Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41970172_41970178delinsCCCGGTGCA2336721071ATP1A3c.2581+7_2581+13delinsCACCGGG (n.2581+7_2581+13delinsCACCGGG)
c.2542+7_2542+13delinsCACCGGG (n.2542+7_2542+13delinsCACCGGG)
c.2575+7_2575+13delinsCACCGGG (n.2575+7_2575+13delinsCACCGGG)
c.2452+7_2452+13delinsCACCGGG (n.2452+7_2452+13delinsCACCGGG)
19g.41970175_41970180delCA2336721073ATP1A3c.2581+7_2581+12del (n.2581+7_2581+12del)
c.2542+7_2542+12del (n.2542+7_2542+12del)
c.2575+7_2575+12del (n.2575+7_2575+12del)
c.2452+7_2452+12del (n.2452+7_2452+12del)
 dbSNP
19g.41970175G>ACA9467365ATP1A3c.2581+10C>T (n.2581+10C>T)
c.2542+10C>T (n.2542+10C>T)
c.2575+10C>T (n.2575+10C>T)
c.2452+10C>T (n.2452+10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970175G>CCA633471469ATP1A3c.2581+10C>G (n.2581+10C>G)
c.2542+10C>G (n.2542+10C>G)
c.2575+10C>G (n.2575+10C>G)
c.2452+10C>G (n.2452+10C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41970175G=CA2336721077ATP1A3c.2581+10C= (n.2581+10C=)
c.2542+10C= (n.2542+10C=)
c.2575+10C= (n.2575+10C=)
c.2452+10C= (n.2452+10C=)
19g.41970179C>ACA2585368926ATP1A3c.2581+6G>T (n.2581+6G>T)
c.2542+6G>T (n.2542+6G>T)
c.2575+6G>T (n.2575+6G>T)
c.2452+6G>T (n.2452+6G>T)
 gnomAD v4
19g.41970180C>GCA2814451248ATP1A3c.2581+5G>C (n.2581+5G>C)
c.2542+5G>C (n.2542+5G>C)
c.2575+5G>C (n.2575+5G>C)
c.2452+5G>C (n.2452+5G>C)
19g.41970182C=CA2336721079ATP1A3c.2581+3G= (n.2581+3G=)
c.2542+3G= (n.2542+3G=)
c.2575+3G= (n.2575+3G=)
c.2452+3G= (n.2452+3G=)
19g.41970182C>TCA9467366ATP1A3c.2581+3G>A (n.2581+3G>A)
c.2542+3G>A (n.2542+3G>A)
c.2575+3G>A (n.2575+3G>A)
c.2452+3G>A (n.2452+3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41970183A>CCA406038524ATP1A3c.2581+2T>G (n.2581+2T>G)
c.2542+2T>G (n.2542+2T>G)
c.2575+2T>G (n.2575+2T>G)
c.2452+2T>G (n.2452+2T>G)
19g.41970183A>GCA406038522ATP1A3c.2581+2T>C (n.2581+2T>C)
c.2542+2T>C (n.2542+2T>C)
c.2575+2T>C (n.2575+2T>C)
c.2452+2T>C (n.2452+2T>C)
19g.41970183A>TCA406038526ATP1A3c.2581+2T>A (n.2581+2T>A)
c.2542+2T>A (n.2542+2T>A)
c.2575+2T>A (n.2575+2T>A)
c.2452+2T>A (n.2452+2T>A)
19g.41970184C>ACA406038528ATP1A3c.2581+1G>T (n.2581+1G>T)
c.2542+1G>T (n.2542+1G>T)
c.2575+1G>T (n.2575+1G>T)
c.2452+1G>T (n.2452+1G>T)
19g.41970184C=CA2336721081ATP1A3c.2581+1G= (n.2581+1G=)
c.2542+1G= (n.2542+1G=)
c.2575+1G= (n.2575+1G=)
c.2452+1G= (n.2452+1G=)
19g.41970184C>GCA406038530ATP1A3c.2581+1G>C (n.2581+1G>C)
c.2542+1G>C (n.2542+1G>C)
c.2575+1G>C (n.2575+1G>C)
c.2452+1G>C (n.2452+1G>C)
 ClinVar dbSNP
19g.41970184C>TCA346031ATP1A3c.2581+1G>A (n.2581+1G>A)
c.2542+1G>A (n.2542+1G>A)
c.2575+1G>A (n.2575+1G>A)
c.2452+1G>A (n.2452+1G>A)
 ClinVar dbSNP
19g.41970185C>ACA406038533ATP1A3c.2581G>T (p.Gly861Ter)
c.2542G>T (p.Gly848Ter)
c.2575G>T (p.Gly859Ter)
c.2452G>T (p.Gly818Ter)
19g.41970185C>GCA406038535ATP1A3c.2581G>C (p.Gly861Arg)
c.2542G>C (p.Gly848Arg)
c.2575G>C (p.Gly859Arg)
c.2452G>C (p.Gly818Arg)
19g.41970185C>TCA406038536ATP1A3c.2581G>A (p.Gly861Arg)
c.2542G>A (p.Gly848Arg)
c.2575G>A (p.Gly859Arg)
c.2452G>A (p.Gly818Arg)
19g.41970186A>CCA406038538ATP1A3c.2580T>G (p.Ile860Met)
c.2541T>G (p.Ile847Met)
c.2574T>G (p.Ile858Met)
c.2451T>G (p.Ile817Met)
19g.41970186A>GCA507694607ATP1A3c.2580T>C (p.Ile860=)
c.2541T>C (p.Ile847=)
c.2574T>C (p.Ile858=)
c.2451T>C (p.Ile817=)
19g.41970186A>TCA507694606ATP1A3c.2580T>A (p.Ile860=)
c.2541T>A (p.Ile847=)
c.2574T>A (p.Ile858=)
c.2451T>A (p.Ile817=)
19g.41970187A>CCA406038540ATP1A3c.2579T>G (p.Ile860Ser)
c.2540T>G (p.Ile847Ser)
c.2573T>G (p.Ile858Ser)
c.2450T>G (p.Ile817Ser)
19g.41970187A>GCA406038542ATP1A3c.2579T>C (p.Ile860Thr)
c.2540T>C (p.Ile847Thr)
c.2573T>C (p.Ile858Thr)
c.2450T>C (p.Ile817Thr)
19g.41970187A>TCA406038543ATP1A3c.2579T>A (p.Ile860Asn)
c.2540T>A (p.Ile847Asn)
c.2573T>A (p.Ile858Asn)
c.2450T>A (p.Ile817Asn)
19g.41970188T>ACA406038550ATP1A3c.2578A>T (p.Ile860Phe)
c.2539A>T (p.Ile847Phe)
c.2572A>T (p.Ile858Phe)
c.2449A>T (p.Ile817Phe)
19g.41970188T>CCA406038548ATP1A3c.2578A>G (p.Ile860Val)
c.2539A>G (p.Ile847Val)
c.2572A>G (p.Ile858Val)
c.2449A>G (p.Ile817Val)
19g.41970188T>GCA406038546ATP1A3c.2578A>C (p.Ile860Leu)
c.2539A>C (p.Ile847Leu)
c.2572A>C (p.Ile858Leu)
c.2449A>C (p.Ile817Leu)
19g.41970189C>ACA406038552ATP1A3c.2577G>T (p.Gln859His)
c.2538G>T (p.Gln846His)
c.2571G>T (p.Gln857His)
c.2448G>T (p.Gln816His)
19g.41970189C>GCA406038554ATP1A3c.2577G>C (p.Gln859His)
c.2538G>C (p.Gln846His)
c.2571G>C (p.Gln857His)
c.2448G>C (p.Gln816His)
 gnomAD v4
19g.41970189C>TCA507694609ATP1A3c.2577G>A (p.Gln859=)
c.2538G>A (p.Gln846=)
c.2571G>A (p.Gln857=)
c.2448G>A (p.Gln816=)
19g.41970190T>ACA406038556ATP1A3c.2576A>T (p.Gln859Leu)
c.2537A>T (p.Gln846Leu)
c.2570A>T (p.Gln857Leu)
c.2447A>T (p.Gln816Leu)
19g.41970190T>CCA406038558ATP1A3c.2576A>G (p.Gln859Arg)
c.2537A>G (p.Gln846Arg)
c.2570A>G (p.Gln857Arg)
c.2447A>G (p.Gln816Arg)
19g.41970190T>GCA406038560ATP1A3c.2576A>C (p.Gln859Pro)
c.2537A>C (p.Gln846Pro)
c.2570A>C (p.Gln857Pro)
c.2447A>C (p.Gln816Pro)
19g.41970191G>ACA406038562ATP1A3c.2575C>T (p.Gln859Ter)
c.2536C>T (p.Gln846Ter)
c.2569C>T (p.Gln857Ter)
c.2446C>T (p.Gln816Ter)
19g.41970191G>CCA406038564ATP1A3c.2575C>G (p.Gln859Glu)
c.2536C>G (p.Gln846Glu)
c.2569C>G (p.Gln857Glu)
c.2446C>G (p.Gln816Glu)
19g.41970191G>TCA406038566ATP1A3c.2575C>A (p.Gln859Lys)
c.2536C>A (p.Gln846Lys)
c.2569C>A (p.Gln857Lys)
c.2446C>A (p.Gln816Lys)
19g.41970192C>ACA507694612ATP1A3c.2574G>T (p.Gly858=)
c.2535G>T (p.Gly845=)
c.2568G>T (p.Gly856=)
c.2445G>T (p.Gly815=)
19g.41970192C>GCA507694613ATP1A3c.2574G>C (p.Gly858=)
c.2535G>C (p.Gly845=)
c.2568G>C (p.Gly856=)
c.2445G>C (p.Gly815=)
19g.41970192C>TCA507694614ATP1A3c.2574G>A (p.Gly858=)
c.2535G>A (p.Gly845=)
c.2568G>A (p.Gly856=)
c.2445G>A (p.Gly815=)
19g.41970193C>ACA406038568ATP1A3c.2573G>T (p.Gly858Val)
c.2534G>T (p.Gly845Val)
c.2567G>T (p.Gly856Val)
c.2444G>T (p.Gly815Val)
19g.41970193C>GCA406038569ATP1A3c.2573G>C (p.Gly858Ala)
c.2534G>C (p.Gly845Ala)
c.2567G>C (p.Gly856Ala)
c.2444G>C (p.Gly815Ala)
19g.41970193C>TCA406038571ATP1A3c.2573G>A (p.Gly858Glu)
c.2534G>A (p.Gly845Glu)
c.2567G>A (p.Gly856Glu)
c.2444G>A (p.Gly815Glu)
 gnomAD v4
19g.41970194C>ACA406038579ATP1A3c.2572G>T (p.Gly858Trp)
c.2533G>T (p.Gly845Trp)
c.2566G>T (p.Gly856Trp)
c.2443G>T (p.Gly815Trp)
19g.41970194C=CA2336721083ATP1A3c.2572G= (p.Gly858=)
c.2533G= (p.Gly845=)
c.2566G= (p.Gly856=)
c.2443G= (p.Gly815=)
19g.41970194C>GCA406038580ATP1A3c.2572G>C (p.Gly858Arg)
c.2533G>C (p.Gly845Arg)
c.2566G>C (p.Gly856Arg)
c.2443G>C (p.Gly815Arg)
19g.41970194C>TCA406038574ATP1A3c.2572G>A (p.Gly858Arg)
c.2533G>A (p.Gly845Arg)
c.2566G>A (p.Gly856Arg)
c.2443G>A (p.Gly815Arg)
 ClinVar dbSNP gnomAD v4 COSMIC
19g.41970195G>ACA9467367ATP1A3c.2571C>T (p.Tyr857=)
c.2532C>T (p.Tyr844=)
c.2565C>T (p.Tyr855=)
c.2442C>T (p.Tyr814=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41970195G>CCA406038581ATP1A3c.2571C>G (p.Tyr857Ter)
c.2532C>G (p.Tyr844Ter)
c.2565C>G (p.Tyr855Ter)
c.2442C>G (p.Tyr814Ter)
19g.41970195G=CA2336721084ATP1A3c.2571C= (p.Tyr857=)
c.2532C= (p.Tyr844=)
c.2565C= (p.Tyr855=)
c.2442C= (p.Tyr814=)

Number of alleles fetched