Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.16996011G>ACA416094603ATP13A2c.1507C>T (p.Leu503=)
c.1492C>T (p.Leu498=)
n.1115C>T
n.535C>T
c.184C>T (p.Leu62=)
c.535C>T (p.Leu179=)
c.1504C>T (p.Leu502=)
c.1480C>T (p.Leu494=)
c.1489C>T (p.Leu497=)
c.1465C>T (p.Leu489=)
c.1477C>T (p.Leu493=)
 COSMIC COSMIC
1g.16996011G>CCA338251866ATP13A2c.1507C>G (p.Leu503Val)
c.1492C>G (p.Leu498Val)
n.1115C>G
n.535C>G
c.184C>G (p.Leu62Val)
c.535C>G (p.Leu179Val)
c.1504C>G (p.Leu502Val)
c.1480C>G (p.Leu494Val)
c.1489C>G (p.Leu497Val)
c.1465C>G (p.Leu489Val)
c.1477C>G (p.Leu493Val)
1g.16996011G>TCA338251867ATP13A2c.1507C>A (p.Leu503Met)
c.1492C>A (p.Leu498Met)
n.1115C>A
n.535C>A
c.184C>A (p.Leu62Met)
c.535C>A (p.Leu179Met)
c.1504C>A (p.Leu502Met)
c.1480C>A (p.Leu494Met)
c.1489C>A (p.Leu497Met)
c.1465C>A (p.Leu489Met)
c.1477C>A (p.Leu493Met)
1g.16996013_16996026delCA2574234387ATP13A2c.1494_1507del (p.Leu499GlyfsTer17)
c.1479_1492del (p.Leu494GlyfsTer17)
n.1102_1115del
n.522_535del
c.171_184del (p.Leu58GlyfsTer?)
c.522_535del (p.Leu175GlyfsTer?)
c.1491_1504del (p.Leu498GlyfsTer17)
c.1467_1480del (p.Leu490GlyfsTer17)
c.1476_1489del (p.Leu493GlyfsTer17)
c.1452_1465del (p.Leu485GlyfsTer17)
c.1494_1507del (p.Leu499GlyfsTer12)
c.1494_1507del (p.Leu499GlyfsTer?)
c.1464_1477del (p.Leu489GlyfsTer12)
1g.16996012G>ACA416094604ATP13A2c.1506C>T (p.Asn502=)
c.1491C>T (p.Asn497=)
n.1114C>T
n.534C>T
c.183C>T (p.Asn61=)
c.534C>T (p.Asn178=)
c.1503C>T (p.Asn501=)
c.1479C>T (p.Asn493=)
c.1488C>T (p.Asn496=)
c.1464C>T (p.Asn488=)
c.1476C>T (p.Asn492=)
1g.16996012G>CCA338251868ATP13A2c.1506C>G (p.Asn502Lys)
c.1491C>G (p.Asn497Lys)
n.1114C>G
n.534C>G
c.183C>G (p.Asn61Lys)
c.534C>G (p.Asn178Lys)
c.1503C>G (p.Asn501Lys)
c.1479C>G (p.Asn493Lys)
c.1488C>G (p.Asn496Lys)
c.1464C>G (p.Asn488Lys)
c.1476C>G (p.Asn492Lys)
1g.16996012G>TCA338251870ATP13A2c.1506C>A (p.Asn502Lys)
c.1491C>A (p.Asn497Lys)
n.1114C>A
n.534C>A
c.183C>A (p.Asn61Lys)
c.534C>A (p.Asn178Lys)
c.1503C>A (p.Asn501Lys)
c.1479C>A (p.Asn493Lys)
c.1488C>A (p.Asn496Lys)
c.1464C>A (p.Asn488Lys)
c.1476C>A (p.Asn492Lys)
1g.16996013T>ACA338251871ATP13A2c.1505A>T (p.Asn502Ile)
c.1490A>T (p.Asn497Ile)
n.1113A>T
n.533A>T
c.182A>T (p.Asn61Ile)
c.533A>T (p.Asn178Ile)
c.1502A>T (p.Asn501Ile)
c.1478A>T (p.Asn493Ile)
c.1487A>T (p.Asn496Ile)
c.1463A>T (p.Asn488Ile)
c.1475A>T (p.Asn492Ile)
1g.16996013T>CCA338251872ATP13A2c.1505A>G (p.Asn502Ser)
c.1490A>G (p.Asn497Ser)
n.1113A>G
n.533A>G
c.182A>G (p.Asn61Ser)
c.533A>G (p.Asn178Ser)
c.1502A>G (p.Asn501Ser)
c.1478A>G (p.Asn493Ser)
c.1487A>G (p.Asn496Ser)
c.1463A>G (p.Asn488Ser)
c.1475A>G (p.Asn492Ser)
 COSMIC COSMIC
1g.16996013T>GCA338251873ATP13A2c.1505A>C (p.Asn502Thr)
c.1490A>C (p.Asn497Thr)
n.1113A>C
n.533A>C
c.182A>C (p.Asn61Thr)
c.533A>C (p.Asn178Thr)
c.1502A>C (p.Asn501Thr)
c.1478A>C (p.Asn493Thr)
c.1487A>C (p.Asn496Thr)
c.1463A>C (p.Asn488Thr)
c.1475A>C (p.Asn492Thr)
 gnomAD v4
1g.16996014T>ACA338251884ATP13A2c.1504A>T (p.Asn502Tyr)
c.1489A>T (p.Asn497Tyr)
n.1112A>T
n.532A>T
c.181A>T (p.Asn61Tyr)
c.532A>T (p.Asn178Tyr)
c.1501A>T (p.Asn501Tyr)
c.1477A>T (p.Asn493Tyr)
c.1486A>T (p.Asn496Tyr)
c.1462A>T (p.Asn488Tyr)
c.1474A>T (p.Asn492Tyr)
1g.16996014T>CCA338251877ATP13A2c.1504A>G (p.Asn502Asp)
c.1489A>G (p.Asn497Asp)
n.1112A>G
n.532A>G
c.181A>G (p.Asn61Asp)
c.532A>G (p.Asn178Asp)
c.1501A>G (p.Asn501Asp)
c.1477A>G (p.Asn493Asp)
c.1486A>G (p.Asn496Asp)
c.1462A>G (p.Asn488Asp)
c.1474A>G (p.Asn492Asp)
1g.16996014T>GCA637193ATP13A2c.1504A>C (p.Asn502His)
c.1489A>C (p.Asn497His)
n.1112A>C
n.532A>C
c.181A>C (p.Asn61His)
c.532A>C (p.Asn178His)
c.1501A>C (p.Asn501His)
c.1477A>C (p.Asn493His)
c.1486A>C (p.Asn496His)
c.1462A>C (p.Asn488His)
c.1474A>C (p.Asn492His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996014T=CA1156030468ATP13A2c.1504A= (p.Asn502=)
c.1489A= (p.Asn497=)
n.1112A=
n.532A=
c.181A= (p.Asn61=)
c.532A= (p.Asn178=)
c.1501A= (p.Asn501=)
c.1477A= (p.Asn493=)
c.1486A= (p.Asn496=)
c.1462A= (p.Asn488=)
c.1474A= (p.Asn492=)
1g.16996015G>ACA416094613ATP13A2c.1503C>T (p.Ile501=)
c.1488C>T (p.Ile496=)
n.1111C>T
n.531C>T
c.180C>T (p.Ile60=)
c.531C>T (p.Ile177=)
c.1500C>T (p.Ile500=)
c.1476C>T (p.Ile492=)
c.1485C>T (p.Ile495=)
c.1461C>T (p.Ile487=)
c.1473C>T (p.Ile491=)
 gnomAD v4
1g.16996015G>CCA338251887ATP13A2c.1503C>G (p.Ile501Met)
c.1488C>G (p.Ile496Met)
n.1111C>G
n.531C>G
c.180C>G (p.Ile60Met)
c.531C>G (p.Ile177Met)
c.1500C>G (p.Ile500Met)
c.1476C>G (p.Ile492Met)
c.1485C>G (p.Ile495Met)
c.1461C>G (p.Ile487Met)
c.1473C>G (p.Ile491Met)
 gnomAD v4
1g.16996015G>TCA416094614ATP13A2c.1503C>A (p.Ile501=)
c.1488C>A (p.Ile496=)
n.1111C>A
n.531C>A
c.180C>A (p.Ile60=)
c.531C>A (p.Ile177=)
c.1500C>A (p.Ile500=)
c.1476C>A (p.Ile492=)
c.1485C>A (p.Ile495=)
c.1461C>A (p.Ile487=)
c.1473C>A (p.Ile491=)
1g.16996016A>CCA338251890ATP13A2c.1502T>G (p.Ile501Ser)
c.1487T>G (p.Ile496Ser)
n.1110T>G
n.530T>G
c.179T>G (p.Ile60Ser)
c.530T>G (p.Ile177Ser)
c.1499T>G (p.Ile500Ser)
c.1475T>G (p.Ile492Ser)
c.1484T>G (p.Ile495Ser)
c.1460T>G (p.Ile487Ser)
c.1472T>G (p.Ile491Ser)
1g.16996016A>GCA338251896ATP13A2c.1502T>C (p.Ile501Thr)
c.1487T>C (p.Ile496Thr)
n.1110T>C
n.530T>C
c.179T>C (p.Ile60Thr)
c.530T>C (p.Ile177Thr)
c.1499T>C (p.Ile500Thr)
c.1475T>C (p.Ile492Thr)
c.1484T>C (p.Ile495Thr)
c.1460T>C (p.Ile487Thr)
c.1472T>C (p.Ile491Thr)
1g.16996016A>TCA338251899ATP13A2c.1502T>A (p.Ile501Asn)
c.1487T>A (p.Ile496Asn)
n.1110T>A
n.530T>A
c.179T>A (p.Ile60Asn)
c.530T>A (p.Ile177Asn)
c.1499T>A (p.Ile500Asn)
c.1475T>A (p.Ile492Asn)
c.1484T>A (p.Ile495Asn)
c.1460T>A (p.Ile487Asn)
c.1472T>A (p.Ile491Asn)
1g.16996017T>ACA338251900ATP13A2c.1501A>T (p.Ile501Phe)
c.1486A>T (p.Ile496Phe)
n.1109A>T
n.529A>T
c.178A>T (p.Ile60Phe)
c.529A>T (p.Ile177Phe)
c.1498A>T (p.Ile500Phe)
c.1474A>T (p.Ile492Phe)
c.1483A>T (p.Ile495Phe)
c.1459A>T (p.Ile487Phe)
c.1471A>T (p.Ile491Phe)
1g.16996017T>CCA338251901ATP13A2c.1501A>G (p.Ile501Val)
c.1486A>G (p.Ile496Val)
n.1109A>G
n.529A>G
c.178A>G (p.Ile60Val)
c.529A>G (p.Ile177Val)
c.1498A>G (p.Ile500Val)
c.1474A>G (p.Ile492Val)
c.1483A>G (p.Ile495Val)
c.1459A>G (p.Ile487Val)
c.1471A>G (p.Ile491Val)
1g.16996017T>GCA338251902ATP13A2c.1501A>C (p.Ile501Leu)
c.1486A>C (p.Ile496Leu)
n.1109A>C
n.529A>C
c.178A>C (p.Ile60Leu)
c.529A>C (p.Ile177Leu)
c.1498A>C (p.Ile500Leu)
c.1474A>C (p.Ile492Leu)
c.1483A>C (p.Ile495Leu)
c.1459A>C (p.Ile487Leu)
c.1471A>C (p.Ile491Leu)
1g.16996018G>ACA416094623ATP13A2c.1500C>T (p.Arg500=)
c.1485C>T (p.Arg495=)
n.1108C>T
n.528C>T
c.177C>T (p.Arg59=)
c.528C>T (p.Arg176=)
c.1497C>T (p.Arg499=)
c.1473C>T (p.Arg491=)
c.1482C>T (p.Arg494=)
c.1458C>T (p.Arg486=)
c.1470C>T (p.Arg490=)
1g.16996018G>CCA416094624ATP13A2c.1500C>G (p.Arg500=)
c.1485C>G (p.Arg495=)
n.1108C>G
n.528C>G
c.177C>G (p.Arg59=)
c.528C>G (p.Arg176=)
c.1497C>G (p.Arg499=)
c.1473C>G (p.Arg491=)
c.1482C>G (p.Arg494=)
c.1458C>G (p.Arg486=)
c.1470C>G (p.Arg490=)
1g.16996018G>TCA416094627ATP13A2c.1500C>A (p.Arg500=)
c.1485C>A (p.Arg495=)
n.1108C>A
n.528C>A
c.177C>A (p.Arg59=)
c.528C>A (p.Arg176=)
c.1497C>A (p.Arg499=)
c.1473C>A (p.Arg491=)
c.1482C>A (p.Arg494=)
c.1458C>A (p.Arg486=)
c.1470C>A (p.Arg490=)
 gnomAD v4
1g.16996019C>ACA338251903ATP13A2c.1499G>T (p.Arg500Leu)
c.1484G>T (p.Arg495Leu)
n.1107G>T
n.527G>T
c.176G>T (p.Arg59Leu)
c.527G>T (p.Arg176Leu)
c.1496G>T (p.Arg499Leu)
c.1472G>T (p.Arg491Leu)
c.1481G>T (p.Arg494Leu)
c.1457G>T (p.Arg486Leu)
c.1469G>T (p.Arg490Leu)
 dbSNP gnomAD v4
1g.16996019C=CA1156030475ATP13A2c.1499G= (p.Arg500=)
c.1484G= (p.Arg495=)
n.1107G=
n.527G=
c.176G= (p.Arg59=)
c.527G= (p.Arg176=)
c.1496G= (p.Arg499=)
c.1472G= (p.Arg491=)
c.1481G= (p.Arg494=)
c.1457G= (p.Arg486=)
c.1469G= (p.Arg490=)
1g.16996019C>GCA338251904ATP13A2c.1499G>C (p.Arg500Pro)
c.1484G>C (p.Arg495Pro)
n.1107G>C
n.527G>C
c.176G>C (p.Arg59Pro)
c.527G>C (p.Arg176Pro)
c.1496G>C (p.Arg499Pro)
c.1472G>C (p.Arg491Pro)
c.1481G>C (p.Arg494Pro)
c.1457G>C (p.Arg486Pro)
c.1469G>C (p.Arg490Pro)
1g.16996019C>TCA637194ATP13A2c.1499G>A (p.Arg500His)
c.1484G>A (p.Arg495His)
n.1107G>A
n.527G>A
c.176G>A (p.Arg59His)
c.527G>A (p.Arg176His)
c.1496G>A (p.Arg499His)
c.1472G>A (p.Arg491His)
c.1481G>A (p.Arg494His)
c.1457G>A (p.Arg486His)
c.1469G>A (p.Arg490His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996020G>ACA637195ATP13A2c.1498C>T (p.Arg500Cys)
c.1483C>T (p.Arg495Cys)
n.1106C>T
n.526C>T
c.175C>T (p.Arg59Cys)
c.526C>T (p.Arg176Cys)
c.1495C>T (p.Arg499Cys)
c.1471C>T (p.Arg491Cys)
c.1480C>T (p.Arg494Cys)
c.1456C>T (p.Arg486Cys)
c.1468C>T (p.Arg490Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.16996020G>CCA338251910ATP13A2c.1498C>G (p.Arg500Gly)
c.1483C>G (p.Arg495Gly)
n.1106C>G
n.526C>G
c.175C>G (p.Arg59Gly)
c.526C>G (p.Arg176Gly)
c.1495C>G (p.Arg499Gly)
c.1471C>G (p.Arg491Gly)
c.1480C>G (p.Arg494Gly)
c.1456C>G (p.Arg486Gly)
c.1468C>G (p.Arg490Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.16996020G=CA1156030485ATP13A2c.1498C= (p.Arg500=)
c.1483C= (p.Arg495=)
n.1106C=
n.526C=
c.175C= (p.Arg59=)
c.526C= (p.Arg176=)
c.1495C= (p.Arg499=)
c.1471C= (p.Arg491=)
c.1480C= (p.Arg494=)
c.1456C= (p.Arg486=)
c.1468C= (p.Arg490=)
1g.16996020G>TCA338251906ATP13A2c.1498C>A (p.Arg500Ser)
c.1483C>A (p.Arg495Ser)
n.1106C>A
n.526C>A
c.175C>A (p.Arg59Ser)
c.526C>A (p.Arg176Ser)
c.1495C>A (p.Arg499Ser)
c.1471C>A (p.Arg491Ser)
c.1480C>A (p.Arg494Ser)
c.1456C>A (p.Arg486Ser)
c.1468C>A (p.Arg490Ser)
1g.16996021C>ACA416094633ATP13A2c.1497G>T (p.Leu499=)
c.1482G>T (p.Leu494=)
n.1105G>T
n.525G>T
c.174G>T (p.Leu58=)
c.525G>T (p.Leu175=)
c.1494G>T (p.Leu498=)
c.1470G>T (p.Leu490=)
c.1479G>T (p.Leu493=)
c.1455G>T (p.Leu485=)
c.1467G>T (p.Leu489=)
1g.16996021C=CA1156030489ATP13A2c.1497G= (p.Leu499=)
c.1482G= (p.Leu494=)
n.1105G=
n.525G=
c.174G= (p.Leu58=)
c.525G= (p.Leu175=)
c.1494G= (p.Leu498=)
c.1470G= (p.Leu490=)
c.1479G= (p.Leu493=)
c.1455G= (p.Leu485=)
c.1467G= (p.Leu489=)
1g.16996021C>GCA416094637ATP13A2c.1497G>C (p.Leu499=)
c.1482G>C (p.Leu494=)
n.1105G>C
n.525G>C
c.174G>C (p.Leu58=)
c.525G>C (p.Leu175=)
c.1494G>C (p.Leu498=)
c.1470G>C (p.Leu490=)
c.1479G>C (p.Leu493=)
c.1455G>C (p.Leu485=)
c.1467G>C (p.Leu489=)
1g.16996021C>TCA416094635ATP13A2c.1497G>A (p.Leu499=)
c.1482G>A (p.Leu494=)
n.1105G>A
n.525G>A
c.174G>A (p.Leu58=)
c.525G>A (p.Leu175=)
c.1494G>A (p.Leu498=)
c.1470G>A (p.Leu490=)
c.1479G>A (p.Leu493=)
c.1455G>A (p.Leu485=)
c.1467G>A (p.Leu489=)
 dbSNP gnomAD v4
1g.16996022A>CCA338251913ATP13A2c.1496T>G (p.Leu499Arg)
c.1481T>G (p.Leu494Arg)
n.1104T>G
n.524T>G
c.173T>G (p.Leu58Arg)
c.524T>G (p.Leu175Arg)
c.1493T>G (p.Leu498Arg)
c.1469T>G (p.Leu490Arg)
c.1478T>G (p.Leu493Arg)
c.1454T>G (p.Leu485Arg)
c.1466T>G (p.Leu489Arg)
1g.16996022A>GCA338251916ATP13A2c.1496T>C (p.Leu499Pro)
c.1481T>C (p.Leu494Pro)
n.1104T>C
n.524T>C
c.173T>C (p.Leu58Pro)
c.524T>C (p.Leu175Pro)
c.1493T>C (p.Leu498Pro)
c.1469T>C (p.Leu490Pro)
c.1478T>C (p.Leu493Pro)
c.1454T>C (p.Leu485Pro)
c.1466T>C (p.Leu489Pro)
1g.16996022A>TCA338251918ATP13A2c.1496T>A (p.Leu499Gln)
c.1481T>A (p.Leu494Gln)
n.1104T>A
n.524T>A
c.173T>A (p.Leu58Gln)
c.524T>A (p.Leu175Gln)
c.1493T>A (p.Leu498Gln)
c.1469T>A (p.Leu490Gln)
c.1478T>A (p.Leu493Gln)
c.1454T>A (p.Leu485Gln)
c.1466T>A (p.Leu489Gln)
1g.16996023G>ACA416094644ATP13A2c.1495C>T (p.Leu499=)
c.1480C>T (p.Leu494=)
n.1103C>T
n.523C>T
c.172C>T (p.Leu58=)
c.523C>T (p.Leu175=)
c.1492C>T (p.Leu498=)
c.1468C>T (p.Leu490=)
c.1477C>T (p.Leu493=)
c.1453C>T (p.Leu485=)
c.1465C>T (p.Leu489=)
1g.16996023G>CCA338251939ATP13A2c.1495C>G (p.Leu499Val)
c.1480C>G (p.Leu494Val)
n.1103C>G
n.523C>G
c.172C>G (p.Leu58Val)
c.523C>G (p.Leu175Val)
c.1492C>G (p.Leu498Val)
c.1468C>G (p.Leu490Val)
c.1477C>G (p.Leu493Val)
c.1453C>G (p.Leu485Val)
c.1465C>G (p.Leu489Val)
1g.16996023G>TCA338251943ATP13A2c.1495C>A (p.Leu499Met)
c.1480C>A (p.Leu494Met)
n.1103C>A
n.523C>A
c.172C>A (p.Leu58Met)
c.523C>A (p.Leu175Met)
c.1492C>A (p.Leu498Met)
c.1468C>A (p.Leu490Met)
c.1477C>A (p.Leu493Met)
c.1453C>A (p.Leu485Met)
c.1465C>A (p.Leu489Met)
1g.16996024T>ACA416094650ATP13A2c.1494A>T (p.Pro498=)
c.1479A>T (p.Pro493=)
n.1102A>T
n.522A>T
c.171A>T (p.Pro57=)
c.522A>T (p.Pro174=)
c.1491A>T (p.Pro497=)
c.1467A>T (p.Pro489=)
c.1476A>T (p.Pro492=)
c.1452A>T (p.Pro484=)
c.1464A>T (p.Pro488=)
1g.16996024T>CCA416094648ATP13A2c.1494A>G (p.Pro498=)
c.1479A>G (p.Pro493=)
n.1102A>G
n.522A>G
c.171A>G (p.Pro57=)
c.522A>G (p.Pro174=)
c.1491A>G (p.Pro497=)
c.1467A>G (p.Pro489=)
c.1476A>G (p.Pro492=)
c.1452A>G (p.Pro484=)
c.1464A>G (p.Pro488=)
 dbSNP gnomAD v4 COSMIC COSMIC
1g.16996024T>GCA416094646ATP13A2c.1494A>C (p.Pro498=)
c.1479A>C (p.Pro493=)
n.1102A>C
n.522A>C
c.171A>C (p.Pro57=)
c.522A>C (p.Pro174=)
c.1491A>C (p.Pro497=)
c.1467A>C (p.Pro489=)
c.1476A>C (p.Pro492=)
c.1452A>C (p.Pro484=)
c.1464A>C (p.Pro488=)
 gnomAD v4
1g.16996024T=CA1156030496ATP13A2c.1494A= (p.Pro498=)
c.1479A= (p.Pro493=)
n.1102A=
n.522A=
c.171A= (p.Pro57=)
c.522A= (p.Pro174=)
c.1491A= (p.Pro497=)
c.1467A= (p.Pro489=)
c.1476A= (p.Pro492=)
c.1452A= (p.Pro484=)
c.1464A= (p.Pro488=)
1g.16996025G>ACA338251953ATP13A2c.1493C>T (p.Pro498Leu)
c.1478C>T (p.Pro493Leu)
n.1101C>T
n.521C>T
c.170C>T (p.Pro57Leu)
c.521C>T (p.Pro174Leu)
c.1490C>T (p.Pro497Leu)
c.1466C>T (p.Pro489Leu)
c.1475C>T (p.Pro492Leu)
c.1451C>T (p.Pro484Leu)
c.1463C>T (p.Pro488Leu)
1g.16996025G>CCA338251946ATP13A2c.1493C>G (p.Pro498Arg)
c.1478C>G (p.Pro493Arg)
n.1101C>G
n.521C>G
c.170C>G (p.Pro57Arg)
c.521C>G (p.Pro174Arg)
c.1490C>G (p.Pro497Arg)
c.1466C>G (p.Pro489Arg)
c.1475C>G (p.Pro492Arg)
c.1451C>G (p.Pro484Arg)
c.1463C>G (p.Pro488Arg)
 gnomAD v4
1g.16996025G>TCA338251948ATP13A2c.1493C>A (p.Pro498Gln)
c.1478C>A (p.Pro493Gln)
n.1101C>A
n.521C>A
c.170C>A (p.Pro57Gln)
c.521C>A (p.Pro174Gln)
c.1490C>A (p.Pro497Gln)
c.1466C>A (p.Pro489Gln)
c.1475C>A (p.Pro492Gln)
c.1451C>A (p.Pro484Gln)
c.1463C>A (p.Pro488Gln)
1g.16996026G>ACA338251957ATP13A2c.1492C>T (p.Pro498Ser)
c.1477C>T (p.Pro493Ser)
n.1100C>T
n.520C>T
c.169C>T (p.Pro57Ser)
c.520C>T (p.Pro174Ser)
c.1489C>T (p.Pro497Ser)
c.1465C>T (p.Pro489Ser)
c.1474C>T (p.Pro492Ser)
c.1450C>T (p.Pro484Ser)
c.1462C>T (p.Pro488Ser)
1g.16996026G>CCA338251959ATP13A2c.1492C>G (p.Pro498Ala)
c.1477C>G (p.Pro493Ala)
n.1100C>G
n.520C>G
c.169C>G (p.Pro57Ala)
c.520C>G (p.Pro174Ala)
c.1489C>G (p.Pro497Ala)
c.1465C>G (p.Pro489Ala)
c.1474C>G (p.Pro492Ala)
c.1450C>G (p.Pro484Ala)
c.1462C>G (p.Pro488Ala)
1g.16996026G=CA1156030500ATP13A2c.1492C= (p.Pro498=)
c.1477C= (p.Pro493=)
n.1100C=
n.520C=
c.169C= (p.Pro57=)
c.520C= (p.Pro174=)
c.1489C= (p.Pro497=)
c.1465C= (p.Pro489=)
c.1474C= (p.Pro492=)
c.1450C= (p.Pro484=)
c.1462C= (p.Pro488=)
1g.16996026G>TCA338251960ATP13A2c.1492C>A (p.Pro498Thr)
c.1477C>A (p.Pro493Thr)
n.1100C>A
n.520C>A
c.169C>A (p.Pro57Thr)
c.520C>A (p.Pro174Thr)
c.1489C>A (p.Pro497Thr)
c.1465C>A (p.Pro489Thr)
c.1474C>A (p.Pro492Thr)
c.1450C>A (p.Pro484Thr)
c.1462C>A (p.Pro488Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16996027G>ACA416094661ATP13A2c.1491C>T (p.His497=)
c.1476C>T (p.His492=)
n.1099C>T
n.519C>T
c.168C>T (p.His56=)
c.519C>T (p.His173=)
c.1488C>T (p.His496=)
c.1464C>T (p.His488=)
c.1473C>T (p.His491=)
c.1449C>T (p.His483=)
c.1461C>T (p.His487=)
 ClinVar COSMIC COSMIC
1g.16996027G>CCA338251962ATP13A2c.1491C>G (p.His497Gln)
c.1476C>G (p.His492Gln)
n.1099C>G
n.519C>G
c.168C>G (p.His56Gln)
c.519C>G (p.His173Gln)
c.1488C>G (p.His496Gln)
c.1464C>G (p.His488Gln)
c.1473C>G (p.His491Gln)
c.1449C>G (p.His483Gln)
c.1461C>G (p.His487Gln)
1g.16996027G>TCA338251964ATP13A2c.1491C>A (p.His497Gln)
c.1476C>A (p.His492Gln)
n.1099C>A
n.519C>A
c.168C>A (p.His56Gln)
c.519C>A (p.His173Gln)
c.1488C>A (p.His496Gln)
c.1464C>A (p.His488Gln)
c.1473C>A (p.His491Gln)
c.1449C>A (p.His483Gln)
c.1461C>A (p.His487Gln)
1g.16996028T>ACA338251968ATP13A2c.1490A>T (p.His497Leu)
c.1475A>T (p.His492Leu)
n.1098A>T
n.518A>T
c.167A>T (p.His56Leu)
c.518A>T (p.His173Leu)
c.1487A>T (p.His496Leu)
c.1463A>T (p.His488Leu)
c.1472A>T (p.His491Leu)
c.1448A>T (p.His483Leu)
c.1460A>T (p.His487Leu)
1g.16996028T>CCA338251973ATP13A2c.1490A>G (p.His497Arg)
c.1475A>G (p.His492Arg)
n.1098A>G
n.518A>G
c.167A>G (p.His56Arg)
c.518A>G (p.His173Arg)
c.1487A>G (p.His496Arg)
c.1463A>G (p.His488Arg)
c.1472A>G (p.His491Arg)
c.1448A>G (p.His483Arg)
c.1460A>G (p.His487Arg)
1g.16996028T>GCA338251971ATP13A2c.1490A>C (p.His497Pro)
c.1475A>C (p.His492Pro)
n.1098A>C
n.518A>C
c.167A>C (p.His56Pro)
c.518A>C (p.His173Pro)
c.1487A>C (p.His496Pro)
c.1463A>C (p.His488Pro)
c.1472A>C (p.His491Pro)
c.1448A>C (p.His483Pro)
c.1460A>C (p.His487Pro)
1g.16996029G>ACA637196ATP13A2c.1489C>T (p.His497Tyr)
c.1474C>T (p.His492Tyr)
n.1097C>T
n.517C>T
c.166C>T (p.His56Tyr)
c.517C>T (p.His173Tyr)
c.1486C>T (p.His496Tyr)
c.1462C>T (p.His488Tyr)
c.1471C>T (p.His491Tyr)
c.1447C>T (p.His483Tyr)
c.1459C>T (p.His487Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996029G>CCA338251976ATP13A2c.1489C>G (p.His497Asp)
c.1474C>G (p.His492Asp)
n.1097C>G
n.517C>G
c.166C>G (p.His56Asp)
c.517C>G (p.His173Asp)
c.1486C>G (p.His496Asp)
c.1462C>G (p.His488Asp)
c.1471C>G (p.His491Asp)
c.1447C>G (p.His483Asp)
c.1459C>G (p.His487Asp)
1g.16996029G=CA1156030504ATP13A2c.1489C= (p.His497=)
c.1474C= (p.His492=)
n.1097C=
n.517C=
c.166C= (p.His56=)
c.517C= (p.His173=)
c.1486C= (p.His496=)
c.1462C= (p.His488=)
c.1471C= (p.His491=)
c.1447C= (p.His483=)
c.1459C= (p.His487=)
1g.16996029G>TCA338251977ATP13A2c.1489C>A (p.His497Asn)
c.1474C>A (p.His492Asn)
n.1097C>A
n.517C>A
c.166C>A (p.His56Asn)
c.517C>A (p.His173Asn)
c.1486C>A (p.His496Asn)
c.1462C>A (p.His488Asn)
c.1471C>A (p.His491Asn)
c.1447C>A (p.His483Asn)
c.1459C>A (p.His487Asn)
1g.16996030G>ACA416094670ATP13A2c.1488C>T (p.Ile496=)
c.1473C>T (p.Ile491=)
n.1096C>T
n.516C>T
c.165C>T (p.Ile55=)
c.516C>T (p.Ile172=)
c.1485C>T (p.Ile495=)
c.1461C>T (p.Ile487=)
c.1470C>T (p.Ile490=)
c.1446C>T (p.Ile482=)
c.1458C>T (p.Ile486=)
 gnomAD v4
1g.16996030G>CCA338251978ATP13A2c.1488C>G (p.Ile496Met)
c.1473C>G (p.Ile491Met)
n.1096C>G
n.516C>G
c.165C>G (p.Ile55Met)
c.516C>G (p.Ile172Met)
c.1485C>G (p.Ile495Met)
c.1461C>G (p.Ile487Met)
c.1470C>G (p.Ile490Met)
c.1446C>G (p.Ile482Met)
c.1458C>G (p.Ile486Met)
1g.16996030G>TCA416094675ATP13A2c.1488C>A (p.Ile496=)
c.1473C>A (p.Ile491=)
n.1096C>A
n.516C>A
c.165C>A (p.Ile55=)
c.516C>A (p.Ile172=)
c.1485C>A (p.Ile495=)
c.1461C>A (p.Ile487=)
c.1470C>A (p.Ile490=)
c.1446C>A (p.Ile482=)
c.1458C>A (p.Ile486=)
1g.16996031A>CCA338251979ATP13A2c.1487T>G (p.Ile496Ser)
c.1472T>G (p.Ile491Ser)
n.1095T>G
n.515T>G
c.164T>G (p.Ile55Ser)
c.515T>G (p.Ile172Ser)
c.1484T>G (p.Ile495Ser)
c.1460T>G (p.Ile487Ser)
c.1469T>G (p.Ile490Ser)
c.1445T>G (p.Ile482Ser)
c.1457T>G (p.Ile486Ser)
1g.16996031A>GCA338251980ATP13A2c.1487T>C (p.Ile496Thr)
c.1472T>C (p.Ile491Thr)
n.1095T>C
n.515T>C
c.164T>C (p.Ile55Thr)
c.515T>C (p.Ile172Thr)
c.1484T>C (p.Ile495Thr)
c.1460T>C (p.Ile487Thr)
c.1469T>C (p.Ile490Thr)
c.1445T>C (p.Ile482Thr)
c.1457T>C (p.Ile486Thr)
1g.16996031A>TCA338251981ATP13A2c.1487T>A (p.Ile496Asn)
c.1472T>A (p.Ile491Asn)
n.1095T>A
n.515T>A
c.164T>A (p.Ile55Asn)
c.515T>A (p.Ile172Asn)
c.1484T>A (p.Ile495Asn)
c.1460T>A (p.Ile487Asn)
c.1469T>A (p.Ile490Asn)
c.1445T>A (p.Ile482Asn)
c.1457T>A (p.Ile486Asn)
1g.16996032T>ACA338251983ATP13A2c.1486A>T (p.Ile496Phe)
c.1471A>T (p.Ile491Phe)
n.1094A>T
n.514A>T
c.163A>T (p.Ile55Phe)
c.514A>T (p.Ile172Phe)
c.1483A>T (p.Ile495Phe)
c.1459A>T (p.Ile487Phe)
c.1468A>T (p.Ile490Phe)
c.1444A>T (p.Ile482Phe)
c.1456A>T (p.Ile486Phe)
1g.16996032T>CCA338251987ATP13A2c.1486A>G (p.Ile496Val)
c.1471A>G (p.Ile491Val)
n.1094A>G
n.514A>G
c.163A>G (p.Ile55Val)
c.514A>G (p.Ile172Val)
c.1483A>G (p.Ile495Val)
c.1459A>G (p.Ile487Val)
c.1468A>G (p.Ile490Val)
c.1444A>G (p.Ile482Val)
c.1456A>G (p.Ile486Val)
1g.16996032T>GCA338251990ATP13A2c.1486A>C (p.Ile496Leu)
c.1471A>C (p.Ile491Leu)
n.1094A>C
n.514A>C
c.163A>C (p.Ile55Leu)
c.514A>C (p.Ile172Leu)
c.1483A>C (p.Ile495Leu)
c.1459A>C (p.Ile487Leu)
c.1468A>C (p.Ile490Leu)
c.1444A>C (p.Ile482Leu)
c.1456A>C (p.Ile486Leu)
1g.16996033G>ACA416094684ATP13A2c.1485C>T (p.Cys495=)
c.1470C>T (p.Cys490=)
n.1093C>T
n.513C>T
c.162C>T (p.Cys54=)
c.513C>T (p.Cys171=)
c.1482C>T (p.Cys494=)
c.1458C>T (p.Cys486=)
c.1467C>T (p.Cys489=)
c.1443C>T (p.Cys481=)
c.1455C>T (p.Cys485=)
 gnomAD v4
1g.16996033G>CCA338251992ATP13A2c.1485C>G (p.Cys495Trp)
c.1470C>G (p.Cys490Trp)
n.1093C>G
n.513C>G
c.162C>G (p.Cys54Trp)
c.513C>G (p.Cys171Trp)
c.1482C>G (p.Cys494Trp)
c.1458C>G (p.Cys486Trp)
c.1467C>G (p.Cys489Trp)
c.1443C>G (p.Cys481Trp)
c.1455C>G (p.Cys485Trp)
1g.16996033G>TCA338252005ATP13A2c.1485C>A (p.Cys495Ter)
c.1470C>A (p.Cys490Ter)
n.1093C>A
n.513C>A
c.162C>A (p.Cys54Ter)
c.513C>A (p.Cys171Ter)
c.1482C>A (p.Cys494Ter)
c.1458C>A (p.Cys486Ter)
c.1467C>A (p.Cys489Ter)
c.1443C>A (p.Cys481Ter)
c.1455C>A (p.Cys485Ter)
1g.16996034C>ACA338252016ATP13A2c.1484G>T (p.Cys495Phe)
c.1469G>T (p.Cys490Phe)
n.1092G>T
n.512G>T
c.161G>T (p.Cys54Phe)
n.572G>T
c.512G>T (p.Cys171Phe)
c.1481G>T (p.Cys494Phe)
c.1457G>T (p.Cys486Phe)
c.1466G>T (p.Cys489Phe)
c.1442G>T (p.Cys481Phe)
c.1454G>T (p.Cys485Phe)
1g.16996034C>GCA338252019ATP13A2c.1484G>C (p.Cys495Ser)
c.1469G>C (p.Cys490Ser)
n.1092G>C
n.512G>C
c.161G>C (p.Cys54Ser)
n.572G>C
c.512G>C (p.Cys171Ser)
c.1481G>C (p.Cys494Ser)
c.1457G>C (p.Cys486Ser)
c.1466G>C (p.Cys489Ser)
c.1442G>C (p.Cys481Ser)
c.1454G>C (p.Cys485Ser)
1g.16996034C>TCA338252013ATP13A2c.1484G>A (p.Cys495Tyr)
c.1469G>A (p.Cys490Tyr)
n.1092G>A
n.512G>A
c.161G>A (p.Cys54Tyr)
n.572G>A
c.512G>A (p.Cys171Tyr)
c.1481G>A (p.Cys494Tyr)
c.1457G>A (p.Cys486Tyr)
c.1466G>A (p.Cys489Tyr)
c.1442G>A (p.Cys481Tyr)
c.1454G>A (p.Cys485Tyr)
1g.16996035A>CCA338252023ATP13A2c.1483T>G (p.Cys495Gly)
c.1468T>G (p.Cys490Gly)
n.1091T>G
n.511T>G
c.160T>G (p.Cys54Gly)
n.571T>G
c.511T>G (p.Cys171Gly)
c.1480T>G (p.Cys494Gly)
c.1456T>G (p.Cys486Gly)
c.1465T>G (p.Cys489Gly)
c.1441T>G (p.Cys481Gly)
c.1453T>G (p.Cys485Gly)
1g.16996035A>GCA338252025ATP13A2c.1483T>C (p.Cys495Arg)
c.1468T>C (p.Cys490Arg)
n.1091T>C
n.511T>C
c.160T>C (p.Cys54Arg)
n.571T>C
c.511T>C (p.Cys171Arg)
c.1480T>C (p.Cys494Arg)
c.1456T>C (p.Cys486Arg)
c.1465T>C (p.Cys489Arg)
c.1441T>C (p.Cys481Arg)
c.1453T>C (p.Cys485Arg)
1g.16996035A>TCA338252027ATP13A2c.1483T>A (p.Cys495Ser)
c.1468T>A (p.Cys490Ser)
n.1091T>A
n.511T>A
c.160T>A (p.Cys54Ser)
n.571T>A
c.511T>A (p.Cys171Ser)
c.1480T>A (p.Cys494Ser)
c.1456T>A (p.Cys486Ser)
c.1465T>A (p.Cys489Ser)
c.1441T>A (p.Cys481Ser)
c.1453T>A (p.Cys485Ser)
1g.16996036G>ACA416094692ATP13A2c.1482C>T (p.Phe494=)
c.1467C>T (p.Phe489=)
n.1090C>T
n.510C>T
c.159C>T (p.Phe53=)
n.570C>T
c.510C>T (p.Phe170=)
c.1479C>T (p.Phe493=)
c.1455C>T (p.Phe485=)
c.1464C>T (p.Phe488=)
c.1440C>T (p.Phe480=)
c.1452C>T (p.Phe484=)
1g.16996036G>CCA338252029ATP13A2c.1482C>G (p.Phe494Leu)
c.1467C>G (p.Phe489Leu)
n.1090C>G
n.510C>G
c.159C>G (p.Phe53Leu)
n.570C>G
c.510C>G (p.Phe170Leu)
c.1479C>G (p.Phe493Leu)
c.1455C>G (p.Phe485Leu)
c.1464C>G (p.Phe488Leu)
c.1440C>G (p.Phe480Leu)
c.1452C>G (p.Phe484Leu)
1g.16996036G>TCA338252033ATP13A2c.1482C>A (p.Phe494Leu)
c.1467C>A (p.Phe489Leu)
n.1090C>A
n.510C>A
c.159C>A (p.Phe53Leu)
n.570C>A
c.510C>A (p.Phe170Leu)
c.1479C>A (p.Phe493Leu)
c.1455C>A (p.Phe485Leu)
c.1464C>A (p.Phe488Leu)
c.1440C>A (p.Phe480Leu)
c.1452C>A (p.Phe484Leu)
1g.16996037_16996042delCA2574234394ATP13A2c.1477_1482del (p.Ile493_Phe494del)
c.1462_1467del (p.Ile488_Phe489del)
n.1085_1090del
n.505_510del
c.154_159del (p.Ile52_Phe53del)
n.565_570del
c.505_510del (p.Ile169_Phe170del)
c.1474_1479del (p.Ile492_Phe493del)
c.1450_1455del (p.Ile484_Phe485del)
c.1459_1464del (p.Ile487_Phe488del)
c.1435_1440del (p.Ile479_Phe480del)
c.1447_1452del (p.Ile483_Phe484del)
 gnomAD v4
1g.16996037A>CCA338252047ATP13A2c.1481T>G (p.Phe494Cys)
c.1466T>G (p.Phe489Cys)
n.1089T>G
n.509T>G
c.158T>G (p.Phe53Cys)
n.569T>G
c.509T>G (p.Phe170Cys)
c.1478T>G (p.Phe493Cys)
c.1454T>G (p.Phe485Cys)
c.1463T>G (p.Phe488Cys)
c.1439T>G (p.Phe480Cys)
c.1451T>G (p.Phe484Cys)
1g.16996037A>GCA338252046ATP13A2c.1481T>C (p.Phe494Ser)
c.1466T>C (p.Phe489Ser)
n.1089T>C
n.509T>C
c.158T>C (p.Phe53Ser)
n.569T>C
c.509T>C (p.Phe170Ser)
c.1478T>C (p.Phe493Ser)
c.1454T>C (p.Phe485Ser)
c.1463T>C (p.Phe488Ser)
c.1439T>C (p.Phe480Ser)
c.1451T>C (p.Phe484Ser)
1g.16996037A>TCA338252044ATP13A2c.1481T>A (p.Phe494Tyr)
c.1466T>A (p.Phe489Tyr)
n.1089T>A
n.509T>A
c.158T>A (p.Phe53Tyr)
n.569T>A
c.509T>A (p.Phe170Tyr)
c.1478T>A (p.Phe493Tyr)
c.1454T>A (p.Phe485Tyr)
c.1463T>A (p.Phe488Tyr)
c.1439T>A (p.Phe480Tyr)
c.1451T>A (p.Phe484Tyr)
1g.16996040delCA2574234397ATP13A2c.1481del (p.Phe494SerfsTer30)
c.1466del (p.Phe489SerfsTer30)
n.1089del
n.509del
c.158del (p.Phe53SerfsTer?)
n.569del
c.509del (p.Phe170SerfsTer?)
c.1478del (p.Phe493SerfsTer30)
c.1454del (p.Phe485SerfsTer30)
c.1463del (p.Phe488SerfsTer30)
c.1439del (p.Phe480SerfsTer30)
c.1481del (p.Phe494SerfsTer16)
c.1481del (p.Phe494SerfsTer?)
c.1451del (p.Phe484SerfsTer16)
1g.16996038A>CCA338252052ATP13A2c.1480T>G (p.Phe494Val)
c.1465T>G (p.Phe489Val)
n.1088T>G
n.508T>G
c.157T>G (p.Phe53Val)
n.568T>G
c.508T>G (p.Phe170Val)
c.1477T>G (p.Phe493Val)
c.1453T>G (p.Phe485Val)
c.1462T>G (p.Phe488Val)
c.1438T>G (p.Phe480Val)
c.1450T>G (p.Phe484Val)
1g.16996038A>GCA338252059ATP13A2c.1480T>C (p.Phe494Leu)
c.1465T>C (p.Phe489Leu)
n.1088T>C
n.508T>C
c.157T>C (p.Phe53Leu)
n.568T>C
c.508T>C (p.Phe170Leu)
c.1477T>C (p.Phe493Leu)
c.1453T>C (p.Phe485Leu)
c.1462T>C (p.Phe488Leu)
c.1438T>C (p.Phe480Leu)
c.1450T>C (p.Phe484Leu)
1g.16996038A>TCA338252062ATP13A2c.1480T>A (p.Phe494Ile)
c.1465T>A (p.Phe489Ile)
n.1088T>A
n.508T>A
c.157T>A (p.Phe53Ile)
n.568T>A
c.508T>A (p.Phe170Ile)
c.1477T>A (p.Phe493Ile)
c.1453T>A (p.Phe485Ile)
c.1462T>A (p.Phe488Ile)
c.1438T>A (p.Phe480Ile)
c.1450T>A (p.Phe484Ile)
1g.16996039A>CCA338252064ATP13A2c.1479T>G (p.Ile493Met)
c.1464T>G (p.Ile488Met)
n.1087T>G
n.507T>G
c.156T>G (p.Ile52Met)
n.567T>G
c.507T>G (p.Ile169Met)
c.1476T>G (p.Ile492Met)
c.1452T>G (p.Ile484Met)
c.1461T>G (p.Ile487Met)
c.1437T>G (p.Ile479Met)
c.1449T>G (p.Ile483Met)
1g.16996039A>GCA416094707ATP13A2c.1479T>C (p.Ile493=)
c.1464T>C (p.Ile488=)
n.1087T>C
n.507T>C
c.156T>C (p.Ile52=)
n.567T>C
c.507T>C (p.Ile169=)
c.1476T>C (p.Ile492=)
c.1452T>C (p.Ile484=)
c.1461T>C (p.Ile487=)
c.1437T>C (p.Ile479=)
c.1449T>C (p.Ile483=)
 gnomAD v4
1g.16996039A>TCA416094705ATP13A2c.1479T>A (p.Ile493=)
c.1464T>A (p.Ile488=)
n.1087T>A
n.507T>A
c.156T>A (p.Ile52=)
n.567T>A
c.507T>A (p.Ile169=)
c.1476T>A (p.Ile492=)
c.1452T>A (p.Ile484=)
c.1461T>A (p.Ile487=)
c.1437T>A (p.Ile479=)
c.1449T>A (p.Ile483=)
1g.16996040A>CCA338252067ATP13A2c.1478T>G (p.Ile493Ser)
c.1463T>G (p.Ile488Ser)
n.1086T>G
n.506T>G
c.155T>G (p.Ile52Ser)
n.566T>G
c.506T>G (p.Ile169Ser)
c.1475T>G (p.Ile492Ser)
c.1451T>G (p.Ile484Ser)
c.1460T>G (p.Ile487Ser)
c.1436T>G (p.Ile479Ser)
c.1448T>G (p.Ile483Ser)
1g.16996040A>GCA338252069ATP13A2c.1478T>C (p.Ile493Thr)
c.1463T>C (p.Ile488Thr)
n.1086T>C
n.506T>C
c.155T>C (p.Ile52Thr)
n.566T>C
c.506T>C (p.Ile169Thr)
c.1475T>C (p.Ile492Thr)
c.1451T>C (p.Ile484Thr)
c.1460T>C (p.Ile487Thr)
c.1436T>C (p.Ile479Thr)
c.1448T>C (p.Ile483Thr)
1g.16996040A>TCA338252070ATP13A2c.1478T>A (p.Ile493Asn)
c.1463T>A (p.Ile488Asn)
n.1086T>A
n.506T>A
c.155T>A (p.Ile52Asn)
n.566T>A
c.506T>A (p.Ile169Asn)
c.1475T>A (p.Ile492Asn)
c.1451T>A (p.Ile484Asn)
c.1460T>A (p.Ile487Asn)
c.1436T>A (p.Ile479Asn)
c.1448T>A (p.Ile483Asn)
1g.16996041T>ACA338252081ATP13A2c.1477A>T (p.Ile493Phe)
c.1462A>T (p.Ile488Phe)
n.1085A>T
n.505A>T
c.154A>T (p.Ile52Phe)
n.565A>T
c.505A>T (p.Ile169Phe)
c.1474A>T (p.Ile492Phe)
c.1450A>T (p.Ile484Phe)
c.1459A>T (p.Ile487Phe)
c.1435A>T (p.Ile479Phe)
c.1447A>T (p.Ile483Phe)
1g.16996041T>CCA338252090ATP13A2c.1477A>G (p.Ile493Val)
c.1462A>G (p.Ile488Val)
n.1085A>G
n.505A>G
c.154A>G (p.Ile52Val)
n.565A>G
c.505A>G (p.Ile169Val)
c.1474A>G (p.Ile492Val)
c.1450A>G (p.Ile484Val)
c.1459A>G (p.Ile487Val)
c.1435A>G (p.Ile479Val)
c.1447A>G (p.Ile483Val)
1g.16996041T>GCA338252082ATP13A2c.1477A>C (p.Ile493Leu)
c.1462A>C (p.Ile488Leu)
n.1085A>C
n.505A>C
c.154A>C (p.Ile52Leu)
n.565A>C
c.505A>C (p.Ile169Leu)
c.1474A>C (p.Ile492Leu)
c.1450A>C (p.Ile484Leu)
c.1459A>C (p.Ile487Leu)
c.1435A>C (p.Ile479Leu)
c.1447A>C (p.Ile483Leu)
 ClinVar dbSNP gnomAD v4
1g.16996041T=CA1156030507ATP13A2c.1477A= (p.Ile493=)
c.1462A= (p.Ile488=)
n.1085A=
n.505A=
c.154A= (p.Ile52=)
n.565A=
c.505A= (p.Ile169=)
c.1474A= (p.Ile492=)
c.1450A= (p.Ile484=)
c.1459A= (p.Ile487=)
c.1435A= (p.Ile479=)
c.1447A= (p.Ile483=)
1g.16996042G>ACA416094713ATP13A2c.1476C>T (p.Gly492=)
c.1461C>T (p.Gly487=)
n.1084C>T
n.504C>T
c.153C>T (p.Gly51=)
n.564C>T
c.504C>T (p.Gly168=)
c.1473C>T (p.Gly491=)
c.1449C>T (p.Gly483=)
c.1458C>T (p.Gly486=)
c.1434C>T (p.Gly478=)
c.1446C>T (p.Gly482=)
 gnomAD v4
1g.16996042G>CCA416094716ATP13A2c.1476C>G (p.Gly492=)
c.1461C>G (p.Gly487=)
n.1084C>G
n.504C>G
c.153C>G (p.Gly51=)
n.564C>G
c.504C>G (p.Gly168=)
c.1473C>G (p.Gly491=)
c.1449C>G (p.Gly483=)
c.1458C>G (p.Gly486=)
c.1434C>G (p.Gly478=)
c.1446C>G (p.Gly482=)
1g.16996042G>TCA416094714ATP13A2c.1476C>A (p.Gly492=)
c.1461C>A (p.Gly487=)
n.1084C>A
n.504C>A
c.153C>A (p.Gly51=)
n.564C>A
c.504C>A (p.Gly168=)
c.1473C>A (p.Gly491=)
c.1449C>A (p.Gly483=)
c.1458C>A (p.Gly486=)
c.1434C>A (p.Gly478=)
c.1446C>A (p.Gly482=)
1g.16996043C>ACA338252094ATP13A2c.1475G>T (p.Gly492Val)
c.1460G>T (p.Gly487Val)
n.1083G>T
n.503G>T
c.152G>T (p.Gly51Val)
n.563G>T
c.503G>T (p.Gly168Val)
c.1472G>T (p.Gly491Val)
c.1448G>T (p.Gly483Val)
c.1457G>T (p.Gly486Val)
c.1433G>T (p.Gly478Val)
c.1445G>T (p.Gly482Val)
1g.16996043C>GCA338252121ATP13A2c.1475G>C (p.Gly492Ala)
c.1460G>C (p.Gly487Ala)
n.1083G>C
n.503G>C
c.152G>C (p.Gly51Ala)
n.563G>C
c.503G>C (p.Gly168Ala)
c.1472G>C (p.Gly491Ala)
c.1448G>C (p.Gly483Ala)
c.1457G>C (p.Gly486Ala)
c.1433G>C (p.Gly478Ala)
c.1445G>C (p.Gly482Ala)
1g.16996043C>TCA338252123ATP13A2c.1475G>A (p.Gly492Asp)
c.1460G>A (p.Gly487Asp)
n.1083G>A
n.503G>A
c.152G>A (p.Gly51Asp)
n.563G>A
c.503G>A (p.Gly168Asp)
c.1472G>A (p.Gly491Asp)
c.1448G>A (p.Gly483Asp)
c.1457G>A (p.Gly486Asp)
c.1433G>A (p.Gly478Asp)
c.1445G>A (p.Gly482Asp)
1g.16996044C>ACA338252129ATP13A2c.1474G>T (p.Gly492Cys)
c.1459G>T (p.Gly487Cys)
n.1082G>T
n.502G>T
c.151G>T (p.Gly51Cys)
n.562G>T
c.502G>T (p.Gly168Cys)
c.1471G>T (p.Gly491Cys)
c.1447G>T (p.Gly483Cys)
c.1456G>T (p.Gly486Cys)
c.1432G>T (p.Gly478Cys)
c.1444G>T (p.Gly482Cys)
 dbSNP
1g.16996044C=CA1156030512ATP13A2c.1474G= (p.Gly492=)
c.1459G= (p.Gly487=)
n.1082G=
n.502G=
c.151G= (p.Gly51=)
n.562G=
c.502G= (p.Gly168=)
c.1471G= (p.Gly491=)
c.1447G= (p.Gly483=)
c.1456G= (p.Gly486=)
c.1432G= (p.Gly478=)
c.1444G= (p.Gly482=)
1g.16996044C>GCA338252132ATP13A2c.1474G>C (p.Gly492Arg)
c.1459G>C (p.Gly487Arg)
n.1082G>C
n.502G>C
c.151G>C (p.Gly51Arg)
n.562G>C
c.502G>C (p.Gly168Arg)
c.1471G>C (p.Gly491Arg)
c.1447G>C (p.Gly483Arg)
c.1456G>C (p.Gly486Arg)
c.1432G>C (p.Gly478Arg)
c.1444G>C (p.Gly482Arg)
1g.16996044C>TCA338252135ATP13A2c.1474G>A (p.Gly492Ser)
c.1459G>A (p.Gly487Ser)
n.1082G>A
n.502G>A
c.151G>A (p.Gly51Ser)
n.562G>A
c.502G>A (p.Gly168Ser)
c.1471G>A (p.Gly491Ser)
c.1447G>A (p.Gly483Ser)
c.1456G>A (p.Gly486Ser)
c.1432G>A (p.Gly478Ser)
c.1444G>A (p.Gly482Ser)
1g.16996044_16996046delinsCCTCA1156030511ATP13A2c.1472_1474delinsAGG (p.Gln491=)
c.1457_1459delinsAGG (p.Gln486=)
n.1080_1082delinsAGG
n.500_502delinsAGG
c.149_151delinsAGG (p.Gln50=)
n.560_562delinsAGG
c.500_502delinsAGG (p.Gln167=)
c.1469_1471delinsAGG (p.Gln490=)
c.1445_1447delinsAGG (p.Gln482=)
c.1454_1456delinsAGG (p.Gln485=)
c.1430_1432delinsAGG (p.Gln477=)
c.1442_1444delinsAGG (p.Gln481=)
1g.16996045C>ACA338252143ATP13A2c.1473G>T (p.Gln491His)
c.1458G>T (p.Gln486His)
n.1081G>T
n.501G>T
c.150G>T (p.Gln50His)
n.561G>T
c.501G>T (p.Gln167His)
c.1470G>T (p.Gln490His)
c.1446G>T (p.Gln482His)
c.1455G>T (p.Gln485His)
c.1431G>T (p.Gln477His)
c.1443G>T (p.Gln481His)
1g.16996045C>GCA338252149ATP13A2c.1473G>C (p.Gln491His)
c.1458G>C (p.Gln486His)
n.1081G>C
n.501G>C
c.150G>C (p.Gln50His)
n.561G>C
c.501G>C (p.Gln167His)
c.1470G>C (p.Gln490His)
c.1446G>C (p.Gln482His)
c.1455G>C (p.Gln485His)
c.1431G>C (p.Gln477His)
c.1443G>C (p.Gln481His)
1g.16996045C>TCA416094726ATP13A2c.1473G>A (p.Gln491=)
c.1458G>A (p.Gln486=)
n.1081G>A
n.501G>A
c.150G>A (p.Gln50=)
n.561G>A
c.501G>A (p.Gln167=)
c.1470G>A (p.Gln490=)
c.1446G>A (p.Gln482=)
c.1455G>A (p.Gln485=)
c.1431G>A (p.Gln477=)
c.1443G>A (p.Gln481=)
1g.16996045_16996046delCA637197ATP13A2c.1472_1473del (p.Gln491ArgfsTer29)
c.1457_1458del (p.Gln486ArgfsTer29)
n.1080_1081del
n.500_501del
c.149_150del (p.Gln50ArgfsTer?)
n.560_561del
c.500_501del (p.Gln167ArgfsTer?)
c.1469_1470del (p.Gln490ArgfsTer29)
c.1445_1446del (p.Gln482ArgfsTer29)
c.1454_1455del (p.Gln485ArgfsTer29)
c.1430_1431del (p.Gln477ArgfsTer29)
c.1472_1473del (p.Gln491ArgfsTer24)
c.1472_1473del (p.Gln491ArgfsTer?)
c.1442_1443del (p.Gln481ArgfsTer24)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.16996046T>ACA338252152ATP13A2c.1472A>T (p.Gln491Leu)
c.1457A>T (p.Gln486Leu)
n.1080A>T
n.500A>T
c.149A>T (p.Gln50Leu)
n.560A>T
c.500A>T (p.Gln167Leu)
c.1469A>T (p.Gln490Leu)
c.1445A>T (p.Gln482Leu)
c.1454A>T (p.Gln485Leu)
c.1430A>T (p.Gln477Leu)
c.1442A>T (p.Gln481Leu)
1g.16996046T>CCA338252153ATP13A2c.1472A>G (p.Gln491Arg)
c.1457A>G (p.Gln486Arg)
n.1080A>G
n.500A>G
c.149A>G (p.Gln50Arg)
n.560A>G
c.500A>G (p.Gln167Arg)
c.1469A>G (p.Gln490Arg)
c.1445A>G (p.Gln482Arg)
c.1454A>G (p.Gln485Arg)
c.1430A>G (p.Gln477Arg)
c.1442A>G (p.Gln481Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.16996046T>GCA338252154ATP13A2c.1472A>C (p.Gln491Pro)
c.1457A>C (p.Gln486Pro)
n.1080A>C
n.500A>C
c.149A>C (p.Gln50Pro)
n.560A>C
c.500A>C (p.Gln167Pro)
c.1469A>C (p.Gln490Pro)
c.1445A>C (p.Gln482Pro)
c.1454A>C (p.Gln485Pro)
c.1430A>C (p.Gln477Pro)
c.1442A>C (p.Gln481Pro)
 gnomAD v4
1g.16996046T=CA1156030517ATP13A2c.1472A= (p.Gln491=)
c.1457A= (p.Gln486=)
n.1080A=
n.500A=
c.149A= (p.Gln50=)
n.560A=
c.500A= (p.Gln167=)
c.1469A= (p.Gln490=)
c.1445A= (p.Gln482=)
c.1454A= (p.Gln485=)
c.1430A= (p.Gln477=)
c.1442A= (p.Gln481=)
1g.16996047G>ACA338252155ATP13A2c.1471C>T (p.Gln491Ter)
c.1456C>T (p.Gln486Ter)
n.1079C>T
n.499C>T
c.148C>T (p.Gln50Ter)
n.559C>T
c.499C>T (p.Gln167Ter)
c.1468C>T (p.Gln490Ter)
c.1444C>T (p.Gln482Ter)
c.1453C>T (p.Gln485Ter)
c.1429C>T (p.Gln477Ter)
c.1441C>T (p.Gln481Ter)
1g.16996047G>CCA338252159ATP13A2c.1471C>G (p.Gln491Glu)
c.1456C>G (p.Gln486Glu)
n.1079C>G
n.499C>G
c.148C>G (p.Gln50Glu)
n.559C>G
c.499C>G (p.Gln167Glu)
c.1468C>G (p.Gln490Glu)
c.1444C>G (p.Gln482Glu)
c.1453C>G (p.Gln485Glu)
c.1429C>G (p.Gln477Glu)
c.1441C>G (p.Gln481Glu)
1g.16996047G>TCA338252156ATP13A2c.1471C>A (p.Gln491Lys)
c.1456C>A (p.Gln486Lys)
n.1079C>A
n.499C>A
c.148C>A (p.Gln50Lys)
n.559C>A
c.499C>A (p.Gln167Lys)
c.1468C>A (p.Gln490Lys)
c.1444C>A (p.Gln482Lys)
c.1453C>A (p.Gln485Lys)
c.1429C>A (p.Gln477Lys)
c.1441C>A (p.Gln481Lys)
1g.16996048T>ACA338252160ATP13A2c.1470A>T (p.Arg490Ser)
c.1455A>T (p.Arg485Ser)
n.1078A>T
n.498A>T
c.147A>T (p.Arg49Ser)
n.558A>T
c.498A>T (p.Arg166Ser)
c.1467A>T (p.Arg489Ser)
c.1443A>T (p.Arg481Ser)
c.1452A>T (p.Arg484Ser)
c.1428A>T (p.Arg476Ser)
c.1440A>T (p.Arg480Ser)
1g.16996048T>CCA416094732ATP13A2c.1470A>G (p.Arg490=)
c.1455A>G (p.Arg485=)
n.1078A>G
n.498A>G
c.147A>G (p.Arg49=)
n.558A>G
c.498A>G (p.Arg166=)
c.1467A>G (p.Arg489=)
c.1443A>G (p.Arg481=)
c.1452A>G (p.Arg484=)
c.1428A>G (p.Arg476=)
c.1440A>G (p.Arg480=)
1g.16996048T>GCA338252161ATP13A2c.1470A>C (p.Arg490Ser)
c.1455A>C (p.Arg485Ser)
n.1078A>C
n.498A>C
c.147A>C (p.Arg49Ser)
n.558A>C
c.498A>C (p.Arg166Ser)
c.1467A>C (p.Arg489Ser)
c.1443A>C (p.Arg481Ser)
c.1452A>C (p.Arg484Ser)
c.1428A>C (p.Arg476Ser)
c.1440A>C (p.Arg480Ser)
1g.16996049C>ACA338252164ATP13A2c.1469G>T (p.Arg490Ile)
c.1454G>T (p.Arg485Ile)
n.1077G>T
n.497G>T
c.146G>T (p.Arg49Ile)
n.557G>T
c.497G>T (p.Arg166Ile)
c.1466G>T (p.Arg489Ile)
c.1442G>T (p.Arg481Ile)
c.1451G>T (p.Arg484Ile)
c.1427G>T (p.Arg476Ile)
c.1439G>T (p.Arg480Ile)
1g.16996049C>GCA338252166ATP13A2c.1469G>C (p.Arg490Thr)
c.1454G>C (p.Arg485Thr)
n.1077G>C
n.497G>C
c.146G>C (p.Arg49Thr)
n.557G>C
c.497G>C (p.Arg166Thr)
c.1466G>C (p.Arg489Thr)
c.1442G>C (p.Arg481Thr)
c.1451G>C (p.Arg484Thr)
c.1427G>C (p.Arg476Thr)
c.1439G>C (p.Arg480Thr)
1g.16996049C>TCA338252167ATP13A2c.1469G>A (p.Arg490Lys)
c.1454G>A (p.Arg485Lys)
n.1077G>A
n.497G>A
c.146G>A (p.Arg49Lys)
n.557G>A
c.497G>A (p.Arg166Lys)
c.1466G>A (p.Arg489Lys)
c.1442G>A (p.Arg481Lys)
c.1451G>A (p.Arg484Lys)
c.1427G>A (p.Arg476Lys)
c.1439G>A (p.Arg480Lys)
 gnomAD v4
1g.16996050T>ACA338252169ATP13A2c.1468A>T (p.Arg490Ter)
c.1453A>T (p.Arg485Ter)
n.1076A>T
n.496A>T
c.145A>T (p.Arg49Ter)
n.556A>T
c.496A>T (p.Arg166Ter)
c.1465A>T (p.Arg489Ter)
c.1441A>T (p.Arg481Ter)
c.1450A>T (p.Arg484Ter)
c.1426A>T (p.Arg476Ter)
c.1438A>T (p.Arg480Ter)
1g.16996050T>CCA338252170ATP13A2c.1468A>G (p.Arg490Gly)
c.1453A>G (p.Arg485Gly)
n.1076A>G
n.496A>G
c.145A>G (p.Arg49Gly)
n.556A>G
c.496A>G (p.Arg166Gly)
c.1465A>G (p.Arg489Gly)
c.1441A>G (p.Arg481Gly)
c.1450A>G (p.Arg484Gly)
c.1426A>G (p.Arg476Gly)
c.1438A>G (p.Arg480Gly)
1g.16996050T>GCA416094737ATP13A2c.1468A>C (p.Arg490=)
c.1453A>C (p.Arg485=)
n.1076A>C
n.496A>C
c.145A>C (p.Arg49=)
n.556A>C
c.496A>C (p.Arg166=)
c.1465A>C (p.Arg489=)
c.1441A>C (p.Arg481=)
c.1450A>C (p.Arg484=)
c.1426A>C (p.Arg476=)
c.1438A>C (p.Arg480=)
1g.16996051C>ACA416094740ATP13A2c.1467G>T (p.Arg489=)
c.1452G>T (p.Arg484=)
n.1075G>T
n.495G>T
c.144G>T (p.Arg48=)
n.555G>T
c.495G>T (p.Arg165=)
c.1464G>T (p.Arg488=)
c.1440G>T (p.Arg480=)
c.1449G>T (p.Arg483=)
c.1425G>T (p.Arg475=)
c.1437G>T (p.Arg479=)
1g.16996051C>GCA416094742ATP13A2c.1467G>C (p.Arg489=)
c.1452G>C (p.Arg484=)
n.1075G>C
n.495G>C
c.144G>C (p.Arg48=)
n.555G>C
c.495G>C (p.Arg165=)
c.1464G>C (p.Arg488=)
c.1440G>C (p.Arg480=)
c.1449G>C (p.Arg483=)
c.1425G>C (p.Arg475=)
c.1437G>C (p.Arg479=)
1g.16996051C>TCA416094743ATP13A2c.1467G>A (p.Arg489=)
c.1452G>A (p.Arg484=)
n.1075G>A
n.495G>A
c.144G>A (p.Arg48=)
n.555G>A
c.495G>A (p.Arg165=)
c.1464G>A (p.Arg488=)
c.1440G>A (p.Arg480=)
c.1449G>A (p.Arg483=)
c.1425G>A (p.Arg475=)
c.1437G>A (p.Arg479=)
1g.16996052C>ACA637199ATP13A2c.1466G>T (p.Arg489Leu)
c.1451G>T (p.Arg484Leu)
n.1074G>T
n.494G>T
c.143G>T (p.Arg48Leu)
n.554G>T
c.494G>T (p.Arg165Leu)
c.1463G>T (p.Arg488Leu)
c.1439G>T (p.Arg480Leu)
c.1448G>T (p.Arg483Leu)
c.1424G>T (p.Arg475Leu)
c.1436G>T (p.Arg479Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16996052C=CA1156030522ATP13A2c.1466G= (p.Arg489=)
c.1451G= (p.Arg484=)
n.1074G=
n.494G=
c.143G= (p.Arg48=)
n.554G=
c.494G= (p.Arg165=)
c.1463G= (p.Arg488=)
c.1439G= (p.Arg480=)
c.1448G= (p.Arg483=)
c.1424G= (p.Arg475=)
c.1436G= (p.Arg479=)
1g.16996052C>GCA338252171ATP13A2c.1466G>C (p.Arg489Pro)
c.1451G>C (p.Arg484Pro)
n.1074G>C
n.494G>C
c.143G>C (p.Arg48Pro)
n.554G>C
c.494G>C (p.Arg165Pro)
c.1463G>C (p.Arg488Pro)
c.1439G>C (p.Arg480Pro)
c.1448G>C (p.Arg483Pro)
c.1424G>C (p.Arg475Pro)
c.1436G>C (p.Arg479Pro)
1g.16996052C>TCA637198ATP13A2c.1466G>A (p.Arg489Gln)
c.1451G>A (p.Arg484Gln)
n.1074G>A
n.494G>A
c.143G>A (p.Arg48Gln)
n.554G>A
c.494G>A (p.Arg165Gln)
c.1463G>A (p.Arg488Gln)
c.1439G>A (p.Arg480Gln)
c.1448G>A (p.Arg483Gln)
c.1424G>A (p.Arg475Gln)
c.1436G>A (p.Arg479Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996053G>ACA637200ATP13A2c.1465C>T (p.Arg489Trp)
c.1450C>T (p.Arg484Trp)
n.1073C>T
n.493C>T
c.142C>T (p.Arg48Trp)
n.553C>T
c.493C>T (p.Arg165Trp)
c.1462C>T (p.Arg488Trp)
c.1438C>T (p.Arg480Trp)
c.1447C>T (p.Arg483Trp)
c.1423C>T (p.Arg475Trp)
c.1435C>T (p.Arg479Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.16996053G>CCA338252173ATP13A2c.1465C>G (p.Arg489Gly)
c.1450C>G (p.Arg484Gly)
n.1073C>G
n.493C>G
c.142C>G (p.Arg48Gly)
n.553C>G
c.493C>G (p.Arg165Gly)
c.1462C>G (p.Arg488Gly)
c.1438C>G (p.Arg480Gly)
c.1447C>G (p.Arg483Gly)
c.1423C>G (p.Arg475Gly)
c.1435C>G (p.Arg479Gly)
 dbSNP
1g.16996053G=CA1156030535ATP13A2c.1465C= (p.Arg489=)
c.1450C= (p.Arg484=)
n.1073C=
n.493C=
c.142C= (p.Arg48=)
n.553C=
c.493C= (p.Arg165=)
c.1462C= (p.Arg488=)
c.1438C= (p.Arg480=)
c.1447C= (p.Arg483=)
c.1423C= (p.Arg475=)
c.1435C= (p.Arg479=)
1g.16996053G>TCA416094744ATP13A2c.1465C>A (p.Arg489=)
c.1450C>A (p.Arg484=)
n.1073C>A
n.493C>A
c.142C>A (p.Arg48=)
n.553C>A
c.493C>A (p.Arg165=)
c.1462C>A (p.Arg488=)
c.1438C>A (p.Arg480=)
c.1447C>A (p.Arg483=)
c.1423C>A (p.Arg475=)
c.1435C>A (p.Arg479=)
 gnomAD v4
1g.16996054C>ACA416094747ATP13A2c.1464G>T (p.Leu488=)
c.1449G>T (p.Leu483=)
n.1072G>T
n.492G>T
c.141G>T (p.Leu47=)
n.552G>T
c.492G>T (p.Leu164=)
c.1461G>T (p.Leu487=)
c.1437G>T (p.Leu479=)
c.1446G>T (p.Leu482=)
c.1422G>T (p.Leu474=)
c.1434G>T (p.Leu478=)
1g.16996054C>GCA416094748ATP13A2c.1464G>C (p.Leu488=)
c.1449G>C (p.Leu483=)
n.1072G>C
n.492G>C
c.141G>C (p.Leu47=)
n.552G>C
c.492G>C (p.Leu164=)
c.1461G>C (p.Leu487=)
c.1437G>C (p.Leu479=)
c.1446G>C (p.Leu482=)
c.1422G>C (p.Leu474=)
c.1434G>C (p.Leu478=)
1g.16996054C>TCA416094749ATP13A2c.1464G>A (p.Leu488=)
c.1449G>A (p.Leu483=)
n.1072G>A
n.492G>A
c.141G>A (p.Leu47=)
n.552G>A
c.492G>A (p.Leu164=)
c.1461G>A (p.Leu487=)
c.1437G>A (p.Leu479=)
c.1446G>A (p.Leu482=)
c.1422G>A (p.Leu474=)
c.1434G>A (p.Leu478=)
1g.16996055A>CCA338252182ATP13A2c.1463T>G (p.Leu488Arg)
c.1448T>G (p.Leu483Arg)
n.1071T>G
n.491T>G
c.140T>G (p.Leu47Arg)
n.551T>G
c.491T>G (p.Leu164Arg)
c.1460T>G (p.Leu487Arg)
c.1436T>G (p.Leu479Arg)
c.1445T>G (p.Leu482Arg)
c.1421T>G (p.Leu474Arg)
c.1433T>G (p.Leu478Arg)
1g.16996055A>GCA338252181ATP13A2c.1463T>C (p.Leu488Pro)
c.1448T>C (p.Leu483Pro)
n.1071T>C
n.491T>C
c.140T>C (p.Leu47Pro)
n.551T>C
c.491T>C (p.Leu164Pro)
c.1460T>C (p.Leu487Pro)
c.1436T>C (p.Leu479Pro)
c.1445T>C (p.Leu482Pro)
c.1421T>C (p.Leu474Pro)
c.1433T>C (p.Leu478Pro)
1g.16996055A>TCA338252178ATP13A2c.1463T>A (p.Leu488Gln)
c.1448T>A (p.Leu483Gln)
n.1071T>A
n.491T>A
c.140T>A (p.Leu47Gln)
n.551T>A
c.491T>A (p.Leu164Gln)
c.1460T>A (p.Leu487Gln)
c.1436T>A (p.Leu479Gln)
c.1445T>A (p.Leu482Gln)
c.1421T>A (p.Leu474Gln)
c.1433T>A (p.Leu478Gln)
1g.16996056G>ACA416094753ATP13A2c.1462C>T (p.Leu488=)
c.1447C>T (p.Leu483=)
n.1070C>T
n.490C>T
c.139C>T (p.Leu47=)
n.550C>T
c.490C>T (p.Leu164=)
c.1459C>T (p.Leu487=)
c.1435C>T (p.Leu479=)
c.1444C>T (p.Leu482=)
c.1420C>T (p.Leu474=)
c.1432C>T (p.Leu478=)
 gnomAD v4
1g.16996056G>CCA338252184ATP13A2c.1462C>G (p.Leu488Val)
c.1447C>G (p.Leu483Val)
n.1070C>G
n.490C>G
c.139C>G (p.Leu47Val)
n.550C>G
c.490C>G (p.Leu164Val)
c.1459C>G (p.Leu487Val)
c.1435C>G (p.Leu479Val)
c.1444C>G (p.Leu482Val)
c.1420C>G (p.Leu474Val)
c.1432C>G (p.Leu478Val)
1g.16996056G>TCA338252188ATP13A2c.1462C>A (p.Leu488Met)
c.1447C>A (p.Leu483Met)
n.1070C>A
n.490C>A
c.139C>A (p.Leu47Met)
n.550C>A
c.490C>A (p.Leu164Met)
c.1459C>A (p.Leu487Met)
c.1435C>A (p.Leu479Met)
c.1444C>A (p.Leu482Met)
c.1420C>A (p.Leu474Met)
c.1432C>A (p.Leu478Met)
1g.16996057T>ACA416094754ATP13A2c.1461A>T (p.Arg487=)
c.1446A>T (p.Arg482=)
n.1069A>T
n.489A>T
c.138A>T (p.Arg46=)
n.549A>T
c.489A>T (p.Arg163=)
c.1458A>T (p.Arg486=)
c.1434A>T (p.Arg478=)
c.1443A>T (p.Arg481=)
c.1419A>T (p.Arg473=)
c.1431A>T (p.Arg477=)
1g.16996057T>CCA416094756ATP13A2c.1461A>G (p.Arg487=)
c.1446A>G (p.Arg482=)
n.1069A>G
n.489A>G
c.138A>G (p.Arg46=)
n.549A>G
c.489A>G (p.Arg163=)
c.1458A>G (p.Arg486=)
c.1434A>G (p.Arg478=)
c.1443A>G (p.Arg481=)
c.1419A>G (p.Arg473=)
c.1431A>G (p.Arg477=)
 ClinVar gnomAD v4
1g.16996057T>GCA416094755ATP13A2c.1461A>C (p.Arg487=)
c.1446A>C (p.Arg482=)
n.1069A>C
n.489A>C
c.138A>C (p.Arg46=)
n.549A>C
c.489A>C (p.Arg163=)
c.1458A>C (p.Arg486=)
c.1434A>C (p.Arg478=)
c.1443A>C (p.Arg481=)
c.1419A>C (p.Arg473=)
c.1431A>C (p.Arg477=)
1g.16996058C>ACA338252189ATP13A2c.1460G>T (p.Arg487Leu)
c.1445G>T (p.Arg482Leu)
n.1068G>T
n.488G>T
c.137G>T (p.Arg46Leu)
n.548G>T
c.488G>T (p.Arg163Leu)
c.1457G>T (p.Arg486Leu)
c.1433G>T (p.Arg478Leu)
c.1442G>T (p.Arg481Leu)
c.1418G>T (p.Arg473Leu)
c.1430G>T (p.Arg477Leu)
1g.16996058C=CA1146736584ATP13A2c.1460G= (p.Arg487=)
c.1445G= (p.Arg482=)
n.1068G=
n.488G=
c.137G= (p.Arg46=)
n.548G=
c.488G= (p.Arg163=)
c.1457G= (p.Arg486=)
c.1433G= (p.Arg478=)
c.1442G= (p.Arg481=)
c.1418G= (p.Arg473=)
c.1430G= (p.Arg477=)
1g.16996058C>GCA338252190ATP13A2c.1460G>C (p.Arg487Pro)
c.1445G>C (p.Arg482Pro)
n.1068G>C
n.488G>C
c.137G>C (p.Arg46Pro)
n.548G>C
c.488G>C (p.Arg163Pro)
c.1457G>C (p.Arg486Pro)
c.1433G>C (p.Arg478Pro)
c.1442G>C (p.Arg481Pro)
c.1418G>C (p.Arg473Pro)
c.1430G>C (p.Arg477Pro)
1g.16996058C>TCA637201ATP13A2c.1460G>A (p.Arg487Gln)
c.1445G>A (p.Arg482Gln)
n.1068G>A
n.488G>A
c.137G>A (p.Arg46Gln)
n.548G>A
c.488G>A (p.Arg163Gln)
c.1457G>A (p.Arg486Gln)
c.1433G>A (p.Arg478Gln)
c.1442G>A (p.Arg481Gln)
c.1418G>A (p.Arg473Gln)
c.1430G>A (p.Arg477Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16996059G>ACA338252192ATP13A2c.1459C>T (p.Arg487Ter)
c.1444C>T (p.Arg482Ter)
n.1067C>T
n.487C>T
c.136C>T (p.Arg46Ter)
n.547C>T
c.487C>T (p.Arg163Ter)
c.1456C>T (p.Arg486Ter)
c.1432C>T (p.Arg478Ter)
c.1441C>T (p.Arg481Ter)
c.1417C>T (p.Arg473Ter)
c.1429C>T (p.Arg477Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.16996059G>CCA338252201ATP13A2c.1459C>G (p.Arg487Gly)
c.1444C>G (p.Arg482Gly)
n.1067C>G
n.487C>G
c.136C>G (p.Arg46Gly)
n.547C>G
c.487C>G (p.Arg163Gly)
c.1456C>G (p.Arg486Gly)
c.1432C>G (p.Arg478Gly)
c.1441C>G (p.Arg481Gly)
c.1417C>G (p.Arg473Gly)
c.1429C>G (p.Arg477Gly)
1g.16996059G=CA1156030555ATP13A2c.1459C= (p.Arg487=)
c.1444C= (p.Arg482=)
n.1067C=
n.487C=
c.136C= (p.Arg46=)
n.547C=
c.487C= (p.Arg163=)
c.1456C= (p.Arg486=)
c.1432C= (p.Arg478=)
c.1441C= (p.Arg481=)
c.1417C= (p.Arg473=)
c.1429C= (p.Arg477=)
1g.16996059G>TCA416094760ATP13A2c.1459C>A (p.Arg487=)
c.1444C>A (p.Arg482=)
n.1067C>A
n.487C>A
c.136C>A (p.Arg46=)
n.547C>A
c.487C>A (p.Arg163=)
c.1456C>A (p.Arg486=)
c.1432C>A (p.Arg478=)
c.1441C>A (p.Arg481=)
c.1417C>A (p.Arg473=)
c.1429C>A (p.Arg477=)
1g.16996060G>ACA416094761ATP13A2c.1458C>T (p.Ser486=)
c.1443C>T (p.Ser481=)
n.1066C>T
n.486C>T
c.135C>T (p.Ser45=)
n.546C>T
c.486C>T (p.Ser162=)
c.1455C>T (p.Ser485=)
c.1431C>T (p.Ser477=)
c.1440C>T (p.Ser480=)
c.1416C>T (p.Ser472=)
c.1428C>T (p.Ser476=)
 COSMIC COSMIC
1g.16996060G>CCA338252202ATP13A2c.1458C>G (p.Ser486Arg)
c.1443C>G (p.Ser481Arg)
n.1066C>G
n.486C>G
c.135C>G (p.Ser45Arg)
n.546C>G
c.486C>G (p.Ser162Arg)
c.1455C>G (p.Ser485Arg)
c.1431C>G (p.Ser477Arg)
c.1440C>G (p.Ser480Arg)
c.1416C>G (p.Ser472Arg)
c.1428C>G (p.Ser476Arg)
1g.16996060G>TCA338252203ATP13A2c.1458C>A (p.Ser486Arg)
c.1443C>A (p.Ser481Arg)
n.1066C>A
n.486C>A
c.135C>A (p.Ser45Arg)
n.546C>A
c.486C>A (p.Ser162Arg)
c.1455C>A (p.Ser485Arg)
c.1431C>A (p.Ser477Arg)
c.1440C>A (p.Ser480Arg)
c.1416C>A (p.Ser472Arg)
c.1428C>A (p.Ser476Arg)
1g.16996061C>ACA338252208ATP13A2c.1457G>T (p.Ser486Ile)
c.1442G>T (p.Ser481Ile)
n.1065G>T
n.485G>T
c.134G>T (p.Ser45Ile)
n.545G>T
c.485G>T (p.Ser162Ile)
c.1454G>T (p.Ser485Ile)
c.1430G>T (p.Ser477Ile)
c.1439G>T (p.Ser480Ile)
c.1415G>T (p.Ser472Ile)
c.1427G>T (p.Ser476Ile)
 gnomAD v4
1g.16996061C>GCA338252210ATP13A2c.1457G>C (p.Ser486Thr)
c.1442G>C (p.Ser481Thr)
n.1065G>C
n.485G>C
c.134G>C (p.Ser45Thr)
n.545G>C
c.485G>C (p.Ser162Thr)
c.1454G>C (p.Ser485Thr)
c.1430G>C (p.Ser477Thr)
c.1439G>C (p.Ser480Thr)
c.1415G>C (p.Ser472Thr)
c.1427G>C (p.Ser476Thr)
1g.16996061C>TCA338252214ATP13A2c.1457G>A (p.Ser486Asn)
c.1442G>A (p.Ser481Asn)
n.1065G>A
n.485G>A
c.134G>A (p.Ser45Asn)
n.545G>A
c.485G>A (p.Ser162Asn)
c.1454G>A (p.Ser485Asn)
c.1430G>A (p.Ser477Asn)
c.1439G>A (p.Ser480Asn)
c.1415G>A (p.Ser472Asn)
c.1427G>A (p.Ser476Asn)
1g.16996062T>ACA338252233ATP13A2c.1456A>T (p.Ser486Cys)
c.1441A>T (p.Ser481Cys)
n.1064A>T
n.484A>T
c.133A>T (p.Ser45Cys)
n.544A>T
c.484A>T (p.Ser162Cys)
c.1453A>T (p.Ser485Cys)
c.1429A>T (p.Ser477Cys)
c.1438A>T (p.Ser480Cys)
c.1414A>T (p.Ser472Cys)
c.1426A>T (p.Ser476Cys)
1g.16996062T>CCA338252220ATP13A2c.1456A>G (p.Ser486Gly)
c.1441A>G (p.Ser481Gly)
n.1064A>G
n.484A>G
c.133A>G (p.Ser45Gly)
n.544A>G
c.484A>G (p.Ser162Gly)
c.1453A>G (p.Ser485Gly)
c.1429A>G (p.Ser477Gly)
c.1438A>G (p.Ser480Gly)
c.1414A>G (p.Ser472Gly)
c.1426A>G (p.Ser476Gly)
1g.16996062T>GCA338252219ATP13A2c.1456A>C (p.Ser486Arg)
c.1441A>C (p.Ser481Arg)
n.1064A>C
n.484A>C
c.133A>C (p.Ser45Arg)
n.544A>C
c.484A>C (p.Ser162Arg)
c.1453A>C (p.Ser485Arg)
c.1429A>C (p.Ser477Arg)
c.1438A>C (p.Ser480Arg)
c.1414A>C (p.Ser472Arg)
c.1426A>C (p.Ser476Arg)
1g.16996063C>ACA338252234ATP13A2c.1455G>T (p.Gln485His)
c.1440G>T (p.Gln480His)
n.1063G>T
n.483G>T
c.132G>T (p.Gln44His)
n.543G>T
c.483G>T (p.Gln161His)
c.1452G>T (p.Gln484His)
c.1428G>T (p.Gln476His)
c.1437G>T (p.Gln479His)
c.1413G>T (p.Gln471His)
c.1425G>T (p.Gln475His)
1g.16996063C=CA1156030564ATP13A2c.1455G= (p.Gln485=)
c.1440G= (p.Gln480=)
n.1063G=
n.483G=
c.132G= (p.Gln44=)
n.543G=
c.483G= (p.Gln161=)
c.1452G= (p.Gln484=)
c.1428G= (p.Gln476=)
c.1437G= (p.Gln479=)
c.1413G= (p.Gln471=)
c.1425G= (p.Gln475=)
1g.16996063C>GCA338252240ATP13A2c.1455G>C (p.Gln485His)
c.1440G>C (p.Gln480His)
n.1063G>C
n.483G>C
c.132G>C (p.Gln44His)
n.543G>C
c.483G>C (p.Gln161His)
c.1452G>C (p.Gln484His)
c.1428G>C (p.Gln476His)
c.1437G>C (p.Gln479His)
c.1413G>C (p.Gln471His)
c.1425G>C (p.Gln475His)
 dbSNP gnomAD v2
1g.16996063C>TCA416094767ATP13A2c.1455G>A (p.Gln485=)
c.1440G>A (p.Gln480=)
n.1063G>A
n.483G>A
c.132G>A (p.Gln44=)
n.543G>A
c.483G>A (p.Gln161=)
c.1452G>A (p.Gln484=)
c.1428G>A (p.Gln476=)
c.1437G>A (p.Gln479=)
c.1413G>A (p.Gln471=)
c.1425G>A (p.Gln475=)
1g.16996064T>ACA338252242ATP13A2c.1454A>T (p.Gln485Leu)
c.1439A>T (p.Gln480Leu)
n.1062A>T
n.482A>T
c.131A>T (p.Gln44Leu)
n.542A>T
c.482A>T (p.Gln161Leu)
c.1451A>T (p.Gln484Leu)
c.1427A>T (p.Gln476Leu)
c.1436A>T (p.Gln479Leu)
c.1412A>T (p.Gln471Leu)
c.1424A>T (p.Gln475Leu)
 gnomAD v4
1g.16996064T>CCA338252248ATP13A2c.1454A>G (p.Gln485Arg)
c.1439A>G (p.Gln480Arg)
n.1062A>G
n.482A>G
c.131A>G (p.Gln44Arg)
n.542A>G
c.482A>G (p.Gln161Arg)
c.1451A>G (p.Gln484Arg)
c.1427A>G (p.Gln476Arg)
c.1436A>G (p.Gln479Arg)
c.1412A>G (p.Gln471Arg)
c.1424A>G (p.Gln475Arg)
1g.16996064T>GCA338252245ATP13A2c.1454A>C (p.Gln485Pro)
c.1439A>C (p.Gln480Pro)
n.1062A>C
n.482A>C
c.131A>C (p.Gln44Pro)
n.542A>C
c.482A>C (p.Gln161Pro)
c.1451A>C (p.Gln484Pro)
c.1427A>C (p.Gln476Pro)
c.1436A>C (p.Gln479Pro)
c.1412A>C (p.Gln471Pro)
c.1424A>C (p.Gln475Pro)
1g.16996065G>ACA338252249ATP13A2c.1453C>T (p.Gln485Ter)
c.1438C>T (p.Gln480Ter)
n.1061C>T
n.481C>T
c.130C>T (p.Gln44Ter)
n.541C>T
c.481C>T (p.Gln161Ter)
c.1450C>T (p.Gln484Ter)
c.1426C>T (p.Gln476Ter)
c.1435C>T (p.Gln479Ter)
c.1411C>T (p.Gln471Ter)
c.1423C>T (p.Gln475Ter)
1g.16996065G>CCA338252250ATP13A2c.1453C>G (p.Gln485Glu)
c.1438C>G (p.Gln480Glu)
n.1061C>G
n.481C>G
c.130C>G (p.Gln44Glu)
n.541C>G
c.481C>G (p.Gln161Glu)
c.1450C>G (p.Gln484Glu)
c.1426C>G (p.Gln476Glu)
c.1435C>G (p.Gln479Glu)
c.1411C>G (p.Gln471Glu)
c.1423C>G (p.Gln475Glu)
1g.16996065G>TCA338252251ATP13A2c.1453C>A (p.Gln485Lys)
c.1438C>A (p.Gln480Lys)
n.1061C>A
n.481C>A
c.130C>A (p.Gln44Lys)
n.541C>A
c.481C>A (p.Gln161Lys)
c.1450C>A (p.Gln484Lys)
c.1426C>A (p.Gln476Lys)
c.1435C>A (p.Gln479Lys)
c.1411C>A (p.Gln471Lys)
c.1423C>A (p.Gln475Lys)
1g.16996066G>ACA416094772ATP13A2c.1452C>T (p.Ala484=)
c.1437C>T (p.Ala479=)
n.1060C>T
n.480C>T
c.129C>T (p.Ala43=)
n.540C>T
c.480C>T (p.Ala160=)
c.1449C>T (p.Ala483=)
c.1425C>T (p.Ala475=)
c.1434C>T (p.Ala478=)
c.1410C>T (p.Ala470=)
c.1422C>T (p.Ala474=)
1g.16996066G>CCA416094773ATP13A2c.1452C>G (p.Ala484=)
c.1437C>G (p.Ala479=)
n.1060C>G
n.480C>G
c.129C>G (p.Ala43=)
n.540C>G
c.480C>G (p.Ala160=)
c.1449C>G (p.Ala483=)
c.1425C>G (p.Ala475=)
c.1434C>G (p.Ala478=)
c.1410C>G (p.Ala470=)
c.1422C>G (p.Ala474=)
1g.16996066G>TCA416094775ATP13A2c.1452C>A (p.Ala484=)
c.1437C>A (p.Ala479=)
n.1060C>A
n.480C>A
c.129C>A (p.Ala43=)
n.540C>A
c.480C>A (p.Ala160=)
c.1449C>A (p.Ala483=)
c.1425C>A (p.Ala475=)
c.1434C>A (p.Ala478=)
c.1410C>A (p.Ala470=)
c.1422C>A (p.Ala474=)
1g.16996067G>ACA338252253ATP13A2c.1451C>T (p.Ala484Val)
c.1436C>T (p.Ala479Val)
n.1059C>T
n.479C>T
c.128C>T (p.Ala43Val)
n.539C>T
c.479C>T (p.Ala160Val)
c.1448C>T (p.Ala483Val)
c.1424C>T (p.Ala475Val)
c.1433C>T (p.Ala478Val)
c.1409C>T (p.Ala470Val)
c.1421C>T (p.Ala474Val)
 dbSNP gnomAD v2 gnomAD v4
1g.16996067G>CCA338252256ATP13A2c.1451C>G (p.Ala484Gly)
c.1436C>G (p.Ala479Gly)
n.1059C>G
n.479C>G
c.128C>G (p.Ala43Gly)
n.539C>G
c.479C>G (p.Ala160Gly)
c.1448C>G (p.Ala483Gly)
c.1424C>G (p.Ala475Gly)
c.1433C>G (p.Ala478Gly)
c.1409C>G (p.Ala470Gly)
c.1421C>G (p.Ala474Gly)
1g.16996067G=CA1156030568ATP13A2c.1451C= (p.Ala484=)
c.1436C= (p.Ala479=)
n.1059C=
n.479C=
c.128C= (p.Ala43=)
n.539C=
c.479C= (p.Ala160=)
c.1448C= (p.Ala483=)
c.1424C= (p.Ala475=)
c.1433C= (p.Ala478=)
c.1409C= (p.Ala470=)
c.1421C= (p.Ala474=)
1g.16996067G>TCA338252258ATP13A2c.1451C>A (p.Ala484Asp)
c.1436C>A (p.Ala479Asp)
n.1059C>A
n.479C>A
c.128C>A (p.Ala43Asp)
n.539C>A
c.479C>A (p.Ala160Asp)
c.1448C>A (p.Ala483Asp)
c.1424C>A (p.Ala475Asp)
c.1433C>A (p.Ala478Asp)
c.1409C>A (p.Ala470Asp)
c.1421C>A (p.Ala474Asp)
1g.16996068C>ACA338252264ATP13A2c.1450G>T (p.Ala484Ser)
c.1435G>T (p.Ala479Ser)
n.1058G>T
n.478G>T
c.127G>T (p.Ala43Ser)
n.538G>T
c.478G>T (p.Ala160Ser)
c.1447G>T (p.Ala483Ser)
c.1423G>T (p.Ala475Ser)
c.1432G>T (p.Ala478Ser)
c.1408G>T (p.Ala470Ser)
c.1420G>T (p.Ala474Ser)
 gnomAD v4
1g.16996068C=CA1156030573ATP13A2c.1450G= (p.Ala484=)
c.1435G= (p.Ala479=)
n.1058G=
n.478G=
c.127G= (p.Ala43=)
n.538G=
c.478G= (p.Ala160=)
c.1447G= (p.Ala483=)
c.1423G= (p.Ala475=)
c.1432G= (p.Ala478=)
c.1408G= (p.Ala470=)
c.1420G= (p.Ala474=)
1g.16996068C>GCA338252267ATP13A2c.1450G>C (p.Ala484Pro)
c.1435G>C (p.Ala479Pro)
n.1058G>C
n.478G>C
c.127G>C (p.Ala43Pro)
n.538G>C
c.478G>C (p.Ala160Pro)
c.1447G>C (p.Ala483Pro)
c.1423G>C (p.Ala475Pro)
c.1432G>C (p.Ala478Pro)
c.1408G>C (p.Ala470Pro)
c.1420G>C (p.Ala474Pro)
 dbSNP
1g.16996068C>TCA637202ATP13A2c.1450G>A (p.Ala484Thr)
c.1435G>A (p.Ala479Thr)
n.1058G>A
n.478G>A
c.127G>A (p.Ala43Thr)
n.538G>A
c.478G>A (p.Ala160Thr)
c.1447G>A (p.Ala483Thr)
c.1423G>A (p.Ala475Thr)
c.1432G>A (p.Ala478Thr)
c.1408G>A (p.Ala470Thr)
c.1420G>A (p.Ala474Thr)
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.16996069G>ACA637203ATP13A2c.1449C>T (p.Tyr483=)
c.1434C>T (p.Tyr478=)
n.1057C>T
n.477C>T
c.126C>T (p.Tyr42=)
n.537C>T
c.477C>T (p.Tyr159=)
c.1446C>T (p.Tyr482=)
c.1422C>T (p.Tyr474=)
c.1431C>T (p.Tyr477=)
c.1407C>T (p.Tyr469=)
c.1419C>T (p.Tyr473=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.16996069G>CCA338252274ATP13A2c.1449C>G (p.Tyr483Ter)
c.1434C>G (p.Tyr478Ter)
n.1057C>G
n.477C>G
c.126C>G (p.Tyr42Ter)
n.537C>G
c.477C>G (p.Tyr159Ter)
c.1446C>G (p.Tyr482Ter)
c.1422C>G (p.Tyr474Ter)
c.1431C>G (p.Tyr477Ter)
c.1407C>G (p.Tyr469Ter)
c.1419C>G (p.Tyr473Ter)
1g.16996069G=CA1156030580ATP13A2c.1449C= (p.Tyr483=)
c.1434C= (p.Tyr478=)
n.1057C=
n.477C=
c.126C= (p.Tyr42=)
n.537C=
c.477C= (p.Tyr159=)
c.1446C= (p.Tyr482=)
c.1422C= (p.Tyr474=)
c.1431C= (p.Tyr477=)
c.1407C= (p.Tyr469=)
c.1419C= (p.Tyr473=)
1g.16996069G>TCA338252278ATP13A2c.1449C>A (p.Tyr483Ter)
c.1434C>A (p.Tyr478Ter)
n.1057C>A
n.477C>A
c.126C>A (p.Tyr42Ter)
n.537C>A
c.477C>A (p.Tyr159Ter)
c.1446C>A (p.Tyr482Ter)
c.1422C>A (p.Tyr474Ter)
c.1431C>A (p.Tyr477Ter)
c.1407C>A (p.Tyr469Ter)
c.1419C>A (p.Tyr473Ter)
1g.16996070T>ACA338252307ATP13A2c.1448A>T (p.Tyr483Phe)
c.1433A>T (p.Tyr478Phe)
n.1056A>T
n.476A>T
c.125A>T (p.Tyr42Phe)
n.536A>T
c.476A>T (p.Tyr159Phe)
c.1445A>T (p.Tyr482Phe)
c.1421A>T (p.Tyr474Phe)
c.1430A>T (p.Tyr477Phe)
c.1406A>T (p.Tyr469Phe)
c.1418A>T (p.Tyr473Phe)
1g.16996070T>CCA338252282ATP13A2c.1448A>G (p.Tyr483Cys)
c.1433A>G (p.Tyr478Cys)
n.1056A>G
n.476A>G
c.125A>G (p.Tyr42Cys)
n.536A>G
c.476A>G (p.Tyr159Cys)
c.1445A>G (p.Tyr482Cys)
c.1421A>G (p.Tyr474Cys)
c.1430A>G (p.Tyr477Cys)
c.1406A>G (p.Tyr469Cys)
c.1418A>G (p.Tyr473Cys)
1g.16996070T>GCA338252294ATP13A2c.1448A>C (p.Tyr483Ser)
c.1433A>C (p.Tyr478Ser)
n.1056A>C
n.476A>C
c.125A>C (p.Tyr42Ser)
n.536A>C
c.476A>C (p.Tyr159Ser)
c.1445A>C (p.Tyr482Ser)
c.1421A>C (p.Tyr474Ser)
c.1430A>C (p.Tyr477Ser)
c.1406A>C (p.Tyr469Ser)
c.1418A>C (p.Tyr473Ser)
1g.16996071A>CCA338252310ATP13A2c.1447T>G (p.Tyr483Asp)
c.1432T>G (p.Tyr478Asp)
n.1055T>G
n.475T>G
c.124T>G (p.Tyr42Asp)
n.535T>G
c.475T>G (p.Tyr159Asp)
c.1444T>G (p.Tyr482Asp)
c.1420T>G (p.Tyr474Asp)
c.1429T>G (p.Tyr477Asp)
c.1405T>G (p.Tyr469Asp)
c.1417T>G (p.Tyr473Asp)
1g.16996071A>GCA338252321ATP13A2c.1447T>C (p.Tyr483His)
c.1432T>C (p.Tyr478His)
n.1055T>C
n.475T>C
c.124T>C (p.Tyr42His)
n.535T>C
c.475T>C (p.Tyr159His)
c.1444T>C (p.Tyr482His)
c.1420T>C (p.Tyr474His)
c.1429T>C (p.Tyr477His)
c.1405T>C (p.Tyr469His)
c.1417T>C (p.Tyr473His)
 gnomAD v4
1g.16996071A>TCA338252323ATP13A2c.1447T>A (p.Tyr483Asn)
c.1432T>A (p.Tyr478Asn)
n.1055T>A
n.475T>A
c.124T>A (p.Tyr42Asn)
n.535T>A
c.475T>A (p.Tyr159Asn)
c.1444T>A (p.Tyr482Asn)
c.1420T>A (p.Tyr474Asn)
c.1429T>A (p.Tyr477Asn)
c.1405T>A (p.Tyr469Asn)
c.1417T>A (p.Tyr473Asn)
1g.16996072G>ACA416094781ATP13A2c.1446C>T (p.Leu482=)
c.1431C>T (p.Leu477=)
n.1054C>T
n.474C>T
c.123C>T (p.Leu41=)
n.534C>T
c.474C>T (p.Leu158=)
c.1443C>T (p.Leu481=)
c.1419C>T (p.Leu473=)
c.1428C>T (p.Leu476=)
c.1404C>T (p.Leu468=)
c.1416C>T (p.Leu472=)
 dbSNP gnomAD v3 gnomAD v4
1g.16996072G>CCA416094783ATP13A2c.1446C>G (p.Leu482=)
c.1431C>G (p.Leu477=)
n.1054C>G
n.474C>G
c.123C>G (p.Leu41=)
n.534C>G
c.474C>G (p.Leu158=)
c.1443C>G (p.Leu481=)
c.1419C>G (p.Leu473=)
c.1428C>G (p.Leu476=)
c.1404C>G (p.Leu468=)
c.1416C>G (p.Leu472=)
 gnomAD v4
1g.16996072G=CA1156030589ATP13A2c.1446C= (p.Leu482=)
c.1431C= (p.Leu477=)
n.1054C=
n.474C=
c.123C= (p.Leu41=)
n.534C=
c.474C= (p.Leu158=)
c.1443C= (p.Leu481=)
c.1419C= (p.Leu473=)
c.1428C= (p.Leu476=)
c.1404C= (p.Leu468=)
c.1416C= (p.Leu472=)
1g.16996072G>TCA416094785ATP13A2c.1446C>A (p.Leu482=)
c.1431C>A (p.Leu477=)
n.1054C>A
n.474C>A
c.123C>A (p.Leu41=)
n.534C>A
c.474C>A (p.Leu158=)
c.1443C>A (p.Leu481=)
c.1419C>A (p.Leu473=)
c.1428C>A (p.Leu476=)
c.1404C>A (p.Leu468=)
c.1416C>A (p.Leu472=)
 COSMIC COSMIC
1g.16996073A>CCA338252328ATP13A2c.1445T>G (p.Leu482Arg)
c.1430T>G (p.Leu477Arg)
n.1053T>G
n.473T>G
c.122T>G (p.Leu41Arg)
n.533T>G
c.473T>G (p.Leu158Arg)
c.1442T>G (p.Leu481Arg)
c.1418T>G (p.Leu473Arg)
c.1427T>G (p.Leu476Arg)
c.1403T>G (p.Leu468Arg)
c.1415T>G (p.Leu472Arg)
1g.16996073A>GCA338252332ATP13A2c.1445T>C (p.Leu482Pro)
c.1430T>C (p.Leu477Pro)
n.1053T>C
n.473T>C
c.122T>C (p.Leu41Pro)
n.533T>C
c.473T>C (p.Leu158Pro)
c.1442T>C (p.Leu481Pro)
c.1418T>C (p.Leu473Pro)
c.1427T>C (p.Leu476Pro)
c.1403T>C (p.Leu468Pro)
c.1415T>C (p.Leu472Pro)
 dbSNP
1g.16996073A>TCA338252346ATP13A2c.1445T>A (p.Leu482His)
c.1430T>A (p.Leu477His)
n.1053T>A
n.473T>A
c.122T>A (p.Leu41His)
n.533T>A
c.473T>A (p.Leu158His)
c.1442T>A (p.Leu481His)
c.1418T>A (p.Leu473His)
c.1427T>A (p.Leu476His)
c.1403T>A (p.Leu468His)
c.1415T>A (p.Leu472His)
1g.16996074G>ACA338252350ATP13A2c.1444C>T (p.Leu482Phe)
c.1429C>T (p.Leu477Phe)
n.1052C>T
n.472C>T
c.121C>T (p.Leu41Phe)
n.532C>T
c.472C>T (p.Leu158Phe)
c.1441C>T (p.Leu481Phe)
c.1417C>T (p.Leu473Phe)
c.1426C>T (p.Leu476Phe)
c.1402C>T (p.Leu468Phe)
c.1414C>T (p.Leu472Phe)
 gnomAD v4
1g.16996074G>CCA338252352ATP13A2c.1444C>G (p.Leu482Val)
c.1429C>G (p.Leu477Val)
n.1052C>G
n.472C>G
c.121C>G (p.Leu41Val)
n.532C>G
c.472C>G (p.Leu158Val)
c.1441C>G (p.Leu481Val)
c.1417C>G (p.Leu473Val)
c.1426C>G (p.Leu476Val)
c.1402C>G (p.Leu468Val)
c.1414C>G (p.Leu472Val)
1g.16996074G>TCA338252353ATP13A2c.1444C>A (p.Leu482Ile)
c.1429C>A (p.Leu477Ile)
n.1052C>A
n.472C>A
c.121C>A (p.Leu41Ile)
n.532C>A
c.472C>A (p.Leu158Ile)
c.1441C>A (p.Leu481Ile)
c.1417C>A (p.Leu473Ile)
c.1426C>A (p.Leu476Ile)
c.1402C>A (p.Leu468Ile)
c.1414C>A (p.Leu472Ile)
 gnomAD v4
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

Number of alleles fetched