Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.16996397_16996398delCA2580611142ATP13A2c.1298_1299del (p.Ser433CysfsTer23)
c.1283_1284del (p.Ser428CysfsTer23)
n.906_907del
n.335-94_335-93del
c.440_441del (p.Ser147CysfsTer23)
n.301_302del
c.335-94_335-93del (n.335-94_335-93del)
c.1295_1296del (p.Ser432CysfsTer23)
c.1271_1272del (p.Ser424CysfsTer23)
c.1280_1281del (p.Ser427CysfsTer23)
c.1256_1257del (p.Ser419CysfsTer23)
c.1268_1269del (p.Ser423CysfsTer23)
 ClinVar
1g.16996397A=CA1156031466ATP13A2c.1295T= (p.Leu432=)
c.1280T= (p.Leu427=)
n.903T=
n.335-97T=
c.437T= (p.Leu146=)
n.298T=
c.335-97T= (n.335-97T=)
c.1292T= (p.Leu431=)
c.1268T= (p.Leu423=)
c.1277T= (p.Leu426=)
c.1253T= (p.Leu418=)
c.1265T= (p.Leu422=)
1g.16996397A>CCA338254238ATP13A2c.1295T>G (p.Leu432Arg)
c.1280T>G (p.Leu427Arg)
n.903T>G
n.335-97T>G
c.437T>G (p.Leu146Arg)
n.298T>G
c.335-97T>G (n.335-97T>G)
c.1292T>G (p.Leu431Arg)
c.1268T>G (p.Leu423Arg)
c.1277T>G (p.Leu426Arg)
c.1253T>G (p.Leu418Arg)
c.1265T>G (p.Leu422Arg)
1g.16996397A>GCA637300ATP13A2c.1295T>C (p.Leu432Pro)
c.1280T>C (p.Leu427Pro)
n.903T>C
n.335-97T>C
c.437T>C (p.Leu146Pro)
n.298T>C
c.335-97T>C (n.335-97T>C)
c.1292T>C (p.Leu431Pro)
c.1268T>C (p.Leu423Pro)
c.1277T>C (p.Leu426Pro)
c.1253T>C (p.Leu418Pro)
c.1265T>C (p.Leu422Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996397A>TCA338254241ATP13A2c.1295T>A (p.Leu432His)
c.1280T>A (p.Leu427His)
n.903T>A
n.335-97T>A
c.437T>A (p.Leu146His)
n.298T>A
c.335-97T>A (n.335-97T>A)
c.1292T>A (p.Leu431His)
c.1268T>A (p.Leu423His)
c.1277T>A (p.Leu426His)
c.1253T>A (p.Leu418His)
c.1265T>A (p.Leu422His)
1g.16996398G>ACA338254245ATP13A2c.1294C>T (p.Leu432Phe)
c.1279C>T (p.Leu427Phe)
n.902C>T
n.335-98C>T
c.436C>T (p.Leu146Phe)
n.297C>T
c.335-98C>T (n.335-98C>T)
c.1291C>T (p.Leu431Phe)
c.1267C>T (p.Leu423Phe)
c.1276C>T (p.Leu426Phe)
c.1252C>T (p.Leu418Phe)
c.1264C>T (p.Leu422Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.16996398G>CCA338254247ATP13A2c.1294C>G (p.Leu432Val)
c.1279C>G (p.Leu427Val)
n.902C>G
n.335-98C>G
c.436C>G (p.Leu146Val)
n.297C>G
c.335-98C>G (n.335-98C>G)
c.1291C>G (p.Leu431Val)
c.1267C>G (p.Leu423Val)
c.1276C>G (p.Leu426Val)
c.1252C>G (p.Leu418Val)
c.1264C>G (p.Leu422Val)
1g.16996398G=CA1156031469ATP13A2c.1294C= (p.Leu432=)
c.1279C= (p.Leu427=)
n.902C=
n.335-98C=
c.436C= (p.Leu146=)
n.297C=
c.335-98C= (n.335-98C=)
c.1291C= (p.Leu431=)
c.1267C= (p.Leu423=)
c.1276C= (p.Leu426=)
c.1252C= (p.Leu418=)
c.1264C= (p.Leu422=)
1g.16996398G>TCA338254249ATP13A2c.1294C>A (p.Leu432Ile)
c.1279C>A (p.Leu427Ile)
n.902C>A
n.335-98C>A
c.436C>A (p.Leu146Ile)
n.297C>A
c.335-98C>A (n.335-98C>A)
c.1291C>A (p.Leu431Ile)
c.1267C>A (p.Leu423Ile)
c.1276C>A (p.Leu426Ile)
c.1252C>A (p.Leu418Ile)
c.1264C>A (p.Leu422Ile)
 dbSNP
1g.16996399G>ACA416061720ATP13A2c.1293C>T (p.Ala431=)
c.1278C>T (p.Ala426=)
n.901C>T
n.335-99C>T
c.435C>T (p.Ala145=)
n.296C>T
c.335-99C>T (n.335-99C>T)
c.1290C>T (p.Ala430=)
c.1266C>T (p.Ala422=)
c.1275C>T (p.Ala425=)
c.1251C>T (p.Ala417=)
c.1263C>T (p.Ala421=)
 gnomAD v4
1g.16996399G>CCA416061723ATP13A2c.1293C>G (p.Ala431=)
c.1278C>G (p.Ala426=)
n.901C>G
n.335-99C>G
c.435C>G (p.Ala145=)
n.296C>G
c.335-99C>G (n.335-99C>G)
c.1290C>G (p.Ala430=)
c.1266C>G (p.Ala422=)
c.1275C>G (p.Ala425=)
c.1251C>G (p.Ala417=)
c.1263C>G (p.Ala421=)
1g.16996399G>TCA416061722ATP13A2c.1293C>A (p.Ala431=)
c.1278C>A (p.Ala426=)
n.901C>A
n.335-99C>A
c.435C>A (p.Ala145=)
n.296C>A
c.335-99C>A (n.335-99C>A)
c.1290C>A (p.Ala430=)
c.1266C>A (p.Ala422=)
c.1275C>A (p.Ala425=)
c.1251C>A (p.Ala417=)
c.1263C>A (p.Ala421=)
1g.16996400G>ACA338254251ATP13A2c.1292C>T (p.Ala431Val)
c.1277C>T (p.Ala426Val)
n.900C>T
n.335-100C>T
c.434C>T (p.Ala145Val)
n.295C>T
c.335-100C>T (n.335-100C>T)
c.1289C>T (p.Ala430Val)
c.1265C>T (p.Ala422Val)
c.1274C>T (p.Ala425Val)
c.1250C>T (p.Ala417Val)
c.1262C>T (p.Ala421Val)
 gnomAD v4
1g.16996400G>CCA637301ATP13A2c.1292C>G (p.Ala431Gly)
c.1277C>G (p.Ala426Gly)
n.900C>G
n.335-100C>G
c.434C>G (p.Ala145Gly)
n.295C>G
c.335-100C>G (n.335-100C>G)
c.1289C>G (p.Ala430Gly)
c.1265C>G (p.Ala422Gly)
c.1274C>G (p.Ala425Gly)
c.1250C>G (p.Ala417Gly)
c.1262C>G (p.Ala421Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996400G=CA1148267905ATP13A2c.1292C= (p.Ala431=)
c.1277C= (p.Ala426=)
n.900C=
n.335-100C=
c.434C= (p.Ala145=)
n.295C=
c.335-100C= (n.335-100C=)
c.1289C= (p.Ala430=)
c.1265C= (p.Ala422=)
c.1274C= (p.Ala425=)
c.1250C= (p.Ala417=)
c.1262C= (p.Ala421=)
1g.16996400G>TCA338254254ATP13A2c.1292C>A (p.Ala431Asp)
c.1277C>A (p.Ala426Asp)
n.900C>A
n.335-100C>A
c.434C>A (p.Ala145Asp)
n.295C>A
c.335-100C>A (n.335-100C>A)
c.1289C>A (p.Ala430Asp)
c.1265C>A (p.Ala422Asp)
c.1274C>A (p.Ala425Asp)
c.1250C>A (p.Ala417Asp)
c.1262C>A (p.Ala421Asp)
1g.16996401C>ACA338254257ATP13A2c.1291G>T (p.Ala431Ser)
c.1276G>T (p.Ala426Ser)
n.899G>T
n.335-101G>T
c.433G>T (p.Ala145Ser)
n.294G>T
c.335-101G>T (n.335-101G>T)
c.1288G>T (p.Ala430Ser)
c.1264G>T (p.Ala422Ser)
c.1273G>T (p.Ala425Ser)
c.1249G>T (p.Ala417Ser)
c.1261G>T (p.Ala421Ser)
 dbSNP
1g.16996401C=CA1156031474ATP13A2c.1291G= (p.Ala431=)
c.1276G= (p.Ala426=)
n.899G=
n.335-101G=
c.433G= (p.Ala145=)
n.294G=
c.335-101G= (n.335-101G=)
c.1288G= (p.Ala430=)
c.1264G= (p.Ala422=)
c.1273G= (p.Ala425=)
c.1249G= (p.Ala417=)
c.1261G= (p.Ala421=)
1g.16996401C>GCA338254262ATP13A2c.1291G>C (p.Ala431Pro)
c.1276G>C (p.Ala426Pro)
n.899G>C
n.335-101G>C
c.433G>C (p.Ala145Pro)
n.294G>C
c.335-101G>C (n.335-101G>C)
c.1288G>C (p.Ala430Pro)
c.1264G>C (p.Ala422Pro)
c.1273G>C (p.Ala425Pro)
c.1249G>C (p.Ala417Pro)
c.1261G>C (p.Ala421Pro)
1g.16996401C>TCA18637504ATP13A2c.1291G>A (p.Ala431Thr)
c.1276G>A (p.Ala426Thr)
n.899G>A
n.335-101G>A
c.433G>A (p.Ala145Thr)
n.294G>A
c.335-101G>A (n.335-101G>A)
c.1288G>A (p.Ala430Thr)
c.1264G>A (p.Ala422Thr)
c.1273G>A (p.Ala425Thr)
c.1249G>A (p.Ala417Thr)
c.1261G>A (p.Ala421Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.16996402A>CCA416061733ATP13A2c.1290T>G (p.Ala430=)
c.1275T>G (p.Ala425=)
n.898T>G
n.335-102T>G
c.432T>G (p.Ala144=)
n.293T>G
c.335-102T>G (n.335-102T>G)
c.1287T>G (p.Ala429=)
c.1263T>G (p.Ala421=)
c.1272T>G (p.Ala424=)
c.1248T>G (p.Ala416=)
c.1260T>G (p.Ala420=)
1g.16996402A>GCA416061740ATP13A2c.1290T>C (p.Ala430=)
c.1275T>C (p.Ala425=)
n.898T>C
n.335-102T>C
c.432T>C (p.Ala144=)
n.293T>C
c.335-102T>C (n.335-102T>C)
c.1287T>C (p.Ala429=)
c.1263T>C (p.Ala421=)
c.1272T>C (p.Ala424=)
c.1248T>C (p.Ala416=)
c.1260T>C (p.Ala420=)
1g.16996402A>TCA416061741ATP13A2c.1290T>A (p.Ala430=)
c.1275T>A (p.Ala425=)
n.898T>A
n.335-102T>A
c.432T>A (p.Ala144=)
n.293T>A
c.335-102T>A (n.335-102T>A)
c.1287T>A (p.Ala429=)
c.1263T>A (p.Ala421=)
c.1272T>A (p.Ala424=)
c.1248T>A (p.Ala416=)
c.1260T>A (p.Ala420=)
1g.16996403G>ACA338254267ATP13A2c.1289C>T (p.Ala430Val)
c.1274C>T (p.Ala425Val)
n.897C>T
n.335-103C>T
c.431C>T (p.Ala144Val)
n.292C>T
c.335-103C>T (n.335-103C>T)
c.1286C>T (p.Ala429Val)
c.1262C>T (p.Ala421Val)
c.1271C>T (p.Ala424Val)
c.1247C>T (p.Ala416Val)
c.1259C>T (p.Ala420Val)
 gnomAD v4
1g.16996403G>CCA338254279ATP13A2c.1289C>G (p.Ala430Gly)
c.1274C>G (p.Ala425Gly)
n.897C>G
n.335-103C>G
c.431C>G (p.Ala144Gly)
n.292C>G
c.335-103C>G (n.335-103C>G)
c.1286C>G (p.Ala429Gly)
c.1262C>G (p.Ala421Gly)
c.1271C>G (p.Ala424Gly)
c.1247C>G (p.Ala416Gly)
c.1259C>G (p.Ala420Gly)
1g.16996403G>TCA338254282ATP13A2c.1289C>A (p.Ala430Asp)
c.1274C>A (p.Ala425Asp)
n.897C>A
n.335-103C>A
c.431C>A (p.Ala144Asp)
n.292C>A
c.335-103C>A (n.335-103C>A)
c.1286C>A (p.Ala429Asp)
c.1262C>A (p.Ala421Asp)
c.1271C>A (p.Ala424Asp)
c.1247C>A (p.Ala416Asp)
c.1259C>A (p.Ala420Asp)
1g.16996404C>ACA338254290ATP13A2c.1288G>T (p.Ala430Ser)
c.1273G>T (p.Ala425Ser)
n.896G>T
n.335-104G>T
c.430G>T (p.Ala144Ser)
n.291G>T
c.335-104G>T (n.335-104G>T)
c.1285G>T (p.Ala429Ser)
c.1261G>T (p.Ala421Ser)
c.1270G>T (p.Ala424Ser)
c.1246G>T (p.Ala416Ser)
c.1258G>T (p.Ala420Ser)
1g.16996404C>GCA338254286ATP13A2c.1288G>C (p.Ala430Pro)
c.1273G>C (p.Ala425Pro)
n.896G>C
n.335-104G>C
c.430G>C (p.Ala144Pro)
n.291G>C
c.335-104G>C (n.335-104G>C)
c.1285G>C (p.Ala429Pro)
c.1261G>C (p.Ala421Pro)
c.1270G>C (p.Ala424Pro)
c.1246G>C (p.Ala416Pro)
c.1258G>C (p.Ala420Pro)
1g.16996404C>TCA338254288ATP13A2c.1288G>A (p.Ala430Thr)
c.1273G>A (p.Ala425Thr)
n.896G>A
n.335-104G>A
c.430G>A (p.Ala144Thr)
n.291G>A
c.335-104G>A (n.335-104G>A)
c.1285G>A (p.Ala429Thr)
c.1261G>A (p.Ala421Thr)
c.1270G>A (p.Ala424Thr)
c.1246G>A (p.Ala416Thr)
c.1258G>A (p.Ala420Thr)
1g.16996405C>ACA416061751ATP13A2c.1287G>T (p.Val429=)
c.1272G>T (p.Val424=)
n.895G>T
n.335-105G>T
c.429G>T (p.Val143=)
n.290G>T
c.335-105G>T (n.335-105G>T)
c.1284G>T (p.Val428=)
c.1260G>T (p.Val420=)
c.1269G>T (p.Val423=)
c.1245G>T (p.Val415=)
c.1257G>T (p.Val419=)
1g.16996405C>GCA416061753ATP13A2c.1287G>C (p.Val429=)
c.1272G>C (p.Val424=)
n.895G>C
n.335-105G>C
c.429G>C (p.Val143=)
n.290G>C
c.335-105G>C (n.335-105G>C)
c.1284G>C (p.Val428=)
c.1260G>C (p.Val420=)
c.1269G>C (p.Val423=)
c.1245G>C (p.Val415=)
c.1257G>C (p.Val419=)
1g.16996405C>TCA416061755ATP13A2c.1287G>A (p.Val429=)
c.1272G>A (p.Val424=)
n.895G>A
n.335-105G>A
c.429G>A (p.Val143=)
n.290G>A
c.335-105G>A (n.335-105G>A)
c.1284G>A (p.Val428=)
c.1260G>A (p.Val420=)
c.1269G>A (p.Val423=)
c.1245G>A (p.Val415=)
c.1257G>A (p.Val419=)
1g.16996406A>CCA338254294ATP13A2c.1286T>G (p.Val429Gly)
c.1271T>G (p.Val424Gly)
n.894T>G
n.335-106T>G
c.428T>G (p.Val143Gly)
n.289T>G
c.335-106T>G (n.335-106T>G)
c.1283T>G (p.Val428Gly)
c.1259T>G (p.Val420Gly)
c.1268T>G (p.Val423Gly)
c.1244T>G (p.Val415Gly)
c.1256T>G (p.Val419Gly)
1g.16996406A>GCA338254297ATP13A2c.1286T>C (p.Val429Ala)
c.1271T>C (p.Val424Ala)
n.894T>C
n.335-106T>C
c.428T>C (p.Val143Ala)
n.289T>C
c.335-106T>C (n.335-106T>C)
c.1283T>C (p.Val428Ala)
c.1259T>C (p.Val420Ala)
c.1268T>C (p.Val423Ala)
c.1244T>C (p.Val415Ala)
c.1256T>C (p.Val419Ala)
1g.16996406A>TCA338254300ATP13A2c.1286T>A (p.Val429Glu)
c.1271T>A (p.Val424Glu)
n.894T>A
n.335-106T>A
c.428T>A (p.Val143Glu)
n.289T>A
c.335-106T>A (n.335-106T>A)
c.1283T>A (p.Val428Glu)
c.1259T>A (p.Val420Glu)
c.1268T>A (p.Val423Glu)
c.1244T>A (p.Val415Glu)
c.1256T>A (p.Val419Glu)
1g.16996407C>ACA338254303ATP13A2c.1285G>T (p.Val429Leu)
c.1270G>T (p.Val424Leu)
n.893G>T
n.335-107G>T
c.427G>T (p.Val143Leu)
n.288G>T
c.335-107G>T (n.335-107G>T)
c.1282G>T (p.Val428Leu)
c.1258G>T (p.Val420Leu)
c.1267G>T (p.Val423Leu)
c.1243G>T (p.Val415Leu)
c.1255G>T (p.Val419Leu)
1g.16996407C>GCA338254316ATP13A2c.1285G>C (p.Val429Leu)
c.1270G>C (p.Val424Leu)
n.893G>C
n.335-107G>C
c.427G>C (p.Val143Leu)
n.288G>C
c.335-107G>C (n.335-107G>C)
c.1282G>C (p.Val428Leu)
c.1258G>C (p.Val420Leu)
c.1267G>C (p.Val423Leu)
c.1243G>C (p.Val415Leu)
c.1255G>C (p.Val419Leu)
1g.16996407C>TCA338254318ATP13A2c.1285G>A (p.Val429Met)
c.1270G>A (p.Val424Met)
n.893G>A
n.335-107G>A
c.427G>A (p.Val143Met)
n.288G>A
c.335-107G>A (n.335-107G>A)
c.1282G>A (p.Val428Met)
c.1258G>A (p.Val420Met)
c.1267G>A (p.Val423Met)
c.1243G>A (p.Val415Met)
c.1255G>A (p.Val419Met)
1g.16996408A>CCA338254323ATP13A2c.1284T>G (p.Phe428Leu)
c.1269T>G (p.Phe423Leu)
n.892T>G
n.335-108T>G
c.426T>G (p.Phe142Leu)
n.287T>G
c.335-108T>G (n.335-108T>G)
c.1281T>G (p.Phe427Leu)
c.1257T>G (p.Phe419Leu)
c.1266T>G (p.Phe422Leu)
c.1242T>G (p.Phe414Leu)
c.1254T>G (p.Phe418Leu)
1g.16996408A>GCA416061764ATP13A2c.1284T>C (p.Phe428=)
c.1269T>C (p.Phe423=)
n.892T>C
n.335-108T>C
c.426T>C (p.Phe142=)
n.287T>C
c.335-108T>C (n.335-108T>C)
c.1281T>C (p.Phe427=)
c.1257T>C (p.Phe419=)
c.1266T>C (p.Phe422=)
c.1242T>C (p.Phe414=)
c.1254T>C (p.Phe418=)
1g.16996408A>TCA338254329ATP13A2c.1284T>A (p.Phe428Leu)
c.1269T>A (p.Phe423Leu)
n.892T>A
n.335-108T>A
c.426T>A (p.Phe142Leu)
n.287T>A
c.335-108T>A (n.335-108T>A)
c.1281T>A (p.Phe427Leu)
c.1257T>A (p.Phe419Leu)
c.1266T>A (p.Phe422Leu)
c.1242T>A (p.Phe414Leu)
c.1254T>A (p.Phe418Leu)
1g.16996410delCA2643673985ATP13A2c.1284del (p.Phe428LeufsTer27)
c.1269del (p.Phe423LeufsTer27)
n.892del
n.335-108del
c.426del (p.Phe142LeufsTer27)
n.287del
c.335-108del (n.335-108del)
c.1281del (p.Phe427LeufsTer27)
c.1257del (p.Phe419LeufsTer27)
c.1266del (p.Phe422LeufsTer27)
c.1242del (p.Phe414LeufsTer27)
c.1254del (p.Phe418LeufsTer27)
 gnomAD v4
1g.16996409A>CCA338254331ATP13A2c.1283T>G (p.Phe428Cys)
c.1268T>G (p.Phe423Cys)
n.891T>G
n.335-109T>G
c.425T>G (p.Phe142Cys)
n.286T>G
c.335-109T>G (n.335-109T>G)
c.1280T>G (p.Phe427Cys)
c.1256T>G (p.Phe419Cys)
c.1265T>G (p.Phe422Cys)
c.1241T>G (p.Phe414Cys)
c.1253T>G (p.Phe418Cys)
1g.16996409A>GCA338254334ATP13A2c.1283T>C (p.Phe428Ser)
c.1268T>C (p.Phe423Ser)
n.891T>C
n.335-109T>C
c.425T>C (p.Phe142Ser)
n.286T>C
c.335-109T>C (n.335-109T>C)
c.1280T>C (p.Phe427Ser)
c.1256T>C (p.Phe419Ser)
c.1265T>C (p.Phe422Ser)
c.1241T>C (p.Phe414Ser)
c.1253T>C (p.Phe418Ser)
1g.16996409A>TCA338254336ATP13A2c.1283T>A (p.Phe428Tyr)
c.1268T>A (p.Phe423Tyr)
n.891T>A
n.335-109T>A
c.425T>A (p.Phe142Tyr)
n.286T>A
c.335-109T>A (n.335-109T>A)
c.1280T>A (p.Phe427Tyr)
c.1256T>A (p.Phe419Tyr)
c.1265T>A (p.Phe422Tyr)
c.1241T>A (p.Phe414Tyr)
c.1253T>A (p.Phe418Tyr)
1g.16996410A>CCA338254340ATP13A2c.1282T>G (p.Phe428Val)
c.1267T>G (p.Phe423Val)
n.890T>G
n.335-110T>G
c.424T>G (p.Phe142Val)
n.285T>G
c.335-110T>G (n.335-110T>G)
c.1279T>G (p.Phe427Val)
c.1255T>G (p.Phe419Val)
c.1264T>G (p.Phe422Val)
c.1240T>G (p.Phe414Val)
c.1252T>G (p.Phe418Val)
1g.16996410A>GCA338254343ATP13A2c.1282T>C (p.Phe428Leu)
c.1267T>C (p.Phe423Leu)
n.890T>C
n.335-110T>C
c.424T>C (p.Phe142Leu)
n.285T>C
c.335-110T>C (n.335-110T>C)
c.1279T>C (p.Phe427Leu)
c.1255T>C (p.Phe419Leu)
c.1264T>C (p.Phe422Leu)
c.1240T>C (p.Phe414Leu)
c.1252T>C (p.Phe418Leu)
1g.16996410A>TCA338254337ATP13A2c.1282T>A (p.Phe428Ile)
c.1267T>A (p.Phe423Ile)
n.890T>A
n.335-110T>A
c.424T>A (p.Phe142Ile)
n.285T>A
c.335-110T>A (n.335-110T>A)
c.1279T>A (p.Phe427Ile)
c.1255T>A (p.Phe419Ile)
c.1264T>A (p.Phe422Ile)
c.1240T>A (p.Phe414Ile)
c.1252T>A (p.Phe418Ile)
1g.16996411C>ACA338254345ATP13A2c.1281G>T (p.Lys427Asn)
c.1266G>T (p.Lys422Asn)
n.889G>T
n.335-111G>T
c.423G>T (p.Lys141Asn)
n.284G>T
c.335-111G>T (n.335-111G>T)
c.1278G>T (p.Lys426Asn)
c.1254G>T (p.Lys418Asn)
c.1263G>T (p.Lys421Asn)
c.1239G>T (p.Lys413Asn)
c.1251G>T (p.Lys417Asn)
1g.16996411C=CA1156031478ATP13A2c.1281G= (p.Lys427=)
c.1266G= (p.Lys422=)
n.889G=
n.335-111G=
c.423G= (p.Lys141=)
n.284G=
c.335-111G= (n.335-111G=)
c.1278G= (p.Lys426=)
c.1254G= (p.Lys418=)
c.1263G= (p.Lys421=)
c.1239G= (p.Lys413=)
c.1251G= (p.Lys417=)
1g.16996411C>GCA338254348ATP13A2c.1281G>C (p.Lys427Asn)
c.1266G>C (p.Lys422Asn)
n.889G>C
n.335-111G>C
c.423G>C (p.Lys141Asn)
n.284G>C
c.335-111G>C (n.335-111G>C)
c.1278G>C (p.Lys426Asn)
c.1254G>C (p.Lys418Asn)
c.1263G>C (p.Lys421Asn)
c.1239G>C (p.Lys413Asn)
c.1251G>C (p.Lys417Asn)
1g.16996411C>TCA18637505ATP13A2c.1281G>A (p.Lys427=)
c.1266G>A (p.Lys422=)
n.889G>A
n.335-111G>A
c.423G>A (p.Lys141=)
n.284G>A
c.335-111G>A (n.335-111G>A)
c.1278G>A (p.Lys426=)
c.1254G>A (p.Lys418=)
c.1263G>A (p.Lys421=)
c.1239G>A (p.Lys413=)
c.1251G>A (p.Lys417=)
 ClinVar dbSNP gnomAD v4
1g.16996412T>ACA338254352ATP13A2c.1280A>T (p.Lys427Met)
c.1265A>T (p.Lys422Met)
n.888A>T
n.335-112A>T
c.422A>T (p.Lys141Met)
n.283A>T
c.335-112A>T (n.335-112A>T)
c.1277A>T (p.Lys426Met)
c.1253A>T (p.Lys418Met)
c.1262A>T (p.Lys421Met)
c.1238A>T (p.Lys413Met)
c.1250A>T (p.Lys417Met)
1g.16996412T>CCA338254355ATP13A2c.1280A>G (p.Lys427Arg)
c.1265A>G (p.Lys422Arg)
n.888A>G
n.335-112A>G
c.422A>G (p.Lys141Arg)
n.283A>G
c.335-112A>G (n.335-112A>G)
c.1277A>G (p.Lys426Arg)
c.1253A>G (p.Lys418Arg)
c.1262A>G (p.Lys421Arg)
c.1238A>G (p.Lys413Arg)
c.1250A>G (p.Lys417Arg)
 gnomAD v4
1g.16996412T>GCA338254358ATP13A2c.1280A>C (p.Lys427Thr)
c.1265A>C (p.Lys422Thr)
n.888A>C
n.335-112A>C
c.422A>C (p.Lys141Thr)
n.283A>C
c.335-112A>C (n.335-112A>C)
c.1277A>C (p.Lys426Thr)
c.1253A>C (p.Lys418Thr)
c.1262A>C (p.Lys421Thr)
c.1238A>C (p.Lys413Thr)
c.1250A>C (p.Lys417Thr)
 gnomAD v4
1g.16996413T>ACA338254374ATP13A2c.1279A>T (p.Lys427Ter)
c.1264A>T (p.Lys422Ter)
n.887A>T
n.335-113A>T
c.421A>T (p.Lys141Ter)
n.282A>T
c.335-113A>T (n.335-113A>T)
c.1276A>T (p.Lys426Ter)
c.1252A>T (p.Lys418Ter)
c.1261A>T (p.Lys421Ter)
c.1237A>T (p.Lys413Ter)
c.1249A>T (p.Lys417Ter)
1g.16996413T>CCA338254367ATP13A2c.1279A>G (p.Lys427Glu)
c.1264A>G (p.Lys422Glu)
n.887A>G
n.335-113A>G
c.421A>G (p.Lys141Glu)
n.282A>G
c.335-113A>G (n.335-113A>G)
c.1276A>G (p.Lys426Glu)
c.1252A>G (p.Lys418Glu)
c.1261A>G (p.Lys421Glu)
c.1237A>G (p.Lys413Glu)
c.1249A>G (p.Lys417Glu)
 ClinVar dbSNP
1g.16996413T>GCA338254364ATP13A2c.1279A>C (p.Lys427Gln)
c.1264A>C (p.Lys422Gln)
n.887A>C
n.335-113A>C
c.421A>C (p.Lys141Gln)
n.282A>C
c.335-113A>C (n.335-113A>C)
c.1276A>C (p.Lys426Gln)
c.1252A>C (p.Lys418Gln)
c.1261A>C (p.Lys421Gln)
c.1237A>C (p.Lys413Gln)
c.1249A>C (p.Lys417Gln)
1g.16996413T=CA1156031484ATP13A2c.1279A= (p.Lys427=)
c.1264A= (p.Lys422=)
n.887A=
n.335-113A=
c.421A= (p.Lys141=)
n.282A=
c.335-113A= (n.335-113A=)
c.1276A= (p.Lys426=)
c.1252A= (p.Lys418=)
c.1261A= (p.Lys421=)
c.1237A= (p.Lys413=)
c.1249A= (p.Lys417=)
1g.16996414C>ACA338254375ATP13A2c.1278G>T (p.Met426Ile)
c.1263G>T (p.Met421Ile)
n.886G>T
n.335-114G>T
c.420G>T (p.Met140Ile)
n.281G>T
c.335-114G>T (n.335-114G>T)
c.1275G>T (p.Met425Ile)
c.1251G>T (p.Met417Ile)
c.1260G>T (p.Met420Ile)
c.1236G>T (p.Met412Ile)
c.1248G>T (p.Met416Ile)
1g.16996414C>GCA338254378ATP13A2c.1278G>C (p.Met426Ile)
c.1263G>C (p.Met421Ile)
n.886G>C
n.335-114G>C
c.420G>C (p.Met140Ile)
n.281G>C
c.335-114G>C (n.335-114G>C)
c.1275G>C (p.Met425Ile)
c.1251G>C (p.Met417Ile)
c.1260G>C (p.Met420Ile)
c.1236G>C (p.Met412Ile)
c.1248G>C (p.Met416Ile)
1g.16996414C>TCA338254381ATP13A2c.1278G>A (p.Met426Ile)
c.1263G>A (p.Met421Ile)
n.886G>A
n.335-114G>A
c.420G>A (p.Met140Ile)
n.281G>A
c.335-114G>A (n.335-114G>A)
c.1275G>A (p.Met425Ile)
c.1251G>A (p.Met417Ile)
c.1260G>A (p.Met420Ile)
c.1236G>A (p.Met412Ile)
c.1248G>A (p.Met416Ile)
1g.16996415A=CA1156031492ATP13A2c.1277T= (p.Met426=)
c.1262T= (p.Met421=)
n.885T=
n.335-115T=
c.419T= (p.Met140=)
n.280T=
c.335-115T= (n.335-115T=)
c.1274T= (p.Met425=)
c.1250T= (p.Met417=)
c.1259T= (p.Met420=)
c.1235T= (p.Met412=)
c.1247T= (p.Met416=)
1g.16996415A>CCA338254386ATP13A2c.1277T>G (p.Met426Arg)
c.1262T>G (p.Met421Arg)
n.885T>G
n.335-115T>G
c.419T>G (p.Met140Arg)
n.280T>G
c.335-115T>G (n.335-115T>G)
c.1274T>G (p.Met425Arg)
c.1250T>G (p.Met417Arg)
c.1259T>G (p.Met420Arg)
c.1235T>G (p.Met412Arg)
c.1247T>G (p.Met416Arg)
1g.16996415A>GCA338254389ATP13A2c.1277T>C (p.Met426Thr)
c.1262T>C (p.Met421Thr)
n.885T>C
n.335-115T>C
c.419T>C (p.Met140Thr)
n.280T>C
c.335-115T>C (n.335-115T>C)
c.1274T>C (p.Met425Thr)
c.1250T>C (p.Met417Thr)
c.1259T>C (p.Met420Thr)
c.1235T>C (p.Met412Thr)
c.1247T>C (p.Met416Thr)
 dbSNP
1g.16996415A>TCA338254392ATP13A2c.1277T>A (p.Met426Lys)
c.1262T>A (p.Met421Lys)
n.885T>A
n.335-115T>A
c.419T>A (p.Met140Lys)
n.280T>A
c.335-115T>A (n.335-115T>A)
c.1274T>A (p.Met425Lys)
c.1250T>A (p.Met417Lys)
c.1259T>A (p.Met420Lys)
c.1235T>A (p.Met412Lys)
c.1247T>A (p.Met416Lys)
1g.16996416T>ACA338254394ATP13A2c.1276A>T (p.Met426Leu)
c.1261A>T (p.Met421Leu)
n.884A>T
n.335-116A>T
c.418A>T (p.Met140Leu)
n.279A>T
c.335-116A>T (n.335-116A>T)
c.1273A>T (p.Met425Leu)
c.1249A>T (p.Met417Leu)
c.1258A>T (p.Met420Leu)
c.1234A>T (p.Met412Leu)
c.1246A>T (p.Met416Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.16996416T>CCA338254401ATP13A2c.1276A>G (p.Met426Val)
c.1261A>G (p.Met421Val)
n.884A>G
n.335-116A>G
c.418A>G (p.Met140Val)
n.279A>G
c.335-116A>G (n.335-116A>G)
c.1273A>G (p.Met425Val)
c.1249A>G (p.Met417Val)
c.1258A>G (p.Met420Val)
c.1234A>G (p.Met412Val)
c.1246A>G (p.Met416Val)
 ClinVar dbSNP gnomAD v2
1g.16996416T>GCA338254398ATP13A2c.1276A>C (p.Met426Leu)
c.1261A>C (p.Met421Leu)
n.884A>C
n.335-116A>C
c.418A>C (p.Met140Leu)
n.279A>C
c.335-116A>C (n.335-116A>C)
c.1273A>C (p.Met425Leu)
c.1249A>C (p.Met417Leu)
c.1258A>C (p.Met420Leu)
c.1234A>C (p.Met412Leu)
c.1246A>C (p.Met416Leu)
 gnomAD v4
1g.16996416T=CA1156031497ATP13A2c.1276A= (p.Met426=)
c.1261A= (p.Met421=)
n.884A=
n.335-116A=
c.418A= (p.Met140=)
n.279A=
c.335-116A= (n.335-116A=)
c.1273A= (p.Met425=)
c.1249A= (p.Met417=)
c.1258A= (p.Met420=)
c.1234A= (p.Met412=)
c.1246A= (p.Met416=)
1g.16996417G>ACA416061801ATP13A2c.1275C>T (p.Ser425=)
c.1260C>T (p.Ser420=)
n.883C>T
n.335-117C>T
c.417C>T (p.Ser139=)
n.278C>T
c.335-117C>T (n.335-117C>T)
c.1272C>T (p.Ser424=)
c.1248C>T (p.Ser416=)
c.1257C>T (p.Ser419=)
c.1233C>T (p.Ser411=)
c.1245C>T (p.Ser415=)
1g.16996417G>CCA338254404ATP13A2c.1275C>G (p.Ser425Arg)
c.1260C>G (p.Ser420Arg)
n.883C>G
n.335-117C>G
c.417C>G (p.Ser139Arg)
n.278C>G
c.335-117C>G (n.335-117C>G)
c.1272C>G (p.Ser424Arg)
c.1248C>G (p.Ser416Arg)
c.1257C>G (p.Ser419Arg)
c.1233C>G (p.Ser411Arg)
c.1245C>G (p.Ser415Arg)
1g.16996417G>TCA338254405ATP13A2c.1275C>A (p.Ser425Arg)
c.1260C>A (p.Ser420Arg)
n.883C>A
n.335-117C>A
c.417C>A (p.Ser139Arg)
n.278C>A
c.335-117C>A (n.335-117C>A)
c.1272C>A (p.Ser424Arg)
c.1248C>A (p.Ser416Arg)
c.1257C>A (p.Ser419Arg)
c.1233C>A (p.Ser411Arg)
c.1245C>A (p.Ser415Arg)
1g.16996418C>ACA338254410ATP13A2c.1274G>T (p.Ser425Ile)
c.1259G>T (p.Ser420Ile)
n.882G>T
n.335-118G>T
c.416G>T (p.Ser139Ile)
n.277G>T
c.335-118G>T (n.335-118G>T)
c.1271G>T (p.Ser424Ile)
c.1247G>T (p.Ser416Ile)
c.1256G>T (p.Ser419Ile)
c.1232G>T (p.Ser411Ile)
c.1244G>T (p.Ser415Ile)
1g.16996418C=CA1156031504ATP13A2c.1274G= (p.Ser425=)
c.1259G= (p.Ser420=)
n.882G=
n.335-118G=
c.416G= (p.Ser139=)
n.277G=
c.335-118G= (n.335-118G=)
c.1271G= (p.Ser424=)
c.1247G= (p.Ser416=)
c.1256G= (p.Ser419=)
c.1232G= (p.Ser411=)
c.1244G= (p.Ser415=)
1g.16996418C>GCA338254413ATP13A2c.1274G>C (p.Ser425Thr)
c.1259G>C (p.Ser420Thr)
n.882G>C
n.335-118G>C
c.416G>C (p.Ser139Thr)
n.277G>C
c.335-118G>C (n.335-118G>C)
c.1271G>C (p.Ser424Thr)
c.1247G>C (p.Ser416Thr)
c.1256G>C (p.Ser419Thr)
c.1232G>C (p.Ser411Thr)
c.1244G>C (p.Ser415Thr)
1g.16996418C>TCA338254414ATP13A2c.1274G>A (p.Ser425Asn)
c.1259G>A (p.Ser420Asn)
n.882G>A
n.335-118G>A
c.416G>A (p.Ser139Asn)
n.277G>A
c.335-118G>A (n.335-118G>A)
c.1271G>A (p.Ser424Asn)
c.1247G>A (p.Ser416Asn)
c.1256G>A (p.Ser419Asn)
c.1232G>A (p.Ser411Asn)
c.1244G>A (p.Ser415Asn)
 dbSNP gnomAD v3 gnomAD v4
1g.16996419T>ACA338254415ATP13A2c.1273A>T (p.Ser425Cys)
c.1258A>T (p.Ser420Cys)
n.881A>T
n.335-119A>T
c.415A>T (p.Ser139Cys)
n.276A>T
c.335-119A>T (n.335-119A>T)
c.1270A>T (p.Ser424Cys)
c.1246A>T (p.Ser416Cys)
c.1255A>T (p.Ser419Cys)
c.1231A>T (p.Ser411Cys)
c.1243A>T (p.Ser415Cys)
1g.16996419T>CCA338254416ATP13A2c.1273A>G (p.Ser425Gly)
c.1258A>G (p.Ser420Gly)
n.881A>G
n.335-119A>G
c.415A>G (p.Ser139Gly)
n.276A>G
c.335-119A>G (n.335-119A>G)
c.1270A>G (p.Ser424Gly)
c.1246A>G (p.Ser416Gly)
c.1255A>G (p.Ser419Gly)
c.1231A>G (p.Ser411Gly)
c.1243A>G (p.Ser415Gly)
1g.16996419T>GCA18637506ATP13A2c.1273A>C (p.Ser425Arg)
c.1258A>C (p.Ser420Arg)
n.881A>C
n.335-119A>C
c.415A>C (p.Ser139Arg)
n.276A>C
c.335-119A>C (n.335-119A>C)
c.1270A>C (p.Ser424Arg)
c.1246A>C (p.Ser416Arg)
c.1255A>C (p.Ser419Arg)
c.1231A>C (p.Ser411Arg)
c.1243A>C (p.Ser415Arg)
 dbSNP gnomAD v4
1g.16996419T=CA1156031509ATP13A2c.1273A= (p.Ser425=)
c.1258A= (p.Ser420=)
n.881A=
n.335-119A=
c.415A= (p.Ser139=)
n.276A=
c.335-119A= (n.335-119A=)
c.1270A= (p.Ser424=)
c.1246A= (p.Ser416=)
c.1255A= (p.Ser419=)
c.1231A= (p.Ser411=)
c.1243A= (p.Ser415=)
1g.16996420G>ACA416061817ATP13A2c.1272C>T (p.His424=)
c.1257C>T (p.His419=)
n.880C>T
n.335-120C>T
c.414C>T (p.His138=)
n.275C>T
c.335-120C>T (n.335-120C>T)
c.1269C>T (p.His423=)
c.1245C>T (p.His415=)
c.1254C>T (p.His418=)
c.1230C>T (p.His410=)
c.1242C>T (p.His414=)
1g.16996420G>CCA338254417ATP13A2c.1272C>G (p.His424Gln)
c.1257C>G (p.His419Gln)
n.880C>G
n.335-120C>G
c.414C>G (p.His138Gln)
n.275C>G
c.335-120C>G (n.335-120C>G)
c.1269C>G (p.His423Gln)
c.1245C>G (p.His415Gln)
c.1254C>G (p.His418Gln)
c.1230C>G (p.His410Gln)
c.1242C>G (p.His414Gln)
1g.16996420G>TCA338254421ATP13A2c.1272C>A (p.His424Gln)
c.1257C>A (p.His419Gln)
n.880C>A
n.335-120C>A
c.414C>A (p.His138Gln)
n.275C>A
c.335-120C>A (n.335-120C>A)
c.1269C>A (p.His423Gln)
c.1245C>A (p.His415Gln)
c.1254C>A (p.His418Gln)
c.1230C>A (p.His410Gln)
c.1242C>A (p.His414Gln)
 ClinVar
1g.16996421T>ACA338254423ATP13A2c.1271A>T (p.His424Leu)
c.1256A>T (p.His419Leu)
n.879A>T
n.335-121A>T
c.413A>T (p.His138Leu)
n.274A>T
c.335-121A>T (n.335-121A>T)
c.1268A>T (p.His423Leu)
c.1244A>T (p.His415Leu)
c.1253A>T (p.His418Leu)
c.1229A>T (p.His410Leu)
c.1241A>T (p.His414Leu)
1g.16996421T>CCA338254424ATP13A2c.1271A>G (p.His424Arg)
c.1256A>G (p.His419Arg)
n.879A>G
n.335-121A>G
c.413A>G (p.His138Arg)
n.274A>G
c.335-121A>G (n.335-121A>G)
c.1268A>G (p.His423Arg)
c.1244A>G (p.His415Arg)
c.1253A>G (p.His418Arg)
c.1229A>G (p.His410Arg)
c.1241A>G (p.His414Arg)
1g.16996421T>GCA18637512ATP13A2c.1271A>C (p.His424Pro)
c.1256A>C (p.His419Pro)
n.879A>C
n.335-121A>C
c.413A>C (p.His138Pro)
n.274A>C
c.335-121A>C (n.335-121A>C)
c.1268A>C (p.His423Pro)
c.1244A>C (p.His415Pro)
c.1253A>C (p.His418Pro)
c.1229A>C (p.His410Pro)
c.1241A>C (p.His414Pro)
 dbSNP
1g.16996421T=CA1140793559ATP13A2c.1271A= (p.His424=)
c.1256A= (p.His419=)
n.879A=
n.335-121A=
c.413A= (p.His138=)
n.274A=
c.335-121A= (n.335-121A=)
c.1268A= (p.His423=)
c.1244A= (p.His415=)
c.1253A= (p.His418=)
c.1229A= (p.His410=)
c.1241A= (p.His414=)
1g.16996422G>ACA338254426ATP13A2c.1270C>T (p.His424Tyr)
c.1255C>T (p.His419Tyr)
n.878C>T
n.335-122C>T
c.412C>T (p.His138Tyr)
n.273C>T
c.335-122C>T (n.335-122C>T)
c.1267C>T (p.His423Tyr)
c.1243C>T (p.His415Tyr)
c.1252C>T (p.His418Tyr)
c.1228C>T (p.His410Tyr)
c.1240C>T (p.His414Tyr)
1g.16996422G>CCA338254427ATP13A2c.1270C>G (p.His424Asp)
c.1255C>G (p.His419Asp)
n.878C>G
n.335-122C>G
c.412C>G (p.His138Asp)
n.273C>G
c.335-122C>G (n.335-122C>G)
c.1267C>G (p.His423Asp)
c.1243C>G (p.His415Asp)
c.1252C>G (p.His418Asp)
c.1228C>G (p.His410Asp)
c.1240C>G (p.His414Asp)
 dbSNP gnomAD v4
1g.16996422G=CA1156031529ATP13A2c.1270C= (p.His424=)
c.1255C= (p.His419=)
n.878C=
n.335-122C=
c.412C= (p.His138=)
n.273C=
c.335-122C= (n.335-122C=)
c.1267C= (p.His423=)
c.1243C= (p.His415=)
c.1252C= (p.His418=)
c.1228C= (p.His410=)
c.1240C= (p.His414=)
1g.16996422G>TCA338254425ATP13A2c.1270C>A (p.His424Asn)
c.1255C>A (p.His419Asn)
n.878C>A
n.335-122C>A
c.412C>A (p.His138Asn)
n.273C>A
c.335-122C>A (n.335-122C>A)
c.1267C>A (p.His423Asn)
c.1243C>A (p.His415Asn)
c.1252C>A (p.His418Asn)
c.1228C>A (p.His410Asn)
c.1240C>A (p.His414Asn)
1g.16996423T>ACA338254428ATP13A2c.1269A>T (p.Lys423Asn)
c.1254A>T (p.Lys418Asn)
n.877A>T
n.335-123A>T
c.411A>T (p.Lys137Asn)
n.272A>T
c.335-123A>T (n.335-123A>T)
c.1266A>T (p.Lys422Asn)
c.1242A>T (p.Lys414Asn)
c.1251A>T (p.Lys417Asn)
c.1227A>T (p.Lys409Asn)
c.1239A>T (p.Lys413Asn)
1g.16996423T>CCA416061828ATP13A2c.1269A>G (p.Lys423=)
c.1254A>G (p.Lys418=)
n.877A>G
n.335-123A>G
c.411A>G (p.Lys137=)
n.272A>G
c.335-123A>G (n.335-123A>G)
c.1266A>G (p.Lys422=)
c.1242A>G (p.Lys414=)
c.1251A>G (p.Lys417=)
c.1227A>G (p.Lys409=)
c.1239A>G (p.Lys413=)
1g.16996423T>GCA338254429ATP13A2c.1269A>C (p.Lys423Asn)
c.1254A>C (p.Lys418Asn)
n.877A>C
n.335-123A>C
c.411A>C (p.Lys137Asn)
n.272A>C
c.335-123A>C (n.335-123A>C)
c.1266A>C (p.Lys422Asn)
c.1242A>C (p.Lys414Asn)
c.1251A>C (p.Lys417Asn)
c.1227A>C (p.Lys409Asn)
c.1239A>C (p.Lys413Asn)
 dbSNP
1g.16996423T=CA1156031535ATP13A2c.1269A= (p.Lys423=)
c.1254A= (p.Lys418=)
n.877A=
n.335-123A=
c.411A= (p.Lys137=)
n.272A=
c.335-123A= (n.335-123A=)
c.1266A= (p.Lys422=)
c.1242A= (p.Lys414=)
c.1251A= (p.Lys417=)
c.1227A= (p.Lys409=)
c.1239A= (p.Lys413=)
1g.16996424T>ACA338254431ATP13A2c.1268A>T (p.Lys423Ile)
c.1253A>T (p.Lys418Ile)
n.876A>T
n.335-124A>T
c.410A>T (p.Lys137Ile)
n.271A>T
c.335-124A>T (n.335-124A>T)
c.1265A>T (p.Lys422Ile)
c.1241A>T (p.Lys414Ile)
c.1250A>T (p.Lys417Ile)
c.1226A>T (p.Lys409Ile)
c.1238A>T (p.Lys413Ile)
1g.16996424T>CCA338254434ATP13A2c.1268A>G (p.Lys423Arg)
c.1253A>G (p.Lys418Arg)
n.876A>G
n.335-124A>G
c.410A>G (p.Lys137Arg)
n.271A>G
c.335-124A>G (n.335-124A>G)
c.1265A>G (p.Lys422Arg)
c.1241A>G (p.Lys414Arg)
c.1250A>G (p.Lys417Arg)
c.1226A>G (p.Lys409Arg)
c.1238A>G (p.Lys413Arg)
1g.16996424T>GCA338254436ATP13A2c.1268A>C (p.Lys423Thr)
c.1253A>C (p.Lys418Thr)
n.876A>C
n.335-124A>C
c.410A>C (p.Lys137Thr)
n.271A>C
c.335-124A>C (n.335-124A>C)
c.1265A>C (p.Lys422Thr)
c.1241A>C (p.Lys414Thr)
c.1250A>C (p.Lys417Thr)
c.1226A>C (p.Lys409Thr)
c.1238A>C (p.Lys413Thr)
1g.16996425T>ACA338254439ATP13A2c.1267A>T (p.Lys423Ter)
c.1252A>T (p.Lys418Ter)
n.875A>T
n.335-125A>T
c.409A>T (p.Lys137Ter)
n.270A>T
c.335-125A>T (n.335-125A>T)
c.1264A>T (p.Lys422Ter)
c.1240A>T (p.Lys414Ter)
c.1249A>T (p.Lys417Ter)
c.1225A>T (p.Lys409Ter)
c.1237A>T (p.Lys413Ter)
1g.16996425T>CCA338254442ATP13A2c.1267A>G (p.Lys423Glu)
c.1252A>G (p.Lys418Glu)
n.875A>G
n.335-125A>G
c.409A>G (p.Lys137Glu)
n.270A>G
c.335-125A>G (n.335-125A>G)
c.1264A>G (p.Lys422Glu)
c.1240A>G (p.Lys414Glu)
c.1249A>G (p.Lys417Glu)
c.1225A>G (p.Lys409Glu)
c.1237A>G (p.Lys413Glu)
1g.16996425T>GCA338254446ATP13A2c.1267A>C (p.Lys423Gln)
c.1252A>C (p.Lys418Gln)
n.875A>C
n.335-125A>C
c.409A>C (p.Lys137Gln)
n.270A>C
c.335-125A>C (n.335-125A>C)
c.1264A>C (p.Lys422Gln)
c.1240A>C (p.Lys414Gln)
c.1249A>C (p.Lys417Gln)
c.1225A>C (p.Lys409Gln)
c.1237A>C (p.Lys413Gln)
1g.16996426A>CCA338254462ATP13A2c.1266T>G (p.Tyr422Ter)
c.1251T>G (p.Tyr417Ter)
n.874T>G
n.335-126T>G
c.408T>G (p.Tyr136Ter)
n.269T>G
c.335-126T>G (n.335-126T>G)
c.1263T>G (p.Tyr421Ter)
c.1239T>G (p.Tyr413Ter)
c.1248T>G (p.Tyr416Ter)
c.1224T>G (p.Tyr408Ter)
c.1236T>G (p.Tyr412Ter)
1g.16996426A>GCA416061842ATP13A2c.1266T>C (p.Tyr422=)
c.1251T>C (p.Tyr417=)
n.874T>C
n.335-126T>C
c.408T>C (p.Tyr136=)
n.269T>C
c.335-126T>C (n.335-126T>C)
c.1263T>C (p.Tyr421=)
c.1239T>C (p.Tyr413=)
c.1248T>C (p.Tyr416=)
c.1224T>C (p.Tyr408=)
c.1236T>C (p.Tyr412=)
1g.16996426A>TCA338254464ATP13A2c.1266T>A (p.Tyr422Ter)
c.1251T>A (p.Tyr417Ter)
n.874T>A
n.335-126T>A
c.408T>A (p.Tyr136Ter)
n.269T>A
c.335-126T>A (n.335-126T>A)
c.1263T>A (p.Tyr421Ter)
c.1239T>A (p.Tyr413Ter)
c.1248T>A (p.Tyr416Ter)
c.1224T>A (p.Tyr408Ter)
c.1236T>A (p.Tyr412Ter)
1g.16996427T>ACA338254467ATP13A2c.1265A>T (p.Tyr422Phe)
c.1250A>T (p.Tyr417Phe)
n.873A>T
n.335-127A>T
c.407A>T (p.Tyr136Phe)
n.268A>T
c.335-127A>T (n.335-127A>T)
c.1262A>T (p.Tyr421Phe)
c.1238A>T (p.Tyr413Phe)
c.1247A>T (p.Tyr416Phe)
c.1223A>T (p.Tyr408Phe)
c.1235A>T (p.Tyr412Phe)
1g.16996427T>CCA637302ATP13A2c.1265A>G (p.Tyr422Cys)
c.1250A>G (p.Tyr417Cys)
n.873A>G
n.335-127A>G
c.407A>G (p.Tyr136Cys)
n.268A>G
c.335-127A>G (n.335-127A>G)
c.1262A>G (p.Tyr421Cys)
c.1238A>G (p.Tyr413Cys)
c.1247A>G (p.Tyr416Cys)
c.1223A>G (p.Tyr408Cys)
c.1235A>G (p.Tyr412Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996427T>GCA338254476ATP13A2c.1265A>C (p.Tyr422Ser)
c.1250A>C (p.Tyr417Ser)
n.873A>C
n.335-127A>C
c.407A>C (p.Tyr136Ser)
n.268A>C
c.335-127A>C (n.335-127A>C)
c.1262A>C (p.Tyr421Ser)
c.1238A>C (p.Tyr413Ser)
c.1247A>C (p.Tyr416Ser)
c.1223A>C (p.Tyr408Ser)
c.1235A>C (p.Tyr412Ser)
1g.16996427T=CA1144012014ATP13A2c.1265A= (p.Tyr422=)
c.1250A= (p.Tyr417=)
n.873A=
n.335-127A=
c.407A= (p.Tyr136=)
n.268A=
c.335-127A= (n.335-127A=)
c.1262A= (p.Tyr421=)
c.1238A= (p.Tyr413=)
c.1247A= (p.Tyr416=)
c.1223A= (p.Tyr408=)
c.1235A= (p.Tyr412=)
1g.16996428A>CCA338254481ATP13A2c.1264T>G (p.Tyr422Asp)
c.1249T>G (p.Tyr417Asp)
n.872T>G
n.335-128T>G
c.406T>G (p.Tyr136Asp)
n.267T>G
c.335-128T>G (n.335-128T>G)
c.1261T>G (p.Tyr421Asp)
c.1237T>G (p.Tyr413Asp)
c.1246T>G (p.Tyr416Asp)
c.1222T>G (p.Tyr408Asp)
c.1234T>G (p.Tyr412Asp)
1g.16996428A>GCA338254479ATP13A2c.1264T>C (p.Tyr422His)
c.1249T>C (p.Tyr417His)
n.872T>C
n.335-128T>C
c.406T>C (p.Tyr136His)
n.267T>C
c.335-128T>C (n.335-128T>C)
c.1261T>C (p.Tyr421His)
c.1237T>C (p.Tyr413His)
c.1246T>C (p.Tyr416His)
c.1222T>C (p.Tyr408His)
c.1234T>C (p.Tyr412His)
1g.16996428A>TCA338254478ATP13A2c.1264T>A (p.Tyr422Asn)
c.1249T>A (p.Tyr417Asn)
n.872T>A
n.335-128T>A
c.406T>A (p.Tyr136Asn)
n.267T>A
c.335-128T>A (n.335-128T>A)
c.1261T>A (p.Tyr421Asn)
c.1237T>A (p.Tyr413Asn)
c.1246T>A (p.Tyr416Asn)
c.1222T>A (p.Tyr408Asn)
c.1234T>A (p.Tyr412Asn)
1g.16996429delCA2643673986ATP13A2c.1263del (p.Tyr422IlefsTer5)
c.1248del (p.Tyr417IlefsTer5)
n.871del
n.335-129del
c.405del (p.Tyr136IlefsTer5)
n.266del
c.335-129del (n.335-129del)
c.1260del (p.Tyr421IlefsTer5)
c.1236del (p.Tyr413IlefsTer5)
c.1245del (p.Tyr416IlefsTer5)
c.1221del (p.Tyr408IlefsTer5)
c.1233del (p.Tyr412IlefsTer5)
 gnomAD v4
1g.16996429G>ACA416061856ATP13A2c.1263C>T (p.Phe421=)
c.1248C>T (p.Phe416=)
n.871C>T
n.335-129C>T
c.405C>T (p.Phe135=)
n.266C>T
c.335-129C>T (n.335-129C>T)
c.1260C>T (p.Phe420=)
c.1236C>T (p.Phe412=)
c.1245C>T (p.Phe415=)
c.1221C>T (p.Phe407=)
c.1233C>T (p.Phe411=)
1g.16996429G>CCA637303ATP13A2c.1263C>G (p.Phe421Leu)
c.1248C>G (p.Phe416Leu)
n.871C>G
n.335-129C>G
c.405C>G (p.Phe135Leu)
n.266C>G
c.335-129C>G (n.335-129C>G)
c.1260C>G (p.Phe420Leu)
c.1236C>G (p.Phe412Leu)
c.1245C>G (p.Phe415Leu)
c.1221C>G (p.Phe407Leu)
c.1233C>G (p.Phe411Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996429G=CA1156031543ATP13A2c.1263C= (p.Phe421=)
c.1248C= (p.Phe416=)
n.871C=
n.335-129C=
c.405C= (p.Phe135=)
n.266C=
c.335-129C= (n.335-129C=)
c.1260C= (p.Phe420=)
c.1236C= (p.Phe412=)
c.1245C= (p.Phe415=)
c.1221C= (p.Phe407=)
c.1233C= (p.Phe411=)
1g.16996429G>TCA338254490ATP13A2c.1263C>A (p.Phe421Leu)
c.1248C>A (p.Phe416Leu)
n.871C>A
n.335-129C>A
c.405C>A (p.Phe135Leu)
n.266C>A
c.335-129C>A (n.335-129C>A)
c.1260C>A (p.Phe420Leu)
c.1236C>A (p.Phe412Leu)
c.1245C>A (p.Phe415Leu)
c.1221C>A (p.Phe407Leu)
c.1233C>A (p.Phe411Leu)
1g.16996430A>CCA338254494ATP13A2c.1262T>G (p.Phe421Cys)
c.1247T>G (p.Phe416Cys)
n.870T>G
n.335-130T>G
c.404T>G (p.Phe135Cys)
n.265T>G
c.335-130T>G (n.335-130T>G)
c.1259T>G (p.Phe420Cys)
c.1235T>G (p.Phe412Cys)
c.1244T>G (p.Phe415Cys)
c.1220T>G (p.Phe407Cys)
c.1232T>G (p.Phe411Cys)
1g.16996430A>GCA338254511ATP13A2c.1262T>C (p.Phe421Ser)
c.1247T>C (p.Phe416Ser)
n.870T>C
n.335-130T>C
c.404T>C (p.Phe135Ser)
n.265T>C
c.335-130T>C (n.335-130T>C)
c.1259T>C (p.Phe420Ser)
c.1235T>C (p.Phe412Ser)
c.1244T>C (p.Phe415Ser)
c.1220T>C (p.Phe407Ser)
c.1232T>C (p.Phe411Ser)
 gnomAD v4
1g.16996430A>TCA338254515ATP13A2c.1262T>A (p.Phe421Tyr)
c.1247T>A (p.Phe416Tyr)
n.870T>A
n.335-130T>A
c.404T>A (p.Phe135Tyr)
n.265T>A
c.335-130T>A (n.335-130T>A)
c.1259T>A (p.Phe420Tyr)
c.1235T>A (p.Phe412Tyr)
c.1244T>A (p.Phe415Tyr)
c.1220T>A (p.Phe407Tyr)
c.1232T>A (p.Phe411Tyr)
1g.16996431A>CCA338254524ATP13A2c.1261T>G (p.Phe421Val)
c.1246T>G (p.Phe416Val)
n.869T>G
n.335-131T>G
c.403T>G (p.Phe135Val)
n.264T>G
c.335-131T>G (n.335-131T>G)
c.1258T>G (p.Phe420Val)
c.1234T>G (p.Phe412Val)
c.1243T>G (p.Phe415Val)
c.1219T>G (p.Phe407Val)
c.1231T>G (p.Phe411Val)
1g.16996431A>GCA338254528ATP13A2c.1261T>C (p.Phe421Leu)
c.1246T>C (p.Phe416Leu)
n.869T>C
n.335-131T>C
c.403T>C (p.Phe135Leu)
n.264T>C
c.335-131T>C (n.335-131T>C)
c.1258T>C (p.Phe420Leu)
c.1234T>C (p.Phe412Leu)
c.1243T>C (p.Phe415Leu)
c.1219T>C (p.Phe407Leu)
c.1231T>C (p.Phe411Leu)
1g.16996431A>TCA338254530ATP13A2c.1261T>A (p.Phe421Ile)
c.1246T>A (p.Phe416Ile)
n.869T>A
n.335-131T>A
c.403T>A (p.Phe135Ile)
n.264T>A
c.335-131T>A (n.335-131T>A)
c.1258T>A (p.Phe420Ile)
c.1234T>A (p.Phe412Ile)
c.1243T>A (p.Phe415Ile)
c.1219T>A (p.Phe407Ile)
c.1231T>A (p.Phe411Ile)
1g.16996432C>ACA338254533ATP13A2c.1260G>T (p.Lys420Asn)
c.1245G>T (p.Lys415Asn)
n.868G>T
n.335-132G>T
c.402G>T (p.Lys134Asn)
n.263G>T
c.335-132G>T (n.335-132G>T)
c.1257G>T (p.Lys419Asn)
c.1233G>T (p.Lys411Asn)
c.1242G>T (p.Lys414Asn)
c.1218G>T (p.Lys406Asn)
c.1230G>T (p.Lys410Asn)
1g.16996432C=CA1156031554ATP13A2c.1260G= (p.Lys420=)
c.1245G= (p.Lys415=)
n.868G=
n.335-132G=
c.402G= (p.Lys134=)
n.263G=
c.335-132G= (n.335-132G=)
c.1257G= (p.Lys419=)
c.1233G= (p.Lys411=)
c.1242G= (p.Lys414=)
c.1218G= (p.Lys406=)
c.1230G= (p.Lys410=)
1g.16996432C>GCA338254535ATP13A2c.1260G>C (p.Lys420Asn)
c.1245G>C (p.Lys415Asn)
n.868G>C
n.335-132G>C
c.402G>C (p.Lys134Asn)
n.263G>C
c.335-132G>C (n.335-132G>C)
c.1257G>C (p.Lys419Asn)
c.1233G>C (p.Lys411Asn)
c.1242G>C (p.Lys414Asn)
c.1218G>C (p.Lys406Asn)
c.1230G>C (p.Lys410Asn)
1g.16996432C>TCA416061872ATP13A2c.1260G>A (p.Lys420=)
c.1245G>A (p.Lys415=)
n.868G>A
n.335-132G>A
c.402G>A (p.Lys134=)
n.263G>A
c.335-132G>A (n.335-132G>A)
c.1257G>A (p.Lys419=)
c.1233G>A (p.Lys411=)
c.1242G>A (p.Lys414=)
c.1218G>A (p.Lys406=)
c.1230G>A (p.Lys410=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16996433T>ACA338254537ATP13A2c.1259A>T (p.Lys420Met)
c.1244A>T (p.Lys415Met)
n.867A>T
n.335-133A>T
c.401A>T (p.Lys134Met)
n.262A>T
c.335-133A>T (n.335-133A>T)
c.1256A>T (p.Lys419Met)
c.1232A>T (p.Lys411Met)
c.1241A>T (p.Lys414Met)
c.1217A>T (p.Lys406Met)
c.1229A>T (p.Lys410Met)
1g.16996433T>CCA338254538ATP13A2c.1259A>G (p.Lys420Arg)
c.1244A>G (p.Lys415Arg)
n.867A>G
n.335-133A>G
c.401A>G (p.Lys134Arg)
n.262A>G
c.335-133A>G (n.335-133A>G)
c.1256A>G (p.Lys419Arg)
c.1232A>G (p.Lys411Arg)
c.1241A>G (p.Lys414Arg)
c.1217A>G (p.Lys406Arg)
c.1229A>G (p.Lys410Arg)
 gnomAD v4
1g.16996433T>GCA338254541ATP13A2c.1259A>C (p.Lys420Thr)
c.1244A>C (p.Lys415Thr)
n.867A>C
n.335-133A>C
c.401A>C (p.Lys134Thr)
n.262A>C
c.335-133A>C (n.335-133A>C)
c.1256A>C (p.Lys419Thr)
c.1232A>C (p.Lys411Thr)
c.1241A>C (p.Lys414Thr)
c.1217A>C (p.Lys406Thr)
c.1229A>C (p.Lys410Thr)
1g.16996434T>ACA338254551ATP13A2c.1258A>T (p.Lys420Ter)
c.1243A>T (p.Lys415Ter)
n.866A>T
n.335-134A>T
c.400A>T (p.Lys134Ter)
n.261A>T
c.335-134A>T (n.335-134A>T)
c.1255A>T (p.Lys419Ter)
c.1231A>T (p.Lys411Ter)
c.1240A>T (p.Lys414Ter)
c.1216A>T (p.Lys406Ter)
c.1228A>T (p.Lys410Ter)
1g.16996434T>CCA338254548ATP13A2c.1258A>G (p.Lys420Glu)
c.1243A>G (p.Lys415Glu)
n.866A>G
n.335-134A>G
c.400A>G (p.Lys134Glu)
n.261A>G
c.335-134A>G (n.335-134A>G)
c.1255A>G (p.Lys419Glu)
c.1231A>G (p.Lys411Glu)
c.1240A>G (p.Lys414Glu)
c.1216A>G (p.Lys406Glu)
c.1228A>G (p.Lys410Glu)
1g.16996434T>GCA338254546ATP13A2c.1258A>C (p.Lys420Gln)
c.1243A>C (p.Lys415Gln)
n.866A>C
n.335-134A>C
c.400A>C (p.Lys134Gln)
n.261A>C
c.335-134A>C (n.335-134A>C)
c.1255A>C (p.Lys419Gln)
c.1231A>C (p.Lys411Gln)
c.1240A>C (p.Lys414Gln)
c.1216A>C (p.Lys406Gln)
c.1228A>C (p.Lys410Gln)
1g.16996435G>ACA416061885ATP13A2c.1257C>T (p.Phe419=)
c.1242C>T (p.Phe414=)
n.865C>T
n.335-135C>T
c.399C>T (p.Phe133=)
n.260C>T
c.335-135C>T (n.335-135C>T)
c.1254C>T (p.Phe418=)
c.1230C>T (p.Phe410=)
c.1239C>T (p.Phe413=)
c.1215C>T (p.Phe405=)
c.1227C>T (p.Phe409=)
1g.16996435G>CCA338254560ATP13A2c.1257C>G (p.Phe419Leu)
c.1242C>G (p.Phe414Leu)
n.865C>G
n.335-135C>G
c.399C>G (p.Phe133Leu)
n.260C>G
c.335-135C>G (n.335-135C>G)
c.1254C>G (p.Phe418Leu)
c.1230C>G (p.Phe410Leu)
c.1239C>G (p.Phe413Leu)
c.1215C>G (p.Phe405Leu)
c.1227C>G (p.Phe409Leu)
1g.16996435G>TCA338254558ATP13A2c.1257C>A (p.Phe419Leu)
c.1242C>A (p.Phe414Leu)
n.865C>A
n.335-135C>A
c.399C>A (p.Phe133Leu)
n.260C>A
c.335-135C>A (n.335-135C>A)
c.1254C>A (p.Phe418Leu)
c.1230C>A (p.Phe410Leu)
c.1239C>A (p.Phe413Leu)
c.1215C>A (p.Phe405Leu)
c.1227C>A (p.Phe409Leu)
1g.16996436A>CCA338254565ATP13A2c.1256T>G (p.Phe419Cys)
c.1241T>G (p.Phe414Cys)
n.864T>G
n.335-136T>G
c.398T>G (p.Phe133Cys)
n.259T>G
c.335-136T>G (n.335-136T>G)
c.1253T>G (p.Phe418Cys)
c.1229T>G (p.Phe410Cys)
c.1238T>G (p.Phe413Cys)
c.1214T>G (p.Phe405Cys)
c.1226T>G (p.Phe409Cys)
1g.16996436A>GCA338254567ATP13A2c.1256T>C (p.Phe419Ser)
c.1241T>C (p.Phe414Ser)
n.864T>C
n.335-136T>C
c.398T>C (p.Phe133Ser)
n.259T>C
c.335-136T>C (n.335-136T>C)
c.1253T>C (p.Phe418Ser)
c.1229T>C (p.Phe410Ser)
c.1238T>C (p.Phe413Ser)
c.1214T>C (p.Phe405Ser)
c.1226T>C (p.Phe409Ser)
1g.16996436A>TCA338254568ATP13A2c.1256T>A (p.Phe419Tyr)
c.1241T>A (p.Phe414Tyr)
n.864T>A
n.335-136T>A
c.398T>A (p.Phe133Tyr)
n.259T>A
c.335-136T>A (n.335-136T>A)
c.1253T>A (p.Phe418Tyr)
c.1229T>A (p.Phe410Tyr)
c.1238T>A (p.Phe413Tyr)
c.1214T>A (p.Phe405Tyr)
c.1226T>A (p.Phe409Tyr)
1g.16996437A>CCA338254571ATP13A2c.1255T>G (p.Phe419Val)
c.1240T>G (p.Phe414Val)
n.863T>G
n.335-137T>G
c.397T>G (p.Phe133Val)
n.258T>G
c.335-137T>G (n.335-137T>G)
c.1252T>G (p.Phe418Val)
c.1228T>G (p.Phe410Val)
c.1237T>G (p.Phe413Val)
c.1213T>G (p.Phe405Val)
c.1225T>G (p.Phe409Val)
1g.16996437A>GCA338254574ATP13A2c.1255T>C (p.Phe419Leu)
c.1240T>C (p.Phe414Leu)
n.863T>C
n.335-137T>C
c.397T>C (p.Phe133Leu)
n.258T>C
c.335-137T>C (n.335-137T>C)
c.1252T>C (p.Phe418Leu)
c.1228T>C (p.Phe410Leu)
c.1237T>C (p.Phe413Leu)
c.1213T>C (p.Phe405Leu)
c.1225T>C (p.Phe409Leu)
1g.16996437A>TCA338254577ATP13A2c.1255T>A (p.Phe419Ile)
c.1240T>A (p.Phe414Ile)
n.863T>A
n.335-137T>A
c.397T>A (p.Phe133Ile)
n.258T>A
c.335-137T>A (n.335-137T>A)
c.1252T>A (p.Phe418Ile)
c.1228T>A (p.Phe410Ile)
c.1237T>A (p.Phe413Ile)
c.1213T>A (p.Phe405Ile)
c.1225T>A (p.Phe409Ile)
1g.16996438G>ACA416061886ATP13A2c.1254C>T (p.Asn418=)
c.1239C>T (p.Asn413=)
n.862C>T
n.335-138C>T
c.396C>T (p.Asn132=)
n.257C>T
c.335-138C>T (n.335-138C>T)
c.1251C>T (p.Asn417=)
c.1227C>T (p.Asn409=)
c.1236C>T (p.Asn412=)
c.1212C>T (p.Asn404=)
c.1224C>T (p.Asn408=)
 dbSNP gnomAD v4
1g.16996438G>CCA338254580ATP13A2c.1254C>G (p.Asn418Lys)
c.1239C>G (p.Asn413Lys)
n.862C>G
n.335-138C>G
c.396C>G (p.Asn132Lys)
n.257C>G
c.335-138C>G (n.335-138C>G)
c.1251C>G (p.Asn417Lys)
c.1227C>G (p.Asn409Lys)
c.1236C>G (p.Asn412Lys)
c.1212C>G (p.Asn404Lys)
c.1224C>G (p.Asn408Lys)
1g.16996438G=CA1156031562ATP13A2c.1254C= (p.Asn418=)
c.1239C= (p.Asn413=)
n.862C=
n.335-138C=
c.396C= (p.Asn132=)
n.257C=
c.335-138C= (n.335-138C=)
c.1251C= (p.Asn417=)
c.1227C= (p.Asn409=)
c.1236C= (p.Asn412=)
c.1212C= (p.Asn404=)
c.1224C= (p.Asn408=)
1g.16996438G>TCA338254581ATP13A2c.1254C>A (p.Asn418Lys)
c.1239C>A (p.Asn413Lys)
n.862C>A
n.335-138C>A
c.396C>A (p.Asn132Lys)
n.257C>A
c.335-138C>A (n.335-138C>A)
c.1251C>A (p.Asn417Lys)
c.1227C>A (p.Asn409Lys)
c.1236C>A (p.Asn412Lys)
c.1212C>A (p.Asn404Lys)
c.1224C>A (p.Asn408Lys)
 dbSNP
1g.16996439T>ACA338254585ATP13A2c.1253A>T (p.Asn418Ile)
c.1238A>T (p.Asn413Ile)
n.861A>T
n.335-139A>T
c.395A>T (p.Asn132Ile)
n.256A>T
c.335-139A>T (n.335-139A>T)
c.1250A>T (p.Asn417Ile)
c.1226A>T (p.Asn409Ile)
c.1235A>T (p.Asn412Ile)
c.1211A>T (p.Asn404Ile)
c.1223A>T (p.Asn408Ile)
1g.16996439T>CCA338254597ATP13A2c.1253A>G (p.Asn418Ser)
c.1238A>G (p.Asn413Ser)
n.861A>G
n.335-139A>G
c.395A>G (p.Asn132Ser)
n.256A>G
c.335-139A>G (n.335-139A>G)
c.1250A>G (p.Asn417Ser)
c.1226A>G (p.Asn409Ser)
c.1235A>G (p.Asn412Ser)
c.1211A>G (p.Asn404Ser)
c.1223A>G (p.Asn408Ser)
 gnomAD v4
1g.16996439T>GCA338254600ATP13A2c.1253A>C (p.Asn418Thr)
c.1238A>C (p.Asn413Thr)
n.861A>C
n.335-139A>C
c.395A>C (p.Asn132Thr)
n.256A>C
c.335-139A>C (n.335-139A>C)
c.1250A>C (p.Asn417Thr)
c.1226A>C (p.Asn409Thr)
c.1235A>C (p.Asn412Thr)
c.1211A>C (p.Asn404Thr)
c.1223A>C (p.Asn408Thr)
1g.16996440T>ACA338254618ATP13A2c.1252A>T (p.Asn418Tyr)
c.1237A>T (p.Asn413Tyr)
n.860A>T
n.335-140A>T
c.394A>T (p.Asn132Tyr)
n.255A>T
c.335-140A>T (n.335-140A>T)
c.1249A>T (p.Asn417Tyr)
c.1225A>T (p.Asn409Tyr)
c.1234A>T (p.Asn412Tyr)
c.1210A>T (p.Asn404Tyr)
c.1222A>T (p.Asn408Tyr)
1g.16996440T>CCA338254611ATP13A2c.1252A>G (p.Asn418Asp)
c.1237A>G (p.Asn413Asp)
n.860A>G
n.335-140A>G
c.394A>G (p.Asn132Asp)
n.255A>G
c.335-140A>G (n.335-140A>G)
c.1249A>G (p.Asn417Asp)
c.1225A>G (p.Asn409Asp)
c.1234A>G (p.Asn412Asp)
c.1210A>G (p.Asn404Asp)
c.1222A>G (p.Asn408Asp)
 gnomAD v4
1g.16996440T>GCA338254603ATP13A2c.1252A>C (p.Asn418His)
c.1237A>C (p.Asn413His)
n.860A>C
n.335-140A>C
c.394A>C (p.Asn132His)
n.255A>C
c.335-140A>C (n.335-140A>C)
c.1249A>C (p.Asn417His)
c.1225A>C (p.Asn409His)
c.1234A>C (p.Asn412His)
c.1210A>C (p.Asn404His)
c.1222A>C (p.Asn408His)
1g.16996441G>ACA416061894ATP13A2c.1251C>T (p.Ile417=)
c.1236C>T (p.Ile412=)
n.859C>T
n.335-141C>T
c.393C>T (p.Ile131=)
n.254C>T
c.335-141C>T (n.335-141C>T)
c.1248C>T (p.Ile416=)
c.1224C>T (p.Ile408=)
c.1233C>T (p.Ile411=)
c.1209C>T (p.Ile403=)
c.1221C>T (p.Ile407=)
 dbSNP
1g.16996441G>CCA338254620ATP13A2c.1251C>G (p.Ile417Met)
c.1236C>G (p.Ile412Met)
n.859C>G
n.335-141C>G
c.393C>G (p.Ile131Met)
n.254C>G
c.335-141C>G (n.335-141C>G)
c.1248C>G (p.Ile416Met)
c.1224C>G (p.Ile408Met)
c.1233C>G (p.Ile411Met)
c.1209C>G (p.Ile403Met)
c.1221C>G (p.Ile407Met)
1g.16996441G>TCA416061898ATP13A2c.1251C>A (p.Ile417=)
c.1236C>A (p.Ile412=)
n.859C>A
n.335-141C>A
c.393C>A (p.Ile131=)
n.254C>A
c.335-141C>A (n.335-141C>A)
c.1248C>A (p.Ile416=)
c.1224C>A (p.Ile408=)
c.1233C>A (p.Ile411=)
c.1209C>A (p.Ile403=)
c.1221C>A (p.Ile407=)
1g.16996442_16996446delCA2643673987ATP13A2c.1247_1251del (p.Pro416GlnfsTer6)
c.1232_1236del (p.Pro411GlnfsTer6)
n.855_859del
n.335-145_335-141del
c.389_393del (p.Pro130GlnfsTer6)
n.250_254del
c.335-145_335-141del (n.335-145_335-141del)
c.1244_1248del (p.Pro415GlnfsTer6)
c.1220_1224del (p.Pro407GlnfsTer6)
c.1229_1233del (p.Pro410GlnfsTer6)
c.1205_1209del (p.Pro402GlnfsTer6)
c.1217_1221del (p.Pro406GlnfsTer6)
 gnomAD v4
1g.16996442A>CCA338254624ATP13A2c.1250T>G (p.Ile417Ser)
c.1235T>G (p.Ile412Ser)
n.858T>G
n.335-142T>G
c.392T>G (p.Ile131Ser)
n.253T>G
c.335-142T>G (n.335-142T>G)
c.1247T>G (p.Ile416Ser)
c.1223T>G (p.Ile408Ser)
c.1232T>G (p.Ile411Ser)
c.1208T>G (p.Ile403Ser)
c.1220T>G (p.Ile407Ser)
1g.16996442A>GCA338254627ATP13A2c.1250T>C (p.Ile417Thr)
c.1235T>C (p.Ile412Thr)
n.858T>C
n.335-142T>C
c.392T>C (p.Ile131Thr)
n.253T>C
c.335-142T>C (n.335-142T>C)
c.1247T>C (p.Ile416Thr)
c.1223T>C (p.Ile408Thr)
c.1232T>C (p.Ile411Thr)
c.1208T>C (p.Ile403Thr)
c.1220T>C (p.Ile407Thr)
1g.16996442A>TCA338254630ATP13A2c.1250T>A (p.Ile417Asn)
c.1235T>A (p.Ile412Asn)
n.858T>A
n.335-142T>A
c.392T>A (p.Ile131Asn)
n.253T>A
c.335-142T>A (n.335-142T>A)
c.1247T>A (p.Ile416Asn)
c.1223T>A (p.Ile408Asn)
c.1232T>A (p.Ile411Asn)
c.1208T>A (p.Ile403Asn)
c.1220T>A (p.Ile407Asn)
1g.16996443T>ACA338254633ATP13A2c.1249A>T (p.Ile417Phe)
c.1234A>T (p.Ile412Phe)
n.857A>T
n.335-143A>T
c.391A>T (p.Ile131Phe)
n.252A>T
c.335-143A>T (n.335-143A>T)
c.1246A>T (p.Ile416Phe)
c.1222A>T (p.Ile408Phe)
c.1231A>T (p.Ile411Phe)
c.1207A>T (p.Ile403Phe)
c.1219A>T (p.Ile407Phe)
1g.16996443T>CCA338254639ATP13A2c.1249A>G (p.Ile417Val)
c.1234A>G (p.Ile412Val)
n.857A>G
n.335-143A>G
c.391A>G (p.Ile131Val)
n.252A>G
c.335-143A>G (n.335-143A>G)
c.1246A>G (p.Ile416Val)
c.1222A>G (p.Ile408Val)
c.1231A>G (p.Ile411Val)
c.1207A>G (p.Ile403Val)
c.1219A>G (p.Ile407Val)
 dbSNP gnomAD v3 gnomAD v4
1g.16996443T>GCA338254657ATP13A2c.1249A>C (p.Ile417Leu)
c.1234A>C (p.Ile412Leu)
n.857A>C
n.335-143A>C
c.391A>C (p.Ile131Leu)
n.252A>C
c.335-143A>C (n.335-143A>C)
c.1246A>C (p.Ile416Leu)
c.1222A>C (p.Ile408Leu)
c.1231A>C (p.Ile411Leu)
c.1207A>C (p.Ile403Leu)
c.1219A>C (p.Ile407Leu)
1g.16996443T=CA1156031572ATP13A2c.1249A= (p.Ile417=)
c.1234A= (p.Ile412=)
n.857A=
n.335-143A=
c.391A= (p.Ile131=)
n.252A=
c.335-143A= (n.335-143A=)
c.1246A= (p.Ile416=)
c.1222A= (p.Ile408=)
c.1231A= (p.Ile411=)
c.1207A= (p.Ile403=)
c.1219A= (p.Ile407=)
1g.16996444G>ACA416061908ATP13A2c.1248C>T (p.Pro416=)
c.1233C>T (p.Pro411=)
n.856C>T
n.335-144C>T
c.390C>T (p.Pro130=)
n.251C>T
c.335-144C>T (n.335-144C>T)
c.1245C>T (p.Pro415=)
c.1221C>T (p.Pro407=)
c.1230C>T (p.Pro410=)
c.1206C>T (p.Pro402=)
c.1218C>T (p.Pro406=)
1g.16996444G>CCA416061911ATP13A2c.1248C>G (p.Pro416=)
c.1233C>G (p.Pro411=)
n.856C>G
n.335-144C>G
c.390C>G (p.Pro130=)
n.251C>G
c.335-144C>G (n.335-144C>G)
c.1245C>G (p.Pro415=)
c.1221C>G (p.Pro407=)
c.1230C>G (p.Pro410=)
c.1206C>G (p.Pro402=)
c.1218C>G (p.Pro406=)
1g.16996444G>TCA416061909ATP13A2c.1248C>A (p.Pro416=)
c.1233C>A (p.Pro411=)
n.856C>A
n.335-144C>A
c.390C>A (p.Pro130=)
n.251C>A
c.335-144C>A (n.335-144C>A)
c.1245C>A (p.Pro415=)
c.1221C>A (p.Pro407=)
c.1230C>A (p.Pro410=)
c.1206C>A (p.Pro402=)
c.1218C>A (p.Pro406=)
1g.16996445G>ACA338254660ATP13A2c.1247C>T (p.Pro416Leu)
c.1232C>T (p.Pro411Leu)
n.855C>T
n.335-145C>T
c.389C>T (p.Pro130Leu)
n.250C>T
c.335-145C>T (n.335-145C>T)
c.1244C>T (p.Pro415Leu)
c.1220C>T (p.Pro407Leu)
c.1229C>T (p.Pro410Leu)
c.1205C>T (p.Pro402Leu)
c.1217C>T (p.Pro406Leu)
1g.16996445G>CCA338254664ATP13A2c.1247C>G (p.Pro416Arg)
c.1232C>G (p.Pro411Arg)
n.855C>G
n.335-145C>G
c.389C>G (p.Pro130Arg)
n.250C>G
c.335-145C>G (n.335-145C>G)
c.1244C>G (p.Pro415Arg)
c.1220C>G (p.Pro407Arg)
c.1229C>G (p.Pro410Arg)
c.1205C>G (p.Pro402Arg)
c.1217C>G (p.Pro406Arg)
1g.16996445G>TCA338254665ATP13A2c.1247C>A (p.Pro416His)
c.1232C>A (p.Pro411His)
n.855C>A
n.335-145C>A
c.389C>A (p.Pro130His)
n.250C>A
c.335-145C>A (n.335-145C>A)
c.1244C>A (p.Pro415His)
c.1220C>A (p.Pro407His)
c.1229C>A (p.Pro410His)
c.1205C>A (p.Pro402His)
c.1217C>A (p.Pro406His)
1g.16996446G>ACA338254666ATP13A2c.1246C>T (p.Pro416Ser)
c.1231C>T (p.Pro411Ser)
n.854C>T
n.335-146C>T
c.388C>T (p.Pro130Ser)
n.249C>T
c.335-146C>T (n.335-146C>T)
c.1243C>T (p.Pro415Ser)
c.1219C>T (p.Pro407Ser)
c.1228C>T (p.Pro410Ser)
c.1204C>T (p.Pro402Ser)
c.1216C>T (p.Pro406Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.16996446G>CCA338254667ATP13A2c.1246C>G (p.Pro416Ala)
c.1231C>G (p.Pro411Ala)
n.854C>G
n.335-146C>G
c.388C>G (p.Pro130Ala)
n.249C>G
c.335-146C>G (n.335-146C>G)
c.1243C>G (p.Pro415Ala)
c.1219C>G (p.Pro407Ala)
c.1228C>G (p.Pro410Ala)
c.1204C>G (p.Pro402Ala)
c.1216C>G (p.Pro406Ala)
1g.16996446G=CA1156031578ATP13A2c.1246C= (p.Pro416=)
c.1231C= (p.Pro411=)
n.854C=
n.335-146C=
c.388C= (p.Pro130=)
n.249C=
c.335-146C= (n.335-146C=)
c.1243C= (p.Pro415=)
c.1219C= (p.Pro407=)
c.1228C= (p.Pro410=)
c.1204C= (p.Pro402=)
c.1216C= (p.Pro406=)
1g.16996446G>TCA338254668ATP13A2c.1246C>A (p.Pro416Thr)
c.1231C>A (p.Pro411Thr)
n.854C>A
n.335-146C>A
c.388C>A (p.Pro130Thr)
n.249C>A
c.335-146C>A (n.335-146C>A)
c.1243C>A (p.Pro415Thr)
c.1219C>A (p.Pro407Thr)
c.1228C>A (p.Pro410Thr)
c.1204C>A (p.Pro402Thr)
c.1216C>A (p.Pro406Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16996447C>ACA416061925ATP13A2c.1245G>T (p.Arg415=)
c.1230G>T (p.Arg410=)
n.853G>T
n.335-147G>T
c.387G>T (p.Arg129=)
n.248G>T
c.335-147G>T (n.335-147G>T)
c.1242G>T (p.Arg414=)
c.1218G>T (p.Arg406=)
c.1227G>T (p.Arg409=)
c.1203G>T (p.Arg401=)
c.1215G>T (p.Arg405=)
1g.16996447C=CA1156031585ATP13A2c.1245G= (p.Arg415=)
c.1230G= (p.Arg410=)
n.853G=
n.335-147G=
c.387G= (p.Arg129=)
n.248G=
c.335-147G= (n.335-147G=)
c.1242G= (p.Arg414=)
c.1218G= (p.Arg406=)
c.1227G= (p.Arg409=)
c.1203G= (p.Arg401=)
c.1215G= (p.Arg405=)
1g.16996447C>GCA416061926ATP13A2c.1245G>C (p.Arg415=)
c.1230G>C (p.Arg410=)
n.853G>C
n.335-147G>C
c.387G>C (p.Arg129=)
n.248G>C
c.335-147G>C (n.335-147G>C)
c.1242G>C (p.Arg414=)
c.1218G>C (p.Arg406=)
c.1227G>C (p.Arg409=)
c.1203G>C (p.Arg401=)
c.1215G>C (p.Arg405=)
1g.16996447C>TCA416061927ATP13A2c.1245G>A (p.Arg415=)
c.1230G>A (p.Arg410=)
n.853G>A
n.335-147G>A
c.387G>A (p.Arg129=)
n.248G>A
c.335-147G>A (n.335-147G>A)
c.1242G>A (p.Arg414=)
c.1218G>A (p.Arg406=)
c.1227G>A (p.Arg409=)
c.1203G>A (p.Arg401=)
c.1215G>A (p.Arg405=)
 dbSNP gnomAD v2 gnomAD v4
1g.16996448C>ACA338254673ATP13A2c.1244G>T (p.Arg415Leu)
c.1229G>T (p.Arg410Leu)
n.852G>T
n.335-148G>T
c.386G>T (p.Arg129Leu)
n.247G>T
c.335-148G>T (n.335-148G>T)
c.1241G>T (p.Arg414Leu)
c.1217G>T (p.Arg406Leu)
c.1226G>T (p.Arg409Leu)
c.1202G>T (p.Arg401Leu)
c.1214G>T (p.Arg405Leu)
1g.16996448C=CA1143166144ATP13A2c.1244G= (p.Arg415=)
c.1229G= (p.Arg410=)
n.852G=
n.335-148G=
c.386G= (p.Arg129=)
n.247G=
c.335-148G= (n.335-148G=)
c.1241G= (p.Arg414=)
c.1217G= (p.Arg406=)
c.1226G= (p.Arg409=)
c.1202G= (p.Arg401=)
c.1214G= (p.Arg405=)
1g.16996448C>GCA338254676ATP13A2c.1244G>C (p.Arg415Pro)
c.1229G>C (p.Arg410Pro)
n.852G>C
n.335-148G>C
c.386G>C (p.Arg129Pro)
n.247G>C
c.335-148G>C (n.335-148G>C)
c.1241G>C (p.Arg414Pro)
c.1217G>C (p.Arg406Pro)
c.1226G>C (p.Arg409Pro)
c.1202G>C (p.Arg401Pro)
c.1214G>C (p.Arg405Pro)
1g.16996448C>TCA637304ATP13A2c.1244G>A (p.Arg415Gln)
c.1229G>A (p.Arg410Gln)
n.852G>A
n.335-148G>A
c.386G>A (p.Arg129Gln)
n.247G>A
c.335-148G>A (n.335-148G>A)
c.1241G>A (p.Arg414Gln)
c.1217G>A (p.Arg406Gln)
c.1226G>A (p.Arg409Gln)
c.1202G>A (p.Arg401Gln)
c.1214G>A (p.Arg405Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996448_16996449delinsCGCA1156031596ATP13A2c.1243_1244delinsCG (p.Arg415=)
c.1228_1229delinsCG (p.Arg410=)
n.851_852delinsCG
n.335-149_335-148delinsCG
c.385_386delinsCG (p.Arg129=)
n.246_247delinsCG
c.335-149_335-148delinsCG (n.335-149_335-148delinsCG)
c.1240_1241delinsCG (p.Arg414=)
c.1216_1217delinsCG (p.Arg406=)
c.1225_1226delinsCG (p.Arg409=)
c.1201_1202delinsCG (p.Arg401=)
c.1213_1214delinsCG (p.Arg405=)
1g.16996449G>ACA637305ATP13A2c.1243C>T (p.Arg415Trp)
c.1228C>T (p.Arg410Trp)
n.851C>T
n.335-149C>T
c.385C>T (p.Arg129Trp)
n.246C>T
c.335-149C>T (n.335-149C>T)
c.1240C>T (p.Arg414Trp)
c.1216C>T (p.Arg406Trp)
c.1225C>T (p.Arg409Trp)
c.1201C>T (p.Arg401Trp)
c.1213C>T (p.Arg405Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996449G>CCA338254680ATP13A2c.1243C>G (p.Arg415Gly)
c.1228C>G (p.Arg410Gly)
n.851C>G
n.335-149C>G
c.385C>G (p.Arg129Gly)
n.246C>G
c.335-149C>G (n.335-149C>G)
c.1240C>G (p.Arg414Gly)
c.1216C>G (p.Arg406Gly)
c.1225C>G (p.Arg409Gly)
c.1201C>G (p.Arg401Gly)
c.1213C>G (p.Arg405Gly)
1g.16996449G=CA1156031618ATP13A2c.1243C= (p.Arg415=)
c.1228C= (p.Arg410=)
n.851C=
n.335-149C=
c.385C= (p.Arg129=)
n.246C=
c.335-149C= (n.335-149C=)
c.1240C= (p.Arg414=)
c.1216C= (p.Arg406=)
c.1225C= (p.Arg409=)
c.1201C= (p.Arg401=)
c.1213C= (p.Arg405=)
1g.16996449G>TCA637306ATP13A2c.1243C>A (p.Arg415=)
c.1228C>A (p.Arg410=)
n.851C>A
n.335-149C>A
c.385C>A (p.Arg129=)
n.246C>A
c.335-149C>A (n.335-149C>A)
c.1240C>A (p.Arg414=)
c.1216C>A (p.Arg406=)
c.1225C>A (p.Arg409=)
c.1201C>A (p.Arg401=)
c.1213C>A (p.Arg405=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996453delCA890918810ATP13A2c.1243del (p.Arg415GlyfsTer12)
c.1228del (p.Arg410GlyfsTer12)
n.851del
n.335-149del
c.385del (p.Arg129GlyfsTer12)
n.246del
c.335-149del (n.335-149del)
c.1240del (p.Arg414GlyfsTer12)
c.1216del (p.Arg406GlyfsTer12)
c.1225del (p.Arg409GlyfsTer12)
c.1201del (p.Arg401GlyfsTer12)
c.1213del (p.Arg405GlyfsTer12)
 dbSNP
1g.16996450G>ACA416061943ATP13A2c.1242C>T (p.Pro414=)
c.1227C>T (p.Pro409=)
n.850C>T
n.335-150C>T
c.384C>T (p.Pro128=)
n.245C>T
c.335-150C>T (n.335-150C>T)
c.1239C>T (p.Pro413=)
c.1215C>T (p.Pro405=)
c.1224C>T (p.Pro408=)
c.1200C>T (p.Pro400=)
c.1212C>T (p.Pro404=)
1g.16996450G>CCA416061944ATP13A2c.1242C>G (p.Pro414=)
c.1227C>G (p.Pro409=)
n.850C>G
n.335-150C>G
c.384C>G (p.Pro128=)
n.245C>G
c.335-150C>G (n.335-150C>G)
c.1239C>G (p.Pro413=)
c.1215C>G (p.Pro405=)
c.1224C>G (p.Pro408=)
c.1200C>G (p.Pro400=)
c.1212C>G (p.Pro404=)
1g.16996450G>TCA416061947ATP13A2c.1242C>A (p.Pro414=)
c.1227C>A (p.Pro409=)
n.850C>A
n.335-150C>A
c.384C>A (p.Pro128=)
n.245C>A
c.335-150C>A (n.335-150C>A)
c.1239C>A (p.Pro413=)
c.1215C>A (p.Pro405=)
c.1224C>A (p.Pro408=)
c.1200C>A (p.Pro400=)
c.1212C>A (p.Pro404=)
1g.16996451G>ACA338254689ATP13A2c.1241C>T (p.Pro414Leu)
c.1226C>T (p.Pro409Leu)
n.849C>T
n.335-151C>T
c.383C>T (p.Pro128Leu)
n.244C>T
c.335-151C>T (n.335-151C>T)
c.1238C>T (p.Pro413Leu)
c.1214C>T (p.Pro405Leu)
c.1223C>T (p.Pro408Leu)
c.1199C>T (p.Pro400Leu)
c.1211C>T (p.Pro404Leu)
 gnomAD v4
1g.16996451G>CCA338254692ATP13A2c.1241C>G (p.Pro414Arg)
c.1226C>G (p.Pro409Arg)
n.849C>G
n.335-151C>G
c.383C>G (p.Pro128Arg)
n.244C>G
c.335-151C>G (n.335-151C>G)
c.1238C>G (p.Pro413Arg)
c.1214C>G (p.Pro405Arg)
c.1223C>G (p.Pro408Arg)
c.1199C>G (p.Pro400Arg)
c.1211C>G (p.Pro404Arg)
1g.16996451G>TCA338254695ATP13A2c.1241C>A (p.Pro414His)
c.1226C>A (p.Pro409His)
n.849C>A
n.335-151C>A
c.383C>A (p.Pro128His)
n.244C>A
c.335-151C>A (n.335-151C>A)
c.1238C>A (p.Pro413His)
c.1214C>A (p.Pro405His)
c.1223C>A (p.Pro408His)
c.1199C>A (p.Pro400His)
c.1211C>A (p.Pro404His)
1g.16996452G>ACA338254704ATP13A2c.1240C>T (p.Pro414Ser)
c.1225C>T (p.Pro409Ser)
n.848C>T
n.335-152C>T
c.382C>T (p.Pro128Ser)
n.243C>T
c.335-152C>T (n.335-152C>T)
c.1237C>T (p.Pro413Ser)
c.1213C>T (p.Pro405Ser)
c.1222C>T (p.Pro408Ser)
c.1198C>T (p.Pro400Ser)
c.1210C>T (p.Pro404Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16996452G>CCA338254698ATP13A2c.1240C>G (p.Pro414Ala)
c.1225C>G (p.Pro409Ala)
n.848C>G
n.335-152C>G
c.382C>G (p.Pro128Ala)
n.243C>G
c.335-152C>G (n.335-152C>G)
c.1237C>G (p.Pro413Ala)
c.1213C>G (p.Pro405Ala)
c.1222C>G (p.Pro408Ala)
c.1198C>G (p.Pro400Ala)
c.1210C>G (p.Pro404Ala)
1g.16996452G=CA1156031627ATP13A2c.1240C= (p.Pro414=)
c.1225C= (p.Pro409=)
n.848C=
n.335-152C=
c.382C= (p.Pro128=)
n.243C=
c.335-152C= (n.335-152C=)
c.1237C= (p.Pro413=)
c.1213C= (p.Pro405=)
c.1222C= (p.Pro408=)
c.1198C= (p.Pro400=)
c.1210C= (p.Pro404=)
1g.16996452G>TCA338254701ATP13A2c.1240C>A (p.Pro414Thr)
c.1225C>A (p.Pro409Thr)
n.848C>A
n.335-152C>A
c.382C>A (p.Pro128Thr)
n.243C>A
c.335-152C>A (n.335-152C>A)
c.1237C>A (p.Pro413Thr)
c.1213C>A (p.Pro405Thr)
c.1222C>A (p.Pro408Thr)
c.1198C>A (p.Pro400Thr)
c.1210C>A (p.Pro404Thr)
1g.16996453G>ACA416061959ATP13A2c.1239C>T (p.His413=)
c.1224C>T (p.His408=)
n.847C>T
n.335-153C>T
c.381C>T (p.His127=)
n.242C>T
c.335-153C>T (n.335-153C>T)
c.1236C>T (p.His412=)
c.1212C>T (p.His404=)
c.1221C>T (p.His407=)
c.1197C>T (p.His399=)
c.1209C>T (p.His403=)
 dbSNP gnomAD v4
1g.16996453G>CCA338254705ATP13A2c.1239C>G (p.His413Gln)
c.1224C>G (p.His408Gln)
n.847C>G
n.335-153C>G
c.381C>G (p.His127Gln)
n.242C>G
c.335-153C>G (n.335-153C>G)
c.1236C>G (p.His412Gln)
c.1212C>G (p.His404Gln)
c.1221C>G (p.His407Gln)
c.1197C>G (p.His399Gln)
c.1209C>G (p.His403Gln)
1g.16996453G=CA1156031633ATP13A2c.1239C= (p.His413=)
c.1224C= (p.His408=)
n.847C=
n.335-153C=
c.381C= (p.His127=)
n.242C=
c.335-153C= (n.335-153C=)
c.1236C= (p.His412=)
c.1212C= (p.His404=)
c.1221C= (p.His407=)
c.1197C= (p.His399=)
c.1209C= (p.His403=)
1g.16996453G>TCA338254706ATP13A2c.1239C>A (p.His413Gln)
c.1224C>A (p.His408Gln)
n.847C>A
n.335-153C>A
c.381C>A (p.His127Gln)
n.242C>A
c.335-153C>A (n.335-153C>A)
c.1236C>A (p.His412Gln)
c.1212C>A (p.His404Gln)
c.1221C>A (p.His407Gln)
c.1197C>A (p.His399Gln)
c.1209C>A (p.His403Gln)
 ClinVar dbSNP gnomAD v2 COSMIC COSMIC
1g.16996454T>ACA338254707ATP13A2c.1238A>T (p.His413Leu)
c.1223A>T (p.His408Leu)
n.846A>T
n.335-154A>T
c.380A>T (p.His127Leu)
n.241A>T
c.335-154A>T (n.335-154A>T)
c.1235A>T (p.His412Leu)
c.1211A>T (p.His404Leu)
c.1220A>T (p.His407Leu)
c.1196A>T (p.His399Leu)
c.1208A>T (p.His403Leu)
1g.16996454T>CCA338254708ATP13A2c.1238A>G (p.His413Arg)
c.1223A>G (p.His408Arg)
n.846A>G
n.335-154A>G
c.380A>G (p.His127Arg)
n.241A>G
c.335-154A>G (n.335-154A>G)
c.1235A>G (p.His412Arg)
c.1211A>G (p.His404Arg)
c.1220A>G (p.His407Arg)
c.1196A>G (p.His399Arg)
c.1208A>G (p.His403Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16996454T>GCA338254710ATP13A2c.1238A>C (p.His413Pro)
c.1223A>C (p.His408Pro)
n.846A>C
n.335-154A>C
c.380A>C (p.His127Pro)
n.241A>C
c.335-154A>C (n.335-154A>C)
c.1235A>C (p.His412Pro)
c.1211A>C (p.His404Pro)
c.1220A>C (p.His407Pro)
c.1196A>C (p.His399Pro)
c.1208A>C (p.His403Pro)
1g.16996454T=CA1156031643ATP13A2c.1238A= (p.His413=)
c.1223A= (p.His408=)
n.846A=
n.335-154A=
c.380A= (p.His127=)
n.241A=
c.335-154A= (n.335-154A=)
c.1235A= (p.His412=)
c.1211A= (p.His404=)
c.1220A= (p.His407=)
c.1196A= (p.His399=)
c.1208A= (p.His403=)
1g.16996455G>ACA338254714ATP13A2c.1237C>T (p.His413Tyr)
c.1222C>T (p.His408Tyr)
n.845C>T
n.335-155C>T
c.379C>T (p.His127Tyr)
n.240C>T
c.335-155C>T (n.335-155C>T)
c.1234C>T (p.His412Tyr)
c.1210C>T (p.His404Tyr)
c.1219C>T (p.His407Tyr)
c.1195C>T (p.His399Tyr)
c.1207C>T (p.His403Tyr)
 ClinVar dbSNP gnomAD v4
1g.16996455G>CCA338254712ATP13A2c.1237C>G (p.His413Asp)
c.1222C>G (p.His408Asp)
n.845C>G
n.335-155C>G
c.379C>G (p.His127Asp)
n.240C>G
c.335-155C>G (n.335-155C>G)
c.1234C>G (p.His412Asp)
c.1210C>G (p.His404Asp)
c.1219C>G (p.His407Asp)
c.1195C>G (p.His399Asp)
c.1207C>G (p.His403Asp)
1g.16996455G=CA1156031650ATP13A2c.1237C= (p.His413=)
c.1222C= (p.His408=)
n.845C=
n.335-155C=
c.379C= (p.His127=)
n.240C=
c.335-155C= (n.335-155C=)
c.1234C= (p.His412=)
c.1210C= (p.His404=)
c.1219C= (p.His407=)
c.1195C= (p.His399=)
c.1207C= (p.His403=)
1g.16996455G>TCA338254713ATP13A2c.1237C>A (p.His413Asn)
c.1222C>A (p.His408Asn)
n.845C>A
n.335-155C>A
c.379C>A (p.His127Asn)
n.240C>A
c.335-155C>A (n.335-155C>A)
c.1234C>A (p.His412Asn)
c.1210C>A (p.His404Asn)
c.1219C>A (p.His407Asn)
c.1195C>A (p.His399Asn)
c.1207C>A (p.His403Asn)
1g.16996456C>ACA338254715ATP13A2c.1236G>T (p.Leu412Phe)
c.1221G>T (p.Leu407Phe)
n.844G>T
n.335-156G>T
c.378G>T (p.Leu126Phe)
n.239G>T
c.335-156G>T (n.335-156G>T)
c.1233G>T (p.Leu411Phe)
c.1209G>T (p.Leu403Phe)
c.1218G>T (p.Leu406Phe)
c.1194G>T (p.Leu398Phe)
c.1206G>T (p.Leu402Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.16996456C=CA1156031653ATP13A2c.1236G= (p.Leu412=)
c.1221G= (p.Leu407=)
n.844G=
n.335-156G=
c.378G= (p.Leu126=)
n.239G=
c.335-156G= (n.335-156G=)
c.1233G= (p.Leu411=)
c.1209G= (p.Leu403=)
c.1218G= (p.Leu406=)
c.1194G= (p.Leu398=)
c.1206G= (p.Leu402=)
1g.16996456C>GCA338254716ATP13A2c.1236G>C (p.Leu412Phe)
c.1221G>C (p.Leu407Phe)
n.844G>C
n.335-156G>C
c.378G>C (p.Leu126Phe)
n.239G>C
c.335-156G>C (n.335-156G>C)
c.1233G>C (p.Leu411Phe)
c.1209G>C (p.Leu403Phe)
c.1218G>C (p.Leu406Phe)
c.1194G>C (p.Leu398Phe)
c.1206G>C (p.Leu402Phe)
 gnomAD v4
1g.16996456C>TCA416061979ATP13A2c.1236G>A (p.Leu412=)
c.1221G>A (p.Leu407=)
n.844G>A
n.335-156G>A
c.378G>A (p.Leu126=)
n.239G>A
c.335-156G>A (n.335-156G>A)
c.1233G>A (p.Leu411=)
c.1209G>A (p.Leu403=)
c.1218G>A (p.Leu406=)
c.1194G>A (p.Leu398=)
c.1206G>A (p.Leu402=)
 dbSNP
1g.16996457A>CCA338254717ATP13A2c.1235T>G (p.Leu412Trp)
c.1220T>G (p.Leu407Trp)
n.843T>G
n.335-157T>G
c.377T>G (p.Leu126Trp)
n.238T>G
c.335-157T>G (n.335-157T>G)
c.1232T>G (p.Leu411Trp)
c.1208T>G (p.Leu403Trp)
c.1217T>G (p.Leu406Trp)
c.1193T>G (p.Leu398Trp)
c.1205T>G (p.Leu402Trp)
1g.16996457A>GCA338254718ATP13A2c.1235T>C (p.Leu412Ser)
c.1220T>C (p.Leu407Ser)
n.843T>C
n.335-157T>C
c.377T>C (p.Leu126Ser)
n.238T>C
c.335-157T>C (n.335-157T>C)
c.1232T>C (p.Leu411Ser)
c.1208T>C (p.Leu403Ser)
c.1217T>C (p.Leu406Ser)
c.1193T>C (p.Leu398Ser)
c.1205T>C (p.Leu402Ser)
1g.16996457A>TCA338254721ATP13A2c.1235T>A (p.Leu412Ter)
c.1220T>A (p.Leu407Ter)
n.843T>A
n.335-157T>A
c.377T>A (p.Leu126Ter)
n.238T>A
c.335-157T>A (n.335-157T>A)
c.1232T>A (p.Leu411Ter)
c.1208T>A (p.Leu403Ter)
c.1217T>A (p.Leu406Ter)
c.1193T>A (p.Leu398Ter)
c.1205T>A (p.Leu402Ter)
1g.16996458A=CA1156031660ATP13A2c.1234T= (p.Leu412=)
c.1219T= (p.Leu407=)
n.842T=
n.335-158T=
c.376T= (p.Leu126=)
n.237T=
c.335-158T= (n.335-158T=)
c.1231T= (p.Leu411=)
c.1207T= (p.Leu403=)
c.1216T= (p.Leu406=)
c.1192T= (p.Leu398=)
c.1204T= (p.Leu402=)
1g.16996458A>CCA338254731ATP13A2c.1234T>G (p.Leu412Val)
c.1219T>G (p.Leu407Val)
n.842T>G
n.335-158T>G
c.376T>G (p.Leu126Val)
n.237T>G
c.335-158T>G (n.335-158T>G)
c.1231T>G (p.Leu411Val)
c.1207T>G (p.Leu403Val)
c.1216T>G (p.Leu406Val)
c.1192T>G (p.Leu398Val)
c.1204T>G (p.Leu402Val)
1g.16996458A>GCA416061986ATP13A2c.1234T>C (p.Leu412=)
c.1219T>C (p.Leu407=)
n.842T>C
n.335-158T>C
c.376T>C (p.Leu126=)
n.237T>C
c.335-158T>C (n.335-158T>C)
c.1231T>C (p.Leu411=)
c.1207T>C (p.Leu403=)
c.1216T>C (p.Leu406=)
c.1192T>C (p.Leu398=)
c.1204T>C (p.Leu402=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.16996458A>TCA338254739ATP13A2c.1234T>A (p.Leu412Met)
c.1219T>A (p.Leu407Met)
n.842T>A
n.335-158T>A
c.376T>A (p.Leu126Met)
n.237T>A
c.335-158T>A (n.335-158T>A)
c.1231T>A (p.Leu411Met)
c.1207T>A (p.Leu403Met)
c.1216T>A (p.Leu406Met)
c.1192T>A (p.Leu398Met)
c.1204T>A (p.Leu402Met)
1g.16996459G>ACA416061988ATP13A2c.1233C>T (p.Ile411=)
c.1218C>T (p.Ile406=)
n.841C>T
n.335-159C>T
c.375C>T (p.Ile125=)
n.236C>T
c.335-159C>T (n.335-159C>T)
c.1230C>T (p.Ile410=)
c.1206C>T (p.Ile402=)
c.1215C>T (p.Ile405=)
c.1191C>T (p.Ile397=)
c.1203C>T (p.Ile401=)
1g.16996459G>CCA338254742ATP13A2c.1233C>G (p.Ile411Met)
c.1218C>G (p.Ile406Met)
n.841C>G
n.335-159C>G
c.375C>G (p.Ile125Met)
n.236C>G
c.335-159C>G (n.335-159C>G)
c.1230C>G (p.Ile410Met)
c.1206C>G (p.Ile402Met)
c.1215C>G (p.Ile405Met)
c.1191C>G (p.Ile397Met)
c.1203C>G (p.Ile401Met)
 dbSNP gnomAD v2 gnomAD v4
1g.16996459G=CA1148886465ATP13A2c.1233C= (p.Ile411=)
c.1218C= (p.Ile406=)
n.841C=
n.335-159C=
c.375C= (p.Ile125=)
n.236C=
c.335-159C= (n.335-159C=)
c.1230C= (p.Ile410=)
c.1206C= (p.Ile402=)
c.1215C= (p.Ile405=)
c.1191C= (p.Ile397=)
c.1203C= (p.Ile401=)
1g.16996459G>TCA637307ATP13A2c.1233C>A (p.Ile411=)
c.1218C>A (p.Ile406=)
n.841C>A
n.335-159C>A
c.375C>A (p.Ile125=)
n.236C>A
c.335-159C>A (n.335-159C>A)
c.1230C>A (p.Ile410=)
c.1206C>A (p.Ile402=)
c.1215C>A (p.Ile405=)
c.1191C>A (p.Ile397=)
c.1203C>A (p.Ile401=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996460A>CCA338254768ATP13A2c.1232T>G (p.Ile411Ser)
c.1217T>G (p.Ile406Ser)
n.840T>G
n.335-160T>G
c.374T>G (p.Ile125Ser)
n.235T>G
c.335-160T>G (n.335-160T>G)
c.1229T>G (p.Ile410Ser)
c.1205T>G (p.Ile402Ser)
c.1214T>G (p.Ile405Ser)
c.1190T>G (p.Ile397Ser)
c.1202T>G (p.Ile401Ser)
1g.16996460A>GCA338254769ATP13A2c.1232T>C (p.Ile411Thr)
c.1217T>C (p.Ile406Thr)
n.840T>C
n.335-160T>C
c.374T>C (p.Ile125Thr)
n.235T>C
c.335-160T>C (n.335-160T>C)
c.1229T>C (p.Ile410Thr)
c.1205T>C (p.Ile402Thr)
c.1214T>C (p.Ile405Thr)
c.1190T>C (p.Ile397Thr)
c.1202T>C (p.Ile401Thr)
 gnomAD v4
1g.16996460A>TCA338254770ATP13A2c.1232T>A (p.Ile411Asn)
c.1217T>A (p.Ile406Asn)
n.840T>A
n.335-160T>A
c.374T>A (p.Ile125Asn)
n.235T>A
c.335-160T>A (n.335-160T>A)
c.1229T>A (p.Ile410Asn)
c.1205T>A (p.Ile402Asn)
c.1214T>A (p.Ile405Asn)
c.1190T>A (p.Ile397Asn)
c.1202T>A (p.Ile401Asn)
1g.16996461T>ACA338254771ATP13A2c.1231A>T (p.Ile411Phe)
c.1216A>T (p.Ile406Phe)
n.839A>T
n.335-161A>T
c.373A>T (p.Ile125Phe)
n.234A>T
c.335-161A>T (n.335-161A>T)
c.1228A>T (p.Ile410Phe)
c.1204A>T (p.Ile402Phe)
c.1213A>T (p.Ile405Phe)
c.1189A>T (p.Ile397Phe)
c.1201A>T (p.Ile401Phe)
1g.16996461T>CCA338254773ATP13A2c.1231A>G (p.Ile411Val)
c.1216A>G (p.Ile406Val)
n.839A>G
n.335-161A>G
c.373A>G (p.Ile125Val)
n.234A>G
c.335-161A>G (n.335-161A>G)
c.1228A>G (p.Ile410Val)
c.1204A>G (p.Ile402Val)
c.1213A>G (p.Ile405Val)
c.1189A>G (p.Ile397Val)
c.1201A>G (p.Ile401Val)
1g.16996461T>GCA338254772ATP13A2c.1231A>C (p.Ile411Leu)
c.1216A>C (p.Ile406Leu)
n.839A>C
n.335-161A>C
c.373A>C (p.Ile125Leu)
n.234A>C
c.335-161A>C (n.335-161A>C)
c.1228A>C (p.Ile410Leu)
c.1204A>C (p.Ile402Leu)
c.1213A>C (p.Ile405Leu)
c.1189A>C (p.Ile397Leu)
c.1201A>C (p.Ile401Leu)
1g.16996462G>ACA416062004ATP13A2c.1230C>T (p.Ser410=)
c.1215C>T (p.Ser405=)
n.838C>T
n.335-162C>T
c.372C>T (p.Ser124=)
n.233C>T
c.335-162C>T (n.335-162C>T)
c.1227C>T (p.Ser409=)
c.1203C>T (p.Ser401=)
c.1212C>T (p.Ser404=)
c.1188C>T (p.Ser396=)
c.1200C>T (p.Ser400=)
1g.16996462G>CCA416062005ATP13A2c.1230C>G (p.Ser410=)
c.1215C>G (p.Ser405=)
n.838C>G
n.335-162C>G
c.372C>G (p.Ser124=)
n.233C>G
c.335-162C>G (n.335-162C>G)
c.1227C>G (p.Ser409=)
c.1203C>G (p.Ser401=)
c.1212C>G (p.Ser404=)
c.1188C>G (p.Ser396=)
c.1200C>G (p.Ser400=)
1g.16996462G>TCA416062006ATP13A2c.1230C>A (p.Ser410=)
c.1215C>A (p.Ser405=)
n.838C>A
n.335-162C>A
c.372C>A (p.Ser124=)
n.233C>A
c.335-162C>A (n.335-162C>A)
c.1227C>A (p.Ser409=)
c.1203C>A (p.Ser401=)
c.1212C>A (p.Ser404=)
c.1188C>A (p.Ser396=)
c.1200C>A (p.Ser400=)
1g.16996463G>ACA338254775ATP13A2c.1229C>T (p.Ser410Phe)
c.1214C>T (p.Ser405Phe)
n.837C>T
n.335-163C>T
c.371C>T (p.Ser124Phe)
n.232C>T
c.335-163C>T (n.335-163C>T)
c.1226C>T (p.Ser409Phe)
c.1202C>T (p.Ser401Phe)
c.1211C>T (p.Ser404Phe)
c.1187C>T (p.Ser396Phe)
c.1199C>T (p.Ser400Phe)
 gnomAD v4
1g.16996463G>CCA338254776ATP13A2c.1229C>G (p.Ser410Cys)
c.1214C>G (p.Ser405Cys)
n.837C>G
n.335-163C>G
c.371C>G (p.Ser124Cys)
n.232C>G
c.335-163C>G (n.335-163C>G)
c.1226C>G (p.Ser409Cys)
c.1202C>G (p.Ser401Cys)
c.1211C>G (p.Ser404Cys)
c.1187C>G (p.Ser396Cys)
c.1199C>G (p.Ser400Cys)
1g.16996463G>TCA338254778ATP13A2c.1229C>A (p.Ser410Tyr)
c.1214C>A (p.Ser405Tyr)
n.837C>A
n.335-163C>A
c.371C>A (p.Ser124Tyr)
n.232C>A
c.335-163C>A (n.335-163C>A)
c.1226C>A (p.Ser409Tyr)
c.1202C>A (p.Ser401Tyr)
c.1211C>A (p.Ser404Tyr)
c.1187C>A (p.Ser396Tyr)
c.1199C>A (p.Ser400Tyr)
 gnomAD v4
1g.16996464A>CCA338254779ATP13A2c.1228T>G (p.Ser410Ala)
c.1213T>G (p.Ser405Ala)
n.836T>G
n.335-164T>G
c.370T>G (p.Ser124Ala)
n.231T>G
c.335-164T>G (n.335-164T>G)
c.1225T>G (p.Ser409Ala)
c.1201T>G (p.Ser401Ala)
c.1210T>G (p.Ser404Ala)
c.1186T>G (p.Ser396Ala)
c.1198T>G (p.Ser400Ala)
1g.16996464A>GCA338254780ATP13A2c.1228T>C (p.Ser410Pro)
c.1213T>C (p.Ser405Pro)
n.836T>C
n.335-164T>C
c.370T>C (p.Ser124Pro)
n.231T>C
c.335-164T>C (n.335-164T>C)
c.1225T>C (p.Ser409Pro)
c.1201T>C (p.Ser401Pro)
c.1210T>C (p.Ser404Pro)
c.1186T>C (p.Ser396Pro)
c.1198T>C (p.Ser400Pro)
1g.16996464A>TCA338254782ATP13A2c.1228T>A (p.Ser410Thr)
c.1213T>A (p.Ser405Thr)
n.836T>A
n.335-164T>A
c.370T>A (p.Ser124Thr)
n.231T>A
c.335-164T>A (n.335-164T>A)
c.1225T>A (p.Ser409Thr)
c.1201T>A (p.Ser401Thr)
c.1210T>A (p.Ser404Thr)
c.1186T>A (p.Ser396Thr)
c.1198T>A (p.Ser400Thr)
1g.16996465G>ACA416062014ATP13A2c.1227C>T (p.Ser409=)
c.1212C>T (p.Ser404=)
n.835C>T
n.335-165C>T
c.369C>T (p.Ser123=)
n.230C>T
c.335-165C>T (n.335-165C>T)
c.1224C>T (p.Ser408=)
c.1200C>T (p.Ser400=)
c.1209C>T (p.Ser403=)
c.1185C>T (p.Ser395=)
c.1197C>T (p.Ser399=)
 dbSNP gnomAD v3 gnomAD v4
1g.16996465G>CCA338254785ATP13A2c.1227C>G (p.Ser409Arg)
c.1212C>G (p.Ser404Arg)
n.835C>G
n.335-165C>G
c.369C>G (p.Ser123Arg)
n.230C>G
c.335-165C>G (n.335-165C>G)
c.1224C>G (p.Ser408Arg)
c.1200C>G (p.Ser400Arg)
c.1209C>G (p.Ser403Arg)
c.1185C>G (p.Ser395Arg)
c.1197C>G (p.Ser399Arg)
 ClinVar
1g.16996465G=CA1156031671ATP13A2c.1227C= (p.Ser409=)
c.1212C= (p.Ser404=)
n.835C=
n.335-165C=
c.369C= (p.Ser123=)
n.230C=
c.335-165C= (n.335-165C=)
c.1224C= (p.Ser408=)
c.1200C= (p.Ser400=)
c.1209C= (p.Ser403=)
c.1185C= (p.Ser395=)
c.1197C= (p.Ser399=)
1g.16996465G>TCA338254787ATP13A2c.1227C>A (p.Ser409Arg)
c.1212C>A (p.Ser404Arg)
n.835C>A
n.335-165C>A
c.369C>A (p.Ser123Arg)
n.230C>A
c.335-165C>A (n.335-165C>A)
c.1224C>A (p.Ser408Arg)
c.1200C>A (p.Ser400Arg)
c.1209C>A (p.Ser403Arg)
c.1185C>A (p.Ser395Arg)
c.1197C>A (p.Ser399Arg)
 COSMIC COSMIC
1g.16996466C>ACA338254788ATP13A2c.1226G>T (p.Ser409Ile)
c.1211G>T (p.Ser404Ile)
n.834G>T
n.335-166G>T
c.368G>T (p.Ser123Ile)
n.229G>T
c.335-166G>T (n.335-166G>T)
c.1223G>T (p.Ser408Ile)
c.1199G>T (p.Ser400Ile)
c.1208G>T (p.Ser403Ile)
c.1184G>T (p.Ser395Ile)
c.1196G>T (p.Ser399Ile)
1g.16996466C=CA1156031673ATP13A2c.1226G= (p.Ser409=)
c.1211G= (p.Ser404=)
n.834G=
n.335-166G=
c.368G= (p.Ser123=)
n.229G=
c.335-166G= (n.335-166G=)
c.1223G= (p.Ser408=)
c.1199G= (p.Ser400=)
c.1208G= (p.Ser403=)
c.1184G= (p.Ser395=)
c.1196G= (p.Ser399=)
1g.16996466C>GCA338254790ATP13A2c.1226G>C (p.Ser409Thr)
c.1211G>C (p.Ser404Thr)
n.834G>C
n.335-166G>C
c.368G>C (p.Ser123Thr)
n.229G>C
c.335-166G>C (n.335-166G>C)
c.1223G>C (p.Ser408Thr)
c.1199G>C (p.Ser400Thr)
c.1208G>C (p.Ser403Thr)
c.1184G>C (p.Ser395Thr)
c.1196G>C (p.Ser399Thr)
 dbSNP
1g.16996466C>TCA338254792ATP13A2c.1226G>A (p.Ser409Asn)
c.1211G>A (p.Ser404Asn)
n.834G>A
n.335-166G>A
c.368G>A (p.Ser123Asn)
n.229G>A
c.335-166G>A (n.335-166G>A)
c.1223G>A (p.Ser408Asn)
c.1199G>A (p.Ser400Asn)
c.1208G>A (p.Ser403Asn)
c.1184G>A (p.Ser395Asn)
c.1196G>A (p.Ser399Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.16996466_16996469delinsCTCACA1156031676ATP13A2c.1223_1226delinsTGAG (p.Val408=)
c.1208_1211delinsTGAG (p.Val403=)
n.831_834delinsTGAG
n.335-169_335-166delinsTGAG
c.365_368delinsTGAG (p.Val122=)
n.226_229delinsTGAG
c.335-169_335-166delinsTGAG (n.335-169_335-166delinsTGAG)
c.1220_1223delinsTGAG (p.Val407=)
c.1196_1199delinsTGAG (p.Val399=)
c.1205_1208delinsTGAG (p.Val402=)
c.1181_1184delinsTGAG (p.Val394=)
c.1193_1196delinsTGAG (p.Val398=)
1g.16996467T>ACA338254800ATP13A2c.1225A>T (p.Ser409Cys)
c.1210A>T (p.Ser404Cys)
n.833A>T
n.335-167A>T
c.367A>T (p.Ser123Cys)
n.228A>T
c.335-167A>T (n.335-167A>T)
c.1222A>T (p.Ser408Cys)
c.1198A>T (p.Ser400Cys)
c.1207A>T (p.Ser403Cys)
c.1183A>T (p.Ser395Cys)
c.1195A>T (p.Ser399Cys)
1g.16996467T>CCA338254795ATP13A2c.1225A>G (p.Ser409Gly)
c.1210A>G (p.Ser404Gly)
n.833A>G
n.335-167A>G
c.367A>G (p.Ser123Gly)
n.228A>G
c.335-167A>G (n.335-167A>G)
c.1222A>G (p.Ser408Gly)
c.1198A>G (p.Ser400Gly)
c.1207A>G (p.Ser403Gly)
c.1183A>G (p.Ser395Gly)
c.1195A>G (p.Ser399Gly)
1g.16996467T>GCA338254793ATP13A2c.1225A>C (p.Ser409Arg)
c.1210A>C (p.Ser404Arg)
n.833A>C
n.335-167A>C
c.367A>C (p.Ser123Arg)
n.228A>C
c.335-167A>C (n.335-167A>C)
c.1222A>C (p.Ser408Arg)
c.1198A>C (p.Ser400Arg)
c.1207A>C (p.Ser403Arg)
c.1183A>C (p.Ser395Arg)
c.1195A>C (p.Ser399Arg)
1g.16996467_16996469delCA999063667ATP13A2c.1223_1225del (p.Val408_Ser409delinsGly)
c.1208_1210del (p.Val403_Ser404delinsGly)
n.831_833del
n.335-169_335-167del
c.365_367del (p.Val122_Ser123delinsGly)
n.226_228del
c.335-169_335-167del (n.335-169_335-167del)
c.1220_1222del (p.Val407_Ser408delinsGly)
c.1196_1198del (p.Val399_Ser400delinsGly)
c.1205_1207del (p.Val402_Ser403delinsGly)
c.1181_1183del (p.Val394_Ser395delinsGly)
c.1193_1195del (p.Val398_Ser399delinsGly)
 dbSNP gnomAD v3 gnomAD v4
1g.16996468C>ACA416062023ATP13A2c.1224G>T (p.Val408=)
c.1209G>T (p.Val403=)
n.832G>T
n.335-168G>T
c.366G>T (p.Val122=)
n.227G>T
c.335-168G>T (n.335-168G>T)
c.1221G>T (p.Val407=)
c.1197G>T (p.Val399=)
c.1206G>T (p.Val402=)
c.1182G>T (p.Val394=)
c.1194G>T (p.Val398=)
1g.16996468C=CA1156031686ATP13A2c.1224G= (p.Val408=)
c.1209G= (p.Val403=)
n.832G=
n.335-168G=
c.366G= (p.Val122=)
n.227G=
c.335-168G= (n.335-168G=)
c.1221G= (p.Val407=)
c.1197G= (p.Val399=)
c.1206G= (p.Val402=)
c.1182G= (p.Val394=)
c.1194G= (p.Val398=)
1g.16996468C>GCA416062025ATP13A2c.1224G>C (p.Val408=)
c.1209G>C (p.Val403=)
n.832G>C
n.335-168G>C
c.366G>C (p.Val122=)
n.227G>C
c.335-168G>C (n.335-168G>C)
c.1221G>C (p.Val407=)
c.1197G>C (p.Val399=)
c.1206G>C (p.Val402=)
c.1182G>C (p.Val394=)
c.1194G>C (p.Val398=)
1g.16996468C>TCA637308ATP13A2c.1224G>A (p.Val408=)
c.1209G>A (p.Val403=)
n.832G>A
n.335-168G>A
c.366G>A (p.Val122=)
n.227G>A
c.335-168G>A (n.335-168G>A)
c.1221G>A (p.Val407=)
c.1197G>A (p.Val399=)
c.1206G>A (p.Val402=)
c.1182G>A (p.Val394=)
c.1194G>A (p.Val398=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996469A>CCA338254805ATP13A2c.1223T>G (p.Val408Gly)
c.1208T>G (p.Val403Gly)
n.831T>G
n.335-169T>G
c.365T>G (p.Val122Gly)
n.226T>G
c.335-169T>G (n.335-169T>G)
c.1220T>G (p.Val407Gly)
c.1196T>G (p.Val399Gly)
c.1205T>G (p.Val402Gly)
c.1181T>G (p.Val394Gly)
c.1193T>G (p.Val398Gly)
 gnomAD v4
1g.16996469A>GCA338254807ATP13A2c.1223T>C (p.Val408Ala)
c.1208T>C (p.Val403Ala)
n.831T>C
n.335-169T>C
c.365T>C (p.Val122Ala)
n.226T>C
c.335-169T>C (n.335-169T>C)
c.1220T>C (p.Val407Ala)
c.1196T>C (p.Val399Ala)
c.1205T>C (p.Val402Ala)
c.1181T>C (p.Val394Ala)
c.1193T>C (p.Val398Ala)
1g.16996469A>TCA338254809ATP13A2c.1223T>A (p.Val408Glu)
c.1208T>A (p.Val403Glu)
n.831T>A
n.335-169T>A
c.365T>A (p.Val122Glu)
n.226T>A
c.335-169T>A (n.335-169T>A)
c.1220T>A (p.Val407Glu)
c.1196T>A (p.Val399Glu)
c.1205T>A (p.Val402Glu)
c.1181T>A (p.Val394Glu)
c.1193T>A (p.Val398Glu)
1g.16996470C>ACA338254811ATP13A2c.1222G>T (p.Val408Leu)
c.1207G>T (p.Val403Leu)
n.830G>T
n.335-170G>T
c.364G>T (p.Val122Leu)
n.225G>T
c.335-170G>T (n.335-170G>T)
c.1219G>T (p.Val407Leu)
c.1195G>T (p.Val399Leu)
c.1204G>T (p.Val402Leu)
c.1180G>T (p.Val394Leu)
c.1192G>T (p.Val398Leu)
1g.16996470C>GCA338254813ATP13A2c.1222G>C (p.Val408Leu)
c.1207G>C (p.Val403Leu)
n.830G>C
n.335-170G>C
c.364G>C (p.Val122Leu)
n.225G>C
c.335-170G>C (n.335-170G>C)
c.1219G>C (p.Val407Leu)
c.1195G>C (p.Val399Leu)
c.1204G>C (p.Val402Leu)
c.1180G>C (p.Val394Leu)
c.1192G>C (p.Val398Leu)
1g.16996470C>TCA338254814ATP13A2c.1222G>A (p.Val408Met)
c.1207G>A (p.Val403Met)
n.830G>A
n.335-170G>A
c.364G>A (p.Val122Met)
n.225G>A
c.335-170G>A (n.335-170G>A)
c.1219G>A (p.Val407Met)
c.1195G>A (p.Val399Met)
c.1204G>A (p.Val402Met)
c.1180G>A (p.Val394Met)
c.1192G>A (p.Val398Met)
1g.16996471C>ACA416062037ATP13A2c.1221G>T (p.Leu407=)
c.1206G>T (p.Leu402=)
n.829G>T
n.335-171G>T
c.363G>T (p.Leu121=)
n.224G>T
c.335-171G>T (n.335-171G>T)
c.1218G>T (p.Leu406=)
c.1194G>T (p.Leu398=)
c.1203G>T (p.Leu401=)
c.1179G>T (p.Leu393=)
c.1191G>T (p.Leu397=)
1g.16996471C>GCA416062038ATP13A2c.1221G>C (p.Leu407=)
c.1206G>C (p.Leu402=)
n.829G>C
n.335-171G>C
c.363G>C (p.Leu121=)
n.224G>C
c.335-171G>C (n.335-171G>C)
c.1218G>C (p.Leu406=)
c.1194G>C (p.Leu398=)
c.1203G>C (p.Leu401=)
c.1179G>C (p.Leu393=)
c.1191G>C (p.Leu397=)
1g.16996471C>TCA416062040ATP13A2c.1221G>A (p.Leu407=)
c.1206G>A (p.Leu402=)
n.829G>A
n.335-171G>A
c.363G>A (p.Leu121=)
n.224G>A
c.335-171G>A (n.335-171G>A)
c.1218G>A (p.Leu406=)
c.1194G>A (p.Leu398=)
c.1203G>A (p.Leu401=)
c.1179G>A (p.Leu393=)
c.1191G>A (p.Leu397=)
1g.16996472A>CCA338254817ATP13A2c.1220T>G (p.Leu407Arg)
c.1205T>G (p.Leu402Arg)
n.828T>G
n.335-172T>G
c.362T>G (p.Leu121Arg)
n.223T>G
c.335-172T>G (n.335-172T>G)
c.1217T>G (p.Leu406Arg)
c.1193T>G (p.Leu398Arg)
c.1202T>G (p.Leu401Arg)
c.1178T>G (p.Leu393Arg)
c.1190T>G (p.Leu397Arg)
1g.16996472A>GCA338254818ATP13A2c.1220T>C (p.Leu407Pro)
c.1205T>C (p.Leu402Pro)
n.828T>C
n.335-172T>C
c.362T>C (p.Leu121Pro)
n.223T>C
c.335-172T>C (n.335-172T>C)
c.1217T>C (p.Leu406Pro)
c.1193T>C (p.Leu398Pro)
c.1202T>C (p.Leu401Pro)
c.1178T>C (p.Leu393Pro)
c.1190T>C (p.Leu397Pro)
1g.16996472A>TCA338254821ATP13A2c.1220T>A (p.Leu407Gln)
c.1205T>A (p.Leu402Gln)
n.828T>A
n.335-172T>A
c.362T>A (p.Leu121Gln)
n.223T>A
c.335-172T>A (n.335-172T>A)
c.1217T>A (p.Leu406Gln)
c.1193T>A (p.Leu398Gln)
c.1202T>A (p.Leu401Gln)
c.1178T>A (p.Leu393Gln)
c.1190T>A (p.Leu397Gln)
1g.16996473G>ACA416062048ATP13A2c.1219C>T (p.Leu407=)
c.1204C>T (p.Leu402=)
n.827C>T
n.335-173C>T
c.361C>T (p.Leu121=)
n.222C>T
c.335-173C>T (n.335-173C>T)
c.1216C>T (p.Leu406=)
c.1192C>T (p.Leu398=)
c.1201C>T (p.Leu401=)
c.1177C>T (p.Leu393=)
c.1189C>T (p.Leu397=)
1g.16996473G>CCA338254822ATP13A2c.1219C>G (p.Leu407Val)
c.1204C>G (p.Leu402Val)
n.827C>G
n.335-173C>G
c.361C>G (p.Leu121Val)
n.222C>G
c.335-173C>G (n.335-173C>G)
c.1216C>G (p.Leu406Val)
c.1192C>G (p.Leu398Val)
c.1201C>G (p.Leu401Val)
c.1177C>G (p.Leu393Val)
c.1189C>G (p.Leu397Val)
 dbSNP gnomAD v3 gnomAD v4
1g.16996473G=CA1156031690ATP13A2c.1219C= (p.Leu407=)
c.1204C= (p.Leu402=)
n.827C=
n.335-173C=
c.361C= (p.Leu121=)
n.222C=
c.335-173C= (n.335-173C=)
c.1216C= (p.Leu406=)
c.1192C= (p.Leu398=)
c.1201C= (p.Leu401=)
c.1177C= (p.Leu393=)
c.1189C= (p.Leu397=)
1g.16996473G>TCA637309ATP13A2c.1219C>A (p.Leu407Met)
c.1204C>A (p.Leu402Met)
n.827C>A
n.335-173C>A
c.361C>A (p.Leu121Met)
n.222C>A
c.335-173C>A (n.335-173C>A)
c.1216C>A (p.Leu406Met)
c.1192C>A (p.Leu398Met)
c.1201C>A (p.Leu401Met)
c.1177C>A (p.Leu393Met)
c.1189C>A (p.Leu397Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996474G>ACA18637564ATP13A2c.1218C>T (p.Gly406=)
c.1203C>T (p.Gly401=)
n.826C>T
n.335-174C>T
c.360C>T (p.Gly120=)
n.221C>T
c.335-174C>T (n.335-174C>T)
c.1215C>T (p.Gly405=)
c.1191C>T (p.Gly397=)
c.1200C>T (p.Gly400=)
c.1176C>T (p.Gly392=)
c.1188C>T (p.Gly396=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16996474G>CCA416062056ATP13A2c.1218C>G (p.Gly406=)
c.1203C>G (p.Gly401=)
n.826C>G
n.335-174C>G
c.360C>G (p.Gly120=)
n.221C>G
c.335-174C>G (n.335-174C>G)
c.1215C>G (p.Gly405=)
c.1191C>G (p.Gly397=)
c.1200C>G (p.Gly400=)
c.1176C>G (p.Gly392=)
c.1188C>G (p.Gly396=)
1g.16996474G=CA1156031693ATP13A2c.1218C= (p.Gly406=)
c.1203C= (p.Gly401=)
n.826C=
n.335-174C=
c.360C= (p.Gly120=)
n.221C=
c.335-174C= (n.335-174C=)
c.1215C= (p.Gly405=)
c.1191C= (p.Gly397=)
c.1200C= (p.Gly400=)
c.1176C= (p.Gly392=)
c.1188C= (p.Gly396=)
1g.16996474G>TCA18637565ATP13A2c.1218C>A (p.Gly406=)
c.1203C>A (p.Gly401=)
n.826C>A
n.335-174C>A
c.360C>A (p.Gly120=)
n.221C>A
c.335-174C>A (n.335-174C>A)
c.1215C>A (p.Gly405=)
c.1191C>A (p.Gly397=)
c.1200C>A (p.Gly400=)
c.1176C>A (p.Gly392=)
c.1188C>A (p.Gly396=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16996475C>ACA338254831ATP13A2c.1217G>T (p.Gly406Val)
c.1202G>T (p.Gly401Val)
n.825G>T
n.335-175G>T
c.359G>T (p.Gly120Val)
n.220G>T
c.335-175G>T (n.335-175G>T)
c.1214G>T (p.Gly405Val)
c.1190G>T (p.Gly397Val)
c.1199G>T (p.Gly400Val)
c.1175G>T (p.Gly392Val)
c.1187G>T (p.Gly396Val)
1g.16996475C>GCA338254829ATP13A2c.1217G>C (p.Gly406Ala)
c.1202G>C (p.Gly401Ala)
n.825G>C
n.335-175G>C
c.359G>C (p.Gly120Ala)
n.220G>C
c.335-175G>C (n.335-175G>C)
c.1214G>C (p.Gly405Ala)
c.1190G>C (p.Gly397Ala)
c.1199G>C (p.Gly400Ala)
c.1175G>C (p.Gly392Ala)
c.1187G>C (p.Gly396Ala)
1g.16996475C>TCA338254828ATP13A2c.1217G>A (p.Gly406Asp)
c.1202G>A (p.Gly401Asp)
n.825G>A
n.335-175G>A
c.359G>A (p.Gly120Asp)
n.220G>A
c.335-175G>A (n.335-175G>A)
c.1214G>A (p.Gly405Asp)
c.1190G>A (p.Gly397Asp)
c.1199G>A (p.Gly400Asp)
c.1175G>A (p.Gly392Asp)
c.1187G>A (p.Gly396Asp)
 gnomAD v4
1g.16996479dupCA2832535255ATP13A2c.1217dup (p.Leu407ProfsTer17)
c.1202dup (p.Leu402ProfsTer17)
n.825dup
n.335-175dup
c.359dup
n.220dup
c.335-175dup (n.335-175dup)
c.1214dup (p.Leu406ProfsTer17)
c.1190dup (p.Leu398ProfsTer17)
c.1199dup (p.Leu401ProfsTer17)
c.1175dup (p.Leu393ProfsTer17)
c.1187dup (p.Leu397ProfsTer17)
1g.16996478_16996479dupCA2832535256ATP13A2c.1216_1217dup (p.Leu407AlafsTer3)
c.1201_1202dup (p.Leu402AlafsTer3)
n.824_825dup
n.335-176_335-175dup
c.358_359dup
n.219_220dup
c.335-176_335-175dup (n.335-176_335-175dup)
c.1213_1214dup (p.Leu406AlafsTer3)
c.1189_1190dup (p.Leu398AlafsTer3)
c.1198_1199dup (p.Leu401AlafsTer3)
c.1174_1175dup (p.Leu393AlafsTer3)
c.1186_1187dup (p.Leu397AlafsTer3)
1g.16996476C>ACA338254835ATP13A2c.1216G>T (p.Gly406Cys)
c.1201G>T (p.Gly401Cys)
n.824G>T
n.335-176G>T
c.358G>T (p.Gly120Cys)
n.219G>T
c.335-176G>T (n.335-176G>T)
c.1213G>T (p.Gly405Cys)
c.1189G>T (p.Gly397Cys)
c.1198G>T (p.Gly400Cys)
c.1174G>T (p.Gly392Cys)
c.1186G>T (p.Gly396Cys)
 gnomAD v4
1g.16996476C>GCA338254833ATP13A2c.1216G>C (p.Gly406Arg)
c.1201G>C (p.Gly401Arg)
n.824G>C
n.335-176G>C
c.358G>C (p.Gly120Arg)
n.219G>C
c.335-176G>C (n.335-176G>C)
c.1213G>C (p.Gly405Arg)
c.1189G>C (p.Gly397Arg)
c.1198G>C (p.Gly400Arg)
c.1174G>C (p.Gly392Arg)
c.1186G>C (p.Gly396Arg)
1g.16996476C>TCA338254837ATP13A2c.1216G>A (p.Gly406Ser)
c.1201G>A (p.Gly401Ser)
n.824G>A
n.335-176G>A
c.358G>A (p.Gly120Ser)
n.219G>A
c.335-176G>A (n.335-176G>A)
c.1213G>A (p.Gly405Ser)
c.1189G>A (p.Gly397Ser)
c.1198G>A (p.Gly400Ser)
c.1174G>A (p.Gly392Ser)
c.1186G>A (p.Gly396Ser)
1g.16996477C>ACA637310ATP13A2c.1215G>T (p.Gly405=)
c.1200G>T (p.Gly400=)
n.823G>T
n.335-177G>T
c.357G>T (p.Gly119=)
n.218G>T
c.335-177G>T (n.335-177G>T)
c.1212G>T (p.Gly404=)
c.1188G>T (p.Gly396=)
c.1197G>T (p.Gly399=)
c.1173G>T (p.Gly391=)
c.1185G>T (p.Gly395=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996477C=CA1156031698ATP13A2c.1215G= (p.Gly405=)
c.1200G= (p.Gly400=)
n.823G=
n.335-177G=
c.357G= (p.Gly119=)
n.218G=
c.335-177G= (n.335-177G=)
c.1212G= (p.Gly404=)
c.1188G= (p.Gly396=)
c.1197G= (p.Gly399=)
c.1173G= (p.Gly391=)
c.1185G= (p.Gly395=)
1g.16996477C>GCA416062070ATP13A2c.1215G>C (p.Gly405=)
c.1200G>C (p.Gly400=)
n.823G>C
n.335-177G>C
c.357G>C (p.Gly119=)
n.218G>C
c.335-177G>C (n.335-177G>C)
c.1212G>C (p.Gly404=)
c.1188G>C (p.Gly396=)
c.1197G>C (p.Gly399=)
c.1173G>C (p.Gly391=)
c.1185G>C (p.Gly395=)
1g.16996477C>TCA637311ATP13A2c.1215G>A (p.Gly405=)
c.1200G>A (p.Gly400=)
n.823G>A
n.335-177G>A
c.357G>A (p.Gly119=)
n.218G>A
c.335-177G>A (n.335-177G>A)
c.1212G>A (p.Gly404=)
c.1188G>A (p.Gly396=)
c.1197G>A (p.Gly399=)
c.1173G>A (p.Gly391=)
c.1185G>A (p.Gly395=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996478C>ACA338254840ATP13A2c.1214G>T (p.Gly405Val)
c.1199G>T (p.Gly400Val)
n.822G>T
n.335-178G>T
c.356G>T (p.Gly119Val)
n.217G>T
c.335-178G>T (n.335-178G>T)
c.1211G>T (p.Gly404Val)
c.1187G>T (p.Gly396Val)
c.1196G>T (p.Gly399Val)
c.1172G>T (p.Gly391Val)
c.1184G>T (p.Gly395Val)
1g.16996478C=CA1156031705ATP13A2c.1214G= (p.Gly405=)
c.1199G= (p.Gly400=)
n.822G=
n.335-178G=
c.356G= (p.Gly119=)
n.217G=
c.335-178G= (n.335-178G=)
c.1211G= (p.Gly404=)
c.1187G= (p.Gly396=)
c.1196G= (p.Gly399=)
c.1172G= (p.Gly391=)
c.1184G= (p.Gly395=)
1g.16996478C>GCA338254843ATP13A2c.1214G>C (p.Gly405Ala)
c.1199G>C (p.Gly400Ala)
n.822G>C
n.335-178G>C
c.356G>C (p.Gly119Ala)
n.217G>C
c.335-178G>C (n.335-178G>C)
c.1211G>C (p.Gly404Ala)
c.1187G>C (p.Gly396Ala)
c.1196G>C (p.Gly399Ala)
c.1172G>C (p.Gly391Ala)
c.1184G>C (p.Gly395Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.16996478C>TCA338254841ATP13A2c.1214G>A (p.Gly405Glu)
c.1199G>A (p.Gly400Glu)
n.822G>A
n.335-178G>A
c.356G>A (p.Gly119Glu)
n.217G>A
c.335-178G>A (n.335-178G>A)
c.1211G>A (p.Gly404Glu)
c.1187G>A (p.Gly396Glu)
c.1196G>A (p.Gly399Glu)
c.1172G>A (p.Gly391Glu)
c.1184G>A (p.Gly395Glu)
 gnomAD v4
1g.16996479C>ACA338254846ATP13A2c.1213G>T (p.Gly405Trp)
c.1198G>T (p.Gly400Trp)
n.821G>T
n.335-179G>T
c.356-1G>T (n.356-1G>T)
n.216G>T
c.335-179G>T (n.335-179G>T)
c.1210G>T (p.Gly404Trp)
c.1186G>T (p.Gly396Trp)
c.1195G>T (p.Gly399Trp)
c.1171G>T (p.Gly391Trp)
c.1183G>T (p.Gly395Trp)
1g.16996479C>GCA338254850ATP13A2c.1213G>C (p.Gly405Arg)
c.1198G>C (p.Gly400Arg)
n.821G>C
n.335-179G>C
c.356-1G>C (n.356-1G>C)
n.216G>C
c.335-179G>C (n.335-179G>C)
c.1210G>C (p.Gly404Arg)
c.1186G>C (p.Gly396Arg)
c.1195G>C (p.Gly399Arg)
c.1171G>C (p.Gly391Arg)
c.1183G>C (p.Gly395Arg)
1g.16996479C>TCA338254847ATP13A2c.1213G>A (p.Gly405Arg)
c.1198G>A (p.Gly400Arg)
n.821G>A
n.335-179G>A
c.356-1G>A (n.356-1G>A)
n.216G>A
c.335-179G>A (n.335-179G>A)
c.1210G>A (p.Gly404Arg)
c.1186G>A (p.Gly396Arg)
c.1195G>A (p.Gly399Arg)
c.1171G>A (p.Gly391Arg)
c.1183G>A (p.Gly395Arg)
1g.16996480T>ACA338254851ATP13A2c.1212A>T (p.Lys404Asn)
c.1197A>T (p.Lys399Asn)
n.820A>T
n.335-180A>T
c.356-2A>T (n.356-2A>T)
n.215A>T
c.335-180A>T (n.335-180A>T)
c.1209A>T (p.Lys403Asn)
c.1185A>T (p.Lys395Asn)
c.1194A>T (p.Lys398Asn)
c.1170A>T (p.Lys390Asn)
c.1182A>T (p.Lys394Asn)
1g.16996480T>CCA338254853ATP13A2c.1212A>G (p.Lys404=)
c.1197A>G (p.Lys399=)
n.820A>G
n.335-180A>G
c.356-2A>G (n.356-2A>G)
n.215A>G
c.335-180A>G (n.335-180A>G)
c.1209A>G (p.Lys403=)
c.1185A>G (p.Lys395=)
c.1194A>G (p.Lys398=)
c.1170A>G (p.Lys390=)
c.1182A>G (p.Lys394=)
1g.16996480T>GCA338254852ATP13A2c.1212A>C (p.Lys404Asn)
c.1197A>C (p.Lys399Asn)
n.820A>C
n.335-180A>C
c.356-2A>C (n.356-2A>C)
n.215A>C
c.335-180A>C (n.335-180A>C)
c.1209A>C (p.Lys403Asn)
c.1185A>C (p.Lys395Asn)
c.1194A>C (p.Lys398Asn)
c.1170A>C (p.Lys390Asn)
c.1182A>C (p.Lys394Asn)
 gnomAD v4
1g.16996481T>ACA338254856ATP13A2c.1211A>T (p.Lys404Ile)
c.1196A>T (p.Lys399Ile)
n.819A>T
n.335-181A>T
c.356-3A>T (n.356-3A>T)
n.214A>T
c.335-181A>T (n.335-181A>T)
c.1208A>T (p.Lys403Ile)
c.1184A>T (p.Lys395Ile)
c.1193A>T (p.Lys398Ile)
c.1169A>T (p.Lys390Ile)
c.1181A>T (p.Lys394Ile)
1g.16996481T>CCA338254857ATP13A2c.1211A>G (p.Lys404Arg)
c.1196A>G (p.Lys399Arg)
n.819A>G
n.335-181A>G
c.356-3A>G (n.356-3A>G)
n.214A>G
c.335-181A>G (n.335-181A>G)
c.1208A>G (p.Lys403Arg)
c.1184A>G (p.Lys395Arg)
c.1193A>G (p.Lys398Arg)
c.1169A>G (p.Lys390Arg)
c.1181A>G (p.Lys394Arg)
1g.16996481T>GCA338254858ATP13A2c.1211A>C (p.Lys404Thr)
c.1196A>C (p.Lys399Thr)
n.819A>C
n.335-181A>C
c.356-3A>C (n.356-3A>C)
n.214A>C
c.335-181A>C (n.335-181A>C)
c.1208A>C (p.Lys403Thr)
c.1184A>C (p.Lys395Thr)
c.1193A>C (p.Lys398Thr)
c.1169A>C (p.Lys390Thr)
c.1181A>C (p.Lys394Thr)
1g.16996482T>ACA338254859ATP13A2c.1210A>T (p.Lys404Ter)
c.1195A>T (p.Lys399Ter)
n.818A>T
n.335-182A>T
c.356-4A>T (n.356-4A>T)
n.213A>T
c.335-182A>T (n.335-182A>T)
c.1207A>T (p.Lys403Ter)
c.1183A>T (p.Lys395Ter)
c.1192A>T (p.Lys398Ter)
c.1168A>T (p.Lys390Ter)
c.1180A>T (p.Lys394Ter)
1g.16996482T>CCA338254861ATP13A2c.1210A>G (p.Lys404Glu)
c.1195A>G (p.Lys399Glu)
n.818A>G
n.335-182A>G
c.356-4A>G (n.356-4A>G)
n.213A>G
c.335-182A>G (n.335-182A>G)
c.1207A>G (p.Lys403Glu)
c.1183A>G (p.Lys395Glu)
c.1192A>G (p.Lys398Glu)
c.1168A>G (p.Lys390Glu)
c.1180A>G (p.Lys394Glu)
1g.16996482T>GCA338254863ATP13A2c.1210A>C (p.Lys404Gln)
c.1195A>C (p.Lys399Gln)
n.818A>C
n.335-182A>C
c.356-4A>C (n.356-4A>C)
n.213A>C
c.335-182A>C (n.335-182A>C)
c.1207A>C (p.Lys403Gln)
c.1183A>C (p.Lys395Gln)
c.1192A>C (p.Lys398Gln)
c.1168A>C (p.Lys390Gln)
c.1180A>C (p.Lys394Gln)
1g.16996483T>ACA416062085ATP13A2c.1209A>T (p.Ala403=)
c.1194A>T (p.Ala398=)
n.817A>T
n.335-183A>T
c.356-5A>T (n.356-5A>T)
n.212A>T
c.335-183A>T (n.335-183A>T)
c.1206A>T (p.Ala402=)
c.1182A>T (p.Ala394=)
c.1191A>T (p.Ala397=)
c.1167A>T (p.Ala389=)
c.1179A>T (p.Ala393=)
1g.16996483T>CCA416062089ATP13A2c.1209A>G (p.Ala403=)
c.1194A>G (p.Ala398=)
n.817A>G
n.335-183A>G
c.356-5A>G (n.356-5A>G)
n.212A>G
c.335-183A>G (n.335-183A>G)
c.1206A>G (p.Ala402=)
c.1182A>G (p.Ala394=)
c.1191A>G (p.Ala397=)
c.1167A>G (p.Ala389=)
c.1179A>G (p.Ala393=)
 dbSNP
1g.16996483T>GCA416062087ATP13A2c.1209A>C (p.Ala403=)
c.1194A>C (p.Ala398=)
n.817A>C
n.335-183A>C
c.356-5A>C (n.356-5A>C)
n.212A>C
c.335-183A>C (n.335-183A>C)
c.1206A>C (p.Ala402=)
c.1182A>C (p.Ala394=)
c.1191A>C (p.Ala397=)
c.1167A>C (p.Ala389=)
c.1179A>C (p.Ala393=)
 gnomAD v4
1g.16996483T=CA1156031708ATP13A2c.1209A= (p.Ala403=)
c.1194A= (p.Ala398=)
n.817A=
n.335-183A=
c.356-5A= (n.356-5A=)
n.212A=
c.335-183A= (n.335-183A=)
c.1206A= (p.Ala402=)
c.1182A= (p.Ala394=)
c.1191A= (p.Ala397=)
c.1167A= (p.Ala389=)
c.1179A= (p.Ala393=)
1g.16996484G>ACA338254865ATP13A2c.1208C>T (p.Ala403Val)
c.1193C>T (p.Ala398Val)
n.816C>T
n.335-184C>T
c.356-6C>T (n.356-6C>T)
n.211C>T
c.335-184C>T (n.335-184C>T)
c.1205C>T (p.Ala402Val)
c.1181C>T (p.Ala394Val)
c.1190C>T (p.Ala397Val)
c.1166C>T (p.Ala389Val)
c.1178C>T (p.Ala393Val)
 dbSNP
1g.16996484G>CCA338254867ATP13A2c.1208C>G (p.Ala403Gly)
c.1193C>G (p.Ala398Gly)
n.816C>G
n.335-184C>G
c.356-6C>G (n.356-6C>G)
n.211C>G
c.335-184C>G (n.335-184C>G)
c.1205C>G (p.Ala402Gly)
c.1181C>G (p.Ala394Gly)
c.1190C>G (p.Ala397Gly)
c.1166C>G (p.Ala389Gly)
c.1178C>G (p.Ala393Gly)
1g.16996484G=CA1143922154ATP13A2c.1208C= (p.Ala403=)
c.1193C= (p.Ala398=)
n.816C=
n.335-184C=
c.356-6C= (n.356-6C=)
n.211C=
c.335-184C= (n.335-184C=)
c.1205C= (p.Ala402=)
c.1181C= (p.Ala394=)
c.1190C= (p.Ala397=)
c.1166C= (p.Ala389=)
c.1178C= (p.Ala393=)
1g.16996484G>TCA637312ATP13A2c.1208C>A (p.Ala403Glu)
c.1193C>A (p.Ala398Glu)
n.816C>A
n.335-184C>A
c.356-6C>A (n.356-6C>A)
n.211C>A
c.335-184C>A (n.335-184C>A)
c.1205C>A (p.Ala402Glu)
c.1181C>A (p.Ala394Glu)
c.1190C>A (p.Ala397Glu)
c.1166C>A (p.Ala389Glu)
c.1178C>A (p.Ala393Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996485C>ACA338254870ATP13A2c.1207G>T (p.Ala403Ser)
c.1192G>T (p.Ala398Ser)
n.815G>T
n.335-185G>T
c.356-7G>T (n.356-7G>T)
n.210G>T
c.335-185G>T (n.335-185G>T)
c.1204G>T (p.Ala402Ser)
c.1180G>T (p.Ala394Ser)
c.1189G>T (p.Ala397Ser)
c.1165G>T (p.Ala389Ser)
c.1177G>T (p.Ala393Ser)
1g.16996485C>GCA338254872ATP13A2c.1207G>C (p.Ala403Pro)
c.1192G>C (p.Ala398Pro)
n.815G>C
n.335-185G>C
c.356-7G>C (n.356-7G>C)
n.210G>C
c.335-185G>C (n.335-185G>C)
c.1204G>C (p.Ala402Pro)
c.1180G>C (p.Ala394Pro)
c.1189G>C (p.Ala397Pro)
c.1165G>C (p.Ala389Pro)
c.1177G>C (p.Ala393Pro)
1g.16996485C>TCA338254874ATP13A2c.1207G>A (p.Ala403Thr)
c.1192G>A (p.Ala398Thr)
n.815G>A
n.335-185G>A
c.356-7G>A (n.356-7G>A)
n.210G>A
c.335-185G>A (n.335-185G>A)
c.1204G>A (p.Ala402Thr)
c.1180G>A (p.Ala394Thr)
c.1189G>A (p.Ala397Thr)
c.1165G>A (p.Ala389Thr)
c.1177G>A (p.Ala393Thr)
 gnomAD v4
1g.16996486C>ACA416062107ATP13A2c.1206G>T (p.Thr402=)
c.1191G>T (p.Thr397=)
n.814G>T
n.335-186G>T
c.356-8G>T (n.356-8G>T)
n.209G>T
c.335-186G>T (n.335-186G>T)
c.1203G>T (p.Thr401=)
c.1179G>T (p.Thr393=)
c.1188G>T (p.Thr396=)
c.1164G>T (p.Thr388=)
c.1176G>T (p.Thr392=)
 COSMIC
1g.16996486C=CA1156031725ATP13A2c.1206G= (p.Thr402=)
c.1191G= (p.Thr397=)
n.814G=
n.335-186G=
c.356-8G= (n.356-8G=)
n.209G=
c.335-186G= (n.335-186G=)
c.1203G= (p.Thr401=)
c.1179G= (p.Thr393=)
c.1188G= (p.Thr396=)
c.1164G= (p.Thr388=)
c.1176G= (p.Thr392=)
1g.16996486C>GCA416062104ATP13A2c.1206G>C (p.Thr402=)
c.1191G>C (p.Thr397=)
n.814G>C
n.335-186G>C
c.356-8G>C (n.356-8G>C)
n.209G>C
c.335-186G>C (n.335-186G>C)
c.1203G>C (p.Thr401=)
c.1179G>C (p.Thr393=)
c.1188G>C (p.Thr396=)
c.1164G>C (p.Thr388=)
c.1176G>C (p.Thr392=)
1g.16996486C>TCA637313ATP13A2c.1206G>A (p.Thr402=)
c.1191G>A (p.Thr397=)
n.814G>A
n.335-186G>A
c.356-8G>A (n.356-8G>A)
n.209G>A
c.335-186G>A (n.335-186G>A)
c.1203G>A (p.Thr401=)
c.1179G>A (p.Thr393=)
c.1188G>A (p.Thr396=)
c.1164G>A (p.Thr388=)
c.1176G>A (p.Thr392=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996487delCA2574234704ATP13A2c.1205del (p.Thr402ArgfsTer7)
c.1190del (p.Thr397ArgfsTer7)
n.813del
n.335-187del
c.356-9del (n.356-9del)
n.208del
c.335-187del (n.335-187del)
c.1202del (p.Thr401ArgfsTer7)
c.1178del (p.Thr393ArgfsTer7)
c.1187del (p.Thr396ArgfsTer7)
c.1163del (p.Thr388ArgfsTer7)
c.1175del (p.Thr392ArgfsTer7)
1g.16996487G>ACA637314ATP13A2c.1205C>T (p.Thr402Met)
c.1190C>T (p.Thr397Met)
n.813C>T
n.335-187C>T
c.356-9C>T (n.356-9C>T)
n.208C>T
c.335-187C>T (n.335-187C>T)
c.1202C>T (p.Thr401Met)
c.1178C>T (p.Thr393Met)
c.1187C>T (p.Thr396Met)
c.1163C>T (p.Thr388Met)
c.1175C>T (p.Thr392Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996487G>CCA338254884ATP13A2c.1205C>G (p.Thr402Arg)
c.1190C>G (p.Thr397Arg)
n.813C>G
n.335-187C>G
c.356-9C>G (n.356-9C>G)
n.208C>G
c.335-187C>G (n.335-187C>G)
c.1202C>G (p.Thr401Arg)
c.1178C>G (p.Thr393Arg)
c.1187C>G (p.Thr396Arg)
c.1163C>G (p.Thr388Arg)
c.1175C>G (p.Thr392Arg)
1g.16996487G=CA1156031734ATP13A2c.1205C= (p.Thr402=)
c.1190C= (p.Thr397=)
n.813C=
n.335-187C=
c.356-9C= (n.356-9C=)
n.208C=
c.335-187C= (n.335-187C=)
c.1202C= (p.Thr401=)
c.1178C= (p.Thr393=)
c.1187C= (p.Thr396=)
c.1163C= (p.Thr388=)
c.1175C= (p.Thr392=)
1g.16996487G>TCA338254883ATP13A2c.1205C>A (p.Thr402Lys)
c.1190C>A (p.Thr397Lys)
n.813C>A
n.335-187C>A
c.356-9C>A (n.356-9C>A)
n.208C>A
c.335-187C>A (n.335-187C>A)
c.1202C>A (p.Thr401Lys)
c.1178C>A (p.Thr393Lys)
c.1187C>A (p.Thr396Lys)
c.1163C>A (p.Thr388Lys)
c.1175C>A (p.Thr392Lys)
1g.16996488T>ACA338254886ATP13A2c.1204A>T (p.Thr402Ser)
c.1189A>T (p.Thr397Ser)
n.812A>T
n.335-188A>T
c.356-10A>T (n.356-10A>T)
n.207A>T
c.335-188A>T (n.335-188A>T)
c.1201A>T (p.Thr401Ser)
c.1177A>T (p.Thr393Ser)
c.1186A>T (p.Thr396Ser)
c.1162A>T (p.Thr388Ser)
c.1174A>T (p.Thr392Ser)
1g.16996488T>CCA338254888ATP13A2c.1204A>G (p.Thr402Ala)
c.1189A>G (p.Thr397Ala)
n.812A>G
n.335-188A>G
c.356-10A>G (n.356-10A>G)
n.207A>G
c.335-188A>G (n.335-188A>G)
c.1201A>G (p.Thr401Ala)
c.1177A>G (p.Thr393Ala)
c.1186A>G (p.Thr396Ala)
c.1162A>G (p.Thr388Ala)
c.1174A>G (p.Thr392Ala)
1g.16996488T>GCA338254889ATP13A2c.1204A>C (p.Thr402Pro)
c.1189A>C (p.Thr397Pro)
n.812A>C
n.335-188A>C
c.356-10A>C (n.356-10A>C)
n.207A>C
c.335-188A>C (n.335-188A>C)
c.1201A>C (p.Thr401Pro)
c.1177A>C (p.Thr393Pro)
c.1186A>C (p.Thr396Pro)
c.1162A>C (p.Thr388Pro)
c.1174A>C (p.Thr392Pro)
1g.16996489G>ACA637315ATP13A2c.1203C>T (p.Cys401=)
c.1188C>T (p.Cys396=)
n.811C>T
n.335-189C>T
c.356-11C>T (n.356-11C>T)
n.206C>T
c.335-189C>T (n.335-189C>T)
c.1200C>T (p.Cys400=)
c.1176C>T (p.Cys392=)
c.1185C>T (p.Cys395=)
c.1161C>T (p.Cys387=)
c.1173C>T (p.Cys391=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996489G>CCA338254892ATP13A2c.1203C>G (p.Cys401Trp)
c.1188C>G (p.Cys396Trp)
n.811C>G
n.335-189C>G
c.356-11C>G (n.356-11C>G)
n.206C>G
c.335-189C>G (n.335-189C>G)
c.1200C>G (p.Cys400Trp)
c.1176C>G (p.Cys392Trp)
c.1185C>G (p.Cys395Trp)
c.1161C>G (p.Cys387Trp)
c.1173C>G (p.Cys391Trp)
1g.16996489G=CA1142214960ATP13A2c.1203C= (p.Cys401=)
c.1188C= (p.Cys396=)
n.811C=
n.335-189C=
c.356-11C= (n.356-11C=)
n.206C=
c.335-189C= (n.335-189C=)
c.1200C= (p.Cys400=)
c.1176C= (p.Cys392=)
c.1185C= (p.Cys395=)
c.1161C= (p.Cys387=)
c.1173C= (p.Cys391=)
1g.16996489G>TCA338254893ATP13A2c.1203C>A (p.Cys401Ter)
c.1188C>A (p.Cys396Ter)
n.811C>A
n.335-189C>A
c.356-11C>A (n.356-11C>A)
n.206C>A
c.335-189C>A (n.335-189C>A)
c.1200C>A (p.Cys400Ter)
c.1176C>A (p.Cys392Ter)
c.1185C>A (p.Cys395Ter)
c.1161C>A (p.Cys387Ter)
c.1173C>A (p.Cys391Ter)
1g.16996490C>ACA338254895ATP13A2c.1202G>T (p.Cys401Phe)
c.1187G>T (p.Cys396Phe)
n.810G>T
n.335-190G>T
c.356-12G>T (n.356-12G>T)
n.205G>T
c.335-190G>T (n.335-190G>T)
c.1199G>T (p.Cys400Phe)
c.1175G>T (p.Cys392Phe)
c.1184G>T (p.Cys395Phe)
c.1160G>T (p.Cys387Phe)
c.1172G>T (p.Cys391Phe)
1g.16996490C=CA1144175984ATP13A2c.1202G= (p.Cys401=)
c.1187G= (p.Cys396=)
n.810G=
n.335-190G=
c.356-12G= (n.356-12G=)
n.205G=
c.335-190G= (n.335-190G=)
c.1199G= (p.Cys400=)
c.1175G= (p.Cys392=)
c.1184G= (p.Cys395=)
c.1160G= (p.Cys387=)
c.1172G= (p.Cys391=)
1g.16996490C>GCA338254897ATP13A2c.1202G>C (p.Cys401Ser)
c.1187G>C (p.Cys396Ser)
n.810G>C
n.335-190G>C
c.356-12G>C (n.356-12G>C)
n.205G>C
c.335-190G>C (n.335-190G>C)
c.1199G>C (p.Cys400Ser)
c.1175G>C (p.Cys392Ser)
c.1184G>C (p.Cys395Ser)
c.1160G>C (p.Cys387Ser)
c.1172G>C (p.Cys391Ser)
1g.16996490C>TCA637316ATP13A2c.1202G>A (p.Cys401Tyr)
c.1187G>A (p.Cys396Tyr)
n.810G>A
n.335-190G>A
c.356-12G>A (n.356-12G>A)
n.205G>A
c.335-190G>A (n.335-190G>A)
c.1199G>A (p.Cys400Tyr)
c.1175G>A (p.Cys392Tyr)
c.1184G>A (p.Cys395Tyr)
c.1160G>A (p.Cys387Tyr)
c.1172G>A (p.Cys391Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996491A>CCA338254904ATP13A2c.1201T>G (p.Cys401Gly)
c.1186T>G (p.Cys396Gly)
n.809T>G
n.335-191T>G
c.356-13T>G (n.356-13T>G)
n.204T>G
c.335-191T>G (n.335-191T>G)
c.1198T>G (p.Cys400Gly)
c.1174T>G (p.Cys392Gly)
c.1183T>G (p.Cys395Gly)
c.1159T>G (p.Cys387Gly)
c.1171T>G (p.Cys391Gly)
1g.16996491A>GCA338254902ATP13A2c.1201T>C (p.Cys401Arg)
c.1186T>C (p.Cys396Arg)
n.809T>C
n.335-191T>C
c.356-13T>C (n.356-13T>C)
n.204T>C
c.335-191T>C (n.335-191T>C)
c.1198T>C (p.Cys400Arg)
c.1174T>C (p.Cys392Arg)
c.1183T>C (p.Cys395Arg)
c.1159T>C (p.Cys387Arg)
c.1171T>C (p.Cys391Arg)
1g.16996491A>TCA338254900ATP13A2c.1201T>A (p.Cys401Ser)
c.1186T>A (p.Cys396Ser)
n.809T>A
n.335-191T>A
c.356-13T>A (n.356-13T>A)
n.204T>A
c.335-191T>A (n.335-191T>A)
c.1198T>A (p.Cys400Ser)
c.1174T>A (p.Cys392Ser)
c.1183T>A (p.Cys395Ser)
c.1159T>A (p.Cys387Ser)
c.1171T>A (p.Cys391Ser)
1g.16996492G>ACA416062128ATP13A2c.1200C>T (p.Phe400=)
c.1185C>T (p.Phe395=)
n.808C>T
n.335-192C>T
c.356-14C>T (n.356-14C>T)
n.203C>T
c.335-192C>T (n.335-192C>T)
c.1197C>T (p.Phe399=)
c.1173C>T (p.Phe391=)
c.1182C>T (p.Phe394=)
c.1158C>T (p.Phe386=)
c.1170C>T (p.Phe390=)
1g.16996492G>CCA338254906ATP13A2c.1200C>G (p.Phe400Leu)
c.1185C>G (p.Phe395Leu)
n.808C>G
n.335-192C>G
c.356-14C>G (n.356-14C>G)
n.203C>G
c.335-192C>G (n.335-192C>G)
c.1197C>G (p.Phe399Leu)
c.1173C>G (p.Phe391Leu)
c.1182C>G (p.Phe394Leu)
c.1158C>G (p.Phe386Leu)
c.1170C>G (p.Phe390Leu)
1g.16996492G>TCA338254908ATP13A2c.1200C>A (p.Phe400Leu)
c.1185C>A (p.Phe395Leu)
n.808C>A
n.335-192C>A
c.356-14C>A (n.356-14C>A)
n.203C>A
c.335-192C>A (n.335-192C>A)
c.1197C>A (p.Phe399Leu)
c.1173C>A (p.Phe391Leu)
c.1182C>A (p.Phe394Leu)
c.1158C>A (p.Phe386Leu)
c.1170C>A (p.Phe390Leu)
1g.16996493A>CCA338254910ATP13A2c.1199T>G (p.Phe400Cys)
c.1184T>G (p.Phe395Cys)
n.807T>G
n.335-193T>G
c.356-15T>G (n.356-15T>G)
n.202T>G
c.335-193T>G (n.335-193T>G)
c.1196T>G (p.Phe399Cys)
c.1172T>G (p.Phe391Cys)
c.1181T>G (p.Phe394Cys)
c.1157T>G (p.Phe386Cys)
c.1169T>G (p.Phe390Cys)
1g.16996493A>GCA338254911ATP13A2c.1199T>C (p.Phe400Ser)
c.1184T>C (p.Phe395Ser)
n.807T>C
n.335-193T>C
c.356-15T>C (n.356-15T>C)
n.202T>C
c.335-193T>C (n.335-193T>C)
c.1196T>C (p.Phe399Ser)
c.1172T>C (p.Phe391Ser)
c.1181T>C (p.Phe394Ser)
c.1157T>C (p.Phe386Ser)
c.1169T>C (p.Phe390Ser)
1g.16996493A>TCA338254913ATP13A2c.1199T>A (p.Phe400Tyr)
c.1184T>A (p.Phe395Tyr)
n.807T>A
n.335-193T>A
c.356-15T>A (n.356-15T>A)
n.202T>A
c.335-193T>A (n.335-193T>A)
c.1196T>A (p.Phe399Tyr)
c.1172T>A (p.Phe391Tyr)
c.1181T>A (p.Phe394Tyr)
c.1157T>A (p.Phe386Tyr)
c.1169T>A (p.Phe390Tyr)
1g.16996494A>CCA338254915ATP13A2c.1198T>G (p.Phe400Val)
c.1183T>G (p.Phe395Val)
n.806T>G
n.335-194T>G
c.356-16T>G (n.356-16T>G)
n.201T>G
c.335-194T>G (n.335-194T>G)
c.1195T>G (p.Phe399Val)
c.1171T>G (p.Phe391Val)
c.1180T>G (p.Phe394Val)
c.1156T>G (p.Phe386Val)
c.1168T>G (p.Phe390Val)
1g.16996494A>GCA338254916ATP13A2c.1198T>C (p.Phe400Leu)
c.1183T>C (p.Phe395Leu)
n.806T>C
n.335-194T>C
c.356-16T>C (n.356-16T>C)
n.201T>C
c.335-194T>C (n.335-194T>C)
c.1195T>C (p.Phe399Leu)
c.1171T>C (p.Phe391Leu)
c.1180T>C (p.Phe394Leu)
c.1156T>C (p.Phe386Leu)
c.1168T>C (p.Phe390Leu)
1g.16996494A>TCA338254918ATP13A2c.1198T>A (p.Phe400Ile)
c.1183T>A (p.Phe395Ile)
n.806T>A
n.335-194T>A
c.356-16T>A (n.356-16T>A)
n.201T>A
c.335-194T>A (n.335-194T>A)
c.1195T>A (p.Phe399Ile)
c.1171T>A (p.Phe391Ile)
c.1180T>A (p.Phe394Ile)
c.1156T>A (p.Phe386Ile)
c.1168T>A (p.Phe390Ile)
1g.16996495C>ACA637317ATP13A2c.1197G>T (p.Gly399=)
c.1182G>T (p.Gly394=)
n.805G>T
n.335-195G>T
c.356-17G>T (n.356-17G>T)
n.200G>T
c.335-195G>T (n.335-195G>T)
c.1194G>T (p.Gly398=)
c.1170G>T (p.Gly390=)
c.1179G>T (p.Gly393=)
c.1155G>T (p.Gly385=)
c.1167G>T (p.Gly389=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996495C=CA1156031760ATP13A2c.1197G= (p.Gly399=)
c.1182G= (p.Gly394=)
n.805G=
n.335-195G=
c.356-17G= (n.356-17G=)
n.200G=
c.335-195G= (n.335-195G=)
c.1194G= (p.Gly398=)
c.1170G= (p.Gly390=)
c.1179G= (p.Gly393=)
c.1155G= (p.Gly385=)
c.1167G= (p.Gly389=)
1g.16996495C>GCA416062143ATP13A2c.1197G>C (p.Gly399=)
c.1182G>C (p.Gly394=)
n.805G>C
n.335-195G>C
c.356-17G>C (n.356-17G>C)
n.200G>C
c.335-195G>C (n.335-195G>C)
c.1194G>C (p.Gly398=)
c.1170G>C (p.Gly390=)
c.1179G>C (p.Gly393=)
c.1155G>C (p.Gly385=)
c.1167G>C (p.Gly389=)
1g.16996495C>TCA637318ATP13A2c.1197G>A (p.Gly399=)
c.1182G>A (p.Gly394=)
n.805G>A
n.335-195G>A
c.356-17G>A (n.356-17G>A)
n.200G>A
c.335-195G>A (n.335-195G>A)
c.1194G>A (p.Gly398=)
c.1170G>A (p.Gly390=)
c.1179G>A (p.Gly393=)
c.1155G>A (p.Gly385=)
c.1167G>A (p.Gly389=)
 dbSNP ExAC gnomAD v2
1g.16996496C>ACA338254923ATP13A2c.1196G>T (p.Gly399Val)
c.1181G>T (p.Gly394Val)
n.804G>T
n.335-196G>T
c.356-18G>T (n.356-18G>T)
n.199G>T
c.335-196G>T (n.335-196G>T)
c.1193G>T (p.Gly398Val)
c.1169G>T (p.Gly390Val)
c.1178G>T (p.Gly393Val)
c.1154G>T (p.Gly385Val)
c.1166G>T (p.Gly389Val)
1g.16996496C>GCA338254924ATP13A2c.1196G>C (p.Gly399Ala)
c.1181G>C (p.Gly394Ala)
n.804G>C
n.335-196G>C
c.356-18G>C (n.356-18G>C)
n.199G>C
c.335-196G>C (n.335-196G>C)
c.1193G>C (p.Gly398Ala)
c.1169G>C (p.Gly390Ala)
c.1178G>C (p.Gly393Ala)
c.1154G>C (p.Gly385Ala)
c.1166G>C (p.Gly389Ala)
1g.16996496C>TCA338254926ATP13A2c.1196G>A (p.Gly399Glu)
c.1181G>A (p.Gly394Glu)
n.804G>A
n.335-196G>A
c.356-18G>A (n.356-18G>A)
n.199G>A
c.335-196G>A (n.335-196G>A)
c.1193G>A (p.Gly398Glu)
c.1169G>A (p.Gly390Glu)
c.1178G>A (p.Gly393Glu)
c.1154G>A (p.Gly385Glu)
c.1166G>A (p.Gly389Glu)
 ClinVar dbSNP gnomAD v4
1g.16996497C>ACA338254928ATP13A2c.1196-1G>T (n.1196-1G>T)
c.1181-1G>T (n.1181-1G>T)
n.804-1G>T
n.335-197G>T
c.356-19G>T (n.356-19G>T)
n.198G>T
c.335-197G>T (n.335-197G>T)
c.1193-1G>T (n.1193-1G>T)
c.1169-1G>T (n.1169-1G>T)
c.1178-1G>T (n.1178-1G>T)
c.1154-1G>T (n.1154-1G>T)
c.1166-1G>T (n.1166-1G>T)
1g.16996497C>GCA338254932ATP13A2c.1196-1G>C (n.1196-1G>C)
c.1181-1G>C (n.1181-1G>C)
n.804-1G>C
n.335-197G>C
c.356-19G>C (n.356-19G>C)
n.198G>C
c.335-197G>C (n.335-197G>C)
c.1193-1G>C (n.1193-1G>C)
c.1169-1G>C (n.1169-1G>C)
c.1178-1G>C (n.1178-1G>C)
c.1154-1G>C (n.1154-1G>C)
c.1166-1G>C (n.1166-1G>C)
1g.16996497C>TCA338254929ATP13A2c.1196-1G>A (n.1196-1G>A)
c.1181-1G>A (n.1181-1G>A)
n.804-1G>A
n.335-197G>A
c.356-19G>A (n.356-19G>A)
n.198G>A
c.335-197G>A (n.335-197G>A)
c.1193-1G>A (n.1193-1G>A)
c.1169-1G>A (n.1169-1G>A)
c.1178-1G>A (n.1178-1G>A)
c.1154-1G>A (n.1154-1G>A)
c.1166-1G>A (n.1166-1G>A)
 gnomAD v4

Number of alleles fetched