| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16996009del | CA645512530 | ATP13A2 | c.1514del (p.Gly505AlafsTer19) c.1499del (p.Gly500AlafsTer19) n.1122del n.542del c.191del (p.Gly64AlafsTer29) c.542del (p.Gly181AlafsTer29) c.1511del (p.Gly504AlafsTer19) c.1487del (p.Gly496AlafsTer19) c.1496del (p.Gly499AlafsTer19) c.1472del (p.Gly491AlafsTer19) c.1514del (p.Gly505AlafsTer5) c.1514del (p.Gly505AlafsTer29) c.1484del (p.Gly495AlafsTer5) | COSMIC COSMIC |
| 1 | g.16996008C>A | CA338251860 | ATP13A2 | c.1510G>T (p.Gly504Trp) c.1495G>T (p.Gly499Trp) n.1118G>T n.538G>T c.187G>T (p.Gly63Trp) c.538G>T (p.Gly180Trp) c.1507G>T (p.Gly503Trp) c.1483G>T (p.Gly495Trp) c.1492G>T (p.Gly498Trp) c.1468G>T (p.Gly490Trp) c.1480G>T (p.Gly494Trp) | |
| 1 | g.16996008C= | CA1141580613 | ATP13A2 | c.1510G= (p.Gly504=) c.1495G= (p.Gly499=) n.1118G= n.538G= c.187G= (p.Gly63=) c.538G= (p.Gly180=) c.1507G= (p.Gly503=) c.1483G= (p.Gly495=) c.1492G= (p.Gly498=) c.1468G= (p.Gly490=) c.1480G= (p.Gly494=) | |
| 1 | g.16996008C>G | CA251716 | ATP13A2 | c.1510G>C (p.Gly504Arg) c.1495G>C (p.Gly499Arg) n.1118G>C n.538G>C c.187G>C (p.Gly63Arg) c.538G>C (p.Gly180Arg) c.1507G>C (p.Gly503Arg) c.1483G>C (p.Gly495Arg) c.1492G>C (p.Gly498Arg) c.1468G>C (p.Gly490Arg) c.1480G>C (p.Gly494Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.16996008C>T | CA338251861 | ATP13A2 | c.1510G>A (p.Gly504Arg) c.1495G>A (p.Gly499Arg) n.1118G>A n.538G>A c.187G>A (p.Gly63Arg) c.538G>A (p.Gly180Arg) c.1507G>A (p.Gly503Arg) c.1483G>A (p.Gly495Arg) c.1492G>A (p.Gly498Arg) c.1468G>A (p.Gly490Arg) c.1480G>A (p.Gly494Arg) | gnomAD v4 |
| 1 | g.16996009C>A | CA416094599 | ATP13A2 | c.1509G>T (p.Leu503=) c.1494G>T (p.Leu498=) n.1117G>T n.537G>T c.186G>T (p.Leu62=) c.537G>T (p.Leu179=) c.1506G>T (p.Leu502=) c.1482G>T (p.Leu494=) c.1491G>T (p.Leu497=) c.1467G>T (p.Leu489=) c.1479G>T (p.Leu493=) | gnomAD v4 |
| 1 | g.16996009C= | CA1156030459 | ATP13A2 | c.1509G= (p.Leu503=) c.1494G= (p.Leu498=) n.1117G= n.537G= c.186G= (p.Leu62=) c.537G= (p.Leu179=) c.1506G= (p.Leu502=) c.1482G= (p.Leu494=) c.1491G= (p.Leu497=) c.1467G= (p.Leu489=) c.1479G= (p.Leu493=) | |
| 1 | g.16996009C>G | CA416094598 | ATP13A2 | c.1509G>C (p.Leu503=) c.1494G>C (p.Leu498=) n.1117G>C n.537G>C c.186G>C (p.Leu62=) c.537G>C (p.Leu179=) c.1506G>C (p.Leu502=) c.1482G>C (p.Leu494=) c.1491G>C (p.Leu497=) c.1467G>C (p.Leu489=) c.1479G>C (p.Leu493=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16996009C>T | CA416094597 | ATP13A2 | c.1509G>A (p.Leu503=) c.1494G>A (p.Leu498=) n.1117G>A n.537G>A c.186G>A (p.Leu62=) c.537G>A (p.Leu179=) c.1506G>A (p.Leu502=) c.1482G>A (p.Leu494=) c.1491G>A (p.Leu497=) c.1467G>A (p.Leu489=) c.1479G>A (p.Leu493=) | |
| 1 | g.16996009_16996010delinsCA | CA1156030461 | ATP13A2 | c.1508_1509delinsTG (p.Leu503=) c.1493_1494delinsTG (p.Leu498=) n.1116_1117delinsTG n.536_537delinsTG c.185_186delinsTG (p.Leu62=) c.536_537delinsTG (p.Leu179=) c.1505_1506delinsTG (p.Leu502=) c.1481_1482delinsTG (p.Leu494=) c.1490_1491delinsTG (p.Leu497=) c.1466_1467delinsTG (p.Leu489=) c.1478_1479delinsTG (p.Leu493=) | |
| 1 | g.16996010del | CA521449968 | ATP13A2 | c.1508del (p.Leu503ArgfsTer21) c.1493del (p.Leu498ArgfsTer21) n.1116del n.536del c.185del (p.Leu62ArgfsTer?) c.536del (p.Leu179ArgfsTer?) c.1505del (p.Leu502ArgfsTer21) c.1481del (p.Leu494ArgfsTer21) c.1490del (p.Leu497ArgfsTer21) c.1466del (p.Leu489ArgfsTer21) c.1508del (p.Leu503ArgfsTer7) c.1508del (p.Leu503ArgfsTer?) c.1478del (p.Leu493ArgfsTer7) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16996010A>C | CA338251863 | ATP13A2 | c.1508T>G (p.Leu503Arg) c.1493T>G (p.Leu498Arg) n.1116T>G n.536T>G c.185T>G (p.Leu62Arg) c.536T>G (p.Leu179Arg) c.1505T>G (p.Leu502Arg) c.1481T>G (p.Leu494Arg) c.1490T>G (p.Leu497Arg) c.1466T>G (p.Leu489Arg) c.1478T>G (p.Leu493Arg) | gnomAD v4 |
| 1 | g.16996010A>G | CA338251864 | ATP13A2 | c.1508T>C (p.Leu503Pro) c.1493T>C (p.Leu498Pro) n.1116T>C n.536T>C c.185T>C (p.Leu62Pro) c.536T>C (p.Leu179Pro) c.1505T>C (p.Leu502Pro) c.1481T>C (p.Leu494Pro) c.1490T>C (p.Leu497Pro) c.1466T>C (p.Leu489Pro) c.1478T>C (p.Leu493Pro) | |
| 1 | g.16996010A>T | CA338251865 | ATP13A2 | c.1508T>A (p.Leu503Gln) c.1493T>A (p.Leu498Gln) n.1116T>A n.536T>A c.185T>A (p.Leu62Gln) c.536T>A (p.Leu179Gln) c.1505T>A (p.Leu502Gln) c.1481T>A (p.Leu494Gln) c.1490T>A (p.Leu497Gln) c.1466T>A (p.Leu489Gln) c.1478T>A (p.Leu493Gln) | |
| 1 | g.16996011G>A | CA416094603 | ATP13A2 | c.1507C>T (p.Leu503=) c.1492C>T (p.Leu498=) n.1115C>T n.535C>T c.184C>T (p.Leu62=) c.535C>T (p.Leu179=) c.1504C>T (p.Leu502=) c.1480C>T (p.Leu494=) c.1489C>T (p.Leu497=) c.1465C>T (p.Leu489=) c.1477C>T (p.Leu493=) | COSMIC COSMIC |
| 1 | g.16996011G>C | CA338251866 | ATP13A2 | c.1507C>G (p.Leu503Val) c.1492C>G (p.Leu498Val) n.1115C>G n.535C>G c.184C>G (p.Leu62Val) c.535C>G (p.Leu179Val) c.1504C>G (p.Leu502Val) c.1480C>G (p.Leu494Val) c.1489C>G (p.Leu497Val) c.1465C>G (p.Leu489Val) c.1477C>G (p.Leu493Val) | |
| 1 | g.16996011G>T | CA338251867 | ATP13A2 | c.1507C>A (p.Leu503Met) c.1492C>A (p.Leu498Met) n.1115C>A n.535C>A c.184C>A (p.Leu62Met) c.535C>A (p.Leu179Met) c.1504C>A (p.Leu502Met) c.1480C>A (p.Leu494Met) c.1489C>A (p.Leu497Met) c.1465C>A (p.Leu489Met) c.1477C>A (p.Leu493Met) | |
| 1 | g.16996013_16996026del | CA2574234387 | ATP13A2 | c.1494_1507del (p.Leu499GlyfsTer17) c.1479_1492del (p.Leu494GlyfsTer17) n.1102_1115del n.522_535del c.171_184del (p.Leu58GlyfsTer?) c.522_535del (p.Leu175GlyfsTer?) c.1491_1504del (p.Leu498GlyfsTer17) c.1467_1480del (p.Leu490GlyfsTer17) c.1476_1489del (p.Leu493GlyfsTer17) c.1452_1465del (p.Leu485GlyfsTer17) c.1494_1507del (p.Leu499GlyfsTer12) c.1494_1507del (p.Leu499GlyfsTer?) c.1464_1477del (p.Leu489GlyfsTer12) | |
| 1 | g.16996012G>A | CA416094604 | ATP13A2 | c.1506C>T (p.Asn502=) c.1491C>T (p.Asn497=) n.1114C>T n.534C>T c.183C>T (p.Asn61=) c.534C>T (p.Asn178=) c.1503C>T (p.Asn501=) c.1479C>T (p.Asn493=) c.1488C>T (p.Asn496=) c.1464C>T (p.Asn488=) c.1476C>T (p.Asn492=) | |
| 1 | g.16996012G>C | CA338251868 | ATP13A2 | c.1506C>G (p.Asn502Lys) c.1491C>G (p.Asn497Lys) n.1114C>G n.534C>G c.183C>G (p.Asn61Lys) c.534C>G (p.Asn178Lys) c.1503C>G (p.Asn501Lys) c.1479C>G (p.Asn493Lys) c.1488C>G (p.Asn496Lys) c.1464C>G (p.Asn488Lys) c.1476C>G (p.Asn492Lys) | |
| 1 | g.16996012G>T | CA338251870 | ATP13A2 | c.1506C>A (p.Asn502Lys) c.1491C>A (p.Asn497Lys) n.1114C>A n.534C>A c.183C>A (p.Asn61Lys) c.534C>A (p.Asn178Lys) c.1503C>A (p.Asn501Lys) c.1479C>A (p.Asn493Lys) c.1488C>A (p.Asn496Lys) c.1464C>A (p.Asn488Lys) c.1476C>A (p.Asn492Lys) | |
| 1 | g.16996013T>A | CA338251871 | ATP13A2 | c.1505A>T (p.Asn502Ile) c.1490A>T (p.Asn497Ile) n.1113A>T n.533A>T c.182A>T (p.Asn61Ile) c.533A>T (p.Asn178Ile) c.1502A>T (p.Asn501Ile) c.1478A>T (p.Asn493Ile) c.1487A>T (p.Asn496Ile) c.1463A>T (p.Asn488Ile) c.1475A>T (p.Asn492Ile) | |
| 1 | g.16996013T>C | CA338251872 | ATP13A2 | c.1505A>G (p.Asn502Ser) c.1490A>G (p.Asn497Ser) n.1113A>G n.533A>G c.182A>G (p.Asn61Ser) c.533A>G (p.Asn178Ser) c.1502A>G (p.Asn501Ser) c.1478A>G (p.Asn493Ser) c.1487A>G (p.Asn496Ser) c.1463A>G (p.Asn488Ser) c.1475A>G (p.Asn492Ser) | COSMIC COSMIC |
| 1 | g.16996013T>G | CA338251873 | ATP13A2 | c.1505A>C (p.Asn502Thr) c.1490A>C (p.Asn497Thr) n.1113A>C n.533A>C c.182A>C (p.Asn61Thr) c.533A>C (p.Asn178Thr) c.1502A>C (p.Asn501Thr) c.1478A>C (p.Asn493Thr) c.1487A>C (p.Asn496Thr) c.1463A>C (p.Asn488Thr) c.1475A>C (p.Asn492Thr) | gnomAD v4 |
| 1 | g.16996014T>A | CA338251884 | ATP13A2 | c.1504A>T (p.Asn502Tyr) c.1489A>T (p.Asn497Tyr) n.1112A>T n.532A>T c.181A>T (p.Asn61Tyr) c.532A>T (p.Asn178Tyr) c.1501A>T (p.Asn501Tyr) c.1477A>T (p.Asn493Tyr) c.1486A>T (p.Asn496Tyr) c.1462A>T (p.Asn488Tyr) c.1474A>T (p.Asn492Tyr) | |
| 1 | g.16996014T>C | CA338251877 | ATP13A2 | c.1504A>G (p.Asn502Asp) c.1489A>G (p.Asn497Asp) n.1112A>G n.532A>G c.181A>G (p.Asn61Asp) c.532A>G (p.Asn178Asp) c.1501A>G (p.Asn501Asp) c.1477A>G (p.Asn493Asp) c.1486A>G (p.Asn496Asp) c.1462A>G (p.Asn488Asp) c.1474A>G (p.Asn492Asp) | |
| 1 | g.16996014T>G | CA637193 | ATP13A2 | c.1504A>C (p.Asn502His) c.1489A>C (p.Asn497His) n.1112A>C n.532A>C c.181A>C (p.Asn61His) c.532A>C (p.Asn178His) c.1501A>C (p.Asn501His) c.1477A>C (p.Asn493His) c.1486A>C (p.Asn496His) c.1462A>C (p.Asn488His) c.1474A>C (p.Asn492His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16996014T= | CA1156030468 | ATP13A2 | c.1504A= (p.Asn502=) c.1489A= (p.Asn497=) n.1112A= n.532A= c.181A= (p.Asn61=) c.532A= (p.Asn178=) c.1501A= (p.Asn501=) c.1477A= (p.Asn493=) c.1486A= (p.Asn496=) c.1462A= (p.Asn488=) c.1474A= (p.Asn492=) | |
| 1 | g.16996015G>A | CA416094613 | ATP13A2 | c.1503C>T (p.Ile501=) c.1488C>T (p.Ile496=) n.1111C>T n.531C>T c.180C>T (p.Ile60=) c.531C>T (p.Ile177=) c.1500C>T (p.Ile500=) c.1476C>T (p.Ile492=) c.1485C>T (p.Ile495=) c.1461C>T (p.Ile487=) c.1473C>T (p.Ile491=) | gnomAD v4 |
| 1 | g.16996015G>C | CA338251887 | ATP13A2 | c.1503C>G (p.Ile501Met) c.1488C>G (p.Ile496Met) n.1111C>G n.531C>G c.180C>G (p.Ile60Met) c.531C>G (p.Ile177Met) c.1500C>G (p.Ile500Met) c.1476C>G (p.Ile492Met) c.1485C>G (p.Ile495Met) c.1461C>G (p.Ile487Met) c.1473C>G (p.Ile491Met) | gnomAD v4 |
| 1 | g.16996015G>T | CA416094614 | ATP13A2 | c.1503C>A (p.Ile501=) c.1488C>A (p.Ile496=) n.1111C>A n.531C>A c.180C>A (p.Ile60=) c.531C>A (p.Ile177=) c.1500C>A (p.Ile500=) c.1476C>A (p.Ile492=) c.1485C>A (p.Ile495=) c.1461C>A (p.Ile487=) c.1473C>A (p.Ile491=) | |
| 1 | g.16996016A>C | CA338251890 | ATP13A2 | c.1502T>G (p.Ile501Ser) c.1487T>G (p.Ile496Ser) n.1110T>G n.530T>G c.179T>G (p.Ile60Ser) c.530T>G (p.Ile177Ser) c.1499T>G (p.Ile500Ser) c.1475T>G (p.Ile492Ser) c.1484T>G (p.Ile495Ser) c.1460T>G (p.Ile487Ser) c.1472T>G (p.Ile491Ser) | |
| 1 | g.16996016A>G | CA338251896 | ATP13A2 | c.1502T>C (p.Ile501Thr) c.1487T>C (p.Ile496Thr) n.1110T>C n.530T>C c.179T>C (p.Ile60Thr) c.530T>C (p.Ile177Thr) c.1499T>C (p.Ile500Thr) c.1475T>C (p.Ile492Thr) c.1484T>C (p.Ile495Thr) c.1460T>C (p.Ile487Thr) c.1472T>C (p.Ile491Thr) | |
| 1 | g.16996016A>T | CA338251899 | ATP13A2 | c.1502T>A (p.Ile501Asn) c.1487T>A (p.Ile496Asn) n.1110T>A n.530T>A c.179T>A (p.Ile60Asn) c.530T>A (p.Ile177Asn) c.1499T>A (p.Ile500Asn) c.1475T>A (p.Ile492Asn) c.1484T>A (p.Ile495Asn) c.1460T>A (p.Ile487Asn) c.1472T>A (p.Ile491Asn) | |
| 1 | g.16996017T>A | CA338251900 | ATP13A2 | c.1501A>T (p.Ile501Phe) c.1486A>T (p.Ile496Phe) n.1109A>T n.529A>T c.178A>T (p.Ile60Phe) c.529A>T (p.Ile177Phe) c.1498A>T (p.Ile500Phe) c.1474A>T (p.Ile492Phe) c.1483A>T (p.Ile495Phe) c.1459A>T (p.Ile487Phe) c.1471A>T (p.Ile491Phe) | |
| 1 | g.16996017T>C | CA338251901 | ATP13A2 | c.1501A>G (p.Ile501Val) c.1486A>G (p.Ile496Val) n.1109A>G n.529A>G c.178A>G (p.Ile60Val) c.529A>G (p.Ile177Val) c.1498A>G (p.Ile500Val) c.1474A>G (p.Ile492Val) c.1483A>G (p.Ile495Val) c.1459A>G (p.Ile487Val) c.1471A>G (p.Ile491Val) | |
| 1 | g.16996017T>G | CA338251902 | ATP13A2 | c.1501A>C (p.Ile501Leu) c.1486A>C (p.Ile496Leu) n.1109A>C n.529A>C c.178A>C (p.Ile60Leu) c.529A>C (p.Ile177Leu) c.1498A>C (p.Ile500Leu) c.1474A>C (p.Ile492Leu) c.1483A>C (p.Ile495Leu) c.1459A>C (p.Ile487Leu) c.1471A>C (p.Ile491Leu) | |
| 1 | g.16996018G>A | CA416094623 | ATP13A2 | c.1500C>T (p.Arg500=) c.1485C>T (p.Arg495=) n.1108C>T n.528C>T c.177C>T (p.Arg59=) c.528C>T (p.Arg176=) c.1497C>T (p.Arg499=) c.1473C>T (p.Arg491=) c.1482C>T (p.Arg494=) c.1458C>T (p.Arg486=) c.1470C>T (p.Arg490=) | |
| 1 | g.16996018G>C | CA416094624 | ATP13A2 | c.1500C>G (p.Arg500=) c.1485C>G (p.Arg495=) n.1108C>G n.528C>G c.177C>G (p.Arg59=) c.528C>G (p.Arg176=) c.1497C>G (p.Arg499=) c.1473C>G (p.Arg491=) c.1482C>G (p.Arg494=) c.1458C>G (p.Arg486=) c.1470C>G (p.Arg490=) | |
| 1 | g.16996018G>T | CA416094627 | ATP13A2 | c.1500C>A (p.Arg500=) c.1485C>A (p.Arg495=) n.1108C>A n.528C>A c.177C>A (p.Arg59=) c.528C>A (p.Arg176=) c.1497C>A (p.Arg499=) c.1473C>A (p.Arg491=) c.1482C>A (p.Arg494=) c.1458C>A (p.Arg486=) c.1470C>A (p.Arg490=) | gnomAD v4 |
| 1 | g.16996019C>A | CA338251903 | ATP13A2 | c.1499G>T (p.Arg500Leu) c.1484G>T (p.Arg495Leu) n.1107G>T n.527G>T c.176G>T (p.Arg59Leu) c.527G>T (p.Arg176Leu) c.1496G>T (p.Arg499Leu) c.1472G>T (p.Arg491Leu) c.1481G>T (p.Arg494Leu) c.1457G>T (p.Arg486Leu) c.1469G>T (p.Arg490Leu) | dbSNP gnomAD v4 |
| 1 | g.16996019C= | CA1156030475 | ATP13A2 | c.1499G= (p.Arg500=) c.1484G= (p.Arg495=) n.1107G= n.527G= c.176G= (p.Arg59=) c.527G= (p.Arg176=) c.1496G= (p.Arg499=) c.1472G= (p.Arg491=) c.1481G= (p.Arg494=) c.1457G= (p.Arg486=) c.1469G= (p.Arg490=) | |
| 1 | g.16996019C>G | CA338251904 | ATP13A2 | c.1499G>C (p.Arg500Pro) c.1484G>C (p.Arg495Pro) n.1107G>C n.527G>C c.176G>C (p.Arg59Pro) c.527G>C (p.Arg176Pro) c.1496G>C (p.Arg499Pro) c.1472G>C (p.Arg491Pro) c.1481G>C (p.Arg494Pro) c.1457G>C (p.Arg486Pro) c.1469G>C (p.Arg490Pro) | |
| 1 | g.16996019C>T | CA637194 | ATP13A2 | c.1499G>A (p.Arg500His) c.1484G>A (p.Arg495His) n.1107G>A n.527G>A c.176G>A (p.Arg59His) c.527G>A (p.Arg176His) c.1496G>A (p.Arg499His) c.1472G>A (p.Arg491His) c.1481G>A (p.Arg494His) c.1457G>A (p.Arg486His) c.1469G>A (p.Arg490His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16996020G>A | CA637195 | ATP13A2 | c.1498C>T (p.Arg500Cys) c.1483C>T (p.Arg495Cys) n.1106C>T n.526C>T c.175C>T (p.Arg59Cys) c.526C>T (p.Arg176Cys) c.1495C>T (p.Arg499Cys) c.1471C>T (p.Arg491Cys) c.1480C>T (p.Arg494Cys) c.1456C>T (p.Arg486Cys) c.1468C>T (p.Arg490Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.16996020G>C | CA338251910 | ATP13A2 | c.1498C>G (p.Arg500Gly) c.1483C>G (p.Arg495Gly) n.1106C>G n.526C>G c.175C>G (p.Arg59Gly) c.526C>G (p.Arg176Gly) c.1495C>G (p.Arg499Gly) c.1471C>G (p.Arg491Gly) c.1480C>G (p.Arg494Gly) c.1456C>G (p.Arg486Gly) c.1468C>G (p.Arg490Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16996020G= | CA1156030485 | ATP13A2 | c.1498C= (p.Arg500=) c.1483C= (p.Arg495=) n.1106C= n.526C= c.175C= (p.Arg59=) c.526C= (p.Arg176=) c.1495C= (p.Arg499=) c.1471C= (p.Arg491=) c.1480C= (p.Arg494=) c.1456C= (p.Arg486=) c.1468C= (p.Arg490=) | |
| 1 | g.16996020G>T | CA338251906 | ATP13A2 | c.1498C>A (p.Arg500Ser) c.1483C>A (p.Arg495Ser) n.1106C>A n.526C>A c.175C>A (p.Arg59Ser) c.526C>A (p.Arg176Ser) c.1495C>A (p.Arg499Ser) c.1471C>A (p.Arg491Ser) c.1480C>A (p.Arg494Ser) c.1456C>A (p.Arg486Ser) c.1468C>A (p.Arg490Ser) | |
| 1 | g.16996021C>A | CA416094633 | ATP13A2 | c.1497G>T (p.Leu499=) c.1482G>T (p.Leu494=) n.1105G>T n.525G>T c.174G>T (p.Leu58=) c.525G>T (p.Leu175=) c.1494G>T (p.Leu498=) c.1470G>T (p.Leu490=) c.1479G>T (p.Leu493=) c.1455G>T (p.Leu485=) c.1467G>T (p.Leu489=) | |
| 1 | g.16996021C= | CA1156030489 | ATP13A2 | c.1497G= (p.Leu499=) c.1482G= (p.Leu494=) n.1105G= n.525G= c.174G= (p.Leu58=) c.525G= (p.Leu175=) c.1494G= (p.Leu498=) c.1470G= (p.Leu490=) c.1479G= (p.Leu493=) c.1455G= (p.Leu485=) c.1467G= (p.Leu489=) |