Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.16986160G>ACA636437ATP13A2c.*61C>T (n.*61C>T)
c.3302C>T (p.Pro1101Leu)
n.1650C>T
c.1022C>T (p.Pro341Leu)
c.3434C>T (p.Pro1145Leu)
c.3431C>T (p.Pro1144Leu)
c.3419C>T (p.Pro1140Leu)
c.3407C>T (p.Pro1136Leu)
c.3374C>T (p.Pro1125Leu)
c.3317C>T (p.Pro1106Leu)
c.3416C>T (p.Pro1139Leu)
c.3392C>T (p.Pro1131Leu)
c.3227C>T (p.Pro1076Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986160G>CCA338231432ATP13A2c.*61C>G (n.*61C>G)
c.3302C>G (p.Pro1101Arg)
n.1650C>G
c.1022C>G (p.Pro341Arg)
c.3434C>G (p.Pro1145Arg)
c.3431C>G (p.Pro1144Arg)
c.3419C>G (p.Pro1140Arg)
c.3407C>G (p.Pro1136Arg)
c.3374C>G (p.Pro1125Arg)
c.3317C>G (p.Pro1106Arg)
c.3416C>G (p.Pro1139Arg)
c.3392C>G (p.Pro1131Arg)
c.3227C>G (p.Pro1076Arg)
1g.16986160G=CA1156048979ATP13A2c.*61C= (n.*61C=)
c.3302C= (p.Pro1101=)
n.1650C=
c.1022C= (p.Pro341=)
c.3434C= (p.Pro1145=)
c.3431C= (p.Pro1144=)
c.3419C= (p.Pro1140=)
c.3407C= (p.Pro1136=)
c.3374C= (p.Pro1125=)
c.3317C= (p.Pro1106=)
c.3416C= (p.Pro1139=)
c.3392C= (p.Pro1131=)
c.3227C= (p.Pro1076=)
1g.16986160G>TCA338231433ATP13A2c.*61C>A (n.*61C>A)
c.3302C>A (p.Pro1101His)
n.1650C>A
c.1022C>A (p.Pro341His)
c.3434C>A (p.Pro1145His)
c.3431C>A (p.Pro1144His)
c.3419C>A (p.Pro1140His)
c.3407C>A (p.Pro1136His)
c.3374C>A (p.Pro1125His)
c.3317C>A (p.Pro1106His)
c.3416C>A (p.Pro1139His)
c.3392C>A (p.Pro1131His)
c.3227C>A (p.Pro1076His)
 COSMIC
1g.16986161G>ACA338231434ATP13A2c.*60C>T (n.*60C>T)
c.3301C>T (p.Pro1101Ser)
n.1649C>T
c.1021C>T (p.Pro341Ser)
c.3433C>T (p.Pro1145Ser)
c.3430C>T (p.Pro1144Ser)
c.3418C>T (p.Pro1140Ser)
c.3406C>T (p.Pro1136Ser)
c.3373C>T (p.Pro1125Ser)
c.3316C>T (p.Pro1106Ser)
c.3415C>T (p.Pro1139Ser)
c.3391C>T (p.Pro1131Ser)
c.3226C>T (p.Pro1076Ser)
1g.16986161G>CCA338231436ATP13A2c.*60C>G (n.*60C>G)
c.3301C>G (p.Pro1101Ala)
n.1649C>G
c.1021C>G (p.Pro341Ala)
c.3433C>G (p.Pro1145Ala)
c.3430C>G (p.Pro1144Ala)
c.3418C>G (p.Pro1140Ala)
c.3406C>G (p.Pro1136Ala)
c.3373C>G (p.Pro1125Ala)
c.3316C>G (p.Pro1106Ala)
c.3415C>G (p.Pro1139Ala)
c.3391C>G (p.Pro1131Ala)
c.3226C>G (p.Pro1076Ala)
1g.16986161G>TCA338231437ATP13A2c.*60C>A (n.*60C>A)
c.3301C>A (p.Pro1101Thr)
n.1649C>A
c.1021C>A (p.Pro341Thr)
c.3433C>A (p.Pro1145Thr)
c.3430C>A (p.Pro1144Thr)
c.3418C>A (p.Pro1140Thr)
c.3406C>A (p.Pro1136Thr)
c.3373C>A (p.Pro1125Thr)
c.3316C>A (p.Pro1106Thr)
c.3415C>A (p.Pro1139Thr)
c.3391C>A (p.Pro1131Thr)
c.3226C>A (p.Pro1076Thr)
1g.16986162G>ACA1156048990ATP13A2c.*59C>T (n.*59C>T)
c.3300C>T (p.Asp1100=)
n.1648C>T
c.1020C>T (p.Asp340=)
c.3432C>T (p.Asp1144=)
c.3429C>T (p.Asp1143=)
c.3417C>T (p.Asp1139=)
c.3405C>T (p.Asp1135=)
c.3372C>T (p.Asp1124=)
c.3315C>T (p.Asp1105=)
c.3414C>T (p.Asp1138=)
c.3390C>T (p.Asp1130=)
c.3225C>T (p.Asp1075=)
 dbSNP gnomAD v4
1g.16986162G>CCA338231440ATP13A2c.*59C>G (n.*59C>G)
c.3300C>G (p.Asp1100Glu)
n.1648C>G
c.1020C>G (p.Asp340Glu)
c.3432C>G (p.Asp1144Glu)
c.3429C>G (p.Asp1143Glu)
c.3417C>G (p.Asp1139Glu)
c.3405C>G (p.Asp1135Glu)
c.3372C>G (p.Asp1124Glu)
c.3315C>G (p.Asp1105Glu)
c.3414C>G (p.Asp1138Glu)
c.3390C>G (p.Asp1130Glu)
c.3225C>G (p.Asp1075Glu)
1g.16986162G=CA1156048987ATP13A2c.*59C= (n.*59C=)
c.3300C= (p.Asp1100=)
n.1648C=
c.1020C= (p.Asp340=)
c.3432C= (p.Asp1144=)
c.3429C= (p.Asp1143=)
c.3417C= (p.Asp1139=)
c.3405C= (p.Asp1135=)
c.3372C= (p.Asp1124=)
c.3315C= (p.Asp1105=)
c.3414C= (p.Asp1138=)
c.3390C= (p.Asp1130=)
c.3225C= (p.Asp1075=)
1g.16986162G>TCA338231442ATP13A2c.*59C>A (n.*59C>A)
c.3300C>A (p.Asp1100Glu)
n.1648C>A
c.1020C>A (p.Asp340Glu)
c.3432C>A (p.Asp1144Glu)
c.3429C>A (p.Asp1143Glu)
c.3417C>A (p.Asp1139Glu)
c.3405C>A (p.Asp1135Glu)
c.3372C>A (p.Asp1124Glu)
c.3315C>A (p.Asp1105Glu)
c.3414C>A (p.Asp1138Glu)
c.3390C>A (p.Asp1130Glu)
c.3225C>A (p.Asp1075Glu)
1g.16986163T>ACA338231443ATP13A2c.*58A>T (n.*58A>T)
c.3299A>T (p.Asp1100Val)
n.1647A>T
c.1019A>T (p.Asp340Val)
c.3431A>T (p.Asp1144Val)
c.3428A>T (p.Asp1143Val)
c.3416A>T (p.Asp1139Val)
c.3404A>T (p.Asp1135Val)
c.3371A>T (p.Asp1124Val)
c.3314A>T (p.Asp1105Val)
c.3413A>T (p.Asp1138Val)
c.3389A>T (p.Asp1130Val)
c.3224A>T (p.Asp1075Val)
1g.16986163T>CCA636438ATP13A2c.*58A>G (n.*58A>G)
c.3299A>G (p.Asp1100Gly)
n.1647A>G
c.1019A>G (p.Asp340Gly)
c.3431A>G (p.Asp1144Gly)
c.3428A>G (p.Asp1143Gly)
c.3416A>G (p.Asp1139Gly)
c.3404A>G (p.Asp1135Gly)
c.3371A>G (p.Asp1124Gly)
c.3314A>G (p.Asp1105Gly)
c.3413A>G (p.Asp1138Gly)
c.3389A>G (p.Asp1130Gly)
c.3224A>G (p.Asp1075Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986163T>GCA338231454ATP13A2c.*58A>C (n.*58A>C)
c.3299A>C (p.Asp1100Ala)
n.1647A>C
c.1019A>C (p.Asp340Ala)
c.3431A>C (p.Asp1144Ala)
c.3428A>C (p.Asp1143Ala)
c.3416A>C (p.Asp1139Ala)
c.3404A>C (p.Asp1135Ala)
c.3371A>C (p.Asp1124Ala)
c.3314A>C (p.Asp1105Ala)
c.3413A>C (p.Asp1138Ala)
c.3389A>C (p.Asp1130Ala)
c.3224A>C (p.Asp1075Ala)
 gnomAD v4
1g.16986163T=CA1143642472ATP13A2c.*58A= (n.*58A=)
c.3299A= (p.Asp1100=)
n.1647A=
c.1019A= (p.Asp340=)
c.3431A= (p.Asp1144=)
c.3428A= (p.Asp1143=)
c.3416A= (p.Asp1139=)
c.3404A= (p.Asp1135=)
c.3371A= (p.Asp1124=)
c.3314A= (p.Asp1105=)
c.3413A= (p.Asp1138=)
c.3389A= (p.Asp1130=)
c.3224A= (p.Asp1075=)
1g.16986164C>ACA338231471ATP13A2c.*57G>T (n.*57G>T)
c.3298G>T (p.Asp1100Tyr)
n.1646G>T
c.1018G>T (p.Asp340Tyr)
c.3430G>T (p.Asp1144Tyr)
c.3427G>T (p.Asp1143Tyr)
c.3415G>T (p.Asp1139Tyr)
c.3403G>T (p.Asp1135Tyr)
c.3370G>T (p.Asp1124Tyr)
c.3313G>T (p.Asp1105Tyr)
c.3412G>T (p.Asp1138Tyr)
c.3388G>T (p.Asp1130Tyr)
c.3223G>T (p.Asp1075Tyr)
1g.16986164C>GCA338231468ATP13A2c.*57G>C (n.*57G>C)
c.3298G>C (p.Asp1100His)
n.1646G>C
c.1018G>C (p.Asp340His)
c.3430G>C (p.Asp1144His)
c.3427G>C (p.Asp1143His)
c.3415G>C (p.Asp1139His)
c.3403G>C (p.Asp1135His)
c.3370G>C (p.Asp1124His)
c.3313G>C (p.Asp1105His)
c.3412G>C (p.Asp1138His)
c.3388G>C (p.Asp1130His)
c.3223G>C (p.Asp1075His)
1g.16986164C>TCA338231457ATP13A2c.*57G>A (n.*57G>A)
c.3298G>A (p.Asp1100Asn)
n.1646G>A
c.1018G>A (p.Asp340Asn)
c.3430G>A (p.Asp1144Asn)
c.3427G>A (p.Asp1143Asn)
c.3415G>A (p.Asp1139Asn)
c.3403G>A (p.Asp1135Asn)
c.3370G>A (p.Asp1124Asn)
c.3313G>A (p.Asp1105Asn)
c.3412G>A (p.Asp1138Asn)
c.3388G>A (p.Asp1130Asn)
c.3223G>A (p.Asp1075Asn)
1g.16986165C=CA1156048997ATP13A2c.*56G= (n.*56G=)
c.3297G= (p.Leu1099=)
n.1645G=
c.1017G= (p.Leu339=)
c.3429G= (p.Leu1143=)
c.3426G= (p.Leu1142=)
c.3414G= (p.Leu1138=)
c.3402G= (p.Leu1134=)
c.3369G= (p.Leu1123=)
c.3312G= (p.Leu1104=)
c.3411G= (p.Leu1137=)
c.3387G= (p.Leu1129=)
c.3222G= (p.Leu1074=)
1g.16986165C>GCA636439ATP13A2c.*56G>C (n.*56G>C)
c.3297G>C (p.Leu1099=)
n.1645G>C
c.1017G>C (p.Leu339=)
c.3429G>C (p.Leu1143=)
c.3426G>C (p.Leu1142=)
c.3414G>C (p.Leu1138=)
c.3402G>C (p.Leu1134=)
c.3369G>C (p.Leu1123=)
c.3312G>C (p.Leu1104=)
c.3411G>C (p.Leu1137=)
c.3387G>C (p.Leu1129=)
c.3222G>C (p.Leu1074=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986166A=CA1156049002ATP13A2c.*55T= (n.*55T=)
c.3296T= (p.Leu1099=)
n.1644T=
c.1016T= (p.Leu339=)
c.3428T= (p.Leu1143=)
c.3425T= (p.Leu1142=)
c.3413T= (p.Leu1138=)
c.3401T= (p.Leu1134=)
c.3368T= (p.Leu1123=)
c.3311T= (p.Leu1104=)
c.3410T= (p.Leu1137=)
c.3386T= (p.Leu1129=)
c.3221T= (p.Leu1074=)
1g.16986166A>CCA338231475ATP13A2c.*55T>G (n.*55T>G)
c.3296T>G (p.Leu1099Arg)
n.1644T>G
c.1016T>G (p.Leu339Arg)
c.3428T>G (p.Leu1143Arg)
c.3425T>G (p.Leu1142Arg)
c.3413T>G (p.Leu1138Arg)
c.3401T>G (p.Leu1134Arg)
c.3368T>G (p.Leu1123Arg)
c.3311T>G (p.Leu1104Arg)
c.3410T>G (p.Leu1137Arg)
c.3386T>G (p.Leu1129Arg)
c.3221T>G (p.Leu1074Arg)
1g.16986166A>GCA636440ATP13A2c.*55T>C (n.*55T>C)
c.3296T>C (p.Leu1099Pro)
n.1644T>C
c.1016T>C (p.Leu339Pro)
c.3428T>C (p.Leu1143Pro)
c.3425T>C (p.Leu1142Pro)
c.3413T>C (p.Leu1138Pro)
c.3401T>C (p.Leu1134Pro)
c.3368T>C (p.Leu1123Pro)
c.3311T>C (p.Leu1104Pro)
c.3410T>C (p.Leu1137Pro)
c.3386T>C (p.Leu1129Pro)
c.3221T>C (p.Leu1074Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986166A>TCA338231479ATP13A2c.*55T>A (n.*55T>A)
c.3296T>A (p.Leu1099Gln)
n.1644T>A
c.1016T>A (p.Leu339Gln)
c.3428T>A (p.Leu1143Gln)
c.3425T>A (p.Leu1142Gln)
c.3413T>A (p.Leu1138Gln)
c.3401T>A (p.Leu1134Gln)
c.3368T>A (p.Leu1123Gln)
c.3311T>A (p.Leu1104Gln)
c.3410T>A (p.Leu1137Gln)
c.3386T>A (p.Leu1129Gln)
c.3221T>A (p.Leu1074Gln)
1g.16986167G>ACA2643667989ATP13A2c.*54C>T (n.*54C>T)
c.3295C>T (p.Leu1099=)
n.1643C>T
c.1015C>T (p.Leu339=)
c.3427C>T (p.Leu1143=)
c.3424C>T (p.Leu1142=)
c.3412C>T (p.Leu1138=)
c.3400C>T (p.Leu1134=)
c.3367C>T (p.Leu1123=)
c.3310C>T (p.Leu1104=)
c.3409C>T (p.Leu1137=)
c.3385C>T (p.Leu1129=)
c.3220C>T (p.Leu1074=)
 gnomAD v4
1g.16986167G>CCA338231485ATP13A2c.*54C>G (n.*54C>G)
c.3295C>G (p.Leu1099Val)
n.1643C>G
c.1015C>G (p.Leu339Val)
c.3427C>G (p.Leu1143Val)
c.3424C>G (p.Leu1142Val)
c.3412C>G (p.Leu1138Val)
c.3400C>G (p.Leu1134Val)
c.3367C>G (p.Leu1123Val)
c.3310C>G (p.Leu1104Val)
c.3409C>G (p.Leu1137Val)
c.3385C>G (p.Leu1129Val)
c.3220C>G (p.Leu1074Val)
 gnomAD v4
1g.16986167G>TCA338231487ATP13A2c.*54C>A (n.*54C>A)
c.3295C>A (p.Leu1099Met)
n.1643C>A
c.1015C>A (p.Leu339Met)
c.3427C>A (p.Leu1143Met)
c.3424C>A (p.Leu1142Met)
c.3412C>A (p.Leu1138Met)
c.3400C>A (p.Leu1134Met)
c.3367C>A (p.Leu1123Met)
c.3310C>A (p.Leu1104Met)
c.3409C>A (p.Leu1137Met)
c.3385C>A (p.Leu1129Met)
c.3220C>A (p.Leu1074Met)
1g.16986168T>ACA338231488ATP13A2c.*53A>T (n.*53A>T)
c.3294A>T (p.Gln1098His)
n.1642A>T
c.1014A>T (p.Gln338His)
c.3426A>T (p.Gln1142His)
c.3423A>T (p.Gln1141His)
c.3411A>T (p.Gln1137His)
c.3399A>T (p.Gln1133His)
c.3366A>T (p.Gln1122His)
c.3309A>T (p.Gln1103His)
c.3408A>T (p.Gln1136His)
c.3384A>T (p.Gln1128His)
c.3219A>T (p.Gln1073His)
1g.16986168T>CCA1156049008ATP13A2c.*53A>G (n.*53A>G)
c.3294A>G (p.Gln1098=)
n.1642A>G
c.1014A>G (p.Gln338=)
c.3426A>G (p.Gln1142=)
c.3423A>G (p.Gln1141=)
c.3411A>G (p.Gln1137=)
c.3399A>G (p.Gln1133=)
c.3366A>G (p.Gln1122=)
c.3309A>G (p.Gln1103=)
c.3408A>G (p.Gln1136=)
c.3384A>G (p.Gln1128=)
c.3219A>G (p.Gln1073=)
 dbSNP gnomAD v4
1g.16986168T>GCA338231490ATP13A2c.*53A>C (n.*53A>C)
c.3294A>C (p.Gln1098His)
n.1642A>C
c.1014A>C (p.Gln338His)
c.3426A>C (p.Gln1142His)
c.3423A>C (p.Gln1141His)
c.3411A>C (p.Gln1137His)
c.3399A>C (p.Gln1133His)
c.3366A>C (p.Gln1122His)
c.3309A>C (p.Gln1103His)
c.3408A>C (p.Gln1136His)
c.3384A>C (p.Gln1128His)
c.3219A>C (p.Gln1073His)
1g.16986168T=CA1156049007ATP13A2c.*53A= (n.*53A=)
c.3294A= (p.Gln1098=)
n.1642A=
c.1014A= (p.Gln338=)
c.3426A= (p.Gln1142=)
c.3423A= (p.Gln1141=)
c.3411A= (p.Gln1137=)
c.3399A= (p.Gln1133=)
c.3366A= (p.Gln1122=)
c.3309A= (p.Gln1103=)
c.3408A= (p.Gln1136=)
c.3384A= (p.Gln1128=)
c.3219A= (p.Gln1073=)
1g.16986169T>ACA338231493ATP13A2c.*52A>T (n.*52A>T)
c.3293A>T (p.Gln1098Leu)
n.1641A>T
c.1013A>T (p.Gln338Leu)
c.3425A>T (p.Gln1142Leu)
c.3422A>T (p.Gln1141Leu)
c.3410A>T (p.Gln1137Leu)
c.3398A>T (p.Gln1133Leu)
c.3365A>T (p.Gln1122Leu)
c.3308A>T (p.Gln1103Leu)
c.3407A>T (p.Gln1136Leu)
c.3383A>T (p.Gln1128Leu)
c.3218A>T (p.Gln1073Leu)
1g.16986169T>CCA338231496ATP13A2c.*52A>G (n.*52A>G)
c.3293A>G (p.Gln1098Arg)
n.1641A>G
c.1013A>G (p.Gln338Arg)
c.3425A>G (p.Gln1142Arg)
c.3422A>G (p.Gln1141Arg)
c.3410A>G (p.Gln1137Arg)
c.3398A>G (p.Gln1133Arg)
c.3365A>G (p.Gln1122Arg)
c.3308A>G (p.Gln1103Arg)
c.3407A>G (p.Gln1136Arg)
c.3383A>G (p.Gln1128Arg)
c.3218A>G (p.Gln1073Arg)
 dbSNP
1g.16986169T>GCA338231498ATP13A2c.*52A>C (n.*52A>C)
c.3293A>C (p.Gln1098Pro)
n.1641A>C
c.1013A>C (p.Gln338Pro)
c.3425A>C (p.Gln1142Pro)
c.3422A>C (p.Gln1141Pro)
c.3410A>C (p.Gln1137Pro)
c.3398A>C (p.Gln1133Pro)
c.3365A>C (p.Gln1122Pro)
c.3308A>C (p.Gln1103Pro)
c.3407A>C (p.Gln1136Pro)
c.3383A>C (p.Gln1128Pro)
c.3218A>C (p.Gln1073Pro)
 gnomAD v4
1g.16986169T=CA1156049011ATP13A2c.*52A= (n.*52A=)
c.3293A= (p.Gln1098=)
n.1641A=
c.1013A= (p.Gln338=)
c.3425A= (p.Gln1142=)
c.3422A= (p.Gln1141=)
c.3410A= (p.Gln1137=)
c.3398A= (p.Gln1133=)
c.3365A= (p.Gln1122=)
c.3308A= (p.Gln1103=)
c.3407A= (p.Gln1136=)
c.3383A= (p.Gln1128=)
c.3218A= (p.Gln1073=)
1g.16986172_16986174dupCA1156049012ATP13A2c.*50_*52dup (n.*50_*52dup)
c.3291_3293dup (p.His1097_Gln1098insHis)
n.1639_1641dup
c.1011_1013dup (p.His337_Gln338insHis)
c.3423_3425dup (p.His1141_Gln1142insHis)
c.3420_3422dup (p.His1140_Gln1141insHis)
c.3408_3410dup (p.His1136_Gln1137insHis)
c.3396_3398dup (p.His1132_Gln1133insHis)
c.3363_3365dup (p.His1121_Gln1122insHis)
c.3306_3308dup (p.His1102_Gln1103insHis)
c.3405_3407dup (p.His1135_Gln1136insHis)
c.3381_3383dup (p.His1127_Gln1128insHis)
c.3216_3218dup (p.His1072_Gln1073insHis)
 dbSNP
1g.16986170G>ACA338231500ATP13A2c.*51C>T (n.*51C>T)
c.3292C>T (p.Gln1098Ter)
n.1640C>T
c.1012C>T (p.Gln338Ter)
c.3424C>T (p.Gln1142Ter)
c.3421C>T (p.Gln1141Ter)
c.3409C>T (p.Gln1137Ter)
c.3397C>T (p.Gln1133Ter)
c.3364C>T (p.Gln1122Ter)
c.3307C>T (p.Gln1103Ter)
c.3406C>T (p.Gln1136Ter)
c.3382C>T (p.Gln1128Ter)
c.3217C>T (p.Gln1073Ter)
1g.16986170G>CCA338231502ATP13A2c.*51C>G (n.*51C>G)
c.3292C>G (p.Gln1098Glu)
n.1640C>G
c.1012C>G (p.Gln338Glu)
c.3424C>G (p.Gln1142Glu)
c.3421C>G (p.Gln1141Glu)
c.3409C>G (p.Gln1137Glu)
c.3397C>G (p.Gln1133Glu)
c.3364C>G (p.Gln1122Glu)
c.3307C>G (p.Gln1103Glu)
c.3406C>G (p.Gln1136Glu)
c.3382C>G (p.Gln1128Glu)
c.3217C>G (p.Gln1073Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.16986170G=CA1156049013ATP13A2c.*51C= (n.*51C=)
c.3292C= (p.Gln1098=)
n.1640C=
c.1012C= (p.Gln338=)
c.3424C= (p.Gln1142=)
c.3421C= (p.Gln1141=)
c.3409C= (p.Gln1137=)
c.3397C= (p.Gln1133=)
c.3364C= (p.Gln1122=)
c.3307C= (p.Gln1103=)
c.3406C= (p.Gln1136=)
c.3382C= (p.Gln1128=)
c.3217C= (p.Gln1073=)
1g.16986170G>TCA338231503ATP13A2c.*51C>A (n.*51C>A)
c.3292C>A (p.Gln1098Lys)
n.1640C>A
c.1012C>A (p.Gln338Lys)
c.3424C>A (p.Gln1142Lys)
c.3421C>A (p.Gln1141Lys)
c.3409C>A (p.Gln1137Lys)
c.3397C>A (p.Gln1133Lys)
c.3364C>A (p.Gln1122Lys)
c.3307C>A (p.Gln1103Lys)
c.3406C>A (p.Gln1136Lys)
c.3382C>A (p.Gln1128Lys)
c.3217C>A (p.Gln1073Lys)
1g.16986171G>ACA521449604ATP13A2c.*50C>T (n.*50C>T)
c.3291C>T (p.His1097=)
n.1639C>T
c.1011C>T (p.His337=)
c.3423C>T (p.His1141=)
c.3420C>T (p.His1140=)
c.3408C>T (p.His1136=)
c.3396C>T (p.His1132=)
c.3363C>T (p.His1121=)
c.3306C>T (p.His1102=)
c.3405C>T (p.His1135=)
c.3381C>T (p.His1127=)
c.3216C>T (p.His1072=)
 dbSNP gnomAD v2
1g.16986171G>CCA338231505ATP13A2c.*50C>G (n.*50C>G)
c.3291C>G (p.His1097Gln)
n.1639C>G
c.1011C>G (p.His337Gln)
c.3423C>G (p.His1141Gln)
c.3420C>G (p.His1140Gln)
c.3408C>G (p.His1136Gln)
c.3396C>G (p.His1132Gln)
c.3363C>G (p.His1121Gln)
c.3306C>G (p.His1102Gln)
c.3405C>G (p.His1135Gln)
c.3381C>G (p.His1127Gln)
c.3216C>G (p.His1072Gln)
1g.16986171G=CA1156049016ATP13A2c.*50C= (n.*50C=)
c.3291C= (p.His1097=)
n.1639C=
c.1011C= (p.His337=)
c.3423C= (p.His1141=)
c.3420C= (p.His1140=)
c.3408C= (p.His1136=)
c.3396C= (p.His1132=)
c.3363C= (p.His1121=)
c.3306C= (p.His1102=)
c.3405C= (p.His1135=)
c.3381C= (p.His1127=)
c.3216C= (p.His1072=)
1g.16986171G>TCA338231504ATP13A2c.*50C>A (n.*50C>A)
c.3291C>A (p.His1097Gln)
n.1639C>A
c.1011C>A (p.His337Gln)
c.3423C>A (p.His1141Gln)
c.3420C>A (p.His1140Gln)
c.3408C>A (p.His1136Gln)
c.3396C>A (p.His1132Gln)
c.3363C>A (p.His1121Gln)
c.3306C>A (p.His1102Gln)
c.3405C>A (p.His1135Gln)
c.3381C>A (p.His1127Gln)
c.3216C>A (p.His1072Gln)
 gnomAD v4
1g.16986172T>ACA338231506ATP13A2c.*49A>T (n.*49A>T)
c.3290A>T (p.His1097Leu)
n.1638A>T
c.1010A>T (p.His337Leu)
c.3422A>T (p.His1141Leu)
c.3419A>T (p.His1140Leu)
c.3407A>T (p.His1136Leu)
c.3395A>T (p.His1132Leu)
c.3362A>T (p.His1121Leu)
c.3305A>T (p.His1102Leu)
c.3404A>T (p.His1135Leu)
c.3380A>T (p.His1127Leu)
c.3215A>T (p.His1072Leu)
1g.16986172T>CCA18624483ATP13A2c.*49A>G (n.*49A>G)
c.3290A>G (p.His1097Arg)
n.1638A>G
c.1010A>G (p.His337Arg)
c.3422A>G (p.His1141Arg)
c.3419A>G (p.His1140Arg)
c.3407A>G (p.His1136Arg)
c.3395A>G (p.His1132Arg)
c.3362A>G (p.His1121Arg)
c.3305A>G (p.His1102Arg)
c.3404A>G (p.His1135Arg)
c.3380A>G (p.His1127Arg)
c.3215A>G (p.His1072Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986172T>GCA338231509ATP13A2c.*49A>C (n.*49A>C)
c.3290A>C (p.His1097Pro)
n.1638A>C
c.1010A>C (p.His337Pro)
c.3422A>C (p.His1141Pro)
c.3419A>C (p.His1140Pro)
c.3407A>C (p.His1136Pro)
c.3395A>C (p.His1132Pro)
c.3362A>C (p.His1121Pro)
c.3305A>C (p.His1102Pro)
c.3404A>C (p.His1135Pro)
c.3380A>C (p.His1127Pro)
c.3215A>C (p.His1072Pro)
1g.16986172T=CA1147734515ATP13A2c.*49A= (n.*49A=)
c.3290A= (p.His1097=)
n.1638A=
c.1010A= (p.His337=)
c.3422A= (p.His1141=)
c.3419A= (p.His1140=)
c.3407A= (p.His1136=)
c.3395A= (p.His1132=)
c.3362A= (p.His1121=)
c.3305A= (p.His1102=)
c.3404A= (p.His1135=)
c.3380A= (p.His1127=)
c.3215A= (p.His1072=)
1g.16986173G>ACA636441ATP13A2c.*48C>T (n.*48C>T)
c.3289C>T (p.His1097Tyr)
n.1637C>T
c.1009C>T (p.His337Tyr)
c.3421C>T (p.His1141Tyr)
c.3418C>T (p.His1140Tyr)
c.3406C>T (p.His1136Tyr)
c.3394C>T (p.His1132Tyr)
c.3361C>T (p.His1121Tyr)
c.3304C>T (p.His1102Tyr)
c.3403C>T (p.His1135Tyr)
c.3379C>T (p.His1127Tyr)
c.3214C>T (p.His1072Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986173G>CCA338231519ATP13A2c.*48C>G (n.*48C>G)
c.3289C>G (p.His1097Asp)
n.1637C>G
c.1009C>G (p.His337Asp)
c.3421C>G (p.His1141Asp)
c.3418C>G (p.His1140Asp)
c.3406C>G (p.His1136Asp)
c.3394C>G (p.His1132Asp)
c.3361C>G (p.His1121Asp)
c.3304C>G (p.His1102Asp)
c.3403C>G (p.His1135Asp)
c.3379C>G (p.His1127Asp)
c.3214C>G (p.His1072Asp)
1g.16986173G=CA1156049021ATP13A2c.*48C= (n.*48C=)
c.3289C= (p.His1097=)
n.1637C=
c.1009C= (p.His337=)
c.3421C= (p.His1141=)
c.3418C= (p.His1140=)
c.3406C= (p.His1136=)
c.3394C= (p.His1132=)
c.3361C= (p.His1121=)
c.3304C= (p.His1102=)
c.3403C= (p.His1135=)
c.3379C= (p.His1127=)
c.3214C= (p.His1072=)
1g.16986173G>TCA338231520ATP13A2c.*48C>A (n.*48C>A)
c.3289C>A (p.His1097Asn)
n.1637C>A
c.1009C>A (p.His337Asn)
c.3421C>A (p.His1141Asn)
c.3418C>A (p.His1140Asn)
c.3406C>A (p.His1136Asn)
c.3394C>A (p.His1132Asn)
c.3361C>A (p.His1121Asn)
c.3304C>A (p.His1102Asn)
c.3403C>A (p.His1135Asn)
c.3379C>A (p.His1127Asn)
c.3214C>A (p.His1072Asn)
1g.16986174G>CCA338231521ATP13A2c.*47C>G (n.*47C>G)
c.3288C>G (p.Ser1096Arg)
n.1636C>G
c.1008C>G (p.Ser336Arg)
c.3420C>G (p.Ser1140Arg)
c.3417C>G (p.Ser1139Arg)
c.3405C>G (p.Ser1135Arg)
c.3393C>G (p.Ser1131Arg)
c.3360C>G (p.Ser1120Arg)
c.3303C>G (p.Ser1101Arg)
c.3402C>G (p.Ser1134Arg)
c.3378C>G (p.Ser1126Arg)
c.3213C>G (p.Ser1071Arg)
1g.16986174G>TCA338231522ATP13A2c.*47C>A (n.*47C>A)
c.3288C>A (p.Ser1096Arg)
n.1636C>A
c.1008C>A (p.Ser336Arg)
c.3420C>A (p.Ser1140Arg)
c.3417C>A (p.Ser1139Arg)
c.3405C>A (p.Ser1135Arg)
c.3393C>A (p.Ser1131Arg)
c.3360C>A (p.Ser1120Arg)
c.3303C>A (p.Ser1101Arg)
c.3402C>A (p.Ser1134Arg)
c.3378C>A (p.Ser1126Arg)
c.3213C>A (p.Ser1071Arg)
1g.16986175C>ACA338231525ATP13A2c.*46G>T (n.*46G>T)
c.3287G>T (p.Ser1096Ile)
n.1635G>T
c.1007G>T (p.Ser336Ile)
c.3419G>T (p.Ser1140Ile)
c.3416G>T (p.Ser1139Ile)
c.3404G>T (p.Ser1135Ile)
c.3392G>T (p.Ser1131Ile)
c.3359G>T (p.Ser1120Ile)
c.3302G>T (p.Ser1101Ile)
c.3401G>T (p.Ser1134Ile)
c.3377G>T (p.Ser1126Ile)
c.3212G>T (p.Ser1071Ile)
 gnomAD v4
1g.16986175C=CA1156049022ATP13A2c.*46G= (n.*46G=)
c.3287G= (p.Ser1096=)
n.1635G=
c.1007G= (p.Ser336=)
c.3419G= (p.Ser1140=)
c.3416G= (p.Ser1139=)
c.3404G= (p.Ser1135=)
c.3392G= (p.Ser1131=)
c.3359G= (p.Ser1120=)
c.3302G= (p.Ser1101=)
c.3401G= (p.Ser1134=)
c.3377G= (p.Ser1126=)
c.3212G= (p.Ser1071=)
1g.16986175C>GCA338231533ATP13A2c.*46G>C (n.*46G>C)
c.3287G>C (p.Ser1096Thr)
n.1635G>C
c.1007G>C (p.Ser336Thr)
c.3419G>C (p.Ser1140Thr)
c.3416G>C (p.Ser1139Thr)
c.3404G>C (p.Ser1135Thr)
c.3392G>C (p.Ser1131Thr)
c.3359G>C (p.Ser1120Thr)
c.3302G>C (p.Ser1101Thr)
c.3401G>C (p.Ser1134Thr)
c.3377G>C (p.Ser1126Thr)
c.3212G>C (p.Ser1071Thr)
1g.16986175C>TCA338231535ATP13A2c.*46G>A (n.*46G>A)
c.3287G>A (p.Ser1096Asn)
n.1635G>A
c.1007G>A (p.Ser336Asn)
c.3419G>A (p.Ser1140Asn)
c.3416G>A (p.Ser1139Asn)
c.3404G>A (p.Ser1135Asn)
c.3392G>A (p.Ser1131Asn)
c.3359G>A (p.Ser1120Asn)
c.3302G>A (p.Ser1101Asn)
c.3401G>A (p.Ser1134Asn)
c.3377G>A (p.Ser1126Asn)
c.3212G>A (p.Ser1071Asn)
 dbSNP gnomAD v4
1g.16986176T>ACA338231538ATP13A2c.*45A>T (n.*45A>T)
c.3286A>T (p.Ser1096Cys)
n.1634A>T
c.1006A>T (p.Ser336Cys)
c.3418A>T (p.Ser1140Cys)
c.3415A>T (p.Ser1139Cys)
c.3403A>T (p.Ser1135Cys)
c.3391A>T (p.Ser1131Cys)
c.3358A>T (p.Ser1120Cys)
c.3301A>T (p.Ser1101Cys)
c.3400A>T (p.Ser1134Cys)
c.3376A>T (p.Ser1126Cys)
c.3211A>T (p.Ser1071Cys)
1g.16986176T>CCA338231540ATP13A2c.*45A>G (n.*45A>G)
c.3286A>G (p.Ser1096Gly)
n.1634A>G
c.1006A>G (p.Ser336Gly)
c.3418A>G (p.Ser1140Gly)
c.3415A>G (p.Ser1139Gly)
c.3403A>G (p.Ser1135Gly)
c.3391A>G (p.Ser1131Gly)
c.3358A>G (p.Ser1120Gly)
c.3301A>G (p.Ser1101Gly)
c.3400A>G (p.Ser1134Gly)
c.3376A>G (p.Ser1126Gly)
c.3211A>G (p.Ser1071Gly)
1g.16986176T>GCA338231555ATP13A2c.*45A>C (n.*45A>C)
c.3286A>C (p.Ser1096Arg)
n.1634A>C
c.1006A>C (p.Ser336Arg)
c.3418A>C (p.Ser1140Arg)
c.3415A>C (p.Ser1139Arg)
c.3403A>C (p.Ser1135Arg)
c.3391A>C (p.Ser1131Arg)
c.3358A>C (p.Ser1120Arg)
c.3301A>C (p.Ser1101Arg)
c.3400A>C (p.Ser1134Arg)
c.3376A>C (p.Ser1126Arg)
c.3211A>C (p.Ser1071Arg)
1g.16986178A>CCA338231562ATP13A2c.*43T>G (n.*43T>G)
c.3284T>G (p.Leu1095Arg)
n.1632T>G
c.1004T>G (p.Leu335Arg)
c.3416T>G (p.Leu1139Arg)
c.3413T>G (p.Leu1138Arg)
c.3401T>G (p.Leu1134Arg)
c.3389T>G (p.Leu1130Arg)
c.3356T>G (p.Leu1119Arg)
c.3299T>G (p.Leu1100Arg)
c.3398T>G (p.Leu1133Arg)
c.3374T>G (p.Leu1125Arg)
c.3209T>G (p.Leu1070Arg)
1g.16986178A>GCA338231565ATP13A2c.*43T>C (n.*43T>C)
c.3284T>C (p.Leu1095Pro)
n.1632T>C
c.1004T>C (p.Leu335Pro)
c.3416T>C (p.Leu1139Pro)
c.3413T>C (p.Leu1138Pro)
c.3401T>C (p.Leu1134Pro)
c.3389T>C (p.Leu1130Pro)
c.3356T>C (p.Leu1119Pro)
c.3299T>C (p.Leu1100Pro)
c.3398T>C (p.Leu1133Pro)
c.3374T>C (p.Leu1125Pro)
c.3209T>C (p.Leu1070Pro)
 gnomAD v4
1g.16986178A>TCA338231558ATP13A2c.*43T>A (n.*43T>A)
c.3284T>A (p.Leu1095Gln)
n.1632T>A
c.1004T>A (p.Leu335Gln)
c.3416T>A (p.Leu1139Gln)
c.3413T>A (p.Leu1138Gln)
c.3401T>A (p.Leu1134Gln)
c.3389T>A (p.Leu1130Gln)
c.3356T>A (p.Leu1119Gln)
c.3299T>A (p.Leu1100Gln)
c.3398T>A (p.Leu1133Gln)
c.3374T>A (p.Leu1125Gln)
c.3209T>A (p.Leu1070Gln)
1g.16986179G>ACA18624494ATP13A2c.*42C>T (n.*42C>T)
c.3283C>T (p.Leu1095=)
n.1631C>T
c.1003C>T (p.Leu335=)
c.3415C>T (p.Leu1139=)
c.3412C>T (p.Leu1138=)
c.3400C>T (p.Leu1134=)
c.3388C>T (p.Leu1130=)
c.3355C>T (p.Leu1119=)
c.3298C>T (p.Leu1100=)
c.3397C>T (p.Leu1133=)
c.3373C>T (p.Leu1125=)
c.3208C>T (p.Leu1070=)
 dbSNP gnomAD v3 gnomAD v4
1g.16986179G>CCA338231574ATP13A2c.*42C>G (n.*42C>G)
c.3283C>G (p.Leu1095Val)
n.1631C>G
c.1003C>G (p.Leu335Val)
c.3415C>G (p.Leu1139Val)
c.3412C>G (p.Leu1138Val)
c.3400C>G (p.Leu1134Val)
c.3388C>G (p.Leu1130Val)
c.3355C>G (p.Leu1119Val)
c.3298C>G (p.Leu1100Val)
c.3397C>G (p.Leu1133Val)
c.3373C>G (p.Leu1125Val)
c.3208C>G (p.Leu1070Val)
1g.16986179G=CA1139849804ATP13A2c.*42C= (n.*42C=)
c.3283C= (p.Leu1095=)
n.1631C=
c.1003C= (p.Leu335=)
c.3415C= (p.Leu1139=)
c.3412C= (p.Leu1138=)
c.3400C= (p.Leu1134=)
c.3388C= (p.Leu1130=)
c.3355C= (p.Leu1119=)
c.3298C= (p.Leu1100=)
c.3397C= (p.Leu1133=)
c.3373C= (p.Leu1125=)
c.3208C= (p.Leu1070=)
1g.16986179G>TCA338231572ATP13A2c.*42C>A (n.*42C>A)
c.3283C>A (p.Leu1095Met)
n.1631C>A
c.1003C>A (p.Leu335Met)
c.3415C>A (p.Leu1139Met)
c.3412C>A (p.Leu1138Met)
c.3400C>A (p.Leu1134Met)
c.3388C>A (p.Leu1130Met)
c.3355C>A (p.Leu1119Met)
c.3298C>A (p.Leu1100Met)
c.3397C>A (p.Leu1133Met)
c.3373C>A (p.Leu1125Met)
c.3208C>A (p.Leu1070Met)
1g.16986180A=CA1143843060ATP13A2c.*41T= (n.*41T=)
c.3282T= (p.Pro1094=)
n.1630T=
c.1002T= (p.Pro334=)
c.3414T= (p.Pro1138=)
c.3411T= (p.Pro1137=)
c.3399T= (p.Pro1133=)
c.3387T= (p.Pro1129=)
c.3354T= (p.Pro1118=)
c.3297T= (p.Pro1099=)
c.3396T= (p.Pro1132=)
c.3372T= (p.Pro1124=)
c.3207T= (p.Pro1069=)
1g.16986180A>GCA636442ATP13A2c.*41T>C (n.*41T>C)
c.3282T>C (p.Pro1094=)
n.1630T>C
c.1002T>C (p.Pro334=)
c.3414T>C (p.Pro1138=)
c.3411T>C (p.Pro1137=)
c.3399T>C (p.Pro1133=)
c.3387T>C (p.Pro1129=)
c.3354T>C (p.Pro1118=)
c.3297T>C (p.Pro1099=)
c.3396T>C (p.Pro1132=)
c.3372T>C (p.Pro1124=)
c.3207T>C (p.Pro1069=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986181G>ACA338231583ATP13A2c.*40C>T (n.*40C>T)
c.3281C>T (p.Pro1094Leu)
n.1629C>T
c.1001C>T (p.Pro334Leu)
c.3413C>T (p.Pro1138Leu)
c.3410C>T (p.Pro1137Leu)
c.3398C>T (p.Pro1133Leu)
c.3386C>T (p.Pro1129Leu)
c.3353C>T (p.Pro1118Leu)
c.3296C>T (p.Pro1099Leu)
c.3395C>T (p.Pro1132Leu)
c.3371C>T (p.Pro1124Leu)
c.3206C>T (p.Pro1069Leu)
 gnomAD v4
1g.16986181G>CCA338231586ATP13A2c.*40C>G (n.*40C>G)
c.3281C>G (p.Pro1094Arg)
n.1629C>G
c.1001C>G (p.Pro334Arg)
c.3413C>G (p.Pro1138Arg)
c.3410C>G (p.Pro1137Arg)
c.3398C>G (p.Pro1133Arg)
c.3386C>G (p.Pro1129Arg)
c.3353C>G (p.Pro1118Arg)
c.3296C>G (p.Pro1099Arg)
c.3395C>G (p.Pro1132Arg)
c.3371C>G (p.Pro1124Arg)
c.3206C>G (p.Pro1069Arg)
1g.16986181G>TCA338231589ATP13A2c.*40C>A (n.*40C>A)
c.3281C>A (p.Pro1094His)
n.1629C>A
c.1001C>A (p.Pro334His)
c.3413C>A (p.Pro1138His)
c.3410C>A (p.Pro1137His)
c.3398C>A (p.Pro1133His)
c.3386C>A (p.Pro1129His)
c.3353C>A (p.Pro1118His)
c.3296C>A (p.Pro1099His)
c.3395C>A (p.Pro1132His)
c.3371C>A (p.Pro1124His)
c.3206C>A (p.Pro1069His)
1g.16986182G>ACA18624501ATP13A2c.*39C>T (n.*39C>T)
c.3280C>T (p.Pro1094Ser)
n.1628C>T
c.1000C>T (p.Pro334Ser)
c.3412C>T (p.Pro1138Ser)
c.3409C>T (p.Pro1137Ser)
c.3397C>T (p.Pro1133Ser)
c.3385C>T (p.Pro1129Ser)
c.3352C>T (p.Pro1118Ser)
c.3295C>T (p.Pro1099Ser)
c.3394C>T (p.Pro1132Ser)
c.3370C>T (p.Pro1124Ser)
c.3205C>T (p.Pro1069Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986182G>CCA338231593ATP13A2c.*39C>G (n.*39C>G)
c.3280C>G (p.Pro1094Ala)
n.1628C>G
c.1000C>G (p.Pro334Ala)
c.3412C>G (p.Pro1138Ala)
c.3409C>G (p.Pro1137Ala)
c.3397C>G (p.Pro1133Ala)
c.3385C>G (p.Pro1129Ala)
c.3352C>G (p.Pro1118Ala)
c.3295C>G (p.Pro1099Ala)
c.3394C>G (p.Pro1132Ala)
c.3370C>G (p.Pro1124Ala)
c.3205C>G (p.Pro1069Ala)
1g.16986182G=CA1156049029ATP13A2c.*39C= (n.*39C=)
c.3280C= (p.Pro1094=)
n.1628C=
c.1000C= (p.Pro334=)
c.3412C= (p.Pro1138=)
c.3409C= (p.Pro1137=)
c.3397C= (p.Pro1133=)
c.3385C= (p.Pro1129=)
c.3352C= (p.Pro1118=)
c.3295C= (p.Pro1099=)
c.3394C= (p.Pro1132=)
c.3370C= (p.Pro1124=)
c.3205C= (p.Pro1069=)
1g.16986182G>TCA338231596ATP13A2c.*39C>A (n.*39C>A)
c.3280C>A (p.Pro1094Thr)
n.1628C>A
c.1000C>A (p.Pro334Thr)
c.3412C>A (p.Pro1138Thr)
c.3409C>A (p.Pro1137Thr)
c.3397C>A (p.Pro1133Thr)
c.3385C>A (p.Pro1129Thr)
c.3352C>A (p.Pro1118Thr)
c.3295C>A (p.Pro1099Thr)
c.3394C>A (p.Pro1132Thr)
c.3370C>A (p.Pro1124Thr)
c.3205C>A (p.Pro1069Thr)
1g.16986183C=CA1156049032ATP13A2c.*38G= (n.*38G=)
c.3279G= (p.Leu1093=)
n.1627G=
c.999G= (p.Leu333=)
c.3411G= (p.Leu1137=)
c.3408G= (p.Leu1136=)
c.3396G= (p.Leu1132=)
c.3384G= (p.Leu1128=)
c.3351G= (p.Leu1117=)
c.3294G= (p.Leu1098=)
c.3393G= (p.Leu1131=)
c.3369G= (p.Leu1123=)
c.3204G= (p.Leu1068=)
1g.16986183C>TCA636443ATP13A2c.*38G>A (n.*38G>A)
c.3279G>A (p.Leu1093=)
n.1627G>A
c.999G>A (p.Leu333=)
c.3411G>A (p.Leu1137=)
c.3408G>A (p.Leu1136=)
c.3396G>A (p.Leu1132=)
c.3384G>A (p.Leu1128=)
c.3351G>A (p.Leu1117=)
c.3294G>A (p.Leu1098=)
c.3393G>A (p.Leu1131=)
c.3369G>A (p.Leu1123=)
c.3204G>A (p.Leu1068=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986184A>CCA338231602ATP13A2c.*37T>G (n.*37T>G)
c.3278T>G (p.Leu1093Arg)
n.1626T>G
c.998T>G (p.Leu333Arg)
c.3410T>G (p.Leu1137Arg)
c.3407T>G (p.Leu1136Arg)
c.3395T>G (p.Leu1132Arg)
c.3383T>G (p.Leu1128Arg)
c.3350T>G (p.Leu1117Arg)
c.3293T>G (p.Leu1098Arg)
c.3392T>G (p.Leu1131Arg)
c.3368T>G (p.Leu1123Arg)
c.3203T>G (p.Leu1068Arg)
1g.16986184A>GCA338231604ATP13A2c.*37T>C (n.*37T>C)
c.3278T>C (p.Leu1093Pro)
n.1626T>C
c.998T>C (p.Leu333Pro)
c.3410T>C (p.Leu1137Pro)
c.3407T>C (p.Leu1136Pro)
c.3395T>C (p.Leu1132Pro)
c.3383T>C (p.Leu1128Pro)
c.3350T>C (p.Leu1117Pro)
c.3293T>C (p.Leu1098Pro)
c.3392T>C (p.Leu1131Pro)
c.3368T>C (p.Leu1123Pro)
c.3203T>C (p.Leu1068Pro)
 gnomAD v4
1g.16986184A>TCA338231605ATP13A2c.*37T>A (n.*37T>A)
c.3278T>A (p.Leu1093Gln)
n.1626T>A
c.998T>A (p.Leu333Gln)
c.3410T>A (p.Leu1137Gln)
c.3407T>A (p.Leu1136Gln)
c.3395T>A (p.Leu1132Gln)
c.3383T>A (p.Leu1128Gln)
c.3350T>A (p.Leu1117Gln)
c.3293T>A (p.Leu1098Gln)
c.3392T>A (p.Leu1131Gln)
c.3368T>A (p.Leu1123Gln)
c.3203T>A (p.Leu1068Gln)
1g.16986185G>ACA636444ATP13A2c.*36C>T (n.*36C>T)
c.3277C>T (p.Leu1093=)
n.1625C>T
c.997C>T (p.Leu333=)
c.3409C>T (p.Leu1137=)
c.3406C>T (p.Leu1136=)
c.3394C>T (p.Leu1132=)
c.3382C>T (p.Leu1128=)
c.3349C>T (p.Leu1117=)
c.3292C>T (p.Leu1098=)
c.3391C>T (p.Leu1131=)
c.3367C>T (p.Leu1123=)
c.3202C>T (p.Leu1068=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986185G>CCA338231616ATP13A2c.*36C>G (n.*36C>G)
c.3277C>G (p.Leu1093Val)
n.1625C>G
c.997C>G (p.Leu333Val)
c.3409C>G (p.Leu1137Val)
c.3406C>G (p.Leu1136Val)
c.3394C>G (p.Leu1132Val)
c.3382C>G (p.Leu1128Val)
c.3349C>G (p.Leu1117Val)
c.3292C>G (p.Leu1098Val)
c.3391C>G (p.Leu1131Val)
c.3367C>G (p.Leu1123Val)
c.3202C>G (p.Leu1068Val)
1g.16986185G=CA1156049079ATP13A2c.*36C= (n.*36C=)
c.3277C= (p.Leu1093=)
n.1625C=
c.997C= (p.Leu333=)
c.3409C= (p.Leu1137=)
c.3406C= (p.Leu1136=)
c.3394C= (p.Leu1132=)
c.3382C= (p.Leu1128=)
c.3349C= (p.Leu1117=)
c.3292C= (p.Leu1098=)
c.3391C= (p.Leu1131=)
c.3367C= (p.Leu1123=)
c.3202C= (p.Leu1068=)
1g.16986185G>TCA338231608ATP13A2c.*36C>A (n.*36C>A)
c.3277C>A (p.Leu1093Met)
n.1625C>A
c.997C>A (p.Leu333Met)
c.3409C>A (p.Leu1137Met)
c.3406C>A (p.Leu1136Met)
c.3394C>A (p.Leu1132Met)
c.3382C>A (p.Leu1128Met)
c.3349C>A (p.Leu1117Met)
c.3292C>A (p.Leu1098Met)
c.3391C>A (p.Leu1131Met)
c.3367C>A (p.Leu1123Met)
c.3202C>A (p.Leu1068Met)
1g.16986187G>ACA338231627ATP13A2c.*34C>T (n.*34C>T)
c.3275C>T (p.Ser1092Phe)
n.1623C>T
c.995C>T (p.Ser332Phe)
c.3407C>T (p.Ser1136Phe)
c.3404C>T (p.Ser1135Phe)
c.3392C>T (p.Ser1131Phe)
c.3380C>T (p.Ser1127Phe)
c.3347C>T (p.Ser1116Phe)
c.3290C>T (p.Ser1097Phe)
c.3389C>T (p.Ser1130Phe)
c.3365C>T (p.Ser1122Phe)
c.3200C>T (p.Ser1067Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.16986187G>CCA338231629ATP13A2c.*34C>G (n.*34C>G)
c.3275C>G (p.Ser1092Cys)
n.1623C>G
c.995C>G (p.Ser332Cys)
c.3407C>G (p.Ser1136Cys)
c.3404C>G (p.Ser1135Cys)
c.3392C>G (p.Ser1131Cys)
c.3380C>G (p.Ser1127Cys)
c.3347C>G (p.Ser1116Cys)
c.3290C>G (p.Ser1097Cys)
c.3389C>G (p.Ser1130Cys)
c.3365C>G (p.Ser1122Cys)
c.3200C>G (p.Ser1067Cys)
 gnomAD v4
1g.16986187G=CA1156049095ATP13A2c.*34C= (n.*34C=)
c.3275C= (p.Ser1092=)
n.1623C=
c.995C= (p.Ser332=)
c.3407C= (p.Ser1136=)
c.3404C= (p.Ser1135=)
c.3392C= (p.Ser1131=)
c.3380C= (p.Ser1127=)
c.3347C= (p.Ser1116=)
c.3290C= (p.Ser1097=)
c.3389C= (p.Ser1130=)
c.3365C= (p.Ser1122=)
c.3200C= (p.Ser1067=)
1g.16986187G>TCA338231632ATP13A2c.*34C>A (n.*34C>A)
c.3275C>A (p.Ser1092Tyr)
n.1623C>A
c.995C>A (p.Ser332Tyr)
c.3407C>A (p.Ser1136Tyr)
c.3404C>A (p.Ser1135Tyr)
c.3392C>A (p.Ser1131Tyr)
c.3380C>A (p.Ser1127Tyr)
c.3347C>A (p.Ser1116Tyr)
c.3290C>A (p.Ser1097Tyr)
c.3389C>A (p.Ser1130Tyr)
c.3365C>A (p.Ser1122Tyr)
c.3200C>A (p.Ser1067Tyr)
1g.16986188A=CA1156049099ATP13A2c.*33T= (n.*33T=)
c.3274T= (p.Ser1092=)
n.1622T=
c.994T= (p.Ser332=)
c.3406T= (p.Ser1136=)
c.3403T= (p.Ser1135=)
c.3391T= (p.Ser1131=)
c.3379T= (p.Ser1127=)
c.3346T= (p.Ser1116=)
c.3289T= (p.Ser1097=)
c.3388T= (p.Ser1130=)
c.3364T= (p.Ser1122=)
c.3199T= (p.Ser1067=)
1g.16986188A>CCA636445ATP13A2c.*33T>G (n.*33T>G)
c.3274T>G (p.Ser1092Ala)
n.1622T>G
c.994T>G (p.Ser332Ala)
c.3406T>G (p.Ser1136Ala)
c.3403T>G (p.Ser1135Ala)
c.3391T>G (p.Ser1131Ala)
c.3379T>G (p.Ser1127Ala)
c.3346T>G (p.Ser1116Ala)
c.3289T>G (p.Ser1097Ala)
c.3388T>G (p.Ser1130Ala)
c.3364T>G (p.Ser1122Ala)
c.3199T>G (p.Ser1067Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986188A>GCA338231647ATP13A2c.*33T>C (n.*33T>C)
c.3274T>C (p.Ser1092Pro)
n.1622T>C
c.994T>C (p.Ser332Pro)
c.3406T>C (p.Ser1136Pro)
c.3403T>C (p.Ser1135Pro)
c.3391T>C (p.Ser1131Pro)
c.3379T>C (p.Ser1127Pro)
c.3346T>C (p.Ser1116Pro)
c.3289T>C (p.Ser1097Pro)
c.3388T>C (p.Ser1130Pro)
c.3364T>C (p.Ser1122Pro)
c.3199T>C (p.Ser1067Pro)
 gnomAD v4
1g.16986188A>TCA338231650ATP13A2c.*33T>A (n.*33T>A)
c.3274T>A (p.Ser1092Thr)
n.1622T>A
c.994T>A (p.Ser332Thr)
c.3406T>A (p.Ser1136Thr)
c.3403T>A (p.Ser1135Thr)
c.3391T>A (p.Ser1131Thr)
c.3379T>A (p.Ser1127Thr)
c.3346T>A (p.Ser1116Thr)
c.3289T>A (p.Ser1097Thr)
c.3388T>A (p.Ser1130Thr)
c.3364T>A (p.Ser1122Thr)
c.3199T>A (p.Ser1067Thr)
1g.16986189G>ACA2643668060ATP13A2c.*32C>T (n.*32C>T)
c.3273C>T (p.Asn1091=)
n.1621C>T
c.993C>T (p.Asn331=)
c.3405C>T (p.Asn1135=)
c.3402C>T (p.Asn1134=)
c.3390C>T (p.Asn1130=)
c.3378C>T (p.Asn1126=)
c.3345C>T (p.Asn1115=)
c.3288C>T (p.Asn1096=)
c.3387C>T (p.Asn1129=)
c.3363C>T (p.Asn1121=)
c.3198C>T (p.Asn1066=)
 gnomAD v4
1g.16986189G>CCA338231653ATP13A2c.*32C>G (n.*32C>G)
c.3273C>G (p.Asn1091Lys)
n.1621C>G
c.993C>G (p.Asn331Lys)
c.3405C>G (p.Asn1135Lys)
c.3402C>G (p.Asn1134Lys)
c.3390C>G (p.Asn1130Lys)
c.3378C>G (p.Asn1126Lys)
c.3345C>G (p.Asn1115Lys)
c.3288C>G (p.Asn1096Lys)
c.3387C>G (p.Asn1129Lys)
c.3363C>G (p.Asn1121Lys)
c.3198C>G (p.Asn1066Lys)
1g.16986189G>TCA338231654ATP13A2c.*32C>A (n.*32C>A)
c.3273C>A (p.Asn1091Lys)
n.1621C>A
c.993C>A (p.Asn331Lys)
c.3405C>A (p.Asn1135Lys)
c.3402C>A (p.Asn1134Lys)
c.3390C>A (p.Asn1130Lys)
c.3378C>A (p.Asn1126Lys)
c.3345C>A (p.Asn1115Lys)
c.3288C>A (p.Asn1096Lys)
c.3387C>A (p.Asn1129Lys)
c.3363C>A (p.Asn1121Lys)
c.3198C>A (p.Asn1066Lys)
1g.16986190T>ACA338231655ATP13A2c.*31A>T (n.*31A>T)
c.3272A>T (p.Asn1091Ile)
n.1620A>T
c.992A>T (p.Asn331Ile)
c.3404A>T (p.Asn1135Ile)
c.3401A>T (p.Asn1134Ile)
c.3389A>T (p.Asn1130Ile)
c.3377A>T (p.Asn1126Ile)
c.3344A>T (p.Asn1115Ile)
c.3287A>T (p.Asn1096Ile)
c.3386A>T (p.Asn1129Ile)
c.3362A>T (p.Asn1121Ile)
c.3197A>T (p.Asn1066Ile)
1g.16986190T>CCA636446ATP13A2c.*31A>G (n.*31A>G)
c.3272A>G (p.Asn1091Ser)
n.1620A>G
c.992A>G (p.Asn331Ser)
c.3404A>G (p.Asn1135Ser)
c.3401A>G (p.Asn1134Ser)
c.3389A>G (p.Asn1130Ser)
c.3377A>G (p.Asn1126Ser)
c.3344A>G (p.Asn1115Ser)
c.3287A>G (p.Asn1096Ser)
c.3386A>G (p.Asn1129Ser)
c.3362A>G (p.Asn1121Ser)
c.3197A>G (p.Asn1066Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986190T>GCA338231656ATP13A2c.*31A>C (n.*31A>C)
c.3272A>C (p.Asn1091Thr)
n.1620A>C
c.992A>C (p.Asn331Thr)
c.3404A>C (p.Asn1135Thr)
c.3401A>C (p.Asn1134Thr)
c.3389A>C (p.Asn1130Thr)
c.3377A>C (p.Asn1126Thr)
c.3344A>C (p.Asn1115Thr)
c.3287A>C (p.Asn1096Thr)
c.3386A>C (p.Asn1129Thr)
c.3362A>C (p.Asn1121Thr)
c.3197A>C (p.Asn1066Thr)
1g.16986190T=CA1156049109ATP13A2c.*31A= (n.*31A=)
c.3272A= (p.Asn1091=)
n.1620A=
c.992A= (p.Asn331=)
c.3404A= (p.Asn1135=)
c.3401A= (p.Asn1134=)
c.3389A= (p.Asn1130=)
c.3377A= (p.Asn1126=)
c.3344A= (p.Asn1115=)
c.3287A= (p.Asn1096=)
c.3386A= (p.Asn1129=)
c.3362A= (p.Asn1121=)
c.3197A= (p.Asn1066=)
1g.16986191T>ACA338231667ATP13A2c.*30A>T (n.*30A>T)
c.3271A>T (p.Asn1091Tyr)
n.1619A>T
c.991A>T (p.Asn331Tyr)
c.3403A>T (p.Asn1135Tyr)
c.3400A>T (p.Asn1134Tyr)
c.3388A>T (p.Asn1130Tyr)
c.3376A>T (p.Asn1126Tyr)
c.3343A>T (p.Asn1115Tyr)
c.3286A>T (p.Asn1096Tyr)
c.3385A>T (p.Asn1129Tyr)
c.3361A>T (p.Asn1121Tyr)
c.3196A>T (p.Asn1066Tyr)
1g.16986191T>CCA338231665ATP13A2c.*30A>G (n.*30A>G)
c.3271A>G (p.Asn1091Asp)
n.1619A>G
c.991A>G (p.Asn331Asp)
c.3403A>G (p.Asn1135Asp)
c.3400A>G (p.Asn1134Asp)
c.3388A>G (p.Asn1130Asp)
c.3376A>G (p.Asn1126Asp)
c.3343A>G (p.Asn1115Asp)
c.3286A>G (p.Asn1096Asp)
c.3385A>G (p.Asn1129Asp)
c.3361A>G (p.Asn1121Asp)
c.3196A>G (p.Asn1066Asp)
1g.16986191T>GCA338231659ATP13A2c.*30A>C (n.*30A>C)
c.3271A>C (p.Asn1091His)
n.1619A>C
c.991A>C (p.Asn331His)
c.3403A>C (p.Asn1135His)
c.3400A>C (p.Asn1134His)
c.3388A>C (p.Asn1130His)
c.3376A>C (p.Asn1126His)
c.3343A>C (p.Asn1115His)
c.3286A>C (p.Asn1096His)
c.3385A>C (p.Asn1129His)
c.3361A>C (p.Asn1121His)
c.3196A>C (p.Asn1066His)
1g.16986192C>ACA338231670ATP13A2c.*29G>T (n.*29G>T)
c.3270G>T (p.Trp1090Cys)
n.1618G>T
c.990G>T (p.Trp330Cys)
c.3402G>T (p.Trp1134Cys)
c.3399G>T (p.Trp1133Cys)
c.3387G>T (p.Trp1129Cys)
c.3375G>T (p.Trp1125Cys)
c.3342G>T (p.Trp1114Cys)
c.3285G>T (p.Trp1095Cys)
c.3384G>T (p.Trp1128Cys)
c.3360G>T (p.Trp1120Cys)
c.3195G>T (p.Trp1065Cys)
1g.16986192C>GCA338231671ATP13A2c.*29G>C (n.*29G>C)
c.3270G>C (p.Trp1090Cys)
n.1618G>C
c.990G>C (p.Trp330Cys)
c.3402G>C (p.Trp1134Cys)
c.3399G>C (p.Trp1133Cys)
c.3387G>C (p.Trp1129Cys)
c.3375G>C (p.Trp1125Cys)
c.3342G>C (p.Trp1114Cys)
c.3285G>C (p.Trp1095Cys)
c.3384G>C (p.Trp1128Cys)
c.3360G>C (p.Trp1120Cys)
c.3195G>C (p.Trp1065Cys)
1g.16986192C>TCA338231672ATP13A2c.*29G>A (n.*29G>A)
c.3270G>A (p.Trp1090Ter)
n.1618G>A
c.990G>A (p.Trp330Ter)
c.3402G>A (p.Trp1134Ter)
c.3399G>A (p.Trp1133Ter)
c.3387G>A (p.Trp1129Ter)
c.3375G>A (p.Trp1125Ter)
c.3342G>A (p.Trp1114Ter)
c.3285G>A (p.Trp1095Ter)
c.3384G>A (p.Trp1128Ter)
c.3360G>A (p.Trp1120Ter)
c.3195G>A (p.Trp1065Ter)
 gnomAD v4
1g.16986193C>ACA636447ATP13A2c.*28G>T (n.*28G>T)
c.3269G>T (p.Trp1090Leu)
n.1617G>T
c.989G>T (p.Trp330Leu)
c.3401G>T (p.Trp1134Leu)
c.3398G>T (p.Trp1133Leu)
c.3386G>T (p.Trp1129Leu)
c.3374G>T (p.Trp1125Leu)
c.3341G>T (p.Trp1114Leu)
c.3284G>T (p.Trp1095Leu)
c.3383G>T (p.Trp1128Leu)
c.3359G>T (p.Trp1120Leu)
c.3194G>T (p.Trp1065Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986193C=CA1148423821ATP13A2c.*28G= (n.*28G=)
c.3269G= (p.Trp1090=)
n.1617G=
c.989G= (p.Trp330=)
c.3401G= (p.Trp1134=)
c.3398G= (p.Trp1133=)
c.3386G= (p.Trp1129=)
c.3374G= (p.Trp1125=)
c.3341G= (p.Trp1114=)
c.3284G= (p.Trp1095=)
c.3383G= (p.Trp1128=)
c.3359G= (p.Trp1120=)
c.3194G= (p.Trp1065=)
1g.16986193C>GCA338231673ATP13A2c.*28G>C (n.*28G>C)
c.3269G>C (p.Trp1090Ser)
n.1617G>C
c.989G>C (p.Trp330Ser)
c.3401G>C (p.Trp1134Ser)
c.3398G>C (p.Trp1133Ser)
c.3386G>C (p.Trp1129Ser)
c.3374G>C (p.Trp1125Ser)
c.3341G>C (p.Trp1114Ser)
c.3284G>C (p.Trp1095Ser)
c.3383G>C (p.Trp1128Ser)
c.3359G>C (p.Trp1120Ser)
c.3194G>C (p.Trp1065Ser)
1g.16986193C>TCA338231674ATP13A2c.*28G>A (n.*28G>A)
c.3269G>A (p.Trp1090Ter)
n.1617G>A
c.989G>A (p.Trp330Ter)
c.3401G>A (p.Trp1134Ter)
c.3398G>A (p.Trp1133Ter)
c.3386G>A (p.Trp1129Ter)
c.3374G>A (p.Trp1125Ter)
c.3341G>A (p.Trp1114Ter)
c.3284G>A (p.Trp1095Ter)
c.3383G>A (p.Trp1128Ter)
c.3359G>A (p.Trp1120Ter)
c.3194G>A (p.Trp1065Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.16986194A>CCA338231681ATP13A2c.*27T>G (n.*27T>G)
c.3268T>G (p.Trp1090Gly)
n.1616T>G
c.988T>G (p.Trp330Gly)
c.3400T>G (p.Trp1134Gly)
c.3397T>G (p.Trp1133Gly)
c.3385T>G (p.Trp1129Gly)
c.3373T>G (p.Trp1125Gly)
c.3340T>G (p.Trp1114Gly)
c.3283T>G (p.Trp1095Gly)
c.3382T>G (p.Trp1128Gly)
c.3358T>G (p.Trp1120Gly)
c.3193T>G (p.Trp1065Gly)
1g.16986194A>GCA338231677ATP13A2c.*27T>C (n.*27T>C)
c.3268T>C (p.Trp1090Arg)
n.1616T>C
c.988T>C (p.Trp330Arg)
c.3400T>C (p.Trp1134Arg)
c.3397T>C (p.Trp1133Arg)
c.3385T>C (p.Trp1129Arg)
c.3373T>C (p.Trp1125Arg)
c.3340T>C (p.Trp1114Arg)
c.3283T>C (p.Trp1095Arg)
c.3382T>C (p.Trp1128Arg)
c.3358T>C (p.Trp1120Arg)
c.3193T>C (p.Trp1065Arg)
1g.16986194A>TCA338231679ATP13A2c.*27T>A (n.*27T>A)
c.3268T>A (p.Trp1090Arg)
n.1616T>A
c.988T>A (p.Trp330Arg)
c.3400T>A (p.Trp1134Arg)
c.3397T>A (p.Trp1133Arg)
c.3385T>A (p.Trp1129Arg)
c.3373T>A (p.Trp1125Arg)
c.3340T>A (p.Trp1114Arg)
c.3283T>A (p.Trp1095Arg)
c.3382T>A (p.Trp1128Arg)
c.3358T>A (p.Trp1120Arg)
c.3193T>A (p.Trp1065Arg)
1g.16986195G>CCA338231685ATP13A2c.*26C>G (n.*26C>G)
c.3267C>G (p.His1089Gln)
n.1615C>G
c.987C>G (p.His329Gln)
c.3399C>G (p.His1133Gln)
c.3396C>G (p.His1132Gln)
c.3384C>G (p.His1128Gln)
c.3372C>G (p.His1124Gln)
c.3339C>G (p.His1113Gln)
c.3282C>G (p.His1094Gln)
c.3381C>G (p.His1127Gln)
c.3357C>G (p.His1119Gln)
c.3192C>G (p.His1064Gln)
 dbSNP gnomAD v2 gnomAD v4
1g.16986195G=CA1156049120ATP13A2c.*26C= (n.*26C=)
c.3267C= (p.His1089=)
n.1615C=
c.987C= (p.His329=)
c.3399C= (p.His1133=)
c.3396C= (p.His1132=)
c.3384C= (p.His1128=)
c.3372C= (p.His1124=)
c.3339C= (p.His1113=)
c.3282C= (p.His1094=)
c.3381C= (p.His1127=)
c.3357C= (p.His1119=)
c.3192C= (p.His1064=)
1g.16986195G>TCA338231688ATP13A2c.*26C>A (n.*26C>A)
c.3267C>A (p.His1089Gln)
n.1615C>A
c.987C>A (p.His329Gln)
c.3399C>A (p.His1133Gln)
c.3396C>A (p.His1132Gln)
c.3384C>A (p.His1128Gln)
c.3372C>A (p.His1124Gln)
c.3339C>A (p.His1113Gln)
c.3282C>A (p.His1094Gln)
c.3381C>A (p.His1127Gln)
c.3357C>A (p.His1119Gln)
c.3192C>A (p.His1064Gln)
1g.16986196T>ACA338231694ATP13A2c.*25A>T (n.*25A>T)
c.3266A>T (p.His1089Leu)
n.1614A>T
c.986A>T (p.His329Leu)
c.3398A>T (p.His1133Leu)
c.3395A>T (p.His1132Leu)
c.3383A>T (p.His1128Leu)
c.3371A>T (p.His1124Leu)
c.3338A>T (p.His1113Leu)
c.3281A>T (p.His1094Leu)
c.3380A>T (p.His1127Leu)
c.3356A>T (p.His1119Leu)
c.3191A>T (p.His1064Leu)
1g.16986196T>CCA338231696ATP13A2c.*25A>G (n.*25A>G)
c.3266A>G (p.His1089Arg)
n.1614A>G
c.986A>G (p.His329Arg)
c.3398A>G (p.His1133Arg)
c.3395A>G (p.His1132Arg)
c.3383A>G (p.His1128Arg)
c.3371A>G (p.His1124Arg)
c.3338A>G (p.His1113Arg)
c.3281A>G (p.His1094Arg)
c.3380A>G (p.His1127Arg)
c.3356A>G (p.His1119Arg)
c.3191A>G (p.His1064Arg)
 gnomAD v4
1g.16986196T>GCA338231698ATP13A2c.*25A>C (n.*25A>C)
c.3266A>C (p.His1089Pro)
n.1614A>C
c.986A>C (p.His329Pro)
c.3398A>C (p.His1133Pro)
c.3395A>C (p.His1132Pro)
c.3383A>C (p.His1128Pro)
c.3371A>C (p.His1124Pro)
c.3338A>C (p.His1113Pro)
c.3281A>C (p.His1094Pro)
c.3380A>C (p.His1127Pro)
c.3356A>C (p.His1119Pro)
c.3191A>C (p.His1064Pro)
1g.16986197G>ACA636448ATP13A2c.*24C>T (n.*24C>T)
c.3265C>T (p.His1089Tyr)
n.1613C>T
c.985C>T (p.His329Tyr)
c.3397C>T (p.His1133Tyr)
c.3394C>T (p.His1132Tyr)
c.3382C>T (p.His1128Tyr)
c.3370C>T (p.His1124Tyr)
c.3337C>T (p.His1113Tyr)
c.3280C>T (p.His1094Tyr)
c.3379C>T (p.His1127Tyr)
c.3355C>T (p.His1119Tyr)
c.3190C>T (p.His1064Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986197G>CCA338231703ATP13A2c.*24C>G (n.*24C>G)
c.3265C>G (p.His1089Asp)
n.1613C>G
c.985C>G (p.His329Asp)
c.3397C>G (p.His1133Asp)
c.3394C>G (p.His1132Asp)
c.3382C>G (p.His1128Asp)
c.3370C>G (p.His1124Asp)
c.3337C>G (p.His1113Asp)
c.3280C>G (p.His1094Asp)
c.3379C>G (p.His1127Asp)
c.3355C>G (p.His1119Asp)
c.3190C>G (p.His1064Asp)
1g.16986197G=CA1144065394ATP13A2c.*24C= (n.*24C=)
c.3265C= (p.His1089=)
n.1613C=
c.985C= (p.His329=)
c.3397C= (p.His1133=)
c.3394C= (p.His1132=)
c.3382C= (p.His1128=)
c.3370C= (p.His1124=)
c.3337C= (p.His1113=)
c.3280C= (p.His1094=)
c.3379C= (p.His1127=)
c.3355C= (p.His1119=)
c.3190C= (p.His1064=)
1g.16986197G>TCA338231700ATP13A2c.*24C>A (n.*24C>A)
c.3265C>A (p.His1089Asn)
n.1613C>A
c.985C>A (p.His329Asn)
c.3397C>A (p.His1133Asn)
c.3394C>A (p.His1132Asn)
c.3382C>A (p.His1128Asn)
c.3370C>A (p.His1124Asn)
c.3337C>A (p.His1113Asn)
c.3280C>A (p.His1094Asn)
c.3379C>A (p.His1127Asn)
c.3355C>A (p.His1119Asn)
c.3190C>A (p.His1064Asn)
1g.16986198T>ACA338231716ATP13A2c.*23A>T (n.*23A>T)
c.3264A>T (p.Arg1088Ser)
n.1612A>T
c.984A>T (p.Arg328Ser)
c.3396A>T (p.Arg1132Ser)
c.3393A>T (p.Arg1131Ser)
c.3381A>T (p.Arg1127Ser)
c.3369A>T (p.Arg1123Ser)
c.3336A>T (p.Arg1112Ser)
c.3279A>T (p.Arg1093Ser)
c.3378A>T (p.Arg1126Ser)
c.3354A>T (p.Arg1118Ser)
c.3189A>T (p.Arg1063Ser)
1g.16986198T>GCA338231724ATP13A2c.*23A>C (n.*23A>C)
c.3264A>C (p.Arg1088Ser)
n.1612A>C
c.984A>C (p.Arg328Ser)
c.3396A>C (p.Arg1132Ser)
c.3393A>C (p.Arg1131Ser)
c.3381A>C (p.Arg1127Ser)
c.3369A>C (p.Arg1123Ser)
c.3336A>C (p.Arg1112Ser)
c.3279A>C (p.Arg1093Ser)
c.3378A>C (p.Arg1126Ser)
c.3354A>C (p.Arg1118Ser)
c.3189A>C (p.Arg1063Ser)
1g.16986199C>ACA338231728ATP13A2c.*22G>T (n.*22G>T)
c.3263G>T (p.Arg1088Ile)
n.1611G>T
c.983G>T (p.Arg328Ile)
c.3395G>T (p.Arg1132Ile)
c.3392G>T (p.Arg1131Ile)
c.3380G>T (p.Arg1127Ile)
c.3368G>T (p.Arg1123Ile)
c.3335G>T (p.Arg1112Ile)
c.3278G>T (p.Arg1093Ile)
c.3377G>T (p.Arg1126Ile)
c.3353G>T (p.Arg1118Ile)
c.3188G>T (p.Arg1063Ile)
 dbSNP gnomAD v2
1g.16986199C=CA1156049127ATP13A2c.*22G= (n.*22G=)
c.3263G= (p.Arg1088=)
n.1611G=
c.983G= (p.Arg328=)
c.3395G= (p.Arg1132=)
c.3392G= (p.Arg1131=)
c.3380G= (p.Arg1127=)
c.3368G= (p.Arg1123=)
c.3335G= (p.Arg1112=)
c.3278G= (p.Arg1093=)
c.3377G= (p.Arg1126=)
c.3353G= (p.Arg1118=)
c.3188G= (p.Arg1063=)
1g.16986199C>GCA338231730ATP13A2c.*22G>C (n.*22G>C)
c.3263G>C (p.Arg1088Thr)
n.1611G>C
c.983G>C (p.Arg328Thr)
c.3395G>C (p.Arg1132Thr)
c.3392G>C (p.Arg1131Thr)
c.3380G>C (p.Arg1127Thr)
c.3368G>C (p.Arg1123Thr)
c.3335G>C (p.Arg1112Thr)
c.3278G>C (p.Arg1093Thr)
c.3377G>C (p.Arg1126Thr)
c.3353G>C (p.Arg1118Thr)
c.3188G>C (p.Arg1063Thr)
1g.16986199C>TCA338231733ATP13A2c.*22G>A (n.*22G>A)
c.3263G>A (p.Arg1088Lys)
n.1611G>A
c.983G>A (p.Arg328Lys)
c.3395G>A (p.Arg1132Lys)
c.3392G>A (p.Arg1131Lys)
c.3380G>A (p.Arg1127Lys)
c.3368G>A (p.Arg1123Lys)
c.3335G>A (p.Arg1112Lys)
c.3278G>A (p.Arg1093Lys)
c.3377G>A (p.Arg1126Lys)
c.3353G>A (p.Arg1118Lys)
c.3188G>A (p.Arg1063Lys)
1g.16986200T>ACA338231749ATP13A2c.*21A>T (n.*21A>T)
c.3262A>T (p.Arg1088Ter)
n.1610A>T
c.982A>T (p.Arg328Ter)
c.3394A>T (p.Arg1132Ter)
c.3391A>T (p.Arg1131Ter)
c.3379A>T (p.Arg1127Ter)
c.3367A>T (p.Arg1123Ter)
c.3334A>T (p.Arg1112Ter)
c.3277A>T (p.Arg1093Ter)
c.3376A>T (p.Arg1126Ter)
c.3352A>T (p.Arg1118Ter)
c.3187A>T (p.Arg1063Ter)
1g.16986200T>CCA338231751ATP13A2c.*21A>G (n.*21A>G)
c.3262A>G (p.Arg1088Gly)
n.1610A>G
c.982A>G (p.Arg328Gly)
c.3394A>G (p.Arg1132Gly)
c.3391A>G (p.Arg1131Gly)
c.3379A>G (p.Arg1127Gly)
c.3367A>G (p.Arg1123Gly)
c.3334A>G (p.Arg1112Gly)
c.3277A>G (p.Arg1093Gly)
c.3376A>G (p.Arg1126Gly)
c.3352A>G (p.Arg1118Gly)
c.3187A>G (p.Arg1063Gly)
 gnomAD v4
1g.16986201G>ACA2643668095ATP13A2c.*20C>T (n.*20C>T)
c.3261C>T (p.Pro1087=)
n.1609C>T
c.981C>T (p.Pro327=)
c.3393C>T (p.Pro1131=)
c.3390C>T (p.Pro1130=)
c.3378C>T (p.Pro1126=)
c.3366C>T (p.Pro1122=)
c.3333C>T (p.Pro1111=)
c.3276C>T (p.Pro1092=)
c.3375C>T (p.Pro1125=)
c.3351C>T (p.Pro1117=)
c.3186C>T (p.Pro1062=)
 gnomAD v4
1g.16986201G=CA1156049129ATP13A2c.*20C= (n.*20C=)
c.3261C= (p.Pro1087=)
n.1609C=
c.981C= (p.Pro327=)
c.3393C= (p.Pro1131=)
c.3390C= (p.Pro1130=)
c.3378C= (p.Pro1126=)
c.3366C= (p.Pro1122=)
c.3333C= (p.Pro1111=)
c.3276C= (p.Pro1092=)
c.3375C= (p.Pro1125=)
c.3351C= (p.Pro1117=)
c.3186C= (p.Pro1062=)
1g.16986201G>TCA1156049130ATP13A2c.*20C>A (n.*20C>A)
c.3261C>A (p.Pro1087=)
n.1609C>A
c.981C>A (p.Pro327=)
c.3393C>A (p.Pro1131=)
c.3390C>A (p.Pro1130=)
c.3378C>A (p.Pro1126=)
c.3366C>A (p.Pro1122=)
c.3333C>A (p.Pro1111=)
c.3276C>A (p.Pro1092=)
c.3375C>A (p.Pro1125=)
c.3351C>A (p.Pro1117=)
c.3186C>A (p.Pro1062=)
 dbSNP
1g.16986202G>ACA338231753ATP13A2c.*19C>T (n.*19C>T)
c.3260C>T (p.Pro1087Leu)
n.1608C>T
c.980C>T (p.Pro327Leu)
c.3392C>T (p.Pro1131Leu)
c.3389C>T (p.Pro1130Leu)
c.3377C>T (p.Pro1126Leu)
c.3365C>T (p.Pro1122Leu)
c.3332C>T (p.Pro1111Leu)
c.3275C>T (p.Pro1092Leu)
c.3374C>T (p.Pro1125Leu)
c.3350C>T (p.Pro1117Leu)
c.3185C>T (p.Pro1062Leu)
1g.16986202G>CCA338231755ATP13A2c.*19C>G (n.*19C>G)
c.3260C>G (p.Pro1087Arg)
n.1608C>G
c.980C>G (p.Pro327Arg)
c.3392C>G (p.Pro1131Arg)
c.3389C>G (p.Pro1130Arg)
c.3377C>G (p.Pro1126Arg)
c.3365C>G (p.Pro1122Arg)
c.3332C>G (p.Pro1111Arg)
c.3275C>G (p.Pro1092Arg)
c.3374C>G (p.Pro1125Arg)
c.3350C>G (p.Pro1117Arg)
c.3185C>G (p.Pro1062Arg)
 gnomAD v4
1g.16986202G>TCA338231756ATP13A2c.*19C>A (n.*19C>A)
c.3260C>A (p.Pro1087His)
n.1608C>A
c.980C>A (p.Pro327His)
c.3392C>A (p.Pro1131His)
c.3389C>A (p.Pro1130His)
c.3377C>A (p.Pro1126His)
c.3365C>A (p.Pro1122His)
c.3332C>A (p.Pro1111His)
c.3275C>A (p.Pro1092His)
c.3374C>A (p.Pro1125His)
c.3350C>A (p.Pro1117His)
c.3185C>A (p.Pro1062His)
 COSMIC
1g.16986203G>ACA338231759ATP13A2c.*18C>T (n.*18C>T)
c.3259C>T (p.Pro1087Ser)
n.1607C>T
c.979C>T (p.Pro327Ser)
c.3391C>T (p.Pro1131Ser)
c.3388C>T (p.Pro1130Ser)
c.3376C>T (p.Pro1126Ser)
c.3364C>T (p.Pro1122Ser)
c.3331C>T (p.Pro1111Ser)
c.3274C>T (p.Pro1092Ser)
c.3373C>T (p.Pro1125Ser)
c.3349C>T (p.Pro1117Ser)
c.3184C>T (p.Pro1062Ser)
 dbSNP gnomAD v2
1g.16986203G>CCA338231758ATP13A2c.*18C>G (n.*18C>G)
c.3259C>G (p.Pro1087Ala)
n.1607C>G
c.979C>G (p.Pro327Ala)
c.3391C>G (p.Pro1131Ala)
c.3388C>G (p.Pro1130Ala)
c.3376C>G (p.Pro1126Ala)
c.3364C>G (p.Pro1122Ala)
c.3331C>G (p.Pro1111Ala)
c.3274C>G (p.Pro1092Ala)
c.3373C>G (p.Pro1125Ala)
c.3349C>G (p.Pro1117Ala)
c.3184C>G (p.Pro1062Ala)
1g.16986203G=CA1156049135ATP13A2c.*18C= (n.*18C=)
c.3259C= (p.Pro1087=)
n.1607C=
c.979C= (p.Pro327=)
c.3391C= (p.Pro1131=)
c.3388C= (p.Pro1130=)
c.3376C= (p.Pro1126=)
c.3364C= (p.Pro1122=)
c.3331C= (p.Pro1111=)
c.3274C= (p.Pro1092=)
c.3373C= (p.Pro1125=)
c.3349C= (p.Pro1117=)
c.3184C= (p.Pro1062=)
1g.16986203G>TCA338231757ATP13A2c.*18C>A (n.*18C>A)
c.3259C>A (p.Pro1087Thr)
n.1607C>A
c.979C>A (p.Pro327Thr)
c.3391C>A (p.Pro1131Thr)
c.3388C>A (p.Pro1130Thr)
c.3376C>A (p.Pro1126Thr)
c.3364C>A (p.Pro1122Thr)
c.3331C>A (p.Pro1111Thr)
c.3274C>A (p.Pro1092Thr)
c.3373C>A (p.Pro1125Thr)
c.3349C>A (p.Pro1117Thr)
c.3184C>A (p.Pro1062Thr)
1g.16986204G>ACA890928552ATP13A2c.*17C>T (n.*17C>T)
c.3258C>T (p.His1086=)
n.1606C>T
c.978C>T (p.His326=)
c.3390C>T (p.His1130=)
c.3387C>T (p.His1129=)
c.3375C>T (p.His1125=)
c.3363C>T (p.His1121=)
c.3330C>T (p.His1110=)
c.3273C>T (p.His1091=)
c.3372C>T (p.His1124=)
c.3348C>T (p.His1116=)
c.3183C>T (p.His1061=)
 ClinVar dbSNP gnomAD v4
1g.16986204G>CCA338231760ATP13A2c.*17C>G (n.*17C>G)
c.3258C>G (p.His1086Gln)
n.1606C>G
c.978C>G (p.His326Gln)
c.3390C>G (p.His1130Gln)
c.3387C>G (p.His1129Gln)
c.3375C>G (p.His1125Gln)
c.3363C>G (p.His1121Gln)
c.3330C>G (p.His1110Gln)
c.3273C>G (p.His1091Gln)
c.3372C>G (p.His1124Gln)
c.3348C>G (p.His1116Gln)
c.3183C>G (p.His1061Gln)
1g.16986204G=CA1156049144ATP13A2c.*17C= (n.*17C=)
c.3258C= (p.His1086=)
n.1606C=
c.978C= (p.His326=)
c.3390C= (p.His1130=)
c.3387C= (p.His1129=)
c.3375C= (p.His1125=)
c.3363C= (p.His1121=)
c.3330C= (p.His1110=)
c.3273C= (p.His1091=)
c.3372C= (p.His1124=)
c.3348C= (p.His1116=)
c.3183C= (p.His1061=)
1g.16986204G>TCA338231761ATP13A2c.*17C>A (n.*17C>A)
c.3258C>A (p.His1086Gln)
n.1606C>A
c.978C>A (p.His326Gln)
c.3390C>A (p.His1130Gln)
c.3387C>A (p.His1129Gln)
c.3375C>A (p.His1125Gln)
c.3363C>A (p.His1121Gln)
c.3330C>A (p.His1110Gln)
c.3273C>A (p.His1091Gln)
c.3372C>A (p.His1124Gln)
c.3348C>A (p.His1116Gln)
c.3183C>A (p.His1061Gln)
1g.16986205T>ACA338231764ATP13A2c.*16A>T (n.*16A>T)
c.3257A>T (p.His1086Leu)
n.1605A>T
c.977A>T (p.His326Leu)
c.3389A>T (p.His1130Leu)
c.3386A>T (p.His1129Leu)
c.3374A>T (p.His1125Leu)
c.3362A>T (p.His1121Leu)
c.3329A>T (p.His1110Leu)
c.3272A>T (p.His1091Leu)
c.3371A>T (p.His1124Leu)
c.3347A>T (p.His1116Leu)
c.3182A>T (p.His1061Leu)
1g.16986205T>CCA338231766ATP13A2c.*16A>G (n.*16A>G)
c.3257A>G (p.His1086Arg)
n.1605A>G
c.977A>G (p.His326Arg)
c.3389A>G (p.His1130Arg)
c.3386A>G (p.His1129Arg)
c.3374A>G (p.His1125Arg)
c.3362A>G (p.His1121Arg)
c.3329A>G (p.His1110Arg)
c.3272A>G (p.His1091Arg)
c.3371A>G (p.His1124Arg)
c.3347A>G (p.His1116Arg)
c.3182A>G (p.His1061Arg)
1g.16986205T>GCA338231769ATP13A2c.*16A>C (n.*16A>C)
c.3257A>C (p.His1086Pro)
n.1605A>C
c.977A>C (p.His326Pro)
c.3389A>C (p.His1130Pro)
c.3386A>C (p.His1129Pro)
c.3374A>C (p.His1125Pro)
c.3362A>C (p.His1121Pro)
c.3329A>C (p.His1110Pro)
c.3272A>C (p.His1091Pro)
c.3371A>C (p.His1124Pro)
c.3347A>C (p.His1116Pro)
c.3182A>C (p.His1061Pro)
 gnomAD v4
1g.16986206G>ACA338231772ATP13A2c.*15C>T (n.*15C>T)
c.3256C>T (p.His1086Tyr)
n.1604C>T
c.976C>T (p.His326Tyr)
c.3388C>T (p.His1130Tyr)
c.3385C>T (p.His1129Tyr)
c.3373C>T (p.His1125Tyr)
c.3361C>T (p.His1121Tyr)
c.3328C>T (p.His1110Tyr)
c.3271C>T (p.His1091Tyr)
c.3370C>T (p.His1124Tyr)
c.3346C>T (p.His1116Tyr)
c.3181C>T (p.His1061Tyr)
1g.16986206G>CCA338231777ATP13A2c.*15C>G (n.*15C>G)
c.3256C>G (p.His1086Asp)
n.1604C>G
c.976C>G (p.His326Asp)
c.3388C>G (p.His1130Asp)
c.3385C>G (p.His1129Asp)
c.3373C>G (p.His1125Asp)
c.3361C>G (p.His1121Asp)
c.3328C>G (p.His1110Asp)
c.3271C>G (p.His1091Asp)
c.3370C>G (p.His1124Asp)
c.3346C>G (p.His1116Asp)
c.3181C>G (p.His1061Asp)
1g.16986206G>TCA338231783ATP13A2c.*15C>A (n.*15C>A)
c.3256C>A (p.His1086Asn)
n.1604C>A
c.976C>A (p.His326Asn)
c.3388C>A (p.His1130Asn)
c.3385C>A (p.His1129Asn)
c.3373C>A (p.His1125Asn)
c.3361C>A (p.His1121Asn)
c.3328C>A (p.His1110Asn)
c.3271C>A (p.His1091Asn)
c.3370C>A (p.His1124Asn)
c.3346C>A (p.His1116Asn)
c.3181C>A (p.His1061Asn)
1g.16986207C=CA1156049148ATP13A2c.*14G= (n.*14G=)
c.3255G= (p.Gly1085=)
n.1603G=
c.975G= (p.Gly325=)
c.3387G= (p.Gly1129=)
c.3384G= (p.Gly1128=)
c.3372G= (p.Gly1124=)
c.3360G= (p.Gly1120=)
c.3327G= (p.Gly1109=)
c.3270G= (p.Gly1090=)
c.3369G= (p.Gly1123=)
c.3345G= (p.Gly1115=)
c.3180G= (p.Gly1060=)
1g.16986207C>GCA2643668115ATP13A2c.*14G>C (n.*14G>C)
c.3255G>C (p.Gly1085=)
n.1603G>C
c.975G>C (p.Gly325=)
c.3387G>C (p.Gly1129=)
c.3384G>C (p.Gly1128=)
c.3372G>C (p.Gly1124=)
c.3360G>C (p.Gly1120=)
c.3327G>C (p.Gly1109=)
c.3270G>C (p.Gly1090=)
c.3369G>C (p.Gly1123=)
c.3345G>C (p.Gly1115=)
c.3180G>C (p.Gly1060=)
 gnomAD v4
1g.16986207C>TCA521449616ATP13A2c.*14G>A (n.*14G>A)
c.3255G>A (p.Gly1085=)
n.1603G>A
c.975G>A (p.Gly325=)
c.3387G>A (p.Gly1129=)
c.3384G>A (p.Gly1128=)
c.3372G>A (p.Gly1124=)
c.3360G>A (p.Gly1120=)
c.3327G>A (p.Gly1109=)
c.3270G>A (p.Gly1090=)
c.3369G>A (p.Gly1123=)
c.3345G>A (p.Gly1115=)
c.3180G>A (p.Gly1060=)
 dbSNP gnomAD v2 gnomAD v4
1g.16986208C>ACA338231784ATP13A2c.*13G>T (n.*13G>T)
c.3254G>T (p.Gly1085Val)
n.1602G>T
c.974G>T (p.Gly325Val)
c.3386G>T (p.Gly1129Val)
c.3383G>T (p.Gly1128Val)
c.3371G>T (p.Gly1124Val)
c.3359G>T (p.Gly1120Val)
c.3326G>T (p.Gly1109Val)
c.3269G>T (p.Gly1090Val)
c.3368G>T (p.Gly1123Val)
c.3344G>T (p.Gly1115Val)
c.3179G>T (p.Gly1060Val)
1g.16986208C=CA1140628853ATP13A2c.*13G= (n.*13G=)
c.3254G= (p.Gly1085=)
n.1602G=
c.974G= (p.Gly325=)
c.3386G= (p.Gly1129=)
c.3383G= (p.Gly1128=)
c.3371G= (p.Gly1124=)
c.3359G= (p.Gly1120=)
c.3326G= (p.Gly1109=)
c.3269G= (p.Gly1090=)
c.3368G= (p.Gly1123=)
c.3344G= (p.Gly1115=)
c.3179G= (p.Gly1060=)
1g.16986208C>GCA338231787ATP13A2c.*13G>C (n.*13G>C)
c.3254G>C (p.Gly1085Ala)
n.1602G>C
c.974G>C (p.Gly325Ala)
c.3386G>C (p.Gly1129Ala)
c.3383G>C (p.Gly1128Ala)
c.3371G>C (p.Gly1124Ala)
c.3359G>C (p.Gly1120Ala)
c.3326G>C (p.Gly1109Ala)
c.3269G>C (p.Gly1090Ala)
c.3368G>C (p.Gly1123Ala)
c.3344G>C (p.Gly1115Ala)
c.3179G>C (p.Gly1060Ala)
1g.16986208C>TCA18624545ATP13A2c.*13G>A (n.*13G>A)
c.3254G>A (p.Gly1085Glu)
n.1602G>A
c.974G>A (p.Gly325Glu)
c.3386G>A (p.Gly1129Glu)
c.3383G>A (p.Gly1128Glu)
c.3371G>A (p.Gly1124Glu)
c.3359G>A (p.Gly1120Glu)
c.3326G>A (p.Gly1109Glu)
c.3269G>A (p.Gly1090Glu)
c.3368G>A (p.Gly1123Glu)
c.3344G>A (p.Gly1115Glu)
c.3179G>A (p.Gly1060Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986209C>ACA338231795ATP13A2c.*12G>T (n.*12G>T)
c.3253G>T (p.Gly1085Trp)
n.1601G>T
c.973G>T (p.Gly325Trp)
c.3385G>T (p.Gly1129Trp)
c.3382G>T (p.Gly1128Trp)
c.3370G>T (p.Gly1124Trp)
c.3358G>T (p.Gly1120Trp)
c.3325G>T (p.Gly1109Trp)
c.3268G>T (p.Gly1090Trp)
c.3367G>T (p.Gly1123Trp)
c.3343G>T (p.Gly1115Trp)
c.3178G>T (p.Gly1060Trp)
1g.16986209C=CA1156049154ATP13A2c.*12G= (n.*12G=)
c.3253G= (p.Gly1085=)
n.1601G=
c.973G= (p.Gly325=)
c.3385G= (p.Gly1129=)
c.3382G= (p.Gly1128=)
c.3370G= (p.Gly1124=)
c.3358G= (p.Gly1120=)
c.3325G= (p.Gly1109=)
c.3268G= (p.Gly1090=)
c.3367G= (p.Gly1123=)
c.3343G= (p.Gly1115=)
c.3178G= (p.Gly1060=)
1g.16986209C>GCA338231797ATP13A2c.*12G>C (n.*12G>C)
c.3253G>C (p.Gly1085Arg)
n.1601G>C
c.973G>C (p.Gly325Arg)
c.3385G>C (p.Gly1129Arg)
c.3382G>C (p.Gly1128Arg)
c.3370G>C (p.Gly1124Arg)
c.3358G>C (p.Gly1120Arg)
c.3325G>C (p.Gly1109Arg)
c.3268G>C (p.Gly1090Arg)
c.3367G>C (p.Gly1123Arg)
c.3343G>C (p.Gly1115Arg)
c.3178G>C (p.Gly1060Arg)
 gnomAD v4
1g.16986209C>TCA636449ATP13A2c.*12G>A (n.*12G>A)
c.3253G>A (p.Gly1085Arg)
n.1601G>A
c.973G>A (p.Gly325Arg)
c.3385G>A (p.Gly1129Arg)
c.3382G>A (p.Gly1128Arg)
c.3370G>A (p.Gly1124Arg)
c.3358G>A (p.Gly1120Arg)
c.3325G>A (p.Gly1109Arg)
c.3268G>A (p.Gly1090Arg)
c.3367G>A (p.Gly1123Arg)
c.3343G>A (p.Gly1115Arg)
c.3178G>A (p.Gly1060Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.16986210G>ACA636450ATP13A2c.*11C>T (n.*11C>T)
c.3252C>T (p.His1084=)
n.1600C>T
c.972C>T (p.His324=)
c.3384C>T (p.His1128=)
c.3381C>T (p.His1127=)
c.3369C>T (p.His1123=)
c.3357C>T (p.His1119=)
c.3324C>T (p.His1108=)
c.3267C>T (p.His1089=)
c.3366C>T (p.His1122=)
c.3342C>T (p.His1114=)
c.3177C>T (p.His1059=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.16986210G>CCA338231806ATP13A2c.*11C>G (n.*11C>G)
c.3252C>G (p.His1084Gln)
n.1600C>G
c.972C>G (p.His324Gln)
c.3384C>G (p.His1128Gln)
c.3381C>G (p.His1127Gln)
c.3369C>G (p.His1123Gln)
c.3357C>G (p.His1119Gln)
c.3324C>G (p.His1108Gln)
c.3267C>G (p.His1089Gln)
c.3366C>G (p.His1122Gln)
c.3342C>G (p.His1114Gln)
c.3177C>G (p.His1059Gln)
1g.16986210G=CA1143692840ATP13A2c.*11C= (n.*11C=)
c.3252C= (p.His1084=)
n.1600C=
c.972C= (p.His324=)
c.3384C= (p.His1128=)
c.3381C= (p.His1127=)
c.3369C= (p.His1123=)
c.3357C= (p.His1119=)
c.3324C= (p.His1108=)
c.3267C= (p.His1089=)
c.3366C= (p.His1122=)
c.3342C= (p.His1114=)
c.3177C= (p.His1059=)
1g.16986210G>TCA338231803ATP13A2c.*11C>A (n.*11C>A)
c.3252C>A (p.His1084Gln)
n.1600C>A
c.972C>A (p.His324Gln)
c.3384C>A (p.His1128Gln)
c.3381C>A (p.His1127Gln)
c.3369C>A (p.His1123Gln)
c.3357C>A (p.His1119Gln)
c.3324C>A (p.His1108Gln)
c.3267C>A (p.His1089Gln)
c.3366C>A (p.His1122Gln)
c.3342C>A (p.His1114Gln)
c.3177C>A (p.His1059Gln)
1g.16986211T>ACA338231807ATP13A2c.*10A>T (n.*10A>T)
c.3251A>T (p.His1084Leu)
n.1599A>T
c.971A>T (p.His324Leu)
c.3383A>T (p.His1128Leu)
c.3380A>T (p.His1127Leu)
c.3368A>T (p.His1123Leu)
c.3356A>T (p.His1119Leu)
c.3323A>T (p.His1108Leu)
c.3266A>T (p.His1089Leu)
c.3365A>T (p.His1122Leu)
c.3341A>T (p.His1114Leu)
c.3176A>T (p.His1059Leu)
1g.16986211T>CCA636451ATP13A2c.*10A>G (n.*10A>G)
c.3251A>G (p.His1084Arg)
n.1599A>G
c.971A>G (p.His324Arg)
c.3383A>G (p.His1128Arg)
c.3380A>G (p.His1127Arg)
c.3368A>G (p.His1123Arg)
c.3356A>G (p.His1119Arg)
c.3323A>G (p.His1108Arg)
c.3266A>G (p.His1089Arg)
c.3365A>G (p.His1122Arg)
c.3341A>G (p.His1114Arg)
c.3176A>G (p.His1059Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986211T>GCA338231808ATP13A2c.*10A>C (n.*10A>C)
c.3251A>C (p.His1084Pro)
n.1599A>C
c.971A>C (p.His324Pro)
c.3383A>C (p.His1128Pro)
c.3380A>C (p.His1127Pro)
c.3368A>C (p.His1123Pro)
c.3356A>C (p.His1119Pro)
c.3323A>C (p.His1108Pro)
c.3266A>C (p.His1089Pro)
c.3365A>C (p.His1122Pro)
c.3341A>C (p.His1114Pro)
c.3176A>C (p.His1059Pro)
1g.16986211T=CA1156049161ATP13A2c.*10A= (n.*10A=)
c.3251A= (p.His1084=)
n.1599A=
c.971A= (p.His324=)
c.3383A= (p.His1128=)
c.3380A= (p.His1127=)
c.3368A= (p.His1123=)
c.3356A= (p.His1119=)
c.3323A= (p.His1108=)
c.3266A= (p.His1089=)
c.3365A= (p.His1122=)
c.3341A= (p.His1114=)
c.3176A= (p.His1059=)
1g.16986212G>ACA338231810ATP13A2c.*9C>T (n.*9C>T)
c.3250C>T (p.His1084Tyr)
n.1598C>T
c.970C>T (p.His324Tyr)
c.3382C>T (p.His1128Tyr)
c.3379C>T (p.His1127Tyr)
c.3367C>T (p.His1123Tyr)
c.3355C>T (p.His1119Tyr)
c.3322C>T (p.His1108Tyr)
c.3265C>T (p.His1089Tyr)
c.3364C>T (p.His1122Tyr)
c.3340C>T (p.His1114Tyr)
c.3175C>T (p.His1059Tyr)
1g.16986212G>CCA338231812ATP13A2c.*9C>G (n.*9C>G)
c.3250C>G (p.His1084Asp)
n.1598C>G
c.970C>G (p.His324Asp)
c.3382C>G (p.His1128Asp)
c.3379C>G (p.His1127Asp)
c.3367C>G (p.His1123Asp)
c.3355C>G (p.His1119Asp)
c.3322C>G (p.His1108Asp)
c.3265C>G (p.His1089Asp)
c.3364C>G (p.His1122Asp)
c.3340C>G (p.His1114Asp)
c.3175C>G (p.His1059Asp)
 gnomAD v4
1g.16986212G=CA1156049168ATP13A2c.*9C= (n.*9C=)
c.3250C= (p.His1084=)
n.1598C=
c.970C= (p.His324=)
c.3382C= (p.His1128=)
c.3379C= (p.His1127=)
c.3367C= (p.His1123=)
c.3355C= (p.His1119=)
c.3322C= (p.His1108=)
c.3265C= (p.His1089=)
c.3364C= (p.His1122=)
c.3340C= (p.His1114=)
c.3175C= (p.His1059=)
1g.16986212G>TCA636452ATP13A2c.*9C>A (n.*9C>A)
c.3250C>A (p.His1084Asn)
n.1598C>A
c.970C>A (p.His324Asn)
c.3382C>A (p.His1128Asn)
c.3379C>A (p.His1127Asn)
c.3367C>A (p.His1123Asn)
c.3355C>A (p.His1119Asn)
c.3322C>A (p.His1108Asn)
c.3265C>A (p.His1089Asn)
c.3364C>A (p.His1122Asn)
c.3340C>A (p.His1114Asn)
c.3175C>A (p.His1059Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986213G>ACA521449621ATP13A2c.*8C>T (n.*8C>T)
c.3249C>T (p.Ala1083=)
n.1597C>T
c.969C>T (p.Ala323=)
c.3381C>T (p.Ala1127=)
c.3378C>T (p.Ala1126=)
c.3366C>T (p.Ala1122=)
c.3354C>T (p.Ala1118=)
c.3321C>T (p.Ala1107=)
c.3264C>T (p.Ala1088=)
c.3363C>T (p.Ala1121=)
c.3339C>T (p.Ala1113=)
c.3174C>T (p.Ala1058=)
 dbSNP gnomAD v2 gnomAD v4
1g.16986213G=CA1156049176ATP13A2c.*8C= (n.*8C=)
c.3249C= (p.Ala1083=)
n.1597C=
c.969C= (p.Ala323=)
c.3381C= (p.Ala1127=)
c.3378C= (p.Ala1126=)
c.3366C= (p.Ala1122=)
c.3354C= (p.Ala1118=)
c.3321C= (p.Ala1107=)
c.3264C= (p.Ala1088=)
c.3363C= (p.Ala1121=)
c.3339C= (p.Ala1113=)
c.3174C= (p.Ala1058=)
1g.16986214G>ACA338231813ATP13A2c.*7C>T (n.*7C>T)
c.3248C>T (p.Ala1083Val)
n.1596C>T
c.968C>T (p.Ala323Val)
c.3380C>T (p.Ala1127Val)
c.3377C>T (p.Ala1126Val)
c.3365C>T (p.Ala1122Val)
c.3353C>T (p.Ala1118Val)
c.3320C>T (p.Ala1107Val)
c.3263C>T (p.Ala1088Val)
c.3362C>T (p.Ala1121Val)
c.3338C>T (p.Ala1113Val)
c.3173C>T (p.Ala1058Val)
1g.16986214G>CCA338231814ATP13A2c.*7C>G (n.*7C>G)
c.3248C>G (p.Ala1083Gly)
n.1596C>G
c.968C>G (p.Ala323Gly)
c.3380C>G (p.Ala1127Gly)
c.3377C>G (p.Ala1126Gly)
c.3365C>G (p.Ala1122Gly)
c.3353C>G (p.Ala1118Gly)
c.3320C>G (p.Ala1107Gly)
c.3263C>G (p.Ala1088Gly)
c.3362C>G (p.Ala1121Gly)
c.3338C>G (p.Ala1113Gly)
c.3173C>G (p.Ala1058Gly)
1g.16986214G>TCA338231816ATP13A2c.*7C>A (n.*7C>A)
c.3248C>A (p.Ala1083Asp)
n.1596C>A
c.968C>A (p.Ala323Asp)
c.3380C>A (p.Ala1127Asp)
c.3377C>A (p.Ala1126Asp)
c.3365C>A (p.Ala1122Asp)
c.3353C>A (p.Ala1118Asp)
c.3320C>A (p.Ala1107Asp)
c.3263C>A (p.Ala1088Asp)
c.3362C>A (p.Ala1121Asp)
c.3338C>A (p.Ala1113Asp)
c.3173C>A (p.Ala1058Asp)
1g.16986215C>ACA338231818ATP13A2c.*6G>T (n.*6G>T)
c.3247G>T (p.Ala1083Ser)
n.1595G>T
c.967G>T (p.Ala323Ser)
c.3379G>T (p.Ala1127Ser)
c.3376G>T (p.Ala1126Ser)
c.3364G>T (p.Ala1122Ser)
c.3352G>T (p.Ala1118Ser)
c.3319G>T (p.Ala1107Ser)
c.3262G>T (p.Ala1088Ser)
c.3361G>T (p.Ala1121Ser)
c.3337G>T (p.Ala1113Ser)
c.3172G>T (p.Ala1058Ser)
 gnomAD v4
1g.16986215C=CA1149125398ATP13A2c.*6G= (n.*6G=)
c.3247G= (p.Ala1083=)
n.1595G=
c.967G= (p.Ala323=)
c.3379G= (p.Ala1127=)
c.3376G= (p.Ala1126=)
c.3364G= (p.Ala1122=)
c.3352G= (p.Ala1118=)
c.3319G= (p.Ala1107=)
c.3262G= (p.Ala1088=)
c.3361G= (p.Ala1121=)
c.3337G= (p.Ala1113=)
c.3172G= (p.Ala1058=)
1g.16986215C>GCA636453ATP13A2c.*6G>C (n.*6G>C)
c.3247G>C (p.Ala1083Pro)
n.1595G>C
c.967G>C (p.Ala323Pro)
c.3379G>C (p.Ala1127Pro)
c.3376G>C (p.Ala1126Pro)
c.3364G>C (p.Ala1122Pro)
c.3352G>C (p.Ala1118Pro)
c.3319G>C (p.Ala1107Pro)
c.3262G>C (p.Ala1088Pro)
c.3361G>C (p.Ala1121Pro)
c.3337G>C (p.Ala1113Pro)
c.3172G>C (p.Ala1058Pro)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.16986215C>TCA338231821ATP13A2c.*6G>A (n.*6G>A)
c.3247G>A (p.Ala1083Thr)
n.1595G>A
c.967G>A (p.Ala323Thr)
c.3379G>A (p.Ala1127Thr)
c.3376G>A (p.Ala1126Thr)
c.3364G>A (p.Ala1122Thr)
c.3352G>A (p.Ala1118Thr)
c.3319G>A (p.Ala1107Thr)
c.3262G>A (p.Ala1088Thr)
c.3361G>A (p.Ala1121Thr)
c.3337G>A (p.Ala1113Thr)
c.3172G>A (p.Ala1058Thr)
1g.16986216C>ACA338231822ATP13A2c.*5G>T (n.*5G>T)
c.3246G>T (p.Gln1082His)
n.1594G>T
c.966G>T (p.Gln322His)
c.3378G>T (p.Gln1126His)
c.3375G>T (p.Gln1125His)
c.3363G>T (p.Gln1121His)
c.3351G>T (p.Gln1117His)
c.3318G>T (p.Gln1106His)
c.3261G>T (p.Gln1087His)
c.3360G>T (p.Gln1120His)
c.3336G>T (p.Gln1112His)
c.3171G>T (p.Gln1057His)
1g.16986216C=CA1156049182ATP13A2c.*5G= (n.*5G=)
c.3246G= (p.Gln1082=)
n.1594G=
c.966G= (p.Gln322=)
c.3378G= (p.Gln1126=)
c.3375G= (p.Gln1125=)
c.3363G= (p.Gln1121=)
c.3351G= (p.Gln1117=)
c.3318G= (p.Gln1106=)
c.3261G= (p.Gln1087=)
c.3360G= (p.Gln1120=)
c.3336G= (p.Gln1112=)
c.3171G= (p.Gln1057=)
1g.16986216C>GCA338231823ATP13A2c.*5G>C (n.*5G>C)
c.3246G>C (p.Gln1082His)
n.1594G>C
c.966G>C (p.Gln322His)
c.3378G>C (p.Gln1126His)
c.3375G>C (p.Gln1125His)
c.3363G>C (p.Gln1121His)
c.3351G>C (p.Gln1117His)
c.3318G>C (p.Gln1106His)
c.3261G>C (p.Gln1087His)
c.3360G>C (p.Gln1120His)
c.3336G>C (p.Gln1112His)
c.3171G>C (p.Gln1057His)
1g.16986216C>TCA18624582ATP13A2c.*5G>A (n.*5G>A)
c.3246G>A (p.Gln1082=)
n.1594G>A
c.966G>A (p.Gln322=)
c.3378G>A (p.Gln1126=)
c.3375G>A (p.Gln1125=)
c.3363G>A (p.Gln1121=)
c.3351G>A (p.Gln1117=)
c.3318G>A (p.Gln1106=)
c.3261G>A (p.Gln1087=)
c.3360G>A (p.Gln1120=)
c.3336G>A (p.Gln1112=)
c.3171G>A (p.Gln1057=)
 dbSNP gnomAD v4
1g.16986217T>ACA338231826ATP13A2c.*4A>T (n.*4A>T)
c.3245A>T (p.Gln1082Leu)
n.1593A>T
c.965A>T (p.Gln322Leu)
c.3377A>T (p.Gln1126Leu)
c.3374A>T (p.Gln1125Leu)
c.3362A>T (p.Gln1121Leu)
c.3350A>T (p.Gln1117Leu)
c.3317A>T (p.Gln1106Leu)
c.3260A>T (p.Gln1087Leu)
c.3359A>T (p.Gln1120Leu)
c.3335A>T (p.Gln1112Leu)
c.3170A>T (p.Gln1057Leu)
1g.16986217T>CCA338231825ATP13A2c.*4A>G (n.*4A>G)
c.3245A>G (p.Gln1082Arg)
n.1593A>G
c.965A>G (p.Gln322Arg)
c.3377A>G (p.Gln1126Arg)
c.3374A>G (p.Gln1125Arg)
c.3362A>G (p.Gln1121Arg)
c.3350A>G (p.Gln1117Arg)
c.3317A>G (p.Gln1106Arg)
c.3260A>G (p.Gln1087Arg)
c.3359A>G (p.Gln1120Arg)
c.3335A>G (p.Gln1112Arg)
c.3170A>G (p.Gln1057Arg)
 gnomAD v4
1g.16986217T>GCA338231824ATP13A2c.*4A>C (n.*4A>C)
c.3245A>C (p.Gln1082Pro)
n.1593A>C
c.965A>C (p.Gln322Pro)
c.3377A>C (p.Gln1126Pro)
c.3374A>C (p.Gln1125Pro)
c.3362A>C (p.Gln1121Pro)
c.3350A>C (p.Gln1117Pro)
c.3317A>C (p.Gln1106Pro)
c.3260A>C (p.Gln1087Pro)
c.3359A>C (p.Gln1120Pro)
c.3335A>C (p.Gln1112Pro)
c.3170A>C (p.Gln1057Pro)
1g.16986218G>ACA18624631ATP13A2c.*3C>T (n.*3C>T)
c.3244C>T (p.Gln1082Ter)
n.1592C>T
c.964C>T (p.Gln322Ter)
c.3376C>T (p.Gln1126Ter)
c.3373C>T (p.Gln1125Ter)
c.3361C>T (p.Gln1121Ter)
c.3349C>T (p.Gln1117Ter)
c.3316C>T (p.Gln1106Ter)
c.3259C>T (p.Gln1087Ter)
c.3358C>T (p.Gln1120Ter)
c.3334C>T (p.Gln1112Ter)
c.3169C>T (p.Gln1057Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.16986218G>CCA338231833ATP13A2c.*3C>G (n.*3C>G)
c.3244C>G (p.Gln1082Glu)
n.1592C>G
c.964C>G (p.Gln322Glu)
c.3376C>G (p.Gln1126Glu)
c.3373C>G (p.Gln1125Glu)
c.3361C>G (p.Gln1121Glu)
c.3349C>G (p.Gln1117Glu)
c.3316C>G (p.Gln1106Glu)
c.3259C>G (p.Gln1087Glu)
c.3358C>G (p.Gln1120Glu)
c.3334C>G (p.Gln1112Glu)
c.3169C>G (p.Gln1057Glu)
 dbSNP
1g.16986218G=CA1156049187ATP13A2c.*3C= (n.*3C=)
c.3244C= (p.Gln1082=)
n.1592C=
c.964C= (p.Gln322=)
c.3376C= (p.Gln1126=)
c.3373C= (p.Gln1125=)
c.3361C= (p.Gln1121=)
c.3349C= (p.Gln1117=)
c.3316C= (p.Gln1106=)
c.3259C= (p.Gln1087=)
c.3358C= (p.Gln1120=)
c.3334C= (p.Gln1112=)
c.3169C= (p.Gln1057=)
1g.16986218G>TCA338231834ATP13A2c.*3C>A (n.*3C>A)
c.3244C>A (p.Gln1082Lys)
n.1592C>A
c.964C>A (p.Gln322Lys)
c.3376C>A (p.Gln1126Lys)
c.3373C>A (p.Gln1125Lys)
c.3361C>A (p.Gln1121Lys)
c.3349C>A (p.Gln1117Lys)
c.3316C>A (p.Gln1106Lys)
c.3259C>A (p.Gln1087Lys)
c.3358C>A (p.Gln1120Lys)
c.3334C>A (p.Gln1112Lys)
c.3169C>A (p.Gln1057Lys)
 gnomAD v4
1g.16986219C>ACA2643668178ATP13A2c.*2G>T (n.*2G>T)
c.3243G>T (p.Val1081=)
n.1591G>T
c.963G>T (p.Val321=)
c.3375G>T (p.Val1125=)
c.3372G>T (p.Val1124=)
c.3360G>T (p.Val1120=)
c.3348G>T (p.Val1116=)
c.3315G>T (p.Val1105=)
c.3258G>T (p.Val1086=)
c.3357G>T (p.Val1119=)
c.3333G>T (p.Val1111=)
c.3168G>T (p.Val1056=)
 gnomAD v4
1g.16986220A>CCA338231837ATP13A2c.*1T>G (n.*1T>G)
c.3242T>G (p.Val1081Gly)
n.1590T>G
c.962T>G (p.Val321Gly)
c.3374T>G (p.Val1125Gly)
c.3371T>G (p.Val1124Gly)
c.3359T>G (p.Val1120Gly)
c.3347T>G (p.Val1116Gly)
c.3314T>G (p.Val1105Gly)
c.3257T>G (p.Val1086Gly)
c.3356T>G (p.Val1119Gly)
c.3332T>G (p.Val1111Gly)
c.3167T>G (p.Val1056Gly)
 gnomAD v4
1g.16986220A>GCA338231839ATP13A2c.*1T>C (n.*1T>C)
c.3242T>C (p.Val1081Ala)
n.1590T>C
c.962T>C (p.Val321Ala)
c.3374T>C (p.Val1125Ala)
c.3371T>C (p.Val1124Ala)
c.3359T>C (p.Val1120Ala)
c.3347T>C (p.Val1116Ala)
c.3314T>C (p.Val1105Ala)
c.3257T>C (p.Val1086Ala)
c.3356T>C (p.Val1119Ala)
c.3332T>C (p.Val1111Ala)
c.3167T>C (p.Val1056Ala)
1g.16986220A>TCA338231842ATP13A2c.*1T>A (n.*1T>A)
c.3242T>A (p.Val1081Glu)
n.1590T>A
c.962T>A (p.Val321Glu)
c.3374T>A (p.Val1125Glu)
c.3371T>A (p.Val1124Glu)
c.3359T>A (p.Val1120Glu)
c.3347T>A (p.Val1116Glu)
c.3314T>A (p.Val1105Glu)
c.3257T>A (p.Val1086Glu)
c.3356T>A (p.Val1119Glu)
c.3332T>A (p.Val1111Glu)
c.3167T>A (p.Val1056Glu)
1g.16986221C>ACA338231851ATP13A2c.3543G>T (p.Ter1181Tyr)
c.3241G>T (p.Val1081Leu)
c.3528G>T (p.Ter1176Tyr)
n.1589G>T
c.961G>T (p.Val321Leu)
c.3373G>T (p.Val1125Leu)
c.3370G>T (p.Val1124Leu)
c.3358G>T (p.Val1120Leu)
c.3346G>T (p.Val1116Leu)
c.3313G>T (p.Val1105Leu)
c.3256G>T (p.Val1086Leu)
c.3355G>T (p.Val1119Leu)
c.3331G>T (p.Val1111Leu)
c.3166G>T (p.Val1056Leu)
c.3525G>T (p.Ter1175Tyr)
c.3501G>T (p.Ter1167Tyr)
c.3498G>T (p.Ter1166Tyr)
c.3426G>T (p.Ter1142Tyr)
c.3411G>T (p.Ter1137Tyr)
c.3336G>T (p.Ter1112Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.16986221C=CA1156049195ATP13A2c.3543G= (p.Ter1181=)
c.3241G= (p.Val1081=)
c.3528G= (p.Ter1176=)
n.1589G=
c.961G= (p.Val321=)
c.3373G= (p.Val1125=)
c.3370G= (p.Val1124=)
c.3358G= (p.Val1120=)
c.3346G= (p.Val1116=)
c.3313G= (p.Val1105=)
c.3256G= (p.Val1086=)
c.3355G= (p.Val1119=)
c.3331G= (p.Val1111=)
c.3166G= (p.Val1056=)
c.3525G= (p.Ter1175=)
c.3501G= (p.Ter1167=)
c.3498G= (p.Ter1166=)
c.3426G= (p.Ter1142=)
c.3411G= (p.Ter1137=)
c.3336G= (p.Ter1112=)
1g.16986221C>GCA338231848ATP13A2c.3543G>C (p.Ter1181Tyr)
c.3241G>C (p.Val1081Leu)
c.3528G>C (p.Ter1176Tyr)
n.1589G>C
c.961G>C (p.Val321Leu)
c.3373G>C (p.Val1125Leu)
c.3370G>C (p.Val1124Leu)
c.3358G>C (p.Val1120Leu)
c.3346G>C (p.Val1116Leu)
c.3313G>C (p.Val1105Leu)
c.3256G>C (p.Val1086Leu)
c.3355G>C (p.Val1119Leu)
c.3331G>C (p.Val1111Leu)
c.3166G>C (p.Val1056Leu)
c.3525G>C (p.Ter1175Tyr)
c.3501G>C (p.Ter1167Tyr)
c.3498G>C (p.Ter1166Tyr)
c.3426G>C (p.Ter1142Tyr)
c.3411G>C (p.Ter1137Tyr)
c.3336G>C (p.Ter1112Tyr)
1g.16986221C>TCA338231845ATP13A2c.3543G>A (p.Ter1181=)
c.3241G>A (p.Val1081Met)
c.3528G>A (p.Ter1176=)
n.1589G>A
c.961G>A (p.Val321Met)
c.3373G>A (p.Val1125Met)
c.3370G>A (p.Val1124Met)
c.3358G>A (p.Val1120Met)
c.3346G>A (p.Val1116Met)
c.3313G>A (p.Val1105Met)
c.3256G>A (p.Val1086Met)
c.3355G>A (p.Val1119Met)
c.3331G>A (p.Val1111Met)
c.3166G>A (p.Val1056Met)
c.3525G>A (p.Ter1175=)
c.3501G>A (p.Ter1167=)
c.3498G>A (p.Ter1166=)
c.3426G>A (p.Ter1142=)
c.3411G>A (p.Ter1137=)
c.3336G>A (p.Ter1112=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.16986222T>ACA338231852ATP13A2c.3542A>T (p.Ter1181Leu)
c.3240A>T (p.Val1080=)
c.3527A>T (p.Ter1176Leu)
n.1588A>T
c.960A>T (p.Val320=)
c.3372A>T (p.Val1124=)
c.3369A>T (p.Val1123=)
c.3357A>T (p.Val1119=)
c.3345A>T (p.Val1115=)
c.3312A>T (p.Val1104=)
c.3255A>T (p.Val1085=)
c.3354A>T (p.Val1118=)
c.3330A>T (p.Val1110=)
c.3165A>T (p.Val1055=)
c.3524A>T (p.Ter1175Leu)
c.3500A>T (p.Ter1167Leu)
c.3497A>T (p.Ter1166Leu)
c.3425A>T (p.Ter1142Leu)
c.3410A>T (p.Ter1137Leu)
c.3335A>T (p.Ter1112Leu)
1g.16986222T>CCA338231853ATP13A2c.3542A>G (p.Ter1181Trp)
c.3240A>G (p.Val1080=)
c.3527A>G (p.Ter1176Trp)
n.1588A>G
c.960A>G (p.Val320=)
c.3372A>G (p.Val1124=)
c.3369A>G (p.Val1123=)
c.3357A>G (p.Val1119=)
c.3345A>G (p.Val1115=)
c.3312A>G (p.Val1104=)
c.3255A>G (p.Val1085=)
c.3354A>G (p.Val1118=)
c.3330A>G (p.Val1110=)
c.3165A>G (p.Val1055=)
c.3524A>G (p.Ter1175Trp)
c.3500A>G (p.Ter1167Trp)
c.3497A>G (p.Ter1166Trp)
c.3425A>G (p.Ter1142Trp)
c.3410A>G (p.Ter1137Trp)
c.3335A>G (p.Ter1112Trp)
 dbSNP gnomAD v2 gnomAD v4
1g.16986222T>GCA338231854ATP13A2c.3542A>C (p.Ter1181Ser)
c.3240A>C (p.Val1080=)
c.3527A>C (p.Ter1176Ser)
n.1588A>C
c.960A>C (p.Val320=)
c.3372A>C (p.Val1124=)
c.3369A>C (p.Val1123=)
c.3357A>C (p.Val1119=)
c.3345A>C (p.Val1115=)
c.3312A>C (p.Val1104=)
c.3255A>C (p.Val1085=)
c.3354A>C (p.Val1118=)
c.3330A>C (p.Val1110=)
c.3165A>C (p.Val1055=)
c.3524A>C (p.Ter1175Ser)
c.3500A>C (p.Ter1167Ser)
c.3497A>C (p.Ter1166Ser)
c.3425A>C (p.Ter1142Ser)
c.3410A>C (p.Ter1137Ser)
c.3335A>C (p.Ter1112Ser)
1g.16986222T=CA1156049199ATP13A2c.3542A= (p.Ter1181=)
c.3240A= (p.Val1080=)
c.3527A= (p.Ter1176=)
n.1588A=
c.960A= (p.Val320=)
c.3372A= (p.Val1124=)
c.3369A= (p.Val1123=)
c.3357A= (p.Val1119=)
c.3345A= (p.Val1115=)
c.3312A= (p.Val1104=)
c.3255A= (p.Val1085=)
c.3354A= (p.Val1118=)
c.3330A= (p.Val1110=)
c.3165A= (p.Val1055=)
c.3524A= (p.Ter1175=)
c.3500A= (p.Ter1167=)
c.3497A= (p.Ter1166=)
c.3425A= (p.Ter1142=)
c.3410A= (p.Ter1137=)
c.3335A= (p.Ter1112=)
1g.16986223A=CA1156049202ATP13A2c.3541T= (p.Ter1181=)
c.3239T= (p.Val1080=)
c.3526T= (p.Ter1176=)
n.1587T=
c.959T= (p.Val320=)
c.3371T= (p.Val1124=)
c.3368T= (p.Val1123=)
c.3356T= (p.Val1119=)
c.3344T= (p.Val1115=)
c.3311T= (p.Val1104=)
c.3254T= (p.Val1085=)
c.3353T= (p.Val1118=)
c.3329T= (p.Val1110=)
c.3164T= (p.Val1055=)
c.3523T= (p.Ter1175=)
c.3499T= (p.Ter1167=)
c.3496T= (p.Ter1166=)
c.3424T= (p.Ter1142=)
c.3409T= (p.Ter1137=)
c.3334T= (p.Ter1112=)
1g.16986223A>CCA338231856ATP13A2c.3541T>G (p.Ter1181Glu)
c.3239T>G (p.Val1080Gly)
c.3526T>G (p.Ter1176Glu)
n.1587T>G
c.959T>G (p.Val320Gly)
c.3371T>G (p.Val1124Gly)
c.3368T>G (p.Val1123Gly)
c.3356T>G (p.Val1119Gly)
c.3344T>G (p.Val1115Gly)
c.3311T>G (p.Val1104Gly)
c.3254T>G (p.Val1085Gly)
c.3353T>G (p.Val1118Gly)
c.3329T>G (p.Val1110Gly)
c.3164T>G (p.Val1055Gly)
c.3523T>G (p.Ter1175Glu)
c.3499T>G (p.Ter1167Glu)
c.3496T>G (p.Ter1166Glu)
c.3424T>G (p.Ter1142Glu)
c.3409T>G (p.Ter1137Glu)
c.3334T>G (p.Ter1112Glu)
1g.16986223A>GCA338231857ATP13A2c.3541T>C (p.Ter1181Gln)
c.3239T>C (p.Val1080Ala)
c.3526T>C (p.Ter1176Gln)
n.1587T>C
c.959T>C (p.Val320Ala)
c.3371T>C (p.Val1124Ala)
c.3368T>C (p.Val1123Ala)
c.3356T>C (p.Val1119Ala)
c.3344T>C (p.Val1115Ala)
c.3311T>C (p.Val1104Ala)
c.3254T>C (p.Val1085Ala)
c.3353T>C (p.Val1118Ala)
c.3329T>C (p.Val1110Ala)
c.3164T>C (p.Val1055Ala)
c.3523T>C (p.Ter1175Gln)
c.3499T>C (p.Ter1167Gln)
c.3496T>C (p.Ter1166Gln)
c.3424T>C (p.Ter1142Gln)
c.3409T>C (p.Ter1137Gln)
c.3334T>C (p.Ter1112Gln)
 dbSNP gnomAD v2
1g.16986223A>TCA338231859ATP13A2c.3541T>A (p.Ter1181Lys)
c.3239T>A (p.Val1080Glu)
c.3526T>A (p.Ter1176Lys)
n.1587T>A
c.959T>A (p.Val320Glu)
c.3371T>A (p.Val1124Glu)
c.3368T>A (p.Val1123Glu)
c.3356T>A (p.Val1119Glu)
c.3344T>A (p.Val1115Glu)
c.3311T>A (p.Val1104Glu)
c.3254T>A (p.Val1085Glu)
c.3353T>A (p.Val1118Glu)
c.3329T>A (p.Val1110Glu)
c.3164T>A (p.Val1055Glu)
c.3523T>A (p.Ter1175Lys)
c.3499T>A (p.Ter1167Lys)
c.3496T>A (p.Ter1166Lys)
c.3424T>A (p.Ter1142Lys)
c.3409T>A (p.Ter1137Lys)
c.3334T>A (p.Ter1112Lys)
1g.16986224C>ACA338231862ATP13A2c.3540G>T (p.Arg1180Ser)
c.3238G>T (p.Val1080Leu)
c.3525G>T (p.Arg1175Ser)
n.1586G>T
c.958G>T (p.Val320Leu)
c.3370G>T (p.Val1124Leu)
c.3367G>T (p.Val1123Leu)
c.3355G>T (p.Val1119Leu)
c.3343G>T (p.Val1115Leu)
c.3310G>T (p.Val1104Leu)
c.3253G>T (p.Val1085Leu)
c.3352G>T (p.Val1118Leu)
c.3328G>T (p.Val1110Leu)
c.3163G>T (p.Val1055Leu)
c.3522G>T (p.Arg1174Ser)
c.3498G>T (p.Arg1166Ser)
c.3495G>T (p.Arg1165Ser)
c.3423G>T (p.Arg1141Ser)
c.3408G>T (p.Arg1136Ser)
c.3333G>T (p.Arg1111Ser)
1g.16986224C>GCA338231865ATP13A2c.3540G>C (p.Arg1180Ser)
c.3238G>C (p.Val1080Leu)
c.3525G>C (p.Arg1175Ser)
n.1586G>C
c.958G>C (p.Val320Leu)
c.3370G>C (p.Val1124Leu)
c.3367G>C (p.Val1123Leu)
c.3355G>C (p.Val1119Leu)
c.3343G>C (p.Val1115Leu)
c.3310G>C (p.Val1104Leu)
c.3253G>C (p.Val1085Leu)
c.3352G>C (p.Val1118Leu)
c.3328G>C (p.Val1110Leu)
c.3163G>C (p.Val1055Leu)
c.3522G>C (p.Arg1174Ser)
c.3498G>C (p.Arg1166Ser)
c.3495G>C (p.Arg1165Ser)
c.3423G>C (p.Arg1141Ser)
c.3408G>C (p.Arg1136Ser)
c.3333G>C (p.Arg1111Ser)
1g.16986224C>TCA338231863ATP13A2c.3540G>A (p.Arg1180=)
c.3238G>A (p.Val1080Ile)
c.3525G>A (p.Arg1175=)
n.1586G>A
c.958G>A (p.Val320Ile)
c.3370G>A (p.Val1124Ile)
c.3367G>A (p.Val1123Ile)
c.3355G>A (p.Val1119Ile)
c.3343G>A (p.Val1115Ile)
c.3310G>A (p.Val1104Ile)
c.3253G>A (p.Val1085Ile)
c.3352G>A (p.Val1118Ile)
c.3328G>A (p.Val1110Ile)
c.3163G>A (p.Val1055Ile)
c.3522G>A (p.Arg1174=)
c.3498G>A (p.Arg1166=)
c.3495G>A (p.Arg1165=)
c.3423G>A (p.Arg1141=)
c.3408G>A (p.Arg1136=)
c.3333G>A (p.Arg1111=)
 gnomAD v4
1g.16986225C>ACA338231871ATP13A2c.3539G>T (p.Arg1180Met)
c.3237G>T (p.Glu1079Asp)
c.3524G>T (p.Arg1175Met)
n.1585G>T
c.957G>T (p.Glu319Asp)
c.3369G>T (p.Glu1123Asp)
c.3366G>T (p.Glu1122Asp)
c.3354G>T (p.Glu1118Asp)
c.3342G>T (p.Glu1114Asp)
c.3309G>T (p.Glu1103Asp)
c.3252G>T (p.Glu1084Asp)
c.3351G>T (p.Glu1117Asp)
c.3327G>T (p.Glu1109Asp)
c.3162G>T (p.Glu1054Asp)
c.3521G>T (p.Arg1174Met)
c.3497G>T (p.Arg1166Met)
c.3494G>T (p.Arg1165Met)
c.3422G>T (p.Arg1141Met)
c.3407G>T (p.Arg1136Met)
c.3332G>T (p.Arg1111Met)
1g.16986225C=CA1156049209ATP13A2c.3539G= (p.Arg1180=)
c.3237G= (p.Glu1079=)
c.3524G= (p.Arg1175=)
n.1585G=
c.957G= (p.Glu319=)
c.3369G= (p.Glu1123=)
c.3366G= (p.Glu1122=)
c.3354G= (p.Glu1118=)
c.3342G= (p.Glu1114=)
c.3309G= (p.Glu1103=)
c.3252G= (p.Glu1084=)
c.3351G= (p.Glu1117=)
c.3327G= (p.Glu1109=)
c.3162G= (p.Glu1054=)
c.3521G= (p.Arg1174=)
c.3497G= (p.Arg1166=)
c.3494G= (p.Arg1165=)
c.3422G= (p.Arg1141=)
c.3407G= (p.Arg1136=)
c.3332G= (p.Arg1111=)
1g.16986225C>GCA338231874ATP13A2c.3539G>C (p.Arg1180Thr)
c.3237G>C (p.Glu1079Asp)
c.3524G>C (p.Arg1175Thr)
n.1585G>C
c.957G>C (p.Glu319Asp)
c.3369G>C (p.Glu1123Asp)
c.3366G>C (p.Glu1122Asp)
c.3354G>C (p.Glu1118Asp)
c.3342G>C (p.Glu1114Asp)
c.3309G>C (p.Glu1103Asp)
c.3252G>C (p.Glu1084Asp)
c.3351G>C (p.Glu1117Asp)
c.3327G>C (p.Glu1109Asp)
c.3162G>C (p.Glu1054Asp)
c.3521G>C (p.Arg1174Thr)
c.3497G>C (p.Arg1166Thr)
c.3494G>C (p.Arg1165Thr)
c.3422G>C (p.Arg1141Thr)
c.3407G>C (p.Arg1136Thr)
c.3332G>C (p.Arg1111Thr)
1g.16986225C>TCA636454ATP13A2c.3539G>A (p.Arg1180Lys)
c.3237G>A (p.Glu1079=)
c.3524G>A (p.Arg1175Lys)
n.1585G>A
c.957G>A (p.Glu319=)
c.3369G>A (p.Glu1123=)
c.3366G>A (p.Glu1122=)
c.3354G>A (p.Glu1118=)
c.3342G>A (p.Glu1114=)
c.3309G>A (p.Glu1103=)
c.3252G>A (p.Glu1084=)
c.3351G>A (p.Glu1117=)
c.3327G>A (p.Glu1109=)
c.3162G>A (p.Glu1054=)
c.3521G>A (p.Arg1174Lys)
c.3497G>A (p.Arg1166Lys)
c.3494G>A (p.Arg1165Lys)
c.3422G>A (p.Arg1141Lys)
c.3407G>A (p.Arg1136Lys)
c.3332G>A (p.Arg1111Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986226T>ACA636455ATP13A2c.3538A>T (p.Arg1180Trp)
c.3236A>T (p.Glu1079Val)
c.3523A>T (p.Arg1175Trp)
n.1584A>T
c.956A>T (p.Glu319Val)
c.3368A>T (p.Glu1123Val)
c.3365A>T (p.Glu1122Val)
c.3353A>T (p.Glu1118Val)
c.3341A>T (p.Glu1114Val)
c.3308A>T (p.Glu1103Val)
c.3251A>T (p.Glu1084Val)
c.3350A>T (p.Glu1117Val)
c.3326A>T (p.Glu1109Val)
c.3161A>T (p.Glu1054Val)
c.3520A>T (p.Arg1174Trp)
c.3496A>T (p.Arg1166Trp)
c.3493A>T (p.Arg1165Trp)
c.3421A>T (p.Arg1141Trp)
c.3406A>T (p.Arg1136Trp)
c.3331A>T (p.Arg1111Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986226T>CCA338231886ATP13A2c.3538A>G (p.Arg1180Gly)
c.3236A>G (p.Glu1079Gly)
c.3523A>G (p.Arg1175Gly)
n.1584A>G
c.956A>G (p.Glu319Gly)
c.3368A>G (p.Glu1123Gly)
c.3365A>G (p.Glu1122Gly)
c.3353A>G (p.Glu1118Gly)
c.3341A>G (p.Glu1114Gly)
c.3308A>G (p.Glu1103Gly)
c.3251A>G (p.Glu1084Gly)
c.3350A>G (p.Glu1117Gly)
c.3326A>G (p.Glu1109Gly)
c.3161A>G (p.Glu1054Gly)
c.3520A>G (p.Arg1174Gly)
c.3496A>G (p.Arg1166Gly)
c.3493A>G (p.Arg1165Gly)
c.3421A>G (p.Arg1141Gly)
c.3406A>G (p.Arg1136Gly)
c.3331A>G (p.Arg1111Gly)
1g.16986226T>GCA338231887ATP13A2c.3538A>C (p.Arg1180=)
c.3236A>C (p.Glu1079Ala)
c.3523A>C (p.Arg1175=)
n.1584A>C
c.956A>C (p.Glu319Ala)
c.3368A>C (p.Glu1123Ala)
c.3365A>C (p.Glu1122Ala)
c.3353A>C (p.Glu1118Ala)
c.3341A>C (p.Glu1114Ala)
c.3308A>C (p.Glu1103Ala)
c.3251A>C (p.Glu1084Ala)
c.3350A>C (p.Glu1117Ala)
c.3326A>C (p.Glu1109Ala)
c.3161A>C (p.Glu1054Ala)
c.3520A>C (p.Arg1174=)
c.3496A>C (p.Arg1166=)
c.3493A>C (p.Arg1165=)
c.3421A>C (p.Arg1141=)
c.3406A>C (p.Arg1136=)
c.3331A>C (p.Arg1111=)
1g.16986226T=CA1156049217ATP13A2c.3538A= (p.Arg1180=)
c.3236A= (p.Glu1079=)
c.3523A= (p.Arg1175=)
n.1584A=
c.956A= (p.Glu319=)
c.3368A= (p.Glu1123=)
c.3365A= (p.Glu1122=)
c.3353A= (p.Glu1118=)
c.3341A= (p.Glu1114=)
c.3308A= (p.Glu1103=)
c.3251A= (p.Glu1084=)
c.3350A= (p.Glu1117=)
c.3326A= (p.Glu1109=)
c.3161A= (p.Glu1054=)
c.3520A= (p.Arg1174=)
c.3496A= (p.Arg1166=)
c.3493A= (p.Arg1165=)
c.3421A= (p.Arg1141=)
c.3406A= (p.Arg1136=)
c.3331A= (p.Arg1111=)
1g.16986227C>ACA338231891ATP13A2c.3537G>T (p.Leu1179=)
c.3235G>T (p.Glu1079Ter)
c.3522G>T (p.Leu1174=)
n.1583G>T
c.955G>T (p.Glu319Ter)
c.3367G>T (p.Glu1123Ter)
c.3364G>T (p.Glu1122Ter)
c.3352G>T (p.Glu1118Ter)
c.3340G>T (p.Glu1114Ter)
c.3307G>T (p.Glu1103Ter)
c.3250G>T (p.Glu1084Ter)
c.3349G>T (p.Glu1117Ter)
c.3325G>T (p.Glu1109Ter)
c.3160G>T (p.Glu1054Ter)
c.3519G>T (p.Leu1173=)
c.3495G>T (p.Leu1165=)
c.3492G>T (p.Leu1164=)
c.3420G>T (p.Leu1140=)
c.3405G>T (p.Leu1135=)
c.3330G>T (p.Leu1110=)
 gnomAD v4
1g.16986227C=CA1156049226ATP13A2c.3537G= (p.Leu1179=)
c.3235G= (p.Glu1079=)
c.3522G= (p.Leu1174=)
n.1583G=
c.955G= (p.Glu319=)
c.3367G= (p.Glu1123=)
c.3364G= (p.Glu1122=)
c.3352G= (p.Glu1118=)
c.3340G= (p.Glu1114=)
c.3307G= (p.Glu1103=)
c.3250G= (p.Glu1084=)
c.3349G= (p.Glu1117=)
c.3325G= (p.Glu1109=)
c.3160G= (p.Glu1054=)
c.3519G= (p.Leu1173=)
c.3495G= (p.Leu1165=)
c.3492G= (p.Leu1164=)
c.3420G= (p.Leu1140=)
c.3405G= (p.Leu1135=)
c.3330G= (p.Leu1110=)
1g.16986227C>GCA338231894ATP13A2c.3537G>C (p.Leu1179=)
c.3235G>C (p.Glu1079Gln)
c.3522G>C (p.Leu1174=)
n.1583G>C
c.955G>C (p.Glu319Gln)
c.3367G>C (p.Glu1123Gln)
c.3364G>C (p.Glu1122Gln)
c.3352G>C (p.Glu1118Gln)
c.3340G>C (p.Glu1114Gln)
c.3307G>C (p.Glu1103Gln)
c.3250G>C (p.Glu1084Gln)
c.3349G>C (p.Glu1117Gln)
c.3325G>C (p.Glu1109Gln)
c.3160G>C (p.Glu1054Gln)
c.3519G>C (p.Leu1173=)
c.3495G>C (p.Leu1165=)
c.3492G>C (p.Leu1164=)
c.3420G>C (p.Leu1140=)
c.3405G>C (p.Leu1135=)
c.3330G>C (p.Leu1110=)
 dbSNP gnomAD v2 gnomAD v4
1g.16986227C>TCA338231900ATP13A2c.3537G>A (p.Leu1179=)
c.3235G>A (p.Glu1079Lys)
c.3522G>A (p.Leu1174=)
n.1583G>A
c.955G>A (p.Glu319Lys)
c.3367G>A (p.Glu1123Lys)
c.3364G>A (p.Glu1122Lys)
c.3352G>A (p.Glu1118Lys)
c.3340G>A (p.Glu1114Lys)
c.3307G>A (p.Glu1103Lys)
c.3250G>A (p.Glu1084Lys)
c.3349G>A (p.Glu1117Lys)
c.3325G>A (p.Glu1109Lys)
c.3160G>A (p.Glu1054Lys)
c.3519G>A (p.Leu1173=)
c.3495G>A (p.Leu1165=)
c.3492G>A (p.Leu1164=)
c.3420G>A (p.Leu1140=)
c.3405G>A (p.Leu1135=)
c.3330G>A (p.Leu1110=)
 ClinVar dbSNP
1g.16986228A>CCA338231902ATP13A2c.3536T>G (p.Leu1179Arg)
c.3234T>G (p.Pro1078=)
c.3521T>G (p.Leu1174Arg)
n.1582T>G
c.954T>G (p.Pro318=)
c.3366T>G (p.Pro1122=)
c.3363T>G (p.Pro1121=)
c.3351T>G (p.Pro1117=)
c.3339T>G (p.Pro1113=)
c.3306T>G (p.Pro1102=)
c.3249T>G (p.Pro1083=)
c.3348T>G (p.Pro1116=)
c.3324T>G (p.Pro1108=)
c.3159T>G (p.Pro1053=)
c.3518T>G (p.Leu1173Arg)
c.3494T>G (p.Leu1165Arg)
c.3491T>G (p.Leu1164Arg)
c.3419T>G (p.Leu1140Arg)
c.3404T>G (p.Leu1135Arg)
c.3329T>G (p.Leu1110Arg)
1g.16986228A>GCA338231903ATP13A2c.3536T>C (p.Leu1179Pro)
c.3234T>C (p.Pro1078=)
c.3521T>C (p.Leu1174Pro)
n.1582T>C
c.954T>C (p.Pro318=)
c.3366T>C (p.Pro1122=)
c.3363T>C (p.Pro1121=)
c.3351T>C (p.Pro1117=)
c.3339T>C (p.Pro1113=)
c.3306T>C (p.Pro1102=)
c.3249T>C (p.Pro1083=)
c.3348T>C (p.Pro1116=)
c.3324T>C (p.Pro1108=)
c.3159T>C (p.Pro1053=)
c.3518T>C (p.Leu1173Pro)
c.3494T>C (p.Leu1165Pro)
c.3491T>C (p.Leu1164Pro)
c.3419T>C (p.Leu1140Pro)
c.3404T>C (p.Leu1135Pro)
c.3329T>C (p.Leu1110Pro)
 gnomAD v4
1g.16986228A>TCA338231905ATP13A2c.3536T>A (p.Leu1179Gln)
c.3234T>A (p.Pro1078=)
c.3521T>A (p.Leu1174Gln)
n.1582T>A
c.954T>A (p.Pro318=)
c.3366T>A (p.Pro1122=)
c.3363T>A (p.Pro1121=)
c.3351T>A (p.Pro1117=)
c.3339T>A (p.Pro1113=)
c.3306T>A (p.Pro1102=)
c.3249T>A (p.Pro1083=)
c.3348T>A (p.Pro1116=)
c.3324T>A (p.Pro1108=)
c.3159T>A (p.Pro1053=)
c.3518T>A (p.Leu1173Gln)
c.3494T>A (p.Leu1165Gln)
c.3491T>A (p.Leu1164Gln)
c.3419T>A (p.Leu1140Gln)
c.3404T>A (p.Leu1135Gln)
c.3329T>A (p.Leu1110Gln)
1g.16986228_16986229delCA2580060604ATP13A2c.3535_3536del (p.Leu1179GlufsTer?)
c.3233_3234del (p.Pro1078ArgfsTer?)
c.3520_3521del (p.Leu1174GlufsTer?)
n.1581_1582del
c.953_954del (p.Pro318ArgfsTer?)
c.3365_3366del (p.Pro1122ArgfsTer?)
c.3362_3363del (p.Pro1121ArgfsTer?)
c.3350_3351del (p.Pro1117ArgfsTer?)
c.3338_3339del (p.Pro1113ArgfsTer?)
c.3305_3306del (p.Pro1102ArgfsTer?)
c.3248_3249del (p.Pro1083ArgfsTer?)
c.3347_3348del (p.Pro1116ArgfsTer?)
c.3323_3324del (p.Pro1108ArgfsTer?)
c.3158_3159del (p.Pro1053ArgfsTer?)
c.3517_3518del (p.Leu1173GlufsTer?)
c.3493_3494del (p.Leu1165GlufsTer?)
c.3490_3491del (p.Leu1164GlufsTer?)
c.3418_3419del (p.Leu1140GlufsTer?)
c.3403_3404del (p.Leu1135GlufsTer?)
c.3328_3329del (p.Leu1110GlufsTer?)
 ClinVar
1g.16986228_16986229delinsAGCA1156049230ATP13A2c.3535_3536delinsCT (p.Leu1179=)
c.3233_3234delinsCT (p.Pro1078=)
c.3520_3521delinsCT (p.Leu1174=)
n.1581_1582delinsCT
c.953_954delinsCT (p.Pro318=)
c.3365_3366delinsCT (p.Pro1122=)
c.3362_3363delinsCT (p.Pro1121=)
c.3350_3351delinsCT (p.Pro1117=)
c.3338_3339delinsCT (p.Pro1113=)
c.3305_3306delinsCT (p.Pro1102=)
c.3248_3249delinsCT (p.Pro1083=)
c.3347_3348delinsCT (p.Pro1116=)
c.3323_3324delinsCT (p.Pro1108=)
c.3158_3159delinsCT (p.Pro1053=)
c.3517_3518delinsCT (p.Leu1173=)
c.3493_3494delinsCT (p.Leu1165=)
c.3490_3491delinsCT (p.Leu1164=)
c.3418_3419delinsCT (p.Leu1140=)
c.3403_3404delinsCT (p.Leu1135=)
c.3328_3329delinsCT (p.Leu1110=)
1g.16986229G>ACA338231907ATP13A2c.3535C>T (p.Leu1179=)
c.3233C>T (p.Pro1078Leu)
c.3520C>T (p.Leu1174=)
n.1581C>T
c.953C>T (p.Pro318Leu)
c.3365C>T (p.Pro1122Leu)
c.3362C>T (p.Pro1121Leu)
c.3350C>T (p.Pro1117Leu)
c.3338C>T (p.Pro1113Leu)
c.3305C>T (p.Pro1102Leu)
c.3248C>T (p.Pro1083Leu)
c.3347C>T (p.Pro1116Leu)
c.3323C>T (p.Pro1108Leu)
c.3158C>T (p.Pro1053Leu)
c.3517C>T (p.Leu1173=)
c.3493C>T (p.Leu1165=)
c.3490C>T (p.Leu1164=)
c.3418C>T (p.Leu1140=)
c.3403C>T (p.Leu1135=)
c.3328C>T (p.Leu1110=)
 gnomAD v4
1g.16986229G>CCA338231909ATP13A2c.3535C>G (p.Leu1179Val)
c.3233C>G (p.Pro1078Arg)
c.3520C>G (p.Leu1174Val)
n.1581C>G
c.953C>G (p.Pro318Arg)
c.3365C>G (p.Pro1122Arg)
c.3362C>G (p.Pro1121Arg)
c.3350C>G (p.Pro1117Arg)
c.3338C>G (p.Pro1113Arg)
c.3305C>G (p.Pro1102Arg)
c.3248C>G (p.Pro1083Arg)
c.3347C>G (p.Pro1116Arg)
c.3323C>G (p.Pro1108Arg)
c.3158C>G (p.Pro1053Arg)
c.3517C>G (p.Leu1173Val)
c.3493C>G (p.Leu1165Val)
c.3490C>G (p.Leu1164Val)
c.3418C>G (p.Leu1140Val)
c.3403C>G (p.Leu1135Val)
c.3328C>G (p.Leu1110Val)
 dbSNP gnomAD v4
1g.16986229G=CA1156049240ATP13A2c.3535C= (p.Leu1179=)
c.3233C= (p.Pro1078=)
c.3520C= (p.Leu1174=)
n.1581C=
c.953C= (p.Pro318=)
c.3365C= (p.Pro1122=)
c.3362C= (p.Pro1121=)
c.3350C= (p.Pro1117=)
c.3338C= (p.Pro1113=)
c.3305C= (p.Pro1102=)
c.3248C= (p.Pro1083=)
c.3347C= (p.Pro1116=)
c.3323C= (p.Pro1108=)
c.3158C= (p.Pro1053=)
c.3517C= (p.Leu1173=)
c.3493C= (p.Leu1165=)
c.3490C= (p.Leu1164=)
c.3418C= (p.Leu1140=)
c.3403C= (p.Leu1135=)
c.3328C= (p.Leu1110=)
1g.16986229G>TCA338231908ATP13A2c.3535C>A (p.Leu1179Met)
c.3233C>A (p.Pro1078His)
c.3520C>A (p.Leu1174Met)
n.1581C>A
c.953C>A (p.Pro318His)
c.3365C>A (p.Pro1122His)
c.3362C>A (p.Pro1121His)
c.3350C>A (p.Pro1117His)
c.3338C>A (p.Pro1113His)
c.3305C>A (p.Pro1102His)
c.3248C>A (p.Pro1083His)
c.3347C>A (p.Pro1116His)
c.3323C>A (p.Pro1108His)
c.3158C>A (p.Pro1053His)
c.3517C>A (p.Leu1173Met)
c.3493C>A (p.Leu1165Met)
c.3490C>A (p.Leu1164Met)
c.3418C>A (p.Leu1140Met)
c.3403C>A (p.Leu1135Met)
c.3328C>A (p.Leu1110Met)
1g.16986233dupCA1156049237ATP13A2c.3535dup (p.Leu1179ProfsTer?)
c.3233dup (p.Glu1079Ter)
c.3520dup (p.Leu1174ProfsTer?)
n.1581dup
c.953dup (p.Glu319Ter)
c.3365dup (p.Glu1123Ter)
c.3362dup (p.Glu1122Ter)
c.3350dup (p.Glu1118Ter)
c.3338dup (p.Glu1114Ter)
c.3305dup (p.Glu1103Ter)
c.3248dup (p.Glu1084Ter)
c.3347dup (p.Glu1117Ter)
c.3323dup (p.Glu1109Ter)
c.3158dup (p.Glu1054Ter)
c.3517dup (p.Leu1173ProfsTer?)
c.3493dup (p.Leu1165ProfsTer?)
c.3490dup (p.Leu1164ProfsTer?)
c.3418dup (p.Leu1140ProfsTer?)
c.3403dup (p.Leu1135ProfsTer?)
c.3328dup (p.Leu1110ProfsTer?)
 dbSNP
1g.16986233delCA915941146ATP13A2c.3535del (p.Leu1179Ter)
c.3233del (p.Pro1078LeufsTer3)
c.3520del (p.Leu1174Ter)
n.1581del
c.953del (p.Pro318LeufsTer3)
c.3365del (p.Pro1122LeufsTer3)
c.3362del (p.Pro1121LeufsTer3)
c.3350del (p.Pro1117LeufsTer3)
c.3338del (p.Pro1113LeufsTer3)
c.3305del (p.Pro1102LeufsTer3)
c.3248del (p.Pro1083LeufsTer3)
c.3347del (p.Pro1116LeufsTer3)
c.3323del (p.Pro1108LeufsTer3)
c.3158del (p.Pro1053LeufsTer3)
c.3517del (p.Leu1173Ter)
c.3493del (p.Leu1165Ter)
c.3490del (p.Leu1164Ter)
c.3418del (p.Leu1140Ter)
c.3403del (p.Leu1135Ter)
c.3328del (p.Leu1110Ter)
 ClinVar dbSNP gnomAD v4
1g.16986230G>ACA338231911ATP13A2c.3534C>T (p.Pro1178=)
c.3232C>T (p.Pro1078Ser)
c.3519C>T (p.Pro1173=)
n.1580C>T
c.952C>T (p.Pro318Ser)
c.3364C>T (p.Pro1122Ser)
c.3361C>T (p.Pro1121Ser)
c.3349C>T (p.Pro1117Ser)
c.3337C>T (p.Pro1113Ser)
c.3304C>T (p.Pro1102Ser)
c.3247C>T (p.Pro1083Ser)
c.3346C>T (p.Pro1116Ser)
c.3322C>T (p.Pro1108Ser)
c.3157C>T (p.Pro1053Ser)
c.3516C>T (p.Pro1172=)
c.3492C>T (p.Pro1164=)
c.3489C>T (p.Pro1163=)
c.3417C>T (p.Pro1139=)
c.3402C>T (p.Pro1134=)
c.3327C>T (p.Pro1109=)
 dbSNP gnomAD v2
1g.16986230G>CCA338231915ATP13A2c.3534C>G (p.Pro1178=)
c.3232C>G (p.Pro1078Ala)
c.3519C>G (p.Pro1173=)
n.1580C>G
c.952C>G (p.Pro318Ala)
c.3364C>G (p.Pro1122Ala)
c.3361C>G (p.Pro1121Ala)
c.3349C>G (p.Pro1117Ala)
c.3337C>G (p.Pro1113Ala)
c.3304C>G (p.Pro1102Ala)
c.3247C>G (p.Pro1083Ala)
c.3346C>G (p.Pro1116Ala)
c.3322C>G (p.Pro1108Ala)
c.3157C>G (p.Pro1053Ala)
c.3516C>G (p.Pro1172=)
c.3492C>G (p.Pro1164=)
c.3489C>G (p.Pro1163=)
c.3417C>G (p.Pro1139=)
c.3402C>G (p.Pro1134=)
c.3327C>G (p.Pro1109=)
1g.16986230G=CA1156049249ATP13A2c.3534C= (p.Pro1178=)
c.3232C= (p.Pro1078=)
c.3519C= (p.Pro1173=)
n.1580C=
c.952C= (p.Pro318=)
c.3364C= (p.Pro1122=)
c.3361C= (p.Pro1121=)
c.3349C= (p.Pro1117=)
c.3337C= (p.Pro1113=)
c.3304C= (p.Pro1102=)
c.3247C= (p.Pro1083=)
c.3346C= (p.Pro1116=)
c.3322C= (p.Pro1108=)
c.3157C= (p.Pro1053=)
c.3516C= (p.Pro1172=)
c.3492C= (p.Pro1164=)
c.3489C= (p.Pro1163=)
c.3417C= (p.Pro1139=)
c.3402C= (p.Pro1134=)
c.3327C= (p.Pro1109=)
1g.16986230G>TCA338231914ATP13A2c.3534C>A (p.Pro1178=)
c.3232C>A (p.Pro1078Thr)
c.3519C>A (p.Pro1173=)
n.1580C>A
c.952C>A (p.Pro318Thr)
c.3364C>A (p.Pro1122Thr)
c.3361C>A (p.Pro1121Thr)
c.3349C>A (p.Pro1117Thr)
c.3337C>A (p.Pro1113Thr)
c.3304C>A (p.Pro1102Thr)
c.3247C>A (p.Pro1083Thr)
c.3346C>A (p.Pro1116Thr)
c.3322C>A (p.Pro1108Thr)
c.3157C>A (p.Pro1053Thr)
c.3516C>A (p.Pro1172=)
c.3492C>A (p.Pro1164=)
c.3489C>A (p.Pro1163=)
c.3417C>A (p.Pro1139=)
c.3402C>A (p.Pro1134=)
c.3327C>A (p.Pro1109=)
1g.16986231G>ACA338231916ATP13A2c.3533C>T (p.Pro1178Leu)
c.3231C>T (p.Pro1077=)
c.3518C>T (p.Pro1173Leu)
n.1579C>T
c.951C>T (p.Pro317=)
c.3363C>T (p.Pro1121=)
c.3360C>T (p.Pro1120=)
c.3348C>T (p.Pro1116=)
c.3336C>T (p.Pro1112=)
c.3303C>T (p.Pro1101=)
c.3246C>T (p.Pro1082=)
c.3345C>T (p.Pro1115=)
c.3321C>T (p.Pro1107=)
c.3156C>T (p.Pro1052=)
c.3515C>T (p.Pro1172Leu)
c.3491C>T (p.Pro1164Leu)
c.3488C>T (p.Pro1163Leu)
c.3416C>T (p.Pro1139Leu)
c.3401C>T (p.Pro1134Leu)
c.3326C>T (p.Pro1109Leu)
 dbSNP gnomAD v4
1g.16986231G>CCA338231918ATP13A2c.3533C>G (p.Pro1178Arg)
c.3231C>G (p.Pro1077=)
c.3518C>G (p.Pro1173Arg)
n.1579C>G
c.951C>G (p.Pro317=)
c.3363C>G (p.Pro1121=)
c.3360C>G (p.Pro1120=)
c.3348C>G (p.Pro1116=)
c.3336C>G (p.Pro1112=)
c.3303C>G (p.Pro1101=)
c.3246C>G (p.Pro1082=)
c.3345C>G (p.Pro1115=)
c.3321C>G (p.Pro1107=)
c.3156C>G (p.Pro1052=)
c.3515C>G (p.Pro1172Arg)
c.3491C>G (p.Pro1164Arg)
c.3488C>G (p.Pro1163Arg)
c.3416C>G (p.Pro1139Arg)
c.3401C>G (p.Pro1134Arg)
c.3326C>G (p.Pro1109Arg)
1g.16986231G=CA1156049251ATP13A2c.3533C= (p.Pro1178=)
c.3231C= (p.Pro1077=)
c.3518C= (p.Pro1173=)
n.1579C=
c.951C= (p.Pro317=)
c.3363C= (p.Pro1121=)
c.3360C= (p.Pro1120=)
c.3348C= (p.Pro1116=)
c.3336C= (p.Pro1112=)
c.3303C= (p.Pro1101=)
c.3246C= (p.Pro1082=)
c.3345C= (p.Pro1115=)
c.3321C= (p.Pro1107=)
c.3156C= (p.Pro1052=)
c.3515C= (p.Pro1172=)
c.3491C= (p.Pro1164=)
c.3488C= (p.Pro1163=)
c.3416C= (p.Pro1139=)
c.3401C= (p.Pro1134=)
c.3326C= (p.Pro1109=)
1g.16986231G>TCA338231920ATP13A2c.3533C>A (p.Pro1178His)
c.3231C>A (p.Pro1077=)
c.3518C>A (p.Pro1173His)
n.1579C>A
c.951C>A (p.Pro317=)
c.3363C>A (p.Pro1121=)
c.3360C>A (p.Pro1120=)
c.3348C>A (p.Pro1116=)
c.3336C>A (p.Pro1112=)
c.3303C>A (p.Pro1101=)
c.3246C>A (p.Pro1082=)
c.3345C>A (p.Pro1115=)
c.3321C>A (p.Pro1107=)
c.3156C>A (p.Pro1052=)
c.3515C>A (p.Pro1172His)
c.3491C>A (p.Pro1164His)
c.3488C>A (p.Pro1163His)
c.3416C>A (p.Pro1139His)
c.3401C>A (p.Pro1134His)
c.3326C>A (p.Pro1109His)
 dbSNP gnomAD v2 gnomAD v4
1g.16986235_16986242delCA2643668255ATP13A2c.3526_3533del (p.Ala1176ProfsTer?)
c.3224_3231del (p.Arg1075ProfsTer2)
c.3511_3518del (p.Ala1171ProfsTer?)
n.1572_1579del
c.944_951del (p.Arg315ProfsTer2)
c.3356_3363del (p.Arg1119ProfsTer2)
c.3353_3360del (p.Arg1118ProfsTer2)
c.3341_3348del (p.Arg1114ProfsTer2)
c.3329_3336del (p.Arg1110ProfsTer2)
c.3296_3303del (p.Arg1099ProfsTer2)
c.3239_3246del (p.Arg1080ProfsTer2)
c.3338_3345del (p.Arg1113ProfsTer2)
c.3314_3321del (p.Arg1105ProfsTer2)
c.3149_3156del (p.Arg1050ProfsTer2)
c.3508_3515del (p.Ala1170ProfsTer?)
c.3484_3491del (p.Ala1162ProfsTer?)
c.3481_3488del (p.Ala1161ProfsTer?)
c.3409_3416del (p.Ala1137ProfsTer?)
c.3394_3401del (p.Ala1132ProfsTer?)
c.3319_3326del (p.Ala1107ProfsTer?)
 gnomAD v4
1g.16986232G>ACA338231921ATP13A2c.3532C>T (p.Pro1178Ser)
c.3230C>T (p.Pro1077Leu)
c.3517C>T (p.Pro1173Ser)
n.1578C>T
c.950C>T (p.Pro317Leu)
c.3362C>T (p.Pro1121Leu)
c.3359C>T (p.Pro1120Leu)
c.3347C>T (p.Pro1116Leu)
c.3335C>T (p.Pro1112Leu)
c.3302C>T (p.Pro1101Leu)
c.3245C>T (p.Pro1082Leu)
c.3344C>T (p.Pro1115Leu)
c.3320C>T (p.Pro1107Leu)
c.3155C>T (p.Pro1052Leu)
c.3514C>T (p.Pro1172Ser)
c.3490C>T (p.Pro1164Ser)
c.3487C>T (p.Pro1163Ser)
c.3415C>T (p.Pro1139Ser)
c.3400C>T (p.Pro1134Ser)
c.3325C>T (p.Pro1109Ser)
1g.16986232G>CCA338231924ATP13A2c.3532C>G (p.Pro1178Ala)
c.3230C>G (p.Pro1077Arg)
c.3517C>G (p.Pro1173Ala)
n.1578C>G
c.950C>G (p.Pro317Arg)
c.3362C>G (p.Pro1121Arg)
c.3359C>G (p.Pro1120Arg)
c.3347C>G (p.Pro1116Arg)
c.3335C>G (p.Pro1112Arg)
c.3302C>G (p.Pro1101Arg)
c.3245C>G (p.Pro1082Arg)
c.3344C>G (p.Pro1115Arg)
c.3320C>G (p.Pro1107Arg)
c.3155C>G (p.Pro1052Arg)
c.3514C>G (p.Pro1172Ala)
c.3490C>G (p.Pro1164Ala)
c.3487C>G (p.Pro1163Ala)
c.3415C>G (p.Pro1139Ala)
c.3400C>G (p.Pro1134Ala)
c.3325C>G (p.Pro1109Ala)
1g.16986232G>TCA338231929ATP13A2c.3532C>A (p.Pro1178Thr)
c.3230C>A (p.Pro1077His)
c.3517C>A (p.Pro1173Thr)
n.1578C>A
c.950C>A (p.Pro317His)
c.3362C>A (p.Pro1121His)
c.3359C>A (p.Pro1120His)
c.3347C>A (p.Pro1116His)
c.3335C>A (p.Pro1112His)
c.3302C>A (p.Pro1101His)
c.3245C>A (p.Pro1082His)
c.3344C>A (p.Pro1115His)
c.3320C>A (p.Pro1107His)
c.3155C>A (p.Pro1052His)
c.3514C>A (p.Pro1172Thr)
c.3490C>A (p.Pro1164Thr)
c.3487C>A (p.Pro1163Thr)
c.3415C>A (p.Pro1139Thr)
c.3400C>A (p.Pro1134Thr)
c.3325C>A (p.Pro1109Thr)
 gnomAD v4
1g.16986233G>ACA338231931ATP13A2c.3531C>T (p.Gly1177=)
c.3229C>T (p.Pro1077Ser)
c.3516C>T (p.Gly1172=)
n.1577C>T
c.949C>T (p.Pro317Ser)
c.3361C>T (p.Pro1121Ser)
c.3358C>T (p.Pro1120Ser)
c.3346C>T (p.Pro1116Ser)
c.3334C>T (p.Pro1112Ser)
c.3301C>T (p.Pro1101Ser)
c.3244C>T (p.Pro1082Ser)
c.3343C>T (p.Pro1115Ser)
c.3319C>T (p.Pro1107Ser)
c.3154C>T (p.Pro1052Ser)
c.3513C>T (p.Gly1171=)
c.3489C>T (p.Gly1163=)
c.3486C>T (p.Gly1162=)
c.3414C>T (p.Gly1138=)
c.3399C>T (p.Gly1133=)
c.3324C>T (p.Gly1108=)
 dbSNP gnomAD v2 gnomAD v4
1g.16986233G>CCA338231938ATP13A2c.3531C>G (p.Gly1177=)
c.3229C>G (p.Pro1077Ala)
c.3516C>G (p.Gly1172=)
n.1577C>G
c.949C>G (p.Pro317Ala)
c.3361C>G (p.Pro1121Ala)
c.3358C>G (p.Pro1120Ala)
c.3346C>G (p.Pro1116Ala)
c.3334C>G (p.Pro1112Ala)
c.3301C>G (p.Pro1101Ala)
c.3244C>G (p.Pro1082Ala)
c.3343C>G (p.Pro1115Ala)
c.3319C>G (p.Pro1107Ala)
c.3154C>G (p.Pro1052Ala)
c.3513C>G (p.Gly1171=)
c.3489C>G (p.Gly1163=)
c.3486C>G (p.Gly1162=)
c.3414C>G (p.Gly1138=)
c.3399C>G (p.Gly1133=)
c.3324C>G (p.Gly1108=)
 gnomAD v4
1g.16986233G=CA1156049256ATP13A2c.3531C= (p.Gly1177=)
c.3229C= (p.Pro1077=)
c.3516C= (p.Gly1172=)
n.1577C=
c.949C= (p.Pro317=)
c.3361C= (p.Pro1121=)
c.3358C= (p.Pro1120=)
c.3346C= (p.Pro1116=)
c.3334C= (p.Pro1112=)
c.3301C= (p.Pro1101=)
c.3244C= (p.Pro1082=)
c.3343C= (p.Pro1115=)
c.3319C= (p.Pro1107=)
c.3154C= (p.Pro1052=)
c.3513C= (p.Gly1171=)
c.3489C= (p.Gly1163=)
c.3486C= (p.Gly1162=)
c.3414C= (p.Gly1138=)
c.3399C= (p.Gly1133=)
c.3324C= (p.Gly1108=)
1g.16986233G>TCA338231944ATP13A2c.3531C>A (p.Gly1177=)
c.3229C>A (p.Pro1077Thr)
c.3516C>A (p.Gly1172=)
n.1577C>A
c.949C>A (p.Pro317Thr)
c.3361C>A (p.Pro1121Thr)
c.3358C>A (p.Pro1120Thr)
c.3346C>A (p.Pro1116Thr)
c.3334C>A (p.Pro1112Thr)
c.3301C>A (p.Pro1101Thr)
c.3244C>A (p.Pro1082Thr)
c.3343C>A (p.Pro1115Thr)
c.3319C>A (p.Pro1107Thr)
c.3154C>A (p.Pro1052Thr)
c.3513C>A (p.Gly1171=)
c.3489C>A (p.Gly1163=)
c.3486C>A (p.Gly1162=)
c.3414C>A (p.Gly1138=)
c.3399C>A (p.Gly1133=)
c.3324C>A (p.Gly1108=)
 dbSNP gnomAD v4
1g.16986234C>ACA338231948ATP13A2c.3530G>T (p.Gly1177Val)
c.3228G>T (p.Arg1076=)
c.3515G>T (p.Gly1172Val)
n.1576G>T
c.948G>T (p.Arg316=)
c.3360G>T (p.Arg1120=)
c.3357G>T (p.Arg1119=)
c.3345G>T (p.Arg1115=)
c.3333G>T (p.Arg1111=)
c.3300G>T (p.Arg1100=)
c.3243G>T (p.Arg1081=)
c.3342G>T (p.Arg1114=)
c.3318G>T (p.Arg1106=)
c.3153G>T (p.Arg1051=)
c.3512G>T (p.Gly1171Val)
c.3488G>T (p.Gly1163Val)
c.3485G>T (p.Gly1162Val)
c.3413G>T (p.Gly1138Val)
c.3398G>T (p.Gly1133Val)
c.3323G>T (p.Gly1108Val)
 dbSNP
1g.16986234C=CA1156049263ATP13A2c.3530G= (p.Gly1177=)
c.3228G= (p.Arg1076=)
c.3515G= (p.Gly1172=)
n.1576G=
c.948G= (p.Arg316=)
c.3360G= (p.Arg1120=)
c.3357G= (p.Arg1119=)
c.3345G= (p.Arg1115=)
c.3333G= (p.Arg1111=)
c.3300G= (p.Arg1100=)
c.3243G= (p.Arg1081=)
c.3342G= (p.Arg1114=)
c.3318G= (p.Arg1106=)
c.3153G= (p.Arg1051=)
c.3512G= (p.Gly1171=)
c.3488G= (p.Gly1163=)
c.3485G= (p.Gly1162=)
c.3413G= (p.Gly1138=)
c.3398G= (p.Gly1133=)
c.3323G= (p.Gly1108=)
1g.16986234C>GCA338231955ATP13A2c.3530G>C (p.Gly1177Ala)
c.3228G>C (p.Arg1076=)
c.3515G>C (p.Gly1172Ala)
n.1576G>C
c.948G>C (p.Arg316=)
c.3360G>C (p.Arg1120=)
c.3357G>C (p.Arg1119=)
c.3345G>C (p.Arg1115=)
c.3333G>C (p.Arg1111=)
c.3300G>C (p.Arg1100=)
c.3243G>C (p.Arg1081=)
c.3342G>C (p.Arg1114=)
c.3318G>C (p.Arg1106=)
c.3153G>C (p.Arg1051=)
c.3512G>C (p.Gly1171Ala)
c.3488G>C (p.Gly1163Ala)
c.3485G>C (p.Gly1162Ala)
c.3413G>C (p.Gly1138Ala)
c.3398G>C (p.Gly1133Ala)
c.3323G>C (p.Gly1108Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.16986234C>TCA338231958ATP13A2c.3530G>A (p.Gly1177Asp)
c.3228G>A (p.Arg1076=)
c.3515G>A (p.Gly1172Asp)
n.1576G>A
c.948G>A (p.Arg316=)
c.3360G>A (p.Arg1120=)
c.3357G>A (p.Arg1119=)
c.3345G>A (p.Arg1115=)
c.3333G>A (p.Arg1111=)
c.3300G>A (p.Arg1100=)
c.3243G>A (p.Arg1081=)
c.3342G>A (p.Arg1114=)
c.3318G>A (p.Arg1106=)
c.3153G>A (p.Arg1051=)
c.3512G>A (p.Gly1171Asp)
c.3488G>A (p.Gly1163Asp)
c.3485G>A (p.Gly1162Asp)
c.3413G>A (p.Gly1138Asp)
c.3398G>A (p.Gly1133Asp)
c.3323G>A (p.Gly1108Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.16986235C>ACA338231970ATP13A2c.3529G>T (p.Gly1177Cys)
c.3227G>T (p.Arg1076Leu)
c.3514G>T (p.Gly1172Cys)
n.1575G>T
c.947G>T (p.Arg316Leu)
c.3359G>T (p.Arg1120Leu)
c.3356G>T (p.Arg1119Leu)
c.3344G>T (p.Arg1115Leu)
c.3332G>T (p.Arg1111Leu)
c.3299G>T (p.Arg1100Leu)
c.3242G>T (p.Arg1081Leu)
c.3341G>T (p.Arg1114Leu)
c.3317G>T (p.Arg1106Leu)
c.3152G>T (p.Arg1051Leu)
c.3511G>T (p.Gly1171Cys)
c.3487G>T (p.Gly1163Cys)
c.3484G>T (p.Gly1162Cys)
c.3412G>T (p.Gly1138Cys)
c.3397G>T (p.Gly1133Cys)
c.3322G>T (p.Gly1108Cys)
 dbSNP gnomAD v3 gnomAD v4
1g.16986235C=CA1145805579ATP13A2c.3529G= (p.Gly1177=)
c.3227G= (p.Arg1076=)
c.3514G= (p.Gly1172=)
n.1575G=
c.947G= (p.Arg316=)
c.3359G= (p.Arg1120=)
c.3356G= (p.Arg1119=)
c.3344G= (p.Arg1115=)
c.3332G= (p.Arg1111=)
c.3299G= (p.Arg1100=)
c.3242G= (p.Arg1081=)
c.3341G= (p.Arg1114=)
c.3317G= (p.Arg1106=)
c.3152G= (p.Arg1051=)
c.3511G= (p.Gly1171=)
c.3487G= (p.Gly1163=)
c.3484G= (p.Gly1162=)
c.3412G= (p.Gly1138=)
c.3397G= (p.Gly1133=)
c.3322G= (p.Gly1108=)
1g.16986235C>GCA338231966ATP13A2c.3529G>C (p.Gly1177Arg)
c.3227G>C (p.Arg1076Pro)
c.3514G>C (p.Gly1172Arg)
n.1575G>C
c.947G>C (p.Arg316Pro)
c.3359G>C (p.Arg1120Pro)
c.3356G>C (p.Arg1119Pro)
c.3344G>C (p.Arg1115Pro)
c.3332G>C (p.Arg1111Pro)
c.3299G>C (p.Arg1100Pro)
c.3242G>C (p.Arg1081Pro)
c.3341G>C (p.Arg1114Pro)
c.3317G>C (p.Arg1106Pro)
c.3152G>C (p.Arg1051Pro)
c.3511G>C (p.Gly1171Arg)
c.3487G>C (p.Gly1163Arg)
c.3484G>C (p.Gly1162Arg)
c.3412G>C (p.Gly1138Arg)
c.3397G>C (p.Gly1133Arg)
c.3322G>C (p.Gly1108Arg)
1g.16986235C>TCA636456ATP13A2c.3529G>A (p.Gly1177Ser)
c.3227G>A (p.Arg1076Gln)
c.3514G>A (p.Gly1172Ser)
n.1575G>A
c.947G>A (p.Arg316Gln)
c.3359G>A (p.Arg1120Gln)
c.3356G>A (p.Arg1119Gln)
c.3344G>A (p.Arg1115Gln)
c.3332G>A (p.Arg1111Gln)
c.3299G>A (p.Arg1100Gln)
c.3242G>A (p.Arg1081Gln)
c.3341G>A (p.Arg1114Gln)
c.3317G>A (p.Arg1106Gln)
c.3152G>A (p.Arg1051Gln)
c.3511G>A (p.Gly1171Ser)
c.3487G>A (p.Gly1163Ser)
c.3484G>A (p.Gly1162Ser)
c.3412G>A (p.Gly1138Ser)
c.3397G>A (p.Gly1133Ser)
c.3322G>A (p.Gly1108Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.16986241_16986250dupCA2643668286ATP13A2c.3520_3529dup (p.Gly1177AlafsTer?)
c.3218_3227dup (p.Pro1077CysfsTer6)
c.3505_3514dup (p.Gly1172AlafsTer?)
n.1566_1575dup
c.938_947dup (p.Pro317CysfsTer6)
c.3350_3359dup (p.Pro1121CysfsTer6)
c.3347_3356dup (p.Pro1120CysfsTer6)
c.3335_3344dup (p.Pro1116CysfsTer6)
c.3323_3332dup (p.Pro1112CysfsTer6)
c.3290_3299dup (p.Pro1101CysfsTer6)
c.3233_3242dup (p.Pro1082CysfsTer6)
c.3332_3341dup (p.Pro1115CysfsTer6)
c.3308_3317dup (p.Pro1107CysfsTer6)
c.3143_3152dup (p.Pro1052CysfsTer6)
c.3502_3511dup (p.Gly1171AlafsTer?)
c.3478_3487dup (p.Gly1163AlafsTer?)
c.3475_3484dup (p.Gly1162AlafsTer?)
c.3403_3412dup (p.Gly1138AlafsTer?)
c.3388_3397dup (p.Gly1133AlafsTer?)
c.3313_3322dup (p.Gly1108AlafsTer?)
 gnomAD v4
1g.16986236G>ACA636457ATP13A2c.3528C>T (p.Ala1176=)
c.3226C>T (p.Arg1076Trp)
c.3513C>T (p.Ala1171=)
n.1574C>T
c.946C>T (p.Arg316Trp)
c.3358C>T (p.Arg1120Trp)
c.3355C>T (p.Arg1119Trp)
c.3343C>T (p.Arg1115Trp)
c.3331C>T (p.Arg1111Trp)
c.3298C>T (p.Arg1100Trp)
c.3241C>T (p.Arg1081Trp)
c.3340C>T (p.Arg1114Trp)
c.3316C>T (p.Arg1106Trp)
c.3151C>T (p.Arg1051Trp)
c.3510C>T (p.Ala1170=)
c.3486C>T (p.Ala1162=)
c.3483C>T (p.Ala1161=)
c.3411C>T (p.Ala1137=)
c.3396C>T (p.Ala1132=)
c.3321C>T (p.Ala1107=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986236G>CCA636458ATP13A2c.3528C>G (p.Ala1176=)
c.3226C>G (p.Arg1076Gly)
c.3513C>G (p.Ala1171=)
n.1574C>G
c.946C>G (p.Arg316Gly)
c.3358C>G (p.Arg1120Gly)
c.3355C>G (p.Arg1119Gly)
c.3343C>G (p.Arg1115Gly)
c.3331C>G (p.Arg1111Gly)
c.3298C>G (p.Arg1100Gly)
c.3241C>G (p.Arg1081Gly)
c.3340C>G (p.Arg1114Gly)
c.3316C>G (p.Arg1106Gly)
c.3151C>G (p.Arg1051Gly)
c.3510C>G (p.Ala1170=)
c.3486C>G (p.Ala1162=)
c.3483C>G (p.Ala1161=)
c.3411C>G (p.Ala1137=)
c.3396C>G (p.Ala1132=)
c.3321C>G (p.Ala1107=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.16986236G=CA1156049282ATP13A2c.3528C= (p.Ala1176=)
c.3226C= (p.Arg1076=)
c.3513C= (p.Ala1171=)
n.1574C=
c.946C= (p.Arg316=)
c.3358C= (p.Arg1120=)
c.3355C= (p.Arg1119=)
c.3343C= (p.Arg1115=)
c.3331C= (p.Arg1111=)
c.3298C= (p.Arg1100=)
c.3241C= (p.Arg1081=)
c.3340C= (p.Arg1114=)
c.3316C= (p.Arg1106=)
c.3151C= (p.Arg1051=)
c.3510C= (p.Ala1170=)
c.3486C= (p.Ala1162=)
c.3483C= (p.Ala1161=)
c.3411C= (p.Ala1137=)
c.3396C= (p.Ala1132=)
c.3321C= (p.Ala1107=)
1g.16986236G>TCA416093451ATP13A2c.3528C>A (p.Ala1176=)
c.3226C>A (p.Arg1076=)
c.3513C>A (p.Ala1171=)
n.1574C>A
c.946C>A (p.Arg316=)
c.3358C>A (p.Arg1120=)
c.3355C>A (p.Arg1119=)
c.3343C>A (p.Arg1115=)
c.3331C>A (p.Arg1111=)
c.3298C>A (p.Arg1100=)
c.3241C>A (p.Arg1081=)
c.3340C>A (p.Arg1114=)
c.3316C>A (p.Arg1106=)
c.3151C>A (p.Arg1051=)
c.3510C>A (p.Ala1170=)
c.3486C>A (p.Ala1162=)
c.3483C>A (p.Ala1161=)
c.3411C>A (p.Ala1137=)
c.3396C>A (p.Ala1132=)
c.3321C>A (p.Ala1107=)
 gnomAD v4
1g.16986237G>ACA338231973ATP13A2c.3527C>T (p.Ala1176Val)
c.3225C>T (p.Arg1075=)
c.3512C>T (p.Ala1171Val)
n.1573C>T
c.945C>T (p.Arg315=)
c.3357C>T (p.Arg1119=)
c.3354C>T (p.Arg1118=)
c.3342C>T (p.Arg1114=)
c.3330C>T (p.Arg1110=)
c.3297C>T (p.Arg1099=)
c.3240C>T (p.Arg1080=)
c.3339C>T (p.Arg1113=)
c.3315C>T (p.Arg1105=)
c.3150C>T (p.Arg1050=)
c.3509C>T (p.Ala1170Val)
c.3485C>T (p.Ala1162Val)
c.3482C>T (p.Ala1161Val)
c.3410C>T (p.Ala1137Val)
c.3395C>T (p.Ala1132Val)
c.3320C>T (p.Ala1107Val)
1g.16986237G>CCA338231974ATP13A2c.3527C>G (p.Ala1176Gly)
c.3225C>G (p.Arg1075=)
c.3512C>G (p.Ala1171Gly)
n.1573C>G
c.945C>G (p.Arg315=)
c.3357C>G (p.Arg1119=)
c.3354C>G (p.Arg1118=)
c.3342C>G (p.Arg1114=)
c.3330C>G (p.Arg1110=)
c.3297C>G (p.Arg1099=)
c.3240C>G (p.Arg1080=)
c.3339C>G (p.Arg1113=)
c.3315C>G (p.Arg1105=)
c.3150C>G (p.Arg1050=)
c.3509C>G (p.Ala1170Gly)
c.3485C>G (p.Ala1162Gly)
c.3482C>G (p.Ala1161Gly)
c.3410C>G (p.Ala1137Gly)
c.3395C>G (p.Ala1132Gly)
c.3320C>G (p.Ala1107Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.16986237G=CA1156049290ATP13A2c.3527C= (p.Ala1176=)
c.3225C= (p.Arg1075=)
c.3512C= (p.Ala1171=)
n.1573C=
c.945C= (p.Arg315=)
c.3357C= (p.Arg1119=)
c.3354C= (p.Arg1118=)
c.3342C= (p.Arg1114=)
c.3330C= (p.Arg1110=)
c.3297C= (p.Arg1099=)
c.3240C= (p.Arg1080=)
c.3339C= (p.Arg1113=)
c.3315C= (p.Arg1105=)
c.3150C= (p.Arg1050=)
c.3509C= (p.Ala1170=)
c.3485C= (p.Ala1162=)
c.3482C= (p.Ala1161=)
c.3410C= (p.Ala1137=)
c.3395C= (p.Ala1132=)
c.3320C= (p.Ala1107=)
1g.16986237G>TCA338231975ATP13A2c.3527C>A (p.Ala1176Asp)
c.3225C>A (p.Arg1075=)
c.3512C>A (p.Ala1171Asp)
n.1573C>A
c.945C>A (p.Arg315=)
c.3357C>A (p.Arg1119=)
c.3354C>A (p.Arg1118=)
c.3342C>A (p.Arg1114=)
c.3330C>A (p.Arg1110=)
c.3297C>A (p.Arg1099=)
c.3240C>A (p.Arg1080=)
c.3339C>A (p.Arg1113=)
c.3315C>A (p.Arg1105=)
c.3150C>A (p.Arg1050=)
c.3509C>A (p.Ala1170Asp)
c.3485C>A (p.Ala1162Asp)
c.3482C>A (p.Ala1161Asp)
c.3410C>A (p.Ala1137Asp)
c.3395C>A (p.Ala1132Asp)
c.3320C>A (p.Ala1107Asp)
1g.16986238C>ACA338231976ATP13A2c.3526G>T (p.Ala1176Ser)
c.3224G>T (p.Arg1075Leu)
c.3511G>T (p.Ala1171Ser)
n.1572G>T
c.944G>T (p.Arg315Leu)
c.3356G>T (p.Arg1119Leu)
c.3353G>T (p.Arg1118Leu)
c.3341G>T (p.Arg1114Leu)
c.3329G>T (p.Arg1110Leu)
c.3296G>T (p.Arg1099Leu)
c.3239G>T (p.Arg1080Leu)
c.3338G>T (p.Arg1113Leu)
c.3314G>T (p.Arg1105Leu)
c.3149G>T (p.Arg1050Leu)
c.3508G>T (p.Ala1170Ser)
c.3484G>T (p.Ala1162Ser)
c.3481G>T (p.Ala1161Ser)
c.3409G>T (p.Ala1137Ser)
c.3394G>T (p.Ala1132Ser)
c.3319G>T (p.Ala1107Ser)
1g.16986238C=CA1156049295ATP13A2c.3526G= (p.Ala1176=)
c.3224G= (p.Arg1075=)
c.3511G= (p.Ala1171=)
n.1572G=
c.944G= (p.Arg315=)
c.3356G= (p.Arg1119=)
c.3353G= (p.Arg1118=)
c.3341G= (p.Arg1114=)
c.3329G= (p.Arg1110=)
c.3296G= (p.Arg1099=)
c.3239G= (p.Arg1080=)
c.3338G= (p.Arg1113=)
c.3314G= (p.Arg1105=)
c.3149G= (p.Arg1050=)
c.3508G= (p.Ala1170=)
c.3484G= (p.Ala1162=)
c.3481G= (p.Ala1161=)
c.3409G= (p.Ala1137=)
c.3394G= (p.Ala1132=)
c.3319G= (p.Ala1107=)
1g.16986238C>GCA338231977ATP13A2c.3526G>C (p.Ala1176Pro)
c.3224G>C (p.Arg1075Pro)
c.3511G>C (p.Ala1171Pro)
n.1572G>C
c.944G>C (p.Arg315Pro)
c.3356G>C (p.Arg1119Pro)
c.3353G>C (p.Arg1118Pro)
c.3341G>C (p.Arg1114Pro)
c.3329G>C (p.Arg1110Pro)
c.3296G>C (p.Arg1099Pro)
c.3239G>C (p.Arg1080Pro)
c.3338G>C (p.Arg1113Pro)
c.3314G>C (p.Arg1105Pro)
c.3149G>C (p.Arg1050Pro)
c.3508G>C (p.Ala1170Pro)
c.3484G>C (p.Ala1162Pro)
c.3481G>C (p.Ala1161Pro)
c.3409G>C (p.Ala1137Pro)
c.3394G>C (p.Ala1132Pro)
c.3319G>C (p.Ala1107Pro)
 gnomAD v4
1g.16986238C>TCA338231980ATP13A2c.3526G>A (p.Ala1176Thr)
c.3224G>A (p.Arg1075His)
c.3511G>A (p.Ala1171Thr)
n.1572G>A
c.944G>A (p.Arg315His)
c.3356G>A (p.Arg1119His)
c.3353G>A (p.Arg1118His)
c.3341G>A (p.Arg1114His)
c.3329G>A (p.Arg1110His)
c.3296G>A (p.Arg1099His)
c.3239G>A (p.Arg1080His)
c.3338G>A (p.Arg1113His)
c.3314G>A (p.Arg1105His)
c.3149G>A (p.Arg1050His)
c.3508G>A (p.Ala1170Thr)
c.3484G>A (p.Ala1162Thr)
c.3481G>A (p.Ala1161Thr)
c.3409G>A (p.Ala1137Thr)
c.3394G>A (p.Ala1132Thr)
c.3319G>A (p.Ala1107Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.16986239G>ACA636459ATP13A2c.3525C>T (p.Pro1175=)
c.3223C>T (p.Arg1075Cys)
c.3510C>T (p.Pro1170=)
n.1571C>T
c.943C>T (p.Arg315Cys)
c.3355C>T (p.Arg1119Cys)
c.3352C>T (p.Arg1118Cys)
c.3340C>T (p.Arg1114Cys)
c.3328C>T (p.Arg1110Cys)
c.3295C>T (p.Arg1099Cys)
c.3238C>T (p.Arg1080Cys)
c.3337C>T (p.Arg1113Cys)
c.3313C>T (p.Arg1105Cys)
c.3148C>T (p.Arg1050Cys)
c.3507C>T (p.Pro1169=)
c.3483C>T (p.Pro1161=)
c.3480C>T (p.Pro1160=)
c.3408C>T (p.Pro1136=)
c.3393C>T (p.Pro1131=)
c.3318C>T (p.Pro1106=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986239G>CCA338231987ATP13A2c.3525C>G (p.Pro1175=)
c.3223C>G (p.Arg1075Gly)
c.3510C>G (p.Pro1170=)
n.1571C>G
c.943C>G (p.Arg315Gly)
c.3355C>G (p.Arg1119Gly)
c.3352C>G (p.Arg1118Gly)
c.3340C>G (p.Arg1114Gly)
c.3328C>G (p.Arg1110Gly)
c.3295C>G (p.Arg1099Gly)
c.3238C>G (p.Arg1080Gly)
c.3337C>G (p.Arg1113Gly)
c.3313C>G (p.Arg1105Gly)
c.3148C>G (p.Arg1050Gly)
c.3507C>G (p.Pro1169=)
c.3483C>G (p.Pro1161=)
c.3480C>G (p.Pro1160=)
c.3408C>G (p.Pro1136=)
c.3393C>G (p.Pro1131=)
c.3318C>G (p.Pro1106=)
 gnomAD v4
1g.16986239G=CA1156049300ATP13A2c.3525C= (p.Pro1175=)
c.3223C= (p.Arg1075=)
c.3510C= (p.Pro1170=)
n.1571C=
c.943C= (p.Arg315=)
c.3355C= (p.Arg1119=)
c.3352C= (p.Arg1118=)
c.3340C= (p.Arg1114=)
c.3328C= (p.Arg1110=)
c.3295C= (p.Arg1099=)
c.3238C= (p.Arg1080=)
c.3337C= (p.Arg1113=)
c.3313C= (p.Arg1105=)
c.3148C= (p.Arg1050=)
c.3507C= (p.Pro1169=)
c.3483C= (p.Pro1161=)
c.3480C= (p.Pro1160=)
c.3408C= (p.Pro1136=)
c.3393C= (p.Pro1131=)
c.3318C= (p.Pro1106=)
1g.16986239G>TCA338231990ATP13A2c.3525C>A (p.Pro1175=)
c.3223C>A (p.Arg1075Ser)
c.3510C>A (p.Pro1170=)
n.1571C>A
c.943C>A (p.Arg315Ser)
c.3355C>A (p.Arg1119Ser)
c.3352C>A (p.Arg1118Ser)
c.3340C>A (p.Arg1114Ser)
c.3328C>A (p.Arg1110Ser)
c.3295C>A (p.Arg1099Ser)
c.3238C>A (p.Arg1080Ser)
c.3337C>A (p.Arg1113Ser)
c.3313C>A (p.Arg1105Ser)
c.3148C>A (p.Arg1050Ser)
c.3507C>A (p.Pro1169=)
c.3483C>A (p.Pro1161=)
c.3480C>A (p.Pro1160=)
c.3408C>A (p.Pro1136=)
c.3393C>A (p.Pro1131=)
c.3318C>A (p.Pro1106=)
1g.16986240_16986241insAAGGCA2643668319ATP13A2c.3525_3526insTTCC (p.Ala1176PhefsTer?)
c.3223_3224insTTCC (p.Arg1075LeufsTer6)
c.3510_3511insTTCC (p.Ala1171PhefsTer?)
n.1571_1572insTTCC
c.943_944insTTCC (p.Arg315LeufsTer6)
c.3355_3356insTTCC (p.Arg1119LeufsTer6)
c.3352_3353insTTCC (p.Arg1118LeufsTer6)
c.3340_3341insTTCC (p.Arg1114LeufsTer6)
c.3328_3329insTTCC (p.Arg1110LeufsTer6)
c.3295_3296insTTCC (p.Arg1099LeufsTer6)
c.3238_3239insTTCC (p.Arg1080LeufsTer6)
c.3337_3338insTTCC (p.Arg1113LeufsTer6)
c.3313_3314insTTCC (p.Arg1105LeufsTer6)
c.3148_3149insTTCC (p.Arg1050LeufsTer6)
c.3507_3508insTTCC (p.Ala1170PhefsTer?)
c.3483_3484insTTCC (p.Ala1162PhefsTer?)
c.3480_3481insTTCC (p.Ala1161PhefsTer?)
c.3408_3409insTTCC (p.Ala1137PhefsTer?)
c.3393_3394insTTCC (p.Ala1132PhefsTer?)
c.3318_3319insTTCC (p.Ala1107PhefsTer?)
 gnomAD v4
1g.16986240G>ACA338231995ATP13A2c.3524C>T (p.Pro1175Leu)
c.3222C>T (p.Ala1074=)
c.3509C>T (p.Pro1170Leu)
n.1570C>T
c.942C>T (p.Ala314=)
c.3354C>T (p.Ala1118=)
c.3351C>T (p.Ala1117=)
c.3339C>T (p.Ala1113=)
c.3327C>T (p.Ala1109=)
c.3294C>T (p.Ala1098=)
c.3237C>T (p.Ala1079=)
c.3336C>T (p.Ala1112=)
c.3312C>T (p.Ala1104=)
c.3147C>T (p.Ala1049=)
c.3506C>T (p.Pro1169Leu)
c.3482C>T (p.Pro1161Leu)
c.3479C>T (p.Pro1160Leu)
c.3407C>T (p.Pro1136Leu)
c.3392C>T (p.Pro1131Leu)
c.3317C>T (p.Pro1106Leu)
1g.16986240G>CCA338231994ATP13A2c.3524C>G (p.Pro1175Arg)
c.3222C>G (p.Ala1074=)
c.3509C>G (p.Pro1170Arg)
n.1570C>G
c.942C>G (p.Ala314=)
c.3354C>G (p.Ala1118=)
c.3351C>G (p.Ala1117=)
c.3339C>G (p.Ala1113=)
c.3327C>G (p.Ala1109=)
c.3294C>G (p.Ala1098=)
c.3237C>G (p.Ala1079=)
c.3336C>G (p.Ala1112=)
c.3312C>G (p.Ala1104=)
c.3147C>G (p.Ala1049=)
c.3506C>G (p.Pro1169Arg)
c.3482C>G (p.Pro1161Arg)
c.3479C>G (p.Pro1160Arg)
c.3407C>G (p.Pro1136Arg)
c.3392C>G (p.Pro1131Arg)
c.3317C>G (p.Pro1106Arg)
1g.16986240G=CA1156049306ATP13A2c.3524C= (p.Pro1175=)
c.3222C= (p.Ala1074=)
c.3509C= (p.Pro1170=)
n.1570C=
c.942C= (p.Ala314=)
c.3354C= (p.Ala1118=)
c.3351C= (p.Ala1117=)
c.3339C= (p.Ala1113=)
c.3327C= (p.Ala1109=)
c.3294C= (p.Ala1098=)
c.3237C= (p.Ala1079=)
c.3336C= (p.Ala1112=)
c.3312C= (p.Ala1104=)
c.3147C= (p.Ala1049=)
c.3506C= (p.Pro1169=)
c.3482C= (p.Pro1161=)
c.3479C= (p.Pro1160=)
c.3407C= (p.Pro1136=)
c.3392C= (p.Pro1131=)
c.3317C= (p.Pro1106=)
1g.16986240G>TCA636460ATP13A2c.3524C>A (p.Pro1175His)
c.3222C>A (p.Ala1074=)
c.3509C>A (p.Pro1170His)
n.1570C>A
c.942C>A (p.Ala314=)
c.3354C>A (p.Ala1118=)
c.3351C>A (p.Ala1117=)
c.3339C>A (p.Ala1113=)
c.3327C>A (p.Ala1109=)
c.3294C>A (p.Ala1098=)
c.3237C>A (p.Ala1079=)
c.3336C>A (p.Ala1112=)
c.3312C>A (p.Ala1104=)
c.3147C>A (p.Ala1049=)
c.3506C>A (p.Pro1169His)
c.3482C>A (p.Pro1161His)
c.3479C>A (p.Pro1160His)
c.3407C>A (p.Pro1136His)
c.3392C>A (p.Pro1131His)
c.3317C>A (p.Pro1106His)
 dbSNP ExAC gnomAD v4
1g.16986241G>ACA338231996ATP13A2c.3523C>T (p.Pro1175Ser)
c.3221C>T (p.Ala1074Val)
c.3508C>T (p.Pro1170Ser)
n.1569C>T
c.941C>T (p.Ala314Val)
c.3353C>T (p.Ala1118Val)
c.3350C>T (p.Ala1117Val)
c.3338C>T (p.Ala1113Val)
c.3326C>T (p.Ala1109Val)
c.3293C>T (p.Ala1098Val)
c.3236C>T (p.Ala1079Val)
c.3335C>T (p.Ala1112Val)
c.3311C>T (p.Ala1104Val)
c.3146C>T (p.Ala1049Val)
c.3505C>T (p.Pro1169Ser)
c.3481C>T (p.Pro1161Ser)
c.3478C>T (p.Pro1160Ser)
c.3406C>T (p.Pro1136Ser)
c.3391C>T (p.Pro1131Ser)
c.3316C>T (p.Pro1106Ser)
1g.16986241G>CCA338231997ATP13A2c.3523C>G (p.Pro1175Ala)
c.3221C>G (p.Ala1074Gly)
c.3508C>G (p.Pro1170Ala)
n.1569C>G
c.941C>G (p.Ala314Gly)
c.3353C>G (p.Ala1118Gly)
c.3350C>G (p.Ala1117Gly)
c.3338C>G (p.Ala1113Gly)
c.3326C>G (p.Ala1109Gly)
c.3293C>G (p.Ala1098Gly)
c.3236C>G (p.Ala1079Gly)
c.3335C>G (p.Ala1112Gly)
c.3311C>G (p.Ala1104Gly)
c.3146C>G (p.Ala1049Gly)
c.3505C>G (p.Pro1169Ala)
c.3481C>G (p.Pro1161Ala)
c.3478C>G (p.Pro1160Ala)
c.3406C>G (p.Pro1136Ala)
c.3391C>G (p.Pro1131Ala)
c.3316C>G (p.Pro1106Ala)
1g.16986241G>TCA338231998ATP13A2c.3523C>A (p.Pro1175Thr)
c.3221C>A (p.Ala1074Asp)
c.3508C>A (p.Pro1170Thr)
n.1569C>A
c.941C>A (p.Ala314Asp)
c.3353C>A (p.Ala1118Asp)
c.3350C>A (p.Ala1117Asp)
c.3338C>A (p.Ala1113Asp)
c.3326C>A (p.Ala1109Asp)
c.3293C>A (p.Ala1098Asp)
c.3236C>A (p.Ala1079Asp)
c.3335C>A (p.Ala1112Asp)
c.3311C>A (p.Ala1104Asp)
c.3146C>A (p.Ala1049Asp)
c.3505C>A (p.Pro1169Thr)
c.3481C>A (p.Pro1161Thr)
c.3478C>A (p.Pro1160Thr)
c.3406C>A (p.Pro1136Thr)
c.3391C>A (p.Pro1131Thr)
c.3316C>A (p.Pro1106Thr)
 gnomAD v4
1g.16986242C>ACA338232002ATP13A2c.3522G>T (p.Leu1174=)
c.3220G>T (p.Ala1074Ser)
c.3507G>T (p.Leu1169=)
n.1568G>T
c.940G>T (p.Ala314Ser)
c.3352G>T (p.Ala1118Ser)
c.3349G>T (p.Ala1117Ser)
c.3337G>T (p.Ala1113Ser)
c.3325G>T (p.Ala1109Ser)
c.3292G>T (p.Ala1098Ser)
c.3235G>T (p.Ala1079Ser)
c.3334G>T (p.Ala1112Ser)
c.3310G>T (p.Ala1104Ser)
c.3145G>T (p.Ala1049Ser)
c.3504G>T (p.Leu1168=)
c.3480G>T (p.Leu1160=)
c.3477G>T (p.Leu1159=)
c.3405G>T (p.Leu1135=)
c.3390G>T (p.Leu1130=)
c.3315G>T (p.Leu1105=)
 gnomAD v4
1g.16986242C>GCA338232004ATP13A2c.3522G>C (p.Leu1174=)
c.3220G>C (p.Ala1074Pro)
c.3507G>C (p.Leu1169=)
n.1568G>C
c.940G>C (p.Ala314Pro)
c.3352G>C (p.Ala1118Pro)
c.3349G>C (p.Ala1117Pro)
c.3337G>C (p.Ala1113Pro)
c.3325G>C (p.Ala1109Pro)
c.3292G>C (p.Ala1098Pro)
c.3235G>C (p.Ala1079Pro)
c.3334G>C (p.Ala1112Pro)
c.3310G>C (p.Ala1104Pro)
c.3145G>C (p.Ala1049Pro)
c.3504G>C (p.Leu1168=)
c.3480G>C (p.Leu1160=)
c.3477G>C (p.Leu1159=)
c.3405G>C (p.Leu1135=)
c.3390G>C (p.Leu1130=)
c.3315G>C (p.Leu1105=)
1g.16986242C>TCA338232007ATP13A2c.3522G>A (p.Leu1174=)
c.3220G>A (p.Ala1074Thr)
c.3507G>A (p.Leu1169=)
n.1568G>A
c.940G>A (p.Ala314Thr)
c.3352G>A (p.Ala1118Thr)
c.3349G>A (p.Ala1117Thr)
c.3337G>A (p.Ala1113Thr)
c.3325G>A (p.Ala1109Thr)
c.3292G>A (p.Ala1098Thr)
c.3235G>A (p.Ala1079Thr)
c.3334G>A (p.Ala1112Thr)
c.3310G>A (p.Ala1104Thr)
c.3145G>A (p.Ala1049Thr)
c.3504G>A (p.Leu1168=)
c.3480G>A (p.Leu1160=)
c.3477G>A (p.Leu1159=)
c.3405G>A (p.Leu1135=)
c.3390G>A (p.Leu1130=)
c.3315G>A (p.Leu1105=)
 gnomAD v4
1g.16986245_16986254dupCA2643668396ATP13A2c.3513_3522dup (p.Pro1175AlafsTer?)
c.3211_3220dup (p.Ala1074GlyfsTer9)
c.3498_3507dup (p.Pro1170AlafsTer?)
n.1559_1568dup
c.931_940dup (p.Ala314GlyfsTer9)
c.3343_3352dup (p.Ala1118GlyfsTer9)
c.3340_3349dup (p.Ala1117GlyfsTer9)
c.3328_3337dup (p.Ala1113GlyfsTer9)
c.3316_3325dup (p.Ala1109GlyfsTer9)
c.3283_3292dup (p.Ala1098GlyfsTer9)
c.3226_3235dup (p.Ala1079GlyfsTer9)
c.3325_3334dup (p.Ala1112GlyfsTer9)
c.3301_3310dup (p.Ala1104GlyfsTer9)
c.3136_3145dup (p.Ala1049GlyfsTer9)
c.3495_3504dup (p.Pro1169AlafsTer?)
c.3471_3480dup (p.Pro1161AlafsTer?)
c.3468_3477dup (p.Pro1160AlafsTer?)
c.3396_3405dup (p.Pro1136AlafsTer?)
c.3381_3390dup (p.Pro1131AlafsTer?)
c.3306_3315dup (p.Pro1106AlafsTer?)
 gnomAD v4
1g.16986242_16986243insGCCCCCTTGGCA2643668406ATP13A2c.3521_3522insCCAAGGGGGC (p.Pro1175GlnfsTer?)
c.3219_3220insCCAAGGGGGC (p.Ala1074ProfsTer9)
c.3506_3507insCCAAGGGGGC (p.Pro1170GlnfsTer?)
n.1567_1568insCCAAGGGGGC
c.939_940insCCAAGGGGGC (p.Ala314ProfsTer9)
c.3351_3352insCCAAGGGGGC (p.Ala1118ProfsTer9)
c.3348_3349insCCAAGGGGGC (p.Ala1117ProfsTer9)
c.3336_3337insCCAAGGGGGC (p.Ala1113ProfsTer9)
c.3324_3325insCCAAGGGGGC (p.Ala1109ProfsTer9)
c.3291_3292insCCAAGGGGGC (p.Ala1098ProfsTer9)
c.3234_3235insCCAAGGGGGC (p.Ala1079ProfsTer9)
c.3333_3334insCCAAGGGGGC (p.Ala1112ProfsTer9)
c.3309_3310insCCAAGGGGGC (p.Ala1104ProfsTer9)
c.3144_3145insCCAAGGGGGC (p.Ala1049ProfsTer9)
c.3503_3504insCCAAGGGGGC (p.Pro1169GlnfsTer?)
c.3479_3480insCCAAGGGGGC (p.Pro1161GlnfsTer?)
c.3476_3477insCCAAGGGGGC (p.Pro1160GlnfsTer?)
c.3404_3405insCCAAGGGGGC (p.Pro1136GlnfsTer?)
c.3389_3390insCCAAGGGGGC (p.Pro1131GlnfsTer?)
c.3314_3315insCCAAGGGGGC (p.Pro1106GlnfsTer?)
 gnomAD v4
1g.16986243A>CCA338232009ATP13A2c.3521T>G (p.Leu1174Arg)
c.3219T>G (p.Ala1073=)
c.3506T>G (p.Leu1169Arg)
n.1567T>G
c.939T>G (p.Ala313=)
c.3351T>G (p.Ala1117=)
c.3348T>G (p.Ala1116=)
c.3336T>G (p.Ala1112=)
c.3324T>G (p.Ala1108=)
c.3291T>G (p.Ala1097=)
c.3234T>G (p.Ala1078=)
c.3333T>G (p.Ala1111=)
c.3309T>G (p.Ala1103=)
c.3144T>G (p.Ala1048=)
c.3503T>G (p.Leu1168Arg)
c.3479T>G (p.Leu1160Arg)
c.3476T>G (p.Leu1159Arg)
c.3404T>G (p.Leu1135Arg)
c.3389T>G (p.Leu1130Arg)
c.3314T>G (p.Leu1105Arg)
1g.16986243A>GCA338232010ATP13A2c.3521T>C (p.Leu1174Pro)
c.3219T>C (p.Ala1073=)
c.3506T>C (p.Leu1169Pro)
n.1567T>C
c.939T>C (p.Ala313=)
c.3351T>C (p.Ala1117=)
c.3348T>C (p.Ala1116=)
c.3336T>C (p.Ala1112=)
c.3324T>C (p.Ala1108=)
c.3291T>C (p.Ala1097=)
c.3234T>C (p.Ala1078=)
c.3333T>C (p.Ala1111=)
c.3309T>C (p.Ala1103=)
c.3144T>C (p.Ala1048=)
c.3503T>C (p.Leu1168Pro)
c.3479T>C (p.Leu1160Pro)
c.3476T>C (p.Leu1159Pro)
c.3404T>C (p.Leu1135Pro)
c.3389T>C (p.Leu1130Pro)
c.3314T>C (p.Leu1105Pro)
1g.16986243A>TCA338232011ATP13A2c.3521T>A (p.Leu1174Gln)
c.3219T>A (p.Ala1073=)
c.3506T>A (p.Leu1169Gln)
n.1567T>A
c.939T>A (p.Ala313=)
c.3351T>A (p.Ala1117=)
c.3348T>A (p.Ala1116=)
c.3336T>A (p.Ala1112=)
c.3324T>A (p.Ala1108=)
c.3291T>A (p.Ala1097=)
c.3234T>A (p.Ala1078=)
c.3333T>A (p.Ala1111=)
c.3309T>A (p.Ala1103=)
c.3144T>A (p.Ala1048=)
c.3503T>A (p.Leu1168Gln)
c.3479T>A (p.Leu1160Gln)
c.3476T>A (p.Leu1159Gln)
c.3404T>A (p.Leu1135Gln)
c.3389T>A (p.Leu1130Gln)
c.3314T>A (p.Leu1105Gln)
1g.16986244G>ACA338232012ATP13A2c.3520C>T (p.Leu1174=)
c.3218C>T (p.Ala1073Val)
c.3505C>T (p.Leu1169=)
n.1566C>T
c.938C>T (p.Ala313Val)
c.3350C>T (p.Ala1117Val)
c.3347C>T (p.Ala1116Val)
c.3335C>T (p.Ala1112Val)
c.3323C>T (p.Ala1108Val)
c.3290C>T (p.Ala1097Val)
c.3233C>T (p.Ala1078Val)
c.3332C>T (p.Ala1111Val)
c.3308C>T (p.Ala1103Val)
c.3143C>T (p.Ala1048Val)
c.3502C>T (p.Leu1168=)
c.3478C>T (p.Leu1160=)
c.3475C>T (p.Leu1159=)
c.3403C>T (p.Leu1135=)
c.3388C>T (p.Leu1130=)
c.3313C>T (p.Leu1105=)
 gnomAD v4
1g.16986244G>CCA338232013ATP13A2c.3520C>G (p.Leu1174Val)
c.3218C>G (p.Ala1073Gly)
c.3505C>G (p.Leu1169Val)
n.1566C>G
c.938C>G (p.Ala313Gly)
c.3350C>G (p.Ala1117Gly)
c.3347C>G (p.Ala1116Gly)
c.3335C>G (p.Ala1112Gly)
c.3323C>G (p.Ala1108Gly)
c.3290C>G (p.Ala1097Gly)
c.3233C>G (p.Ala1078Gly)
c.3332C>G (p.Ala1111Gly)
c.3308C>G (p.Ala1103Gly)
c.3143C>G (p.Ala1048Gly)
c.3502C>G (p.Leu1168Val)
c.3478C>G (p.Leu1160Val)
c.3475C>G (p.Leu1159Val)
c.3403C>G (p.Leu1135Val)
c.3388C>G (p.Leu1130Val)
c.3313C>G (p.Leu1105Val)
1g.16986244G>TCA338232015ATP13A2c.3520C>A (p.Leu1174Met)
c.3218C>A (p.Ala1073Asp)
c.3505C>A (p.Leu1169Met)
n.1566C>A
c.938C>A (p.Ala313Asp)
c.3350C>A (p.Ala1117Asp)
c.3347C>A (p.Ala1116Asp)
c.3335C>A (p.Ala1112Asp)
c.3323C>A (p.Ala1108Asp)
c.3290C>A (p.Ala1097Asp)
c.3233C>A (p.Ala1078Asp)
c.3332C>A (p.Ala1111Asp)
c.3308C>A (p.Ala1103Asp)
c.3143C>A (p.Ala1048Asp)
c.3502C>A (p.Leu1168Met)
c.3478C>A (p.Leu1160Met)
c.3475C>A (p.Leu1159Met)
c.3403C>A (p.Leu1135Met)
c.3388C>A (p.Leu1130Met)
c.3313C>A (p.Leu1105Met)
1g.16986245C>ACA338232019ATP13A2c.3519G>T (p.Pro1173=)
c.3217G>T (p.Ala1073Ser)
c.3504G>T (p.Pro1168=)
n.1565G>T
c.937G>T (p.Ala313Ser)
c.3349G>T (p.Ala1117Ser)
c.3346G>T (p.Ala1116Ser)
c.3334G>T (p.Ala1112Ser)
c.3322G>T (p.Ala1108Ser)
c.3289G>T (p.Ala1097Ser)
c.3232G>T (p.Ala1078Ser)
c.3331G>T (p.Ala1111Ser)
c.3307G>T (p.Ala1103Ser)
c.3142G>T (p.Ala1048Ser)
c.3501G>T (p.Pro1167=)
c.3477G>T (p.Pro1159=)
c.3474G>T (p.Pro1158=)
c.3402G>T (p.Pro1134=)
c.3387G>T (p.Pro1129=)
c.3312G>T (p.Pro1104=)
 dbSNP
1g.16986245C=CA1156049310ATP13A2c.3519G= (p.Pro1173=)
c.3217G= (p.Ala1073=)
c.3504G= (p.Pro1168=)
n.1565G=
c.937G= (p.Ala313=)
c.3349G= (p.Ala1117=)
c.3346G= (p.Ala1116=)
c.3334G= (p.Ala1112=)
c.3322G= (p.Ala1108=)
c.3289G= (p.Ala1097=)
c.3232G= (p.Ala1078=)
c.3331G= (p.Ala1111=)
c.3307G= (p.Ala1103=)
c.3142G= (p.Ala1048=)
c.3501G= (p.Pro1167=)
c.3477G= (p.Pro1159=)
c.3474G= (p.Pro1158=)
c.3402G= (p.Pro1134=)
c.3387G= (p.Pro1129=)
c.3312G= (p.Pro1104=)
1g.16986245C>GCA338232024ATP13A2c.3519G>C (p.Pro1173=)
c.3217G>C (p.Ala1073Pro)
c.3504G>C (p.Pro1168=)
n.1565G>C
c.937G>C (p.Ala313Pro)
c.3349G>C (p.Ala1117Pro)
c.3346G>C (p.Ala1116Pro)
c.3334G>C (p.Ala1112Pro)
c.3322G>C (p.Ala1108Pro)
c.3289G>C (p.Ala1097Pro)
c.3232G>C (p.Ala1078Pro)
c.3331G>C (p.Ala1111Pro)
c.3307G>C (p.Ala1103Pro)
c.3142G>C (p.Ala1048Pro)
c.3501G>C (p.Pro1167=)
c.3477G>C (p.Pro1159=)
c.3474G>C (p.Pro1158=)
c.3402G>C (p.Pro1134=)
c.3387G>C (p.Pro1129=)
c.3312G>C (p.Pro1104=)
1g.16986245C>TCA636461ATP13A2c.3519G>A (p.Pro1173=)
c.3217G>A (p.Ala1073Thr)
c.3504G>A (p.Pro1168=)
n.1565G>A
c.937G>A (p.Ala313Thr)
c.3349G>A (p.Ala1117Thr)
c.3346G>A (p.Ala1116Thr)
c.3334G>A (p.Ala1112Thr)
c.3322G>A (p.Ala1108Thr)
c.3289G>A (p.Ala1097Thr)
c.3232G>A (p.Ala1078Thr)
c.3331G>A (p.Ala1111Thr)
c.3307G>A (p.Ala1103Thr)
c.3142G>A (p.Ala1048Thr)
c.3501G>A (p.Pro1167=)
c.3477G>A (p.Pro1159=)
c.3474G>A (p.Pro1158=)
c.3402G>A (p.Pro1134=)
c.3387G>A (p.Pro1129=)
c.3312G>A (p.Pro1104=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986246G>ACA636462ATP13A2c.3518C>T (p.Pro1173Leu)
c.3216C>T (p.Ala1072=)
c.3503C>T (p.Pro1168Leu)
n.1564C>T
c.936C>T (p.Ala312=)
c.3348C>T (p.Ala1116=)
c.3345C>T (p.Ala1115=)
c.3333C>T (p.Ala1111=)
c.3321C>T (p.Ala1107=)
c.3288C>T (p.Ala1096=)
c.3231C>T (p.Ala1077=)
c.3330C>T (p.Ala1110=)
c.3306C>T (p.Ala1102=)
c.3141C>T (p.Ala1047=)
c.3500C>T (p.Pro1167Leu)
c.3476C>T (p.Pro1159Leu)
c.3473C>T (p.Pro1158Leu)
c.3401C>T (p.Pro1134Leu)
c.3386C>T (p.Pro1129Leu)
c.3311C>T (p.Pro1104Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986246G>CCA338232038ATP13A2c.3518C>G (p.Pro1173Arg)
c.3216C>G (p.Ala1072=)
c.3503C>G (p.Pro1168Arg)
n.1564C>G
c.936C>G (p.Ala312=)
c.3348C>G (p.Ala1116=)
c.3345C>G (p.Ala1115=)
c.3333C>G (p.Ala1111=)
c.3321C>G (p.Ala1107=)
c.3288C>G (p.Ala1096=)
c.3231C>G (p.Ala1077=)
c.3330C>G (p.Ala1110=)
c.3306C>G (p.Ala1102=)
c.3141C>G (p.Ala1047=)
c.3500C>G (p.Pro1167Arg)
c.3476C>G (p.Pro1159Arg)
c.3473C>G (p.Pro1158Arg)
c.3401C>G (p.Pro1134Arg)
c.3386C>G (p.Pro1129Arg)
c.3311C>G (p.Pro1104Arg)
 dbSNP
1g.16986246G=CA1143898417ATP13A2c.3518C= (p.Pro1173=)
c.3216C= (p.Ala1072=)
c.3503C= (p.Pro1168=)
n.1564C=
c.936C= (p.Ala312=)
c.3348C= (p.Ala1116=)
c.3345C= (p.Ala1115=)
c.3333C= (p.Ala1111=)
c.3321C= (p.Ala1107=)
c.3288C= (p.Ala1096=)
c.3231C= (p.Ala1077=)
c.3330C= (p.Ala1110=)
c.3306C= (p.Ala1102=)
c.3141C= (p.Ala1047=)
c.3500C= (p.Pro1167=)
c.3476C= (p.Pro1159=)
c.3473C= (p.Pro1158=)
c.3401C= (p.Pro1134=)
c.3386C= (p.Pro1129=)
c.3311C= (p.Pro1104=)
1g.16986246G>TCA338232040ATP13A2c.3518C>A (p.Pro1173Gln)
c.3216C>A (p.Ala1072=)
c.3503C>A (p.Pro1168Gln)
n.1564C>A
c.936C>A (p.Ala312=)
c.3348C>A (p.Ala1116=)
c.3345C>A (p.Ala1115=)
c.3333C>A (p.Ala1111=)
c.3321C>A (p.Ala1107=)
c.3288C>A (p.Ala1096=)
c.3231C>A (p.Ala1077=)
c.3330C>A (p.Ala1110=)
c.3306C>A (p.Ala1102=)
c.3141C>A (p.Ala1047=)
c.3500C>A (p.Pro1167Gln)
c.3476C>A (p.Pro1159Gln)
c.3473C>A (p.Pro1158Gln)
c.3401C>A (p.Pro1134Gln)
c.3386C>A (p.Pro1129Gln)
c.3311C>A (p.Pro1104Gln)
 dbSNP gnomAD v4
1g.16986247G>ACA338232047ATP13A2c.3517C>T (p.Pro1173Ser)
c.3215C>T (p.Ala1072Val)
c.3502C>T (p.Pro1168Ser)
n.1563C>T
c.935C>T (p.Ala312Val)
c.3347C>T (p.Ala1116Val)
c.3344C>T (p.Ala1115Val)
c.3332C>T (p.Ala1111Val)
c.3320C>T (p.Ala1107Val)
c.3287C>T (p.Ala1096Val)
c.3230C>T (p.Ala1077Val)
c.3329C>T (p.Ala1110Val)
c.3305C>T (p.Ala1102Val)
c.3140C>T (p.Ala1047Val)
c.3499C>T (p.Pro1167Ser)
c.3475C>T (p.Pro1159Ser)
c.3472C>T (p.Pro1158Ser)
c.3400C>T (p.Pro1134Ser)
c.3385C>T (p.Pro1129Ser)
c.3310C>T (p.Pro1104Ser)
 COSMIC COSMIC
1g.16986247G>CCA338232048ATP13A2c.3517C>G (p.Pro1173Ala)
c.3215C>G (p.Ala1072Gly)
c.3502C>G (p.Pro1168Ala)
n.1563C>G
c.935C>G (p.Ala312Gly)
c.3347C>G (p.Ala1116Gly)
c.3344C>G (p.Ala1115Gly)
c.3332C>G (p.Ala1111Gly)
c.3320C>G (p.Ala1107Gly)
c.3287C>G (p.Ala1096Gly)
c.3230C>G (p.Ala1077Gly)
c.3329C>G (p.Ala1110Gly)
c.3305C>G (p.Ala1102Gly)
c.3140C>G (p.Ala1047Gly)
c.3499C>G (p.Pro1167Ala)
c.3475C>G (p.Pro1159Ala)
c.3472C>G (p.Pro1158Ala)
c.3400C>G (p.Pro1134Ala)
c.3385C>G (p.Pro1129Ala)
c.3310C>G (p.Pro1104Ala)
1g.16986247G=CA1156049321ATP13A2c.3517C= (p.Pro1173=)
c.3215C= (p.Ala1072=)
c.3502C= (p.Pro1168=)
n.1563C=
c.935C= (p.Ala312=)
c.3347C= (p.Ala1116=)
c.3344C= (p.Ala1115=)
c.3332C= (p.Ala1111=)
c.3320C= (p.Ala1107=)
c.3287C= (p.Ala1096=)
c.3230C= (p.Ala1077=)
c.3329C= (p.Ala1110=)
c.3305C= (p.Ala1102=)
c.3140C= (p.Ala1047=)
c.3499C= (p.Pro1167=)
c.3475C= (p.Pro1159=)
c.3472C= (p.Pro1158=)
c.3400C= (p.Pro1134=)
c.3385C= (p.Pro1129=)
c.3310C= (p.Pro1104=)
1g.16986247G>TCA338232050ATP13A2c.3517C>A (p.Pro1173Thr)
c.3215C>A (p.Ala1072Asp)
c.3502C>A (p.Pro1168Thr)
n.1563C>A
c.935C>A (p.Ala312Asp)
c.3347C>A (p.Ala1116Asp)
c.3344C>A (p.Ala1115Asp)
c.3332C>A (p.Ala1111Asp)
c.3320C>A (p.Ala1107Asp)
c.3287C>A (p.Ala1096Asp)
c.3230C>A (p.Ala1077Asp)
c.3329C>A (p.Ala1110Asp)
c.3305C>A (p.Ala1102Asp)
c.3140C>A (p.Ala1047Asp)
c.3499C>A (p.Pro1167Thr)
c.3475C>A (p.Pro1159Thr)
c.3472C>A (p.Pro1158Thr)
c.3400C>A (p.Pro1134Thr)
c.3385C>A (p.Pro1129Thr)
c.3310C>A (p.Pro1104Thr)
1g.16986247_16986257delinsGCGGCCAGGGCCA1156049323ATP13A2c.3507_3517delinsGCCCTGGCCGC (p.Gln1169=)
c.3205_3215delinsGCCCTGGCCGC (p.Ala1069=)
c.3492_3502delinsGCCCTGGCCGC (p.Gln1164=)
n.1553_1563delinsGCCCTGGCCGC
c.925_935delinsGCCCTGGCCGC (p.Ala309=)
c.3337_3347delinsGCCCTGGCCGC (p.Ala1113=)
c.3334_3344delinsGCCCTGGCCGC (p.Ala1112=)
c.3322_3332delinsGCCCTGGCCGC (p.Ala1108=)
c.3310_3320delinsGCCCTGGCCGC (p.Ala1104=)
c.3277_3287delinsGCCCTGGCCGC (p.Ala1093=)
c.3220_3230delinsGCCCTGGCCGC (p.Ala1074=)
c.3319_3329delinsGCCCTGGCCGC (p.Ala1107=)
c.3295_3305delinsGCCCTGGCCGC (p.Ala1099=)
c.3130_3140delinsGCCCTGGCCGC (p.Ala1044=)
c.3489_3499delinsGCCCTGGCCGC (p.Gln1163=)
c.3465_3475delinsGCCCTGGCCGC (p.Gln1155=)
c.3462_3472delinsGCCCTGGCCGC (p.Gln1154=)
c.3390_3400delinsGCCCTGGCCGC (p.Gln1130=)
c.3375_3385delinsGCCCTGGCCGC (p.Gln1125=)
c.3300_3310delinsGCCCTGGCCGC (p.Gln1100=)
1g.16986248C>ACA338232074ATP13A2c.3516G>T (p.Pro1172=)
c.3214G>T (p.Ala1072Ser)
c.3501G>T (p.Pro1167=)
n.1562G>T
c.934G>T (p.Ala312Ser)
c.3346G>T (p.Ala1116Ser)
c.3343G>T (p.Ala1115Ser)
c.3331G>T (p.Ala1111Ser)
c.3319G>T (p.Ala1107Ser)
c.3286G>T (p.Ala1096Ser)
c.3229G>T (p.Ala1077Ser)
c.3328G>T (p.Ala1110Ser)
c.3304G>T (p.Ala1102Ser)
c.3139G>T (p.Ala1047Ser)
c.3498G>T (p.Pro1166=)
c.3474G>T (p.Pro1158=)
c.3471G>T (p.Pro1157=)
c.3399G>T (p.Pro1133=)
c.3384G>T (p.Pro1128=)
c.3309G>T (p.Pro1103=)
 gnomAD v4
1g.16986248C=CA1139988465ATP13A2c.3516G= (p.Pro1172=)
c.3214G= (p.Ala1072=)
c.3501G= (p.Pro1167=)
n.1562G=
c.934G= (p.Ala312=)
c.3346G= (p.Ala1116=)
c.3343G= (p.Ala1115=)
c.3331G= (p.Ala1111=)
c.3319G= (p.Ala1107=)
c.3286G= (p.Ala1096=)
c.3229G= (p.Ala1077=)
c.3328G= (p.Ala1110=)
c.3304G= (p.Ala1102=)
c.3139G= (p.Ala1047=)
c.3498G= (p.Pro1166=)
c.3474G= (p.Pro1158=)
c.3471G= (p.Pro1157=)
c.3399G= (p.Pro1133=)
c.3384G= (p.Pro1128=)
c.3309G= (p.Pro1103=)
1g.16986248C>GCA338232073ATP13A2c.3516G>C (p.Pro1172=)
c.3214G>C (p.Ala1072Pro)
c.3501G>C (p.Pro1167=)
n.1562G>C
c.934G>C (p.Ala312Pro)
c.3346G>C (p.Ala1116Pro)
c.3343G>C (p.Ala1115Pro)
c.3331G>C (p.Ala1111Pro)
c.3319G>C (p.Ala1107Pro)
c.3286G>C (p.Ala1096Pro)
c.3229G>C (p.Ala1077Pro)
c.3328G>C (p.Ala1110Pro)
c.3304G>C (p.Ala1102Pro)
c.3139G>C (p.Ala1047Pro)
c.3498G>C (p.Pro1166=)
c.3474G>C (p.Pro1158=)
c.3471G>C (p.Pro1157=)
c.3399G>C (p.Pro1133=)
c.3384G>C (p.Pro1128=)
c.3309G>C (p.Pro1103=)
 dbSNP
1g.16986248C>TCA151963ATP13A2c.3516G>A (p.Pro1172=)
c.3214G>A (p.Ala1072Thr)
c.3501G>A (p.Pro1167=)
n.1562G>A
c.934G>A (p.Ala312Thr)
c.3346G>A (p.Ala1116Thr)
c.3343G>A (p.Ala1115Thr)
c.3331G>A (p.Ala1111Thr)
c.3319G>A (p.Ala1107Thr)
c.3286G>A (p.Ala1096Thr)
c.3229G>A (p.Ala1077Thr)
c.3328G>A (p.Ala1110Thr)
c.3304G>A (p.Ala1102Thr)
c.3139G>A (p.Ala1047Thr)
c.3498G>A (p.Pro1166=)
c.3474G>A (p.Pro1158=)
c.3471G>A (p.Pro1157=)
c.3399G>A (p.Pro1133=)
c.3384G>A (p.Pro1128=)
c.3309G>A (p.Pro1103=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986248_16986257delCA999085017ATP13A2c.3507_3516del (p.Gln1169HisfsTer8)
c.3205_3214del (p.Ala1069ProfsTer9)
c.3492_3501del (p.Gln1164HisfsTer8)
n.1553_1562del
c.925_934del (p.Ala309ProfsTer9)
c.3337_3346del (p.Ala1113ProfsTer9)
c.3334_3343del (p.Ala1112ProfsTer9)
c.3322_3331del (p.Ala1108ProfsTer9)
c.3310_3319del (p.Ala1104ProfsTer9)
c.3277_3286del (p.Ala1093ProfsTer9)
c.3220_3229del (p.Ala1074ProfsTer9)
c.3319_3328del (p.Ala1107ProfsTer9)
c.3295_3304del (p.Ala1099ProfsTer9)
c.3130_3139del (p.Ala1044ProfsTer9)
c.3489_3498del (p.Gln1163HisfsTer8)
c.3465_3474del (p.Gln1155HisfsTer8)
c.3462_3471del (p.Gln1154HisfsTer8)
c.3390_3399del (p.Gln1130HisfsTer8)
c.3375_3384del (p.Gln1125HisfsTer8)
c.3300_3309del (p.Gln1100HisfsTer8)
 dbSNP gnomAD v3 gnomAD v4
1g.16986255_16986268dupCA636463ATP13A2c.3503_3516dup (p.Pro1173SerfsTer12)
c.3201_3214dup (p.Ala1072GlufsTer14)
c.3488_3501dup (p.Pro1168SerfsTer12)
n.1549_1562dup
c.921_934dup (p.Ala312GlufsTer14)
c.3333_3346dup (p.Ala1116GlufsTer14)
c.3330_3343dup (p.Ala1115GlufsTer14)
c.3318_3331dup (p.Ala1111GlufsTer14)
c.3306_3319dup (p.Ala1107GlufsTer14)
c.3273_3286dup (p.Ala1096GlufsTer14)
c.3216_3229dup (p.Ala1077GlufsTer14)
c.3315_3328dup (p.Ala1110GlufsTer14)
c.3291_3304dup (p.Ala1102GlufsTer14)
c.3126_3139dup (p.Ala1047GlufsTer14)
c.3485_3498dup (p.Pro1167SerfsTer12)
c.3461_3474dup (p.Pro1159SerfsTer12)
c.3458_3471dup (p.Pro1158SerfsTer12)
c.3386_3399dup (p.Pro1134SerfsTer12)
c.3371_3384dup (p.Pro1129SerfsTer12)
c.3296_3309dup (p.Pro1104SerfsTer12)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986249G>ACA636464ATP13A2c.3515C>T (p.Pro1172Leu)
c.3213C>T (p.Ala1071=)
c.3500C>T (p.Pro1167Leu)
n.1561C>T
c.933C>T (p.Ala311=)
c.3345C>T (p.Ala1115=)
c.3342C>T (p.Ala1114=)
c.3330C>T (p.Ala1110=)
c.3318C>T (p.Ala1106=)
c.3285C>T (p.Ala1095=)
c.3228C>T (p.Ala1076=)
c.3327C>T (p.Ala1109=)
c.3303C>T (p.Ala1101=)
c.3138C>T (p.Ala1046=)
c.3497C>T (p.Pro1166Leu)
c.3473C>T (p.Pro1158Leu)
c.3470C>T (p.Pro1157Leu)
c.3398C>T (p.Pro1133Leu)
c.3383C>T (p.Pro1128Leu)
c.3308C>T (p.Pro1103Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986249G>CCA338232075ATP13A2c.3515C>G (p.Pro1172Arg)
c.3213C>G (p.Ala1071=)
c.3500C>G (p.Pro1167Arg)
n.1561C>G
c.933C>G (p.Ala311=)
c.3345C>G (p.Ala1115=)
c.3342C>G (p.Ala1114=)
c.3330C>G (p.Ala1110=)
c.3318C>G (p.Ala1106=)
c.3285C>G (p.Ala1095=)
c.3228C>G (p.Ala1076=)
c.3327C>G (p.Ala1109=)
c.3303C>G (p.Ala1101=)
c.3138C>G (p.Ala1046=)
c.3497C>G (p.Pro1166Arg)
c.3473C>G (p.Pro1158Arg)
c.3470C>G (p.Pro1157Arg)
c.3398C>G (p.Pro1133Arg)
c.3383C>G (p.Pro1128Arg)
c.3308C>G (p.Pro1103Arg)
1g.16986249G=CA1156049330ATP13A2c.3515C= (p.Pro1172=)
c.3213C= (p.Ala1071=)
c.3500C= (p.Pro1167=)
n.1561C=
c.933C= (p.Ala311=)
c.3345C= (p.Ala1115=)
c.3342C= (p.Ala1114=)
c.3330C= (p.Ala1110=)
c.3318C= (p.Ala1106=)
c.3285C= (p.Ala1095=)
c.3228C= (p.Ala1076=)
c.3327C= (p.Ala1109=)
c.3303C= (p.Ala1101=)
c.3138C= (p.Ala1046=)
c.3497C= (p.Pro1166=)
c.3473C= (p.Pro1158=)
c.3470C= (p.Pro1157=)
c.3398C= (p.Pro1133=)
c.3383C= (p.Pro1128=)
c.3308C= (p.Pro1103=)
1g.16986249G>TCA338232076ATP13A2c.3515C>A (p.Pro1172Gln)
c.3213C>A (p.Ala1071=)
c.3500C>A (p.Pro1167Gln)
n.1561C>A
c.933C>A (p.Ala311=)
c.3345C>A (p.Ala1115=)
c.3342C>A (p.Ala1114=)
c.3330C>A (p.Ala1110=)
c.3318C>A (p.Ala1106=)
c.3285C>A (p.Ala1095=)
c.3228C>A (p.Ala1076=)
c.3327C>A (p.Ala1109=)
c.3303C>A (p.Ala1101=)
c.3138C>A (p.Ala1046=)
c.3497C>A (p.Pro1166Gln)
c.3473C>A (p.Pro1158Gln)
c.3470C>A (p.Pro1157Gln)
c.3398C>A (p.Pro1133Gln)
c.3383C>A (p.Pro1128Gln)
c.3308C>A (p.Pro1103Gln)
 gnomAD v4
1g.16986250G>ACA338232078ATP13A2c.3514C>T (p.Pro1172Ser)
c.3212C>T (p.Ala1071Val)
c.3499C>T (p.Pro1167Ser)
n.1560C>T
c.932C>T (p.Ala311Val)
c.3344C>T (p.Ala1115Val)
c.3341C>T (p.Ala1114Val)
c.3329C>T (p.Ala1110Val)
c.3317C>T (p.Ala1106Val)
c.3284C>T (p.Ala1095Val)
c.3227C>T (p.Ala1076Val)
c.3326C>T (p.Ala1109Val)
c.3302C>T (p.Ala1101Val)
c.3137C>T (p.Ala1046Val)
c.3496C>T (p.Pro1166Ser)
c.3472C>T (p.Pro1158Ser)
c.3469C>T (p.Pro1157Ser)
c.3397C>T (p.Pro1133Ser)
c.3382C>T (p.Pro1128Ser)
c.3307C>T (p.Pro1103Ser)
1g.16986250G>CCA338232090ATP13A2c.3514C>G (p.Pro1172Ala)
c.3212C>G (p.Ala1071Gly)
c.3499C>G (p.Pro1167Ala)
n.1560C>G
c.932C>G (p.Ala311Gly)
c.3344C>G (p.Ala1115Gly)
c.3341C>G (p.Ala1114Gly)
c.3329C>G (p.Ala1110Gly)
c.3317C>G (p.Ala1106Gly)
c.3284C>G (p.Ala1095Gly)
c.3227C>G (p.Ala1076Gly)
c.3326C>G (p.Ala1109Gly)
c.3302C>G (p.Ala1101Gly)
c.3137C>G (p.Ala1046Gly)
c.3496C>G (p.Pro1166Ala)
c.3472C>G (p.Pro1158Ala)
c.3469C>G (p.Pro1157Ala)
c.3397C>G (p.Pro1133Ala)
c.3382C>G (p.Pro1128Ala)
c.3307C>G (p.Pro1103Ala)
1g.16986250G>TCA338232087ATP13A2c.3514C>A (p.Pro1172Thr)
c.3212C>A (p.Ala1071Asp)
c.3499C>A (p.Pro1167Thr)
n.1560C>A
c.932C>A (p.Ala311Asp)
c.3344C>A (p.Ala1115Asp)
c.3341C>A (p.Ala1114Asp)
c.3329C>A (p.Ala1110Asp)
c.3317C>A (p.Ala1106Asp)
c.3284C>A (p.Ala1095Asp)
c.3227C>A (p.Ala1076Asp)
c.3326C>A (p.Ala1109Asp)
c.3302C>A (p.Ala1101Asp)
c.3137C>A (p.Ala1046Asp)
c.3496C>A (p.Pro1166Thr)
c.3472C>A (p.Pro1158Thr)
c.3469C>A (p.Pro1157Thr)
c.3397C>A (p.Pro1133Thr)
c.3382C>A (p.Pro1128Thr)
c.3307C>A (p.Pro1103Thr)
1g.16986251C>ACA338232092ATP13A2c.3513G>T (p.Trp1171Cys)
c.3211G>T (p.Ala1071Ser)
c.3498G>T (p.Trp1166Cys)
n.1559G>T
c.931G>T (p.Ala311Ser)
c.3343G>T (p.Ala1115Ser)
c.3340G>T (p.Ala1114Ser)
c.3328G>T (p.Ala1110Ser)
c.3316G>T (p.Ala1106Ser)
c.3283G>T (p.Ala1095Ser)
c.3226G>T (p.Ala1076Ser)
c.3325G>T (p.Ala1109Ser)
c.3301G>T (p.Ala1101Ser)
c.3136G>T (p.Ala1046Ser)
c.3495G>T (p.Trp1165Cys)
c.3471G>T (p.Trp1157Cys)
c.3468G>T (p.Trp1156Cys)
c.3396G>T (p.Trp1132Cys)
c.3381G>T (p.Trp1127Cys)
c.3306G>T (p.Trp1102Cys)
1g.16986251C>GCA338232096ATP13A2c.3513G>C (p.Trp1171Cys)
c.3211G>C (p.Ala1071Pro)
c.3498G>C (p.Trp1166Cys)
n.1559G>C
c.931G>C (p.Ala311Pro)
c.3343G>C (p.Ala1115Pro)
c.3340G>C (p.Ala1114Pro)
c.3328G>C (p.Ala1110Pro)
c.3316G>C (p.Ala1106Pro)
c.3283G>C (p.Ala1095Pro)
c.3226G>C (p.Ala1076Pro)
c.3325G>C (p.Ala1109Pro)
c.3301G>C (p.Ala1101Pro)
c.3136G>C (p.Ala1046Pro)
c.3495G>C (p.Trp1165Cys)
c.3471G>C (p.Trp1157Cys)
c.3468G>C (p.Trp1156Cys)
c.3396G>C (p.Trp1132Cys)
c.3381G>C (p.Trp1127Cys)
c.3306G>C (p.Trp1102Cys)
1g.16986251C>TCA338232093ATP13A2c.3513G>A (p.Trp1171Ter)
c.3211G>A (p.Ala1071Thr)
c.3498G>A (p.Trp1166Ter)
n.1559G>A
c.931G>A (p.Ala311Thr)
c.3343G>A (p.Ala1115Thr)
c.3340G>A (p.Ala1114Thr)
c.3328G>A (p.Ala1110Thr)
c.3316G>A (p.Ala1106Thr)
c.3283G>A (p.Ala1095Thr)
c.3226G>A (p.Ala1076Thr)
c.3325G>A (p.Ala1109Thr)
c.3301G>A (p.Ala1101Thr)
c.3136G>A (p.Ala1046Thr)
c.3495G>A (p.Trp1165Ter)
c.3471G>A (p.Trp1157Ter)
c.3468G>A (p.Trp1156Ter)
c.3396G>A (p.Trp1132Ter)
c.3381G>A (p.Trp1127Ter)
c.3306G>A (p.Trp1102Ter)
1g.16986252C>ACA338232098ATP13A2c.3512G>T (p.Trp1171Leu)
c.3210G>T (p.Leu1070=)
c.3497G>T (p.Trp1166Leu)
n.1558G>T
c.930G>T (p.Leu310=)
c.3342G>T (p.Leu1114=)
c.3339G>T (p.Leu1113=)
c.3327G>T (p.Leu1109=)
c.3315G>T (p.Leu1105=)
c.3282G>T (p.Leu1094=)
c.3225G>T (p.Leu1075=)
c.3324G>T (p.Leu1108=)
c.3300G>T (p.Leu1100=)
c.3135G>T (p.Leu1045=)
c.3494G>T (p.Trp1165Leu)
c.3470G>T (p.Trp1157Leu)
c.3467G>T (p.Trp1156Leu)
c.3395G>T (p.Trp1132Leu)
c.3380G>T (p.Trp1127Leu)
c.3305G>T (p.Trp1102Leu)
1g.16986252C=CA1156049339ATP13A2c.3512G= (p.Trp1171=)
c.3210G= (p.Leu1070=)
c.3497G= (p.Trp1166=)
n.1558G=
c.930G= (p.Leu310=)
c.3342G= (p.Leu1114=)
c.3339G= (p.Leu1113=)
c.3327G= (p.Leu1109=)
c.3315G= (p.Leu1105=)
c.3282G= (p.Leu1094=)
c.3225G= (p.Leu1075=)
c.3324G= (p.Leu1108=)
c.3300G= (p.Leu1100=)
c.3135G= (p.Leu1045=)
c.3494G= (p.Trp1165=)
c.3470G= (p.Trp1157=)
c.3467G= (p.Trp1156=)
c.3395G= (p.Trp1132=)
c.3380G= (p.Trp1127=)
c.3305G= (p.Trp1102=)
1g.16986252C>GCA338232099ATP13A2c.3512G>C (p.Trp1171Ser)
c.3210G>C (p.Leu1070=)
c.3497G>C (p.Trp1166Ser)
n.1558G>C
c.930G>C (p.Leu310=)
c.3342G>C (p.Leu1114=)
c.3339G>C (p.Leu1113=)
c.3327G>C (p.Leu1109=)
c.3315G>C (p.Leu1105=)
c.3282G>C (p.Leu1094=)
c.3225G>C (p.Leu1075=)
c.3324G>C (p.Leu1108=)
c.3300G>C (p.Leu1100=)
c.3135G>C (p.Leu1045=)
c.3494G>C (p.Trp1165Ser)
c.3470G>C (p.Trp1157Ser)
c.3467G>C (p.Trp1156Ser)
c.3395G>C (p.Trp1132Ser)
c.3380G>C (p.Trp1127Ser)
c.3305G>C (p.Trp1102Ser)
 dbSNP gnomAD v2
1g.16986252C>TCA338232101ATP13A2c.3512G>A (p.Trp1171Ter)
c.3210G>A (p.Leu1070=)
c.3497G>A (p.Trp1166Ter)
n.1558G>A
c.930G>A (p.Leu310=)
c.3342G>A (p.Leu1114=)
c.3339G>A (p.Leu1113=)
c.3327G>A (p.Leu1109=)
c.3315G>A (p.Leu1105=)
c.3282G>A (p.Leu1094=)
c.3225G>A (p.Leu1075=)
c.3324G>A (p.Leu1108=)
c.3300G>A (p.Leu1100=)
c.3135G>A (p.Leu1045=)
c.3494G>A (p.Trp1165Ter)
c.3470G>A (p.Trp1157Ter)
c.3467G>A (p.Trp1156Ter)
c.3395G>A (p.Trp1132Ter)
c.3380G>A (p.Trp1127Ter)
c.3305G>A (p.Trp1102Ter)
1g.16986253A>CCA338232104ATP13A2c.3511T>G (p.Trp1171Gly)
c.3209T>G (p.Leu1070Arg)
c.3496T>G (p.Trp1166Gly)
n.1557T>G
c.929T>G (p.Leu310Arg)
c.3341T>G (p.Leu1114Arg)
c.3338T>G (p.Leu1113Arg)
c.3326T>G (p.Leu1109Arg)
c.3314T>G (p.Leu1105Arg)
c.3281T>G (p.Leu1094Arg)
c.3224T>G (p.Leu1075Arg)
c.3323T>G (p.Leu1108Arg)
c.3299T>G (p.Leu1100Arg)
c.3134T>G (p.Leu1045Arg)
c.3493T>G (p.Trp1165Gly)
c.3469T>G (p.Trp1157Gly)
c.3466T>G (p.Trp1156Gly)
c.3394T>G (p.Trp1132Gly)
c.3379T>G (p.Trp1127Gly)
c.3304T>G (p.Trp1102Gly)
1g.16986253A>GCA338232106ATP13A2c.3511T>C (p.Trp1171Arg)
c.3209T>C (p.Leu1070Pro)
c.3496T>C (p.Trp1166Arg)
n.1557T>C
c.929T>C (p.Leu310Pro)
c.3341T>C (p.Leu1114Pro)
c.3338T>C (p.Leu1113Pro)
c.3326T>C (p.Leu1109Pro)
c.3314T>C (p.Leu1105Pro)
c.3281T>C (p.Leu1094Pro)
c.3224T>C (p.Leu1075Pro)
c.3323T>C (p.Leu1108Pro)
c.3299T>C (p.Leu1100Pro)
c.3134T>C (p.Leu1045Pro)
c.3493T>C (p.Trp1165Arg)
c.3469T>C (p.Trp1157Arg)
c.3466T>C (p.Trp1156Arg)
c.3394T>C (p.Trp1132Arg)
c.3379T>C (p.Trp1127Arg)
c.3304T>C (p.Trp1102Arg)
1g.16986253A>TCA338232107ATP13A2c.3511T>A (p.Trp1171Arg)
c.3209T>A (p.Leu1070Gln)
c.3496T>A (p.Trp1166Arg)
n.1557T>A
c.929T>A (p.Leu310Gln)
c.3341T>A (p.Leu1114Gln)
c.3338T>A (p.Leu1113Gln)
c.3326T>A (p.Leu1109Gln)
c.3314T>A (p.Leu1105Gln)
c.3281T>A (p.Leu1094Gln)
c.3224T>A (p.Leu1075Gln)
c.3323T>A (p.Leu1108Gln)
c.3299T>A (p.Leu1100Gln)
c.3134T>A (p.Leu1045Gln)
c.3493T>A (p.Trp1165Arg)
c.3469T>A (p.Trp1157Arg)
c.3466T>A (p.Trp1156Arg)
c.3394T>A (p.Trp1132Arg)
c.3379T>A (p.Trp1127Arg)
c.3304T>A (p.Trp1102Arg)
1g.16986254G>ACA416093520ATP13A2c.3510C>T (p.Pro1170=)
c.3208C>T (p.Leu1070=)
c.3495C>T (p.Pro1165=)
n.1556C>T
c.928C>T (p.Leu310=)
c.3340C>T (p.Leu1114=)
c.3337C>T (p.Leu1113=)
c.3325C>T (p.Leu1109=)
c.3313C>T (p.Leu1105=)
c.3280C>T (p.Leu1094=)
c.3223C>T (p.Leu1075=)
c.3322C>T (p.Leu1108=)
c.3298C>T (p.Leu1100=)
c.3133C>T (p.Leu1045=)
c.3492C>T (p.Pro1164=)
c.3468C>T (p.Pro1156=)
c.3465C>T (p.Pro1155=)
c.3393C>T (p.Pro1131=)
c.3378C>T (p.Pro1126=)
c.3303C>T (p.Pro1101=)
1g.16986254G>CCA338232109ATP13A2c.3510C>G (p.Pro1170=)
c.3208C>G (p.Leu1070Val)
c.3495C>G (p.Pro1165=)
n.1556C>G
c.928C>G (p.Leu310Val)
c.3340C>G (p.Leu1114Val)
c.3337C>G (p.Leu1113Val)
c.3325C>G (p.Leu1109Val)
c.3313C>G (p.Leu1105Val)
c.3280C>G (p.Leu1094Val)
c.3223C>G (p.Leu1075Val)
c.3322C>G (p.Leu1108Val)
c.3298C>G (p.Leu1100Val)
c.3133C>G (p.Leu1045Val)
c.3492C>G (p.Pro1164=)
c.3468C>G (p.Pro1156=)
c.3465C>G (p.Pro1155=)
c.3393C>G (p.Pro1131=)
c.3378C>G (p.Pro1126=)
c.3303C>G (p.Pro1101=)
 gnomAD v4
1g.16986254G>TCA338232108ATP13A2c.3510C>A (p.Pro1170=)
c.3208C>A (p.Leu1070Met)
c.3495C>A (p.Pro1165=)
n.1556C>A
c.928C>A (p.Leu310Met)
c.3340C>A (p.Leu1114Met)
c.3337C>A (p.Leu1113Met)
c.3325C>A (p.Leu1109Met)
c.3313C>A (p.Leu1105Met)
c.3280C>A (p.Leu1094Met)
c.3223C>A (p.Leu1075Met)
c.3322C>A (p.Leu1108Met)
c.3298C>A (p.Leu1100Met)
c.3133C>A (p.Leu1045Met)
c.3492C>A (p.Pro1164=)
c.3468C>A (p.Pro1156=)
c.3465C>A (p.Pro1155=)
c.3393C>A (p.Pro1131=)
c.3378C>A (p.Pro1126=)
c.3303C>A (p.Pro1101=)
1g.16986255G>ACA338232110ATP13A2c.3509C>T (p.Pro1170Leu)
c.3207C>T (p.Ala1069=)
c.3494C>T (p.Pro1165Leu)
n.1555C>T
c.927C>T (p.Ala309=)
c.3339C>T (p.Ala1113=)
c.3336C>T (p.Ala1112=)
c.3324C>T (p.Ala1108=)
c.3312C>T (p.Ala1104=)
c.3279C>T (p.Ala1093=)
c.3222C>T (p.Ala1074=)
c.3321C>T (p.Ala1107=)
c.3297C>T (p.Ala1099=)
c.3132C>T (p.Ala1044=)
c.3491C>T (p.Pro1164Leu)
c.3467C>T (p.Pro1156Leu)
c.3464C>T (p.Pro1155Leu)
c.3392C>T (p.Pro1131Leu)
c.3377C>T (p.Pro1126Leu)
c.3302C>T (p.Pro1101Leu)
1g.16986255G>CCA338232111ATP13A2c.3509C>G (p.Pro1170Arg)
c.3207C>G (p.Ala1069=)
c.3494C>G (p.Pro1165Arg)
n.1555C>G
c.927C>G (p.Ala309=)
c.3339C>G (p.Ala1113=)
c.3336C>G (p.Ala1112=)
c.3324C>G (p.Ala1108=)
c.3312C>G (p.Ala1104=)
c.3279C>G (p.Ala1093=)
c.3222C>G (p.Ala1074=)
c.3321C>G (p.Ala1107=)
c.3297C>G (p.Ala1099=)
c.3132C>G (p.Ala1044=)
c.3491C>G (p.Pro1164Arg)
c.3467C>G (p.Pro1156Arg)
c.3464C>G (p.Pro1155Arg)
c.3392C>G (p.Pro1131Arg)
c.3377C>G (p.Pro1126Arg)
c.3302C>G (p.Pro1101Arg)
1g.16986255G>TCA338232112ATP13A2c.3509C>A (p.Pro1170His)
c.3207C>A (p.Ala1069=)
c.3494C>A (p.Pro1165His)
n.1555C>A
c.927C>A (p.Ala309=)
c.3339C>A (p.Ala1113=)
c.3336C>A (p.Ala1112=)
c.3324C>A (p.Ala1108=)
c.3312C>A (p.Ala1104=)
c.3279C>A (p.Ala1093=)
c.3222C>A (p.Ala1074=)
c.3321C>A (p.Ala1107=)
c.3297C>A (p.Ala1099=)
c.3132C>A (p.Ala1044=)
c.3491C>A (p.Pro1164His)
c.3467C>A (p.Pro1156His)
c.3464C>A (p.Pro1155His)
c.3392C>A (p.Pro1131His)
c.3377C>A (p.Pro1126His)
c.3302C>A (p.Pro1101His)
1g.16986256G>ACA338232113ATP13A2c.3508C>T (p.Pro1170Ser)
c.3206C>T (p.Ala1069Val)
c.3493C>T (p.Pro1165Ser)
n.1554C>T
c.926C>T (p.Ala309Val)
c.3338C>T (p.Ala1113Val)
c.3335C>T (p.Ala1112Val)
c.3323C>T (p.Ala1108Val)
c.3311C>T (p.Ala1104Val)
c.3278C>T (p.Ala1093Val)
c.3221C>T (p.Ala1074Val)
c.3320C>T (p.Ala1107Val)
c.3296C>T (p.Ala1099Val)
c.3131C>T (p.Ala1044Val)
c.3490C>T (p.Pro1164Ser)
c.3466C>T (p.Pro1156Ser)
c.3463C>T (p.Pro1155Ser)
c.3391C>T (p.Pro1131Ser)
c.3376C>T (p.Pro1126Ser)
c.3301C>T (p.Pro1101Ser)
1g.16986256G>CCA338232116ATP13A2c.3508C>G (p.Pro1170Ala)
c.3206C>G (p.Ala1069Gly)
c.3493C>G (p.Pro1165Ala)
n.1554C>G
c.926C>G (p.Ala309Gly)
c.3338C>G (p.Ala1113Gly)
c.3335C>G (p.Ala1112Gly)
c.3323C>G (p.Ala1108Gly)
c.3311C>G (p.Ala1104Gly)
c.3278C>G (p.Ala1093Gly)
c.3221C>G (p.Ala1074Gly)
c.3320C>G (p.Ala1107Gly)
c.3296C>G (p.Ala1099Gly)
c.3131C>G (p.Ala1044Gly)
c.3490C>G (p.Pro1164Ala)
c.3466C>G (p.Pro1156Ala)
c.3463C>G (p.Pro1155Ala)
c.3391C>G (p.Pro1131Ala)
c.3376C>G (p.Pro1126Ala)
c.3301C>G (p.Pro1101Ala)
1g.16986256G>TCA338232117ATP13A2c.3508C>A (p.Pro1170Thr)
c.3206C>A (p.Ala1069Asp)
c.3493C>A (p.Pro1165Thr)
n.1554C>A
c.926C>A (p.Ala309Asp)
c.3338C>A (p.Ala1113Asp)
c.3335C>A (p.Ala1112Asp)
c.3323C>A (p.Ala1108Asp)
c.3311C>A (p.Ala1104Asp)
c.3278C>A (p.Ala1093Asp)
c.3221C>A (p.Ala1074Asp)
c.3320C>A (p.Ala1107Asp)
c.3296C>A (p.Ala1099Asp)
c.3131C>A (p.Ala1044Asp)
c.3490C>A (p.Pro1164Thr)
c.3466C>A (p.Pro1156Thr)
c.3463C>A (p.Pro1155Thr)
c.3391C>A (p.Pro1131Thr)
c.3376C>A (p.Pro1126Thr)
c.3301C>A (p.Pro1101Thr)
1g.16986257C>ACA338232122ATP13A2c.3507G>T (p.Gln1169His)
c.3205G>T (p.Ala1069Ser)
c.3492G>T (p.Gln1164His)
n.1553G>T
c.925G>T (p.Ala309Ser)
c.3337G>T (p.Ala1113Ser)
c.3334G>T (p.Ala1112Ser)
c.3322G>T (p.Ala1108Ser)
c.3310G>T (p.Ala1104Ser)
c.3277G>T (p.Ala1093Ser)
c.3220G>T (p.Ala1074Ser)
c.3319G>T (p.Ala1107Ser)
c.3295G>T (p.Ala1099Ser)
c.3130G>T (p.Ala1044Ser)
c.3489G>T (p.Gln1163His)
c.3465G>T (p.Gln1155His)
c.3462G>T (p.Gln1154His)
c.3390G>T (p.Gln1130His)
c.3375G>T (p.Gln1125His)
c.3300G>T (p.Gln1100His)
1g.16986257C>GCA338232119ATP13A2c.3507G>C (p.Gln1169His)
c.3205G>C (p.Ala1069Pro)
c.3492G>C (p.Gln1164His)
n.1553G>C
c.925G>C (p.Ala309Pro)
c.3337G>C (p.Ala1113Pro)
c.3334G>C (p.Ala1112Pro)
c.3322G>C (p.Ala1108Pro)
c.3310G>C (p.Ala1104Pro)
c.3277G>C (p.Ala1093Pro)
c.3220G>C (p.Ala1074Pro)
c.3319G>C (p.Ala1107Pro)
c.3295G>C (p.Ala1099Pro)
c.3130G>C (p.Ala1044Pro)
c.3489G>C (p.Gln1163His)
c.3465G>C (p.Gln1155His)
c.3462G>C (p.Gln1154His)
c.3390G>C (p.Gln1130His)
c.3375G>C (p.Gln1125His)
c.3300G>C (p.Gln1100His)
1g.16986257C>TCA338232121ATP13A2c.3507G>A (p.Gln1169=)
c.3205G>A (p.Ala1069Thr)
c.3492G>A (p.Gln1164=)
n.1553G>A
c.925G>A (p.Ala309Thr)
c.3337G>A (p.Ala1113Thr)
c.3334G>A (p.Ala1112Thr)
c.3322G>A (p.Ala1108Thr)
c.3310G>A (p.Ala1104Thr)
c.3277G>A (p.Ala1093Thr)
c.3220G>A (p.Ala1074Thr)
c.3319G>A (p.Ala1107Thr)
c.3295G>A (p.Ala1099Thr)
c.3130G>A (p.Ala1044Thr)
c.3489G>A (p.Gln1163=)
c.3465G>A (p.Gln1155=)
c.3462G>A (p.Gln1154=)
c.3390G>A (p.Gln1130=)
c.3375G>A (p.Gln1125=)
c.3300G>A (p.Gln1100=)
1g.16986258T>ACA338232125ATP13A2c.3506A>T (p.Gln1169Leu)
c.3204A>T (p.Ala1068=)
c.3491A>T (p.Gln1164Leu)
n.1552A>T
c.924A>T (p.Ala308=)
c.3336A>T (p.Ala1112=)
c.3333A>T (p.Ala1111=)
c.3321A>T (p.Ala1107=)
c.3309A>T (p.Ala1103=)
c.3276A>T (p.Ala1092=)
c.3219A>T (p.Ala1073=)
c.3318A>T (p.Ala1106=)
c.3294A>T (p.Ala1098=)
c.3129A>T (p.Ala1043=)
c.3488A>T (p.Gln1163Leu)
c.3464A>T (p.Gln1155Leu)
c.3461A>T (p.Gln1154Leu)
c.3389A>T (p.Gln1130Leu)
c.3374A>T (p.Gln1125Leu)
c.3299A>T (p.Gln1100Leu)
1g.16986258T>CCA338232130ATP13A2c.3506A>G (p.Gln1169Arg)
c.3204A>G (p.Ala1068=)
c.3491A>G (p.Gln1164Arg)
n.1552A>G
c.924A>G (p.Ala308=)
c.3336A>G (p.Ala1112=)
c.3333A>G (p.Ala1111=)
c.3321A>G (p.Ala1107=)
c.3309A>G (p.Ala1103=)
c.3276A>G (p.Ala1092=)
c.3219A>G (p.Ala1073=)
c.3318A>G (p.Ala1106=)
c.3294A>G (p.Ala1098=)
c.3129A>G (p.Ala1043=)
c.3488A>G (p.Gln1163Arg)
c.3464A>G (p.Gln1155Arg)
c.3461A>G (p.Gln1154Arg)
c.3389A>G (p.Gln1130Arg)
c.3374A>G (p.Gln1125Arg)
c.3299A>G (p.Gln1100Arg)
 dbSNP
1g.16986258T>GCA338232133ATP13A2c.3506A>C (p.Gln1169Pro)
c.3204A>C (p.Ala1068=)
c.3491A>C (p.Gln1164Pro)
n.1552A>C
c.924A>C (p.Ala308=)
c.3336A>C (p.Ala1112=)
c.3333A>C (p.Ala1111=)
c.3321A>C (p.Ala1107=)
c.3309A>C (p.Ala1103=)
c.3276A>C (p.Ala1092=)
c.3219A>C (p.Ala1073=)
c.3318A>C (p.Ala1106=)
c.3294A>C (p.Ala1098=)
c.3129A>C (p.Ala1043=)
c.3488A>C (p.Gln1163Pro)
c.3464A>C (p.Gln1155Pro)
c.3461A>C (p.Gln1154Pro)
c.3389A>C (p.Gln1130Pro)
c.3374A>C (p.Gln1125Pro)
c.3299A>C (p.Gln1100Pro)
1g.16986258T=CA1156049346ATP13A2c.3506A= (p.Gln1169=)
c.3204A= (p.Ala1068=)
c.3491A= (p.Gln1164=)
n.1552A=
c.924A= (p.Ala308=)
c.3336A= (p.Ala1112=)
c.3333A= (p.Ala1111=)
c.3321A= (p.Ala1107=)
c.3309A= (p.Ala1103=)
c.3276A= (p.Ala1092=)
c.3219A= (p.Ala1073=)
c.3318A= (p.Ala1106=)
c.3294A= (p.Ala1098=)
c.3129A= (p.Ala1043=)
c.3488A= (p.Gln1163=)
c.3464A= (p.Gln1155=)
c.3461A= (p.Gln1154=)
c.3389A= (p.Gln1130=)
c.3374A= (p.Gln1125=)
c.3299A= (p.Gln1100=)
1g.16986259G>ACA338232135ATP13A2c.3505C>T (p.Gln1169Ter)
c.3203C>T (p.Ala1068Val)
c.3490C>T (p.Gln1164Ter)
n.1551C>T
c.923C>T (p.Ala308Val)
c.3335C>T (p.Ala1112Val)
c.3332C>T (p.Ala1111Val)
c.3320C>T (p.Ala1107Val)
c.3308C>T (p.Ala1103Val)
c.3275C>T (p.Ala1092Val)
c.3218C>T (p.Ala1073Val)
c.3317C>T (p.Ala1106Val)
c.3293C>T (p.Ala1098Val)
c.3128C>T (p.Ala1043Val)
c.3487C>T (p.Gln1163Ter)
c.3463C>T (p.Gln1155Ter)
c.3460C>T (p.Gln1154Ter)
c.3388C>T (p.Gln1130Ter)
c.3373C>T (p.Gln1125Ter)
c.3298C>T (p.Gln1100Ter)
 gnomAD v4
1g.16986259G>CCA338232138ATP13A2c.3505C>G (p.Gln1169Glu)
c.3203C>G (p.Ala1068Gly)
c.3490C>G (p.Gln1164Glu)
n.1551C>G
c.923C>G (p.Ala308Gly)
c.3335C>G (p.Ala1112Gly)
c.3332C>G (p.Ala1111Gly)
c.3320C>G (p.Ala1107Gly)
c.3308C>G (p.Ala1103Gly)
c.3275C>G (p.Ala1092Gly)
c.3218C>G (p.Ala1073Gly)
c.3317C>G (p.Ala1106Gly)
c.3293C>G (p.Ala1098Gly)
c.3128C>G (p.Ala1043Gly)
c.3487C>G (p.Gln1163Glu)
c.3463C>G (p.Gln1155Glu)
c.3460C>G (p.Gln1154Glu)
c.3388C>G (p.Gln1130Glu)
c.3373C>G (p.Gln1125Glu)
c.3298C>G (p.Gln1100Glu)
1g.16986259G>TCA338232139ATP13A2c.3505C>A (p.Gln1169Lys)
c.3203C>A (p.Ala1068Glu)
c.3490C>A (p.Gln1164Lys)
n.1551C>A
c.923C>A (p.Ala308Glu)
c.3335C>A (p.Ala1112Glu)
c.3332C>A (p.Ala1111Glu)
c.3320C>A (p.Ala1107Glu)
c.3308C>A (p.Ala1103Glu)
c.3275C>A (p.Ala1092Glu)
c.3218C>A (p.Ala1073Glu)
c.3317C>A (p.Ala1106Glu)
c.3293C>A (p.Ala1098Glu)
c.3128C>A (p.Ala1043Glu)
c.3487C>A (p.Gln1163Lys)
c.3463C>A (p.Gln1155Lys)
c.3460C>A (p.Gln1154Lys)
c.3388C>A (p.Gln1130Lys)
c.3373C>A (p.Gln1125Lys)
c.3298C>A (p.Gln1100Lys)
 gnomAD v4
1g.16986260_16986263delCA999085020ATP13A2c.3502_3505del (p.Glu1168SerfsTer11)
c.3200_3203del (p.Arg1067GlnfsTer13)
c.3487_3490del (p.Glu1163SerfsTer11)
n.1548_1551del
c.920_923del (p.Arg307GlnfsTer13)
c.3332_3335del (p.Arg1111GlnfsTer13)
c.3329_3332del (p.Arg1110GlnfsTer13)
c.3317_3320del (p.Arg1106GlnfsTer13)
c.3305_3308del (p.Arg1102GlnfsTer13)
c.3272_3275del (p.Arg1091GlnfsTer13)
c.3215_3218del (p.Arg1072GlnfsTer13)
c.3314_3317del (p.Arg1105GlnfsTer13)
c.3290_3293del (p.Arg1097GlnfsTer13)
c.3125_3128del (p.Arg1042GlnfsTer13)
c.3484_3487del (p.Glu1162SerfsTer11)
c.3460_3463del (p.Glu1154SerfsTer11)
c.3457_3460del (p.Glu1153SerfsTer11)
c.3385_3388del (p.Glu1129SerfsTer11)
c.3370_3373del (p.Glu1124SerfsTer11)
c.3295_3298del (p.Glu1099SerfsTer11)
 gnomAD v3 gnomAD v4
1g.16986260C>ACA338232142ATP13A2c.3504G>T (p.Glu1168Asp)
c.3202G>T (p.Ala1068Ser)
c.3489G>T (p.Glu1163Asp)
n.1550G>T
c.922G>T (p.Ala308Ser)
c.3334G>T (p.Ala1112Ser)
c.3331G>T (p.Ala1111Ser)
c.3319G>T (p.Ala1107Ser)
c.3307G>T (p.Ala1103Ser)
c.3274G>T (p.Ala1092Ser)
c.3217G>T (p.Ala1073Ser)
c.3316G>T (p.Ala1106Ser)
c.3292G>T (p.Ala1098Ser)
c.3127G>T (p.Ala1043Ser)
c.3486G>T (p.Glu1162Asp)
c.3462G>T (p.Glu1154Asp)
c.3459G>T (p.Glu1153Asp)
c.3387G>T (p.Glu1129Asp)
c.3372G>T (p.Glu1124Asp)
c.3297G>T (p.Glu1099Asp)
1g.16986260C>GCA338232148ATP13A2c.3504G>C (p.Glu1168Asp)
c.3202G>C (p.Ala1068Pro)
c.3489G>C (p.Glu1163Asp)
n.1550G>C
c.922G>C (p.Ala308Pro)
c.3334G>C (p.Ala1112Pro)
c.3331G>C (p.Ala1111Pro)
c.3319G>C (p.Ala1107Pro)
c.3307G>C (p.Ala1103Pro)
c.3274G>C (p.Ala1092Pro)
c.3217G>C (p.Ala1073Pro)
c.3316G>C (p.Ala1106Pro)
c.3292G>C (p.Ala1098Pro)
c.3127G>C (p.Ala1043Pro)
c.3486G>C (p.Glu1162Asp)
c.3462G>C (p.Glu1154Asp)
c.3459G>C (p.Glu1153Asp)
c.3387G>C (p.Glu1129Asp)
c.3372G>C (p.Glu1124Asp)
c.3297G>C (p.Glu1099Asp)
1g.16986260C>TCA338232152ATP13A2c.3504G>A (p.Glu1168=)
c.3202G>A (p.Ala1068Thr)
c.3489G>A (p.Glu1163=)
n.1550G>A
c.922G>A (p.Ala308Thr)
c.3334G>A (p.Ala1112Thr)
c.3331G>A (p.Ala1111Thr)
c.3319G>A (p.Ala1107Thr)
c.3307G>A (p.Ala1103Thr)
c.3274G>A (p.Ala1092Thr)
c.3217G>A (p.Ala1073Thr)
c.3316G>A (p.Ala1106Thr)
c.3292G>A (p.Ala1098Thr)
c.3127G>A (p.Ala1043Thr)
c.3486G>A (p.Glu1162=)
c.3462G>A (p.Glu1154=)
c.3459G>A (p.Glu1153=)
c.3387G>A (p.Glu1129=)
c.3372G>A (p.Glu1124=)
c.3297G>A (p.Glu1099=)

Number of alleles fetched