Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.17004738T>ACA637649ATP13A2c.431A>T (p.Asp144Val)
c.165A>T
c.408A>T
c.357A>T
c.143A>T (p.Asp48Val)
c.-416A>T (n.-416A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004738T>CCA338263181ATP13A2c.431A>G (p.Asp144Gly)
c.165A>G
c.408A>G
c.357A>G
c.143A>G (p.Asp48Gly)
c.-416A>G (n.-416A>G)
1g.17004738T>GCA338263179ATP13A2c.431A>C (p.Asp144Ala)
c.165A>C
c.408A>C
c.357A>C
c.143A>C (p.Asp48Ala)
c.-416A>C (n.-416A>C)
1g.17004738T=CA1142028250ATP13A2c.431A= (p.Asp144=)
c.165A=
c.408A=
c.357A=
c.143A= (p.Asp48=)
c.-416A= (n.-416A=)
1g.17004739C>ACA338263185ATP13A2c.430G>T (p.Asp144Tyr)
c.164G>T
c.407G>T
c.356G>T
c.142G>T (p.Asp48Tyr)
c.-417G>T (n.-417G>T)
1g.17004739C>GCA338263190ATP13A2c.430G>C (p.Asp144His)
c.164G>C
c.407G>C
c.356G>C
c.142G>C (p.Asp48His)
c.-417G>C (n.-417G>C)
1g.17004739C>TCA338263187ATP13A2c.430G>A (p.Asp144Asn)
c.164G>A
c.407G>A
c.356G>A
c.142G>A (p.Asp48Asn)
c.-417G>A (n.-417G>A)
1g.17004740C>ACA338263192ATP13A2c.429G>T (p.Lys143Asn)
c.163G>T
c.406G>T
c.355G>T
c.141G>T (p.Lys47Asn)
c.-418G>T (n.-418G>T)
 COSMIC COSMIC
1g.17004740C=CA1156072477ATP13A2c.429G= (p.Lys143=)
c.163G=
c.406G=
c.355G=
c.141G= (p.Lys47=)
c.-418G= (n.-418G=)
1g.17004740C>GCA338263194ATP13A2c.429G>C (p.Lys143Asn)
c.163G>C
c.406G>C
c.355G>C
c.141G>C (p.Lys47Asn)
c.-418G>C (n.-418G>C)
1g.17004740C>TCA416071167ATP13A2c.429G>A (p.Lys143=)
c.163G>A
c.406G>A
c.355G>A
c.141G>A (p.Lys47=)
c.-418G>A (n.-418G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17004741T>ACA338263197ATP13A2c.428A>T (p.Lys143Met)
c.162A>T
c.405A>T
c.354A>T
c.140A>T (p.Lys47Met)
c.-419A>T (n.-419A>T)
1g.17004741T>CCA338263205ATP13A2c.428A>G (p.Lys143Arg)
c.162A>G
c.405A>G
c.354A>G
c.140A>G (p.Lys47Arg)
c.-419A>G (n.-419A>G)
1g.17004741T>GCA338263207ATP13A2c.428A>C (p.Lys143Thr)
c.162A>C
c.405A>C
c.354A>C
c.140A>C (p.Lys47Thr)
c.-419A>C (n.-419A>C)
1g.17004742T>ACA338263210ATP13A2c.427A>T (p.Lys143Ter)
c.161A>T
c.404A>T
c.353A>T
c.139A>T (p.Lys47Ter)
c.-420A>T (n.-420A>T)
1g.17004742T>CCA637650ATP13A2c.427A>G (p.Lys143Glu)
c.161A>G
c.404A>G
c.353A>G
c.139A>G (p.Lys47Glu)
c.-420A>G (n.-420A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17004742T>GCA338263218ATP13A2c.427A>C (p.Lys143Gln)
c.161A>C
c.404A>C
c.353A>C
c.139A>C (p.Lys47Gln)
c.-420A>C (n.-420A>C)
1g.17004742T=CA1156072479ATP13A2c.427A= (p.Lys143=)
c.161A=
c.404A=
c.353A=
c.139A= (p.Lys47=)
c.-420A= (n.-420A=)
1g.17004743C>ACA338263220ATP13A2c.426G>T (p.Trp142Cys)
c.160G>T
c.403G>T
c.352G>T
c.138G>T (p.Trp46Cys)
c.-421G>T (n.-421G>T)
1g.17004743C>GCA338263222ATP13A2c.426G>C (p.Trp142Cys)
c.160G>C
c.403G>C
c.352G>C
c.138G>C (p.Trp46Cys)
c.-421G>C (n.-421G>C)
1g.17004743C>TCA338263225ATP13A2c.426G>A (p.Trp142Ter)
c.160G>A
c.403G>A
c.352G>A
c.138G>A (p.Trp46Ter)
c.-421G>A (n.-421G>A)
1g.17004744C>ACA338263236ATP13A2c.425G>T (p.Trp142Leu)
c.159G>T
c.402G>T
c.351G>T
c.137G>T (p.Trp46Leu)
c.-422G>T (n.-422G>T)
1g.17004744C>GCA338263234ATP13A2c.425G>C (p.Trp142Ser)
c.159G>C
c.402G>C
c.351G>C
c.137G>C (p.Trp46Ser)
c.-422G>C (n.-422G>C)
1g.17004744C>TCA338263231ATP13A2c.425G>A (p.Trp142Ter)
c.159G>A
c.402G>A
c.351G>A
c.137G>A (p.Trp46Ter)
c.-422G>A (n.-422G>A)
 gnomAD v4
1g.17004745A>CCA338263242ATP13A2c.424T>G (p.Trp142Gly)
c.158T>G
c.401T>G
c.350T>G
c.136T>G (p.Trp46Gly)
c.-423T>G (n.-423T>G)
1g.17004745A>GCA338263245ATP13A2c.424T>C (p.Trp142Arg)
c.158T>C
c.401T>C
c.350T>C
c.136T>C (p.Trp46Arg)
c.-423T>C (n.-423T>C)
1g.17004745A>TCA338263247ATP13A2c.424T>A (p.Trp142Arg)
c.158T>A
c.401T>A
c.350T>A
c.136T>A (p.Trp46Arg)
c.-423T>A (n.-423T>A)
1g.17004746G>ACA416071193ATP13A2c.423C>T (p.Ala141=)
c.157C>T
c.400C>T
c.349C>T
c.135C>T (p.Ala45=)
c.-424C>T (n.-424C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.17004746G>CCA416071194ATP13A2c.423C>G (p.Ala141=)
c.157C>G
c.400C>G
c.349C>G
c.135C>G (p.Ala45=)
c.-424C>G (n.-424C>G)
1g.17004746G=CA1156072482ATP13A2c.423C= (p.Ala141=)
c.157C=
c.400C=
c.349C=
c.135C= (p.Ala45=)
c.-424C= (n.-424C=)
1g.17004746G>TCA416071192ATP13A2c.423C>A (p.Ala141=)
c.157C>A
c.400C>A
c.349C>A
c.135C>A (p.Ala45=)
c.-424C>A (n.-424C>A)
1g.17004747G>ACA338263249ATP13A2c.422C>T (p.Ala141Val)
c.156C>T
c.399C>T
c.348C>T
c.134C>T (p.Ala45Val)
c.-425C>T (n.-425C>T)
 gnomAD v4
1g.17004747G>CCA338263252ATP13A2c.422C>G (p.Ala141Gly)
c.156C>G
c.399C>G
c.348C>G
c.134C>G (p.Ala45Gly)
c.-425C>G (n.-425C>G)
1g.17004747G>TCA338263253ATP13A2c.422C>A (p.Ala141Asp)
c.156C>A
c.399C>A
c.348C>A
c.134C>A (p.Ala45Asp)
c.-425C>A (n.-425C>A)
1g.17004748C>ACA338263255ATP13A2c.421G>T (p.Ala141Ser)
c.155G>T
c.398G>T
c.347G>T
c.133G>T (p.Ala45Ser)
c.-426G>T (n.-426G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.17004748C=CA1156072488ATP13A2c.421G= (p.Ala141=)
c.155G=
c.398G=
c.347G=
c.133G= (p.Ala45=)
c.-426G= (n.-426G=)
1g.17004748C>GCA338263257ATP13A2c.421G>C (p.Ala141Pro)
c.155G>C
c.398G>C
c.347G>C
c.133G>C (p.Ala45Pro)
c.-426G>C (n.-426G>C)
1g.17004748C>TCA338263259ATP13A2c.421G>A (p.Ala141Thr)
c.155G>A
c.398G>A
c.347G>A
c.133G>A (p.Ala45Thr)
c.-426G>A (n.-426G>A)
 gnomAD v4
1g.17004749A=CA1156072490ATP13A2c.420T= (p.Gly140=)
c.154T=
c.397T=
c.346T=
c.132T= (p.Gly44=)
c.-427T= (n.-427T=)
1g.17004749A>CCA416071205ATP13A2c.420T>G (p.Gly140=)
c.154T>G
c.397T>G
c.346T>G
c.132T>G (p.Gly44=)
c.-427T>G (n.-427T>G)
 dbSNP
1g.17004749A>GCA416071209ATP13A2c.420T>C (p.Gly140=)
c.154T>C
c.397T>C
c.346T>C
c.132T>C (p.Gly44=)
c.-427T>C (n.-427T>C)
1g.17004749A>TCA416071213ATP13A2c.420T>A (p.Gly140=)
c.154T>A
c.397T>A
c.346T>A
c.132T>A (p.Gly44=)
c.-427T>A (n.-427T>A)
 gnomAD v4
1g.17004750C>ACA338263261ATP13A2c.419G>T (p.Gly140Val)
c.153G>T
c.396G>T
c.345G>T
c.131G>T (p.Gly44Val)
c.-428G>T (n.-428G>T)
1g.17004750C=CA1156072495ATP13A2c.419G= (p.Gly140=)
c.153G=
c.396G=
c.345G=
c.131G= (p.Gly44=)
c.-428G= (n.-428G=)
1g.17004750C>GCA338263262ATP13A2c.419G>C (p.Gly140Ala)
c.153G>C
c.396G>C
c.345G>C
c.131G>C (p.Gly44Ala)
c.-428G>C (n.-428G>C)
1g.17004750C>TCA338263264ATP13A2c.419G>A (p.Gly140Asp)
c.153G>A
c.396G>A
c.345G>A
c.131G>A (p.Gly44Asp)
c.-428G>A (n.-428G>A)
 dbSNP
1g.17004751C>ACA338263271ATP13A2c.418G>T (p.Gly140Cys)
c.152G>T
c.395G>T
c.344G>T
c.130G>T (p.Gly44Cys)
c.-429G>T (n.-429G>T)
1g.17004751C=CA1156072505ATP13A2c.418G= (p.Gly140=)
c.152G=
c.395G=
c.344G=
c.130G= (p.Gly44=)
c.-429G= (n.-429G=)
1g.17004751C>GCA338263268ATP13A2c.418G>C (p.Gly140Arg)
c.152G>C
c.395G>C
c.344G>C
c.130G>C (p.Gly44Arg)
c.-429G>C (n.-429G>C)
1g.17004751C>TCA338263266ATP13A2c.418G>A (p.Gly140Ser)
c.152G>A
c.395G>A
c.344G>A
c.130G>A (p.Gly44Ser)
c.-429G>A (n.-429G>A)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.17004757_17004795dupCA521449950ATP13A2c.380_418dup (p.Glu139_Gly140insAspGlyArgSerGlnAlaAlaValGlyAlaValProGlu)
c.114_152dup
c.357_395dup
c.306_344dup
c.92_130dup (p.Glu43_Gly44insAspGlyArgSerGlnAlaAlaValGlyAlaValProGlu)
c.-467_-429dup (n.-467_-429dup)
 dbSNP gnomAD v2
1g.17004752C>ACA338263274ATP13A2c.417G>T (p.Glu139Asp)
c.151G>T
c.394G>T
c.343G>T
c.129G>T (p.Glu43Asp)
c.-430G>T (n.-430G>T)
1g.17004752C=CA1156072508ATP13A2c.417G= (p.Glu139=)
c.151G=
c.394G=
c.343G=
c.129G= (p.Glu43=)
c.-430G= (n.-430G=)
1g.17004752C>GCA338263277ATP13A2c.417G>C (p.Glu139Asp)
c.151G>C
c.394G>C
c.343G>C
c.129G>C (p.Glu43Asp)
c.-430G>C (n.-430G>C)
 dbSNP
1g.17004752C>TCA416071222ATP13A2c.417G>A (p.Glu139=)
c.151G>A
c.394G>A
c.343G>A
c.129G>A (p.Glu43=)
c.-430G>A (n.-430G>A)
1g.17004754_17004755dupCA2643675231ATP13A2c.416_417dup (p.Gly140ArgfsTer17)
c.416_417dup (p.Gly140ArgfsTer?)
c.150_151dup
c.393_394dup
c.342_343dup
c.128_129dup (p.Gly44ArgfsTer17)
c.-431_-430dup (n.-431_-430dup)
 gnomAD v4
1g.17004753T>ACA338263279ATP13A2c.416A>T (p.Glu139Val)
c.150A>T
c.393A>T
c.342A>T
c.128A>T (p.Glu43Val)
c.-431A>T (n.-431A>T)
1g.17004753T>CCA338263282ATP13A2c.416A>G (p.Glu139Gly)
c.150A>G
c.393A>G
c.342A>G
c.128A>G (p.Glu43Gly)
c.-431A>G (n.-431A>G)
1g.17004753T>GCA338263284ATP13A2c.416A>C (p.Glu139Ala)
c.150A>C
c.393A>C
c.342A>C
c.128A>C (p.Glu43Ala)
c.-431A>C (n.-431A>C)
1g.17004754C>ACA338263288ATP13A2c.415G>T (p.Glu139Ter)
c.149G>T
c.392G>T
c.341G>T
c.127G>T (p.Glu43Ter)
c.-432G>T (n.-432G>T)
1g.17004754C>GCA338263287ATP13A2c.415G>C (p.Glu139Gln)
c.149G>C
c.392G>C
c.341G>C
c.127G>C (p.Glu43Gln)
c.-432G>C (n.-432G>C)
 COSMIC COSMIC
1g.17004754C>TCA338263285ATP13A2c.415G>A (p.Glu139Lys)
c.149G>A
c.392G>A
c.341G>A
c.127G>A (p.Glu43Lys)
c.-432G>A (n.-432G>A)
1g.17004755T>ACA416071240ATP13A2c.414A>T (p.Pro138=)
c.148A>T
c.391A>T
c.340A>T
c.126A>T (p.Pro42=)
c.-433A>T (n.-433A>T)
1g.17004755T>CCA416071243ATP13A2c.414A>G (p.Pro138=)
c.148A>G
c.391A>G
c.340A>G
c.126A>G (p.Pro42=)
c.-433A>G (n.-433A>G)
 gnomAD v4
1g.17004755T>GCA416071246ATP13A2c.414A>C (p.Pro138=)
c.148A>C
c.391A>C
c.340A>C
c.126A>C (p.Pro42=)
c.-433A>C (n.-433A>C)
1g.17004756G>ACA338263290ATP13A2c.413C>T (p.Pro138Leu)
c.147C>T
c.390C>T
c.339C>T
c.125C>T (p.Pro42Leu)
c.-434C>T (n.-434C>T)
 gnomAD v4
1g.17004756G>CCA338263292ATP13A2c.413C>G (p.Pro138Arg)
c.147C>G
c.390C>G
c.339C>G
c.125C>G (p.Pro42Arg)
c.-434C>G (n.-434C>G)
1g.17004756G>TCA338263293ATP13A2c.413C>A (p.Pro138Gln)
c.147C>A
c.390C>A
c.339C>A
c.125C>A (p.Pro42Gln)
c.-434C>A (n.-434C>A)
1g.17004757G>ACA338263296ATP13A2c.412C>T (p.Pro138Ser)
c.146C>T
c.389C>T
c.338C>T
c.124C>T (p.Pro42Ser)
c.-435C>T (n.-435C>T)
1g.17004757G>CCA338263297ATP13A2c.412C>G (p.Pro138Ala)
c.146C>G
c.389C>G
c.338C>G
c.124C>G (p.Pro42Ala)
c.-435C>G (n.-435C>G)
 dbSNP gnomAD v3 gnomAD v4
1g.17004757G=CA1156072510ATP13A2c.412C= (p.Pro138=)
c.146C=
c.389C=
c.338C=
c.124C= (p.Pro42=)
c.-435C= (n.-435C=)
1g.17004757G>TCA338263300ATP13A2c.412C>A (p.Pro138Thr)
c.146C>A
c.389C>A
c.338C>A
c.124C>A (p.Pro42Thr)
c.-435C>A (n.-435C>A)
1g.17004758T>ACA416071261ATP13A2c.411A>T (p.Val137=)
c.145A>T
c.388A>T
c.337A>T
c.123A>T (p.Val41=)
c.-436A>T (n.-436A>T)
1g.17004758T>CCA416071272ATP13A2c.411A>G (p.Val137=)
c.145A>G
c.388A>G
c.337A>G
c.123A>G (p.Val41=)
c.-436A>G (n.-436A>G)
 gnomAD v4
1g.17004758T>GCA416071264ATP13A2c.411A>C (p.Val137=)
c.145A>C
c.388A>C
c.337A>C
c.123A>C (p.Val41=)
c.-436A>C (n.-436A>C)
1g.17004759A=CA1156072515ATP13A2c.410T= (p.Val137=)
c.144T=
c.387T=
c.336T=
c.122T= (p.Val41=)
c.-437T= (n.-437T=)
1g.17004759A>CCA338263303ATP13A2c.410T>G (p.Val137Gly)
c.144T>G
c.387T>G
c.336T>G
c.122T>G (p.Val41Gly)
c.-437T>G (n.-437T>G)
 dbSNP gnomAD v3 gnomAD v4
1g.17004759A>GCA338263307ATP13A2c.410T>C (p.Val137Ala)
c.144T>C
c.387T>C
c.336T>C
c.122T>C (p.Val41Ala)
c.-437T>C (n.-437T>C)
1g.17004759A>TCA338263305ATP13A2c.410T>A (p.Val137Glu)
c.144T>A
c.387T>A
c.336T>A
c.122T>A (p.Val41Glu)
c.-437T>A (n.-437T>A)
1g.17004759_17004760delinsACCA1156072517ATP13A2c.409_410delinsGT (p.Val137=)
c.143_144delinsGT
c.386_387delinsGT
c.335_336delinsGT
c.121_122delinsGT (p.Val41=)
c.-438_-437delinsGT (n.-438_-437delinsGT)
1g.17004760C>ACA338263309ATP13A2c.409G>T (p.Val137Leu)
c.143G>T
c.386G>T
c.335G>T
c.121G>T (p.Val41Leu)
c.-438G>T (n.-438G>T)
1g.17004760C>GCA338263311ATP13A2c.409G>C (p.Val137Leu)
c.143G>C
c.386G>C
c.335G>C
c.121G>C (p.Val41Leu)
c.-438G>C (n.-438G>C)
1g.17004760C>TCA338263314ATP13A2c.409G>A (p.Val137Ile)
c.143G>A
c.386G>A
c.335G>A
c.121G>A (p.Val41Ile)
c.-438G>A (n.-438G>A)
1g.17004761delCA916082003ATP13A2c.409del (p.Val137TyrfsTer19)
c.409del (p.Val137TyrfsTer?)
c.143del
c.386del
c.335del
c.121del (p.Val41TyrfsTer19)
c.-438del (n.-438del)
 ClinVar dbSNP
1g.17004761C>ACA416071294ATP13A2c.408G>T (p.Ala136=)
c.142G>T
c.385G>T
c.334G>T
c.120G>T (p.Ala40=)
c.-439G>T (n.-439G>T)
 gnomAD v4
1g.17004761C=CA1143758080ATP13A2c.408G= (p.Ala136=)
c.142G=
c.385G=
c.334G=
c.120G= (p.Ala40=)
c.-439G= (n.-439G=)
1g.17004761C>GCA416071297ATP13A2c.408G>C (p.Ala136=)
c.142G>C
c.385G>C
c.334G>C
c.120G>C (p.Ala40=)
c.-439G>C (n.-439G>C)
1g.17004761C>TCA637651ATP13A2c.408G>A (p.Ala136=)
c.142G>A
c.385G>A
c.334G>A
c.120G>A (p.Ala40=)
c.-439G>A (n.-439G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.17004762G>ACA637652ATP13A2c.407C>T (p.Ala136Val)
c.141C>T
c.384C>T
c.333C>T
c.119C>T (p.Ala40Val)
c.-440C>T (n.-440C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.17004762G>CCA338263317ATP13A2c.407C>G (p.Ala136Gly)
c.141C>G
c.384C>G
c.333C>G
c.119C>G (p.Ala40Gly)
c.-440C>G (n.-440C>G)
1g.17004762G=CA1146921225ATP13A2c.407C= (p.Ala136=)
c.141C=
c.384C=
c.333C=
c.119C= (p.Ala40=)
c.-440C= (n.-440C=)
1g.17004762G>TCA338263318ATP13A2c.407C>A (p.Ala136Glu)
c.141C>A
c.384C>A
c.333C>A
c.119C>A (p.Ala40Glu)
c.-440C>A (n.-440C>A)
1g.17004763C>ACA338263321ATP13A2c.406G>T (p.Ala136Ser)
c.140G>T
c.383G>T
c.332G>T
c.118G>T (p.Ala40Ser)
c.-441G>T (n.-441G>T)
1g.17004763C>GCA338263324ATP13A2c.406G>C (p.Ala136Pro)
c.140G>C
c.383G>C
c.332G>C
c.118G>C (p.Ala40Pro)
c.-441G>C (n.-441G>C)
1g.17004763C>TCA338263326ATP13A2c.406G>A (p.Ala136Thr)
c.140G>A
c.383G>A
c.332G>A
c.118G>A (p.Ala40Thr)
c.-441G>A (n.-441G>A)
 gnomAD v4
1g.17004764C>ACA416071308ATP13A2c.405G>T (p.Gly135=)
c.139G>T
c.382G>T
c.331G>T
c.117G>T (p.Gly39=)
c.-442G>T (n.-442G>T)
1g.17004764C>GCA416071311ATP13A2c.405G>C (p.Gly135=)
c.139G>C
c.382G>C
c.331G>C
c.117G>C (p.Gly39=)
c.-442G>C (n.-442G>C)
1g.17004764C>TCA416071314ATP13A2c.405G>A (p.Gly135=)
c.139G>A
c.382G>A
c.331G>A
c.117G>A (p.Gly39=)
c.-442G>A (n.-442G>A)
1g.17004765C>ACA338263336ATP13A2c.404G>T (p.Gly135Val)
c.138G>T
c.381G>T
c.330G>T
c.116G>T (p.Gly39Val)
c.-443G>T (n.-443G>T)
 dbSNP gnomAD v4
1g.17004765C=CA1156072529ATP13A2c.404G= (p.Gly135=)
c.138G=
c.381G=
c.330G=
c.116G= (p.Gly39=)
c.-443G= (n.-443G=)
1g.17004765C>GCA338263334ATP13A2c.404G>C (p.Gly135Ala)
c.138G>C
c.381G>C
c.330G>C
c.116G>C (p.Gly39Ala)
c.-443G>C (n.-443G>C)
1g.17004765C>TCA338263329ATP13A2c.404G>A (p.Gly135Glu)
c.138G>A
c.381G>A
c.330G>A
c.116G>A (p.Gly39Glu)
c.-443G>A (n.-443G>A)
 gnomAD v4
1g.17004766C>ACA338263338ATP13A2c.403G>T (p.Gly135Trp)
c.137G>T
c.380G>T
c.329G>T
c.115G>T (p.Gly39Trp)
c.-444G>T (n.-444G>T)
1g.17004766C>GCA338263342ATP13A2c.403G>C (p.Gly135Arg)
c.137G>C
c.380G>C
c.329G>C
c.115G>C (p.Gly39Arg)
c.-444G>C (n.-444G>C)
1g.17004766C>TCA338263341ATP13A2c.403G>A (p.Gly135Arg)
c.137G>A
c.380G>A
c.329G>A
c.115G>A (p.Gly39Arg)
c.-444G>A (n.-444G>A)
1g.17004767A>CCA416071326ATP13A2c.402T>G (p.Val134=)
c.136T>G
c.379T>G
c.328T>G
c.114T>G (p.Val38=)
c.-445T>G (n.-445T>G)
1g.17004767A>GCA416071328ATP13A2c.402T>C (p.Val134=)
c.136T>C
c.379T>C
c.328T>C
c.114T>C (p.Val38=)
c.-445T>C (n.-445T>C)
1g.17004767A>TCA416071331ATP13A2c.402T>A (p.Val134=)
c.136T>A
c.379T>A
c.328T>A
c.114T>A (p.Val38=)
c.-445T>A (n.-445T>A)
1g.17004768A>CCA338263344ATP13A2c.401T>G (p.Val134Gly)
c.135T>G
c.378T>G
c.327T>G
c.113T>G (p.Val38Gly)
c.-446T>G (n.-446T>G)
1g.17004768A>GCA338263349ATP13A2c.401T>C (p.Val134Ala)
c.135T>C
c.378T>C
c.327T>C
c.113T>C (p.Val38Ala)
c.-446T>C (n.-446T>C)
 ClinVar dbSNP
1g.17004768A>TCA338263347ATP13A2c.401T>A (p.Val134Asp)
c.135T>A
c.378T>A
c.327T>A
c.113T>A (p.Val38Asp)
c.-446T>A (n.-446T>A)
1g.17004769C>ACA338263352ATP13A2c.400G>T (p.Val134Phe)
c.134G>T
c.377G>T
c.326G>T
c.112G>T (p.Val38Phe)
c.-447G>T (n.-447G>T)
1g.17004769C>GCA338263357ATP13A2c.400G>C (p.Val134Leu)
c.134G>C
c.377G>C
c.326G>C
c.112G>C (p.Val38Leu)
c.-447G>C (n.-447G>C)
1g.17004769C>TCA338263354ATP13A2c.400G>A (p.Val134Ile)
c.134G>A
c.377G>A
c.326G>A
c.112G>A (p.Val38Ile)
c.-447G>A (n.-447G>A)
 gnomAD v4
1g.17004770T>ACA416071353ATP13A2c.399A>T (p.Ala133=)
c.133A>T
c.376A>T
c.325A>T
c.111A>T (p.Ala37=)
c.-448A>T (n.-448A>T)
1g.17004770T>CCA416071356ATP13A2c.399A>G (p.Ala133=)
c.133A>G
c.376A>G
c.325A>G
c.111A>G (p.Ala37=)
c.-448A>G (n.-448A>G)
1g.17004770T>GCA416071357ATP13A2c.399A>C (p.Ala133=)
c.133A>C
c.376A>C
c.325A>C
c.111A>C (p.Ala37=)
c.-448A>C (n.-448A>C)
1g.17004771G>ACA338263360ATP13A2c.398C>T (p.Ala133Val)
c.132C>T
c.375C>T
c.324C>T
c.110C>T (p.Ala37Val)
c.-449C>T (n.-449C>T)
1g.17004771G>CCA338263363ATP13A2c.398C>G (p.Ala133Gly)
c.132C>G
c.375C>G
c.324C>G
c.110C>G (p.Ala37Gly)
c.-449C>G (n.-449C>G)
1g.17004771G>TCA338263366ATP13A2c.398C>A (p.Ala133Glu)
c.132C>A
c.375C>A
c.324C>A
c.110C>A (p.Ala37Glu)
c.-449C>A (n.-449C>A)
1g.17004772C>ACA338263368ATP13A2c.397G>T (p.Ala133Ser)
c.131G>T
c.374G>T
c.323G>T
c.109G>T (p.Ala37Ser)
c.-450G>T (n.-450G>T)
 gnomAD v4
1g.17004772C>GCA338263370ATP13A2c.397G>C (p.Ala133Pro)
c.131G>C
c.374G>C
c.323G>C
c.109G>C (p.Ala37Pro)
c.-450G>C (n.-450G>C)
1g.17004772C>TCA338263372ATP13A2c.397G>A (p.Ala133Thr)
c.131G>A
c.374G>A
c.323G>A
c.109G>A (p.Ala37Thr)
c.-450G>A (n.-450G>A)
1g.17004773C>ACA416071367ATP13A2c.396G>T (p.Ala132=)
c.130G>T
c.373G>T
c.322G>T
c.108G>T (p.Ala36=)
c.-451G>T (n.-451G>T)
 COSMIC COSMIC
1g.17004773C=CA1141754283ATP13A2c.396G= (p.Ala132=)
c.130G=
c.373G=
c.322G=
c.108G= (p.Ala36=)
c.-451G= (n.-451G=)
1g.17004773C>GCA416071368ATP13A2c.396G>C (p.Ala132=)
c.130G>C
c.373G>C
c.322G>C
c.108G>C (p.Ala36=)
c.-451G>C (n.-451G>C)
1g.17004773C>TCA637653ATP13A2c.396G>A (p.Ala132=)
c.130G>A
c.373G>A
c.322G>A
c.108G>A (p.Ala36=)
c.-451G>A (n.-451G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004774G>ACA18646263ATP13A2c.395C>T (p.Ala132Val)
c.129C>T
c.372C>T
c.321C>T
c.107C>T (p.Ala36Val)
c.-452C>T (n.-452C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.17004774G>CCA338263379ATP13A2c.395C>G (p.Ala132Gly)
c.129C>G
c.372C>G
c.321C>G
c.107C>G (p.Ala36Gly)
c.-452C>G (n.-452C>G)
1g.17004774G=CA1156072534ATP13A2c.395C= (p.Ala132=)
c.129C=
c.372C=
c.321C=
c.107C= (p.Ala36=)
c.-452C= (n.-452C=)
1g.17004774G>TCA338263382ATP13A2c.395C>A (p.Ala132Glu)
c.129C>A
c.372C>A
c.321C>A
c.107C>A (p.Ala36Glu)
c.-452C>A (n.-452C>A)
1g.17004775C>ACA338263387ATP13A2c.394G>T (p.Ala132Ser)
c.128G>T
c.371G>T
c.320G>T
c.106G>T (p.Ala36Ser)
c.-453G>T (n.-453G>T)
1g.17004775C=CA1143449726ATP13A2c.394G= (p.Ala132=)
c.128G=
c.371G=
c.320G=
c.106G= (p.Ala36=)
c.-453G= (n.-453G=)
1g.17004775C>GCA338263385ATP13A2c.394G>C (p.Ala132Pro)
c.128G>C
c.371G>C
c.320G>C
c.106G>C (p.Ala36Pro)
c.-453G>C (n.-453G>C)
1g.17004775C>TCA637654ATP13A2c.394G>A (p.Ala132Thr)
c.128G>A
c.371G>A
c.320G>A
c.106G>A (p.Ala36Thr)
c.-453G>A (n.-453G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004776C>ACA338263389ATP13A2c.393G>T (p.Gln131His)
c.127G>T
c.370G>T
c.319G>T
c.105G>T (p.Gln35His)
c.-454G>T (n.-454G>T)
1g.17004776C=CA1156072541ATP13A2c.393G= (p.Gln131=)
c.127G=
c.370G=
c.319G=
c.105G= (p.Gln35=)
c.-454G= (n.-454G=)
1g.17004776C>GCA338263392ATP13A2c.393G>C (p.Gln131His)
c.127G>C
c.370G>C
c.319G>C
c.105G>C (p.Gln35His)
c.-454G>C (n.-454G>C)
1g.17004776C>TCA416071390ATP13A2c.393G>A (p.Gln131=)
c.127G>A
c.370G>A
c.319G>A
c.105G>A (p.Gln35=)
c.-454G>A (n.-454G>A)
 dbSNP gnomAD v4
1g.17004777T>ACA338263396ATP13A2c.392A>T (p.Gln131Leu)
c.126A>T
c.369A>T
c.318A>T
c.104A>T (p.Gln35Leu)
c.-455A>T (n.-455A>T)
1g.17004777T>CCA338263398ATP13A2c.392A>G (p.Gln131Arg)
c.126A>G
c.369A>G
c.318A>G
c.104A>G (p.Gln35Arg)
c.-455A>G (n.-455A>G)
 gnomAD v4
1g.17004777T>GCA338263399ATP13A2c.392A>C (p.Gln131Pro)
c.126A>C
c.369A>C
c.318A>C
c.104A>C (p.Gln35Pro)
c.-455A>C (n.-455A>C)
1g.17004778G>ACA338263402ATP13A2c.391C>T (p.Gln131Ter)
c.125C>T
c.368C>T
c.317C>T
c.103C>T (p.Gln35Ter)
c.-456C>T (n.-456C>T)
1g.17004778G>CCA338263404ATP13A2c.391C>G (p.Gln131Glu)
c.125C>G
c.368C>G
c.317C>G
c.103C>G (p.Gln35Glu)
c.-456C>G (n.-456C>G)
1g.17004778G>TCA338263405ATP13A2c.391C>A (p.Gln131Lys)
c.125C>A
c.368C>A
c.317C>A
c.103C>A (p.Gln35Lys)
c.-456C>A (n.-456C>A)
1g.17004779G>ACA416071415ATP13A2c.390C>T (p.Ser130=)
c.124C>T
c.367C>T
c.316C>T
c.102C>T (p.Ser34=)
c.-457C>T (n.-457C>T)
1g.17004779G>CCA338263407ATP13A2c.390C>G (p.Ser130Arg)
c.124C>G
c.367C>G
c.316C>G
c.102C>G (p.Ser34Arg)
c.-457C>G (n.-457C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17004779G=CA1156072544ATP13A2c.390C= (p.Ser130=)
c.124C=
c.367C=
c.316C=
c.102C= (p.Ser34=)
c.-457C= (n.-457C=)
1g.17004779G>TCA338263408ATP13A2c.390C>A (p.Ser130Arg)
c.124C>A
c.367C>A
c.316C>A
c.102C>A (p.Ser34Arg)
c.-457C>A (n.-457C>A)
1g.17004780C>ACA338263412ATP13A2c.389G>T (p.Ser130Ile)
c.123G>T
c.366G>T
c.315G>T
c.101G>T (p.Ser34Ile)
c.-458G>T (n.-458G>T)
1g.17004780C>GCA338263414ATP13A2c.389G>C (p.Ser130Thr)
c.123G>C
c.366G>C
c.315G>C
c.101G>C (p.Ser34Thr)
c.-458G>C (n.-458G>C)
1g.17004780C>TCA338263411ATP13A2c.389G>A (p.Ser130Asn)
c.123G>A
c.366G>A
c.315G>A
c.101G>A (p.Ser34Asn)
c.-458G>A (n.-458G>A)
1g.17004781T>ACA338263416ATP13A2c.388A>T (p.Ser130Cys)
c.122A>T
c.365A>T
c.314A>T
c.100A>T (p.Ser34Cys)
c.-459A>T (n.-459A>T)
1g.17004781T>CCA338263419ATP13A2c.388A>G (p.Ser130Gly)
c.122A>G
c.365A>G
c.314A>G
c.100A>G (p.Ser34Gly)
c.-459A>G (n.-459A>G)
 gnomAD v4
1g.17004781T>GCA338263421ATP13A2c.388A>C (p.Ser130Arg)
c.122A>C
c.365A>C
c.314A>C
c.100A>C (p.Ser34Arg)
c.-459A>C (n.-459A>C)
1g.17004782C>ACA416071453ATP13A2c.387G>T (p.Arg129=)
c.121G>T
c.364G>T
c.313G>T
c.99G>T (p.Arg33=)
c.-460G>T (n.-460G>T)
 COSMIC COSMIC
1g.17004782C>GCA416071454ATP13A2c.387G>C (p.Arg129=)
c.121G>C
c.364G>C
c.313G>C
c.99G>C (p.Arg33=)
c.-460G>C (n.-460G>C)
 gnomAD v4
1g.17004782C>TCA416071456ATP13A2c.387G>A (p.Arg129=)
c.121G>A
c.364G>A
c.313G>A
c.99G>A (p.Arg33=)
c.-460G>A (n.-460G>A)
1g.17004783C>ACA338263423ATP13A2c.386G>T (p.Arg129Leu)
c.120G>T
c.363G>T
c.312G>T
c.98G>T (p.Arg33Leu)
c.-461G>T (n.-461G>T)
1g.17004783C=CA1156072556ATP13A2c.386G= (p.Arg129=)
c.120G=
c.363G=
c.312G=
c.98G= (p.Arg33=)
c.-461G= (n.-461G=)
1g.17004783C>GCA338263425ATP13A2c.386G>C (p.Arg129Pro)
c.120G>C
c.363G>C
c.312G>C
c.98G>C (p.Arg33Pro)
c.-461G>C (n.-461G>C)
1g.17004783C>TCA637655ATP13A2c.386G>A (p.Arg129Gln)
c.120G>A
c.363G>A
c.312G>A
c.98G>A (p.Arg33Gln)
c.-461G>A (n.-461G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004784G>ACA338263429ATP13A2c.385C>T (p.Arg129Trp)
c.119C>T
c.362C>T
c.311C>T
c.97C>T (p.Arg33Trp)
c.-462C>T (n.-462C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17004784G>CCA338263432ATP13A2c.385C>G (p.Arg129Gly)
c.119C>G
c.362C>G
c.311C>G
c.97C>G (p.Arg33Gly)
c.-462C>G (n.-462C>G)
 gnomAD v4
1g.17004784G=CA1156072557ATP13A2c.385C= (p.Arg129=)
c.119C=
c.362C=
c.311C=
c.97C= (p.Arg33=)
c.-462C= (n.-462C=)
1g.17004784G>TCA416071461ATP13A2c.385C>A (p.Arg129=)
c.119C>A
c.362C>A
c.311C>A
c.97C>A (p.Arg33=)
c.-462C>A (n.-462C>A)
1g.17004785G>ACA416071465ATP13A2c.384C>T (p.Gly128=)
c.118C>T
c.361C>T
c.310C>T
c.96C>T (p.Gly32=)
c.-463C>T (n.-463C>T)
1g.17004785G>CCA416071468ATP13A2c.384C>G (p.Gly128=)
c.118C>G
c.361C>G
c.310C>G
c.96C>G (p.Gly32=)
c.-463C>G (n.-463C>G)
1g.17004785G>TCA416071469ATP13A2c.384C>A (p.Gly128=)
c.118C>A
c.361C>A
c.310C>A
c.96C>A (p.Gly32=)
c.-463C>A (n.-463C>A)
1g.17004786C>ACA338263439ATP13A2c.383G>T (p.Gly128Val)
c.117G>T
c.360G>T
c.309G>T
c.95G>T (p.Gly32Val)
c.-464G>T (n.-464G>T)
1g.17004786C>GCA338263442ATP13A2c.383G>C (p.Gly128Ala)
c.117G>C
c.360G>C
c.309G>C
c.95G>C (p.Gly32Ala)
c.-464G>C (n.-464G>C)
1g.17004786C>TCA338263444ATP13A2c.383G>A (p.Gly128Asp)
c.117G>A
c.360G>A
c.309G>A
c.95G>A (p.Gly32Asp)
c.-464G>A (n.-464G>A)
1g.17004787C>ACA338263454ATP13A2c.382G>T (p.Gly128Cys)
c.116G>T
c.359G>T
c.308G>T
c.94G>T (p.Gly32Cys)
c.-465G>T (n.-465G>T)
1g.17004787C>GCA338263453ATP13A2c.382G>C (p.Gly128Arg)
c.116G>C
c.359G>C
c.308G>C
c.94G>C (p.Gly32Arg)
c.-465G>C (n.-465G>C)
1g.17004787C>TCA338263451ATP13A2c.382G>A (p.Gly128Ser)
c.116G>A
c.359G>A
c.308G>A
c.94G>A (p.Gly32Ser)
c.-465G>A (n.-465G>A)
1g.17004788A>CCA338263456ATP13A2c.381T>G (p.Asp127Glu)
c.115T>G
c.358T>G
c.307T>G
c.93T>G (p.Asp31Glu)
c.-466T>G (n.-466T>G)
1g.17004788A>GCA416071511ATP13A2c.381T>C (p.Asp127=)
c.115T>C
c.358T>C
c.307T>C
c.93T>C (p.Asp31=)
c.-466T>C (n.-466T>C)
1g.17004788A>TCA338263458ATP13A2c.381T>A (p.Asp127Glu)
c.115T>A
c.358T>A
c.307T>A
c.93T>A (p.Asp31Glu)
c.-466T>A (n.-466T>A)
1g.17004789T>ACA338263462ATP13A2c.380A>T (p.Asp127Val)
c.114A>T
c.357A>T
c.306A>T
c.92A>T (p.Asp31Val)
c.-467A>T (n.-467A>T)
1g.17004789T>CCA338263465ATP13A2c.380A>G (p.Asp127Gly)
c.114A>G
c.357A>G
c.306A>G
c.92A>G (p.Asp31Gly)
c.-467A>G (n.-467A>G)
1g.17004789T>GCA338263468ATP13A2c.380A>C (p.Asp127Ala)
c.114A>C
c.357A>C
c.306A>C
c.92A>C (p.Asp31Ala)
c.-467A>C (n.-467A>C)
1g.17004789_17004790delinsTCCA1156072558ATP13A2c.379_380delinsGA (p.Asp127=)
c.113_114delinsGA
c.356_357delinsGA
c.305_306delinsGA
c.91_92delinsGA (p.Asp31=)
c.-468_-467delinsGA (n.-468_-467delinsGA)
1g.17004790C>ACA338263470ATP13A2c.379G>T (p.Asp127Tyr)
c.113G>T
c.356G>T
c.305G>T
c.91G>T (p.Asp31Tyr)
c.-468G>T (n.-468G>T)
1g.17004790C>GCA338263471ATP13A2c.379G>C (p.Asp127His)
c.113G>C
c.356G>C
c.305G>C
c.91G>C (p.Asp31His)
c.-468G>C (n.-468G>C)
1g.17004790C>TCA338263472ATP13A2c.379G>A (p.Asp127Asn)
c.113G>A
c.356G>A
c.305G>A
c.91G>A (p.Asp31Asn)
c.-468G>A (n.-468G>A)
1g.17004791delCA521449955ATP13A2c.379del (p.Asp127MetfsTer29)
c.379del (p.Asp127MetfsTer?)
c.113del
c.356del
c.305del
c.91del (p.Asp31MetfsTer29)
c.-468del (n.-468del)
 dbSNP gnomAD v2 gnomAD v4
1g.17004791C>ACA338263473ATP13A2c.378G>T (p.Glu126Asp)
c.112G>T
c.355G>T
c.304G>T
c.90G>T (p.Glu30Asp)
c.-469G>T (n.-469G>T)
1g.17004791C=CA1156072559ATP13A2c.378G= (p.Glu126=)
c.112G=
c.355G=
c.304G=
c.90G= (p.Glu30=)
c.-469G= (n.-469G=)
1g.17004791C>GCA637656ATP13A2c.378G>C (p.Glu126Asp)
c.112G>C
c.355G>C
c.304G>C
c.90G>C (p.Glu30Asp)
c.-469G>C (n.-469G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17004791C>TCA416071532ATP13A2c.378G>A (p.Glu126=)
c.112G>A
c.355G>A
c.304G>A
c.90G>A (p.Glu30=)
c.-469G>A (n.-469G>A)
1g.17004792T>ACA338263474ATP13A2c.377A>T (p.Glu126Val)
c.111A>T
c.354A>T
c.303A>T
c.89A>T (p.Glu30Val)
c.-470A>T (n.-470A>T)
1g.17004792T>CCA338263476ATP13A2c.377A>G (p.Glu126Gly)
c.111A>G
c.354A>G
c.303A>G
c.89A>G (p.Glu30Gly)
c.-470A>G (n.-470A>G)
 gnomAD v4
1g.17004792T>GCA338263478ATP13A2c.377A>C (p.Glu126Ala)
c.111A>C
c.354A>C
c.303A>C
c.89A>C (p.Glu30Ala)
c.-470A>C (n.-470A>C)
1g.17004793C>ACA338263482ATP13A2c.376G>T (p.Glu126Ter)
c.110G>T
c.353G>T
c.302G>T
c.88G>T (p.Glu30Ter)
c.-471G>T (n.-471G>T)
1g.17004793C>GCA338263483ATP13A2c.376G>C (p.Glu126Gln)
c.110G>C
c.353G>C
c.302G>C
c.88G>C (p.Glu30Gln)
c.-471G>C (n.-471G>C)
1g.17004793C>TCA338263480ATP13A2c.376G>A (p.Glu126Lys)
c.110G>A
c.353G>A
c.302G>A
c.88G>A (p.Glu30Lys)
c.-471G>A (n.-471G>A)
1g.17004794T>ACA416071548ATP13A2c.375A>T (p.Ala125=)
c.109A>T
c.352A>T
c.301A>T
c.87A>T (p.Ala29=)
c.-472A>T (n.-472A>T)
1g.17004794T>CCA416071544ATP13A2c.375A>G (p.Ala125=)
c.109A>G
c.352A>G
c.301A>G
c.87A>G (p.Ala29=)
c.-472A>G (n.-472A>G)
1g.17004794T>GCA416071545ATP13A2c.375A>C (p.Ala125=)
c.109A>C
c.352A>C
c.301A>C
c.87A>C (p.Ala29=)
c.-472A>C (n.-472A>C)
1g.17004795G>ACA338263485ATP13A2c.374C>T (p.Ala125Val)
c.108C>T
c.351C>T
c.300C>T
c.86C>T (p.Ala29Val)
c.-473C>T (n.-473C>T)
1g.17004795G>CCA18646294ATP13A2c.374C>G (p.Ala125Gly)
c.108C>G
c.351C>G
c.300C>G
c.86C>G (p.Ala29Gly)
c.-473C>G (n.-473C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.17004795G=CA1156072561ATP13A2c.374C= (p.Ala125=)
c.108C=
c.351C=
c.300C=
c.86C= (p.Ala29=)
c.-473C= (n.-473C=)
1g.17004795G>TCA338263486ATP13A2c.374C>A (p.Ala125Glu)
c.108C>A
c.351C>A
c.300C>A
c.86C>A (p.Ala29Glu)
c.-473C>A (n.-473C>A)
 ClinVar
1g.17004796C>ACA338263489ATP13A2c.373G>T (p.Ala125Ser)
c.107G>T
c.350G>T
c.299G>T
c.85G>T (p.Ala29Ser)
c.-474G>T (n.-474G>T)
1g.17004796C=CA1156072565ATP13A2c.373G= (p.Ala125=)
c.107G=
c.350G=
c.299G=
c.85G= (p.Ala29=)
c.-474G= (n.-474G=)
1g.17004796C>GCA338263491ATP13A2c.373G>C (p.Ala125Pro)
c.107G>C
c.350G>C
c.299G>C
c.85G>C (p.Ala29Pro)
c.-474G>C (n.-474G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.17004796C>TCA338263493ATP13A2c.373G>A (p.Ala125Thr)
c.107G>A
c.350G>A
c.299G>A
c.85G>A (p.Ala29Thr)
c.-474G>A (n.-474G>A)
1g.17004797C>ACA338263495ATP13A2c.372G>T (p.Gln124His)
c.106G>T
c.349G>T
c.298G>T
c.84G>T (p.Gln28His)
c.-475G>T (n.-475G>T)
1g.17004797C=CA1156072567ATP13A2c.372G= (p.Gln124=)
c.106G=
c.349G=
c.298G=
c.84G= (p.Gln28=)
c.-475G= (n.-475G=)
1g.17004797C>GCA338263498ATP13A2c.372G>C (p.Gln124His)
c.106G>C
c.349G>C
c.298G>C
c.84G>C (p.Gln28His)
c.-475G>C (n.-475G>C)
1g.17004797C>TCA637657ATP13A2c.372G>A (p.Gln124=)
c.106G>A
c.349G>A
c.298G>A
c.84G>A (p.Gln28=)
c.-475G>A (n.-475G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17004798T>ACA338263503ATP13A2c.371A>T (p.Gln124Leu)
c.105A>T
c.348A>T
c.297A>T
c.83A>T (p.Gln28Leu)
c.-476A>T (n.-476A>T)
1g.17004798T>CCA338263508ATP13A2c.371A>G (p.Gln124Arg)
c.105A>G
c.348A>G
c.297A>G
c.83A>G (p.Gln28Arg)
c.-476A>G (n.-476A>G)
1g.17004798T>GCA338263510ATP13A2c.371A>C (p.Gln124Pro)
c.105A>C
c.348A>C
c.297A>C
c.83A>C (p.Gln28Pro)
c.-476A>C (n.-476A>C)
1g.17004798T=CA1156072569ATP13A2c.371A= (p.Gln124=)
c.105A=
c.348A=
c.297A=
c.83A= (p.Gln28=)
c.-476A= (n.-476A=)
1g.17004799G>ACA338263517ATP13A2c.370C>T (p.Gln124Ter)
c.104C>T
c.347C>T
c.296C>T
c.82C>T (p.Gln28Ter)
c.-477C>T (n.-477C>T)
1g.17004799G>CCA338263514ATP13A2c.370C>G (p.Gln124Glu)
c.104C>G
c.347C>G
c.296C>G
c.82C>G (p.Gln28Glu)
c.-477C>G (n.-477C>G)
1g.17004799G>TCA338263512ATP13A2c.370C>A (p.Gln124Lys)
c.104C>A
c.347C>A
c.296C>A
c.82C>A (p.Gln28Lys)
c.-477C>A (n.-477C>A)
1g.17004801dupCA521449958ATP13A2c.370dup (p.Gln124ProfsTer?)
c.104dup
c.347dup
c.296dup
c.82dup (p.Gln28ProfsTer?)
c.-477dup (n.-477dup)
 dbSNP gnomAD v2
1g.17004800G>ACA416071585ATP13A2c.369C>T (p.Ser123=)
c.103C>T
c.346C>T
c.295C>T
c.81C>T (p.Ser27=)
c.-478C>T (n.-478C>T)
1g.17004800G>CCA416071587ATP13A2c.369C>G (p.Ser123=)
c.103C>G
c.346C>G
c.295C>G
c.81C>G (p.Ser27=)
c.-478C>G (n.-478C>G)
1g.17004800G>TCA416071589ATP13A2c.369C>A (p.Ser123=)
c.103C>A
c.346C>A
c.295C>A
c.81C>A (p.Ser27=)
c.-478C>A (n.-478C>A)
1g.17004801G>ACA338263520ATP13A2c.368C>T (p.Ser123Phe)
c.102C>T
c.345C>T
c.294C>T
c.80C>T (p.Ser27Phe)
c.-479C>T (n.-479C>T)
 COSMIC COSMIC
1g.17004801G>CCA338263522ATP13A2c.368C>G (p.Ser123Cys)
c.102C>G
c.345C>G
c.294C>G
c.80C>G (p.Ser27Cys)
c.-479C>G (n.-479C>G)
1g.17004801G=CA1148229181ATP13A2c.368C= (p.Ser123=)
c.102C=
c.345C=
c.294C=
c.80C= (p.Ser27=)
c.-479C= (n.-479C=)
1g.17004801G>TCA637658ATP13A2c.368C>A (p.Ser123Tyr)
c.102C>A
c.345C>A
c.294C>A
c.80C>A (p.Ser27Tyr)
c.-479C>A (n.-479C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004802A>CCA338263529ATP13A2c.367T>G (p.Ser123Ala)
c.101T>G
c.344T>G
c.293T>G
c.79T>G (p.Ser27Ala)
c.-480T>G (n.-480T>G)
 dbSNP
1g.17004802A>GCA338263531ATP13A2c.367T>C (p.Ser123Pro)
c.101T>C
c.344T>C
c.293T>C
c.79T>C (p.Ser27Pro)
c.-480T>C (n.-480T>C)
1g.17004802A>TCA338263533ATP13A2c.367T>A (p.Ser123Thr)
c.101T>A
c.344T>A
c.293T>A
c.79T>A (p.Ser27Thr)
c.-480T>A (n.-480T>A)
1g.17004803C>ACA338263536ATP13A2c.366G>T (p.Gln122His)
c.100G>T
c.343G>T
c.292G>T
c.78G>T (p.Gln26His)
c.-481G>T (n.-481G>T)
 COSMIC COSMIC
1g.17004803C>GCA338263539ATP13A2c.366G>C (p.Gln122His)
c.100G>C
c.343G>C
c.292G>C
c.78G>C (p.Gln26His)
c.-481G>C (n.-481G>C)
1g.17004803C>TCA416071624ATP13A2c.366G>A (p.Gln122=)
c.100G>A
c.343G>A
c.292G>A
c.78G>A (p.Gln26=)
c.-481G>A (n.-481G>A)
 gnomAD v4
1g.17004804T>ACA338263541ATP13A2c.365A>T (p.Gln122Leu)
c.99A>T
c.342A>T
c.291A>T
c.77A>T (p.Gln26Leu)
c.-482A>T (n.-482A>T)
1g.17004804T>CCA338263543ATP13A2c.365A>G (p.Gln122Arg)
c.99A>G
c.342A>G
c.291A>G
c.77A>G (p.Gln26Arg)
c.-482A>G (n.-482A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.17004804T>GCA338263546ATP13A2c.365A>C (p.Gln122Pro)
c.99A>C
c.342A>C
c.291A>C
c.77A>C (p.Gln26Pro)
c.-482A>C (n.-482A>C)
1g.17004804T=CA1156072575ATP13A2c.365A= (p.Gln122=)
c.99A=
c.342A=
c.291A=
c.77A= (p.Gln26=)
c.-482A= (n.-482A=)
1g.17004805G>ACA16043960ATP13A2c.364C>T (p.Gln122Ter)
c.98C>T
c.341C>T
c.290C>T
c.76C>T (p.Gln26Ter)
c.-483C>T (n.-483C>T)
 ClinVar dbSNP
1g.17004805G>CCA338263557ATP13A2c.364C>G (p.Gln122Glu)
c.98C>G
c.341C>G
c.290C>G
c.76C>G (p.Gln26Glu)
c.-483C>G (n.-483C>G)
1g.17004805G=CA1156072579ATP13A2c.364C= (p.Gln122=)
c.98C=
c.341C=
c.290C=
c.76C= (p.Gln26=)
c.-483C= (n.-483C=)
1g.17004805G>TCA338263559ATP13A2c.364C>A (p.Gln122Lys)
c.98C>A
c.341C>A
c.290C>A
c.76C>A (p.Gln26Lys)
c.-483C>A (n.-483C>A)
 gnomAD v4
1g.17004806T>ACA416071661ATP13A2c.363A>T (p.Pro121=)
c.97A>T
c.340A>T
c.289A>T
c.75A>T (p.Pro25=)
c.-484A>T (n.-484A>T)
1g.17004806T>CCA416071667ATP13A2c.363A>G (p.Pro121=)
c.97A>G
c.340A>G
c.289A>G
c.75A>G (p.Pro25=)
c.-484A>G (n.-484A>G)
1g.17004806T>GCA416071665ATP13A2c.363A>C (p.Pro121=)
c.97A>C
c.340A>C
c.289A>C
c.75A>C (p.Pro25=)
c.-484A>C (n.-484A>C)
1g.17004807G>ACA338263563ATP13A2c.362C>T (p.Pro121Leu)
c.96C>T
c.339C>T
c.288C>T
c.74C>T (p.Pro25Leu)
c.-485C>T (n.-485C>T)
1g.17004807G>CCA338263565ATP13A2c.362C>G (p.Pro121Arg)
c.96C>G
c.339C>G
c.288C>G
c.74C>G (p.Pro25Arg)
c.-485C>G (n.-485C>G)
1g.17004807G>TCA338263561ATP13A2c.362C>A (p.Pro121Gln)
c.96C>A
c.339C>A
c.288C>A
c.74C>A (p.Pro25Gln)
c.-485C>A (n.-485C>A)
1g.17004808G>ACA338263566ATP13A2c.361C>T (p.Pro121Ser)
c.95C>T
c.338C>T
c.287C>T
c.73C>T (p.Pro25Ser)
c.-486C>T (n.-486C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.17004808G>CCA338263567ATP13A2c.361C>G (p.Pro121Ala)
c.95C>G
c.338C>G
c.287C>G
c.73C>G (p.Pro25Ala)
c.-486C>G (n.-486C>G)
1g.17004808G=CA1156072584ATP13A2c.361C= (p.Pro121=)
c.95C=
c.338C=
c.287C=
c.73C= (p.Pro25=)
c.-486C= (n.-486C=)
1g.17004808G>TCA338263569ATP13A2c.361C>A (p.Pro121Thr)
c.95C>A
c.338C>A
c.287C>A
c.73C>A (p.Pro25Thr)
c.-486C>A (n.-486C>A)
 gnomAD v4
1g.17004808_17004812delinsGGGACCA1156072585ATP13A2c.357_361delinsGTCCC (p.Pro119=)
c.91_95delinsGTCCC
c.334_338delinsGTCCC
c.283_287delinsGTCCC
c.69_73delinsGTCCC (p.Pro23=)
c.-490_-486delinsGTCCC (n.-490_-486delinsGTCCC)
1g.17004809G>ACA416071689ATP13A2c.360C>T (p.Ser120=)
c.94C>T
c.337C>T
c.286C>T
c.72C>T (p.Ser24=)
c.-487C>T (n.-487C>T)
1g.17004809G>CCA416071691ATP13A2c.360C>G (p.Ser120=)
c.94C>G
c.337C>G
c.286C>G
c.72C>G (p.Ser24=)
c.-487C>G (n.-487C>G)
1g.17004809G>TCA416071692ATP13A2c.360C>A (p.Ser120=)
c.94C>A
c.337C>A
c.286C>A
c.72C>A (p.Ser24=)
c.-487C>A (n.-487C>A)
1g.17004811_17004814delCA890972802ATP13A2c.357_360del (p.Ser120HisfsTer?)
c.91_94del
c.334_337del
c.283_286del
c.69_72del (p.Ser24HisfsTer?)
c.-490_-487del (n.-490_-487del)
 dbSNP gnomAD v3 gnomAD v4
1g.17004810G>ACA338263573ATP13A2c.359C>T (p.Ser120Phe)
c.93C>T
c.336C>T
c.285C>T
c.71C>T (p.Ser24Phe)
c.-488C>T (n.-488C>T)
1g.17004810G>CCA338263574ATP13A2c.359C>G (p.Ser120Cys)
c.93C>G
c.336C>G
c.285C>G
c.71C>G (p.Ser24Cys)
c.-488C>G (n.-488C>G)
1g.17004810G>TCA338263576ATP13A2c.359C>A (p.Ser120Tyr)
c.93C>A
c.336C>A
c.285C>A
c.71C>A (p.Ser24Tyr)
c.-488C>A (n.-488C>A)
1g.17004811A=CA1156072589ATP13A2c.358T= (p.Ser120=)
c.92T=
c.335T=
c.284T=
c.70T= (p.Ser24=)
c.-489T= (n.-489T=)
1g.17004811A>CCA338263579ATP13A2c.358T>G (p.Ser120Ala)
c.92T>G
c.335T>G
c.284T>G
c.70T>G (p.Ser24Ala)
c.-489T>G (n.-489T>G)
1g.17004811A>GCA338263581ATP13A2c.358T>C (p.Ser120Pro)
c.92T>C
c.335T>C
c.284T>C
c.70T>C (p.Ser24Pro)
c.-489T>C (n.-489T>C)
 dbSNP gnomAD v4
1g.17004811A>TCA338263582ATP13A2c.358T>A (p.Ser120Thr)
c.92T>A
c.335T>A
c.284T>A
c.70T>A (p.Ser24Thr)
c.-489T>A (n.-489T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17004812C>ACA416071706ATP13A2c.357G>T (p.Pro119=)
c.91G>T
c.334G>T
c.283G>T
c.69G>T (p.Pro23=)
c.-490G>T (n.-490G>T)
 COSMIC COSMIC
1g.17004812C=CA1141825754ATP13A2c.357G= (p.Pro119=)
c.91G=
c.334G=
c.283G=
c.69G= (p.Pro23=)
c.-490G= (n.-490G=)
1g.17004812C>GCA416071707ATP13A2c.357G>C (p.Pro119=)
c.91G>C
c.334G>C
c.283G>C
c.69G>C (p.Pro23=)
c.-490G>C (n.-490G>C)
1g.17004812C>TCA637659ATP13A2c.357G>A (p.Pro119=)
c.91G>A
c.334G>A
c.283G>A
c.69G>A (p.Pro23=)
c.-490G>A (n.-490G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.17004813G>ACA637660ATP13A2c.356C>T (p.Pro119Leu)
c.90C>T
c.333C>T
c.282C>T
c.68C>T (p.Pro23Leu)
c.-491C>T (n.-491C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004813G>CCA338263584ATP13A2c.356C>G (p.Pro119Arg)
c.90C>G
c.333C>G
c.282C>G
c.68C>G (p.Pro23Arg)
c.-491C>G (n.-491C>G)
1g.17004813G=CA1156072595ATP13A2c.356C= (p.Pro119=)
c.90C=
c.333C=
c.282C=
c.68C= (p.Pro23=)
c.-491C= (n.-491C=)
1g.17004813G>TCA338263586ATP13A2c.356C>A (p.Pro119Gln)
c.90C>A
c.333C>A
c.282C>A
c.68C>A (p.Pro23Gln)
c.-491C>A (n.-491C>A)
1g.17004814G>ACA338263596ATP13A2c.355C>T (p.Pro119Ser)
c.89C>T
c.332C>T
c.281C>T
c.67C>T (p.Pro23Ser)
c.-492C>T (n.-492C>T)
 gnomAD v4
1g.17004814G>CCA338263588ATP13A2c.355C>G (p.Pro119Ala)
c.89C>G
c.332C>G
c.281C>G
c.67C>G (p.Pro23Ala)
c.-492C>G (n.-492C>G)
 dbSNP gnomAD v4
1g.17004814G=CA1156072600ATP13A2c.355C= (p.Pro119=)
c.89C=
c.332C=
c.281C=
c.67C= (p.Pro23=)
c.-492C= (n.-492C=)
1g.17004814G>TCA338263590ATP13A2c.355C>A (p.Pro119Thr)
c.89C>A
c.332C>A
c.281C>A
c.67C>A (p.Pro23Thr)
c.-492C>A (n.-492C>A)
1g.17004815C>ACA338263602ATP13A2c.354G>T (p.Glu118Asp)
c.88G>T
c.331G>T
c.280G>T
c.66G>T (p.Glu22Asp)
c.-493G>T (n.-493G>T)
1g.17004815C>GCA338263605ATP13A2c.354G>C (p.Glu118Asp)
c.88G>C
c.331G>C
c.280G>C
c.66G>C (p.Glu22Asp)
c.-493G>C (n.-493G>C)
1g.17004815C>TCA416071732ATP13A2c.354G>A (p.Glu118=)
c.88G>A
c.331G>A
c.280G>A
c.66G>A (p.Glu22=)
c.-493G>A (n.-493G>A)
 gnomAD v4
1g.17004816T>ACA338263607ATP13A2c.353A>T (p.Glu118Val)
c.87A>T
c.330A>T
c.279A>T
c.65A>T (p.Glu22Val)
c.-494A>T (n.-494A>T)
 dbSNP gnomAD v2
1g.17004816T>CCA338263610ATP13A2c.353A>G (p.Glu118Gly)
c.87A>G
c.330A>G
c.279A>G
c.65A>G (p.Glu22Gly)
c.-494A>G (n.-494A>G)
1g.17004816T>GCA338263613ATP13A2c.353A>C (p.Glu118Ala)
c.87A>C
c.330A>C
c.279A>C
c.65A>C (p.Glu22Ala)
c.-494A>C (n.-494A>C)
1g.17004816T=CA1156072604ATP13A2c.353A= (p.Glu118=)
c.87A=
c.330A=
c.279A=
c.65A= (p.Glu22=)
c.-494A= (n.-494A=)
1g.17004817C>ACA637662ATP13A2c.352G>T (p.Glu118Ter)
c.86G>T
c.329G>T
c.278G>T
c.64G>T (p.Glu22Ter)
c.-495G>T (n.-495G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004817C=CA1156072610ATP13A2c.352G= (p.Glu118=)
c.86G=
c.329G=
c.278G=
c.64G= (p.Glu22=)
c.-495G= (n.-495G=)
1g.17004817C>GCA338263619ATP13A2c.352G>C (p.Glu118Gln)
c.86G>C
c.329G>C
c.278G>C
c.64G>C (p.Glu22Gln)
c.-495G>C (n.-495G>C)
1g.17004817C>TCA637661ATP13A2c.352G>A (p.Glu118Lys)
c.86G>A
c.329G>A
c.278G>A
c.64G>A (p.Glu22Lys)
c.-495G>A (n.-495G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004817_17004830delinsCCAGGCTGGGGAAGCA1156072609ATP13A2c.348-9_352delinsCTTCCCCAGCCTGG
c.82-9_86delinsCTTCCCCAGCCTGG
c.325-9_329delinsCTTCCCCAGCCTGG
c.274-9_278delinsCTTCCCCAGCCTGG
c.60-9_64delinsCTTCCCCAGCCTGG
c.-499-9_-495delinsCTTCCCCAGCCTGG
1g.17004818C>ACA416071743ATP13A2c.351G>T (p.Leu117=)
c.85G>T
c.328G>T
c.277G>T
c.63G>T (p.Leu21=)
c.-496G>T (n.-496G>T)
1g.17004818C>GCA416071745ATP13A2c.351G>C (p.Leu117=)
c.85G>C
c.328G>C
c.277G>C
c.63G>C (p.Leu21=)
c.-496G>C (n.-496G>C)
1g.17004818C>TCA416071749ATP13A2c.351G>A (p.Leu117=)
c.85G>A
c.328G>A
c.277G>A
c.63G>A (p.Leu21=)
c.-496G>A (n.-496G>A)
1g.17004818_17004834delinsCAGGCTGGGGAAGCAGGCA1149144127ATP13A2c.348-13_351delinsCCTGCTTCCCCAGCCTG
c.82-13_85delinsCCTGCTTCCCCAGCCTG
c.325-13_328delinsCCTGCTTCCCCAGCCTG
c.274-13_277delinsCCTGCTTCCCCAGCCTG
c.60-13_63delinsCCTGCTTCCCCAGCCTG
c.-499-13_-496delinsCCTGCTTCCCCAGCCTG
1g.17004822_17004834delCA276125ATP13A2c.348-9_351del
c.82-9_85del
c.325-9_328del
c.274-9_277del
c.60-9_63del
c.-499-9_-496del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17004819A>CCA338263625ATP13A2c.350T>G (p.Leu117Arg)
c.84T>G
c.327T>G
c.276T>G
c.62T>G (p.Leu21Arg)
c.-497T>G (n.-497T>G)
1g.17004819A>GCA338263627ATP13A2c.350T>C (p.Leu117Pro)
c.84T>C
c.327T>C
c.276T>C
c.62T>C (p.Leu21Pro)
c.-497T>C (n.-497T>C)
1g.17004819A>TCA338263628ATP13A2c.350T>A (p.Leu117Gln)
c.84T>A
c.327T>A
c.276T>A
c.62T>A (p.Leu21Gln)
c.-497T>A (n.-497T>A)
1g.17004820G>ACA637663ATP13A2c.349C>T (p.Leu117=)
c.83C>T
c.326C>T
c.275C>T
c.61C>T (p.Leu21=)
c.-498C>T (n.-498C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.17004820G>CCA338263631ATP13A2c.349C>G (p.Leu117Val)
c.83C>G
c.326C>G
c.275C>G
c.61C>G (p.Leu21Val)
c.-498C>G (n.-498C>G)
1g.17004820G=CA1156072621ATP13A2c.349C= (p.Leu117=)
c.83C=
c.326C=
c.275C=
c.61C= (p.Leu21=)
c.-498C= (n.-498C=)
1g.17004820G>TCA338263630ATP13A2c.349C>A (p.Leu117Met)
c.83C>A
c.326C>A
c.275C>A
c.61C>A (p.Leu21Met)
c.-498C>A (n.-498C>A)
1g.17004821G>ACA416071781ATP13A2c.348C>T (p.Ser116=)
c.82C>T
c.325C>T
c.274C>T
c.60C>T (p.Ser20=)
c.-499C>T (n.-499C>T)
1g.17004821G>CCA338263633ATP13A2c.348C>G (p.Ser116Arg)
c.82C>G
c.325C>G
c.274C>G
c.60C>G (p.Ser20Arg)
c.-499C>G (n.-499C>G)
 ClinVar dbSNP gnomAD v4
1g.17004821G=CA1156072626ATP13A2c.348C= (p.Ser116=)
c.82C=
c.325C=
c.274C=
c.60C= (p.Ser20=)
c.-499C= (n.-499C=)
1g.17004821G>TCA338263632ATP13A2c.348C>A (p.Ser116Arg)
c.82C>A
c.325C>A
c.274C>A
c.60C>A (p.Ser20Arg)
c.-499C>A (n.-499C>A)
1g.17004822C>ACA338263636ATP13A2c.348-1G>T (n.348-1G>T)
c.82-1G>T
c.325-1G>T
c.274-1G>T
c.60-1G>T (n.60-1G>T)
c.-499-1G>T (n.-499-1G>T)
1g.17004822C>GCA338263635ATP13A2c.348-1G>C (n.348-1G>C)
c.82-1G>C
c.325-1G>C
c.274-1G>C
c.60-1G>C (n.60-1G>C)
c.-499-1G>C (n.-499-1G>C)
1g.17004822C>TCA338263637ATP13A2c.348-1G>A (n.348-1G>A)
c.82-1G>A
c.325-1G>A
c.274-1G>A
c.60-1G>A (n.60-1G>A)
c.-499-1G>A (n.-499-1G>A)
1g.17004823T>ACA338263638ATP13A2c.348-2A>T (n.348-2A>T)
c.82-2A>T
c.325-2A>T
c.274-2A>T
c.60-2A>T (n.60-2A>T)
c.-499-2A>T (n.-499-2A>T)
1g.17004823T>CCA338263639ATP13A2c.348-2A>G (n.348-2A>G)
c.82-2A>G
c.325-2A>G
c.274-2A>G
c.60-2A>G (n.60-2A>G)
c.-499-2A>G (n.-499-2A>G)
 COSMIC COSMIC
1g.17004823T>GCA338263640ATP13A2c.348-2A>C (n.348-2A>C)
c.82-2A>C
c.325-2A>C
c.274-2A>C
c.60-2A>C (n.60-2A>C)
c.-499-2A>C (n.-499-2A>C)
1g.17004824G>ACA416071820ATP13A2c.348-3C>T (n.348-3C>T)
c.82-3C>T
c.325-3C>T
c.274-3C>T
c.60-3C>T (n.60-3C>T)
c.-499-3C>T (n.-499-3C>T)
1g.17004824G>CCA416071821ATP13A2c.348-3C>G (n.348-3C>G)
c.82-3C>G
c.325-3C>G
c.274-3C>G
c.60-3C>G (n.60-3C>G)
c.-499-3C>G (n.-499-3C>G)
1g.17004824G>TCA416071823ATP13A2c.348-3C>A (n.348-3C>A)
c.82-3C>A
c.325-3C>A
c.274-3C>A
c.60-3C>A (n.60-3C>A)
c.-499-3C>A (n.-499-3C>A)
1g.17004825G>ACA416071826ATP13A2c.348-4C>T (n.348-4C>T)
c.82-4C>T
c.325-4C>T
c.274-4C>T
c.60-4C>T (n.60-4C>T)
c.-499-4C>T (n.-499-4C>T)
1g.17004825G>CCA416071827ATP13A2c.348-4C>G (n.348-4C>G)
c.82-4C>G
c.325-4C>G
c.274-4C>G
c.60-4C>G (n.60-4C>G)
c.-499-4C>G (n.-499-4C>G)
1g.17004825G=CA1156072628ATP13A2c.348-4C= (n.348-4C=)
c.82-4C=
c.325-4C=
c.274-4C=
c.60-4C= (n.60-4C=)
c.-499-4C= (n.-499-4C=)
1g.17004825G>TCA416071830ATP13A2c.348-4C>A (n.348-4C>A)
c.82-4C>A
c.325-4C>A
c.274-4C>A
c.60-4C>A (n.60-4C>A)
c.-499-4C>A (n.-499-4C>A)
 dbSNP
1g.17004826G>ACA416071833ATP13A2c.348-5C>T (n.348-5C>T)
c.82-5C>T
c.325-5C>T
c.274-5C>T
c.60-5C>T (n.60-5C>T)
c.-499-5C>T (n.-499-5C>T)
1g.17004826G>CCA416071835ATP13A2c.348-5C>G (n.348-5C>G)
c.82-5C>G
c.325-5C>G
c.274-5C>G
c.60-5C>G (n.60-5C>G)
c.-499-5C>G (n.-499-5C>G)
1g.17004826G>TCA416071837ATP13A2c.348-5C>A (n.348-5C>A)
c.82-5C>A
c.325-5C>A
c.274-5C>A
c.60-5C>A (n.60-5C>A)
c.-499-5C>A (n.-499-5C>A)
 gnomAD v4
1g.17004827G>ACA416071841ATP13A2c.348-6C>T (n.348-6C>T)
c.82-6C>T
c.325-6C>T
c.274-6C>T
c.60-6C>T (n.60-6C>T)
c.-499-6C>T (n.-499-6C>T)
1g.17004827G>CCA416071852ATP13A2c.348-6C>G (n.348-6C>G)
c.82-6C>G
c.325-6C>G
c.274-6C>G
c.60-6C>G (n.60-6C>G)
c.-499-6C>G (n.-499-6C>G)
1g.17004827G>TCA416071849ATP13A2c.348-6C>A (n.348-6C>A)
c.82-6C>A
c.325-6C>A
c.274-6C>A
c.60-6C>A (n.60-6C>A)
c.-499-6C>A (n.-499-6C>A)
1g.17004828A>CCA416071855ATP13A2c.348-7T>G (n.348-7T>G)
c.82-7T>G
c.325-7T>G
c.274-7T>G
c.60-7T>G (n.60-7T>G)
c.-499-7T>G (n.-499-7T>G)
1g.17004828A>GCA416071858ATP13A2c.348-7T>C (n.348-7T>C)
c.82-7T>C
c.325-7T>C
c.274-7T>C
c.60-7T>C (n.60-7T>C)
c.-499-7T>C (n.-499-7T>C)
1g.17004828A>TCA416071864ATP13A2c.348-7T>A (n.348-7T>A)
c.82-7T>A
c.325-7T>A
c.274-7T>A
c.60-7T>A (n.60-7T>A)
c.-499-7T>A (n.-499-7T>A)
1g.17004829A>CCA416071866ATP13A2c.348-8T>G (n.348-8T>G)
c.82-8T>G
c.325-8T>G
c.274-8T>G
c.60-8T>G (n.60-8T>G)
c.-499-8T>G (n.-499-8T>G)
1g.17004829A>GCA416071869ATP13A2c.348-8T>C (n.348-8T>C)
c.82-8T>C
c.325-8T>C
c.274-8T>C
c.60-8T>C (n.60-8T>C)
c.-499-8T>C (n.-499-8T>C)
 gnomAD v4
1g.17004829A>TCA416071871ATP13A2c.348-8T>A (n.348-8T>A)
c.82-8T>A
c.325-8T>A
c.274-8T>A
c.60-8T>A (n.60-8T>A)
c.-499-8T>A (n.-499-8T>A)
1g.17004830G>ACA416071876ATP13A2c.348-9C>T (n.348-9C>T)
c.82-9C>T
c.325-9C>T
c.274-9C>T
c.60-9C>T (n.60-9C>T)
c.-499-9C>T (n.-499-9C>T)
1g.17004830G>CCA416071879ATP13A2c.348-9C>G (n.348-9C>G)
c.82-9C>G
c.325-9C>G
c.274-9C>G
c.60-9C>G (n.60-9C>G)
c.-499-9C>G (n.-499-9C>G)
1g.17004830G>TCA416071882ATP13A2c.348-9C>A (n.348-9C>A)
c.82-9C>A
c.325-9C>A
c.274-9C>A
c.60-9C>A (n.60-9C>A)
c.-499-9C>A (n.-499-9C>A)
1g.17004831C>ACA416071883ATP13A2c.348-10G>T (n.348-10G>T)
c.82-10G>T
c.325-10G>T
c.274-10G>T
c.60-10G>T (n.60-10G>T)
c.-499-10G>T (n.-499-10G>T)
1g.17004831C=CA1156072631ATP13A2c.348-10G= (n.348-10G=)
c.82-10G=
c.325-10G=
c.274-10G=
c.60-10G= (n.60-10G=)
c.-499-10G= (n.-499-10G=)
1g.17004831C>GCA416071885ATP13A2c.348-10G>C (n.348-10G>C)
c.82-10G>C
c.325-10G>C
c.274-10G>C
c.60-10G>C (n.60-10G>C)
c.-499-10G>C (n.-499-10G>C)
 dbSNP
1g.17004831C>TCA416071884ATP13A2c.348-10G>A (n.348-10G>A)
c.82-10G>A
c.325-10G>A
c.274-10G>A
c.60-10G>A (n.60-10G>A)
c.-499-10G>A (n.-499-10G>A)
 dbSNP gnomAD v2 COSMIC COSMIC
1g.17004832A>CCA416071886ATP13A2c.348-11T>G (n.348-11T>G)
c.82-11T>G
c.325-11T>G
c.274-11T>G
c.60-11T>G (n.60-11T>G)
c.-499-11T>G (n.-499-11T>G)
1g.17004832A>GCA416071889ATP13A2c.348-11T>C (n.348-11T>C)
c.82-11T>C
c.325-11T>C
c.274-11T>C
c.60-11T>C (n.60-11T>C)
c.-499-11T>C (n.-499-11T>C)
 dbSNP
1g.17004832A>TCA416071891ATP13A2c.348-11T>A (n.348-11T>A)
c.82-11T>A
c.325-11T>A
c.274-11T>A
c.60-11T>A (n.60-11T>A)
c.-499-11T>A (n.-499-11T>A)
1g.17004833G>ACA416071897ATP13A2c.348-12C>T (n.348-12C>T)
c.82-12C>T
c.325-12C>T
c.274-12C>T
c.60-12C>T (n.60-12C>T)
c.-499-12C>T (n.-499-12C>T)
1g.17004833G>CCA416071900ATP13A2c.348-12C>G (n.348-12C>G)
c.82-12C>G
c.325-12C>G
c.274-12C>G
c.60-12C>G (n.60-12C>G)
c.-499-12C>G (n.-499-12C>G)
1g.17004833G>TCA416071902ATP13A2c.348-12C>A (n.348-12C>A)
c.82-12C>A
c.325-12C>A
c.274-12C>A
c.60-12C>A (n.60-12C>A)
c.-499-12C>A (n.-499-12C>A)
 COSMIC
1g.17004834G>ACA416071906ATP13A2c.348-13C>T (n.348-13C>T)
c.82-13C>T
c.325-13C>T
c.274-13C>T
c.60-13C>T (n.60-13C>T)
c.-499-13C>T (n.-499-13C>T)
1g.17004834G>CCA416071908ATP13A2c.348-13C>G (n.348-13C>G)
c.82-13C>G
c.325-13C>G
c.274-13C>G
c.60-13C>G (n.60-13C>G)
c.-499-13C>G (n.-499-13C>G)
1g.17004834G>TCA416071904ATP13A2c.348-13C>A (n.348-13C>A)
c.82-13C>A
c.325-13C>A
c.274-13C>A
c.60-13C>A (n.60-13C>A)
c.-499-13C>A (n.-499-13C>A)
1g.17004835T>ACA416071910ATP13A2c.348-14A>T (n.348-14A>T)
c.82-14A>T
c.325-14A>T
c.274-14A>T
c.60-14A>T (n.60-14A>T)
c.-499-14A>T (n.-499-14A>T)
1g.17004835T>CCA416071920ATP13A2c.348-14A>G (n.348-14A>G)
c.82-14A>G
c.325-14A>G
c.274-14A>G
c.60-14A>G (n.60-14A>G)
c.-499-14A>G (n.-499-14A>G)
1g.17004835T>GCA416071912ATP13A2c.348-14A>C (n.348-14A>C)
c.82-14A>C
c.325-14A>C
c.274-14A>C
c.60-14A>C (n.60-14A>C)
c.-499-14A>C (n.-499-14A>C)
1g.17004836G>ACA416071924ATP13A2c.348-15C>T (n.348-15C>T)
c.82-15C>T
c.325-15C>T
c.274-15C>T
c.60-15C>T (n.60-15C>T)
c.-499-15C>T (n.-499-15C>T)
 dbSNP
1g.17004836G>CCA416071931ATP13A2c.348-15C>G (n.348-15C>G)
c.82-15C>G
c.325-15C>G
c.274-15C>G
c.60-15C>G (n.60-15C>G)
c.-499-15C>G (n.-499-15C>G)
1g.17004836G=CA1156072634ATP13A2c.348-15C= (n.348-15C=)
c.82-15C=
c.325-15C=
c.274-15C=
c.60-15C= (n.60-15C=)
c.-499-15C= (n.-499-15C=)
1g.17004836G>TCA416071927ATP13A2c.348-15C>A (n.348-15C>A)
c.82-15C>A
c.325-15C>A
c.274-15C>A
c.60-15C>A (n.60-15C>A)
c.-499-15C>A (n.-499-15C>A)
1g.17004837A=CA1156072636ATP13A2c.348-16T= (n.348-16T=)
c.82-16T=
c.325-16T=
c.274-16T=
c.60-16T= (n.60-16T=)
c.-499-16T= (n.-499-16T=)
1g.17004837A>CCA416071938ATP13A2c.348-16T>G (n.348-16T>G)
c.82-16T>G
c.325-16T>G
c.274-16T>G
c.60-16T>G (n.60-16T>G)
c.-499-16T>G (n.-499-16T>G)
1g.17004837A>GCA416071950ATP13A2c.348-16T>C (n.348-16T>C)
c.82-16T>C
c.325-16T>C
c.274-16T>C
c.60-16T>C (n.60-16T>C)
c.-499-16T>C (n.-499-16T>C)
 ClinVar dbSNP gnomAD v4
1g.17004837A>TCA416071946ATP13A2c.348-16T>A (n.348-16T>A)
c.82-16T>A
c.325-16T>A
c.274-16T>A
c.60-16T>A (n.60-16T>A)
c.-499-16T>A (n.-499-16T>A)
1g.17004838G>ACA416071953ATP13A2c.348-17C>T (n.348-17C>T)
c.82-17C>T
c.325-17C>T
c.274-17C>T
c.60-17C>T (n.60-17C>T)
c.-499-17C>T (n.-499-17C>T)
 ClinVar
1g.17004838G>CCA416071959ATP13A2c.348-17C>G (n.348-17C>G)
c.82-17C>G
c.325-17C>G
c.274-17C>G
c.60-17C>G (n.60-17C>G)
c.-499-17C>G (n.-499-17C>G)
1g.17004838G>TCA416071957ATP13A2c.348-17C>A (n.348-17C>A)
c.82-17C>A
c.325-17C>A
c.274-17C>A
c.60-17C>A (n.60-17C>A)
c.-499-17C>A (n.-499-17C>A)
 gnomAD v4

Number of alleles fetched