Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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=)
1g.16986261T>ACA636465ATP13A2c.3503A>T (p.Glu1168Val)
c.3201A>T (p.Arg1067=)
c.3488A>T (p.Glu1163Val)
n.1549A>T
c.921A>T (p.Arg307=)
c.3333A>T (p.Arg1111=)
c.3330A>T (p.Arg1110=)
c.3318A>T (p.Arg1106=)
c.3306A>T (p.Arg1102=)
c.3273A>T (p.Arg1091=)
c.3216A>T (p.Arg1072=)
c.3315A>T (p.Arg1105=)
c.3291A>T (p.Arg1097=)
c.3126A>T (p.Arg1042=)
c.3485A>T (p.Glu1162Val)
c.3461A>T (p.Glu1154Val)
c.3458A>T (p.Glu1153Val)
c.3386A>T (p.Glu1129Val)
c.3371A>T (p.Glu1124Val)
c.3296A>T (p.Glu1099Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986261T>CCA338232156ATP13A2c.3503A>G (p.Glu1168Gly)
c.3201A>G (p.Arg1067=)
c.3488A>G (p.Glu1163Gly)
n.1549A>G
c.921A>G (p.Arg307=)
c.3333A>G (p.Arg1111=)
c.3330A>G (p.Arg1110=)
c.3318A>G (p.Arg1106=)
c.3306A>G (p.Arg1102=)
c.3273A>G (p.Arg1091=)
c.3216A>G (p.Arg1072=)
c.3315A>G (p.Arg1105=)
c.3291A>G (p.Arg1097=)
c.3126A>G (p.Arg1042=)
c.3485A>G (p.Glu1162Gly)
c.3461A>G (p.Glu1154Gly)
c.3458A>G (p.Glu1153Gly)
c.3386A>G (p.Glu1129Gly)
c.3371A>G (p.Glu1124Gly)
c.3296A>G (p.Glu1099Gly)
1g.16986261T>GCA338232158ATP13A2c.3503A>C (p.Glu1168Ala)
c.3201A>C (p.Arg1067=)
c.3488A>C (p.Glu1163Ala)
n.1549A>C
c.921A>C (p.Arg307=)
c.3333A>C (p.Arg1111=)
c.3330A>C (p.Arg1110=)
c.3318A>C (p.Arg1106=)
c.3306A>C (p.Arg1102=)
c.3273A>C (p.Arg1091=)
c.3216A>C (p.Arg1072=)
c.3315A>C (p.Arg1105=)
c.3291A>C (p.Arg1097=)
c.3126A>C (p.Arg1042=)
c.3485A>C (p.Glu1162Ala)
c.3461A>C (p.Glu1154Ala)
c.3458A>C (p.Glu1153Ala)
c.3386A>C (p.Glu1129Ala)
c.3371A>C (p.Glu1124Ala)
c.3296A>C (p.Glu1099Ala)
1g.16986261T=CA1156049363ATP13A2c.3503A= (p.Glu1168=)
c.3201A= (p.Arg1067=)
c.3488A= (p.Glu1163=)
n.1549A=
c.921A= (p.Arg307=)
c.3333A= (p.Arg1111=)
c.3330A= (p.Arg1110=)
c.3318A= (p.Arg1106=)
c.3306A= (p.Arg1102=)
c.3273A= (p.Arg1091=)
c.3216A= (p.Arg1072=)
c.3315A= (p.Arg1105=)
c.3291A= (p.Arg1097=)
c.3126A= (p.Arg1042=)
c.3485A= (p.Glu1162=)
c.3461A= (p.Glu1154=)
c.3458A= (p.Glu1153=)
c.3386A= (p.Glu1129=)
c.3371A= (p.Glu1124=)
c.3296A= (p.Glu1099=)
1g.16986262C>ACA338232160ATP13A2c.3502G>T (p.Glu1168Ter)
c.3200G>T (p.Arg1067Leu)
c.3487G>T (p.Glu1163Ter)
n.1548G>T
c.920G>T (p.Arg307Leu)
c.3332G>T (p.Arg1111Leu)
c.3329G>T (p.Arg1110Leu)
c.3317G>T (p.Arg1106Leu)
c.3305G>T (p.Arg1102Leu)
c.3272G>T (p.Arg1091Leu)
c.3215G>T (p.Arg1072Leu)
c.3314G>T (p.Arg1105Leu)
c.3290G>T (p.Arg1097Leu)
c.3125G>T (p.Arg1042Leu)
c.3484G>T (p.Glu1162Ter)
c.3460G>T (p.Glu1154Ter)
c.3457G>T (p.Glu1153Ter)
c.3385G>T (p.Glu1129Ter)
c.3370G>T (p.Glu1124Ter)
c.3295G>T (p.Glu1099Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.16986262C=CA1156049368ATP13A2c.3502G= (p.Glu1168=)
c.3200G= (p.Arg1067=)
c.3487G= (p.Glu1163=)
n.1548G=
c.920G= (p.Arg307=)
c.3332G= (p.Arg1111=)
c.3329G= (p.Arg1110=)
c.3317G= (p.Arg1106=)
c.3305G= (p.Arg1102=)
c.3272G= (p.Arg1091=)
c.3215G= (p.Arg1072=)
c.3314G= (p.Arg1105=)
c.3290G= (p.Arg1097=)
c.3125G= (p.Arg1042=)
c.3484G= (p.Glu1162=)
c.3460G= (p.Glu1154=)
c.3457G= (p.Glu1153=)
c.3385G= (p.Glu1129=)
c.3370G= (p.Glu1124=)
c.3295G= (p.Glu1099=)
1g.16986262C>GCA338232166ATP13A2c.3502G>C (p.Glu1168Gln)
c.3200G>C (p.Arg1067Pro)
c.3487G>C (p.Glu1163Gln)
n.1548G>C
c.920G>C (p.Arg307Pro)
c.3332G>C (p.Arg1111Pro)
c.3329G>C (p.Arg1110Pro)
c.3317G>C (p.Arg1106Pro)
c.3305G>C (p.Arg1102Pro)
c.3272G>C (p.Arg1091Pro)
c.3215G>C (p.Arg1072Pro)
c.3314G>C (p.Arg1105Pro)
c.3290G>C (p.Arg1097Pro)
c.3125G>C (p.Arg1042Pro)
c.3484G>C (p.Glu1162Gln)
c.3460G>C (p.Glu1154Gln)
c.3457G>C (p.Glu1153Gln)
c.3385G>C (p.Glu1129Gln)
c.3370G>C (p.Glu1124Gln)
c.3295G>C (p.Glu1099Gln)
1g.16986262C>TCA338232165ATP13A2c.3502G>A (p.Glu1168Lys)
c.3200G>A (p.Arg1067Gln)
c.3487G>A (p.Glu1163Lys)
n.1548G>A
c.920G>A (p.Arg307Gln)
c.3332G>A (p.Arg1111Gln)
c.3329G>A (p.Arg1110Gln)
c.3317G>A (p.Arg1106Gln)
c.3305G>A (p.Arg1102Gln)
c.3272G>A (p.Arg1091Gln)
c.3215G>A (p.Arg1072Gln)
c.3314G>A (p.Arg1105Gln)
c.3290G>A (p.Arg1097Gln)
c.3125G>A (p.Arg1042Gln)
c.3484G>A (p.Glu1162Lys)
c.3460G>A (p.Glu1154Lys)
c.3457G>A (p.Glu1153Lys)
c.3385G>A (p.Glu1129Lys)
c.3370G>A (p.Glu1124Lys)
c.3295G>A (p.Glu1099Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.16986263G>ACA636466ATP13A2c.3501C>T (p.Ala1167=)
c.3199C>T (p.Arg1067Ter)
c.3486C>T (p.Ala1162=)
n.1547C>T
c.919C>T (p.Arg307Ter)
c.3331C>T (p.Arg1111Ter)
c.3328C>T (p.Arg1110Ter)
c.3316C>T (p.Arg1106Ter)
c.3304C>T (p.Arg1102Ter)
c.3271C>T (p.Arg1091Ter)
c.3214C>T (p.Arg1072Ter)
c.3313C>T (p.Arg1105Ter)
c.3289C>T (p.Arg1097Ter)
c.3124C>T (p.Arg1042Ter)
c.3483C>T (p.Ala1161=)
c.3459C>T (p.Ala1153=)
c.3456C>T (p.Ala1152=)
c.3384C>T (p.Ala1128=)
c.3369C>T (p.Ala1123=)
c.3294C>T (p.Ala1098=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986263G>CCA636467ATP13A2c.3501C>G (p.Ala1167=)
c.3199C>G (p.Arg1067Gly)
c.3486C>G (p.Ala1162=)
n.1547C>G
c.919C>G (p.Arg307Gly)
c.3331C>G (p.Arg1111Gly)
c.3328C>G (p.Arg1110Gly)
c.3316C>G (p.Arg1106Gly)
c.3304C>G (p.Arg1102Gly)
c.3271C>G (p.Arg1091Gly)
c.3214C>G (p.Arg1072Gly)
c.3313C>G (p.Arg1105Gly)
c.3289C>G (p.Arg1097Gly)
c.3124C>G (p.Arg1042Gly)
c.3483C>G (p.Ala1161=)
c.3459C>G (p.Ala1153=)
c.3456C>G (p.Ala1152=)
c.3384C>G (p.Ala1128=)
c.3369C>G (p.Ala1123=)
c.3294C>G (p.Ala1098=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986263G=CA1156049372ATP13A2c.3501C= (p.Ala1167=)
c.3199C= (p.Arg1067=)
c.3486C= (p.Ala1162=)
n.1547C=
c.919C= (p.Arg307=)
c.3331C= (p.Arg1111=)
c.3328C= (p.Arg1110=)
c.3316C= (p.Arg1106=)
c.3304C= (p.Arg1102=)
c.3271C= (p.Arg1091=)
c.3214C= (p.Arg1072=)
c.3313C= (p.Arg1105=)
c.3289C= (p.Arg1097=)
c.3124C= (p.Arg1042=)
c.3483C= (p.Ala1161=)
c.3459C= (p.Ala1153=)
c.3456C= (p.Ala1152=)
c.3384C= (p.Ala1128=)
c.3369C= (p.Ala1123=)
c.3294C= (p.Ala1098=)
1g.16986263G>TCA416093524ATP13A2c.3501C>A (p.Ala1167=)
c.3199C>A (p.Arg1067=)
c.3486C>A (p.Ala1162=)
n.1547C>A
c.919C>A (p.Arg307=)
c.3331C>A (p.Arg1111=)
c.3328C>A (p.Arg1110=)
c.3316C>A (p.Arg1106=)
c.3304C>A (p.Arg1102=)
c.3271C>A (p.Arg1091=)
c.3214C>A (p.Arg1072=)
c.3313C>A (p.Arg1105=)
c.3289C>A (p.Arg1097=)
c.3124C>A (p.Arg1042=)
c.3483C>A (p.Ala1161=)
c.3459C>A (p.Ala1153=)
c.3456C>A (p.Ala1152=)
c.3384C>A (p.Ala1128=)
c.3369C>A (p.Ala1123=)
c.3294C>A (p.Ala1098=)
 gnomAD v4
1g.16986264G>ACA338232173ATP13A2c.3500C>T (p.Ala1167Val)
c.3198C>T (p.Gly1066=)
c.3485C>T (p.Ala1162Val)
n.1546C>T
c.918C>T (p.Gly306=)
c.3330C>T (p.Gly1110=)
c.3327C>T (p.Gly1109=)
c.3315C>T (p.Gly1105=)
c.3303C>T (p.Gly1101=)
c.3270C>T (p.Gly1090=)
c.3213C>T (p.Gly1071=)
c.3312C>T (p.Gly1104=)
c.3288C>T (p.Gly1096=)
c.3123C>T (p.Gly1041=)
c.3482C>T (p.Ala1161Val)
c.3458C>T (p.Ala1153Val)
c.3455C>T (p.Ala1152Val)
c.3383C>T (p.Ala1128Val)
c.3368C>T (p.Ala1123Val)
c.3293C>T (p.Ala1098Val)
 dbSNP gnomAD v2 gnomAD v4
1g.16986264G>CCA338232174ATP13A2c.3500C>G (p.Ala1167Gly)
c.3198C>G (p.Gly1066=)
c.3485C>G (p.Ala1162Gly)
n.1546C>G
c.918C>G (p.Gly306=)
c.3330C>G (p.Gly1110=)
c.3327C>G (p.Gly1109=)
c.3315C>G (p.Gly1105=)
c.3303C>G (p.Gly1101=)
c.3270C>G (p.Gly1090=)
c.3213C>G (p.Gly1071=)
c.3312C>G (p.Gly1104=)
c.3288C>G (p.Gly1096=)
c.3123C>G (p.Gly1041=)
c.3482C>G (p.Ala1161Gly)
c.3458C>G (p.Ala1153Gly)
c.3455C>G (p.Ala1152Gly)
c.3383C>G (p.Ala1128Gly)
c.3368C>G (p.Ala1123Gly)
c.3293C>G (p.Ala1098Gly)
1g.16986264G=CA1156049376ATP13A2c.3500C= (p.Ala1167=)
c.3198C= (p.Gly1066=)
c.3485C= (p.Ala1162=)
n.1546C=
c.918C= (p.Gly306=)
c.3330C= (p.Gly1110=)
c.3327C= (p.Gly1109=)
c.3315C= (p.Gly1105=)
c.3303C= (p.Gly1101=)
c.3270C= (p.Gly1090=)
c.3213C= (p.Gly1071=)
c.3312C= (p.Gly1104=)
c.3288C= (p.Gly1096=)
c.3123C= (p.Gly1041=)
c.3482C= (p.Ala1161=)
c.3458C= (p.Ala1153=)
c.3455C= (p.Ala1152=)
c.3383C= (p.Ala1128=)
c.3368C= (p.Ala1123=)
c.3293C= (p.Ala1098=)
1g.16986264G>TCA338232175ATP13A2c.3500C>A (p.Ala1167Asp)
c.3198C>A (p.Gly1066=)
c.3485C>A (p.Ala1162Asp)
n.1546C>A
c.918C>A (p.Gly306=)
c.3330C>A (p.Gly1110=)
c.3327C>A (p.Gly1109=)
c.3315C>A (p.Gly1105=)
c.3303C>A (p.Gly1101=)
c.3270C>A (p.Gly1090=)
c.3213C>A (p.Gly1071=)
c.3312C>A (p.Gly1104=)
c.3288C>A (p.Gly1096=)
c.3123C>A (p.Gly1041=)
c.3482C>A (p.Ala1161Asp)
c.3458C>A (p.Ala1153Asp)
c.3455C>A (p.Ala1152Asp)
c.3383C>A (p.Ala1128Asp)
c.3368C>A (p.Ala1123Asp)
c.3293C>A (p.Ala1098Asp)
 gnomAD v4
1g.16986265C>ACA338232176ATP13A2c.3499G>T (p.Ala1167Ser)
c.3197G>T (p.Gly1066Val)
c.3484G>T (p.Ala1162Ser)
n.1545G>T
c.917G>T (p.Gly306Val)
c.3329G>T (p.Gly1110Val)
c.3326G>T (p.Gly1109Val)
c.3314G>T (p.Gly1105Val)
c.3302G>T (p.Gly1101Val)
c.3269G>T (p.Gly1090Val)
c.3212G>T (p.Gly1071Val)
c.3311G>T (p.Gly1104Val)
c.3287G>T (p.Gly1096Val)
c.3122G>T (p.Gly1041Val)
c.3481G>T (p.Ala1161Ser)
c.3457G>T (p.Ala1153Ser)
c.3454G>T (p.Ala1152Ser)
c.3382G>T (p.Ala1128Ser)
c.3367G>T (p.Ala1123Ser)
c.3292G>T (p.Ala1098Ser)
1g.16986265C=CA1156049381ATP13A2c.3499G= (p.Ala1167=)
c.3197G= (p.Gly1066=)
c.3484G= (p.Ala1162=)
n.1545G=
c.917G= (p.Gly306=)
c.3329G= (p.Gly1110=)
c.3326G= (p.Gly1109=)
c.3314G= (p.Gly1105=)
c.3302G= (p.Gly1101=)
c.3269G= (p.Gly1090=)
c.3212G= (p.Gly1071=)
c.3311G= (p.Gly1104=)
c.3287G= (p.Gly1096=)
c.3122G= (p.Gly1041=)
c.3481G= (p.Ala1161=)
c.3457G= (p.Ala1153=)
c.3454G= (p.Ala1152=)
c.3382G= (p.Ala1128=)
c.3367G= (p.Ala1123=)
c.3292G= (p.Ala1098=)
1g.16986265C>GCA338232177ATP13A2c.3499G>C (p.Ala1167Pro)
c.3197G>C (p.Gly1066Ala)
c.3484G>C (p.Ala1162Pro)
n.1545G>C
c.917G>C (p.Gly306Ala)
c.3329G>C (p.Gly1110Ala)
c.3326G>C (p.Gly1109Ala)
c.3314G>C (p.Gly1105Ala)
c.3302G>C (p.Gly1101Ala)
c.3269G>C (p.Gly1090Ala)
c.3212G>C (p.Gly1071Ala)
c.3311G>C (p.Gly1104Ala)
c.3287G>C (p.Gly1096Ala)
c.3122G>C (p.Gly1041Ala)
c.3481G>C (p.Ala1161Pro)
c.3457G>C (p.Ala1153Pro)
c.3454G>C (p.Ala1152Pro)
c.3382G>C (p.Ala1128Pro)
c.3367G>C (p.Ala1123Pro)
c.3292G>C (p.Ala1098Pro)
1g.16986265C>TCA338232178ATP13A2c.3499G>A (p.Ala1167Thr)
c.3197G>A (p.Gly1066Asp)
c.3484G>A (p.Ala1162Thr)
n.1545G>A
c.917G>A (p.Gly306Asp)
c.3329G>A (p.Gly1110Asp)
c.3326G>A (p.Gly1109Asp)
c.3314G>A (p.Gly1105Asp)
c.3302G>A (p.Gly1101Asp)
c.3269G>A (p.Gly1090Asp)
c.3212G>A (p.Gly1071Asp)
c.3311G>A (p.Gly1104Asp)
c.3287G>A (p.Gly1096Asp)
c.3122G>A (p.Gly1041Asp)
c.3481G>A (p.Ala1161Thr)
c.3457G>A (p.Ala1153Thr)
c.3454G>A (p.Ala1152Thr)
c.3382G>A (p.Ala1128Thr)
c.3367G>A (p.Ala1123Thr)
c.3292G>A (p.Ala1098Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.16986266C>ACA338232180ATP13A2c.3498G>T (p.Leu1166=)
c.3196G>T (p.Gly1066Cys)
c.3483G>T (p.Leu1161=)
n.1544G>T
c.916G>T (p.Gly306Cys)
c.3328G>T (p.Gly1110Cys)
c.3325G>T (p.Gly1109Cys)
c.3313G>T (p.Gly1105Cys)
c.3301G>T (p.Gly1101Cys)
c.3268G>T (p.Gly1090Cys)
c.3211G>T (p.Gly1071Cys)
c.3310G>T (p.Gly1104Cys)
c.3286G>T (p.Gly1096Cys)
c.3121G>T (p.Gly1041Cys)
c.3480G>T (p.Leu1160=)
c.3456G>T (p.Leu1152=)
c.3453G>T (p.Leu1151=)
c.3381G>T (p.Leu1127=)
c.3366G>T (p.Leu1122=)
c.3291G>T (p.Leu1097=)
1g.16986266C>GCA338232182ATP13A2c.3498G>C (p.Leu1166=)
c.3196G>C (p.Gly1066Arg)
c.3483G>C (p.Leu1161=)
n.1544G>C
c.916G>C (p.Gly306Arg)
c.3328G>C (p.Gly1110Arg)
c.3325G>C (p.Gly1109Arg)
c.3313G>C (p.Gly1105Arg)
c.3301G>C (p.Gly1101Arg)
c.3268G>C (p.Gly1090Arg)
c.3211G>C (p.Gly1071Arg)
c.3310G>C (p.Gly1104Arg)
c.3286G>C (p.Gly1096Arg)
c.3121G>C (p.Gly1041Arg)
c.3480G>C (p.Leu1160=)
c.3456G>C (p.Leu1152=)
c.3453G>C (p.Leu1151=)
c.3381G>C (p.Leu1127=)
c.3366G>C (p.Leu1122=)
c.3291G>C (p.Leu1097=)
1g.16986266C>TCA338232183ATP13A2c.3498G>A (p.Leu1166=)
c.3196G>A (p.Gly1066Ser)
c.3483G>A (p.Leu1161=)
n.1544G>A
c.916G>A (p.Gly306Ser)
c.3328G>A (p.Gly1110Ser)
c.3325G>A (p.Gly1109Ser)
c.3313G>A (p.Gly1105Ser)
c.3301G>A (p.Gly1101Ser)
c.3268G>A (p.Gly1090Ser)
c.3211G>A (p.Gly1071Ser)
c.3310G>A (p.Gly1104Ser)
c.3286G>A (p.Gly1096Ser)
c.3121G>A (p.Gly1041Ser)
c.3480G>A (p.Leu1160=)
c.3456G>A (p.Leu1152=)
c.3453G>A (p.Leu1151=)
c.3381G>A (p.Leu1127=)
c.3366G>A (p.Leu1122=)
c.3291G>A (p.Leu1097=)
1g.16986267A>CCA338232188ATP13A2c.3497T>G (p.Leu1166Arg)
c.3195T>G (p.Ala1065=)
c.3482T>G (p.Leu1161Arg)
n.1543T>G
c.915T>G (p.Ala305=)
c.3327T>G (p.Ala1109=)
c.3324T>G (p.Ala1108=)
c.3312T>G (p.Ala1104=)
c.3300T>G (p.Ala1100=)
c.3267T>G (p.Ala1089=)
c.3210T>G (p.Ala1070=)
c.3309T>G (p.Ala1103=)
c.3285T>G (p.Ala1095=)
c.3120T>G (p.Ala1040=)
c.3479T>G (p.Leu1160Arg)
c.3455T>G (p.Leu1152Arg)
c.3452T>G (p.Leu1151Arg)
c.3380T>G (p.Leu1127Arg)
c.3365T>G (p.Leu1122Arg)
c.3290T>G (p.Leu1097Arg)
1g.16986267A>GCA338232187ATP13A2c.3497T>C (p.Leu1166Pro)
c.3195T>C (p.Ala1065=)
c.3482T>C (p.Leu1161Pro)
n.1543T>C
c.915T>C (p.Ala305=)
c.3327T>C (p.Ala1109=)
c.3324T>C (p.Ala1108=)
c.3312T>C (p.Ala1104=)
c.3300T>C (p.Ala1100=)
c.3267T>C (p.Ala1089=)
c.3210T>C (p.Ala1070=)
c.3309T>C (p.Ala1103=)
c.3285T>C (p.Ala1095=)
c.3120T>C (p.Ala1040=)
c.3479T>C (p.Leu1160Pro)
c.3455T>C (p.Leu1152Pro)
c.3452T>C (p.Leu1151Pro)
c.3380T>C (p.Leu1127Pro)
c.3365T>C (p.Leu1122Pro)
c.3290T>C (p.Leu1097Pro)
 gnomAD v4
1g.16986267A>TCA338232185ATP13A2c.3497T>A (p.Leu1166Gln)
c.3195T>A (p.Ala1065=)
c.3482T>A (p.Leu1161Gln)
n.1543T>A
c.915T>A (p.Ala305=)
c.3327T>A (p.Ala1109=)
c.3324T>A (p.Ala1108=)
c.3312T>A (p.Ala1104=)
c.3300T>A (p.Ala1100=)
c.3267T>A (p.Ala1089=)
c.3210T>A (p.Ala1070=)
c.3309T>A (p.Ala1103=)
c.3285T>A (p.Ala1095=)
c.3120T>A (p.Ala1040=)
c.3479T>A (p.Leu1160Gln)
c.3455T>A (p.Leu1152Gln)
c.3452T>A (p.Leu1151Gln)
c.3380T>A (p.Leu1127Gln)
c.3365T>A (p.Leu1122Gln)
c.3290T>A (p.Leu1097Gln)
1g.16986268G>ACA338232189ATP13A2c.3496C>T (p.Leu1166=)
c.3194C>T (p.Ala1065Val)
c.3481C>T (p.Leu1161=)
n.1542C>T
c.914C>T (p.Ala305Val)
c.3326C>T (p.Ala1109Val)
c.3323C>T (p.Ala1108Val)
c.3311C>T (p.Ala1104Val)
c.3299C>T (p.Ala1100Val)
c.3266C>T (p.Ala1089Val)
c.3209C>T (p.Ala1070Val)
c.3308C>T (p.Ala1103Val)
c.3284C>T (p.Ala1095Val)
c.3119C>T (p.Ala1040Val)
c.3478C>T (p.Leu1160=)
c.3454C>T (p.Leu1152=)
c.3451C>T (p.Leu1151=)
c.3379C>T (p.Leu1127=)
c.3364C>T (p.Leu1122=)
c.3289C>T (p.Leu1097=)
 gnomAD v4
1g.16986268G>CCA636468ATP13A2c.3496C>G (p.Leu1166Val)
c.3194C>G (p.Ala1065Gly)
c.3481C>G (p.Leu1161Val)
n.1542C>G
c.914C>G (p.Ala305Gly)
c.3326C>G (p.Ala1109Gly)
c.3323C>G (p.Ala1108Gly)
c.3311C>G (p.Ala1104Gly)
c.3299C>G (p.Ala1100Gly)
c.3266C>G (p.Ala1089Gly)
c.3209C>G (p.Ala1070Gly)
c.3308C>G (p.Ala1103Gly)
c.3284C>G (p.Ala1095Gly)
c.3119C>G (p.Ala1040Gly)
c.3478C>G (p.Leu1160Val)
c.3454C>G (p.Leu1152Val)
c.3451C>G (p.Leu1151Val)
c.3379C>G (p.Leu1127Val)
c.3364C>G (p.Leu1122Val)
c.3289C>G (p.Leu1097Val)
 dbSNP ExAC gnomAD v2
1g.16986268G=CA1143662222ATP13A2c.3496C= (p.Leu1166=)
c.3194C= (p.Ala1065=)
c.3481C= (p.Leu1161=)
n.1542C=
c.914C= (p.Ala305=)
c.3326C= (p.Ala1109=)
c.3323C= (p.Ala1108=)
c.3311C= (p.Ala1104=)
c.3299C= (p.Ala1100=)
c.3266C= (p.Ala1089=)
c.3209C= (p.Ala1070=)
c.3308C= (p.Ala1103=)
c.3284C= (p.Ala1095=)
c.3119C= (p.Ala1040=)
c.3478C= (p.Leu1160=)
c.3454C= (p.Leu1152=)
c.3451C= (p.Leu1151=)
c.3379C= (p.Leu1127=)
c.3364C= (p.Leu1122=)
c.3289C= (p.Leu1097=)
1g.16986268G>TCA338232190ATP13A2c.3496C>A (p.Leu1166Met)
c.3194C>A (p.Ala1065Asp)
c.3481C>A (p.Leu1161Met)
n.1542C>A
c.914C>A (p.Ala305Asp)
c.3326C>A (p.Ala1109Asp)
c.3323C>A (p.Ala1108Asp)
c.3311C>A (p.Ala1104Asp)
c.3299C>A (p.Ala1100Asp)
c.3266C>A (p.Ala1089Asp)
c.3209C>A (p.Ala1070Asp)
c.3308C>A (p.Ala1103Asp)
c.3284C>A (p.Ala1095Asp)
c.3119C>A (p.Ala1040Asp)
c.3478C>A (p.Leu1160Met)
c.3454C>A (p.Leu1152Met)
c.3451C>A (p.Leu1151Met)
c.3379C>A (p.Leu1127Met)
c.3364C>A (p.Leu1122Met)
c.3289C>A (p.Leu1097Met)
 gnomAD v4
1g.16986269C>ACA338232191ATP13A2c.3495G>T (p.Glu1165Asp)
c.3193G>T (p.Ala1065Ser)
c.3480G>T (p.Glu1160Asp)
n.1541G>T
c.913G>T (p.Ala305Ser)
c.3325G>T (p.Ala1109Ser)
c.3322G>T (p.Ala1108Ser)
c.3310G>T (p.Ala1104Ser)
c.3298G>T (p.Ala1100Ser)
c.3265G>T (p.Ala1089Ser)
c.3208G>T (p.Ala1070Ser)
c.3307G>T (p.Ala1103Ser)
c.3283G>T (p.Ala1095Ser)
c.3118G>T (p.Ala1040Ser)
c.3477G>T (p.Glu1159Asp)
c.3453G>T (p.Glu1151Asp)
c.3450G>T (p.Glu1150Asp)
c.3378G>T (p.Glu1126Asp)
c.3363G>T (p.Glu1121Asp)
c.3288G>T (p.Glu1096Asp)
1g.16986269C=CA1156049388ATP13A2c.3495G= (p.Glu1165=)
c.3193G= (p.Ala1065=)
c.3480G= (p.Glu1160=)
n.1541G=
c.913G= (p.Ala305=)
c.3325G= (p.Ala1109=)
c.3322G= (p.Ala1108=)
c.3310G= (p.Ala1104=)
c.3298G= (p.Ala1100=)
c.3265G= (p.Ala1089=)
c.3208G= (p.Ala1070=)
c.3307G= (p.Ala1103=)
c.3283G= (p.Ala1095=)
c.3118G= (p.Ala1040=)
c.3477G= (p.Glu1159=)
c.3453G= (p.Glu1151=)
c.3450G= (p.Glu1150=)
c.3378G= (p.Glu1126=)
c.3363G= (p.Glu1121=)
c.3288G= (p.Glu1096=)
1g.16986269C>GCA338232194ATP13A2c.3495G>C (p.Glu1165Asp)
c.3193G>C (p.Ala1065Pro)
c.3480G>C (p.Glu1160Asp)
n.1541G>C
c.913G>C (p.Ala305Pro)
c.3325G>C (p.Ala1109Pro)
c.3322G>C (p.Ala1108Pro)
c.3310G>C (p.Ala1104Pro)
c.3298G>C (p.Ala1100Pro)
c.3265G>C (p.Ala1089Pro)
c.3208G>C (p.Ala1070Pro)
c.3307G>C (p.Ala1103Pro)
c.3283G>C (p.Ala1095Pro)
c.3118G>C (p.Ala1040Pro)
c.3477G>C (p.Glu1159Asp)
c.3453G>C (p.Glu1151Asp)
c.3450G>C (p.Glu1150Asp)
c.3378G>C (p.Glu1126Asp)
c.3363G>C (p.Glu1121Asp)
c.3288G>C (p.Glu1096Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.16986269C>TCA338232195ATP13A2c.3495G>A (p.Glu1165=)
c.3193G>A (p.Ala1065Thr)
c.3480G>A (p.Glu1160=)
n.1541G>A
c.913G>A (p.Ala305Thr)
c.3325G>A (p.Ala1109Thr)
c.3322G>A (p.Ala1108Thr)
c.3310G>A (p.Ala1104Thr)
c.3298G>A (p.Ala1100Thr)
c.3265G>A (p.Ala1089Thr)
c.3208G>A (p.Ala1070Thr)
c.3307G>A (p.Ala1103Thr)
c.3283G>A (p.Ala1095Thr)
c.3118G>A (p.Ala1040Thr)
c.3477G>A (p.Glu1159=)
c.3453G>A (p.Glu1151=)
c.3450G>A (p.Glu1150=)
c.3378G>A (p.Glu1126=)
c.3363G>A (p.Glu1121=)
c.3288G>A (p.Glu1096=)
1g.16986270T>ACA338232196ATP13A2c.3494A>T (p.Glu1165Val)
c.3192A>T (p.Arg1064Ser)
c.3479A>T (p.Glu1160Val)
n.1540A>T
c.912A>T (p.Arg304Ser)
c.3324A>T (p.Arg1108Ser)
c.3321A>T (p.Arg1107Ser)
c.3309A>T (p.Arg1103Ser)
c.3297A>T (p.Arg1099Ser)
c.3264A>T (p.Arg1088Ser)
c.3207A>T (p.Arg1069Ser)
c.3306A>T (p.Arg1102Ser)
c.3282A>T (p.Arg1094Ser)
c.3117A>T (p.Arg1039Ser)
c.3476A>T (p.Glu1159Val)
c.3452A>T (p.Glu1151Val)
c.3449A>T (p.Glu1150Val)
c.3377A>T (p.Glu1126Val)
c.3362A>T (p.Glu1121Val)
c.3287A>T (p.Glu1096Val)
1g.16986270T>CCA338232197ATP13A2c.3494A>G (p.Glu1165Gly)
c.3192A>G (p.Arg1064=)
c.3479A>G (p.Glu1160Gly)
n.1540A>G
c.912A>G (p.Arg304=)
c.3324A>G (p.Arg1108=)
c.3321A>G (p.Arg1107=)
c.3309A>G (p.Arg1103=)
c.3297A>G (p.Arg1099=)
c.3264A>G (p.Arg1088=)
c.3207A>G (p.Arg1069=)
c.3306A>G (p.Arg1102=)
c.3282A>G (p.Arg1094=)
c.3117A>G (p.Arg1039=)
c.3476A>G (p.Glu1159Gly)
c.3452A>G (p.Glu1151Gly)
c.3449A>G (p.Glu1150Gly)
c.3377A>G (p.Glu1126Gly)
c.3362A>G (p.Glu1121Gly)
c.3287A>G (p.Glu1096Gly)
 gnomAD v4
1g.16986270T>GCA338232198ATP13A2c.3494A>C (p.Glu1165Ala)
c.3192A>C (p.Arg1064Ser)
c.3479A>C (p.Glu1160Ala)
n.1540A>C
c.912A>C (p.Arg304Ser)
c.3324A>C (p.Arg1108Ser)
c.3321A>C (p.Arg1107Ser)
c.3309A>C (p.Arg1103Ser)
c.3297A>C (p.Arg1099Ser)
c.3264A>C (p.Arg1088Ser)
c.3207A>C (p.Arg1069Ser)
c.3306A>C (p.Arg1102Ser)
c.3282A>C (p.Arg1094Ser)
c.3117A>C (p.Arg1039Ser)
c.3476A>C (p.Glu1159Ala)
c.3452A>C (p.Glu1151Ala)
c.3449A>C (p.Glu1150Ala)
c.3377A>C (p.Glu1126Ala)
c.3362A>C (p.Glu1121Ala)
c.3287A>C (p.Glu1096Ala)
1g.16986271C>ACA338232199ATP13A2c.3493G>T (p.Glu1165Ter)
c.3191G>T (p.Arg1064Ile)
c.3478G>T (p.Glu1160Ter)
n.1539G>T
c.911G>T (p.Arg304Ile)
c.3323G>T (p.Arg1108Ile)
c.3320G>T (p.Arg1107Ile)
c.3308G>T (p.Arg1103Ile)
c.3296G>T (p.Arg1099Ile)
c.3263G>T (p.Arg1088Ile)
c.3206G>T (p.Arg1069Ile)
c.3305G>T (p.Arg1102Ile)
c.3281G>T (p.Arg1094Ile)
c.3116G>T (p.Arg1039Ile)
c.3475G>T (p.Glu1159Ter)
c.3451G>T (p.Glu1151Ter)
c.3448G>T (p.Glu1150Ter)
c.3376G>T (p.Glu1126Ter)
c.3361G>T (p.Glu1121Ter)
c.3286G>T (p.Glu1096Ter)
1g.16986271C=CA1156049395ATP13A2c.3493G= (p.Glu1165=)
c.3191G= (p.Arg1064=)
c.3478G= (p.Glu1160=)
n.1539G=
c.911G= (p.Arg304=)
c.3323G= (p.Arg1108=)
c.3320G= (p.Arg1107=)
c.3308G= (p.Arg1103=)
c.3296G= (p.Arg1099=)
c.3263G= (p.Arg1088=)
c.3206G= (p.Arg1069=)
c.3305G= (p.Arg1102=)
c.3281G= (p.Arg1094=)
c.3116G= (p.Arg1039=)
c.3475G= (p.Glu1159=)
c.3451G= (p.Glu1151=)
c.3448G= (p.Glu1150=)
c.3376G= (p.Glu1126=)
c.3361G= (p.Glu1121=)
c.3286G= (p.Glu1096=)
1g.16986271C>GCA338232200ATP13A2c.3493G>C (p.Glu1165Gln)
c.3191G>C (p.Arg1064Thr)
c.3478G>C (p.Glu1160Gln)
n.1539G>C
c.911G>C (p.Arg304Thr)
c.3323G>C (p.Arg1108Thr)
c.3320G>C (p.Arg1107Thr)
c.3308G>C (p.Arg1103Thr)
c.3296G>C (p.Arg1099Thr)
c.3263G>C (p.Arg1088Thr)
c.3206G>C (p.Arg1069Thr)
c.3305G>C (p.Arg1102Thr)
c.3281G>C (p.Arg1094Thr)
c.3116G>C (p.Arg1039Thr)
c.3475G>C (p.Glu1159Gln)
c.3451G>C (p.Glu1151Gln)
c.3448G>C (p.Glu1150Gln)
c.3376G>C (p.Glu1126Gln)
c.3361G>C (p.Glu1121Gln)
c.3286G>C (p.Glu1096Gln)
1g.16986271C>TCA338232201ATP13A2c.3493G>A (p.Glu1165Lys)
c.3191G>A (p.Arg1064Lys)
c.3478G>A (p.Glu1160Lys)
n.1539G>A
c.911G>A (p.Arg304Lys)
c.3323G>A (p.Arg1108Lys)
c.3320G>A (p.Arg1107Lys)
c.3308G>A (p.Arg1103Lys)
c.3296G>A (p.Arg1099Lys)
c.3263G>A (p.Arg1088Lys)
c.3206G>A (p.Arg1069Lys)
c.3305G>A (p.Arg1102Lys)
c.3281G>A (p.Arg1094Lys)
c.3116G>A (p.Arg1039Lys)
c.3475G>A (p.Glu1159Lys)
c.3451G>A (p.Glu1151Lys)
c.3448G>A (p.Glu1150Lys)
c.3376G>A (p.Glu1126Lys)
c.3361G>A (p.Glu1121Lys)
c.3286G>A (p.Glu1096Lys)
 dbSNP gnomAD v2
1g.16986272T>ACA338232205ATP13A2c.3492A>T (p.Arg1164=)
c.3190A>T (p.Arg1064Ter)
c.3477A>T (p.Arg1159=)
n.1538A>T
c.910A>T (p.Arg304Ter)
c.3322A>T (p.Arg1108Ter)
c.3319A>T (p.Arg1107Ter)
c.3307A>T (p.Arg1103Ter)
c.3295A>T (p.Arg1099Ter)
c.3262A>T (p.Arg1088Ter)
c.3205A>T (p.Arg1069Ter)
c.3304A>T (p.Arg1102Ter)
c.3280A>T (p.Arg1094Ter)
c.3115A>T (p.Arg1039Ter)
c.3474A>T (p.Arg1158=)
c.3450A>T (p.Arg1150=)
c.3447A>T (p.Arg1149=)
c.3375A>T (p.Arg1125=)
c.3360A>T (p.Arg1120=)
c.3285A>T (p.Arg1095=)
1g.16986272T>CCA338232202ATP13A2c.3492A>G (p.Arg1164=)
c.3190A>G (p.Arg1064Gly)
c.3477A>G (p.Arg1159=)
n.1538A>G
c.910A>G (p.Arg304Gly)
c.3322A>G (p.Arg1108Gly)
c.3319A>G (p.Arg1107Gly)
c.3307A>G (p.Arg1103Gly)
c.3295A>G (p.Arg1099Gly)
c.3262A>G (p.Arg1088Gly)
c.3205A>G (p.Arg1069Gly)
c.3304A>G (p.Arg1102Gly)
c.3280A>G (p.Arg1094Gly)
c.3115A>G (p.Arg1039Gly)
c.3474A>G (p.Arg1158=)
c.3450A>G (p.Arg1150=)
c.3447A>G (p.Arg1149=)
c.3375A>G (p.Arg1125=)
c.3360A>G (p.Arg1120=)
c.3285A>G (p.Arg1095=)
 dbSNP gnomAD v2 gnomAD v4
1g.16986272T>GCA416093525ATP13A2c.3492A>C (p.Arg1164=)
c.3190A>C (p.Arg1064=)
c.3477A>C (p.Arg1159=)
n.1538A>C
c.910A>C (p.Arg304=)
c.3322A>C (p.Arg1108=)
c.3319A>C (p.Arg1107=)
c.3307A>C (p.Arg1103=)
c.3295A>C (p.Arg1099=)
c.3262A>C (p.Arg1088=)
c.3205A>C (p.Arg1069=)
c.3304A>C (p.Arg1102=)
c.3280A>C (p.Arg1094=)
c.3115A>C (p.Arg1039=)
c.3474A>C (p.Arg1158=)
c.3450A>C (p.Arg1150=)
c.3447A>C (p.Arg1149=)
c.3375A>C (p.Arg1125=)
c.3360A>C (p.Arg1120=)
c.3285A>C (p.Arg1095=)
1g.16986272T=CA1156049404ATP13A2c.3492A= (p.Arg1164=)
c.3190A= (p.Arg1064=)
c.3477A= (p.Arg1159=)
n.1538A=
c.910A= (p.Arg304=)
c.3322A= (p.Arg1108=)
c.3319A= (p.Arg1107=)
c.3307A= (p.Arg1103=)
c.3295A= (p.Arg1099=)
c.3262A= (p.Arg1088=)
c.3205A= (p.Arg1069=)
c.3304A= (p.Arg1102=)
c.3280A= (p.Arg1094=)
c.3115A= (p.Arg1039=)
c.3474A= (p.Arg1158=)
c.3450A= (p.Arg1150=)
c.3447A= (p.Arg1149=)
c.3375A= (p.Arg1125=)
c.3360A= (p.Arg1120=)
c.3285A= (p.Arg1095=)
1g.16986273C>ACA636469ATP13A2c.3491G>T (p.Arg1164Leu)
c.3189G>T (p.Thr1063=)
c.3476G>T (p.Arg1159Leu)
n.1537G>T
c.909G>T (p.Thr303=)
c.3321G>T (p.Thr1107=)
c.3318G>T (p.Thr1106=)
c.3306G>T (p.Thr1102=)
c.3294G>T (p.Thr1098=)
c.3261G>T (p.Thr1087=)
c.3204G>T (p.Thr1068=)
c.3303G>T (p.Thr1101=)
c.3279G>T (p.Thr1093=)
c.3114G>T (p.Thr1038=)
c.3473G>T (p.Arg1158Leu)
c.3449G>T (p.Arg1150Leu)
c.3446G>T (p.Arg1149Leu)
c.3374G>T (p.Arg1125Leu)
c.3359G>T (p.Arg1120Leu)
c.3284G>T (p.Arg1095Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986273C=CA1156049412ATP13A2c.3491G= (p.Arg1164=)
c.3189G= (p.Thr1063=)
c.3476G= (p.Arg1159=)
n.1537G=
c.909G= (p.Thr303=)
c.3321G= (p.Thr1107=)
c.3318G= (p.Thr1106=)
c.3306G= (p.Thr1102=)
c.3294G= (p.Thr1098=)
c.3261G= (p.Thr1087=)
c.3204G= (p.Thr1068=)
c.3303G= (p.Thr1101=)
c.3279G= (p.Thr1093=)
c.3114G= (p.Thr1038=)
c.3473G= (p.Arg1158=)
c.3449G= (p.Arg1150=)
c.3446G= (p.Arg1149=)
c.3374G= (p.Arg1125=)
c.3359G= (p.Arg1120=)
c.3284G= (p.Arg1095=)
1g.16986273C>GCA338232207ATP13A2c.3491G>C (p.Arg1164Pro)
c.3189G>C (p.Thr1063=)
c.3476G>C (p.Arg1159Pro)
n.1537G>C
c.909G>C (p.Thr303=)
c.3321G>C (p.Thr1107=)
c.3318G>C (p.Thr1106=)
c.3306G>C (p.Thr1102=)
c.3294G>C (p.Thr1098=)
c.3261G>C (p.Thr1087=)
c.3204G>C (p.Thr1068=)
c.3303G>C (p.Thr1101=)
c.3279G>C (p.Thr1093=)
c.3114G>C (p.Thr1038=)
c.3473G>C (p.Arg1158Pro)
c.3449G>C (p.Arg1150Pro)
c.3446G>C (p.Arg1149Pro)
c.3374G>C (p.Arg1125Pro)
c.3359G>C (p.Arg1120Pro)
c.3284G>C (p.Arg1095Pro)
1g.16986273C>TCA338232209ATP13A2c.3491G>A (p.Arg1164Gln)
c.3189G>A (p.Thr1063=)
c.3476G>A (p.Arg1159Gln)
n.1537G>A
c.909G>A (p.Thr303=)
c.3321G>A (p.Thr1107=)
c.3318G>A (p.Thr1106=)
c.3306G>A (p.Thr1102=)
c.3294G>A (p.Thr1098=)
c.3261G>A (p.Thr1087=)
c.3204G>A (p.Thr1068=)
c.3303G>A (p.Thr1101=)
c.3279G>A (p.Thr1093=)
c.3114G>A (p.Thr1038=)
c.3473G>A (p.Arg1158Gln)
c.3449G>A (p.Arg1150Gln)
c.3446G>A (p.Arg1149Gln)
c.3374G>A (p.Arg1125Gln)
c.3359G>A (p.Arg1120Gln)
c.3284G>A (p.Arg1095Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986274G>ACA18624671ATP13A2c.3490C>T (p.Arg1164Ter)
c.3188C>T (p.Thr1063Met)
c.3475C>T (p.Arg1159Ter)
n.1536C>T
c.908C>T (p.Thr303Met)
c.3320C>T (p.Thr1107Met)
c.3317C>T (p.Thr1106Met)
c.3305C>T (p.Thr1102Met)
c.3293C>T (p.Thr1098Met)
c.3260C>T (p.Thr1087Met)
c.3203C>T (p.Thr1068Met)
c.3302C>T (p.Thr1101Met)
c.3278C>T (p.Thr1093Met)
c.3113C>T (p.Thr1038Met)
c.3472C>T (p.Arg1158Ter)
c.3448C>T (p.Arg1150Ter)
c.3445C>T (p.Arg1149Ter)
c.3373C>T (p.Arg1125Ter)
c.3358C>T (p.Arg1120Ter)
c.3283C>T (p.Arg1095Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986274G>CCA338232211ATP13A2c.3490C>G (p.Arg1164Gly)
c.3188C>G (p.Thr1063Arg)
c.3475C>G (p.Arg1159Gly)
n.1536C>G
c.908C>G (p.Thr303Arg)
c.3320C>G (p.Thr1107Arg)
c.3317C>G (p.Thr1106Arg)
c.3305C>G (p.Thr1102Arg)
c.3293C>G (p.Thr1098Arg)
c.3260C>G (p.Thr1087Arg)
c.3203C>G (p.Thr1068Arg)
c.3302C>G (p.Thr1101Arg)
c.3278C>G (p.Thr1093Arg)
c.3113C>G (p.Thr1038Arg)
c.3472C>G (p.Arg1158Gly)
c.3448C>G (p.Arg1150Gly)
c.3445C>G (p.Arg1149Gly)
c.3373C>G (p.Arg1125Gly)
c.3358C>G (p.Arg1120Gly)
c.3283C>G (p.Arg1095Gly)
 gnomAD v4
1g.16986274G=CA1143899420ATP13A2c.3490C= (p.Arg1164=)
c.3188C= (p.Thr1063=)
c.3475C= (p.Arg1159=)
n.1536C=
c.908C= (p.Thr303=)
c.3320C= (p.Thr1107=)
c.3317C= (p.Thr1106=)
c.3305C= (p.Thr1102=)
c.3293C= (p.Thr1098=)
c.3260C= (p.Thr1087=)
c.3203C= (p.Thr1068=)
c.3302C= (p.Thr1101=)
c.3278C= (p.Thr1093=)
c.3113C= (p.Thr1038=)
c.3472C= (p.Arg1158=)
c.3448C= (p.Arg1150=)
c.3445C= (p.Arg1149=)
c.3373C= (p.Arg1125=)
c.3358C= (p.Arg1120=)
c.3283C= (p.Arg1095=)
1g.16986274G>TCA636470ATP13A2c.3490C>A (p.Arg1164=)
c.3188C>A (p.Thr1063Lys)
c.3475C>A (p.Arg1159=)
n.1536C>A
c.908C>A (p.Thr303Lys)
c.3320C>A (p.Thr1107Lys)
c.3317C>A (p.Thr1106Lys)
c.3305C>A (p.Thr1102Lys)
c.3293C>A (p.Thr1098Lys)
c.3260C>A (p.Thr1087Lys)
c.3203C>A (p.Thr1068Lys)
c.3302C>A (p.Thr1101Lys)
c.3278C>A (p.Thr1093Lys)
c.3113C>A (p.Thr1038Lys)
c.3472C>A (p.Arg1158=)
c.3448C>A (p.Arg1150=)
c.3445C>A (p.Arg1149=)
c.3373C>A (p.Arg1125=)
c.3358C>A (p.Arg1120=)
c.3283C>A (p.Arg1095=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986275T>ACA338232216ATP13A2c.3489A>T (p.Glu1163Asp)
c.3187A>T (p.Thr1063Ser)
c.3474A>T (p.Glu1158Asp)
n.1535A>T
c.907A>T (p.Thr303Ser)
c.3319A>T (p.Thr1107Ser)
c.3316A>T (p.Thr1106Ser)
c.3304A>T (p.Thr1102Ser)
c.3292A>T (p.Thr1098Ser)
c.3259A>T (p.Thr1087Ser)
c.3202A>T (p.Thr1068Ser)
c.3301A>T (p.Thr1101Ser)
c.3277A>T (p.Thr1093Ser)
c.3112A>T (p.Thr1038Ser)
c.3471A>T (p.Glu1157Asp)
c.3447A>T (p.Glu1149Asp)
c.3444A>T (p.Glu1148Asp)
c.3372A>T (p.Glu1124Asp)
c.3357A>T (p.Glu1119Asp)
c.3282A>T (p.Glu1094Asp)
1g.16986275T>CCA338232214ATP13A2c.3489A>G (p.Glu1163=)
c.3187A>G (p.Thr1063Ala)
c.3474A>G (p.Glu1158=)
n.1535A>G
c.907A>G (p.Thr303Ala)
c.3319A>G (p.Thr1107Ala)
c.3316A>G (p.Thr1106Ala)
c.3304A>G (p.Thr1102Ala)
c.3292A>G (p.Thr1098Ala)
c.3259A>G (p.Thr1087Ala)
c.3202A>G (p.Thr1068Ala)
c.3301A>G (p.Thr1101Ala)
c.3277A>G (p.Thr1093Ala)
c.3112A>G (p.Thr1038Ala)
c.3471A>G (p.Glu1157=)
c.3447A>G (p.Glu1149=)
c.3444A>G (p.Glu1148=)
c.3372A>G (p.Glu1124=)
c.3357A>G (p.Glu1119=)
c.3282A>G (p.Glu1094=)
1g.16986275T>GCA338232212ATP13A2c.3489A>C (p.Glu1163Asp)
c.3187A>C (p.Thr1063Pro)
c.3474A>C (p.Glu1158Asp)
n.1535A>C
c.907A>C (p.Thr303Pro)
c.3319A>C (p.Thr1107Pro)
c.3316A>C (p.Thr1106Pro)
c.3304A>C (p.Thr1102Pro)
c.3292A>C (p.Thr1098Pro)
c.3259A>C (p.Thr1087Pro)
c.3202A>C (p.Thr1068Pro)
c.3301A>C (p.Thr1101Pro)
c.3277A>C (p.Thr1093Pro)
c.3112A>C (p.Thr1038Pro)
c.3471A>C (p.Glu1157Asp)
c.3447A>C (p.Glu1149Asp)
c.3444A>C (p.Glu1148Asp)
c.3372A>C (p.Glu1124Asp)
c.3357A>C (p.Glu1119Asp)
c.3282A>C (p.Glu1094Asp)
1g.16986276T>ACA338232220ATP13A2c.3488A>T (p.Glu1163Val)
c.3186A>T (p.Gly1062=)
c.3473A>T (p.Glu1158Val)
n.1534A>T
c.906A>T (p.Gly302=)
c.3318A>T (p.Gly1106=)
c.3315A>T (p.Gly1105=)
c.3303A>T (p.Gly1101=)
c.3291A>T (p.Gly1097=)
c.3258A>T (p.Gly1086=)
c.3201A>T (p.Gly1067=)
c.3300A>T (p.Gly1100=)
c.3276A>T (p.Gly1092=)
c.3111A>T (p.Gly1037=)
c.3470A>T (p.Glu1157Val)
c.3446A>T (p.Glu1149Val)
c.3443A>T (p.Glu1148Val)
c.3371A>T (p.Glu1124Val)
c.3356A>T (p.Glu1119Val)
c.3281A>T (p.Glu1094Val)
1g.16986276T>CCA338232224ATP13A2c.3488A>G (p.Glu1163Gly)
c.3186A>G (p.Gly1062=)
c.3473A>G (p.Glu1158Gly)
n.1534A>G
c.906A>G (p.Gly302=)
c.3318A>G (p.Gly1106=)
c.3315A>G (p.Gly1105=)
c.3303A>G (p.Gly1101=)
c.3291A>G (p.Gly1097=)
c.3258A>G (p.Gly1086=)
c.3201A>G (p.Gly1067=)
c.3300A>G (p.Gly1100=)
c.3276A>G (p.Gly1092=)
c.3111A>G (p.Gly1037=)
c.3470A>G (p.Glu1157Gly)
c.3446A>G (p.Glu1149Gly)
c.3443A>G (p.Glu1148Gly)
c.3371A>G (p.Glu1124Gly)
c.3356A>G (p.Glu1119Gly)
c.3281A>G (p.Glu1094Gly)
1g.16986276T>GCA338232227ATP13A2c.3488A>C (p.Glu1163Ala)
c.3186A>C (p.Gly1062=)
c.3473A>C (p.Glu1158Ala)
n.1534A>C
c.906A>C (p.Gly302=)
c.3318A>C (p.Gly1106=)
c.3315A>C (p.Gly1105=)
c.3303A>C (p.Gly1101=)
c.3291A>C (p.Gly1097=)
c.3258A>C (p.Gly1086=)
c.3201A>C (p.Gly1067=)
c.3300A>C (p.Gly1100=)
c.3276A>C (p.Gly1092=)
c.3111A>C (p.Gly1037=)
c.3470A>C (p.Glu1157Ala)
c.3446A>C (p.Glu1149Ala)
c.3443A>C (p.Glu1148Ala)
c.3371A>C (p.Glu1124Ala)
c.3356A>C (p.Glu1119Ala)
c.3281A>C (p.Glu1094Ala)
1g.16986277C>ACA338232230ATP13A2c.3487G>T (p.Glu1163Ter)
c.3185G>T (p.Gly1062Val)
c.3472G>T (p.Glu1158Ter)
n.1533G>T
c.905G>T (p.Gly302Val)
c.3317G>T (p.Gly1106Val)
c.3314G>T (p.Gly1105Val)
c.3302G>T (p.Gly1101Val)
c.3290G>T (p.Gly1097Val)
c.3257G>T (p.Gly1086Val)
c.3200G>T (p.Gly1067Val)
c.3299G>T (p.Gly1100Val)
c.3275G>T (p.Gly1092Val)
c.3110G>T (p.Gly1037Val)
c.3469G>T (p.Glu1157Ter)
c.3445G>T (p.Glu1149Ter)
c.3442G>T (p.Glu1148Ter)
c.3370G>T (p.Glu1124Ter)
c.3355G>T (p.Glu1119Ter)
c.3280G>T (p.Glu1094Ter)
 gnomAD v4
1g.16986277C>GCA338232239ATP13A2c.3487G>C (p.Glu1163Gln)
c.3185G>C (p.Gly1062Ala)
c.3472G>C (p.Glu1158Gln)
n.1533G>C
c.905G>C (p.Gly302Ala)
c.3317G>C (p.Gly1106Ala)
c.3314G>C (p.Gly1105Ala)
c.3302G>C (p.Gly1101Ala)
c.3290G>C (p.Gly1097Ala)
c.3257G>C (p.Gly1086Ala)
c.3200G>C (p.Gly1067Ala)
c.3299G>C (p.Gly1100Ala)
c.3275G>C (p.Gly1092Ala)
c.3110G>C (p.Gly1037Ala)
c.3469G>C (p.Glu1157Gln)
c.3445G>C (p.Glu1149Gln)
c.3442G>C (p.Glu1148Gln)
c.3370G>C (p.Glu1124Gln)
c.3355G>C (p.Glu1119Gln)
c.3280G>C (p.Glu1094Gln)
1g.16986277C>TCA338232241ATP13A2c.3487G>A (p.Glu1163Lys)
c.3185G>A (p.Gly1062Glu)
c.3472G>A (p.Glu1158Lys)
n.1533G>A
c.905G>A (p.Gly302Glu)
c.3317G>A (p.Gly1106Glu)
c.3314G>A (p.Gly1105Glu)
c.3302G>A (p.Gly1101Glu)
c.3290G>A (p.Gly1097Glu)
c.3257G>A (p.Gly1086Glu)
c.3200G>A (p.Gly1067Glu)
c.3299G>A (p.Gly1100Glu)
c.3275G>A (p.Gly1092Glu)
c.3110G>A (p.Gly1037Glu)
c.3469G>A (p.Glu1157Lys)
c.3445G>A (p.Glu1149Lys)
c.3442G>A (p.Glu1148Lys)
c.3370G>A (p.Glu1124Lys)
c.3355G>A (p.Glu1119Lys)
c.3280G>A (p.Glu1094Lys)
1g.16986278C>ACA338232243ATP13A2c.3486G>T (p.Leu1162=)
c.3184G>T (p.Gly1062Ter)
c.3471G>T (p.Leu1157=)
n.1532G>T
c.904G>T (p.Gly302Ter)
c.3316G>T (p.Gly1106Ter)
c.3313G>T (p.Gly1105Ter)
c.3301G>T (p.Gly1101Ter)
c.3289G>T (p.Gly1097Ter)
c.3256G>T (p.Gly1086Ter)
c.3199G>T (p.Gly1067Ter)
c.3298G>T (p.Gly1100Ter)
c.3274G>T (p.Gly1092Ter)
c.3109G>T (p.Gly1037Ter)
c.3468G>T (p.Leu1156=)
c.3444G>T (p.Leu1148=)
c.3441G>T (p.Leu1147=)
c.3369G>T (p.Leu1123=)
c.3354G>T (p.Leu1118=)
c.3279G>T (p.Leu1093=)
1g.16986278C>GCA338232245ATP13A2c.3486G>C (p.Leu1162=)
c.3184G>C (p.Gly1062Arg)
c.3471G>C (p.Leu1157=)
n.1532G>C
c.904G>C (p.Gly302Arg)
c.3316G>C (p.Gly1106Arg)
c.3313G>C (p.Gly1105Arg)
c.3301G>C (p.Gly1101Arg)
c.3289G>C (p.Gly1097Arg)
c.3256G>C (p.Gly1086Arg)
c.3199G>C (p.Gly1067Arg)
c.3298G>C (p.Gly1100Arg)
c.3274G>C (p.Gly1092Arg)
c.3109G>C (p.Gly1037Arg)
c.3468G>C (p.Leu1156=)
c.3444G>C (p.Leu1148=)
c.3441G>C (p.Leu1147=)
c.3369G>C (p.Leu1123=)
c.3354G>C (p.Leu1118=)
c.3279G>C (p.Leu1093=)
1g.16986278C>TCA338232244ATP13A2c.3486G>A (p.Leu1162=)
c.3184G>A (p.Gly1062Arg)
c.3471G>A (p.Leu1157=)
n.1532G>A
c.904G>A (p.Gly302Arg)
c.3316G>A (p.Gly1106Arg)
c.3313G>A (p.Gly1105Arg)
c.3301G>A (p.Gly1101Arg)
c.3289G>A (p.Gly1097Arg)
c.3256G>A (p.Gly1086Arg)
c.3199G>A (p.Gly1067Arg)
c.3298G>A (p.Gly1100Arg)
c.3274G>A (p.Gly1092Arg)
c.3109G>A (p.Gly1037Arg)
c.3468G>A (p.Leu1156=)
c.3444G>A (p.Leu1148=)
c.3441G>A (p.Leu1147=)
c.3369G>A (p.Leu1123=)
c.3354G>A (p.Leu1118=)
c.3279G>A (p.Leu1093=)
1g.16986279A>CCA338232246ATP13A2c.3485T>G (p.Leu1162Arg)
c.3183T>G (p.Ala1061=)
c.3470T>G (p.Leu1157Arg)
n.1531T>G
c.903T>G (p.Ala301=)
c.3315T>G (p.Ala1105=)
c.3312T>G (p.Ala1104=)
c.3300T>G (p.Ala1100=)
c.3288T>G (p.Ala1096=)
c.3255T>G (p.Ala1085=)
c.3198T>G (p.Ala1066=)
c.3297T>G (p.Ala1099=)
c.3273T>G (p.Ala1091=)
c.3108T>G (p.Ala1036=)
c.3467T>G (p.Leu1156Arg)
c.3443T>G (p.Leu1148Arg)
c.3440T>G (p.Leu1147Arg)
c.3368T>G (p.Leu1123Arg)
c.3353T>G (p.Leu1118Arg)
c.3278T>G (p.Leu1093Arg)
1g.16986279A>GCA338232247ATP13A2c.3485T>C (p.Leu1162Pro)
c.3183T>C (p.Ala1061=)
c.3470T>C (p.Leu1157Pro)
n.1531T>C
c.903T>C (p.Ala301=)
c.3315T>C (p.Ala1105=)
c.3312T>C (p.Ala1104=)
c.3300T>C (p.Ala1100=)
c.3288T>C (p.Ala1096=)
c.3255T>C (p.Ala1085=)
c.3198T>C (p.Ala1066=)
c.3297T>C (p.Ala1099=)
c.3273T>C (p.Ala1091=)
c.3108T>C (p.Ala1036=)
c.3467T>C (p.Leu1156Pro)
c.3443T>C (p.Leu1148Pro)
c.3440T>C (p.Leu1147Pro)
c.3368T>C (p.Leu1123Pro)
c.3353T>C (p.Leu1118Pro)
c.3278T>C (p.Leu1093Pro)
1g.16986279A>TCA338232248ATP13A2c.3485T>A (p.Leu1162Gln)
c.3183T>A (p.Ala1061=)
c.3470T>A (p.Leu1157Gln)
n.1531T>A
c.903T>A (p.Ala301=)
c.3315T>A (p.Ala1105=)
c.3312T>A (p.Ala1104=)
c.3300T>A (p.Ala1100=)
c.3288T>A (p.Ala1096=)
c.3255T>A (p.Ala1085=)
c.3198T>A (p.Ala1066=)
c.3297T>A (p.Ala1099=)
c.3273T>A (p.Ala1091=)
c.3108T>A (p.Ala1036=)
c.3467T>A (p.Leu1156Gln)
c.3443T>A (p.Leu1148Gln)
c.3440T>A (p.Leu1147Gln)
c.3368T>A (p.Leu1123Gln)
c.3353T>A (p.Leu1118Gln)
c.3278T>A (p.Leu1093Gln)
 gnomAD v4
1g.16986280G>ACA338232249ATP13A2c.3484C>T (p.Leu1162=)
c.3182C>T (p.Ala1061Val)
c.3469C>T (p.Leu1157=)
n.1530C>T
c.902C>T (p.Ala301Val)
c.3314C>T (p.Ala1105Val)
c.3311C>T (p.Ala1104Val)
c.3299C>T (p.Ala1100Val)
c.3287C>T (p.Ala1096Val)
c.3254C>T (p.Ala1085Val)
c.3197C>T (p.Ala1066Val)
c.3296C>T (p.Ala1099Val)
c.3272C>T (p.Ala1091Val)
c.3107C>T (p.Ala1036Val)
c.3466C>T (p.Leu1156=)
c.3442C>T (p.Leu1148=)
c.3439C>T (p.Leu1147=)
c.3367C>T (p.Leu1123=)
c.3352C>T (p.Leu1118=)
c.3277C>T (p.Leu1093=)
1g.16986280G>CCA338232251ATP13A2c.3484C>G (p.Leu1162Val)
c.3182C>G (p.Ala1061Gly)
c.3469C>G (p.Leu1157Val)
n.1530C>G
c.902C>G (p.Ala301Gly)
c.3314C>G (p.Ala1105Gly)
c.3311C>G (p.Ala1104Gly)
c.3299C>G (p.Ala1100Gly)
c.3287C>G (p.Ala1096Gly)
c.3254C>G (p.Ala1085Gly)
c.3197C>G (p.Ala1066Gly)
c.3296C>G (p.Ala1099Gly)
c.3272C>G (p.Ala1091Gly)
c.3107C>G (p.Ala1036Gly)
c.3466C>G (p.Leu1156Val)
c.3442C>G (p.Leu1148Val)
c.3439C>G (p.Leu1147Val)
c.3367C>G (p.Leu1123Val)
c.3352C>G (p.Leu1118Val)
c.3277C>G (p.Leu1093Val)
1g.16986280G>TCA338232252ATP13A2c.3484C>A (p.Leu1162Met)
c.3182C>A (p.Ala1061Asp)
c.3469C>A (p.Leu1157Met)
n.1530C>A
c.902C>A (p.Ala301Asp)
c.3314C>A (p.Ala1105Asp)
c.3311C>A (p.Ala1104Asp)
c.3299C>A (p.Ala1100Asp)
c.3287C>A (p.Ala1096Asp)
c.3254C>A (p.Ala1085Asp)
c.3197C>A (p.Ala1066Asp)
c.3296C>A (p.Ala1099Asp)
c.3272C>A (p.Ala1091Asp)
c.3107C>A (p.Ala1036Asp)
c.3466C>A (p.Leu1156Met)
c.3442C>A (p.Leu1148Met)
c.3439C>A (p.Leu1147Met)
c.3367C>A (p.Leu1123Met)
c.3352C>A (p.Leu1118Met)
c.3277C>A (p.Leu1093Met)
 gnomAD v4
1g.16986281C>ACA338232254ATP13A2c.3483G>T (p.Gln1161His)
c.3181G>T (p.Ala1061Ser)
c.3468G>T (p.Gln1156His)
n.1529G>T
c.901G>T (p.Ala301Ser)
c.3313G>T (p.Ala1105Ser)
c.3310G>T (p.Ala1104Ser)
c.3298G>T (p.Ala1100Ser)
c.3286G>T (p.Ala1096Ser)
c.3253G>T (p.Ala1085Ser)
c.3196G>T (p.Ala1066Ser)
c.3295G>T (p.Ala1099Ser)
c.3271G>T (p.Ala1091Ser)
c.3106G>T (p.Ala1036Ser)
c.3465G>T (p.Gln1155His)
c.3441G>T (p.Gln1147His)
c.3438G>T (p.Gln1146His)
c.3366G>T (p.Gln1122His)
c.3351G>T (p.Gln1117His)
c.3276G>T (p.Gln1092His)
 gnomAD v4
1g.16986281C=CA1156049425ATP13A2c.3483G= (p.Gln1161=)
c.3181G= (p.Ala1061=)
c.3468G= (p.Gln1156=)
n.1529G=
c.901G= (p.Ala301=)
c.3313G= (p.Ala1105=)
c.3310G= (p.Ala1104=)
c.3298G= (p.Ala1100=)
c.3286G= (p.Ala1096=)
c.3253G= (p.Ala1085=)
c.3196G= (p.Ala1066=)
c.3295G= (p.Ala1099=)
c.3271G= (p.Ala1091=)
c.3106G= (p.Ala1036=)
c.3465G= (p.Gln1155=)
c.3441G= (p.Gln1147=)
c.3438G= (p.Gln1146=)
c.3366G= (p.Gln1122=)
c.3351G= (p.Gln1117=)
c.3276G= (p.Gln1092=)
1g.16986281C>GCA636471ATP13A2c.3483G>C (p.Gln1161His)
c.3181G>C (p.Ala1061Pro)
c.3468G>C (p.Gln1156His)
n.1529G>C
c.901G>C (p.Ala301Pro)
c.3313G>C (p.Ala1105Pro)
c.3310G>C (p.Ala1104Pro)
c.3298G>C (p.Ala1100Pro)
c.3286G>C (p.Ala1096Pro)
c.3253G>C (p.Ala1085Pro)
c.3196G>C (p.Ala1066Pro)
c.3295G>C (p.Ala1099Pro)
c.3271G>C (p.Ala1091Pro)
c.3106G>C (p.Ala1036Pro)
c.3465G>C (p.Gln1155His)
c.3441G>C (p.Gln1147His)
c.3438G>C (p.Gln1146His)
c.3366G>C (p.Gln1122His)
c.3351G>C (p.Gln1117His)
c.3276G>C (p.Gln1092His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986281C>TCA338232255ATP13A2c.3483G>A (p.Gln1161=)
c.3181G>A (p.Ala1061Thr)
c.3468G>A (p.Gln1156=)
n.1529G>A
c.901G>A (p.Ala301Thr)
c.3313G>A (p.Ala1105Thr)
c.3310G>A (p.Ala1104Thr)
c.3298G>A (p.Ala1100Thr)
c.3286G>A (p.Ala1096Thr)
c.3253G>A (p.Ala1085Thr)
c.3196G>A (p.Ala1066Thr)
c.3295G>A (p.Ala1099Thr)
c.3271G>A (p.Ala1091Thr)
c.3106G>A (p.Ala1036Thr)
c.3465G>A (p.Gln1155=)
c.3441G>A (p.Gln1147=)
c.3438G>A (p.Gln1146=)
c.3366G>A (p.Gln1122=)
c.3351G>A (p.Gln1117=)
c.3276G>A (p.Gln1092=)
 gnomAD v4
1g.16986282T>ACA338232258ATP13A2c.3482A>T (p.Gln1161Leu)
c.3180A>T (p.Ala1060=)
c.3467A>T (p.Gln1156Leu)
n.1528A>T
c.900A>T (p.Ala300=)
c.3312A>T (p.Ala1104=)
c.3309A>T (p.Ala1103=)
c.3297A>T (p.Ala1099=)
c.3285A>T (p.Ala1095=)
c.3252A>T (p.Ala1084=)
c.3195A>T (p.Ala1065=)
c.3294A>T (p.Ala1098=)
c.3270A>T (p.Ala1090=)
c.3105A>T (p.Ala1035=)
c.3464A>T (p.Gln1155Leu)
c.3440A>T (p.Gln1147Leu)
c.3437A>T (p.Gln1146Leu)
c.3365A>T (p.Gln1122Leu)
c.3350A>T (p.Gln1117Leu)
c.3275A>T (p.Gln1092Leu)
1g.16986282T>CCA338232260ATP13A2c.3482A>G (p.Gln1161Arg)
c.3180A>G (p.Ala1060=)
c.3467A>G (p.Gln1156Arg)
n.1528A>G
c.900A>G (p.Ala300=)
c.3312A>G (p.Ala1104=)
c.3309A>G (p.Ala1103=)
c.3297A>G (p.Ala1099=)
c.3285A>G (p.Ala1095=)
c.3252A>G (p.Ala1084=)
c.3195A>G (p.Ala1065=)
c.3294A>G (p.Ala1098=)
c.3270A>G (p.Ala1090=)
c.3105A>G (p.Ala1035=)
c.3464A>G (p.Gln1155Arg)
c.3440A>G (p.Gln1147Arg)
c.3437A>G (p.Gln1146Arg)
c.3365A>G (p.Gln1122Arg)
c.3350A>G (p.Gln1117Arg)
c.3275A>G (p.Gln1092Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986282T>GCA338232261ATP13A2c.3482A>C (p.Gln1161Pro)
c.3180A>C (p.Ala1060=)
c.3467A>C (p.Gln1156Pro)
n.1528A>C
c.900A>C (p.Ala300=)
c.3312A>C (p.Ala1104=)
c.3309A>C (p.Ala1103=)
c.3297A>C (p.Ala1099=)
c.3285A>C (p.Ala1095=)
c.3252A>C (p.Ala1084=)
c.3195A>C (p.Ala1065=)
c.3294A>C (p.Ala1098=)
c.3270A>C (p.Ala1090=)
c.3105A>C (p.Ala1035=)
c.3464A>C (p.Gln1155Pro)
c.3440A>C (p.Gln1147Pro)
c.3437A>C (p.Gln1146Pro)
c.3365A>C (p.Gln1122Pro)
c.3350A>C (p.Gln1117Pro)
c.3275A>C (p.Gln1092Pro)
1g.16986282T=CA1156049434ATP13A2c.3482A= (p.Gln1161=)
c.3180A= (p.Ala1060=)
c.3467A= (p.Gln1156=)
n.1528A=
c.900A= (p.Ala300=)
c.3312A= (p.Ala1104=)
c.3309A= (p.Ala1103=)
c.3297A= (p.Ala1099=)
c.3285A= (p.Ala1095=)
c.3252A= (p.Ala1084=)
c.3195A= (p.Ala1065=)
c.3294A= (p.Ala1098=)
c.3270A= (p.Ala1090=)
c.3105A= (p.Ala1035=)
c.3464A= (p.Gln1155=)
c.3440A= (p.Gln1147=)
c.3437A= (p.Gln1146=)
c.3365A= (p.Gln1122=)
c.3350A= (p.Gln1117=)
c.3275A= (p.Gln1092=)
1g.16986283G>ACA338232265ATP13A2c.3481C>T (p.Gln1161Ter)
c.3179C>T (p.Ala1060Val)
c.3466C>T (p.Gln1156Ter)
n.1527C>T
c.899C>T (p.Ala300Val)
c.3311C>T (p.Ala1104Val)
c.3308C>T (p.Ala1103Val)
c.3296C>T (p.Ala1099Val)
c.3284C>T (p.Ala1095Val)
c.3251C>T (p.Ala1084Val)
c.3194C>T (p.Ala1065Val)
c.3293C>T (p.Ala1098Val)
c.3269C>T (p.Ala1090Val)
c.3104C>T (p.Ala1035Val)
c.3463C>T (p.Gln1155Ter)
c.3439C>T (p.Gln1147Ter)
c.3436C>T (p.Gln1146Ter)
c.3364C>T (p.Gln1122Ter)
c.3349C>T (p.Gln1117Ter)
c.3274C>T (p.Gln1092Ter)
 gnomAD v4
1g.16986283G>CCA338232267ATP13A2c.3481C>G (p.Gln1161Glu)
c.3179C>G (p.Ala1060Gly)
c.3466C>G (p.Gln1156Glu)
n.1527C>G
c.899C>G (p.Ala300Gly)
c.3311C>G (p.Ala1104Gly)
c.3308C>G (p.Ala1103Gly)
c.3296C>G (p.Ala1099Gly)
c.3284C>G (p.Ala1095Gly)
c.3251C>G (p.Ala1084Gly)
c.3194C>G (p.Ala1065Gly)
c.3293C>G (p.Ala1098Gly)
c.3269C>G (p.Ala1090Gly)
c.3104C>G (p.Ala1035Gly)
c.3463C>G (p.Gln1155Glu)
c.3439C>G (p.Gln1147Glu)
c.3436C>G (p.Gln1146Glu)
c.3364C>G (p.Gln1122Glu)
c.3349C>G (p.Gln1117Glu)
c.3274C>G (p.Gln1092Glu)
1g.16986283G=CA1156049442ATP13A2c.3481C= (p.Gln1161=)
c.3179C= (p.Ala1060=)
c.3466C= (p.Gln1156=)
n.1527C=
c.899C= (p.Ala300=)
c.3311C= (p.Ala1104=)
c.3308C= (p.Ala1103=)
c.3296C= (p.Ala1099=)
c.3284C= (p.Ala1095=)
c.3251C= (p.Ala1084=)
c.3194C= (p.Ala1065=)
c.3293C= (p.Ala1098=)
c.3269C= (p.Ala1090=)
c.3104C= (p.Ala1035=)
c.3463C= (p.Gln1155=)
c.3439C= (p.Gln1147=)
c.3436C= (p.Gln1146=)
c.3364C= (p.Gln1122=)
c.3349C= (p.Gln1117=)
c.3274C= (p.Gln1092=)
1g.16986283G>TCA338232266ATP13A2c.3481C>A (p.Gln1161Lys)
c.3179C>A (p.Ala1060Glu)
c.3466C>A (p.Gln1156Lys)
n.1527C>A
c.899C>A (p.Ala300Glu)
c.3311C>A (p.Ala1104Glu)
c.3308C>A (p.Ala1103Glu)
c.3296C>A (p.Ala1099Glu)
c.3284C>A (p.Ala1095Glu)
c.3251C>A (p.Ala1084Glu)
c.3194C>A (p.Ala1065Glu)
c.3293C>A (p.Ala1098Glu)
c.3269C>A (p.Ala1090Glu)
c.3104C>A (p.Ala1035Glu)
c.3463C>A (p.Gln1155Lys)
c.3439C>A (p.Gln1147Lys)
c.3436C>A (p.Gln1146Lys)
c.3364C>A (p.Gln1122Lys)
c.3349C>A (p.Gln1117Lys)
c.3274C>A (p.Gln1092Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.16986284C>ACA338232270ATP13A2c.3480G>T (p.Lys1160Asn)
c.3178G>T (p.Ala1060Ser)
c.3465G>T (p.Lys1155Asn)
n.1526G>T
c.898G>T (p.Ala300Ser)
c.3310G>T (p.Ala1104Ser)
c.3307G>T (p.Ala1103Ser)
c.3295G>T (p.Ala1099Ser)
c.3283G>T (p.Ala1095Ser)
c.3250G>T (p.Ala1084Ser)
c.3193G>T (p.Ala1065Ser)
c.3292G>T (p.Ala1098Ser)
c.3268G>T (p.Ala1090Ser)
c.3103G>T (p.Ala1035Ser)
c.3462G>T (p.Lys1154Asn)
c.3438G>T (p.Lys1146Asn)
c.3435G>T (p.Lys1145Asn)
c.3363G>T (p.Lys1121Asn)
c.3348G>T (p.Lys1116Asn)
c.3273G>T (p.Lys1091Asn)
1g.16986284C>GCA338232279ATP13A2c.3480G>C (p.Lys1160Asn)
c.3178G>C (p.Ala1060Pro)
c.3465G>C (p.Lys1155Asn)
n.1526G>C
c.898G>C (p.Ala300Pro)
c.3310G>C (p.Ala1104Pro)
c.3307G>C (p.Ala1103Pro)
c.3295G>C (p.Ala1099Pro)
c.3283G>C (p.Ala1095Pro)
c.3250G>C (p.Ala1084Pro)
c.3193G>C (p.Ala1065Pro)
c.3292G>C (p.Ala1098Pro)
c.3268G>C (p.Ala1090Pro)
c.3103G>C (p.Ala1035Pro)
c.3462G>C (p.Lys1154Asn)
c.3438G>C (p.Lys1146Asn)
c.3435G>C (p.Lys1145Asn)
c.3363G>C (p.Lys1121Asn)
c.3348G>C (p.Lys1116Asn)
c.3273G>C (p.Lys1091Asn)
1g.16986284C>TCA338232282ATP13A2c.3480G>A (p.Lys1160=)
c.3178G>A (p.Ala1060Thr)
c.3465G>A (p.Lys1155=)
n.1526G>A
c.898G>A (p.Ala300Thr)
c.3310G>A (p.Ala1104Thr)
c.3307G>A (p.Ala1103Thr)
c.3295G>A (p.Ala1099Thr)
c.3283G>A (p.Ala1095Thr)
c.3250G>A (p.Ala1084Thr)
c.3193G>A (p.Ala1065Thr)
c.3292G>A (p.Ala1098Thr)
c.3268G>A (p.Ala1090Thr)
c.3103G>A (p.Ala1035Thr)
c.3462G>A (p.Lys1154=)
c.3438G>A (p.Lys1146=)
c.3435G>A (p.Lys1145=)
c.3363G>A (p.Lys1121=)
c.3348G>A (p.Lys1116=)
c.3273G>A (p.Lys1091=)
 gnomAD v4
1g.16986285T>ACA338232285ATP13A2c.3479A>T (p.Lys1160Met)
c.3177A>T (p.Gln1059His)
c.3464A>T (p.Lys1155Met)
n.1525A>T
c.897A>T (p.Gln299His)
c.3309A>T (p.Gln1103His)
c.3306A>T (p.Gln1102His)
c.3294A>T (p.Gln1098His)
c.3282A>T (p.Gln1094His)
c.3249A>T (p.Gln1083His)
c.3192A>T (p.Gln1064His)
c.3291A>T (p.Gln1097His)
c.3267A>T (p.Gln1089His)
c.3102A>T (p.Gln1034His)
c.3461A>T (p.Lys1154Met)
c.3437A>T (p.Lys1146Met)
c.3434A>T (p.Lys1145Met)
c.3362A>T (p.Lys1121Met)
c.3347A>T (p.Lys1116Met)
c.3272A>T (p.Lys1091Met)
 gnomAD v4
1g.16986285T>CCA338232286ATP13A2c.3479A>G (p.Lys1160Arg)
c.3177A>G (p.Gln1059=)
c.3464A>G (p.Lys1155Arg)
n.1525A>G
c.897A>G (p.Gln299=)
c.3309A>G (p.Gln1103=)
c.3306A>G (p.Gln1102=)
c.3294A>G (p.Gln1098=)
c.3282A>G (p.Gln1094=)
c.3249A>G (p.Gln1083=)
c.3192A>G (p.Gln1064=)
c.3291A>G (p.Gln1097=)
c.3267A>G (p.Gln1089=)
c.3102A>G (p.Gln1034=)
c.3461A>G (p.Lys1154Arg)
c.3437A>G (p.Lys1146Arg)
c.3434A>G (p.Lys1145Arg)
c.3362A>G (p.Lys1121Arg)
c.3347A>G (p.Lys1116Arg)
c.3272A>G (p.Lys1091Arg)
1g.16986285T>GCA338232290ATP13A2c.3479A>C (p.Lys1160Thr)
c.3177A>C (p.Gln1059His)
c.3464A>C (p.Lys1155Thr)
n.1525A>C
c.897A>C (p.Gln299His)
c.3309A>C (p.Gln1103His)
c.3306A>C (p.Gln1102His)
c.3294A>C (p.Gln1098His)
c.3282A>C (p.Gln1094His)
c.3249A>C (p.Gln1083His)
c.3192A>C (p.Gln1064His)
c.3291A>C (p.Gln1097His)
c.3267A>C (p.Gln1089His)
c.3102A>C (p.Gln1034His)
c.3461A>C (p.Lys1154Thr)
c.3437A>C (p.Lys1146Thr)
c.3434A>C (p.Lys1145Thr)
c.3362A>C (p.Lys1121Thr)
c.3347A>C (p.Lys1116Thr)
c.3272A>C (p.Lys1091Thr)
1g.16986286T>ACA338232292ATP13A2c.3478A>T (p.Lys1160Ter)
c.3176A>T (p.Gln1059Leu)
c.3463A>T (p.Lys1155Ter)
n.1524A>T
c.896A>T (p.Gln299Leu)
c.3308A>T (p.Gln1103Leu)
c.3305A>T (p.Gln1102Leu)
c.3293A>T (p.Gln1098Leu)
c.3281A>T (p.Gln1094Leu)
c.3248A>T (p.Gln1083Leu)
c.3191A>T (p.Gln1064Leu)
c.3290A>T (p.Gln1097Leu)
c.3266A>T (p.Gln1089Leu)
c.3101A>T (p.Gln1034Leu)
c.3460A>T (p.Lys1154Ter)
c.3436A>T (p.Lys1146Ter)
c.3433A>T (p.Lys1145Ter)
c.3361A>T (p.Lys1121Ter)
c.3346A>T (p.Lys1116Ter)
c.3271A>T (p.Lys1091Ter)
1g.16986286T>CCA338232294ATP13A2c.3478A>G (p.Lys1160Glu)
c.3176A>G (p.Gln1059Arg)
c.3463A>G (p.Lys1155Glu)
n.1524A>G
c.896A>G (p.Gln299Arg)
c.3308A>G (p.Gln1103Arg)
c.3305A>G (p.Gln1102Arg)
c.3293A>G (p.Gln1098Arg)
c.3281A>G (p.Gln1094Arg)
c.3248A>G (p.Gln1083Arg)
c.3191A>G (p.Gln1064Arg)
c.3290A>G (p.Gln1097Arg)
c.3266A>G (p.Gln1089Arg)
c.3101A>G (p.Gln1034Arg)
c.3460A>G (p.Lys1154Glu)
c.3436A>G (p.Lys1146Glu)
c.3433A>G (p.Lys1145Glu)
c.3361A>G (p.Lys1121Glu)
c.3346A>G (p.Lys1116Glu)
c.3271A>G (p.Lys1091Glu)
1g.16986286T>GCA338232295ATP13A2c.3478A>C (p.Lys1160Gln)
c.3176A>C (p.Gln1059Pro)
c.3463A>C (p.Lys1155Gln)
n.1524A>C
c.896A>C (p.Gln299Pro)
c.3308A>C (p.Gln1103Pro)
c.3305A>C (p.Gln1102Pro)
c.3293A>C (p.Gln1098Pro)
c.3281A>C (p.Gln1094Pro)
c.3248A>C (p.Gln1083Pro)
c.3191A>C (p.Gln1064Pro)
c.3290A>C (p.Gln1097Pro)
c.3266A>C (p.Gln1089Pro)
c.3101A>C (p.Gln1034Pro)
c.3460A>C (p.Lys1154Gln)
c.3436A>C (p.Lys1146Gln)
c.3433A>C (p.Lys1145Gln)
c.3361A>C (p.Lys1121Gln)
c.3346A>C (p.Lys1116Gln)
c.3271A>C (p.Lys1091Gln)
1g.16986287G>ACA338232297ATP13A2c.3477C>T (p.Phe1159=)
c.3175C>T (p.Gln1059Ter)
c.3462C>T (p.Phe1154=)
n.1523C>T
c.895C>T (p.Gln299Ter)
c.3307C>T (p.Gln1103Ter)
c.3304C>T (p.Gln1102Ter)
c.3292C>T (p.Gln1098Ter)
c.3280C>T (p.Gln1094Ter)
c.3247C>T (p.Gln1083Ter)
c.3190C>T (p.Gln1064Ter)
c.3289C>T (p.Gln1097Ter)
c.3265C>T (p.Gln1089Ter)
c.3100C>T (p.Gln1034Ter)
c.3459C>T (p.Phe1153=)
c.3435C>T (p.Phe1145=)
c.3432C>T (p.Phe1144=)
c.3360C>T (p.Phe1120=)
c.3345C>T (p.Phe1115=)
c.3270C>T (p.Phe1090=)
1g.16986287G>CCA338232298ATP13A2c.3477C>G (p.Phe1159Leu)
c.3175C>G (p.Gln1059Glu)
c.3462C>G (p.Phe1154Leu)
n.1523C>G
c.895C>G (p.Gln299Glu)
c.3307C>G (p.Gln1103Glu)
c.3304C>G (p.Gln1102Glu)
c.3292C>G (p.Gln1098Glu)
c.3280C>G (p.Gln1094Glu)
c.3247C>G (p.Gln1083Glu)
c.3190C>G (p.Gln1064Glu)
c.3289C>G (p.Gln1097Glu)
c.3265C>G (p.Gln1089Glu)
c.3100C>G (p.Gln1034Glu)
c.3459C>G (p.Phe1153Leu)
c.3435C>G (p.Phe1145Leu)
c.3432C>G (p.Phe1144Leu)
c.3360C>G (p.Phe1120Leu)
c.3345C>G (p.Phe1115Leu)
c.3270C>G (p.Phe1090Leu)
1g.16986287G>TCA338232299ATP13A2c.3477C>A (p.Phe1159Leu)
c.3175C>A (p.Gln1059Lys)
c.3462C>A (p.Phe1154Leu)
n.1523C>A
c.895C>A (p.Gln299Lys)
c.3307C>A (p.Gln1103Lys)
c.3304C>A (p.Gln1102Lys)
c.3292C>A (p.Gln1098Lys)
c.3280C>A (p.Gln1094Lys)
c.3247C>A (p.Gln1083Lys)
c.3190C>A (p.Gln1064Lys)
c.3289C>A (p.Gln1097Lys)
c.3265C>A (p.Gln1089Lys)
c.3100C>A (p.Gln1034Lys)
c.3459C>A (p.Phe1153Leu)
c.3435C>A (p.Phe1145Leu)
c.3432C>A (p.Phe1144Leu)
c.3360C>A (p.Phe1120Leu)
c.3345C>A (p.Phe1115Leu)
c.3270C>A (p.Phe1090Leu)
1g.16986288A=CA1156049446ATP13A2c.3476T= (p.Phe1159=)
c.3174T= (p.Leu1058=)
c.3461T= (p.Phe1154=)
n.1522T=
c.894T= (p.Leu298=)
c.3306T= (p.Leu1102=)
c.3303T= (p.Leu1101=)
c.3291T= (p.Leu1097=)
c.3279T= (p.Leu1093=)
c.3246T= (p.Leu1082=)
c.3189T= (p.Leu1063=)
c.3288T= (p.Leu1096=)
c.3264T= (p.Leu1088=)
c.3099T= (p.Leu1033=)
c.3458T= (p.Phe1153=)
c.3434T= (p.Phe1145=)
c.3431T= (p.Phe1144=)
c.3359T= (p.Phe1120=)
c.3344T= (p.Phe1115=)
c.3269T= (p.Phe1090=)
1g.16986288A>CCA338232302ATP13A2c.3476T>G (p.Phe1159Cys)
c.3174T>G (p.Leu1058=)
c.3461T>G (p.Phe1154Cys)
n.1522T>G
c.894T>G (p.Leu298=)
c.3306T>G (p.Leu1102=)
c.3303T>G (p.Leu1101=)
c.3291T>G (p.Leu1097=)
c.3279T>G (p.Leu1093=)
c.3246T>G (p.Leu1082=)
c.3189T>G (p.Leu1063=)
c.3288T>G (p.Leu1096=)
c.3264T>G (p.Leu1088=)
c.3099T>G (p.Leu1033=)
c.3458T>G (p.Phe1153Cys)
c.3434T>G (p.Phe1145Cys)
c.3431T>G (p.Phe1144Cys)
c.3359T>G (p.Phe1120Cys)
c.3344T>G (p.Phe1115Cys)
c.3269T>G (p.Phe1090Cys)
1g.16986288A>GCA338232301ATP13A2c.3476T>C (p.Phe1159Ser)
c.3174T>C (p.Leu1058=)
c.3461T>C (p.Phe1154Ser)
n.1522T>C
c.894T>C (p.Leu298=)
c.3306T>C (p.Leu1102=)
c.3303T>C (p.Leu1101=)
c.3291T>C (p.Leu1097=)
c.3279T>C (p.Leu1093=)
c.3246T>C (p.Leu1082=)
c.3189T>C (p.Leu1063=)
c.3288T>C (p.Leu1096=)
c.3264T>C (p.Leu1088=)
c.3099T>C (p.Leu1033=)
c.3458T>C (p.Phe1153Ser)
c.3434T>C (p.Phe1145Ser)
c.3431T>C (p.Phe1144Ser)
c.3359T>C (p.Phe1120Ser)
c.3344T>C (p.Phe1115Ser)
c.3269T>C (p.Phe1090Ser)
 ClinVar dbSNP
1g.16986288A>TCA338232300ATP13A2c.3476T>A (p.Phe1159Tyr)
c.3174T>A (p.Leu1058=)
c.3461T>A (p.Phe1154Tyr)
n.1522T>A
c.894T>A (p.Leu298=)
c.3306T>A (p.Leu1102=)
c.3303T>A (p.Leu1101=)
c.3291T>A (p.Leu1097=)
c.3279T>A (p.Leu1093=)
c.3246T>A (p.Leu1082=)
c.3189T>A (p.Leu1063=)
c.3288T>A (p.Leu1096=)
c.3264T>A (p.Leu1088=)
c.3099T>A (p.Leu1033=)
c.3458T>A (p.Phe1153Tyr)
c.3434T>A (p.Phe1145Tyr)
c.3431T>A (p.Phe1144Tyr)
c.3359T>A (p.Phe1120Tyr)
c.3344T>A (p.Phe1115Tyr)
c.3269T>A (p.Phe1090Tyr)
1g.16986289A>CCA338232304ATP13A2c.3475T>G (p.Phe1159Val)
c.3173T>G (p.Leu1058Arg)
c.3460T>G (p.Phe1154Val)
n.1521T>G
c.893T>G (p.Leu298Arg)
c.3305T>G (p.Leu1102Arg)
c.3302T>G (p.Leu1101Arg)
c.3290T>G (p.Leu1097Arg)
c.3278T>G (p.Leu1093Arg)
c.3245T>G (p.Leu1082Arg)
c.3188T>G (p.Leu1063Arg)
c.3287T>G (p.Leu1096Arg)
c.3263T>G (p.Leu1088Arg)
c.3098T>G (p.Leu1033Arg)
c.3457T>G (p.Phe1153Val)
c.3433T>G (p.Phe1145Val)
c.3430T>G (p.Phe1144Val)
c.3358T>G (p.Phe1120Val)
c.3343T>G (p.Phe1115Val)
c.3268T>G (p.Phe1090Val)
 gnomAD v4
1g.16986289A>GCA338232305ATP13A2c.3475T>C (p.Phe1159Leu)
c.3173T>C (p.Leu1058Pro)
c.3460T>C (p.Phe1154Leu)
n.1521T>C
c.893T>C (p.Leu298Pro)
c.3305T>C (p.Leu1102Pro)
c.3302T>C (p.Leu1101Pro)
c.3290T>C (p.Leu1097Pro)
c.3278T>C (p.Leu1093Pro)
c.3245T>C (p.Leu1082Pro)
c.3188T>C (p.Leu1063Pro)
c.3287T>C (p.Leu1096Pro)
c.3263T>C (p.Leu1088Pro)
c.3098T>C (p.Leu1033Pro)
c.3457T>C (p.Phe1153Leu)
c.3433T>C (p.Phe1145Leu)
c.3430T>C (p.Phe1144Leu)
c.3358T>C (p.Phe1120Leu)
c.3343T>C (p.Phe1115Leu)
c.3268T>C (p.Phe1090Leu)
1g.16986289A>TCA338232307ATP13A2c.3475T>A (p.Phe1159Ile)
c.3173T>A (p.Leu1058His)
c.3460T>A (p.Phe1154Ile)
n.1521T>A
c.893T>A (p.Leu298His)
c.3305T>A (p.Leu1102His)
c.3302T>A (p.Leu1101His)
c.3290T>A (p.Leu1097His)
c.3278T>A (p.Leu1093His)
c.3245T>A (p.Leu1082His)
c.3188T>A (p.Leu1063His)
c.3287T>A (p.Leu1096His)
c.3263T>A (p.Leu1088His)
c.3098T>A (p.Leu1033His)
c.3457T>A (p.Phe1153Ile)
c.3433T>A (p.Phe1145Ile)
c.3430T>A (p.Phe1144Ile)
c.3358T>A (p.Phe1120Ile)
c.3343T>A (p.Phe1115Ile)
c.3268T>A (p.Phe1090Ile)
1g.16986290G>ACA338232309ATP13A2c.3474C>T (p.Arg1158=)
c.3172C>T (p.Leu1058Phe)
c.3459C>T (p.Arg1153=)
n.1520C>T
c.892C>T (p.Leu298Phe)
c.3304C>T (p.Leu1102Phe)
c.3301C>T (p.Leu1101Phe)
c.3289C>T (p.Leu1097Phe)
c.3277C>T (p.Leu1093Phe)
c.3244C>T (p.Leu1082Phe)
c.3187C>T (p.Leu1063Phe)
c.3286C>T (p.Leu1096Phe)
c.3262C>T (p.Leu1088Phe)
c.3097C>T (p.Leu1033Phe)
c.3456C>T (p.Arg1152=)
c.3432C>T (p.Arg1144=)
c.3429C>T (p.Arg1143=)
c.3357C>T (p.Arg1119=)
c.3342C>T (p.Arg1114=)
c.3267C>T (p.Arg1089=)
 gnomAD v4
1g.16986290G>CCA338232311ATP13A2c.3474C>G (p.Arg1158=)
c.3172C>G (p.Leu1058Val)
c.3459C>G (p.Arg1153=)
n.1520C>G
c.892C>G (p.Leu298Val)
c.3304C>G (p.Leu1102Val)
c.3301C>G (p.Leu1101Val)
c.3289C>G (p.Leu1097Val)
c.3277C>G (p.Leu1093Val)
c.3244C>G (p.Leu1082Val)
c.3187C>G (p.Leu1063Val)
c.3286C>G (p.Leu1096Val)
c.3262C>G (p.Leu1088Val)
c.3097C>G (p.Leu1033Val)
c.3456C>G (p.Arg1152=)
c.3432C>G (p.Arg1144=)
c.3429C>G (p.Arg1143=)
c.3357C>G (p.Arg1119=)
c.3342C>G (p.Arg1114=)
c.3267C>G (p.Arg1089=)
1g.16986290G>TCA338232312ATP13A2c.3474C>A (p.Arg1158=)
c.3172C>A (p.Leu1058Ile)
c.3459C>A (p.Arg1153=)
n.1520C>A
c.892C>A (p.Leu298Ile)
c.3304C>A (p.Leu1102Ile)
c.3301C>A (p.Leu1101Ile)
c.3289C>A (p.Leu1097Ile)
c.3277C>A (p.Leu1093Ile)
c.3244C>A (p.Leu1082Ile)
c.3187C>A (p.Leu1063Ile)
c.3286C>A (p.Leu1096Ile)
c.3262C>A (p.Leu1088Ile)
c.3097C>A (p.Leu1033Ile)
c.3456C>A (p.Arg1152=)
c.3432C>A (p.Arg1144=)
c.3429C>A (p.Arg1143=)
c.3357C>A (p.Arg1119=)
c.3342C>A (p.Arg1114=)
c.3267C>A (p.Arg1089=)
 gnomAD v4
1g.16986291C>ACA636473ATP13A2c.3473G>T (p.Arg1158Leu)
c.3171G>T (p.Ala1057=)
c.3458G>T (p.Arg1153Leu)
n.1519G>T
c.891G>T (p.Ala297=)
c.3303G>T (p.Ala1101=)
c.3300G>T (p.Ala1100=)
c.3288G>T (p.Ala1096=)
c.3276G>T (p.Ala1092=)
c.3243G>T (p.Ala1081=)
c.3186G>T (p.Ala1062=)
c.3285G>T (p.Ala1095=)
c.3261G>T (p.Ala1087=)
c.3096G>T (p.Ala1032=)
c.3455G>T (p.Arg1152Leu)
c.3431G>T (p.Arg1144Leu)
c.3428G>T (p.Arg1143Leu)
c.3356G>T (p.Arg1119Leu)
c.3341G>T (p.Arg1114Leu)
c.3266G>T (p.Arg1089Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986291C=CA1145579017ATP13A2c.3473G= (p.Arg1158=)
c.3171G= (p.Ala1057=)
c.3458G= (p.Arg1153=)
n.1519G=
c.891G= (p.Ala297=)
c.3303G= (p.Ala1101=)
c.3300G= (p.Ala1100=)
c.3288G= (p.Ala1096=)
c.3276G= (p.Ala1092=)
c.3243G= (p.Ala1081=)
c.3186G= (p.Ala1062=)
c.3285G= (p.Ala1095=)
c.3261G= (p.Ala1087=)
c.3096G= (p.Ala1032=)
c.3455G= (p.Arg1152=)
c.3431G= (p.Arg1144=)
c.3428G= (p.Arg1143=)
c.3356G= (p.Arg1119=)
c.3341G= (p.Arg1114=)
c.3266G= (p.Arg1089=)
1g.16986291C>GCA338232313ATP13A2c.3473G>C (p.Arg1158Pro)
c.3171G>C (p.Ala1057=)
c.3458G>C (p.Arg1153Pro)
n.1519G>C
c.891G>C (p.Ala297=)
c.3303G>C (p.Ala1101=)
c.3300G>C (p.Ala1100=)
c.3288G>C (p.Ala1096=)
c.3276G>C (p.Ala1092=)
c.3243G>C (p.Ala1081=)
c.3186G>C (p.Ala1062=)
c.3285G>C (p.Ala1095=)
c.3261G>C (p.Ala1087=)
c.3096G>C (p.Ala1032=)
c.3455G>C (p.Arg1152Pro)
c.3431G>C (p.Arg1144Pro)
c.3428G>C (p.Arg1143Pro)
c.3356G>C (p.Arg1119Pro)
c.3341G>C (p.Arg1114Pro)
c.3266G>C (p.Arg1089Pro)
1g.16986291C>TCA636472ATP13A2c.3473G>A (p.Arg1158His)
c.3171G>A (p.Ala1057=)
c.3458G>A (p.Arg1153His)
n.1519G>A
c.891G>A (p.Ala297=)
c.3303G>A (p.Ala1101=)
c.3300G>A (p.Ala1100=)
c.3288G>A (p.Ala1096=)
c.3276G>A (p.Ala1092=)
c.3243G>A (p.Ala1081=)
c.3186G>A (p.Ala1062=)
c.3285G>A (p.Ala1095=)
c.3261G>A (p.Ala1087=)
c.3096G>A (p.Ala1032=)
c.3455G>A (p.Arg1152His)
c.3431G>A (p.Arg1144His)
c.3428G>A (p.Arg1143His)
c.3356G>A (p.Arg1119His)
c.3341G>A (p.Arg1114His)
c.3266G>A (p.Arg1089His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986292G>ACA636474ATP13A2c.3472C>T (p.Arg1158Cys)
c.3170C>T (p.Ala1057Val)
c.3457C>T (p.Arg1153Cys)
n.1518C>T
c.890C>T (p.Ala297Val)
c.3302C>T (p.Ala1101Val)
c.3299C>T (p.Ala1100Val)
c.3287C>T (p.Ala1096Val)
c.3275C>T (p.Ala1092Val)
c.3242C>T (p.Ala1081Val)
c.3185C>T (p.Ala1062Val)
c.3284C>T (p.Ala1095Val)
c.3260C>T (p.Ala1087Val)
c.3095C>T (p.Ala1032Val)
c.3454C>T (p.Arg1152Cys)
c.3430C>T (p.Arg1144Cys)
c.3427C>T (p.Arg1143Cys)
c.3355C>T (p.Arg1119Cys)
c.3340C>T (p.Arg1114Cys)
c.3265C>T (p.Arg1089Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986292G>CCA338232324ATP13A2c.3472C>G (p.Arg1158Gly)
c.3170C>G (p.Ala1057Gly)
c.3457C>G (p.Arg1153Gly)
n.1518C>G
c.890C>G (p.Ala297Gly)
c.3302C>G (p.Ala1101Gly)
c.3299C>G (p.Ala1100Gly)
c.3287C>G (p.Ala1096Gly)
c.3275C>G (p.Ala1092Gly)
c.3242C>G (p.Ala1081Gly)
c.3185C>G (p.Ala1062Gly)
c.3284C>G (p.Ala1095Gly)
c.3260C>G (p.Ala1087Gly)
c.3095C>G (p.Ala1032Gly)
c.3454C>G (p.Arg1152Gly)
c.3430C>G (p.Arg1144Gly)
c.3427C>G (p.Arg1143Gly)
c.3355C>G (p.Arg1119Gly)
c.3340C>G (p.Arg1114Gly)
c.3265C>G (p.Arg1089Gly)
1g.16986292G=CA1143494131ATP13A2c.3472C= (p.Arg1158=)
c.3170C= (p.Ala1057=)
c.3457C= (p.Arg1153=)
n.1518C=
c.890C= (p.Ala297=)
c.3302C= (p.Ala1101=)
c.3299C= (p.Ala1100=)
c.3287C= (p.Ala1096=)
c.3275C= (p.Ala1092=)
c.3242C= (p.Ala1081=)
c.3185C= (p.Ala1062=)
c.3284C= (p.Ala1095=)
c.3260C= (p.Ala1087=)
c.3095C= (p.Ala1032=)
c.3454C= (p.Arg1152=)
c.3430C= (p.Arg1144=)
c.3427C= (p.Arg1143=)
c.3355C= (p.Arg1119=)
c.3340C= (p.Arg1114=)
c.3265C= (p.Arg1089=)
1g.16986292G>TCA338232328ATP13A2c.3472C>A (p.Arg1158Ser)
c.3170C>A (p.Ala1057Glu)
c.3457C>A (p.Arg1153Ser)
n.1518C>A
c.890C>A (p.Ala297Glu)
c.3302C>A (p.Ala1101Glu)
c.3299C>A (p.Ala1100Glu)
c.3287C>A (p.Ala1096Glu)
c.3275C>A (p.Ala1092Glu)
c.3242C>A (p.Ala1081Glu)
c.3185C>A (p.Ala1062Glu)
c.3284C>A (p.Ala1095Glu)
c.3260C>A (p.Ala1087Glu)
c.3095C>A (p.Ala1032Glu)
c.3454C>A (p.Arg1152Ser)
c.3430C>A (p.Arg1144Ser)
c.3427C>A (p.Arg1143Ser)
c.3355C>A (p.Arg1119Ser)
c.3340C>A (p.Arg1114Ser)
c.3265C>A (p.Arg1089Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.16986293C>ACA338232329ATP13A2c.3471G>T (p.Lys1157Asn)
c.3169G>T (p.Ala1057Ser)
c.3456G>T (p.Lys1152Asn)
n.1517G>T
c.889G>T (p.Ala297Ser)
c.3301G>T (p.Ala1101Ser)
c.3298G>T (p.Ala1100Ser)
c.3286G>T (p.Ala1096Ser)
c.3274G>T (p.Ala1092Ser)
c.3241G>T (p.Ala1081Ser)
c.3184G>T (p.Ala1062Ser)
c.3283G>T (p.Ala1095Ser)
c.3259G>T (p.Ala1087Ser)
c.3094G>T (p.Ala1032Ser)
c.3453G>T (p.Lys1151Asn)
c.3429G>T (p.Lys1143Asn)
c.3426G>T (p.Lys1142Asn)
c.3354G>T (p.Lys1118Asn)
c.3339G>T (p.Lys1113Asn)
c.3264G>T (p.Lys1088Asn)
 ClinVar dbSNP gnomAD v4
1g.16986293C>GCA338232331ATP13A2c.3471G>C (p.Lys1157Asn)
c.3169G>C (p.Ala1057Pro)
c.3456G>C (p.Lys1152Asn)
n.1517G>C
c.889G>C (p.Ala297Pro)
c.3301G>C (p.Ala1101Pro)
c.3298G>C (p.Ala1100Pro)
c.3286G>C (p.Ala1096Pro)
c.3274G>C (p.Ala1092Pro)
c.3241G>C (p.Ala1081Pro)
c.3184G>C (p.Ala1062Pro)
c.3283G>C (p.Ala1095Pro)
c.3259G>C (p.Ala1087Pro)
c.3094G>C (p.Ala1032Pro)
c.3453G>C (p.Lys1151Asn)
c.3429G>C (p.Lys1143Asn)
c.3426G>C (p.Lys1142Asn)
c.3354G>C (p.Lys1118Asn)
c.3339G>C (p.Lys1113Asn)
c.3264G>C (p.Lys1088Asn)
1g.16986293C>TCA338232330ATP13A2c.3471G>A (p.Lys1157=)
c.3169G>A (p.Ala1057Thr)
c.3456G>A (p.Lys1152=)
n.1517G>A
c.889G>A (p.Ala297Thr)
c.3301G>A (p.Ala1101Thr)
c.3298G>A (p.Ala1100Thr)
c.3286G>A (p.Ala1096Thr)
c.3274G>A (p.Ala1092Thr)
c.3241G>A (p.Ala1081Thr)
c.3184G>A (p.Ala1062Thr)
c.3283G>A (p.Ala1095Thr)
c.3259G>A (p.Ala1087Thr)
c.3094G>A (p.Ala1032Thr)
c.3453G>A (p.Lys1151=)
c.3429G>A (p.Lys1143=)
c.3426G>A (p.Lys1142=)
c.3354G>A (p.Lys1118=)
c.3339G>A (p.Lys1113=)
c.3264G>A (p.Lys1088=)
 gnomAD v4
1g.16986294T>ACA338232332ATP13A2c.3470A>T (p.Lys1157Met)
c.3168A>T (p.Glu1056Asp)
c.3455A>T (p.Lys1152Met)
n.1516A>T
c.888A>T (p.Glu296Asp)
c.3300A>T (p.Glu1100Asp)
c.3297A>T (p.Glu1099Asp)
c.3285A>T (p.Glu1095Asp)
c.3273A>T (p.Glu1091Asp)
c.3240A>T (p.Glu1080Asp)
c.3183A>T (p.Glu1061Asp)
c.3282A>T (p.Glu1094Asp)
c.3258A>T (p.Glu1086Asp)
c.3093A>T (p.Glu1031Asp)
c.3452A>T (p.Lys1151Met)
c.3428A>T (p.Lys1143Met)
c.3425A>T (p.Lys1142Met)
c.3353A>T (p.Lys1118Met)
c.3338A>T (p.Lys1113Met)
c.3263A>T (p.Lys1088Met)
 dbSNP gnomAD v2 gnomAD v4
1g.16986294T>CCA338232334ATP13A2c.3470A>G (p.Lys1157Arg)
c.3168A>G (p.Glu1056=)
c.3455A>G (p.Lys1152Arg)
n.1516A>G
c.888A>G (p.Glu296=)
c.3300A>G (p.Glu1100=)
c.3297A>G (p.Glu1099=)
c.3285A>G (p.Glu1095=)
c.3273A>G (p.Glu1091=)
c.3240A>G (p.Glu1080=)
c.3183A>G (p.Glu1061=)
c.3282A>G (p.Glu1094=)
c.3258A>G (p.Glu1086=)
c.3093A>G (p.Glu1031=)
c.3452A>G (p.Lys1151Arg)
c.3428A>G (p.Lys1143Arg)
c.3425A>G (p.Lys1142Arg)
c.3353A>G (p.Lys1118Arg)
c.3338A>G (p.Lys1113Arg)
c.3263A>G (p.Lys1088Arg)
1g.16986294T>GCA338232333ATP13A2c.3470A>C (p.Lys1157Thr)
c.3168A>C (p.Glu1056Asp)
c.3455A>C (p.Lys1152Thr)
n.1516A>C
c.888A>C (p.Glu296Asp)
c.3300A>C (p.Glu1100Asp)
c.3297A>C (p.Glu1099Asp)
c.3285A>C (p.Glu1095Asp)
c.3273A>C (p.Glu1091Asp)
c.3240A>C (p.Glu1080Asp)
c.3183A>C (p.Glu1061Asp)
c.3282A>C (p.Glu1094Asp)
c.3258A>C (p.Glu1086Asp)
c.3093A>C (p.Glu1031Asp)
c.3452A>C (p.Lys1151Thr)
c.3428A>C (p.Lys1143Thr)
c.3425A>C (p.Lys1142Thr)
c.3353A>C (p.Lys1118Thr)
c.3338A>C (p.Lys1113Thr)
c.3263A>C (p.Lys1088Thr)
1g.16986294T=CA1156049467ATP13A2c.3470A= (p.Lys1157=)
c.3168A= (p.Glu1056=)
c.3455A= (p.Lys1152=)
n.1516A=
c.888A= (p.Glu296=)
c.3300A= (p.Glu1100=)
c.3297A= (p.Glu1099=)
c.3285A= (p.Glu1095=)
c.3273A= (p.Glu1091=)
c.3240A= (p.Glu1080=)
c.3183A= (p.Glu1061=)
c.3282A= (p.Glu1094=)
c.3258A= (p.Glu1086=)
c.3093A= (p.Glu1031=)
c.3452A= (p.Lys1151=)
c.3428A= (p.Lys1143=)
c.3425A= (p.Lys1142=)
c.3353A= (p.Lys1118=)
c.3338A= (p.Lys1113=)
c.3263A= (p.Lys1088=)
1g.16986295T>ACA338232336ATP13A2c.3469A>T (p.Lys1157Ter)
c.3167A>T (p.Glu1056Val)
c.3454A>T (p.Lys1152Ter)
n.1515A>T
c.887A>T (p.Glu296Val)
c.3299A>T (p.Glu1100Val)
c.3296A>T (p.Glu1099Val)
c.3284A>T (p.Glu1095Val)
c.3272A>T (p.Glu1091Val)
c.3239A>T (p.Glu1080Val)
c.3182A>T (p.Glu1061Val)
c.3281A>T (p.Glu1094Val)
c.3257A>T (p.Glu1086Val)
c.3092A>T (p.Glu1031Val)
c.3451A>T (p.Lys1151Ter)
c.3427A>T (p.Lys1143Ter)
c.3424A>T (p.Lys1142Ter)
c.3352A>T (p.Lys1118Ter)
c.3337A>T (p.Lys1113Ter)
c.3262A>T (p.Lys1088Ter)
1g.16986295T>CCA338232337ATP13A2c.3469A>G (p.Lys1157Glu)
c.3167A>G (p.Glu1056Gly)
c.3454A>G (p.Lys1152Glu)
n.1515A>G
c.887A>G (p.Glu296Gly)
c.3299A>G (p.Glu1100Gly)
c.3296A>G (p.Glu1099Gly)
c.3284A>G (p.Glu1095Gly)
c.3272A>G (p.Glu1091Gly)
c.3239A>G (p.Glu1080Gly)
c.3182A>G (p.Glu1061Gly)
c.3281A>G (p.Glu1094Gly)
c.3257A>G (p.Glu1086Gly)
c.3092A>G (p.Glu1031Gly)
c.3451A>G (p.Lys1151Glu)
c.3427A>G (p.Lys1143Glu)
c.3424A>G (p.Lys1142Glu)
c.3352A>G (p.Lys1118Glu)
c.3337A>G (p.Lys1113Glu)
c.3262A>G (p.Lys1088Glu)
1g.16986295T>GCA338232339ATP13A2c.3469A>C (p.Lys1157Gln)
c.3167A>C (p.Glu1056Ala)
c.3454A>C (p.Lys1152Gln)
n.1515A>C
c.887A>C (p.Glu296Ala)
c.3299A>C (p.Glu1100Ala)
c.3296A>C (p.Glu1099Ala)
c.3284A>C (p.Glu1095Ala)
c.3272A>C (p.Glu1091Ala)
c.3239A>C (p.Glu1080Ala)
c.3182A>C (p.Glu1061Ala)
c.3281A>C (p.Glu1094Ala)
c.3257A>C (p.Glu1086Ala)
c.3092A>C (p.Glu1031Ala)
c.3451A>C (p.Lys1151Gln)
c.3427A>C (p.Lys1143Gln)
c.3424A>C (p.Lys1142Gln)
c.3352A>C (p.Lys1118Gln)
c.3337A>C (p.Lys1113Gln)
c.3262A>C (p.Lys1088Gln)
1g.16986296C>ACA338232340ATP13A2c.3468G>T (p.Lys1156Asn)
c.3166G>T (p.Glu1056Ter)
c.3453G>T (p.Lys1151Asn)
n.1514G>T
c.886G>T (p.Glu296Ter)
c.3298G>T (p.Glu1100Ter)
c.3295G>T (p.Glu1099Ter)
c.3283G>T (p.Glu1095Ter)
c.3271G>T (p.Glu1091Ter)
c.3238G>T (p.Glu1080Ter)
c.3181G>T (p.Glu1061Ter)
c.3280G>T (p.Glu1094Ter)
c.3256G>T (p.Glu1086Ter)
c.3091G>T (p.Glu1031Ter)
c.3450G>T (p.Lys1150Asn)
c.3426G>T (p.Lys1142Asn)
c.3423G>T (p.Lys1141Asn)
c.3351G>T (p.Lys1117Asn)
c.3336G>T (p.Lys1112Asn)
c.3261G>T (p.Lys1087Asn)
1g.16986296C>GCA338232341ATP13A2c.3468G>C (p.Lys1156Asn)
c.3166G>C (p.Glu1056Gln)
c.3453G>C (p.Lys1151Asn)
n.1514G>C
c.886G>C (p.Glu296Gln)
c.3298G>C (p.Glu1100Gln)
c.3295G>C (p.Glu1099Gln)
c.3283G>C (p.Glu1095Gln)
c.3271G>C (p.Glu1091Gln)
c.3238G>C (p.Glu1080Gln)
c.3181G>C (p.Glu1061Gln)
c.3280G>C (p.Glu1094Gln)
c.3256G>C (p.Glu1086Gln)
c.3091G>C (p.Glu1031Gln)
c.3450G>C (p.Lys1150Asn)
c.3426G>C (p.Lys1142Asn)
c.3423G>C (p.Lys1141Asn)
c.3351G>C (p.Lys1117Asn)
c.3336G>C (p.Lys1112Asn)
c.3261G>C (p.Lys1087Asn)
1g.16986296C>TCA338232342ATP13A2c.3468G>A (p.Lys1156=)
c.3166G>A (p.Glu1056Lys)
c.3453G>A (p.Lys1151=)
n.1514G>A
c.886G>A (p.Glu296Lys)
c.3298G>A (p.Glu1100Lys)
c.3295G>A (p.Glu1099Lys)
c.3283G>A (p.Glu1095Lys)
c.3271G>A (p.Glu1091Lys)
c.3238G>A (p.Glu1080Lys)
c.3181G>A (p.Glu1061Lys)
c.3280G>A (p.Glu1094Lys)
c.3256G>A (p.Glu1086Lys)
c.3091G>A (p.Glu1031Lys)
c.3450G>A (p.Lys1150=)
c.3426G>A (p.Lys1142=)
c.3423G>A (p.Lys1141=)
c.3351G>A (p.Lys1117=)
c.3336G>A (p.Lys1112=)
c.3261G>A (p.Lys1087=)
 COSMIC COSMIC
1g.16986297T>ACA338232343ATP13A2c.3467A>T (p.Lys1156Met)
c.3165A>T (p.Gln1055His)
c.3452A>T (p.Lys1151Met)
n.1513A>T
c.885A>T (p.Gln295His)
c.3297A>T (p.Gln1099His)
c.3294A>T (p.Gln1098His)
c.3282A>T (p.Gln1094His)
c.3270A>T (p.Gln1090His)
c.3237A>T (p.Gln1079His)
c.3180A>T (p.Gln1060His)
c.3279A>T (p.Gln1093His)
c.3255A>T (p.Gln1085His)
c.3090A>T (p.Gln1030His)
c.3449A>T (p.Lys1150Met)
c.3425A>T (p.Lys1142Met)
c.3422A>T (p.Lys1141Met)
c.3350A>T (p.Lys1117Met)
c.3335A>T (p.Lys1112Met)
c.3260A>T (p.Lys1087Met)
1g.16986297T>CCA338232345ATP13A2c.3467A>G (p.Lys1156Arg)
c.3165A>G (p.Gln1055=)
c.3452A>G (p.Lys1151Arg)
n.1513A>G
c.885A>G (p.Gln295=)
c.3297A>G (p.Gln1099=)
c.3294A>G (p.Gln1098=)
c.3282A>G (p.Gln1094=)
c.3270A>G (p.Gln1090=)
c.3237A>G (p.Gln1079=)
c.3180A>G (p.Gln1060=)
c.3279A>G (p.Gln1093=)
c.3255A>G (p.Gln1085=)
c.3090A>G (p.Gln1030=)
c.3449A>G (p.Lys1150Arg)
c.3425A>G (p.Lys1142Arg)
c.3422A>G (p.Lys1141Arg)
c.3350A>G (p.Lys1117Arg)
c.3335A>G (p.Lys1112Arg)
c.3260A>G (p.Lys1087Arg)
1g.16986297T>GCA338232346ATP13A2c.3467A>C (p.Lys1156Thr)
c.3165A>C (p.Gln1055His)
c.3452A>C (p.Lys1151Thr)
n.1513A>C
c.885A>C (p.Gln295His)
c.3297A>C (p.Gln1099His)
c.3294A>C (p.Gln1098His)
c.3282A>C (p.Gln1094His)
c.3270A>C (p.Gln1090His)
c.3237A>C (p.Gln1079His)
c.3180A>C (p.Gln1060His)
c.3279A>C (p.Gln1093His)
c.3255A>C (p.Gln1085His)
c.3090A>C (p.Gln1030His)
c.3449A>C (p.Lys1150Thr)
c.3425A>C (p.Lys1142Thr)
c.3422A>C (p.Lys1141Thr)
c.3350A>C (p.Lys1117Thr)
c.3335A>C (p.Lys1112Thr)
c.3260A>C (p.Lys1087Thr)
1g.16986298T>ACA338232347ATP13A2c.3466A>T (p.Lys1156Ter)
c.3164A>T (p.Gln1055Leu)
c.3451A>T (p.Lys1151Ter)
n.1512A>T
c.884A>T (p.Gln295Leu)
c.3296A>T (p.Gln1099Leu)
c.3293A>T (p.Gln1098Leu)
c.3281A>T (p.Gln1094Leu)
c.3269A>T (p.Gln1090Leu)
c.3236A>T (p.Gln1079Leu)
c.3179A>T (p.Gln1060Leu)
c.3278A>T (p.Gln1093Leu)
c.3254A>T (p.Gln1085Leu)
c.3089A>T (p.Gln1030Leu)
c.3448A>T (p.Lys1150Ter)
c.3424A>T (p.Lys1142Ter)
c.3421A>T (p.Lys1141Ter)
c.3349A>T (p.Lys1117Ter)
c.3334A>T (p.Lys1112Ter)
c.3259A>T (p.Lys1087Ter)
1g.16986298T>CCA636475ATP13A2c.3466A>G (p.Lys1156Glu)
c.3164A>G (p.Gln1055Arg)
c.3451A>G (p.Lys1151Glu)
n.1512A>G
c.884A>G (p.Gln295Arg)
c.3296A>G (p.Gln1099Arg)
c.3293A>G (p.Gln1098Arg)
c.3281A>G (p.Gln1094Arg)
c.3269A>G (p.Gln1090Arg)
c.3236A>G (p.Gln1079Arg)
c.3179A>G (p.Gln1060Arg)
c.3278A>G (p.Gln1093Arg)
c.3254A>G (p.Gln1085Arg)
c.3089A>G (p.Gln1030Arg)
c.3448A>G (p.Lys1150Glu)
c.3424A>G (p.Lys1142Glu)
c.3421A>G (p.Lys1141Glu)
c.3349A>G (p.Lys1117Glu)
c.3334A>G (p.Lys1112Glu)
c.3259A>G (p.Lys1087Glu)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.16986298T>GCA338232355ATP13A2c.3466A>C (p.Lys1156Gln)
c.3164A>C (p.Gln1055Pro)
c.3451A>C (p.Lys1151Gln)
n.1512A>C
c.884A>C (p.Gln295Pro)
c.3296A>C (p.Gln1099Pro)
c.3293A>C (p.Gln1098Pro)
c.3281A>C (p.Gln1094Pro)
c.3269A>C (p.Gln1090Pro)
c.3236A>C (p.Gln1079Pro)
c.3179A>C (p.Gln1060Pro)
c.3278A>C (p.Gln1093Pro)
c.3254A>C (p.Gln1085Pro)
c.3089A>C (p.Gln1030Pro)
c.3448A>C (p.Lys1150Gln)
c.3424A>C (p.Lys1142Gln)
c.3421A>C (p.Lys1141Gln)
c.3349A>C (p.Lys1117Gln)
c.3334A>C (p.Lys1112Gln)
c.3259A>C (p.Lys1087Gln)
 dbSNP
1g.16986298T=CA1156049484ATP13A2c.3466A= (p.Lys1156=)
c.3164A= (p.Gln1055=)
c.3451A= (p.Lys1151=)
n.1512A=
c.884A= (p.Gln295=)
c.3296A= (p.Gln1099=)
c.3293A= (p.Gln1098=)
c.3281A= (p.Gln1094=)
c.3269A= (p.Gln1090=)
c.3236A= (p.Gln1079=)
c.3179A= (p.Gln1060=)
c.3278A= (p.Gln1093=)
c.3254A= (p.Gln1085=)
c.3089A= (p.Gln1030=)
c.3448A= (p.Lys1150=)
c.3424A= (p.Lys1142=)
c.3421A= (p.Lys1141=)
c.3349A= (p.Lys1117=)
c.3334A= (p.Lys1112=)
c.3259A= (p.Lys1087=)
1g.16986299G>ACA338232368ATP13A2c.3465C>T (p.Ser1155=)
c.3163C>T (p.Gln1055Ter)
c.3450C>T (p.Ser1150=)
n.1511C>T
c.883C>T (p.Gln295Ter)
c.3295C>T (p.Gln1099Ter)
c.3292C>T (p.Gln1098Ter)
c.3280C>T (p.Gln1094Ter)
c.3268C>T (p.Gln1090Ter)
c.3235C>T (p.Gln1079Ter)
c.3178C>T (p.Gln1060Ter)
c.3277C>T (p.Gln1093Ter)
c.3253C>T (p.Gln1085Ter)
c.3088C>T (p.Gln1030Ter)
c.3447C>T (p.Ser1149=)
c.3423C>T (p.Ser1141=)
c.3420C>T (p.Ser1140=)
c.3348C>T (p.Ser1116=)
c.3333C>T (p.Ser1111=)
c.3258C>T (p.Ser1086=)
 gnomAD v4
1g.16986299G>CCA338232361ATP13A2c.3465C>G (p.Ser1155=)
c.3163C>G (p.Gln1055Glu)
c.3450C>G (p.Ser1150=)
n.1511C>G
c.883C>G (p.Gln295Glu)
c.3295C>G (p.Gln1099Glu)
c.3292C>G (p.Gln1098Glu)
c.3280C>G (p.Gln1094Glu)
c.3268C>G (p.Gln1090Glu)
c.3235C>G (p.Gln1079Glu)
c.3178C>G (p.Gln1060Glu)
c.3277C>G (p.Gln1093Glu)
c.3253C>G (p.Gln1085Glu)
c.3088C>G (p.Gln1030Glu)
c.3447C>G (p.Ser1149=)
c.3423C>G (p.Ser1141=)
c.3420C>G (p.Ser1140=)
c.3348C>G (p.Ser1116=)
c.3333C>G (p.Ser1111=)
c.3258C>G (p.Ser1086=)
1g.16986299G>TCA338232363ATP13A2c.3465C>A (p.Ser1155=)
c.3163C>A (p.Gln1055Lys)
c.3450C>A (p.Ser1150=)
n.1511C>A
c.883C>A (p.Gln295Lys)
c.3295C>A (p.Gln1099Lys)
c.3292C>A (p.Gln1098Lys)
c.3280C>A (p.Gln1094Lys)
c.3268C>A (p.Gln1090Lys)
c.3235C>A (p.Gln1079Lys)
c.3178C>A (p.Gln1060Lys)
c.3277C>A (p.Gln1093Lys)
c.3253C>A (p.Gln1085Lys)
c.3088C>A (p.Gln1030Lys)
c.3447C>A (p.Ser1149=)
c.3423C>A (p.Ser1141=)
c.3420C>A (p.Ser1140=)
c.3348C>A (p.Ser1116=)
c.3333C>A (p.Ser1111=)
c.3258C>A (p.Ser1086=)
1g.16986300G>ACA338232371ATP13A2c.3464C>T (p.Ser1155Phe)
c.3162C>T (p.Leu1054=)
c.3449C>T (p.Ser1150Phe)
n.1510C>T
c.882C>T (p.Leu294=)
c.3294C>T (p.Leu1098=)
c.3291C>T (p.Leu1097=)
c.3279C>T (p.Leu1093=)
c.3267C>T (p.Leu1089=)
c.3234C>T (p.Leu1078=)
c.3177C>T (p.Leu1059=)
c.3276C>T (p.Leu1092=)
c.3252C>T (p.Leu1084=)
c.3087C>T (p.Leu1029=)
c.3446C>T (p.Ser1149Phe)
c.3422C>T (p.Ser1141Phe)
c.3419C>T (p.Ser1140Phe)
c.3347C>T (p.Ser1116Phe)
c.3332C>T (p.Ser1111Phe)
c.3257C>T (p.Ser1086Phe)
1g.16986300G>CCA338232372ATP13A2c.3464C>G (p.Ser1155Cys)
c.3162C>G (p.Leu1054=)
c.3449C>G (p.Ser1150Cys)
n.1510C>G
c.882C>G (p.Leu294=)
c.3294C>G (p.Leu1098=)
c.3291C>G (p.Leu1097=)
c.3279C>G (p.Leu1093=)
c.3267C>G (p.Leu1089=)
c.3234C>G (p.Leu1078=)
c.3177C>G (p.Leu1059=)
c.3276C>G (p.Leu1092=)
c.3252C>G (p.Leu1084=)
c.3087C>G (p.Leu1029=)
c.3446C>G (p.Ser1149Cys)
c.3422C>G (p.Ser1141Cys)
c.3419C>G (p.Ser1140Cys)
c.3347C>G (p.Ser1116Cys)
c.3332C>G (p.Ser1111Cys)
c.3257C>G (p.Ser1086Cys)
1g.16986300G>TCA338232373ATP13A2c.3464C>A (p.Ser1155Tyr)
c.3162C>A (p.Leu1054=)
c.3449C>A (p.Ser1150Tyr)
n.1510C>A
c.882C>A (p.Leu294=)
c.3294C>A (p.Leu1098=)
c.3291C>A (p.Leu1097=)
c.3279C>A (p.Leu1093=)
c.3267C>A (p.Leu1089=)
c.3234C>A (p.Leu1078=)
c.3177C>A (p.Leu1059=)
c.3276C>A (p.Leu1092=)
c.3252C>A (p.Leu1084=)
c.3087C>A (p.Leu1029=)
c.3446C>A (p.Ser1149Tyr)
c.3422C>A (p.Ser1141Tyr)
c.3419C>A (p.Ser1140Tyr)
c.3347C>A (p.Ser1116Tyr)
c.3332C>A (p.Ser1111Tyr)
c.3257C>A (p.Ser1086Tyr)
1g.16986301A>CCA338232377ATP13A2c.3463T>G (p.Ser1155Ala)
c.3161T>G (p.Leu1054Arg)
c.3448T>G (p.Ser1150Ala)
n.1509T>G
c.881T>G (p.Leu294Arg)
c.3293T>G (p.Leu1098Arg)
c.3290T>G (p.Leu1097Arg)
c.3278T>G (p.Leu1093Arg)
c.3266T>G (p.Leu1089Arg)
c.3233T>G (p.Leu1078Arg)
c.3176T>G (p.Leu1059Arg)
c.3275T>G (p.Leu1092Arg)
c.3251T>G (p.Leu1084Arg)
c.3086T>G (p.Leu1029Arg)
c.3445T>G (p.Ser1149Ala)
c.3421T>G (p.Ser1141Ala)
c.3418T>G (p.Ser1140Ala)
c.3346T>G (p.Ser1116Ala)
c.3331T>G (p.Ser1111Ala)
c.3256T>G (p.Ser1086Ala)
1g.16986301A>GCA338232379ATP13A2c.3463T>C (p.Ser1155Pro)
c.3161T>C (p.Leu1054Pro)
c.3448T>C (p.Ser1150Pro)
n.1509T>C
c.881T>C (p.Leu294Pro)
c.3293T>C (p.Leu1098Pro)
c.3290T>C (p.Leu1097Pro)
c.3278T>C (p.Leu1093Pro)
c.3266T>C (p.Leu1089Pro)
c.3233T>C (p.Leu1078Pro)
c.3176T>C (p.Leu1059Pro)
c.3275T>C (p.Leu1092Pro)
c.3251T>C (p.Leu1084Pro)
c.3086T>C (p.Leu1029Pro)
c.3445T>C (p.Ser1149Pro)
c.3421T>C (p.Ser1141Pro)
c.3418T>C (p.Ser1140Pro)
c.3346T>C (p.Ser1116Pro)
c.3331T>C (p.Ser1111Pro)
c.3256T>C (p.Ser1086Pro)
1g.16986301A>TCA338232381ATP13A2c.3463T>A (p.Ser1155Thr)
c.3161T>A (p.Leu1054His)
c.3448T>A (p.Ser1150Thr)
n.1509T>A
c.881T>A (p.Leu294His)
c.3293T>A (p.Leu1098His)
c.3290T>A (p.Leu1097His)
c.3278T>A (p.Leu1093His)
c.3266T>A (p.Leu1089His)
c.3233T>A (p.Leu1078His)
c.3176T>A (p.Leu1059His)
c.3275T>A (p.Leu1092His)
c.3251T>A (p.Leu1084His)
c.3086T>A (p.Leu1029His)
c.3445T>A (p.Ser1149Thr)
c.3421T>A (p.Ser1141Thr)
c.3418T>A (p.Ser1140Thr)
c.3346T>A (p.Ser1116Thr)
c.3331T>A (p.Ser1111Thr)
c.3256T>A (p.Ser1086Thr)
1g.16986302G>ACA18624704ATP13A2c.3462C>T (p.Ala1154=)
c.3160C>T (p.Leu1054Phe)
c.3447C>T (p.Ala1149=)
n.1508C>T
c.880C>T (p.Leu294Phe)
c.3292C>T (p.Leu1098Phe)
c.3289C>T (p.Leu1097Phe)
c.3277C>T (p.Leu1093Phe)
c.3265C>T (p.Leu1089Phe)
c.3232C>T (p.Leu1078Phe)
c.3175C>T (p.Leu1059Phe)
c.3274C>T (p.Leu1092Phe)
c.3250C>T (p.Leu1084Phe)
c.3085C>T (p.Leu1029Phe)
c.3444C>T (p.Ala1148=)
c.3420C>T (p.Ala1140=)
c.3417C>T (p.Ala1139=)
c.3345C>T (p.Ala1115=)
c.3330C>T (p.Ala1110=)
c.3255C>T (p.Ala1085=)
 ClinVar dbSNP gnomAD v4
1g.16986302G>CCA338232386ATP13A2c.3462C>G (p.Ala1154=)
c.3160C>G (p.Leu1054Val)
c.3447C>G (p.Ala1149=)
n.1508C>G
c.880C>G (p.Leu294Val)
c.3292C>G (p.Leu1098Val)
c.3289C>G (p.Leu1097Val)
c.3277C>G (p.Leu1093Val)
c.3265C>G (p.Leu1089Val)
c.3232C>G (p.Leu1078Val)
c.3175C>G (p.Leu1059Val)
c.3274C>G (p.Leu1092Val)
c.3250C>G (p.Leu1084Val)
c.3085C>G (p.Leu1029Val)
c.3444C>G (p.Ala1148=)
c.3420C>G (p.Ala1140=)
c.3417C>G (p.Ala1139=)
c.3345C>G (p.Ala1115=)
c.3330C>G (p.Ala1110=)
c.3255C>G (p.Ala1085=)
1g.16986302G=CA1156049490ATP13A2c.3462C= (p.Ala1154=)
c.3160C= (p.Leu1054=)
c.3447C= (p.Ala1149=)
n.1508C=
c.880C= (p.Leu294=)
c.3292C= (p.Leu1098=)
c.3289C= (p.Leu1097=)
c.3277C= (p.Leu1093=)
c.3265C= (p.Leu1089=)
c.3232C= (p.Leu1078=)
c.3175C= (p.Leu1059=)
c.3274C= (p.Leu1092=)
c.3250C= (p.Leu1084=)
c.3085C= (p.Leu1029=)
c.3444C= (p.Ala1148=)
c.3420C= (p.Ala1140=)
c.3417C= (p.Ala1139=)
c.3345C= (p.Ala1115=)
c.3330C= (p.Ala1110=)
c.3255C= (p.Ala1085=)
1g.16986302G>TCA636476ATP13A2c.3462C>A (p.Ala1154=)
c.3160C>A (p.Leu1054Ile)
c.3447C>A (p.Ala1149=)
n.1508C>A
c.880C>A (p.Leu294Ile)
c.3292C>A (p.Leu1098Ile)
c.3289C>A (p.Leu1097Ile)
c.3277C>A (p.Leu1093Ile)
c.3265C>A (p.Leu1089Ile)
c.3232C>A (p.Leu1078Ile)
c.3175C>A (p.Leu1059Ile)
c.3274C>A (p.Leu1092Ile)
c.3250C>A (p.Leu1084Ile)
c.3085C>A (p.Leu1029Ile)
c.3444C>A (p.Ala1148=)
c.3420C>A (p.Ala1140=)
c.3417C>A (p.Ala1139=)
c.3345C>A (p.Ala1115=)
c.3330C>A (p.Ala1110=)
c.3255C>A (p.Ala1085=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986303G>ACA338232390ATP13A2c.3461C>T (p.Ala1154Val)
c.3159C>T (p.Gly1053=)
c.3446C>T (p.Ala1149Val)
n.1507C>T
c.879C>T (p.Gly293=)
c.3291C>T (p.Gly1097=)
c.3288C>T (p.Gly1096=)
c.3276C>T (p.Gly1092=)
c.3264C>T (p.Gly1088=)
c.3231C>T (p.Gly1077=)
c.3174C>T (p.Gly1058=)
c.3273C>T (p.Gly1091=)
c.3249C>T (p.Gly1083=)
c.3084C>T (p.Gly1028=)
c.3443C>T (p.Ala1148Val)
c.3419C>T (p.Ala1140Val)
c.3416C>T (p.Ala1139Val)
c.3344C>T (p.Ala1115Val)
c.3329C>T (p.Ala1110Val)
c.3254C>T (p.Ala1085Val)
 gnomAD v4
1g.16986303G>CCA338232391ATP13A2c.3461C>G (p.Ala1154Gly)
c.3159C>G (p.Gly1053=)
c.3446C>G (p.Ala1149Gly)
n.1507C>G
c.879C>G (p.Gly293=)
c.3291C>G (p.Gly1097=)
c.3288C>G (p.Gly1096=)
c.3276C>G (p.Gly1092=)
c.3264C>G (p.Gly1088=)
c.3231C>G (p.Gly1077=)
c.3174C>G (p.Gly1058=)
c.3273C>G (p.Gly1091=)
c.3249C>G (p.Gly1083=)
c.3084C>G (p.Gly1028=)
c.3443C>G (p.Ala1148Gly)
c.3419C>G (p.Ala1140Gly)
c.3416C>G (p.Ala1139Gly)
c.3344C>G (p.Ala1115Gly)
c.3329C>G (p.Ala1110Gly)
c.3254C>G (p.Ala1085Gly)
 gnomAD v4
1g.16986303G>TCA338232392ATP13A2c.3461C>A (p.Ala1154Asp)
c.3159C>A (p.Gly1053=)
c.3446C>A (p.Ala1149Asp)
n.1507C>A
c.879C>A (p.Gly293=)
c.3291C>A (p.Gly1097=)
c.3288C>A (p.Gly1096=)
c.3276C>A (p.Gly1092=)
c.3264C>A (p.Gly1088=)
c.3231C>A (p.Gly1077=)
c.3174C>A (p.Gly1058=)
c.3273C>A (p.Gly1091=)
c.3249C>A (p.Gly1083=)
c.3084C>A (p.Gly1028=)
c.3443C>A (p.Ala1148Asp)
c.3419C>A (p.Ala1140Asp)
c.3416C>A (p.Ala1139Asp)
c.3344C>A (p.Ala1115Asp)
c.3329C>A (p.Ala1110Asp)
c.3254C>A (p.Ala1085Asp)
 gnomAD v4
1g.16986304C>ACA338232394ATP13A2c.3460G>T (p.Ala1154Ser)
c.3158G>T (p.Gly1053Val)
c.3445G>T (p.Ala1149Ser)
n.1506G>T
c.878G>T (p.Gly293Val)
c.3290G>T (p.Gly1097Val)
c.3287G>T (p.Gly1096Val)
c.3275G>T (p.Gly1092Val)
c.3263G>T (p.Gly1088Val)
c.3230G>T (p.Gly1077Val)
c.3173G>T (p.Gly1058Val)
c.3272G>T (p.Gly1091Val)
c.3248G>T (p.Gly1083Val)
c.3083G>T (p.Gly1028Val)
c.3442G>T (p.Ala1148Ser)
c.3418G>T (p.Ala1140Ser)
c.3415G>T (p.Ala1139Ser)
c.3343G>T (p.Ala1115Ser)
c.3328G>T (p.Ala1110Ser)
c.3253G>T (p.Ala1085Ser)
 gnomAD v4
1g.16986304C=CA1156049497ATP13A2c.3460G= (p.Ala1154=)
c.3158G= (p.Gly1053=)
c.3445G= (p.Ala1149=)
n.1506G=
c.878G= (p.Gly293=)
c.3290G= (p.Gly1097=)
c.3287G= (p.Gly1096=)
c.3275G= (p.Gly1092=)
c.3263G= (p.Gly1088=)
c.3230G= (p.Gly1077=)
c.3173G= (p.Gly1058=)
c.3272G= (p.Gly1091=)
c.3248G= (p.Gly1083=)
c.3083G= (p.Gly1028=)
c.3442G= (p.Ala1148=)
c.3418G= (p.Ala1140=)
c.3415G= (p.Ala1139=)
c.3343G= (p.Ala1115=)
c.3328G= (p.Ala1110=)
c.3253G= (p.Ala1085=)
1g.16986304C>GCA18624716ATP13A2c.3460G>C (p.Ala1154Pro)
c.3158G>C (p.Gly1053Ala)
c.3445G>C (p.Ala1149Pro)
n.1506G>C
c.878G>C (p.Gly293Ala)
c.3290G>C (p.Gly1097Ala)
c.3287G>C (p.Gly1096Ala)
c.3275G>C (p.Gly1092Ala)
c.3263G>C (p.Gly1088Ala)
c.3230G>C (p.Gly1077Ala)
c.3173G>C (p.Gly1058Ala)
c.3272G>C (p.Gly1091Ala)
c.3248G>C (p.Gly1083Ala)
c.3083G>C (p.Gly1028Ala)
c.3442G>C (p.Ala1148Pro)
c.3418G>C (p.Ala1140Pro)
c.3415G>C (p.Ala1139Pro)
c.3343G>C (p.Ala1115Pro)
c.3328G>C (p.Ala1110Pro)
c.3253G>C (p.Ala1085Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.16986304C>TCA18624729ATP13A2c.3460G>A (p.Ala1154Thr)
c.3158G>A (p.Gly1053Asp)
c.3445G>A (p.Ala1149Thr)
n.1506G>A
c.878G>A (p.Gly293Asp)
c.3290G>A (p.Gly1097Asp)
c.3287G>A (p.Gly1096Asp)
c.3275G>A (p.Gly1092Asp)
c.3263G>A (p.Gly1088Asp)
c.3230G>A (p.Gly1077Asp)
c.3173G>A (p.Gly1058Asp)
c.3272G>A (p.Gly1091Asp)
c.3248G>A (p.Gly1083Asp)
c.3083G>A (p.Gly1028Asp)
c.3442G>A (p.Ala1148Thr)
c.3418G>A (p.Ala1140Thr)
c.3415G>A (p.Ala1139Thr)
c.3343G>A (p.Ala1115Thr)
c.3328G>A (p.Ala1110Thr)
c.3253G>A (p.Ala1085Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986305C>ACA338232397ATP13A2c.3459G>T (p.Arg1153=)
c.3157G>T (p.Gly1053Cys)
c.3444G>T (p.Arg1148=)
n.1505G>T
c.877G>T (p.Gly293Cys)
c.3289G>T (p.Gly1097Cys)
c.3286G>T (p.Gly1096Cys)
c.3274G>T (p.Gly1092Cys)
c.3262G>T (p.Gly1088Cys)
c.3229G>T (p.Gly1077Cys)
c.3172G>T (p.Gly1058Cys)
c.3271G>T (p.Gly1091Cys)
c.3247G>T (p.Gly1083Cys)
c.3082G>T (p.Gly1028Cys)
c.3441G>T (p.Arg1147=)
c.3417G>T (p.Arg1139=)
c.3414G>T (p.Arg1138=)
c.3342G>T (p.Arg1114=)
c.3327G>T (p.Arg1109=)
c.3252G>T (p.Arg1084=)
1g.16986305C=CA1156049502ATP13A2c.3459G= (p.Arg1153=)
c.3157G= (p.Gly1053=)
c.3444G= (p.Arg1148=)
n.1505G=
c.877G= (p.Gly293=)
c.3289G= (p.Gly1097=)
c.3286G= (p.Gly1096=)
c.3274G= (p.Gly1092=)
c.3262G= (p.Gly1088=)
c.3229G= (p.Gly1077=)
c.3172G= (p.Gly1058=)
c.3271G= (p.Gly1091=)
c.3247G= (p.Gly1083=)
c.3082G= (p.Gly1028=)
c.3441G= (p.Arg1147=)
c.3417G= (p.Arg1139=)
c.3414G= (p.Arg1138=)
c.3342G= (p.Arg1114=)
c.3327G= (p.Arg1109=)
c.3252G= (p.Arg1084=)
1g.16986305C>GCA338232395ATP13A2c.3459G>C (p.Arg1153=)
c.3157G>C (p.Gly1053Arg)
c.3444G>C (p.Arg1148=)
n.1505G>C
c.877G>C (p.Gly293Arg)
c.3289G>C (p.Gly1097Arg)
c.3286G>C (p.Gly1096Arg)
c.3274G>C (p.Gly1092Arg)
c.3262G>C (p.Gly1088Arg)
c.3229G>C (p.Gly1077Arg)
c.3172G>C (p.Gly1058Arg)
c.3271G>C (p.Gly1091Arg)
c.3247G>C (p.Gly1083Arg)
c.3082G>C (p.Gly1028Arg)
c.3441G>C (p.Arg1147=)
c.3417G>C (p.Arg1139=)
c.3414G>C (p.Arg1138=)
c.3342G>C (p.Arg1114=)
c.3327G>C (p.Arg1109=)
c.3252G>C (p.Arg1084=)
1g.16986305C>TCA636477ATP13A2c.3459G>A (p.Arg1153=)
c.3157G>A (p.Gly1053Ser)
c.3444G>A (p.Arg1148=)
n.1505G>A
c.877G>A (p.Gly293Ser)
c.3289G>A (p.Gly1097Ser)
c.3286G>A (p.Gly1096Ser)
c.3274G>A (p.Gly1092Ser)
c.3262G>A (p.Gly1088Ser)
c.3229G>A (p.Gly1077Ser)
c.3172G>A (p.Gly1058Ser)
c.3271G>A (p.Gly1091Ser)
c.3247G>A (p.Gly1083Ser)
c.3082G>A (p.Gly1028Ser)
c.3441G>A (p.Arg1147=)
c.3417G>A (p.Arg1139=)
c.3414G>A (p.Arg1138=)
c.3342G>A (p.Arg1114=)
c.3327G>A (p.Arg1109=)
c.3252G>A (p.Arg1084=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986306C>ACA338232398ATP13A2c.3458G>T (p.Arg1153Leu)
c.3156G>T (p.Ala1052=)
c.3443G>T (p.Arg1148Leu)
n.1504G>T
c.876G>T (p.Ala292=)
c.3288G>T (p.Ala1096=)
c.3285G>T (p.Ala1095=)
c.3273G>T (p.Ala1091=)
c.3261G>T (p.Ala1087=)
c.3228G>T (p.Ala1076=)
c.3171G>T (p.Ala1057=)
c.3270G>T (p.Ala1090=)
c.3246G>T (p.Ala1082=)
c.3081G>T (p.Ala1027=)
c.3440G>T (p.Arg1147Leu)
c.3416G>T (p.Arg1139Leu)
c.3413G>T (p.Arg1138Leu)
c.3341G>T (p.Arg1114Leu)
c.3326G>T (p.Arg1109Leu)
c.3251G>T (p.Arg1084Leu)
 gnomAD v4
1g.16986306C=CA1156049511ATP13A2c.3458G= (p.Arg1153=)
c.3156G= (p.Ala1052=)
c.3443G= (p.Arg1148=)
n.1504G=
c.876G= (p.Ala292=)
c.3288G= (p.Ala1096=)
c.3285G= (p.Ala1095=)
c.3273G= (p.Ala1091=)
c.3261G= (p.Ala1087=)
c.3228G= (p.Ala1076=)
c.3171G= (p.Ala1057=)
c.3270G= (p.Ala1090=)
c.3246G= (p.Ala1082=)
c.3081G= (p.Ala1027=)
c.3440G= (p.Arg1147=)
c.3416G= (p.Arg1139=)
c.3413G= (p.Arg1138=)
c.3341G= (p.Arg1114=)
c.3326G= (p.Arg1109=)
c.3251G= (p.Arg1084=)
1g.16986306C>GCA338232399ATP13A2c.3458G>C (p.Arg1153Pro)
c.3156G>C (p.Ala1052=)
c.3443G>C (p.Arg1148Pro)
n.1504G>C
c.876G>C (p.Ala292=)
c.3288G>C (p.Ala1096=)
c.3285G>C (p.Ala1095=)
c.3273G>C (p.Ala1091=)
c.3261G>C (p.Ala1087=)
c.3228G>C (p.Ala1076=)
c.3171G>C (p.Ala1057=)
c.3270G>C (p.Ala1090=)
c.3246G>C (p.Ala1082=)
c.3081G>C (p.Ala1027=)
c.3440G>C (p.Arg1147Pro)
c.3416G>C (p.Arg1139Pro)
c.3413G>C (p.Arg1138Pro)
c.3341G>C (p.Arg1114Pro)
c.3326G>C (p.Arg1109Pro)
c.3251G>C (p.Arg1084Pro)
 ClinVar dbSNP gnomAD v4
1g.16986306C>TCA636478ATP13A2c.3458G>A (p.Arg1153Gln)
c.3156G>A (p.Ala1052=)
c.3443G>A (p.Arg1148Gln)
n.1504G>A
c.876G>A (p.Ala292=)
c.3288G>A (p.Ala1096=)
c.3285G>A (p.Ala1095=)
c.3273G>A (p.Ala1091=)
c.3261G>A (p.Ala1087=)
c.3228G>A (p.Ala1076=)
c.3171G>A (p.Ala1057=)
c.3270G>A (p.Ala1090=)
c.3246G>A (p.Ala1082=)
c.3081G>A (p.Ala1027=)
c.3440G>A (p.Arg1147Gln)
c.3416G>A (p.Arg1139Gln)
c.3413G>A (p.Arg1138Gln)
c.3341G>A (p.Arg1114Gln)
c.3326G>A (p.Arg1109Gln)
c.3251G>A (p.Arg1084Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986307G>ACA338232402ATP13A2c.3457C>T (p.Arg1153Trp)
c.3155C>T (p.Ala1052Val)
c.3442C>T (p.Arg1148Trp)
n.1503C>T
c.875C>T (p.Ala292Val)
c.3287C>T (p.Ala1096Val)
c.3284C>T (p.Ala1095Val)
c.3272C>T (p.Ala1091Val)
c.3260C>T (p.Ala1087Val)
c.3227C>T (p.Ala1076Val)
c.3170C>T (p.Ala1057Val)
c.3269C>T (p.Ala1090Val)
c.3245C>T (p.Ala1082Val)
c.3080C>T (p.Ala1027Val)
c.3439C>T (p.Arg1147Trp)
c.3415C>T (p.Arg1139Trp)
c.3412C>T (p.Arg1138Trp)
c.3340C>T (p.Arg1114Trp)
c.3325C>T (p.Arg1109Trp)
c.3250C>T (p.Arg1084Trp)
 dbSNP gnomAD v2 gnomAD v4
1g.16986307G>CCA338232401ATP13A2c.3457C>G (p.Arg1153Gly)
c.3155C>G (p.Ala1052Gly)
c.3442C>G (p.Arg1148Gly)
n.1503C>G
c.875C>G (p.Ala292Gly)
c.3287C>G (p.Ala1096Gly)
c.3284C>G (p.Ala1095Gly)
c.3272C>G (p.Ala1091Gly)
c.3260C>G (p.Ala1087Gly)
c.3227C>G (p.Ala1076Gly)
c.3170C>G (p.Ala1057Gly)
c.3269C>G (p.Ala1090Gly)
c.3245C>G (p.Ala1082Gly)
c.3080C>G (p.Ala1027Gly)
c.3439C>G (p.Arg1147Gly)
c.3415C>G (p.Arg1139Gly)
c.3412C>G (p.Arg1138Gly)
c.3340C>G (p.Arg1114Gly)
c.3325C>G (p.Arg1109Gly)
c.3250C>G (p.Arg1084Gly)
1g.16986307G=CA1156049520ATP13A2c.3457C= (p.Arg1153=)
c.3155C= (p.Ala1052=)
c.3442C= (p.Arg1148=)
n.1503C=
c.875C= (p.Ala292=)
c.3287C= (p.Ala1096=)
c.3284C= (p.Ala1095=)
c.3272C= (p.Ala1091=)
c.3260C= (p.Ala1087=)
c.3227C= (p.Ala1076=)
c.3170C= (p.Ala1057=)
c.3269C= (p.Ala1090=)
c.3245C= (p.Ala1082=)
c.3080C= (p.Ala1027=)
c.3439C= (p.Arg1147=)
c.3415C= (p.Arg1139=)
c.3412C= (p.Arg1138=)
c.3340C= (p.Arg1114=)
c.3325C= (p.Arg1109=)
c.3250C= (p.Arg1084=)
1g.16986307G>TCA338232400ATP13A2c.3457C>A (p.Arg1153=)
c.3155C>A (p.Ala1052Glu)
c.3442C>A (p.Arg1148=)
n.1503C>A
c.875C>A (p.Ala292Glu)
c.3287C>A (p.Ala1096Glu)
c.3284C>A (p.Ala1095Glu)
c.3272C>A (p.Ala1091Glu)
c.3260C>A (p.Ala1087Glu)
c.3227C>A (p.Ala1076Glu)
c.3170C>A (p.Ala1057Glu)
c.3269C>A (p.Ala1090Glu)
c.3245C>A (p.Ala1082Glu)
c.3080C>A (p.Ala1027Glu)
c.3439C>A (p.Arg1147=)
c.3415C>A (p.Arg1139=)
c.3412C>A (p.Arg1138=)
c.3340C>A (p.Arg1114=)
c.3325C>A (p.Arg1109=)
c.3250C>A (p.Arg1084=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.16986308C>ACA338232403ATP13A2c.3456G>T (p.Lys1152Asn)
c.3154G>T (p.Ala1052Ser)
c.3441G>T (p.Lys1147Asn)
n.1502G>T
c.874G>T (p.Ala292Ser)
c.3286G>T (p.Ala1096Ser)
c.3283G>T (p.Ala1095Ser)
c.3271G>T (p.Ala1091Ser)
c.3259G>T (p.Ala1087Ser)
c.3226G>T (p.Ala1076Ser)
c.3169G>T (p.Ala1057Ser)
c.3268G>T (p.Ala1090Ser)
c.3244G>T (p.Ala1082Ser)
c.3079G>T (p.Ala1027Ser)
c.3438G>T (p.Lys1146Asn)
c.3414G>T (p.Lys1138Asn)
c.3411G>T (p.Lys1137Asn)
c.3339G>T (p.Lys1113Asn)
c.3324G>T (p.Lys1108Asn)
c.3249G>T (p.Lys1083Asn)
 gnomAD v4
1g.16986308C=CA1156049527ATP13A2c.3456G= (p.Lys1152=)
c.3154G= (p.Ala1052=)
c.3441G= (p.Lys1147=)
n.1502G=
c.874G= (p.Ala292=)
c.3286G= (p.Ala1096=)
c.3283G= (p.Ala1095=)
c.3271G= (p.Ala1091=)
c.3259G= (p.Ala1087=)
c.3226G= (p.Ala1076=)
c.3169G= (p.Ala1057=)
c.3268G= (p.Ala1090=)
c.3244G= (p.Ala1082=)
c.3079G= (p.Ala1027=)
c.3438G= (p.Lys1146=)
c.3414G= (p.Lys1138=)
c.3411G= (p.Lys1137=)
c.3339G= (p.Lys1113=)
c.3324G= (p.Lys1108=)
c.3249G= (p.Lys1083=)
1g.16986308C>GCA18624748ATP13A2c.3456G>C (p.Lys1152Asn)
c.3154G>C (p.Ala1052Pro)
c.3441G>C (p.Lys1147Asn)
n.1502G>C
c.874G>C (p.Ala292Pro)
c.3286G>C (p.Ala1096Pro)
c.3283G>C (p.Ala1095Pro)
c.3271G>C (p.Ala1091Pro)
c.3259G>C (p.Ala1087Pro)
c.3226G>C (p.Ala1076Pro)
c.3169G>C (p.Ala1057Pro)
c.3268G>C (p.Ala1090Pro)
c.3244G>C (p.Ala1082Pro)
c.3079G>C (p.Ala1027Pro)
c.3438G>C (p.Lys1146Asn)
c.3414G>C (p.Lys1138Asn)
c.3411G>C (p.Lys1137Asn)
c.3339G>C (p.Lys1113Asn)
c.3324G>C (p.Lys1108Asn)
c.3249G>C (p.Lys1083Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986308C>TCA338232404ATP13A2c.3456G>A (p.Lys1152=)
c.3154G>A (p.Ala1052Thr)
c.3441G>A (p.Lys1147=)
n.1502G>A
c.874G>A (p.Ala292Thr)
c.3286G>A (p.Ala1096Thr)
c.3283G>A (p.Ala1095Thr)
c.3271G>A (p.Ala1091Thr)
c.3259G>A (p.Ala1087Thr)
c.3226G>A (p.Ala1076Thr)
c.3169G>A (p.Ala1057Thr)
c.3268G>A (p.Ala1090Thr)
c.3244G>A (p.Ala1082Thr)
c.3079G>A (p.Ala1027Thr)
c.3438G>A (p.Lys1146=)
c.3414G>A (p.Lys1138=)
c.3411G>A (p.Lys1137=)
c.3339G>A (p.Lys1113=)
c.3324G>A (p.Lys1108=)
c.3249G>A (p.Lys1083=)
1g.16986309T>ACA338232405ATP13A2c.3455A>T (p.Lys1152Met)
c.3153A>T (p.Gln1051His)
c.3440A>T (p.Lys1147Met)
n.1501A>T
c.873A>T (p.Gln291His)
c.3285A>T (p.Gln1095His)
c.3282A>T (p.Gln1094His)
c.3270A>T (p.Gln1090His)
c.3258A>T (p.Gln1086His)
c.3225A>T (p.Gln1075His)
c.3168A>T (p.Gln1056His)
c.3267A>T (p.Gln1089His)
c.3243A>T (p.Gln1081His)
c.3078A>T (p.Gln1026His)
c.3437A>T (p.Lys1146Met)
c.3413A>T (p.Lys1138Met)
c.3410A>T (p.Lys1137Met)
c.3338A>T (p.Lys1113Met)
c.3323A>T (p.Lys1108Met)
c.3248A>T (p.Lys1083Met)
1g.16986309T>CCA338232406ATP13A2c.3455A>G (p.Lys1152Arg)
c.3153A>G (p.Gln1051=)
c.3440A>G (p.Lys1147Arg)
n.1501A>G
c.873A>G (p.Gln291=)
c.3285A>G (p.Gln1095=)
c.3282A>G (p.Gln1094=)
c.3270A>G (p.Gln1090=)
c.3258A>G (p.Gln1086=)
c.3225A>G (p.Gln1075=)
c.3168A>G (p.Gln1056=)
c.3267A>G (p.Gln1089=)
c.3243A>G (p.Gln1081=)
c.3078A>G (p.Gln1026=)
c.3437A>G (p.Lys1146Arg)
c.3413A>G (p.Lys1138Arg)
c.3410A>G (p.Lys1137Arg)
c.3338A>G (p.Lys1113Arg)
c.3323A>G (p.Lys1108Arg)
c.3248A>G (p.Lys1083Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.16986309T>GCA338232407ATP13A2c.3455A>C (p.Lys1152Thr)
c.3153A>C (p.Gln1051His)
c.3440A>C (p.Lys1147Thr)
n.1501A>C
c.873A>C (p.Gln291His)
c.3285A>C (p.Gln1095His)
c.3282A>C (p.Gln1094His)
c.3270A>C (p.Gln1090His)
c.3258A>C (p.Gln1086His)
c.3225A>C (p.Gln1075His)
c.3168A>C (p.Gln1056His)
c.3267A>C (p.Gln1089His)
c.3243A>C (p.Gln1081His)
c.3078A>C (p.Gln1026His)
c.3437A>C (p.Lys1146Thr)
c.3413A>C (p.Lys1138Thr)
c.3410A>C (p.Lys1137Thr)
c.3338A>C (p.Lys1113Thr)
c.3323A>C (p.Lys1108Thr)
c.3248A>C (p.Lys1083Thr)
1g.16986309T=CA1156049529ATP13A2c.3455A= (p.Lys1152=)
c.3153A= (p.Gln1051=)
c.3440A= (p.Lys1147=)
n.1501A=
c.873A= (p.Gln291=)
c.3285A= (p.Gln1095=)
c.3282A= (p.Gln1094=)
c.3270A= (p.Gln1090=)
c.3258A= (p.Gln1086=)
c.3225A= (p.Gln1075=)
c.3168A= (p.Gln1056=)
c.3267A= (p.Gln1089=)
c.3243A= (p.Gln1081=)
c.3078A= (p.Gln1026=)
c.3437A= (p.Lys1146=)
c.3413A= (p.Lys1138=)
c.3410A= (p.Lys1137=)
c.3338A= (p.Lys1113=)
c.3323A= (p.Lys1108=)
c.3248A= (p.Lys1083=)
1g.16986310T>ACA338232408ATP13A2c.3454A>T (p.Lys1152Ter)
c.3152A>T (p.Gln1051Leu)
c.3439A>T (p.Lys1147Ter)
n.1500A>T
c.872A>T (p.Gln291Leu)
c.3284A>T (p.Gln1095Leu)
c.3281A>T (p.Gln1094Leu)
c.3269A>T (p.Gln1090Leu)
c.3257A>T (p.Gln1086Leu)
c.3224A>T (p.Gln1075Leu)
c.3167A>T (p.Gln1056Leu)
c.3266A>T (p.Gln1089Leu)
c.3242A>T (p.Gln1081Leu)
c.3077A>T (p.Gln1026Leu)
c.3436A>T (p.Lys1146Ter)
c.3412A>T (p.Lys1138Ter)
c.3409A>T (p.Lys1137Ter)
c.3337A>T (p.Lys1113Ter)
c.3322A>T (p.Lys1108Ter)
c.3247A>T (p.Lys1083Ter)
1g.16986310T>CCA338232410ATP13A2c.3454A>G (p.Lys1152Glu)
c.3152A>G (p.Gln1051Arg)
c.3439A>G (p.Lys1147Glu)
n.1500A>G
c.872A>G (p.Gln291Arg)
c.3284A>G (p.Gln1095Arg)
c.3281A>G (p.Gln1094Arg)
c.3269A>G (p.Gln1090Arg)
c.3257A>G (p.Gln1086Arg)
c.3224A>G (p.Gln1075Arg)
c.3167A>G (p.Gln1056Arg)
c.3266A>G (p.Gln1089Arg)
c.3242A>G (p.Gln1081Arg)
c.3077A>G (p.Gln1026Arg)
c.3436A>G (p.Lys1146Glu)
c.3412A>G (p.Lys1138Glu)
c.3409A>G (p.Lys1137Glu)
c.3337A>G (p.Lys1113Glu)
c.3322A>G (p.Lys1108Glu)
c.3247A>G (p.Lys1083Glu)
1g.16986310T>GCA338232409ATP13A2c.3454A>C (p.Lys1152Gln)
c.3152A>C (p.Gln1051Pro)
c.3439A>C (p.Lys1147Gln)
n.1500A>C
c.872A>C (p.Gln291Pro)
c.3284A>C (p.Gln1095Pro)
c.3281A>C (p.Gln1094Pro)
c.3269A>C (p.Gln1090Pro)
c.3257A>C (p.Gln1086Pro)
c.3224A>C (p.Gln1075Pro)
c.3167A>C (p.Gln1056Pro)
c.3266A>C (p.Gln1089Pro)
c.3242A>C (p.Gln1081Pro)
c.3077A>C (p.Gln1026Pro)
c.3436A>C (p.Lys1146Gln)
c.3412A>C (p.Lys1138Gln)
c.3409A>C (p.Lys1137Gln)
c.3337A>C (p.Lys1113Gln)
c.3322A>C (p.Lys1108Gln)
c.3247A>C (p.Lys1083Gln)
1g.16986311G>ACA338232411ATP13A2c.3453C>T (p.Pro1151=)
c.3151C>T (p.Gln1051Ter)
c.3438C>T (p.Pro1146=)
n.1499C>T
c.871C>T (p.Gln291Ter)
c.3283C>T (p.Gln1095Ter)
c.3280C>T (p.Gln1094Ter)
c.3268C>T (p.Gln1090Ter)
c.3256C>T (p.Gln1086Ter)
c.3223C>T (p.Gln1075Ter)
c.3166C>T (p.Gln1056Ter)
c.3265C>T (p.Gln1089Ter)
c.3241C>T (p.Gln1081Ter)
c.3076C>T (p.Gln1026Ter)
c.3435C>T (p.Pro1145=)
c.3411C>T (p.Pro1137=)
c.3408C>T (p.Pro1136=)
c.3336C>T (p.Pro1112=)
c.3321C>T (p.Pro1107=)
c.3246C>T (p.Pro1082=)
 dbSNP gnomAD v2 gnomAD v4
1g.16986311G>CCA338232412ATP13A2c.3453C>G (p.Pro1151=)
c.3151C>G (p.Gln1051Glu)
c.3438C>G (p.Pro1146=)
n.1499C>G
c.871C>G (p.Gln291Glu)
c.3283C>G (p.Gln1095Glu)
c.3280C>G (p.Gln1094Glu)
c.3268C>G (p.Gln1090Glu)
c.3256C>G (p.Gln1086Glu)
c.3223C>G (p.Gln1075Glu)
c.3166C>G (p.Gln1056Glu)
c.3265C>G (p.Gln1089Glu)
c.3241C>G (p.Gln1081Glu)
c.3076C>G (p.Gln1026Glu)
c.3435C>G (p.Pro1145=)
c.3411C>G (p.Pro1137=)
c.3408C>G (p.Pro1136=)
c.3336C>G (p.Pro1112=)
c.3321C>G (p.Pro1107=)
c.3246C>G (p.Pro1082=)
1g.16986311G=CA1143374023ATP13A2c.3453C= (p.Pro1151=)
c.3151C= (p.Gln1051=)
c.3438C= (p.Pro1146=)
n.1499C=
c.871C= (p.Gln291=)
c.3283C= (p.Gln1095=)
c.3280C= (p.Gln1094=)
c.3268C= (p.Gln1090=)
c.3256C= (p.Gln1086=)
c.3223C= (p.Gln1075=)
c.3166C= (p.Gln1056=)
c.3265C= (p.Gln1089=)
c.3241C= (p.Gln1081=)
c.3076C= (p.Gln1026=)
c.3435C= (p.Pro1145=)
c.3411C= (p.Pro1137=)
c.3408C= (p.Pro1136=)
c.3336C= (p.Pro1112=)
c.3321C= (p.Pro1107=)
c.3246C= (p.Pro1082=)
1g.16986311G>TCA18624750ATP13A2c.3453C>A (p.Pro1151=)
c.3151C>A (p.Gln1051Lys)
c.3438C>A (p.Pro1146=)
n.1499C>A
c.871C>A (p.Gln291Lys)
c.3283C>A (p.Gln1095Lys)
c.3280C>A (p.Gln1094Lys)
c.3268C>A (p.Gln1090Lys)
c.3256C>A (p.Gln1086Lys)
c.3223C>A (p.Gln1075Lys)
c.3166C>A (p.Gln1056Lys)
c.3265C>A (p.Gln1089Lys)
c.3241C>A (p.Gln1081Lys)
c.3076C>A (p.Gln1026Lys)
c.3435C>A (p.Pro1145=)
c.3411C>A (p.Pro1137=)
c.3408C>A (p.Pro1136=)
c.3336C>A (p.Pro1112=)
c.3321C>A (p.Pro1107=)
c.3246C>A (p.Pro1082=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986312G>ACA338232413ATP13A2c.3452C>T (p.Pro1151Leu)
c.3150C>T (p.Ala1050=)
c.3437C>T (p.Pro1146Leu)
n.1498C>T
c.870C>T (p.Ala290=)
c.3282C>T (p.Ala1094=)
c.3279C>T (p.Ala1093=)
c.3267C>T (p.Ala1089=)
c.3255C>T (p.Ala1085=)
c.3222C>T (p.Ala1074=)
c.3165C>T (p.Ala1055=)
c.3264C>T (p.Ala1088=)
c.3240C>T (p.Ala1080=)
c.3075C>T (p.Ala1025=)
c.3434C>T (p.Pro1145Leu)
c.3410C>T (p.Pro1137Leu)
c.3407C>T (p.Pro1136Leu)
c.3335C>T (p.Pro1112Leu)
c.3320C>T (p.Pro1107Leu)
c.3245C>T (p.Pro1082Leu)
 COSMIC COSMIC
1g.16986312G>CCA338232414ATP13A2c.3452C>G (p.Pro1151Arg)
c.3150C>G (p.Ala1050=)
c.3437C>G (p.Pro1146Arg)
n.1498C>G
c.870C>G (p.Ala290=)
c.3282C>G (p.Ala1094=)
c.3279C>G (p.Ala1093=)
c.3267C>G (p.Ala1089=)
c.3255C>G (p.Ala1085=)
c.3222C>G (p.Ala1074=)
c.3165C>G (p.Ala1055=)
c.3264C>G (p.Ala1088=)
c.3240C>G (p.Ala1080=)
c.3075C>G (p.Ala1025=)
c.3434C>G (p.Pro1145Arg)
c.3410C>G (p.Pro1137Arg)
c.3407C>G (p.Pro1136Arg)
c.3335C>G (p.Pro1112Arg)
c.3320C>G (p.Pro1107Arg)
c.3245C>G (p.Pro1082Arg)
1g.16986312G>TCA338232415ATP13A2c.3452C>A (p.Pro1151His)
c.3150C>A (p.Ala1050=)
c.3437C>A (p.Pro1146His)
n.1498C>A
c.870C>A (p.Ala290=)
c.3282C>A (p.Ala1094=)
c.3279C>A (p.Ala1093=)
c.3267C>A (p.Ala1089=)
c.3255C>A (p.Ala1085=)
c.3222C>A (p.Ala1074=)
c.3165C>A (p.Ala1055=)
c.3264C>A (p.Ala1088=)
c.3240C>A (p.Ala1080=)
c.3075C>A (p.Ala1025=)
c.3434C>A (p.Pro1145His)
c.3410C>A (p.Pro1137His)
c.3407C>A (p.Pro1136His)
c.3335C>A (p.Pro1112His)
c.3320C>A (p.Pro1107His)
c.3245C>A (p.Pro1082His)
1g.16986313G>ACA338232416ATP13A2c.3451C>T (p.Pro1151Ser)
c.3149C>T (p.Ala1050Val)
c.3436C>T (p.Pro1146Ser)
n.1497C>T
c.869C>T (p.Ala290Val)
c.3281C>T (p.Ala1094Val)
c.3278C>T (p.Ala1093Val)
c.3266C>T (p.Ala1089Val)
c.3254C>T (p.Ala1085Val)
c.3221C>T (p.Ala1074Val)
c.3164C>T (p.Ala1055Val)
c.3263C>T (p.Ala1088Val)
c.3239C>T (p.Ala1080Val)
c.3074C>T (p.Ala1025Val)
c.3433C>T (p.Pro1145Ser)
c.3409C>T (p.Pro1137Ser)
c.3406C>T (p.Pro1136Ser)
c.3334C>T (p.Pro1112Ser)
c.3319C>T (p.Pro1107Ser)
c.3244C>T (p.Pro1082Ser)
1g.16986313G>CCA338232417ATP13A2c.3451C>G (p.Pro1151Ala)
c.3149C>G (p.Ala1050Gly)
c.3436C>G (p.Pro1146Ala)
n.1497C>G
c.869C>G (p.Ala290Gly)
c.3281C>G (p.Ala1094Gly)
c.3278C>G (p.Ala1093Gly)
c.3266C>G (p.Ala1089Gly)
c.3254C>G (p.Ala1085Gly)
c.3221C>G (p.Ala1074Gly)
c.3164C>G (p.Ala1055Gly)
c.3263C>G (p.Ala1088Gly)
c.3239C>G (p.Ala1080Gly)
c.3074C>G (p.Ala1025Gly)
c.3433C>G (p.Pro1145Ala)
c.3409C>G (p.Pro1137Ala)
c.3406C>G (p.Pro1136Ala)
c.3334C>G (p.Pro1112Ala)
c.3319C>G (p.Pro1107Ala)
c.3244C>G (p.Pro1082Ala)
1g.16986313G>TCA338232418ATP13A2c.3451C>A (p.Pro1151Thr)
c.3149C>A (p.Ala1050Asp)
c.3436C>A (p.Pro1146Thr)
n.1497C>A
c.869C>A (p.Ala290Asp)
c.3281C>A (p.Ala1094Asp)
c.3278C>A (p.Ala1093Asp)
c.3266C>A (p.Ala1089Asp)
c.3254C>A (p.Ala1085Asp)
c.3221C>A (p.Ala1074Asp)
c.3164C>A (p.Ala1055Asp)
c.3263C>A (p.Ala1088Asp)
c.3239C>A (p.Ala1080Asp)
c.3074C>A (p.Ala1025Asp)
c.3433C>A (p.Pro1145Thr)
c.3409C>A (p.Pro1137Thr)
c.3406C>A (p.Pro1136Thr)
c.3334C>A (p.Pro1112Thr)
c.3319C>A (p.Pro1107Thr)
c.3244C>A (p.Pro1082Thr)
1g.16986314C>ACA338232419ATP13A2c.3450G>T (p.Arg1150=)
c.3148G>T (p.Ala1050Ser)
c.3435G>T (p.Arg1145=)
n.1496G>T
c.868G>T (p.Ala290Ser)
c.3280G>T (p.Ala1094Ser)
c.3277G>T (p.Ala1093Ser)
c.3265G>T (p.Ala1089Ser)
c.3253G>T (p.Ala1085Ser)
c.3220G>T (p.Ala1074Ser)
c.3163G>T (p.Ala1055Ser)
c.3262G>T (p.Ala1088Ser)
c.3238G>T (p.Ala1080Ser)
c.3073G>T (p.Ala1025Ser)
c.3432G>T (p.Arg1144=)
c.3408G>T (p.Arg1136=)
c.3405G>T (p.Arg1135=)
c.3333G>T (p.Arg1111=)
c.3318G>T (p.Arg1106=)
c.3243G>T (p.Arg1081=)
 gnomAD v4
1g.16986314C>GCA338232420ATP13A2c.3450G>C (p.Arg1150=)
c.3148G>C (p.Ala1050Pro)
c.3435G>C (p.Arg1145=)
n.1496G>C
c.868G>C (p.Ala290Pro)
c.3280G>C (p.Ala1094Pro)
c.3277G>C (p.Ala1093Pro)
c.3265G>C (p.Ala1089Pro)
c.3253G>C (p.Ala1085Pro)
c.3220G>C (p.Ala1074Pro)
c.3163G>C (p.Ala1055Pro)
c.3262G>C (p.Ala1088Pro)
c.3238G>C (p.Ala1080Pro)
c.3073G>C (p.Ala1025Pro)
c.3432G>C (p.Arg1144=)
c.3408G>C (p.Arg1136=)
c.3405G>C (p.Arg1135=)
c.3333G>C (p.Arg1111=)
c.3318G>C (p.Arg1106=)
c.3243G>C (p.Arg1081=)
 gnomAD v4
1g.16986314C>TCA338232421ATP13A2c.3450G>A (p.Arg1150=)
c.3148G>A (p.Ala1050Thr)
c.3435G>A (p.Arg1145=)
n.1496G>A
c.868G>A (p.Ala290Thr)
c.3280G>A (p.Ala1094Thr)
c.3277G>A (p.Ala1093Thr)
c.3265G>A (p.Ala1089Thr)
c.3253G>A (p.Ala1085Thr)
c.3220G>A (p.Ala1074Thr)
c.3163G>A (p.Ala1055Thr)
c.3262G>A (p.Ala1088Thr)
c.3238G>A (p.Ala1080Thr)
c.3073G>A (p.Ala1025Thr)
c.3432G>A (p.Arg1144=)
c.3408G>A (p.Arg1136=)
c.3405G>A (p.Arg1135=)
c.3333G>A (p.Arg1111=)
c.3318G>A (p.Arg1106=)
c.3243G>A (p.Arg1081=)
1g.16986315C>ACA338232422ATP13A2c.3449G>T (p.Arg1150Leu)
c.3147G>T (p.Pro1049=)
c.3434G>T (p.Arg1145Leu)
n.1495G>T
c.867G>T (p.Pro289=)
c.3279G>T (p.Pro1093=)
c.3276G>T (p.Pro1092=)
c.3264G>T (p.Pro1088=)
c.3252G>T (p.Pro1084=)
c.3219G>T (p.Pro1073=)
c.3162G>T (p.Pro1054=)
c.3261G>T (p.Pro1087=)
c.3237G>T (p.Pro1079=)
c.3072G>T (p.Pro1024=)
c.3431G>T (p.Arg1144Leu)
c.3407G>T (p.Arg1136Leu)
c.3404G>T (p.Arg1135Leu)
c.3332G>T (p.Arg1111Leu)
c.3317G>T (p.Arg1106Leu)
c.3242G>T (p.Arg1081Leu)
 dbSNP gnomAD v4 COSMIC
1g.16986315C=CA1156049533ATP13A2c.3449G= (p.Arg1150=)
c.3147G= (p.Pro1049=)
c.3434G= (p.Arg1145=)
n.1495G=
c.867G= (p.Pro289=)
c.3279G= (p.Pro1093=)
c.3276G= (p.Pro1092=)
c.3264G= (p.Pro1088=)
c.3252G= (p.Pro1084=)
c.3219G= (p.Pro1073=)
c.3162G= (p.Pro1054=)
c.3261G= (p.Pro1087=)
c.3237G= (p.Pro1079=)
c.3072G= (p.Pro1024=)
c.3431G= (p.Arg1144=)
c.3407G= (p.Arg1136=)
c.3404G= (p.Arg1135=)
c.3332G= (p.Arg1111=)
c.3317G= (p.Arg1106=)
c.3242G= (p.Arg1081=)
1g.16986315C>GCA338232423ATP13A2c.3449G>C (p.Arg1150Pro)
c.3147G>C (p.Pro1049=)
c.3434G>C (p.Arg1145Pro)
n.1495G>C
c.867G>C (p.Pro289=)
c.3279G>C (p.Pro1093=)
c.3276G>C (p.Pro1092=)
c.3264G>C (p.Pro1088=)
c.3252G>C (p.Pro1084=)
c.3219G>C (p.Pro1073=)
c.3162G>C (p.Pro1054=)
c.3261G>C (p.Pro1087=)
c.3237G>C (p.Pro1079=)
c.3072G>C (p.Pro1024=)
c.3431G>C (p.Arg1144Pro)
c.3407G>C (p.Arg1136Pro)
c.3404G>C (p.Arg1135Pro)
c.3332G>C (p.Arg1111Pro)
c.3317G>C (p.Arg1106Pro)
c.3242G>C (p.Arg1081Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.16986315C>TCA636479ATP13A2c.3449G>A (p.Arg1150Gln)
c.3147G>A (p.Pro1049=)
c.3434G>A (p.Arg1145Gln)
n.1495G>A
c.867G>A (p.Pro289=)
c.3279G>A (p.Pro1093=)
c.3276G>A (p.Pro1092=)
c.3264G>A (p.Pro1088=)
c.3252G>A (p.Pro1084=)
c.3219G>A (p.Pro1073=)
c.3162G>A (p.Pro1054=)
c.3261G>A (p.Pro1087=)
c.3237G>A (p.Pro1079=)
c.3072G>A (p.Pro1024=)
c.3431G>A (p.Arg1144Gln)
c.3407G>A (p.Arg1136Gln)
c.3404G>A (p.Arg1135Gln)
c.3332G>A (p.Arg1111Gln)
c.3317G>A (p.Arg1106Gln)
c.3242G>A (p.Arg1081Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986316G>ACA636480ATP13A2c.3448C>T (p.Arg1150Trp)
c.3146C>T (p.Pro1049Leu)
c.3433C>T (p.Arg1145Trp)
n.1494C>T
c.866C>T (p.Pro289Leu)
c.3278C>T (p.Pro1093Leu)
c.3275C>T (p.Pro1092Leu)
c.3263C>T (p.Pro1088Leu)
c.3251C>T (p.Pro1084Leu)
c.3218C>T (p.Pro1073Leu)
c.3161C>T (p.Pro1054Leu)
c.3260C>T (p.Pro1087Leu)
c.3236C>T (p.Pro1079Leu)
c.3071C>T (p.Pro1024Leu)
c.3430C>T (p.Arg1144Trp)
c.3406C>T (p.Arg1136Trp)
c.3403C>T (p.Arg1135Trp)
c.3331C>T (p.Arg1111Trp)
c.3316C>T (p.Arg1106Trp)
c.3241C>T (p.Arg1081Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.16986316G>CCA338232424ATP13A2c.3448C>G (p.Arg1150Gly)
c.3146C>G (p.Pro1049Arg)
c.3433C>G (p.Arg1145Gly)
n.1494C>G
c.866C>G (p.Pro289Arg)
c.3278C>G (p.Pro1093Arg)
c.3275C>G (p.Pro1092Arg)
c.3263C>G (p.Pro1088Arg)
c.3251C>G (p.Pro1084Arg)
c.3218C>G (p.Pro1073Arg)
c.3161C>G (p.Pro1054Arg)
c.3260C>G (p.Pro1087Arg)
c.3236C>G (p.Pro1079Arg)
c.3071C>G (p.Pro1024Arg)
c.3430C>G (p.Arg1144Gly)
c.3406C>G (p.Arg1136Gly)
c.3403C>G (p.Arg1135Gly)
c.3331C>G (p.Arg1111Gly)
c.3316C>G (p.Arg1106Gly)
c.3241C>G (p.Arg1081Gly)
1g.16986316G=CA1156049535ATP13A2c.3448C= (p.Arg1150=)
c.3146C= (p.Pro1049=)
c.3433C= (p.Arg1145=)
n.1494C=
c.866C= (p.Pro289=)
c.3278C= (p.Pro1093=)
c.3275C= (p.Pro1092=)
c.3263C= (p.Pro1088=)
c.3251C= (p.Pro1084=)
c.3218C= (p.Pro1073=)
c.3161C= (p.Pro1054=)
c.3260C= (p.Pro1087=)
c.3236C= (p.Pro1079=)
c.3071C= (p.Pro1024=)
c.3430C= (p.Arg1144=)
c.3406C= (p.Arg1136=)
c.3403C= (p.Arg1135=)
c.3331C= (p.Arg1111=)
c.3316C= (p.Arg1106=)
c.3241C= (p.Arg1081=)
1g.16986316G>TCA338232425ATP13A2c.3448C>A (p.Arg1150=)
c.3146C>A (p.Pro1049Gln)
c.3433C>A (p.Arg1145=)
n.1494C>A
c.866C>A (p.Pro289Gln)
c.3278C>A (p.Pro1093Gln)
c.3275C>A (p.Pro1092Gln)
c.3263C>A (p.Pro1088Gln)
c.3251C>A (p.Pro1084Gln)
c.3218C>A (p.Pro1073Gln)
c.3161C>A (p.Pro1054Gln)
c.3260C>A (p.Pro1087Gln)
c.3236C>A (p.Pro1079Gln)
c.3071C>A (p.Pro1024Gln)
c.3430C>A (p.Arg1144=)
c.3406C>A (p.Arg1136=)
c.3403C>A (p.Arg1135=)
c.3331C>A (p.Arg1111=)
c.3316C>A (p.Arg1106=)
c.3241C>A (p.Arg1081=)
 gnomAD v4
1g.16986317G>ACA338232426ATP13A2c.3447C>T (p.Leu1149=)
c.3145C>T (p.Pro1049Ser)
c.3432C>T (p.Leu1144=)
n.1493C>T
c.865C>T (p.Pro289Ser)
c.3277C>T (p.Pro1093Ser)
c.3274C>T (p.Pro1092Ser)
c.3262C>T (p.Pro1088Ser)
c.3250C>T (p.Pro1084Ser)
c.3217C>T (p.Pro1073Ser)
c.3160C>T (p.Pro1054Ser)
c.3259C>T (p.Pro1087Ser)
c.3235C>T (p.Pro1079Ser)
c.3070C>T (p.Pro1024Ser)
c.3429C>T (p.Leu1143=)
c.3405C>T (p.Leu1135=)
c.3402C>T (p.Leu1134=)
c.3330C>T (p.Leu1110=)
c.3315C>T (p.Leu1105=)
c.3240C>T (p.Leu1080=)
1g.16986317G>CCA18624779ATP13A2c.3447C>G (p.Leu1149=)
c.3145C>G (p.Pro1049Ala)
c.3432C>G (p.Leu1144=)
n.1493C>G
c.865C>G (p.Pro289Ala)
c.3277C>G (p.Pro1093Ala)
c.3274C>G (p.Pro1092Ala)
c.3262C>G (p.Pro1088Ala)
c.3250C>G (p.Pro1084Ala)
c.3217C>G (p.Pro1073Ala)
c.3160C>G (p.Pro1054Ala)
c.3259C>G (p.Pro1087Ala)
c.3235C>G (p.Pro1079Ala)
c.3070C>G (p.Pro1024Ala)
c.3429C>G (p.Leu1143=)
c.3405C>G (p.Leu1135=)
c.3402C>G (p.Leu1134=)
c.3330C>G (p.Leu1110=)
c.3315C>G (p.Leu1105=)
c.3240C>G (p.Leu1080=)
 dbSNP gnomAD v3 gnomAD v4
1g.16986317G=CA1156049541ATP13A2c.3447C= (p.Leu1149=)
c.3145C= (p.Pro1049=)
c.3432C= (p.Leu1144=)
n.1493C=
c.865C= (p.Pro289=)
c.3277C= (p.Pro1093=)
c.3274C= (p.Pro1092=)
c.3262C= (p.Pro1088=)
c.3250C= (p.Pro1084=)
c.3217C= (p.Pro1073=)
c.3160C= (p.Pro1054=)
c.3259C= (p.Pro1087=)
c.3235C= (p.Pro1079=)
c.3070C= (p.Pro1024=)
c.3429C= (p.Leu1143=)
c.3405C= (p.Leu1135=)
c.3402C= (p.Leu1134=)
c.3330C= (p.Leu1110=)
c.3315C= (p.Leu1105=)
c.3240C= (p.Leu1080=)
1g.16986317G>TCA338232427ATP13A2c.3447C>A (p.Leu1149=)
c.3145C>A (p.Pro1049Thr)
c.3432C>A (p.Leu1144=)
n.1493C>A
c.865C>A (p.Pro289Thr)
c.3277C>A (p.Pro1093Thr)
c.3274C>A (p.Pro1092Thr)
c.3262C>A (p.Pro1088Thr)
c.3250C>A (p.Pro1084Thr)
c.3217C>A (p.Pro1073Thr)
c.3160C>A (p.Pro1054Thr)
c.3259C>A (p.Pro1087Thr)
c.3235C>A (p.Pro1079Thr)
c.3070C>A (p.Pro1024Thr)
c.3429C>A (p.Leu1143=)
c.3405C>A (p.Leu1135=)
c.3402C>A (p.Leu1134=)
c.3330C>A (p.Leu1110=)
c.3315C>A (p.Leu1105=)
c.3240C>A (p.Leu1080=)
1g.16986318A>CCA338232430ATP13A2c.3446T>G (p.Leu1149Arg)
c.3144T>G (p.Pro1048=)
c.3431T>G (p.Leu1144Arg)
n.1492T>G
c.864T>G (p.Pro288=)
c.3276T>G (p.Pro1092=)
c.3273T>G (p.Pro1091=)
c.3261T>G (p.Pro1087=)
c.3249T>G (p.Pro1083=)
c.3216T>G (p.Pro1072=)
c.3159T>G (p.Pro1053=)
c.3258T>G (p.Pro1086=)
c.3234T>G (p.Pro1078=)
c.3069T>G (p.Pro1023=)
c.3428T>G (p.Leu1143Arg)
c.3404T>G (p.Leu1135Arg)
c.3401T>G (p.Leu1134Arg)
c.3329T>G (p.Leu1110Arg)
c.3314T>G (p.Leu1105Arg)
c.3239T>G (p.Leu1080Arg)
1g.16986318A>GCA338232429ATP13A2c.3446T>C (p.Leu1149Pro)
c.3144T>C (p.Pro1048=)
c.3431T>C (p.Leu1144Pro)
n.1492T>C
c.864T>C (p.Pro288=)
c.3276T>C (p.Pro1092=)
c.3273T>C (p.Pro1091=)
c.3261T>C (p.Pro1087=)
c.3249T>C (p.Pro1083=)
c.3216T>C (p.Pro1072=)
c.3159T>C (p.Pro1053=)
c.3258T>C (p.Pro1086=)
c.3234T>C (p.Pro1078=)
c.3069T>C (p.Pro1023=)
c.3428T>C (p.Leu1143Pro)
c.3404T>C (p.Leu1135Pro)
c.3401T>C (p.Leu1134Pro)
c.3329T>C (p.Leu1110Pro)
c.3314T>C (p.Leu1105Pro)
c.3239T>C (p.Leu1080Pro)
1g.16986318A>TCA338232428ATP13A2c.3446T>A (p.Leu1149His)
c.3144T>A (p.Pro1048=)
c.3431T>A (p.Leu1144His)
n.1492T>A
c.864T>A (p.Pro288=)
c.3276T>A (p.Pro1092=)
c.3273T>A (p.Pro1091=)
c.3261T>A (p.Pro1087=)
c.3249T>A (p.Pro1083=)
c.3216T>A (p.Pro1072=)
c.3159T>A (p.Pro1053=)
c.3258T>A (p.Pro1086=)
c.3234T>A (p.Pro1078=)
c.3069T>A (p.Pro1023=)
c.3428T>A (p.Leu1143His)
c.3404T>A (p.Leu1135His)
c.3401T>A (p.Leu1134His)
c.3329T>A (p.Leu1110His)
c.3314T>A (p.Leu1105His)
c.3239T>A (p.Leu1080His)
1g.16986319G>ACA18624783ATP13A2c.3445C>T (p.Leu1149Phe)
c.3143C>T (p.Pro1048Leu)
c.3430C>T (p.Leu1144Phe)
n.1491C>T
c.863C>T (p.Pro288Leu)
c.3275C>T (p.Pro1092Leu)
c.3272C>T (p.Pro1091Leu)
c.3260C>T (p.Pro1087Leu)
c.3248C>T (p.Pro1083Leu)
c.3215C>T (p.Pro1072Leu)
c.3158C>T (p.Pro1053Leu)
c.3257C>T (p.Pro1086Leu)
c.3233C>T (p.Pro1078Leu)
c.3068C>T (p.Pro1023Leu)
c.3427C>T (p.Leu1143Phe)
c.3403C>T (p.Leu1135Phe)
c.3400C>T (p.Leu1134Phe)
c.3328C>T (p.Leu1110Phe)
c.3313C>T (p.Leu1105Phe)
c.3238C>T (p.Leu1080Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.16986319G>CCA338232435ATP13A2c.3445C>G (p.Leu1149Val)
c.3143C>G (p.Pro1048Arg)
c.3430C>G (p.Leu1144Val)
n.1491C>G
c.863C>G (p.Pro288Arg)
c.3275C>G (p.Pro1092Arg)
c.3272C>G (p.Pro1091Arg)
c.3260C>G (p.Pro1087Arg)
c.3248C>G (p.Pro1083Arg)
c.3215C>G (p.Pro1072Arg)
c.3158C>G (p.Pro1053Arg)
c.3257C>G (p.Pro1086Arg)
c.3233C>G (p.Pro1078Arg)
c.3068C>G (p.Pro1023Arg)
c.3427C>G (p.Leu1143Val)
c.3403C>G (p.Leu1135Val)
c.3400C>G (p.Leu1134Val)
c.3328C>G (p.Leu1110Val)
c.3313C>G (p.Leu1105Val)
c.3238C>G (p.Leu1080Val)
1g.16986319G=CA1156049545ATP13A2c.3445C= (p.Leu1149=)
c.3143C= (p.Pro1048=)
c.3430C= (p.Leu1144=)
n.1491C=
c.863C= (p.Pro288=)
c.3275C= (p.Pro1092=)
c.3272C= (p.Pro1091=)
c.3260C= (p.Pro1087=)
c.3248C= (p.Pro1083=)
c.3215C= (p.Pro1072=)
c.3158C= (p.Pro1053=)
c.3257C= (p.Pro1086=)
c.3233C= (p.Pro1078=)
c.3068C= (p.Pro1023=)
c.3427C= (p.Leu1143=)
c.3403C= (p.Leu1135=)
c.3400C= (p.Leu1134=)
c.3328C= (p.Leu1110=)
c.3313C= (p.Leu1105=)
c.3238C= (p.Leu1080=)
1g.16986319G>TCA338232437ATP13A2c.3445C>A (p.Leu1149Ile)
c.3143C>A (p.Pro1048His)
c.3430C>A (p.Leu1144Ile)
n.1491C>A
c.863C>A (p.Pro288His)
c.3275C>A (p.Pro1092His)
c.3272C>A (p.Pro1091His)
c.3260C>A (p.Pro1087His)
c.3248C>A (p.Pro1083His)
c.3215C>A (p.Pro1072His)
c.3158C>A (p.Pro1053His)
c.3257C>A (p.Pro1086His)
c.3233C>A (p.Pro1078His)
c.3068C>A (p.Pro1023His)
c.3427C>A (p.Leu1143Ile)
c.3403C>A (p.Leu1135Ile)
c.3400C>A (p.Leu1134Ile)
c.3328C>A (p.Leu1110Ile)
c.3313C>A (p.Leu1105Ile)
c.3238C>A (p.Leu1080Ile)
1g.16986320G>ACA338232439ATP13A2c.3444C>T (p.Arg1148=)
c.3142C>T (p.Pro1048Ser)
c.3429C>T (p.Arg1143=)
n.1490C>T
c.862C>T (p.Pro288Ser)
c.3274C>T (p.Pro1092Ser)
c.3271C>T (p.Pro1091Ser)
c.3259C>T (p.Pro1087Ser)
c.3247C>T (p.Pro1083Ser)
c.3214C>T (p.Pro1072Ser)
c.3157C>T (p.Pro1053Ser)
c.3256C>T (p.Pro1086Ser)
c.3232C>T (p.Pro1078Ser)
c.3067C>T (p.Pro1023Ser)
c.3426C>T (p.Arg1142=)
c.3402C>T (p.Arg1134=)
c.3399C>T (p.Arg1133=)
c.3327C>T (p.Arg1109=)
c.3312C>T (p.Arg1104=)
c.3237C>T (p.Arg1079=)
1g.16986320G>CCA338232440ATP13A2c.3444C>G (p.Arg1148=)
c.3142C>G (p.Pro1048Ala)
c.3429C>G (p.Arg1143=)
n.1490C>G
c.862C>G (p.Pro288Ala)
c.3274C>G (p.Pro1092Ala)
c.3271C>G (p.Pro1091Ala)
c.3259C>G (p.Pro1087Ala)
c.3247C>G (p.Pro1083Ala)
c.3214C>G (p.Pro1072Ala)
c.3157C>G (p.Pro1053Ala)
c.3256C>G (p.Pro1086Ala)
c.3232C>G (p.Pro1078Ala)
c.3067C>G (p.Pro1023Ala)
c.3426C>G (p.Arg1142=)
c.3402C>G (p.Arg1134=)
c.3399C>G (p.Arg1133=)
c.3327C>G (p.Arg1109=)
c.3312C>G (p.Arg1104=)
c.3237C>G (p.Arg1079=)
1g.16986320G>TCA338232446ATP13A2c.3444C>A (p.Arg1148=)
c.3142C>A (p.Pro1048Thr)
c.3429C>A (p.Arg1143=)
n.1490C>A
c.862C>A (p.Pro288Thr)
c.3274C>A (p.Pro1092Thr)
c.3271C>A (p.Pro1091Thr)
c.3259C>A (p.Pro1087Thr)
c.3247C>A (p.Pro1083Thr)
c.3214C>A (p.Pro1072Thr)
c.3157C>A (p.Pro1053Thr)
c.3256C>A (p.Pro1086Thr)
c.3232C>A (p.Pro1078Thr)
c.3067C>A (p.Pro1023Thr)
c.3426C>A (p.Arg1142=)
c.3402C>A (p.Arg1134=)
c.3399C>A (p.Arg1133=)
c.3327C>A (p.Arg1109=)
c.3312C>A (p.Arg1104=)
c.3237C>A (p.Arg1079=)
1g.16986321C>ACA338232447ATP13A2c.3443G>T (p.Arg1148Leu)
c.3141G>T (p.Pro1047=)
c.3428G>T (p.Arg1143Leu)
n.1489G>T
c.861G>T (p.Pro287=)
c.3273G>T (p.Pro1091=)
c.3270G>T (p.Pro1090=)
c.3258G>T (p.Pro1086=)
c.3246G>T (p.Pro1082=)
c.3213G>T (p.Pro1071=)
c.3156G>T (p.Pro1052=)
c.3255G>T (p.Pro1085=)
c.3231G>T (p.Pro1077=)
c.3066G>T (p.Pro1022=)
c.3425G>T (p.Arg1142Leu)
c.3401G>T (p.Arg1134Leu)
c.3398G>T (p.Arg1133Leu)
c.3326G>T (p.Arg1109Leu)
c.3311G>T (p.Arg1104Leu)
c.3236G>T (p.Arg1079Leu)
 gnomAD v4
1g.16986321C=CA1144713712ATP13A2c.3443G= (p.Arg1148=)
c.3141G= (p.Pro1047=)
c.3428G= (p.Arg1143=)
n.1489G=
c.861G= (p.Pro287=)
c.3273G= (p.Pro1091=)
c.3270G= (p.Pro1090=)
c.3258G= (p.Pro1086=)
c.3246G= (p.Pro1082=)
c.3213G= (p.Pro1071=)
c.3156G= (p.Pro1052=)
c.3255G= (p.Pro1085=)
c.3231G= (p.Pro1077=)
c.3066G= (p.Pro1022=)
c.3425G= (p.Arg1142=)
c.3401G= (p.Arg1134=)
c.3398G= (p.Arg1133=)
c.3326G= (p.Arg1109=)
c.3311G= (p.Arg1104=)
c.3236G= (p.Arg1079=)
1g.16986321C>GCA18624808ATP13A2c.3443G>C (p.Arg1148Pro)
c.3141G>C (p.Pro1047=)
c.3428G>C (p.Arg1143Pro)
n.1489G>C
c.861G>C (p.Pro287=)
c.3273G>C (p.Pro1091=)
c.3270G>C (p.Pro1090=)
c.3258G>C (p.Pro1086=)
c.3246G>C (p.Pro1082=)
c.3213G>C (p.Pro1071=)
c.3156G>C (p.Pro1052=)
c.3255G>C (p.Pro1085=)
c.3231G>C (p.Pro1077=)
c.3066G>C (p.Pro1022=)
c.3425G>C (p.Arg1142Pro)
c.3401G>C (p.Arg1134Pro)
c.3398G>C (p.Arg1133Pro)
c.3326G>C (p.Arg1109Pro)
c.3311G>C (p.Arg1104Pro)
c.3236G>C (p.Arg1079Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.16986321C>TCA636481ATP13A2c.3443G>A (p.Arg1148His)
c.3141G>A (p.Pro1047=)
c.3428G>A (p.Arg1143His)
n.1489G>A
c.861G>A (p.Pro287=)
c.3273G>A (p.Pro1091=)
c.3270G>A (p.Pro1090=)
c.3258G>A (p.Pro1086=)
c.3246G>A (p.Pro1082=)
c.3213G>A (p.Pro1071=)
c.3156G>A (p.Pro1052=)
c.3255G>A (p.Pro1085=)
c.3231G>A (p.Pro1077=)
c.3066G>A (p.Pro1022=)
c.3425G>A (p.Arg1142His)
c.3401G>A (p.Arg1134His)
c.3398G>A (p.Arg1133His)
c.3326G>A (p.Arg1109His)
c.3311G>A (p.Arg1104His)
c.3236G>A (p.Arg1079His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986322G>ACA636482ATP13A2c.3442C>T (p.Arg1148Cys)
c.3140C>T (p.Pro1047Leu)
c.3427C>T (p.Arg1143Cys)
n.1488C>T
c.860C>T (p.Pro287Leu)
c.3272C>T (p.Pro1091Leu)
c.3269C>T (p.Pro1090Leu)
c.3257C>T (p.Pro1086Leu)
c.3245C>T (p.Pro1082Leu)
c.3212C>T (p.Pro1071Leu)
c.3155C>T (p.Pro1052Leu)
c.3254C>T (p.Pro1085Leu)
c.3230C>T (p.Pro1077Leu)
c.3065C>T (p.Pro1022Leu)
c.3424C>T (p.Arg1142Cys)
c.3400C>T (p.Arg1134Cys)
c.3397C>T (p.Arg1133Cys)
c.3325C>T (p.Arg1109Cys)
c.3310C>T (p.Arg1104Cys)
c.3235C>T (p.Arg1079Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986322G>CCA338232450ATP13A2c.3442C>G (p.Arg1148Gly)
c.3140C>G (p.Pro1047Arg)
c.3427C>G (p.Arg1143Gly)
n.1488C>G
c.860C>G (p.Pro287Arg)
c.3272C>G (p.Pro1091Arg)
c.3269C>G (p.Pro1090Arg)
c.3257C>G (p.Pro1086Arg)
c.3245C>G (p.Pro1082Arg)
c.3212C>G (p.Pro1071Arg)
c.3155C>G (p.Pro1052Arg)
c.3254C>G (p.Pro1085Arg)
c.3230C>G (p.Pro1077Arg)
c.3065C>G (p.Pro1022Arg)
c.3424C>G (p.Arg1142Gly)
c.3400C>G (p.Arg1134Gly)
c.3397C>G (p.Arg1133Gly)
c.3325C>G (p.Arg1109Gly)
c.3310C>G (p.Arg1104Gly)
c.3235C>G (p.Arg1079Gly)
1g.16986322G=CA1156049555ATP13A2c.3442C= (p.Arg1148=)
c.3140C= (p.Pro1047=)
c.3427C= (p.Arg1143=)
n.1488C=
c.860C= (p.Pro287=)
c.3272C= (p.Pro1091=)
c.3269C= (p.Pro1090=)
c.3257C= (p.Pro1086=)
c.3245C= (p.Pro1082=)
c.3212C= (p.Pro1071=)
c.3155C= (p.Pro1052=)
c.3254C= (p.Pro1085=)
c.3230C= (p.Pro1077=)
c.3065C= (p.Pro1022=)
c.3424C= (p.Arg1142=)
c.3400C= (p.Arg1134=)
c.3397C= (p.Arg1133=)
c.3325C= (p.Arg1109=)
c.3310C= (p.Arg1104=)
c.3235C= (p.Arg1079=)
1g.16986322G>TCA338232452ATP13A2c.3442C>A (p.Arg1148Ser)
c.3140C>A (p.Pro1047Gln)
c.3427C>A (p.Arg1143Ser)
n.1488C>A
c.860C>A (p.Pro287Gln)
c.3272C>A (p.Pro1091Gln)
c.3269C>A (p.Pro1090Gln)
c.3257C>A (p.Pro1086Gln)
c.3245C>A (p.Pro1082Gln)
c.3212C>A (p.Pro1071Gln)
c.3155C>A (p.Pro1052Gln)
c.3254C>A (p.Pro1085Gln)
c.3230C>A (p.Pro1077Gln)
c.3065C>A (p.Pro1022Gln)
c.3424C>A (p.Arg1142Ser)
c.3400C>A (p.Arg1134Ser)
c.3397C>A (p.Arg1133Ser)
c.3325C>A (p.Arg1109Ser)
c.3310C>A (p.Arg1104Ser)
c.3235C>A (p.Arg1079Ser)
1g.16986323G>ACA338232453ATP13A2c.3441C>T (p.Arg1147=)
c.3139C>T (p.Pro1047Ser)
c.3426C>T (p.Arg1142=)
n.1487C>T
c.859C>T (p.Pro287Ser)
c.3271C>T (p.Pro1091Ser)
c.3268C>T (p.Pro1090Ser)
c.3256C>T (p.Pro1086Ser)
c.3244C>T (p.Pro1082Ser)
c.3211C>T (p.Pro1071Ser)
c.3154C>T (p.Pro1052Ser)
c.3253C>T (p.Pro1085Ser)
c.3229C>T (p.Pro1077Ser)
c.3064C>T (p.Pro1022Ser)
c.3423C>T (p.Arg1141=)
c.3399C>T (p.Arg1133=)
c.3396C>T (p.Arg1132=)
c.3324C>T (p.Arg1108=)
c.3309C>T (p.Arg1103=)
c.3234C>T (p.Arg1078=)
1g.16986323G>CCA338232455ATP13A2c.3441C>G (p.Arg1147=)
c.3139C>G (p.Pro1047Ala)
c.3426C>G (p.Arg1142=)
n.1487C>G
c.859C>G (p.Pro287Ala)
c.3271C>G (p.Pro1091Ala)
c.3268C>G (p.Pro1090Ala)
c.3256C>G (p.Pro1086Ala)
c.3244C>G (p.Pro1082Ala)
c.3211C>G (p.Pro1071Ala)
c.3154C>G (p.Pro1052Ala)
c.3253C>G (p.Pro1085Ala)
c.3229C>G (p.Pro1077Ala)
c.3064C>G (p.Pro1022Ala)
c.3423C>G (p.Arg1141=)
c.3399C>G (p.Arg1133=)
c.3396C>G (p.Arg1132=)
c.3324C>G (p.Arg1108=)
c.3309C>G (p.Arg1103=)
c.3234C>G (p.Arg1078=)
1g.16986323G>TCA338232457ATP13A2c.3441C>A (p.Arg1147=)
c.3139C>A (p.Pro1047Thr)
c.3426C>A (p.Arg1142=)
n.1487C>A
c.859C>A (p.Pro287Thr)
c.3271C>A (p.Pro1091Thr)
c.3268C>A (p.Pro1090Thr)
c.3256C>A (p.Pro1086Thr)
c.3244C>A (p.Pro1082Thr)
c.3211C>A (p.Pro1071Thr)
c.3154C>A (p.Pro1052Thr)
c.3253C>A (p.Pro1085Thr)
c.3229C>A (p.Pro1077Thr)
c.3064C>A (p.Pro1022Thr)
c.3423C>A (p.Arg1141=)
c.3399C>A (p.Arg1133=)
c.3396C>A (p.Arg1132=)
c.3324C>A (p.Arg1108=)
c.3309C>A (p.Arg1103=)
c.3234C>A (p.Arg1078=)
1g.16986324C>ACA338232459ATP13A2c.3440G>T (p.Arg1147Leu)
c.3138G>T (p.Ala1046=)
c.3425G>T (p.Arg1142Leu)
n.1486G>T
c.858G>T (p.Ala286=)
c.3270G>T (p.Ala1090=)
c.3267G>T (p.Ala1089=)
c.3255G>T (p.Ala1085=)
c.3243G>T (p.Ala1081=)
c.3210G>T (p.Ala1070=)
c.3153G>T (p.Ala1051=)
c.3252G>T (p.Ala1084=)
c.3228G>T (p.Ala1076=)
c.3063G>T (p.Ala1021=)
c.3422G>T (p.Arg1141Leu)
c.3398G>T (p.Arg1133Leu)
c.3395G>T (p.Arg1132Leu)
c.3323G>T (p.Arg1108Leu)
c.3308G>T (p.Arg1103Leu)
c.3233G>T (p.Arg1078Leu)
1g.16986324C=CA1156049556ATP13A2c.3440G= (p.Arg1147=)
c.3138G= (p.Ala1046=)
c.3425G= (p.Arg1142=)
n.1486G=
c.858G= (p.Ala286=)
c.3270G= (p.Ala1090=)
c.3267G= (p.Ala1089=)
c.3255G= (p.Ala1085=)
c.3243G= (p.Ala1081=)
c.3210G= (p.Ala1070=)
c.3153G= (p.Ala1051=)
c.3252G= (p.Ala1084=)
c.3228G= (p.Ala1076=)
c.3063G= (p.Ala1021=)
c.3422G= (p.Arg1141=)
c.3398G= (p.Arg1133=)
c.3395G= (p.Arg1132=)
c.3323G= (p.Arg1108=)
c.3308G= (p.Arg1103=)
c.3233G= (p.Arg1078=)
1g.16986324C>GCA338232463ATP13A2c.3440G>C (p.Arg1147Pro)
c.3138G>C (p.Ala1046=)
c.3425G>C (p.Arg1142Pro)
n.1486G>C
c.858G>C (p.Ala286=)
c.3270G>C (p.Ala1090=)
c.3267G>C (p.Ala1089=)
c.3255G>C (p.Ala1085=)
c.3243G>C (p.Ala1081=)
c.3210G>C (p.Ala1070=)
c.3153G>C (p.Ala1051=)
c.3252G>C (p.Ala1084=)
c.3228G>C (p.Ala1076=)
c.3063G>C (p.Ala1021=)
c.3422G>C (p.Arg1141Pro)
c.3398G>C (p.Arg1133Pro)
c.3395G>C (p.Arg1132Pro)
c.3323G>C (p.Arg1108Pro)
c.3308G>C (p.Arg1103Pro)
c.3233G>C (p.Arg1078Pro)
1g.16986324C>TCA18624822ATP13A2c.3440G>A (p.Arg1147His)
c.3138G>A (p.Ala1046=)
c.3425G>A (p.Arg1142His)
n.1486G>A
c.858G>A (p.Ala286=)
c.3270G>A (p.Ala1090=)
c.3267G>A (p.Ala1089=)
c.3255G>A (p.Ala1085=)
c.3243G>A (p.Ala1081=)
c.3210G>A (p.Ala1070=)
c.3153G>A (p.Ala1051=)
c.3252G>A (p.Ala1084=)
c.3228G>A (p.Ala1076=)
c.3063G>A (p.Ala1021=)
c.3422G>A (p.Arg1141His)
c.3398G>A (p.Arg1133His)
c.3395G>A (p.Arg1132His)
c.3323G>A (p.Arg1108His)
c.3308G>A (p.Arg1103His)
c.3233G>A (p.Arg1078His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986325G>ACA636483ATP13A2c.3439C>T (p.Arg1147Cys)
c.3137C>T (p.Ala1046Val)
c.3424C>T (p.Arg1142Cys)
n.1485C>T
c.857C>T (p.Ala286Val)
c.3269C>T (p.Ala1090Val)
c.3266C>T (p.Ala1089Val)
c.3254C>T (p.Ala1085Val)
c.3242C>T (p.Ala1081Val)
c.3209C>T (p.Ala1070Val)
c.3152C>T (p.Ala1051Val)
c.3251C>T (p.Ala1084Val)
c.3227C>T (p.Ala1076Val)
c.3062C>T (p.Ala1021Val)
c.3421C>T (p.Arg1141Cys)
c.3397C>T (p.Arg1133Cys)
c.3394C>T (p.Arg1132Cys)
c.3322C>T (p.Arg1108Cys)
c.3307C>T (p.Arg1103Cys)
c.3232C>T (p.Arg1078Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986325G>CCA338232466ATP13A2c.3439C>G (p.Arg1147Gly)
c.3137C>G (p.Ala1046Gly)
c.3424C>G (p.Arg1142Gly)
n.1485C>G
c.857C>G (p.Ala286Gly)
c.3269C>G (p.Ala1090Gly)
c.3266C>G (p.Ala1089Gly)
c.3254C>G (p.Ala1085Gly)
c.3242C>G (p.Ala1081Gly)
c.3209C>G (p.Ala1070Gly)
c.3152C>G (p.Ala1051Gly)
c.3251C>G (p.Ala1084Gly)
c.3227C>G (p.Ala1076Gly)
c.3062C>G (p.Ala1021Gly)
c.3421C>G (p.Arg1141Gly)
c.3397C>G (p.Arg1133Gly)
c.3394C>G (p.Arg1132Gly)
c.3322C>G (p.Arg1108Gly)
c.3307C>G (p.Arg1103Gly)
c.3232C>G (p.Arg1078Gly)
1g.16986325G=CA1143728417ATP13A2c.3439C= (p.Arg1147=)
c.3137C= (p.Ala1046=)
c.3424C= (p.Arg1142=)
n.1485C=
c.857C= (p.Ala286=)
c.3269C= (p.Ala1090=)
c.3266C= (p.Ala1089=)
c.3254C= (p.Ala1085=)
c.3242C= (p.Ala1081=)
c.3209C= (p.Ala1070=)
c.3152C= (p.Ala1051=)
c.3251C= (p.Ala1084=)
c.3227C= (p.Ala1076=)
c.3062C= (p.Ala1021=)
c.3421C= (p.Arg1141=)
c.3397C= (p.Arg1133=)
c.3394C= (p.Arg1132=)
c.3322C= (p.Arg1108=)
c.3307C= (p.Arg1103=)
c.3232C= (p.Arg1078=)
1g.16986325G>TCA338232467ATP13A2c.3439C>A (p.Arg1147Ser)
c.3137C>A (p.Ala1046Glu)
c.3424C>A (p.Arg1142Ser)
n.1485C>A
c.857C>A (p.Ala286Glu)
c.3269C>A (p.Ala1090Glu)
c.3266C>A (p.Ala1089Glu)
c.3254C>A (p.Ala1085Glu)
c.3242C>A (p.Ala1081Glu)
c.3209C>A (p.Ala1070Glu)
c.3152C>A (p.Ala1051Glu)
c.3251C>A (p.Ala1084Glu)
c.3227C>A (p.Ala1076Glu)
c.3062C>A (p.Ala1021Glu)
c.3421C>A (p.Arg1141Ser)
c.3397C>A (p.Arg1133Ser)
c.3394C>A (p.Arg1132Ser)
c.3322C>A (p.Arg1108Ser)
c.3307C>A (p.Arg1103Ser)
c.3232C>A (p.Arg1078Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.16986326C>ACA338232468ATP13A2c.3438G>T (p.Leu1146=)
c.3136G>T (p.Ala1046Ser)
c.3423G>T (p.Leu1141=)
n.1484G>T
c.856G>T (p.Ala286Ser)
c.3268G>T (p.Ala1090Ser)
c.3265G>T (p.Ala1089Ser)
c.3253G>T (p.Ala1085Ser)
c.3241G>T (p.Ala1081Ser)
c.3208G>T (p.Ala1070Ser)
c.3151G>T (p.Ala1051Ser)
c.3250G>T (p.Ala1084Ser)
c.3226G>T (p.Ala1076Ser)
c.3061G>T (p.Ala1021Ser)
c.3420G>T (p.Leu1140=)
c.3396G>T (p.Leu1132=)
c.3393G>T (p.Leu1131=)
c.3321G>T (p.Leu1107=)
c.3306G>T (p.Leu1102=)
c.3231G>T (p.Leu1077=)
 gnomAD v4
1g.16986326C>GCA338232470ATP13A2c.3438G>C (p.Leu1146=)
c.3136G>C (p.Ala1046Pro)
c.3423G>C (p.Leu1141=)
n.1484G>C
c.856G>C (p.Ala286Pro)
c.3268G>C (p.Ala1090Pro)
c.3265G>C (p.Ala1089Pro)
c.3253G>C (p.Ala1085Pro)
c.3241G>C (p.Ala1081Pro)
c.3208G>C (p.Ala1070Pro)
c.3151G>C (p.Ala1051Pro)
c.3250G>C (p.Ala1084Pro)
c.3226G>C (p.Ala1076Pro)
c.3061G>C (p.Ala1021Pro)
c.3420G>C (p.Leu1140=)
c.3396G>C (p.Leu1132=)
c.3393G>C (p.Leu1131=)
c.3321G>C (p.Leu1107=)
c.3306G>C (p.Leu1102=)
c.3231G>C (p.Leu1077=)
1g.16986326C>TCA338232469ATP13A2c.3438G>A (p.Leu1146=)
c.3136G>A (p.Ala1046Thr)
c.3423G>A (p.Leu1141=)
n.1484G>A
c.856G>A (p.Ala286Thr)
c.3268G>A (p.Ala1090Thr)
c.3265G>A (p.Ala1089Thr)
c.3253G>A (p.Ala1085Thr)
c.3241G>A (p.Ala1081Thr)
c.3208G>A (p.Ala1070Thr)
c.3151G>A (p.Ala1051Thr)
c.3250G>A (p.Ala1084Thr)
c.3226G>A (p.Ala1076Thr)
c.3061G>A (p.Ala1021Thr)
c.3420G>A (p.Leu1140=)
c.3396G>A (p.Leu1132=)
c.3393G>A (p.Leu1131=)
c.3321G>A (p.Leu1107=)
c.3306G>A (p.Leu1102=)
c.3231G>A (p.Leu1077=)
1g.16986327A>CCA338232471ATP13A2c.3437T>G (p.Leu1146Arg)
c.3135T>G (p.Pro1045=)
c.3422T>G (p.Leu1141Arg)
n.1483T>G
c.855T>G (p.Pro285=)
c.3267T>G (p.Pro1089=)
c.3264T>G (p.Pro1088=)
c.3252T>G (p.Pro1084=)
c.3240T>G (p.Pro1080=)
c.3207T>G (p.Pro1069=)
c.3150T>G (p.Pro1050=)
c.3249T>G (p.Pro1083=)
c.3225T>G (p.Pro1075=)
c.3060T>G (p.Pro1020=)
c.3419T>G (p.Leu1140Arg)
c.3395T>G (p.Leu1132Arg)
c.3392T>G (p.Leu1131Arg)
c.3320T>G (p.Leu1107Arg)
c.3305T>G (p.Leu1102Arg)
c.3230T>G (p.Leu1077Arg)
1g.16986327A>GCA338232472ATP13A2c.3437T>C (p.Leu1146Pro)
c.3135T>C (p.Pro1045=)
c.3422T>C (p.Leu1141Pro)
n.1483T>C
c.855T>C (p.Pro285=)
c.3267T>C (p.Pro1089=)
c.3264T>C (p.Pro1088=)
c.3252T>C (p.Pro1084=)
c.3240T>C (p.Pro1080=)
c.3207T>C (p.Pro1069=)
c.3150T>C (p.Pro1050=)
c.3249T>C (p.Pro1083=)
c.3225T>C (p.Pro1075=)
c.3060T>C (p.Pro1020=)
c.3419T>C (p.Leu1140Pro)
c.3395T>C (p.Leu1132Pro)
c.3392T>C (p.Leu1131Pro)
c.3320T>C (p.Leu1107Pro)
c.3305T>C (p.Leu1102Pro)
c.3230T>C (p.Leu1077Pro)
 gnomAD v4
1g.16986327A>TCA338232473ATP13A2c.3437T>A (p.Leu1146Gln)
c.3135T>A (p.Pro1045=)
c.3422T>A (p.Leu1141Gln)
n.1483T>A
c.855T>A (p.Pro285=)
c.3267T>A (p.Pro1089=)
c.3264T>A (p.Pro1088=)
c.3252T>A (p.Pro1084=)
c.3240T>A (p.Pro1080=)
c.3207T>A (p.Pro1069=)
c.3150T>A (p.Pro1050=)
c.3249T>A (p.Pro1083=)
c.3225T>A (p.Pro1075=)
c.3060T>A (p.Pro1020=)
c.3419T>A (p.Leu1140Gln)
c.3395T>A (p.Leu1132Gln)
c.3392T>A (p.Leu1131Gln)
c.3320T>A (p.Leu1107Gln)
c.3305T>A (p.Leu1102Gln)
c.3230T>A (p.Leu1077Gln)
1g.16986328G>ACA338232474ATP13A2c.3436C>T (p.Leu1146=)
c.3134C>T (p.Pro1045Leu)
c.3421C>T (p.Leu1141=)
n.1482C>T
c.854C>T (p.Pro285Leu)
c.3266C>T (p.Pro1089Leu)
c.3263C>T (p.Pro1088Leu)
c.3251C>T (p.Pro1084Leu)
c.3239C>T (p.Pro1080Leu)
c.3206C>T (p.Pro1069Leu)
c.3149C>T (p.Pro1050Leu)
c.3248C>T (p.Pro1083Leu)
c.3224C>T (p.Pro1075Leu)
c.3059C>T (p.Pro1020Leu)
c.3418C>T (p.Leu1140=)
c.3394C>T (p.Leu1132=)
c.3391C>T (p.Leu1131=)
c.3319C>T (p.Leu1107=)
c.3304C>T (p.Leu1102=)
c.3229C>T (p.Leu1077=)
1g.16986328G>CCA338232475ATP13A2c.3436C>G (p.Leu1146Val)
c.3134C>G (p.Pro1045Arg)
c.3421C>G (p.Leu1141Val)
n.1482C>G
c.854C>G (p.Pro285Arg)
c.3266C>G (p.Pro1089Arg)
c.3263C>G (p.Pro1088Arg)
c.3251C>G (p.Pro1084Arg)
c.3239C>G (p.Pro1080Arg)
c.3206C>G (p.Pro1069Arg)
c.3149C>G (p.Pro1050Arg)
c.3248C>G (p.Pro1083Arg)
c.3224C>G (p.Pro1075Arg)
c.3059C>G (p.Pro1020Arg)
c.3418C>G (p.Leu1140Val)
c.3394C>G (p.Leu1132Val)
c.3391C>G (p.Leu1131Val)
c.3319C>G (p.Leu1107Val)
c.3304C>G (p.Leu1102Val)
c.3229C>G (p.Leu1077Val)
 gnomAD v4
1g.16986328G>TCA338232476ATP13A2c.3436C>A (p.Leu1146Met)
c.3134C>A (p.Pro1045His)
c.3421C>A (p.Leu1141Met)
n.1482C>A
c.854C>A (p.Pro285His)
c.3266C>A (p.Pro1089His)
c.3263C>A (p.Pro1088His)
c.3251C>A (p.Pro1084His)
c.3239C>A (p.Pro1080His)
c.3206C>A (p.Pro1069His)
c.3149C>A (p.Pro1050His)
c.3248C>A (p.Pro1083His)
c.3224C>A (p.Pro1075His)
c.3059C>A (p.Pro1020His)
c.3418C>A (p.Leu1140Met)
c.3394C>A (p.Leu1132Met)
c.3391C>A (p.Leu1131Met)
c.3319C>A (p.Leu1107Met)
c.3304C>A (p.Leu1102Met)
c.3229C>A (p.Leu1077Met)
 gnomAD v4
1g.16986329G>ACA636484ATP13A2c.3435C>T (p.Cys1145=)
c.3133C>T (p.Pro1045Ser)
c.3420C>T (p.Cys1140=)
n.1481C>T
c.853C>T (p.Pro285Ser)
c.3265C>T (p.Pro1089Ser)
c.3262C>T (p.Pro1088Ser)
c.3250C>T (p.Pro1084Ser)
c.3238C>T (p.Pro1080Ser)
c.3205C>T (p.Pro1069Ser)
c.3148C>T (p.Pro1050Ser)
c.3247C>T (p.Pro1083Ser)
c.3223C>T (p.Pro1075Ser)
c.3058C>T (p.Pro1020Ser)
c.3417C>T (p.Cys1139=)
c.3393C>T (p.Cys1131=)
c.3390C>T (p.Cys1130=)
c.3318C>T (p.Cys1106=)
c.3303C>T (p.Cys1101=)
c.3228C>T (p.Cys1076=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986329G>CCA338232478ATP13A2c.3435C>G (p.Cys1145Trp)
c.3133C>G (p.Pro1045Ala)
c.3420C>G (p.Cys1140Trp)
n.1481C>G
c.853C>G (p.Pro285Ala)
c.3265C>G (p.Pro1089Ala)
c.3262C>G (p.Pro1088Ala)
c.3250C>G (p.Pro1084Ala)
c.3238C>G (p.Pro1080Ala)
c.3205C>G (p.Pro1069Ala)
c.3148C>G (p.Pro1050Ala)
c.3247C>G (p.Pro1083Ala)
c.3223C>G (p.Pro1075Ala)
c.3058C>G (p.Pro1020Ala)
c.3417C>G (p.Cys1139Trp)
c.3393C>G (p.Cys1131Trp)
c.3390C>G (p.Cys1130Trp)
c.3318C>G (p.Cys1106Trp)
c.3303C>G (p.Cys1101Trp)
c.3228C>G (p.Cys1076Trp)
1g.16986329G=CA1156049562ATP13A2c.3435C= (p.Cys1145=)
c.3133C= (p.Pro1045=)
c.3420C= (p.Cys1140=)
n.1481C=
c.853C= (p.Pro285=)
c.3265C= (p.Pro1089=)
c.3262C= (p.Pro1088=)
c.3250C= (p.Pro1084=)
c.3238C= (p.Pro1080=)
c.3205C= (p.Pro1069=)
c.3148C= (p.Pro1050=)
c.3247C= (p.Pro1083=)
c.3223C= (p.Pro1075=)
c.3058C= (p.Pro1020=)
c.3417C= (p.Cys1139=)
c.3393C= (p.Cys1131=)
c.3390C= (p.Cys1130=)
c.3318C= (p.Cys1106=)
c.3303C= (p.Cys1101=)
c.3228C= (p.Cys1076=)
1g.16986329G>TCA338232479ATP13A2c.3435C>A (p.Cys1145Ter)
c.3133C>A (p.Pro1045Thr)
c.3420C>A (p.Cys1140Ter)
n.1481C>A
c.853C>A (p.Pro285Thr)
c.3265C>A (p.Pro1089Thr)
c.3262C>A (p.Pro1088Thr)
c.3250C>A (p.Pro1084Thr)
c.3238C>A (p.Pro1080Thr)
c.3205C>A (p.Pro1069Thr)
c.3148C>A (p.Pro1050Thr)
c.3247C>A (p.Pro1083Thr)
c.3223C>A (p.Pro1075Thr)
c.3058C>A (p.Pro1020Thr)
c.3417C>A (p.Cys1139Ter)
c.3393C>A (p.Cys1131Ter)
c.3390C>A (p.Cys1130Ter)
c.3318C>A (p.Cys1106Ter)
c.3303C>A (p.Cys1101Ter)
c.3228C>A (p.Cys1076Ter)
1g.16986330C>ACA338232481ATP13A2c.3434G>T (p.Cys1145Phe)
c.3132G>T (p.Leu1044=)
c.3419G>T (p.Cys1140Phe)
n.1480G>T
c.852G>T (p.Leu284=)
c.3264G>T (p.Leu1088=)
c.3261G>T (p.Leu1087=)
c.3249G>T (p.Leu1083=)
c.3237G>T (p.Leu1079=)
c.3204G>T (p.Leu1068=)
c.3147G>T (p.Leu1049=)
c.3246G>T (p.Leu1082=)
c.3222G>T (p.Leu1074=)
c.3057G>T (p.Leu1019=)
c.3416G>T (p.Cys1139Phe)
c.3392G>T (p.Cys1131Phe)
c.3389G>T (p.Cys1130Phe)
c.3317G>T (p.Cys1106Phe)
c.3302G>T (p.Cys1101Phe)
c.3227G>T (p.Cys1076Phe)
 dbSNP gnomAD v4
1g.16986330C=CA1156049572ATP13A2c.3434G= (p.Cys1145=)
c.3132G= (p.Leu1044=)
c.3419G= (p.Cys1140=)
n.1480G=
c.852G= (p.Leu284=)
c.3264G= (p.Leu1088=)
c.3261G= (p.Leu1087=)
c.3249G= (p.Leu1083=)
c.3237G= (p.Leu1079=)
c.3204G= (p.Leu1068=)
c.3147G= (p.Leu1049=)
c.3246G= (p.Leu1082=)
c.3222G= (p.Leu1074=)
c.3057G= (p.Leu1019=)
c.3416G= (p.Cys1139=)
c.3392G= (p.Cys1131=)
c.3389G= (p.Cys1130=)
c.3317G= (p.Cys1106=)
c.3302G= (p.Cys1101=)
c.3227G= (p.Cys1076=)
1g.16986330C>GCA338232484ATP13A2c.3434G>C (p.Cys1145Ser)
c.3132G>C (p.Leu1044=)
c.3419G>C (p.Cys1140Ser)
n.1480G>C
c.852G>C (p.Leu284=)
c.3264G>C (p.Leu1088=)
c.3261G>C (p.Leu1087=)
c.3249G>C (p.Leu1083=)
c.3237G>C (p.Leu1079=)
c.3204G>C (p.Leu1068=)
c.3147G>C (p.Leu1049=)
c.3246G>C (p.Leu1082=)
c.3222G>C (p.Leu1074=)
c.3057G>C (p.Leu1019=)
c.3416G>C (p.Cys1139Ser)
c.3392G>C (p.Cys1131Ser)
c.3389G>C (p.Cys1130Ser)
c.3317G>C (p.Cys1106Ser)
c.3302G>C (p.Cys1101Ser)
c.3227G>C (p.Cys1076Ser)
1g.16986330C>TCA636485ATP13A2c.3434G>A (p.Cys1145Tyr)
c.3132G>A (p.Leu1044=)
c.3419G>A (p.Cys1140Tyr)
n.1480G>A
c.852G>A (p.Leu284=)
c.3264G>A (p.Leu1088=)
c.3261G>A (p.Leu1087=)
c.3249G>A (p.Leu1083=)
c.3237G>A (p.Leu1079=)
c.3204G>A (p.Leu1068=)
c.3147G>A (p.Leu1049=)
c.3246G>A (p.Leu1082=)
c.3222G>A (p.Leu1074=)
c.3057G>A (p.Leu1019=)
c.3416G>A (p.Cys1139Tyr)
c.3392G>A (p.Cys1131Tyr)
c.3389G>A (p.Cys1130Tyr)
c.3317G>A (p.Cys1106Tyr)
c.3302G>A (p.Cys1101Tyr)
c.3227G>A (p.Cys1076Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986331A>CCA338232490ATP13A2c.3433T>G (p.Cys1145Gly)
c.3131T>G (p.Leu1044Arg)
c.3418T>G (p.Cys1140Gly)
n.1479T>G
c.851T>G (p.Leu284Arg)
c.3263T>G (p.Leu1088Arg)
c.3260T>G (p.Leu1087Arg)
c.3248T>G (p.Leu1083Arg)
c.3236T>G (p.Leu1079Arg)
c.3203T>G (p.Leu1068Arg)
c.3146T>G (p.Leu1049Arg)
c.3245T>G (p.Leu1082Arg)
c.3221T>G (p.Leu1074Arg)
c.3056T>G (p.Leu1019Arg)
c.3415T>G (p.Cys1139Gly)
c.3391T>G (p.Cys1131Gly)
c.3388T>G (p.Cys1130Gly)
c.3316T>G (p.Cys1106Gly)
c.3301T>G (p.Cys1101Gly)
c.3226T>G (p.Cys1076Gly)
1g.16986331A>GCA338232487ATP13A2c.3433T>C (p.Cys1145Arg)
c.3131T>C (p.Leu1044Pro)
c.3418T>C (p.Cys1140Arg)
n.1479T>C
c.851T>C (p.Leu284Pro)
c.3263T>C (p.Leu1088Pro)
c.3260T>C (p.Leu1087Pro)
c.3248T>C (p.Leu1083Pro)
c.3236T>C (p.Leu1079Pro)
c.3203T>C (p.Leu1068Pro)
c.3146T>C (p.Leu1049Pro)
c.3245T>C (p.Leu1082Pro)
c.3221T>C (p.Leu1074Pro)
c.3056T>C (p.Leu1019Pro)
c.3415T>C (p.Cys1139Arg)
c.3391T>C (p.Cys1131Arg)
c.3388T>C (p.Cys1130Arg)
c.3316T>C (p.Cys1106Arg)
c.3301T>C (p.Cys1101Arg)
c.3226T>C (p.Cys1076Arg)
1g.16986331A>TCA338232489ATP13A2c.3433T>A (p.Cys1145Ser)
c.3131T>A (p.Leu1044Gln)
c.3418T>A (p.Cys1140Ser)
n.1479T>A
c.851T>A (p.Leu284Gln)
c.3263T>A (p.Leu1088Gln)
c.3260T>A (p.Leu1087Gln)
c.3248T>A (p.Leu1083Gln)
c.3236T>A (p.Leu1079Gln)
c.3203T>A (p.Leu1068Gln)
c.3146T>A (p.Leu1049Gln)
c.3245T>A (p.Leu1082Gln)
c.3221T>A (p.Leu1074Gln)
c.3056T>A (p.Leu1019Gln)
c.3415T>A (p.Cys1139Ser)
c.3391T>A (p.Cys1131Ser)
c.3388T>A (p.Cys1130Ser)
c.3316T>A (p.Cys1106Ser)
c.3301T>A (p.Cys1101Ser)
c.3226T>A (p.Cys1076Ser)
1g.16986332G>ACA416093526ATP13A2c.3432C>T (p.Ala1144=)
c.3130C>T (p.Leu1044=)
c.3417C>T (p.Ala1139=)
n.1478C>T
c.850C>T (p.Leu284=)
c.3262C>T (p.Leu1088=)
c.3259C>T (p.Leu1087=)
c.3247C>T (p.Leu1083=)
c.3235C>T (p.Leu1079=)
c.3202C>T (p.Leu1068=)
c.3145C>T (p.Leu1049=)
c.3244C>T (p.Leu1082=)
c.3220C>T (p.Leu1074=)
c.3055C>T (p.Leu1019=)
c.3414C>T (p.Ala1138=)
c.3390C>T (p.Ala1130=)
c.3387C>T (p.Ala1129=)
c.3315C>T (p.Ala1105=)
c.3300C>T (p.Ala1100=)
c.3225C>T (p.Ala1075=)
1g.16986332G>CCA338232492ATP13A2c.3432C>G (p.Ala1144=)
c.3130C>G (p.Leu1044Val)
c.3417C>G (p.Ala1139=)
n.1478C>G
c.850C>G (p.Leu284Val)
c.3262C>G (p.Leu1088Val)
c.3259C>G (p.Leu1087Val)
c.3247C>G (p.Leu1083Val)
c.3235C>G (p.Leu1079Val)
c.3202C>G (p.Leu1068Val)
c.3145C>G (p.Leu1049Val)
c.3244C>G (p.Leu1082Val)
c.3220C>G (p.Leu1074Val)
c.3055C>G (p.Leu1019Val)
c.3414C>G (p.Ala1138=)
c.3390C>G (p.Ala1130=)
c.3387C>G (p.Ala1129=)
c.3315C>G (p.Ala1105=)
c.3300C>G (p.Ala1100=)
c.3225C>G (p.Ala1075=)
1g.16986332G>TCA338232494ATP13A2c.3432C>A (p.Ala1144=)
c.3130C>A (p.Leu1044Met)
c.3417C>A (p.Ala1139=)
n.1478C>A
c.850C>A (p.Leu284Met)
c.3262C>A (p.Leu1088Met)
c.3259C>A (p.Leu1087Met)
c.3247C>A (p.Leu1083Met)
c.3235C>A (p.Leu1079Met)
c.3202C>A (p.Leu1068Met)
c.3145C>A (p.Leu1049Met)
c.3244C>A (p.Leu1082Met)
c.3220C>A (p.Leu1074Met)
c.3055C>A (p.Leu1019Met)
c.3414C>A (p.Ala1138=)
c.3390C>A (p.Ala1130=)
c.3387C>A (p.Ala1129=)
c.3315C>A (p.Ala1105=)
c.3300C>A (p.Ala1100=)
c.3225C>A (p.Ala1075=)
 gnomAD v4
1g.16986333G>ACA338232497ATP13A2c.3431C>T (p.Ala1144Val)
c.3129C>T (p.Arg1043=)
c.3416C>T (p.Ala1139Val)
n.1477C>T
c.849C>T (p.Arg283=)
c.3261C>T (p.Arg1087=)
c.3258C>T (p.Arg1086=)
c.3246C>T (p.Arg1082=)
c.3234C>T (p.Arg1078=)
c.3201C>T (p.Arg1067=)
c.3144C>T (p.Arg1048=)
c.3243C>T (p.Arg1081=)
c.3219C>T (p.Arg1073=)
c.3054C>T (p.Arg1018=)
c.3413C>T (p.Ala1138Val)
c.3389C>T (p.Ala1130Val)
c.3386C>T (p.Ala1129Val)
c.3314C>T (p.Ala1105Val)
c.3299C>T (p.Ala1100Val)
c.3224C>T (p.Ala1075Val)
 gnomAD v4
1g.16986333G>CCA338232499ATP13A2c.3431C>G (p.Ala1144Gly)
c.3129C>G (p.Arg1043=)
c.3416C>G (p.Ala1139Gly)
n.1477C>G
c.849C>G (p.Arg283=)
c.3261C>G (p.Arg1087=)
c.3258C>G (p.Arg1086=)
c.3246C>G (p.Arg1082=)
c.3234C>G (p.Arg1078=)
c.3201C>G (p.Arg1067=)
c.3144C>G (p.Arg1048=)
c.3243C>G (p.Arg1081=)
c.3219C>G (p.Arg1073=)
c.3054C>G (p.Arg1018=)
c.3413C>G (p.Ala1138Gly)
c.3389C>G (p.Ala1130Gly)
c.3386C>G (p.Ala1129Gly)
c.3314C>G (p.Ala1105Gly)
c.3299C>G (p.Ala1100Gly)
c.3224C>G (p.Ala1075Gly)
1g.16986333G>TCA338232500ATP13A2c.3431C>A (p.Ala1144Asp)
c.3129C>A (p.Arg1043=)
c.3416C>A (p.Ala1139Asp)
n.1477C>A
c.849C>A (p.Arg283=)
c.3261C>A (p.Arg1087=)
c.3258C>A (p.Arg1086=)
c.3246C>A (p.Arg1082=)
c.3234C>A (p.Arg1078=)
c.3201C>A (p.Arg1067=)
c.3144C>A (p.Arg1048=)
c.3243C>A (p.Arg1081=)
c.3219C>A (p.Arg1073=)
c.3054C>A (p.Arg1018=)
c.3413C>A (p.Ala1138Asp)
c.3389C>A (p.Ala1130Asp)
c.3386C>A (p.Ala1129Asp)
c.3314C>A (p.Ala1105Asp)
c.3299C>A (p.Ala1100Asp)
c.3224C>A (p.Ala1075Asp)
1g.16986334C>ACA338232502ATP13A2c.3430G>T (p.Ala1144Ser)
c.3128G>T (p.Arg1043Leu)
c.3415G>T (p.Ala1139Ser)
n.1476G>T
c.848G>T (p.Arg283Leu)
c.3260G>T (p.Arg1087Leu)
c.3257G>T (p.Arg1086Leu)
c.3245G>T (p.Arg1082Leu)
c.3233G>T (p.Arg1078Leu)
c.3200G>T (p.Arg1067Leu)
c.3143G>T (p.Arg1048Leu)
c.3242G>T (p.Arg1081Leu)
c.3218G>T (p.Arg1073Leu)
c.3053G>T (p.Arg1018Leu)
c.3412G>T (p.Ala1138Ser)
c.3388G>T (p.Ala1130Ser)
c.3385G>T (p.Ala1129Ser)
c.3313G>T (p.Ala1105Ser)
c.3298G>T (p.Ala1100Ser)
c.3223G>T (p.Ala1075Ser)
1g.16986334C=CA1142410591ATP13A2c.3430G= (p.Ala1144=)
c.3128G= (p.Arg1043=)
c.3415G= (p.Ala1139=)
n.1476G=
c.848G= (p.Arg283=)
c.3260G= (p.Arg1087=)
c.3257G= (p.Arg1086=)
c.3245G= (p.Arg1082=)
c.3233G= (p.Arg1078=)
c.3200G= (p.Arg1067=)
c.3143G= (p.Arg1048=)
c.3242G= (p.Arg1081=)
c.3218G= (p.Arg1073=)
c.3053G= (p.Arg1018=)
c.3412G= (p.Ala1138=)
c.3388G= (p.Ala1130=)
c.3385G= (p.Ala1129=)
c.3313G= (p.Ala1105=)
c.3298G= (p.Ala1100=)
c.3223G= (p.Ala1075=)
1g.16986334C>GCA338232504ATP13A2c.3430G>C (p.Ala1144Pro)
c.3128G>C (p.Arg1043Pro)
c.3415G>C (p.Ala1139Pro)
n.1476G>C
c.848G>C (p.Arg283Pro)
c.3260G>C (p.Arg1087Pro)
c.3257G>C (p.Arg1086Pro)
c.3245G>C (p.Arg1082Pro)
c.3233G>C (p.Arg1078Pro)
c.3200G>C (p.Arg1067Pro)
c.3143G>C (p.Arg1048Pro)
c.3242G>C (p.Arg1081Pro)
c.3218G>C (p.Arg1073Pro)
c.3053G>C (p.Arg1018Pro)
c.3412G>C (p.Ala1138Pro)
c.3388G>C (p.Ala1130Pro)
c.3385G>C (p.Ala1129Pro)
c.3313G>C (p.Ala1105Pro)
c.3298G>C (p.Ala1100Pro)
c.3223G>C (p.Ala1075Pro)
 dbSNP
1g.16986334C>TCA151961ATP13A2c.3430G>A (p.Ala1144Thr)
c.3128G>A (p.Arg1043His)
c.3415G>A (p.Ala1139Thr)
n.1476G>A
c.848G>A (p.Arg283His)
c.3260G>A (p.Arg1087His)
c.3257G>A (p.Arg1086His)
c.3245G>A (p.Arg1082His)
c.3233G>A (p.Arg1078His)
c.3200G>A (p.Arg1067His)
c.3143G>A (p.Arg1048His)
c.3242G>A (p.Arg1081His)
c.3218G>A (p.Arg1073His)
c.3053G>A (p.Arg1018His)
c.3412G>A (p.Ala1138Thr)
c.3388G>A (p.Ala1130Thr)
c.3385G>A (p.Ala1129Thr)
c.3313G>A (p.Ala1105Thr)
c.3298G>A (p.Ala1100Thr)
c.3223G>A (p.Ala1075Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986335G>ACA636486ATP13A2c.3429C>T (p.Pro1143=)
c.3127C>T (p.Arg1043Cys)
c.3414C>T (p.Pro1138=)
n.1475C>T
c.847C>T (p.Arg283Cys)
c.3259C>T (p.Arg1087Cys)
c.3256C>T (p.Arg1086Cys)
c.3244C>T (p.Arg1082Cys)
c.3232C>T (p.Arg1078Cys)
c.3199C>T (p.Arg1067Cys)
c.3142C>T (p.Arg1048Cys)
c.3241C>T (p.Arg1081Cys)
c.3217C>T (p.Arg1073Cys)
c.3052C>T (p.Arg1018Cys)
c.3411C>T (p.Pro1137=)
c.3387C>T (p.Pro1129=)
c.3384C>T (p.Pro1128=)
c.3312C>T (p.Pro1104=)
c.3297C>T (p.Pro1099=)
c.3222C>T (p.Pro1074=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986335G>CCA338232506ATP13A2c.3429C>G (p.Pro1143=)
c.3127C>G (p.Arg1043Gly)
c.3414C>G (p.Pro1138=)
n.1475C>G
c.847C>G (p.Arg283Gly)
c.3259C>G (p.Arg1087Gly)
c.3256C>G (p.Arg1086Gly)
c.3244C>G (p.Arg1082Gly)
c.3232C>G (p.Arg1078Gly)
c.3199C>G (p.Arg1067Gly)
c.3142C>G (p.Arg1048Gly)
c.3241C>G (p.Arg1081Gly)
c.3217C>G (p.Arg1073Gly)
c.3052C>G (p.Arg1018Gly)
c.3411C>G (p.Pro1137=)
c.3387C>G (p.Pro1129=)
c.3384C>G (p.Pro1128=)
c.3312C>G (p.Pro1104=)
c.3297C>G (p.Pro1099=)
c.3222C>G (p.Pro1074=)
1g.16986335G=CA1144209585ATP13A2c.3429C= (p.Pro1143=)
c.3127C= (p.Arg1043=)
c.3414C= (p.Pro1138=)
n.1475C=
c.847C= (p.Arg283=)
c.3259C= (p.Arg1087=)
c.3256C= (p.Arg1086=)
c.3244C= (p.Arg1082=)
c.3232C= (p.Arg1078=)
c.3199C= (p.Arg1067=)
c.3142C= (p.Arg1048=)
c.3241C= (p.Arg1081=)
c.3217C= (p.Arg1073=)
c.3052C= (p.Arg1018=)
c.3411C= (p.Pro1137=)
c.3387C= (p.Pro1129=)
c.3384C= (p.Pro1128=)
c.3312C= (p.Pro1104=)
c.3297C= (p.Pro1099=)
c.3222C= (p.Pro1074=)
1g.16986335G>TCA338232507ATP13A2c.3429C>A (p.Pro1143=)
c.3127C>A (p.Arg1043Ser)
c.3414C>A (p.Pro1138=)
n.1475C>A
c.847C>A (p.Arg283Ser)
c.3259C>A (p.Arg1087Ser)
c.3256C>A (p.Arg1086Ser)
c.3244C>A (p.Arg1082Ser)
c.3232C>A (p.Arg1078Ser)
c.3199C>A (p.Arg1067Ser)
c.3142C>A (p.Arg1048Ser)
c.3241C>A (p.Arg1081Ser)
c.3217C>A (p.Arg1073Ser)
c.3052C>A (p.Arg1018Ser)
c.3411C>A (p.Pro1137=)
c.3387C>A (p.Pro1129=)
c.3384C>A (p.Pro1128=)
c.3312C>A (p.Pro1104=)
c.3297C>A (p.Pro1099=)
c.3222C>A (p.Pro1074=)
 gnomAD v4
1g.16986336G>ACA338232510ATP13A2c.3428C>T (p.Pro1143Leu)
c.3126C>T (p.Pro1042=)
c.3413C>T (p.Pro1138Leu)
n.1474C>T
c.846C>T (p.Pro282=)
c.3258C>T (p.Pro1086=)
c.3255C>T (p.Pro1085=)
c.3243C>T (p.Pro1081=)
c.3231C>T (p.Pro1077=)
c.3198C>T (p.Pro1066=)
c.3141C>T (p.Pro1047=)
c.3240C>T (p.Pro1080=)
c.3216C>T (p.Pro1072=)
c.3051C>T (p.Pro1017=)
c.3410C>T (p.Pro1137Leu)
c.3386C>T (p.Pro1129Leu)
c.3383C>T (p.Pro1128Leu)
c.3311C>T (p.Pro1104Leu)
c.3296C>T (p.Pro1099Leu)
c.3221C>T (p.Pro1074Leu)
1g.16986336G>CCA338232512ATP13A2c.3428C>G (p.Pro1143Arg)
c.3126C>G (p.Pro1042=)
c.3413C>G (p.Pro1138Arg)
n.1474C>G
c.846C>G (p.Pro282=)
c.3258C>G (p.Pro1086=)
c.3255C>G (p.Pro1085=)
c.3243C>G (p.Pro1081=)
c.3231C>G (p.Pro1077=)
c.3198C>G (p.Pro1066=)
c.3141C>G (p.Pro1047=)
c.3240C>G (p.Pro1080=)
c.3216C>G (p.Pro1072=)
c.3051C>G (p.Pro1017=)
c.3410C>G (p.Pro1137Arg)
c.3386C>G (p.Pro1129Arg)
c.3383C>G (p.Pro1128Arg)
c.3311C>G (p.Pro1104Arg)
c.3296C>G (p.Pro1099Arg)
c.3221C>G (p.Pro1074Arg)
1g.16986336G>TCA338232511ATP13A2c.3428C>A (p.Pro1143His)
c.3126C>A (p.Pro1042=)
c.3413C>A (p.Pro1138His)
n.1474C>A
c.846C>A (p.Pro282=)
c.3258C>A (p.Pro1086=)
c.3255C>A (p.Pro1085=)
c.3243C>A (p.Pro1081=)
c.3231C>A (p.Pro1077=)
c.3198C>A (p.Pro1066=)
c.3141C>A (p.Pro1047=)
c.3240C>A (p.Pro1080=)
c.3216C>A (p.Pro1072=)
c.3051C>A (p.Pro1017=)
c.3410C>A (p.Pro1137His)
c.3386C>A (p.Pro1129His)
c.3383C>A (p.Pro1128His)
c.3311C>A (p.Pro1104His)
c.3296C>A (p.Pro1099His)
c.3221C>A (p.Pro1074His)
 ClinVar gnomAD v4
1g.16986337G>ACA338232514ATP13A2c.3427C>T (p.Pro1143Ser)
c.3125C>T (p.Pro1042Leu)
c.3412C>T (p.Pro1138Ser)
n.1473C>T
c.845C>T (p.Pro282Leu)
c.3257C>T (p.Pro1086Leu)
c.3254C>T (p.Pro1085Leu)
c.3242C>T (p.Pro1081Leu)
c.3230C>T (p.Pro1077Leu)
c.3197C>T (p.Pro1066Leu)
c.3140C>T (p.Pro1047Leu)
c.3239C>T (p.Pro1080Leu)
c.3215C>T (p.Pro1072Leu)
c.3050C>T (p.Pro1017Leu)
c.3409C>T (p.Pro1137Ser)
c.3385C>T (p.Pro1129Ser)
c.3382C>T (p.Pro1128Ser)
c.3310C>T (p.Pro1104Ser)
c.3295C>T (p.Pro1099Ser)
c.3220C>T (p.Pro1074Ser)
1g.16986337G>CCA338232517ATP13A2c.3427C>G (p.Pro1143Ala)
c.3125C>G (p.Pro1042Arg)
c.3412C>G (p.Pro1138Ala)
n.1473C>G
c.845C>G (p.Pro282Arg)
c.3257C>G (p.Pro1086Arg)
c.3254C>G (p.Pro1085Arg)
c.3242C>G (p.Pro1081Arg)
c.3230C>G (p.Pro1077Arg)
c.3197C>G (p.Pro1066Arg)
c.3140C>G (p.Pro1047Arg)
c.3239C>G (p.Pro1080Arg)
c.3215C>G (p.Pro1072Arg)
c.3050C>G (p.Pro1017Arg)
c.3409C>G (p.Pro1137Ala)
c.3385C>G (p.Pro1129Ala)
c.3382C>G (p.Pro1128Ala)
c.3310C>G (p.Pro1104Ala)
c.3295C>G (p.Pro1099Ala)
c.3220C>G (p.Pro1074Ala)
1g.16986337G>TCA338232516ATP13A2c.3427C>A (p.Pro1143Thr)
c.3125C>A (p.Pro1042His)
c.3412C>A (p.Pro1138Thr)
n.1473C>A
c.845C>A (p.Pro282His)
c.3257C>A (p.Pro1086His)
c.3254C>A (p.Pro1085His)
c.3242C>A (p.Pro1081His)
c.3230C>A (p.Pro1077His)
c.3197C>A (p.Pro1066His)
c.3140C>A (p.Pro1047His)
c.3239C>A (p.Pro1080His)
c.3215C>A (p.Pro1072His)
c.3050C>A (p.Pro1017His)
c.3409C>A (p.Pro1137Thr)
c.3385C>A (p.Pro1129Thr)
c.3382C>A (p.Pro1128Thr)
c.3310C>A (p.Pro1104Thr)
c.3295C>A (p.Pro1099Thr)
c.3220C>A (p.Pro1074Thr)
 gnomAD v4
1g.16986338G>ACA338232518ATP13A2c.3426C>T (p.Leu1142=)
c.3124C>T (p.Pro1042Ser)
c.3411C>T (p.Leu1137=)
n.1472C>T
c.844C>T (p.Pro282Ser)
c.3256C>T (p.Pro1086Ser)
c.3253C>T (p.Pro1085Ser)
c.3241C>T (p.Pro1081Ser)
c.3229C>T (p.Pro1077Ser)
c.3196C>T (p.Pro1066Ser)
c.3139C>T (p.Pro1047Ser)
c.3238C>T (p.Pro1080Ser)
c.3214C>T (p.Pro1072Ser)
c.3049C>T (p.Pro1017Ser)
c.3408C>T (p.Leu1136=)
c.3384C>T (p.Leu1128=)
c.3381C>T (p.Leu1127=)
c.3309C>T (p.Leu1103=)
c.3294C>T (p.Leu1098=)
c.3219C>T (p.Leu1073=)
 dbSNP gnomAD v4 COSMIC COSMIC
1g.16986338G>CCA18624837ATP13A2c.3426C>G (p.Leu1142=)
c.3124C>G (p.Pro1042Ala)
c.3411C>G (p.Leu1137=)
n.1472C>G
c.844C>G (p.Pro282Ala)
c.3256C>G (p.Pro1086Ala)
c.3253C>G (p.Pro1085Ala)
c.3241C>G (p.Pro1081Ala)
c.3229C>G (p.Pro1077Ala)
c.3196C>G (p.Pro1066Ala)
c.3139C>G (p.Pro1047Ala)
c.3238C>G (p.Pro1080Ala)
c.3214C>G (p.Pro1072Ala)
c.3049C>G (p.Pro1017Ala)
c.3408C>G (p.Leu1136=)
c.3384C>G (p.Leu1128=)
c.3381C>G (p.Leu1127=)
c.3309C>G (p.Leu1103=)
c.3294C>G (p.Leu1098=)
c.3219C>G (p.Leu1073=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986338G=CA1156049587ATP13A2c.3426C= (p.Leu1142=)
c.3124C= (p.Pro1042=)
c.3411C= (p.Leu1137=)
n.1472C=
c.844C= (p.Pro282=)
c.3256C= (p.Pro1086=)
c.3253C= (p.Pro1085=)
c.3241C= (p.Pro1081=)
c.3229C= (p.Pro1077=)
c.3196C= (p.Pro1066=)
c.3139C= (p.Pro1047=)
c.3238C= (p.Pro1080=)
c.3214C= (p.Pro1072=)
c.3049C= (p.Pro1017=)
c.3408C= (p.Leu1136=)
c.3384C= (p.Leu1128=)
c.3381C= (p.Leu1127=)
c.3309C= (p.Leu1103=)
c.3294C= (p.Leu1098=)
c.3219C= (p.Leu1073=)
1g.16986338G>TCA338232519ATP13A2c.3426C>A (p.Leu1142=)
c.3124C>A (p.Pro1042Thr)
c.3411C>A (p.Leu1137=)
n.1472C>A
c.844C>A (p.Pro282Thr)
c.3256C>A (p.Pro1086Thr)
c.3253C>A (p.Pro1085Thr)
c.3241C>A (p.Pro1081Thr)
c.3229C>A (p.Pro1077Thr)
c.3196C>A (p.Pro1066Thr)
c.3139C>A (p.Pro1047Thr)
c.3238C>A (p.Pro1080Thr)
c.3214C>A (p.Pro1072Thr)
c.3049C>A (p.Pro1017Thr)
c.3408C>A (p.Leu1136=)
c.3384C>A (p.Leu1128=)
c.3381C>A (p.Leu1127=)
c.3309C>A (p.Leu1103=)
c.3294C>A (p.Leu1098=)
c.3219C>A (p.Leu1073=)
 ClinVar
1g.16986339A=CA1156049597ATP13A2c.3425T= (p.Leu1142=)
c.3123T= (p.Pro1041=)
c.3410T= (p.Leu1137=)
n.1471T=
c.843T= (p.Pro281=)
c.3255T= (p.Pro1085=)
c.3252T= (p.Pro1084=)
c.3240T= (p.Pro1080=)
c.3228T= (p.Pro1076=)
c.3195T= (p.Pro1065=)
c.3138T= (p.Pro1046=)
c.3237T= (p.Pro1079=)
c.3213T= (p.Pro1071=)
c.3048T= (p.Pro1016=)
c.3407T= (p.Leu1136=)
c.3383T= (p.Leu1128=)
c.3380T= (p.Leu1127=)
c.3308T= (p.Leu1103=)
c.3293T= (p.Leu1098=)
c.3218T= (p.Leu1073=)
1g.16986339A>CCA338232522ATP13A2c.3425T>G (p.Leu1142Arg)
c.3123T>G (p.Pro1041=)
c.3410T>G (p.Leu1137Arg)
n.1471T>G
c.843T>G (p.Pro281=)
c.3255T>G (p.Pro1085=)
c.3252T>G (p.Pro1084=)
c.3240T>G (p.Pro1080=)
c.3228T>G (p.Pro1076=)
c.3195T>G (p.Pro1065=)
c.3138T>G (p.Pro1046=)
c.3237T>G (p.Pro1079=)
c.3213T>G (p.Pro1071=)
c.3048T>G (p.Pro1016=)
c.3407T>G (p.Leu1136Arg)
c.3383T>G (p.Leu1128Arg)
c.3380T>G (p.Leu1127Arg)
c.3308T>G (p.Leu1103Arg)
c.3293T>G (p.Leu1098Arg)
c.3218T>G (p.Leu1073Arg)
1g.16986339A>GCA18624861ATP13A2c.3425T>C (p.Leu1142Pro)
c.3123T>C (p.Pro1041=)
c.3410T>C (p.Leu1137Pro)
n.1471T>C
c.843T>C (p.Pro281=)
c.3255T>C (p.Pro1085=)
c.3252T>C (p.Pro1084=)
c.3240T>C (p.Pro1080=)
c.3228T>C (p.Pro1076=)
c.3195T>C (p.Pro1065=)
c.3138T>C (p.Pro1046=)
c.3237T>C (p.Pro1079=)
c.3213T>C (p.Pro1071=)
c.3048T>C (p.Pro1016=)
c.3407T>C (p.Leu1136Pro)
c.3383T>C (p.Leu1128Pro)
c.3380T>C (p.Leu1127Pro)
c.3308T>C (p.Leu1103Pro)
c.3293T>C (p.Leu1098Pro)
c.3218T>C (p.Leu1073Pro)
 dbSNP
1g.16986339A>TCA338232524ATP13A2c.3425T>A (p.Leu1142His)
c.3123T>A (p.Pro1041=)
c.3410T>A (p.Leu1137His)
n.1471T>A
c.843T>A (p.Pro281=)
c.3255T>A (p.Pro1085=)
c.3252T>A (p.Pro1084=)
c.3240T>A (p.Pro1080=)
c.3228T>A (p.Pro1076=)
c.3195T>A (p.Pro1065=)
c.3138T>A (p.Pro1046=)
c.3237T>A (p.Pro1079=)
c.3213T>A (p.Pro1071=)
c.3048T>A (p.Pro1016=)
c.3407T>A (p.Leu1136His)
c.3383T>A (p.Leu1128His)
c.3380T>A (p.Leu1127His)
c.3308T>A (p.Leu1103His)
c.3293T>A (p.Leu1098His)
c.3218T>A (p.Leu1073His)
1g.16986340G>ACA338232526ATP13A2c.3424C>T (p.Leu1142Phe)
c.3122C>T (p.Pro1041Leu)
c.3409C>T (p.Leu1137Phe)
n.1470C>T
c.842C>T (p.Pro281Leu)
c.3254C>T (p.Pro1085Leu)
c.3251C>T (p.Pro1084Leu)
c.3239C>T (p.Pro1080Leu)
c.3227C>T (p.Pro1076Leu)
c.3194C>T (p.Pro1065Leu)
c.3137C>T (p.Pro1046Leu)
c.3236C>T (p.Pro1079Leu)
c.3212C>T (p.Pro1071Leu)
c.3047C>T (p.Pro1016Leu)
c.3406C>T (p.Leu1136Phe)
c.3382C>T (p.Leu1128Phe)
c.3379C>T (p.Leu1127Phe)
c.3307C>T (p.Leu1103Phe)
c.3292C>T (p.Leu1098Phe)
c.3217C>T (p.Leu1073Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.16986340G>CCA338232527ATP13A2c.3424C>G (p.Leu1142Val)
c.3122C>G (p.Pro1041Arg)
c.3409C>G (p.Leu1137Val)
n.1470C>G
c.842C>G (p.Pro281Arg)
c.3254C>G (p.Pro1085Arg)
c.3251C>G (p.Pro1084Arg)
c.3239C>G (p.Pro1080Arg)
c.3227C>G (p.Pro1076Arg)
c.3194C>G (p.Pro1065Arg)
c.3137C>G (p.Pro1046Arg)
c.3236C>G (p.Pro1079Arg)
c.3212C>G (p.Pro1071Arg)
c.3047C>G (p.Pro1016Arg)
c.3406C>G (p.Leu1136Val)
c.3382C>G (p.Leu1128Val)
c.3379C>G (p.Leu1127Val)
c.3307C>G (p.Leu1103Val)
c.3292C>G (p.Leu1098Val)
c.3217C>G (p.Leu1073Val)
1g.16986340G=CA1156049600ATP13A2c.3424C= (p.Leu1142=)
c.3122C= (p.Pro1041=)
c.3409C= (p.Leu1137=)
n.1470C=
c.842C= (p.Pro281=)
c.3254C= (p.Pro1085=)
c.3251C= (p.Pro1084=)
c.3239C= (p.Pro1080=)
c.3227C= (p.Pro1076=)
c.3194C= (p.Pro1065=)
c.3137C= (p.Pro1046=)
c.3236C= (p.Pro1079=)
c.3212C= (p.Pro1071=)
c.3047C= (p.Pro1016=)
c.3406C= (p.Leu1136=)
c.3382C= (p.Leu1128=)
c.3379C= (p.Leu1127=)
c.3307C= (p.Leu1103=)
c.3292C= (p.Leu1098=)
c.3217C= (p.Leu1073=)
1g.16986340G>TCA338232529ATP13A2c.3424C>A (p.Leu1142Ile)
c.3122C>A (p.Pro1041His)
c.3409C>A (p.Leu1137Ile)
n.1470C>A
c.842C>A (p.Pro281His)
c.3254C>A (p.Pro1085His)
c.3251C>A (p.Pro1084His)
c.3239C>A (p.Pro1080His)
c.3227C>A (p.Pro1076His)
c.3194C>A (p.Pro1065His)
c.3137C>A (p.Pro1046His)
c.3236C>A (p.Pro1079His)
c.3212C>A (p.Pro1071His)
c.3047C>A (p.Pro1016His)
c.3406C>A (p.Leu1136Ile)
c.3382C>A (p.Leu1128Ile)
c.3379C>A (p.Leu1127Ile)
c.3307C>A (p.Leu1103Ile)
c.3292C>A (p.Leu1098Ile)
c.3217C>A (p.Leu1073Ile)
1g.16986341G>ACA18624868ATP13A2c.3423C>T (p.Cys1141=)
c.3121C>T (p.Pro1041Ser)
c.3408C>T (p.Cys1136=)
n.1469C>T
c.841C>T (p.Pro281Ser)
c.3253C>T (p.Pro1085Ser)
c.3250C>T (p.Pro1084Ser)
c.3238C>T (p.Pro1080Ser)
c.3226C>T (p.Pro1076Ser)
c.3193C>T (p.Pro1065Ser)
c.3136C>T (p.Pro1046Ser)
c.3235C>T (p.Pro1079Ser)
c.3211C>T (p.Pro1071Ser)
c.3046C>T (p.Pro1016Ser)
c.3405C>T (p.Cys1135=)
c.3381C>T (p.Cys1127=)
c.3378C>T (p.Cys1126=)
c.3306C>T (p.Cys1102=)
c.3291C>T (p.Cys1097=)
c.3216C>T (p.Cys1072=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.16986341G>CCA338232531ATP13A2c.3423C>G (p.Cys1141Trp)
c.3121C>G (p.Pro1041Ala)
c.3408C>G (p.Cys1136Trp)
n.1469C>G
c.841C>G (p.Pro281Ala)
c.3253C>G (p.Pro1085Ala)
c.3250C>G (p.Pro1084Ala)
c.3238C>G (p.Pro1080Ala)
c.3226C>G (p.Pro1076Ala)
c.3193C>G (p.Pro1065Ala)
c.3136C>G (p.Pro1046Ala)
c.3235C>G (p.Pro1079Ala)
c.3211C>G (p.Pro1071Ala)
c.3046C>G (p.Pro1016Ala)
c.3405C>G (p.Cys1135Trp)
c.3381C>G (p.Cys1127Trp)
c.3378C>G (p.Cys1126Trp)
c.3306C>G (p.Cys1102Trp)
c.3291C>G (p.Cys1097Trp)
c.3216C>G (p.Cys1072Trp)
1g.16986341G=CA1156049604ATP13A2c.3423C= (p.Cys1141=)
c.3121C= (p.Pro1041=)
c.3408C= (p.Cys1136=)
n.1469C=
c.841C= (p.Pro281=)
c.3253C= (p.Pro1085=)
c.3250C= (p.Pro1084=)
c.3238C= (p.Pro1080=)
c.3226C= (p.Pro1076=)
c.3193C= (p.Pro1065=)
c.3136C= (p.Pro1046=)
c.3235C= (p.Pro1079=)
c.3211C= (p.Pro1071=)
c.3046C= (p.Pro1016=)
c.3405C= (p.Cys1135=)
c.3381C= (p.Cys1127=)
c.3378C= (p.Cys1126=)
c.3306C= (p.Cys1102=)
c.3291C= (p.Cys1097=)
c.3216C= (p.Cys1072=)
1g.16986341G>TCA338232533ATP13A2c.3423C>A (p.Cys1141Ter)
c.3121C>A (p.Pro1041Thr)
c.3408C>A (p.Cys1136Ter)
n.1469C>A
c.841C>A (p.Pro281Thr)
c.3253C>A (p.Pro1085Thr)
c.3250C>A (p.Pro1084Thr)
c.3238C>A (p.Pro1080Thr)
c.3226C>A (p.Pro1076Thr)
c.3193C>A (p.Pro1065Thr)
c.3136C>A (p.Pro1046Thr)
c.3235C>A (p.Pro1079Thr)
c.3211C>A (p.Pro1071Thr)
c.3046C>A (p.Pro1016Thr)
c.3405C>A (p.Cys1135Ter)
c.3381C>A (p.Cys1127Ter)
c.3378C>A (p.Cys1126Ter)
c.3306C>A (p.Cys1102Ter)
c.3291C>A (p.Cys1097Ter)
c.3216C>A (p.Cys1072Ter)
 dbSNP
1g.16986342C>ACA338232535ATP13A2c.3422G>T (p.Cys1141Phe)
c.3120G>T (p.Val1040=)
c.3407G>T (p.Cys1136Phe)
n.1468G>T
c.840G>T (p.Val280=)
c.3252G>T (p.Val1084=)
c.3249G>T (p.Val1083=)
c.3237G>T (p.Val1079=)
c.3225G>T (p.Val1075=)
c.3192G>T (p.Val1064=)
c.3135G>T (p.Val1045=)
c.3234G>T (p.Val1078=)
c.3210G>T (p.Val1070=)
c.3045G>T (p.Val1015=)
c.3404G>T (p.Cys1135Phe)
c.3380G>T (p.Cys1127Phe)
c.3377G>T (p.Cys1126Phe)
c.3305G>T (p.Cys1102Phe)
c.3290G>T (p.Cys1097Phe)
c.3215G>T (p.Cys1072Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986342C=CA1156049610ATP13A2c.3422G= (p.Cys1141=)
c.3120G= (p.Val1040=)
c.3407G= (p.Cys1136=)
n.1468G=
c.840G= (p.Val280=)
c.3252G= (p.Val1084=)
c.3249G= (p.Val1083=)
c.3237G= (p.Val1079=)
c.3225G= (p.Val1075=)
c.3192G= (p.Val1064=)
c.3135G= (p.Val1045=)
c.3234G= (p.Val1078=)
c.3210G= (p.Val1070=)
c.3045G= (p.Val1015=)
c.3404G= (p.Cys1135=)
c.3380G= (p.Cys1127=)
c.3377G= (p.Cys1126=)
c.3305G= (p.Cys1102=)
c.3290G= (p.Cys1097=)
c.3215G= (p.Cys1072=)
1g.16986342C>GCA338232536ATP13A2c.3422G>C (p.Cys1141Ser)
c.3120G>C (p.Val1040=)
c.3407G>C (p.Cys1136Ser)
n.1468G>C
c.840G>C (p.Val280=)
c.3252G>C (p.Val1084=)
c.3249G>C (p.Val1083=)
c.3237G>C (p.Val1079=)
c.3225G>C (p.Val1075=)
c.3192G>C (p.Val1064=)
c.3135G>C (p.Val1045=)
c.3234G>C (p.Val1078=)
c.3210G>C (p.Val1070=)
c.3045G>C (p.Val1015=)
c.3404G>C (p.Cys1135Ser)
c.3380G>C (p.Cys1127Ser)
c.3377G>C (p.Cys1126Ser)
c.3305G>C (p.Cys1102Ser)
c.3290G>C (p.Cys1097Ser)
c.3215G>C (p.Cys1072Ser)
1g.16986342C>TCA338232538ATP13A2c.3422G>A (p.Cys1141Tyr)
c.3120G>A (p.Val1040=)
c.3407G>A (p.Cys1136Tyr)
n.1468G>A
c.840G>A (p.Val280=)
c.3252G>A (p.Val1084=)
c.3249G>A (p.Val1083=)
c.3237G>A (p.Val1079=)
c.3225G>A (p.Val1075=)
c.3192G>A (p.Val1064=)
c.3135G>A (p.Val1045=)
c.3234G>A (p.Val1078=)
c.3210G>A (p.Val1070=)
c.3045G>A (p.Val1015=)
c.3404G>A (p.Cys1135Tyr)
c.3380G>A (p.Cys1127Tyr)
c.3377G>A (p.Cys1126Tyr)
c.3305G>A (p.Cys1102Tyr)
c.3290G>A (p.Cys1097Tyr)
c.3215G>A (p.Cys1072Tyr)
 gnomAD v4
1g.16986343A>CCA338232539ATP13A2c.3421T>G (p.Cys1141Gly)
c.3119T>G (p.Val1040Gly)
c.3406T>G (p.Cys1136Gly)
n.1467T>G
c.839T>G (p.Val280Gly)
c.3251T>G (p.Val1084Gly)
c.3248T>G (p.Val1083Gly)
c.3236T>G (p.Val1079Gly)
c.3224T>G (p.Val1075Gly)
c.3191T>G (p.Val1064Gly)
c.3134T>G (p.Val1045Gly)
c.3233T>G (p.Val1078Gly)
c.3209T>G (p.Val1070Gly)
c.3044T>G (p.Val1015Gly)
c.3403T>G (p.Cys1135Gly)
c.3379T>G (p.Cys1127Gly)
c.3376T>G (p.Cys1126Gly)
c.3304T>G (p.Cys1102Gly)
c.3289T>G (p.Cys1097Gly)
c.3214T>G (p.Cys1072Gly)
1g.16986343A>GCA338232543ATP13A2c.3421T>C (p.Cys1141Arg)
c.3119T>C (p.Val1040Ala)
c.3406T>C (p.Cys1136Arg)
n.1467T>C
c.839T>C (p.Val280Ala)
c.3251T>C (p.Val1084Ala)
c.3248T>C (p.Val1083Ala)
c.3236T>C (p.Val1079Ala)
c.3224T>C (p.Val1075Ala)
c.3191T>C (p.Val1064Ala)
c.3134T>C (p.Val1045Ala)
c.3233T>C (p.Val1078Ala)
c.3209T>C (p.Val1070Ala)
c.3044T>C (p.Val1015Ala)
c.3403T>C (p.Cys1135Arg)
c.3379T>C (p.Cys1127Arg)
c.3376T>C (p.Cys1126Arg)
c.3304T>C (p.Cys1102Arg)
c.3289T>C (p.Cys1097Arg)
c.3214T>C (p.Cys1072Arg)
1g.16986343A>TCA338232541ATP13A2c.3421T>A (p.Cys1141Ser)
c.3119T>A (p.Val1040Glu)
c.3406T>A (p.Cys1136Ser)
n.1467T>A
c.839T>A (p.Val280Glu)
c.3251T>A (p.Val1084Glu)
c.3248T>A (p.Val1083Glu)
c.3236T>A (p.Val1079Glu)
c.3224T>A (p.Val1075Glu)
c.3191T>A (p.Val1064Glu)
c.3134T>A (p.Val1045Glu)
c.3233T>A (p.Val1078Glu)
c.3209T>A (p.Val1070Glu)
c.3044T>A (p.Val1015Glu)
c.3403T>A (p.Cys1135Ser)
c.3379T>A (p.Cys1127Ser)
c.3376T>A (p.Cys1126Ser)
c.3304T>A (p.Cys1102Ser)
c.3289T>A (p.Cys1097Ser)
c.3214T>A (p.Cys1072Ser)
1g.16986344C>ACA338232544ATP13A2c.3420G>T (p.Gln1140His)
c.3118G>T (p.Val1040Leu)
c.3405G>T (p.Gln1135His)
n.1466G>T
c.838G>T (p.Val280Leu)
c.3250G>T (p.Val1084Leu)
c.3247G>T (p.Val1083Leu)
c.3235G>T (p.Val1079Leu)
c.3223G>T (p.Val1075Leu)
c.3190G>T (p.Val1064Leu)
c.3133G>T (p.Val1045Leu)
c.3232G>T (p.Val1078Leu)
c.3208G>T (p.Val1070Leu)
c.3043G>T (p.Val1015Leu)
c.3402G>T (p.Gln1134His)
c.3378G>T (p.Gln1126His)
c.3375G>T (p.Gln1125His)
c.3303G>T (p.Gln1101His)
c.3288G>T (p.Gln1096His)
c.3213G>T (p.Gln1071His)
1g.16986344C>GCA338232545ATP13A2c.3420G>C (p.Gln1140His)
c.3118G>C (p.Val1040Leu)
c.3405G>C (p.Gln1135His)
n.1466G>C
c.838G>C (p.Val280Leu)
c.3250G>C (p.Val1084Leu)
c.3247G>C (p.Val1083Leu)
c.3235G>C (p.Val1079Leu)
c.3223G>C (p.Val1075Leu)
c.3190G>C (p.Val1064Leu)
c.3133G>C (p.Val1045Leu)
c.3232G>C (p.Val1078Leu)
c.3208G>C (p.Val1070Leu)
c.3043G>C (p.Val1015Leu)
c.3402G>C (p.Gln1134His)
c.3378G>C (p.Gln1126His)
c.3375G>C (p.Gln1125His)
c.3303G>C (p.Gln1101His)
c.3288G>C (p.Gln1096His)
c.3213G>C (p.Gln1071His)
1g.16986344C>TCA338232547ATP13A2c.3420G>A (p.Gln1140=)
c.3118G>A (p.Val1040Met)
c.3405G>A (p.Gln1135=)
n.1466G>A
c.838G>A (p.Val280Met)
c.3250G>A (p.Val1084Met)
c.3247G>A (p.Val1083Met)
c.3235G>A (p.Val1079Met)
c.3223G>A (p.Val1075Met)
c.3190G>A (p.Val1064Met)
c.3133G>A (p.Val1045Met)
c.3232G>A (p.Val1078Met)
c.3208G>A (p.Val1070Met)
c.3043G>A (p.Val1015Met)
c.3402G>A (p.Gln1134=)
c.3378G>A (p.Gln1126=)
c.3375G>A (p.Gln1125=)
c.3303G>A (p.Gln1101=)
c.3288G>A (p.Gln1096=)
c.3213G>A (p.Gln1071=)
 gnomAD v4
1g.16986345T>ACA338232548ATP13A2c.3419A>T (p.Gln1140Leu)
c.3117A>T (p.Pro1039=)
c.3404A>T (p.Gln1135Leu)
n.1465A>T
c.837A>T (p.Pro279=)
c.3249A>T (p.Pro1083=)
c.3246A>T (p.Pro1082=)
c.3234A>T (p.Pro1078=)
c.3222A>T (p.Pro1074=)
c.3189A>T (p.Pro1063=)
c.3132A>T (p.Pro1044=)
c.3231A>T (p.Pro1077=)
c.3207A>T (p.Pro1069=)
c.3042A>T (p.Pro1014=)
c.3401A>T (p.Gln1134Leu)
c.3377A>T (p.Gln1126Leu)
c.3374A>T (p.Gln1125Leu)
c.3302A>T (p.Gln1101Leu)
c.3287A>T (p.Gln1096Leu)
c.3212A>T (p.Gln1071Leu)
1g.16986345T>CCA338232552ATP13A2c.3419A>G (p.Gln1140Arg)
c.3117A>G (p.Pro1039=)
c.3404A>G (p.Gln1135Arg)
n.1465A>G
c.837A>G (p.Pro279=)
c.3249A>G (p.Pro1083=)
c.3246A>G (p.Pro1082=)
c.3234A>G (p.Pro1078=)
c.3222A>G (p.Pro1074=)
c.3189A>G (p.Pro1063=)
c.3132A>G (p.Pro1044=)
c.3231A>G (p.Pro1077=)
c.3207A>G (p.Pro1069=)
c.3042A>G (p.Pro1014=)
c.3401A>G (p.Gln1134Arg)
c.3377A>G (p.Gln1126Arg)
c.3374A>G (p.Gln1125Arg)
c.3302A>G (p.Gln1101Arg)
c.3287A>G (p.Gln1096Arg)
c.3212A>G (p.Gln1071Arg)
1g.16986345T>GCA338232554ATP13A2c.3419A>C (p.Gln1140Pro)
c.3117A>C (p.Pro1039=)
c.3404A>C (p.Gln1135Pro)
n.1465A>C
c.837A>C (p.Pro279=)
c.3249A>C (p.Pro1083=)
c.3246A>C (p.Pro1082=)
c.3234A>C (p.Pro1078=)
c.3222A>C (p.Pro1074=)
c.3189A>C (p.Pro1063=)
c.3132A>C (p.Pro1044=)
c.3231A>C (p.Pro1077=)
c.3207A>C (p.Pro1069=)
c.3042A>C (p.Pro1014=)
c.3401A>C (p.Gln1134Pro)
c.3377A>C (p.Gln1126Pro)
c.3374A>C (p.Gln1125Pro)
c.3302A>C (p.Gln1101Pro)
c.3287A>C (p.Gln1096Pro)
c.3212A>C (p.Gln1071Pro)
1g.16986346G>ACA16043957ATP13A2c.3418C>T (p.Gln1140Ter)
c.3116C>T (p.Pro1039Leu)
c.3403C>T (p.Gln1135Ter)
n.1464C>T
c.836C>T (p.Pro279Leu)
c.3248C>T (p.Pro1083Leu)
c.3245C>T (p.Pro1082Leu)
c.3233C>T (p.Pro1078Leu)
c.3221C>T (p.Pro1074Leu)
c.3188C>T (p.Pro1063Leu)
c.3131C>T (p.Pro1044Leu)
c.3230C>T (p.Pro1077Leu)
c.3206C>T (p.Pro1069Leu)
c.3041C>T (p.Pro1014Leu)
c.3400C>T (p.Gln1134Ter)
c.3376C>T (p.Gln1126Ter)
c.3373C>T (p.Gln1125Ter)
c.3301C>T (p.Gln1101Ter)
c.3286C>T (p.Gln1096Ter)
c.3211C>T (p.Gln1071Ter)
 ClinVar dbSNP gnomAD v4
1g.16986346G>CCA338232558ATP13A2c.3418C>G (p.Gln1140Glu)
c.3116C>G (p.Pro1039Arg)
c.3403C>G (p.Gln1135Glu)
n.1464C>G
c.836C>G (p.Pro279Arg)
c.3248C>G (p.Pro1083Arg)
c.3245C>G (p.Pro1082Arg)
c.3233C>G (p.Pro1078Arg)
c.3221C>G (p.Pro1074Arg)
c.3188C>G (p.Pro1063Arg)
c.3131C>G (p.Pro1044Arg)
c.3230C>G (p.Pro1077Arg)
c.3206C>G (p.Pro1069Arg)
c.3041C>G (p.Pro1014Arg)
c.3400C>G (p.Gln1134Glu)
c.3376C>G (p.Gln1126Glu)
c.3373C>G (p.Gln1125Glu)
c.3301C>G (p.Gln1101Glu)
c.3286C>G (p.Gln1096Glu)
c.3211C>G (p.Gln1071Glu)
1g.16986346G=CA1156049617ATP13A2c.3418C= (p.Gln1140=)
c.3116C= (p.Pro1039=)
c.3403C= (p.Gln1135=)
n.1464C=
c.836C= (p.Pro279=)
c.3248C= (p.Pro1083=)
c.3245C= (p.Pro1082=)
c.3233C= (p.Pro1078=)
c.3221C= (p.Pro1074=)
c.3188C= (p.Pro1063=)
c.3131C= (p.Pro1044=)
c.3230C= (p.Pro1077=)
c.3206C= (p.Pro1069=)
c.3041C= (p.Pro1014=)
c.3400C= (p.Gln1134=)
c.3376C= (p.Gln1126=)
c.3373C= (p.Gln1125=)
c.3301C= (p.Gln1101=)
c.3286C= (p.Gln1096=)
c.3211C= (p.Gln1071=)
1g.16986346G>TCA338232560ATP13A2c.3418C>A (p.Gln1140Lys)
c.3116C>A (p.Pro1039Gln)
c.3403C>A (p.Gln1135Lys)
n.1464C>A
c.836C>A (p.Pro279Gln)
c.3248C>A (p.Pro1083Gln)
c.3245C>A (p.Pro1082Gln)
c.3233C>A (p.Pro1078Gln)
c.3221C>A (p.Pro1074Gln)
c.3188C>A (p.Pro1063Gln)
c.3131C>A (p.Pro1044Gln)
c.3230C>A (p.Pro1077Gln)
c.3206C>A (p.Pro1069Gln)
c.3041C>A (p.Pro1014Gln)
c.3400C>A (p.Gln1134Lys)
c.3376C>A (p.Gln1126Lys)
c.3373C>A (p.Gln1125Lys)
c.3301C>A (p.Gln1101Lys)
c.3286C>A (p.Gln1096Lys)
c.3211C>A (p.Gln1071Lys)

Number of alleles fetched