Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.16996075C>ACA637204ATP13A2c.1443G>T (p.Thr481=)
c.1428G>T (p.Thr476=)
n.1051G>T
n.471G>T
c.120G>T (p.Thr40=)
n.531G>T
c.471G>T (p.Thr157=)
c.1440G>T (p.Thr480=)
c.1416G>T (p.Thr472=)
c.1425G>T (p.Thr475=)
c.1401G>T (p.Thr467=)
c.1413G>T (p.Thr471=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996075C=CA1141933928ATP13A2c.1443G= (p.Thr481=)
c.1428G= (p.Thr476=)
n.1051G=
n.471G=
c.120G= (p.Thr40=)
n.531G=
c.471G= (p.Thr157=)
c.1440G= (p.Thr480=)
c.1416G= (p.Thr472=)
c.1425G= (p.Thr475=)
c.1401G= (p.Thr467=)
c.1413G= (p.Thr471=)
1g.16996075C>GCA416094793ATP13A2c.1443G>C (p.Thr481=)
c.1428G>C (p.Thr476=)
n.1051G>C
n.471G>C
c.120G>C (p.Thr40=)
n.531G>C
c.471G>C (p.Thr157=)
c.1440G>C (p.Thr480=)
c.1416G>C (p.Thr472=)
c.1425G>C (p.Thr475=)
c.1401G>C (p.Thr467=)
c.1413G>C (p.Thr471=)
 gnomAD v4
1g.16996075C>TCA637205ATP13A2c.1443G>A (p.Thr481=)
c.1428G>A (p.Thr476=)
n.1051G>A
n.471G>A
c.120G>A (p.Thr40=)
n.531G>A
c.471G>A (p.Thr157=)
c.1440G>A (p.Thr480=)
c.1416G>A (p.Thr472=)
c.1425G>A (p.Thr475=)
c.1401G>A (p.Thr467=)
c.1413G>A (p.Thr471=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996076G>ACA637206ATP13A2c.1442C>T (p.Thr481Met)
c.1427C>T (p.Thr476Met)
n.1050C>T
n.470C>T
c.119C>T (p.Thr40Met)
n.530C>T
c.470C>T (p.Thr157Met)
c.1439C>T (p.Thr480Met)
c.1415C>T (p.Thr472Met)
c.1424C>T (p.Thr475Met)
c.1400C>T (p.Thr467Met)
c.1412C>T (p.Thr471Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996076G>CCA338252359ATP13A2c.1442C>G (p.Thr481Arg)
c.1427C>G (p.Thr476Arg)
n.1050C>G
n.470C>G
c.119C>G (p.Thr40Arg)
n.530C>G
c.470C>G (p.Thr157Arg)
c.1439C>G (p.Thr480Arg)
c.1415C>G (p.Thr472Arg)
c.1424C>G (p.Thr475Arg)
c.1400C>G (p.Thr467Arg)
c.1412C>G (p.Thr471Arg)
1g.16996076G=CA1156030595ATP13A2c.1442C= (p.Thr481=)
c.1427C= (p.Thr476=)
n.1050C=
n.470C=
c.119C= (p.Thr40=)
n.530C=
c.470C= (p.Thr157=)
c.1439C= (p.Thr480=)
c.1415C= (p.Thr472=)
c.1424C= (p.Thr475=)
c.1400C= (p.Thr467=)
c.1412C= (p.Thr471=)
1g.16996076G>TCA338252357ATP13A2c.1442C>A (p.Thr481Lys)
c.1427C>A (p.Thr476Lys)
n.1050C>A
n.470C>A
c.119C>A (p.Thr40Lys)
n.530C>A
c.470C>A (p.Thr157Lys)
c.1439C>A (p.Thr480Lys)
c.1415C>A (p.Thr472Lys)
c.1424C>A (p.Thr475Lys)
c.1400C>A (p.Thr467Lys)
c.1412C>A (p.Thr471Lys)
1g.16996077T>ACA338252368ATP13A2c.1441A>T (p.Thr481Ser)
c.1426A>T (p.Thr476Ser)
n.1049A>T
n.469A>T
c.118A>T (p.Thr40Ser)
n.529A>T
c.469A>T (p.Thr157Ser)
c.1438A>T (p.Thr480Ser)
c.1414A>T (p.Thr472Ser)
c.1423A>T (p.Thr475Ser)
c.1399A>T (p.Thr467Ser)
c.1411A>T (p.Thr471Ser)
1g.16996077T>CCA338252370ATP13A2c.1441A>G (p.Thr481Ala)
c.1426A>G (p.Thr476Ala)
n.1049A>G
n.469A>G
c.118A>G (p.Thr40Ala)
n.529A>G
c.469A>G (p.Thr157Ala)
c.1438A>G (p.Thr480Ala)
c.1414A>G (p.Thr472Ala)
c.1423A>G (p.Thr475Ala)
c.1399A>G (p.Thr467Ala)
c.1411A>G (p.Thr471Ala)
1g.16996077T>GCA338252371ATP13A2c.1441A>C (p.Thr481Pro)
c.1426A>C (p.Thr476Pro)
n.1049A>C
n.469A>C
c.118A>C (p.Thr40Pro)
n.529A>C
c.469A>C (p.Thr157Pro)
c.1438A>C (p.Thr480Pro)
c.1414A>C (p.Thr472Pro)
c.1423A>C (p.Thr475Pro)
c.1399A>C (p.Thr467Pro)
c.1411A>C (p.Thr471Pro)
1g.16996078G>ACA416094796ATP13A2c.1440C>T (p.Cys480=)
c.1425C>T (p.Cys475=)
n.1048C>T
n.468C>T
c.117C>T (p.Cys39=)
n.528C>T
c.468C>T (p.Cys156=)
c.1437C>T (p.Cys479=)
c.1413C>T (p.Cys471=)
c.1422C>T (p.Cys474=)
c.1398C>T (p.Cys466=)
c.1410C>T (p.Cys470=)
1g.16996078G>CCA338252372ATP13A2c.1440C>G (p.Cys480Trp)
c.1425C>G (p.Cys475Trp)
n.1048C>G
n.468C>G
c.117C>G (p.Cys39Trp)
n.528C>G
c.468C>G (p.Cys156Trp)
c.1437C>G (p.Cys479Trp)
c.1413C>G (p.Cys471Trp)
c.1422C>G (p.Cys474Trp)
c.1398C>G (p.Cys466Trp)
c.1410C>G (p.Cys470Trp)
1g.16996078G>TCA338252374ATP13A2c.1440C>A (p.Cys480Ter)
c.1425C>A (p.Cys475Ter)
n.1048C>A
n.468C>A
c.117C>A (p.Cys39Ter)
n.528C>A
c.468C>A (p.Cys156Ter)
c.1437C>A (p.Cys479Ter)
c.1413C>A (p.Cys471Ter)
c.1422C>A (p.Cys474Ter)
c.1398C>A (p.Cys466Ter)
c.1410C>A (p.Cys470Ter)
1g.16996078_16996080delinsGCACA1156030599ATP13A2c.1438_1440delinsTGC (p.Cys480=)
c.1423_1425delinsTGC (p.Cys475=)
n.1046_1048delinsTGC
n.466_468delinsTGC
c.115_117delinsTGC (p.Cys39=)
n.526_528delinsTGC
c.466_468delinsTGC (p.Cys156=)
c.1435_1437delinsTGC (p.Cys479=)
c.1411_1413delinsTGC (p.Cys471=)
c.1420_1422delinsTGC (p.Cys474=)
c.1396_1398delinsTGC (p.Cys466=)
c.1408_1410delinsTGC (p.Cys470=)
1g.16996079C>ACA338252376ATP13A2c.1439G>T (p.Cys480Phe)
c.1424G>T (p.Cys475Phe)
n.1047G>T
n.467G>T
c.116G>T (p.Cys39Phe)
n.527G>T
c.467G>T (p.Cys156Phe)
c.1436G>T (p.Cys479Phe)
c.1412G>T (p.Cys471Phe)
c.1421G>T (p.Cys474Phe)
c.1397G>T (p.Cys466Phe)
c.1409G>T (p.Cys470Phe)
1g.16996079C=CA1145393409ATP13A2c.1439G= (p.Cys480=)
c.1424G= (p.Cys475=)
n.1047G=
n.467G=
c.116G= (p.Cys39=)
n.527G=
c.467G= (p.Cys156=)
c.1436G= (p.Cys479=)
c.1412G= (p.Cys471=)
c.1421G= (p.Cys474=)
c.1397G= (p.Cys466=)
c.1409G= (p.Cys470=)
1g.16996079C>GCA338252379ATP13A2c.1439G>C (p.Cys480Ser)
c.1424G>C (p.Cys475Ser)
n.1047G>C
n.467G>C
c.116G>C (p.Cys39Ser)
n.527G>C
c.467G>C (p.Cys156Ser)
c.1436G>C (p.Cys479Ser)
c.1412G>C (p.Cys471Ser)
c.1421G>C (p.Cys474Ser)
c.1397G>C (p.Cys466Ser)
c.1409G>C (p.Cys470Ser)
1g.16996079C>TCA637207ATP13A2c.1439G>A (p.Cys480Tyr)
c.1424G>A (p.Cys475Tyr)
n.1047G>A
n.467G>A
c.116G>A (p.Cys39Tyr)
n.527G>A
c.467G>A (p.Cys156Tyr)
c.1436G>A (p.Cys479Tyr)
c.1412G>A (p.Cys471Tyr)
c.1421G>A (p.Cys474Tyr)
c.1397G>A (p.Cys466Tyr)
c.1409G>A (p.Cys470Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996083_16996084delCA1156030601ATP13A2c.1438_1439del (p.Cys480HisfsTer?)
c.1423_1424del (p.Cys475HisfsTer?)
n.1046_1047del
n.466_467del
c.115_116del (p.Cys39HisfsTer?)
n.526_527del
c.466_467del (p.Cys156HisfsTer?)
c.1435_1436del (p.Cys479HisfsTer?)
c.1411_1412del (p.Cys471HisfsTer?)
c.1420_1421del (p.Cys474HisfsTer?)
c.1396_1397del (p.Cys466HisfsTer?)
c.1408_1409del (p.Cys470HisfsTer?)
 dbSNP gnomAD v4
1g.16996081_16996084delCA2580611135ATP13A2c.1436_1439del (p.Val479AlafsTer?)
c.1421_1424del (p.Val474AlafsTer?)
n.1044_1047del
n.464_467del
c.113_116del (p.Val38AlafsTer?)
n.524_527del
c.464_467del (p.Val155AlafsTer?)
c.1433_1436del (p.Val478AlafsTer?)
c.1409_1412del (p.Val470AlafsTer?)
c.1418_1421del (p.Val473AlafsTer?)
c.1394_1397del (p.Val465AlafsTer?)
c.1436_1439del (p.Val479AlafsTer30)
c.1406_1409del (p.Val469AlafsTer30)
 ClinVar dbSNP
1g.16996080A>CCA338252385ATP13A2c.1438T>G (p.Cys480Gly)
c.1423T>G (p.Cys475Gly)
n.1046T>G
n.466T>G
c.115T>G (p.Cys39Gly)
n.526T>G
c.466T>G (p.Cys156Gly)
c.1435T>G (p.Cys479Gly)
c.1411T>G (p.Cys471Gly)
c.1420T>G (p.Cys474Gly)
c.1396T>G (p.Cys466Gly)
c.1408T>G (p.Cys470Gly)
1g.16996080A>GCA338252388ATP13A2c.1438T>C (p.Cys480Arg)
c.1423T>C (p.Cys475Arg)
n.1046T>C
n.466T>C
c.115T>C (p.Cys39Arg)
n.526T>C
c.466T>C (p.Cys156Arg)
c.1435T>C (p.Cys479Arg)
c.1411T>C (p.Cys471Arg)
c.1420T>C (p.Cys474Arg)
c.1396T>C (p.Cys466Arg)
c.1408T>C (p.Cys470Arg)
1g.16996080A>TCA338252394ATP13A2c.1438T>A (p.Cys480Ser)
c.1423T>A (p.Cys475Ser)
n.1046T>A
n.466T>A
c.115T>A (p.Cys39Ser)
n.526T>A
c.466T>A (p.Cys156Ser)
c.1435T>A (p.Cys479Ser)
c.1411T>A (p.Cys471Ser)
c.1420T>A (p.Cys474Ser)
c.1396T>A (p.Cys466Ser)
c.1408T>A (p.Cys470Ser)
1g.16996081C>ACA416094797ATP13A2c.1437G>T (p.Val479=)
c.1422G>T (p.Val474=)
n.1045G>T
n.465G>T
c.114G>T (p.Val38=)
n.525G>T
c.465G>T (p.Val155=)
c.1434G>T (p.Val478=)
c.1410G>T (p.Val470=)
c.1419G>T (p.Val473=)
c.1395G>T (p.Val465=)
c.1407G>T (p.Val469=)
1g.16996081C=CA1143547633ATP13A2c.1437G= (p.Val479=)
c.1422G= (p.Val474=)
n.1045G=
n.465G=
c.114G= (p.Val38=)
n.525G=
c.465G= (p.Val155=)
c.1434G= (p.Val478=)
c.1410G= (p.Val470=)
c.1419G= (p.Val473=)
c.1395G= (p.Val465=)
c.1407G= (p.Val469=)
1g.16996081C>GCA416094798ATP13A2c.1437G>C (p.Val479=)
c.1422G>C (p.Val474=)
n.1045G>C
n.465G>C
c.114G>C (p.Val38=)
n.525G>C
c.465G>C (p.Val155=)
c.1434G>C (p.Val478=)
c.1410G>C (p.Val470=)
c.1419G>C (p.Val473=)
c.1395G>C (p.Val465=)
c.1407G>C (p.Val469=)
1g.16996081C>TCA637208ATP13A2c.1437G>A (p.Val479=)
c.1422G>A (p.Val474=)
n.1045G>A
n.465G>A
c.114G>A (p.Val38=)
n.525G>A
c.465G>A (p.Val155=)
c.1434G>A (p.Val478=)
c.1410G>A (p.Val470=)
c.1419G>A (p.Val473=)
c.1395G>A (p.Val465=)
c.1407G>A (p.Val469=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996082A=CA1143497917ATP13A2c.1436T= (p.Val479=)
c.1421T= (p.Val474=)
n.1044T=
n.464T=
c.113T= (p.Val38=)
n.524T=
c.464T= (p.Val155=)
c.1433T= (p.Val478=)
c.1409T= (p.Val470=)
c.1418T= (p.Val473=)
c.1394T= (p.Val465=)
c.1406T= (p.Val469=)
1g.16996082A>CCA338252415ATP13A2c.1436T>G (p.Val479Gly)
c.1421T>G (p.Val474Gly)
n.1044T>G
n.464T>G
c.113T>G (p.Val38Gly)
n.524T>G
c.464T>G (p.Val155Gly)
c.1433T>G (p.Val478Gly)
c.1409T>G (p.Val470Gly)
c.1418T>G (p.Val473Gly)
c.1394T>G (p.Val465Gly)
c.1406T>G (p.Val469Gly)
1g.16996082A>GCA637209ATP13A2c.1436T>C (p.Val479Ala)
c.1421T>C (p.Val474Ala)
n.1044T>C
n.464T>C
c.113T>C (p.Val38Ala)
n.524T>C
c.464T>C (p.Val155Ala)
c.1433T>C (p.Val478Ala)
c.1409T>C (p.Val470Ala)
c.1418T>C (p.Val473Ala)
c.1394T>C (p.Val465Ala)
c.1406T>C (p.Val469Ala)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.16996082A>TCA338252410ATP13A2c.1436T>A (p.Val479Glu)
c.1421T>A (p.Val474Glu)
n.1044T>A
n.464T>A
c.113T>A (p.Val38Glu)
n.524T>A
c.464T>A (p.Val155Glu)
c.1433T>A (p.Val478Glu)
c.1409T>A (p.Val470Glu)
c.1418T>A (p.Val473Glu)
c.1394T>A (p.Val465Glu)
c.1406T>A (p.Val469Glu)
1g.16996083C>ACA338252418ATP13A2c.1435G>T (p.Val479Leu)
c.1420G>T (p.Val474Leu)
n.1043G>T
n.463G>T
c.112G>T (p.Val38Leu)
n.523G>T
c.463G>T (p.Val155Leu)
c.1432G>T (p.Val478Leu)
c.1408G>T (p.Val470Leu)
c.1417G>T (p.Val473Leu)
c.1393G>T (p.Val465Leu)
c.1405G>T (p.Val469Leu)
1g.16996083C=CA1156030608ATP13A2c.1435G= (p.Val479=)
c.1420G= (p.Val474=)
n.1043G=
n.463G=
c.112G= (p.Val38=)
n.523G=
c.463G= (p.Val155=)
c.1432G= (p.Val478=)
c.1408G= (p.Val470=)
c.1417G= (p.Val473=)
c.1393G= (p.Val465=)
c.1405G= (p.Val469=)
1g.16996083C>GCA338252421ATP13A2c.1435G>C (p.Val479Leu)
c.1420G>C (p.Val474Leu)
n.1043G>C
n.463G>C
c.112G>C (p.Val38Leu)
n.523G>C
c.463G>C (p.Val155Leu)
c.1432G>C (p.Val478Leu)
c.1408G>C (p.Val470Leu)
c.1417G>C (p.Val473Leu)
c.1393G>C (p.Val465Leu)
c.1405G>C (p.Val469Leu)
1g.16996083C>TCA338252426ATP13A2c.1435G>A (p.Val479Met)
c.1420G>A (p.Val474Met)
n.1043G>A
n.463G>A
c.112G>A (p.Val38Met)
n.523G>A
c.463G>A (p.Val155Met)
c.1432G>A (p.Val478Met)
c.1408G>A (p.Val470Met)
c.1417G>A (p.Val473Met)
c.1393G>A (p.Val465Met)
c.1405G>A (p.Val469Met)
 dbSNP gnomAD v4
1g.16996084A=CA1156030612ATP13A2c.1434T= (p.Thr478=)
c.1419T= (p.Thr473=)
n.1042T=
n.462T=
c.111T= (p.Thr37=)
n.522T=
c.462T= (p.Thr154=)
c.1431T= (p.Thr477=)
c.1407T= (p.Thr469=)
c.1416T= (p.Thr472=)
c.1392T= (p.Thr464=)
c.1404T= (p.Thr468=)
1g.16996084A>CCA416094800ATP13A2c.1434T>G (p.Thr478=)
c.1419T>G (p.Thr473=)
n.1042T>G
n.462T>G
c.111T>G (p.Thr37=)
n.522T>G
c.462T>G (p.Thr154=)
c.1431T>G (p.Thr477=)
c.1407T>G (p.Thr469=)
c.1416T>G (p.Thr472=)
c.1392T>G (p.Thr464=)
c.1404T>G (p.Thr468=)
 dbSNP gnomAD v2 gnomAD v4
1g.16996084A>GCA416094801ATP13A2c.1434T>C (p.Thr478=)
c.1419T>C (p.Thr473=)
n.1042T>C
n.462T>C
c.111T>C (p.Thr37=)
n.522T>C
c.462T>C (p.Thr154=)
c.1431T>C (p.Thr477=)
c.1407T>C (p.Thr469=)
c.1416T>C (p.Thr472=)
c.1392T>C (p.Thr464=)
c.1404T>C (p.Thr468=)
 dbSNP gnomAD v4
1g.16996084A>TCA416094802ATP13A2c.1434T>A (p.Thr478=)
c.1419T>A (p.Thr473=)
n.1042T>A
n.462T>A
c.111T>A (p.Thr37=)
n.522T>A
c.462T>A (p.Thr154=)
c.1431T>A (p.Thr477=)
c.1407T>A (p.Thr469=)
c.1416T>A (p.Thr472=)
c.1392T>A (p.Thr464=)
c.1404T>A (p.Thr468=)
1g.16996085G>ACA338252432ATP13A2c.1433C>T (p.Thr478Ile)
c.1418C>T (p.Thr473Ile)
n.1041C>T
n.461C>T
c.110C>T (p.Thr37Ile)
n.521C>T
c.461C>T (p.Thr154Ile)
c.1430C>T (p.Thr477Ile)
c.1406C>T (p.Thr469Ile)
c.1415C>T (p.Thr472Ile)
c.1391C>T (p.Thr464Ile)
c.1403C>T (p.Thr468Ile)
1g.16996085G>CCA338252435ATP13A2c.1433C>G (p.Thr478Ser)
c.1418C>G (p.Thr473Ser)
n.1041C>G
n.461C>G
c.110C>G (p.Thr37Ser)
n.521C>G
c.461C>G (p.Thr154Ser)
c.1430C>G (p.Thr477Ser)
c.1406C>G (p.Thr469Ser)
c.1415C>G (p.Thr472Ser)
c.1391C>G (p.Thr464Ser)
c.1403C>G (p.Thr468Ser)
1g.16996085G>TCA338252452ATP13A2c.1433C>A (p.Thr478Asn)
c.1418C>A (p.Thr473Asn)
n.1041C>A
n.461C>A
c.110C>A (p.Thr37Asn)
n.521C>A
c.461C>A (p.Thr154Asn)
c.1430C>A (p.Thr477Asn)
c.1406C>A (p.Thr469Asn)
c.1415C>A (p.Thr472Asn)
c.1391C>A (p.Thr464Asn)
c.1403C>A (p.Thr468Asn)
1g.16996086T>ACA338252458ATP13A2c.1432A>T (p.Thr478Ser)
c.1417A>T (p.Thr473Ser)
n.1040A>T
n.460A>T
c.109A>T (p.Thr37Ser)
n.520A>T
c.460A>T (p.Thr154Ser)
c.1429A>T (p.Thr477Ser)
c.1405A>T (p.Thr469Ser)
c.1414A>T (p.Thr472Ser)
c.1390A>T (p.Thr464Ser)
c.1402A>T (p.Thr468Ser)
1g.16996086T>CCA338252459ATP13A2c.1432A>G (p.Thr478Ala)
c.1417A>G (p.Thr473Ala)
n.1040A>G
n.460A>G
c.109A>G (p.Thr37Ala)
n.520A>G
c.460A>G (p.Thr154Ala)
c.1429A>G (p.Thr477Ala)
c.1405A>G (p.Thr469Ala)
c.1414A>G (p.Thr472Ala)
c.1390A>G (p.Thr464Ala)
c.1402A>G (p.Thr468Ala)
1g.16996086T>GCA338252460ATP13A2c.1432A>C (p.Thr478Pro)
c.1417A>C (p.Thr473Pro)
n.1040A>C
n.460A>C
c.109A>C (p.Thr37Pro)
n.520A>C
c.460A>C (p.Thr154Pro)
c.1429A>C (p.Thr477Pro)
c.1405A>C (p.Thr469Pro)
c.1414A>C (p.Thr472Pro)
c.1390A>C (p.Thr464Pro)
c.1402A>C (p.Thr468Pro)
1g.16996087C>ACA338252461ATP13A2c.1431G>T (p.Met477Ile)
c.1416G>T (p.Met472Ile)
n.1039G>T
n.459G>T
c.108G>T (p.Met36Ile)
c.573G>T (p.Met191Ile)
n.519G>T
c.459G>T (p.Met153Ile)
c.1428G>T (p.Met476Ile)
c.1404G>T (p.Met468Ile)
c.1413G>T (p.Met471Ile)
c.1389G>T (p.Met463Ile)
c.1401G>T (p.Met467Ile)
1g.16996087C>GCA338252462ATP13A2c.1431G>C (p.Met477Ile)
c.1416G>C (p.Met472Ile)
n.1039G>C
n.459G>C
c.108G>C (p.Met36Ile)
c.573G>C (p.Met191Ile)
n.519G>C
c.459G>C (p.Met153Ile)
c.1428G>C (p.Met476Ile)
c.1404G>C (p.Met468Ile)
c.1413G>C (p.Met471Ile)
c.1389G>C (p.Met463Ile)
c.1401G>C (p.Met467Ile)
1g.16996087C>TCA338252463ATP13A2c.1431G>A (p.Met477Ile)
c.1416G>A (p.Met472Ile)
n.1039G>A
n.459G>A
c.108G>A (p.Met36Ile)
c.573G>A (p.Met191Ile)
n.519G>A
c.459G>A (p.Met153Ile)
c.1428G>A (p.Met476Ile)
c.1404G>A (p.Met468Ile)
c.1413G>A (p.Met471Ile)
c.1389G>A (p.Met463Ile)
c.1401G>A (p.Met467Ile)
 gnomAD v4
1g.16996088A>CCA338252466ATP13A2c.1430T>G (p.Met477Arg)
c.1415T>G (p.Met472Arg)
n.1038T>G
n.458T>G
c.107T>G (p.Met36Arg)
c.572T>G (p.Met191Arg)
n.518T>G
c.458T>G (p.Met153Arg)
c.1427T>G (p.Met476Arg)
c.1403T>G (p.Met468Arg)
c.1412T>G (p.Met471Arg)
c.1388T>G (p.Met463Arg)
c.1400T>G (p.Met467Arg)
1g.16996088A>GCA338252465ATP13A2c.1430T>C (p.Met477Thr)
c.1415T>C (p.Met472Thr)
n.1038T>C
n.458T>C
c.107T>C (p.Met36Thr)
c.572T>C (p.Met191Thr)
n.518T>C
c.458T>C (p.Met153Thr)
c.1427T>C (p.Met476Thr)
c.1403T>C (p.Met468Thr)
c.1412T>C (p.Met471Thr)
c.1388T>C (p.Met463Thr)
c.1400T>C (p.Met467Thr)
 gnomAD v4
1g.16996088A>TCA338252464ATP13A2c.1430T>A (p.Met477Lys)
c.1415T>A (p.Met472Lys)
n.1038T>A
n.458T>A
c.107T>A (p.Met36Lys)
c.572T>A (p.Met191Lys)
n.518T>A
c.458T>A (p.Met153Lys)
c.1427T>A (p.Met476Lys)
c.1403T>A (p.Met468Lys)
c.1412T>A (p.Met471Lys)
c.1388T>A (p.Met463Lys)
c.1400T>A (p.Met467Lys)
1g.16996089T>ACA338252467ATP13A2c.1429A>T (p.Met477Leu)
c.1414A>T (p.Met472Leu)
n.1037A>T
n.457A>T
c.106A>T (p.Met36Leu)
c.571A>T (p.Met191Leu)
n.517A>T
c.457A>T (p.Met153Leu)
c.1426A>T (p.Met476Leu)
c.1402A>T (p.Met468Leu)
c.1411A>T (p.Met471Leu)
c.1387A>T (p.Met463Leu)
c.1399A>T (p.Met467Leu)
1g.16996089T>CCA637210ATP13A2c.1429A>G (p.Met477Val)
c.1414A>G (p.Met472Val)
n.1037A>G
n.457A>G
c.106A>G (p.Met36Val)
c.571A>G (p.Met191Val)
n.517A>G
c.457A>G (p.Met153Val)
c.1426A>G (p.Met476Val)
c.1402A>G (p.Met468Val)
c.1411A>G (p.Met471Val)
c.1387A>G (p.Met463Val)
c.1399A>G (p.Met467Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996089T>GCA338252468ATP13A2c.1429A>C (p.Met477Leu)
c.1414A>C (p.Met472Leu)
n.1037A>C
n.457A>C
c.106A>C (p.Met36Leu)
c.571A>C (p.Met191Leu)
n.517A>C
c.457A>C (p.Met153Leu)
c.1426A>C (p.Met476Leu)
c.1402A>C (p.Met468Leu)
c.1411A>C (p.Met471Leu)
c.1387A>C (p.Met463Leu)
c.1399A>C (p.Met467Leu)
1g.16996089T=CA1156030614ATP13A2c.1429A= (p.Met477=)
c.1414A= (p.Met472=)
n.1037A=
n.457A=
c.106A= (p.Met36=)
c.571A= (p.Met191=)
n.517A=
c.457A= (p.Met153=)
c.1426A= (p.Met476=)
c.1402A= (p.Met468=)
c.1411A= (p.Met471=)
c.1387A= (p.Met463=)
c.1399A= (p.Met467=)
1g.16996089_16996090insTTTCA2742637225ATP13A2c.1429_1430insAAA (p.Ala476_Met477insLys)
c.1414_1415insAAA (p.Ala471_Met472insLys)
n.1037_1038insAAA
n.457_458insAAA
c.106_107insAAA (p.Ala35_Met36insLys)
c.571_572insAAA (p.Ala190_Met191insLys)
n.517_518insAAA
c.457_458insAAA (p.Ala152_Met153insLys)
c.1426_1427insAAA (p.Ala475_Met476insLys)
c.1402_1403insAAA (p.Ala467_Met468insLys)
c.1411_1412insAAA (p.Ala470_Met471insLys)
c.1387_1388insAAA (p.Ala462_Met463insLys)
c.1399_1400insAAA (p.Ala466_Met467insLys)
1g.16996090G>ACA416094805ATP13A2c.1428C>T (p.Ala476=)
c.1413C>T (p.Ala471=)
n.1036C>T
n.456C>T
c.105C>T (p.Ala35=)
c.570C>T (p.Ala190=)
n.516C>T
c.456C>T (p.Ala152=)
c.1425C>T (p.Ala475=)
c.1401C>T (p.Ala467=)
c.1410C>T (p.Ala470=)
c.1386C>T (p.Ala462=)
c.1398C>T (p.Ala466=)
 dbSNP gnomAD v2 gnomAD v4
1g.16996090G>CCA416094806ATP13A2c.1428C>G (p.Ala476=)
c.1413C>G (p.Ala471=)
n.1036C>G
n.456C>G
c.105C>G (p.Ala35=)
c.570C>G (p.Ala190=)
n.516C>G
c.456C>G (p.Ala152=)
c.1425C>G (p.Ala475=)
c.1401C>G (p.Ala467=)
c.1410C>G (p.Ala470=)
c.1386C>G (p.Ala462=)
c.1398C>G (p.Ala466=)
1g.16996090G=CA1156030618ATP13A2c.1428C= (p.Ala476=)
c.1413C= (p.Ala471=)
n.1036C=
n.456C=
c.105C= (p.Ala35=)
c.570C= (p.Ala190=)
n.516C=
c.456C= (p.Ala152=)
c.1425C= (p.Ala475=)
c.1401C= (p.Ala467=)
c.1410C= (p.Ala470=)
c.1386C= (p.Ala462=)
c.1398C= (p.Ala466=)
1g.16996090G>TCA416094807ATP13A2c.1428C>A (p.Ala476=)
c.1413C>A (p.Ala471=)
n.1036C>A
n.456C>A
c.105C>A (p.Ala35=)
c.570C>A (p.Ala190=)
n.516C>A
c.456C>A (p.Ala152=)
c.1425C>A (p.Ala475=)
c.1401C>A (p.Ala467=)
c.1410C>A (p.Ala470=)
c.1386C>A (p.Ala462=)
c.1398C>A (p.Ala466=)
1g.16996090_16996096delinsTTTGGAAGCA2586964005ATP13A2c.1422_1428delinsCTTCCAAA (p.Ala475PhefsTer?)
c.1407_1413delinsCTTCCAAA (p.Ala470PhefsTer?)
n.1030_1036delinsCTTCCAAA
n.450_456delinsCTTCCAAA
c.99_105delinsCTTCCAAA (p.Ala34PhefsTer?)
c.564_570delinsCTTCCAAA (p.Ala189PhefsTer?)
n.510_516delinsCTTCCAAA
c.450_456delinsCTTCCAAA (p.Ala151PhefsTer?)
c.1419_1425delinsCTTCCAAA (p.Ala474PhefsTer?)
c.1395_1401delinsCTTCCAAA (p.Ala466PhefsTer?)
c.1404_1410delinsCTTCCAAA (p.Ala469PhefsTer?)
c.1380_1386delinsCTTCCAAA (p.Ala461PhefsTer?)
c.1392_1398delinsCTTCCAAA (p.Ala465PhefsTer?)
1g.16996090_16996111dupCA2580611136ATP13A2c.1407_1428dup (p.Met477AlafsTer?)
c.1392_1413dup (p.Met472AlafsTer?)
n.1015_1036dup
n.435_456dup
c.84_105dup (p.Met36AlafsTer?)
c.549_570dup (p.Met191AlafsTer?)
n.495_516dup
c.435_456dup (p.Met153AlafsTer?)
c.1404_1425dup (p.Met476AlafsTer?)
c.1380_1401dup (p.Met468AlafsTer?)
c.1389_1410dup (p.Met471AlafsTer?)
c.1365_1386dup (p.Met463AlafsTer?)
c.1377_1398dup (p.Met467AlafsTer?)
 ClinVar
1g.16996091G>ACA338252469ATP13A2c.1427C>T (p.Ala476Val)
c.1412C>T (p.Ala471Val)
n.1035C>T
n.455C>T
c.104C>T (p.Ala35Val)
c.569C>T (p.Ala190Val)
n.515C>T
c.455C>T (p.Ala152Val)
c.1424C>T (p.Ala475Val)
c.1400C>T (p.Ala467Val)
c.1409C>T (p.Ala470Val)
c.1385C>T (p.Ala462Val)
c.1397C>T (p.Ala466Val)
1g.16996091G>CCA338252471ATP13A2c.1427C>G (p.Ala476Gly)
c.1412C>G (p.Ala471Gly)
n.1035C>G
n.455C>G
c.104C>G (p.Ala35Gly)
c.569C>G (p.Ala190Gly)
n.515C>G
c.455C>G (p.Ala152Gly)
c.1424C>G (p.Ala475Gly)
c.1400C>G (p.Ala467Gly)
c.1409C>G (p.Ala470Gly)
c.1385C>G (p.Ala462Gly)
c.1397C>G (p.Ala466Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.16996091G=CA1156030623ATP13A2c.1427C= (p.Ala476=)
c.1412C= (p.Ala471=)
n.1035C=
n.455C=
c.104C= (p.Ala35=)
c.569C= (p.Ala190=)
n.515C=
c.455C= (p.Ala152=)
c.1424C= (p.Ala475=)
c.1400C= (p.Ala467=)
c.1409C= (p.Ala470=)
c.1385C= (p.Ala462=)
c.1397C= (p.Ala466=)
1g.16996091G>TCA338252475ATP13A2c.1427C>A (p.Ala476Asp)
c.1412C>A (p.Ala471Asp)
n.1035C>A
n.455C>A
c.104C>A (p.Ala35Asp)
c.569C>A (p.Ala190Asp)
n.515C>A
c.455C>A (p.Ala152Asp)
c.1424C>A (p.Ala475Asp)
c.1400C>A (p.Ala467Asp)
c.1409C>A (p.Ala470Asp)
c.1385C>A (p.Ala462Asp)
c.1397C>A (p.Ala466Asp)
1g.16996095_16996097dupCA2580611137ATP13A2c.1425_1427dup (p.Ala476_Met477insAla)
c.1410_1412dup (p.Ala471_Met472insAla)
n.1033_1035dup
n.453_455dup
c.102_104dup (p.Ala35_Met36insAla)
c.567_569dup (p.Ala190_Met191insAla)
n.513_515dup
c.453_455dup (p.Ala152_Met153insAla)
c.1422_1424dup (p.Ala475_Met476insAla)
c.1398_1400dup (p.Ala467_Met468insAla)
c.1407_1409dup (p.Ala470_Met471insAla)
c.1383_1385dup (p.Ala462_Met463insAla)
c.1395_1397dup (p.Ala466_Met467insAla)
 ClinVar
1g.16996092C>ACA338252488ATP13A2c.1426G>T (p.Ala476Ser)
c.1411G>T (p.Ala471Ser)
n.1034G>T
n.454G>T
c.103G>T (p.Ala35Ser)
c.568G>T (p.Ala190Ser)
n.514G>T
c.454G>T (p.Ala152Ser)
c.1423G>T (p.Ala475Ser)
c.1399G>T (p.Ala467Ser)
c.1408G>T (p.Ala470Ser)
c.1384G>T (p.Ala462Ser)
c.1396G>T (p.Ala466Ser)
1g.16996092C>GCA338252487ATP13A2c.1426G>C (p.Ala476Pro)
c.1411G>C (p.Ala471Pro)
n.1034G>C
n.454G>C
c.103G>C (p.Ala35Pro)
c.568G>C (p.Ala190Pro)
n.514G>C
c.454G>C (p.Ala152Pro)
c.1423G>C (p.Ala475Pro)
c.1399G>C (p.Ala467Pro)
c.1408G>C (p.Ala470Pro)
c.1384G>C (p.Ala462Pro)
c.1396G>C (p.Ala466Pro)
1g.16996092C>TCA338252483ATP13A2c.1426G>A (p.Ala476Thr)
c.1411G>A (p.Ala471Thr)
n.1034G>A
n.454G>A
c.103G>A (p.Ala35Thr)
c.568G>A (p.Ala190Thr)
n.514G>A
c.454G>A (p.Ala152Thr)
c.1423G>A (p.Ala475Thr)
c.1399G>A (p.Ala467Thr)
c.1408G>A (p.Ala470Thr)
c.1384G>A (p.Ala462Thr)
c.1396G>A (p.Ala466Thr)
 gnomAD v4
1g.16996093A>CCA416094808ATP13A2c.1425T>G (p.Ala475=)
c.1410T>G (p.Ala470=)
n.1033T>G
n.453T>G
c.102T>G (p.Ala34=)
c.567T>G (p.Ala189=)
n.513T>G
c.453T>G (p.Ala151=)
c.1422T>G (p.Ala474=)
c.1398T>G (p.Ala466=)
c.1407T>G (p.Ala469=)
c.1383T>G (p.Ala461=)
c.1395T>G (p.Ala465=)
1g.16996093A>GCA416094810ATP13A2c.1425T>C (p.Ala475=)
c.1410T>C (p.Ala470=)
n.1033T>C
n.453T>C
c.102T>C (p.Ala34=)
c.567T>C (p.Ala189=)
n.513T>C
c.453T>C (p.Ala151=)
c.1422T>C (p.Ala474=)
c.1398T>C (p.Ala466=)
c.1407T>C (p.Ala469=)
c.1383T>C (p.Ala461=)
c.1395T>C (p.Ala465=)
 gnomAD v4
1g.16996093A>TCA416094809ATP13A2c.1425T>A (p.Ala475=)
c.1410T>A (p.Ala470=)
n.1033T>A
n.453T>A
c.102T>A (p.Ala34=)
c.567T>A (p.Ala189=)
n.513T>A
c.453T>A (p.Ala151=)
c.1422T>A (p.Ala474=)
c.1398T>A (p.Ala466=)
c.1407T>A (p.Ala469=)
c.1383T>A (p.Ala461=)
c.1395T>A (p.Ala465=)
1g.16996094G>ACA338252489ATP13A2c.1424C>T (p.Ala475Val)
c.1409C>T (p.Ala470Val)
n.1032C>T
n.452C>T
c.101C>T (p.Ala34Val)
c.566C>T (p.Ala189Val)
n.512C>T
c.452C>T (p.Ala151Val)
c.1421C>T (p.Ala474Val)
c.1397C>T (p.Ala466Val)
c.1406C>T (p.Ala469Val)
c.1382C>T (p.Ala461Val)
c.1394C>T (p.Ala465Val)
 gnomAD v4
1g.16996094G>CCA338252490ATP13A2c.1424C>G (p.Ala475Gly)
c.1409C>G (p.Ala470Gly)
n.1032C>G
n.452C>G
c.101C>G (p.Ala34Gly)
c.566C>G (p.Ala189Gly)
n.512C>G
c.452C>G (p.Ala151Gly)
c.1421C>G (p.Ala474Gly)
c.1397C>G (p.Ala466Gly)
c.1406C>G (p.Ala469Gly)
c.1382C>G (p.Ala461Gly)
c.1394C>G (p.Ala465Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.16996094G=CA1156030643ATP13A2c.1424C= (p.Ala475=)
c.1409C= (p.Ala470=)
n.1032C=
n.452C=
c.101C= (p.Ala34=)
c.566C= (p.Ala189=)
n.512C=
c.452C= (p.Ala151=)
c.1421C= (p.Ala474=)
c.1397C= (p.Ala466=)
c.1406C= (p.Ala469=)
c.1382C= (p.Ala461=)
c.1394C= (p.Ala465=)
1g.16996094G>TCA338252491ATP13A2c.1424C>A (p.Ala475Asp)
c.1409C>A (p.Ala470Asp)
n.1032C>A
n.452C>A
c.101C>A (p.Ala34Asp)
c.566C>A (p.Ala189Asp)
n.512C>A
c.452C>A (p.Ala151Asp)
c.1421C>A (p.Ala474Asp)
c.1397C>A (p.Ala466Asp)
c.1406C>A (p.Ala469Asp)
c.1382C>A (p.Ala461Asp)
c.1394C>A (p.Ala465Asp)
1g.16996095C>ACA338252492ATP13A2c.1423G>T (p.Ala475Ser)
c.1408G>T (p.Ala470Ser)
n.1031G>T
n.451G>T
c.100G>T (p.Ala34Ser)
c.565G>T (p.Ala189Ser)
n.511G>T
c.451G>T (p.Ala151Ser)
c.1420G>T (p.Ala474Ser)
c.1396G>T (p.Ala466Ser)
c.1405G>T (p.Ala469Ser)
c.1381G>T (p.Ala461Ser)
c.1393G>T (p.Ala465Ser)
1g.16996095C>GCA338252494ATP13A2c.1423G>C (p.Ala475Pro)
c.1408G>C (p.Ala470Pro)
n.1031G>C
n.451G>C
c.100G>C (p.Ala34Pro)
c.565G>C (p.Ala189Pro)
n.511G>C
c.451G>C (p.Ala151Pro)
c.1420G>C (p.Ala474Pro)
c.1396G>C (p.Ala466Pro)
c.1405G>C (p.Ala469Pro)
c.1381G>C (p.Ala461Pro)
c.1393G>C (p.Ala465Pro)
1g.16996095C>TCA338252498ATP13A2c.1423G>A (p.Ala475Thr)
c.1408G>A (p.Ala470Thr)
n.1031G>A
n.451G>A
c.100G>A (p.Ala34Thr)
c.565G>A (p.Ala189Thr)
n.511G>A
c.451G>A (p.Ala151Thr)
c.1420G>A (p.Ala474Thr)
c.1396G>A (p.Ala466Thr)
c.1405G>A (p.Ala469Thr)
c.1381G>A (p.Ala461Thr)
c.1393G>A (p.Ala465Thr)
 ClinVar
1g.16996095_16996096delCA2586964007ATP13A2c.1422_1423del (p.Ala475CysfsTer?)
c.1407_1408del (p.Ala470CysfsTer?)
n.1030_1031del
n.450_451del
c.99_100del (p.Ala34CysfsTer?)
c.564_565del (p.Ala189CysfsTer?)
n.510_511del
c.450_451del (p.Ala151CysfsTer?)
c.1419_1420del (p.Ala474CysfsTer?)
c.1395_1396del (p.Ala466CysfsTer?)
c.1404_1405del (p.Ala469CysfsTer?)
c.1380_1381del (p.Ala461CysfsTer?)
c.1392_1393del (p.Ala465CysfsTer?)
1g.16996096A>CCA416094811ATP13A2c.1422T>G (p.Pro474=)
c.1407T>G (p.Pro469=)
n.1030T>G
n.450T>G
c.99T>G (p.Pro33=)
c.564T>G (p.Pro188=)
n.510T>G
c.450T>G (p.Pro150=)
c.1419T>G (p.Pro473=)
c.1395T>G (p.Pro465=)
c.1404T>G (p.Pro468=)
c.1380T>G (p.Pro460=)
c.1392T>G (p.Pro464=)
1g.16996096A>GCA416094812ATP13A2c.1422T>C (p.Pro474=)
c.1407T>C (p.Pro469=)
n.1030T>C
n.450T>C
c.99T>C (p.Pro33=)
c.564T>C (p.Pro188=)
n.510T>C
c.450T>C (p.Pro150=)
c.1419T>C (p.Pro473=)
c.1395T>C (p.Pro465=)
c.1404T>C (p.Pro468=)
c.1380T>C (p.Pro460=)
c.1392T>C (p.Pro464=)
1g.16996096A>TCA416094813ATP13A2c.1422T>A (p.Pro474=)
c.1407T>A (p.Pro469=)
n.1030T>A
n.450T>A
c.99T>A (p.Pro33=)
c.564T>A (p.Pro188=)
n.510T>A
c.450T>A (p.Pro150=)
c.1419T>A (p.Pro473=)
c.1395T>A (p.Pro465=)
c.1404T>A (p.Pro468=)
c.1380T>A (p.Pro460=)
c.1392T>A (p.Pro464=)
1g.16996097G>ACA338252511ATP13A2c.1421C>T (p.Pro474Leu)
c.1406C>T (p.Pro469Leu)
n.1029C>T
n.449C>T
c.98C>T (p.Pro33Leu)
c.563C>T (p.Pro188Leu)
n.509C>T
c.449C>T (p.Pro150Leu)
c.1418C>T (p.Pro473Leu)
c.1394C>T (p.Pro465Leu)
c.1403C>T (p.Pro468Leu)
c.1379C>T (p.Pro460Leu)
c.1391C>T (p.Pro464Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.16996097G>CCA338252523ATP13A2c.1421C>G (p.Pro474Arg)
c.1406C>G (p.Pro469Arg)
n.1029C>G
n.449C>G
c.98C>G (p.Pro33Arg)
c.563C>G (p.Pro188Arg)
n.509C>G
c.449C>G (p.Pro150Arg)
c.1418C>G (p.Pro473Arg)
c.1394C>G (p.Pro465Arg)
c.1403C>G (p.Pro468Arg)
c.1379C>G (p.Pro460Arg)
c.1391C>G (p.Pro464Arg)
1g.16996097G=CA1156030650ATP13A2c.1421C= (p.Pro474=)
c.1406C= (p.Pro469=)
n.1029C=
n.449C=
c.98C= (p.Pro33=)
c.563C= (p.Pro188=)
n.509C=
c.449C= (p.Pro150=)
c.1418C= (p.Pro473=)
c.1394C= (p.Pro465=)
c.1403C= (p.Pro468=)
c.1379C= (p.Pro460=)
c.1391C= (p.Pro464=)
1g.16996097G>TCA338252513ATP13A2c.1421C>A (p.Pro474His)
c.1406C>A (p.Pro469His)
n.1029C>A
n.449C>A
c.98C>A (p.Pro33His)
c.563C>A (p.Pro188His)
n.509C>A
c.449C>A (p.Pro150His)
c.1418C>A (p.Pro473His)
c.1394C>A (p.Pro465His)
c.1403C>A (p.Pro468His)
c.1379C>A (p.Pro460His)
c.1391C>A (p.Pro464His)
1g.16996098G>ACA338252539ATP13A2c.1420C>T (p.Pro474Ser)
c.1405C>T (p.Pro469Ser)
n.1028C>T
n.448C>T
c.97C>T (p.Pro33Ser)
c.562C>T (p.Pro188Ser)
n.508C>T
c.448C>T (p.Pro150Ser)
c.1417C>T (p.Pro473Ser)
c.1393C>T (p.Pro465Ser)
c.1402C>T (p.Pro468Ser)
c.1378C>T (p.Pro460Ser)
c.1390C>T (p.Pro464Ser)
1g.16996098G>CCA637211ATP13A2c.1420C>G (p.Pro474Ala)
c.1405C>G (p.Pro469Ala)
n.1028C>G
n.448C>G
c.97C>G (p.Pro33Ala)
c.562C>G (p.Pro188Ala)
n.508C>G
c.448C>G (p.Pro150Ala)
c.1417C>G (p.Pro473Ala)
c.1393C>G (p.Pro465Ala)
c.1402C>G (p.Pro468Ala)
c.1378C>G (p.Pro460Ala)
c.1390C>G (p.Pro464Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996098G=CA1144493206ATP13A2c.1420C= (p.Pro474=)
c.1405C= (p.Pro469=)
n.1028C=
n.448C=
c.97C= (p.Pro33=)
c.562C= (p.Pro188=)
n.508C=
c.448C= (p.Pro150=)
c.1417C= (p.Pro473=)
c.1393C= (p.Pro465=)
c.1402C= (p.Pro468=)
c.1378C= (p.Pro460=)
c.1390C= (p.Pro464=)
1g.16996098G>TCA338252548ATP13A2c.1420C>A (p.Pro474Thr)
c.1405C>A (p.Pro469Thr)
n.1028C>A
n.448C>A
c.97C>A (p.Pro33Thr)
c.562C>A (p.Pro188Thr)
n.508C>A
c.448C>A (p.Pro150Thr)
c.1417C>A (p.Pro473Thr)
c.1393C>A (p.Pro465Thr)
c.1402C>A (p.Pro468Thr)
c.1378C>A (p.Pro460Thr)
c.1390C>A (p.Pro464Thr)
1g.16996099C>ACA416094503ATP13A2c.1419G>T (p.Leu473=)
c.1404G>T (p.Leu468=)
n.1027G>T
n.447G>T
c.96G>T (p.Leu32=)
c.561G>T (p.Leu187=)
n.507G>T
c.447G>T (p.Leu149=)
c.1416G>T (p.Leu472=)
c.1392G>T (p.Leu464=)
c.1401G>T (p.Leu467=)
c.1377G>T (p.Leu459=)
c.1389G>T (p.Leu463=)
1g.16996099C=CA1148235153ATP13A2c.1419G= (p.Leu473=)
c.1404G= (p.Leu468=)
n.1027G=
n.447G=
c.96G= (p.Leu32=)
c.561G= (p.Leu187=)
n.507G=
c.447G= (p.Leu149=)
c.1416G= (p.Leu472=)
c.1392G= (p.Leu464=)
c.1401G= (p.Leu467=)
c.1377G= (p.Leu459=)
c.1389G= (p.Leu463=)
1g.16996099C>GCA416094504ATP13A2c.1419G>C (p.Leu473=)
c.1404G>C (p.Leu468=)
n.1027G>C
n.447G>C
c.96G>C (p.Leu32=)
c.561G>C (p.Leu187=)
n.507G>C
c.447G>C (p.Leu149=)
c.1416G>C (p.Leu472=)
c.1392G>C (p.Leu464=)
c.1401G>C (p.Leu467=)
c.1377G>C (p.Leu459=)
c.1389G>C (p.Leu463=)
1g.16996099C>TCA637212ATP13A2c.1419G>A (p.Leu473=)
c.1404G>A (p.Leu468=)
n.1027G>A
n.447G>A
c.96G>A (p.Leu32=)
c.561G>A (p.Leu187=)
n.507G>A
c.447G>A (p.Leu149=)
c.1416G>A (p.Leu472=)
c.1392G>A (p.Leu464=)
c.1401G>A (p.Leu467=)
c.1377G>A (p.Leu459=)
c.1389G>A (p.Leu463=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996100A=CA1145998148ATP13A2c.1418T= (p.Leu473=)
c.1403T= (p.Leu468=)
n.1026T=
n.446T=
c.95T= (p.Leu32=)
c.560T= (p.Leu187=)
n.506T=
c.446T= (p.Leu149=)
c.1415T= (p.Leu472=)
c.1391T= (p.Leu464=)
c.1400T= (p.Leu467=)
c.1376T= (p.Leu459=)
c.1388T= (p.Leu463=)
1g.16996100A>CCA637213ATP13A2c.1418T>G (p.Leu473Arg)
c.1403T>G (p.Leu468Arg)
n.1026T>G
n.446T>G
c.95T>G (p.Leu32Arg)
c.560T>G (p.Leu187Arg)
n.506T>G
c.446T>G (p.Leu149Arg)
c.1415T>G (p.Leu472Arg)
c.1391T>G (p.Leu464Arg)
c.1400T>G (p.Leu467Arg)
c.1376T>G (p.Leu459Arg)
c.1388T>G (p.Leu463Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996100A>GCA338252555ATP13A2c.1418T>C (p.Leu473Pro)
c.1403T>C (p.Leu468Pro)
n.1026T>C
n.446T>C
c.95T>C (p.Leu32Pro)
c.560T>C (p.Leu187Pro)
n.506T>C
c.446T>C (p.Leu149Pro)
c.1415T>C (p.Leu472Pro)
c.1391T>C (p.Leu464Pro)
c.1400T>C (p.Leu467Pro)
c.1376T>C (p.Leu459Pro)
c.1388T>C (p.Leu463Pro)
1g.16996100A>TCA338252557ATP13A2c.1418T>A (p.Leu473Gln)
c.1403T>A (p.Leu468Gln)
n.1026T>A
n.446T>A
c.95T>A (p.Leu32Gln)
c.560T>A (p.Leu187Gln)
n.506T>A
c.446T>A (p.Leu149Gln)
c.1415T>A (p.Leu472Gln)
c.1391T>A (p.Leu464Gln)
c.1400T>A (p.Leu467Gln)
c.1376T>A (p.Leu459Gln)
c.1388T>A (p.Leu463Gln)
1g.16996101G>ACA416094505ATP13A2c.1417C>T (p.Leu473=)
c.1402C>T (p.Leu468=)
n.1025C>T
n.445C>T
c.94C>T (p.Leu32=)
c.559C>T (p.Leu187=)
n.505C>T
c.445C>T (p.Leu149=)
c.1414C>T (p.Leu472=)
c.1390C>T (p.Leu464=)
c.1399C>T (p.Leu467=)
c.1375C>T (p.Leu459=)
c.1387C>T (p.Leu463=)
1g.16996101G>CCA338252566ATP13A2c.1417C>G (p.Leu473Val)
c.1402C>G (p.Leu468Val)
n.1025C>G
n.445C>G
c.94C>G (p.Leu32Val)
c.559C>G (p.Leu187Val)
n.505C>G
c.445C>G (p.Leu149Val)
c.1414C>G (p.Leu472Val)
c.1390C>G (p.Leu464Val)
c.1399C>G (p.Leu467Val)
c.1375C>G (p.Leu459Val)
c.1387C>G (p.Leu463Val)
 dbSNP gnomAD v3 gnomAD v4
1g.16996101G=CA1156030665ATP13A2c.1417C= (p.Leu473=)
c.1402C= (p.Leu468=)
n.1025C=
n.445C=
c.94C= (p.Leu32=)
c.559C= (p.Leu187=)
n.505C=
c.445C= (p.Leu149=)
c.1414C= (p.Leu472=)
c.1390C= (p.Leu464=)
c.1399C= (p.Leu467=)
c.1375C= (p.Leu459=)
c.1387C= (p.Leu463=)
1g.16996101G>TCA338252568ATP13A2c.1417C>A (p.Leu473Met)
c.1402C>A (p.Leu468Met)
n.1025C>A
n.445C>A
c.94C>A (p.Leu32Met)
c.559C>A (p.Leu187Met)
n.505C>A
c.445C>A (p.Leu149Met)
c.1414C>A (p.Leu472Met)
c.1390C>A (p.Leu464Met)
c.1399C>A (p.Leu467Met)
c.1375C>A (p.Leu459Met)
c.1387C>A (p.Leu463Met)
1g.16996102G>ACA416094506ATP13A2c.1416C>T (p.Ala472=)
c.1401C>T (p.Ala467=)
n.1024C>T
n.444C>T
c.93C>T (p.Ala31=)
c.558C>T (p.Ala186=)
n.504C>T
c.444C>T (p.Ala148=)
c.1413C>T (p.Ala471=)
c.1389C>T (p.Ala463=)
c.1398C>T (p.Ala466=)
c.1374C>T (p.Ala458=)
c.1386C>T (p.Ala462=)
1g.16996102G>CCA416094508ATP13A2c.1416C>G (p.Ala472=)
c.1401C>G (p.Ala467=)
n.1024C>G
n.444C>G
c.93C>G (p.Ala31=)
c.558C>G (p.Ala186=)
n.504C>G
c.444C>G (p.Ala148=)
c.1413C>G (p.Ala471=)
c.1389C>G (p.Ala463=)
c.1398C>G (p.Ala466=)
c.1374C>G (p.Ala458=)
c.1386C>G (p.Ala462=)
1g.16996102G>TCA416094507ATP13A2c.1416C>A (p.Ala472=)
c.1401C>A (p.Ala467=)
n.1024C>A
n.444C>A
c.93C>A (p.Ala31=)
c.558C>A (p.Ala186=)
n.504C>A
c.444C>A (p.Ala148=)
c.1413C>A (p.Ala471=)
c.1389C>A (p.Ala463=)
c.1398C>A (p.Ala466=)
c.1374C>A (p.Ala458=)
c.1386C>A (p.Ala462=)
1g.16996103G>ACA338252585ATP13A2c.1415C>T (p.Ala472Val)
c.1400C>T (p.Ala467Val)
n.1023C>T
n.443C>T
c.92C>T (p.Ala31Val)
c.557C>T (p.Ala186Val)
n.503C>T
c.443C>T (p.Ala148Val)
c.1412C>T (p.Ala471Val)
c.1388C>T (p.Ala463Val)
c.1397C>T (p.Ala466Val)
c.1373C>T (p.Ala458Val)
c.1385C>T (p.Ala462Val)
1g.16996103G>CCA338252591ATP13A2c.1415C>G (p.Ala472Gly)
c.1400C>G (p.Ala467Gly)
n.1023C>G
n.443C>G
c.92C>G (p.Ala31Gly)
c.557C>G (p.Ala186Gly)
n.503C>G
c.443C>G (p.Ala148Gly)
c.1412C>G (p.Ala471Gly)
c.1388C>G (p.Ala463Gly)
c.1397C>G (p.Ala466Gly)
c.1373C>G (p.Ala458Gly)
c.1385C>G (p.Ala462Gly)
1g.16996103G>TCA338252592ATP13A2c.1415C>A (p.Ala472Asp)
c.1400C>A (p.Ala467Asp)
n.1023C>A
n.443C>A
c.92C>A (p.Ala31Asp)
c.557C>A (p.Ala186Asp)
n.503C>A
c.443C>A (p.Ala148Asp)
c.1412C>A (p.Ala471Asp)
c.1388C>A (p.Ala463Asp)
c.1397C>A (p.Ala466Asp)
c.1373C>A (p.Ala458Asp)
c.1385C>A (p.Ala462Asp)
1g.16996104C>ACA338252594ATP13A2c.1414G>T (p.Ala472Ser)
c.1399G>T (p.Ala467Ser)
n.1022G>T
n.442G>T
c.91G>T (p.Ala31Ser)
c.556G>T (p.Ala186Ser)
n.502G>T
c.442G>T (p.Ala148Ser)
c.1411G>T (p.Ala471Ser)
c.1387G>T (p.Ala463Ser)
c.1396G>T (p.Ala466Ser)
c.1372G>T (p.Ala458Ser)
c.1384G>T (p.Ala462Ser)
 gnomAD v4
1g.16996104C>GCA338252610ATP13A2c.1414G>C (p.Ala472Pro)
c.1399G>C (p.Ala467Pro)
n.1022G>C
n.442G>C
c.91G>C (p.Ala31Pro)
c.556G>C (p.Ala186Pro)
n.502G>C
c.442G>C (p.Ala148Pro)
c.1411G>C (p.Ala471Pro)
c.1387G>C (p.Ala463Pro)
c.1396G>C (p.Ala466Pro)
c.1372G>C (p.Ala458Pro)
c.1384G>C (p.Ala462Pro)
1g.16996104C>TCA338252606ATP13A2c.1414G>A (p.Ala472Thr)
c.1399G>A (p.Ala467Thr)
n.1022G>A
n.442G>A
c.91G>A (p.Ala31Thr)
c.556G>A (p.Ala186Thr)
n.502G>A
c.442G>A (p.Ala148Thr)
c.1411G>A (p.Ala471Thr)
c.1387G>A (p.Ala463Thr)
c.1396G>A (p.Ala466Thr)
c.1372G>A (p.Ala458Thr)
c.1384G>A (p.Ala462Thr)
 gnomAD v4
1g.16996105A>CCA416094509ATP13A2c.1413T>G (p.Pro471=)
c.1398T>G (p.Pro466=)
n.1021T>G
n.441T>G
c.90T>G (p.Pro30=)
c.555T>G (p.Pro185=)
n.501T>G
c.441T>G (p.Pro147=)
c.1410T>G (p.Pro470=)
c.1386T>G (p.Pro462=)
c.1395T>G (p.Pro465=)
c.1371T>G (p.Pro457=)
c.1383T>G (p.Pro461=)
1g.16996105A>GCA416094510ATP13A2c.1413T>C (p.Pro471=)
c.1398T>C (p.Pro466=)
n.1021T>C
n.441T>C
c.90T>C (p.Pro30=)
c.555T>C (p.Pro185=)
n.501T>C
c.441T>C (p.Pro147=)
c.1410T>C (p.Pro470=)
c.1386T>C (p.Pro462=)
c.1395T>C (p.Pro465=)
c.1371T>C (p.Pro457=)
c.1383T>C (p.Pro461=)
1g.16996105A>TCA416094511ATP13A2c.1413T>A (p.Pro471=)
c.1398T>A (p.Pro466=)
n.1021T>A
n.441T>A
c.90T>A (p.Pro30=)
c.555T>A (p.Pro185=)
n.501T>A
c.441T>A (p.Pro147=)
c.1410T>A (p.Pro470=)
c.1386T>A (p.Pro462=)
c.1395T>A (p.Pro465=)
c.1371T>A (p.Pro457=)
c.1383T>A (p.Pro461=)
1g.16996106G>ACA338252613ATP13A2c.1412C>T (p.Pro471Leu)
c.1397C>T (p.Pro466Leu)
n.1020C>T
n.440C>T
c.89C>T (p.Pro30Leu)
c.554C>T (p.Pro185Leu)
n.500C>T
c.440C>T (p.Pro147Leu)
c.1409C>T (p.Pro470Leu)
c.1385C>T (p.Pro462Leu)
c.1394C>T (p.Pro465Leu)
c.1370C>T (p.Pro457Leu)
c.1382C>T (p.Pro461Leu)
 gnomAD v4
1g.16996106G>CCA338252616ATP13A2c.1412C>G (p.Pro471Arg)
c.1397C>G (p.Pro466Arg)
n.1020C>G
n.440C>G
c.89C>G (p.Pro30Arg)
c.554C>G (p.Pro185Arg)
n.500C>G
c.440C>G (p.Pro147Arg)
c.1409C>G (p.Pro470Arg)
c.1385C>G (p.Pro462Arg)
c.1394C>G (p.Pro465Arg)
c.1370C>G (p.Pro457Arg)
c.1382C>G (p.Pro461Arg)
1g.16996106G>TCA338252620ATP13A2c.1412C>A (p.Pro471His)
c.1397C>A (p.Pro466His)
n.1020C>A
n.440C>A
c.89C>A (p.Pro30His)
c.554C>A (p.Pro185His)
n.500C>A
c.440C>A (p.Pro147His)
c.1409C>A (p.Pro470His)
c.1385C>A (p.Pro462His)
c.1394C>A (p.Pro465His)
c.1370C>A (p.Pro457His)
c.1382C>A (p.Pro461His)
1g.16996107G>ACA338252623ATP13A2c.1411C>T (p.Pro471Ser)
c.1396C>T (p.Pro466Ser)
n.1019C>T
n.439C>T
c.88C>T (p.Pro30Ser)
c.553C>T (p.Pro185Ser)
n.499C>T
c.439C>T (p.Pro147Ser)
c.1408C>T (p.Pro470Ser)
c.1384C>T (p.Pro462Ser)
c.1393C>T (p.Pro465Ser)
c.1369C>T (p.Pro457Ser)
c.1381C>T (p.Pro461Ser)
1g.16996107G>CCA338252629ATP13A2c.1411C>G (p.Pro471Ala)
c.1396C>G (p.Pro466Ala)
n.1019C>G
n.439C>G
c.88C>G (p.Pro30Ala)
c.553C>G (p.Pro185Ala)
n.499C>G
c.439C>G (p.Pro147Ala)
c.1408C>G (p.Pro470Ala)
c.1384C>G (p.Pro462Ala)
c.1393C>G (p.Pro465Ala)
c.1369C>G (p.Pro457Ala)
c.1381C>G (p.Pro461Ala)
1g.16996107G>TCA338252640ATP13A2c.1411C>A (p.Pro471Thr)
c.1396C>A (p.Pro466Thr)
n.1019C>A
n.439C>A
c.88C>A (p.Pro30Thr)
c.553C>A (p.Pro185Thr)
n.499C>A
c.439C>A (p.Pro147Thr)
c.1408C>A (p.Pro470Thr)
c.1384C>A (p.Pro462Thr)
c.1393C>A (p.Pro465Thr)
c.1369C>A (p.Pro457Thr)
c.1381C>A (p.Pro461Thr)
1g.16996108T>ACA416094512ATP13A2c.1410A>T (p.Pro470=)
c.1395A>T (p.Pro465=)
n.1018A>T
n.438A>T
c.87A>T (p.Pro29=)
c.552A>T (p.Pro184=)
n.498A>T
c.438A>T (p.Pro146=)
c.1407A>T (p.Pro469=)
c.1383A>T (p.Pro461=)
c.1392A>T (p.Pro464=)
c.1368A>T (p.Pro456=)
c.1380A>T (p.Pro460=)
 gnomAD v4
1g.16996108T>CCA416094513ATP13A2c.1410A>G (p.Pro470=)
c.1395A>G (p.Pro465=)
n.1018A>G
n.438A>G
c.87A>G (p.Pro29=)
c.552A>G (p.Pro184=)
n.498A>G
c.438A>G (p.Pro146=)
c.1407A>G (p.Pro469=)
c.1383A>G (p.Pro461=)
c.1392A>G (p.Pro464=)
c.1368A>G (p.Pro456=)
c.1380A>G (p.Pro460=)
 dbSNP
1g.16996108T>GCA416094514ATP13A2c.1410A>C (p.Pro470=)
c.1395A>C (p.Pro465=)
n.1018A>C
n.438A>C
c.87A>C (p.Pro29=)
c.552A>C (p.Pro184=)
n.498A>C
c.438A>C (p.Pro146=)
c.1407A>C (p.Pro469=)
c.1383A>C (p.Pro461=)
c.1392A>C (p.Pro464=)
c.1368A>C (p.Pro456=)
c.1380A>C (p.Pro460=)
 dbSNP
1g.16996108T=CA1156030676ATP13A2c.1410A= (p.Pro470=)
c.1395A= (p.Pro465=)
n.1018A=
n.438A=
c.87A= (p.Pro29=)
c.552A= (p.Pro184=)
n.498A=
c.438A= (p.Pro146=)
c.1407A= (p.Pro469=)
c.1383A= (p.Pro461=)
c.1392A= (p.Pro464=)
c.1368A= (p.Pro456=)
c.1380A= (p.Pro460=)
1g.16996108_16996173delinsTGGCACCACCACGGTCACCAGGTCGAGAGCCCGGATTACAATCTCATTCAGAGGCACCTGGCAGGGCA1156030673ATP13A2c.1354-9_1410delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA
c.1339-9_1395delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA
n.962-9_1018delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA
n.382-9_438delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA
c.31-9_87delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA
c.496-9_552delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA
n.442-9_498delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA
c.382-9_438delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA
c.1351-9_1407delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA
c.1327-9_1383delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA
c.1336-9_1392delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA
c.1312-9_1368delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA
c.1324-9_1380delinsCCCTGCCAGGTGCCTCTGAATGAGATTGTAATCCGGGCTCTCGACCTGGTGACCGTGGTGGTGCCA
1g.16996109G>ACA338252642ATP13A2c.1409C>T (p.Pro470Leu)
c.1394C>T (p.Pro465Leu)
n.1017C>T
n.437C>T
c.86C>T (p.Pro29Leu)
c.551C>T (p.Pro184Leu)
n.497C>T
c.437C>T (p.Pro146Leu)
c.1406C>T (p.Pro469Leu)
c.1382C>T (p.Pro461Leu)
c.1391C>T (p.Pro464Leu)
c.1367C>T (p.Pro456Leu)
c.1379C>T (p.Pro460Leu)
1g.16996109G>CCA338252645ATP13A2c.1409C>G (p.Pro470Arg)
c.1394C>G (p.Pro465Arg)
n.1017C>G
n.437C>G
c.86C>G (p.Pro29Arg)
c.551C>G (p.Pro184Arg)
n.497C>G
c.437C>G (p.Pro146Arg)
c.1406C>G (p.Pro469Arg)
c.1382C>G (p.Pro461Arg)
c.1391C>G (p.Pro464Arg)
c.1367C>G (p.Pro456Arg)
c.1379C>G (p.Pro460Arg)
1g.16996109G>TCA338252647ATP13A2c.1409C>A (p.Pro470Gln)
c.1394C>A (p.Pro465Gln)
n.1017C>A
n.437C>A
c.86C>A (p.Pro29Gln)
c.551C>A (p.Pro184Gln)
n.497C>A
c.437C>A (p.Pro146Gln)
c.1406C>A (p.Pro469Gln)
c.1382C>A (p.Pro461Gln)
c.1391C>A (p.Pro464Gln)
c.1367C>A (p.Pro456Gln)
c.1379C>A (p.Pro460Gln)
1g.16996116_16996180delCA521449721ATP13A2c.1354-9_1409del
c.1339-9_1394del
n.962-9_1017del
n.382-9_437del
c.31-9_86del
c.496-9_551del
n.442-9_497del
c.382-9_437del
c.1351-9_1406del
c.1327-9_1382del
c.1336-9_1391del
c.1312-9_1367del
c.1324-9_1379del
 dbSNP gnomAD v2 gnomAD v4
1g.16996110G>ACA338252649ATP13A2c.1408C>T (p.Pro470Ser)
c.1393C>T (p.Pro465Ser)
n.1016C>T
n.436C>T
c.85C>T (p.Pro29Ser)
c.550C>T (p.Pro184Ser)
n.496C>T
c.436C>T (p.Pro146Ser)
c.1405C>T (p.Pro469Ser)
c.1381C>T (p.Pro461Ser)
c.1390C>T (p.Pro464Ser)
c.1366C>T (p.Pro456Ser)
c.1378C>T (p.Pro460Ser)
 dbSNP
1g.16996110G>CCA338252650ATP13A2c.1408C>G (p.Pro470Ala)
c.1393C>G (p.Pro465Ala)
n.1016C>G
n.436C>G
c.85C>G (p.Pro29Ala)
c.550C>G (p.Pro184Ala)
n.496C>G
c.436C>G (p.Pro146Ala)
c.1405C>G (p.Pro469Ala)
c.1381C>G (p.Pro461Ala)
c.1390C>G (p.Pro464Ala)
c.1366C>G (p.Pro456Ala)
c.1378C>G (p.Pro460Ala)
1g.16996110G=CA1156030683ATP13A2c.1408C= (p.Pro470=)
c.1393C= (p.Pro465=)
n.1016C=
n.436C=
c.85C= (p.Pro29=)
c.550C= (p.Pro184=)
n.496C=
c.436C= (p.Pro146=)
c.1405C= (p.Pro469=)
c.1381C= (p.Pro461=)
c.1390C= (p.Pro464=)
c.1366C= (p.Pro456=)
c.1378C= (p.Pro460=)
1g.16996110G>TCA338252651ATP13A2c.1408C>A (p.Pro470Thr)
c.1393C>A (p.Pro465Thr)
n.1016C>A
n.436C>A
c.85C>A (p.Pro29Thr)
c.550C>A (p.Pro184Thr)
n.496C>A
c.436C>A (p.Pro146Thr)
c.1405C>A (p.Pro469Thr)
c.1381C>A (p.Pro461Thr)
c.1390C>A (p.Pro464Thr)
c.1366C>A (p.Pro456Thr)
c.1378C>A (p.Pro460Thr)
1g.16996111C>ACA416094515ATP13A2c.1407G>T (p.Val469=)
c.1392G>T (p.Val464=)
n.1015G>T
n.435G>T
c.84G>T (p.Val28=)
c.549G>T (p.Val183=)
n.495G>T
c.435G>T (p.Val145=)
c.1404G>T (p.Val468=)
c.1380G>T (p.Val460=)
c.1389G>T (p.Val463=)
c.1365G>T (p.Val455=)
c.1377G>T (p.Val459=)
1g.16996111C>GCA416094516ATP13A2c.1407G>C (p.Val469=)
c.1392G>C (p.Val464=)
n.1015G>C
n.435G>C
c.84G>C (p.Val28=)
c.549G>C (p.Val183=)
n.495G>C
c.435G>C (p.Val145=)
c.1404G>C (p.Val468=)
c.1380G>C (p.Val460=)
c.1389G>C (p.Val463=)
c.1365G>C (p.Val455=)
c.1377G>C (p.Val459=)
1g.16996111C>TCA416094517ATP13A2c.1407G>A (p.Val469=)
c.1392G>A (p.Val464=)
n.1015G>A
n.435G>A
c.84G>A (p.Val28=)
c.549G>A (p.Val183=)
n.495G>A
c.435G>A (p.Val145=)
c.1404G>A (p.Val468=)
c.1380G>A (p.Val460=)
c.1389G>A (p.Val463=)
c.1365G>A (p.Val455=)
c.1377G>A (p.Val459=)
 gnomAD v4
1g.16996117_16996119delCA2643673782ATP13A2c.1405_1407del (p.Val469del)
c.1390_1392del (p.Val464del)
n.1013_1015del
n.433_435del
c.82_84del (p.Val28del)
c.547_549del (p.Val183del)
n.493_495del
c.433_435del (p.Val145del)
c.1402_1404del (p.Val468del)
c.1378_1380del (p.Val460del)
c.1387_1389del (p.Val463del)
c.1363_1365del (p.Val455del)
c.1375_1377del (p.Val459del)
 gnomAD v4
1g.16996112A>CCA338252659ATP13A2c.1406T>G (p.Val469Gly)
c.1391T>G (p.Val464Gly)
n.1014T>G
n.434T>G
c.83T>G (p.Val28Gly)
c.548T>G (p.Val183Gly)
n.494T>G
c.434T>G (p.Val145Gly)
c.1403T>G (p.Val468Gly)
c.1379T>G (p.Val460Gly)
c.1388T>G (p.Val463Gly)
c.1364T>G (p.Val455Gly)
c.1376T>G (p.Val459Gly)
 gnomAD v4
1g.16996112A>GCA338252657ATP13A2c.1406T>C (p.Val469Ala)
c.1391T>C (p.Val464Ala)
n.1014T>C
n.434T>C
c.83T>C (p.Val28Ala)
c.548T>C (p.Val183Ala)
n.494T>C
c.434T>C (p.Val145Ala)
c.1403T>C (p.Val468Ala)
c.1379T>C (p.Val460Ala)
c.1388T>C (p.Val463Ala)
c.1364T>C (p.Val455Ala)
c.1376T>C (p.Val459Ala)
1g.16996112A>TCA338252653ATP13A2c.1406T>A (p.Val469Glu)
c.1391T>A (p.Val464Glu)
n.1014T>A
n.434T>A
c.83T>A (p.Val28Glu)
c.548T>A (p.Val183Glu)
n.494T>A
c.434T>A (p.Val145Glu)
c.1403T>A (p.Val468Glu)
c.1379T>A (p.Val460Glu)
c.1388T>A (p.Val463Glu)
c.1364T>A (p.Val455Glu)
c.1376T>A (p.Val459Glu)
1g.16996113C>ACA338252662ATP13A2c.1405G>T (p.Val469Leu)
c.1390G>T (p.Val464Leu)
n.1013G>T
n.433G>T
c.82G>T (p.Val28Leu)
c.547G>T (p.Val183Leu)
n.493G>T
c.433G>T (p.Val145Leu)
c.1402G>T (p.Val468Leu)
c.1378G>T (p.Val460Leu)
c.1387G>T (p.Val463Leu)
c.1363G>T (p.Val455Leu)
c.1375G>T (p.Val459Leu)
 gnomAD v4
1g.16996113C=CA1156030684ATP13A2c.1405G= (p.Val469=)
c.1390G= (p.Val464=)
n.1013G=
n.433G=
c.82G= (p.Val28=)
c.547G= (p.Val183=)
n.493G=
c.433G= (p.Val145=)
c.1402G= (p.Val468=)
c.1378G= (p.Val460=)
c.1387G= (p.Val463=)
c.1363G= (p.Val455=)
c.1375G= (p.Val459=)
1g.16996113C>GCA338252668ATP13A2c.1405G>C (p.Val469Leu)
c.1390G>C (p.Val464Leu)
n.1013G>C
n.433G>C
c.82G>C (p.Val28Leu)
c.547G>C (p.Val183Leu)
n.493G>C
c.433G>C (p.Val145Leu)
c.1402G>C (p.Val468Leu)
c.1378G>C (p.Val460Leu)
c.1387G>C (p.Val463Leu)
c.1363G>C (p.Val455Leu)
c.1375G>C (p.Val459Leu)
1g.16996113C>TCA338252670ATP13A2c.1405G>A (p.Val469Met)
c.1390G>A (p.Val464Met)
n.1013G>A
n.433G>A
c.82G>A (p.Val28Met)
c.547G>A (p.Val183Met)
n.493G>A
c.433G>A (p.Val145Met)
c.1402G>A (p.Val468Met)
c.1378G>A (p.Val460Met)
c.1387G>A (p.Val463Met)
c.1363G>A (p.Val455Met)
c.1375G>A (p.Val459Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16996114C>ACA416094518ATP13A2c.1404G>T (p.Val468=)
c.1389G>T (p.Val463=)
n.1012G>T
n.432G>T
c.81G>T (p.Val27=)
c.546G>T (p.Val182=)
n.492G>T
c.432G>T (p.Val144=)
c.1401G>T (p.Val467=)
c.1377G>T (p.Val459=)
c.1386G>T (p.Val462=)
c.1362G>T (p.Val454=)
c.1374G>T (p.Val458=)
1g.16996114C=CA1156030687ATP13A2c.1404G= (p.Val468=)
c.1389G= (p.Val463=)
n.1012G=
n.432G=
c.81G= (p.Val27=)
c.546G= (p.Val182=)
n.492G=
c.432G= (p.Val144=)
c.1401G= (p.Val467=)
c.1377G= (p.Val459=)
c.1386G= (p.Val462=)
c.1362G= (p.Val454=)
c.1374G= (p.Val458=)
1g.16996114C>GCA416094519ATP13A2c.1404G>C (p.Val468=)
c.1389G>C (p.Val463=)
n.1012G>C
n.432G>C
c.81G>C (p.Val27=)
c.546G>C (p.Val182=)
n.492G>C
c.432G>C (p.Val144=)
c.1401G>C (p.Val467=)
c.1377G>C (p.Val459=)
c.1386G>C (p.Val462=)
c.1362G>C (p.Val454=)
c.1374G>C (p.Val458=)
1g.16996114C>TCA416094520ATP13A2c.1404G>A (p.Val468=)
c.1389G>A (p.Val463=)
n.1012G>A
n.432G>A
c.81G>A (p.Val27=)
c.546G>A (p.Val182=)
n.492G>A
c.432G>A (p.Val144=)
c.1401G>A (p.Val467=)
c.1377G>A (p.Val459=)
c.1386G>A (p.Val462=)
c.1362G>A (p.Val454=)
c.1374G>A (p.Val458=)
 dbSNP gnomAD v4
1g.16996115A>CCA338252673ATP13A2c.1403T>G (p.Val468Gly)
c.1388T>G (p.Val463Gly)
n.1011T>G
n.431T>G
c.80T>G (p.Val27Gly)
c.545T>G (p.Val182Gly)
n.491T>G
c.431T>G (p.Val144Gly)
c.1400T>G (p.Val467Gly)
c.1376T>G (p.Val459Gly)
c.1385T>G (p.Val462Gly)
c.1361T>G (p.Val454Gly)
c.1373T>G (p.Val458Gly)
1g.16996115A>GCA338252679ATP13A2c.1403T>C (p.Val468Ala)
c.1388T>C (p.Val463Ala)
n.1011T>C
n.431T>C
c.80T>C (p.Val27Ala)
c.545T>C (p.Val182Ala)
n.491T>C
c.431T>C (p.Val144Ala)
c.1400T>C (p.Val467Ala)
c.1376T>C (p.Val459Ala)
c.1385T>C (p.Val462Ala)
c.1361T>C (p.Val454Ala)
c.1373T>C (p.Val458Ala)
1g.16996115A>TCA338252682ATP13A2c.1403T>A (p.Val468Glu)
c.1388T>A (p.Val463Glu)
n.1011T>A
n.431T>A
c.80T>A (p.Val27Glu)
c.545T>A (p.Val182Glu)
n.491T>A
c.431T>A (p.Val144Glu)
c.1400T>A (p.Val467Glu)
c.1376T>A (p.Val459Glu)
c.1385T>A (p.Val462Glu)
c.1361T>A (p.Val454Glu)
c.1373T>A (p.Val458Glu)
1g.16996116C>ACA338252683ATP13A2c.1402G>T (p.Val468Leu)
c.1387G>T (p.Val463Leu)
n.1010G>T
n.430G>T
c.79G>T (p.Val27Leu)
c.544G>T (p.Val182Leu)
n.490G>T
c.430G>T (p.Val144Leu)
c.1399G>T (p.Val467Leu)
c.1375G>T (p.Val459Leu)
c.1384G>T (p.Val462Leu)
c.1360G>T (p.Val454Leu)
c.1372G>T (p.Val458Leu)
1g.16996116C>GCA338252684ATP13A2c.1402G>C (p.Val468Leu)
c.1387G>C (p.Val463Leu)
n.1010G>C
n.430G>C
c.79G>C (p.Val27Leu)
c.544G>C (p.Val182Leu)
n.490G>C
c.430G>C (p.Val144Leu)
c.1399G>C (p.Val467Leu)
c.1375G>C (p.Val459Leu)
c.1384G>C (p.Val462Leu)
c.1360G>C (p.Val454Leu)
c.1372G>C (p.Val458Leu)
1g.16996116C>TCA338252685ATP13A2c.1402G>A (p.Val468Met)
c.1387G>A (p.Val463Met)
n.1010G>A
n.430G>A
c.79G>A (p.Val27Met)
c.544G>A (p.Val182Met)
n.490G>A
c.430G>A (p.Val144Met)
c.1399G>A (p.Val467Met)
c.1375G>A (p.Val459Met)
c.1384G>A (p.Val462Met)
c.1360G>A (p.Val454Met)
c.1372G>A (p.Val458Met)
 gnomAD v4
1g.16996117C>ACA416094521ATP13A2c.1401G>T (p.Val467=)
c.1386G>T (p.Val462=)
n.1009G>T
n.429G>T
c.78G>T (p.Val26=)
c.543G>T (p.Val181=)
n.489G>T
c.429G>T (p.Val143=)
c.1398G>T (p.Val466=)
c.1374G>T (p.Val458=)
c.1383G>T (p.Val461=)
c.1359G>T (p.Val453=)
c.1371G>T (p.Val457=)
1g.16996117C>GCA416094523ATP13A2c.1401G>C (p.Val467=)
c.1386G>C (p.Val462=)
n.1009G>C
n.429G>C
c.78G>C (p.Val26=)
c.543G>C (p.Val181=)
n.489G>C
c.429G>C (p.Val143=)
c.1398G>C (p.Val466=)
c.1374G>C (p.Val458=)
c.1383G>C (p.Val461=)
c.1359G>C (p.Val453=)
c.1371G>C (p.Val457=)
1g.16996117C>TCA416094522ATP13A2c.1401G>A (p.Val467=)
c.1386G>A (p.Val462=)
n.1009G>A
n.429G>A
c.78G>A (p.Val26=)
c.543G>A (p.Val181=)
n.489G>A
c.429G>A (p.Val143=)
c.1398G>A (p.Val466=)
c.1374G>A (p.Val458=)
c.1383G>A (p.Val461=)
c.1359G>A (p.Val453=)
c.1371G>A (p.Val457=)
1g.16996118A=CA1147045981ATP13A2c.1400T= (p.Val467=)
c.1385T= (p.Val462=)
n.1008T=
n.428T=
c.77T= (p.Val26=)
c.542T= (p.Val181=)
n.488T=
c.428T= (p.Val143=)
c.1397T= (p.Val466=)
c.1373T= (p.Val458=)
c.1382T= (p.Val461=)
c.1358T= (p.Val453=)
c.1370T= (p.Val457=)
1g.16996118A>CCA338252686ATP13A2c.1400T>G (p.Val467Gly)
c.1385T>G (p.Val462Gly)
n.1008T>G
n.428T>G
c.77T>G (p.Val26Gly)
c.542T>G (p.Val181Gly)
n.488T>G
c.428T>G (p.Val143Gly)
c.1397T>G (p.Val466Gly)
c.1373T>G (p.Val458Gly)
c.1382T>G (p.Val461Gly)
c.1358T>G (p.Val453Gly)
c.1370T>G (p.Val457Gly)
1g.16996118A>GCA338252687ATP13A2c.1400T>C (p.Val467Ala)
c.1385T>C (p.Val462Ala)
n.1008T>C
n.428T>C
c.77T>C (p.Val26Ala)
c.542T>C (p.Val181Ala)
n.488T>C
c.428T>C (p.Val143Ala)
c.1397T>C (p.Val466Ala)
c.1373T>C (p.Val458Ala)
c.1382T>C (p.Val461Ala)
c.1358T>C (p.Val453Ala)
c.1370T>C (p.Val457Ala)
1g.16996118A>TCA637214ATP13A2c.1400T>A (p.Val467Glu)
c.1385T>A (p.Val462Glu)
n.1008T>A
n.428T>A
c.77T>A (p.Val26Glu)
c.542T>A (p.Val181Glu)
n.488T>A
c.428T>A (p.Val143Glu)
c.1397T>A (p.Val466Glu)
c.1373T>A (p.Val458Glu)
c.1382T>A (p.Val461Glu)
c.1358T>A (p.Val453Glu)
c.1370T>A (p.Val457Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996118_16996119delinsACCA1156030692ATP13A2c.1399_1400delinsGT (p.Val467=)
c.1384_1385delinsGT (p.Val462=)
n.1007_1008delinsGT
n.427_428delinsGT
c.76_77delinsGT (p.Val26=)
c.541_542delinsGT (p.Val181=)
n.487_488delinsGT
c.427_428delinsGT (p.Val143=)
c.1396_1397delinsGT (p.Val466=)
c.1372_1373delinsGT (p.Val458=)
c.1381_1382delinsGT (p.Val461=)
c.1357_1358delinsGT (p.Val453=)
c.1369_1370delinsGT (p.Val457=)
1g.16996119delCA18636947ATP13A2c.1399del (p.Val467TrpfsTer11)
c.1384del (p.Val462TrpfsTer11)
n.1007del
n.427del
c.76del (p.Val26TrpfsTer11)
c.541del (p.Val181TrpfsTer?)
n.487del
c.427del (p.Val143TrpfsTer11)
c.1396del (p.Val466TrpfsTer11)
c.1372del (p.Val458TrpfsTer11)
c.1381del (p.Val461TrpfsTer11)
c.1357del (p.Val453TrpfsTer11)
c.1369del (p.Val457TrpfsTer11)
 dbSNP
1g.16996119C>ACA338252706ATP13A2c.1399G>T (p.Val467Leu)
c.1384G>T (p.Val462Leu)
n.1007G>T
n.427G>T
c.76G>T (p.Val26Leu)
c.541G>T (p.Val181Leu)
n.487G>T
c.427G>T (p.Val143Leu)
c.1396G>T (p.Val466Leu)
c.1372G>T (p.Val458Leu)
c.1381G>T (p.Val461Leu)
c.1357G>T (p.Val453Leu)
c.1369G>T (p.Val457Leu)
1g.16996119C=CA1143707673ATP13A2c.1399G= (p.Val467=)
c.1384G= (p.Val462=)
n.1007G=
n.427G=
c.76G= (p.Val26=)
c.541G= (p.Val181=)
n.487G=
c.427G= (p.Val143=)
c.1396G= (p.Val466=)
c.1372G= (p.Val458=)
c.1381G= (p.Val461=)
c.1357G= (p.Val453=)
c.1369G= (p.Val457=)
1g.16996119C>GCA338252709ATP13A2c.1399G>C (p.Val467Leu)
c.1384G>C (p.Val462Leu)
n.1007G>C
n.427G>C
c.76G>C (p.Val26Leu)
c.541G>C (p.Val181Leu)
n.487G>C
c.427G>C (p.Val143Leu)
c.1396G>C (p.Val466Leu)
c.1372G>C (p.Val458Leu)
c.1381G>C (p.Val461Leu)
c.1357G>C (p.Val453Leu)
c.1369G>C (p.Val457Leu)
1g.16996119C>TCA637215ATP13A2c.1399G>A (p.Val467Met)
c.1384G>A (p.Val462Met)
n.1007G>A
n.427G>A
c.76G>A (p.Val26Met)
c.541G>A (p.Val181Met)
n.487G>A
c.427G>A (p.Val143Met)
c.1396G>A (p.Val466Met)
c.1372G>A (p.Val458Met)
c.1381G>A (p.Val461Met)
c.1357G>A (p.Val453Met)
c.1369G>A (p.Val457Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996120G>ACA637216ATP13A2c.1398C>T (p.Thr466=)
c.1383C>T (p.Thr461=)
n.1006C>T
n.426C>T
c.75C>T (p.Thr25=)
c.540C>T (p.Thr180=)
n.486C>T
c.426C>T (p.Thr142=)
c.1395C>T (p.Thr465=)
c.1371C>T (p.Thr457=)
c.1380C>T (p.Thr460=)
c.1356C>T (p.Thr452=)
c.1368C>T (p.Thr456=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996120G>CCA416094524ATP13A2c.1398C>G (p.Thr466=)
c.1383C>G (p.Thr461=)
n.1006C>G
n.426C>G
c.75C>G (p.Thr25=)
c.540C>G (p.Thr180=)
n.486C>G
c.426C>G (p.Thr142=)
c.1395C>G (p.Thr465=)
c.1371C>G (p.Thr457=)
c.1380C>G (p.Thr460=)
c.1356C>G (p.Thr452=)
c.1368C>G (p.Thr456=)
 dbSNP gnomAD v2 gnomAD v4
1g.16996120G=CA1156030711ATP13A2c.1398C= (p.Thr466=)
c.1383C= (p.Thr461=)
n.1006C=
n.426C=
c.75C= (p.Thr25=)
c.540C= (p.Thr180=)
n.486C=
c.426C= (p.Thr142=)
c.1395C= (p.Thr465=)
c.1371C= (p.Thr457=)
c.1380C= (p.Thr460=)
c.1356C= (p.Thr452=)
c.1368C= (p.Thr456=)
1g.16996120G>TCA416094525ATP13A2c.1398C>A (p.Thr466=)
c.1383C>A (p.Thr461=)
n.1006C>A
n.426C>A
c.75C>A (p.Thr25=)
c.540C>A (p.Thr180=)
n.486C>A
c.426C>A (p.Thr142=)
c.1395C>A (p.Thr465=)
c.1371C>A (p.Thr457=)
c.1380C>A (p.Thr460=)
c.1356C>A (p.Thr452=)
c.1368C>A (p.Thr456=)
1g.16996121G>ACA338252716ATP13A2c.1397C>T (p.Thr466Ile)
c.1382C>T (p.Thr461Ile)
n.1005C>T
n.425C>T
c.74C>T (p.Thr25Ile)
c.539C>T (p.Thr180Ile)
n.485C>T
c.425C>T (p.Thr142Ile)
c.1394C>T (p.Thr465Ile)
c.1370C>T (p.Thr457Ile)
c.1379C>T (p.Thr460Ile)
c.1355C>T (p.Thr452Ile)
c.1367C>T (p.Thr456Ile)
 gnomAD v4
1g.16996121G>CCA338252719ATP13A2c.1397C>G (p.Thr466Ser)
c.1382C>G (p.Thr461Ser)
n.1005C>G
n.425C>G
c.74C>G (p.Thr25Ser)
c.539C>G (p.Thr180Ser)
n.485C>G
c.425C>G (p.Thr142Ser)
c.1394C>G (p.Thr465Ser)
c.1370C>G (p.Thr457Ser)
c.1379C>G (p.Thr460Ser)
c.1355C>G (p.Thr452Ser)
c.1367C>G (p.Thr456Ser)
1g.16996121G>TCA338252718ATP13A2c.1397C>A (p.Thr466Asn)
c.1382C>A (p.Thr461Asn)
n.1005C>A
n.425C>A
c.74C>A (p.Thr25Asn)
c.539C>A (p.Thr180Asn)
n.485C>A
c.425C>A (p.Thr142Asn)
c.1394C>A (p.Thr465Asn)
c.1370C>A (p.Thr457Asn)
c.1379C>A (p.Thr460Asn)
c.1355C>A (p.Thr452Asn)
c.1367C>A (p.Thr456Asn)
1g.16996122T>ACA338252720ATP13A2c.1396A>T (p.Thr466Ser)
c.1381A>T (p.Thr461Ser)
n.1004A>T
n.424A>T
c.73A>T (p.Thr25Ser)
c.538A>T (p.Thr180Ser)
n.484A>T
c.424A>T (p.Thr142Ser)
c.1393A>T (p.Thr465Ser)
c.1369A>T (p.Thr457Ser)
c.1378A>T (p.Thr460Ser)
c.1354A>T (p.Thr452Ser)
c.1366A>T (p.Thr456Ser)
1g.16996122T>CCA338252726ATP13A2c.1396A>G (p.Thr466Ala)
c.1381A>G (p.Thr461Ala)
n.1004A>G
n.424A>G
c.73A>G (p.Thr25Ala)
c.538A>G (p.Thr180Ala)
n.484A>G
c.424A>G (p.Thr142Ala)
c.1393A>G (p.Thr465Ala)
c.1369A>G (p.Thr457Ala)
c.1378A>G (p.Thr460Ala)
c.1354A>G (p.Thr452Ala)
c.1366A>G (p.Thr456Ala)
1g.16996122T>GCA338252723ATP13A2c.1396A>C (p.Thr466Pro)
c.1381A>C (p.Thr461Pro)
n.1004A>C
n.424A>C
c.73A>C (p.Thr25Pro)
c.538A>C (p.Thr180Pro)
n.484A>C
c.424A>C (p.Thr142Pro)
c.1393A>C (p.Thr465Pro)
c.1369A>C (p.Thr457Pro)
c.1378A>C (p.Thr460Pro)
c.1354A>C (p.Thr452Pro)
c.1366A>C (p.Thr456Pro)
1g.16996123C>ACA416094528ATP13A2c.1395G>T (p.Val465=)
c.1380G>T (p.Val460=)
n.1003G>T
n.423G>T
c.72G>T (p.Val24=)
c.537G>T (p.Val179=)
n.483G>T
c.423G>T (p.Val141=)
c.1392G>T (p.Val464=)
c.1368G>T (p.Val456=)
c.1377G>T (p.Val459=)
c.1353G>T (p.Val451=)
c.1365G>T (p.Val455=)
1g.16996123C=CA1156030720ATP13A2c.1395G= (p.Val465=)
c.1380G= (p.Val460=)
n.1003G=
n.423G=
c.72G= (p.Val24=)
c.537G= (p.Val179=)
n.483G=
c.423G= (p.Val141=)
c.1392G= (p.Val464=)
c.1368G= (p.Val456=)
c.1377G= (p.Val459=)
c.1353G= (p.Val451=)
c.1365G= (p.Val455=)
1g.16996123C>GCA416094527ATP13A2c.1395G>C (p.Val465=)
c.1380G>C (p.Val460=)
n.1003G>C
n.423G>C
c.72G>C (p.Val24=)
c.537G>C (p.Val179=)
n.483G>C
c.423G>C (p.Val141=)
c.1392G>C (p.Val464=)
c.1368G>C (p.Val456=)
c.1377G>C (p.Val459=)
c.1353G>C (p.Val451=)
c.1365G>C (p.Val455=)
1g.16996123C>TCA416094526ATP13A2c.1395G>A (p.Val465=)
c.1380G>A (p.Val460=)
n.1003G>A
n.423G>A
c.72G>A (p.Val24=)
c.537G>A (p.Val179=)
n.483G>A
c.423G>A (p.Val141=)
c.1392G>A (p.Val464=)
c.1368G>A (p.Val456=)
c.1377G>A (p.Val459=)
c.1353G>A (p.Val451=)
c.1365G>A (p.Val455=)
 dbSNP gnomAD v2 gnomAD v4
1g.16996124A>CCA338252728ATP13A2c.1394T>G (p.Val465Gly)
c.1379T>G (p.Val460Gly)
n.1002T>G
n.422T>G
c.71T>G (p.Val24Gly)
c.536T>G (p.Val179Gly)
n.482T>G
c.422T>G (p.Val141Gly)
c.1391T>G (p.Val464Gly)
c.1367T>G (p.Val456Gly)
c.1376T>G (p.Val459Gly)
c.1352T>G (p.Val451Gly)
c.1364T>G (p.Val455Gly)
1g.16996124A>GCA338252732ATP13A2c.1394T>C (p.Val465Ala)
c.1379T>C (p.Val460Ala)
n.1002T>C
n.422T>C
c.71T>C (p.Val24Ala)
c.536T>C (p.Val179Ala)
n.482T>C
c.422T>C (p.Val141Ala)
c.1391T>C (p.Val464Ala)
c.1367T>C (p.Val456Ala)
c.1376T>C (p.Val459Ala)
c.1352T>C (p.Val451Ala)
c.1364T>C (p.Val455Ala)
1g.16996124A>TCA338252729ATP13A2c.1394T>A (p.Val465Glu)
c.1379T>A (p.Val460Glu)
n.1002T>A
n.422T>A
c.71T>A (p.Val24Glu)
c.536T>A (p.Val179Glu)
n.482T>A
c.422T>A (p.Val141Glu)
c.1391T>A (p.Val464Glu)
c.1367T>A (p.Val456Glu)
c.1376T>A (p.Val459Glu)
c.1352T>A (p.Val451Glu)
c.1364T>A (p.Val455Glu)
1g.16996125C>ACA338252739ATP13A2c.1393G>T (p.Val465Leu)
c.1378G>T (p.Val460Leu)
n.1001G>T
n.421G>T
c.70G>T (p.Val24Leu)
c.535G>T (p.Val179Leu)
n.481G>T
c.421G>T (p.Val141Leu)
c.1390G>T (p.Val464Leu)
c.1366G>T (p.Val456Leu)
c.1375G>T (p.Val459Leu)
c.1351G>T (p.Val451Leu)
c.1363G>T (p.Val455Leu)
1g.16996125C>GCA338252744ATP13A2c.1393G>C (p.Val465Leu)
c.1378G>C (p.Val460Leu)
n.1001G>C
n.421G>C
c.70G>C (p.Val24Leu)
c.535G>C (p.Val179Leu)
n.481G>C
c.421G>C (p.Val141Leu)
c.1390G>C (p.Val464Leu)
c.1366G>C (p.Val456Leu)
c.1375G>C (p.Val459Leu)
c.1351G>C (p.Val451Leu)
c.1363G>C (p.Val455Leu)
1g.16996125C>TCA338252748ATP13A2c.1393G>A (p.Val465Met)
c.1378G>A (p.Val460Met)
n.1001G>A
n.421G>A
c.70G>A (p.Val24Met)
c.535G>A (p.Val179Met)
n.481G>A
c.421G>A (p.Val141Met)
c.1390G>A (p.Val464Met)
c.1366G>A (p.Val456Met)
c.1375G>A (p.Val459Met)
c.1351G>A (p.Val451Met)
c.1363G>A (p.Val455Met)
1g.16996126C>ACA416094529ATP13A2c.1392G>T (p.Leu464=)
c.1377G>T (p.Leu459=)
n.1000G>T
n.420G>T
c.69G>T (p.Leu23=)
c.534G>T (p.Leu178=)
n.480G>T
c.420G>T (p.Leu140=)
c.1389G>T (p.Leu463=)
c.1365G>T (p.Leu455=)
c.1374G>T (p.Leu458=)
c.1350G>T (p.Leu450=)
c.1362G>T (p.Leu454=)
1g.16996126C>GCA416094530ATP13A2c.1392G>C (p.Leu464=)
c.1377G>C (p.Leu459=)
n.1000G>C
n.420G>C
c.69G>C (p.Leu23=)
c.534G>C (p.Leu178=)
n.480G>C
c.420G>C (p.Leu140=)
c.1389G>C (p.Leu463=)
c.1365G>C (p.Leu455=)
c.1374G>C (p.Leu458=)
c.1350G>C (p.Leu450=)
c.1362G>C (p.Leu454=)
1g.16996126C>TCA416094531ATP13A2c.1392G>A (p.Leu464=)
c.1377G>A (p.Leu459=)
n.1000G>A
n.420G>A
c.69G>A (p.Leu23=)
c.534G>A (p.Leu178=)
n.480G>A
c.420G>A (p.Leu140=)
c.1389G>A (p.Leu463=)
c.1365G>A (p.Leu455=)
c.1374G>A (p.Leu458=)
c.1350G>A (p.Leu450=)
c.1362G>A (p.Leu454=)
1g.16996127A>CCA338252751ATP13A2c.1391T>G (p.Leu464Arg)
c.1376T>G (p.Leu459Arg)
n.999T>G
n.419T>G
c.68T>G (p.Leu23Arg)
c.533T>G (p.Leu178Arg)
n.479T>G
c.419T>G (p.Leu140Arg)
c.1388T>G (p.Leu463Arg)
c.1364T>G (p.Leu455Arg)
c.1373T>G (p.Leu458Arg)
c.1349T>G (p.Leu450Arg)
c.1361T>G (p.Leu454Arg)
1g.16996127A>GCA338252753ATP13A2c.1391T>C (p.Leu464Pro)
c.1376T>C (p.Leu459Pro)
n.999T>C
n.419T>C
c.68T>C (p.Leu23Pro)
c.533T>C (p.Leu178Pro)
n.479T>C
c.419T>C (p.Leu140Pro)
c.1388T>C (p.Leu463Pro)
c.1364T>C (p.Leu455Pro)
c.1373T>C (p.Leu458Pro)
c.1349T>C (p.Leu450Pro)
c.1361T>C (p.Leu454Pro)
1g.16996127A>TCA338252754ATP13A2c.1391T>A (p.Leu464Gln)
c.1376T>A (p.Leu459Gln)
n.999T>A
n.419T>A
c.68T>A (p.Leu23Gln)
c.533T>A (p.Leu178Gln)
n.479T>A
c.419T>A (p.Leu140Gln)
c.1388T>A (p.Leu463Gln)
c.1364T>A (p.Leu455Gln)
c.1373T>A (p.Leu458Gln)
c.1349T>A (p.Leu450Gln)
c.1361T>A (p.Leu454Gln)
1g.16996128G>ACA416094532ATP13A2c.1390C>T (p.Leu464=)
c.1375C>T (p.Leu459=)
n.998C>T
n.418C>T
c.67C>T (p.Leu23=)
c.532C>T (p.Leu178=)
n.478C>T
c.418C>T (p.Leu140=)
c.1387C>T (p.Leu463=)
c.1363C>T (p.Leu455=)
c.1372C>T (p.Leu458=)
c.1348C>T (p.Leu450=)
c.1360C>T (p.Leu454=)
 gnomAD v4
1g.16996128G>CCA338252760ATP13A2c.1390C>G (p.Leu464Val)
c.1375C>G (p.Leu459Val)
n.998C>G
n.418C>G
c.67C>G (p.Leu23Val)
c.532C>G (p.Leu178Val)
n.478C>G
c.418C>G (p.Leu140Val)
c.1387C>G (p.Leu463Val)
c.1363C>G (p.Leu455Val)
c.1372C>G (p.Leu458Val)
c.1348C>G (p.Leu450Val)
c.1360C>G (p.Leu454Val)
1g.16996128G>TCA338252765ATP13A2c.1390C>A (p.Leu464Met)
c.1375C>A (p.Leu459Met)
n.998C>A
n.418C>A
c.67C>A (p.Leu23Met)
c.532C>A (p.Leu178Met)
n.478C>A
c.418C>A (p.Leu140Met)
c.1387C>A (p.Leu463Met)
c.1363C>A (p.Leu455Met)
c.1372C>A (p.Leu458Met)
c.1348C>A (p.Leu450Met)
c.1360C>A (p.Leu454Met)
1g.16996129G>ACA416094534ATP13A2c.1389C>T (p.Asp463=)
c.1374C>T (p.Asp458=)
n.997C>T
n.417C>T
c.66C>T (p.Asp22=)
c.531C>T (p.Asp177=)
n.477C>T
c.417C>T (p.Asp139=)
c.1386C>T (p.Asp462=)
c.1362C>T (p.Asp454=)
c.1371C>T (p.Asp457=)
c.1347C>T (p.Asp449=)
c.1359C>T (p.Asp453=)
 gnomAD v4
1g.16996129G>CCA338252767ATP13A2c.1389C>G (p.Asp463Glu)
c.1374C>G (p.Asp458Glu)
n.997C>G
n.417C>G
c.66C>G (p.Asp22Glu)
c.531C>G (p.Asp177Glu)
n.477C>G
c.417C>G (p.Asp139Glu)
c.1386C>G (p.Asp462Glu)
c.1362C>G (p.Asp454Glu)
c.1371C>G (p.Asp457Glu)
c.1347C>G (p.Asp449Glu)
c.1359C>G (p.Asp453Glu)
1g.16996129G>TCA338252769ATP13A2c.1389C>A (p.Asp463Glu)
c.1374C>A (p.Asp458Glu)
n.997C>A
n.417C>A
c.66C>A (p.Asp22Glu)
c.531C>A (p.Asp177Glu)
n.477C>A
c.417C>A (p.Asp139Glu)
c.1386C>A (p.Asp462Glu)
c.1362C>A (p.Asp454Glu)
c.1371C>A (p.Asp457Glu)
c.1347C>A (p.Asp449Glu)
c.1359C>A (p.Asp453Glu)
1g.16996130T>ACA338252782ATP13A2c.1388A>T (p.Asp463Val)
c.1373A>T (p.Asp458Val)
n.996A>T
n.416A>T
c.65A>T (p.Asp22Val)
c.530A>T (p.Asp177Val)
n.476A>T
c.416A>T (p.Asp139Val)
c.1385A>T (p.Asp462Val)
c.1361A>T (p.Asp454Val)
c.1370A>T (p.Asp457Val)
c.1346A>T (p.Asp449Val)
c.1358A>T (p.Asp453Val)
1g.16996130T>CCA338252774ATP13A2c.1388A>G (p.Asp463Gly)
c.1373A>G (p.Asp458Gly)
n.996A>G
n.416A>G
c.65A>G (p.Asp22Gly)
c.530A>G (p.Asp177Gly)
n.476A>G
c.416A>G (p.Asp139Gly)
c.1385A>G (p.Asp462Gly)
c.1361A>G (p.Asp454Gly)
c.1370A>G (p.Asp457Gly)
c.1346A>G (p.Asp449Gly)
c.1358A>G (p.Asp453Gly)
 gnomAD v4
1g.16996130T>GCA338252781ATP13A2c.1388A>C (p.Asp463Ala)
c.1373A>C (p.Asp458Ala)
n.996A>C
n.416A>C
c.65A>C (p.Asp22Ala)
c.530A>C (p.Asp177Ala)
n.476A>C
c.416A>C (p.Asp139Ala)
c.1385A>C (p.Asp462Ala)
c.1361A>C (p.Asp454Ala)
c.1370A>C (p.Asp457Ala)
c.1346A>C (p.Asp449Ala)
c.1358A>C (p.Asp453Ala)
1g.16996131C>ACA338252783ATP13A2c.1387G>T (p.Asp463Tyr)
c.1372G>T (p.Asp458Tyr)
n.995G>T
n.415G>T
c.64G>T (p.Asp22Tyr)
c.529G>T (p.Asp177Tyr)
n.475G>T
c.415G>T (p.Asp139Tyr)
c.1384G>T (p.Asp462Tyr)
c.1360G>T (p.Asp454Tyr)
c.1369G>T (p.Asp457Tyr)
c.1345G>T (p.Asp449Tyr)
c.1357G>T (p.Asp453Tyr)
1g.16996131C=CA1156030734ATP13A2c.1387G= (p.Asp463=)
c.1372G= (p.Asp458=)
n.995G=
n.415G=
c.64G= (p.Asp22=)
c.529G= (p.Asp177=)
n.475G=
c.415G= (p.Asp139=)
c.1384G= (p.Asp462=)
c.1360G= (p.Asp454=)
c.1369G= (p.Asp457=)
c.1345G= (p.Asp449=)
c.1357G= (p.Asp453=)
1g.16996131C>GCA637217ATP13A2c.1387G>C (p.Asp463His)
c.1372G>C (p.Asp458His)
n.995G>C
n.415G>C
c.64G>C (p.Asp22His)
c.529G>C (p.Asp177His)
n.475G>C
c.415G>C (p.Asp139His)
c.1384G>C (p.Asp462His)
c.1360G>C (p.Asp454His)
c.1369G>C (p.Asp457His)
c.1345G>C (p.Asp449His)
c.1357G>C (p.Asp453His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996131C>TCA637218ATP13A2c.1387G>A (p.Asp463Asn)
c.1372G>A (p.Asp458Asn)
n.995G>A
n.415G>A
c.64G>A (p.Asp22Asn)
c.529G>A (p.Asp177Asn)
n.475G>A
c.415G>A (p.Asp139Asn)
c.1384G>A (p.Asp462Asn)
c.1360G>A (p.Asp454Asn)
c.1369G>A (p.Asp457Asn)
c.1345G>A (p.Asp449Asn)
c.1357G>A (p.Asp453Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996132G>ACA637219ATP13A2c.1386C>T (p.Leu462=)
c.1371C>T (p.Leu457=)
n.994C>T
n.414C>T
c.63C>T (p.Leu21=)
c.528C>T (p.Leu176=)
n.474C>T
c.414C>T (p.Leu138=)
c.1383C>T (p.Leu461=)
c.1359C>T (p.Leu453=)
c.1368C>T (p.Leu456=)
c.1344C>T (p.Leu448=)
c.1356C>T (p.Leu452=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996132G>CCA416094537ATP13A2c.1386C>G (p.Leu462=)
c.1371C>G (p.Leu457=)
n.994C>G
n.414C>G
c.63C>G (p.Leu21=)
c.528C>G (p.Leu176=)
n.474C>G
c.414C>G (p.Leu138=)
c.1383C>G (p.Leu461=)
c.1359C>G (p.Leu453=)
c.1368C>G (p.Leu456=)
c.1344C>G (p.Leu448=)
c.1356C>G (p.Leu452=)
1g.16996132G=CA1156030744ATP13A2c.1386C= (p.Leu462=)
c.1371C= (p.Leu457=)
n.994C=
n.414C=
c.63C= (p.Leu21=)
c.528C= (p.Leu176=)
n.474C=
c.414C= (p.Leu138=)
c.1383C= (p.Leu461=)
c.1359C= (p.Leu453=)
c.1368C= (p.Leu456=)
c.1344C= (p.Leu448=)
c.1356C= (p.Leu452=)
1g.16996132G>TCA416094536ATP13A2c.1386C>A (p.Leu462=)
c.1371C>A (p.Leu457=)
n.994C>A
n.414C>A
c.63C>A (p.Leu21=)
c.528C>A (p.Leu176=)
n.474C>A
c.414C>A (p.Leu138=)
c.1383C>A (p.Leu461=)
c.1359C>A (p.Leu453=)
c.1368C>A (p.Leu456=)
c.1344C>A (p.Leu448=)
c.1356C>A (p.Leu452=)
1g.16996133A>CCA338252787ATP13A2c.1385T>G (p.Leu462Arg)
c.1370T>G (p.Leu457Arg)
n.993T>G
n.413T>G
c.62T>G (p.Leu21Arg)
c.527T>G (p.Leu176Arg)
n.473T>G
c.413T>G (p.Leu138Arg)
c.1382T>G (p.Leu461Arg)
c.1358T>G (p.Leu453Arg)
c.1367T>G (p.Leu456Arg)
c.1343T>G (p.Leu448Arg)
c.1355T>G (p.Leu452Arg)
1g.16996133A>GCA338252788ATP13A2c.1385T>C (p.Leu462Pro)
c.1370T>C (p.Leu457Pro)
n.993T>C
n.413T>C
c.62T>C (p.Leu21Pro)
c.527T>C (p.Leu176Pro)
n.473T>C
c.413T>C (p.Leu138Pro)
c.1382T>C (p.Leu461Pro)
c.1358T>C (p.Leu453Pro)
c.1367T>C (p.Leu456Pro)
c.1343T>C (p.Leu448Pro)
c.1355T>C (p.Leu452Pro)
1g.16996133A>TCA338252790ATP13A2c.1385T>A (p.Leu462His)
c.1370T>A (p.Leu457His)
n.993T>A
n.413T>A
c.62T>A (p.Leu21His)
c.527T>A (p.Leu176His)
n.473T>A
c.413T>A (p.Leu138His)
c.1382T>A (p.Leu461His)
c.1358T>A (p.Leu453His)
c.1367T>A (p.Leu456His)
c.1343T>A (p.Leu448His)
c.1355T>A (p.Leu452His)
1g.16996134G>ACA18637014ATP13A2c.1384C>T (p.Leu462Phe)
c.1369C>T (p.Leu457Phe)
n.992C>T
n.412C>T
c.61C>T (p.Leu21Phe)
c.526C>T (p.Leu176Phe)
n.472C>T
c.412C>T (p.Leu138Phe)
c.1381C>T (p.Leu461Phe)
c.1357C>T (p.Leu453Phe)
c.1366C>T (p.Leu456Phe)
c.1342C>T (p.Leu448Phe)
c.1354C>T (p.Leu452Phe)
 dbSNP
1g.16996134G>CCA637220ATP13A2c.1384C>G (p.Leu462Val)
c.1369C>G (p.Leu457Val)
n.992C>G
n.412C>G
c.61C>G (p.Leu21Val)
c.526C>G (p.Leu176Val)
n.472C>G
c.412C>G (p.Leu138Val)
c.1381C>G (p.Leu461Val)
c.1357C>G (p.Leu453Val)
c.1366C>G (p.Leu456Val)
c.1342C>G (p.Leu448Val)
c.1354C>G (p.Leu452Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996134G=CA1156030754ATP13A2c.1384C= (p.Leu462=)
c.1369C= (p.Leu457=)
n.992C=
n.412C=
c.61C= (p.Leu21=)
c.526C= (p.Leu176=)
n.472C=
c.412C= (p.Leu138=)
c.1381C= (p.Leu461=)
c.1357C= (p.Leu453=)
c.1366C= (p.Leu456=)
c.1342C= (p.Leu448=)
c.1354C= (p.Leu452=)
1g.16996134G>TCA338252799ATP13A2c.1384C>A (p.Leu462Ile)
c.1369C>A (p.Leu457Ile)
n.992C>A
n.412C>A
c.61C>A (p.Leu21Ile)
c.526C>A (p.Leu176Ile)
n.472C>A
c.412C>A (p.Leu138Ile)
c.1381C>A (p.Leu461Ile)
c.1357C>A (p.Leu453Ile)
c.1366C>A (p.Leu456Ile)
c.1342C>A (p.Leu448Ile)
c.1354C>A (p.Leu452Ile)
 gnomAD v4
1g.16996135A>CCA416094540ATP13A2c.1383T>G (p.Ala461=)
c.1368T>G (p.Ala456=)
n.991T>G
n.411T>G
c.60T>G (p.Ala20=)
c.525T>G (p.Ala175=)
n.471T>G
c.411T>G (p.Ala137=)
c.1380T>G (p.Ala460=)
c.1356T>G (p.Ala452=)
c.1365T>G (p.Ala455=)
c.1341T>G (p.Ala447=)
c.1353T>G (p.Ala451=)
1g.16996135A>GCA416094538ATP13A2c.1383T>C (p.Ala461=)
c.1368T>C (p.Ala456=)
n.991T>C
n.411T>C
c.60T>C (p.Ala20=)
c.525T>C (p.Ala175=)
n.471T>C
c.411T>C (p.Ala137=)
c.1380T>C (p.Ala460=)
c.1356T>C (p.Ala452=)
c.1365T>C (p.Ala455=)
c.1341T>C (p.Ala447=)
c.1353T>C (p.Ala451=)
1g.16996135A>TCA416094539ATP13A2c.1383T>A (p.Ala461=)
c.1368T>A (p.Ala456=)
n.991T>A
n.411T>A
c.60T>A (p.Ala20=)
c.525T>A (p.Ala175=)
n.471T>A
c.411T>A (p.Ala137=)
c.1380T>A (p.Ala460=)
c.1356T>A (p.Ala452=)
c.1365T>A (p.Ala455=)
c.1341T>A (p.Ala447=)
c.1353T>A (p.Ala451=)
1g.16996136delCA2574234438ATP13A2c.1382del (p.Ala461ValfsTer5)
c.1367del (p.Ala456ValfsTer5)
n.990del
n.410del
c.59del (p.Ala20ValfsTer5)
c.524del (p.Ala175ValfsTer5)
n.470del
c.410del (p.Ala137ValfsTer5)
c.1379del (p.Ala460ValfsTer5)
c.1355del (p.Ala452ValfsTer5)
c.1364del (p.Ala455ValfsTer5)
c.1340del (p.Ala447ValfsTer5)
c.1352del (p.Ala451ValfsTer5)
1g.16996136G>ACA637221ATP13A2c.1382C>T (p.Ala461Val)
c.1367C>T (p.Ala456Val)
n.990C>T
n.410C>T
c.59C>T (p.Ala20Val)
c.524C>T (p.Ala175Val)
n.470C>T
c.410C>T (p.Ala137Val)
c.1379C>T (p.Ala460Val)
c.1355C>T (p.Ala452Val)
c.1364C>T (p.Ala455Val)
c.1340C>T (p.Ala447Val)
c.1352C>T (p.Ala451Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996136G>CCA338252804ATP13A2c.1382C>G (p.Ala461Gly)
c.1367C>G (p.Ala456Gly)
n.990C>G
n.410C>G
c.59C>G (p.Ala20Gly)
c.524C>G (p.Ala175Gly)
n.470C>G
c.410C>G (p.Ala137Gly)
c.1379C>G (p.Ala460Gly)
c.1355C>G (p.Ala452Gly)
c.1364C>G (p.Ala455Gly)
c.1340C>G (p.Ala447Gly)
c.1352C>G (p.Ala451Gly)
1g.16996136G=CA1156030759ATP13A2c.1382C= (p.Ala461=)
c.1367C= (p.Ala456=)
n.990C=
n.410C=
c.59C= (p.Ala20=)
c.524C= (p.Ala175=)
n.470C=
c.410C= (p.Ala137=)
c.1379C= (p.Ala460=)
c.1355C= (p.Ala452=)
c.1364C= (p.Ala455=)
c.1340C= (p.Ala447=)
c.1352C= (p.Ala451=)
1g.16996136G>TCA338252802ATP13A2c.1382C>A (p.Ala461Asp)
c.1367C>A (p.Ala456Asp)
n.990C>A
n.410C>A
c.59C>A (p.Ala20Asp)
c.524C>A (p.Ala175Asp)
n.470C>A
c.410C>A (p.Ala137Asp)
c.1379C>A (p.Ala460Asp)
c.1355C>A (p.Ala452Asp)
c.1364C>A (p.Ala455Asp)
c.1340C>A (p.Ala447Asp)
c.1352C>A (p.Ala451Asp)
1g.16996137C>ACA338252805ATP13A2c.1381G>T (p.Ala461Ser)
c.1366G>T (p.Ala456Ser)
n.989G>T
n.409G>T
c.58G>T (p.Ala20Ser)
c.523G>T (p.Ala175Ser)
n.469G>T
c.409G>T (p.Ala137Ser)
c.1378G>T (p.Ala460Ser)
c.1354G>T (p.Ala452Ser)
c.1363G>T (p.Ala455Ser)
c.1339G>T (p.Ala447Ser)
c.1351G>T (p.Ala451Ser)
1g.16996137C=CA1156030765ATP13A2c.1381G= (p.Ala461=)
c.1366G= (p.Ala456=)
n.989G=
n.409G=
c.58G= (p.Ala20=)
c.523G= (p.Ala175=)
n.469G=
c.409G= (p.Ala137=)
c.1378G= (p.Ala460=)
c.1354G= (p.Ala452=)
c.1363G= (p.Ala455=)
c.1339G= (p.Ala447=)
c.1351G= (p.Ala451=)
1g.16996137C>GCA338252807ATP13A2c.1381G>C (p.Ala461Pro)
c.1366G>C (p.Ala456Pro)
n.989G>C
n.409G>C
c.58G>C (p.Ala20Pro)
c.523G>C (p.Ala175Pro)
n.469G>C
c.409G>C (p.Ala137Pro)
c.1378G>C (p.Ala460Pro)
c.1354G>C (p.Ala452Pro)
c.1363G>C (p.Ala455Pro)
c.1339G>C (p.Ala447Pro)
c.1351G>C (p.Ala451Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.16996137C>TCA637222ATP13A2c.1381G>A (p.Ala461Thr)
c.1366G>A (p.Ala456Thr)
n.989G>A
n.409G>A
c.58G>A (p.Ala20Thr)
c.523G>A (p.Ala175Thr)
n.469G>A
c.409G>A (p.Ala137Thr)
c.1378G>A (p.Ala460Thr)
c.1354G>A (p.Ala452Thr)
c.1363G>A (p.Ala455Thr)
c.1339G>A (p.Ala447Thr)
c.1351G>A (p.Ala451Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996138C>ACA416094542ATP13A2c.1380G>T (p.Arg460=)
c.1365G>T (p.Arg455=)
n.988G>T
n.408G>T
c.57G>T (p.Arg19=)
c.522G>T (p.Arg174=)
n.468G>T
c.408G>T (p.Arg136=)
c.1377G>T (p.Arg459=)
c.1353G>T (p.Arg451=)
c.1362G>T (p.Arg454=)
c.1338G>T (p.Arg446=)
c.1350G>T (p.Arg450=)
1g.16996138C=CA1156030767ATP13A2c.1380G= (p.Arg460=)
c.1365G= (p.Arg455=)
n.988G=
n.408G=
c.57G= (p.Arg19=)
c.522G= (p.Arg174=)
n.468G=
c.408G= (p.Arg136=)
c.1377G= (p.Arg459=)
c.1353G= (p.Arg451=)
c.1362G= (p.Arg454=)
c.1338G= (p.Arg446=)
c.1350G= (p.Arg450=)
1g.16996138C>GCA416094543ATP13A2c.1380G>C (p.Arg460=)
c.1365G>C (p.Arg455=)
n.988G>C
n.408G>C
c.57G>C (p.Arg19=)
c.522G>C (p.Arg174=)
n.468G>C
c.408G>C (p.Arg136=)
c.1377G>C (p.Arg459=)
c.1353G>C (p.Arg451=)
c.1362G>C (p.Arg454=)
c.1338G>C (p.Arg446=)
c.1350G>C (p.Arg450=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.16996138C>TCA416094541ATP13A2c.1380G>A (p.Arg460=)
c.1365G>A (p.Arg455=)
n.988G>A
n.408G>A
c.57G>A (p.Arg19=)
c.522G>A (p.Arg174=)
n.468G>A
c.408G>A (p.Arg136=)
c.1377G>A (p.Arg459=)
c.1353G>A (p.Arg451=)
c.1362G>A (p.Arg454=)
c.1338G>A (p.Arg446=)
c.1350G>A (p.Arg450=)
1g.16996139C>ACA338252815ATP13A2c.1379G>T (p.Arg460Leu)
c.1364G>T (p.Arg455Leu)
n.987G>T
n.407G>T
c.56G>T (p.Arg19Leu)
c.521G>T (p.Arg174Leu)
n.467G>T
c.407G>T (p.Arg136Leu)
c.1376G>T (p.Arg459Leu)
c.1352G>T (p.Arg451Leu)
c.1361G>T (p.Arg454Leu)
c.1337G>T (p.Arg446Leu)
c.1349G>T (p.Arg450Leu)
1g.16996139C=CA1142365898ATP13A2c.1379G= (p.Arg460=)
c.1364G= (p.Arg455=)
n.987G=
n.407G=
c.56G= (p.Arg19=)
c.521G= (p.Arg174=)
n.467G=
c.407G= (p.Arg136=)
c.1376G= (p.Arg459=)
c.1352G= (p.Arg451=)
c.1361G= (p.Arg454=)
c.1337G= (p.Arg446=)
c.1349G= (p.Arg450=)
1g.16996139C>GCA338252825ATP13A2c.1379G>C (p.Arg460Pro)
c.1364G>C (p.Arg455Pro)
n.987G>C
n.407G>C
c.56G>C (p.Arg19Pro)
c.521G>C (p.Arg174Pro)
n.467G>C
c.407G>C (p.Arg136Pro)
c.1376G>C (p.Arg459Pro)
c.1352G>C (p.Arg451Pro)
c.1361G>C (p.Arg454Pro)
c.1337G>C (p.Arg446Pro)
c.1349G>C (p.Arg450Pro)
1g.16996139C>TCA637223ATP13A2c.1379G>A (p.Arg460Gln)
c.1364G>A (p.Arg455Gln)
n.987G>A
n.407G>A
c.56G>A (p.Arg19Gln)
c.521G>A (p.Arg174Gln)
n.467G>A
c.407G>A (p.Arg136Gln)
c.1376G>A (p.Arg459Gln)
c.1352G>A (p.Arg451Gln)
c.1361G>A (p.Arg454Gln)
c.1337G>A (p.Arg446Gln)
c.1349G>A (p.Arg450Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996140G>ACA637224ATP13A2c.1378C>T (p.Arg460Trp)
c.1363C>T (p.Arg455Trp)
n.986C>T
n.406C>T
c.55C>T (p.Arg19Trp)
c.520C>T (p.Arg174Trp)
n.466C>T
c.406C>T (p.Arg136Trp)
c.1375C>T (p.Arg459Trp)
c.1351C>T (p.Arg451Trp)
c.1360C>T (p.Arg454Trp)
c.1336C>T (p.Arg446Trp)
c.1348C>T (p.Arg450Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996140G>CCA338252829ATP13A2c.1378C>G (p.Arg460Gly)
c.1363C>G (p.Arg455Gly)
n.986C>G
n.406C>G
c.55C>G (p.Arg19Gly)
c.520C>G (p.Arg174Gly)
n.466C>G
c.406C>G (p.Arg136Gly)
c.1375C>G (p.Arg459Gly)
c.1351C>G (p.Arg451Gly)
c.1360C>G (p.Arg454Gly)
c.1336C>G (p.Arg446Gly)
c.1348C>G (p.Arg450Gly)
1g.16996140G=CA1143795645ATP13A2c.1378C= (p.Arg460=)
c.1363C= (p.Arg455=)
n.986C=
n.406C=
c.55C= (p.Arg19=)
c.520C= (p.Arg174=)
n.466C=
c.406C= (p.Arg136=)
c.1375C= (p.Arg459=)
c.1351C= (p.Arg451=)
c.1360C= (p.Arg454=)
c.1336C= (p.Arg446=)
c.1348C= (p.Arg450=)
1g.16996140G>TCA416094544ATP13A2c.1378C>A (p.Arg460=)
c.1363C>A (p.Arg455=)
n.986C>A
n.406C>A
c.55C>A (p.Arg19=)
c.520C>A (p.Arg174=)
n.466C>A
c.406C>A (p.Arg136=)
c.1375C>A (p.Arg459=)
c.1351C>A (p.Arg451=)
c.1360C>A (p.Arg454=)
c.1336C>A (p.Arg446=)
c.1348C>A (p.Arg450=)
1g.16996141delCA2580060620ATP13A2c.1378del (p.Arg460GlyfsTer6)
c.1363del (p.Arg455GlyfsTer6)
n.986del
n.406del
c.55del (p.Arg19GlyfsTer6)
c.520del (p.Arg174GlyfsTer6)
n.466del
c.406del (p.Arg136GlyfsTer6)
c.1375del (p.Arg459GlyfsTer6)
c.1351del (p.Arg451GlyfsTer6)
c.1360del (p.Arg454GlyfsTer6)
c.1336del (p.Arg446GlyfsTer6)
c.1348del (p.Arg450GlyfsTer6)
 ClinVar
1g.16996141G>ACA416094545ATP13A2c.1377C>T (p.Ile459=)
c.1362C>T (p.Ile454=)
n.985C>T
n.405C>T
c.54C>T (p.Ile18=)
c.519C>T (p.Ile173=)
n.465C>T
c.405C>T (p.Ile135=)
c.1374C>T (p.Ile458=)
c.1350C>T (p.Ile450=)
c.1359C>T (p.Ile453=)
c.1335C>T (p.Ile445=)
c.1347C>T (p.Ile449=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.16996141G>CCA338252830ATP13A2c.1377C>G (p.Ile459Met)
c.1362C>G (p.Ile454Met)
n.985C>G
n.405C>G
c.54C>G (p.Ile18Met)
c.519C>G (p.Ile173Met)
n.465C>G
c.405C>G (p.Ile135Met)
c.1374C>G (p.Ile458Met)
c.1350C>G (p.Ile450Met)
c.1359C>G (p.Ile453Met)
c.1335C>G (p.Ile445Met)
c.1347C>G (p.Ile449Met)
1g.16996141G=CA1156030774ATP13A2c.1377C= (p.Ile459=)
c.1362C= (p.Ile454=)
n.985C=
n.405C=
c.54C= (p.Ile18=)
c.519C= (p.Ile173=)
n.465C=
c.405C= (p.Ile135=)
c.1374C= (p.Ile458=)
c.1350C= (p.Ile450=)
c.1359C= (p.Ile453=)
c.1335C= (p.Ile445=)
c.1347C= (p.Ile449=)
1g.16996141G>TCA416094547ATP13A2c.1377C>A (p.Ile459=)
c.1362C>A (p.Ile454=)
n.985C>A
n.405C>A
c.54C>A (p.Ile18=)
c.519C>A (p.Ile173=)
n.465C>A
c.405C>A (p.Ile135=)
c.1374C>A (p.Ile458=)
c.1350C>A (p.Ile450=)
c.1359C>A (p.Ile453=)
c.1335C>A (p.Ile445=)
c.1347C>A (p.Ile449=)
1g.16996142A>CCA338252831ATP13A2c.1376T>G (p.Ile459Ser)
c.1361T>G (p.Ile454Ser)
n.984T>G
n.404T>G
c.53T>G (p.Ile18Ser)
c.518T>G (p.Ile173Ser)
n.464T>G
c.404T>G (p.Ile135Ser)
c.1373T>G (p.Ile458Ser)
c.1349T>G (p.Ile450Ser)
c.1358T>G (p.Ile453Ser)
c.1334T>G (p.Ile445Ser)
c.1346T>G (p.Ile449Ser)
1g.16996142A>GCA338252833ATP13A2c.1376T>C (p.Ile459Thr)
c.1361T>C (p.Ile454Thr)
n.984T>C
n.404T>C
c.53T>C (p.Ile18Thr)
c.518T>C (p.Ile173Thr)
n.464T>C
c.404T>C (p.Ile135Thr)
c.1373T>C (p.Ile458Thr)
c.1349T>C (p.Ile450Thr)
c.1358T>C (p.Ile453Thr)
c.1334T>C (p.Ile445Thr)
c.1346T>C (p.Ile449Thr)
 dbSNP gnomAD v4
1g.16996142A>TCA338252836ATP13A2c.1376T>A (p.Ile459Asn)
c.1361T>A (p.Ile454Asn)
n.984T>A
n.404T>A
c.53T>A (p.Ile18Asn)
c.518T>A (p.Ile173Asn)
n.464T>A
c.404T>A (p.Ile135Asn)
c.1373T>A (p.Ile458Asn)
c.1349T>A (p.Ile450Asn)
c.1358T>A (p.Ile453Asn)
c.1334T>A (p.Ile445Asn)
c.1346T>A (p.Ile449Asn)
1g.16996143T>ACA338252847ATP13A2c.1375A>T (p.Ile459Phe)
c.1360A>T (p.Ile454Phe)
n.983A>T
n.403A>T
c.52A>T (p.Ile18Phe)
c.517A>T (p.Ile173Phe)
n.463A>T
c.403A>T (p.Ile135Phe)
c.1372A>T (p.Ile458Phe)
c.1348A>T (p.Ile450Phe)
c.1357A>T (p.Ile453Phe)
c.1333A>T (p.Ile445Phe)
c.1345A>T (p.Ile449Phe)
1g.16996143T>CCA338252839ATP13A2c.1375A>G (p.Ile459Val)
c.1360A>G (p.Ile454Val)
n.983A>G
n.403A>G
c.52A>G (p.Ile18Val)
c.517A>G (p.Ile173Val)
n.463A>G
c.403A>G (p.Ile135Val)
c.1372A>G (p.Ile458Val)
c.1348A>G (p.Ile450Val)
c.1357A>G (p.Ile453Val)
c.1333A>G (p.Ile445Val)
c.1345A>G (p.Ile449Val)
1g.16996143T>GCA338252842ATP13A2c.1375A>C (p.Ile459Leu)
c.1360A>C (p.Ile454Leu)
n.983A>C
n.403A>C
c.52A>C (p.Ile18Leu)
c.517A>C (p.Ile173Leu)
n.463A>C
c.403A>C (p.Ile135Leu)
c.1372A>C (p.Ile458Leu)
c.1348A>C (p.Ile450Leu)
c.1357A>C (p.Ile453Leu)
c.1333A>C (p.Ile445Leu)
c.1345A>C (p.Ile449Leu)
1g.16996144T>ACA416094548ATP13A2c.1374A>T (p.Val458=)
c.1359A>T (p.Val453=)
n.982A>T
n.402A>T
c.51A>T (p.Val17=)
c.516A>T (p.Val172=)
n.462A>T
c.402A>T (p.Val134=)
c.1371A>T (p.Val457=)
c.1347A>T (p.Val449=)
c.1356A>T (p.Val452=)
c.1332A>T (p.Val444=)
c.1344A>T (p.Val448=)
1g.16996144T>CCA416094549ATP13A2c.1374A>G (p.Val458=)
c.1359A>G (p.Val453=)
n.982A>G
n.402A>G
c.51A>G (p.Val17=)
c.516A>G (p.Val172=)
n.462A>G
c.402A>G (p.Val134=)
c.1371A>G (p.Val457=)
c.1347A>G (p.Val449=)
c.1356A>G (p.Val452=)
c.1332A>G (p.Val444=)
c.1344A>G (p.Val448=)
 dbSNP
1g.16996144T>GCA416094550ATP13A2c.1374A>C (p.Val458=)
c.1359A>C (p.Val453=)
n.982A>C
n.402A>C
c.51A>C (p.Val17=)
c.516A>C (p.Val172=)
n.462A>C
c.402A>C (p.Val134=)
c.1371A>C (p.Val457=)
c.1347A>C (p.Val449=)
c.1356A>C (p.Val452=)
c.1332A>C (p.Val444=)
c.1344A>C (p.Val448=)
1g.16996145A>CCA338252852ATP13A2c.1373T>G (p.Val458Gly)
c.1358T>G (p.Val453Gly)
n.981T>G
n.401T>G
c.50T>G (p.Val17Gly)
c.515T>G (p.Val172Gly)
n.461T>G
c.401T>G (p.Val134Gly)
c.1370T>G (p.Val457Gly)
c.1346T>G (p.Val449Gly)
c.1355T>G (p.Val452Gly)
c.1331T>G (p.Val444Gly)
c.1343T>G (p.Val448Gly)
1g.16996145A>GCA338252855ATP13A2c.1373T>C (p.Val458Ala)
c.1358T>C (p.Val453Ala)
n.981T>C
n.401T>C
c.50T>C (p.Val17Ala)
c.515T>C (p.Val172Ala)
n.461T>C
c.401T>C (p.Val134Ala)
c.1370T>C (p.Val457Ala)
c.1346T>C (p.Val449Ala)
c.1355T>C (p.Val452Ala)
c.1331T>C (p.Val444Ala)
c.1343T>C (p.Val448Ala)
1g.16996145A>TCA338252857ATP13A2c.1373T>A (p.Val458Glu)
c.1358T>A (p.Val453Glu)
n.981T>A
n.401T>A
c.50T>A (p.Val17Glu)
c.515T>A (p.Val172Glu)
n.461T>A
c.401T>A (p.Val134Glu)
c.1370T>A (p.Val457Glu)
c.1346T>A (p.Val449Glu)
c.1355T>A (p.Val452Glu)
c.1331T>A (p.Val444Glu)
c.1343T>A (p.Val448Glu)
 gnomAD v4
1g.16996146C>ACA338252865ATP13A2c.1372G>T (p.Val458Leu)
c.1357G>T (p.Val453Leu)
n.980G>T
n.400G>T
c.49G>T (p.Val17Leu)
c.514G>T (p.Val172Leu)
n.460G>T
c.400G>T (p.Val134Leu)
c.1369G>T (p.Val457Leu)
c.1345G>T (p.Val449Leu)
c.1354G>T (p.Val452Leu)
c.1330G>T (p.Val444Leu)
c.1342G>T (p.Val448Leu)
1g.16996146C=CA1156030781ATP13A2c.1372G= (p.Val458=)
c.1357G= (p.Val453=)
n.980G=
n.400G=
c.49G= (p.Val17=)
c.514G= (p.Val172=)
n.460G=
c.400G= (p.Val134=)
c.1369G= (p.Val457=)
c.1345G= (p.Val449=)
c.1354G= (p.Val452=)
c.1330G= (p.Val444=)
c.1342G= (p.Val448=)
1g.16996146C>GCA338252866ATP13A2c.1372G>C (p.Val458Leu)
c.1357G>C (p.Val453Leu)
n.980G>C
n.400G>C
c.49G>C (p.Val17Leu)
c.514G>C (p.Val172Leu)
n.460G>C
c.400G>C (p.Val134Leu)
c.1369G>C (p.Val457Leu)
c.1345G>C (p.Val449Leu)
c.1354G>C (p.Val452Leu)
c.1330G>C (p.Val444Leu)
c.1342G>C (p.Val448Leu)
1g.16996146C>TCA338252867ATP13A2c.1372G>A (p.Val458Ile)
c.1357G>A (p.Val453Ile)
n.980G>A
n.400G>A
c.49G>A (p.Val17Ile)
c.514G>A (p.Val172Ile)
n.460G>A
c.400G>A (p.Val134Ile)
c.1369G>A (p.Val457Ile)
c.1345G>A (p.Val449Ile)
c.1354G>A (p.Val452Ile)
c.1330G>A (p.Val444Ile)
c.1342G>A (p.Val448Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.16996147A=CA1156030787ATP13A2c.1371T= (p.Ile457=)
c.1356T= (p.Ile452=)
n.979T=
n.399T=
c.48T= (p.Ile16=)
c.513T= (p.Ile171=)
n.459T=
c.399T= (p.Ile133=)
c.1368T= (p.Ile456=)
c.1344T= (p.Ile448=)
c.1353T= (p.Ile451=)
c.1329T= (p.Ile443=)
c.1341T= (p.Ile447=)
1g.16996147A>CCA637225ATP13A2c.1371T>G (p.Ile457Met)
c.1356T>G (p.Ile452Met)
n.979T>G
n.399T>G
c.48T>G (p.Ile16Met)
c.513T>G (p.Ile171Met)
n.459T>G
c.399T>G (p.Ile133Met)
c.1368T>G (p.Ile456Met)
c.1344T>G (p.Ile448Met)
c.1353T>G (p.Ile451Met)
c.1329T>G (p.Ile443Met)
c.1341T>G (p.Ile447Met)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.16996147A>GCA416094554ATP13A2c.1371T>C (p.Ile457=)
c.1356T>C (p.Ile452=)
n.979T>C
n.399T>C
c.48T>C (p.Ile16=)
c.513T>C (p.Ile171=)
n.459T>C
c.399T>C (p.Ile133=)
c.1368T>C (p.Ile456=)
c.1344T>C (p.Ile448=)
c.1353T>C (p.Ile451=)
c.1329T>C (p.Ile443=)
c.1341T>C (p.Ile447=)
1g.16996147A>TCA416094555ATP13A2c.1371T>A (p.Ile457=)
c.1356T>A (p.Ile452=)
n.979T>A
n.399T>A
c.48T>A (p.Ile16=)
c.513T>A (p.Ile171=)
n.459T>A
c.399T>A (p.Ile133=)
c.1368T>A (p.Ile456=)
c.1344T>A (p.Ile448=)
c.1353T>A (p.Ile451=)
c.1329T>A (p.Ile443=)
c.1341T>A (p.Ile447=)
1g.16996148A>CCA338252869ATP13A2c.1370T>G (p.Ile457Ser)
c.1355T>G (p.Ile452Ser)
n.978T>G
n.398T>G
c.47T>G (p.Ile16Ser)
c.512T>G (p.Ile171Ser)
n.458T>G
c.398T>G (p.Ile133Ser)
c.1367T>G (p.Ile456Ser)
c.1343T>G (p.Ile448Ser)
c.1352T>G (p.Ile451Ser)
c.1328T>G (p.Ile443Ser)
c.1340T>G (p.Ile447Ser)
1g.16996148A>GCA338252870ATP13A2c.1370T>C (p.Ile457Thr)
c.1355T>C (p.Ile452Thr)
n.978T>C
n.398T>C
c.47T>C (p.Ile16Thr)
c.512T>C (p.Ile171Thr)
n.458T>C
c.398T>C (p.Ile133Thr)
c.1367T>C (p.Ile456Thr)
c.1343T>C (p.Ile448Thr)
c.1352T>C (p.Ile451Thr)
c.1328T>C (p.Ile443Thr)
c.1340T>C (p.Ile447Thr)
1g.16996148A>TCA338252873ATP13A2c.1370T>A (p.Ile457Asn)
c.1355T>A (p.Ile452Asn)
n.978T>A
n.398T>A
c.47T>A (p.Ile16Asn)
c.512T>A (p.Ile171Asn)
n.458T>A
c.398T>A (p.Ile133Asn)
c.1367T>A (p.Ile456Asn)
c.1343T>A (p.Ile448Asn)
c.1352T>A (p.Ile451Asn)
c.1328T>A (p.Ile443Asn)
c.1340T>A (p.Ile447Asn)
1g.16996149T>ACA338252875ATP13A2c.1369A>T (p.Ile457Phe)
c.1354A>T (p.Ile452Phe)
n.977A>T
n.397A>T
c.46A>T (p.Ile16Phe)
c.511A>T (p.Ile171Phe)
n.457A>T
c.397A>T (p.Ile133Phe)
c.1366A>T (p.Ile456Phe)
c.1342A>T (p.Ile448Phe)
c.1351A>T (p.Ile451Phe)
c.1327A>T (p.Ile443Phe)
c.1339A>T (p.Ile447Phe)
1g.16996149T>CCA338252877ATP13A2c.1369A>G (p.Ile457Val)
c.1354A>G (p.Ile452Val)
n.977A>G
n.397A>G
c.46A>G (p.Ile16Val)
c.511A>G (p.Ile171Val)
n.457A>G
c.397A>G (p.Ile133Val)
c.1366A>G (p.Ile456Val)
c.1342A>G (p.Ile448Val)
c.1351A>G (p.Ile451Val)
c.1327A>G (p.Ile443Val)
c.1339A>G (p.Ile447Val)
1g.16996149T>GCA338252888ATP13A2c.1369A>C (p.Ile457Leu)
c.1354A>C (p.Ile452Leu)
n.977A>C
n.397A>C
c.46A>C (p.Ile16Leu)
c.511A>C (p.Ile171Leu)
n.457A>C
c.397A>C (p.Ile133Leu)
c.1366A>C (p.Ile456Leu)
c.1342A>C (p.Ile448Leu)
c.1351A>C (p.Ile451Leu)
c.1327A>C (p.Ile443Leu)
c.1339A>C (p.Ile447Leu)
1g.16996150C>ACA338252906ATP13A2c.1368G>T (p.Glu456Asp)
c.1353G>T (p.Glu451Asp)
n.976G>T
n.396G>T
c.45G>T (p.Glu15Asp)
c.510G>T (p.Glu170Asp)
n.456G>T
c.396G>T (p.Glu132Asp)
c.1365G>T (p.Glu455Asp)
c.1341G>T (p.Glu447Asp)
c.1350G>T (p.Glu450Asp)
c.1326G>T (p.Glu442Asp)
c.1338G>T (p.Glu446Asp)
1g.16996150C=CA1156030795ATP13A2c.1368G= (p.Glu456=)
c.1353G= (p.Glu451=)
n.976G=
n.396G=
c.45G= (p.Glu15=)
c.510G= (p.Glu170=)
n.456G=
c.396G= (p.Glu132=)
c.1365G= (p.Glu455=)
c.1341G= (p.Glu447=)
c.1350G= (p.Glu450=)
c.1326G= (p.Glu442=)
c.1338G= (p.Glu446=)
1g.16996150C>GCA338252890ATP13A2c.1368G>C (p.Glu456Asp)
c.1353G>C (p.Glu451Asp)
n.976G>C
n.396G>C
c.45G>C (p.Glu15Asp)
c.510G>C (p.Glu170Asp)
n.456G>C
c.396G>C (p.Glu132Asp)
c.1365G>C (p.Glu455Asp)
c.1341G>C (p.Glu447Asp)
c.1350G>C (p.Glu450Asp)
c.1326G>C (p.Glu442Asp)
c.1338G>C (p.Glu446Asp)
1g.16996150C>TCA416094561ATP13A2c.1368G>A (p.Glu456=)
c.1353G>A (p.Glu451=)
n.976G>A
n.396G>A
c.45G>A (p.Glu15=)
c.510G>A (p.Glu170=)
n.456G>A
c.396G>A (p.Glu132=)
c.1365G>A (p.Glu455=)
c.1341G>A (p.Glu447=)
c.1350G>A (p.Glu450=)
c.1326G>A (p.Glu442=)
c.1338G>A (p.Glu446=)
 dbSNP gnomAD v3 gnomAD v4
1g.16996151T>ACA338252910ATP13A2c.1367A>T (p.Glu456Val)
c.1352A>T (p.Glu451Val)
n.975A>T
n.395A>T
c.44A>T (p.Glu15Val)
c.509A>T (p.Glu170Val)
n.455A>T
c.395A>T (p.Glu132Val)
c.1364A>T (p.Glu455Val)
c.1340A>T (p.Glu447Val)
c.1349A>T (p.Glu450Val)
c.1325A>T (p.Glu442Val)
c.1337A>T (p.Glu446Val)
1g.16996151T>CCA338252915ATP13A2c.1367A>G (p.Glu456Gly)
c.1352A>G (p.Glu451Gly)
n.975A>G
n.395A>G
c.44A>G (p.Glu15Gly)
c.509A>G (p.Glu170Gly)
n.455A>G
c.395A>G (p.Glu132Gly)
c.1364A>G (p.Glu455Gly)
c.1340A>G (p.Glu447Gly)
c.1349A>G (p.Glu450Gly)
c.1325A>G (p.Glu442Gly)
c.1337A>G (p.Glu446Gly)
 gnomAD v4
1g.16996151T>GCA338252912ATP13A2c.1367A>C (p.Glu456Ala)
c.1352A>C (p.Glu451Ala)
n.975A>C
n.395A>C
c.44A>C (p.Glu15Ala)
c.509A>C (p.Glu170Ala)
n.455A>C
c.395A>C (p.Glu132Ala)
c.1364A>C (p.Glu455Ala)
c.1340A>C (p.Glu447Ala)
c.1349A>C (p.Glu450Ala)
c.1325A>C (p.Glu442Ala)
c.1337A>C (p.Glu446Ala)
1g.16996152C>ACA338252916ATP13A2c.1366G>T (p.Glu456Ter)
c.1351G>T (p.Glu451Ter)
n.974G>T
n.394G>T
c.43G>T (p.Glu15Ter)
c.508G>T (p.Glu170Ter)
n.454G>T
c.394G>T (p.Glu132Ter)
c.1363G>T (p.Glu455Ter)
c.1339G>T (p.Glu447Ter)
c.1348G>T (p.Glu450Ter)
c.1324G>T (p.Glu442Ter)
c.1336G>T (p.Glu446Ter)
1g.16996152C>GCA338252917ATP13A2c.1366G>C (p.Glu456Gln)
c.1351G>C (p.Glu451Gln)
n.974G>C
n.394G>C
c.43G>C (p.Glu15Gln)
c.508G>C (p.Glu170Gln)
n.454G>C
c.394G>C (p.Glu132Gln)
c.1363G>C (p.Glu455Gln)
c.1339G>C (p.Glu447Gln)
c.1348G>C (p.Glu450Gln)
c.1324G>C (p.Glu442Gln)
c.1336G>C (p.Glu446Gln)
1g.16996152C>TCA338252919ATP13A2c.1366G>A (p.Glu456Lys)
c.1351G>A (p.Glu451Lys)
n.974G>A
n.394G>A
c.43G>A (p.Glu15Lys)
c.508G>A (p.Glu170Lys)
n.454G>A
c.394G>A (p.Glu132Lys)
c.1363G>A (p.Glu455Lys)
c.1339G>A (p.Glu447Lys)
c.1348G>A (p.Glu450Lys)
c.1324G>A (p.Glu442Lys)
c.1336G>A (p.Glu446Lys)
1g.16996153A=CA1140474559ATP13A2c.1365T= (p.Asn455=)
c.1350T= (p.Asn450=)
n.973T=
n.393T=
c.42T= (p.Asn14=)
c.507T= (p.Asn169=)
n.453T=
c.393T= (p.Asn131=)
c.1362T= (p.Asn454=)
c.1338T= (p.Asn446=)
c.1347T= (p.Asn449=)
c.1323T= (p.Asn441=)
c.1335T= (p.Asn445=)
1g.16996153A>CCA338252922ATP13A2c.1365T>G (p.Asn455Lys)
c.1350T>G (p.Asn450Lys)
n.973T>G
n.393T>G
c.42T>G (p.Asn14Lys)
c.507T>G (p.Asn169Lys)
n.453T>G
c.393T>G (p.Asn131Lys)
c.1362T>G (p.Asn454Lys)
c.1338T>G (p.Asn446Lys)
c.1347T>G (p.Asn449Lys)
c.1323T>G (p.Asn441Lys)
c.1335T>G (p.Asn445Lys)
 gnomAD v4
1g.16996153A>GCA18637028ATP13A2c.1365T>C (p.Asn455=)
c.1350T>C (p.Asn450=)
n.973T>C
n.393T>C
c.42T>C (p.Asn14=)
c.507T>C (p.Asn169=)
n.453T>C
c.393T>C (p.Asn131=)
c.1362T>C (p.Asn454=)
c.1338T>C (p.Asn446=)
c.1347T>C (p.Asn449=)
c.1323T>C (p.Asn441=)
c.1335T>C (p.Asn445=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16996153A>TCA338252924ATP13A2c.1365T>A (p.Asn455Lys)
c.1350T>A (p.Asn450Lys)
n.973T>A
n.393T>A
c.42T>A (p.Asn14Lys)
c.507T>A (p.Asn169Lys)
n.453T>A
c.393T>A (p.Asn131Lys)
c.1362T>A (p.Asn454Lys)
c.1338T>A (p.Asn446Lys)
c.1347T>A (p.Asn449Lys)
c.1323T>A (p.Asn441Lys)
c.1335T>A (p.Asn445Lys)
1g.16996154T>ACA338252925ATP13A2c.1364A>T (p.Asn455Ile)
c.1349A>T (p.Asn450Ile)
n.972A>T
n.392A>T
c.41A>T (p.Asn14Ile)
c.506A>T (p.Asn169Ile)
n.452A>T
c.392A>T (p.Asn131Ile)
c.1361A>T (p.Asn454Ile)
c.1337A>T (p.Asn446Ile)
c.1346A>T (p.Asn449Ile)
c.1322A>T (p.Asn441Ile)
c.1334A>T (p.Asn445Ile)
1g.16996154T>CCA338252926ATP13A2c.1364A>G (p.Asn455Ser)
c.1349A>G (p.Asn450Ser)
n.972A>G
n.392A>G
c.41A>G (p.Asn14Ser)
c.506A>G (p.Asn169Ser)
n.452A>G
c.392A>G (p.Asn131Ser)
c.1361A>G (p.Asn454Ser)
c.1337A>G (p.Asn446Ser)
c.1346A>G (p.Asn449Ser)
c.1322A>G (p.Asn441Ser)
c.1334A>G (p.Asn445Ser)
1g.16996154T>GCA338252927ATP13A2c.1364A>C (p.Asn455Thr)
c.1349A>C (p.Asn450Thr)
n.972A>C
n.392A>C
c.41A>C (p.Asn14Thr)
c.506A>C (p.Asn169Thr)
n.452A>C
c.392A>C (p.Asn131Thr)
c.1361A>C (p.Asn454Thr)
c.1337A>C (p.Asn446Thr)
c.1346A>C (p.Asn449Thr)
c.1322A>C (p.Asn441Thr)
c.1334A>C (p.Asn445Thr)
1g.16996155T>ACA338252928ATP13A2c.1363A>T (p.Asn455Tyr)
c.1348A>T (p.Asn450Tyr)
n.971A>T
n.391A>T
c.40A>T (p.Asn14Tyr)
c.505A>T (p.Asn169Tyr)
n.451A>T
c.391A>T (p.Asn131Tyr)
c.1360A>T (p.Asn454Tyr)
c.1336A>T (p.Asn446Tyr)
c.1345A>T (p.Asn449Tyr)
c.1321A>T (p.Asn441Tyr)
c.1333A>T (p.Asn445Tyr)
1g.16996155T>CCA338252929ATP13A2c.1363A>G (p.Asn455Asp)
c.1348A>G (p.Asn450Asp)
n.971A>G
n.391A>G
c.40A>G (p.Asn14Asp)
c.505A>G (p.Asn169Asp)
n.451A>G
c.391A>G (p.Asn131Asp)
c.1360A>G (p.Asn454Asp)
c.1336A>G (p.Asn446Asp)
c.1345A>G (p.Asn449Asp)
c.1321A>G (p.Asn441Asp)
c.1333A>G (p.Asn445Asp)
1g.16996155T>GCA338252930ATP13A2c.1363A>C (p.Asn455His)
c.1348A>C (p.Asn450His)
n.971A>C
n.391A>C
c.40A>C (p.Asn14His)
c.505A>C (p.Asn169His)
n.451A>C
c.391A>C (p.Asn131His)
c.1360A>C (p.Asn454His)
c.1336A>C (p.Asn446His)
c.1345A>C (p.Asn449His)
c.1321A>C (p.Asn441His)
c.1333A>C (p.Asn445His)
1g.16996156C>ACA416094569ATP13A2c.1362G>T (p.Leu454=)
c.1347G>T (p.Leu449=)
n.970G>T
n.390G>T
c.39G>T (p.Leu13=)
c.504G>T (p.Leu168=)
n.450G>T
c.390G>T (p.Leu130=)
c.1359G>T (p.Leu453=)
c.1335G>T (p.Leu445=)
c.1344G>T (p.Leu448=)
c.1320G>T (p.Leu440=)
c.1332G>T (p.Leu444=)
1g.16996156C>GCA416094571ATP13A2c.1362G>C (p.Leu454=)
c.1347G>C (p.Leu449=)
n.970G>C
n.390G>C
c.39G>C (p.Leu13=)
c.504G>C (p.Leu168=)
n.450G>C
c.390G>C (p.Leu130=)
c.1359G>C (p.Leu453=)
c.1335G>C (p.Leu445=)
c.1344G>C (p.Leu448=)
c.1320G>C (p.Leu440=)
c.1332G>C (p.Leu444=)
1g.16996156C>TCA416094572ATP13A2c.1362G>A (p.Leu454=)
c.1347G>A (p.Leu449=)
n.970G>A
n.390G>A
c.39G>A (p.Leu13=)
c.504G>A (p.Leu168=)
n.450G>A
c.390G>A (p.Leu130=)
c.1359G>A (p.Leu453=)
c.1335G>A (p.Leu445=)
c.1344G>A (p.Leu448=)
c.1320G>A (p.Leu440=)
c.1332G>A (p.Leu444=)
1g.16996157A>CCA338252936ATP13A2c.1361T>G (p.Leu454Arg)
c.1346T>G (p.Leu449Arg)
n.969T>G
n.389T>G
c.38T>G (p.Leu13Arg)
c.503T>G (p.Leu168Arg)
n.449T>G
c.389T>G (p.Leu130Arg)
c.1358T>G (p.Leu453Arg)
c.1334T>G (p.Leu445Arg)
c.1343T>G (p.Leu448Arg)
c.1319T>G (p.Leu440Arg)
c.1331T>G (p.Leu444Arg)
1g.16996157A>GCA338252932ATP13A2c.1361T>C (p.Leu454Pro)
c.1346T>C (p.Leu449Pro)
n.969T>C
n.389T>C
c.38T>C (p.Leu13Pro)
c.503T>C (p.Leu168Pro)
n.449T>C
c.389T>C (p.Leu130Pro)
c.1358T>C (p.Leu453Pro)
c.1334T>C (p.Leu445Pro)
c.1343T>C (p.Leu448Pro)
c.1319T>C (p.Leu440Pro)
c.1331T>C (p.Leu444Pro)
1g.16996157A>TCA338252934ATP13A2c.1361T>A (p.Leu454Gln)
c.1346T>A (p.Leu449Gln)
n.969T>A
n.389T>A
c.38T>A (p.Leu13Gln)
c.503T>A (p.Leu168Gln)
n.449T>A
c.389T>A (p.Leu130Gln)
c.1358T>A (p.Leu453Gln)
c.1334T>A (p.Leu445Gln)
c.1343T>A (p.Leu448Gln)
c.1319T>A (p.Leu440Gln)
c.1331T>A (p.Leu444Gln)
1g.16996158G>ACA416094574ATP13A2c.1360C>T (p.Leu454=)
c.1345C>T (p.Leu449=)
n.968C>T
n.388C>T
c.37C>T (p.Leu13=)
c.502C>T (p.Leu168=)
n.448C>T
c.388C>T (p.Leu130=)
c.1357C>T (p.Leu453=)
c.1333C>T (p.Leu445=)
c.1342C>T (p.Leu448=)
c.1318C>T (p.Leu440=)
c.1330C>T (p.Leu444=)
1g.16996158G>CCA338252939ATP13A2c.1360C>G (p.Leu454Val)
c.1345C>G (p.Leu449Val)
n.968C>G
n.388C>G
c.37C>G (p.Leu13Val)
c.502C>G (p.Leu168Val)
n.448C>G
c.388C>G (p.Leu130Val)
c.1357C>G (p.Leu453Val)
c.1333C>G (p.Leu445Val)
c.1342C>G (p.Leu448Val)
c.1318C>G (p.Leu440Val)
c.1330C>G (p.Leu444Val)
 ClinVar dbSNP
1g.16996158G>TCA338252942ATP13A2c.1360C>A (p.Leu454Met)
c.1345C>A (p.Leu449Met)
n.968C>A
n.388C>A
c.37C>A (p.Leu13Met)
c.502C>A (p.Leu168Met)
n.448C>A
c.388C>A (p.Leu130Met)
c.1357C>A (p.Leu453Met)
c.1333C>A (p.Leu445Met)
c.1342C>A (p.Leu448Met)
c.1318C>A (p.Leu440Met)
c.1330C>A (p.Leu444Met)
1g.16996159A>CCA416094575ATP13A2c.1359T>G (p.Pro453=)
c.1344T>G (p.Pro448=)
n.967T>G
n.387T>G
c.36T>G (p.Pro12=)
c.501T>G (p.Pro167=)
n.447T>G
c.387T>G (p.Pro129=)
c.1356T>G (p.Pro452=)
c.1332T>G (p.Pro444=)
c.1341T>G (p.Pro447=)
c.1317T>G (p.Pro439=)
c.1329T>G (p.Pro443=)
1g.16996159A>GCA416094576ATP13A2c.1359T>C (p.Pro453=)
c.1344T>C (p.Pro448=)
n.967T>C
n.387T>C
c.36T>C (p.Pro12=)
c.501T>C (p.Pro167=)
n.447T>C
c.387T>C (p.Pro129=)
c.1356T>C (p.Pro452=)
c.1332T>C (p.Pro444=)
c.1341T>C (p.Pro447=)
c.1317T>C (p.Pro439=)
c.1329T>C (p.Pro443=)
1g.16996159A>TCA416094577ATP13A2c.1359T>A (p.Pro453=)
c.1344T>A (p.Pro448=)
n.967T>A
n.387T>A
c.36T>A (p.Pro12=)
c.501T>A (p.Pro167=)
n.447T>A
c.387T>A (p.Pro129=)
c.1356T>A (p.Pro452=)
c.1332T>A (p.Pro444=)
c.1341T>A (p.Pro447=)
c.1317T>A (p.Pro439=)
c.1329T>A (p.Pro443=)
1g.16996160G>ACA338252950ATP13A2c.1358C>T (p.Pro453Leu)
c.1343C>T (p.Pro448Leu)
n.966C>T
n.386C>T
c.35C>T (p.Pro12Leu)
c.500C>T (p.Pro167Leu)
n.446C>T
c.386C>T (p.Pro129Leu)
c.1355C>T (p.Pro452Leu)
c.1331C>T (p.Pro444Leu)
c.1340C>T (p.Pro447Leu)
c.1316C>T (p.Pro439Leu)
c.1328C>T (p.Pro443Leu)
1g.16996160G>CCA338252952ATP13A2c.1358C>G (p.Pro453Arg)
c.1343C>G (p.Pro448Arg)
n.966C>G
n.386C>G
c.35C>G (p.Pro12Arg)
c.500C>G (p.Pro167Arg)
n.446C>G
c.386C>G (p.Pro129Arg)
c.1355C>G (p.Pro452Arg)
c.1331C>G (p.Pro444Arg)
c.1340C>G (p.Pro447Arg)
c.1316C>G (p.Pro439Arg)
c.1328C>G (p.Pro443Arg)
1g.16996160G>TCA338252956ATP13A2c.1358C>A (p.Pro453His)
c.1343C>A (p.Pro448His)
n.966C>A
n.386C>A
c.35C>A (p.Pro12His)
c.500C>A (p.Pro167His)
n.446C>A
c.386C>A (p.Pro129His)
c.1355C>A (p.Pro452His)
c.1331C>A (p.Pro444His)
c.1340C>A (p.Pro447His)
c.1316C>A (p.Pro439His)
c.1328C>A (p.Pro443His)
1g.16996161G>ACA338252960ATP13A2c.1357C>T (p.Pro453Ser)
c.1342C>T (p.Pro448Ser)
n.965C>T
n.385C>T
c.34C>T (p.Pro12Ser)
c.499C>T (p.Pro167Ser)
n.445C>T
c.385C>T (p.Pro129Ser)
c.1354C>T (p.Pro452Ser)
c.1330C>T (p.Pro444Ser)
c.1339C>T (p.Pro447Ser)
c.1315C>T (p.Pro439Ser)
c.1327C>T (p.Pro443Ser)
 gnomAD v4
1g.16996161G>CCA338252962ATP13A2c.1357C>G (p.Pro453Ala)
c.1342C>G (p.Pro448Ala)
n.965C>G
n.385C>G
c.34C>G (p.Pro12Ala)
c.499C>G (p.Pro167Ala)
n.445C>G
c.385C>G (p.Pro129Ala)
c.1354C>G (p.Pro452Ala)
c.1330C>G (p.Pro444Ala)
c.1339C>G (p.Pro447Ala)
c.1315C>G (p.Pro439Ala)
c.1327C>G (p.Pro443Ala)
1g.16996161G>TCA338252963ATP13A2c.1357C>A (p.Pro453Thr)
c.1342C>A (p.Pro448Thr)
n.965C>A
n.385C>A
c.34C>A (p.Pro12Thr)
c.499C>A (p.Pro167Thr)
n.445C>A
c.385C>A (p.Pro129Thr)
c.1354C>A (p.Pro452Thr)
c.1330C>A (p.Pro444Thr)
c.1339C>A (p.Pro447Thr)
c.1315C>A (p.Pro439Thr)
c.1327C>A (p.Pro443Thr)
1g.16996162C>ACA416094582ATP13A2c.1356G>T (p.Val452=)
c.1341G>T (p.Val447=)
n.964G>T
n.384G>T
c.33G>T (p.Val11=)
c.498G>T (p.Val166=)
n.444G>T
c.384G>T (p.Val128=)
c.1353G>T (p.Val451=)
c.1329G>T (p.Val443=)
c.1338G>T (p.Val446=)
c.1314G>T (p.Val438=)
c.1326G>T (p.Val442=)
1g.16996162C>GCA416094584ATP13A2c.1356G>C (p.Val452=)
c.1341G>C (p.Val447=)
n.964G>C
n.384G>C
c.33G>C (p.Val11=)
c.498G>C (p.Val166=)
n.444G>C
c.384G>C (p.Val128=)
c.1353G>C (p.Val451=)
c.1329G>C (p.Val443=)
c.1338G>C (p.Val446=)
c.1314G>C (p.Val438=)
c.1326G>C (p.Val442=)
 gnomAD v4
1g.16996162C>TCA416094583ATP13A2c.1356G>A (p.Val452=)
c.1341G>A (p.Val447=)
n.964G>A
n.384G>A
c.33G>A (p.Val11=)
c.498G>A (p.Val166=)
n.444G>A
c.384G>A (p.Val128=)
c.1353G>A (p.Val451=)
c.1329G>A (p.Val443=)
c.1338G>A (p.Val446=)
c.1314G>A (p.Val438=)
c.1326G>A (p.Val442=)
1g.16996163A>CCA338252969ATP13A2c.1355T>G (p.Val452Gly)
c.1340T>G (p.Val447Gly)
n.963T>G
n.383T>G
c.32T>G (p.Val11Gly)
c.497T>G (p.Val166Gly)
n.443T>G
c.383T>G (p.Val128Gly)
c.1352T>G (p.Val451Gly)
c.1328T>G (p.Val443Gly)
c.1337T>G (p.Val446Gly)
c.1313T>G (p.Val438Gly)
c.1325T>G (p.Val442Gly)
1g.16996163A>GCA338252971ATP13A2c.1355T>C (p.Val452Ala)
c.1340T>C (p.Val447Ala)
n.963T>C
n.383T>C
c.32T>C (p.Val11Ala)
c.497T>C (p.Val166Ala)
n.443T>C
c.383T>C (p.Val128Ala)
c.1352T>C (p.Val451Ala)
c.1328T>C (p.Val443Ala)
c.1337T>C (p.Val446Ala)
c.1313T>C (p.Val438Ala)
c.1325T>C (p.Val442Ala)
1g.16996163A>TCA338252972ATP13A2c.1355T>A (p.Val452Glu)
c.1340T>A (p.Val447Glu)
n.963T>A
n.383T>A
c.32T>A (p.Val11Glu)
c.497T>A (p.Val166Glu)
n.443T>A
c.383T>A (p.Val128Glu)
c.1352T>A (p.Val451Glu)
c.1328T>A (p.Val443Glu)
c.1337T>A (p.Val446Glu)
c.1313T>A (p.Val438Glu)
c.1325T>A (p.Val442Glu)
1g.16996166_16996254delCA637226ATP13A2c.1353+3_1355del
c.1338+3_1340del
n.961+3_963del
n.381+3_383del
c.30+3_32del
c.495+3_497del
n.441+3_443del
c.381+3_383del
c.1350+3_1352del
c.1326+3_1328del
c.1335+3_1337del
c.1311+3_1313del
c.1323+3_1325del
 ExAC gnomAD v4
1g.16996164C>ACA338252979ATP13A2c.1354G>T (p.Val452Leu)
c.1339G>T (p.Val447Leu)
n.962G>T
n.382G>T
c.31G>T (p.Val11Leu)
c.496G>T (p.Val166Leu)
n.442G>T
c.382G>T (p.Val128Leu)
c.1351G>T (p.Val451Leu)
c.1327G>T (p.Val443Leu)
c.1336G>T (p.Val446Leu)
c.1312G>T (p.Val438Leu)
c.1324G>T (p.Val442Leu)
1g.16996164C>GCA338252976ATP13A2c.1354G>C (p.Val452Leu)
c.1339G>C (p.Val447Leu)
n.962G>C
n.382G>C
c.31G>C (p.Val11Leu)
c.496G>C (p.Val166Leu)
n.442G>C
c.382G>C (p.Val128Leu)
c.1351G>C (p.Val451Leu)
c.1327G>C (p.Val443Leu)
c.1336G>C (p.Val446Leu)
c.1312G>C (p.Val438Leu)
c.1324G>C (p.Val442Leu)
 gnomAD v4
1g.16996164C>TCA338252973ATP13A2c.1354G>A (p.Val452Met)
c.1339G>A (p.Val447Met)
n.962G>A
n.382G>A
c.31G>A (p.Val11Met)
c.496G>A (p.Val166Met)
n.442G>A
c.382G>A (p.Val128Met)
c.1351G>A (p.Val451Met)
c.1327G>A (p.Val443Met)
c.1336G>A (p.Val446Met)
c.1312G>A (p.Val438Met)
c.1324G>A (p.Val442Met)
 dbSNP gnomAD v4
1g.16996165C>ACA338252985ATP13A2c.1354-1G>T (n.1354-1G>T)
c.1339-1G>T (n.1339-1G>T)
n.962-1G>T
n.382-1G>T
c.31-1G>T (n.31-1G>T)
c.496-1G>T (n.496-1G>T)
n.442-1G>T
c.382-1G>T (n.382-1G>T)
c.1351-1G>T (n.1351-1G>T)
c.1327-1G>T (n.1327-1G>T)
c.1336-1G>T (n.1336-1G>T)
c.1312-1G>T (n.1312-1G>T)
c.1324-1G>T (n.1324-1G>T)
1g.16996165C>GCA338252995ATP13A2c.1354-1G>C (n.1354-1G>C)
c.1339-1G>C (n.1339-1G>C)
n.962-1G>C
n.382-1G>C
c.31-1G>C (n.31-1G>C)
c.496-1G>C (n.496-1G>C)
n.442-1G>C
c.382-1G>C (n.382-1G>C)
c.1351-1G>C (n.1351-1G>C)
c.1327-1G>C (n.1327-1G>C)
c.1336-1G>C (n.1336-1G>C)
c.1312-1G>C (n.1312-1G>C)
c.1324-1G>C (n.1324-1G>C)
1g.16996165C>TCA338252997ATP13A2c.1354-1G>A (n.1354-1G>A)
c.1339-1G>A (n.1339-1G>A)
n.962-1G>A
n.382-1G>A
c.31-1G>A (n.31-1G>A)
c.496-1G>A (n.496-1G>A)
n.442-1G>A
c.382-1G>A (n.382-1G>A)
c.1351-1G>A (n.1351-1G>A)
c.1327-1G>A (n.1327-1G>A)
c.1336-1G>A (n.1336-1G>A)
c.1312-1G>A (n.1312-1G>A)
c.1324-1G>A (n.1324-1G>A)
1g.16996166T>ACA338252999ATP13A2c.1354-2A>T (n.1354-2A>T)
c.1339-2A>T (n.1339-2A>T)
n.962-2A>T
n.382-2A>T
c.31-2A>T (n.31-2A>T)
c.496-2A>T (n.496-2A>T)
n.442-2A>T
c.382-2A>T (n.382-2A>T)
c.1351-2A>T (n.1351-2A>T)
c.1327-2A>T (n.1327-2A>T)
c.1336-2A>T (n.1336-2A>T)
c.1312-2A>T (n.1312-2A>T)
c.1324-2A>T (n.1324-2A>T)
1g.16996166T>CCA338253002ATP13A2c.1354-2A>G (n.1354-2A>G)
c.1339-2A>G (n.1339-2A>G)
n.962-2A>G
n.382-2A>G
c.31-2A>G (n.31-2A>G)
c.496-2A>G (n.496-2A>G)
n.442-2A>G
c.382-2A>G (n.382-2A>G)
c.1351-2A>G (n.1351-2A>G)
c.1327-2A>G (n.1327-2A>G)
c.1336-2A>G (n.1336-2A>G)
c.1312-2A>G (n.1312-2A>G)
c.1324-2A>G (n.1324-2A>G)
1g.16996166T>GCA338253004ATP13A2c.1354-2A>C (n.1354-2A>C)
c.1339-2A>C (n.1339-2A>C)
n.962-2A>C
n.382-2A>C
c.31-2A>C (n.31-2A>C)
c.496-2A>C (n.496-2A>C)
n.442-2A>C
c.382-2A>C (n.382-2A>C)
c.1351-2A>C (n.1351-2A>C)
c.1327-2A>C (n.1327-2A>C)
c.1336-2A>C (n.1336-2A>C)
c.1312-2A>C (n.1312-2A>C)
c.1324-2A>C (n.1324-2A>C)
1g.16996168G=CA1156030805ATP13A2c.1354-4C= (n.1354-4C=)
c.1339-4C= (n.1339-4C=)
n.962-4C=
n.382-4C=
c.31-4C= (n.31-4C=)
c.496-4C= (n.496-4C=)
n.442-4C=
c.382-4C= (n.382-4C=)
c.1351-4C= (n.1351-4C=)
c.1327-4C= (n.1327-4C=)
c.1336-4C= (n.1336-4C=)
c.1312-4C= (n.1312-4C=)
c.1324-4C= (n.1324-4C=)
1g.16996168G>TCA637227ATP13A2c.1354-4C>A (n.1354-4C>A)
c.1339-4C>A (n.1339-4C>A)
n.962-4C>A
n.382-4C>A
c.31-4C>A (n.31-4C>A)
c.496-4C>A (n.496-4C>A)
n.442-4C>A
c.382-4C>A (n.382-4C>A)
c.1351-4C>A (n.1351-4C>A)
c.1327-4C>A (n.1327-4C>A)
c.1336-4C>A (n.1336-4C>A)
c.1312-4C>A (n.1312-4C>A)
c.1324-4C>A (n.1324-4C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996169C>ACA521449725ATP13A2c.1354-5G>T (n.1354-5G>T)
c.1339-5G>T (n.1339-5G>T)
n.962-5G>T
n.382-5G>T
c.31-5G>T (n.31-5G>T)
c.496-5G>T (n.496-5G>T)
n.442-5G>T
c.382-5G>T (n.382-5G>T)
c.1351-5G>T (n.1351-5G>T)
c.1327-5G>T (n.1327-5G>T)
c.1336-5G>T (n.1336-5G>T)
c.1312-5G>T (n.1312-5G>T)
c.1324-5G>T (n.1324-5G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.16996169C=CA1156030810ATP13A2c.1354-5G= (n.1354-5G=)
c.1339-5G= (n.1339-5G=)
n.962-5G=
n.382-5G=
c.31-5G= (n.31-5G=)
c.496-5G= (n.496-5G=)
n.442-5G=
c.382-5G= (n.382-5G=)
c.1351-5G= (n.1351-5G=)
c.1327-5G= (n.1327-5G=)
c.1336-5G= (n.1336-5G=)
c.1312-5G= (n.1312-5G=)
c.1324-5G= (n.1324-5G=)
1g.16996169C>TCA645512531ATP13A2c.1354-5G>A (n.1354-5G>A)
c.1339-5G>A (n.1339-5G>A)
n.962-5G>A
n.382-5G>A
c.31-5G>A (n.31-5G>A)
c.496-5G>A (n.496-5G>A)
n.442-5G>A
c.382-5G>A (n.382-5G>A)
c.1351-5G>A (n.1351-5G>A)
c.1327-5G>A (n.1327-5G>A)
c.1336-5G>A (n.1336-5G>A)
c.1312-5G>A (n.1312-5G>A)
c.1324-5G>A (n.1324-5G>A)
 gnomAD v4 COSMIC COSMIC
1g.16996170A=CA1156030814ATP13A2c.1354-6T= (n.1354-6T=)
c.1339-6T= (n.1339-6T=)
n.962-6T=
n.382-6T=
c.31-6T= (n.31-6T=)
c.496-6T= (n.496-6T=)
n.442-6T=
c.382-6T= (n.382-6T=)
c.1351-6T= (n.1351-6T=)
c.1327-6T= (n.1327-6T=)
c.1336-6T= (n.1336-6T=)
c.1312-6T= (n.1312-6T=)
c.1324-6T= (n.1324-6T=)
1g.16996170A>GCA637228ATP13A2c.1354-6T>C (n.1354-6T>C)
c.1339-6T>C (n.1339-6T>C)
n.962-6T>C
n.382-6T>C
c.31-6T>C (n.31-6T>C)
c.496-6T>C (n.496-6T>C)
n.442-6T>C
c.382-6T>C (n.382-6T>C)
c.1351-6T>C (n.1351-6T>C)
c.1327-6T>C (n.1327-6T>C)
c.1336-6T>C (n.1336-6T>C)
c.1312-6T>C (n.1312-6T>C)
c.1324-6T>C (n.1324-6T>C)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.16996171G>ACA637229ATP13A2c.1354-7C>T (n.1354-7C>T)
c.1339-7C>T (n.1339-7C>T)
n.962-7C>T
n.382-7C>T
c.31-7C>T (n.31-7C>T)
c.496-7C>T (n.496-7C>T)
n.442-7C>T
c.382-7C>T (n.382-7C>T)
c.1351-7C>T (n.1351-7C>T)
c.1327-7C>T (n.1327-7C>T)
c.1336-7C>T (n.1336-7C>T)
c.1312-7C>T (n.1312-7C>T)
c.1324-7C>T (n.1324-7C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996171G=CA1156030820ATP13A2c.1354-7C= (n.1354-7C=)
c.1339-7C= (n.1339-7C=)
n.962-7C=
n.382-7C=
c.31-7C= (n.31-7C=)
c.496-7C= (n.496-7C=)
n.442-7C=
c.382-7C= (n.382-7C=)
c.1351-7C= (n.1351-7C=)
c.1327-7C= (n.1327-7C=)
c.1336-7C= (n.1336-7C=)
c.1312-7C= (n.1312-7C=)
c.1324-7C= (n.1324-7C=)
1g.16996175dupCA521449726ATP13A2c.1354-7dup (n.1354-7dup)
c.1339-7dup (n.1339-7dup)
n.962-7dup
n.382-7dup
c.31-7dup (n.31-7dup)
c.496-7dup (n.496-7dup)
n.442-7dup
c.382-7dup (n.382-7dup)
c.1351-7dup (n.1351-7dup)
c.1327-7dup (n.1327-7dup)
c.1336-7dup (n.1336-7dup)
c.1312-7dup (n.1312-7dup)
c.1324-7dup (n.1324-7dup)
 dbSNP gnomAD v2 gnomAD v4
1g.16996172G>ACA2643673821ATP13A2c.1354-8C>T (n.1354-8C>T)
c.1339-8C>T (n.1339-8C>T)
n.962-8C>T
n.382-8C>T
c.31-8C>T (n.31-8C>T)
c.496-8C>T (n.496-8C>T)
n.442-8C>T
c.382-8C>T (n.382-8C>T)
c.1351-8C>T (n.1351-8C>T)
c.1327-8C>T (n.1327-8C>T)
c.1336-8C>T (n.1336-8C>T)
c.1312-8C>T (n.1312-8C>T)
c.1324-8C>T (n.1324-8C>T)
 gnomAD v4
1g.16996173G>CCA2643673822ATP13A2c.1354-9C>G (n.1354-9C>G)
c.1339-9C>G (n.1339-9C>G)
n.962-9C>G
n.382-9C>G
c.31-9C>G (n.31-9C>G)
c.496-9C>G (n.496-9C>G)
n.442-9C>G
c.382-9C>G (n.382-9C>G)
c.1351-9C>G (n.1351-9C>G)
c.1327-9C>G (n.1327-9C>G)
c.1336-9C>G (n.1336-9C>G)
c.1312-9C>G (n.1312-9C>G)
c.1324-9C>G (n.1324-9C>G)
 gnomAD v4
1g.16996173G=CA1156030824ATP13A2c.1354-9C= (n.1354-9C=)
c.1339-9C= (n.1339-9C=)
n.962-9C=
n.382-9C=
c.31-9C= (n.31-9C=)
c.496-9C= (n.496-9C=)
n.442-9C=
c.382-9C= (n.382-9C=)
c.1351-9C= (n.1351-9C=)
c.1327-9C= (n.1327-9C=)
c.1336-9C= (n.1336-9C=)
c.1312-9C= (n.1312-9C=)
c.1324-9C= (n.1324-9C=)
1g.16996173G>TCA521449728ATP13A2c.1354-9C>A (n.1354-9C>A)
c.1339-9C>A (n.1339-9C>A)
n.962-9C>A
n.382-9C>A
c.31-9C>A (n.31-9C>A)
c.496-9C>A (n.496-9C>A)
n.442-9C>A
c.382-9C>A (n.382-9C>A)
c.1351-9C>A (n.1351-9C>A)
c.1327-9C>A (n.1327-9C>A)
c.1336-9C>A (n.1336-9C>A)
c.1312-9C>A (n.1312-9C>A)
c.1324-9C>A (n.1324-9C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16996174G>ACA637230ATP13A2c.1354-10C>T (n.1354-10C>T)
c.1339-10C>T (n.1339-10C>T)
n.962-10C>T
n.382-10C>T
c.31-10C>T (n.31-10C>T)
c.496-10C>T (n.496-10C>T)
n.442-10C>T
c.382-10C>T (n.382-10C>T)
c.1351-10C>T (n.1351-10C>T)
c.1327-10C>T (n.1327-10C>T)
c.1336-10C>T (n.1336-10C>T)
c.1312-10C>T (n.1312-10C>T)
c.1324-10C>T (n.1324-10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996174G=CA1148232174ATP13A2c.1354-10C= (n.1354-10C=)
c.1339-10C= (n.1339-10C=)
n.962-10C=
n.382-10C=
c.31-10C= (n.31-10C=)
c.496-10C= (n.496-10C=)
n.442-10C=
c.382-10C= (n.382-10C=)
c.1351-10C= (n.1351-10C=)
c.1327-10C= (n.1327-10C=)
c.1336-10C= (n.1336-10C=)
c.1312-10C= (n.1312-10C=)
c.1324-10C= (n.1324-10C=)
1g.16996174G>TCA521449730ATP13A2c.1354-10C>A (n.1354-10C>A)
c.1339-10C>A (n.1339-10C>A)
n.962-10C>A
n.382-10C>A
c.31-10C>A (n.31-10C>A)
c.496-10C>A (n.496-10C>A)
n.442-10C>A
c.382-10C>A (n.382-10C>A)
c.1351-10C>A (n.1351-10C>A)
c.1327-10C>A (n.1327-10C>A)
c.1336-10C>A (n.1336-10C>A)
c.1312-10C>A (n.1312-10C>A)
c.1324-10C>A (n.1324-10C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.16996175G>ACA637231ATP13A2c.1354-11C>T (n.1354-11C>T)
c.1339-11C>T (n.1339-11C>T)
n.962-11C>T
n.382-11C>T
c.31-11C>T (n.31-11C>T)
c.496-11C>T (n.496-11C>T)
n.442-11C>T
c.382-11C>T (n.382-11C>T)
c.1351-11C>T (n.1351-11C>T)
c.1327-11C>T (n.1327-11C>T)
c.1336-11C>T (n.1336-11C>T)
c.1312-11C>T (n.1312-11C>T)
c.1324-11C>T (n.1324-11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996175G>CCA1156030834ATP13A2c.1354-11C>G (n.1354-11C>G)
c.1339-11C>G (n.1339-11C>G)
n.962-11C>G
n.382-11C>G
c.31-11C>G (n.31-11C>G)
c.496-11C>G (n.496-11C>G)
n.442-11C>G
c.382-11C>G (n.382-11C>G)
c.1351-11C>G (n.1351-11C>G)
c.1327-11C>G (n.1327-11C>G)
c.1336-11C>G (n.1336-11C>G)
c.1312-11C>G (n.1312-11C>G)
c.1324-11C>G (n.1324-11C>G)
 dbSNP
1g.16996175G=CA1156030830ATP13A2c.1354-11C= (n.1354-11C=)
c.1339-11C= (n.1339-11C=)
n.962-11C=
n.382-11C=
c.31-11C= (n.31-11C=)
c.496-11C= (n.496-11C=)
n.442-11C=
c.382-11C= (n.382-11C=)
c.1351-11C= (n.1351-11C=)
c.1327-11C= (n.1327-11C=)
c.1336-11C= (n.1336-11C=)
c.1312-11C= (n.1312-11C=)
c.1324-11C= (n.1324-11C=)

Number of alleles fetched