.2451+16C>T (n.2451+16C>T) c.2328+16C>T (n.2328+16C>T) | ClinVar dbSNP gnomAD v4 |
19 | g.41970373G>A | CA2585368942 | ATP1A3 | c.2457+15C>T (n.2457+15C>T) c.2418+15C>T (n.2418+15C>T) c.2451+15C>T (n.2451+15C>T) c.2328+15C>T (n.2328+15C>T) | gnomAD v4 |
19 | g.41970374C= | CA2336720859 | ATP1A3 | c.2457+14G= (n.2457+14G=) c.2418+14G= (n.2418+14G=) c.2451+14G= (n.2451+14G=) c.2328+14G= (n.2328+14G=) | |
19 | g.41970374C>T | CA2336720860 | ATP1A3 | c.2457+14G>A (n.2457+14G>A) c.2418+14G>A (n.2418+14G>A) c.2451+14G>A (n.2451+14G>A) c.2328+14G>A (n.2328+14G>A) | dbSNP |
19 | g.41970375T>A | CA9467405 | ATP1A3 | c.2457+13A>T (n.2457+13A>T) c.2418+13A>T (n.2418+13A>T) c.2451+13A>T (n.2451+13A>T) c.2328+13A>T (n.2328+13A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970375T>C | CA2814441590 | ATP1A3 | c.2457+13A>G (n.2457+13A>G) c.2418+13A>G (n.2418+13A>G) c.2451+13A>G (n.2451+13A>G) c.2328+13A>G (n.2328+13A>G) | |
19 | g.41970375T= | CA2336720862 | ATP1A3 | c.2457+13A= (n.2457+13A=) c.2418+13A= (n.2418+13A=) c.2451+13A= (n.2451+13A=) c.2328+13A= (n.2328+13A=) | |
19 | g.41970376G= | CA2336720865 | ATP1A3 | c.2457+12C= (n.2457+12C=) c.2418+12C= (n.2418+12C=) c.2451+12C= (n.2451+12C=) c.2328+12C= (n.2328+12C=) | |
19 | g.41970376G>T | CA633471506 | ATP1A3 | c.2457+12C>A (n.2457+12C>A) c.2418+12C>A (n.2418+12C>A) c.2451+12C>A (n.2451+12C>A) c.2328+12C>A (n.2328+12C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41970378C>A | CA9467406 | ATP1A3 | c.2457+10G>T (n.2457+10G>T) c.2418+10G>T (n.2418+10G>T) c.2451+10G>T (n.2451+10G>T) c.2328+10G>T (n.2328+10G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970378C= | CA2336720867 | ATP1A3 | c.2457+10G= (n.2457+10G=) c.2418+10G= (n.2418+10G=) c.2451+10G= (n.2451+10G=) c.2328+10G= (n.2328+10G=) | |
19 | g.41970379A= | CA2336720870 | ATP1A3 | c.2457+9T= (n.2457+9T=) c.2418+9T= (n.2418+9T=) c.2451+9T= (n.2451+9T=) c.2328+9T= (n.2328+9T=) | |
19 | g.41970379A>C | CA882382256 | ATP1A3 | c.2457+9T>G (n.2457+9T>G) c.2418+9T>G (n.2418+9T>G) c.2451+9T>G (n.2451+9T>G) c.2328+9T>G (n.2328+9T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41970379A>G | CA2585368943 | ATP1A3 | c.2457+9T>C (n.2457+9T>C) c.2418+9T>C (n.2418+9T>C) c.2451+9T>C (n.2451+9T>C) c.2328+9T>C (n.2328+9T>C) | gnomAD v4 |
19 | g.41970379A>T | CA308586479 | ATP1A3 | c.2457+9T>A (n.2457+9T>A) c.2418+9T>A (n.2418+9T>A) c.2451+9T>A (n.2451+9T>A) c.2328+9T>A (n.2328+9T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970380G>A | CA2576797079 | ATP1A3 | c.2457+8C>T (n.2457+8C>T) c.2418+8C>T (n.2418+8C>T) c.2451+8C>T (n.2451+8C>T) c.2328+8C>T (n.2328+8C>T) | ClinVar gnomAD v4 |
19 | g.41970380G>T | CA2585368944 | ATP1A3 | c.2457+8C>A (n.2457+8C>A) c.2418+8C>A (n.2418+8C>A) c.2451+8C>A (n.2451+8C>A) c.2328+8C>A (n.2328+8C>A) | gnomAD v4 |
19 | g.41970381G>C | CA2585368945 | ATP1A3 | c.2457+7C>G (n.2457+7C>G) c.2418+7C>G (n.2418+7C>G) c.2451+7C>G (n.2451+7C>G) c.2328+7C>G (n.2328+7C>G) | gnomAD v4 |
19 | g.41970381G= | CA2336720874 | ATP1A3 | c.2457+7C= (n.2457+7C=) c.2418+7C= (n.2418+7C=) c.2451+7C= (n.2451+7C=) c.2328+7C= (n.2328+7C=) | |
19 | g.41970381G>T | CA9467407 | ATP1A3 | c.2457+7C>A (n.2457+7C>A) c.2418+7C>A (n.2418+7C>A) c.2451+7C>A (n.2451+7C>A) c.2328+7C>A (n.2328+7C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970382G>T | CA2585368946 | ATP1A3 | c.2457+6C>A (n.2457+6C>A) c.2418+6C>A (n.2418+6C>A) c.2451+6C>A (n.2451+6C>A) c.2328+6C>A (n.2328+6C>A) | gnomAD v4 |
19 | g.41970383C= | CA2336720877 | ATP1A3 | c.2457+5G= (n.2457+5G=) c.2418+5G= (n.2418+5G=) c.2451+5G= (n.2451+5G=) c.2328+5G= (n.2328+5G=) | |
19 | g.41970383C>T | CA882382261 | ATP1A3 | c.2457+5G>A (n.2457+5G>A) c.2418+5G>A (n.2418+5G>A) c.2451+5G>A (n.2451+5G>A) c.2328+5G>A (n.2328+5G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41970385C= | CA2336720880 | ATP1A3 | c.2457+3G= (n.2457+3G=) c.2418+3G= (n.2418+3G=) c.2451+3G= (n.2451+3G=) c.2328+3G= (n.2328+3G=) | |
19 | g.41970385C>T | CA9467408 | ATP1A3 | c.2457+3G>A (n.2457+3G>A) c.2418+3G>A (n.2418+3G>A) c.2451+3G>A (n.2451+3G>A) c.2328+3G>A (n.2328+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970386A>C | CA406039165 | ATP1A3 | c.2457+2T>G (n.2457+2T>G) c.2418+2T>G (n.2418+2T>G) c.2451+2T>G (n.2451+2T>G) c.2328+2T>G (n.2328+2T>G) | |
19 | g.41970386A>G | CA406039167 | ATP1A3 | c.2457+2T>C (n.2457+2T>C) c.2418+2T>C (n.2418+2T>C) c.2451+2T>C (n.2451+2T>C) c.2328+2T>C (n.2328+2T>C) | |
19 | g.41970386A>T | CA406039169 | ATP1A3 | c.2457+2T>A (n.2457+2T>A) c.2418+2T>A (n.2418+2T>A) c.2451+2T>A (n.2451+2T>A) c.2328+2T>A (n.2328+2T>A) | |
19 | g.41970387C>A | CA406039174 | ATP1A3 | c.2457+1G>T (n.2457+1G>T) c.2418+1G>T (n.2418+1G>T) c.2451+1G>T (n.2451+1G>T) c.2328+1G>T (n.2328+1G>T) | |
19 | g.41970387C>G | CA406039179 | ATP1A3 | c.2457+1G>C (n.2457+1G>C) c.2418+1G>C (n.2418+1G>C) c.2451+1G>C (n.2451+1G>C) c.2328+1G>C (n.2328+1G>C) | |
19 | g.41970387C>T | CA406039177 | ATP1A3 | c.2457+1G>A (n.2457+1G>A) c.2418+1G>A (n.2418+1G>A) c.2451+1G>A (n.2451+1G>A) c.2328+1G>A (n.2328+1G>A) | gnomAD v4 |
19 | g.41970388C>A | CA406039182 | ATP1A3 | c.2457G>T (p.Met819Ile) c.2418G>T (p.Met806Ile) c.2451G>T (p.Met817Ile) c.2328G>T (p.Met776Ile) | |
19 | g.41970388C>G | CA406039188 | ATP1A3 | c.2457G>C (p.Met819Ile) c.2418G>C (p.Met806Ile) c.2451G>C (p.Met817Ile) c.2328G>C (p.Met776Ile) | |
19 | g.41970388C>T | CA406039191 | ATP1A3 | c.2457G>A (p.Met819Ile) c.2418G>A (p.Met806Ile) c.2451G>A (p.Met817Ile) c.2328G>A (p.Met776Ile) | |
19 | g.41970389A= | CA2336720886 | ATP1A3 | c.2456T= (p.Met819=) c.2417T= (p.Met806=) c.2450T= (p.Met817=) c.2327T= (p.Met776=) | |
19 | g.41970389A>C | CA346027 | ATP1A3 | c.2456T>G (p.Met819Arg) c.2417T>G (p.Met806Arg) c.2450T>G (p.Met817Arg) c.2327T>G (p.Met776Arg) | ClinVar dbSNP |
19 | g.41970389A>G | CA406039196 | ATP1A3 | c.2456T>C (p.Met819Thr) c.2417T>C (p.Met806Thr) c.2450T>C (p.Met817Thr) c.2327T>C (p.Met776Thr) | |
19 | g.41970389A>T | CA308586497 | ATP1A3 | c.2456T>A (p.Met819Lys) c.2417T>A (p.Met806Lys) c.2450T>A (p.Met817Lys) c.2327T>A (p.Met776Lys) | dbSNP |
19 | g.41970390T>A | CA406039205 | ATP1A3 | c.2455A>T (p.Met819Leu) c.2416A>T (p.Met806Leu) c.2449A>T (p.Met817Leu) c.2326A>T (p.Met776Leu) | |
19 | g.41970390T>C | CA406039201 | ATP1A3 | c.2455A>G (p.Met819Val) c.2416A>G (p.Met806Val) c.2449A>G (p.Met817Val) c.2326A>G (p.Met776Val) | gnomAD v4 |
19 | g.41970390T>G | CA406039202 | ATP1A3 | c.2455A>C (p.Met819Leu) c.2416A>C (p.Met806Leu) c.2449A>C (p.Met817Leu) c.2326A>C (p.Met776Leu) | |
19 | g.41970391G>A | CA507694778 | ATP1A3 | c.2454C>T (p.Asp818=) c.2415C>T (p.Asp805=) c.2448C>T (p.Asp816=) c.2325C>T (p.Asp775=) | dbSNP gnomAD v4 |
19 | g.41970391G>C | CA346025 | ATP1A3 | c.2454C>G (p.Asp818Glu) c.2415C>G (p.Asp805Glu) c.2448C>G (p.Asp816Glu) c.2325C>G (p.Asp775Glu) | ClinVar dbSNP |
19 | g.41970391G= | CA2336720892 | ATP1A3 | c.2454C= (p.Asp818=) c.2415C= (p.Asp805=) c.2448C= (p.Asp816=) c.2325C= (p.Asp775=) | |
19 | g.41970391G>T | CA406039211 | ATP1A3 | c.2454C>A (p.Asp818Glu) c.2415C>A (p.Asp805Glu) c.2448C>A (p.Asp816Glu) c.2325C>A (p.Asp775Glu) | ClinVar dbSNP |
19 | g.41970392T>A | CA406039215 | ATP1A3 | c.2453A>T (p.Asp818Val) c.2414A>T (p.Asp805Val) c.2447A>T (p.Asp816Val) c.2324A>T (p.Asp775Val) | |
19 | g.41970392T>C | CA406039217 | ATP1A3 | c.2453A>G (p.Asp818Gly) c.2414A>G (p.Asp805Gly) c.2447A>G (p.Asp816Gly) c.2324A>G (p.Asp775Gly) | |
19 | g.41970392T>G | CA406039218 | ATP1A3 | c.2453A>C (p.Asp818Ala) c.2414A>C (p.Asp805Ala) c.2447A>C (p.Asp816Ala) c.2324A>C (p.Asp775Ala) | |
19 | g.41970393C>A | CA406039221 | ATP1A3 | c.2452G>T (p.Asp818Tyr) c.2413G>T (p.Asp805Tyr) c.2446G>T (p.Asp816Tyr) c.2323G>T (p.Asp775Tyr) | |
19 | g.41970393C>G | CA406039226 | ATP1A3 | c.2452G>C (p.Asp818His) c.2413G>C (p.Asp805His) c.2446G>C (p.Asp816His) c.2323G>C (p.Asp775His) | |
19 | g.41970393C>T | CA406039224 | ATP1A3 | c.2452G>A (p.Asp818Asn) c.2413G>A (p.Asp805Asn) c.2446G>A (p.Asp816Asn) c.2323G>A (p.Asp775Asn) | |
19 | g.41970394A>C | CA507694779 | ATP1A3 | c.2451T>G (p.Thr817=) c.2412T>G (p.Thr804=) c.2445T>G (p.Thr815=) c.2322T>G (p.Thr774=) | |
19 | g.41970394A>G | CA507694781 | ATP1A3 | c.2451T>C (p.Thr817=) c.2412T>C (p.Thr804=) c.2445T>C (p.Thr815=) c.2322T>C (p.Thr774=) | |
19 | g.41970394A>T | CA507694780 | ATP1A3 | c.2451T>A (p.Thr817=) c.2412T>A (p.Thr804=) c.2445T>A (p.Thr815=) c.2322T>A (p.Thr774=) | |
19 | g.41970395G>A | CA346023 | ATP1A3 | c.2450C>T (p.Thr817Ile) c.2411C>T (p.Thr804Ile) c.2444C>T (p.Thr815Ile) c.2321C>T (p.Thr774Ile) | dbSNP |
19 | g.41970395G>C | CA406039232 | ATP1A3 | c.2450C>G (p.Thr817Ser) c.2411C>G (p.Thr804Ser) c.2444C>G (p.Thr815Ser) c.2321C>G (p.Thr774Ser) | |
19 | g.41970395G= | CA2336720896 | ATP1A3 | c.2450C= (p.Thr817=) c.2411C= (p.Thr804=) c.2444C= (p.Thr815=) c.2321C= (p.Thr774=) | |
19 | g.41970395G>T | CA406039235 | ATP1A3 | c.2450C>A (p.Thr817Asn) c.2411C>A (p.Thr804Asn) c.2444C>A (p.Thr815Asn) c.2321C>A (p.Thr774Asn) | |
19 | g.41970396T>A | CA406039240 | ATP1A3 | c.2449A>T (p.Thr817Ser) c.2410A>T (p.Thr804Ser) c.2443A>T (p.Thr815Ser) c.2320A>T (p.Thr774Ser) | |
19 | g.41970396T>C | CA406039241 | ATP1A3 | c.2449A>G (p.Thr817Ala) c.2410A>G (p.Thr804Ala) c.2443A>G (p.Thr815Ala) c.2320A>G (p.Thr774Ala) | |
19 | g.41970396T>G | CA406039244 | ATP1A3 | c.2449A>C (p.Thr817Pro) c.2410A>C (p.Thr804Pro) c.2443A>C (p.Thr815Pro) c.2320A>C (p.Thr774Pro) | |
19 | g.41970397G>A | CA9467409 | ATP1A3 | c.2448C>T (p.Gly816=) c.2409C>T (p.Gly803=) c.2442C>T (p.Gly814=) c.2319C>T (p.Gly773=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970397G>C | CA507694782 | ATP1A3 | c.2448C>G (p.Gly816=) c.2409C>G (p.Gly803=) c.2442C>G (p.Gly814=) c.2319C>G (p.Gly773=) | |
19 | g.41970397G= | CA2336720899 | ATP1A3 | c.2448C= (p.Gly816=) c.2409C= (p.Gly803=) c.2442C= (p.Gly814=) c.2319C= (p.Gly773=) | |
19 | g.41970397G>T | CA507694783 | ATP1A3 | c.2448C>A (p.Gly816=) c.2409C>A (p.Gly803=) c.2442C>A (p.Gly814=) c.2319C>A (p.Gly773=) | |
19 | g.41970398C>A | CA406039249 | ATP1A3 | c.2447G>T (p.Gly816Val) c.2408G>T (p.Gly803Val) c.2441G>T (p.Gly814Val) c.2318G>T (p.Gly773Val) | |
19 | g.41970398C= | CA2336720902 | ATP1A3 | c.2447G= (p.Gly816=) c.2408G= (p.Gly803=) c.2441G= (p.Gly814=) c.2318G= (p.Gly773=) | |
19 | g.41970398C>G | CA406039250 | ATP1A3 | c.2447G>C (p.Gly816Ala) c.2408G>C (p.Gly803Ala) c.2441G>C (p.Gly814Ala) c.2318G>C (p.Gly773Ala) | |
19 | g.41970398C>T | CA406039252 | ATP1A3 | c.2447G>A (p.Gly816Asp) c.2408G>A (p.Gly803Asp) c.2441G>A (p.Gly814Asp) c.2318G>A (p.Gly773Asp) | ClinVar dbSNP COSMIC |
19 | g.41970399C>A | CA406039256 | ATP1A3 | c.2446G>T (p.Gly816Cys) c.2407G>T (p.Gly803Cys) c.2440G>T (p.Gly814Cys) c.2317G>T (p.Gly773Cys) | |
19 | g.41970399C= | CA2336720909 | ATP1A3 | c.2446G= (p.Gly816=) c.2407G= (p.Gly803=) c.2440G= (p.Gly814=) c.2317G= (p.Gly773=) | |
19 | g.41970399C>G | CA406039255 | ATP1A3 | c.2446G>C (p.Gly816Arg) c.2407G>C (p.Gly803Arg) c.2440G>C (p.Gly814Arg) c.2317G>C (p.Gly773Arg) | ClinVar dbSNP |
19 | g.41970399C>T | CA406039254 | ATP1A3 | c.2446G>A (p.Gly816Ser) c.2407G>A (p.Gly803Ser) c.2440G>A (p.Gly814Ser) c.2317G>A (p.Gly773Ser) | ClinVar dbSNP COSMIC |
19 | g.41970400C>A | CA507694784 | ATP1A3 | c.2445G>T (p.Leu815=) c.2406G>T (p.Leu802=) c.2439G>T (p.Leu813=) c.2316G>T (p.Leu772=) | |
19 | g.41970400C= | CA2336720912 | ATP1A3 | c.2445G= (p.Leu815=) c.2406G= (p.Leu802=) c.2439G= (p.Leu813=) c.2316G= (p.Leu772=) | |
19 | g.41970400C>G | CA507694786 | ATP1A3 | c.2445G>C (p.Leu815=) c.2406G>C (p.Leu802=) c.2439G>C (p.Leu813=) c.2316G>C (p.Leu772=) | |
19 | g.41970400C>T | CA507694787 | ATP1A3 | c.2445G>A (p.Leu815=) c.2406G>A (p.Leu802=) c.2439G>A (p.Leu813=) c.2316G>A (p.Leu772=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41970401A>C | CA406039257 | ATP1A3 | c.2444T>G (p.Leu815Arg) c.2405T>G (p.Leu802Arg) c.2438T>G (p.Leu813Arg) c.2315T>G (p.Leu772Arg) | |
19 | g.41970401A>G | CA406039261 | ATP1A3 | c.2444T>C (p.Leu815Pro) c.2405T>C (p.Leu802Pro) c.2438T>C (p.Leu813Pro) c.2315T>C (p.Leu772Pro) | |
19 | g.41970401A>T | CA406039258 | ATP1A3 | c.2444T>A (p.Leu815Gln) c.2405T>A (p.Leu802Gln) c.2438T>A (p.Leu813Gln) c.2315T>A (p.Leu772Gln) | |
19 | g.41970402G>A | CA507694788 | ATP1A3 | c.2443C>T (p.Leu815=) c.2404C>T (p.Leu802=) c.2437C>T (p.Leu813=) c.2314C>T (p.Leu772=) | |
19 | g.41970402G>C | CA406039272 | ATP1A3 | c.2443C>G (p.Leu815Val) c.2404C>G (p.Leu802Val) c.2437C>G (p.Leu813Val) c.2314C>G (p.Leu772Val) | |
19 | g.41970402G>T | CA406039274 | ATP1A3 | c.2443C>A (p.Leu815Met) c.2404C>A (p.Leu802Met) c.2437C>A (p.Leu813Met) c.2314C>A (p.Leu772Met) | |
19 | g.41970403A= | CA2336720913 | ATP1A3 | c.2442T= (p.Asp814=) c.2403T= (p.Asp801=) c.2436T= (p.Asp812=) c.2313T= (p.Asp771=) | |
19 | g.41970403A>C | CA406039276 | ATP1A3 | c.2442T>G (p.Asp814Glu) c.2403T>G (p.Asp801Glu) c.2436T>G (p.Asp812Glu) c.2313T>G (p.Asp771Glu) | |
19 | g.41970403A>G | CA507694789 | ATP1A3 | c.2442T>C (p.Asp814=) c.2403T>C (p.Asp801=) c.2436T>C (p.Asp812=) c.2313T>C (p.Asp771=) | dbSNP |
19 | g.41970403A>T | CA406039278 | ATP1A3 | c.2442T>A (p.Asp814Glu) c.2403T>A (p.Asp801Glu) c.2436T>A (p.Asp812Glu) c.2313T>A (p.Asp771Glu) | ClinVar dbSNP |
19 | g.41970404T>A | CA406039282 | ATP1A3 | c.2441A>T (p.Asp814Val) c.2402A>T (p.Asp801Val) c.2435A>T (p.Asp812Val) c.2312A>T (p.Asp771Val) | |
19 | g.41970404T>C | CA406039285 | ATP1A3 | c.2441A>G (p.Asp814Gly) c.2402A>G (p.Asp801Gly) c.2435A>G (p.Asp812Gly) c.2312A>G (p.Asp771Gly) | |
19 | g.41970404T>G | CA406039286 | ATP1A3 | c.2441A>C (p.Asp814Ala) c.2402A>C (p.Asp801Ala) c.2435A>C (p.Asp812Ala) c.2312A>C (p.Asp771Ala) | |
19 | g.41970405C>A | CA341238 | ATP1A3 | c.2440G>T (p.Asp814Tyr) c.2401G>T (p.Asp801Tyr) c.2434G>T (p.Asp812Tyr) c.2311G>T (p.Asp771Tyr) | ClinVar dbSNP |
19 | g.41970405C= | CA2336720927 | ATP1A3 | c.2440G= (p.Asp814=) c.2401G= (p.Asp801=) c.2434G= (p.Asp812=) c.2311G= (p.Asp771=) | |
19 | g.41970405C>G | CA207845 | ATP1A3 | c.2440G>C (p.Asp814His) c.2401G>C (p.Asp801His) c.2434G>C (p.Asp812His) c.2311G>C (p.Asp771His) | ClinVar dbSNP |
19 | g.41970405C>T | CA342902 | ATP1A3 | c.2440G>A (p.Asp814Asn) c.2401G>A (p.Asp801Asn) c.2434G>A (p.Asp812Asn) c.2311G>A (p.Asp771Asn) | ClinVar dbSNP COSMIC |
19 | g.41970406G>A | CA9467410 | ATP1A3 | c.2439C>T (p.Ile813=) c.2400C>T (p.Ile800=) c.2433C>T (p.Ile811=) c.2310C>T (p.Ile770=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.41970406G>C | CA406039295 | ATP1A3 | c.2439C>G (p.Ile813Met) c.2400C>G (p.Ile800Met) c.2433C>G (p.Ile811Met) c.2310C>G (p.Ile770Met) | |
19 | g.41970406G= | CA2336720929 | ATP1A3 | c.2439C= (p.Ile813=) c.2400C= (p.Ile800=) c.2433C= (p.Ile811=) c.2310C= (p.Ile770=) | |
19 | g.41970406G>T | CA507694790 | ATP1A3 | c.2439C>A (p.Ile813=) c.2400C>A (p.Ile800=) c.2433C>A (p.Ile811=) c.2310C>A (p.Ile770=) | |
19 | g.41970407A>C | CA406039298 | ATP1A3 | c.2438T>G (p.Ile813Ser) c.2399T>G (p.Ile800Ser) c.2432T>G (p.Ile811Ser) c.2309T>G (p.Ile770Ser) | |
19 | g.41970407A>G | CA406039301 | ATP1A3 | c.2438T>C (p.Ile813Thr) c.2399T>C (p.Ile800Thr) c.2432T>C (p.Ile811Thr) c.2309T>C (p.Ile770Thr) | |
19 | g.41970407A>T | CA406039303 | ATP1A3 | c.2438T>A (p.Ile813Asn) c.2399T>A (p.Ile800Asn) c.2432T>A (p.Ile811Asn) c.2309T>A (p.Ile770Asn) | |
19 | g.41970408T>A | CA406039308 | ATP1A3 | c.2437A>T (p.Ile813Phe) c.2398A>T (p.Ile800Phe) c.2431A>T (p.Ile811Phe) c.2308A>T (p.Ile770Phe) | |
19 | g.41970408T>C | CA406039311 | ATP1A3 | c.2437A>G (p.Ile813Val) c.2398A>G (p.Ile800Val) c.2431A>G (p.Ile811Val) c.2308A>G (p.Ile770Val) | |
19 | g.41970408T>G | CA406039309 | ATP1A3 | c.2437A>C (p.Ile813Leu) c.2398A>C (p.Ile800Leu) c.2431A>C (p.Ile811Leu) c.2308A>C (p.Ile770Leu) | |
19 | g.41970409G>A | CA507694791 | ATP1A3 | c.2436C>T (p.Cys812=) c.2397C>T (p.Cys799=) c.2430C>T (p.Cys810=) c.2307C>T (p.Cys769=) | |
19 | g.41970409G>C | CA406039313 | ATP1A3 | c.2436C>G (p.Cys812Trp) c.2397C>G (p.Cys799Trp) c.2430C>G (p.Cys810Trp) c.2307C>G (p.Cys769Trp) | |
19 | g.41970409G>T | CA406039315 | ATP1A3 | c.2436C>A (p.Cys812Ter) c.2397C>A (p.Cys799Ter) c.2430C>A (p.Cys810Ter) c.2307C>A (p.Cys769Ter) | |
19 | g.41970410C>A | CA406039318 | ATP1A3 | c.2435G>T (p.Cys812Phe) c.2396G>T (p.Cys799Phe) c.2429G>T (p.Cys810Phe) c.2306G>T (p.Cys769Phe) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41970410C= | CA2336720933 | ATP1A3 | c.2435G= (p.Cys812=) c.2396G= (p.Cys799=) c.2429G= (p.Cys810=) c.2306G= (p.Cys769=) | |
19 | g.41970410C>G | CA406039321 | ATP1A3 | c.2435G>C (p.Cys812Ser) c.2396G>C (p.Cys799Ser) c.2429G>C (p.Cys810Ser) c.2306G>C (p.Cys769Ser) | |
19 | g.41970410C>T | CA406039323 | ATP1A3 | c.2435G>A (p.Cys812Tyr) c.2396G>A (p.Cys799Tyr) c.2429G>A (p.Cys810Tyr) c.2306G>A (p.Cys769Tyr) | dbSNP |
19 | g.41970411A>C | CA406039327 | ATP1A3 | c.2434T>G (p.Cys812Gly) c.2395T>G (p.Cys799Gly) c.2428T>G (p.Cys810Gly) c.2305T>G (p.Cys769Gly) | |
19 | g.41970411A>G | CA406039329 | ATP1A3 | c.2434T>C (p.Cys812Arg) c.2395T>C (p.Cys799Arg) c.2428T>C (p.Cys810Arg) c.2305T>C (p.Cys769Arg) | ClinVar |
19 | g.41970411A>T | CA406039331 | ATP1A3 | c.2434T>A (p.Cys812Ser) c.2395T>A (p.Cys799Ser) c.2428T>A (p.Cys810Ser) c.2305T>A (p.Cys769Ser) | |
19 | g.41970412G>A | CA507694792 | ATP1A3 | c.2433C>T (p.Leu811=) c.2394C>T (p.Leu798=) c.2427C>T (p.Leu809=) c.2304C>T (p.Leu768=) | |
19 | g.41970412G>C | CA507694793 | ATP1A3 | c.2433C>G (p.Leu811=) c.2394C>G (p.Leu798=) c.2427C>G (p.Leu809=) c.2304C>G (p.Leu768=) | |
19 | g.41970412G>T | CA507694794 | ATP1A3 | c.2433C>A (p.Leu811=) c.2394C>A (p.Leu798=) c.2427C>A (p.Leu809=) c.2304C>A (p.Leu768=) | |
19 | g.41970413A= | CA2336720938 | ATP1A3 | c.2432T= (p.Leu811=) c.2393T= (p.Leu798=) c.2426T= (p.Leu809=) c.2303T= (p.Leu768=) | |
19 | g.41970413A>C | CA406039334 | ATP1A3 | c.2432T>G (p.Leu811Arg) c.2393T>G (p.Leu798Arg) c.2426T>G (p.Leu809Arg) c.2303T>G (p.Leu768Arg) | |
19 | g.41970413A>G | CA406039337 | ATP1A3 | c.2432T>C (p.Leu811Pro) c.2393T>C (p.Leu798Pro) c.2426T>C (p.Leu809Pro) c.2303T>C (p.Leu768Pro) | ClinVar dbSNP |
19 | g.41970413A>T | CA406039340 | ATP1A3 | c.2432T>A (p.Leu811His) c.2393T>A (p.Leu798His) c.2426T>A (p.Leu809His) c.2303T>A (p.Leu768His) | |
19 | g.41970414G>A | CA406039343 | ATP1A3 | c.2431C>T (p.Leu811Phe) c.2392C>T (p.Leu798Phe) c.2425C>T (p.Leu809Phe) c.2302C>T (p.Leu768Phe) | COSMIC |
19 | g.41970414G>C | CA406039350 | ATP1A3 | c.2431C>G (p.Leu811Val) c.2392C>G (p.Leu798Val) c.2425C>G (p.Leu809Val) c.2302C>G (p.Leu768Val) | |
19 | g.41970414G>T | CA406039345 | ATP1A3 | c.2431C>A (p.Leu811Ile) c.2392C>A (p.Leu798Ile) c.2425C>A (p.Leu809Ile) c.2302C>A (p.Leu768Ile) | |
19 | g.41970415G>A | CA507694796 | ATP1A3 | c.2430C>T (p.Ile810=) c.2391C>T (p.Ile797=) c.2424C>T (p.Ile808=) c.2301C>T (p.Ile767=) | |
19 | g.41970415G>C | CA406039352 | ATP1A3 | c.2430C>G (p.Ile810Met) c.2391C>G (p.Ile797Met) c.2424C>G (p.Ile808Met) c.2301C>G (p.Ile767Met) | |
19 | g.41970415G>T | CA507694795 | ATP1A3 | c.2430C>A (p.Ile810=) c.2391C>A (p.Ile797=) c.2424C>A (p.Ile808=) c.2301C>A (p.Ile767=) | |
19 | g.41970416A>C | CA406039354 | ATP1A3 | c.2429T>G (p.Ile810Ser) c.2390T>G (p.Ile797Ser) c.2423T>G (p.Ile808Ser) c.2300T>G (p.Ile767Ser) | |
19 | g.41970416A>G | CA406039357 | ATP1A3 | c.2429T>C (p.Ile810Thr) c.2390T>C (p.Ile797Thr) c.2423T>C (p.Ile808Thr) c.2300T>C (p.Ile767Thr) | |
19 | g.41970416A>T | CA406039360 | ATP1A3 | c.2429T>A (p.Ile810Asn) c.2390T>A (p.Ile797Asn) c.2423T>A (p.Ile808Asn) c.2300T>A (p.Ile767Asn) | |
19 | g.41970417T>A | CA406039363 | ATP1A3 | c.2428A>T (p.Ile810Phe) c.2389A>T (p.Ile797Phe) c.2422A>T (p.Ile808Phe) c.2299A>T (p.Ile767Phe) | |
19 | g.41970417T>C | CA406039364 | ATP1A3 | c.2428A>G (p.Ile810Val) c.2389A>G (p.Ile797Val) c.2422A>G (p.Ile808Val) c.2299A>G (p.Ile767Val) | |
19 | g.41970417T>G | CA406039365 | ATP1A3 | c.2428A>C (p.Ile810Leu) c.2389A>C (p.Ile797Leu) c.2422A>C (p.Ile808Leu) c.2299A>C (p.Ile767Leu) | |
19 | g.41970418G>A | CA507694797 | ATP1A3 | c.2427C>T (p.Thr809=) c.2388C>T (p.Thr796=) c.2421C>T (p.Thr807=) c.2298C>T (p.Thr766=) | |
19 | g.41970418G>C | CA507694798 | ATP1A3 | c.2427C>G (p.Thr809=) c.2388C>G (p.Thr796=) c.2421C>G (p.Thr807=) c.2298C>G (p.Thr766=) | |
19 | g.41970418G>T | CA507694799 | ATP1A3 | c.2427C>A (p.Thr809=) c.2388C>A (p.Thr796=) c.2421C>A (p.Thr807=) c.2298C>A (p.Thr766=) | |
19 | g.41970419G>A | CA406039367 | ATP1A3 | c.2426C>T (p.Thr809Ile) c.2387C>T (p.Thr796Ile) c.2420C>T (p.Thr807Ile) c.2297C>T (p.Thr766Ile) | |
19 | g.41970419G>C | CA406039369 | ATP1A3 | c.2426C>G (p.Thr809Ser) c.2387C>G (p.Thr796Ser) c.2420C>G (p.Thr807Ser) c.2297C>G (p.Thr766Ser) | |
19 | g.41970419G>T | CA406039370 | ATP1A3 | c.2426C>A (p.Thr809Asn) c.2387C>A (p.Thr796Asn) c.2420C>A (p.Thr807Asn) c.2297C>A (p.Thr766Asn) | |
19 | g.41970420T>A | CA406039372 | ATP1A3 | c.2425A>T (p.Thr809Ser) c.2386A>T (p.Thr796Ser) c.2419A>T (p.Thr807Ser) c.2296A>T (p.Thr766Ser) | |
19 | g.41970420T>C | CA406039374 | ATP1A3 | c.2425A>G (p.Thr809Ala) c.2386A>G (p.Thr796Ala) c.2419A>G (p.Thr807Ala) c.2296A>G (p.Thr766Ala) | |
19 | g.41970420T>G | CA406039375 | ATP1A3 | c.2425A>C (p.Thr809Pro) c.2386A>C (p.Thr796Pro) c.2419A>C (p.Thr807Pro) c.2296A>C (p.Thr766Pro) | dbSNP |
19 | g.41970420T= | CA2336720941 | ATP1A3 | c.2425A= (p.Thr809=) c.2386A= (p.Thr796=) c.2419A= (p.Thr807=) c.2296A= (p.Thr766=) | |
19 | g.41970421G>A | CA507694801 | ATP1A3 | c.2424C>T (p.Ile808=) c.2385C>T (p.Ile795=) c.2418C>T (p.Ile806=) c.2295C>T (p.Ile765=) | |
19 | g.41970421G>C | CA406039376 | ATP1A3 | c.2424C>G (p.Ile808Met) c.2385C>G (p.Ile795Met) c.2418C>G (p.Ile806Met) c.2295C>G (p.Ile765Met) | |
19 | g.41970421G>T | CA507694800 | ATP1A3 | c.2424C>A (p.Ile808=) c.2385C>A (p.Ile795=) c.2418C>A (p.Ile806=) c.2295C>A (p.Ile765=) | |
19 | g.41970422A>C | CA406039377 | ATP1A3 | c.2423T>G (p.Ile808Ser) c.2384T>G (p.Ile795Ser) c.2417T>G (p.Ile806Ser) c.2294T>G (p.Ile765Ser) | |
19 | g.41970422A>G | CA406039379 | ATP1A3 | c.2423T>C (p.Ile808Thr) c.2384T>C (p.Ile795Thr) c.2417T>C (p.Ile806Thr) c.2294T>C (p.Ile765Thr) | |
19 | g.41970422A>T | CA406039381 | ATP1A3 | c.2423T>A (p.Ile808Asn) c.2384T>A (p.Ile795Asn) c.2417T>A (p.Ile806Asn) c.2294T>A (p.Ile765Asn) | |
19 | g.41970423T>A | CA406039382 | ATP1A3 | c.2422A>T (p.Ile808Phe) c.2383A>T (p.Ile795Phe) c.2416A>T (p.Ile806Phe) c.2293A>T (p.Ile765Phe) | dbSNP |
19 | g.41970423T>C | CA406039383 | ATP1A3 | c.2422A>G (p.Ile808Val) c.2383A>G (p.Ile795Val) c.2416A>G (p.Ile806Val) c.2293A>G (p.Ile765Val) | |
19 | g.41970423T>G | CA406039385 | ATP1A3 | c.2422A>C (p.Ile808Leu) c.2383A>C (p.Ile795Leu) c.2416A>C (p.Ile806Leu) c.2293A>C (p.Ile765Leu) | |
19 | g.41970423T= | CA2336720942 | ATP1A3 | c.2422A= (p.Ile808=) c.2383A= (p.Ile795=) c.2416A= (p.Ile806=) c.2293A= (p.Ile765=) | |
19 | g.41970424G>A | CA507694802 | ATP1A3 | c.2421C>T (p.Thr807=) c.2382C>T (p.Thr794=) c.2415C>T (p.Thr805=) c.2292C>T (p.Thr764=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41970424G>C | CA507694803 | ATP1A3 | c.2421C>G (p.Thr807=) c.2382C>G (p.Thr794=) c.2415C>G (p.Thr805=) c.2292C>G (p.Thr764=) | |
19 | g.41970424G= | CA2336720943 | ATP1A3 | c.2421C= (p.Thr807=) c.2382C= (p.Thr794=) c.2415C= (p.Thr805=) c.2292C= (p.Thr764=) | |
19 | g.41970424G>T | CA507694804 | ATP1A3 | c.2421C>A (p.Thr807=) c.2382C>A (p.Thr794=) c.2415C>A (p.Thr805=) c.2292C>A (p.Thr764=) | dbSNP |
19 | g.41970425G>A | CA406039387 | ATP1A3 | c.2420C>T (p.Thr807Ile) c.2381C>T (p.Thr794Ile) c.2414C>T (p.Thr805Ile) c.2291C>T (p.Thr764Ile) | |
19 | g.41970425G>C | CA406039389 | ATP1A3 | c.2420C>G (p.Thr807Ser) c.2381C>G (p.Thr794Ser) c.2414C>G (p.Thr805Ser) c.2291C>G (p.Thr764Ser) | |
19 | g.41970425G>T | CA406039390 | ATP1A3 | c.2420C>A (p.Thr807Asn) c.2381C>A (p.Thr794Asn) c.2414C>A (p.Thr805Asn) c.2291C>A (p.Thr764Asn) | |
19 | g.41970426T>A | CA406039392 | ATP1A3 | c.2419A>T (p.Thr807Ser) c.2380A>T (p.Thr794Ser) c.2413A>T (p.Thr805Ser) c.2290A>T (p.Thr764Ser) | |
19 | g.41970426T>C | CA406039394 | ATP1A3 | c.2419A>G (p.Thr807Ala) c.2380A>G (p.Thr794Ala) c.2413A>G (p.Thr805Ala) c.2290A>G (p.Thr764Ala) | |
19 | g.41970426T>G | CA406039395 | ATP1A3 | c.2419A>C (p.Thr807Pro) c.2380A>C (p.Thr794Pro) c.2413A>C (p.Thr805Pro) c.2290A>C (p.Thr764Pro) |