Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41984887T>A | CA2585370637 | ATP1A3 | c.1032+31A>T (n.1032+31A>T) c.993+31A>T (n.993+31A>T) n.337A>T c.1026+31A>T (n.1026+31A>T) c.903+31A>T (n.903+31A>T) | gnomAD v4 |
19 | g.41984887T>C | CA2576797229 | ATP1A3 | c.1032+31A>G (n.1032+31A>G) c.993+31A>G (n.993+31A>G) n.337A>G c.1026+31A>G (n.1026+31A>G) c.903+31A>G (n.903+31A>G) | |
19 | g.41984888C>A | CA2839646080 | ATP1A3 | c.1032+30G>T (n.1032+30G>T) c.993+30G>T (n.993+30G>T) n.336G>T c.1026+30G>T (n.1026+30G>T) c.903+30G>T (n.903+30G>T) | |
19 | g.41984890C= | CA2336727953 | ATP1A3 | c.1032+28G= (n.1032+28G=) c.993+28G= (n.993+28G=) n.334G= c.1026+28G= (n.1026+28G=) c.903+28G= (n.903+28G=) | |
19 | g.41984890C>T | CA633471599 | ATP1A3 | c.1032+28G>A (n.1032+28G>A) c.993+28G>A (n.993+28G>A) n.334G>A c.1026+28G>A (n.1026+28G>A) c.903+28G>A (n.903+28G>A) | dbSNP gnomAD v2 |
19 | g.41984891C>A | CA9467749 | ATP1A3 | c.1032+27G>T (n.1032+27G>T) c.993+27G>T (n.993+27G>T) n.333G>T c.1026+27G>T (n.1026+27G>T) c.903+27G>T (n.903+27G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41984891C= | CA2336727954 | ATP1A3 | c.1032+27G= (n.1032+27G=) c.993+27G= (n.993+27G=) n.333G= c.1026+27G= (n.1026+27G=) c.903+27G= (n.903+27G=) | |
19 | g.41984891C>G | CA2585370638 | ATP1A3 | c.1032+27G>C (n.1032+27G>C) c.993+27G>C (n.993+27G>C) n.333G>C c.1026+27G>C (n.1026+27G>C) c.903+27G>C (n.903+27G>C) | gnomAD v4 |
19 | g.41984892A= | CA2336727955 | ATP1A3 | c.1032+26T= (n.1032+26T=) c.993+26T= (n.993+26T=) n.332T= c.1026+26T= (n.1026+26T=) c.903+26T= (n.903+26T=) | |
19 | g.41984892A>C | CA2336727956 | ATP1A3 | c.1032+26T>G (n.1032+26T>G) c.993+26T>G (n.993+26T>G) n.332T>G c.1026+26T>G (n.1026+26T>G) c.903+26T>G (n.903+26T>G) | dbSNP |
19 | g.41984895del | CA2839646081 | ATP1A3 | c.1032+25del (n.1032+25del) c.993+25del (n.993+25del) n.331del c.1026+25del (n.1026+25del) c.903+25del (n.903+25del) | |
19 | g.41984894C= | CA2336727957 | ATP1A3 | c.1032+24G= (n.1032+24G=) c.993+24G= (n.993+24G=) n.330G= c.1026+24G= (n.1026+24G=) c.903+24G= (n.903+24G=) | |
19 | g.41984894C>T | CA633471600 | ATP1A3 | c.1032+24G>A (n.1032+24G>A) c.993+24G>A (n.993+24G>A) n.330G>A c.1026+24G>A (n.1026+24G>A) c.903+24G>A (n.903+24G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41984895C= | CA2336727958 | ATP1A3 | c.1032+23G= (n.1032+23G=) c.993+23G= (n.993+23G=) n.329G= c.1026+23G= (n.1026+23G=) c.903+23G= (n.903+23G=) | |
19 | g.41984895C>T | CA633471601 | ATP1A3 | c.1032+23G>A (n.1032+23G>A) c.993+23G>A (n.993+23G>A) n.329G>A c.1026+23G>A (n.1026+23G>A) c.903+23G>A (n.903+23G>A) | dbSNP gnomAD v2 |
19 | g.41984896A>G | CA2840784588 | ATP1A3 | c.1032+22T>C (n.1032+22T>C) c.993+22T>C (n.993+22T>C) n.328T>C c.1026+22T>C (n.1026+22T>C) c.903+22T>C (n.903+22T>C) | |
19 | g.41984898A>G | CA2585370639 | ATP1A3 | c.1032+20T>C (n.1032+20T>C) c.993+20T>C (n.993+20T>C) n.326T>C c.1026+20T>C (n.1026+20T>C) c.903+20T>C (n.903+20T>C) | gnomAD v4 |
19 | g.41984899C>T | CA2585370640 | ATP1A3 | c.1032+19G>A (n.1032+19G>A) c.993+19G>A (n.993+19G>A) n.325G>A c.1026+19G>A (n.1026+19G>A) c.903+19G>A (n.903+19G>A) | gnomAD v4 |
19 | g.41984900C= | CA2336727959 | ATP1A3 | c.1032+18G= (n.1032+18G=) c.993+18G= (n.993+18G=) n.324G= c.1026+18G= (n.1026+18G=) c.903+18G= (n.903+18G=) | |
19 | g.41984900C>T | CA2814451411 | ATP1A3 | c.1032+18G>A (n.1032+18G>A) c.993+18G>A (n.993+18G>A) n.324G>A c.1026+18G>A (n.1026+18G>A) c.903+18G>A (n.903+18G>A) | |
19 | g.41984900_41984901insTGT | CA9467750 | ATP1A3 | c.1032+17_1032+18insACA (n.1032+17_1032+18insACA) c.993+17_993+18insACA (n.993+17_993+18insACA) n.323_324insACA c.1026+17_1026+18insACA (n.1026+17_1026+18insACA) c.903+17_903+18insACA (n.903+17_903+18insACA) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41984901C>A | CA9467751 | ATP1A3 | c.1032+17G>T (n.1032+17G>T) c.993+17G>T (n.993+17G>T) n.323G>T c.1026+17G>T (n.1026+17G>T) c.903+17G>T (n.903+17G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41984901C= | CA2336727960 | ATP1A3 | c.1032+17G= (n.1032+17G=) c.993+17G= (n.993+17G=) n.323G= c.1026+17G= (n.1026+17G=) c.903+17G= (n.903+17G=) | |
19 | g.41984902A= | CA2336727961 | ATP1A3 | c.1032+16T= (n.1032+16T=) c.993+16T= (n.993+16T=) n.322T= c.1026+16T= (n.1026+16T=) c.903+16T= (n.903+16T=) | |
19 | g.41984902A>G | CA308597141 | ATP1A3 | c.1032+16T>C (n.1032+16T>C) c.993+16T>C (n.993+16T>C) n.322T>C c.1026+16T>C (n.1026+16T>C) c.903+16T>C (n.903+16T>C) | dbSNP |
19 | g.41984903G>A | CA2576797230 | ATP1A3 | c.1032+15C>T (n.1032+15C>T) c.993+15C>T (n.993+15C>T) n.321C>T c.1026+15C>T (n.1026+15C>T) c.903+15C>T (n.903+15C>T) | gnomAD v4 |
19 | g.41984903G= | CA2336727962 | ATP1A3 | c.1032+15C= (n.1032+15C=) c.993+15C= (n.993+15C=) n.321C= c.1026+15C= (n.1026+15C=) c.903+15C= (n.903+15C=) | |
19 | g.41984903G>T | CA308597156 | ATP1A3 | c.1032+15C>A (n.1032+15C>A) c.993+15C>A (n.993+15C>A) n.321C>A c.1026+15C>A (n.1026+15C>A) c.903+15C>A (n.903+15C>A) | dbSNP |
19 | g.41984904G>A | CA9467752 | ATP1A3 | c.1032+14C>T (n.1032+14C>T) c.993+14C>T (n.993+14C>T) n.320C>T c.1026+14C>T (n.1026+14C>T) c.903+14C>T (n.903+14C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41984904G>C | CA882392250 | ATP1A3 | c.1032+14C>G (n.1032+14C>G) c.993+14C>G (n.993+14C>G) n.320C>G c.1026+14C>G (n.1026+14C>G) c.903+14C>G (n.903+14C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41984904G= | CA2336727963 | ATP1A3 | c.1032+14C= (n.1032+14C=) c.993+14C= (n.993+14C=) n.320C= c.1026+14C= (n.1026+14C=) c.903+14C= (n.903+14C=) | |
19 | g.41984906G>A | CA2585370641 | ATP1A3 | c.1032+12C>T (n.1032+12C>T) c.993+12C>T (n.993+12C>T) n.318C>T c.1026+12C>T (n.1026+12C>T) c.903+12C>T (n.903+12C>T) | gnomAD v4 |
19 | g.41984906G= | CA2336727964 | ATP1A3 | c.1032+12C= (n.1032+12C=) c.993+12C= (n.993+12C=) n.318C= c.1026+12C= (n.1026+12C=) c.903+12C= (n.903+12C=) | |
19 | g.41984906G>T | CA9467753 | ATP1A3 | c.1032+12C>A (n.1032+12C>A) c.993+12C>A (n.993+12C>A) n.318C>A c.1026+12C>A (n.1026+12C>A) c.903+12C>A (n.903+12C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41984907C>A | CA2585370642 | ATP1A3 | c.1032+11G>T (n.1032+11G>T) c.993+11G>T (n.993+11G>T) n.317G>T c.1026+11G>T (n.1026+11G>T) c.903+11G>T (n.903+11G>T) | gnomAD v4 |
19 | g.41984907C>G | CA2740096916 | ATP1A3 | c.1032+11G>C (n.1032+11G>C) c.993+11G>C (n.993+11G>C) n.317G>C c.1026+11G>C (n.1026+11G>C) c.903+11G>C (n.903+11G>C) | ClinVar |
19 | g.41984907C>T | CA2576797231 | ATP1A3 | c.1032+11G>A (n.1032+11G>A) c.993+11G>A (n.993+11G>A) n.317G>A c.1026+11G>A (n.1026+11G>A) c.903+11G>A (n.903+11G>A) | |
19 | g.41984908C>T | CA2576797232 | ATP1A3 | c.1032+10G>A (n.1032+10G>A) c.993+10G>A (n.993+10G>A) n.316G>A c.1026+10G>A (n.1026+10G>A) c.903+10G>A (n.903+10G>A) | |
19 | g.41984909T>A | CA9467754 | ATP1A3 | c.1032+9A>T (n.1032+9A>T) c.993+9A>T (n.993+9A>T) n.315A>T c.1026+9A>T (n.1026+9A>T) c.903+9A>T (n.903+9A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41984909T= | CA2336727965 | ATP1A3 | c.1032+9A= (n.1032+9A=) c.993+9A= (n.993+9A=) n.315A= c.1026+9A= (n.1026+9A=) c.903+9A= (n.903+9A=) | |
19 | g.41984910G>C | CA2336727967 | ATP1A3 | c.1032+8C>G (n.1032+8C>G) c.993+8C>G (n.993+8C>G) n.314C>G c.1026+8C>G (n.1026+8C>G) c.903+8C>G (n.903+8C>G) | ClinVar dbSNP gnomAD v4 |
19 | g.41984910G= | CA2336727966 | ATP1A3 | c.1032+8C= (n.1032+8C=) c.993+8C= (n.993+8C=) n.314C= c.1026+8C= (n.1026+8C=) c.903+8C= (n.903+8C=) | |
19 | g.41984910G>T | CA2576797234 | ATP1A3 | c.1032+8C>A (n.1032+8C>A) c.993+8C>A (n.993+8C>A) n.314C>A c.1026+8C>A (n.1026+8C>A) c.903+8C>A (n.903+8C>A) | |
19 | g.41984911dup | CA2576797233 | ATP1A3 | c.1032+8dup (n.1032+8dup) c.993+8dup (n.993+8dup) n.314dup c.1026+8dup (n.1026+8dup) c.903+8dup (n.903+8dup) | |
19 | g.41984911G= | CA2336727968 | ATP1A3 | c.1032+7C= (n.1032+7C=) c.993+7C= (n.993+7C=) n.313C= c.1026+7C= (n.1026+7C=) c.903+7C= (n.903+7C=) | |
19 | g.41984911G>T | CA882392254 | ATP1A3 | c.1032+7C>A (n.1032+7C>A) c.993+7C>A (n.993+7C>A) n.313C>A c.1026+7C>A (n.1026+7C>A) c.903+7C>A (n.903+7C>A) | dbSNP |
19 | g.41984912C= | CA2336727969 | ATP1A3 | c.1032+6G= (n.1032+6G=) c.993+6G= (n.993+6G=) n.312G= c.1026+6G= (n.1026+6G=) c.903+6G= (n.903+6G=) | |
19 | g.41984912C>T | CA633471602 | ATP1A3 | c.1032+6G>A (n.1032+6G>A) c.993+6G>A (n.993+6G>A) n.312G>A c.1026+6G>A (n.1026+6G>A) c.903+6G>A (n.903+6G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41984913_41984914insCAGCCCTCACC | CA2536253556 | ATP1A3 | c.1032+6_1032+7insTGAGGGCTGGG (n.1032+6_1032+7insTGAGGGCTGGG) c.993+6_993+7insTGAGGGCTGGG (n.993+6_993+7insTGAGGGCTGGG) n.312_313insTGAGGGCTGGG c.1026+6_1026+7insTGAGGGCTGGG (n.1026+6_1026+7insTGAGGGCTGGG) c.903+6_903+7insTGAGGGCTGGG (n.903+6_903+7insTGAGGGCTGGG) | |
19 | g.41984913C>A | CA2585370643 | ATP1A3 | c.1032+5G>T (n.1032+5G>T) c.993+5G>T (n.993+5G>T) n.311G>T c.1026+5G>T (n.1026+5G>T) c.903+5G>T (n.903+5G>T) | gnomAD v4 |
19 | g.41984914T>C | CA2840784589 | ATP1A3 | c.1032+4A>G (n.1032+4A>G) c.993+4A>G (n.993+4A>G) n.310A>G c.1026+4A>G (n.1026+4A>G) c.903+4A>G (n.903+4A>G) | |
19 | g.41984916A>C | CA406052029 | ATP1A3 | c.1032+2T>G (n.1032+2T>G) c.993+2T>G (n.993+2T>G) n.308T>G c.1026+2T>G (n.1026+2T>G) c.903+2T>G (n.903+2T>G) | |
19 | g.41984916A>G | CA406052030 | ATP1A3 | c.1032+2T>C (n.1032+2T>C) c.993+2T>C (n.993+2T>C) n.308T>C c.1026+2T>C (n.1026+2T>C) c.903+2T>C (n.903+2T>C) | |
19 | g.41984916A>T | CA406052033 | ATP1A3 | c.1032+2T>A (n.1032+2T>A) c.993+2T>A (n.993+2T>A) n.308T>A c.1026+2T>A (n.1026+2T>A) c.903+2T>A (n.903+2T>A) | |
19 | g.41984917_41984918del | CA2695228878 | ATP1A3 | c.1032+1_1032+2del c.993+1_993+2del n.307_308del c.1026+1_1026+2del c.903+1_903+2del | |
19 | g.41984922_41984927del | CA2695228879 | ATP1A3 | c.1029_1032+2del c.990_993+2del n.303_308del c.1023_1026+2del c.900_903+2del | |
19 | g.41984917C>A | CA406052039 | ATP1A3 | c.1032+1G>T (n.1032+1G>T) c.993+1G>T (n.993+1G>T) n.307G>T c.1026+1G>T (n.1026+1G>T) c.903+1G>T (n.903+1G>T) | |
19 | g.41984917C>G | CA406052036 | ATP1A3 | c.1032+1G>C (n.1032+1G>C) c.993+1G>C (n.993+1G>C) n.307G>C c.1026+1G>C (n.1026+1G>C) c.903+1G>C (n.903+1G>C) | |
19 | g.41984917C>T | CA406052037 | ATP1A3 | c.1032+1G>A (n.1032+1G>A) c.993+1G>A (n.993+1G>A) n.307G>A c.1026+1G>A (n.1026+1G>A) c.903+1G>A (n.903+1G>A) | |
19 | g.41984918A>C | CA507695356 | ATP1A3 | c.1032T>G (p.Thr344=) c.993T>G (p.Thr331=) n.306T>G c.1026T>G (p.Thr342=) c.903T>G (p.Thr301=) | |
19 | g.41984918A>G | CA507695357 | ATP1A3 | c.1032T>C (p.Thr344=) c.993T>C (p.Thr331=) n.306T>C c.1026T>C (p.Thr342=) c.903T>C (p.Thr301=) | |
19 | g.41984918A>T | CA507695358 | ATP1A3 | c.1032T>A (p.Thr344=) c.993T>A (p.Thr331=) n.306T>A c.1026T>A (p.Thr342=) c.903T>A (p.Thr301=) | |
19 | g.41984919G>A | CA406052041 | ATP1A3 | c.1031C>T (p.Thr344Ile) c.992C>T (p.Thr331Ile) n.305C>T c.1025C>T (p.Thr342Ile) c.902C>T (p.Thr301Ile) | ClinVar dbSNP |
19 | g.41984919G>C | CA406052044 | ATP1A3 | c.1031C>G (p.Thr344Ser) c.992C>G (p.Thr331Ser) n.305C>G c.1025C>G (p.Thr342Ser) c.902C>G (p.Thr301Ser) | |
19 | g.41984919G= | CA2336727970 | ATP1A3 | c.1031C= (p.Thr344=) c.992C= (p.Thr331=) n.305C= c.1025C= (p.Thr342=) c.902C= (p.Thr301=) | |
19 | g.41984919G>T | CA406052045 | ATP1A3 | c.1031C>A (p.Thr344Asn) c.992C>A (p.Thr331Asn) n.305C>A c.1025C>A (p.Thr342Asn) c.902C>A (p.Thr301Asn) | |
19 | g.41984920T>A | CA406052048 | ATP1A3 | c.1030A>T (p.Thr344Ser) c.991A>T (p.Thr331Ser) n.304A>T c.1024A>T (p.Thr342Ser) c.901A>T (p.Thr301Ser) | |
19 | g.41984920T>C | CA406052051 | ATP1A3 | c.1030A>G (p.Thr344Ala) c.991A>G (p.Thr331Ala) n.304A>G c.1024A>G (p.Thr342Ala) c.901A>G (p.Thr301Ala) | |
19 | g.41984920T>G | CA406052053 | ATP1A3 | c.1030A>C (p.Thr344Pro) c.991A>C (p.Thr331Pro) n.304A>C c.1024A>C (p.Thr342Pro) c.901A>C (p.Thr301Pro) | ClinVar |
19 | g.41984921G>A | CA507695359 | ATP1A3 | c.1029C>T (p.Val343=) c.990C>T (p.Val330=) n.303C>T c.1023C>T (p.Val341=) c.900C>T (p.Val300=) | ClinVar dbSNP gnomAD v4 |
19 | g.41984921G>C | CA507695360 | ATP1A3 | c.1029C>G (p.Val343=) c.990C>G (p.Val330=) n.303C>G c.1023C>G (p.Val341=) c.900C>G (p.Val300=) | |
19 | g.41984921G>T | CA507695361 | ATP1A3 | c.1029C>A (p.Val343=) c.990C>A (p.Val330=) n.303C>A c.1023C>A (p.Val341=) c.900C>A (p.Val300=) | |
19 | g.41984922A>C | CA406052056 | ATP1A3 | c.1028T>G (p.Val343Gly) c.989T>G (p.Val330Gly) n.302T>G c.1022T>G (p.Val341Gly) c.899T>G (p.Val300Gly) | |
19 | g.41984922A>G | CA406052059 | ATP1A3 | c.1028T>C (p.Val343Ala) c.989T>C (p.Val330Ala) n.302T>C c.1022T>C (p.Val341Ala) c.899T>C (p.Val300Ala) | |
19 | g.41984922A>T | CA406052062 | ATP1A3 | c.1028T>A (p.Val343Asp) c.989T>A (p.Val330Asp) n.302T>A c.1022T>A (p.Val341Asp) c.899T>A (p.Val300Asp) | |
19 | g.41984923C>A | CA406052065 | ATP1A3 | c.1027G>T (p.Val343Phe) c.988G>T (p.Val330Phe) n.301G>T c.1021G>T (p.Val341Phe) c.898G>T (p.Val300Phe) | |
19 | g.41984923C>G | CA406052067 | ATP1A3 | c.1027G>C (p.Val343Leu) c.988G>C (p.Val330Leu) n.301G>C c.1021G>C (p.Val341Leu) c.898G>C (p.Val300Leu) | |
19 | g.41984923C>T | CA406052070 | ATP1A3 | c.1027G>A (p.Val343Ile) c.988G>A (p.Val330Ile) n.301G>A c.1021G>A (p.Val341Ile) c.898G>A (p.Val300Ile) | |
19 | g.41984924A>C | CA507695362 | ATP1A3 | c.1026T>G (p.Thr342=) c.987T>G (p.Thr329=) n.300T>G c.1020T>G (p.Thr340=) c.897T>G (p.Thr299=) | |
19 | g.41984924A>G | CA507695363 | ATP1A3 | c.1026T>C (p.Thr342=) c.987T>C (p.Thr329=) n.300T>C c.1020T>C (p.Thr340=) c.897T>C (p.Thr299=) | |
19 | g.41984924A>T | CA507695364 | ATP1A3 | c.1026T>A (p.Thr342=) c.987T>A (p.Thr329=) n.300T>A c.1020T>A (p.Thr340=) c.897T>A (p.Thr299=) | |
19 | g.41984925G>A | CA406052082 | ATP1A3 | c.1025C>T (p.Thr342Ile) c.986C>T (p.Thr329Ile) n.299C>T c.1019C>T (p.Thr340Ile) c.896C>T (p.Thr299Ile) | |
19 | g.41984925G>C | CA406052076 | ATP1A3 | c.1025C>G (p.Thr342Ser) c.986C>G (p.Thr329Ser) n.299C>G c.1019C>G (p.Thr340Ser) c.896C>G (p.Thr299Ser) | |
19 | g.41984925G>T | CA406052073 | ATP1A3 | c.1025C>A (p.Thr342Asn) c.986C>A (p.Thr329Asn) n.299C>A c.1019C>A (p.Thr340Asn) c.896C>A (p.Thr299Asn) | |
19 | g.41984926T>A | CA406052088 | ATP1A3 | c.1024A>T (p.Thr342Ser) c.985A>T (p.Thr329Ser) n.298A>T c.1018A>T (p.Thr340Ser) c.895A>T (p.Thr299Ser) | |
19 | g.41984926T>C | CA406052086 | ATP1A3 | c.1024A>G (p.Thr342Ala) c.985A>G (p.Thr329Ala) n.298A>G c.1018A>G (p.Thr340Ala) c.895A>G (p.Thr299Ala) | |
19 | g.41984926T>G | CA406052091 | ATP1A3 | c.1024A>C (p.Thr342Pro) c.985A>C (p.Thr329Pro) n.298A>C c.1018A>C (p.Thr340Pro) c.895A>C (p.Thr299Pro) | |
19 | g.41984927G>A | CA507695365 | ATP1A3 | c.1023C>T (p.Ala341=) c.984C>T (p.Ala328=) n.297C>T c.1017C>T (p.Ala339=) c.894C>T (p.Ala298=) | |
19 | g.41984927G>C | CA507695366 | ATP1A3 | c.1023C>G (p.Ala341=) c.984C>G (p.Ala328=) n.297C>G c.1017C>G (p.Ala339=) c.894C>G (p.Ala298=) | gnomAD v4 |
19 | g.41984927G>T | CA507695367 | ATP1A3 | c.1023C>A (p.Ala341=) c.984C>A (p.Ala328=) n.297C>A c.1017C>A (p.Ala339=) c.894C>A (p.Ala298=) | |
19 | g.41984928G>A | CA406052093 | ATP1A3 | c.1022C>T (p.Ala341Val) c.983C>T (p.Ala328Val) n.296C>T c.1016C>T (p.Ala339Val) c.893C>T (p.Ala298Val) | gnomAD v4 |
19 | g.41984928G>C | CA406052096 | ATP1A3 | c.1022C>G (p.Ala341Gly) c.983C>G (p.Ala328Gly) n.296C>G c.1016C>G (p.Ala339Gly) c.893C>G (p.Ala298Gly) | |
19 | g.41984928G>T | CA406052098 | ATP1A3 | c.1022C>A (p.Ala341Asp) c.983C>A (p.Ala328Asp) n.296C>A c.1016C>A (p.Ala339Asp) c.893C>A (p.Ala298Asp) | |
19 | g.41984929C>A | CA406052101 | ATP1A3 | c.1021G>T (p.Ala341Ser) c.982G>T (p.Ala328Ser) n.295G>T c.1015G>T (p.Ala339Ser) c.892G>T (p.Ala298Ser) | |
19 | g.41984929C>G | CA406052103 | ATP1A3 | c.1021G>C (p.Ala341Pro) c.982G>C (p.Ala328Pro) n.295G>C c.1015G>C (p.Ala339Pro) c.892G>C (p.Ala298Pro) | |
19 | g.41984929C>T | CA406052106 | ATP1A3 | c.1021G>A (p.Ala341Thr) c.982G>A (p.Ala328Thr) n.295G>A c.1015G>A (p.Ala339Thr) c.892G>A (p.Ala298Thr) | |
19 | g.41984929_41984932delinsCCAG | CA2336727971 | ATP1A3 | c.1018_1021delinsCTGG (p.Leu340=) c.979_982delinsCTGG (p.Leu327=) n.292_295delinsCTGG c.1012_1015delinsCTGG (p.Leu338=) c.889_892delinsCTGG (p.Leu297=) | |
19 | g.41984930C>A | CA507695368 | ATP1A3 | c.1020G>T (p.Leu340=) c.981G>T (p.Leu327=) n.294G>T c.1014G>T (p.Leu338=) c.891G>T (p.Leu297=) | |
19 | g.41984930C>G | CA507695369 | ATP1A3 | c.1020G>C (p.Leu340=) c.981G>C (p.Leu327=) n.294G>C c.1014G>C (p.Leu338=) c.891G>C (p.Leu297=) | |
19 | g.41984930C>T | CA507695370 | ATP1A3 | c.1020G>A (p.Leu340=) c.981G>A (p.Leu327=) n.294G>A c.1014G>A (p.Leu338=) c.891G>A (p.Leu297=) | |
19 | g.41984933_41984935del | CA346002 | ATP1A3 | c.1018_1020del (p.Leu340del) c.979_981del (p.Leu327del) n.292_294del c.1012_1014del (p.Leu338del) c.889_891del (p.Leu297del) | dbSNP |
19 | g.41984931A>C | CA406052113 | ATP1A3 | c.1019T>G (p.Leu340Arg) c.980T>G (p.Leu327Arg) n.293T>G c.1013T>G (p.Leu338Arg) c.890T>G (p.Leu297Arg) | |
19 | g.41984931A>G | CA406052114 | ATP1A3 | c.1019T>C (p.Leu340Pro) c.980T>C (p.Leu327Pro) n.293T>C c.1013T>C (p.Leu338Pro) c.890T>C (p.Leu297Pro) | |
19 | g.41984931A>T | CA406052117 | ATP1A3 | c.1019T>A (p.Leu340Gln) c.980T>A (p.Leu327Gln) n.293T>A c.1013T>A (p.Leu338Gln) c.890T>A (p.Leu297Gln) | |
19 | g.41984932G>A | CA507695371 | ATP1A3 | c.1018C>T (p.Leu340=) c.979C>T (p.Leu327=) n.292C>T c.1012C>T (p.Leu338=) c.889C>T (p.Leu297=) | |
19 | g.41984932G>C | CA406052120 | ATP1A3 | c.1018C>G (p.Leu340Val) c.979C>G (p.Leu327Val) n.292C>G c.1012C>G (p.Leu338Val) c.889C>G (p.Leu297Val) | |
19 | g.41984932G>T | CA406052123 | ATP1A3 | c.1018C>A (p.Leu340Met) c.979C>A (p.Leu327Met) n.292C>A c.1012C>A (p.Leu338Met) c.889C>A (p.Leu297Met) | |
19 | g.41984933C>A | CA507695372 | ATP1A3 | c.1017G>T (p.Leu339=) c.978G>T (p.Leu326=) n.291G>T c.1011G>T (p.Leu337=) c.888G>T (p.Leu296=) | gnomAD v4 COSMIC |
19 | g.41984933C= | CA2336727972 | ATP1A3 | c.1017G= (p.Leu339=) c.978G= (p.Leu326=) n.291G= c.1011G= (p.Leu337=) c.888G= (p.Leu296=) | |
19 | g.41984933C>G | CA9467755 | ATP1A3 | c.1017G>C (p.Leu339=) c.978G>C (p.Leu326=) n.291G>C c.1011G>C (p.Leu337=) c.888G>C (p.Leu296=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41984933C>T | CA507695373 | ATP1A3 | c.1017G>A (p.Leu339=) c.978G>A (p.Leu326=) n.291G>A c.1011G>A (p.Leu337=) c.888G>A (p.Leu296=) | |
19 | g.41984934A= | CA2336727973 | ATP1A3 | c.1016T= (p.Leu339=) c.977T= (p.Leu326=) n.290T= c.1010T= (p.Leu337=) c.887T= (p.Leu296=) | |
19 | g.41984934A>C | CA406052127 | ATP1A3 | c.1016T>G (p.Leu339Arg) c.977T>G (p.Leu326Arg) n.290T>G c.1010T>G (p.Leu337Arg) c.887T>G (p.Leu296Arg) | ClinVar dbSNP |
19 | g.41984934A>G | CA406052131 | ATP1A3 | c.1016T>C (p.Leu339Pro) c.977T>C (p.Leu326Pro) n.290T>C c.1010T>C (p.Leu337Pro) c.887T>C (p.Leu296Pro) | ClinVar |
19 | g.41984934A>T | CA406052129 | ATP1A3 | c.1016T>A (p.Leu339Gln) c.977T>A (p.Leu326Gln) n.290T>A c.1010T>A (p.Leu337Gln) c.887T>A (p.Leu296Gln) | |
19 | g.41984935G>A | CA507695374 | ATP1A3 | c.1015C>T (p.Leu339=) c.976C>T (p.Leu326=) n.289C>T c.1009C>T (p.Leu337=) c.886C>T (p.Leu296=) | |
19 | g.41984935G>C | CA406052134 | ATP1A3 | c.1015C>G (p.Leu339Val) c.976C>G (p.Leu326Val) n.289C>G c.1009C>G (p.Leu337Val) c.886C>G (p.Leu296Val) | |
19 | g.41984935G>T | CA406052135 | ATP1A3 | c.1015C>A (p.Leu339Met) c.976C>A (p.Leu326Met) n.289C>A c.1009C>A (p.Leu337Met) c.886C>A (p.Leu296Met) | |
19 | g.41984936A= | CA2336727974 | ATP1A3 | c.1014T= (p.Gly338=) c.975T= (p.Gly325=) n.288T= c.1008T= (p.Gly336=) c.885T= (p.Gly295=) | |
19 | g.41984936A>C | CA507695375 | ATP1A3 | c.1014T>G (p.Gly338=) c.975T>G (p.Gly325=) n.288T>G c.1008T>G (p.Gly336=) c.885T>G (p.Gly295=) | dbSNP |
19 | g.41984936A>G | CA507695376 | ATP1A3 | c.1014T>C (p.Gly338=) c.975T>C (p.Gly325=) n.288T>C c.1008T>C (p.Gly336=) c.885T>C (p.Gly295=) | |
19 | g.41984936A>T | CA507695377 | ATP1A3 | c.1014T>A (p.Gly338=) c.975T>A (p.Gly325=) n.288T>A c.1008T>A (p.Gly336=) c.885T>A (p.Gly295=) | |
19 | g.41984937C>A | CA406052138 | ATP1A3 | c.1013G>T (p.Gly338Val) c.974G>T (p.Gly325Val) n.287G>T c.1007G>T (p.Gly336Val) c.884G>T (p.Gly295Val) | |
19 | g.41984937C= | CA2336727975 | ATP1A3 | c.1013G= (p.Gly338=) c.974G= (p.Gly325=) n.287G= c.1007G= (p.Gly336=) c.884G= (p.Gly295=) | |
19 | g.41984937C>G | CA406052140 | ATP1A3 | c.1013G>C (p.Gly338Ala) c.974G>C (p.Gly325Ala) n.287G>C c.1007G>C (p.Gly336Ala) c.884G>C (p.Gly295Ala) | |
19 | g.41984937C>T | CA279013 | ATP1A3 | c.1013G>A (p.Gly338Asp) c.974G>A (p.Gly325Asp) n.287G>A c.1007G>A (p.Gly336Asp) c.884G>A (p.Gly295Asp) | ClinVar dbSNP |
19 | g.41984938C>A | CA406052143 | ATP1A3 | c.1012G>T (p.Gly338Cys) c.973G>T (p.Gly325Cys) n.286G>T c.1006G>T (p.Gly336Cys) c.883G>T (p.Gly295Cys) | |
19 | g.41984938C>G | CA406052146 | ATP1A3 | c.1012G>C (p.Gly338Arg) c.973G>C (p.Gly325Arg) n.286G>C c.1006G>C (p.Gly336Arg) c.883G>C (p.Gly295Arg) | ClinVar dbSNP |
19 | g.41984938C>T | CA406052148 | ATP1A3 | c.1012G>A (p.Gly338Ser) c.973G>A (p.Gly325Ser) n.286G>A c.1006G>A (p.Gly336Ser) c.883G>A (p.Gly295Ser) | |
19 | g.41984939_41984941del | CA2695228880 | ATP1A3 | c.1010_1012del (p.Glu337del) c.971_973del (p.Glu324del) n.284_286del c.1004_1006del (p.Glu335del) c.881_883del (p.Glu294del) | |
19 | g.41984939C>A | CA406052150 | ATP1A3 | c.1011G>T (p.Glu337Asp) c.972G>T (p.Glu324Asp) n.285G>T c.1005G>T (p.Glu335Asp) c.882G>T (p.Glu294Asp) | |
19 | g.41984939C>G | CA406052151 | ATP1A3 | c.1011G>C (p.Glu337Asp) c.972G>C (p.Glu324Asp) n.285G>C c.1005G>C (p.Glu335Asp) c.882G>C (p.Glu294Asp) | |
19 | g.41984939C>T | CA507695378 | ATP1A3 | c.1011G>A (p.Glu337=) c.972G>A (p.Glu324=) n.285G>A c.1005G>A (p.Glu335=) c.882G>A (p.Glu294=) | |
19 | g.41984940T>A | CA406052156 | ATP1A3 | c.1010A>T (p.Glu337Val) c.971A>T (p.Glu324Val) n.284A>T c.1004A>T (p.Glu335Val) c.881A>T (p.Glu294Val) | |
19 | g.41984940T>C | CA204723 | ATP1A3 | c.1010A>G (p.Glu337Gly) c.971A>G (p.Glu324Gly) n.284A>G c.1004A>G (p.Glu335Gly) c.881A>G (p.Glu294Gly) | ClinVar dbSNP |
19 | g.41984940T>G | CA406052153 | ATP1A3 | c.1010A>C (p.Glu337Ala) c.971A>C (p.Glu324Ala) n.284A>C c.1004A>C (p.Glu335Ala) c.881A>C (p.Glu294Ala) | |
19 | g.41984940T= | CA2336727976 | ATP1A3 | c.1010A= (p.Glu337=) c.971A= (p.Glu324=) n.284A= c.1004A= (p.Glu335=) c.881A= (p.Glu294=) | |
19 | g.41984941C>A | CA406052160 | ATP1A3 | c.1009G>T (p.Glu337Ter) c.970G>T (p.Glu324Ter) n.283G>T c.1003G>T (p.Glu335Ter) c.880G>T (p.Glu294Ter) | |
19 | g.41984941C>G | CA406052162 | ATP1A3 | c.1009G>C (p.Glu337Gln) c.970G>C (p.Glu324Gln) n.283G>C c.1003G>C (p.Glu335Gln) c.880G>C (p.Glu294Gln) | |
19 | g.41984941C>T | CA406052163 | ATP1A3 | c.1009G>A (p.Glu337Lys) c.970G>A (p.Glu324Lys) n.283G>A c.1003G>A (p.Glu335Lys) c.880G>A (p.Glu294Lys) | |
19 | g.41984942T>A | CA507695379 | ATP1A3 | c.1008A>T (p.Pro336=) c.969A>T (p.Pro323=) n.282A>T c.1002A>T (p.Pro334=) c.879A>T (p.Pro293=) | |
19 | g.41984942T>C | CA507695380 | ATP1A3 | c.1008A>G (p.Pro336=) c.969A>G (p.Pro323=) n.282A>G c.1002A>G (p.Pro334=) c.879A>G (p.Pro293=) | dbSNP |
19 | g.41984942T>G | CA507695381 | ATP1A3 | c.1008A>C (p.Pro336=) c.969A>C (p.Pro323=) n.282A>C c.1002A>C (p.Pro334=) c.879A>C (p.Pro293=) | |
19 | g.41984942T= | CA2336727977 | ATP1A3 | c.1008A= (p.Pro336=) c.969A= (p.Pro323=) n.282A= c.1002A= (p.Pro334=) c.879A= (p.Pro293=) | |
19 | g.41984943G>A | CA406052166 | ATP1A3 | c.1007C>T (p.Pro336Leu) c.968C>T (p.Pro323Leu) n.281C>T c.1001C>T (p.Pro334Leu) c.878C>T (p.Pro293Leu) | ClinVar dbSNP |
19 | g.41984943G>C | CA406052168 | ATP1A3 | c.1007C>G (p.Pro336Arg) c.968C>G (p.Pro323Arg) n.281C>G c.1001C>G (p.Pro334Arg) c.878C>G (p.Pro293Arg) | |
19 | g.41984943G= | CA2336727978 | ATP1A3 | c.1007C= (p.Pro336=) c.968C= (p.Pro323=) n.281C= c.1001C= (p.Pro334=) c.878C= (p.Pro293=) | |
19 | g.41984943G>T | CA406052171 | ATP1A3 | c.1007C>A (p.Pro336Gln) c.968C>A (p.Pro323Gln) n.281C>A c.1001C>A (p.Pro334Gln) c.878C>A (p.Pro293Gln) | |
19 | g.41984944G>A | CA249413 | ATP1A3 | c.1006C>T (p.Pro336Ser) c.967C>T (p.Pro323Ser) n.280C>T c.1000C>T (p.Pro334Ser) c.877C>T (p.Pro293Ser) | ClinVar dbSNP |
19 | g.41984944G>C | CA406052174 | ATP1A3 | c.1006C>G (p.Pro336Ala) c.967C>G (p.Pro323Ala) n.280C>G c.1000C>G (p.Pro334Ala) c.877C>G (p.Pro293Ala) | |
19 | g.41984944G= | CA2336727979 | ATP1A3 | c.1006C= (p.Pro336=) c.967C= (p.Pro323=) n.280C= c.1000C= (p.Pro334=) c.877C= (p.Pro293=) | |
19 | g.41984944G>T | CA406052177 | ATP1A3 | c.1006C>A (p.Pro336Thr) c.967C>A (p.Pro323Thr) n.280C>A c.1000C>A (p.Pro334Thr) c.877C>A (p.Pro293Thr) | |
19 | g.41984945G>A | CA507695384 | ATP1A3 | c.1005C>T (p.Val335=) c.966C>T (p.Val322=) n.279C>T c.999C>T (p.Val333=) c.876C>T (p.Val292=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41984945G>C | CA507695383 | ATP1A3 | c.1005C>G (p.Val335=) c.966C>G (p.Val322=) n.279C>G c.999C>G (p.Val333=) c.876C>G (p.Val292=) | |
19 | g.41984945G= | CA2336727980 | ATP1A3 | c.1005C= (p.Val335=) c.966C= (p.Val322=) n.279C= c.999C= (p.Val333=) c.876C= (p.Val292=) | |
19 | g.41984945G>T | CA507695382 | ATP1A3 | c.1005C>A (p.Val335=) c.966C>A (p.Val322=) n.279C>A c.999C>A (p.Val333=) c.876C>A (p.Val292=) | |
19 | g.41984946A= | CA2336727981 | ATP1A3 | c.1004T= (p.Val335=) c.965T= (p.Val322=) n.278T= c.998T= (p.Val333=) c.875T= (p.Val292=) | |
19 | g.41984946A>C | CA406052180 | ATP1A3 | c.1004T>G (p.Val335Gly) c.965T>G (p.Val322Gly) n.278T>G c.998T>G (p.Val333Gly) c.875T>G (p.Val292Gly) | |
19 | g.41984946A>G | CA406052183 | ATP1A3 | c.1004T>C (p.Val335Ala) c.965T>C (p.Val322Ala) n.278T>C c.998T>C (p.Val333Ala) c.875T>C (p.Val292Ala) | |
19 | g.41984946A>T | CA346001 | ATP1A3 | c.1004T>A (p.Val335Asp) c.965T>A (p.Val322Asp) n.278T>A c.998T>A (p.Val333Asp) c.875T>A (p.Val292Asp) | dbSNP |
19 | g.41984947C>A | CA406052188 | ATP1A3 | c.1003G>T (p.Val335Phe) c.964G>T (p.Val322Phe) n.277G>T c.997G>T (p.Val333Phe) c.874G>T (p.Val292Phe) | |
19 | g.41984947C>G | CA406052190 | ATP1A3 | c.1003G>C (p.Val335Leu) c.964G>C (p.Val322Leu) n.277G>C c.997G>C (p.Val333Leu) c.874G>C (p.Val292Leu) | |
19 | g.41984947C>T | CA406052186 | ATP1A3 | c.1003G>A (p.Val335Ile) c.964G>A (p.Val322Ile) n.277G>A c.997G>A (p.Val333Ile) c.874G>A (p.Val292Ile) | |
19 | g.41984948A>C | CA406052192 | ATP1A3 | c.1002T>G (p.Asn334Lys) c.963T>G (p.Asn321Lys) n.276T>G c.996T>G (p.Asn332Lys) c.873T>G (p.Asn291Lys) | |
19 | g.41984948A>G | CA507695385 | ATP1A3 | c.1002T>C (p.Asn334=) c.963T>C (p.Asn321=) n.276T>C c.996T>C (p.Asn332=) c.873T>C (p.Asn291=) | gnomAD v4 |
19 | g.41984948A>T | CA406052194 | ATP1A3 | c.1002T>A (p.Asn334Lys) c.963T>A (p.Asn321Lys) n.276T>A c.996T>A (p.Asn332Lys) c.873T>A (p.Asn291Lys) | |
19 | g.41984949T>A | CA406052197 | ATP1A3 | c.1001A>T (p.Asn334Ile) c.962A>T (p.Asn321Ile) n.275A>T c.995A>T (p.Asn332Ile) c.872A>T (p.Asn291Ile) | ClinVar dbSNP |
19 | g.41984949T>C | CA406052198 | ATP1A3 | c.1001A>G (p.Asn334Ser) c.962A>G (p.Asn321Ser) n.275A>G c.995A>G (p.Asn332Ser) c.872A>G (p.Asn291Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41984949T>G | CA406052200 | ATP1A3 | c.1001A>C (p.Asn334Thr) c.962A>C (p.Asn321Thr) n.275A>C c.995A>C (p.Asn332Thr) c.872A>C (p.Asn291Thr) | |
19 | g.41984949T= | CA2336727982 | ATP1A3 | c.1001A= (p.Asn334=) c.962A= (p.Asn321=) n.275A= c.995A= (p.Asn332=) c.872A= (p.Asn291=) | |
19 | g.41984950dup | CA645620113 | ATP1A3 | c.1001dup (p.Asn334LysfsTer?) c.962dup (p.Asn321LysfsTer?) n.275dup c.995dup (p.Asn332LysfsTer?) c.872dup (p.Asn291LysfsTer?) | COSMIC |
19 | g.41984949_41984950insA | CA507695386 | ATP1A3 | c.1000_1001insT (p.Asn334IlefsTer?) c.961_962insT (p.Asn321IlefsTer?) n.274_275insT c.994_995insT (p.Asn332IlefsTer?) c.871_872insT (p.Asn291IlefsTer?) | |
19 | g.41984950T>A | CA406052207 | ATP1A3 | c.1000A>T (p.Asn334Tyr) c.961A>T (p.Asn321Tyr) n.274A>T c.994A>T (p.Asn332Tyr) c.871A>T (p.Asn291Tyr) | |
19 | g.41984950T>C | CA406052202 | ATP1A3 | c.1000A>G (p.Asn334Asp) c.961A>G (p.Asn321Asp) n.274A>G c.994A>G (p.Asn332Asp) c.871A>G (p.Asn291Asp) | |
19 | g.41984950T>G | CA406052204 | ATP1A3 | c.1000A>C (p.Asn334His) c.961A>C (p.Asn321His) n.274A>C c.994A>C (p.Asn332His) c.871A>C (p.Asn291His) | ClinVar |
19 | g.41984951G>A | CA507695387 | ATP1A3 | c.999C>T (p.Ala333=) c.960C>T (p.Ala320=) n.273C>T c.993C>T (p.Ala331=) c.870C>T (p.Ala290=) | |
19 | g.41984951G>C | CA507695388 | ATP1A3 | c.999C>G (p.Ala333=) c.960C>G (p.Ala320=) n.273C>G c.993C>G (p.Ala331=) c.870C>G (p.Ala290=) | |
19 | g.41984951G>T | CA507695389 | ATP1A3 | c.999C>A (p.Ala333=) c.960C>A (p.Ala320=) n.273C>A c.993C>A (p.Ala331=) c.870C>A (p.Ala290=) | |
19 | g.41984952G>A | CA406052209 | ATP1A3 | c.998C>T (p.Ala333Val) c.959C>T (p.Ala320Val) n.272C>T c.992C>T (p.Ala331Val) c.869C>T (p.Ala290Val) | |
19 | g.41984952G>C | CA406052210 | ATP1A3 | c.998C>G (p.Ala333Gly) c.959C>G (p.Ala320Gly) n.272C>G c.992C>G (p.Ala331Gly) c.869C>G (p.Ala290Gly) | |
19 | g.41984952G>T | CA406052213 | ATP1A3 | c.998C>A (p.Ala333Asp) c.959C>A (p.Ala320Asp) n.272C>A c.992C>A (p.Ala331Asp) c.869C>A (p.Ala290Asp) | gnomAD v4 |
19 | g.41984953C>A | CA406052216 | ATP1A3 | c.997G>T (p.Ala333Ser) c.958G>T (p.Ala320Ser) n.271G>T c.991G>T (p.Ala331Ser) c.868G>T (p.Ala290Ser) | |
19 | g.41984953C= | CA2336727983 | ATP1A3 | c.997G= (p.Ala333=) c.958G= (p.Ala320=) n.271G= c.991G= (p.Ala331=) c.868G= (p.Ala290=) | |
19 | g.41984953C>G | CA406052217 | ATP1A3 | c.997G>C (p.Ala333Pro) c.958G>C (p.Ala320Pro) n.271G>C c.991G>C (p.Ala331Pro) c.868G>C (p.Ala290Pro) | ClinVar dbSNP |
19 | g.41984953C>T | CA10586037 | ATP1A3 | c.997G>A (p.Ala333Thr) c.958G>A (p.Ala320Thr) n.271G>A c.991G>A (p.Ala331Thr) c.868G>A (p.Ala290Thr) | ClinVar dbSNP |
19 | g.41984954C>A | CA507695390 | ATP1A3 | c.996G>T (p.Val332=) c.957G>T (p.Val319=) n.270G>T c.990G>T (p.Val330=) c.867G>T (p.Val289=) | |
19 | g.41984954C>G | CA507695391 | ATP1A3 | c.996G>C (p.Val332=) c.957G>C (p.Val319=) n.270G>C c.990G>C (p.Val330=) c.867G>C (p.Val289=) | |
19 | g.41984954C>T | CA507695392 | ATP1A3 | c.996G>A (p.Val332=) c.957G>A (p.Val319=) n.270G>A c.990G>A (p.Val330=) c.867G>A (p.Val289=) | gnomAD v4 |
19 | g.41984955A>C | CA406052224 | ATP1A3 | c.995T>G (p.Val332Gly) c.956T>G (p.Val319Gly) n.269T>G c.989T>G (p.Val330Gly) c.866T>G (p.Val289Gly) | |
19 | g.41984955A>G | CA406052225 | ATP1A3 | c.995T>C (p.Val332Ala) c.956T>C (p.Val319Ala) n.269T>C c.989T>C (p.Val330Ala) c.866T>C (p.Val289Ala) | |
19 | g.41984955A>T | CA406052221 | ATP1A3 | c.995T>A (p.Val332Glu) c.956T>A (p.Val319Glu) n.269T>A c.989T>A (p.Val330Glu) c.866T>A (p.Val289Glu) | |
19 | g.41984956C>A | CA406052229 | ATP1A3 | c.994G>T (p.Val332Leu) c.955G>T (p.Val319Leu) n.268G>T c.988G>T (p.Val330Leu) c.865G>T (p.Val289Leu) | |
19 | g.41984956C>G | CA406052234 | ATP1A3 | c.994G>C (p.Val332Leu) c.955G>C (p.Val319Leu) n.268G>C c.988G>C (p.Val330Leu) c.865G>C (p.Val289Leu) | |
19 | g.41984956C>T | CA406052232 | ATP1A3 | c.994G>A (p.Val332Met) c.955G>A (p.Val319Met) n.268G>A c.988G>A (p.Val330Met) c.865G>A (p.Val289Met) | gnomAD v4 |
19 | g.41984957G>A | CA9467756 | ATP1A3 | c.993C>T (p.Ile331=) c.954C>T (p.Ile318=) n.267C>T c.987C>T (p.Ile329=) c.864C>T (p.Ile288=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.41984957G>C | CA406052240 | ATP1A3 | c.993C>G (p.Ile331Met) c.954C>G (p.Ile318Met) n.267C>G c.987C>G (p.Ile329Met) c.864C>G (p.Ile288Met) | ClinVar dbSNP |
19 | g.41984957G= | CA2336727984 | ATP1A3 | c.993C= (p.Ile331=) c.954C= (p.Ile318=) n.267C= c.987C= (p.Ile329=) c.864C= (p.Ile288=) | |
19 | g.41984957G>T | CA9467757 | ATP1A3 | c.993C>A (p.Ile331=) c.954C>A (p.Ile318=) n.267C>A c.987C>A (p.Ile329=) c.864C>A (p.Ile288=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41984958A>C | CA406052244 | ATP1A3 | c.992T>G (p.Ile331Ser) c.953T>G (p.Ile318Ser) n.266T>G c.986T>G (p.Ile329Ser) c.863T>G (p.Ile288Ser) | |
19 | g.41984958A>G | CA406052246 | ATP1A3 | c.992T>C (p.Ile331Thr) c.953T>C (p.Ile318Thr) n.266T>C c.986T>C (p.Ile329Thr) c.863T>C (p.Ile288Thr) | |
19 | g.41984958A>T | CA406052250 | ATP1A3 | c.992T>A (p.Ile331Asn) c.953T>A (p.Ile318Asn) n.266T>A c.986T>A (p.Ile329Asn) c.863T>A (p.Ile288Asn) | |
19 | g.41984959T>A | CA406052254 | ATP1A3 | c.991A>T (p.Ile331Phe) c.952A>T (p.Ile318Phe) n.265A>T c.985A>T (p.Ile329Phe) c.862A>T (p.Ile288Phe) | |
19 | g.41984959T>C | CA406052258 | ATP1A3 | c.991A>G (p.Ile331Val) c.952A>G (p.Ile318Val) n.265A>G c.985A>G (p.Ile329Val) c.862A>G (p.Ile288Val) | |
19 | g.41984959T>G | CA406052260 | ATP1A3 | c.991A>C (p.Ile331Leu) c.952A>C (p.Ile318Leu) n.265A>C c.985A>C (p.Ile329Leu) c.862A>C (p.Ile288Leu) | |
19 | g.41984960G>A | CA507695393 | ATP1A3 | c.990C>T (p.Ile330=) c.951C>T (p.Ile317=) n.264C>T c.984C>T (p.Ile328=) c.861C>T (p.Ile287=) | |
19 | g.41984960G>C | CA406052262 | ATP1A3 | c.990C>G (p.Ile330Met) c.951C>G (p.Ile317Met) n.264C>G c.984C>G (p.Ile328Met) c.861C>G (p.Ile287Met) | |
19 | g.41984960G= | CA2336727985 | ATP1A3 | c.990C= (p.Ile330=) c.951C= (p.Ile317=) n.264C= c.984C= (p.Ile328=) c.861C= (p.Ile287=) | |
19 | g.41984960G>T | CA9467758 | ATP1A3 | c.990C>A (p.Ile330=) c.951C>A (p.Ile317=) n.264C>A c.984C>A (p.Ile328=) c.861C>A (p.Ile287=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41984961A>C | CA406052266 | ATP1A3 | c.989T>G (p.Ile330Ser) c.950T>G (p.Ile317Ser) n.263T>G c.983T>G (p.Ile328Ser) c.860T>G (p.Ile287Ser) | |
19 | g.41984961A>G | CA406052269 | ATP1A3 | c.989T>C (p.Ile330Thr) c.950T>C (p.Ile317Thr) n.263T>C c.983T>C (p.Ile328Thr) c.860T>C (p.Ile287Thr) | |
19 | g.41984961A>T | CA406052271 | ATP1A3 | c.989T>A (p.Ile330Asn) c.950T>A (p.Ile317Asn) n.263T>A c.983T>A (p.Ile328Asn) c.860T>A (p.Ile287Asn) | |
19 | g.41984962T>A | CA406052277 | ATP1A3 | c.988A>T (p.Ile330Phe) c.949A>T (p.Ile317Phe) n.262A>T c.982A>T (p.Ile328Phe) c.859A>T (p.Ile287Phe) | |
19 | g.41984962T>C | CA406052274 | ATP1A3 | c.988A>G (p.Ile330Val) c.949A>G (p.Ile317Val) n.262A>G c.982A>G (p.Ile328Val) c.859A>G (p.Ile287Val) | |
19 | g.41984962T>G | CA406052273 | ATP1A3 | c.988A>C (p.Ile330Leu) c.949A>C (p.Ile317Leu) n.262A>C c.982A>C (p.Ile328Leu) c.859A>C (p.Ile287Leu) | |
19 | g.41984963G>A | CA507695394 | ATP1A3 | c.987C>T (p.Gly329=) c.948C>T (p.Gly316=) n.261C>T c.981C>T (p.Gly327=) c.858C>T (p.Gly286=) | COSMIC |
19 | g.41984963G>C | CA507695395 | ATP1A3 | c.987C>G (p.Gly329=) c.948C>G (p.Gly316=) n.261C>G c.981C>G (p.Gly327=) c.858C>G (p.Gly286=) | |
19 | g.41984963G>T | CA507695396 | ATP1A3 | c.987C>A (p.Gly329=) c.948C>A (p.Gly316=) n.261C>A c.981C>A (p.Gly327=) c.858C>A (p.Gly286=) | |
19 | g.41984964C>A | CA406052281 | ATP1A3 | c.986G>T (p.Gly329Val) c.947G>T (p.Gly316Val) n.260G>T c.980G>T (p.Gly327Val) c.857G>T (p.Gly286Val) | ClinVar dbSNP |
19 | g.41984964C>G | CA406052283 | ATP1A3 | c.986G>C (p.Gly329Ala) c.947G>C (p.Gly316Ala) n.260G>C c.980G>C (p.Gly327Ala) c.857G>C (p.Gly286Ala) | |
19 | g.41984964C>T | CA406052286 | ATP1A3 | c.986G>A (p.Gly329Asp) c.947G>A (p.Gly316Asp) n.260G>A c.980G>A (p.Gly327Asp) c.857G>A (p.Gly286Asp) | |
19 | g.41984965C>A | CA406052288 | ATP1A3 | c.985G>T (p.Gly329Cys) c.946G>T (p.Gly316Cys) n.259G>T c.979G>T (p.Gly327Cys) c.856G>T (p.Gly286Cys) | |
19 | g.41984965C= | CA2336727986 | ATP1A3 | c.985G= (p.Gly329=) c.946G= (p.Gly316=) n.259G= c.979G= (p.Gly327=) c.856G= (p.Gly286=) | |
19 | g.41984965C>G | CA406052291 | ATP1A3 | c.985G>C (p.Gly329Arg) c.946G>C (p.Gly316Arg) n.259G>C c.979G>C (p.Gly327Arg) c.856G>C (p.Gly286Arg) | |
19 | g.41984965C>T | CA358802 | ATP1A3 | c.985G>A (p.Gly329Ser) c.946G>A (p.Gly316Ser) n.259G>A c.979G>A (p.Gly327Ser) c.856G>A (p.Gly286Ser) | ClinVar dbSNP |
19 | g.41984966G>A | CA9467759 | ATP1A3 | c.984C>T (p.Ile328=) c.945C>T (p.Ile315=) n.258C>T c.978C>T (p.Ile326=) c.855C>T (p.Ile285=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41984966G>C | CA406052296 | ATP1A3 | c.984C>G (p.Ile328Met) c.945C>G (p.Ile315Met) n.258C>G c.978C>G (p.Ile326Met) c.855C>G (p.Ile285Met) | |
19 | g.41984966G= | CA2336727987 | ATP1A3 | c.984C= (p.Ile328=) c.945C= (p.Ile315=) n.258C= c.978C= (p.Ile326=) c.855C= (p.Ile285=) | |
19 | g.41984966G>T | CA507695397 | ATP1A3 | c.984C>A (p.Ile328=) c.945C>A (p.Ile315=) n.258C>A c.978C>A (p.Ile326=) c.855C>A (p.Ile285=) | |
19 | g.41984967A>C | CA406052298 | ATP1A3 | c.983T>G (p.Ile328Ser) c.944T>G (p.Ile315Ser) n.257T>G c.977T>G (p.Ile326Ser) c.854T>G (p.Ile285Ser) | |
19 | g.41984967A>G | CA406052299 | ATP1A3 | c.983T>C (p.Ile328Thr) c.944T>C (p.Ile315Thr) n.257T>C c.977T>C (p.Ile326Thr) c.854T>C (p.Ile285Thr) | |
19 | g.41984967A>T | CA406052302 | ATP1A3 | c.983T>A (p.Ile328Asn) c.944T>A (p.Ile315Asn) n.257T>A c.977T>A (p.Ile326Asn) c.854T>A (p.Ile285Asn) | |
19 | g.41984968T>A | CA406052312 | ATP1A3 | c.982A>T (p.Ile328Phe) c.943A>T (p.Ile315Phe) n.256A>T c.976A>T (p.Ile326Phe) c.853A>T (p.Ile285Phe) | ClinVar |
19 | g.41984968T>C | CA406052308 | ATP1A3 | c.982A>G (p.Ile328Val) c.943A>G (p.Ile315Val) n.256A>G c.976A>G (p.Ile326Val) c.853A>G (p.Ile285Val) | |
19 | g.41984968T>G | CA406052306 | ATP1A3 | c.982A>C (p.Ile328Leu) c.943A>C (p.Ile315Leu) n.256A>C c.976A>C (p.Ile326Leu) c.853A>C (p.Ile285Leu) | |
19 | g.41984969G>A | CA9467760 | ATP1A3 | c.981C>T (p.Leu327=) c.942C>T (p.Leu314=) n.255C>T c.975C>T (p.Leu325=) c.852C>T (p.Leu284=) | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.41984969G>C | CA507695398 | ATP1A3 | c.981C>G (p.Leu327=) c.942C>G (p.Leu314=) n.255C>G c.975C>G (p.Leu325=) c.852C>G (p.Leu284=) | |
19 | g.41984969G= | CA2336727988 | ATP1A3 | c.981C= (p.Leu327=) c.942C= (p.Leu314=) n.255C= c.975C= (p.Leu325=) c.852C= (p.Leu284=) | |
19 | g.41984969G>T | CA507695399 | ATP1A3 | c.981C>A (p.Leu327=) c.942C>A (p.Leu314=) n.255C>A c.975C>A (p.Leu325=) c.852C>A (p.Leu284=) | gnomAD v4 |
19 | g.41984970A>C | CA406052316 | ATP1A3 | c.980T>G (p.Leu327Arg) c.941T>G (p.Leu314Arg) n.254T>G c.974T>G (p.Leu325Arg) c.851T>G (p.Leu284Arg) | |
19 | g.41984970A>G | CA406052319 | ATP1A3 | c.980T>C (p.Leu327Pro) c.941T>C (p.Leu314Pro) n.254T>C c.974T>C (p.Leu325Pro) c.851T>C (p.Leu284Pro) | |
19 | g.41984970A>T | CA406052322 | ATP1A3 | c.980T>A (p.Leu327His) c.941T>A (p.Leu314His) n.254T>A c.974T>A (p.Leu325His) c.851T>A (p.Leu284His) | |
19 | g.41984971G>A | CA406052325 | ATP1A3 | c.979C>T (p.Leu327Phe) c.940C>T (p.Leu314Phe) n.253C>T c.973C>T (p.Leu325Phe) c.850C>T (p.Leu284Phe) | |
19 | g.41984971G>C | CA406052327 | ATP1A3 | c.979C>G (p.Leu327Val) c.940C>G (p.Leu314Val) n.253C>G c.973C>G (p.Leu325Val) c.850C>G (p.Leu284Val) | |
19 | g.41984971G>T | CA406052329 | ATP1A3 | c.979C>A (p.Leu327Ile) c.940C>A (p.Leu314Ile) n.253C>A c.973C>A (p.Leu325Ile) c.850C>A (p.Leu284Ile) | |
19 | g.41984972G>A | CA507695400 | ATP1A3 | c.978C>T (p.Phe326=) c.939C>T (p.Phe313=) n.252C>T c.972C>T (p.Phe324=) c.849C>T (p.Phe283=) | COSMIC |
19 | g.41984972G>C | CA406052332 | ATP1A3 | c.978C>G (p.Phe326Leu) c.939C>G (p.Phe313Leu) n.252C>G c.972C>G (p.Phe324Leu) c.849C>G (p.Phe283Leu) | |
19 | g.41984972G>T | CA406052335 | ATP1A3 | c.978C>A (p.Phe326Leu) c.939C>A (p.Phe313Leu) n.252C>A c.972C>A (p.Phe324Leu) c.849C>A (p.Phe283Leu) | |
19 | g.41984973A>C | CA406052337 | ATP1A3 | c.977T>G (p.Phe326Cys) c.938T>G (p.Phe313Cys) n.251T>G c.971T>G (p.Phe324Cys) c.848T>G (p.Phe283Cys) | |
19 | g.41984973A>G | CA406052340 | ATP1A3 | c.977T>C (p.Phe326Ser) c.938T>C (p.Phe313Ser) n.251T>C c.971T>C (p.Phe324Ser) c.848T>C (p.Phe283Ser) | |
19 | g.41984973A>T | CA406052341 | ATP1A3 | c.977T>A (p.Phe326Tyr) c.938T>A (p.Phe313Tyr) n.251T>A c.971T>A (p.Phe324Tyr) c.848T>A (p.Phe283Tyr) | |
19 | g.41984974A>C | CA406052349 | ATP1A3 | c.976T>G (p.Phe326Val) c.937T>G (p.Phe313Val) n.250T>G c.970T>G (p.Phe324Val) c.847T>G (p.Phe283Val) | |
19 | g.41984974A>G | CA406052345 | ATP1A3 | c.976T>C (p.Phe326Leu) c.937T>C (p.Phe313Leu) n.250T>C c.970T>C (p.Phe324Leu) c.847T>C (p.Phe283Leu) | |
19 | g.41984974A>T | CA406052347 | ATP1A3 | c.976T>A (p.Phe326Ile) c.937T>A (p.Phe313Ile) n.250T>A c.970T>A (p.Phe324Ile) c.847T>A (p.Phe283Ile) | |
19 | g.41984975G>A | CA507695401 | ATP1A3 | c.975C>T (p.Ile325=) c.936C>T (p.Ile312=) n.249C>T c.969C>T (p.Ile323=) c.846C>T (p.Ile282=) | |
19 | g.41984975G>C | CA406052351 | ATP1A3 | c.975C>G (p.Ile325Met) c.936C>G (p.Ile312Met) n.249C>G c.969C>G (p.Ile323Met) c.846C>G (p.Ile282Met) | |
19 | g.41984975G= | CA2336727989 | ATP1A3 | c.975C= (p.Ile325=) c.936C= (p.Ile312=) n.249C= c.969C= (p.Ile323=) c.846C= (p.Ile282=) | |
19 | g.41984975G>T | CA308597208 | ATP1A3 | c.975C>A (p.Ile325=) c.936C>A (p.Ile312=) n.249C>A c.969C>A (p.Ile323=) c.846C>A (p.Ile282=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41984976A>C | CA406052356 | ATP1A3 | c.974T>G (p.Ile325Ser) c.935T>G (p.Ile312Ser) n.248T>G c.968T>G (p.Ile323Ser) c.845T>G (p.Ile282Ser) | |
19 | g.41984976A>G | CA406052359 | ATP1A3 | c.974T>C (p.Ile325Thr) c.935T>C (p.Ile312Thr) n.248T>C c.968T>C (p.Ile323Thr) c.845T>C (p.Ile282Thr) | |
19 | g.41984976A>T | CA406052362 | ATP1A3 | c.974T>A (p.Ile325Asn) c.935T>A (p.Ile312Asn) n.248T>A c.968T>A (p.Ile323Asn) c.845T>A (p.Ile282Asn) | |
19 | g.41984977T>A | CA406052363 | ATP1A3 | c.973A>T (p.Ile325Phe) c.934A>T (p.Ile312Phe) n.247A>T c.967A>T (p.Ile323Phe) c.844A>T (p.Ile282Phe) | |
19 | g.41984977T>C | CA406052366 | ATP1A3 | c.973A>G (p.Ile325Val) c.934A>G (p.Ile312Val) n.247A>G c.967A>G (p.Ile323Val) c.844A>G (p.Ile282Val) | |
19 | g.41984977T>G | CA406052369 | ATP1A3 | c.973A>C (p.Ile325Leu) c.934A>C (p.Ile312Leu) n.247A>C c.967A>C (p.Ile323Leu) c.844A>C (p.Ile282Leu) | |
19 | g.41984978G>A | CA507695402 | ATP1A3 | c.972C>T (p.Val324=) c.933C>T (p.Val311=) n.246C>T c.966C>T (p.Val322=) c.843C>T (p.Val281=) | |
19 | g.41984978G>C | CA507695403 | ATP1A3 | c.972C>G (p.Val324=) c.933C>G (p.Val311=) n.246C>G c.966C>G (p.Val322=) c.843C>G (p.Val281=) | |
19 | g.41984978G= | CA2336727990 | ATP1A3 | c.972C= (p.Val324=) c.933C= (p.Val311=) n.246C= c.966C= (p.Val322=) c.843C= (p.Val281=) | |
19 | g.41984978G>T | CA507695404 | ATP1A3 | c.972C>A (p.Val324=) c.933C>A (p.Val311=) n.246C>A c.966C>A (p.Val322=) c.843C>A (p.Val281=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41984979A>C | CA406052372 | ATP1A3 | c.971T>G (p.Val324Gly) c.932T>G (p.Val311Gly) n.245T>G c.965T>G (p.Val322Gly) c.842T>G (p.Val281Gly) | |
19 | g.41984979A>G | CA406052375 | ATP1A3 | c.971T>C (p.Val324Ala) c.932T>C (p.Val311Ala) n.245T>C c.965T>C (p.Val322Ala) c.842T>C (p.Val281Ala) | |
19 | g.41984979A>T | CA406052377 | ATP1A3 | c.971T>A (p.Val324Asp) c.932T>A (p.Val311Asp) n.245T>A c.965T>A (p.Val322Asp) c.842T>A (p.Val281Asp) | |
19 | g.41984980C>A | CA406052384 | ATP1A3 | c.970G>T (p.Val324Phe) c.931G>T (p.Val311Phe) n.244G>T c.964G>T (p.Val322Phe) c.841G>T (p.Val281Phe) | |
19 | g.41984980C= | CA2336727991 | ATP1A3 | c.970G= (p.Val324=) c.931G= (p.Val311=) n.244G= c.964G= (p.Val322=) c.841G= (p.Val281=) | |
19 | g.41984980C>G | CA406052381 | ATP1A3 | c.970G>C (p.Val324Leu) c.931G>C (p.Val311Leu) n.244G>C c.964G>C (p.Val322Leu) c.841G>C (p.Val281Leu) | |
19 | g.41984980C>T | CA9467761 | ATP1A3 | c.970G>A (p.Val324Ile) c.931G>A (p.Val311Ile) n.244G>A c.964G>A (p.Val322Ile) c.841G>A (p.Val281Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41984981A>C | CA507695405 | ATP1A3 | c.969T>G (p.Ala323=) c.930T>G (p.Ala310=) n.243T>G c.963T>G (p.Ala321=) c.840T>G (p.Ala280=) | |
19 | g.41984981A>G | CA507695406 | ATP1A3 | c.969T>C (p.Ala323=) c.930T>C (p.Ala310=) n.243T>C c.963T>C (p.Ala321=) c.840T>C (p.Ala280=) | |
19 | g.41984981A>T | CA507695407 | ATP1A3 | c.969T>A (p.Ala323=) c.930T>A (p.Ala310=) n.243T>A c.963T>A (p.Ala321=) c.840T>A (p.Ala280=) | |
19 | g.41984982G>A | CA406052388 | ATP1A3 | c.968C>T (p.Ala323Val) c.929C>T (p.Ala310Val) n.242C>T c.962C>T (p.Ala321Val) c.839C>T (p.Ala280Val) | |
19 | g.41984982G>C | CA406052389 | ATP1A3 | c.968C>G (p.Ala323Gly) c.929C>G (p.Ala310Gly) n.242C>G c.962C>G (p.Ala321Gly) c.839C>G (p.Ala280Gly) | |
19 | g.41984982G>T | CA406052393 | ATP1A3 | c.968C>A (p.Ala323Asp) c.929C>A (p.Ala310Asp) n.242C>A c.962C>A (p.Ala321Asp) c.839C>A (p.Ala280Asp) | |
19 | g.41984983C>A | CA406052396 | ATP1A3 | c.967G>T (p.Ala323Ser) c.928G>T (p.Ala310Ser) n.241G>T c.961G>T (p.Ala321Ser) c.838G>T (p.Ala280Ser) | |
19 | g.41984983C>G | CA406052399 | ATP1A3 | c.967G>C (p.Ala323Pro) c.928G>C (p.Ala310Pro) n.241G>C c.961G>C (p.Ala321Pro) c.838G>C (p.Ala280Pro) | |
19 | g.41984983C>T | CA406052403 | ATP1A3 | c.967G>A (p.Ala323Thr) c.928G>A (p.Ala310Thr) n.241G>A c.961G>A (p.Ala321Thr) c.838G>A (p.Ala280Thr) | |
19 | g.41984984C>A | CA406052408 | ATP1A3 | c.966G>T (p.Glu322Asp) c.927G>T (p.Glu309Asp) n.240G>T c.960G>T (p.Glu320Asp) c.837G>T (p.Glu279Asp) | |
19 | g.41984984C= | CA2336727992 | ATP1A3 | c.966G= (p.Glu322=) c.927G= (p.Glu309=) n.240G= c.960G= (p.Glu320=) c.837G= (p.Glu279=) | |
19 | g.41984984C>G | CA406052406 | ATP1A3 | c.966G>C (p.Glu322Asp) c.927G>C (p.Glu309Asp) n.240G>C c.960G>C (p.Glu320Asp) c.837G>C (p.Glu279Asp) | |
19 | g.41984984C>T | CA507695408 | ATP1A3 | c.966G>A (p.Glu322=) c.927G>A (p.Glu309=) n.240G>A c.960G>A (p.Glu320=) c.837G>A (p.Glu279=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41984985T>A | CA406052410 | ATP1A3 | c.965A>T (p.Glu322Val) c.926A>T (p.Glu309Val) n.239A>T c.959A>T (p.Glu320Val) c.836A>T (p.Glu279Val) | |
19 | g.41984985T>C | CA406052411 | ATP1A3 | c.965A>G (p.Glu322Gly) c.926A>G (p.Glu309Gly) n.239A>G c.959A>G (p.Glu320Gly) c.836A>G (p.Glu279Gly) | |
19 | g.41984985T>G | CA406052413 | ATP1A3 | c.965A>C (p.Glu322Ala) c.926A>C (p.Glu309Ala) n.239A>C c.959A>C (p.Glu320Ala) c.836A>C (p.Glu279Ala) | |
19 | g.41984986C>A | CA406052416 | ATP1A3 | c.964G>T (p.Glu322Ter) c.925G>T (p.Glu309Ter) n.238G>T c.958G>T (p.Glu320Ter) c.835G>T (p.Glu279Ter) | |
19 | g.41984986C>G | CA406052419 | ATP1A3 | c.964G>C (p.Glu322Gln) c.925G>C (p.Glu309Gln) n.238G>C c.958G>C (p.Glu320Gln) c.835G>C (p.Glu279Gln) | |
19 | g.41984986C>T | CA406052420 | ATP1A3 | c.964G>A (p.Glu322Lys) c.925G>A (p.Glu309Lys) n.238G>A c.958G>A (p.Glu320Lys) c.835G>A (p.Glu279Lys) | dbSNP |
19 | g.41984987A>C | CA507695409 | ATP1A3 | c.963T>G (p.Leu321=) c.924T>G (p.Leu308=) n.237T>G c.957T>G (p.Leu319=) c.834T>G (p.Leu278=) | |
19 | g.41984987A>G | CA507695410 | ATP1A3 | c.963T>C (p.Leu321=) c.924T>C (p.Leu308=) n.237T>C c.957T>C (p.Leu319=) c.834T>C (p.Leu278=) | |
19 | g.41984987A>T | CA507695411 | ATP1A3 | c.963T>A (p.Leu321=) c.924T>A (p.Leu308=) n.237T>A c.957T>A (p.Leu319=) c.834T>A (p.Leu278=) | gnomAD v4 |