Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.16996044_16996046delinsCCT | CA1156030511 | ATP13A2 | c.1472_1474delinsAGG (p.Gln491=) c.1457_1459delinsAGG (p.Gln486=) n.1080_1082delinsAGG n.500_502delinsAGG c.149_151delinsAGG (p.Gln50=) n.560_562delinsAGG c.500_502delinsAGG (p.Gln167=) c.1469_1471delinsAGG (p.Gln490=) c.1445_1447delinsAGG (p.Gln482=) c.1454_1456delinsAGG (p.Gln485=) c.1430_1432delinsAGG (p.Gln477=) c.1442_1444delinsAGG (p.Gln481=) | |
1 | g.16996045C>A | CA338252143 | ATP13A2 | c.1473G>T (p.Gln491His) c.1458G>T (p.Gln486His) n.1081G>T n.501G>T c.150G>T (p.Gln50His) n.561G>T c.501G>T (p.Gln167His) c.1470G>T (p.Gln490His) c.1446G>T (p.Gln482His) c.1455G>T (p.Gln485His) c.1431G>T (p.Gln477His) c.1443G>T (p.Gln481His) | |
1 | g.16996045C>G | CA338252149 | ATP13A2 | c.1473G>C (p.Gln491His) c.1458G>C (p.Gln486His) n.1081G>C n.501G>C c.150G>C (p.Gln50His) n.561G>C c.501G>C (p.Gln167His) c.1470G>C (p.Gln490His) c.1446G>C (p.Gln482His) c.1455G>C (p.Gln485His) c.1431G>C (p.Gln477His) c.1443G>C (p.Gln481His) | |
1 | g.16996045C>T | CA416094726 | ATP13A2 | c.1473G>A (p.Gln491=) c.1458G>A (p.Gln486=) n.1081G>A n.501G>A c.150G>A (p.Gln50=) n.561G>A c.501G>A (p.Gln167=) c.1470G>A (p.Gln490=) c.1446G>A (p.Gln482=) c.1455G>A (p.Gln485=) c.1431G>A (p.Gln477=) c.1443G>A (p.Gln481=) | |
1 | g.16996045_16996046del | CA637197 | ATP13A2 | c.1472_1473del (p.Gln491ArgfsTer29) c.1457_1458del (p.Gln486ArgfsTer29) n.1080_1081del n.500_501del c.149_150del (p.Gln50ArgfsTer?) n.560_561del c.500_501del (p.Gln167ArgfsTer?) c.1469_1470del (p.Gln490ArgfsTer29) c.1445_1446del (p.Gln482ArgfsTer29) c.1454_1455del (p.Gln485ArgfsTer29) c.1430_1431del (p.Gln477ArgfsTer29) c.1472_1473del (p.Gln491ArgfsTer24) c.1472_1473del (p.Gln491ArgfsTer?) c.1442_1443del (p.Gln481ArgfsTer24) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.16996046T>A | CA338252152 | ATP13A2 | c.1472A>T (p.Gln491Leu) c.1457A>T (p.Gln486Leu) n.1080A>T n.500A>T c.149A>T (p.Gln50Leu) n.560A>T c.500A>T (p.Gln167Leu) c.1469A>T (p.Gln490Leu) c.1445A>T (p.Gln482Leu) c.1454A>T (p.Gln485Leu) c.1430A>T (p.Gln477Leu) c.1442A>T (p.Gln481Leu) | |
1 | g.16996046T>C | CA338252153 | ATP13A2 | c.1472A>G (p.Gln491Arg) c.1457A>G (p.Gln486Arg) n.1080A>G n.500A>G c.149A>G (p.Gln50Arg) n.560A>G c.500A>G (p.Gln167Arg) c.1469A>G (p.Gln490Arg) c.1445A>G (p.Gln482Arg) c.1454A>G (p.Gln485Arg) c.1430A>G (p.Gln477Arg) c.1442A>G (p.Gln481Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16996046T>G | CA338252154 | ATP13A2 | c.1472A>C (p.Gln491Pro) c.1457A>C (p.Gln486Pro) n.1080A>C n.500A>C c.149A>C (p.Gln50Pro) n.560A>C c.500A>C (p.Gln167Pro) c.1469A>C (p.Gln490Pro) c.1445A>C (p.Gln482Pro) c.1454A>C (p.Gln485Pro) c.1430A>C (p.Gln477Pro) c.1442A>C (p.Gln481Pro) | gnomAD v4 |
1 | g.16996046T= | CA1156030517 | ATP13A2 | c.1472A= (p.Gln491=) c.1457A= (p.Gln486=) n.1080A= n.500A= c.149A= (p.Gln50=) n.560A= c.500A= (p.Gln167=) c.1469A= (p.Gln490=) c.1445A= (p.Gln482=) c.1454A= (p.Gln485=) c.1430A= (p.Gln477=) c.1442A= (p.Gln481=) | |
1 | g.16996047G>A | CA338252155 | ATP13A2 | c.1471C>T (p.Gln491Ter) c.1456C>T (p.Gln486Ter) n.1079C>T n.499C>T c.148C>T (p.Gln50Ter) n.559C>T c.499C>T (p.Gln167Ter) c.1468C>T (p.Gln490Ter) c.1444C>T (p.Gln482Ter) c.1453C>T (p.Gln485Ter) c.1429C>T (p.Gln477Ter) c.1441C>T (p.Gln481Ter) | |
1 | g.16996047G>C | CA338252159 | ATP13A2 | c.1471C>G (p.Gln491Glu) c.1456C>G (p.Gln486Glu) n.1079C>G n.499C>G c.148C>G (p.Gln50Glu) n.559C>G c.499C>G (p.Gln167Glu) c.1468C>G (p.Gln490Glu) c.1444C>G (p.Gln482Glu) c.1453C>G (p.Gln485Glu) c.1429C>G (p.Gln477Glu) c.1441C>G (p.Gln481Glu) | |
1 | g.16996047G>T | CA338252156 | ATP13A2 | c.1471C>A (p.Gln491Lys) c.1456C>A (p.Gln486Lys) n.1079C>A n.499C>A c.148C>A (p.Gln50Lys) n.559C>A c.499C>A (p.Gln167Lys) c.1468C>A (p.Gln490Lys) c.1444C>A (p.Gln482Lys) c.1453C>A (p.Gln485Lys) c.1429C>A (p.Gln477Lys) c.1441C>A (p.Gln481Lys) | |
1 | g.16996048T>A | CA338252160 | ATP13A2 | c.1470A>T (p.Arg490Ser) c.1455A>T (p.Arg485Ser) n.1078A>T n.498A>T c.147A>T (p.Arg49Ser) n.558A>T c.498A>T (p.Arg166Ser) c.1467A>T (p.Arg489Ser) c.1443A>T (p.Arg481Ser) c.1452A>T (p.Arg484Ser) c.1428A>T (p.Arg476Ser) c.1440A>T (p.Arg480Ser) | |
1 | g.16996048T>C | CA416094732 | ATP13A2 | c.1470A>G (p.Arg490=) c.1455A>G (p.Arg485=) n.1078A>G n.498A>G c.147A>G (p.Arg49=) n.558A>G c.498A>G (p.Arg166=) c.1467A>G (p.Arg489=) c.1443A>G (p.Arg481=) c.1452A>G (p.Arg484=) c.1428A>G (p.Arg476=) c.1440A>G (p.Arg480=) | |
1 | g.16996048T>G | CA338252161 | ATP13A2 | c.1470A>C (p.Arg490Ser) c.1455A>C (p.Arg485Ser) n.1078A>C n.498A>C c.147A>C (p.Arg49Ser) n.558A>C c.498A>C (p.Arg166Ser) c.1467A>C (p.Arg489Ser) c.1443A>C (p.Arg481Ser) c.1452A>C (p.Arg484Ser) c.1428A>C (p.Arg476Ser) c.1440A>C (p.Arg480Ser) | |
1 | g.16996049C>A | CA338252164 | ATP13A2 | c.1469G>T (p.Arg490Ile) c.1454G>T (p.Arg485Ile) n.1077G>T n.497G>T c.146G>T (p.Arg49Ile) n.557G>T c.497G>T (p.Arg166Ile) c.1466G>T (p.Arg489Ile) c.1442G>T (p.Arg481Ile) c.1451G>T (p.Arg484Ile) c.1427G>T (p.Arg476Ile) c.1439G>T (p.Arg480Ile) | |
1 | g.16996049C>G | CA338252166 | ATP13A2 | c.1469G>C (p.Arg490Thr) c.1454G>C (p.Arg485Thr) n.1077G>C n.497G>C c.146G>C (p.Arg49Thr) n.557G>C c.497G>C (p.Arg166Thr) c.1466G>C (p.Arg489Thr) c.1442G>C (p.Arg481Thr) c.1451G>C (p.Arg484Thr) c.1427G>C (p.Arg476Thr) c.1439G>C (p.Arg480Thr) | |
1 | g.16996049C>T | CA338252167 | ATP13A2 | c.1469G>A (p.Arg490Lys) c.1454G>A (p.Arg485Lys) n.1077G>A n.497G>A c.146G>A (p.Arg49Lys) n.557G>A c.497G>A (p.Arg166Lys) c.1466G>A (p.Arg489Lys) c.1442G>A (p.Arg481Lys) c.1451G>A (p.Arg484Lys) c.1427G>A (p.Arg476Lys) c.1439G>A (p.Arg480Lys) | gnomAD v4 |
1 | g.16996050T>A | CA338252169 | ATP13A2 | c.1468A>T (p.Arg490Ter) c.1453A>T (p.Arg485Ter) n.1076A>T n.496A>T c.145A>T (p.Arg49Ter) n.556A>T c.496A>T (p.Arg166Ter) c.1465A>T (p.Arg489Ter) c.1441A>T (p.Arg481Ter) c.1450A>T (p.Arg484Ter) c.1426A>T (p.Arg476Ter) c.1438A>T (p.Arg480Ter) | |
1 | g.16996050T>C | CA338252170 | ATP13A2 | c.1468A>G (p.Arg490Gly) c.1453A>G (p.Arg485Gly) n.1076A>G n.496A>G c.145A>G (p.Arg49Gly) n.556A>G c.496A>G (p.Arg166Gly) c.1465A>G (p.Arg489Gly) c.1441A>G (p.Arg481Gly) c.1450A>G (p.Arg484Gly) c.1426A>G (p.Arg476Gly) c.1438A>G (p.Arg480Gly) | |
1 | g.16996050T>G | CA416094737 | ATP13A2 | c.1468A>C (p.Arg490=) c.1453A>C (p.Arg485=) n.1076A>C n.496A>C c.145A>C (p.Arg49=) n.556A>C c.496A>C (p.Arg166=) c.1465A>C (p.Arg489=) c.1441A>C (p.Arg481=) c.1450A>C (p.Arg484=) c.1426A>C (p.Arg476=) c.1438A>C (p.Arg480=) | |
1 | g.16996051C>A | CA416094740 | ATP13A2 | c.1467G>T (p.Arg489=) c.1452G>T (p.Arg484=) n.1075G>T n.495G>T c.144G>T (p.Arg48=) n.555G>T c.495G>T (p.Arg165=) c.1464G>T (p.Arg488=) c.1440G>T (p.Arg480=) c.1449G>T (p.Arg483=) c.1425G>T (p.Arg475=) c.1437G>T (p.Arg479=) | |
1 | g.16996051C>G | CA416094742 | ATP13A2 | c.1467G>C (p.Arg489=) c.1452G>C (p.Arg484=) n.1075G>C n.495G>C c.144G>C (p.Arg48=) n.555G>C c.495G>C (p.Arg165=) c.1464G>C (p.Arg488=) c.1440G>C (p.Arg480=) c.1449G>C (p.Arg483=) c.1425G>C (p.Arg475=) c.1437G>C (p.Arg479=) | |
1 | g.16996051C>T | CA416094743 | ATP13A2 | c.1467G>A (p.Arg489=) c.1452G>A (p.Arg484=) n.1075G>A n.495G>A c.144G>A (p.Arg48=) n.555G>A c.495G>A (p.Arg165=) c.1464G>A (p.Arg488=) c.1440G>A (p.Arg480=) c.1449G>A (p.Arg483=) c.1425G>A (p.Arg475=) c.1437G>A (p.Arg479=) | |
1 | g.16996052C>A | CA637199 | ATP13A2 | c.1466G>T (p.Arg489Leu) c.1451G>T (p.Arg484Leu) n.1074G>T n.494G>T c.143G>T (p.Arg48Leu) n.554G>T c.494G>T (p.Arg165Leu) c.1463G>T (p.Arg488Leu) c.1439G>T (p.Arg480Leu) c.1448G>T (p.Arg483Leu) c.1424G>T (p.Arg475Leu) c.1436G>T (p.Arg479Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16996052C= | CA1156030522 | ATP13A2 | c.1466G= (p.Arg489=) c.1451G= (p.Arg484=) n.1074G= n.494G= c.143G= (p.Arg48=) n.554G= c.494G= (p.Arg165=) c.1463G= (p.Arg488=) c.1439G= (p.Arg480=) c.1448G= (p.Arg483=) c.1424G= (p.Arg475=) c.1436G= (p.Arg479=) | |
1 | g.16996052C>G | CA338252171 | ATP13A2 | c.1466G>C (p.Arg489Pro) c.1451G>C (p.Arg484Pro) n.1074G>C n.494G>C c.143G>C (p.Arg48Pro) n.554G>C c.494G>C (p.Arg165Pro) c.1463G>C (p.Arg488Pro) c.1439G>C (p.Arg480Pro) c.1448G>C (p.Arg483Pro) c.1424G>C (p.Arg475Pro) c.1436G>C (p.Arg479Pro) | |
1 | g.16996052C>T | CA637198 | ATP13A2 | c.1466G>A (p.Arg489Gln) c.1451G>A (p.Arg484Gln) n.1074G>A n.494G>A c.143G>A (p.Arg48Gln) n.554G>A c.494G>A (p.Arg165Gln) c.1463G>A (p.Arg488Gln) c.1439G>A (p.Arg480Gln) c.1448G>A (p.Arg483Gln) c.1424G>A (p.Arg475Gln) c.1436G>A (p.Arg479Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16996053G>A | CA637200 | ATP13A2 | c.1465C>T (p.Arg489Trp) c.1450C>T (p.Arg484Trp) n.1073C>T n.493C>T c.142C>T (p.Arg48Trp) n.553C>T c.493C>T (p.Arg165Trp) c.1462C>T (p.Arg488Trp) c.1438C>T (p.Arg480Trp) c.1447C>T (p.Arg483Trp) c.1423C>T (p.Arg475Trp) c.1435C>T (p.Arg479Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.16996053G>C | CA338252173 | ATP13A2 | c.1465C>G (p.Arg489Gly) c.1450C>G (p.Arg484Gly) n.1073C>G n.493C>G c.142C>G (p.Arg48Gly) n.553C>G c.493C>G (p.Arg165Gly) c.1462C>G (p.Arg488Gly) c.1438C>G (p.Arg480Gly) c.1447C>G (p.Arg483Gly) c.1423C>G (p.Arg475Gly) c.1435C>G (p.Arg479Gly) | dbSNP |
1 | g.16996053G= | CA1156030535 | ATP13A2 | c.1465C= (p.Arg489=) c.1450C= (p.Arg484=) n.1073C= n.493C= c.142C= (p.Arg48=) n.553C= c.493C= (p.Arg165=) c.1462C= (p.Arg488=) c.1438C= (p.Arg480=) c.1447C= (p.Arg483=) c.1423C= (p.Arg475=) c.1435C= (p.Arg479=) | |
1 | g.16996053G>T | CA416094744 | ATP13A2 | c.1465C>A (p.Arg489=) c.1450C>A (p.Arg484=) n.1073C>A n.493C>A c.142C>A (p.Arg48=) n.553C>A c.493C>A (p.Arg165=) c.1462C>A (p.Arg488=) c.1438C>A (p.Arg480=) c.1447C>A (p.Arg483=) c.1423C>A (p.Arg475=) c.1435C>A (p.Arg479=) | gnomAD v4 |
1 | g.16996054C>A | CA416094747 | ATP13A2 | c.1464G>T (p.Leu488=) c.1449G>T (p.Leu483=) n.1072G>T n.492G>T c.141G>T (p.Leu47=) n.552G>T c.492G>T (p.Leu164=) c.1461G>T (p.Leu487=) c.1437G>T (p.Leu479=) c.1446G>T (p.Leu482=) c.1422G>T (p.Leu474=) c.1434G>T (p.Leu478=) | |
1 | g.16996054C>G | CA416094748 | ATP13A2 | c.1464G>C (p.Leu488=) c.1449G>C (p.Leu483=) n.1072G>C n.492G>C c.141G>C (p.Leu47=) n.552G>C c.492G>C (p.Leu164=) c.1461G>C (p.Leu487=) c.1437G>C (p.Leu479=) c.1446G>C (p.Leu482=) c.1422G>C (p.Leu474=) c.1434G>C (p.Leu478=) | |
1 | g.16996054C>T | CA416094749 | ATP13A2 | c.1464G>A (p.Leu488=) c.1449G>A (p.Leu483=) n.1072G>A n.492G>A c.141G>A (p.Leu47=) n.552G>A c.492G>A (p.Leu164=) c.1461G>A (p.Leu487=) c.1437G>A (p.Leu479=) c.1446G>A (p.Leu482=) c.1422G>A (p.Leu474=) c.1434G>A (p.Leu478=) | |
1 | g.16996055A>C | CA338252182 | ATP13A2 | c.1463T>G (p.Leu488Arg) c.1448T>G (p.Leu483Arg) n.1071T>G n.491T>G c.140T>G (p.Leu47Arg) n.551T>G c.491T>G (p.Leu164Arg) c.1460T>G (p.Leu487Arg) c.1436T>G (p.Leu479Arg) c.1445T>G (p.Leu482Arg) c.1421T>G (p.Leu474Arg) c.1433T>G (p.Leu478Arg) | |
1 | g.16996055A>G | CA338252181 | ATP13A2 | c.1463T>C (p.Leu488Pro) c.1448T>C (p.Leu483Pro) n.1071T>C n.491T>C c.140T>C (p.Leu47Pro) n.551T>C c.491T>C (p.Leu164Pro) c.1460T>C (p.Leu487Pro) c.1436T>C (p.Leu479Pro) c.1445T>C (p.Leu482Pro) c.1421T>C (p.Leu474Pro) c.1433T>C (p.Leu478Pro) | |
1 | g.16996055A>T | CA338252178 | ATP13A2 | c.1463T>A (p.Leu488Gln) c.1448T>A (p.Leu483Gln) n.1071T>A n.491T>A c.140T>A (p.Leu47Gln) n.551T>A c.491T>A (p.Leu164Gln) c.1460T>A (p.Leu487Gln) c.1436T>A (p.Leu479Gln) c.1445T>A (p.Leu482Gln) c.1421T>A (p.Leu474Gln) c.1433T>A (p.Leu478Gln) | |
1 | g.16996056G>A | CA416094753 | ATP13A2 | c.1462C>T (p.Leu488=) c.1447C>T (p.Leu483=) n.1070C>T n.490C>T c.139C>T (p.Leu47=) n.550C>T c.490C>T (p.Leu164=) c.1459C>T (p.Leu487=) c.1435C>T (p.Leu479=) c.1444C>T (p.Leu482=) c.1420C>T (p.Leu474=) c.1432C>T (p.Leu478=) | gnomAD v4 |
1 | g.16996056G>C | CA338252184 | ATP13A2 | c.1462C>G (p.Leu488Val) c.1447C>G (p.Leu483Val) n.1070C>G n.490C>G c.139C>G (p.Leu47Val) n.550C>G c.490C>G (p.Leu164Val) c.1459C>G (p.Leu487Val) c.1435C>G (p.Leu479Val) c.1444C>G (p.Leu482Val) c.1420C>G (p.Leu474Val) c.1432C>G (p.Leu478Val) | |
1 | g.16996056G>T | CA338252188 | ATP13A2 | c.1462C>A (p.Leu488Met) c.1447C>A (p.Leu483Met) n.1070C>A n.490C>A c.139C>A (p.Leu47Met) n.550C>A c.490C>A (p.Leu164Met) c.1459C>A (p.Leu487Met) c.1435C>A (p.Leu479Met) c.1444C>A (p.Leu482Met) c.1420C>A (p.Leu474Met) c.1432C>A (p.Leu478Met) | |
1 | g.16996057T>A | CA416094754 | ATP13A2 | c.1461A>T (p.Arg487=) c.1446A>T (p.Arg482=) n.1069A>T n.489A>T c.138A>T (p.Arg46=) n.549A>T c.489A>T (p.Arg163=) c.1458A>T (p.Arg486=) c.1434A>T (p.Arg478=) c.1443A>T (p.Arg481=) c.1419A>T (p.Arg473=) c.1431A>T (p.Arg477=) | |
1 | g.16996057T>C | CA416094756 | ATP13A2 | c.1461A>G (p.Arg487=) c.1446A>G (p.Arg482=) n.1069A>G n.489A>G c.138A>G (p.Arg46=) n.549A>G c.489A>G (p.Arg163=) c.1458A>G (p.Arg486=) c.1434A>G (p.Arg478=) c.1443A>G (p.Arg481=) c.1419A>G (p.Arg473=) c.1431A>G (p.Arg477=) | ClinVar gnomAD v4 |
1 | g.16996057T>G | CA416094755 | ATP13A2 | c.1461A>C (p.Arg487=) c.1446A>C (p.Arg482=) n.1069A>C n.489A>C c.138A>C (p.Arg46=) n.549A>C c.489A>C (p.Arg163=) c.1458A>C (p.Arg486=) c.1434A>C (p.Arg478=) c.1443A>C (p.Arg481=) c.1419A>C (p.Arg473=) c.1431A>C (p.Arg477=) | |
1 | g.16996058C>A | CA338252189 | ATP13A2 | c.1460G>T (p.Arg487Leu) c.1445G>T (p.Arg482Leu) n.1068G>T n.488G>T c.137G>T (p.Arg46Leu) n.548G>T c.488G>T (p.Arg163Leu) c.1457G>T (p.Arg486Leu) c.1433G>T (p.Arg478Leu) c.1442G>T (p.Arg481Leu) c.1418G>T (p.Arg473Leu) c.1430G>T (p.Arg477Leu) | |
1 | g.16996058C= | CA1146736584 | ATP13A2 | c.1460G= (p.Arg487=) c.1445G= (p.Arg482=) n.1068G= n.488G= c.137G= (p.Arg46=) n.548G= c.488G= (p.Arg163=) c.1457G= (p.Arg486=) c.1433G= (p.Arg478=) c.1442G= (p.Arg481=) c.1418G= (p.Arg473=) c.1430G= (p.Arg477=) | |
1 | g.16996058C>G | CA338252190 | ATP13A2 | c.1460G>C (p.Arg487Pro) c.1445G>C (p.Arg482Pro) n.1068G>C n.488G>C c.137G>C (p.Arg46Pro) n.548G>C c.488G>C (p.Arg163Pro) c.1457G>C (p.Arg486Pro) c.1433G>C (p.Arg478Pro) c.1442G>C (p.Arg481Pro) c.1418G>C (p.Arg473Pro) c.1430G>C (p.Arg477Pro) | |
1 | g.16996058C>T | CA637201 | ATP13A2 | c.1460G>A (p.Arg487Gln) c.1445G>A (p.Arg482Gln) n.1068G>A n.488G>A c.137G>A (p.Arg46Gln) n.548G>A c.488G>A (p.Arg163Gln) c.1457G>A (p.Arg486Gln) c.1433G>A (p.Arg478Gln) c.1442G>A (p.Arg481Gln) c.1418G>A (p.Arg473Gln) c.1430G>A (p.Arg477Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16996059G>A | CA338252192 | ATP13A2 | c.1459C>T (p.Arg487Ter) c.1444C>T (p.Arg482Ter) n.1067C>T n.487C>T c.136C>T (p.Arg46Ter) n.547C>T c.487C>T (p.Arg163Ter) c.1456C>T (p.Arg486Ter) c.1432C>T (p.Arg478Ter) c.1441C>T (p.Arg481Ter) c.1417C>T (p.Arg473Ter) c.1429C>T (p.Arg477Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.16996059G>C | CA338252201 | ATP13A2 | c.1459C>G (p.Arg487Gly) c.1444C>G (p.Arg482Gly) n.1067C>G n.487C>G c.136C>G (p.Arg46Gly) n.547C>G c.487C>G (p.Arg163Gly) c.1456C>G (p.Arg486Gly) c.1432C>G (p.Arg478Gly) c.1441C>G (p.Arg481Gly) c.1417C>G (p.Arg473Gly) c.1429C>G (p.Arg477Gly) | |
1 | g.16996059G= | CA1156030555 | ATP13A2 | c.1459C= (p.Arg487=) c.1444C= (p.Arg482=) n.1067C= n.487C= c.136C= (p.Arg46=) n.547C= c.487C= (p.Arg163=) c.1456C= (p.Arg486=) c.1432C= (p.Arg478=) c.1441C= (p.Arg481=) c.1417C= (p.Arg473=) c.1429C= (p.Arg477=) | |
1 | g.16996059G>T | CA416094760 | ATP13A2 | c.1459C>A (p.Arg487=) c.1444C>A (p.Arg482=) n.1067C>A n.487C>A c.136C>A (p.Arg46=) n.547C>A c.487C>A (p.Arg163=) c.1456C>A (p.Arg486=) c.1432C>A (p.Arg478=) c.1441C>A (p.Arg481=) c.1417C>A (p.Arg473=) c.1429C>A (p.Arg477=) | |
1 | g.16996060G>A | CA416094761 | ATP13A2 | c.1458C>T (p.Ser486=) c.1443C>T (p.Ser481=) n.1066C>T n.486C>T c.135C>T (p.Ser45=) n.546C>T c.486C>T (p.Ser162=) c.1455C>T (p.Ser485=) c.1431C>T (p.Ser477=) c.1440C>T (p.Ser480=) c.1416C>T (p.Ser472=) c.1428C>T (p.Ser476=) | COSMIC COSMIC |
1 | g.16996060G>C | CA338252202 | ATP13A2 | c.1458C>G (p.Ser486Arg) c.1443C>G (p.Ser481Arg) n.1066C>G n.486C>G c.135C>G (p.Ser45Arg) n.546C>G c.486C>G (p.Ser162Arg) c.1455C>G (p.Ser485Arg) c.1431C>G (p.Ser477Arg) c.1440C>G (p.Ser480Arg) c.1416C>G (p.Ser472Arg) c.1428C>G (p.Ser476Arg) | |
1 | g.16996060G>T | CA338252203 | ATP13A2 | c.1458C>A (p.Ser486Arg) c.1443C>A (p.Ser481Arg) n.1066C>A n.486C>A c.135C>A (p.Ser45Arg) n.546C>A c.486C>A (p.Ser162Arg) c.1455C>A (p.Ser485Arg) c.1431C>A (p.Ser477Arg) c.1440C>A (p.Ser480Arg) c.1416C>A (p.Ser472Arg) c.1428C>A (p.Ser476Arg) | |
1 | g.16996061C>A | CA338252208 | ATP13A2 | c.1457G>T (p.Ser486Ile) c.1442G>T (p.Ser481Ile) n.1065G>T n.485G>T c.134G>T (p.Ser45Ile) n.545G>T c.485G>T (p.Ser162Ile) c.1454G>T (p.Ser485Ile) c.1430G>T (p.Ser477Ile) c.1439G>T (p.Ser480Ile) c.1415G>T (p.Ser472Ile) c.1427G>T (p.Ser476Ile) | gnomAD v4 |
1 | g.16996061C>G | CA338252210 | ATP13A2 | c.1457G>C (p.Ser486Thr) c.1442G>C (p.Ser481Thr) n.1065G>C n.485G>C c.134G>C (p.Ser45Thr) n.545G>C c.485G>C (p.Ser162Thr) c.1454G>C (p.Ser485Thr) c.1430G>C (p.Ser477Thr) c.1439G>C (p.Ser480Thr) c.1415G>C (p.Ser472Thr) c.1427G>C (p.Ser476Thr) | |
1 | g.16996061C>T | CA338252214 | ATP13A2 | c.1457G>A (p.Ser486Asn) c.1442G>A (p.Ser481Asn) n.1065G>A n.485G>A c.134G>A (p.Ser45Asn) n.545G>A c.485G>A (p.Ser162Asn) c.1454G>A (p.Ser485Asn) c.1430G>A (p.Ser477Asn) c.1439G>A (p.Ser480Asn) c.1415G>A (p.Ser472Asn) c.1427G>A (p.Ser476Asn) | |
1 | g.16996062T>A | CA338252233 | ATP13A2 | c.1456A>T (p.Ser486Cys) c.1441A>T (p.Ser481Cys) n.1064A>T n.484A>T c.133A>T (p.Ser45Cys) n.544A>T c.484A>T (p.Ser162Cys) c.1453A>T (p.Ser485Cys) c.1429A>T (p.Ser477Cys) c.1438A>T (p.Ser480Cys) c.1414A>T (p.Ser472Cys) c.1426A>T (p.Ser476Cys) | |
1 | g.16996062T>C | CA338252220 | ATP13A2 | c.1456A>G (p.Ser486Gly) c.1441A>G (p.Ser481Gly) n.1064A>G n.484A>G c.133A>G (p.Ser45Gly) n.544A>G c.484A>G (p.Ser162Gly) c.1453A>G (p.Ser485Gly) c.1429A>G (p.Ser477Gly) c.1438A>G (p.Ser480Gly) c.1414A>G (p.Ser472Gly) c.1426A>G (p.Ser476Gly) | |
1 | g.16996062T>G | CA338252219 | ATP13A2 | c.1456A>C (p.Ser486Arg) c.1441A>C (p.Ser481Arg) n.1064A>C n.484A>C c.133A>C (p.Ser45Arg) n.544A>C c.484A>C (p.Ser162Arg) c.1453A>C (p.Ser485Arg) c.1429A>C (p.Ser477Arg) c.1438A>C (p.Ser480Arg) c.1414A>C (p.Ser472Arg) c.1426A>C (p.Ser476Arg) | |
1 | g.16996063C>A | CA338252234 | ATP13A2 | c.1455G>T (p.Gln485His) c.1440G>T (p.Gln480His) n.1063G>T n.483G>T c.132G>T (p.Gln44His) n.543G>T c.483G>T (p.Gln161His) c.1452G>T (p.Gln484His) c.1428G>T (p.Gln476His) c.1437G>T (p.Gln479His) c.1413G>T (p.Gln471His) c.1425G>T (p.Gln475His) | |
1 | g.16996063C= | CA1156030564 | ATP13A2 | c.1455G= (p.Gln485=) c.1440G= (p.Gln480=) n.1063G= n.483G= c.132G= (p.Gln44=) n.543G= c.483G= (p.Gln161=) c.1452G= (p.Gln484=) c.1428G= (p.Gln476=) c.1437G= (p.Gln479=) c.1413G= (p.Gln471=) c.1425G= (p.Gln475=) | |
1 | g.16996063C>G | CA338252240 | ATP13A2 | c.1455G>C (p.Gln485His) c.1440G>C (p.Gln480His) n.1063G>C n.483G>C c.132G>C (p.Gln44His) n.543G>C c.483G>C (p.Gln161His) c.1452G>C (p.Gln484His) c.1428G>C (p.Gln476His) c.1437G>C (p.Gln479His) c.1413G>C (p.Gln471His) c.1425G>C (p.Gln475His) | dbSNP gnomAD v2 |
1 | g.16996063C>T | CA416094767 | ATP13A2 | c.1455G>A (p.Gln485=) c.1440G>A (p.Gln480=) n.1063G>A n.483G>A c.132G>A (p.Gln44=) n.543G>A c.483G>A (p.Gln161=) c.1452G>A (p.Gln484=) c.1428G>A (p.Gln476=) c.1437G>A (p.Gln479=) c.1413G>A (p.Gln471=) c.1425G>A (p.Gln475=) | |
1 | g.16996064T>A | CA338252242 | ATP13A2 | c.1454A>T (p.Gln485Leu) c.1439A>T (p.Gln480Leu) n.1062A>T n.482A>T c.131A>T (p.Gln44Leu) n.542A>T c.482A>T (p.Gln161Leu) c.1451A>T (p.Gln484Leu) c.1427A>T (p.Gln476Leu) c.1436A>T (p.Gln479Leu) c.1412A>T (p.Gln471Leu) c.1424A>T (p.Gln475Leu) | gnomAD v4 |
1 | g.16996064T>C | CA338252248 | ATP13A2 | c.1454A>G (p.Gln485Arg) c.1439A>G (p.Gln480Arg) n.1062A>G n.482A>G c.131A>G (p.Gln44Arg) n.542A>G c.482A>G (p.Gln161Arg) c.1451A>G (p.Gln484Arg) c.1427A>G (p.Gln476Arg) c.1436A>G (p.Gln479Arg) c.1412A>G (p.Gln471Arg) c.1424A>G (p.Gln475Arg) | |
1 | g.16996064T>G | CA338252245 | ATP13A2 | c.1454A>C (p.Gln485Pro) c.1439A>C (p.Gln480Pro) n.1062A>C n.482A>C c.131A>C (p.Gln44Pro) n.542A>C c.482A>C (p.Gln161Pro) c.1451A>C (p.Gln484Pro) c.1427A>C (p.Gln476Pro) c.1436A>C (p.Gln479Pro) c.1412A>C (p.Gln471Pro) c.1424A>C (p.Gln475Pro) | |
1 | g.16996065G>A | CA338252249 | ATP13A2 | c.1453C>T (p.Gln485Ter) c.1438C>T (p.Gln480Ter) n.1061C>T n.481C>T c.130C>T (p.Gln44Ter) n.541C>T c.481C>T (p.Gln161Ter) c.1450C>T (p.Gln484Ter) c.1426C>T (p.Gln476Ter) c.1435C>T (p.Gln479Ter) c.1411C>T (p.Gln471Ter) c.1423C>T (p.Gln475Ter) | |
1 | g.16996065G>C | CA338252250 | ATP13A2 | c.1453C>G (p.Gln485Glu) c.1438C>G (p.Gln480Glu) n.1061C>G n.481C>G c.130C>G (p.Gln44Glu) n.541C>G c.481C>G (p.Gln161Glu) c.1450C>G (p.Gln484Glu) c.1426C>G (p.Gln476Glu) c.1435C>G (p.Gln479Glu) c.1411C>G (p.Gln471Glu) c.1423C>G (p.Gln475Glu) | |
1 | g.16996065G>T | CA338252251 | ATP13A2 | c.1453C>A (p.Gln485Lys) c.1438C>A (p.Gln480Lys) n.1061C>A n.481C>A c.130C>A (p.Gln44Lys) n.541C>A c.481C>A (p.Gln161Lys) c.1450C>A (p.Gln484Lys) c.1426C>A (p.Gln476Lys) c.1435C>A (p.Gln479Lys) c.1411C>A (p.Gln471Lys) c.1423C>A (p.Gln475Lys) | |
1 | g.16996066G>A | CA416094772 | ATP13A2 | c.1452C>T (p.Ala484=) c.1437C>T (p.Ala479=) n.1060C>T n.480C>T c.129C>T (p.Ala43=) n.540C>T c.480C>T (p.Ala160=) c.1449C>T (p.Ala483=) c.1425C>T (p.Ala475=) c.1434C>T (p.Ala478=) c.1410C>T (p.Ala470=) c.1422C>T (p.Ala474=) | |
1 | g.16996066G>C | CA416094773 | ATP13A2 | c.1452C>G (p.Ala484=) c.1437C>G (p.Ala479=) n.1060C>G n.480C>G c.129C>G (p.Ala43=) n.540C>G c.480C>G (p.Ala160=) c.1449C>G (p.Ala483=) c.1425C>G (p.Ala475=) c.1434C>G (p.Ala478=) c.1410C>G (p.Ala470=) c.1422C>G (p.Ala474=) | |
1 | g.16996066G>T | CA416094775 | ATP13A2 | c.1452C>A (p.Ala484=) c.1437C>A (p.Ala479=) n.1060C>A n.480C>A c.129C>A (p.Ala43=) n.540C>A c.480C>A (p.Ala160=) c.1449C>A (p.Ala483=) c.1425C>A (p.Ala475=) c.1434C>A (p.Ala478=) c.1410C>A (p.Ala470=) c.1422C>A (p.Ala474=) | |
1 | g.16996067G>A | CA338252253 | ATP13A2 | c.1451C>T (p.Ala484Val) c.1436C>T (p.Ala479Val) n.1059C>T n.479C>T c.128C>T (p.Ala43Val) n.539C>T c.479C>T (p.Ala160Val) c.1448C>T (p.Ala483Val) c.1424C>T (p.Ala475Val) c.1433C>T (p.Ala478Val) c.1409C>T (p.Ala470Val) c.1421C>T (p.Ala474Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16996067G>C | CA338252256 | ATP13A2 | c.1451C>G (p.Ala484Gly) c.1436C>G (p.Ala479Gly) n.1059C>G n.479C>G c.128C>G (p.Ala43Gly) n.539C>G c.479C>G (p.Ala160Gly) c.1448C>G (p.Ala483Gly) c.1424C>G (p.Ala475Gly) c.1433C>G (p.Ala478Gly) c.1409C>G (p.Ala470Gly) c.1421C>G (p.Ala474Gly) | |
1 | g.16996067G= | CA1156030568 | ATP13A2 | c.1451C= (p.Ala484=) c.1436C= (p.Ala479=) n.1059C= n.479C= c.128C= (p.Ala43=) n.539C= c.479C= (p.Ala160=) c.1448C= (p.Ala483=) c.1424C= (p.Ala475=) c.1433C= (p.Ala478=) c.1409C= (p.Ala470=) c.1421C= (p.Ala474=) | |
1 | g.16996067G>T | CA338252258 | ATP13A2 | c.1451C>A (p.Ala484Asp) c.1436C>A (p.Ala479Asp) n.1059C>A n.479C>A c.128C>A (p.Ala43Asp) n.539C>A c.479C>A (p.Ala160Asp) c.1448C>A (p.Ala483Asp) c.1424C>A (p.Ala475Asp) c.1433C>A (p.Ala478Asp) c.1409C>A (p.Ala470Asp) c.1421C>A (p.Ala474Asp) | |
1 | g.16996068C>A | CA338252264 | ATP13A2 | c.1450G>T (p.Ala484Ser) c.1435G>T (p.Ala479Ser) n.1058G>T n.478G>T c.127G>T (p.Ala43Ser) n.538G>T c.478G>T (p.Ala160Ser) c.1447G>T (p.Ala483Ser) c.1423G>T (p.Ala475Ser) c.1432G>T (p.Ala478Ser) c.1408G>T (p.Ala470Ser) c.1420G>T (p.Ala474Ser) | gnomAD v4 |
1 | g.16996068C= | CA1156030573 | ATP13A2 | c.1450G= (p.Ala484=) c.1435G= (p.Ala479=) n.1058G= n.478G= c.127G= (p.Ala43=) n.538G= c.478G= (p.Ala160=) c.1447G= (p.Ala483=) c.1423G= (p.Ala475=) c.1432G= (p.Ala478=) c.1408G= (p.Ala470=) c.1420G= (p.Ala474=) | |
1 | g.16996068C>G | CA338252267 | ATP13A2 | c.1450G>C (p.Ala484Pro) c.1435G>C (p.Ala479Pro) n.1058G>C n.478G>C c.127G>C (p.Ala43Pro) n.538G>C c.478G>C (p.Ala160Pro) c.1447G>C (p.Ala483Pro) c.1423G>C (p.Ala475Pro) c.1432G>C (p.Ala478Pro) c.1408G>C (p.Ala470Pro) c.1420G>C (p.Ala474Pro) | dbSNP |
1 | g.16996068C>T | CA637202 | ATP13A2 | c.1450G>A (p.Ala484Thr) c.1435G>A (p.Ala479Thr) n.1058G>A n.478G>A c.127G>A (p.Ala43Thr) n.538G>A c.478G>A (p.Ala160Thr) c.1447G>A (p.Ala483Thr) c.1423G>A (p.Ala475Thr) c.1432G>A (p.Ala478Thr) c.1408G>A (p.Ala470Thr) c.1420G>A (p.Ala474Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.16996069G>A | CA637203 | ATP13A2 | c.1449C>T (p.Tyr483=) c.1434C>T (p.Tyr478=) n.1057C>T n.477C>T c.126C>T (p.Tyr42=) n.537C>T c.477C>T (p.Tyr159=) c.1446C>T (p.Tyr482=) c.1422C>T (p.Tyr474=) c.1431C>T (p.Tyr477=) c.1407C>T (p.Tyr469=) c.1419C>T (p.Tyr473=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.16996069G>C | CA338252274 | ATP13A2 | c.1449C>G (p.Tyr483Ter) c.1434C>G (p.Tyr478Ter) n.1057C>G n.477C>G c.126C>G (p.Tyr42Ter) n.537C>G c.477C>G (p.Tyr159Ter) c.1446C>G (p.Tyr482Ter) c.1422C>G (p.Tyr474Ter) c.1431C>G (p.Tyr477Ter) c.1407C>G (p.Tyr469Ter) c.1419C>G (p.Tyr473Ter) | |
1 | g.16996069G= | CA1156030580 | ATP13A2 | c.1449C= (p.Tyr483=) c.1434C= (p.Tyr478=) n.1057C= n.477C= c.126C= (p.Tyr42=) n.537C= c.477C= (p.Tyr159=) c.1446C= (p.Tyr482=) c.1422C= (p.Tyr474=) c.1431C= (p.Tyr477=) c.1407C= (p.Tyr469=) c.1419C= (p.Tyr473=) | |
1 | g.16996069G>T | CA338252278 | ATP13A2 | c.1449C>A (p.Tyr483Ter) c.1434C>A (p.Tyr478Ter) n.1057C>A n.477C>A c.126C>A (p.Tyr42Ter) n.537C>A c.477C>A (p.Tyr159Ter) c.1446C>A (p.Tyr482Ter) c.1422C>A (p.Tyr474Ter) c.1431C>A (p.Tyr477Ter) c.1407C>A (p.Tyr469Ter) c.1419C>A (p.Tyr473Ter) | |
1 | g.16996070T>A | CA338252307 | ATP13A2 | c.1448A>T (p.Tyr483Phe) c.1433A>T (p.Tyr478Phe) n.1056A>T n.476A>T c.125A>T (p.Tyr42Phe) n.536A>T c.476A>T (p.Tyr159Phe) c.1445A>T (p.Tyr482Phe) c.1421A>T (p.Tyr474Phe) c.1430A>T (p.Tyr477Phe) c.1406A>T (p.Tyr469Phe) c.1418A>T (p.Tyr473Phe) | |
1 | g.16996070T>C | CA338252282 | ATP13A2 | c.1448A>G (p.Tyr483Cys) c.1433A>G (p.Tyr478Cys) n.1056A>G n.476A>G c.125A>G (p.Tyr42Cys) n.536A>G c.476A>G (p.Tyr159Cys) c.1445A>G (p.Tyr482Cys) c.1421A>G (p.Tyr474Cys) c.1430A>G (p.Tyr477Cys) c.1406A>G (p.Tyr469Cys) c.1418A>G (p.Tyr473Cys) | |
1 | g.16996070T>G | CA338252294 | ATP13A2 | c.1448A>C (p.Tyr483Ser) c.1433A>C (p.Tyr478Ser) n.1056A>C n.476A>C c.125A>C (p.Tyr42Ser) n.536A>C c.476A>C (p.Tyr159Ser) c.1445A>C (p.Tyr482Ser) c.1421A>C (p.Tyr474Ser) c.1430A>C (p.Tyr477Ser) c.1406A>C (p.Tyr469Ser) c.1418A>C (p.Tyr473Ser) | |
1 | g.16996071A>C | CA338252310 | ATP13A2 | c.1447T>G (p.Tyr483Asp) c.1432T>G (p.Tyr478Asp) n.1055T>G n.475T>G c.124T>G (p.Tyr42Asp) n.535T>G c.475T>G (p.Tyr159Asp) c.1444T>G (p.Tyr482Asp) c.1420T>G (p.Tyr474Asp) c.1429T>G (p.Tyr477Asp) c.1405T>G (p.Tyr469Asp) c.1417T>G (p.Tyr473Asp) | |
1 | g.16996071A>G | CA338252321 | ATP13A2 | c.1447T>C (p.Tyr483His) c.1432T>C (p.Tyr478His) n.1055T>C n.475T>C c.124T>C (p.Tyr42His) n.535T>C c.475T>C (p.Tyr159His) c.1444T>C (p.Tyr482His) c.1420T>C (p.Tyr474His) c.1429T>C (p.Tyr477His) c.1405T>C (p.Tyr469His) c.1417T>C (p.Tyr473His) | gnomAD v4 |
1 | g.16996071A>T | CA338252323 | ATP13A2 | c.1447T>A (p.Tyr483Asn) c.1432T>A (p.Tyr478Asn) n.1055T>A n.475T>A c.124T>A (p.Tyr42Asn) n.535T>A c.475T>A (p.Tyr159Asn) c.1444T>A (p.Tyr482Asn) c.1420T>A (p.Tyr474Asn) c.1429T>A (p.Tyr477Asn) c.1405T>A (p.Tyr469Asn) c.1417T>A (p.Tyr473Asn) | |
1 | g.16996072G>A | CA416094781 | ATP13A2 | c.1446C>T (p.Leu482=) c.1431C>T (p.Leu477=) n.1054C>T n.474C>T c.123C>T (p.Leu41=) n.534C>T c.474C>T (p.Leu158=) c.1443C>T (p.Leu481=) c.1419C>T (p.Leu473=) c.1428C>T (p.Leu476=) c.1404C>T (p.Leu468=) c.1416C>T (p.Leu472=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16996072G>C | CA416094783 | ATP13A2 | c.1446C>G (p.Leu482=) c.1431C>G (p.Leu477=) n.1054C>G n.474C>G c.123C>G (p.Leu41=) n.534C>G c.474C>G (p.Leu158=) c.1443C>G (p.Leu481=) c.1419C>G (p.Leu473=) c.1428C>G (p.Leu476=) c.1404C>G (p.Leu468=) c.1416C>G (p.Leu472=) | gnomAD v4 |
1 | g.16996072G= | CA1156030589 | ATP13A2 | c.1446C= (p.Leu482=) c.1431C= (p.Leu477=) n.1054C= n.474C= c.123C= (p.Leu41=) n.534C= c.474C= (p.Leu158=) c.1443C= (p.Leu481=) c.1419C= (p.Leu473=) c.1428C= (p.Leu476=) c.1404C= (p.Leu468=) c.1416C= (p.Leu472=) | |
1 | g.16996072G>T | CA416094785 | ATP13A2 | c.1446C>A (p.Leu482=) c.1431C>A (p.Leu477=) n.1054C>A n.474C>A c.123C>A (p.Leu41=) n.534C>A c.474C>A (p.Leu158=) c.1443C>A (p.Leu481=) c.1419C>A (p.Leu473=) c.1428C>A (p.Leu476=) c.1404C>A (p.Leu468=) c.1416C>A (p.Leu472=) | COSMIC COSMIC |
1 | g.16996073A>C | CA338252328 | ATP13A2 | c.1445T>G (p.Leu482Arg) c.1430T>G (p.Leu477Arg) n.1053T>G n.473T>G c.122T>G (p.Leu41Arg) n.533T>G c.473T>G (p.Leu158Arg) c.1442T>G (p.Leu481Arg) c.1418T>G (p.Leu473Arg) c.1427T>G (p.Leu476Arg) c.1403T>G (p.Leu468Arg) c.1415T>G (p.Leu472Arg) | |
1 | g.16996073A>G | CA338252332 | ATP13A2 | c.1445T>C (p.Leu482Pro) c.1430T>C (p.Leu477Pro) n.1053T>C n.473T>C c.122T>C (p.Leu41Pro) n.533T>C c.473T>C (p.Leu158Pro) c.1442T>C (p.Leu481Pro) c.1418T>C (p.Leu473Pro) c.1427T>C (p.Leu476Pro) c.1403T>C (p.Leu468Pro) c.1415T>C (p.Leu472Pro) | dbSNP |
1 | g.16996073A>T | CA338252346 | ATP13A2 | c.1445T>A (p.Leu482His) c.1430T>A (p.Leu477His) n.1053T>A n.473T>A c.122T>A (p.Leu41His) n.533T>A c.473T>A (p.Leu158His) c.1442T>A (p.Leu481His) c.1418T>A (p.Leu473His) c.1427T>A (p.Leu476His) c.1403T>A (p.Leu468His) c.1415T>A (p.Leu472His) | |
1 | g.16996074G>A | CA338252350 | ATP13A2 | c.1444C>T (p.Leu482Phe) c.1429C>T (p.Leu477Phe) n.1052C>T n.472C>T c.121C>T (p.Leu41Phe) n.532C>T c.472C>T (p.Leu158Phe) c.1441C>T (p.Leu481Phe) c.1417C>T (p.Leu473Phe) c.1426C>T (p.Leu476Phe) c.1402C>T (p.Leu468Phe) c.1414C>T (p.Leu472Phe) | gnomAD v4 |
1 | g.16996074G>C | CA338252352 | ATP13A2 | c.1444C>G (p.Leu482Val) c.1429C>G (p.Leu477Val) n.1052C>G n.472C>G c.121C>G (p.Leu41Val) n.532C>G c.472C>G (p.Leu158Val) c.1441C>G (p.Leu481Val) c.1417C>G (p.Leu473Val) c.1426C>G (p.Leu476Val) c.1402C>G (p.Leu468Val) c.1414C>G (p.Leu472Val) | |
1 | g.16996074G>T | CA338252353 | ATP13A2 | c.1444C>A (p.Leu482Ile) c.1429C>A (p.Leu477Ile) n.1052C>A n.472C>A c.121C>A (p.Leu41Ile) n.532C>A c.472C>A (p.Leu158Ile) c.1441C>A (p.Leu481Ile) c.1417C>A (p.Leu473Ile) c.1426C>A (p.Leu476Ile) c.1402C>A (p.Leu468Ile) c.1414C>A (p.Leu472Ile) | gnomAD v4 |
1 | g.16996075C>A | CA637204 | ATP13A2 | c.1443G>T (p.Thr481=) c.1428G>T (p.Thr476=) n.1051G>T n.471G>T c.120G>T (p.Thr40=) n.531G>T c.471G>T (p.Thr157=) c.1440G>T (p.Thr480=) c.1416G>T (p.Thr472=) c.1425G>T (p.Thr475=) c.1401G>T (p.Thr467=) c.1413G>T (p.Thr471=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16996075C= | CA1141933928 | ATP13A2 | c.1443G= (p.Thr481=) c.1428G= (p.Thr476=) n.1051G= n.471G= c.120G= (p.Thr40=) n.531G= c.471G= (p.Thr157=) c.1440G= (p.Thr480=) c.1416G= (p.Thr472=) c.1425G= (p.Thr475=) c.1401G= (p.Thr467=) c.1413G= (p.Thr471=) | |
1 | g.16996075C>G | CA416094793 | ATP13A2 | c.1443G>C (p.Thr481=) c.1428G>C (p.Thr476=) n.1051G>C n.471G>C c.120G>C (p.Thr40=) n.531G>C c.471G>C (p.Thr157=) c.1440G>C (p.Thr480=) c.1416G>C (p.Thr472=) c.1425G>C (p.Thr475=) c.1401G>C (p.Thr467=) c.1413G>C (p.Thr471=) | gnomAD v4 |
1 | g.16996075C>T | CA637205 | ATP13A2 | c.1443G>A (p.Thr481=) c.1428G>A (p.Thr476=) n.1051G>A n.471G>A c.120G>A (p.Thr40=) n.531G>A c.471G>A (p.Thr157=) c.1440G>A (p.Thr480=) c.1416G>A (p.Thr472=) c.1425G>A (p.Thr475=) c.1401G>A (p.Thr467=) c.1413G>A (p.Thr471=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16996076G>A | CA637206 | ATP13A2 | c.1442C>T (p.Thr481Met) c.1427C>T (p.Thr476Met) n.1050C>T n.470C>T c.119C>T (p.Thr40Met) n.530C>T c.470C>T (p.Thr157Met) c.1439C>T (p.Thr480Met) c.1415C>T (p.Thr472Met) c.1424C>T (p.Thr475Met) c.1400C>T (p.Thr467Met) c.1412C>T (p.Thr471Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16996076G>C | CA338252359 | ATP13A2 | c.1442C>G (p.Thr481Arg) c.1427C>G (p.Thr476Arg) n.1050C>G n.470C>G c.119C>G (p.Thr40Arg) n.530C>G c.470C>G (p.Thr157Arg) c.1439C>G (p.Thr480Arg) c.1415C>G (p.Thr472Arg) c.1424C>G (p.Thr475Arg) c.1400C>G (p.Thr467Arg) c.1412C>G (p.Thr471Arg) | |
1 | g.16996076G= | CA1156030595 | ATP13A2 | c.1442C= (p.Thr481=) c.1427C= (p.Thr476=) n.1050C= n.470C= c.119C= (p.Thr40=) n.530C= c.470C= (p.Thr157=) c.1439C= (p.Thr480=) c.1415C= (p.Thr472=) c.1424C= (p.Thr475=) c.1400C= (p.Thr467=) c.1412C= (p.Thr471=) | |
1 | g.16996076G>T | CA338252357 | ATP13A2 | c.1442C>A (p.Thr481Lys) c.1427C>A (p.Thr476Lys) n.1050C>A n.470C>A c.119C>A (p.Thr40Lys) n.530C>A c.470C>A (p.Thr157Lys) c.1439C>A (p.Thr480Lys) c.1415C>A (p.Thr472Lys) c.1424C>A (p.Thr475Lys) c.1400C>A (p.Thr467Lys) c.1412C>A (p.Thr471Lys) | |
1 | g.16996077T>A | CA338252368 | ATP13A2 | c.1441A>T (p.Thr481Ser) c.1426A>T (p.Thr476Ser) n.1049A>T n.469A>T c.118A>T (p.Thr40Ser) n.529A>T c.469A>T (p.Thr157Ser) c.1438A>T (p.Thr480Ser) c.1414A>T (p.Thr472Ser) c.1423A>T (p.Thr475Ser) c.1399A>T (p.Thr467Ser) c.1411A>T (p.Thr471Ser) | |
1 | g.16996077T>C | CA338252370 | ATP13A2 | c.1441A>G (p.Thr481Ala) c.1426A>G (p.Thr476Ala) n.1049A>G n.469A>G c.118A>G (p.Thr40Ala) n.529A>G c.469A>G (p.Thr157Ala) c.1438A>G (p.Thr480Ala) c.1414A>G (p.Thr472Ala) c.1423A>G (p.Thr475Ala) c.1399A>G (p.Thr467Ala) c.1411A>G (p.Thr471Ala) | |
1 | g.16996077T>G | CA338252371 | ATP13A2 | c.1441A>C (p.Thr481Pro) c.1426A>C (p.Thr476Pro) n.1049A>C n.469A>C c.118A>C (p.Thr40Pro) n.529A>C c.469A>C (p.Thr157Pro) c.1438A>C (p.Thr480Pro) c.1414A>C (p.Thr472Pro) c.1423A>C (p.Thr475Pro) c.1399A>C (p.Thr467Pro) c.1411A>C (p.Thr471Pro) | |
1 | g.16996078G>A | CA416094796 | ATP13A2 | c.1440C>T (p.Cys480=) c.1425C>T (p.Cys475=) n.1048C>T n.468C>T c.117C>T (p.Cys39=) n.528C>T c.468C>T (p.Cys156=) c.1437C>T (p.Cys479=) c.1413C>T (p.Cys471=) c.1422C>T (p.Cys474=) c.1398C>T (p.Cys466=) c.1410C>T (p.Cys470=) | |
1 | g.16996078G>C | CA338252372 | ATP13A2 | c.1440C>G (p.Cys480Trp) c.1425C>G (p.Cys475Trp) n.1048C>G n.468C>G c.117C>G (p.Cys39Trp) n.528C>G c.468C>G (p.Cys156Trp) c.1437C>G (p.Cys479Trp) c.1413C>G (p.Cys471Trp) c.1422C>G (p.Cys474Trp) c.1398C>G (p.Cys466Trp) c.1410C>G (p.Cys470Trp) | |
1 | g.16996078G>T | CA338252374 | ATP13A2 | c.1440C>A (p.Cys480Ter) c.1425C>A (p.Cys475Ter) n.1048C>A n.468C>A c.117C>A (p.Cys39Ter) n.528C>A c.468C>A (p.Cys156Ter) c.1437C>A (p.Cys479Ter) c.1413C>A (p.Cys471Ter) c.1422C>A (p.Cys474Ter) c.1398C>A (p.Cys466Ter) c.1410C>A (p.Cys470Ter) | |
1 | g.16996078_16996080delinsGCA | CA1156030599 | ATP13A2 | c.1438_1440delinsTGC (p.Cys480=) c.1423_1425delinsTGC (p.Cys475=) n.1046_1048delinsTGC n.466_468delinsTGC c.115_117delinsTGC (p.Cys39=) n.526_528delinsTGC c.466_468delinsTGC (p.Cys156=) c.1435_1437delinsTGC (p.Cys479=) c.1411_1413delinsTGC (p.Cys471=) c.1420_1422delinsTGC (p.Cys474=) c.1396_1398delinsTGC (p.Cys466=) c.1408_1410delinsTGC (p.Cys470=) | |
1 | g.16996079C>A | CA338252376 | ATP13A2 | c.1439G>T (p.Cys480Phe) c.1424G>T (p.Cys475Phe) n.1047G>T n.467G>T c.116G>T (p.Cys39Phe) n.527G>T c.467G>T (p.Cys156Phe) c.1436G>T (p.Cys479Phe) c.1412G>T (p.Cys471Phe) c.1421G>T (p.Cys474Phe) c.1397G>T (p.Cys466Phe) c.1409G>T (p.Cys470Phe) | |
1 | g.16996079C= | CA1145393409 | ATP13A2 | c.1439G= (p.Cys480=) c.1424G= (p.Cys475=) n.1047G= n.467G= c.116G= (p.Cys39=) n.527G= c.467G= (p.Cys156=) c.1436G= (p.Cys479=) c.1412G= (p.Cys471=) c.1421G= (p.Cys474=) c.1397G= (p.Cys466=) c.1409G= (p.Cys470=) | |
1 | g.16996079C>G | CA338252379 | ATP13A2 | c.1439G>C (p.Cys480Ser) c.1424G>C (p.Cys475Ser) n.1047G>C n.467G>C c.116G>C (p.Cys39Ser) n.527G>C c.467G>C (p.Cys156Ser) c.1436G>C (p.Cys479Ser) c.1412G>C (p.Cys471Ser) c.1421G>C (p.Cys474Ser) c.1397G>C (p.Cys466Ser) c.1409G>C (p.Cys470Ser) | |
1 | g.16996079C>T | CA637207 | ATP13A2 | c.1439G>A (p.Cys480Tyr) c.1424G>A (p.Cys475Tyr) n.1047G>A n.467G>A c.116G>A (p.Cys39Tyr) n.527G>A c.467G>A (p.Cys156Tyr) c.1436G>A (p.Cys479Tyr) c.1412G>A (p.Cys471Tyr) c.1421G>A (p.Cys474Tyr) c.1397G>A (p.Cys466Tyr) c.1409G>A (p.Cys470Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16996083_16996084del | CA1156030601 | ATP13A2 | c.1438_1439del (p.Cys480HisfsTer?) c.1423_1424del (p.Cys475HisfsTer?) n.1046_1047del n.466_467del c.115_116del (p.Cys39HisfsTer?) n.526_527del c.466_467del (p.Cys156HisfsTer?) c.1435_1436del (p.Cys479HisfsTer?) c.1411_1412del (p.Cys471HisfsTer?) c.1420_1421del (p.Cys474HisfsTer?) c.1396_1397del (p.Cys466HisfsTer?) c.1408_1409del (p.Cys470HisfsTer?) | dbSNP gnomAD v4 |
1 | g.16996081_16996084del | CA2580611135 | ATP13A2 | c.1436_1439del (p.Val479AlafsTer?) c.1421_1424del (p.Val474AlafsTer?) n.1044_1047del n.464_467del c.113_116del (p.Val38AlafsTer?) n.524_527del c.464_467del (p.Val155AlafsTer?) c.1433_1436del (p.Val478AlafsTer?) c.1409_1412del (p.Val470AlafsTer?) c.1418_1421del (p.Val473AlafsTer?) c.1394_1397del (p.Val465AlafsTer?) c.1436_1439del (p.Val479AlafsTer30) c.1406_1409del (p.Val469AlafsTer30) | ClinVar dbSNP |
1 | g.16996080A>C | CA338252385 | ATP13A2 | c.1438T>G (p.Cys480Gly) c.1423T>G (p.Cys475Gly) n.1046T>G n.466T>G c.115T>G (p.Cys39Gly) n.526T>G c.466T>G (p.Cys156Gly) c.1435T>G (p.Cys479Gly) c.1411T>G (p.Cys471Gly) c.1420T>G (p.Cys474Gly) c.1396T>G (p.Cys466Gly) c.1408T>G (p.Cys470Gly) | |
1 | g.16996080A>G | CA338252388 | ATP13A2 | c.1438T>C (p.Cys480Arg) c.1423T>C (p.Cys475Arg) n.1046T>C n.466T>C c.115T>C (p.Cys39Arg) n.526T>C c.466T>C (p.Cys156Arg) c.1435T>C (p.Cys479Arg) c.1411T>C (p.Cys471Arg) c.1420T>C (p.Cys474Arg) c.1396T>C (p.Cys466Arg) c.1408T>C (p.Cys470Arg) | |
1 | g.16996080A>T | CA338252394 | ATP13A2 | c.1438T>A (p.Cys480Ser) c.1423T>A (p.Cys475Ser) n.1046T>A n.466T>A c.115T>A (p.Cys39Ser) n.526T>A c.466T>A (p.Cys156Ser) c.1435T>A (p.Cys479Ser) c.1411T>A (p.Cys471Ser) c.1420T>A (p.Cys474Ser) c.1396T>A (p.Cys466Ser) c.1408T>A (p.Cys470Ser) | |
1 | g.16996081C>A | CA416094797 | ATP13A2 | c.1437G>T (p.Val479=) c.1422G>T (p.Val474=) n.1045G>T n.465G>T c.114G>T (p.Val38=) n.525G>T c.465G>T (p.Val155=) c.1434G>T (p.Val478=) c.1410G>T (p.Val470=) c.1419G>T (p.Val473=) c.1395G>T (p.Val465=) c.1407G>T (p.Val469=) | |
1 | g.16996081C= | CA1143547633 | ATP13A2 | c.1437G= (p.Val479=) c.1422G= (p.Val474=) n.1045G= n.465G= c.114G= (p.Val38=) n.525G= c.465G= (p.Val155=) c.1434G= (p.Val478=) c.1410G= (p.Val470=) c.1419G= (p.Val473=) c.1395G= (p.Val465=) c.1407G= (p.Val469=) | |
1 | g.16996081C>G | CA416094798 | ATP13A2 | c.1437G>C (p.Val479=) c.1422G>C (p.Val474=) n.1045G>C n.465G>C c.114G>C (p.Val38=) n.525G>C c.465G>C (p.Val155=) c.1434G>C (p.Val478=) c.1410G>C (p.Val470=) c.1419G>C (p.Val473=) c.1395G>C (p.Val465=) c.1407G>C (p.Val469=) | |
1 | g.16996081C>T | CA637208 | ATP13A2 | c.1437G>A (p.Val479=) c.1422G>A (p.Val474=) n.1045G>A n.465G>A c.114G>A (p.Val38=) n.525G>A c.465G>A (p.Val155=) c.1434G>A (p.Val478=) c.1410G>A (p.Val470=) c.1419G>A (p.Val473=) c.1395G>A (p.Val465=) c.1407G>A (p.Val469=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16996082A= | CA1143497917 | ATP13A2 | c.1436T= (p.Val479=) c.1421T= (p.Val474=) n.1044T= n.464T= c.113T= (p.Val38=) n.524T= c.464T= (p.Val155=) c.1433T= (p.Val478=) c.1409T= (p.Val470=) c.1418T= (p.Val473=) c.1394T= (p.Val465=) c.1406T= (p.Val469=) | |
1 | g.16996082A>C | CA338252415 | ATP13A2 | c.1436T>G (p.Val479Gly) c.1421T>G (p.Val474Gly) n.1044T>G n.464T>G c.113T>G (p.Val38Gly) n.524T>G c.464T>G (p.Val155Gly) c.1433T>G (p.Val478Gly) c.1409T>G (p.Val470Gly) c.1418T>G (p.Val473Gly) c.1394T>G (p.Val465Gly) c.1406T>G (p.Val469Gly) | |
1 | g.16996082A>G | CA637209 | ATP13A2 | c.1436T>C (p.Val479Ala) c.1421T>C (p.Val474Ala) n.1044T>C n.464T>C c.113T>C (p.Val38Ala) n.524T>C c.464T>C (p.Val155Ala) c.1433T>C (p.Val478Ala) c.1409T>C (p.Val470Ala) c.1418T>C (p.Val473Ala) c.1394T>C (p.Val465Ala) c.1406T>C (p.Val469Ala) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.16996082A>T | CA338252410 | ATP13A2 | c.1436T>A (p.Val479Glu) c.1421T>A (p.Val474Glu) n.1044T>A n.464T>A c.113T>A (p.Val38Glu) n.524T>A c.464T>A (p.Val155Glu) c.1433T>A (p.Val478Glu) c.1409T>A (p.Val470Glu) c.1418T>A (p.Val473Glu) c.1394T>A (p.Val465Glu) c.1406T>A (p.Val469Glu) | |
1 | g.16996083C>A | CA338252418 | ATP13A2 | c.1435G>T (p.Val479Leu) c.1420G>T (p.Val474Leu) n.1043G>T n.463G>T c.112G>T (p.Val38Leu) n.523G>T c.463G>T (p.Val155Leu) c.1432G>T (p.Val478Leu) c.1408G>T (p.Val470Leu) c.1417G>T (p.Val473Leu) c.1393G>T (p.Val465Leu) c.1405G>T (p.Val469Leu) | |
1 | g.16996083C= | CA1156030608 | ATP13A2 | c.1435G= (p.Val479=) c.1420G= (p.Val474=) n.1043G= n.463G= c.112G= (p.Val38=) n.523G= c.463G= (p.Val155=) c.1432G= (p.Val478=) c.1408G= (p.Val470=) c.1417G= (p.Val473=) c.1393G= (p.Val465=) c.1405G= (p.Val469=) | |
1 | g.16996083C>G | CA338252421 | ATP13A2 | c.1435G>C (p.Val479Leu) c.1420G>C (p.Val474Leu) n.1043G>C n.463G>C c.112G>C (p.Val38Leu) n.523G>C c.463G>C (p.Val155Leu) c.1432G>C (p.Val478Leu) c.1408G>C (p.Val470Leu) c.1417G>C (p.Val473Leu) c.1393G>C (p.Val465Leu) c.1405G>C (p.Val469Leu) | |
1 | g.16996083C>T | CA338252426 | ATP13A2 | c.1435G>A (p.Val479Met) c.1420G>A (p.Val474Met) n.1043G>A n.463G>A c.112G>A (p.Val38Met) n.523G>A c.463G>A (p.Val155Met) c.1432G>A (p.Val478Met) c.1408G>A (p.Val470Met) c.1417G>A (p.Val473Met) c.1393G>A (p.Val465Met) c.1405G>A (p.Val469Met) | dbSNP gnomAD v4 |
1 | g.16996084A= | CA1156030612 | ATP13A2 | c.1434T= (p.Thr478=) c.1419T= (p.Thr473=) n.1042T= n.462T= c.111T= (p.Thr37=) n.522T= c.462T= (p.Thr154=) c.1431T= (p.Thr477=) c.1407T= (p.Thr469=) c.1416T= (p.Thr472=) c.1392T= (p.Thr464=) c.1404T= (p.Thr468=) | |
1 | g.16996084A>C | CA416094800 | ATP13A2 | c.1434T>G (p.Thr478=) c.1419T>G (p.Thr473=) n.1042T>G n.462T>G c.111T>G (p.Thr37=) n.522T>G c.462T>G (p.Thr154=) c.1431T>G (p.Thr477=) c.1407T>G (p.Thr469=) c.1416T>G (p.Thr472=) c.1392T>G (p.Thr464=) c.1404T>G (p.Thr468=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16996084A>G | CA416094801 | ATP13A2 | c.1434T>C (p.Thr478=) c.1419T>C (p.Thr473=) n.1042T>C n.462T>C c.111T>C (p.Thr37=) n.522T>C c.462T>C (p.Thr154=) c.1431T>C (p.Thr477=) c.1407T>C (p.Thr469=) c.1416T>C (p.Thr472=) c.1392T>C (p.Thr464=) c.1404T>C (p.Thr468=) | dbSNP gnomAD v4 |
1 | g.16996084A>T | CA416094802 | ATP13A2 | c.1434T>A (p.Thr478=) c.1419T>A (p.Thr473=) n.1042T>A n.462T>A c.111T>A (p.Thr37=) n.522T>A c.462T>A (p.Thr154=) c.1431T>A (p.Thr477=) c.1407T>A (p.Thr469=) c.1416T>A (p.Thr472=) c.1392T>A (p.Thr464=) c.1404T>A (p.Thr468=) | |
1 | g.16996085G>A | CA338252432 | ATP13A2 | c.1433C>T (p.Thr478Ile) c.1418C>T (p.Thr473Ile) n.1041C>T n.461C>T c.110C>T (p.Thr37Ile) n.521C>T c.461C>T (p.Thr154Ile) c.1430C>T (p.Thr477Ile) c.1406C>T (p.Thr469Ile) c.1415C>T (p.Thr472Ile) c.1391C>T (p.Thr464Ile) c.1403C>T (p.Thr468Ile) | |
1 | g.16996085G>C | CA338252435 | ATP13A2 | c.1433C>G (p.Thr478Ser) c.1418C>G (p.Thr473Ser) n.1041C>G n.461C>G c.110C>G (p.Thr37Ser) n.521C>G c.461C>G (p.Thr154Ser) c.1430C>G (p.Thr477Ser) c.1406C>G (p.Thr469Ser) c.1415C>G (p.Thr472Ser) c.1391C>G (p.Thr464Ser) c.1403C>G (p.Thr468Ser) | |
1 | g.16996085G>T | CA338252452 | ATP13A2 | c.1433C>A (p.Thr478Asn) c.1418C>A (p.Thr473Asn) n.1041C>A n.461C>A c.110C>A (p.Thr37Asn) n.521C>A c.461C>A (p.Thr154Asn) c.1430C>A (p.Thr477Asn) c.1406C>A (p.Thr469Asn) c.1415C>A (p.Thr472Asn) c.1391C>A (p.Thr464Asn) c.1403C>A (p.Thr468Asn) | |
1 | g.16996086T>A | CA338252458 | ATP13A2 | c.1432A>T (p.Thr478Ser) c.1417A>T (p.Thr473Ser) n.1040A>T n.460A>T c.109A>T (p.Thr37Ser) n.520A>T c.460A>T (p.Thr154Ser) c.1429A>T (p.Thr477Ser) c.1405A>T (p.Thr469Ser) c.1414A>T (p.Thr472Ser) c.1390A>T (p.Thr464Ser) c.1402A>T (p.Thr468Ser) | |
1 | g.16996086T>C | CA338252459 | ATP13A2 | c.1432A>G (p.Thr478Ala) c.1417A>G (p.Thr473Ala) n.1040A>G n.460A>G c.109A>G (p.Thr37Ala) n.520A>G c.460A>G (p.Thr154Ala) c.1429A>G (p.Thr477Ala) c.1405A>G (p.Thr469Ala) c.1414A>G (p.Thr472Ala) c.1390A>G (p.Thr464Ala) c.1402A>G (p.Thr468Ala) | |
1 | g.16996086T>G | CA338252460 | ATP13A2 | c.1432A>C (p.Thr478Pro) c.1417A>C (p.Thr473Pro) n.1040A>C n.460A>C c.109A>C (p.Thr37Pro) n.520A>C c.460A>C (p.Thr154Pro) c.1429A>C (p.Thr477Pro) c.1405A>C (p.Thr469Pro) c.1414A>C (p.Thr472Pro) c.1390A>C (p.Thr464Pro) c.1402A>C (p.Thr468Pro) | |
1 | g.16996087C>A | CA338252461 | ATP13A2 | c.1431G>T (p.Met477Ile) c.1416G>T (p.Met472Ile) n.1039G>T n.459G>T c.108G>T (p.Met36Ile) c.573G>T (p.Met191Ile) n.519G>T c.459G>T (p.Met153Ile) c.1428G>T (p.Met476Ile) c.1404G>T (p.Met468Ile) c.1413G>T (p.Met471Ile) c.1389G>T (p.Met463Ile) c.1401G>T (p.Met467Ile) | |
1 | g.16996087C>G | CA338252462 | ATP13A2 | c.1431G>C (p.Met477Ile) c.1416G>C (p.Met472Ile) n.1039G>C n.459G>C c.108G>C (p.Met36Ile) c.573G>C (p.Met191Ile) n.519G>C c.459G>C (p.Met153Ile) c.1428G>C (p.Met476Ile) c.1404G>C (p.Met468Ile) c.1413G>C (p.Met471Ile) c.1389G>C (p.Met463Ile) c.1401G>C (p.Met467Ile) | |
1 | g.16996087C>T | CA338252463 | ATP13A2 | c.1431G>A (p.Met477Ile) c.1416G>A (p.Met472Ile) n.1039G>A n.459G>A c.108G>A (p.Met36Ile) c.573G>A (p.Met191Ile) n.519G>A c.459G>A (p.Met153Ile) c.1428G>A (p.Met476Ile) c.1404G>A (p.Met468Ile) c.1413G>A (p.Met471Ile) c.1389G>A (p.Met463Ile) c.1401G>A (p.Met467Ile) | gnomAD v4 |
1 | g.16996088A>C | CA338252466 | ATP13A2 | c.1430T>G (p.Met477Arg) c.1415T>G (p.Met472Arg) n.1038T>G n.458T>G c.107T>G (p.Met36Arg) c.572T>G (p.Met191Arg) n.518T>G c.458T>G (p.Met153Arg) c.1427T>G (p.Met476Arg) c.1403T>G (p.Met468Arg) c.1412T>G (p.Met471Arg) c.1388T>G (p.Met463Arg) c.1400T>G (p.Met467Arg) | |
1 | g.16996088A>G | CA338252465 | ATP13A2 | c.1430T>C (p.Met477Thr) c.1415T>C (p.Met472Thr) n.1038T>C n.458T>C c.107T>C (p.Met36Thr) c.572T>C (p.Met191Thr) n.518T>C c.458T>C (p.Met153Thr) c.1427T>C (p.Met476Thr) c.1403T>C (p.Met468Thr) c.1412T>C (p.Met471Thr) c.1388T>C (p.Met463Thr) c.1400T>C (p.Met467Thr) | gnomAD v4 |
1 | g.16996088A>T | CA338252464 | ATP13A2 | c.1430T>A (p.Met477Lys) c.1415T>A (p.Met472Lys) n.1038T>A n.458T>A c.107T>A (p.Met36Lys) c.572T>A (p.Met191Lys) n.518T>A c.458T>A (p.Met153Lys) c.1427T>A (p.Met476Lys) c.1403T>A (p.Met468Lys) c.1412T>A (p.Met471Lys) c.1388T>A (p.Met463Lys) c.1400T>A (p.Met467Lys) | |
1 | g.16996089T>A | CA338252467 | ATP13A2 | c.1429A>T (p.Met477Leu) c.1414A>T (p.Met472Leu) n.1037A>T n.457A>T c.106A>T (p.Met36Leu) c.571A>T (p.Met191Leu) n.517A>T c.457A>T (p.Met153Leu) c.1426A>T (p.Met476Leu) c.1402A>T (p.Met468Leu) c.1411A>T (p.Met471Leu) c.1387A>T (p.Met463Leu) c.1399A>T (p.Met467Leu) | |
1 | g.16996089T>C | CA637210 | ATP13A2 | c.1429A>G (p.Met477Val) c.1414A>G (p.Met472Val) n.1037A>G n.457A>G c.106A>G (p.Met36Val) c.571A>G (p.Met191Val) n.517A>G c.457A>G (p.Met153Val) c.1426A>G (p.Met476Val) c.1402A>G (p.Met468Val) c.1411A>G (p.Met471Val) c.1387A>G (p.Met463Val) c.1399A>G (p.Met467Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16996089T>G | CA338252468 | ATP13A2 | c.1429A>C (p.Met477Leu) c.1414A>C (p.Met472Leu) n.1037A>C n.457A>C c.106A>C (p.Met36Leu) c.571A>C (p.Met191Leu) n.517A>C c.457A>C (p.Met153Leu) c.1426A>C (p.Met476Leu) c.1402A>C (p.Met468Leu) c.1411A>C (p.Met471Leu) c.1387A>C (p.Met463Leu) c.1399A>C (p.Met467Leu) | |
1 | g.16996089T= | CA1156030614 | ATP13A2 | c.1429A= (p.Met477=) c.1414A= (p.Met472=) n.1037A= n.457A= c.106A= (p.Met36=) c.571A= (p.Met191=) n.517A= c.457A= (p.Met153=) c.1426A= (p.Met476=) c.1402A= (p.Met468=) c.1411A= (p.Met471=) c.1387A= (p.Met463=) c.1399A= (p.Met467=) | |
1 | g.16996089_16996090insTTT | CA2742637225 | ATP13A2 | c.1429_1430insAAA (p.Ala476_Met477insLys) c.1414_1415insAAA (p.Ala471_Met472insLys) n.1037_1038insAAA n.457_458insAAA c.106_107insAAA (p.Ala35_Met36insLys) c.571_572insAAA (p.Ala190_Met191insLys) n.517_518insAAA c.457_458insAAA (p.Ala152_Met153insLys) c.1426_1427insAAA (p.Ala475_Met476insLys) c.1402_1403insAAA (p.Ala467_Met468insLys) c.1411_1412insAAA (p.Ala470_Met471insLys) c.1387_1388insAAA (p.Ala462_Met463insLys) c.1399_1400insAAA (p.Ala466_Met467insLys) | |
1 | g.16996090G>A | CA416094805 | ATP13A2 | c.1428C>T (p.Ala476=) c.1413C>T (p.Ala471=) n.1036C>T n.456C>T c.105C>T (p.Ala35=) c.570C>T (p.Ala190=) n.516C>T c.456C>T (p.Ala152=) c.1425C>T (p.Ala475=) c.1401C>T (p.Ala467=) c.1410C>T (p.Ala470=) c.1386C>T (p.Ala462=) c.1398C>T (p.Ala466=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16996090G>C | CA416094806 | ATP13A2 | c.1428C>G (p.Ala476=) c.1413C>G (p.Ala471=) n.1036C>G n.456C>G c.105C>G (p.Ala35=) c.570C>G (p.Ala190=) n.516C>G c.456C>G (p.Ala152=) c.1425C>G (p.Ala475=) c.1401C>G (p.Ala467=) c.1410C>G (p.Ala470=) c.1386C>G (p.Ala462=) c.1398C>G (p.Ala466=) | |
1 | g.16996090G= | CA1156030618 | ATP13A2 | c.1428C= (p.Ala476=) c.1413C= (p.Ala471=) n.1036C= n.456C= c.105C= (p.Ala35=) c.570C= (p.Ala190=) n.516C= c.456C= (p.Ala152=) c.1425C= (p.Ala475=) c.1401C= (p.Ala467=) c.1410C= (p.Ala470=) c.1386C= (p.Ala462=) c.1398C= (p.Ala466=) | |
1 | g.16996090G>T | CA416094807 | ATP13A2 | c.1428C>A (p.Ala476=) c.1413C>A (p.Ala471=) n.1036C>A n.456C>A c.105C>A (p.Ala35=) c.570C>A (p.Ala190=) n.516C>A c.456C>A (p.Ala152=) c.1425C>A (p.Ala475=) c.1401C>A (p.Ala467=) c.1410C>A (p.Ala470=) c.1386C>A (p.Ala462=) c.1398C>A (p.Ala466=) | |
1 | g.16996090_16996096delinsTTTGGAAG | CA2586964005 | ATP13A2 | c.1422_1428delinsCTTCCAAA (p.Ala475PhefsTer?) c.1407_1413delinsCTTCCAAA (p.Ala470PhefsTer?) n.1030_1036delinsCTTCCAAA n.450_456delinsCTTCCAAA c.99_105delinsCTTCCAAA (p.Ala34PhefsTer?) c.564_570delinsCTTCCAAA (p.Ala189PhefsTer?) n.510_516delinsCTTCCAAA c.450_456delinsCTTCCAAA (p.Ala151PhefsTer?) c.1419_1425delinsCTTCCAAA (p.Ala474PhefsTer?) c.1395_1401delinsCTTCCAAA (p.Ala466PhefsTer?) c.1404_1410delinsCTTCCAAA (p.Ala469PhefsTer?) c.1380_1386delinsCTTCCAAA (p.Ala461PhefsTer?) c.1392_1398delinsCTTCCAAA (p.Ala465PhefsTer?) | |
1 | g.16996090_16996111dup | CA2580611136 | ATP13A2 | c.1407_1428dup (p.Met477AlafsTer?) c.1392_1413dup (p.Met472AlafsTer?) n.1015_1036dup n.435_456dup c.84_105dup (p.Met36AlafsTer?) c.549_570dup (p.Met191AlafsTer?) n.495_516dup c.435_456dup (p.Met153AlafsTer?) c.1404_1425dup (p.Met476AlafsTer?) c.1380_1401dup (p.Met468AlafsTer?) c.1389_1410dup (p.Met471AlafsTer?) c.1365_1386dup (p.Met463AlafsTer?) c.1377_1398dup (p.Met467AlafsTer?) | ClinVar |
1 | g.16996091G>A | CA338252469 | ATP13A2 | c.1427C>T (p.Ala476Val) c.1412C>T (p.Ala471Val) n.1035C>T n.455C>T c.104C>T (p.Ala35Val) c.569C>T (p.Ala190Val) n.515C>T c.455C>T (p.Ala152Val) c.1424C>T (p.Ala475Val) c.1400C>T (p.Ala467Val) c.1409C>T (p.Ala470Val) c.1385C>T (p.Ala462Val) c.1397C>T (p.Ala466Val) | |
1 | g.16996091G>C | CA338252471 | ATP13A2 | c.1427C>G (p.Ala476Gly) c.1412C>G (p.Ala471Gly) n.1035C>G n.455C>G c.104C>G (p.Ala35Gly) c.569C>G (p.Ala190Gly) n.515C>G c.455C>G (p.Ala152Gly) c.1424C>G (p.Ala475Gly) c.1400C>G (p.Ala467Gly) c.1409C>G (p.Ala470Gly) c.1385C>G (p.Ala462Gly) c.1397C>G (p.Ala466Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16996091G= | CA1156030623 | ATP13A2 | c.1427C= (p.Ala476=) c.1412C= (p.Ala471=) n.1035C= n.455C= c.104C= (p.Ala35=) c.569C= (p.Ala190=) n.515C= c.455C= (p.Ala152=) c.1424C= (p.Ala475=) c.1400C= (p.Ala467=) c.1409C= (p.Ala470=) c.1385C= (p.Ala462=) c.1397C= (p.Ala466=) | |
1 | g.16996091G>T | CA338252475 | ATP13A2 | c.1427C>A (p.Ala476Asp) c.1412C>A (p.Ala471Asp) n.1035C>A n.455C>A c.104C>A (p.Ala35Asp) c.569C>A (p.Ala190Asp) n.515C>A c.455C>A (p.Ala152Asp) c.1424C>A (p.Ala475Asp) c.1400C>A (p.Ala467Asp) c.1409C>A (p.Ala470Asp) c.1385C>A (p.Ala462Asp) c.1397C>A (p.Ala466Asp) | |
1 | g.16996095_16996097dup | CA2580611137 | ATP13A2 | c.1425_1427dup (p.Ala476_Met477insAla) c.1410_1412dup (p.Ala471_Met472insAla) n.1033_1035dup n.453_455dup c.102_104dup (p.Ala35_Met36insAla) c.567_569dup (p.Ala190_Met191insAla) n.513_515dup c.453_455dup (p.Ala152_Met153insAla) c.1422_1424dup (p.Ala475_Met476insAla) c.1398_1400dup (p.Ala467_Met468insAla) c.1407_1409dup (p.Ala470_Met471insAla) c.1383_1385dup (p.Ala462_Met463insAla) c.1395_1397dup (p.Ala466_Met467insAla) | ClinVar |
1 | g.16996092C>A | CA338252488 | ATP13A2 | c.1426G>T (p.Ala476Ser) c.1411G>T (p.Ala471Ser) n.1034G>T n.454G>T c.103G>T (p.Ala35Ser) c.568G>T (p.Ala190Ser) n.514G>T c.454G>T (p.Ala152Ser) c.1423G>T (p.Ala475Ser) c.1399G>T (p.Ala467Ser) c.1408G>T (p.Ala470Ser) c.1384G>T (p.Ala462Ser) c.1396G>T (p.Ala466Ser) | |
1 | g.16996092C>G | CA338252487 | ATP13A2 | c.1426G>C (p.Ala476Pro) c.1411G>C (p.Ala471Pro) n.1034G>C n.454G>C c.103G>C (p.Ala35Pro) c.568G>C (p.Ala190Pro) n.514G>C c.454G>C (p.Ala152Pro) c.1423G>C (p.Ala475Pro) c.1399G>C (p.Ala467Pro) c.1408G>C (p.Ala470Pro) c.1384G>C (p.Ala462Pro) c.1396G>C (p.Ala466Pro) | |
1 | g.16996092C>T | CA338252483 | ATP13A2 | c.1426G>A (p.Ala476Thr) c.1411G>A (p.Ala471Thr) n.1034G>A n.454G>A c.103G>A (p.Ala35Thr) c.568G>A (p.Ala190Thr) n.514G>A c.454G>A (p.Ala152Thr) c.1423G>A (p.Ala475Thr) c.1399G>A (p.Ala467Thr) c.1408G>A (p.Ala470Thr) c.1384G>A (p.Ala462Thr) c.1396G>A (p.Ala466Thr) | gnomAD v4 |
1 | g.16996093A>C | CA416094808 | ATP13A2 | c.1425T>G (p.Ala475=) c.1410T>G (p.Ala470=) n.1033T>G n.453T>G c.102T>G (p.Ala34=) c.567T>G (p.Ala189=) n.513T>G c.453T>G (p.Ala151=) c.1422T>G (p.Ala474=) c.1398T>G (p.Ala466=) c.1407T>G (p.Ala469=) c.1383T>G (p.Ala461=) c.1395T>G (p.Ala465=) | |
1 | g.16996093A>G | CA416094810 | ATP13A2 | c.1425T>C (p.Ala475=) c.1410T>C (p.Ala470=) n.1033T>C n.453T>C c.102T>C (p.Ala34=) c.567T>C (p.Ala189=) n.513T>C c.453T>C (p.Ala151=) c.1422T>C (p.Ala474=) c.1398T>C (p.Ala466=) c.1407T>C (p.Ala469=) c.1383T>C (p.Ala461=) c.1395T>C (p.Ala465=) | gnomAD v4 |
1 | g.16996093A>T | CA416094809 | ATP13A2 | c.1425T>A (p.Ala475=) c.1410T>A (p.Ala470=) n.1033T>A n.453T>A c.102T>A (p.Ala34=) c.567T>A (p.Ala189=) n.513T>A c.453T>A (p.Ala151=) c.1422T>A (p.Ala474=) c.1398T>A (p.Ala466=) c.1407T>A (p.Ala469=) c.1383T>A (p.Ala461=) c.1395T>A (p.Ala465=) | |
1 | g.16996094G>A | CA338252489 | ATP13A2 | c.1424C>T (p.Ala475Val) c.1409C>T (p.Ala470Val) n.1032C>T n.452C>T c.101C>T (p.Ala34Val) c.566C>T (p.Ala189Val) n.512C>T c.452C>T (p.Ala151Val) c.1421C>T (p.Ala474Val) c.1397C>T (p.Ala466Val) c.1406C>T (p.Ala469Val) c.1382C>T (p.Ala461Val) c.1394C>T (p.Ala465Val) | gnomAD v4 |
1 | g.16996094G>C | CA338252490 | ATP13A2 | c.1424C>G (p.Ala475Gly) c.1409C>G (p.Ala470Gly) n.1032C>G n.452C>G c.101C>G (p.Ala34Gly) c.566C>G (p.Ala189Gly) n.512C>G c.452C>G (p.Ala151Gly) c.1421C>G (p.Ala474Gly) c.1397C>G (p.Ala466Gly) c.1406C>G (p.Ala469Gly) c.1382C>G (p.Ala461Gly) c.1394C>G (p.Ala465Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16996094G= | CA1156030643 | ATP13A2 | c.1424C= (p.Ala475=) c.1409C= (p.Ala470=) n.1032C= n.452C= c.101C= (p.Ala34=) c.566C= (p.Ala189=) n.512C= c.452C= (p.Ala151=) c.1421C= (p.Ala474=) c.1397C= (p.Ala466=) c.1406C= (p.Ala469=) c.1382C= (p.Ala461=) c.1394C= (p.Ala465=) | |
1 | g.16996094G>T | CA338252491 | ATP13A2 | c.1424C>A (p.Ala475Asp) c.1409C>A (p.Ala470Asp) n.1032C>A n.452C>A c.101C>A (p.Ala34Asp) c.566C>A (p.Ala189Asp) n.512C>A c.452C>A (p.Ala151Asp) c.1421C>A (p.Ala474Asp) c.1397C>A (p.Ala466Asp) c.1406C>A (p.Ala469Asp) c.1382C>A (p.Ala461Asp) c.1394C>A (p.Ala465Asp) | |
1 | g.16996095C>A | CA338252492 | ATP13A2 | c.1423G>T (p.Ala475Ser) c.1408G>T (p.Ala470Ser) n.1031G>T n.451G>T c.100G>T (p.Ala34Ser) c.565G>T (p.Ala189Ser) n.511G>T c.451G>T (p.Ala151Ser) c.1420G>T (p.Ala474Ser) c.1396G>T (p.Ala466Ser) c.1405G>T (p.Ala469Ser) c.1381G>T (p.Ala461Ser) c.1393G>T (p.Ala465Ser) | |
1 | g.16996095C>G | CA338252494 | ATP13A2 | c.1423G>C (p.Ala475Pro) c.1408G>C (p.Ala470Pro) n.1031G>C n.451G>C c.100G>C (p.Ala34Pro) c.565G>C (p.Ala189Pro) n.511G>C c.451G>C (p.Ala151Pro) c.1420G>C (p.Ala474Pro) c.1396G>C (p.Ala466Pro) c.1405G>C (p.Ala469Pro) c.1381G>C (p.Ala461Pro) c.1393G>C (p.Ala465Pro) | |
1 | g.16996095C>T | CA338252498 | ATP13A2 | c.1423G>A (p.Ala475Thr) c.1408G>A (p.Ala470Thr) n.1031G>A n.451G>A c.100G>A (p.Ala34Thr) c.565G>A (p.Ala189Thr) n.511G>A c.451G>A (p.Ala151Thr) c.1420G>A (p.Ala474Thr) c.1396G>A (p.Ala466Thr) c.1405G>A (p.Ala469Thr) c.1381G>A (p.Ala461Thr) c.1393G>A (p.Ala465Thr) | ClinVar |
1 | g.16996095_16996096del | CA2586964007 | ATP13A2 | c.1422_1423del (p.Ala475CysfsTer?) c.1407_1408del (p.Ala470CysfsTer?) n.1030_1031del n.450_451del c.99_100del (p.Ala34CysfsTer?) c.564_565del (p.Ala189CysfsTer?) n.510_511del c.450_451del (p.Ala151CysfsTer?) c.1419_1420del (p.Ala474CysfsTer?) c.1395_1396del (p.Ala466CysfsTer?) c.1404_1405del (p.Ala469CysfsTer?) c.1380_1381del (p.Ala461CysfsTer?) c.1392_1393del (p.Ala465CysfsTer?) | |
1 | g.16996096A>C | CA416094811 | ATP13A2 | c.1422T>G (p.Pro474=) c.1407T>G (p.Pro469=) n.1030T>G n.450T>G c.99T>G (p.Pro33=) c.564T>G (p.Pro188=) n.510T>G c.450T>G (p.Pro150=) c.1419T>G (p.Pro473=) c.1395T>G (p.Pro465=) c.1404T>G (p.Pro468=) c.1380T>G (p.Pro460=) c.1392T>G (p.Pro464=) | |
1 | g.16996096A>G | CA416094812 | ATP13A2 | c.1422T>C (p.Pro474=) c.1407T>C (p.Pro469=) n.1030T>C n.450T>C c.99T>C (p.Pro33=) c.564T>C (p.Pro188=) n.510T>C c.450T>C (p.Pro150=) c.1419T>C (p.Pro473=) c.1395T>C (p.Pro465=) c.1404T>C (p.Pro468=) c.1380T>C (p.Pro460=) c.1392T>C (p.Pro464=) | |
1 | g.16996096A>T | CA416094813 | ATP13A2 | c.1422T>A (p.Pro474=) c.1407T>A (p.Pro469=) n.1030T>A n.450T>A c.99T>A (p.Pro33=) c.564T>A (p.Pro188=) n.510T>A c.450T>A (p.Pro150=) c.1419T>A (p.Pro473=) c.1395T>A (p.Pro465=) c.1404T>A (p.Pro468=) c.1380T>A (p.Pro460=) c.1392T>A (p.Pro464=) | |
1 | g.16996097G>A | CA338252511 | ATP13A2 | c.1421C>T (p.Pro474Leu) c.1406C>T (p.Pro469Leu) n.1029C>T n.449C>T c.98C>T (p.Pro33Leu) c.563C>T (p.Pro188Leu) n.509C>T c.449C>T (p.Pro150Leu) c.1418C>T (p.Pro473Leu) c.1394C>T (p.Pro465Leu) c.1403C>T (p.Pro468Leu) c.1379C>T (p.Pro460Leu) c.1391C>T (p.Pro464Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16996097G>C | CA338252523 | ATP13A2 | c.1421C>G (p.Pro474Arg) c.1406C>G (p.Pro469Arg) n.1029C>G n.449C>G c.98C>G (p.Pro33Arg) c.563C>G (p.Pro188Arg) n.509C>G c.449C>G (p.Pro150Arg) c.1418C>G (p.Pro473Arg) c.1394C>G (p.Pro465Arg) c.1403C>G (p.Pro468Arg) c.1379C>G (p.Pro460Arg) c.1391C>G (p.Pro464Arg) | |
1 | g.16996097G= | CA1156030650 | ATP13A2 | c.1421C= (p.Pro474=) c.1406C= (p.Pro469=) n.1029C= n.449C= c.98C= (p.Pro33=) c.563C= (p.Pro188=) n.509C= c.449C= (p.Pro150=) c.1418C= (p.Pro473=) c.1394C= (p.Pro465=) c.1403C= (p.Pro468=) c.1379C= (p.Pro460=) c.1391C= (p.Pro464=) | |
1 | g.16996097G>T | CA338252513 | ATP13A2 | c.1421C>A (p.Pro474His) c.1406C>A (p.Pro469His) n.1029C>A n.449C>A c.98C>A (p.Pro33His) c.563C>A (p.Pro188His) n.509C>A c.449C>A (p.Pro150His) c.1418C>A (p.Pro473His) c.1394C>A (p.Pro465His) c.1403C>A (p.Pro468His) c.1379C>A (p.Pro460His) c.1391C>A (p.Pro464His) | |
1 | g.16996098G>A | CA338252539 | ATP13A2 | c.1420C>T (p.Pro474Ser) c.1405C>T (p.Pro469Ser) n.1028C>T n.448C>T c.97C>T (p.Pro33Ser) c.562C>T (p.Pro188Ser) n.508C>T c.448C>T (p.Pro150Ser) c.1417C>T (p.Pro473Ser) c.1393C>T (p.Pro465Ser) c.1402C>T (p.Pro468Ser) c.1378C>T (p.Pro460Ser) c.1390C>T (p.Pro464Ser) | |
1 | g.16996098G>C | CA637211 | ATP13A2 | c.1420C>G (p.Pro474Ala) c.1405C>G (p.Pro469Ala) n.1028C>G n.448C>G c.97C>G (p.Pro33Ala) c.562C>G (p.Pro188Ala) n.508C>G c.448C>G (p.Pro150Ala) c.1417C>G (p.Pro473Ala) c.1393C>G (p.Pro465Ala) c.1402C>G (p.Pro468Ala) c.1378C>G (p.Pro460Ala) c.1390C>G (p.Pro464Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16996098G= | CA1144493206 | ATP13A2 | c.1420C= (p.Pro474=) c.1405C= (p.Pro469=) n.1028C= n.448C= c.97C= (p.Pro33=) c.562C= (p.Pro188=) n.508C= c.448C= (p.Pro150=) c.1417C= (p.Pro473=) c.1393C= (p.Pro465=) c.1402C= (p.Pro468=) c.1378C= (p.Pro460=) c.1390C= (p.Pro464=) | |
1 | g.16996098G>T | CA338252548 | ATP13A2 | c.1420C>A (p.Pro474Thr) c.1405C>A (p.Pro469Thr) n.1028C>A n.448C>A c.97C>A (p.Pro33Thr) c.562C>A (p.Pro188Thr) n.508C>A c.448C>A (p.Pro150Thr) c.1417C>A (p.Pro473Thr) c.1393C>A (p.Pro465Thr) c.1402C>A (p.Pro468Thr) c.1378C>A (p.Pro460Thr) c.1390C>A (p.Pro464Thr) | |
1 | g.16996099C>A | CA416094503 | ATP13A2 | c.1419G>T (p.Leu473=) c.1404G>T (p.Leu468=) n.1027G>T n.447G>T c.96G>T (p.Leu32=) c.561G>T (p.Leu187=) n.507G>T c.447G>T (p.Leu149=) c.1416G>T (p.Leu472=) c.1392G>T (p.Leu464=) c.1401G>T (p.Leu467=) c.1377G>T (p.Leu459=) c.1389G>T (p.Leu463=) | |
1 | g.16996099C= | CA1148235153 | ATP13A2 | c.1419G= (p.Leu473=) c.1404G= (p.Leu468=) n.1027G= n.447G= c.96G= (p.Leu32=) c.561G= (p.Leu187=) n.507G= c.447G= (p.Leu149=) c.1416G= (p.Leu472=) c.1392G= (p.Leu464=) c.1401G= (p.Leu467=) c.1377G= (p.Leu459=) c.1389G= (p.Leu463=) | |
1 | g.16996099C>G | CA416094504 | ATP13A2 | c.1419G>C (p.Leu473=) c.1404G>C (p.Leu468=) n.1027G>C n.447G>C c.96G>C (p.Leu32=) c.561G>C (p.Leu187=) n.507G>C c.447G>C (p.Leu149=) c.1416G>C (p.Leu472=) c.1392G>C (p.Leu464=) c.1401G>C (p.Leu467=) c.1377G>C (p.Leu459=) c.1389G>C (p.Leu463=) | |
1 | g.16996099C>T | CA637212 | ATP13A2 | c.1419G>A (p.Leu473=) c.1404G>A (p.Leu468=) n.1027G>A n.447G>A c.96G>A (p.Leu32=) c.561G>A (p.Leu187=) n.507G>A c.447G>A (p.Leu149=) c.1416G>A (p.Leu472=) c.1392G>A (p.Leu464=) c.1401G>A (p.Leu467=) c.1377G>A (p.Leu459=) c.1389G>A (p.Leu463=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16996100A= | CA1145998148 | ATP13A2 | c.1418T= (p.Leu473=) c.1403T= (p.Leu468=) n.1026T= n.446T= c.95T= (p.Leu32=) c.560T= (p.Leu187=) n.506T= c.446T= (p.Leu149=) c.1415T= (p.Leu472=) c.1391T= (p.Leu464=) c.1400T= (p.Leu467=) c.1376T= (p.Leu459=) c.1388T= (p.Leu463=) | |
1 | g.16996100A>C | CA637213 | ATP13A2 | c.1418T>G (p.Leu473Arg) c.1403T>G (p.Leu468Arg) n.1026T>G n.446T>G c.95T>G (p.Leu32Arg) c.560T>G (p.Leu187Arg) n.506T>G c.446T>G (p.Leu149Arg) c.1415T>G (p.Leu472Arg) c.1391T>G (p.Leu464Arg) c.1400T>G (p.Leu467Arg) c.1376T>G (p.Leu459Arg) c.1388T>G (p.Leu463Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16996100A>G | CA338252555 | ATP13A2 | c.1418T>C (p.Leu473Pro) c.1403T>C (p.Leu468Pro) n.1026T>C n.446T>C c.95T>C (p.Leu32Pro) c.560T>C (p.Leu187Pro) n.506T>C c.446T>C (p.Leu149Pro) c.1415T>C (p.Leu472Pro) c.1391T>C (p.Leu464Pro) c.1400T>C (p.Leu467Pro) c.1376T>C (p.Leu459Pro) c.1388T>C (p.Leu463Pro) | |
1 | g.16996100A>T | CA338252557 | ATP13A2 | c.1418T>A (p.Leu473Gln) c.1403T>A (p.Leu468Gln) n.1026T>A n.446T>A c.95T>A (p.Leu32Gln) c.560T>A (p.Leu187Gln) n.506T>A c.446T>A (p.Leu149Gln) c.1415T>A (p.Leu472Gln) c.1391T>A (p.Leu464Gln) c.1400T>A (p.Leu467Gln) c.1376T>A (p.Leu459Gln) c.1388T>A (p.Leu463Gln) | |
1 | g.16996101G>A | CA416094505 | ATP13A2 | c.1417C>T (p.Leu473=) c.1402C>T (p.Leu468=) n.1025C>T n.445C>T c.94C>T (p.Leu32=) c.559C>T (p.Leu187=) n.505C>T c.445C>T (p.Leu149=) c.1414C>T (p.Leu472=) c.1390C>T (p.Leu464=) c.1399C>T (p.Leu467=) c.1375C>T (p.Leu459=) c.1387C>T (p.Leu463=) | |
1 | g.16996101G>C | CA338252566 | ATP13A2 | c.1417C>G (p.Leu473Val) c.1402C>G (p.Leu468Val) n.1025C>G n.445C>G c.94C>G (p.Leu32Val) c.559C>G (p.Leu187Val) n.505C>G c.445C>G (p.Leu149Val) c.1414C>G (p.Leu472Val) c.1390C>G (p.Leu464Val) c.1399C>G (p.Leu467Val) c.1375C>G (p.Leu459Val) c.1387C>G (p.Leu463Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16996101G= | CA1156030665 | ATP13A2 | c.1417C= (p.Leu473=) c.1402C= (p.Leu468=) n.1025C= n.445C= c.94C= (p.Leu32=) c.559C= (p.Leu187=) n.505C= c.445C= (p.Leu149=) c.1414C= (p.Leu472=) c.1390C= (p.Leu464=) c.1399C= (p.Leu467=) c.1375C= (p.Leu459=) c.1387C= (p.Leu463=) | |
1 | g.16996101G>T | CA338252568 | ATP13A2 | c.1417C>A (p.Leu473Met) c.1402C>A (p.Leu468Met) n.1025C>A n.445C>A c.94C>A (p.Leu32Met) c.559C>A (p.Leu187Met) n.505C>A c.445C>A (p.Leu149Met) c.1414C>A (p.Leu472Met) c.1390C>A (p.Leu464Met) c.1399C>A (p.Leu467Met) c.1375C>A (p.Leu459Met) c.1387C>A (p.Leu463Met) | |
1 | g.16996102G>A | CA416094506 | ATP13A2 | c.1416C>T (p.Ala472=) c.1401C>T (p.Ala467=) n.1024C>T n.444C>T c.93C>T (p.Ala31=) c.558C>T (p.Ala186=) n.504C>T c.444C>T (p.Ala148=) c.1413C>T (p.Ala471=) c.1389C>T (p.Ala463=) c.1398C>T (p.Ala466=) c.1374C>T (p.Ala458=) c.1386C>T (p.Ala462=) | |
1 | g.16996102G>C | CA416094508 | ATP13A2 | c.1416C>G (p.Ala472=) c.1401C>G (p.Ala467=) n.1024C>G n.444C>G c.93C>G (p.Ala31=) c.558C>G (p.Ala186=) n.504C>G c.444C>G (p.Ala148=) c.1413C>G (p.Ala471=) c.1389C>G (p.Ala463=) c.1398C>G (p.Ala466=) c.1374C>G (p.Ala458=) c.1386C>G (p.Ala462=) | |
1 | g.16996102G>T | CA416094507 | ATP13A2 | c.1416C>A (p.Ala472=) c.1401C>A (p.Ala467=) n.1024C>A n.444C>A c.93C>A (p.Ala31=) c.558C>A (p.Ala186=) n.504C>A c.444C>A (p.Ala148=) c.1413C>A (p.Ala471=) c.1389C>A (p.Ala463=) c.1398C>A (p.Ala466=) c.1374C>A (p.Ala458=) c.1386C>A (p.Ala462=) | |
1 | g.16996103G>A | CA338252585 | ATP13A2 | c.1415C>T (p.Ala472Val) c.1400C>T (p.Ala467Val) n.1023C>T n.443C>T c.92C>T (p.Ala31Val) c.557C>T (p.Ala186Val) n.503C>T c.443C>T (p.Ala148Val) c.1412C>T (p.Ala471Val) c.1388C>T (p.Ala463Val) c.1397C>T (p.Ala466Val) c.1373C>T (p.Ala458Val) c.1385C>T (p.Ala462Val) | |
1 | g.16996103G>C | CA338252591 | ATP13A2 | c.1415C>G (p.Ala472Gly) c.1400C>G (p.Ala467Gly) n.1023C>G n.443C>G c.92C>G (p.Ala31Gly) c.557C>G (p.Ala186Gly) n.503C>G c.443C>G (p.Ala148Gly) c.1412C>G (p.Ala471Gly) c.1388C>G (p.Ala463Gly) c.1397C>G (p.Ala466Gly) c.1373C>G (p.Ala458Gly) c.1385C>G (p.Ala462Gly) | |
1 | g.16996103G>T | CA338252592 | ATP13A2 | c.1415C>A (p.Ala472Asp) c.1400C>A (p.Ala467Asp) n.1023C>A n.443C>A c.92C>A (p.Ala31Asp) c.557C>A (p.Ala186Asp) n.503C>A c.443C>A (p.Ala148Asp) c.1412C>A (p.Ala471Asp) c.1388C>A (p.Ala463Asp) c.1397C>A (p.Ala466Asp) c.1373C>A (p.Ala458Asp) c.1385C>A (p.Ala462Asp) | |
1 | g.16996104C>A | CA338252594 | ATP13A2 | c.1414G>T (p.Ala472Ser) c.1399G>T (p.Ala467Ser) n.1022G>T n.442G>T c.91G>T (p.Ala31Ser) c.556G>T (p.Ala186Ser) n.502G>T c.442G>T (p.Ala148Ser) c.1411G>T (p.Ala471Ser) c.1387G>T (p.Ala463Ser) c.1396G>T (p.Ala466Ser) c.1372G>T (p.Ala458Ser) c.1384G>T (p.Ala462Ser) | gnomAD v4 |
1 | g.16996104C>G | CA338252610 | ATP13A2 | c.1414G>C (p.Ala472Pro) c.1399G>C (p.Ala467Pro) n.1022G>C n.442G>C c.91G>C (p.Ala31Pro) c.556G>C (p.Ala186Pro) n.502G>C c.442G>C (p.Ala148Pro) c.1411G>C (p.Ala471Pro) c.1387G>C (p.Ala463Pro) c.1396G>C (p.Ala466Pro) c.1372G>C (p.Ala458Pro) c.1384G>C (p.Ala462Pro) | |
1 | g.16996104C>T | CA338252606 | ATP13A2 | c.1414G>A (p.Ala472Thr) c.1399G>A (p.Ala467Thr) n.1022G>A n.442G>A c.91G>A (p.Ala31Thr) c.556G>A (p.Ala186Thr) n.502G>A c.442G>A (p.Ala148Thr) c.1411G>A (p.Ala471Thr) c.1387G>A (p.Ala463Thr) c.1396G>A (p.Ala466Thr) c.1372G>A (p.Ala458Thr) c.1384G>A (p.Ala462Thr) | gnomAD v4 |
1 | g.16996105A>C | CA416094509 | ATP13A2 | c.1413T>G (p.Pro471=) c.1398T>G (p.Pro466=) n.1021T>G n.441T>G c.90T>G (p.Pro30=) c.555T>G (p.Pro185=) n.501T>G c.441T>G (p.Pro147=) c.1410T>G (p.Pro470=) c.1386T>G (p.Pro462=) c.1395T>G (p.Pro465=) c.1371T>G (p.Pro457=) c.1383T>G (p.Pro461=) | |
1 | g.16996105A>G | CA416094510 | ATP13A2 | c.1413T>C (p.Pro471=) c.1398T>C (p.Pro466=) n.1021T>C n.441T>C c.90T>C (p.Pro30=) c.555T>C (p.Pro185=) n.501T>C c.441T>C (p.Pro147=) c.1410T>C (p.Pro470=) c.1386T>C (p.Pro462=) c.1395T>C (p.Pro465=) c.1371T>C (p.Pro457=) c.1383T>C (p.Pro461=) | |
1 | g.16996105A>T | CA416094511 | ATP13A2 | c.1413T>A (p.Pro471=) c.1398T>A (p.Pro466=) n.1021T>A n.441T>A c.90T>A (p.Pro30=) c.555T>A (p.Pro185=) n.501T>A c.441T>A (p.Pro147=) c.1410T>A (p.Pro470=) c.1386T>A (p.Pro462=) c.1395T>A (p.Pro465=) c.1371T>A (p.Pro457=) c.1383T>A (p.Pro461=) | |
1 | g.16996106G>A | CA338252613 | ATP13A2 | c.1412C>T (p.Pro471Leu) c.1397C>T (p.Pro466Leu) n.1020C>T n.440C>T c.89C>T (p.Pro30Leu) c.554C>T (p.Pro185Leu) n.500C>T c.440C>T (p.Pro147Leu) c.1409C>T (p.Pro470Leu) c.1385C>T (p.Pro462Leu) c.1394C>T (p.Pro465Leu) c.1370C>T (p.Pro457Leu) c.1382C>T (p.Pro461Leu) | gnomAD v4 |
1 | g.16996106G>C | CA338252616 | ATP13A2 | c.1412C>G (p.Pro471Arg) c.1397C>G (p.Pro466Arg) n.1020C>G n.440C>G c.89C>G (p.Pro30Arg) c.554C>G (p.Pro185Arg) n.500C>G c.440C>G (p.Pro147Arg) c.1409C>G (p.Pro470Arg) c.1385C>G (p.Pro462Arg) c.1394C>G (p.Pro465Arg) c.1370C>G (p.Pro457Arg) c.1382C>G (p.Pro461Arg) | |
1 | g.16996106G>T | CA338252620 | ATP13A2 | c.1412C>A (p.Pro471His) c.1397C>A (p.Pro466His) n.1020C>A n.440C>A c.89C>A (p.Pro30His) c.554C>A (p.Pro185His) n.500C>A c.440C>A (p.Pro147His) c.1409C>A (p.Pro470His) c.1385C>A (p.Pro462His) c.1394C>A (p.Pro465His) c.1370C>A (p.Pro457His) c.1382C>A (p.Pro461His) | |
1 | g.16996107dup | CA2842229631 | ATP13A2 | c.1412dup (p.Ala472CysfsTer?) c.1397dup (p.Ala467CysfsTer?) n.1020dup n.440dup c.89dup (p.Ala31CysfsTer?) c.554dup (p.Ala186CysfsTer?) n.500dup c.440dup (p.Ala148CysfsTer?) c.1409dup (p.Ala471CysfsTer?) c.1385dup (p.Ala463CysfsTer?) c.1394dup (p.Ala466CysfsTer?) c.1370dup (p.Ala458CysfsTer?) c.1382dup (p.Ala462CysfsTer?) | |
1 | g.16996107G>A | CA338252623 | ATP13A2 | c.1411C>T (p.Pro471Ser) c.1396C>T (p.Pro466Ser) n.1019C>T n.439C>T c.88C>T (p.Pro30Ser) c.553C>T (p.Pro185Ser) n.499C>T c.439C>T (p.Pro147Ser) c.1408C>T (p.Pro470Ser) c.1384C>T (p.Pro462Ser) c.1393C>T (p.Pro465Ser) c.1369C>T (p.Pro457Ser) c.1381C>T (p.Pro461Ser) | |
1 | g.16996107G>C | CA338252629 | ATP13A2 | c.1411C>G (p.Pro471Ala) c.1396C>G (p.Pro466Ala) n.1019C>G n.439C>G c.88C>G (p.Pro30Ala) c.553C>G (p.Pro185Ala) n.499C>G c.439C>G (p.Pro147Ala) c.1408C>G (p.Pro470Ala) c.1384C>G (p.Pro462Ala) c.1393C>G (p.Pro465Ala) c.1369C>G (p.Pro457Ala) c.1381C>G (p.Pro461Ala) | |
1 | g.16996107G>T | CA338252640 | ATP13A2 | c.1411C>A (p.Pro471Thr) c.1396C>A (p.Pro466Thr) n.1019C>A n.439C>A c.88C>A (p.Pro30Thr) c.553C>A (p.Pro185Thr) n.499C>A c.439C>A (p.Pro147Thr) c.1408C>A (p.Pro470Thr) c.1384C>A (p.Pro462Thr) c.1393C>A (p.Pro465Thr) c.1369C>A (p.Pro457Thr) c.1381C>A (p.Pro461Thr) | |
1 | g.16996108T>A | CA416094512 | ATP13A2 | c.1410A>T (p.Pro470=) c.1395A>T (p.Pro465=) n.1018A>T n.438A>T c.87A>T (p.Pro29=) c.552A>T (p.Pro184=) n.498A>T c.438A>T (p.Pro146=) c.1407A>T (p.Pro469=) c.1383A>T (p.Pro461=) c.1392A>T (p.Pro464=) c.1368A>T (p.Pro456=) c.1380A>T (p.Pro460=) | gnomAD v4 |
1 | g.16996108T>C | CA416094513 | ATP13A2 | c.1410A>G (p.Pro470=) c.1395A>G (p.Pro465=) n.1018A>G n.438A>G c.87A>G (p.Pro29=) c.552A>G (p.Pro184=) n.498A>G c.438A>G (p.Pro146=) c.1407A>G (p.Pro469=) c.1383A>G (p.Pro461=) c.1392A>G (p.Pro464=) c.1368A>G (p.Pro456=) c.1380A>G (p.Pro460=) | dbSNP |
1 | g.16996108T>G | CA416094514 | ATP13A2 | c.1410A>C (p.Pro470=) c.1395A>C (p.Pro465=) n.1018A>C n.438A>C c.87A>C (p.Pro29=) c.552A>C (p.Pro184=) n.498A>C c.438A>C (p.Pro146=) c.1407A>C (p.Pro469=) c.1383A>C (p.Pro461=) c.1392A>C (p.Pro464=) c.1368A>C (p.Pro456=) c.1380A>C (p.Pro460=) | dbSNP |
1 | g.16996108T= | CA1156030676 | ATP13A2 | c.1410A= (p.Pro470=) c.1395A= (p.Pro465=) n.1018A= n.438A= c.87A= (p.Pro29=) c.552A= (p.Pro184=) n.498A= c.438A= (p.Pro146=) c.1407A= (p.Pro469=) c.1383A= (p.Pro461=) c.1392A= (p.Pro464=) c.1368A= (p.Pro456=) c.1380A= (p.Pro460=) | |
1 | g.16996108_16996173delinsTGGCACCACCACGGTCACCAGGTCGAGAGCCCGGATTACAATCTCATTCAGAGGCACCTGGCAGGG | CA1156030673 | ATP13A2 | c.1354-9_1410delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA c.1339-9_1395delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA n.962-9_1018delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA n.382-9_438delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA c.31-9_87delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA c.496-9_552delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA n.442-9_498delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA c.382-9_438delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA c.1351-9_1407delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA c.1327-9_1383delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA c.1336-9_1392delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA c.1312-9_1368delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA c.1324-9_1380delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA | |
1 | g.16996109G>A | CA338252642 | ATP13A2 | c.1409C>T (p.Pro470Leu) c.1394C>T (p.Pro465Leu) n.1017C>T n.437C>T c.86C>T (p.Pro29Leu) c.551C>T (p.Pro184Leu) n.497C>T c.437C>T (p.Pro146Leu) c.1406C>T (p.Pro469Leu) c.1382C>T (p.Pro461Leu) c.1391C>T (p.Pro464Leu) c.1367C>T (p.Pro456Leu) c.1379C>T (p.Pro460Leu) | |
1 | g.16996109G>C | CA338252645 | ATP13A2 | c.1409C>G (p.Pro470Arg) c.1394C>G (p.Pro465Arg) n.1017C>G n.437C>G c.86C>G (p.Pro29Arg) c.551C>G (p.Pro184Arg) n.497C>G c.437C>G (p.Pro146Arg) c.1406C>G (p.Pro469Arg) c.1382C>G (p.Pro461Arg) c.1391C>G (p.Pro464Arg) c.1367C>G (p.Pro456Arg) c.1379C>G (p.Pro460Arg) | |
1 | g.16996109G>T | CA338252647 | ATP13A2 | c.1409C>A (p.Pro470Gln) c.1394C>A (p.Pro465Gln) n.1017C>A n.437C>A c.86C>A (p.Pro29Gln) c.551C>A (p.Pro184Gln) n.497C>A c.437C>A (p.Pro146Gln) c.1406C>A (p.Pro469Gln) c.1382C>A (p.Pro461Gln) c.1391C>A (p.Pro464Gln) c.1367C>A (p.Pro456Gln) c.1379C>A (p.Pro460Gln) | |
1 | g.16996116_16996180del | CA521449721 | ATP13A2 | c.1354-9_1409del c.1339-9_1394del n.962-9_1017del n.382-9_437del c.31-9_86del c.496-9_551del n.442-9_497del c.382-9_437del c.1351-9_1406del c.1327-9_1382del c.1336-9_1391del c.1312-9_1367del c.1324-9_1379del | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16996110G>A | CA338252649 | ATP13A2 | c.1408C>T (p.Pro470Ser) c.1393C>T (p.Pro465Ser) n.1016C>T n.436C>T c.85C>T (p.Pro29Ser) c.550C>T (p.Pro184Ser) n.496C>T c.436C>T (p.Pro146Ser) c.1405C>T (p.Pro469Ser) c.1381C>T (p.Pro461Ser) c.1390C>T (p.Pro464Ser) c.1366C>T (p.Pro456Ser) c.1378C>T (p.Pro460Ser) | dbSNP |
1 | g.16996110G>C | CA338252650 | ATP13A2 | c.1408C>G (p.Pro470Ala) c.1393C>G (p.Pro465Ala) n.1016C>G n.436C>G c.85C>G (p.Pro29Ala) c.550C>G (p.Pro184Ala) n.496C>G c.436C>G (p.Pro146Ala) c.1405C>G (p.Pro469Ala) c.1381C>G (p.Pro461Ala) c.1390C>G (p.Pro464Ala) c.1366C>G (p.Pro456Ala) c.1378C>G (p.Pro460Ala) | |
1 | g.16996110G= | CA1156030683 | ATP13A2 | c.1408C= (p.Pro470=) c.1393C= (p.Pro465=) n.1016C= n.436C= c.85C= (p.Pro29=) c.550C= (p.Pro184=) n.496C= c.436C= (p.Pro146=) c.1405C= (p.Pro469=) c.1381C= (p.Pro461=) c.1390C= (p.Pro464=) c.1366C= (p.Pro456=) c.1378C= (p.Pro460=) | |
1 | g.16996110G>T | CA338252651 | ATP13A2 | c.1408C>A (p.Pro470Thr) c.1393C>A (p.Pro465Thr) n.1016C>A n.436C>A c.85C>A (p.Pro29Thr) c.550C>A (p.Pro184Thr) n.496C>A c.436C>A (p.Pro146Thr) c.1405C>A (p.Pro469Thr) c.1381C>A (p.Pro461Thr) c.1390C>A (p.Pro464Thr) c.1366C>A (p.Pro456Thr) c.1378C>A (p.Pro460Thr) | |
1 | g.16996111C>A | CA416094515 | ATP13A2 | c.1407G>T (p.Val469=) c.1392G>T (p.Val464=) n.1015G>T n.435G>T c.84G>T (p.Val28=) c.549G>T (p.Val183=) n.495G>T c.435G>T (p.Val145=) c.1404G>T (p.Val468=) c.1380G>T (p.Val460=) c.1389G>T (p.Val463=) c.1365G>T (p.Val455=) c.1377G>T (p.Val459=) | |
1 | g.16996111C>G | CA416094516 | ATP13A2 | c.1407G>C (p.Val469=) c.1392G>C (p.Val464=) n.1015G>C n.435G>C c.84G>C (p.Val28=) c.549G>C (p.Val183=) n.495G>C c.435G>C (p.Val145=) c.1404G>C (p.Val468=) c.1380G>C (p.Val460=) c.1389G>C (p.Val463=) c.1365G>C (p.Val455=) c.1377G>C (p.Val459=) | |
1 | g.16996111C>T | CA416094517 | ATP13A2 | c.1407G>A (p.Val469=) c.1392G>A (p.Val464=) n.1015G>A n.435G>A c.84G>A (p.Val28=) c.549G>A (p.Val183=) n.495G>A c.435G>A (p.Val145=) c.1404G>A (p.Val468=) c.1380G>A (p.Val460=) c.1389G>A (p.Val463=) c.1365G>A (p.Val455=) c.1377G>A (p.Val459=) | gnomAD v4 |
1 | g.16996117_16996119del | CA2643673782 | ATP13A2 | c.1405_1407del (p.Val469del) c.1390_1392del (p.Val464del) n.1013_1015del n.433_435del c.82_84del (p.Val28del) c.547_549del (p.Val183del) n.493_495del c.433_435del (p.Val145del) c.1402_1404del (p.Val468del) c.1378_1380del (p.Val460del) c.1387_1389del (p.Val463del) c.1363_1365del (p.Val455del) c.1375_1377del (p.Val459del) | gnomAD v4 |
1 | g.16996112A>C | CA338252659 | ATP13A2 | c.1406T>G (p.Val469Gly) c.1391T>G (p.Val464Gly) n.1014T>G n.434T>G c.83T>G (p.Val28Gly) c.548T>G (p.Val183Gly) n.494T>G c.434T>G (p.Val145Gly) c.1403T>G (p.Val468Gly) c.1379T>G (p.Val460Gly) c.1388T>G (p.Val463Gly) c.1364T>G (p.Val455Gly) c.1376T>G (p.Val459Gly) | gnomAD v4 |
1 | g.16996112A>G | CA338252657 | ATP13A2 | c.1406T>C (p.Val469Ala) c.1391T>C (p.Val464Ala) n.1014T>C n.434T>C c.83T>C (p.Val28Ala) c.548T>C (p.Val183Ala) n.494T>C c.434T>C (p.Val145Ala) c.1403T>C (p.Val468Ala) c.1379T>C (p.Val460Ala) c.1388T>C (p.Val463Ala) c.1364T>C (p.Val455Ala) c.1376T>C (p.Val459Ala) | |
1 | g.16996112A>T | CA338252653 | ATP13A2 | c.1406T>A (p.Val469Glu) c.1391T>A (p.Val464Glu) n.1014T>A n.434T>A c.83T>A (p.Val28Glu) c.548T>A (p.Val183Glu) n.494T>A c.434T>A (p.Val145Glu) c.1403T>A (p.Val468Glu) c.1379T>A (p.Val460Glu) c.1388T>A (p.Val463Glu) c.1364T>A (p.Val455Glu) c.1376T>A (p.Val459Glu) | |
1 | g.16996113C>A | CA338252662 | ATP13A2 | c.1405G>T (p.Val469Leu) c.1390G>T (p.Val464Leu) n.1013G>T n.433G>T c.82G>T (p.Val28Leu) c.547G>T (p.Val183Leu) n.493G>T c.433G>T (p.Val145Leu) c.1402G>T (p.Val468Leu) c.1378G>T (p.Val460Leu) c.1387G>T (p.Val463Leu) c.1363G>T (p.Val455Leu) c.1375G>T (p.Val459Leu) | gnomAD v4 |
1 | g.16996113C= | CA1156030684 | ATP13A2 | c.1405G= (p.Val469=) c.1390G= (p.Val464=) n.1013G= n.433G= c.82G= (p.Val28=) c.547G= (p.Val183=) n.493G= c.433G= (p.Val145=) c.1402G= (p.Val468=) c.1378G= (p.Val460=) c.1387G= (p.Val463=) c.1363G= (p.Val455=) c.1375G= (p.Val459=) | |
1 | g.16996113C>G | CA338252668 | ATP13A2 | c.1405G>C (p.Val469Leu) c.1390G>C (p.Val464Leu) n.1013G>C n.433G>C c.82G>C (p.Val28Leu) c.547G>C (p.Val183Leu) n.493G>C c.433G>C (p.Val145Leu) c.1402G>C (p.Val468Leu) c.1378G>C (p.Val460Leu) c.1387G>C (p.Val463Leu) c.1363G>C (p.Val455Leu) c.1375G>C (p.Val459Leu) | |
1 | g.16996113C>T | CA338252670 | ATP13A2 | c.1405G>A (p.Val469Met) c.1390G>A (p.Val464Met) n.1013G>A n.433G>A c.82G>A (p.Val28Met) c.547G>A (p.Val183Met) n.493G>A c.433G>A (p.Val145Met) c.1402G>A (p.Val468Met) c.1378G>A (p.Val460Met) c.1387G>A (p.Val463Met) c.1363G>A (p.Val455Met) c.1375G>A (p.Val459Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16996114C>A | CA416094518 | ATP13A2 | c.1404G>T (p.Val468=) c.1389G>T (p.Val463=) n.1012G>T n.432G>T c.81G>T (p.Val27=) c.546G>T (p.Val182=) n.492G>T c.432G>T (p.Val144=) c.1401G>T (p.Val467=) c.1377G>T (p.Val459=) c.1386G>T (p.Val462=) c.1362G>T (p.Val454=) c.1374G>T (p.Val458=) | |
1 | g.16996114C= | CA1156030687 | ATP13A2 | c.1404G= (p.Val468=) c.1389G= (p.Val463=) n.1012G= n.432G= c.81G= (p.Val27=) c.546G= (p.Val182=) n.492G= c.432G= (p.Val144=) c.1401G= (p.Val467=) c.1377G= (p.Val459=) c.1386G= (p.Val462=) c.1362G= (p.Val454=) c.1374G= (p.Val458=) | |
1 | g.16996114C>G | CA416094519 | ATP13A2 | c.1404G>C (p.Val468=) c.1389G>C (p.Val463=) n.1012G>C n.432G>C c.81G>C (p.Val27=) c.546G>C (p.Val182=) n.492G>C c.432G>C (p.Val144=) c.1401G>C (p.Val467=) c.1377G>C (p.Val459=) c.1386G>C (p.Val462=) c.1362G>C (p.Val454=) c.1374G>C (p.Val458=) | |
1 | g.16996114C>T | CA416094520 | ATP13A2 | c.1404G>A (p.Val468=) c.1389G>A (p.Val463=) n.1012G>A n.432G>A c.81G>A (p.Val27=) c.546G>A (p.Val182=) n.492G>A c.432G>A (p.Val144=) c.1401G>A (p.Val467=) c.1377G>A (p.Val459=) c.1386G>A (p.Val462=) c.1362G>A (p.Val454=) c.1374G>A (p.Val458=) | dbSNP gnomAD v4 |
1 | g.16996115A>C | CA338252673 | ATP13A2 | c.1403T>G (p.Val468Gly) c.1388T>G (p.Val463Gly) n.1011T>G n.431T>G c.80T>G (p.Val27Gly) c.545T>G (p.Val182Gly) n.491T>G c.431T>G (p.Val144Gly) c.1400T>G (p.Val467Gly) c.1376T>G (p.Val459Gly) c.1385T>G (p.Val462Gly) c.1361T>G (p.Val454Gly) c.1373T>G (p.Val458Gly) | |
1 | g.16996115A>G | CA338252679 | ATP13A2 | c.1403T>C (p.Val468Ala) c.1388T>C (p.Val463Ala) n.1011T>C n.431T>C c.80T>C (p.Val27Ala) c.545T>C (p.Val182Ala) n.491T>C c.431T>C (p.Val144Ala) c.1400T>C (p.Val467Ala) c.1376T>C (p.Val459Ala) c.1385T>C (p.Val462Ala) c.1361T>C (p.Val454Ala) c.1373T>C (p.Val458Ala) | |
1 | g.16996115A>T | CA338252682 | ATP13A2 | c.1403T>A (p.Val468Glu) c.1388T>A (p.Val463Glu) n.1011T>A n.431T>A c.80T>A (p.Val27Glu) c.545T>A (p.Val182Glu) n.491T>A c.431T>A (p.Val144Glu) c.1400T>A (p.Val467Glu) c.1376T>A (p.Val459Glu) c.1385T>A (p.Val462Glu) c.1361T>A (p.Val454Glu) c.1373T>A (p.Val458Glu) | |
1 | g.16996116C>A | CA338252683 | ATP13A2 | c.1402G>T (p.Val468Leu) c.1387G>T (p.Val463Leu) n.1010G>T n.430G>T c.79G>T (p.Val27Leu) c.544G>T (p.Val182Leu) n.490G>T c.430G>T (p.Val144Leu) c.1399G>T (p.Val467Leu) c.1375G>T (p.Val459Leu) c.1384G>T (p.Val462Leu) c.1360G>T (p.Val454Leu) c.1372G>T (p.Val458Leu) | |
1 | g.16996116C>G | CA338252684 | ATP13A2 | c.1402G>C (p.Val468Leu) c.1387G>C (p.Val463Leu) n.1010G>C n.430G>C c.79G>C (p.Val27Leu) c.544G>C (p.Val182Leu) n.490G>C c.430G>C (p.Val144Leu) c.1399G>C (p.Val467Leu) c.1375G>C (p.Val459Leu) c.1384G>C (p.Val462Leu) c.1360G>C (p.Val454Leu) c.1372G>C (p.Val458Leu) | |
1 | g.16996116C>T | CA338252685 | ATP13A2 | c.1402G>A (p.Val468Met) c.1387G>A (p.Val463Met) n.1010G>A n.430G>A c.79G>A (p.Val27Met) c.544G>A (p.Val182Met) n.490G>A c.430G>A (p.Val144Met) c.1399G>A (p.Val467Met) c.1375G>A (p.Val459Met) c.1384G>A (p.Val462Met) c.1360G>A (p.Val454Met) c.1372G>A (p.Val458Met) | gnomAD v4 |
1 | g.16996117C>A | CA416094521 | ATP13A2 | c.1401G>T (p.Val467=) c.1386G>T (p.Val462=) n.1009G>T n.429G>T c.78G>T (p.Val26=) c.543G>T (p.Val181=) n.489G>T c.429G>T (p.Val143=) c.1398G>T (p.Val466=) c.1374G>T (p.Val458=) c.1383G>T (p.Val461=) c.1359G>T (p.Val453=) c.1371G>T (p.Val457=) | |
1 | g.16996117C>G | CA416094523 | ATP13A2 | c.1401G>C (p.Val467=) c.1386G>C (p.Val462=) n.1009G>C n.429G>C c.78G>C (p.Val26=) c.543G>C (p.Val181=) n.489G>C c.429G>C (p.Val143=) c.1398G>C (p.Val466=) c.1374G>C (p.Val458=) c.1383G>C (p.Val461=) c.1359G>C (p.Val453=) c.1371G>C (p.Val457=) | |
1 | g.16996117C>T | CA416094522 | ATP13A2 | c.1401G>A (p.Val467=) c.1386G>A (p.Val462=) n.1009G>A n.429G>A c.78G>A (p.Val26=) c.543G>A (p.Val181=) n.489G>A c.429G>A (p.Val143=) c.1398G>A (p.Val466=) c.1374G>A (p.Val458=) c.1383G>A (p.Val461=) c.1359G>A (p.Val453=) c.1371G>A (p.Val457=) | |
1 | g.16996118A= | CA1147045981 | ATP13A2 | c.1400T= (p.Val467=) c.1385T= (p.Val462=) n.1008T= n.428T= c.77T= (p.Val26=) c.542T= (p.Val181=) n.488T= c.428T= (p.Val143=) c.1397T= (p.Val466=) c.1373T= (p.Val458=) c.1382T= (p.Val461=) c.1358T= (p.Val453=) c.1370T= (p.Val457=) | |
1 | g.16996118A>C | CA338252686 | ATP13A2 | c.1400T>G (p.Val467Gly) c.1385T>G (p.Val462Gly) n.1008T>G n.428T>G c.77T>G (p.Val26Gly) c.542T>G (p.Val181Gly) n.488T>G c.428T>G (p.Val143Gly) c.1397T>G (p.Val466Gly) c.1373T>G (p.Val458Gly) c.1382T>G (p.Val461Gly) c.1358T>G (p.Val453Gly) c.1370T>G (p.Val457Gly) | |
1 | g.16996118A>G | CA338252687 | ATP13A2 | c.1400T>C (p.Val467Ala) c.1385T>C (p.Val462Ala) n.1008T>C n.428T>C c.77T>C (p.Val26Ala) c.542T>C (p.Val181Ala) n.488T>C c.428T>C (p.Val143Ala) c.1397T>C (p.Val466Ala) c.1373T>C (p.Val458Ala) c.1382T>C (p.Val461Ala) c.1358T>C (p.Val453Ala) c.1370T>C (p.Val457Ala) | |
1 | g.16996118A>T | CA637214 | ATP13A2 | c.1400T>A (p.Val467Glu) c.1385T>A (p.Val462Glu) n.1008T>A n.428T>A c.77T>A (p.Val26Glu) c.542T>A (p.Val181Glu) n.488T>A c.428T>A (p.Val143Glu) c.1397T>A (p.Val466Glu) c.1373T>A (p.Val458Glu) c.1382T>A (p.Val461Glu) c.1358T>A (p.Val453Glu) c.1370T>A (p.Val457Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16996118_16996119delinsAC | CA1156030692 | ATP13A2 | c.1399_1400delinsGT (p.Val467=) c.1384_1385delinsGT (p.Val462=) n.1007_1008delinsGT n.427_428delinsGT c.76_77delinsGT (p.Val26=) c.541_542delinsGT (p.Val181=) n.487_488delinsGT c.427_428delinsGT (p.Val143=) c.1396_1397delinsGT (p.Val466=) c.1372_1373delinsGT (p.Val458=) c.1381_1382delinsGT (p.Val461=) c.1357_1358delinsGT (p.Val453=) c.1369_1370delinsGT (p.Val457=) | |
1 | g.16996119del | CA18636947 | ATP13A2 | c.1399del (p.Val467TrpfsTer11) c.1384del (p.Val462TrpfsTer11) n.1007del n.427del c.76del (p.Val26TrpfsTer11) c.541del (p.Val181TrpfsTer?) n.487del c.427del (p.Val143TrpfsTer11) c.1396del (p.Val466TrpfsTer11) c.1372del (p.Val458TrpfsTer11) c.1381del (p.Val461TrpfsTer11) c.1357del (p.Val453TrpfsTer11) c.1369del (p.Val457TrpfsTer11) | dbSNP |
1 | g.16996119C>A | CA338252706 | ATP13A2 | c.1399G>T (p.Val467Leu) c.1384G>T (p.Val462Leu) n.1007G>T n.427G>T c.76G>T (p.Val26Leu) c.541G>T (p.Val181Leu) n.487G>T c.427G>T (p.Val143Leu) c.1396G>T (p.Val466Leu) c.1372G>T (p.Val458Leu) c.1381G>T (p.Val461Leu) c.1357G>T (p.Val453Leu) c.1369G>T (p.Val457Leu) | |
1 | g.16996119C= | CA1143707673 | ATP13A2 | c.1399G= (p.Val467=) c.1384G= (p.Val462=) n.1007G= n.427G= c.76G= (p.Val26=) c.541G= (p.Val181=) n.487G= c.427G= (p.Val143=) c.1396G= (p.Val466=) c.1372G= (p.Val458=) c.1381G= (p.Val461=) c.1357G= (p.Val453=) c.1369G= (p.Val457=) | |
1 | g.16996119C>G | CA338252709 | ATP13A2 | c.1399G>C (p.Val467Leu) c.1384G>C (p.Val462Leu) n.1007G>C n.427G>C c.76G>C (p.Val26Leu) c.541G>C (p.Val181Leu) n.487G>C c.427G>C (p.Val143Leu) c.1396G>C (p.Val466Leu) c.1372G>C (p.Val458Leu) c.1381G>C (p.Val461Leu) c.1357G>C (p.Val453Leu) c.1369G>C (p.Val457Leu) | |
1 | g.16996119C>T | CA637215 | ATP13A2 | c.1399G>A (p.Val467Met) c.1384G>A (p.Val462Met) n.1007G>A n.427G>A c.76G>A (p.Val26Met) c.541G>A (p.Val181Met) n.487G>A c.427G>A (p.Val143Met) c.1396G>A (p.Val466Met) c.1372G>A (p.Val458Met) c.1381G>A (p.Val461Met) c.1357G>A (p.Val453Met) c.1369G>A (p.Val457Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16996119dup | CA2842229632 | ATP13A2 | c.1399dup (p.Val467GlyfsTer?) c.1384dup (p.Val462GlyfsTer?) n.1007dup n.427dup c.76dup (p.Val26GlyfsTer?) c.541dup (p.Val181GlyfsTer?) n.487dup c.427dup (p.Val143GlyfsTer?) c.1396dup (p.Val466GlyfsTer?) c.1372dup (p.Val458GlyfsTer?) c.1381dup (p.Val461GlyfsTer?) c.1357dup (p.Val453GlyfsTer?) c.1369dup (p.Val457GlyfsTer?) | |
1 | g.16996120G>A | CA637216 | ATP13A2 | c.1398C>T (p.Thr466=) c.1383C>T (p.Thr461=) n.1006C>T n.426C>T c.75C>T (p.Thr25=) c.540C>T (p.Thr180=) n.486C>T c.426C>T (p.Thr142=) c.1395C>T (p.Thr465=) c.1371C>T (p.Thr457=) c.1380C>T (p.Thr460=) c.1356C>T (p.Thr452=) c.1368C>T (p.Thr456=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16996120G>C | CA416094524 | ATP13A2 | c.1398C>G (p.Thr466=) c.1383C>G (p.Thr461=) n.1006C>G n.426C>G c.75C>G (p.Thr25=) c.540C>G (p.Thr180=) n.486C>G c.426C>G (p.Thr142=) c.1395C>G (p.Thr465=) c.1371C>G (p.Thr457=) c.1380C>G (p.Thr460=) c.1356C>G (p.Thr452=) c.1368C>G (p.Thr456=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16996120G= | CA1156030711 | ATP13A2 | c.1398C= (p.Thr466=) c.1383C= (p.Thr461=) n.1006C= n.426C= c.75C= (p.Thr25=) c.540C= (p.Thr180=) n.486C= c.426C= (p.Thr142=) c.1395C= (p.Thr465=) c.1371C= (p.Thr457=) c.1380C= (p.Thr460=) c.1356C= (p.Thr452=) c.1368C= (p.Thr456=) | |
1 | g.16996120G>T | CA416094525 | ATP13A2 | c.1398C>A (p.Thr466=) c.1383C>A (p.Thr461=) n.1006C>A n.426C>A c.75C>A (p.Thr25=) c.540C>A (p.Thr180=) n.486C>A c.426C>A (p.Thr142=) c.1395C>A (p.Thr465=) c.1371C>A (p.Thr457=) c.1380C>A (p.Thr460=) c.1356C>A (p.Thr452=) c.1368C>A (p.Thr456=) | |
1 | g.16996121G>A | CA338252716 | ATP13A2 | c.1397C>T (p.Thr466Ile) c.1382C>T (p.Thr461Ile) n.1005C>T n.425C>T c.74C>T (p.Thr25Ile) c.539C>T (p.Thr180Ile) n.485C>T c.425C>T (p.Thr142Ile) c.1394C>T (p.Thr465Ile) c.1370C>T (p.Thr457Ile) c.1379C>T (p.Thr460Ile) c.1355C>T (p.Thr452Ile) c.1367C>T (p.Thr456Ile) | gnomAD v4 |
1 | g.16996121G>C | CA338252719 | ATP13A2 | c.1397C>G (p.Thr466Ser) c.1382C>G (p.Thr461Ser) n.1005C>G n.425C>G c.74C>G (p.Thr25Ser) c.539C>G (p.Thr180Ser) n.485C>G c.425C>G (p.Thr142Ser) c.1394C>G (p.Thr465Ser) c.1370C>G (p.Thr457Ser) c.1379C>G (p.Thr460Ser) c.1355C>G (p.Thr452Ser) c.1367C>G (p.Thr456Ser) | |
1 | g.16996121G>T | CA338252718 | ATP13A2 | c.1397C>A (p.Thr466Asn) c.1382C>A (p.Thr461Asn) n.1005C>A n.425C>A c.74C>A (p.Thr25Asn) c.539C>A (p.Thr180Asn) n.485C>A c.425C>A (p.Thr142Asn) c.1394C>A (p.Thr465Asn) c.1370C>A (p.Thr457Asn) c.1379C>A (p.Thr460Asn) c.1355C>A (p.Thr452Asn) c.1367C>A (p.Thr456Asn) | |
1 | g.16996122T>A | CA338252720 | ATP13A2 | c.1396A>T (p.Thr466Ser) c.1381A>T (p.Thr461Ser) n.1004A>T n.424A>T c.73A>T (p.Thr25Ser) c.538A>T (p.Thr180Ser) n.484A>T c.424A>T (p.Thr142Ser) c.1393A>T (p.Thr465Ser) c.1369A>T (p.Thr457Ser) c.1378A>T (p.Thr460Ser) c.1354A>T (p.Thr452Ser) c.1366A>T (p.Thr456Ser) | |
1 | g.16996122T>C | CA338252726 | ATP13A2 | c.1396A>G (p.Thr466Ala) c.1381A>G (p.Thr461Ala) n.1004A>G n.424A>G c.73A>G (p.Thr25Ala) c.538A>G (p.Thr180Ala) n.484A>G c.424A>G (p.Thr142Ala) c.1393A>G (p.Thr465Ala) c.1369A>G (p.Thr457Ala) c.1378A>G (p.Thr460Ala) c.1354A>G (p.Thr452Ala) c.1366A>G (p.Thr456Ala) | |
1 | g.16996122T>G | CA338252723 | ATP13A2 | c.1396A>C (p.Thr466Pro) c.1381A>C (p.Thr461Pro) n.1004A>C n.424A>C c.73A>C (p.Thr25Pro) c.538A>C (p.Thr180Pro) n.484A>C c.424A>C (p.Thr142Pro) c.1393A>C (p.Thr465Pro) c.1369A>C (p.Thr457Pro) c.1378A>C (p.Thr460Pro) c.1354A>C (p.Thr452Pro) c.1366A>C (p.Thr456Pro) | |
1 | g.16996123C>A | CA416094528 | ATP13A2 | c.1395G>T (p.Val465=) c.1380G>T (p.Val460=) n.1003G>T n.423G>T c.72G>T (p.Val24=) c.537G>T (p.Val179=) n.483G>T c.423G>T (p.Val141=) c.1392G>T (p.Val464=) c.1368G>T (p.Val456=) c.1377G>T (p.Val459=) c.1353G>T (p.Val451=) c.1365G>T (p.Val455=) | |
1 | g.16996123C= | CA1156030720 | ATP13A2 | c.1395G= (p.Val465=) c.1380G= (p.Val460=) n.1003G= n.423G= c.72G= (p.Val24=) c.537G= (p.Val179=) n.483G= c.423G= (p.Val141=) c.1392G= (p.Val464=) c.1368G= (p.Val456=) c.1377G= (p.Val459=) c.1353G= (p.Val451=) c.1365G= (p.Val455=) | |
1 | g.16996123C>G | CA416094527 | ATP13A2 | c.1395G>C (p.Val465=) c.1380G>C (p.Val460=) n.1003G>C n.423G>C c.72G>C (p.Val24=) c.537G>C (p.Val179=) n.483G>C c.423G>C (p.Val141=) c.1392G>C (p.Val464=) c.1368G>C (p.Val456=) c.1377G>C (p.Val459=) c.1353G>C (p.Val451=) c.1365G>C (p.Val455=) | |
1 | g.16996123C>T | CA416094526 | ATP13A2 | c.1395G>A (p.Val465=) c.1380G>A (p.Val460=) n.1003G>A n.423G>A c.72G>A (p.Val24=) c.537G>A (p.Val179=) n.483G>A c.423G>A (p.Val141=) c.1392G>A (p.Val464=) c.1368G>A (p.Val456=) c.1377G>A (p.Val459=) c.1353G>A (p.Val451=) c.1365G>A (p.Val455=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16996124A>C | CA338252728 | ATP13A2 | c.1394T>G (p.Val465Gly) c.1379T>G (p.Val460Gly) n.1002T>G n.422T>G c.71T>G (p.Val24Gly) c.536T>G (p.Val179Gly) n.482T>G c.422T>G (p.Val141Gly) c.1391T>G (p.Val464Gly) c.1367T>G (p.Val456Gly) c.1376T>G (p.Val459Gly) c.1352T>G (p.Val451Gly) c.1364T>G (p.Val455Gly) | |
1 | g.16996124A>G | CA338252732 | ATP13A2 | c.1394T>C (p.Val465Ala) c.1379T>C (p.Val460Ala) n.1002T>C n.422T>C c.71T>C (p.Val24Ala) c.536T>C (p.Val179Ala) n.482T>C c.422T>C (p.Val141Ala) c.1391T>C (p.Val464Ala) c.1367T>C (p.Val456Ala) c.1376T>C (p.Val459Ala) c.1352T>C (p.Val451Ala) c.1364T>C (p.Val455Ala) | |
1 | g.16996124A>T | CA338252729 | ATP13A2 | c.1394T>A (p.Val465Glu) c.1379T>A (p.Val460Glu) n.1002T>A n.422T>A c.71T>A (p.Val24Glu) c.536T>A (p.Val179Glu) n.482T>A c.422T>A (p.Val141Glu) c.1391T>A (p.Val464Glu) c.1367T>A (p.Val456Glu) c.1376T>A (p.Val459Glu) c.1352T>A (p.Val451Glu) c.1364T>A (p.Val455Glu) | |
1 | g.16996125C>A | CA338252739 | ATP13A2 | c.1393G>T (p.Val465Leu) c.1378G>T (p.Val460Leu) n.1001G>T n.421G>T c.70G>T (p.Val24Leu) c.535G>T (p.Val179Leu) n.481G>T c.421G>T (p.Val141Leu) c.1390G>T (p.Val464Leu) c.1366G>T (p.Val456Leu) c.1375G>T (p.Val459Leu) c.1351G>T (p.Val451Leu) c.1363G>T (p.Val455Leu) | |
1 | g.16996125C>G | CA338252744 | ATP13A2 | c.1393G>C (p.Val465Leu) c.1378G>C (p.Val460Leu) n.1001G>C n.421G>C c.70G>C (p.Val24Leu) c.535G>C (p.Val179Leu) n.481G>C c.421G>C (p.Val141Leu) c.1390G>C (p.Val464Leu) c.1366G>C (p.Val456Leu) c.1375G>C (p.Val459Leu) c.1351G>C (p.Val451Leu) c.1363G>C (p.Val455Leu) | |
1 | g.16996125C>T | CA338252748 | ATP13A2 | c.1393G>A (p.Val465Met) c.1378G>A (p.Val460Met) n.1001G>A n.421G>A c.70G>A (p.Val24Met) c.535G>A (p.Val179Met) n.481G>A c.421G>A (p.Val141Met) c.1390G>A (p.Val464Met) c.1366G>A (p.Val456Met) c.1375G>A (p.Val459Met) c.1351G>A (p.Val451Met) c.1363G>A (p.Val455Met) | |
1 | g.16996126C>A | CA416094529 | ATP13A2 | c.1392G>T (p.Leu464=) c.1377G>T (p.Leu459=) n.1000G>T n.420G>T c.69G>T (p.Leu23=) c.534G>T (p.Leu178=) n.480G>T c.420G>T (p.Leu140=) c.1389G>T (p.Leu463=) c.1365G>T (p.Leu455=) c.1374G>T (p.Leu458=) c.1350G>T (p.Leu450=) c.1362G>T (p.Leu454=) | |
1 | g.16996126C>G | CA416094530 | ATP13A2 | c.1392G>C (p.Leu464=) c.1377G>C (p.Leu459=) n.1000G>C n.420G>C c.69G>C (p.Leu23=) c.534G>C (p.Leu178=) n.480G>C c.420G>C (p.Leu140=) c.1389G>C (p.Leu463=) c.1365G>C (p.Leu455=) c.1374G>C (p.Leu458=) c.1350G>C (p.Leu450=) c.1362G>C (p.Leu454=) | |
1 | g.16996126C>T | CA416094531 | ATP13A2 | c.1392G>A (p.Leu464=) c.1377G>A (p.Leu459=) n.1000G>A n.420G>A c.69G>A (p.Leu23=) c.534G>A (p.Leu178=) n.480G>A c.420G>A (p.Leu140=) c.1389G>A (p.Leu463=) c.1365G>A (p.Leu455=) c.1374G>A (p.Leu458=) c.1350G>A (p.Leu450=) c.1362G>A (p.Leu454=) | |
1 | g.16996127A>C | CA338252751 | ATP13A2 | c.1391T>G (p.Leu464Arg) c.1376T>G (p.Leu459Arg) n.999T>G n.419T>G c.68T>G (p.Leu23Arg) c.533T>G (p.Leu178Arg) n.479T>G c.419T>G (p.Leu140Arg) c.1388T>G (p.Leu463Arg) c.1364T>G (p.Leu455Arg) c.1373T>G (p.Leu458Arg) c.1349T>G (p.Leu450Arg) c.1361T>G (p.Leu454Arg) | |
1 | g.16996127A>G | CA338252753 | ATP13A2 | c.1391T>C (p.Leu464Pro) c.1376T>C (p.Leu459Pro) n.999T>C n.419T>C c.68T>C (p.Leu23Pro) c.533T>C (p.Leu178Pro) n.479T>C c.419T>C (p.Leu140Pro) c.1388T>C (p.Leu463Pro) c.1364T>C (p.Leu455Pro) c.1373T>C (p.Leu458Pro) c.1349T>C (p.Leu450Pro) c.1361T>C (p.Leu454Pro) | |
1 | g.16996127A>T | CA338252754 | ATP13A2 | c.1391T>A (p.Leu464Gln) c.1376T>A (p.Leu459Gln) n.999T>A n.419T>A c.68T>A (p.Leu23Gln) c.533T>A (p.Leu178Gln) n.479T>A c.419T>A (p.Leu140Gln) c.1388T>A (p.Leu463Gln) c.1364T>A (p.Leu455Gln) c.1373T>A (p.Leu458Gln) c.1349T>A (p.Leu450Gln) c.1361T>A (p.Leu454Gln) | |
1 | g.16996128G>A | CA416094532 | ATP13A2 | c.1390C>T (p.Leu464=) c.1375C>T (p.Leu459=) n.998C>T n.418C>T c.67C>T (p.Leu23=) c.532C>T (p.Leu178=) n.478C>T c.418C>T (p.Leu140=) c.1387C>T (p.Leu463=) c.1363C>T (p.Leu455=) c.1372C>T (p.Leu458=) c.1348C>T (p.Leu450=) c.1360C>T (p.Leu454=) | gnomAD v4 |
1 | g.16996128G>C | CA338252760 | ATP13A2 | c.1390C>G (p.Leu464Val) c.1375C>G (p.Leu459Val) n.998C>G n.418C>G c.67C>G (p.Leu23Val) c.532C>G (p.Leu178Val) n.478C>G c.418C>G (p.Leu140Val) c.1387C>G (p.Leu463Val) c.1363C>G (p.Leu455Val) c.1372C>G (p.Leu458Val) c.1348C>G (p.Leu450Val) c.1360C>G (p.Leu454Val) | |
1 | g.16996128G>T | CA338252765 | ATP13A2 | c.1390C>A (p.Leu464Met) c.1375C>A (p.Leu459Met) n.998C>A n.418C>A c.67C>A (p.Leu23Met) c.532C>A (p.Leu178Met) n.478C>A c.418C>A (p.Leu140Met) c.1387C>A (p.Leu463Met) c.1363C>A (p.Leu455Met) c.1372C>A (p.Leu458Met) c.1348C>A (p.Leu450Met) c.1360C>A (p.Leu454Met) | |
1 | g.16996129G>A | CA416094534 | ATP13A2 | c.1389C>T (p.Asp463=) c.1374C>T (p.Asp458=) n.997C>T n.417C>T c.66C>T (p.Asp22=) c.531C>T (p.Asp177=) n.477C>T c.417C>T (p.Asp139=) c.1386C>T (p.Asp462=) c.1362C>T (p.Asp454=) c.1371C>T (p.Asp457=) c.1347C>T (p.Asp449=) c.1359C>T (p.Asp453=) | gnomAD v4 |
1 | g.16996129G>C | CA338252767 | ATP13A2 | c.1389C>G (p.Asp463Glu) c.1374C>G (p.Asp458Glu) n.997C>G n.417C>G c.66C>G (p.Asp22Glu) c.531C>G (p.Asp177Glu) n.477C>G c.417C>G (p.Asp139Glu) c.1386C>G (p.Asp462Glu) c.1362C>G (p.Asp454Glu) c.1371C>G (p.Asp457Glu) c.1347C>G (p.Asp449Glu) c.1359C>G (p.Asp453Glu) | |
1 | g.16996129G>T | CA338252769 | ATP13A2 | c.1389C>A (p.Asp463Glu) c.1374C>A (p.Asp458Glu) n.997C>A n.417C>A c.66C>A (p.Asp22Glu) c.531C>A (p.Asp177Glu) n.477C>A c.417C>A (p.Asp139Glu) c.1386C>A (p.Asp462Glu) c.1362C>A (p.Asp454Glu) c.1371C>A (p.Asp457Glu) c.1347C>A (p.Asp449Glu) c.1359C>A (p.Asp453Glu) | |
1 | g.16996130T>A | CA338252782 | ATP13A2 | c.1388A>T (p.Asp463Val) c.1373A>T (p.Asp458Val) n.996A>T n.416A>T c.65A>T (p.Asp22Val) c.530A>T (p.Asp177Val) n.476A>T c.416A>T (p.Asp139Val) c.1385A>T (p.Asp462Val) c.1361A>T (p.Asp454Val) c.1370A>T (p.Asp457Val) c.1346A>T (p.Asp449Val) c.1358A>T (p.Asp453Val) | |
1 | g.16996130T>C | CA338252774 | ATP13A2 | c.1388A>G (p.Asp463Gly) c.1373A>G (p.Asp458Gly) n.996A>G n.416A>G c.65A>G (p.Asp22Gly) c.530A>G (p.Asp177Gly) n.476A>G c.416A>G (p.Asp139Gly) c.1385A>G (p.Asp462Gly) c.1361A>G (p.Asp454Gly) c.1370A>G (p.Asp457Gly) c.1346A>G (p.Asp449Gly) c.1358A>G (p.Asp453Gly) | gnomAD v4 |
1 | g.16996130T>G | CA338252781 | ATP13A2 | c.1388A>C (p.Asp463Ala) c.1373A>C (p.Asp458Ala) n.996A>C n.416A>C c.65A>C (p.Asp22Ala) c.530A>C (p.Asp177Ala) n.476A>C c.416A>C (p.Asp139Ala) c.1385A>C (p.Asp462Ala) c.1361A>C (p.Asp454Ala) c.1370A>C (p.Asp457Ala) c.1346A>C (p.Asp449Ala) c.1358A>C (p.Asp453Ala) | |
1 | g.16996131C>A | CA338252783 | ATP13A2 | c.1387G>T (p.Asp463Tyr) c.1372G>T (p.Asp458Tyr) n.995G>T n.415G>T c.64G>T (p.Asp22Tyr) c.529G>T (p.Asp177Tyr) n.475G>T c.415G>T (p.Asp139Tyr) c.1384G>T (p.Asp462Tyr) c.1360G>T (p.Asp454Tyr) c.1369G>T (p.Asp457Tyr) c.1345G>T (p.Asp449Tyr) c.1357G>T (p.Asp453Tyr) | |
1 | g.16996131C= | CA1156030734 | ATP13A2 | c.1387G= (p.Asp463=) c.1372G= (p.Asp458=) n.995G= n.415G= c.64G= (p.Asp22=) c.529G= (p.Asp177=) n.475G= c.415G= (p.Asp139=) c.1384G= (p.Asp462=) c.1360G= (p.Asp454=) c.1369G= (p.Asp457=) c.1345G= (p.Asp449=) c.1357G= (p.Asp453=) | |
1 | g.16996131C>G | CA637217 | ATP13A2 | c.1387G>C (p.Asp463His) c.1372G>C (p.Asp458His) n.995G>C n.415G>C c.64G>C (p.Asp22His) c.529G>C (p.Asp177His) n.475G>C c.415G>C (p.Asp139His) c.1384G>C (p.Asp462His) c.1360G>C (p.Asp454His) c.1369G>C (p.Asp457His) c.1345G>C (p.Asp449His) c.1357G>C (p.Asp453His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16996131C>T | CA637218 | ATP13A2 | c.1387G>A (p.Asp463Asn) c.1372G>A (p.Asp458Asn) n.995G>A n.415G>A c.64G>A (p.Asp22Asn) c.529G>A (p.Asp177Asn) n.475G>A c.415G>A (p.Asp139Asn) c.1384G>A (p.Asp462Asn) c.1360G>A (p.Asp454Asn) c.1369G>A (p.Asp457Asn) c.1345G>A (p.Asp449Asn) c.1357G>A (p.Asp453Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16996132G>A | CA637219 | ATP13A2 | c.1386C>T (p.Leu462=) c.1371C>T (p.Leu457=) n.994C>T n.414C>T c.63C>T (p.Leu21=) c.528C>T (p.Leu176=) n.474C>T c.414C>T (p.Leu138=) c.1383C>T (p.Leu461=) c.1359C>T (p.Leu453=) c.1368C>T (p.Leu456=) c.1344C>T (p.Leu448=) c.1356C>T (p.Leu452=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16996132G>C | CA416094537 | ATP13A2 | c.1386C>G (p.Leu462=) c.1371C>G (p.Leu457=) n.994C>G n.414C>G c.63C>G (p.Leu21=) c.528C>G (p.Leu176=) n.474C>G c.414C>G (p.Leu138=) c.1383C>G (p.Leu461=) c.1359C>G (p.Leu453=) c.1368C>G (p.Leu456=) c.1344C>G (p.Leu448=) c.1356C>G (p.Leu452=) | |
1 | g.16996132G= | CA1156030744 | ATP13A2 | c.1386C= (p.Leu462=) c.1371C= (p.Leu457=) n.994C= n.414C= c.63C= (p.Leu21=) c.528C= (p.Leu176=) n.474C= c.414C= (p.Leu138=) c.1383C= (p.Leu461=) c.1359C= (p.Leu453=) c.1368C= (p.Leu456=) c.1344C= (p.Leu448=) c.1356C= (p.Leu452=) | |
1 | g.16996132G>T | CA416094536 | ATP13A2 | c.1386C>A (p.Leu462=) c.1371C>A (p.Leu457=) n.994C>A n.414C>A c.63C>A (p.Leu21=) c.528C>A (p.Leu176=) n.474C>A c.414C>A (p.Leu138=) c.1383C>A (p.Leu461=) c.1359C>A (p.Leu453=) c.1368C>A (p.Leu456=) c.1344C>A (p.Leu448=) c.1356C>A (p.Leu452=) | |
1 | g.16996133A>C | CA338252787 | ATP13A2 | c.1385T>G (p.Leu462Arg) c.1370T>G (p.Leu457Arg) n.993T>G n.413T>G c.62T>G (p.Leu21Arg) c.527T>G (p.Leu176Arg) n.473T>G c.413T>G (p.Leu138Arg) c.1382T>G (p.Leu461Arg) c.1358T>G (p.Leu453Arg) c.1367T>G (p.Leu456Arg) c.1343T>G (p.Leu448Arg) c.1355T>G (p.Leu452Arg) | |
1 | g.16996133A>G | CA338252788 | ATP13A2 | c.1385T>C (p.Leu462Pro) c.1370T>C (p.Leu457Pro) n.993T>C n.413T>C c.62T>C (p.Leu21Pro) c.527T>C (p.Leu176Pro) n.473T>C c.413T>C (p.Leu138Pro) c.1382T>C (p.Leu461Pro) c.1358T>C (p.Leu453Pro) c.1367T>C (p.Leu456Pro) c.1343T>C (p.Leu448Pro) c.1355T>C (p.Leu452Pro) | |
1 | g.16996133A>T | CA338252790 | ATP13A2 | c.1385T>A (p.Leu462His) c.1370T>A (p.Leu457His) n.993T>A n.413T>A c.62T>A (p.Leu21His) c.527T>A (p.Leu176His) n.473T>A c.413T>A (p.Leu138His) c.1382T>A (p.Leu461His) c.1358T>A (p.Leu453His) c.1367T>A (p.Leu456His) c.1343T>A (p.Leu448His) c.1355T>A (p.Leu452His) | |
1 | g.16996134G>A | CA18637014 | ATP13A2 | c.1384C>T (p.Leu462Phe) c.1369C>T (p.Leu457Phe) n.992C>T n.412C>T c.61C>T (p.Leu21Phe) c.526C>T (p.Leu176Phe) n.472C>T c.412C>T (p.Leu138Phe) c.1381C>T (p.Leu461Phe) c.1357C>T (p.Leu453Phe) c.1366C>T (p.Leu456Phe) c.1342C>T (p.Leu448Phe) c.1354C>T (p.Leu452Phe) | dbSNP |
1 | g.16996134G>C | CA637220 | ATP13A2 | c.1384C>G (p.Leu462Val) c.1369C>G (p.Leu457Val) n.992C>G n.412C>G c.61C>G (p.Leu21Val) c.526C>G (p.Leu176Val) n.472C>G c.412C>G (p.Leu138Val) c.1381C>G (p.Leu461Val) c.1357C>G (p.Leu453Val) c.1366C>G (p.Leu456Val) c.1342C>G (p.Leu448Val) c.1354C>G (p.Leu452Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16996134G= | CA1156030754 | ATP13A2 | c.1384C= (p.Leu462=) c.1369C= (p.Leu457=) n.992C= n.412C= c.61C= (p.Leu21=) c.526C= (p.Leu176=) n.472C= c.412C= (p.Leu138=) c.1381C= (p.Leu461=) c.1357C= (p.Leu453=) c.1366C= (p.Leu456=) c.1342C= (p.Leu448=) c.1354C= (p.Leu452=) | |
1 | g.16996134G>T | CA338252799 | ATP13A2 | c.1384C>A (p.Leu462Ile) c.1369C>A (p.Leu457Ile) n.992C>A n.412C>A c.61C>A (p.Leu21Ile) c.526C>A (p.Leu176Ile) n.472C>A c.412C>A (p.Leu138Ile) c.1381C>A (p.Leu461Ile) c.1357C>A (p.Leu453Ile) c.1366C>A (p.Leu456Ile) c.1342C>A (p.Leu448Ile) c.1354C>A (p.Leu452Ile) | gnomAD v4 |
1 | g.16996135A>C | CA416094540 | ATP13A2 | c.1383T>G (p.Ala461=) c.1368T>G (p.Ala456=) n.991T>G n.411T>G c.60T>G (p.Ala20=) c.525T>G (p.Ala175=) n.471T>G c.411T>G (p.Ala137=) c.1380T>G (p.Ala460=) c.1356T>G (p.Ala452=) c.1365T>G (p.Ala455=) c.1341T>G (p.Ala447=) c.1353T>G (p.Ala451=) | |
1 | g.16996135A>G | CA416094538 | ATP13A2 | c.1383T>C (p.Ala461=) c.1368T>C (p.Ala456=) n.991T>C n.411T>C c.60T>C (p.Ala20=) c.525T>C (p.Ala175=) n.471T>C c.411T>C (p.Ala137=) c.1380T>C (p.Ala460=) c.1356T>C (p.Ala452=) c.1365T>C (p.Ala455=) c.1341T>C (p.Ala447=) c.1353T>C (p.Ala451=) | |
1 | g.16996135A>T | CA416094539 | ATP13A2 | c.1383T>A (p.Ala461=) c.1368T>A (p.Ala456=) n.991T>A n.411T>A c.60T>A (p.Ala20=) c.525T>A (p.Ala175=) n.471T>A c.411T>A (p.Ala137=) c.1380T>A (p.Ala460=) c.1356T>A (p.Ala452=) c.1365T>A (p.Ala455=) c.1341T>A (p.Ala447=) c.1353T>A (p.Ala451=) | |
1 | g.16996136del | CA2574234438 | ATP13A2 | c.1382del (p.Ala461ValfsTer5) c.1367del (p.Ala456ValfsTer5) n.990del n.410del c.59del (p.Ala20ValfsTer5) c.524del (p.Ala175ValfsTer5) n.470del c.410del (p.Ala137ValfsTer5) c.1379del (p.Ala460ValfsTer5) c.1355del (p.Ala452ValfsTer5) c.1364del (p.Ala455ValfsTer5) c.1340del (p.Ala447ValfsTer5) c.1352del (p.Ala451ValfsTer5) | |
1 | g.16996136G>A | CA637221 | ATP13A2 | c.1382C>T (p.Ala461Val) c.1367C>T (p.Ala456Val) n.990C>T n.410C>T c.59C>T (p.Ala20Val) c.524C>T (p.Ala175Val) n.470C>T c.410C>T (p.Ala137Val) c.1379C>T (p.Ala460Val) c.1355C>T (p.Ala452Val) c.1364C>T (p.Ala455Val) c.1340C>T (p.Ala447Val) c.1352C>T (p.Ala451Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16996136G>C | CA338252804 | ATP13A2 | c.1382C>G (p.Ala461Gly) c.1367C>G (p.Ala456Gly) n.990C>G n.410C>G c.59C>G (p.Ala20Gly) c.524C>G (p.Ala175Gly) n.470C>G c.410C>G (p.Ala137Gly) c.1379C>G (p.Ala460Gly) c.1355C>G (p.Ala452Gly) c.1364C>G (p.Ala455Gly) c.1340C>G (p.Ala447Gly) c.1352C>G (p.Ala451Gly) | |
1 | g.16996136G= | CA1156030759 | ATP13A2 | c.1382C= (p.Ala461=) c.1367C= (p.Ala456=) n.990C= n.410C= c.59C= (p.Ala20=) c.524C= (p.Ala175=) n.470C= c.410C= (p.Ala137=) c.1379C= (p.Ala460=) c.1355C= (p.Ala452=) c.1364C= (p.Ala455=) c.1340C= (p.Ala447=) c.1352C= (p.Ala451=) | |
1 | g.16996136G>T | CA338252802 | ATP13A2 | c.1382C>A (p.Ala461Asp) c.1367C>A (p.Ala456Asp) n.990C>A n.410C>A c.59C>A (p.Ala20Asp) c.524C>A (p.Ala175Asp) n.470C>A c.410C>A (p.Ala137Asp) c.1379C>A (p.Ala460Asp) c.1355C>A (p.Ala452Asp) c.1364C>A (p.Ala455Asp) c.1340C>A (p.Ala447Asp) c.1352C>A (p.Ala451Asp) | |
1 | g.16996137C>A | CA338252805 | ATP13A2 | c.1381G>T (p.Ala461Ser) c.1366G>T (p.Ala456Ser) n.989G>T n.409G>T c.58G>T (p.Ala20Ser) c.523G>T (p.Ala175Ser) n.469G>T c.409G>T (p.Ala137Ser) c.1378G>T (p.Ala460Ser) c.1354G>T (p.Ala452Ser) c.1363G>T (p.Ala455Ser) c.1339G>T (p.Ala447Ser) c.1351G>T (p.Ala451Ser) | |
1 | g.16996137C= | CA1156030765 | ATP13A2 | c.1381G= (p.Ala461=) c.1366G= (p.Ala456=) n.989G= n.409G= c.58G= (p.Ala20=) c.523G= (p.Ala175=) n.469G= c.409G= (p.Ala137=) c.1378G= (p.Ala460=) c.1354G= (p.Ala452=) c.1363G= (p.Ala455=) c.1339G= (p.Ala447=) c.1351G= (p.Ala451=) | |
1 | g.16996137C>G | CA338252807 | ATP13A2 | c.1381G>C (p.Ala461Pro) c.1366G>C (p.Ala456Pro) n.989G>C n.409G>C c.58G>C (p.Ala20Pro) c.523G>C (p.Ala175Pro) n.469G>C c.409G>C (p.Ala137Pro) c.1378G>C (p.Ala460Pro) c.1354G>C (p.Ala452Pro) c.1363G>C (p.Ala455Pro) c.1339G>C (p.Ala447Pro) c.1351G>C (p.Ala451Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16996137C>T | CA637222 | ATP13A2 | c.1381G>A (p.Ala461Thr) c.1366G>A (p.Ala456Thr) n.989G>A n.409G>A c.58G>A (p.Ala20Thr) c.523G>A (p.Ala175Thr) n.469G>A c.409G>A (p.Ala137Thr) c.1378G>A (p.Ala460Thr) c.1354G>A (p.Ala452Thr) c.1363G>A (p.Ala455Thr) c.1339G>A (p.Ala447Thr) c.1351G>A (p.Ala451Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16996138C>A | CA416094542 | ATP13A2 | c.1380G>T (p.Arg460=) c.1365G>T (p.Arg455=) n.988G>T n.408G>T c.57G>T (p.Arg19=) c.522G>T (p.Arg174=) n.468G>T c.408G>T (p.Arg136=) c.1377G>T (p.Arg459=) c.1353G>T (p.Arg451=) c.1362G>T (p.Arg454=) c.1338G>T (p.Arg446=) c.1350G>T (p.Arg450=) | |
1 | g.16996138C= | CA1156030767 | ATP13A2 | c.1380G= (p.Arg460=) c.1365G= (p.Arg455=) n.988G= n.408G= c.57G= (p.Arg19=) c.522G= (p.Arg174=) n.468G= c.408G= (p.Arg136=) c.1377G= (p.Arg459=) c.1353G= (p.Arg451=) c.1362G= (p.Arg454=) c.1338G= (p.Arg446=) c.1350G= (p.Arg450=) | |
1 | g.16996138C>G | CA416094543 | ATP13A2 | c.1380G>C (p.Arg460=) c.1365G>C (p.Arg455=) n.988G>C n.408G>C c.57G>C (p.Arg19=) c.522G>C (p.Arg174=) n.468G>C c.408G>C (p.Arg136=) c.1377G>C (p.Arg459=) c.1353G>C (p.Arg451=) c.1362G>C (p.Arg454=) c.1338G>C (p.Arg446=) c.1350G>C (p.Arg450=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.16996138C>T | CA416094541 | ATP13A2 | c.1380G>A (p.Arg460=) c.1365G>A (p.Arg455=) n.988G>A n.408G>A c.57G>A (p.Arg19=) c.522G>A (p.Arg174=) n.468G>A c.408G>A (p.Arg136=) c.1377G>A (p.Arg459=) c.1353G>A (p.Arg451=) c.1362G>A (p.Arg454=) c.1338G>A (p.Arg446=) c.1350G>A (p.Arg450=) | |
1 | g.16996139C>A | CA338252815 | ATP13A2 | c.1379G>T (p.Arg460Leu) c.1364G>T (p.Arg455Leu) n.987G>T n.407G>T c.56G>T (p.Arg19Leu) c.521G>T (p.Arg174Leu) n.467G>T c.407G>T (p.Arg136Leu) c.1376G>T (p.Arg459Leu) c.1352G>T (p.Arg451Leu) c.1361G>T (p.Arg454Leu) c.1337G>T (p.Arg446Leu) c.1349G>T (p.Arg450Leu) | |
1 | g.16996139C= | CA1142365898 | ATP13A2 | c.1379G= (p.Arg460=) c.1364G= (p.Arg455=) n.987G= n.407G= c.56G= (p.Arg19=) c.521G= (p.Arg174=) n.467G= c.407G= (p.Arg136=) c.1376G= (p.Arg459=) c.1352G= (p.Arg451=) c.1361G= (p.Arg454=) c.1337G= (p.Arg446=) c.1349G= (p.Arg450=) | |
1 | g.16996139C>G | CA338252825 | ATP13A2 | c.1379G>C (p.Arg460Pro) c.1364G>C (p.Arg455Pro) n.987G>C n.407G>C c.56G>C (p.Arg19Pro) c.521G>C (p.Arg174Pro) n.467G>C c.407G>C (p.Arg136Pro) c.1376G>C (p.Arg459Pro) c.1352G>C (p.Arg451Pro) c.1361G>C (p.Arg454Pro) c.1337G>C (p.Arg446Pro) c.1349G>C (p.Arg450Pro) | |
1 | g.16996139C>T | CA637223 | ATP13A2 | c.1379G>A (p.Arg460Gln) c.1364G>A (p.Arg455Gln) n.987G>A n.407G>A c.56G>A (p.Arg19Gln) c.521G>A (p.Arg174Gln) n.467G>A c.407G>A (p.Arg136Gln) c.1376G>A (p.Arg459Gln) c.1352G>A (p.Arg451Gln) c.1361G>A (p.Arg454Gln) c.1337G>A (p.Arg446Gln) c.1349G>A (p.Arg450Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16996140G>A | CA637224 | ATP13A2 | c.1378C>T (p.Arg460Trp) c.1363C>T (p.Arg455Trp) n.986C>T n.406C>T c.55C>T (p.Arg19Trp) c.520C>T (p.Arg174Trp) n.466C>T c.406C>T (p.Arg136Trp) c.1375C>T (p.Arg459Trp) c.1351C>T (p.Arg451Trp) c.1360C>T (p.Arg454Trp) c.1336C>T (p.Arg446Trp) c.1348C>T (p.Arg450Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16996140G>C | CA338252829 | ATP13A2 | c.1378C>G (p.Arg460Gly) c.1363C>G (p.Arg455Gly) n.986C>G n.406C>G c.55C>G (p.Arg19Gly) c.520C>G (p.Arg174Gly) n.466C>G c.406C>G (p.Arg136Gly) c.1375C>G (p.Arg459Gly) c.1351C>G (p.Arg451Gly) c.1360C>G (p.Arg454Gly) c.1336C>G (p.Arg446Gly) c.1348C>G (p.Arg450Gly) | |
1 | g.16996140G= | CA1143795645 | ATP13A2 | c.1378C= (p.Arg460=) c.1363C= (p.Arg455=) n.986C= n.406C= c.55C= (p.Arg19=) c.520C= (p.Arg174=) n.466C= c.406C= (p.Arg136=) c.1375C= (p.Arg459=) c.1351C= (p.Arg451=) c.1360C= (p.Arg454=) c.1336C= (p.Arg446=) c.1348C= (p.Arg450=) | |
1 | g.16996140G>T | CA416094544 | ATP13A2 | c.1378C>A (p.Arg460=) c.1363C>A (p.Arg455=) n.986C>A n.406C>A c.55C>A (p.Arg19=) c.520C>A (p.Arg174=) n.466C>A c.406C>A (p.Arg136=) c.1375C>A (p.Arg459=) c.1351C>A (p.Arg451=) c.1360C>A (p.Arg454=) c.1336C>A (p.Arg446=) c.1348C>A (p.Arg450=) | |
1 | g.16996141del | CA2580060620 | ATP13A2 | c.1378del (p.Arg460GlyfsTer6) c.1363del (p.Arg455GlyfsTer6) n.986del n.406del c.55del (p.Arg19GlyfsTer6) c.520del (p.Arg174GlyfsTer6) n.466del c.406del (p.Arg136GlyfsTer6) c.1375del (p.Arg459GlyfsTer6) c.1351del (p.Arg451GlyfsTer6) c.1360del (p.Arg454GlyfsTer6) c.1336del (p.Arg446GlyfsTer6) c.1348del (p.Arg450GlyfsTer6) | ClinVar |
1 | g.16996141G>A | CA416094545 | ATP13A2 | c.1377C>T (p.Ile459=) c.1362C>T (p.Ile454=) n.985C>T n.405C>T c.54C>T (p.Ile18=) c.519C>T (p.Ile173=) n.465C>T c.405C>T (p.Ile135=) c.1374C>T (p.Ile458=) c.1350C>T (p.Ile450=) c.1359C>T (p.Ile453=) c.1335C>T (p.Ile445=) c.1347C>T (p.Ile449=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.16996141G>C | CA338252830 | ATP13A2 | c.1377C>G (p.Ile459Met) c.1362C>G (p.Ile454Met) n.985C>G n.405C>G c.54C>G (p.Ile18Met) c.519C>G (p.Ile173Met) n.465C>G c.405C>G (p.Ile135Met) c.1374C>G (p.Ile458Met) c.1350C>G (p.Ile450Met) c.1359C>G (p.Ile453Met) c.1335C>G (p.Ile445Met) c.1347C>G (p.Ile449Met) | |
1 | g.16996141G= | CA1156030774 | ATP13A2 | c.1377C= (p.Ile459=) c.1362C= (p.Ile454=) n.985C= n.405C= c.54C= (p.Ile18=) c.519C= (p.Ile173=) n.465C= c.405C= (p.Ile135=) c.1374C= (p.Ile458=) c.1350C= (p.Ile450=) c.1359C= (p.Ile453=) c.1335C= (p.Ile445=) c.1347C= (p.Ile449=) | |
1 | g.16996141G>T | CA416094547 | ATP13A2 | c.1377C>A (p.Ile459=) c.1362C>A (p.Ile454=) n.985C>A n.405C>A c.54C>A (p.Ile18=) c.519C>A (p.Ile173=) n.465C>A c.405C>A (p.Ile135=) c.1374C>A (p.Ile458=) c.1350C>A (p.Ile450=) c.1359C>A (p.Ile453=) c.1335C>A (p.Ile445=) c.1347C>A (p.Ile449=) | |
1 | g.16996142A>C | CA338252831 | ATP13A2 | c.1376T>G (p.Ile459Ser) c.1361T>G (p.Ile454Ser) n.984T>G n.404T>G c.53T>G (p.Ile18Ser) c.518T>G (p.Ile173Ser) n.464T>G c.404T>G (p.Ile135Ser) c.1373T>G (p.Ile458Ser) c.1349T>G (p.Ile450Ser) c.1358T>G (p.Ile453Ser) c.1334T>G (p.Ile445Ser) c.1346T>G (p.Ile449Ser) | |
1 | g.16996142A>G | CA338252833 | ATP13A2 | c.1376T>C (p.Ile459Thr) c.1361T>C (p.Ile454Thr) n.984T>C n.404T>C c.53T>C (p.Ile18Thr) c.518T>C (p.Ile173Thr) n.464T>C c.404T>C (p.Ile135Thr) c.1373T>C (p.Ile458Thr) c.1349T>C (p.Ile450Thr) c.1358T>C (p.Ile453Thr) c.1334T>C (p.Ile445Thr) c.1346T>C (p.Ile449Thr) | dbSNP gnomAD v4 |
1 | g.16996142A>T | CA338252836 | ATP13A2 | c.1376T>A (p.Ile459Asn) c.1361T>A (p.Ile454Asn) n.984T>A n.404T>A c.53T>A (p.Ile18Asn) c.518T>A (p.Ile173Asn) n.464T>A c.404T>A (p.Ile135Asn) c.1373T>A (p.Ile458Asn) c.1349T>A (p.Ile450Asn) c.1358T>A (p.Ile453Asn) c.1334T>A (p.Ile445Asn) c.1346T>A (p.Ile449Asn) | |
1 | g.16996143T>A | CA338252847 | ATP13A2 | c.1375A>T (p.Ile459Phe) c.1360A>T (p.Ile454Phe) n.983A>T n.403A>T c.52A>T (p.Ile18Phe) c.517A>T (p.Ile173Phe) n.463A>T c.403A>T (p.Ile135Phe) c.1372A>T (p.Ile458Phe) c.1348A>T (p.Ile450Phe) c.1357A>T (p.Ile453Phe) c.1333A>T (p.Ile445Phe) c.1345A>T (p.Ile449Phe) | |
1 | g.16996143T>C | CA338252839 | ATP13A2 | c.1375A>G (p.Ile459Val) c.1360A>G (p.Ile454Val) n.983A>G n.403A>G c.52A>G (p.Ile18Val) c.517A>G (p.Ile173Val) n.463A>G c.403A>G (p.Ile135Val) c.1372A>G (p.Ile458Val) c.1348A>G (p.Ile450Val) c.1357A>G (p.Ile453Val) c.1333A>G (p.Ile445Val) c.1345A>G (p.Ile449Val) | |
1 | g.16996143T>G | CA338252842 | ATP13A2 | c.1375A>C (p.Ile459Leu) c.1360A>C (p.Ile454Leu) n.983A>C n.403A>C c.52A>C (p.Ile18Leu) c.517A>C (p.Ile173Leu) n.463A>C c.403A>C (p.Ile135Leu) c.1372A>C (p.Ile458Leu) c.1348A>C (p.Ile450Leu) c.1357A>C (p.Ile453Leu) c.1333A>C (p.Ile445Leu) c.1345A>C (p.Ile449Leu) | |
1 | g.16996144T>A | CA416094548 | ATP13A2 | c.1374A>T (p.Val458=) c.1359A>T (p.Val453=) n.982A>T n.402A>T c.51A>T (p.Val17=) c.516A>T (p.Val172=) n.462A>T c.402A>T (p.Val134=) c.1371A>T (p.Val457=) c.1347A>T (p.Val449=) c.1356A>T (p.Val452=) c.1332A>T (p.Val444=) c.1344A>T (p.Val448=) | |
1 | g.16996144T>C | CA416094549 | ATP13A2 | c.1374A>G (p.Val458=) c.1359A>G (p.Val453=) n.982A>G n.402A>G c.51A>G (p.Val17=) c.516A>G (p.Val172=) n.462A>G c.402A>G (p.Val134=) c.1371A>G (p.Val457=) c.1347A>G (p.Val449=) c.1356A>G (p.Val452=) c.1332A>G (p.Val444=) c.1344A>G (p.Val448=) | dbSNP |
1 | g.16996144T>G | CA416094550 | ATP13A2 | c.1374A>C (p.Val458=) c.1359A>C (p.Val453=) n.982A>C n.402A>C c.51A>C (p.Val17=) c.516A>C (p.Val172=) n.462A>C c.402A>C (p.Val134=) c.1371A>C (p.Val457=) c.1347A>C (p.Val449=) c.1356A>C (p.Val452=) c.1332A>C (p.Val444=) c.1344A>C (p.Val448=) | |
1 | g.16996145A>C | CA338252852 | ATP13A2 | c.1373T>G (p.Val458Gly) c.1358T>G (p.Val453Gly) n.981T>G n.401T>G c.50T>G (p.Val17Gly) c.515T>G (p.Val172Gly) n.461T>G c.401T>G (p.Val134Gly) c.1370T>G (p.Val457Gly) c.1346T>G (p.Val449Gly) c.1355T>G (p.Val452Gly) c.1331T>G (p.Val444Gly) c.1343T>G (p.Val448Gly) | |
1 | g.16996145A>G | CA338252855 | ATP13A2 | c.1373T>C (p.Val458Ala) c.1358T>C (p.Val453Ala) n.981T>C n.401T>C c.50T>C (p.Val17Ala) c.515T>C (p.Val172Ala) n.461T>C c.401T>C (p.Val134Ala) c.1370T>C (p.Val457Ala) c.1346T>C (p.Val449Ala) c.1355T>C (p.Val452Ala) c.1331T>C (p.Val444Ala) c.1343T>C (p.Val448Ala) | |
1 | g.16996145A>T | CA338252857 | ATP13A2 | c.1373T>A (p.Val458Glu) c.1358T>A (p.Val453Glu) n.981T>A n.401T>A c.50T>A (p.Val17Glu) c.515T>A (p.Val172Glu) n.461T>A c.401T>A (p.Val134Glu) c.1370T>A (p.Val457Glu) c.1346T>A (p.Val449Glu) c.1355T>A (p.Val452Glu) c.1331T>A (p.Val444Glu) c.1343T>A (p.Val448Glu) | gnomAD v4 |