Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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) | |
19 | g.41970230T>A | CA406038726 | ATP1A3 | c.2536A>T (p.Lys846Ter) c.2497A>T (p.Lys833Ter) c.2530A>T (p.Lys844Ter) c.2407A>T (p.Lys803Ter) | |
19 | g.41970230T>C | CA406038727 | ATP1A3 | c.2536A>G (p.Lys846Glu) c.2497A>G (p.Lys833Glu) c.2530A>G (p.Lys844Glu) c.2407A>G (p.Lys803Glu) | |
19 | g.41970230T>G | CA406038724 | ATP1A3 | c.2536A>C (p.Lys846Gln) c.2497A>C (p.Lys833Gln) c.2530A>C (p.Lys844Gln) c.2407A>C (p.Lys803Gln) | |
19 | g.41970231G>A | CA507694697 | ATP1A3 | c.2535C>T (p.Asp845=) c.2496C>T (p.Asp832=) c.2529C>T (p.Asp843=) c.2406C>T (p.Asp802=) | ClinVar |
19 | g.41970231G>C | CA406038731 | ATP1A3 | c.2535C>G (p.Asp845Glu) c.2496C>G (p.Asp832Glu) c.2529C>G (p.Asp843Glu) c.2406C>G (p.Asp802Glu) | |
19 | g.41970231G>T | CA406038730 | ATP1A3 | c.2535C>A (p.Asp845Glu) c.2496C>A (p.Asp832Glu) c.2529C>A (p.Asp843Glu) c.2406C>A (p.Asp802Glu) | |
19 | g.41970232T>A | CA406038733 | ATP1A3 | c.2534A>T (p.Asp845Val) c.2495A>T (p.Asp832Val) c.2528A>T (p.Asp843Val) c.2405A>T (p.Asp802Val) | |
19 | g.41970232T>C | CA406038735 | ATP1A3 | c.2534A>G (p.Asp845Gly) c.2495A>G (p.Asp832Gly) c.2528A>G (p.Asp843Gly) c.2405A>G (p.Asp802Gly) | |
19 | g.41970232T>G | CA406038737 | ATP1A3 | c.2534A>C (p.Asp845Ala) c.2495A>C (p.Asp832Ala) c.2528A>C (p.Asp843Ala) c.2405A>C (p.Asp802Ala) | |
19 | g.41970233C>A | CA406038739 | ATP1A3 | c.2533G>T (p.Asp845Tyr) c.2494G>T (p.Asp832Tyr) c.2527G>T (p.Asp843Tyr) c.2404G>T (p.Asp802Tyr) | |
19 | g.41970233C>G | CA406038741 | ATP1A3 | c.2533G>C (p.Asp845His) c.2494G>C (p.Asp832His) c.2527G>C (p.Asp843His) c.2404G>C (p.Asp802His) | |
19 | g.41970233C>T | CA406038744 | ATP1A3 | c.2533G>A (p.Asp845Asn) c.2494G>A (p.Asp832Asn) c.2527G>A (p.Asp843Asn) c.2404G>A (p.Asp802Asn) | COSMIC |
19 | g.41970234C>A | CA507694701 | ATP1A3 | c.2532G>T (p.Thr844=) c.2493G>T (p.Thr831=) c.2526G>T (p.Thr842=) c.2403G>T (p.Thr801=) | |
19 | g.41970234C= | CA2336721132 | ATP1A3 | c.2532G= (p.Thr844=) c.2493G= (p.Thr831=) c.2526G= (p.Thr842=) c.2403G= (p.Thr801=) | |
19 | g.41970234C>G | CA9467369 | ATP1A3 | c.2532G>C (p.Thr844=) c.2493G>C (p.Thr831=) c.2526G>C (p.Thr842=) c.2403G>C (p.Thr801=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970234C>T | CA9467370 | ATP1A3 | c.2532G>A (p.Thr844=) c.2493G>A (p.Thr831=) c.2526G>A (p.Thr842=) c.2403G>A (p.Thr801=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970235G>A | CA9467371 | ATP1A3 | c.2531C>T (p.Thr844Met) c.2492C>T (p.Thr831Met) c.2525C>T (p.Thr842Met) c.2402C>T (p.Thr801Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.41970235G>C | CA406038749 | ATP1A3 | c.2531C>G (p.Thr844Arg) c.2492C>G (p.Thr831Arg) c.2525C>G (p.Thr842Arg) c.2402C>G (p.Thr801Arg) | |
19 | g.41970235G= | CA2336721139 | ATP1A3 | c.2531C= (p.Thr844=) c.2492C= (p.Thr831=) c.2525C= (p.Thr842=) c.2402C= (p.Thr801=) | |
19 | g.41970235G>T | CA406038751 | ATP1A3 | c.2531C>A (p.Thr844Lys) c.2492C>A (p.Thr831Lys) c.2525C>A (p.Thr842Lys) c.2402C>A (p.Thr801Lys) | |
19 | g.41970236T>A | CA406038752 | ATP1A3 | c.2530A>T (p.Thr844Ser) c.2491A>T (p.Thr831Ser) c.2524A>T (p.Thr842Ser) c.2401A>T (p.Thr801Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41970236T>C | CA406038754 | ATP1A3 | c.2530A>G (p.Thr844Ala) c.2491A>G (p.Thr831Ala) c.2524A>G (p.Thr842Ala) c.2401A>G (p.Thr801Ala) | |
19 | g.41970236T>G | CA406038756 | ATP1A3 | c.2530A>C (p.Thr844Pro) c.2491A>C (p.Thr831Pro) c.2524A>C (p.Thr842Pro) c.2401A>C (p.Thr801Pro) | |
19 | g.41970236T= | CA2336721142 | ATP1A3 | c.2530A= (p.Thr844=) c.2491A= (p.Thr831=) c.2524A= (p.Thr842=) c.2401A= (p.Thr801=) | |
19 | g.41970237C>A | CA507694706 | ATP1A3 | c.2529G>T (p.Arg843=) c.2490G>T (p.Arg830=) c.2523G>T (p.Arg841=) c.2400G>T (p.Arg800=) | |
19 | g.41970237C>G | CA507694707 | ATP1A3 | c.2529G>C (p.Arg843=) c.2490G>C (p.Arg830=) c.2523G>C (p.Arg841=) c.2400G>C (p.Arg800=) | |
19 | g.41970237C>T | CA507694705 | ATP1A3 | c.2529G>A (p.Arg843=) c.2490G>A (p.Arg830=) c.2523G>A (p.Arg841=) c.2400G>A (p.Arg800=) | |
19 | g.41970238C>A | CA406038758 | ATP1A3 | c.2528G>T (p.Arg843Leu) c.2489G>T (p.Arg830Leu) c.2522G>T (p.Arg841Leu) c.2399G>T (p.Arg800Leu) | |
19 | g.41970238C= | CA2336721149 | ATP1A3 | c.2528G= (p.Arg843=) c.2489G= (p.Arg830=) c.2522G= (p.Arg841=) c.2399G= (p.Arg800=) | |
19 | g.41970238C>G | CA406038762 | ATP1A3 | c.2528G>C (p.Arg843Pro) c.2489G>C (p.Arg830Pro) c.2522G>C (p.Arg841Pro) c.2399G>C (p.Arg800Pro) | |
19 | g.41970238C>T | CA9467372 | ATP1A3 | c.2528G>A (p.Arg843Gln) c.2489G>A (p.Arg830Gln) c.2522G>A (p.Arg841Gln) c.2399G>A (p.Arg800Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41970239G>A | CA406038764 | ATP1A3 | c.2527C>T (p.Arg843Trp) c.2488C>T (p.Arg830Trp) c.2521C>T (p.Arg841Trp) c.2398C>T (p.Arg800Trp) | gnomAD v4 |
19 | g.41970239G>C | CA9467373 | ATP1A3 | c.2527C>G (p.Arg843Gly) c.2488C>G (p.Arg830Gly) c.2521C>G (p.Arg841Gly) c.2398C>G (p.Arg800Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970239G= | CA2336721151 | ATP1A3 | c.2527C= (p.Arg843=) c.2488C= (p.Arg830=) c.2521C= (p.Arg841=) c.2398C= (p.Arg800=) | |
19 | g.41970239G>T | CA507694708 | ATP1A3 | c.2527C>A (p.Arg843=) c.2488C>A (p.Arg830=) c.2521C>A (p.Arg841=) c.2398C>A (p.Arg800=) | ClinVar dbSNP gnomAD v4 |
19 | g.41970240C>A | CA507694710 | ATP1A3 | c.2526G>T (p.Pro842=) c.2487G>T (p.Pro829=) c.2520G>T (p.Pro840=) c.2397G>T (p.Pro799=) | |
19 | g.41970240C= | CA2336721154 | ATP1A3 | c.2526G= (p.Pro842=) c.2487G= (p.Pro829=) c.2520G= (p.Pro840=) c.2397G= (p.Pro799=) | |
19 | g.41970240C>G | CA507694709 | ATP1A3 | c.2526G>C (p.Pro842=) c.2487G>C (p.Pro829=) c.2520G>C (p.Pro840=) c.2397G>C (p.Pro799=) | |
19 | g.41970240C>T | CA9467374 | ATP1A3 | c.2526G>A (p.Pro842=) c.2487G>A (p.Pro829=) c.2520G>A (p.Pro840=) c.2397G>A (p.Pro799=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970241G>A | CA406038768 | ATP1A3 | c.2525C>T (p.Pro842Leu) c.2486C>T (p.Pro829Leu) c.2519C>T (p.Pro840Leu) c.2396C>T (p.Pro799Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.41970241G>C | CA406038769 | ATP1A3 | c.2525C>G (p.Pro842Arg) c.2486C>G (p.Pro829Arg) c.2519C>G (p.Pro840Arg) c.2396C>G (p.Pro799Arg) | |
19 | g.41970241G>T | CA406038771 | ATP1A3 | c.2525C>A (p.Pro842Gln) c.2486C>A (p.Pro829Gln) c.2519C>A (p.Pro840Gln) c.2396C>A (p.Pro799Gln) | |
19 | g.41970242G>A | CA406038774 | ATP1A3 | c.2524C>T (p.Pro842Ser) c.2485C>T (p.Pro829Ser) c.2518C>T (p.Pro840Ser) c.2395C>T (p.Pro799Ser) | |
19 | g.41970242G>C | CA406038775 | ATP1A3 | c.2524C>G (p.Pro842Ala) c.2485C>G (p.Pro829Ala) c.2518C>G (p.Pro840Ala) c.2395C>G (p.Pro799Ala) | |
19 | g.41970242G>T | CA406038777 | ATP1A3 | c.2524C>A (p.Pro842Thr) c.2485C>A (p.Pro829Thr) c.2518C>A (p.Pro840Thr) c.2395C>A (p.Pro799Thr) | |
19 | g.41970243G>A | CA507694712 | ATP1A3 | c.2523C>T (p.Asn841=) c.2484C>T (p.Asn828=) c.2517C>T (p.Asn839=) c.2394C>T (p.Asn798=) | |
19 | g.41970243G>C | CA406038779 | ATP1A3 | c.2523C>G (p.Asn841Lys) c.2484C>G (p.Asn828Lys) c.2517C>G (p.Asn839Lys) c.2394C>G (p.Asn798Lys) | |
19 | g.41970243G>T | CA406038781 | ATP1A3 | c.2523C>A (p.Asn841Lys) c.2484C>A (p.Asn828Lys) c.2517C>A (p.Asn839Lys) c.2394C>A (p.Asn798Lys) | |
19 | g.41970244T>A | CA406038784 | ATP1A3 | c.2522A>T (p.Asn841Ile) c.2483A>T (p.Asn828Ile) c.2516A>T (p.Asn839Ile) c.2393A>T (p.Asn798Ile) | |
19 | g.41970244T>C | CA406038787 | ATP1A3 | c.2522A>G (p.Asn841Ser) c.2483A>G (p.Asn828Ser) c.2516A>G (p.Asn839Ser) c.2393A>G (p.Asn798Ser) | |
19 | g.41970244T>G | CA406038786 | ATP1A3 | c.2522A>C (p.Asn841Thr) c.2483A>C (p.Asn828Thr) c.2516A>C (p.Asn839Thr) c.2393A>C (p.Asn798Thr) | ClinVar |
19 | g.41970245T>A | CA406038790 | ATP1A3 | c.2521A>T (p.Asn841Tyr) c.2482A>T (p.Asn828Tyr) c.2515A>T (p.Asn839Tyr) c.2392A>T (p.Asn798Tyr) | |
19 | g.41970245T>C | CA406038791 | ATP1A3 | c.2521A>G (p.Asn841Asp) c.2482A>G (p.Asn828Asp) c.2515A>G (p.Asn839Asp) c.2392A>G (p.Asn798Asp) | |
19 | g.41970245T>G | CA406038793 | ATP1A3 | c.2521A>C (p.Asn841His) c.2482A>C (p.Asn828His) c.2515A>C (p.Asn839His) c.2392A>C (p.Asn798His) | |
19 | g.41970246C>A | CA406038794 | ATP1A3 | c.2520G>T (p.Arg840Ser) c.2481G>T (p.Arg827Ser) c.2514G>T (p.Arg838Ser) c.2391G>T (p.Arg797Ser) | |
19 | g.41970246C= | CA2336721157 | ATP1A3 | c.2520G= (p.Arg840=) c.2481G= (p.Arg827=) c.2514G= (p.Arg838=) c.2391G= (p.Arg797=) | |
19 | g.41970246C>G | CA406038796 | ATP1A3 | c.2520G>C (p.Arg840Ser) c.2481G>C (p.Arg827Ser) c.2514G>C (p.Arg838Ser) c.2391G>C (p.Arg797Ser) | |
19 | g.41970246C>T | CA507694715 | ATP1A3 | c.2520G>A (p.Arg840=) c.2481G>A (p.Arg827=) c.2514G>A (p.Arg838=) c.2391G>A (p.Arg797=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.41970247C>A | CA406038798 | ATP1A3 | c.2519G>T (p.Arg840Met) c.2480G>T (p.Arg827Met) c.2513G>T (p.Arg838Met) c.2390G>T (p.Arg797Met) | |
19 | g.41970247C>G | CA406038799 | ATP1A3 | c.2519G>C (p.Arg840Thr) c.2480G>C (p.Arg827Thr) c.2513G>C (p.Arg838Thr) c.2390G>C (p.Arg797Thr) | |
19 | g.41970247C>T | CA406038801 | ATP1A3 | c.2519G>A (p.Arg840Lys) c.2480G>A (p.Arg827Lys) c.2513G>A (p.Arg838Lys) c.2390G>A (p.Arg797Lys) | |
19 | g.41970248T>A | CA406038803 | ATP1A3 | c.2518A>T (p.Arg840Trp) c.2479A>T (p.Arg827Trp) c.2512A>T (p.Arg838Trp) c.2389A>T (p.Arg797Trp) | ClinVar |
19 | g.41970248T>C | CA406038805 | ATP1A3 | c.2518A>G (p.Arg840Gly) c.2479A>G (p.Arg827Gly) c.2512A>G (p.Arg838Gly) c.2389A>G (p.Arg797Gly) | |
19 | g.41970248T>G | CA507694716 | ATP1A3 | c.2518A>C (p.Arg840=) c.2479A>C (p.Arg827=) c.2512A>C (p.Arg838=) c.2389A>C (p.Arg797=) | |
19 | g.41970249G>A | CA507694717 | ATP1A3 | c.2517C>T (p.Pro839=) c.2478C>T (p.Pro826=) c.2511C>T (p.Pro837=) c.2388C>T (p.Pro796=) | |
19 | g.41970249G>C | CA507694718 | ATP1A3 | c.2517C>G (p.Pro839=) c.2478C>G (p.Pro826=) c.2511C>G (p.Pro837=) c.2388C>G (p.Pro796=) | |
19 | g.41970249G>T | CA507694719 | ATP1A3 | c.2517C>A (p.Pro839=) c.2478C>A (p.Pro826=) c.2511C>A (p.Pro837=) c.2388C>A (p.Pro796=) | |
19 | g.41970251dup | CA2840693853 | ATP1A3 | c.2517dup (p.Arg840GlnfsTer11) c.2478dup (p.Arg827GlnfsTer11) c.2511dup (p.Arg838GlnfsTer11) c.2388dup (p.Arg797GlnfsTer11) | |
19 | g.41970250G>A | CA406038808 | ATP1A3 | c.2516C>T (p.Pro839Leu) c.2477C>T (p.Pro826Leu) c.2510C>T (p.Pro837Leu) c.2387C>T (p.Pro796Leu) | COSMIC |
19 | g.41970250G>C | CA406038810 | ATP1A3 | c.2516C>G (p.Pro839Arg) c.2477C>G (p.Pro826Arg) c.2510C>G (p.Pro837Arg) c.2387C>G (p.Pro796Arg) | |
19 | g.41970250G>T | CA406038811 | ATP1A3 | c.2516C>A (p.Pro839His) c.2477C>A (p.Pro826His) c.2510C>A (p.Pro837His) c.2387C>A (p.Pro796His) | |
19 | g.41970251G>A | CA406038814 | ATP1A3 | c.2515C>T (p.Pro839Ser) c.2476C>T (p.Pro826Ser) c.2509C>T (p.Pro837Ser) c.2386C>T (p.Pro796Ser) | |
19 | g.41970251G>C | CA406038818 | ATP1A3 | c.2515C>G (p.Pro839Ala) c.2476C>G (p.Pro826Ala) c.2509C>G (p.Pro837Ala) c.2386C>G (p.Pro796Ala) | |
19 | g.41970251G>T | CA406038816 | ATP1A3 | c.2515C>A (p.Pro839Thr) c.2476C>A (p.Pro826Thr) c.2509C>A (p.Pro837Thr) c.2386C>A (p.Pro796Thr) | |
19 | g.41970252C>A | CA406038820 | ATP1A3 | c.2514G>T (p.Gln838His) c.2475G>T (p.Gln825His) c.2508G>T (p.Gln836His) c.2385G>T (p.Gln795His) | |
19 | g.41970252C>G | CA406038822 | ATP1A3 | c.2514G>C (p.Gln838His) c.2475G>C (p.Gln825His) c.2508G>C (p.Gln836His) c.2385G>C (p.Gln795His) | |
19 | g.41970252C>T | CA507694721 | ATP1A3 | c.2514G>A (p.Gln838=) c.2475G>A (p.Gln825=) c.2508G>A (p.Gln836=) c.2385G>A (p.Gln795=) | |
19 | g.41970253T>A | CA406038824 | ATP1A3 | c.2513A>T (p.Gln838Leu) c.2474A>T (p.Gln825Leu) c.2507A>T (p.Gln836Leu) c.2384A>T (p.Gln795Leu) | |
19 | g.41970253T>C | CA406038826 | ATP1A3 | c.2513A>G (p.Gln838Arg) c.2474A>G (p.Gln825Arg) c.2507A>G (p.Gln836Arg) c.2384A>G (p.Gln795Arg) | dbSNP |
19 | g.41970253T>G | CA406038828 | ATP1A3 | c.2513A>C (p.Gln838Pro) c.2474A>C (p.Gln825Pro) c.2507A>C (p.Gln836Pro) c.2384A>C (p.Gln795Pro) | |
19 | g.41970253T= | CA2336721162 | ATP1A3 | c.2513A= (p.Gln838=) c.2474A= (p.Gln825=) c.2507A= (p.Gln836=) c.2384A= (p.Gln795=) | |
19 | g.41970254G>A | CA406038830 | ATP1A3 | c.2512C>T (p.Gln838Ter) c.2473C>T (p.Gln825Ter) c.2506C>T (p.Gln836Ter) c.2383C>T (p.Gln795Ter) | |
19 | g.41970254G>C | CA406038832 | ATP1A3 | c.2512C>G (p.Gln838Glu) c.2473C>G (p.Gln825Glu) c.2506C>G (p.Gln836Glu) c.2383C>G (p.Gln795Glu) | |
19 | g.41970254G>T | CA406038834 | ATP1A3 | c.2512C>A (p.Gln838Lys) c.2473C>A (p.Gln825Lys) c.2506C>A (p.Gln836Lys) c.2383C>A (p.Gln795Lys) | |
19 | g.41970255T>A | CA406038836 | ATP1A3 | c.2511A>T (p.Arg837Ser) c.2472A>T (p.Arg824Ser) c.2505A>T (p.Arg835Ser) c.2382A>T (p.Arg794Ser) | |
19 | g.41970255T>C | CA507694723 | ATP1A3 | c.2511A>G (p.Arg837=) c.2472A>G (p.Arg824=) c.2505A>G (p.Arg835=) c.2382A>G (p.Arg794=) | |
19 | g.41970255T>G | CA406038838 | ATP1A3 | c.2511A>C (p.Arg837Ser) c.2472A>C (p.Arg824Ser) c.2505A>C (p.Arg835Ser) c.2382A>C (p.Arg794Ser) | |
19 | g.41970256C>A | CA406038842 | ATP1A3 | c.2510G>T (p.Arg837Ile) c.2471G>T (p.Arg824Ile) c.2504G>T (p.Arg835Ile) c.2381G>T (p.Arg794Ile) | |
19 | g.41970256C>G | CA406038843 | ATP1A3 | c.2510G>C (p.Arg837Thr) c.2471G>C (p.Arg824Thr) c.2504G>C (p.Arg835Thr) c.2381G>C (p.Arg794Thr) | |
19 | g.41970256C>T | CA406038840 | ATP1A3 | c.2510G>A (p.Arg837Lys) c.2471G>A (p.Arg824Lys) c.2504G>A (p.Arg835Lys) c.2381G>A (p.Arg794Lys) | |
19 | g.41970257T>A | CA406038848 | ATP1A3 | c.2509A>T (p.Arg837Ter) c.2470A>T (p.Arg824Ter) c.2503A>T (p.Arg835Ter) c.2380A>T (p.Arg794Ter) | |
19 | g.41970257T>C | CA406038846 | ATP1A3 | c.2509A>G (p.Arg837Gly) c.2470A>G (p.Arg824Gly) c.2503A>G (p.Arg835Gly) c.2380A>G (p.Arg794Gly) | |
19 | g.41970257T>G | CA507694726 | ATP1A3 | c.2509A>C (p.Arg837=) c.2470A>C (p.Arg824=) c.2503A>C (p.Arg835=) c.2380A>C (p.Arg794=) | |
19 | g.41970258C>A | CA406038850 | ATP1A3 | c.2508G>T (p.Lys836Asn) c.2469G>T (p.Lys823Asn) c.2502G>T (p.Lys834Asn) c.2379G>T (p.Lys793Asn) | |
19 | g.41970258C= | CA2336721165 | ATP1A3 | c.2508G= (p.Lys836=) c.2469G= (p.Lys823=) c.2502G= (p.Lys834=) c.2379G= (p.Lys793=) | |
19 | g.41970258C>G | CA406038852 | ATP1A3 | c.2508G>C (p.Lys836Asn) c.2469G>C (p.Lys823Asn) c.2502G>C (p.Lys834Asn) c.2379G>C (p.Lys793Asn) | |
19 | g.41970258C>T | CA9467375 | ATP1A3 | c.2508G>A (p.Lys836=) c.2469G>A (p.Lys823=) c.2502G>A (p.Lys834=) c.2379G>A (p.Lys793=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970259T>A | CA406038855 | ATP1A3 | c.2507A>T (p.Lys836Met) c.2468A>T (p.Lys823Met) c.2501A>T (p.Lys834Met) c.2378A>T (p.Lys793Met) | |
19 | g.41970259T>C | CA406038857 | ATP1A3 | c.2507A>G (p.Lys836Arg) c.2468A>G (p.Lys823Arg) c.2501A>G (p.Lys834Arg) c.2378A>G (p.Lys793Arg) | |
19 | g.41970259T>G | CA406038859 | ATP1A3 | c.2507A>C (p.Lys836Thr) c.2468A>C (p.Lys823Thr) c.2501A>C (p.Lys834Thr) c.2378A>C (p.Lys793Thr) | |
19 | g.41970260T>A | CA406038861 | ATP1A3 | c.2506A>T (p.Lys836Ter) c.2467A>T (p.Lys823Ter) c.2500A>T (p.Lys834Ter) c.2377A>T (p.Lys793Ter) | |
19 | g.41970260T>C | CA406038863 | ATP1A3 | c.2506A>G (p.Lys836Glu) c.2467A>G (p.Lys823Glu) c.2500A>G (p.Lys834Glu) c.2377A>G (p.Lys793Glu) | |
19 | g.41970260T>G | CA406038865 | ATP1A3 | c.2506A>C (p.Lys836Gln) c.2467A>C (p.Lys823Gln) c.2500A>C (p.Lys834Gln) c.2377A>C (p.Lys793Gln) | |
19 | g.41970261C>A | CA406038866 | ATP1A3 | c.2505G>T (p.Met835Ile) c.2466G>T (p.Met822Ile) c.2499G>T (p.Met833Ile) c.2376G>T (p.Met792Ile) | |
19 | g.41970261C>G | CA406038869 | ATP1A3 | c.2505G>C (p.Met835Ile) c.2466G>C (p.Met822Ile) c.2499G>C (p.Met833Ile) c.2376G>C (p.Met792Ile) | |
19 | g.41970261C>T | CA406038871 | ATP1A3 | c.2505G>A (p.Met835Ile) c.2466G>A (p.Met822Ile) c.2499G>A (p.Met833Ile) c.2376G>A (p.Met792Ile) | COSMIC |
19 | g.41970262A>C | CA406038877 | ATP1A3 | c.2504T>G (p.Met835Arg) c.2465T>G (p.Met822Arg) c.2498T>G (p.Met833Arg) c.2375T>G (p.Met792Arg) | |
19 | g.41970262A>G | CA406038873 | ATP1A3 | c.2504T>C (p.Met835Thr) c.2465T>C (p.Met822Thr) c.2498T>C (p.Met833Thr) c.2375T>C (p.Met792Thr) | |
19 | g.41970262A>T | CA406038875 | ATP1A3 | c.2504T>A (p.Met835Lys) c.2465T>A (p.Met822Lys) c.2498T>A (p.Met833Lys) c.2375T>A (p.Met792Lys) | |
19 | g.41970263T>A | CA406038879 | ATP1A3 | c.2503A>T (p.Met835Leu) c.2464A>T (p.Met822Leu) c.2497A>T (p.Met833Leu) c.2374A>T (p.Met792Leu) | |
19 | g.41970263T>C | CA406038880 | ATP1A3 | c.2503A>G (p.Met835Val) c.2464A>G (p.Met822Val) c.2497A>G (p.Met833Val) c.2374A>G (p.Met792Val) | |
19 | g.41970263T>G | CA406038882 | ATP1A3 | c.2503A>C (p.Met835Leu) c.2464A>C (p.Met822Leu) c.2497A>C (p.Met833Leu) c.2374A>C (p.Met792Leu) | |
19 | g.41970264G>A | CA507694736 | ATP1A3 | c.2502C>T (p.Ile834=) c.2463C>T (p.Ile821=) c.2496C>T (p.Ile832=) c.2373C>T (p.Ile791=) | |
19 | g.41970264G>C | CA406038884 | ATP1A3 | c.2502C>G (p.Ile834Met) c.2463C>G (p.Ile821Met) c.2496C>G (p.Ile832Met) c.2373C>G (p.Ile791Met) | |
19 | g.41970264G>T | CA507694737 | ATP1A3 | c.2502C>A (p.Ile834=) c.2463C>A (p.Ile821=) c.2496C>A (p.Ile832=) c.2373C>A (p.Ile791=) | COSMIC |
19 | g.41970265A>C | CA406038886 | ATP1A3 | c.2501T>G (p.Ile834Ser) c.2462T>G (p.Ile821Ser) c.2495T>G (p.Ile832Ser) c.2372T>G (p.Ile791Ser) | |
19 | g.41970265A>G | CA406038888 | ATP1A3 | c.2501T>C (p.Ile834Thr) c.2462T>C (p.Ile821Thr) c.2495T>C (p.Ile832Thr) c.2372T>C (p.Ile791Thr) | |
19 | g.41970265A>T | CA406038890 | ATP1A3 | c.2501T>A (p.Ile834Asn) c.2462T>A (p.Ile821Asn) c.2495T>A (p.Ile832Asn) c.2372T>A (p.Ile791Asn) | |
19 | g.41970266T>A | CA406038892 | ATP1A3 | c.2500A>T (p.Ile834Phe) c.2461A>T (p.Ile821Phe) c.2494A>T (p.Ile832Phe) c.2371A>T (p.Ile791Phe) | |
19 | g.41970266T>C | CA406038894 | ATP1A3 | c.2500A>G (p.Ile834Val) c.2461A>G (p.Ile821Val) c.2494A>G (p.Ile832Val) c.2371A>G (p.Ile791Val) | |
19 | g.41970266T>G | CA406038896 | ATP1A3 | c.2500A>C (p.Ile834Leu) c.2461A>C (p.Ile821Leu) c.2494A>C (p.Ile832Leu) c.2371A>C (p.Ile791Leu) | ClinVar dbSNP |
19 | g.41970267G>A | CA507694738 | ATP1A3 | c.2499C>T (p.Asp833=) c.2460C>T (p.Asp820=) c.2493C>T (p.Asp831=) c.2370C>T (p.Asp790=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970267G>C | CA406038898 | ATP1A3 | c.2499C>G (p.Asp833Glu) c.2460C>G (p.Asp820Glu) c.2493C>G (p.Asp831Glu) c.2370C>G (p.Asp790Glu) | |
19 | g.41970267G= | CA2336721166 | ATP1A3 | c.2499C= (p.Asp833=) c.2460C= (p.Asp820=) c.2493C= (p.Asp831=) c.2370C= (p.Asp790=) | |
19 | g.41970267G>T | CA406038899 | ATP1A3 | c.2499C>A (p.Asp833Glu) c.2460C>A (p.Asp820Glu) c.2493C>A (p.Asp831Glu) c.2370C>A (p.Asp790Glu) | |
19 | g.41970268T>A | CA406038905 | ATP1A3 | c.2498A>T (p.Asp833Val) c.2459A>T (p.Asp820Val) c.2492A>T (p.Asp831Val) c.2369A>T (p.Asp790Val) | |
19 | g.41970268T>C | CA406038903 | ATP1A3 | c.2498A>G (p.Asp833Gly) c.2459A>G (p.Asp820Gly) c.2492A>G (p.Asp831Gly) c.2369A>G (p.Asp790Gly) | |
19 | g.41970268T>G | CA406038901 | ATP1A3 | c.2498A>C (p.Asp833Ala) c.2459A>C (p.Asp820Ala) c.2492A>C (p.Asp831Ala) c.2369A>C (p.Asp790Ala) | |
19 | g.41970269C>A | CA406038907 | ATP1A3 | c.2497G>T (p.Asp833Tyr) c.2458G>T (p.Asp820Tyr) c.2491G>T (p.Asp831Tyr) c.2368G>T (p.Asp790Tyr) | |
19 | g.41970269C= | CA2336721167 | ATP1A3 | c.2497G= (p.Asp833=) c.2458G= (p.Asp820=) c.2491G= (p.Asp831=) c.2368G= (p.Asp790=) | |
19 | g.41970269C>G | CA406038910 | ATP1A3 | c.2497G>C (p.Asp833His) c.2458G>C (p.Asp820His) c.2491G>C (p.Asp831His) c.2368G>C (p.Asp790His) | |
19 | g.41970269C>T | CA9467376 | ATP1A3 | c.2497G>A (p.Asp833Asn) c.2458G>A (p.Asp820Asn) c.2491G>A (p.Asp831Asn) c.2368G>A (p.Asp790Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970270G>A | CA9467377 | ATP1A3 | c.2496C>T (p.Ser832=) c.2457C>T (p.Ser819=) c.2490C>T (p.Ser830=) c.2367C>T (p.Ser789=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970270G>C | CA406038913 | ATP1A3 | c.2496C>G (p.Ser832Arg) c.2457C>G (p.Ser819Arg) c.2490C>G (p.Ser830Arg) c.2367C>G (p.Ser789Arg) | |
19 | g.41970270G= | CA2336721168 | ATP1A3 | c.2496C= (p.Ser832=) c.2457C= (p.Ser819=) c.2490C= (p.Ser830=) c.2367C= (p.Ser789=) | |
19 | g.41970270G>T | CA406038915 | ATP1A3 | c.2496C>A (p.Ser832Arg) c.2457C>A (p.Ser819Arg) c.2490C>A (p.Ser830Arg) c.2367C>A (p.Ser789Arg) | gnomAD v4 |
19 | g.41970271C>A | CA406038917 | ATP1A3 | c.2495G>T (p.Ser832Ile) c.2456G>T (p.Ser819Ile) c.2489G>T (p.Ser830Ile) c.2366G>T (p.Ser789Ile) | |
19 | g.41970271C= | CA2336721169 | ATP1A3 | c.2495G= (p.Ser832=) c.2456G= (p.Ser819=) c.2489G= (p.Ser830=) c.2366G= (p.Ser789=) | |
19 | g.41970271C>G | CA406038919 | ATP1A3 | c.2495G>C (p.Ser832Thr) c.2456G>C (p.Ser819Thr) c.2489G>C (p.Ser830Thr) c.2366G>C (p.Ser789Thr) | |
19 | g.41970271C>T | CA406038921 | ATP1A3 | c.2495G>A (p.Ser832Asn) c.2456G>A (p.Ser819Asn) c.2489G>A (p.Ser830Asn) c.2366G>A (p.Ser789Asn) | ClinVar dbSNP |
19 | g.41970272T>A | CA406038923 | ATP1A3 | c.2494A>T (p.Ser832Cys) c.2455A>T (p.Ser819Cys) c.2488A>T (p.Ser830Cys) c.2365A>T (p.Ser789Cys) | |
19 | g.41970272T>C | CA406038925 | ATP1A3 | c.2494A>G (p.Ser832Gly) c.2455A>G (p.Ser819Gly) c.2488A>G (p.Ser830Gly) c.2365A>G (p.Ser789Gly) | |
19 | g.41970272T>G | CA406038927 | ATP1A3 | c.2494A>C (p.Ser832Arg) c.2455A>C (p.Ser819Arg) c.2488A>C (p.Ser830Arg) c.2365A>C (p.Ser789Arg) | |
19 | g.41970273T>A | CA406038929 | ATP1A3 | c.2493A>T (p.Glu831Asp) c.2454A>T (p.Glu818Asp) c.2487A>T (p.Glu829Asp) c.2364A>T (p.Glu788Asp) | |
19 | g.41970273T>C | CA507694741 | ATP1A3 | c.2493A>G (p.Glu831=) c.2454A>G (p.Glu818=) c.2487A>G (p.Glu829=) c.2364A>G (p.Glu788=) | |
19 | g.41970273T>G | CA406038931 | ATP1A3 | c.2493A>C (p.Glu831Asp) c.2454A>C (p.Glu818Asp) c.2487A>C (p.Glu829Asp) c.2364A>C (p.Glu788Asp) | |
19 | g.41970274T>A | CA406038937 | ATP1A3 | c.2492A>T (p.Glu831Val) c.2453A>T (p.Glu818Val) c.2486A>T (p.Glu829Val) c.2363A>T (p.Glu788Val) | |
19 | g.41970274T>C | CA406038936 | ATP1A3 | c.2492A>G (p.Glu831Gly) c.2453A>G (p.Glu818Gly) c.2486A>G (p.Glu829Gly) c.2363A>G (p.Glu788Gly) | |
19 | g.41970274T>G | CA406038934 | ATP1A3 | c.2492A>C (p.Glu831Ala) c.2453A>C (p.Glu818Ala) c.2486A>C (p.Glu829Ala) c.2363A>C (p.Glu788Ala) | |
19 | g.41970275C>A | CA406038939 | ATP1A3 | c.2491G>T (p.Glu831Ter) c.2452G>T (p.Glu818Ter) c.2485G>T (p.Glu829Ter) c.2362G>T (p.Glu788Ter) | |
19 | g.41970275C= | CA2336720775 | ATP1A3 | c.2491G= (p.Glu831=) c.2452G= (p.Glu818=) c.2485G= (p.Glu829=) c.2362G= (p.Glu788=) | |
19 | g.41970275C>G | CA406038940 | ATP1A3 | c.2491G>C (p.Glu831Gln) c.2452G>C (p.Glu818Gln) c.2485G>C (p.Glu829Gln) c.2362G>C (p.Glu788Gln) | |
19 | g.41970275C>T | CA204733 | ATP1A3 | c.2491G>A (p.Glu831Lys) c.2452G>A (p.Glu818Lys) c.2485G>A (p.Glu829Lys) c.2362G>A (p.Glu788Lys) | ClinVar dbSNP COSMIC |
19 | g.41970276G>A | CA9467378 | ATP1A3 | c.2490C>T (p.Ala830=) c.2451C>T (p.Ala817=) c.2484C>T (p.Ala828=) c.2361C>T (p.Ala787=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970276G>C | CA507694743 | ATP1A3 | c.2490C>G (p.Ala830=) c.2451C>G (p.Ala817=) c.2484C>G (p.Ala828=) c.2361C>G (p.Ala787=) | gnomAD v4 |
19 | g.41970276G= | CA2336720776 | ATP1A3 | c.2490C= (p.Ala830=) c.2451C= (p.Ala817=) c.2484C= (p.Ala828=) c.2361C= (p.Ala787=) | |
19 | g.41970276G>T | CA507694744 | ATP1A3 | c.2490C>A (p.Ala830=) c.2451C>A (p.Ala817=) c.2484C>A (p.Ala828=) c.2361C>A (p.Ala787=) | |
19 | g.41970277G>A | CA406038945 | ATP1A3 | c.2489C>T (p.Ala830Val) c.2450C>T (p.Ala817Val) c.2483C>T (p.Ala828Val) c.2360C>T (p.Ala787Val) | |
19 | g.41970277G>C | CA406038947 | ATP1A3 | c.2489C>G (p.Ala830Gly) c.2450C>G (p.Ala817Gly) c.2483C>G (p.Ala828Gly) c.2360C>G (p.Ala787Gly) | |
19 | g.41970277G>T | CA406038949 | ATP1A3 | c.2489C>A (p.Ala830Asp) c.2450C>A (p.Ala817Asp) c.2483C>A (p.Ala828Asp) c.2360C>A (p.Ala787Asp) | |
19 | g.41970278C>A | CA406038951 | ATP1A3 | c.2488G>T (p.Ala830Ser) c.2449G>T (p.Ala817Ser) c.2482G>T (p.Ala828Ser) c.2359G>T (p.Ala787Ser) | |
19 | g.41970278C= | CA2336720777 | ATP1A3 | c.2488G= (p.Ala830=) c.2449G= (p.Ala817=) c.2482G= (p.Ala828=) c.2359G= (p.Ala787=) | |
19 | g.41970278C>G | CA406038953 | ATP1A3 | c.2488G>C (p.Ala830Pro) c.2449G>C (p.Ala817Pro) c.2482G>C (p.Ala828Pro) c.2359G>C (p.Ala787Pro) | |
19 | g.41970278C>T | CA9467379 | ATP1A3 | c.2488G>A (p.Ala830Thr) c.2449G>A (p.Ala817Thr) c.2482G>A (p.Ala828Thr) c.2359G>A (p.Ala787Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |