Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28887244C>A | CA494501423 | ATP2A1 | c.600C>A (p.Val200=) c.225C>A (p.Val75=) | COSMIC |
16 | g.28887244C>G | CA494501416 | ATP2A1 | c.600C>G (p.Val200=) c.225C>G (p.Val75=) | |
16 | g.28887244C>T | CA494501420 | ATP2A1 | c.600C>T (p.Val200=) c.225C>T (p.Val75=) | |
16 | g.28887245A= | CA2215887004 | ATP2A1 | c.601A= (p.Asn201=) c.226A= (p.Asn76=) | |
16 | g.28887245A>C | CA395402622 | ATP2A1 | c.601A>C (p.Asn201His) c.226A>C (p.Asn76His) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28887245A>G | CA395402625 | ATP2A1 | c.601A>G (p.Asn201Asp) c.226A>G (p.Asn76Asp) | |
16 | g.28887245A>T | CA395402627 | ATP2A1 | c.601A>T (p.Asn201Tyr) c.226A>T (p.Asn76Tyr) | |
16 | g.28887246A>C | CA395402629 | ATP2A1 | c.602A>C (p.Asn201Thr) c.227A>C (p.Asn76Thr) | |
16 | g.28887246A>G | CA395402632 | ATP2A1 | c.602A>G (p.Asn201Ser) c.227A>G (p.Asn76Ser) | |
16 | g.28887246A>T | CA395402635 | ATP2A1 | c.602A>T (p.Asn201Ile) c.227A>T (p.Asn76Ile) | |
16 | g.28887247C>A | CA395402638 | ATP2A1 | c.603C>A (p.Asn201Lys) c.228C>A (p.Asn76Lys) | |
16 | g.28887247C= | CA2215887007 | ATP2A1 | c.603C= (p.Asn201=) c.228C= (p.Asn76=) | |
16 | g.28887247C>G | CA395402641 | ATP2A1 | c.603C>G (p.Asn201Lys) c.228C>G (p.Asn76Lys) | |
16 | g.28887247C>T | CA7986707 | ATP2A1 | c.603C>T (p.Asn201=) c.228C>T (p.Asn76=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28887248C>A | CA395402646 | ATP2A1 | c.604C>A (p.Gln202Lys) c.229C>A (p.Gln77Lys) | |
16 | g.28887248C>G | CA395402649 | ATP2A1 | c.604C>G (p.Gln202Glu) c.229C>G (p.Gln77Glu) | |
16 | g.28887248C>T | CA395402643 | ATP2A1 | c.604C>T (p.Gln202Ter) c.229C>T (p.Gln77Ter) | gnomAD v4 |
16 | g.28887249A>C | CA395402652 | ATP2A1 | c.605A>C (p.Gln202Pro) c.230A>C (p.Gln77Pro) | |
16 | g.28887249A>G | CA395402654 | ATP2A1 | c.605A>G (p.Gln202Arg) c.230A>G (p.Gln77Arg) | |
16 | g.28887249A>T | CA395402657 | ATP2A1 | c.605A>T (p.Gln202Leu) c.230A>T (p.Gln77Leu) | |
16 | g.28887250G>A | CA494501475 | ATP2A1 | c.606G>A (p.Gln202=) c.231G>A (p.Gln77=) | |
16 | g.28887250G>C | CA395402660 | ATP2A1 | c.606G>C (p.Gln202His) c.231G>C (p.Gln77His) | |
16 | g.28887250G>T | CA395402663 | ATP2A1 | c.606G>T (p.Gln202His) c.231G>T (p.Gln77His) | |
16 | g.28887251G>A | CA395402672 | ATP2A1 | c.607G>A (p.Asp203Asn) c.232G>A (p.Asp78Asn) | |
16 | g.28887251G>C | CA395402666 | ATP2A1 | c.607G>C (p.Asp203His) c.232G>C (p.Asp78His) | gnomAD v4 |
16 | g.28887251G>T | CA395402667 | ATP2A1 | c.607G>T (p.Asp203Tyr) c.232G>T (p.Asp78Tyr) | |
16 | g.28887252A>C | CA395402674 | ATP2A1 | c.608A>C (p.Asp203Ala) c.233A>C (p.Asp78Ala) | |
16 | g.28887252A>G | CA395402681 | ATP2A1 | c.608A>G (p.Asp203Gly) c.233A>G (p.Asp78Gly) | |
16 | g.28887252A>T | CA395402683 | ATP2A1 | c.608A>T (p.Asp203Val) c.233A>T (p.Asp78Val) | |
16 | g.28887253C>A | CA395402686 | ATP2A1 | c.609C>A (p.Asp203Glu) c.234C>A (p.Asp78Glu) | |
16 | g.28887253C>G | CA395402688 | ATP2A1 | c.609C>G (p.Asp203Glu) c.234C>G (p.Asp78Glu) | |
16 | g.28887253C>T | CA494501543 | ATP2A1 | c.609C>T (p.Asp203=) c.234C>T (p.Asp78=) | |
16 | g.28887253_28887256delinsCAAG | CA2215887012 | ATP2A1 | c.609_612delinsCAAG (p.Asp203=) c.234_237delinsCAAG (p.Asp78=) | |
16 | g.28887254A>C | CA395402697 | ATP2A1 | c.610A>C (p.Lys204Gln) c.235A>C (p.Lys79Gln) | |
16 | g.28887254A>G | CA395402699 | ATP2A1 | c.610A>G (p.Lys204Glu) c.235A>G (p.Lys79Glu) | |
16 | g.28887254A>T | CA395402694 | ATP2A1 | c.610A>T (p.Lys204Ter) c.235A>T (p.Lys79Ter) | ClinVar |
16 | g.28887259_28887261del | CA7986708 | ATP2A1 | c.615_617del (p.Lys205del) c.240_242del (p.Lys80del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28887255A>C | CA395402703 | ATP2A1 | c.611A>C (p.Lys204Thr) c.236A>C (p.Lys79Thr) | |
16 | g.28887255A>G | CA395402702 | ATP2A1 | c.611A>G (p.Lys204Arg) c.236A>G (p.Lys79Arg) | |
16 | g.28887255A>T | CA395402705 | ATP2A1 | c.611A>T (p.Lys204Met) c.236A>T (p.Lys79Met) | COSMIC |
16 | g.28887256G>A | CA494501565 | ATP2A1 | c.612G>A (p.Lys204=) c.237G>A (p.Lys79=) | |
16 | g.28887256G>C | CA395402709 | ATP2A1 | c.612G>C (p.Lys204Asn) c.237G>C (p.Lys79Asn) | |
16 | g.28887256G>T | CA395402712 | ATP2A1 | c.612G>T (p.Lys204Asn) c.237G>T (p.Lys79Asn) | |
16 | g.28887257A>C | CA395402715 | ATP2A1 | c.613A>C (p.Lys205Gln) c.238A>C (p.Lys80Gln) | |
16 | g.28887257A>G | CA395402720 | ATP2A1 | c.613A>G (p.Lys205Glu) c.238A>G (p.Lys80Glu) | |
16 | g.28887257A>T | CA395402723 | ATP2A1 | c.613A>T (p.Lys205Ter) c.238A>T (p.Lys80Ter) | |
16 | g.28887258A>C | CA395402727 | ATP2A1 | c.614A>C (p.Lys205Thr) c.239A>C (p.Lys80Thr) | |
16 | g.28887258A>G | CA395402729 | ATP2A1 | c.614A>G (p.Lys205Arg) c.239A>G (p.Lys80Arg) | |
16 | g.28887258A>T | CA395402734 | ATP2A1 | c.614A>T (p.Lys205Met) c.239A>T (p.Lys80Met) | |
16 | g.28887259G>A | CA494501596 | ATP2A1 | c.615G>A (p.Lys205=) c.240G>A (p.Lys80=) | dbSNP gnomAD v4 |
16 | g.28887259G>C | CA395402736 | ATP2A1 | c.615G>C (p.Lys205Asn) c.240G>C (p.Lys80Asn) | |
16 | g.28887259G= | CA2215887018 | ATP2A1 | c.615G= (p.Lys205=) c.240G= (p.Lys80=) | |
16 | g.28887259G>T | CA395402739 | ATP2A1 | c.615G>T (p.Lys205Asn) c.240G>T (p.Lys80Asn) | |
16 | g.28887260A>C | CA395402742 | ATP2A1 | c.616A>C (p.Asn206His) c.241A>C (p.Asn81His) | |
16 | g.28887260A>G | CA395402746 | ATP2A1 | c.616A>G (p.Asn206Asp) c.241A>G (p.Asn81Asp) | gnomAD v4 |
16 | g.28887260A>T | CA395402748 | ATP2A1 | c.616A>T (p.Asn206Tyr) c.241A>T (p.Asn81Tyr) | |
16 | g.28887261A>C | CA395402751 | ATP2A1 | c.617A>C (p.Asn206Thr) c.242A>C (p.Asn81Thr) | |
16 | g.28887261A>G | CA395402753 | ATP2A1 | c.617A>G (p.Asn206Ser) c.242A>G (p.Asn81Ser) | gnomAD v4 |
16 | g.28887261A>T | CA395402756 | ATP2A1 | c.617A>T (p.Asn206Ile) c.242A>T (p.Asn81Ile) | |
16 | g.28887262C>A | CA395402757 | ATP2A1 | c.618C>A (p.Asn206Lys) c.243C>A (p.Asn81Lys) | |
16 | g.28887262C= | CA2215887022 | ATP2A1 | c.618C= (p.Asn206=) c.243C= (p.Asn81=) | |
16 | g.28887262C>G | CA395402759 | ATP2A1 | c.618C>G (p.Asn206Lys) c.243C>G (p.Asn81Lys) | |
16 | g.28887262C>T | CA279232005 | ATP2A1 | c.618C>T (p.Asn206=) c.243C>T (p.Asn81=) | dbSNP |
16 | g.28887263A= | CA2215887027 | ATP2A1 | c.619A= (p.Met207=) c.244A= (p.Met82=) | |
16 | g.28887263A>C | CA395402762 | ATP2A1 | c.619A>C (p.Met207Leu) c.244A>C (p.Met82Leu) | |
16 | g.28887263A>G | CA395402766 | ATP2A1 | c.619A>G (p.Met207Val) c.244A>G (p.Met82Val) | gnomAD v4 |
16 | g.28887263A>T | CA395402769 | ATP2A1 | c.619A>T (p.Met207Leu) c.244A>T (p.Met82Leu) | dbSNP |
16 | g.28887264T>A | CA395402772 | ATP2A1 | c.620T>A (p.Met207Lys) c.245T>A (p.Met82Lys) | |
16 | g.28887264T>C | CA395402775 | ATP2A1 | c.620T>C (p.Met207Thr) c.245T>C (p.Met82Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28887264T>G | CA395402785 | ATP2A1 | c.620T>G (p.Met207Arg) c.245T>G (p.Met82Arg) | |
16 | g.28887264T= | CA2215887031 | ATP2A1 | c.620T= (p.Met207=) c.245T= (p.Met82=) | |
16 | g.28887265G>A | CA395402788 | ATP2A1 | c.621G>A (p.Met207Ile) c.246G>A (p.Met82Ile) | |
16 | g.28887265G>C | CA395402792 | ATP2A1 | c.621G>C (p.Met207Ile) c.246G>C (p.Met82Ile) | |
16 | g.28887265G>T | CA395402795 | ATP2A1 | c.621G>T (p.Met207Ile) c.246G>T (p.Met82Ile) | |
16 | g.28887266C>A | CA395402800 | ATP2A1 | c.622C>A (p.Leu208Ile) c.247C>A (p.Leu83Ile) | |
16 | g.28887266C>G | CA395402802 | ATP2A1 | c.622C>G (p.Leu208Val) c.247C>G (p.Leu83Val) | |
16 | g.28887266C>T | CA395402804 | ATP2A1 | c.622C>T (p.Leu208Phe) c.247C>T (p.Leu83Phe) | |
16 | g.28887267T>A | CA395402811 | ATP2A1 | c.623T>A (p.Leu208His) c.248T>A (p.Leu83His) | |
16 | g.28887267T>C | CA395402808 | ATP2A1 | c.623T>C (p.Leu208Pro) c.248T>C (p.Leu83Pro) | dbSNP gnomAD v4 |
16 | g.28887267T>G | CA395402806 | ATP2A1 | c.623T>G (p.Leu208Arg) c.248T>G (p.Leu83Arg) | |
16 | g.28887267T= | CA2215887034 | ATP2A1 | c.623T= (p.Leu208=) c.248T= (p.Leu83=) | |
16 | g.28887268T>A | CA494501754 | ATP2A1 | c.624T>A (p.Leu208=) c.249T>A (p.Leu83=) | |
16 | g.28887268T>C | CA494501751 | ATP2A1 | c.624T>C (p.Leu208=) c.249T>C (p.Leu83=) | |
16 | g.28887268T>G | CA494501748 | ATP2A1 | c.624T>G (p.Leu208=) c.249T>G (p.Leu83=) | dbSNP gnomAD v2 |
16 | g.28887268T= | CA2215887038 | ATP2A1 | c.624T= (p.Leu208=) c.249T= (p.Leu83=) | |
16 | g.28887269T>A | CA395402812 | ATP2A1 | c.625T>A (p.Phe209Ile) c.250T>A (p.Phe84Ile) | |
16 | g.28887269T>C | CA395402814 | ATP2A1 | c.625T>C (p.Phe209Leu) c.250T>C (p.Phe84Leu) | |
16 | g.28887269T>G | CA395402816 | ATP2A1 | c.625T>G (p.Phe209Val) c.250T>G (p.Phe84Val) | |
16 | g.28887270T>A | CA395402818 | ATP2A1 | c.626T>A (p.Phe209Tyr) c.251T>A (p.Phe84Tyr) | |
16 | g.28887270T>C | CA395402820 | ATP2A1 | c.626T>C (p.Phe209Ser) c.251T>C (p.Phe84Ser) | |
16 | g.28887270T>G | CA395402822 | ATP2A1 | c.626T>G (p.Phe209Cys) c.251T>G (p.Phe84Cys) | |
16 | g.28887271C>A | CA395402824 | ATP2A1 | c.627C>A (p.Phe209Leu) c.252C>A (p.Phe84Leu) | |
16 | g.28887271C>G | CA395402826 | ATP2A1 | c.627C>G (p.Phe209Leu) c.252C>G (p.Phe84Leu) | |
16 | g.28887271C>T | CA494501777 | ATP2A1 | c.627C>T (p.Phe209=) c.252C>T (p.Phe84=) | gnomAD v4 COSMIC |
16 | g.28887272T>A | CA395402828 | ATP2A1 | c.628T>A (p.Ser210Thr) c.253T>A (p.Ser85Thr) | |
16 | g.28887272T>C | CA395402829 | ATP2A1 | c.628T>C (p.Ser210Pro) c.253T>C (p.Ser85Pro) | |
16 | g.28887272T>G | CA395402830 | ATP2A1 | c.628T>G (p.Ser210Ala) c.253T>G (p.Ser85Ala) | |
16 | g.28887273C>A | CA395402832 | ATP2A1 | c.629C>A (p.Ser210Ter) c.254C>A (p.Ser85Ter) | |
16 | g.28887273C= | CA2215887044 | ATP2A1 | c.629C= (p.Ser210=) c.254C= (p.Ser85=) | |
16 | g.28887273C>G | CA395402834 | ATP2A1 | c.629C>G (p.Ser210Trp) c.254C>G (p.Ser85Trp) | |
16 | g.28887273C>T | CA279232009 | ATP2A1 | c.629C>T (p.Ser210Leu) c.254C>T (p.Ser85Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.28887274G>A | CA7986709 | ATP2A1 | c.630G>A (p.Ser210=) c.255G>A (p.Ser85=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28887274G>C | CA494501800 | ATP2A1 | c.630G>C (p.Ser210=) c.255G>C (p.Ser85=) | |
16 | g.28887274G= | CA2215887049 | ATP2A1 | c.630G= (p.Ser210=) c.255G= (p.Ser85=) | |
16 | g.28887274G>T | CA494501798 | ATP2A1 | c.630G>T (p.Ser210=) c.255G>T (p.Ser85=) | |
16 | g.28887275G>A | CA395402843 | ATP2A1 | c.630+1G>A (n.630+1G>A) c.255+1G>A (n.255+1G>A) | |
16 | g.28887275G>C | CA395402845 | ATP2A1 | c.630+1G>C (n.630+1G>C) c.255+1G>C (n.255+1G>C) | |
16 | g.28887275G>T | CA395402849 | ATP2A1 | c.630+1G>T (n.630+1G>T) c.255+1G>T (n.255+1G>T) | |
16 | g.28887276T>A | CA395402852 | ATP2A1 | c.630+2T>A (n.630+2T>A) c.255+2T>A (n.255+2T>A) | |
16 | g.28887276T>C | CA395402853 | ATP2A1 | c.630+2T>C (n.630+2T>C) c.255+2T>C (n.255+2T>C) | |
16 | g.28887276T>G | CA395402854 | ATP2A1 | c.630+2T>G (n.630+2T>G) c.255+2T>G (n.255+2T>G) | |
16 | g.28887277G>A | CA2575960400 | ATP2A1 | c.630+3G>A (n.630+3G>A) c.255+3G>A (n.255+3G>A) | |
16 | g.28887280C= | CA2215887052 | ATP2A1 | c.630+6C= (n.630+6C=) c.255+6C= (n.255+6C=) | |
16 | g.28887280C>T | CA621787496 | ATP2A1 | c.630+6C>T (n.630+6C>T) c.255+6C>T (n.255+6C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28887281A= | CA2215887055 | ATP2A1 | c.630+7A= (n.630+7A=) c.255+7A= (n.255+7A=) | |
16 | g.28887281A>C | CA2575960401 | ATP2A1 | c.630+7A>C (n.630+7A>C) c.255+7A>C (n.255+7A>C) | gnomAD v4 |
16 | g.28887281A>G | CA7986710 | ATP2A1 | c.630+7A>G (n.630+7A>G) c.255+7A>G (n.255+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28887282A= | CA2215887059 | ATP2A1 | c.630+8A= (n.630+8A=) c.255+8A= (n.255+8A=) | |
16 | g.28887282A>C | CA2215887060 | ATP2A1 | c.630+8A>C (n.630+8A>C) c.255+8A>C (n.255+8A>C) | dbSNP gnomAD v4 |
16 | g.28887282A>G | CA621787497 | ATP2A1 | c.630+8A>G (n.630+8A>G) c.255+8A>G (n.255+8A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28887283T>A | CA2575960402 | ATP2A1 | c.630+9T>A (n.630+9T>A) c.255+9T>A (n.255+9T>A) | |
16 | g.28887284C>T | CA2632535910 | ATP2A1 | c.630+10C>T (n.630+10C>T) c.255+10C>T (n.255+10C>T) | gnomAD v4 |
16 | g.28887285C= | CA2215887062 | ATP2A1 | c.630+11C= (n.630+11C=) c.255+11C= (n.255+11C=) | |
16 | g.28887285C>T | CA7986711 | ATP2A1 | c.630+11C>T (n.630+11C>T) c.255+11C>T (n.255+11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28887286G>A | CA7986712 | ATP2A1 | c.630+12G>A (n.630+12G>A) c.255+12G>A (n.255+12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28887286G>C | CA2632535918 | ATP2A1 | c.630+12G>C (n.630+12G>C) c.255+12G>C (n.255+12G>C) | gnomAD v4 |
16 | g.28887286G= | CA2215887065 | ATP2A1 | c.630+12G= (n.630+12G=) c.255+12G= (n.255+12G=) | |
16 | g.28887288G>A | CA2632535921 | ATP2A1 | c.630+14G>A (n.630+14G>A) c.255+14G>A (n.255+14G>A) | gnomAD v4 |
16 | g.28887289A= | CA2215887068 | ATP2A1 | c.630+15A= (n.630+15A=) c.255+15A= (n.255+15A=) | |
16 | g.28887289A>C | CA7986713 | ATP2A1 | c.630+15A>C (n.630+15A>C) c.255+15A>C (n.255+15A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28887289A>G | CA279232020 | ATP2A1 | c.630+15A>G (n.630+15A>G) c.255+15A>G (n.255+15A>G) | dbSNP gnomAD v4 |
16 | g.28887290C= | CA2215887071 | ATP2A1 | c.630+16C= (n.630+16C=) c.255+16C= (n.255+16C=) | |
16 | g.28887290C>G | CA7986714 | ATP2A1 | c.630+16C>G (n.630+16C>G) c.255+16C>G (n.255+16C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28887292A= | CA2215887073 | ATP2A1 | c.630+18A= (n.630+18A=) c.255+18A= (n.255+18A=) | |
16 | g.28887292A>G | CA2215887074 | ATP2A1 | c.630+18A>G (n.630+18A>G) c.255+18A>G (n.255+18A>G) | dbSNP |
16 | g.28887294C>G | CA2740093299 | ATP2A1 | c.630+20C>G (n.630+20C>G) c.255+20C>G (n.255+20C>G) | ClinVar |
16 | g.28887295C= | CA2215887077 | ATP2A1 | c.630+21C= (n.630+21C=) c.255+21C= (n.255+21C=) | |
16 | g.28887295C>G | CA7986715 | ATP2A1 | c.630+21C>G (n.630+21C>G) c.255+21C>G (n.255+21C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28887296A= | CA2215887081 | ATP2A1 | c.630+22A= (n.630+22A=) c.255+22A= (n.255+22A=) | |
16 | g.28887296A>G | CA7986716 | ATP2A1 | c.630+22A>G (n.630+22A>G) c.255+22A>G (n.255+22A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28887298C= | CA2215887085 | ATP2A1 | c.630+24C= (n.630+24C=) c.255+24C= (n.255+24C=) | |
16 | g.28887298C>T | CA279232029 | ATP2A1 | c.630+24C>T (n.630+24C>T) c.255+24C>T (n.255+24C>T) | dbSNP gnomAD v4 |
16 | g.28887300C= | CA2215887088 | ATP2A1 | c.630+26C= (n.630+26C=) c.255+26C= (n.255+26C=) | |
16 | g.28887300C>T | CA7986717 | ATP2A1 | c.630+26C>T (n.630+26C>T) c.255+26C>T (n.255+26C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28887301del | CA2632535935 | ATP2A1 | c.630+27del (n.630+27del) c.255+27del (n.255+27del) | gnomAD v4 |
16 | g.28887303A= | CA2215887092 | ATP2A1 | c.630+29A= (n.630+29A=) c.255+29A= (n.255+29A=) | |
16 | g.28887303A>C | CA7986718 | ATP2A1 | c.630+29A>C (n.630+29A>C) c.255+29A>C (n.255+29A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28887303A>T | CA2593659704 | ATP2A1 | c.630+29A>T (n.630+29A>T) c.255+29A>T (n.255+29A>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28887304C= | CA2215887093 | ATP2A1 | c.630+30C= (n.630+30C=) c.255+30C= (n.255+30C=) | |
16 | g.28887304C>G | CA7986719 | ATP2A1 | c.630+30C>G (n.630+30C>G) c.255+30C>G (n.255+30C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28887305T>A | CA7986720 | ATP2A1 | c.630+31T>A (n.630+31T>A) c.255+31T>A (n.255+31T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28887305T= | CA2215887096 | ATP2A1 | c.630+31T= (n.630+31T=) c.255+31T= (n.255+31T=) | |
16 | g.28887306C>G | CA2632535948 | ATP2A1 | c.630+32C>G (n.630+32C>G) c.255+32C>G (n.255+32C>G) | gnomAD v4 |
16 | g.28887307A>C | CA2575960404 | ATP2A1 | c.630+33A>C (n.630+33A>C) c.255+33A>C (n.255+33A>C) | gnomAD v4 |
16 | g.28887307A>G | CA2632535950 | ATP2A1 | c.630+33A>G (n.630+33A>G) c.255+33A>G (n.255+33A>G) | gnomAD v4 |
16 | g.28887309T>C | CA622162430 | ATP2A1 | c.630+35T>C (n.630+35T>C) c.255+35T>C (n.255+35T>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28887309T= | CA2215887102 | ATP2A1 | c.630+35T= (n.630+35T=) c.255+35T= (n.255+35T=) | |
16 | g.28887310C>A | CA2575960405 | ATP2A1 | c.630+36C>A (n.630+36C>A) c.255+36C>A (n.255+36C>A) | |
16 | g.28887310C>G | CA2632535956 | ATP2A1 | c.630+36C>G (n.630+36C>G) c.255+36C>G (n.255+36C>G) | gnomAD v4 |
16 | g.28887312A>G | CA2632535958 | ATP2A1 | c.630+38A>G (n.630+38A>G) c.255+38A>G (n.255+38A>G) | gnomAD v4 |
16 | g.28887313G>A | CA2632535959 | ATP2A1 | c.630+39G>A (n.630+39G>A) c.255+39G>A (n.255+39G>A) | gnomAD v4 |
16 | g.28887314C= | CA2215887104 | ATP2A1 | c.630+40C= (n.630+40C=) c.255+40C= (n.255+40C=) | |
16 | g.28887314C>G | CA7986721 | ATP2A1 | c.630+40C>G (n.630+40C>G) c.255+40C>G (n.255+40C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28887314C>T | CA2632535963 | ATP2A1 | c.630+40C>T (n.630+40C>T) c.255+40C>T (n.255+40C>T) | gnomAD v4 |
16 | g.28887315C= | CA2215887107 | ATP2A1 | c.630+41C= (n.630+41C=) c.255+41C= (n.255+41C=) | |
16 | g.28887315C>T | CA7986722 | ATP2A1 | c.630+41C>T (n.630+41C>T) c.255+41C>T (n.255+41C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28887316A= | CA2215887109 | ATP2A1 | c.630+42A= (n.630+42A=) c.255+42A= (n.255+42A=) | |
16 | g.28887316A>G | CA622162431 | ATP2A1 | c.630+42A>G (n.630+42A>G) c.255+42A>G (n.255+42A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28887318G>A | CA7986723 | ATP2A1 | c.630+44G>A (n.630+44G>A) c.255+44G>A (n.255+44G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28887318G>C | CA2215887110 | ATP2A1 | c.630+44G>C (n.630+44G>C) c.255+44G>C (n.255+44G>C) | dbSNP |
16 | g.28887318G= | CA2215887113 | ATP2A1 | c.630+44G= (n.630+44G=) c.255+44G= (n.255+44G=) | |
16 | g.28887319T>A | CA2632535968 | ATP2A1 | c.630+45T>A (n.630+45T>A) c.255+45T>A (n.255+45T>A) | gnomAD v4 |
16 | g.28887320G>A | CA2632535969 | ATP2A1 | c.630+46G>A (n.630+46G>A) c.255+46G>A (n.255+46G>A) | gnomAD v4 |
16 | g.28887320G>T | CA2632535970 | ATP2A1 | c.630+46G>T (n.630+46G>T) c.255+46G>T (n.255+46G>T) | gnomAD v4 |
16 | g.28887323C= | CA2215887118 | ATP2A1 | c.630+49C= (n.630+49C=) c.255+49C= (n.255+49C=) | |
16 | g.28887323C>T | CA7986724 | ATP2A1 | c.630+49C>T (n.630+49C>T) c.255+49C>T (n.255+49C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28887324G>A | CA7986725 | ATP2A1 | c.630+50G>A (n.630+50G>A) c.255+50G>A (n.255+50G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28887324G= | CA2215887119 | ATP2A1 | c.630+50G= (n.630+50G=) c.255+50G= (n.255+50G=) | |
16 | g.28887325G>A | CA7986726 | ATP2A1 | c.630+51G>A (n.630+51G>A) c.255+51G>A (n.255+51G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28887325G>C | CA622162432 | ATP2A1 | c.630+51G>C (n.630+51G>C) c.255+51G>C (n.255+51G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28887325G= | CA2215887122 | ATP2A1 | c.630+51G= (n.630+51G=) c.255+51G= (n.255+51G=) | |
16 | g.28887325G>T | CA2632535981 | ATP2A1 | c.630+51G>T (n.630+51G>T) c.255+51G>T (n.255+51G>T) | gnomAD v4 |
16 | g.28887326G>A | CA7986727 | ATP2A1 | c.630+52G>A (n.630+52G>A) c.255+52G>A (n.255+52G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28887326G= | CA2215887126 | ATP2A1 | c.630+52G= (n.630+52G=) c.255+52G= (n.255+52G=) | |
16 | g.28887327T>A | CA279232051 | ATP2A1 | c.630+53T>A (n.630+53T>A) c.255+53T>A (n.255+53T>A) | dbSNP |
16 | g.28887327T>C | CA279232054 | ATP2A1 | c.630+53T>C (n.630+53T>C) c.255+53T>C (n.255+53T>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28887327T>G | CA2632535988 | ATP2A1 | c.630+53T>G (n.630+53T>G) c.255+53T>G (n.255+53T>G) | gnomAD v4 |
16 | g.28887327T= | CA2215887128 | ATP2A1 | c.630+53T= (n.630+53T=) c.255+53T= (n.255+53T=) | |
16 | g.28887328T>C | CA279232064 | ATP2A1 | c.630+54T>C (n.630+54T>C) c.255+54T>C (n.255+54T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28887328T>G | CA2215887134 | ATP2A1 | c.630+54T>G (n.630+54T>G) c.255+54T>G (n.255+54T>G) | dbSNP |
16 | g.28887328T= | CA2215887133 | ATP2A1 | c.630+54T= (n.630+54T=) c.255+54T= (n.255+54T=) | |
16 | g.28887329G>A | CA2632535991 | ATP2A1 | c.630+55G>A (n.630+55G>A) c.255+55G>A (n.255+55G>A) | gnomAD v4 |
16 | g.28887330G>C | CA279232068 | ATP2A1 | c.630+56G>C (n.630+56G>C) c.255+56G>C (n.255+56G>C) | dbSNP |
16 | g.28887330G= | CA2215887136 | ATP2A1 | c.630+56G= (n.630+56G=) c.255+56G= (n.255+56G=) | |
16 | g.28887332G>A | CA2575960406 | ATP2A1 | c.630+58G>A (n.630+58G>A) c.255+58G>A (n.255+58G>A) | gnomAD v4 |
16 | g.28887332G>C | CA2632535993 | ATP2A1 | c.630+58G>C (n.630+58G>C) c.255+58G>C (n.255+58G>C) | gnomAD v4 |
16 | g.28887334G>A | CA976136369 | ATP2A1 | c.630+60G>A (n.630+60G>A) c.255+60G>A (n.255+60G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28887334G= | CA2215887139 | ATP2A1 | c.630+60G= (n.630+60G=) c.255+60G= (n.255+60G=) | |
16 | g.28887337dup | CA2215887142 | ATP2A1 | c.630+63dup (n.630+63dup) c.255+63dup (n.255+63dup) | dbSNP gnomAD v4 |
16 | g.28887336A>C | CA2632535995 | ATP2A1 | c.630+62A>C (n.630+62A>C) c.255+62A>C (n.255+62A>C) | gnomAD v4 |
16 | g.28887337A>C | CA2632535997 | ATP2A1 | c.630+63A>C (n.630+63A>C) c.255+63A>C (n.255+63A>C) | gnomAD v4 |
16 | g.28887338C>A | CA2575960407 | ATP2A1 | c.630+64C>A (n.630+64C>A) c.255+64C>A (n.255+64C>A) | |
16 | g.28887339A>T | CA2632535998 | ATP2A1 | c.630+65A>T (n.630+65A>T) c.255+65A>T (n.255+65A>T) | gnomAD v4 |
16 | g.28887340T>A | CA656259174 | ATP2A1 | c.630+66T>A (n.630+66T>A) c.255+66T>A (n.255+66T>A) | COSMIC |
16 | g.28887341G>A | CA2575960408 | ATP2A1 | c.630+67G>A (n.630+67G>A) c.255+67G>A (n.255+67G>A) | |
16 | g.28887341G>T | CA2806423596 | ATP2A1 | c.630+67G>T (n.630+67G>T) c.255+67G>T (n.255+67G>T) | |
16 | g.28887342G>A | CA2632535999 | ATP2A1 | c.630+68G>A (n.630+68G>A) c.255+68G>A (n.255+68G>A) | gnomAD v4 |
16 | g.28887343C= | CA2215887144 | ATP2A1 | c.630+69C= (n.630+69C=) c.255+69C= (n.255+69C=) | |
16 | g.28887343C>T | CA279232072 | ATP2A1 | c.630+69C>T (n.630+69C>T) c.255+69C>T (n.255+69C>T) | dbSNP gnomAD v4 |
16 | g.28887343_28887345delinsCGT | CA2215887148 | ATP2A1 | c.630+69_630+71delinsCGT (n.630+69_630+71delinsCGT) c.255+69_255+71delinsCGT (n.255+69_255+71delinsCGT) | |
16 | g.28887344G>A | CA279232078 | ATP2A1 | c.630+70G>A (n.630+70G>A) c.255+70G>A (n.255+70G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.28887344G= | CA2215887153 | ATP2A1 | c.630+70G= (n.630+70G=) c.255+70G= (n.255+70G=) | |
16 | g.28887344G>T | CA2632536001 | ATP2A1 | c.630+70G>T (n.630+70G>T) c.255+70G>T (n.255+70G>T) | gnomAD v4 |
16 | g.28887347_28887348del | CA2215887152 | ATP2A1 | c.630+73_630+74del (n.630+73_630+74del) c.255+73_255+74del (n.255+73_255+74del) | dbSNP |