Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.16986060G>CCA338230576ATP13A2c.*161C>G (n.*161C>G)
c.3402C>G (p.Asp1134Glu)
n.1750C>G
c.1122C>G (p.Asp374Glu)
c.3534C>G (p.Asp1178Glu)
c.3531C>G (p.Asp1177Glu)
c.3519C>G (p.Asp1173Glu)
c.3507C>G (p.Asp1169Glu)
c.3474C>G (p.Asp1158Glu)
c.3417C>G (p.Asp1139Glu)
c.3516C>G (p.Asp1172Glu)
c.3492C>G (p.Asp1164Glu)
c.3327C>G (p.Asp1109Glu)
1g.16986060G>TCA338230580ATP13A2c.*161C>A (n.*161C>A)
c.3402C>A (p.Asp1134Glu)
n.1750C>A
c.1122C>A (p.Asp374Glu)
c.3534C>A (p.Asp1178Glu)
c.3531C>A (p.Asp1177Glu)
c.3519C>A (p.Asp1173Glu)
c.3507C>A (p.Asp1169Glu)
c.3474C>A (p.Asp1158Glu)
c.3417C>A (p.Asp1139Glu)
c.3516C>A (p.Asp1172Glu)
c.3492C>A (p.Asp1164Glu)
c.3327C>A (p.Asp1109Glu)
1g.16986061T>ACA338230581ATP13A2c.*160A>T (n.*160A>T)
c.3401A>T (p.Asp1134Val)
n.1749A>T
c.1121A>T (p.Asp374Val)
c.3533A>T (p.Asp1178Val)
c.3530A>T (p.Asp1177Val)
c.3518A>T (p.Asp1173Val)
c.3506A>T (p.Asp1169Val)
c.3473A>T (p.Asp1158Val)
c.3416A>T (p.Asp1139Val)
c.3515A>T (p.Asp1172Val)
c.3491A>T (p.Asp1164Val)
c.3326A>T (p.Asp1109Val)
1g.16986061T>CCA338230588ATP13A2c.*160A>G (n.*160A>G)
c.3401A>G (p.Asp1134Gly)
n.1749A>G
c.1121A>G (p.Asp374Gly)
c.3533A>G (p.Asp1178Gly)
c.3530A>G (p.Asp1177Gly)
c.3518A>G (p.Asp1173Gly)
c.3506A>G (p.Asp1169Gly)
c.3473A>G (p.Asp1158Gly)
c.3416A>G (p.Asp1139Gly)
c.3515A>G (p.Asp1172Gly)
c.3491A>G (p.Asp1164Gly)
c.3326A>G (p.Asp1109Gly)
 gnomAD v4
1g.16986061T>GCA338230590ATP13A2c.*160A>C (n.*160A>C)
c.3401A>C (p.Asp1134Ala)
n.1749A>C
c.1121A>C (p.Asp374Ala)
c.3533A>C (p.Asp1178Ala)
c.3530A>C (p.Asp1177Ala)
c.3518A>C (p.Asp1173Ala)
c.3506A>C (p.Asp1169Ala)
c.3473A>C (p.Asp1158Ala)
c.3416A>C (p.Asp1139Ala)
c.3515A>C (p.Asp1172Ala)
c.3491A>C (p.Asp1164Ala)
c.3326A>C (p.Asp1109Ala)
1g.16986062C>ACA338230598ATP13A2c.*159G>T (n.*159G>T)
c.3400G>T (p.Asp1134Tyr)
n.1748G>T
c.1120G>T (p.Asp374Tyr)
c.3532G>T (p.Asp1178Tyr)
c.3529G>T (p.Asp1177Tyr)
c.3517G>T (p.Asp1173Tyr)
c.3505G>T (p.Asp1169Tyr)
c.3472G>T (p.Asp1158Tyr)
c.3415G>T (p.Asp1139Tyr)
c.3514G>T (p.Asp1172Tyr)
c.3490G>T (p.Asp1164Tyr)
c.3325G>T (p.Asp1109Tyr)
 gnomAD v4
1g.16986062C=CA1156048751ATP13A2c.*159G= (n.*159G=)
c.3400G= (p.Asp1134=)
n.1748G=
c.1120G= (p.Asp374=)
c.3532G= (p.Asp1178=)
c.3529G= (p.Asp1177=)
c.3517G= (p.Asp1173=)
c.3505G= (p.Asp1169=)
c.3472G= (p.Asp1158=)
c.3415G= (p.Asp1139=)
c.3514G= (p.Asp1172=)
c.3490G= (p.Asp1164=)
c.3325G= (p.Asp1109=)
1g.16986062C>GCA18624266ATP13A2c.*159G>C (n.*159G>C)
c.3400G>C (p.Asp1134His)
n.1748G>C
c.1120G>C (p.Asp374His)
c.3532G>C (p.Asp1178His)
c.3529G>C (p.Asp1177His)
c.3517G>C (p.Asp1173His)
c.3505G>C (p.Asp1169His)
c.3472G>C (p.Asp1158His)
c.3415G>C (p.Asp1139His)
c.3514G>C (p.Asp1172His)
c.3490G>C (p.Asp1164His)
c.3325G>C (p.Asp1109His)
 dbSNP
1g.16986062C>TCA338230601ATP13A2c.*159G>A (n.*159G>A)
c.3400G>A (p.Asp1134Asn)
n.1748G>A
c.1120G>A (p.Asp374Asn)
c.3532G>A (p.Asp1178Asn)
c.3529G>A (p.Asp1177Asn)
c.3517G>A (p.Asp1173Asn)
c.3505G>A (p.Asp1169Asn)
c.3472G>A (p.Asp1158Asn)
c.3415G>A (p.Asp1139Asn)
c.3514G>A (p.Asp1172Asn)
c.3490G>A (p.Asp1164Asn)
c.3325G>A (p.Asp1109Asn)
1g.16986062_16986064delinsCAACA1156048753ATP13A2c.*157_*159delinsTTG (n.*157_*159delinsTTG)
c.3398_3400delinsTTG (p.Val1133=)
n.1746_1748delinsTTG
c.1118_1120delinsTTG (p.Val373=)
c.3530_3532delinsTTG (p.Val1177=)
c.3527_3529delinsTTG (p.Val1176=)
c.3515_3517delinsTTG (p.Val1172=)
c.3503_3505delinsTTG (p.Val1168=)
c.3470_3472delinsTTG (p.Val1157=)
c.3413_3415delinsTTG (p.Val1138=)
c.3512_3514delinsTTG (p.Val1171=)
c.3488_3490delinsTTG (p.Val1163=)
c.3323_3325delinsTTG (p.Val1108=)
1g.16986063A=CA1142779322ATP13A2c.*158T= (n.*158T=)
c.3399T= (p.Val1133=)
n.1747T=
c.1119T= (p.Val373=)
c.3531T= (p.Val1177=)
c.3528T= (p.Val1176=)
c.3516T= (p.Val1172=)
c.3504T= (p.Val1168=)
c.3471T= (p.Val1157=)
c.3414T= (p.Val1138=)
c.3513T= (p.Val1171=)
c.3489T= (p.Val1163=)
c.3324T= (p.Val1108=)
1g.16986063A>CCA636413ATP13A2c.*158T>G (n.*158T>G)
c.3399T>G (p.Val1133=)
n.1747T>G
c.1119T>G (p.Val373=)
c.3531T>G (p.Val1177=)
c.3528T>G (p.Val1176=)
c.3516T>G (p.Val1172=)
c.3504T>G (p.Val1168=)
c.3471T>G (p.Val1157=)
c.3414T>G (p.Val1138=)
c.3513T>G (p.Val1171=)
c.3489T>G (p.Val1163=)
c.3324T>G (p.Val1108=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986063A>GCA636412ATP13A2c.*158T>C (n.*158T>C)
c.3399T>C (p.Val1133=)
n.1747T>C
c.1119T>C (p.Val373=)
c.3531T>C (p.Val1177=)
c.3528T>C (p.Val1176=)
c.3516T>C (p.Val1172=)
c.3504T>C (p.Val1168=)
c.3471T>C (p.Val1157=)
c.3414T>C (p.Val1138=)
c.3513T>C (p.Val1171=)
c.3489T>C (p.Val1163=)
c.3324T>C (p.Val1108=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986063_16986064delCA1156048759ATP13A2c.*157_*158del (n.*157_*158del)
c.3398_3399del (p.Val1133GlyfsTer12)
n.1746_1747del
c.1118_1119del (p.Val373GlyfsTer12)
c.3530_3531del (p.Val1177GlyfsTer12)
c.3527_3528del (p.Val1176GlyfsTer12)
c.3515_3516del (p.Val1172GlyfsTer12)
c.3503_3504del (p.Val1168GlyfsTer12)
c.3470_3471del (p.Val1157GlyfsTer12)
c.3413_3414del (p.Val1138GlyfsTer12)
c.3512_3513del (p.Val1171GlyfsTer12)
c.3488_3489del (p.Val1163GlyfsTer12)
c.3323_3324del (p.Val1108GlyfsTer12)
 dbSNP
1g.16986064A>CCA338230608ATP13A2c.*157T>G (n.*157T>G)
c.3398T>G (p.Val1133Gly)
n.1746T>G
c.1118T>G (p.Val373Gly)
c.3530T>G (p.Val1177Gly)
c.3527T>G (p.Val1176Gly)
c.3515T>G (p.Val1172Gly)
c.3503T>G (p.Val1168Gly)
c.3470T>G (p.Val1157Gly)
c.3413T>G (p.Val1138Gly)
c.3512T>G (p.Val1171Gly)
c.3488T>G (p.Val1163Gly)
c.3323T>G (p.Val1108Gly)
1g.16986064A>GCA338230610ATP13A2c.*157T>C (n.*157T>C)
c.3398T>C (p.Val1133Ala)
n.1746T>C
c.1118T>C (p.Val373Ala)
c.3530T>C (p.Val1177Ala)
c.3527T>C (p.Val1176Ala)
c.3515T>C (p.Val1172Ala)
c.3503T>C (p.Val1168Ala)
c.3470T>C (p.Val1157Ala)
c.3413T>C (p.Val1138Ala)
c.3512T>C (p.Val1171Ala)
c.3488T>C (p.Val1163Ala)
c.3323T>C (p.Val1108Ala)
1g.16986064A>TCA338230607ATP13A2c.*157T>A (n.*157T>A)
c.3398T>A (p.Val1133Asp)
n.1746T>A
c.1118T>A (p.Val373Asp)
c.3530T>A (p.Val1177Asp)
c.3527T>A (p.Val1176Asp)
c.3515T>A (p.Val1172Asp)
c.3503T>A (p.Val1168Asp)
c.3470T>A (p.Val1157Asp)
c.3413T>A (p.Val1138Asp)
c.3512T>A (p.Val1171Asp)
c.3488T>A (p.Val1163Asp)
c.3323T>A (p.Val1108Asp)
1g.16986065C>ACA338230612ATP13A2c.*156G>T (n.*156G>T)
c.3397G>T (p.Val1133Phe)
n.1745G>T
c.1117G>T (p.Val373Phe)
c.3529G>T (p.Val1177Phe)
c.3526G>T (p.Val1176Phe)
c.3514G>T (p.Val1172Phe)
c.3502G>T (p.Val1168Phe)
c.3469G>T (p.Val1157Phe)
c.3412G>T (p.Val1138Phe)
c.3511G>T (p.Val1171Phe)
c.3487G>T (p.Val1163Phe)
c.3322G>T (p.Val1108Phe)
1g.16986065C=CA1145379443ATP13A2c.*156G= (n.*156G=)
c.3397G= (p.Val1133=)
n.1745G=
c.1117G= (p.Val373=)
c.3529G= (p.Val1177=)
c.3526G= (p.Val1176=)
c.3514G= (p.Val1172=)
c.3502G= (p.Val1168=)
c.3469G= (p.Val1157=)
c.3412G= (p.Val1138=)
c.3511G= (p.Val1171=)
c.3487G= (p.Val1163=)
c.3322G= (p.Val1108=)
1g.16986065C>GCA338230613ATP13A2c.*156G>C (n.*156G>C)
c.3397G>C (p.Val1133Leu)
n.1745G>C
c.1117G>C (p.Val373Leu)
c.3529G>C (p.Val1177Leu)
c.3526G>C (p.Val1176Leu)
c.3514G>C (p.Val1172Leu)
c.3502G>C (p.Val1168Leu)
c.3469G>C (p.Val1157Leu)
c.3412G>C (p.Val1138Leu)
c.3511G>C (p.Val1171Leu)
c.3487G>C (p.Val1163Leu)
c.3322G>C (p.Val1108Leu)
1g.16986065C>TCA636414ATP13A2c.*156G>A (n.*156G>A)
c.3397G>A (p.Val1133Ile)
n.1745G>A
c.1117G>A (p.Val373Ile)
c.3529G>A (p.Val1177Ile)
c.3526G>A (p.Val1176Ile)
c.3514G>A (p.Val1172Ile)
c.3502G>A (p.Val1168Ile)
c.3469G>A (p.Val1157Ile)
c.3412G>A (p.Val1138Ile)
c.3511G>A (p.Val1171Ile)
c.3487G>A (p.Val1163Ile)
c.3322G>A (p.Val1108Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986066G>ACA636415ATP13A2c.*155C>T (n.*155C>T)
c.3396C>T (p.Ser1132=)
n.1744C>T
c.1116C>T (p.Ser372=)
c.3528C>T (p.Ser1176=)
c.3525C>T (p.Ser1175=)
c.3513C>T (p.Ser1171=)
c.3501C>T (p.Ser1167=)
c.3468C>T (p.Ser1156=)
c.3411C>T (p.Ser1137=)
c.3510C>T (p.Ser1170=)
c.3486C>T (p.Ser1162=)
c.3321C>T (p.Ser1107=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986066G>CCA338230615ATP13A2c.*155C>G (n.*155C>G)
c.3396C>G (p.Ser1132Arg)
n.1744C>G
c.1116C>G (p.Ser372Arg)
c.3528C>G (p.Ser1176Arg)
c.3525C>G (p.Ser1175Arg)
c.3513C>G (p.Ser1171Arg)
c.3501C>G (p.Ser1167Arg)
c.3468C>G (p.Ser1156Arg)
c.3411C>G (p.Ser1137Arg)
c.3510C>G (p.Ser1170Arg)
c.3486C>G (p.Ser1162Arg)
c.3321C>G (p.Ser1107Arg)
1g.16986066G=CA1156048766ATP13A2c.*155C= (n.*155C=)
c.3396C= (p.Ser1132=)
n.1744C=
c.1116C= (p.Ser372=)
c.3528C= (p.Ser1176=)
c.3525C= (p.Ser1175=)
c.3513C= (p.Ser1171=)
c.3501C= (p.Ser1167=)
c.3468C= (p.Ser1156=)
c.3411C= (p.Ser1137=)
c.3510C= (p.Ser1170=)
c.3486C= (p.Ser1162=)
c.3321C= (p.Ser1107=)
1g.16986066G>TCA338230618ATP13A2c.*155C>A (n.*155C>A)
c.3396C>A (p.Ser1132Arg)
n.1744C>A
c.1116C>A (p.Ser372Arg)
c.3528C>A (p.Ser1176Arg)
c.3525C>A (p.Ser1175Arg)
c.3513C>A (p.Ser1171Arg)
c.3501C>A (p.Ser1167Arg)
c.3468C>A (p.Ser1156Arg)
c.3411C>A (p.Ser1137Arg)
c.3510C>A (p.Ser1170Arg)
c.3486C>A (p.Ser1162Arg)
c.3321C>A (p.Ser1107Arg)
 gnomAD v4
1g.16986067C>ACA338230620ATP13A2c.*154G>T (n.*154G>T)
c.3395G>T (p.Ser1132Ile)
n.1743G>T
c.1115G>T (p.Ser372Ile)
c.3527G>T (p.Ser1176Ile)
c.3524G>T (p.Ser1175Ile)
c.3512G>T (p.Ser1171Ile)
c.3500G>T (p.Ser1167Ile)
c.3467G>T (p.Ser1156Ile)
c.3410G>T (p.Ser1137Ile)
c.3509G>T (p.Ser1170Ile)
c.3485G>T (p.Ser1162Ile)
c.3320G>T (p.Ser1107Ile)
 gnomAD v4
1g.16986067C>GCA338230622ATP13A2c.*154G>C (n.*154G>C)
c.3395G>C (p.Ser1132Thr)
n.1743G>C
c.1115G>C (p.Ser372Thr)
c.3527G>C (p.Ser1176Thr)
c.3524G>C (p.Ser1175Thr)
c.3512G>C (p.Ser1171Thr)
c.3500G>C (p.Ser1167Thr)
c.3467G>C (p.Ser1156Thr)
c.3410G>C (p.Ser1137Thr)
c.3509G>C (p.Ser1170Thr)
c.3485G>C (p.Ser1162Thr)
c.3320G>C (p.Ser1107Thr)
1g.16986067C>TCA338230624ATP13A2c.*154G>A (n.*154G>A)
c.3395G>A (p.Ser1132Asn)
n.1743G>A
c.1115G>A (p.Ser372Asn)
c.3527G>A (p.Ser1176Asn)
c.3524G>A (p.Ser1175Asn)
c.3512G>A (p.Ser1171Asn)
c.3500G>A (p.Ser1167Asn)
c.3467G>A (p.Ser1156Asn)
c.3410G>A (p.Ser1137Asn)
c.3509G>A (p.Ser1170Asn)
c.3485G>A (p.Ser1162Asn)
c.3320G>A (p.Ser1107Asn)
1g.16986068T>ACA338230628ATP13A2c.*153A>T (n.*153A>T)
c.3394A>T (p.Ser1132Cys)
n.1742A>T
c.1114A>T (p.Ser372Cys)
c.3526A>T (p.Ser1176Cys)
c.3523A>T (p.Ser1175Cys)
c.3511A>T (p.Ser1171Cys)
c.3499A>T (p.Ser1167Cys)
c.3466A>T (p.Ser1156Cys)
c.3409A>T (p.Ser1137Cys)
c.3508A>T (p.Ser1170Cys)
c.3484A>T (p.Ser1162Cys)
c.3319A>T (p.Ser1107Cys)
1g.16986068T>CCA338230631ATP13A2c.*153A>G (n.*153A>G)
c.3394A>G (p.Ser1132Gly)
n.1742A>G
c.1114A>G (p.Ser372Gly)
c.3526A>G (p.Ser1176Gly)
c.3523A>G (p.Ser1175Gly)
c.3511A>G (p.Ser1171Gly)
c.3499A>G (p.Ser1167Gly)
c.3466A>G (p.Ser1156Gly)
c.3409A>G (p.Ser1137Gly)
c.3508A>G (p.Ser1170Gly)
c.3484A>G (p.Ser1162Gly)
c.3319A>G (p.Ser1107Gly)
1g.16986068T>GCA338230634ATP13A2c.*153A>C (n.*153A>C)
c.3394A>C (p.Ser1132Arg)
n.1742A>C
c.1114A>C (p.Ser372Arg)
c.3526A>C (p.Ser1176Arg)
c.3523A>C (p.Ser1175Arg)
c.3511A>C (p.Ser1171Arg)
c.3499A>C (p.Ser1167Arg)
c.3466A>C (p.Ser1156Arg)
c.3409A>C (p.Ser1137Arg)
c.3508A>C (p.Ser1170Arg)
c.3484A>C (p.Ser1162Arg)
c.3319A>C (p.Ser1107Arg)
1g.16986069T>CCA2695407043ATP13A2c.*152A>G (n.*152A>G)
c.3393A>G (p.Gly1131=)
n.1741A>G
c.1113A>G (p.Gly371=)
c.3525A>G (p.Gly1175=)
c.3522A>G (p.Gly1174=)
c.3510A>G (p.Gly1170=)
c.3498A>G (p.Gly1166=)
c.3465A>G (p.Gly1155=)
c.3408A>G (p.Gly1136=)
c.3507A>G (p.Gly1169=)
c.3483A>G (p.Gly1161=)
c.3318A>G (p.Gly1106=)
 dbSNP
1g.16986069T=CA1156048770ATP13A2c.*152A= (n.*152A=)
c.3393A= (p.Gly1131=)
n.1741A=
c.1113A= (p.Gly371=)
c.3525A= (p.Gly1175=)
c.3522A= (p.Gly1174=)
c.3510A= (p.Gly1170=)
c.3498A= (p.Gly1166=)
c.3465A= (p.Gly1155=)
c.3408A= (p.Gly1136=)
c.3507A= (p.Gly1169=)
c.3483A= (p.Gly1161=)
c.3318A= (p.Gly1106=)
1g.16986070C>ACA338230635ATP13A2c.*151G>T (n.*151G>T)
c.3392G>T (p.Gly1131Val)
n.1740G>T
c.1112G>T (p.Gly371Val)
c.3524G>T (p.Gly1175Val)
c.3521G>T (p.Gly1174Val)
c.3509G>T (p.Gly1170Val)
c.3497G>T (p.Gly1166Val)
c.3464G>T (p.Gly1155Val)
c.3407G>T (p.Gly1136Val)
c.3506G>T (p.Gly1169Val)
c.3482G>T (p.Gly1161Val)
c.3317G>T (p.Gly1106Val)
1g.16986070C=CA1156048781ATP13A2c.*151G= (n.*151G=)
c.3392G= (p.Gly1131=)
n.1740G=
c.1112G= (p.Gly371=)
c.3524G= (p.Gly1175=)
c.3521G= (p.Gly1174=)
c.3509G= (p.Gly1170=)
c.3497G= (p.Gly1166=)
c.3464G= (p.Gly1155=)
c.3407G= (p.Gly1136=)
c.3506G= (p.Gly1169=)
c.3482G= (p.Gly1161=)
c.3317G= (p.Gly1106=)
1g.16986070C>GCA338230639ATP13A2c.*151G>C (n.*151G>C)
c.3392G>C (p.Gly1131Ala)
n.1740G>C
c.1112G>C (p.Gly371Ala)
c.3524G>C (p.Gly1175Ala)
c.3521G>C (p.Gly1174Ala)
c.3509G>C (p.Gly1170Ala)
c.3497G>C (p.Gly1166Ala)
c.3464G>C (p.Gly1155Ala)
c.3407G>C (p.Gly1136Ala)
c.3506G>C (p.Gly1169Ala)
c.3482G>C (p.Gly1161Ala)
c.3317G>C (p.Gly1106Ala)
1g.16986070C>TCA338230641ATP13A2c.*151G>A (n.*151G>A)
c.3392G>A (p.Gly1131Glu)
n.1740G>A
c.1112G>A (p.Gly371Glu)
c.3524G>A (p.Gly1175Glu)
c.3521G>A (p.Gly1174Glu)
c.3509G>A (p.Gly1170Glu)
c.3497G>A (p.Gly1166Glu)
c.3464G>A (p.Gly1155Glu)
c.3407G>A (p.Gly1136Glu)
c.3506G>A (p.Gly1169Glu)
c.3482G>A (p.Gly1161Glu)
c.3317G>A (p.Gly1106Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.16986073dupCA636416ATP13A2c.*151dup (n.*151dup)
c.3392dup (p.Ser1132LysfsTer3)
n.1740dup
c.1112dup (p.Ser372LysfsTer3)
c.3524dup (p.Ser1176LysfsTer3)
c.3521dup (p.Ser1175LysfsTer3)
c.3509dup (p.Ser1171LysfsTer3)
c.3497dup (p.Ser1167LysfsTer3)
c.3464dup (p.Ser1156LysfsTer3)
c.3407dup (p.Ser1137LysfsTer3)
c.3506dup (p.Ser1170LysfsTer3)
c.3482dup (p.Ser1162LysfsTer3)
c.3317dup (p.Ser1107LysfsTer3)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986071C>ACA338230642ATP13A2c.*150G>T (n.*150G>T)
c.3391G>T (p.Gly1131Ter)
n.1739G>T
c.1111G>T (p.Gly371Ter)
c.3523G>T (p.Gly1175Ter)
c.3520G>T (p.Gly1174Ter)
c.3508G>T (p.Gly1170Ter)
c.3496G>T (p.Gly1166Ter)
c.3463G>T (p.Gly1155Ter)
c.3406G>T (p.Gly1136Ter)
c.3505G>T (p.Gly1169Ter)
c.3481G>T (p.Gly1161Ter)
c.3316G>T (p.Gly1106Ter)
1g.16986071C>GCA338230644ATP13A2c.*150G>C (n.*150G>C)
c.3391G>C (p.Gly1131Arg)
n.1739G>C
c.1111G>C (p.Gly371Arg)
c.3523G>C (p.Gly1175Arg)
c.3520G>C (p.Gly1174Arg)
c.3508G>C (p.Gly1170Arg)
c.3496G>C (p.Gly1166Arg)
c.3463G>C (p.Gly1155Arg)
c.3406G>C (p.Gly1136Arg)
c.3505G>C (p.Gly1169Arg)
c.3481G>C (p.Gly1161Arg)
c.3316G>C (p.Gly1106Arg)
1g.16986071C>TCA338230643ATP13A2c.*150G>A (n.*150G>A)
c.3391G>A (p.Gly1131Arg)
n.1739G>A
c.1111G>A (p.Gly371Arg)
c.3523G>A (p.Gly1175Arg)
c.3520G>A (p.Gly1174Arg)
c.3508G>A (p.Gly1170Arg)
c.3496G>A (p.Gly1166Arg)
c.3463G>A (p.Gly1155Arg)
c.3406G>A (p.Gly1136Arg)
c.3505G>A (p.Gly1169Arg)
c.3481G>A (p.Gly1161Arg)
c.3316G>A (p.Gly1106Arg)
 dbSNP
1g.16986072C>ACA338230645ATP13A2c.*149G>T (n.*149G>T)
c.3390G>T (p.Trp1130Cys)
n.1738G>T
c.1110G>T (p.Trp370Cys)
c.3522G>T (p.Trp1174Cys)
c.3519G>T (p.Trp1173Cys)
c.3507G>T (p.Trp1169Cys)
c.3495G>T (p.Trp1165Cys)
c.3462G>T (p.Trp1154Cys)
c.3405G>T (p.Trp1135Cys)
c.3504G>T (p.Trp1168Cys)
c.3480G>T (p.Trp1160Cys)
c.3315G>T (p.Trp1105Cys)
 gnomAD v4
1g.16986072C=CA1156048785ATP13A2c.*149G= (n.*149G=)
c.3390G= (p.Trp1130=)
n.1738G=
c.1110G= (p.Trp370=)
c.3522G= (p.Trp1174=)
c.3519G= (p.Trp1173=)
c.3507G= (p.Trp1169=)
c.3495G= (p.Trp1165=)
c.3462G= (p.Trp1154=)
c.3405G= (p.Trp1135=)
c.3504G= (p.Trp1168=)
c.3480G= (p.Trp1160=)
c.3315G= (p.Trp1105=)
1g.16986072C>GCA338230647ATP13A2c.*149G>C (n.*149G>C)
c.3390G>C (p.Trp1130Cys)
n.1738G>C
c.1110G>C (p.Trp370Cys)
c.3522G>C (p.Trp1174Cys)
c.3519G>C (p.Trp1173Cys)
c.3507G>C (p.Trp1169Cys)
c.3495G>C (p.Trp1165Cys)
c.3462G>C (p.Trp1154Cys)
c.3405G>C (p.Trp1135Cys)
c.3504G>C (p.Trp1168Cys)
c.3480G>C (p.Trp1160Cys)
c.3315G>C (p.Trp1105Cys)
1g.16986072C>TCA338230648ATP13A2c.*149G>A (n.*149G>A)
c.3390G>A (p.Trp1130Ter)
n.1738G>A
c.1110G>A (p.Trp370Ter)
c.3522G>A (p.Trp1174Ter)
c.3519G>A (p.Trp1173Ter)
c.3507G>A (p.Trp1169Ter)
c.3495G>A (p.Trp1165Ter)
c.3462G>A (p.Trp1154Ter)
c.3405G>A (p.Trp1135Ter)
c.3504G>A (p.Trp1168Ter)
c.3480G>A (p.Trp1160Ter)
c.3315G>A (p.Trp1105Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.16986073C>ACA338230649ATP13A2c.*148G>T (n.*148G>T)
c.3389G>T (p.Trp1130Leu)
n.1737G>T
c.1109G>T (p.Trp370Leu)
c.3521G>T (p.Trp1174Leu)
c.3518G>T (p.Trp1173Leu)
c.3506G>T (p.Trp1169Leu)
c.3494G>T (p.Trp1165Leu)
c.3461G>T (p.Trp1154Leu)
c.3404G>T (p.Trp1135Leu)
c.3503G>T (p.Trp1168Leu)
c.3479G>T (p.Trp1160Leu)
c.3314G>T (p.Trp1105Leu)
1g.16986073C=CA1156048787ATP13A2c.*148G= (n.*148G=)
c.3389G= (p.Trp1130=)
n.1737G=
c.1109G= (p.Trp370=)
c.3521G= (p.Trp1174=)
c.3518G= (p.Trp1173=)
c.3506G= (p.Trp1169=)
c.3494G= (p.Trp1165=)
c.3461G= (p.Trp1154=)
c.3404G= (p.Trp1135=)
c.3503G= (p.Trp1168=)
c.3479G= (p.Trp1160=)
c.3314G= (p.Trp1105=)
1g.16986073C>GCA338230651ATP13A2c.*148G>C (n.*148G>C)
c.3389G>C (p.Trp1130Ser)
n.1737G>C
c.1109G>C (p.Trp370Ser)
c.3521G>C (p.Trp1174Ser)
c.3518G>C (p.Trp1173Ser)
c.3506G>C (p.Trp1169Ser)
c.3494G>C (p.Trp1165Ser)
c.3461G>C (p.Trp1154Ser)
c.3404G>C (p.Trp1135Ser)
c.3503G>C (p.Trp1168Ser)
c.3479G>C (p.Trp1160Ser)
c.3314G>C (p.Trp1105Ser)
1g.16986073C>TCA338230653ATP13A2c.*148G>A (n.*148G>A)
c.3389G>A (p.Trp1130Ter)
n.1737G>A
c.1109G>A (p.Trp370Ter)
c.3521G>A (p.Trp1174Ter)
c.3518G>A (p.Trp1173Ter)
c.3506G>A (p.Trp1169Ter)
c.3494G>A (p.Trp1165Ter)
c.3461G>A (p.Trp1154Ter)
c.3404G>A (p.Trp1135Ter)
c.3503G>A (p.Trp1168Ter)
c.3479G>A (p.Trp1160Ter)
c.3314G>A (p.Trp1105Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986074A>CCA338230655ATP13A2c.*147T>G (n.*147T>G)
c.3388T>G (p.Trp1130Gly)
n.1736T>G
c.1108T>G (p.Trp370Gly)
c.3520T>G (p.Trp1174Gly)
c.3517T>G (p.Trp1173Gly)
c.3505T>G (p.Trp1169Gly)
c.3493T>G (p.Trp1165Gly)
c.3460T>G (p.Trp1154Gly)
c.3403T>G (p.Trp1135Gly)
c.3502T>G (p.Trp1168Gly)
c.3478T>G (p.Trp1160Gly)
c.3313T>G (p.Trp1105Gly)
 dbSNP
1g.16986074A>GCA338230657ATP13A2c.*147T>C (n.*147T>C)
c.3388T>C (p.Trp1130Arg)
n.1736T>C
c.1108T>C (p.Trp370Arg)
c.3520T>C (p.Trp1174Arg)
c.3517T>C (p.Trp1173Arg)
c.3505T>C (p.Trp1169Arg)
c.3493T>C (p.Trp1165Arg)
c.3460T>C (p.Trp1154Arg)
c.3403T>C (p.Trp1135Arg)
c.3502T>C (p.Trp1168Arg)
c.3478T>C (p.Trp1160Arg)
c.3313T>C (p.Trp1105Arg)
1g.16986074A>TCA338230658ATP13A2c.*147T>A (n.*147T>A)
c.3388T>A (p.Trp1130Arg)
n.1736T>A
c.1108T>A (p.Trp370Arg)
c.3520T>A (p.Trp1174Arg)
c.3517T>A (p.Trp1173Arg)
c.3505T>A (p.Trp1169Arg)
c.3493T>A (p.Trp1165Arg)
c.3460T>A (p.Trp1154Arg)
c.3403T>A (p.Trp1135Arg)
c.3502T>A (p.Trp1168Arg)
c.3478T>A (p.Trp1160Arg)
c.3313T>A (p.Trp1105Arg)
 dbSNP
1g.16986075G>ACA636417ATP13A2c.*146C>T (n.*146C>T)
c.3387C>T (p.Pro1129=)
n.1735C>T
c.1107C>T (p.Pro369=)
c.3519C>T (p.Pro1173=)
c.3516C>T (p.Pro1172=)
c.3504C>T (p.Pro1168=)
c.3492C>T (p.Pro1164=)
c.3459C>T (p.Pro1153=)
c.3402C>T (p.Pro1134=)
c.3501C>T (p.Pro1167=)
c.3477C>T (p.Pro1159=)
c.3312C>T (p.Pro1104=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986075G=CA1145031133ATP13A2c.*146C= (n.*146C=)
c.3387C= (p.Pro1129=)
n.1735C=
c.1107C= (p.Pro369=)
c.3519C= (p.Pro1173=)
c.3516C= (p.Pro1172=)
c.3504C= (p.Pro1168=)
c.3492C= (p.Pro1164=)
c.3459C= (p.Pro1153=)
c.3402C= (p.Pro1134=)
c.3501C= (p.Pro1167=)
c.3477C= (p.Pro1159=)
c.3312C= (p.Pro1104=)
1g.16986078_16986081dupCA2643667692ATP13A2c.*143_*146dup (n.*143_*146dup)
c.3384_3387dup (p.Trp1130ThrfsTer6)
n.1732_1735dup
c.1104_1107dup (p.Trp370ThrfsTer6)
c.3516_3519dup (p.Trp1174ThrfsTer6)
c.3513_3516dup (p.Trp1173ThrfsTer6)
c.3501_3504dup (p.Trp1169ThrfsTer6)
c.3489_3492dup (p.Trp1165ThrfsTer6)
c.3456_3459dup (p.Trp1154ThrfsTer6)
c.3399_3402dup (p.Trp1135ThrfsTer6)
c.3498_3501dup (p.Trp1168ThrfsTer6)
c.3474_3477dup (p.Trp1160ThrfsTer6)
c.3309_3312dup (p.Trp1105ThrfsTer6)
 gnomAD v4
1g.16986076G>ACA338230667ATP13A2c.*145C>T (n.*145C>T)
c.3386C>T (p.Pro1129Leu)
n.1734C>T
c.1106C>T (p.Pro369Leu)
c.3518C>T (p.Pro1173Leu)
c.3515C>T (p.Pro1172Leu)
c.3503C>T (p.Pro1168Leu)
c.3491C>T (p.Pro1164Leu)
c.3458C>T (p.Pro1153Leu)
c.3401C>T (p.Pro1134Leu)
c.3500C>T (p.Pro1167Leu)
c.3476C>T (p.Pro1159Leu)
c.3311C>T (p.Pro1104Leu)
 ClinVar dbSNP gnomAD v4
1g.16986076G>CCA338230666ATP13A2c.*145C>G (n.*145C>G)
c.3386C>G (p.Pro1129Arg)
n.1734C>G
c.1106C>G (p.Pro369Arg)
c.3518C>G (p.Pro1173Arg)
c.3515C>G (p.Pro1172Arg)
c.3503C>G (p.Pro1168Arg)
c.3491C>G (p.Pro1164Arg)
c.3458C>G (p.Pro1153Arg)
c.3401C>G (p.Pro1134Arg)
c.3500C>G (p.Pro1167Arg)
c.3476C>G (p.Pro1159Arg)
c.3311C>G (p.Pro1104Arg)
1g.16986076G=CA1156048790ATP13A2c.*145C= (n.*145C=)
c.3386C= (p.Pro1129=)
n.1734C=
c.1106C= (p.Pro369=)
c.3518C= (p.Pro1173=)
c.3515C= (p.Pro1172=)
c.3503C= (p.Pro1168=)
c.3491C= (p.Pro1164=)
c.3458C= (p.Pro1153=)
c.3401C= (p.Pro1134=)
c.3500C= (p.Pro1167=)
c.3476C= (p.Pro1159=)
c.3311C= (p.Pro1104=)
1g.16986076G>TCA18624310ATP13A2c.*145C>A (n.*145C>A)
c.3386C>A (p.Pro1129His)
n.1734C>A
c.1106C>A (p.Pro369His)
c.3518C>A (p.Pro1173His)
c.3515C>A (p.Pro1172His)
c.3503C>A (p.Pro1168His)
c.3491C>A (p.Pro1164His)
c.3458C>A (p.Pro1153His)
c.3401C>A (p.Pro1134His)
c.3500C>A (p.Pro1167His)
c.3476C>A (p.Pro1159His)
c.3311C>A (p.Pro1104His)
 dbSNP
1g.16986077G>ACA338230668ATP13A2c.*144C>T (n.*144C>T)
c.3385C>T (p.Pro1129Ser)
n.1733C>T
c.1105C>T (p.Pro369Ser)
c.3517C>T (p.Pro1173Ser)
c.3514C>T (p.Pro1172Ser)
c.3502C>T (p.Pro1168Ser)
c.3490C>T (p.Pro1164Ser)
c.3457C>T (p.Pro1153Ser)
c.3400C>T (p.Pro1134Ser)
c.3499C>T (p.Pro1167Ser)
c.3475C>T (p.Pro1159Ser)
c.3310C>T (p.Pro1104Ser)
 dbSNP gnomAD v2
1g.16986077G>CCA338230669ATP13A2c.*144C>G (n.*144C>G)
c.3385C>G (p.Pro1129Ala)
n.1733C>G
c.1105C>G (p.Pro369Ala)
c.3517C>G (p.Pro1173Ala)
c.3514C>G (p.Pro1172Ala)
c.3502C>G (p.Pro1168Ala)
c.3490C>G (p.Pro1164Ala)
c.3457C>G (p.Pro1153Ala)
c.3400C>G (p.Pro1134Ala)
c.3499C>G (p.Pro1167Ala)
c.3475C>G (p.Pro1159Ala)
c.3310C>G (p.Pro1104Ala)
1g.16986077G=CA1156048792ATP13A2c.*144C= (n.*144C=)
c.3385C= (p.Pro1129=)
n.1733C=
c.1105C= (p.Pro369=)
c.3517C= (p.Pro1173=)
c.3514C= (p.Pro1172=)
c.3502C= (p.Pro1168=)
c.3490C= (p.Pro1164=)
c.3457C= (p.Pro1153=)
c.3400C= (p.Pro1134=)
c.3499C= (p.Pro1167=)
c.3475C= (p.Pro1159=)
c.3310C= (p.Pro1104=)
1g.16986077G>TCA338230670ATP13A2c.*144C>A (n.*144C>A)
c.3385C>A (p.Pro1129Thr)
n.1733C>A
c.1105C>A (p.Pro369Thr)
c.3517C>A (p.Pro1173Thr)
c.3514C>A (p.Pro1172Thr)
c.3502C>A (p.Pro1168Thr)
c.3490C>A (p.Pro1164Thr)
c.3457C>A (p.Pro1153Thr)
c.3400C>A (p.Pro1134Thr)
c.3499C>A (p.Pro1167Thr)
c.3475C>A (p.Pro1159Thr)
c.3310C>A (p.Pro1104Thr)
 dbSNP gnomAD v2
1g.16986078T>ACA2643667700ATP13A2c.*143A>T (n.*143A>T)
c.3384A>T (p.Pro1128=)
n.1732A>T
c.1104A>T (p.Pro368=)
c.3516A>T (p.Pro1172=)
c.3513A>T (p.Pro1171=)
c.3501A>T (p.Pro1167=)
c.3489A>T (p.Pro1163=)
c.3456A>T (p.Pro1152=)
c.3399A>T (p.Pro1133=)
c.3498A>T (p.Pro1166=)
c.3474A>T (p.Pro1158=)
c.3309A>T (p.Pro1103=)
 gnomAD v4
1g.16986078T>GCA999084916ATP13A2c.*143A>C (n.*143A>C)
c.3384A>C (p.Pro1128=)
n.1732A>C
c.1104A>C (p.Pro368=)
c.3516A>C (p.Pro1172=)
c.3513A>C (p.Pro1171=)
c.3501A>C (p.Pro1167=)
c.3489A>C (p.Pro1163=)
c.3456A>C (p.Pro1152=)
c.3399A>C (p.Pro1133=)
c.3498A>C (p.Pro1166=)
c.3474A>C (p.Pro1158=)
c.3309A>C (p.Pro1103=)
 dbSNP gnomAD v3 gnomAD v4
1g.16986079G>ACA338230671ATP13A2c.*142C>T (n.*142C>T)
c.3383C>T (p.Pro1128Leu)
n.1731C>T
c.1103C>T (p.Pro368Leu)
c.3515C>T (p.Pro1172Leu)
c.3512C>T (p.Pro1171Leu)
c.3500C>T (p.Pro1167Leu)
c.3488C>T (p.Pro1163Leu)
c.3455C>T (p.Pro1152Leu)
c.3398C>T (p.Pro1133Leu)
c.3497C>T (p.Pro1166Leu)
c.3473C>T (p.Pro1158Leu)
c.3308C>T (p.Pro1103Leu)
 gnomAD v4
1g.16986079G>CCA338230673ATP13A2c.*142C>G (n.*142C>G)
c.3383C>G (p.Pro1128Arg)
n.1731C>G
c.1103C>G (p.Pro368Arg)
c.3515C>G (p.Pro1172Arg)
c.3512C>G (p.Pro1171Arg)
c.3500C>G (p.Pro1167Arg)
c.3488C>G (p.Pro1163Arg)
c.3455C>G (p.Pro1152Arg)
c.3398C>G (p.Pro1133Arg)
c.3497C>G (p.Pro1166Arg)
c.3473C>G (p.Pro1158Arg)
c.3308C>G (p.Pro1103Arg)
 gnomAD v4
1g.16986079G=CA1156048796ATP13A2c.*142C= (n.*142C=)
c.3383C= (p.Pro1128=)
n.1731C=
c.1103C= (p.Pro368=)
c.3515C= (p.Pro1172=)
c.3512C= (p.Pro1171=)
c.3500C= (p.Pro1167=)
c.3488C= (p.Pro1163=)
c.3455C= (p.Pro1152=)
c.3398C= (p.Pro1133=)
c.3497C= (p.Pro1166=)
c.3473C= (p.Pro1158=)
c.3308C= (p.Pro1103=)
1g.16986079G>TCA636418ATP13A2c.*142C>A (n.*142C>A)
c.3383C>A (p.Pro1128Gln)
n.1731C>A
c.1103C>A (p.Pro368Gln)
c.3515C>A (p.Pro1172Gln)
c.3512C>A (p.Pro1171Gln)
c.3500C>A (p.Pro1167Gln)
c.3488C>A (p.Pro1163Gln)
c.3455C>A (p.Pro1152Gln)
c.3398C>A (p.Pro1133Gln)
c.3497C>A (p.Pro1166Gln)
c.3473C>A (p.Pro1158Gln)
c.3308C>A (p.Pro1103Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986083delCA2643667704ATP13A2c.*142del (n.*142del)
c.3383del (p.Pro1128HisfsTer?)
n.1731del
c.1103del (p.Pro368HisfsTer?)
c.3515del (p.Pro1172HisfsTer?)
c.3512del (p.Pro1171HisfsTer?)
c.3500del (p.Pro1167HisfsTer?)
c.3488del (p.Pro1163HisfsTer?)
c.3455del (p.Pro1152HisfsTer?)
c.3398del (p.Pro1133HisfsTer?)
c.3497del (p.Pro1166HisfsTer?)
c.3473del (p.Pro1158HisfsTer?)
c.3308del (p.Pro1103HisfsTer?)
 gnomAD v4
1g.16986080G>ACA338230674ATP13A2c.*141C>T (n.*141C>T)
c.3382C>T (p.Pro1128Ser)
n.1730C>T
c.1102C>T (p.Pro368Ser)
c.3514C>T (p.Pro1172Ser)
c.3511C>T (p.Pro1171Ser)
c.3499C>T (p.Pro1167Ser)
c.3487C>T (p.Pro1163Ser)
c.3454C>T (p.Pro1152Ser)
c.3397C>T (p.Pro1133Ser)
c.3496C>T (p.Pro1166Ser)
c.3472C>T (p.Pro1158Ser)
c.3307C>T (p.Pro1103Ser)
1g.16986080G>CCA338230676ATP13A2c.*141C>G (n.*141C>G)
c.3382C>G (p.Pro1128Ala)
n.1730C>G
c.1102C>G (p.Pro368Ala)
c.3514C>G (p.Pro1172Ala)
c.3511C>G (p.Pro1171Ala)
c.3499C>G (p.Pro1167Ala)
c.3487C>G (p.Pro1163Ala)
c.3454C>G (p.Pro1152Ala)
c.3397C>G (p.Pro1133Ala)
c.3496C>G (p.Pro1166Ala)
c.3472C>G (p.Pro1158Ala)
c.3307C>G (p.Pro1103Ala)
1g.16986080G>TCA338230678ATP13A2c.*141C>A (n.*141C>A)
c.3382C>A (p.Pro1128Thr)
n.1730C>A
c.1102C>A (p.Pro368Thr)
c.3514C>A (p.Pro1172Thr)
c.3511C>A (p.Pro1171Thr)
c.3499C>A (p.Pro1167Thr)
c.3487C>A (p.Pro1163Thr)
c.3454C>A (p.Pro1152Thr)
c.3397C>A (p.Pro1133Thr)
c.3496C>A (p.Pro1166Thr)
c.3472C>A (p.Pro1158Thr)
c.3307C>A (p.Pro1103Thr)
1g.16986081G>CCA636419ATP13A2c.*140C>G (n.*140C>G)
c.3381C>G (p.Pro1127=)
n.1729C>G
c.1101C>G (p.Pro367=)
c.3513C>G (p.Pro1171=)
c.3510C>G (p.Pro1170=)
c.3498C>G (p.Pro1166=)
c.3486C>G (p.Pro1162=)
c.3453C>G (p.Pro1151=)
c.3396C>G (p.Pro1132=)
c.3495C>G (p.Pro1165=)
c.3471C>G (p.Pro1157=)
c.3306C>G (p.Pro1102=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986081G=CA1146542995ATP13A2c.*140C= (n.*140C=)
c.3381C= (p.Pro1127=)
n.1729C=
c.1101C= (p.Pro367=)
c.3513C= (p.Pro1171=)
c.3510C= (p.Pro1170=)
c.3498C= (p.Pro1166=)
c.3486C= (p.Pro1162=)
c.3453C= (p.Pro1151=)
c.3396C= (p.Pro1132=)
c.3495C= (p.Pro1165=)
c.3471C= (p.Pro1157=)
c.3306C= (p.Pro1102=)
1g.16986082G>ACA18624343ATP13A2c.*139C>T (n.*139C>T)
c.3380C>T (p.Pro1127Leu)
n.1728C>T
c.1100C>T (p.Pro367Leu)
c.3512C>T (p.Pro1171Leu)
c.3509C>T (p.Pro1170Leu)
c.3497C>T (p.Pro1166Leu)
c.3485C>T (p.Pro1162Leu)
c.3452C>T (p.Pro1151Leu)
c.3395C>T (p.Pro1132Leu)
c.3494C>T (p.Pro1165Leu)
c.3470C>T (p.Pro1157Leu)
c.3305C>T (p.Pro1102Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986082G>CCA338230681ATP13A2c.*139C>G (n.*139C>G)
c.3380C>G (p.Pro1127Arg)
n.1728C>G
c.1100C>G (p.Pro367Arg)
c.3512C>G (p.Pro1171Arg)
c.3509C>G (p.Pro1170Arg)
c.3497C>G (p.Pro1166Arg)
c.3485C>G (p.Pro1162Arg)
c.3452C>G (p.Pro1151Arg)
c.3395C>G (p.Pro1132Arg)
c.3494C>G (p.Pro1165Arg)
c.3470C>G (p.Pro1157Arg)
c.3305C>G (p.Pro1102Arg)
1g.16986082G=CA1156048808ATP13A2c.*139C= (n.*139C=)
c.3380C= (p.Pro1127=)
n.1728C=
c.1100C= (p.Pro367=)
c.3512C= (p.Pro1171=)
c.3509C= (p.Pro1170=)
c.3497C= (p.Pro1166=)
c.3485C= (p.Pro1162=)
c.3452C= (p.Pro1151=)
c.3395C= (p.Pro1132=)
c.3494C= (p.Pro1165=)
c.3470C= (p.Pro1157=)
c.3305C= (p.Pro1102=)
1g.16986082G>TCA338230682ATP13A2c.*139C>A (n.*139C>A)
c.3380C>A (p.Pro1127His)
n.1728C>A
c.1100C>A (p.Pro367His)
c.3512C>A (p.Pro1171His)
c.3509C>A (p.Pro1170His)
c.3497C>A (p.Pro1166His)
c.3485C>A (p.Pro1162His)
c.3452C>A (p.Pro1151His)
c.3395C>A (p.Pro1132His)
c.3494C>A (p.Pro1165His)
c.3470C>A (p.Pro1157His)
c.3305C>A (p.Pro1102His)
1g.16986083G>ACA338230685ATP13A2c.*138C>T (n.*138C>T)
c.3379C>T (p.Pro1127Ser)
n.1727C>T
c.1099C>T (p.Pro367Ser)
c.3511C>T (p.Pro1171Ser)
c.3508C>T (p.Pro1170Ser)
c.3496C>T (p.Pro1166Ser)
c.3484C>T (p.Pro1162Ser)
c.3451C>T (p.Pro1151Ser)
c.3394C>T (p.Pro1132Ser)
c.3493C>T (p.Pro1165Ser)
c.3469C>T (p.Pro1157Ser)
c.3304C>T (p.Pro1102Ser)
 ClinVar
1g.16986083G>CCA338230683ATP13A2c.*138C>G (n.*138C>G)
c.3379C>G (p.Pro1127Ala)
n.1727C>G
c.1099C>G (p.Pro367Ala)
c.3511C>G (p.Pro1171Ala)
c.3508C>G (p.Pro1170Ala)
c.3496C>G (p.Pro1166Ala)
c.3484C>G (p.Pro1162Ala)
c.3451C>G (p.Pro1151Ala)
c.3394C>G (p.Pro1132Ala)
c.3493C>G (p.Pro1165Ala)
c.3469C>G (p.Pro1157Ala)
c.3304C>G (p.Pro1102Ala)
1g.16986083G=CA1156048815ATP13A2c.*138C= (n.*138C=)
c.3379C= (p.Pro1127=)
n.1727C=
c.1099C= (p.Pro367=)
c.3511C= (p.Pro1171=)
c.3508C= (p.Pro1170=)
c.3496C= (p.Pro1166=)
c.3484C= (p.Pro1162=)
c.3451C= (p.Pro1151=)
c.3394C= (p.Pro1132=)
c.3493C= (p.Pro1165=)
c.3469C= (p.Pro1157=)
c.3304C= (p.Pro1102=)
1g.16986083G>TCA636420ATP13A2c.*138C>A (n.*138C>A)
c.3379C>A (p.Pro1127Thr)
n.1727C>A
c.1099C>A (p.Pro367Thr)
c.3511C>A (p.Pro1171Thr)
c.3508C>A (p.Pro1170Thr)
c.3496C>A (p.Pro1166Thr)
c.3484C>A (p.Pro1162Thr)
c.3451C>A (p.Pro1151Thr)
c.3394C>A (p.Pro1132Thr)
c.3493C>A (p.Pro1165Thr)
c.3469C>A (p.Pro1157Thr)
c.3304C>A (p.Pro1102Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.16986084T>ACA890928313ATP13A2c.*137A>T (n.*137A>T)
c.3378A>T (p.Pro1126=)
n.1726A>T
c.1098A>T (p.Pro366=)
c.3510A>T (p.Pro1170=)
c.3507A>T (p.Pro1169=)
c.3495A>T (p.Pro1165=)
c.3483A>T (p.Pro1161=)
c.3450A>T (p.Pro1150=)
c.3393A>T (p.Pro1131=)
c.3492A>T (p.Pro1164=)
c.3468A>T (p.Pro1156=)
c.3303A>T (p.Pro1101=)
 dbSNP gnomAD v3 gnomAD v4
1g.16986084T>CCA636421ATP13A2c.*137A>G (n.*137A>G)
c.3378A>G (p.Pro1126=)
n.1726A>G
c.1098A>G (p.Pro366=)
c.3510A>G (p.Pro1170=)
c.3507A>G (p.Pro1169=)
c.3495A>G (p.Pro1165=)
c.3483A>G (p.Pro1161=)
c.3450A>G (p.Pro1150=)
c.3393A>G (p.Pro1131=)
c.3492A>G (p.Pro1164=)
c.3468A>G (p.Pro1156=)
c.3303A>G (p.Pro1101=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986084T>GCA2643667730ATP13A2c.*137A>C (n.*137A>C)
c.3378A>C (p.Pro1126=)
n.1726A>C
c.1098A>C (p.Pro366=)
c.3510A>C (p.Pro1170=)
c.3507A>C (p.Pro1169=)
c.3495A>C (p.Pro1165=)
c.3483A>C (p.Pro1161=)
c.3450A>C (p.Pro1150=)
c.3393A>C (p.Pro1131=)
c.3492A>C (p.Pro1164=)
c.3468A>C (p.Pro1156=)
c.3303A>C (p.Pro1101=)
 dbSNP gnomAD v4
1g.16986084T=CA1143558522ATP13A2c.*137A= (n.*137A=)
c.3378A= (p.Pro1126=)
n.1726A=
c.1098A= (p.Pro366=)
c.3510A= (p.Pro1170=)
c.3507A= (p.Pro1169=)
c.3495A= (p.Pro1165=)
c.3483A= (p.Pro1161=)
c.3450A= (p.Pro1150=)
c.3393A= (p.Pro1131=)
c.3492A= (p.Pro1164=)
c.3468A= (p.Pro1156=)
c.3303A= (p.Pro1101=)
1g.16986085G>ACA338230686ATP13A2c.*136C>T (n.*136C>T)
c.3377C>T (p.Pro1126Leu)
n.1725C>T
c.1097C>T (p.Pro366Leu)
c.3509C>T (p.Pro1170Leu)
c.3506C>T (p.Pro1169Leu)
c.3494C>T (p.Pro1165Leu)
c.3482C>T (p.Pro1161Leu)
c.3449C>T (p.Pro1150Leu)
c.3392C>T (p.Pro1131Leu)
c.3491C>T (p.Pro1164Leu)
c.3467C>T (p.Pro1156Leu)
c.3302C>T (p.Pro1101Leu)
1g.16986085G>CCA338230687ATP13A2c.*136C>G (n.*136C>G)
c.3377C>G (p.Pro1126Arg)
n.1725C>G
c.1097C>G (p.Pro366Arg)
c.3509C>G (p.Pro1170Arg)
c.3506C>G (p.Pro1169Arg)
c.3494C>G (p.Pro1165Arg)
c.3482C>G (p.Pro1161Arg)
c.3449C>G (p.Pro1150Arg)
c.3392C>G (p.Pro1131Arg)
c.3491C>G (p.Pro1164Arg)
c.3467C>G (p.Pro1156Arg)
c.3302C>G (p.Pro1101Arg)
 dbSNP
1g.16986085G=CA1156048818ATP13A2c.*136C= (n.*136C=)
c.3377C= (p.Pro1126=)
n.1725C=
c.1097C= (p.Pro366=)
c.3509C= (p.Pro1170=)
c.3506C= (p.Pro1169=)
c.3494C= (p.Pro1165=)
c.3482C= (p.Pro1161=)
c.3449C= (p.Pro1150=)
c.3392C= (p.Pro1131=)
c.3491C= (p.Pro1164=)
c.3467C= (p.Pro1156=)
c.3302C= (p.Pro1101=)
1g.16986085G>TCA338230689ATP13A2c.*136C>A (n.*136C>A)
c.3377C>A (p.Pro1126Gln)
n.1725C>A
c.1097C>A (p.Pro366Gln)
c.3509C>A (p.Pro1170Gln)
c.3506C>A (p.Pro1169Gln)
c.3494C>A (p.Pro1165Gln)
c.3482C>A (p.Pro1161Gln)
c.3449C>A (p.Pro1150Gln)
c.3392C>A (p.Pro1131Gln)
c.3491C>A (p.Pro1164Gln)
c.3467C>A (p.Pro1156Gln)
c.3302C>A (p.Pro1101Gln)
1g.16986086G>ACA338230690ATP13A2c.*135C>T (n.*135C>T)
c.3376C>T (p.Pro1126Ser)
n.1724C>T
c.1096C>T (p.Pro366Ser)
c.3508C>T (p.Pro1170Ser)
c.3505C>T (p.Pro1169Ser)
c.3493C>T (p.Pro1165Ser)
c.3481C>T (p.Pro1161Ser)
c.3448C>T (p.Pro1150Ser)
c.3391C>T (p.Pro1131Ser)
c.3490C>T (p.Pro1164Ser)
c.3466C>T (p.Pro1156Ser)
c.3301C>T (p.Pro1101Ser)
1g.16986086G>CCA338230691ATP13A2c.*135C>G (n.*135C>G)
c.3376C>G (p.Pro1126Ala)
n.1724C>G
c.1096C>G (p.Pro366Ala)
c.3508C>G (p.Pro1170Ala)
c.3505C>G (p.Pro1169Ala)
c.3493C>G (p.Pro1165Ala)
c.3481C>G (p.Pro1161Ala)
c.3448C>G (p.Pro1150Ala)
c.3391C>G (p.Pro1131Ala)
c.3490C>G (p.Pro1164Ala)
c.3466C>G (p.Pro1156Ala)
c.3301C>G (p.Pro1101Ala)
1g.16986086G>TCA338230693ATP13A2c.*135C>A (n.*135C>A)
c.3376C>A (p.Pro1126Thr)
n.1724C>A
c.1096C>A (p.Pro366Thr)
c.3508C>A (p.Pro1170Thr)
c.3505C>A (p.Pro1169Thr)
c.3493C>A (p.Pro1165Thr)
c.3481C>A (p.Pro1161Thr)
c.3448C>A (p.Pro1150Thr)
c.3391C>A (p.Pro1131Thr)
c.3490C>A (p.Pro1164Thr)
c.3466C>A (p.Pro1156Thr)
c.3301C>A (p.Pro1101Thr)
1g.16986087T>ACA338230694ATP13A2c.*134A>T (n.*134A>T)
c.3375A>T (p.Arg1125Ser)
n.1723A>T
c.1095A>T (p.Arg365Ser)
c.3507A>T (p.Arg1169Ser)
c.3504A>T (p.Arg1168Ser)
c.3492A>T (p.Arg1164Ser)
c.3480A>T (p.Arg1160Ser)
c.3447A>T (p.Arg1149Ser)
c.3390A>T (p.Arg1130Ser)
c.3489A>T (p.Arg1163Ser)
c.3465A>T (p.Arg1155Ser)
c.3300A>T (p.Arg1100Ser)
 gnomAD v4
1g.16986087T>CCA2643667733ATP13A2c.*134A>G (n.*134A>G)
c.3375A>G (p.Arg1125=)
n.1723A>G
c.1095A>G (p.Arg365=)
c.3507A>G (p.Arg1169=)
c.3504A>G (p.Arg1168=)
c.3492A>G (p.Arg1164=)
c.3480A>G (p.Arg1160=)
c.3447A>G (p.Arg1149=)
c.3390A>G (p.Arg1130=)
c.3489A>G (p.Arg1163=)
c.3465A>G (p.Arg1155=)
c.3300A>G (p.Arg1100=)
 gnomAD v4
1g.16986087T>GCA338230695ATP13A2c.*134A>C (n.*134A>C)
c.3375A>C (p.Arg1125Ser)
n.1723A>C
c.1095A>C (p.Arg365Ser)
c.3507A>C (p.Arg1169Ser)
c.3504A>C (p.Arg1168Ser)
c.3492A>C (p.Arg1164Ser)
c.3480A>C (p.Arg1160Ser)
c.3447A>C (p.Arg1149Ser)
c.3390A>C (p.Arg1130Ser)
c.3489A>C (p.Arg1163Ser)
c.3465A>C (p.Arg1155Ser)
c.3300A>C (p.Arg1100Ser)
 dbSNP
1g.16986088C>ACA338230697ATP13A2c.*133G>T (n.*133G>T)
c.3374G>T (p.Arg1125Ile)
n.1722G>T
c.1094G>T (p.Arg365Ile)
c.3506G>T (p.Arg1169Ile)
c.3503G>T (p.Arg1168Ile)
c.3491G>T (p.Arg1164Ile)
c.3479G>T (p.Arg1160Ile)
c.3446G>T (p.Arg1149Ile)
c.3389G>T (p.Arg1130Ile)
c.3488G>T (p.Arg1163Ile)
c.3464G>T (p.Arg1155Ile)
c.3299G>T (p.Arg1100Ile)
 gnomAD v4
1g.16986088C>GCA338230698ATP13A2c.*133G>C (n.*133G>C)
c.3374G>C (p.Arg1125Thr)
n.1722G>C
c.1094G>C (p.Arg365Thr)
c.3506G>C (p.Arg1169Thr)
c.3503G>C (p.Arg1168Thr)
c.3491G>C (p.Arg1164Thr)
c.3479G>C (p.Arg1160Thr)
c.3446G>C (p.Arg1149Thr)
c.3389G>C (p.Arg1130Thr)
c.3488G>C (p.Arg1163Thr)
c.3464G>C (p.Arg1155Thr)
c.3299G>C (p.Arg1100Thr)
1g.16986088C>TCA338230699ATP13A2c.*133G>A (n.*133G>A)
c.3374G>A (p.Arg1125Lys)
n.1722G>A
c.1094G>A (p.Arg365Lys)
c.3506G>A (p.Arg1169Lys)
c.3503G>A (p.Arg1168Lys)
c.3491G>A (p.Arg1164Lys)
c.3479G>A (p.Arg1160Lys)
c.3446G>A (p.Arg1149Lys)
c.3389G>A (p.Arg1130Lys)
c.3488G>A (p.Arg1163Lys)
c.3464G>A (p.Arg1155Lys)
c.3299G>A (p.Arg1100Lys)
 gnomAD v4
1g.16986088_16986089insAGCA2643667745ATP13A2c.*132_*133insCT (n.*132_*133insCT)
c.3373_3374insCT (p.Arg1125ThrfsTer?)
n.1721_1722insCT
c.1093_1094insCT (p.Arg365ThrfsTer?)
c.3505_3506insCT (p.Arg1169ThrfsTer?)
c.3502_3503insCT (p.Arg1168ThrfsTer?)
c.3490_3491insCT (p.Arg1164ThrfsTer?)
c.3478_3479insCT (p.Arg1160ThrfsTer?)
c.3445_3446insCT (p.Arg1149ThrfsTer?)
c.3388_3389insCT (p.Arg1130ThrfsTer?)
c.3487_3488insCT (p.Arg1163ThrfsTer?)
c.3463_3464insCT (p.Arg1155ThrfsTer?)
c.3298_3299insCT (p.Arg1100ThrfsTer?)
 gnomAD v4
1g.16986088_16986089insAGTCAGCTCCCTACTCACCATGGCTGGGCCAGGGCA2643667747ATP13A2c.*132_*133insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (n.*132_*133insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT)
c.3373_3374insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1125ThrfsTer7)
n.1721_1722insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT
c.1093_1094insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg365ThrfsTer7)
c.3505_3506insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1169ThrfsTer7)
c.3502_3503insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1168ThrfsTer7)
c.3490_3491insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1164ThrfsTer7)
c.3478_3479insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1160ThrfsTer7)
c.3445_3446insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1149ThrfsTer7)
c.3388_3389insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1130ThrfsTer7)
c.3487_3488insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1163ThrfsTer7)
c.3463_3464insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1155ThrfsTer7)
c.3298_3299insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1100ThrfsTer7)
 gnomAD v4
1g.16986089T>ACA338230702ATP13A2c.*132A>T (n.*132A>T)
c.3373A>T (p.Arg1125Ter)
n.1721A>T
c.1093A>T (p.Arg365Ter)
c.3505A>T (p.Arg1169Ter)
c.3502A>T (p.Arg1168Ter)
c.3490A>T (p.Arg1164Ter)
c.3478A>T (p.Arg1160Ter)
c.3445A>T (p.Arg1149Ter)
c.3388A>T (p.Arg1130Ter)
c.3487A>T (p.Arg1163Ter)
c.3463A>T (p.Arg1155Ter)
c.3298A>T (p.Arg1100Ter)
1g.16986089T>CCA338230701ATP13A2c.*132A>G (n.*132A>G)
c.3373A>G (p.Arg1125Gly)
n.1721A>G
c.1093A>G (p.Arg365Gly)
c.3505A>G (p.Arg1169Gly)
c.3502A>G (p.Arg1168Gly)
c.3490A>G (p.Arg1164Gly)
c.3478A>G (p.Arg1160Gly)
c.3445A>G (p.Arg1149Gly)
c.3388A>G (p.Arg1130Gly)
c.3487A>G (p.Arg1163Gly)
c.3463A>G (p.Arg1155Gly)
c.3298A>G (p.Arg1100Gly)
1g.16986089T>GCA2643667748ATP13A2c.*132A>C (n.*132A>C)
c.3373A>C (p.Arg1125=)
n.1721A>C
c.1093A>C (p.Arg365=)
c.3505A>C (p.Arg1169=)
c.3502A>C (p.Arg1168=)
c.3490A>C (p.Arg1164=)
c.3478A>C (p.Arg1160=)
c.3445A>C (p.Arg1149=)
c.3388A>C (p.Arg1130=)
c.3487A>C (p.Arg1163=)
c.3463A>C (p.Arg1155=)
c.3298A>C (p.Arg1100=)
 dbSNP gnomAD v4
1g.16986090C>ACA636422ATP13A2c.*131G>T (n.*131G>T)
c.3372G>T (p.Pro1124=)
n.1720G>T
c.1092G>T (p.Pro364=)
c.3504G>T (p.Pro1168=)
c.3501G>T (p.Pro1167=)
c.3489G>T (p.Pro1163=)
c.3477G>T (p.Pro1159=)
c.3444G>T (p.Pro1148=)
c.3387G>T (p.Pro1129=)
c.3486G>T (p.Pro1162=)
c.3462G>T (p.Pro1154=)
c.3297G>T (p.Pro1099=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.16986090C=CA1156048821ATP13A2c.*131G= (n.*131G=)
c.3372G= (p.Pro1124=)
n.1720G=
c.1092G= (p.Pro364=)
c.3504G= (p.Pro1168=)
c.3501G= (p.Pro1167=)
c.3489G= (p.Pro1163=)
c.3477G= (p.Pro1159=)
c.3444G= (p.Pro1148=)
c.3387G= (p.Pro1129=)
c.3486G= (p.Pro1162=)
c.3462G= (p.Pro1154=)
c.3297G= (p.Pro1099=)
1g.16986090C>TCA18624367ATP13A2c.*131G>A (n.*131G>A)
c.3372G>A (p.Pro1124=)
n.1720G>A
c.1092G>A (p.Pro364=)
c.3504G>A (p.Pro1168=)
c.3501G>A (p.Pro1167=)
c.3489G>A (p.Pro1163=)
c.3477G>A (p.Pro1159=)
c.3444G>A (p.Pro1148=)
c.3387G>A (p.Pro1129=)
c.3486G>A (p.Pro1162=)
c.3462G>A (p.Pro1154=)
c.3297G>A (p.Pro1099=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986091G>ACA636423ATP13A2c.*130C>T (n.*130C>T)
c.3371C>T (p.Pro1124Leu)
n.1719C>T
c.1091C>T (p.Pro364Leu)
c.3503C>T (p.Pro1168Leu)
c.3500C>T (p.Pro1167Leu)
c.3488C>T (p.Pro1163Leu)
c.3476C>T (p.Pro1159Leu)
c.3443C>T (p.Pro1148Leu)
c.3386C>T (p.Pro1129Leu)
c.3485C>T (p.Pro1162Leu)
c.3461C>T (p.Pro1154Leu)
c.3296C>T (p.Pro1099Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986091G>CCA338230704ATP13A2c.*130C>G (n.*130C>G)
c.3371C>G (p.Pro1124Arg)
n.1719C>G
c.1091C>G (p.Pro364Arg)
c.3503C>G (p.Pro1168Arg)
c.3500C>G (p.Pro1167Arg)
c.3488C>G (p.Pro1163Arg)
c.3476C>G (p.Pro1159Arg)
c.3443C>G (p.Pro1148Arg)
c.3386C>G (p.Pro1129Arg)
c.3485C>G (p.Pro1162Arg)
c.3461C>G (p.Pro1154Arg)
c.3296C>G (p.Pro1099Arg)
 dbSNP gnomAD v4
1g.16986091G=CA1143061182ATP13A2c.*130C= (n.*130C=)
c.3371C= (p.Pro1124=)
n.1719C=
c.1091C= (p.Pro364=)
c.3503C= (p.Pro1168=)
c.3500C= (p.Pro1167=)
c.3488C= (p.Pro1163=)
c.3476C= (p.Pro1159=)
c.3443C= (p.Pro1148=)
c.3386C= (p.Pro1129=)
c.3485C= (p.Pro1162=)
c.3461C= (p.Pro1154=)
c.3296C= (p.Pro1099=)
1g.16986091G>TCA338230707ATP13A2c.*130C>A (n.*130C>A)
c.3371C>A (p.Pro1124Gln)
n.1719C>A
c.1091C>A (p.Pro364Gln)
c.3503C>A (p.Pro1168Gln)
c.3500C>A (p.Pro1167Gln)
c.3488C>A (p.Pro1163Gln)
c.3476C>A (p.Pro1159Gln)
c.3443C>A (p.Pro1148Gln)
c.3386C>A (p.Pro1129Gln)
c.3485C>A (p.Pro1162Gln)
c.3461C>A (p.Pro1154Gln)
c.3296C>A (p.Pro1099Gln)
 gnomAD v4
1g.16986095delCA2643667759ATP13A2c.*130del (n.*130del)
c.3371del (p.Pro1124ArgfsTer?)
n.1719del
c.1091del (p.Pro364ArgfsTer?)
c.3503del (p.Pro1168ArgfsTer?)
c.3500del (p.Pro1167ArgfsTer?)
c.3488del (p.Pro1163ArgfsTer?)
c.3476del (p.Pro1159ArgfsTer?)
c.3443del (p.Pro1148ArgfsTer?)
c.3386del (p.Pro1129ArgfsTer?)
c.3485del (p.Pro1162ArgfsTer?)
c.3461del (p.Pro1154ArgfsTer?)
c.3296del (p.Pro1099ArgfsTer?)
 gnomAD v4
1g.16986092G>ACA338230713ATP13A2c.*129C>T (n.*129C>T)
c.3370C>T (p.Pro1124Ser)
n.1718C>T
c.1090C>T (p.Pro364Ser)
c.3502C>T (p.Pro1168Ser)
c.3499C>T (p.Pro1167Ser)
c.3487C>T (p.Pro1163Ser)
c.3475C>T (p.Pro1159Ser)
c.3442C>T (p.Pro1148Ser)
c.3385C>T (p.Pro1129Ser)
c.3484C>T (p.Pro1162Ser)
c.3460C>T (p.Pro1154Ser)
c.3295C>T (p.Pro1099Ser)
 COSMIC
1g.16986092G>CCA338230715ATP13A2c.*129C>G (n.*129C>G)
c.3370C>G (p.Pro1124Ala)
n.1718C>G
c.1090C>G (p.Pro364Ala)
c.3502C>G (p.Pro1168Ala)
c.3499C>G (p.Pro1167Ala)
c.3487C>G (p.Pro1163Ala)
c.3475C>G (p.Pro1159Ala)
c.3442C>G (p.Pro1148Ala)
c.3385C>G (p.Pro1129Ala)
c.3484C>G (p.Pro1162Ala)
c.3460C>G (p.Pro1154Ala)
c.3295C>G (p.Pro1099Ala)
1g.16986092G>TCA338230714ATP13A2c.*129C>A (n.*129C>A)
c.3370C>A (p.Pro1124Thr)
n.1718C>A
c.1090C>A (p.Pro364Thr)
c.3502C>A (p.Pro1168Thr)
c.3499C>A (p.Pro1167Thr)
c.3487C>A (p.Pro1163Thr)
c.3475C>A (p.Pro1159Thr)
c.3442C>A (p.Pro1148Thr)
c.3385C>A (p.Pro1129Thr)
c.3484C>A (p.Pro1162Thr)
c.3460C>A (p.Pro1154Thr)
c.3295C>A (p.Pro1099Thr)
1g.16986093G>ACA18624378ATP13A2c.*128C>T (n.*128C>T)
c.3369C>T (p.Pro1123=)
n.1717C>T
c.1089C>T (p.Pro363=)
c.3501C>T (p.Pro1167=)
c.3498C>T (p.Pro1166=)
c.3486C>T (p.Pro1162=)
c.3474C>T (p.Pro1158=)
c.3441C>T (p.Pro1147=)
c.3384C>T (p.Pro1128=)
c.3483C>T (p.Pro1161=)
c.3459C>T (p.Pro1153=)
c.3294C>T (p.Pro1098=)
 dbSNP gnomAD v4
1g.16986093G=CA1146766513ATP13A2c.*128C= (n.*128C=)
c.3369C= (p.Pro1123=)
n.1717C=
c.1089C= (p.Pro363=)
c.3501C= (p.Pro1167=)
c.3498C= (p.Pro1166=)
c.3486C= (p.Pro1162=)
c.3474C= (p.Pro1158=)
c.3441C= (p.Pro1147=)
c.3384C= (p.Pro1128=)
c.3483C= (p.Pro1161=)
c.3459C= (p.Pro1153=)
c.3294C= (p.Pro1098=)
1g.16986094G>ACA338230719ATP13A2c.*127C>T (n.*127C>T)
c.3368C>T (p.Pro1123Leu)
n.1716C>T
c.1088C>T (p.Pro363Leu)
c.3500C>T (p.Pro1167Leu)
c.3497C>T (p.Pro1166Leu)
c.3485C>T (p.Pro1162Leu)
c.3473C>T (p.Pro1158Leu)
c.3440C>T (p.Pro1147Leu)
c.3383C>T (p.Pro1128Leu)
c.3482C>T (p.Pro1161Leu)
c.3458C>T (p.Pro1153Leu)
c.3293C>T (p.Pro1098Leu)
1g.16986094G>CCA338230721ATP13A2c.*127C>G (n.*127C>G)
c.3368C>G (p.Pro1123Arg)
n.1716C>G
c.1088C>G (p.Pro363Arg)
c.3500C>G (p.Pro1167Arg)
c.3497C>G (p.Pro1166Arg)
c.3485C>G (p.Pro1162Arg)
c.3473C>G (p.Pro1158Arg)
c.3440C>G (p.Pro1147Arg)
c.3383C>G (p.Pro1128Arg)
c.3482C>G (p.Pro1161Arg)
c.3458C>G (p.Pro1153Arg)
c.3293C>G (p.Pro1098Arg)
1g.16986094G>TCA338230724ATP13A2c.*127C>A (n.*127C>A)
c.3368C>A (p.Pro1123His)
n.1716C>A
c.1088C>A (p.Pro363His)
c.3500C>A (p.Pro1167His)
c.3497C>A (p.Pro1166His)
c.3485C>A (p.Pro1162His)
c.3473C>A (p.Pro1158His)
c.3440C>A (p.Pro1147His)
c.3383C>A (p.Pro1128His)
c.3482C>A (p.Pro1161His)
c.3458C>A (p.Pro1153His)
c.3293C>A (p.Pro1098His)
1g.16986095G>ACA636424ATP13A2c.*126C>T (n.*126C>T)
c.3367C>T (p.Pro1123Ser)
n.1715C>T
c.1087C>T (p.Pro363Ser)
c.3499C>T (p.Pro1167Ser)
c.3496C>T (p.Pro1166Ser)
c.3484C>T (p.Pro1162Ser)
c.3472C>T (p.Pro1158Ser)
c.3439C>T (p.Pro1147Ser)
c.3382C>T (p.Pro1128Ser)
c.3481C>T (p.Pro1161Ser)
c.3457C>T (p.Pro1153Ser)
c.3292C>T (p.Pro1098Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986095G>CCA338230726ATP13A2c.*126C>G (n.*126C>G)
c.3367C>G (p.Pro1123Ala)
n.1715C>G
c.1087C>G (p.Pro363Ala)
c.3499C>G (p.Pro1167Ala)
c.3496C>G (p.Pro1166Ala)
c.3484C>G (p.Pro1162Ala)
c.3472C>G (p.Pro1158Ala)
c.3439C>G (p.Pro1147Ala)
c.3382C>G (p.Pro1128Ala)
c.3481C>G (p.Pro1161Ala)
c.3457C>G (p.Pro1153Ala)
c.3292C>G (p.Pro1098Ala)
1g.16986095G=CA1156048832ATP13A2c.*126C= (n.*126C=)
c.3367C= (p.Pro1123=)
n.1715C=
c.1087C= (p.Pro363=)
c.3499C= (p.Pro1167=)
c.3496C= (p.Pro1166=)
c.3484C= (p.Pro1162=)
c.3472C= (p.Pro1158=)
c.3439C= (p.Pro1147=)
c.3382C= (p.Pro1128=)
c.3481C= (p.Pro1161=)
c.3457C= (p.Pro1153=)
c.3292C= (p.Pro1098=)
1g.16986095G>TCA338230729ATP13A2c.*126C>A (n.*126C>A)
c.3367C>A (p.Pro1123Thr)
n.1715C>A
c.1087C>A (p.Pro363Thr)
c.3499C>A (p.Pro1167Thr)
c.3496C>A (p.Pro1166Thr)
c.3484C>A (p.Pro1162Thr)
c.3472C>A (p.Pro1158Thr)
c.3439C>A (p.Pro1147Thr)
c.3382C>A (p.Pro1128Thr)
c.3481C>A (p.Pro1161Thr)
c.3457C>A (p.Pro1153Thr)
c.3292C>A (p.Pro1098Thr)
 gnomAD v4
1g.16986096A>GCA2643667774ATP13A2c.*125T>C (n.*125T>C)
c.3366T>C (p.Pro1122=)
n.1714T>C
c.1086T>C (p.Pro362=)
c.3498T>C (p.Pro1166=)
c.3495T>C (p.Pro1165=)
c.3483T>C (p.Pro1161=)
c.3471T>C (p.Pro1157=)
c.3438T>C (p.Pro1146=)
c.3381T>C (p.Pro1127=)
c.3480T>C (p.Pro1160=)
c.3456T>C (p.Pro1152=)
c.3291T>C (p.Pro1097=)
 gnomAD v4
1g.16986097G>ACA636425ATP13A2c.*124C>T (n.*124C>T)
c.3365C>T (p.Pro1122Leu)
n.1713C>T
c.1085C>T (p.Pro362Leu)
c.3497C>T (p.Pro1166Leu)
c.3494C>T (p.Pro1165Leu)
c.3482C>T (p.Pro1161Leu)
c.3470C>T (p.Pro1157Leu)
c.3437C>T (p.Pro1146Leu)
c.3380C>T (p.Pro1127Leu)
c.3479C>T (p.Pro1160Leu)
c.3455C>T (p.Pro1152Leu)
c.3290C>T (p.Pro1097Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986097G>CCA338230732ATP13A2c.*124C>G (n.*124C>G)
c.3365C>G (p.Pro1122Arg)
n.1713C>G
c.1085C>G (p.Pro362Arg)
c.3497C>G (p.Pro1166Arg)
c.3494C>G (p.Pro1165Arg)
c.3482C>G (p.Pro1161Arg)
c.3470C>G (p.Pro1157Arg)
c.3437C>G (p.Pro1146Arg)
c.3380C>G (p.Pro1127Arg)
c.3479C>G (p.Pro1160Arg)
c.3455C>G (p.Pro1152Arg)
c.3290C>G (p.Pro1097Arg)
1g.16986097G=CA1139774218ATP13A2c.*124C= (n.*124C=)
c.3365C= (p.Pro1122=)
n.1713C=
c.1085C= (p.Pro362=)
c.3497C= (p.Pro1166=)
c.3494C= (p.Pro1165=)
c.3482C= (p.Pro1161=)
c.3470C= (p.Pro1157=)
c.3437C= (p.Pro1146=)
c.3380C= (p.Pro1127=)
c.3479C= (p.Pro1160=)
c.3455C= (p.Pro1152=)
c.3290C= (p.Pro1097=)
1g.16986097G>TCA338230734ATP13A2c.*124C>A (n.*124C>A)
c.3365C>A (p.Pro1122His)
n.1713C>A
c.1085C>A (p.Pro362His)
c.3497C>A (p.Pro1166His)
c.3494C>A (p.Pro1165His)
c.3482C>A (p.Pro1161His)
c.3470C>A (p.Pro1157His)
c.3437C>A (p.Pro1146His)
c.3380C>A (p.Pro1127His)
c.3479C>A (p.Pro1160His)
c.3455C>A (p.Pro1152His)
c.3290C>A (p.Pro1097His)
1g.16986098G>ACA338230740ATP13A2c.*123C>T (n.*123C>T)
c.3364C>T (p.Pro1122Ser)
n.1712C>T
c.1084C>T (p.Pro362Ser)
c.3496C>T (p.Pro1166Ser)
c.3493C>T (p.Pro1165Ser)
c.3481C>T (p.Pro1161Ser)
c.3469C>T (p.Pro1157Ser)
c.3436C>T (p.Pro1146Ser)
c.3379C>T (p.Pro1127Ser)
c.3478C>T (p.Pro1160Ser)
c.3454C>T (p.Pro1152Ser)
c.3289C>T (p.Pro1097Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.16986098G>CCA338230738ATP13A2c.*123C>G (n.*123C>G)
c.3364C>G (p.Pro1122Ala)
n.1712C>G
c.1084C>G (p.Pro362Ala)
c.3496C>G (p.Pro1166Ala)
c.3493C>G (p.Pro1165Ala)
c.3481C>G (p.Pro1161Ala)
c.3469C>G (p.Pro1157Ala)
c.3436C>G (p.Pro1146Ala)
c.3379C>G (p.Pro1127Ala)
c.3478C>G (p.Pro1160Ala)
c.3454C>G (p.Pro1152Ala)
c.3289C>G (p.Pro1097Ala)
1g.16986098G=CA1156048843ATP13A2c.*123C= (n.*123C=)
c.3364C= (p.Pro1122=)
n.1712C=
c.1084C= (p.Pro362=)
c.3496C= (p.Pro1166=)
c.3493C= (p.Pro1165=)
c.3481C= (p.Pro1161=)
c.3469C= (p.Pro1157=)
c.3436C= (p.Pro1146=)
c.3379C= (p.Pro1127=)
c.3478C= (p.Pro1160=)
c.3454C= (p.Pro1152=)
c.3289C= (p.Pro1097=)
1g.16986098G>TCA338230737ATP13A2c.*123C>A (n.*123C>A)
c.3364C>A (p.Pro1122Thr)
n.1712C>A
c.1084C>A (p.Pro362Thr)
c.3496C>A (p.Pro1166Thr)
c.3493C>A (p.Pro1165Thr)
c.3481C>A (p.Pro1161Thr)
c.3469C>A (p.Pro1157Thr)
c.3436C>A (p.Pro1146Thr)
c.3379C>A (p.Pro1127Thr)
c.3478C>A (p.Pro1160Thr)
c.3454C>A (p.Pro1152Thr)
c.3289C>A (p.Pro1097Thr)
 gnomAD v4
1g.16986099A>TCA2643667792ATP13A2c.*122T>A (n.*122T>A)
c.3363T>A (p.Thr1121=)
n.1711T>A
c.1083T>A (p.Thr361=)
c.3495T>A (p.Thr1165=)
c.3492T>A (p.Thr1164=)
c.3480T>A (p.Thr1160=)
c.3468T>A (p.Thr1156=)
c.3435T>A (p.Thr1145=)
c.3378T>A (p.Thr1126=)
c.3477T>A (p.Thr1159=)
c.3453T>A (p.Thr1151=)
c.3288T>A (p.Thr1096=)
 gnomAD v4
1g.16986100G>ACA338230742ATP13A2c.*121C>T (n.*121C>T)
c.3362C>T (p.Thr1121Ile)
n.1710C>T
c.1082C>T (p.Thr361Ile)
c.3494C>T (p.Thr1165Ile)
c.3491C>T (p.Thr1164Ile)
c.3479C>T (p.Thr1160Ile)
c.3467C>T (p.Thr1156Ile)
c.3434C>T (p.Thr1145Ile)
c.3377C>T (p.Thr1126Ile)
c.3476C>T (p.Thr1159Ile)
c.3452C>T (p.Thr1151Ile)
c.3287C>T (p.Thr1096Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.16986100G>CCA338230744ATP13A2c.*121C>G (n.*121C>G)
c.3362C>G (p.Thr1121Ser)
n.1710C>G
c.1082C>G (p.Thr361Ser)
c.3494C>G (p.Thr1165Ser)
c.3491C>G (p.Thr1164Ser)
c.3479C>G (p.Thr1160Ser)
c.3467C>G (p.Thr1156Ser)
c.3434C>G (p.Thr1145Ser)
c.3377C>G (p.Thr1126Ser)
c.3476C>G (p.Thr1159Ser)
c.3452C>G (p.Thr1151Ser)
c.3287C>G (p.Thr1096Ser)
1g.16986100G=CA1156048851ATP13A2c.*121C= (n.*121C=)
c.3362C= (p.Thr1121=)
n.1710C=
c.1082C= (p.Thr361=)
c.3494C= (p.Thr1165=)
c.3491C= (p.Thr1164=)
c.3479C= (p.Thr1160=)
c.3467C= (p.Thr1156=)
c.3434C= (p.Thr1145=)
c.3377C= (p.Thr1126=)
c.3476C= (p.Thr1159=)
c.3452C= (p.Thr1151=)
c.3287C= (p.Thr1096=)
1g.16986100G>TCA636426ATP13A2c.*121C>A (n.*121C>A)
c.3362C>A (p.Thr1121Asn)
n.1710C>A
c.1082C>A (p.Thr361Asn)
c.3494C>A (p.Thr1165Asn)
c.3491C>A (p.Thr1164Asn)
c.3479C>A (p.Thr1160Asn)
c.3467C>A (p.Thr1156Asn)
c.3434C>A (p.Thr1145Asn)
c.3377C>A (p.Thr1126Asn)
c.3476C>A (p.Thr1159Asn)
c.3452C>A (p.Thr1151Asn)
c.3287C>A (p.Thr1096Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986101T>ACA636427ATP13A2c.*120A>T (n.*120A>T)
c.3361A>T (p.Thr1121Ser)
n.1709A>T
c.1081A>T (p.Thr361Ser)
c.3493A>T (p.Thr1165Ser)
c.3490A>T (p.Thr1164Ser)
c.3478A>T (p.Thr1160Ser)
c.3466A>T (p.Thr1156Ser)
c.3433A>T (p.Thr1145Ser)
c.3376A>T (p.Thr1126Ser)
c.3475A>T (p.Thr1159Ser)
c.3451A>T (p.Thr1151Ser)
c.3286A>T (p.Thr1096Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986101T>CCA338230748ATP13A2c.*120A>G (n.*120A>G)
c.3361A>G (p.Thr1121Ala)
n.1709A>G
c.1081A>G (p.Thr361Ala)
c.3493A>G (p.Thr1165Ala)
c.3490A>G (p.Thr1164Ala)
c.3478A>G (p.Thr1160Ala)
c.3466A>G (p.Thr1156Ala)
c.3433A>G (p.Thr1145Ala)
c.3376A>G (p.Thr1126Ala)
c.3475A>G (p.Thr1159Ala)
c.3451A>G (p.Thr1151Ala)
c.3286A>G (p.Thr1096Ala)
 gnomAD v4
1g.16986101T>GCA338230750ATP13A2c.*120A>C (n.*120A>C)
c.3361A>C (p.Thr1121Pro)
n.1709A>C
c.1081A>C (p.Thr361Pro)
c.3493A>C (p.Thr1165Pro)
c.3490A>C (p.Thr1164Pro)
c.3478A>C (p.Thr1160Pro)
c.3466A>C (p.Thr1156Pro)
c.3433A>C (p.Thr1145Pro)
c.3376A>C (p.Thr1126Pro)
c.3475A>C (p.Thr1159Pro)
c.3451A>C (p.Thr1151Pro)
c.3286A>C (p.Thr1096Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986101T=CA1140610299ATP13A2c.*120A= (n.*120A=)
c.3361A= (p.Thr1121=)
n.1709A=
c.1081A= (p.Thr361=)
c.3493A= (p.Thr1165=)
c.3490A= (p.Thr1164=)
c.3478A= (p.Thr1160=)
c.3466A= (p.Thr1156=)
c.3433A= (p.Thr1145=)
c.3376A= (p.Thr1126=)
c.3475A= (p.Thr1159=)
c.3451A= (p.Thr1151=)
c.3286A= (p.Thr1096=)
1g.16986102G>ACA636428ATP13A2c.*119C>T (n.*119C>T)
c.3360C>T (p.Tyr1120=)
n.1708C>T
c.1080C>T (p.Tyr360=)
c.3492C>T (p.Tyr1164=)
c.3489C>T (p.Tyr1163=)
c.3477C>T (p.Tyr1159=)
c.3465C>T (p.Tyr1155=)
c.3432C>T (p.Tyr1144=)
c.3375C>T (p.Tyr1125=)
c.3474C>T (p.Tyr1158=)
c.3450C>T (p.Tyr1150=)
c.3285C>T (p.Tyr1095=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986102G>CCA338230753ATP13A2c.*119C>G (n.*119C>G)
c.3360C>G (p.Tyr1120Ter)
n.1708C>G
c.1080C>G (p.Tyr360Ter)
c.3492C>G (p.Tyr1164Ter)
c.3489C>G (p.Tyr1163Ter)
c.3477C>G (p.Tyr1159Ter)
c.3465C>G (p.Tyr1155Ter)
c.3432C>G (p.Tyr1144Ter)
c.3375C>G (p.Tyr1125Ter)
c.3474C>G (p.Tyr1158Ter)
c.3450C>G (p.Tyr1150Ter)
c.3285C>G (p.Tyr1095Ter)
 dbSNP gnomAD v4
1g.16986102G=CA1156048862ATP13A2c.*119C= (n.*119C=)
c.3360C= (p.Tyr1120=)
n.1708C=
c.1080C= (p.Tyr360=)
c.3492C= (p.Tyr1164=)
c.3489C= (p.Tyr1163=)
c.3477C= (p.Tyr1159=)
c.3465C= (p.Tyr1155=)
c.3432C= (p.Tyr1144=)
c.3375C= (p.Tyr1125=)
c.3474C= (p.Tyr1158=)
c.3450C= (p.Tyr1150=)
c.3285C= (p.Tyr1095=)
1g.16986102G>TCA338230755ATP13A2c.*119C>A (n.*119C>A)
c.3360C>A (p.Tyr1120Ter)
n.1708C>A
c.1080C>A (p.Tyr360Ter)
c.3492C>A (p.Tyr1164Ter)
c.3489C>A (p.Tyr1163Ter)
c.3477C>A (p.Tyr1159Ter)
c.3465C>A (p.Tyr1155Ter)
c.3432C>A (p.Tyr1144Ter)
c.3375C>A (p.Tyr1125Ter)
c.3474C>A (p.Tyr1158Ter)
c.3450C>A (p.Tyr1150Ter)
c.3285C>A (p.Tyr1095Ter)
1g.16986103T>ACA338230758ATP13A2c.*118A>T (n.*118A>T)
c.3359A>T (p.Tyr1120Phe)
n.1707A>T
c.1079A>T (p.Tyr360Phe)
c.3491A>T (p.Tyr1164Phe)
c.3488A>T (p.Tyr1163Phe)
c.3476A>T (p.Tyr1159Phe)
c.3464A>T (p.Tyr1155Phe)
c.3431A>T (p.Tyr1144Phe)
c.3374A>T (p.Tyr1125Phe)
c.3473A>T (p.Tyr1158Phe)
c.3449A>T (p.Tyr1150Phe)
c.3284A>T (p.Tyr1095Phe)
1g.16986103T>CCA338230759ATP13A2c.*118A>G (n.*118A>G)
c.3359A>G (p.Tyr1120Cys)
n.1707A>G
c.1079A>G (p.Tyr360Cys)
c.3491A>G (p.Tyr1164Cys)
c.3488A>G (p.Tyr1163Cys)
c.3476A>G (p.Tyr1159Cys)
c.3464A>G (p.Tyr1155Cys)
c.3431A>G (p.Tyr1144Cys)
c.3374A>G (p.Tyr1125Cys)
c.3473A>G (p.Tyr1158Cys)
c.3449A>G (p.Tyr1150Cys)
c.3284A>G (p.Tyr1095Cys)
 gnomAD v4
1g.16986103T>GCA338230761ATP13A2c.*118A>C (n.*118A>C)
c.3359A>C (p.Tyr1120Ser)
n.1707A>C
c.1079A>C (p.Tyr360Ser)
c.3491A>C (p.Tyr1164Ser)
c.3488A>C (p.Tyr1163Ser)
c.3476A>C (p.Tyr1159Ser)
c.3464A>C (p.Tyr1155Ser)
c.3431A>C (p.Tyr1144Ser)
c.3374A>C (p.Tyr1125Ser)
c.3473A>C (p.Tyr1158Ser)
c.3449A>C (p.Tyr1150Ser)
c.3284A>C (p.Tyr1095Ser)
1g.16986104A>CCA338230764ATP13A2c.*117T>G (n.*117T>G)
c.3358T>G (p.Tyr1120Asp)
n.1706T>G
c.1078T>G (p.Tyr360Asp)
c.3490T>G (p.Tyr1164Asp)
c.3487T>G (p.Tyr1163Asp)
c.3475T>G (p.Tyr1159Asp)
c.3463T>G (p.Tyr1155Asp)
c.3430T>G (p.Tyr1144Asp)
c.3373T>G (p.Tyr1125Asp)
c.3472T>G (p.Tyr1158Asp)
c.3448T>G (p.Tyr1150Asp)
c.3283T>G (p.Tyr1095Asp)
1g.16986104A>GCA338230767ATP13A2c.*117T>C (n.*117T>C)
c.3358T>C (p.Tyr1120His)
n.1706T>C
c.1078T>C (p.Tyr360His)
c.3490T>C (p.Tyr1164His)
c.3487T>C (p.Tyr1163His)
c.3475T>C (p.Tyr1159His)
c.3463T>C (p.Tyr1155His)
c.3430T>C (p.Tyr1144His)
c.3373T>C (p.Tyr1125His)
c.3472T>C (p.Tyr1158His)
c.3448T>C (p.Tyr1150His)
c.3283T>C (p.Tyr1095His)
 gnomAD v4
1g.16986104A>TCA338230762ATP13A2c.*117T>A (n.*117T>A)
c.3358T>A (p.Tyr1120Asn)
n.1706T>A
c.1078T>A (p.Tyr360Asn)
c.3490T>A (p.Tyr1164Asn)
c.3487T>A (p.Tyr1163Asn)
c.3475T>A (p.Tyr1159Asn)
c.3463T>A (p.Tyr1155Asn)
c.3430T>A (p.Tyr1144Asn)
c.3373T>A (p.Tyr1125Asn)
c.3472T>A (p.Tyr1158Asn)
c.3448T>A (p.Tyr1150Asn)
c.3283T>A (p.Tyr1095Asn)
1g.16986105G>ACA521027706ATP13A2c.*116C>T (n.*116C>T)
c.3357C>T (p.Val1119=)
n.1705C>T
c.1077C>T (p.Val359=)
c.3489C>T (p.Val1163=)
c.3486C>T (p.Val1162=)
c.3474C>T (p.Val1158=)
c.3462C>T (p.Val1154=)
c.3429C>T (p.Val1143=)
c.3372C>T (p.Val1124=)
c.3471C>T (p.Val1157=)
c.3447C>T (p.Val1149=)
c.3282C>T (p.Val1094=)
 dbSNP gnomAD v2 gnomAD v4
1g.16986105G=CA1156048867ATP13A2c.*116C= (n.*116C=)
c.3357C= (p.Val1119=)
n.1705C=
c.1077C= (p.Val359=)
c.3489C= (p.Val1163=)
c.3486C= (p.Val1162=)
c.3474C= (p.Val1158=)
c.3462C= (p.Val1154=)
c.3429C= (p.Val1143=)
c.3372C= (p.Val1124=)
c.3471C= (p.Val1157=)
c.3447C= (p.Val1149=)
c.3282C= (p.Val1094=)
1g.16986106A>CCA338230770ATP13A2c.*115T>G (n.*115T>G)
c.3356T>G (p.Val1119Gly)
n.1704T>G
c.1076T>G (p.Val359Gly)
c.3488T>G (p.Val1163Gly)
c.3485T>G (p.Val1162Gly)
c.3473T>G (p.Val1158Gly)
c.3461T>G (p.Val1154Gly)
c.3428T>G (p.Val1143Gly)
c.3371T>G (p.Val1124Gly)
c.3470T>G (p.Val1157Gly)
c.3446T>G (p.Val1149Gly)
c.3281T>G (p.Val1094Gly)
1g.16986106A>GCA338230772ATP13A2c.*115T>C (n.*115T>C)
c.3356T>C (p.Val1119Ala)
n.1704T>C
c.1076T>C (p.Val359Ala)
c.3488T>C (p.Val1163Ala)
c.3485T>C (p.Val1162Ala)
c.3473T>C (p.Val1158Ala)
c.3461T>C (p.Val1154Ala)
c.3428T>C (p.Val1143Ala)
c.3371T>C (p.Val1124Ala)
c.3470T>C (p.Val1157Ala)
c.3446T>C (p.Val1149Ala)
c.3281T>C (p.Val1094Ala)
1g.16986106A>TCA338230774ATP13A2c.*115T>A (n.*115T>A)
c.3356T>A (p.Val1119Asp)
n.1704T>A
c.1076T>A (p.Val359Asp)
c.3488T>A (p.Val1163Asp)
c.3485T>A (p.Val1162Asp)
c.3473T>A (p.Val1158Asp)
c.3461T>A (p.Val1154Asp)
c.3428T>A (p.Val1143Asp)
c.3371T>A (p.Val1124Asp)
c.3470T>A (p.Val1157Asp)
c.3446T>A (p.Val1149Asp)
c.3281T>A (p.Val1094Asp)
 gnomAD v4
1g.16986107C>ACA338230776ATP13A2c.*114G>T (n.*114G>T)
c.3355G>T (p.Val1119Phe)
n.1703G>T
c.1075G>T (p.Val359Phe)
c.3487G>T (p.Val1163Phe)
c.3484G>T (p.Val1162Phe)
c.3472G>T (p.Val1158Phe)
c.3460G>T (p.Val1154Phe)
c.3427G>T (p.Val1143Phe)
c.3370G>T (p.Val1124Phe)
c.3469G>T (p.Val1157Phe)
c.3445G>T (p.Val1149Phe)
c.3280G>T (p.Val1094Phe)
1g.16986107C>GCA338230778ATP13A2c.*114G>C (n.*114G>C)
c.3355G>C (p.Val1119Leu)
n.1703G>C
c.1075G>C (p.Val359Leu)
c.3487G>C (p.Val1163Leu)
c.3484G>C (p.Val1162Leu)
c.3472G>C (p.Val1158Leu)
c.3460G>C (p.Val1154Leu)
c.3427G>C (p.Val1143Leu)
c.3370G>C (p.Val1124Leu)
c.3469G>C (p.Val1157Leu)
c.3445G>C (p.Val1149Leu)
c.3280G>C (p.Val1094Leu)
1g.16986107C>TCA338230781ATP13A2c.*114G>A (n.*114G>A)
c.3355G>A (p.Val1119Ile)
n.1703G>A
c.1075G>A (p.Val359Ile)
c.3487G>A (p.Val1163Ile)
c.3484G>A (p.Val1162Ile)
c.3472G>A (p.Val1158Ile)
c.3460G>A (p.Val1154Ile)
c.3427G>A (p.Val1143Ile)
c.3370G>A (p.Val1124Ile)
c.3469G>A (p.Val1157Ile)
c.3445G>A (p.Val1149Ile)
c.3280G>A (p.Val1094Ile)
 gnomAD v3 gnomAD v4
1g.16986108A=CA1156048868ATP13A2c.*113T= (n.*113T=)
c.3354T= (p.Thr1118=)
n.1702T=
c.1074T= (p.Thr358=)
c.3486T= (p.Thr1162=)
c.3483T= (p.Thr1161=)
c.3471T= (p.Thr1157=)
c.3459T= (p.Thr1153=)
c.3426T= (p.Thr1142=)
c.3369T= (p.Thr1123=)
c.3468T= (p.Thr1156=)
c.3444T= (p.Thr1148=)
c.3279T= (p.Thr1093=)
1g.16986108A>GCA636429ATP13A2c.*113T>C (n.*113T>C)
c.3354T>C (p.Thr1118=)
n.1702T>C
c.1074T>C (p.Thr358=)
c.3486T>C (p.Thr1162=)
c.3483T>C (p.Thr1161=)
c.3471T>C (p.Thr1157=)
c.3459T>C (p.Thr1153=)
c.3426T>C (p.Thr1142=)
c.3369T>C (p.Thr1123=)
c.3468T>C (p.Thr1156=)
c.3444T>C (p.Thr1148=)
c.3279T>C (p.Thr1093=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986109G>ACA338230785ATP13A2c.*112C>T (n.*112C>T)
c.3353C>T (p.Thr1118Ile)
n.1701C>T
c.1073C>T (p.Thr358Ile)
c.3485C>T (p.Thr1162Ile)
c.3482C>T (p.Thr1161Ile)
c.3470C>T (p.Thr1157Ile)
c.3458C>T (p.Thr1153Ile)
c.3425C>T (p.Thr1142Ile)
c.3368C>T (p.Thr1123Ile)
c.3467C>T (p.Thr1156Ile)
c.3443C>T (p.Thr1148Ile)
c.3278C>T (p.Thr1093Ile)
1g.16986109G>CCA338230787ATP13A2c.*112C>G (n.*112C>G)
c.3353C>G (p.Thr1118Ser)
n.1701C>G
c.1073C>G (p.Thr358Ser)
c.3485C>G (p.Thr1162Ser)
c.3482C>G (p.Thr1161Ser)
c.3470C>G (p.Thr1157Ser)
c.3458C>G (p.Thr1153Ser)
c.3425C>G (p.Thr1142Ser)
c.3368C>G (p.Thr1123Ser)
c.3467C>G (p.Thr1156Ser)
c.3443C>G (p.Thr1148Ser)
c.3278C>G (p.Thr1093Ser)
1g.16986109G>TCA338230793ATP13A2c.*112C>A (n.*112C>A)
c.3353C>A (p.Thr1118Asn)
n.1701C>A
c.1073C>A (p.Thr358Asn)
c.3485C>A (p.Thr1162Asn)
c.3482C>A (p.Thr1161Asn)
c.3470C>A (p.Thr1157Asn)
c.3458C>A (p.Thr1153Asn)
c.3425C>A (p.Thr1142Asn)
c.3368C>A (p.Thr1123Asn)
c.3467C>A (p.Thr1156Asn)
c.3443C>A (p.Thr1148Asn)
c.3278C>A (p.Thr1093Asn)
1g.16986110T>ACA338230795ATP13A2c.*111A>T (n.*111A>T)
c.3352A>T (p.Thr1118Ser)
n.1700A>T
c.1072A>T (p.Thr358Ser)
c.3484A>T (p.Thr1162Ser)
c.3481A>T (p.Thr1161Ser)
c.3469A>T (p.Thr1157Ser)
c.3457A>T (p.Thr1153Ser)
c.3424A>T (p.Thr1142Ser)
c.3367A>T (p.Thr1123Ser)
c.3466A>T (p.Thr1156Ser)
c.3442A>T (p.Thr1148Ser)
c.3277A>T (p.Thr1093Ser)
1g.16986110T>CCA338230802ATP13A2c.*111A>G (n.*111A>G)
c.3352A>G (p.Thr1118Ala)
n.1700A>G
c.1072A>G (p.Thr358Ala)
c.3484A>G (p.Thr1162Ala)
c.3481A>G (p.Thr1161Ala)
c.3469A>G (p.Thr1157Ala)
c.3457A>G (p.Thr1153Ala)
c.3424A>G (p.Thr1142Ala)
c.3367A>G (p.Thr1123Ala)
c.3466A>G (p.Thr1156Ala)
c.3442A>G (p.Thr1148Ala)
c.3277A>G (p.Thr1093Ala)
1g.16986110T>GCA338230803ATP13A2c.*111A>C (n.*111A>C)
c.3352A>C (p.Thr1118Pro)
n.1700A>C
c.1072A>C (p.Thr358Pro)
c.3484A>C (p.Thr1162Pro)
c.3481A>C (p.Thr1161Pro)
c.3469A>C (p.Thr1157Pro)
c.3457A>C (p.Thr1153Pro)
c.3424A>C (p.Thr1142Pro)
c.3367A>C (p.Thr1123Pro)
c.3466A>C (p.Thr1156Pro)
c.3442A>C (p.Thr1148Pro)
c.3277A>C (p.Thr1093Pro)
1g.16986111C=CA1156048871ATP13A2c.*110G= (n.*110G=)
c.3351G= (p.Ala1117=)
n.1699G=
c.1071G= (p.Ala357=)
c.3483G= (p.Ala1161=)
c.3480G= (p.Ala1160=)
c.3468G= (p.Ala1156=)
c.3456G= (p.Ala1152=)
c.3423G= (p.Ala1141=)
c.3366G= (p.Ala1122=)
c.3465G= (p.Ala1155=)
c.3441G= (p.Ala1147=)
c.3276G= (p.Ala1092=)
1g.16986111C>TCA521027708ATP13A2c.*110G>A (n.*110G>A)
c.3351G>A (p.Ala1117=)
n.1699G>A
c.1071G>A (p.Ala357=)
c.3483G>A (p.Ala1161=)
c.3480G>A (p.Ala1160=)
c.3468G>A (p.Ala1156=)
c.3456G>A (p.Ala1152=)
c.3423G>A (p.Ala1141=)
c.3366G>A (p.Ala1122=)
c.3465G>A (p.Ala1155=)
c.3441G>A (p.Ala1147=)
c.3276G>A (p.Ala1092=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986112G>ACA636430ATP13A2c.*109C>T (n.*109C>T)
c.3350C>T (p.Ala1117Val)
n.1698C>T
c.1070C>T (p.Ala357Val)
c.3482C>T (p.Ala1161Val)
c.3479C>T (p.Ala1160Val)
c.3467C>T (p.Ala1156Val)
c.3455C>T (p.Ala1152Val)
c.3422C>T (p.Ala1141Val)
c.3365C>T (p.Ala1122Val)
c.3464C>T (p.Ala1155Val)
c.3440C>T (p.Ala1147Val)
c.3275C>T (p.Ala1092Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986112G>CCA338230805ATP13A2c.*109C>G (n.*109C>G)
c.3350C>G (p.Ala1117Gly)
n.1698C>G
c.1070C>G (p.Ala357Gly)
c.3482C>G (p.Ala1161Gly)
c.3479C>G (p.Ala1160Gly)
c.3467C>G (p.Ala1156Gly)
c.3455C>G (p.Ala1152Gly)
c.3422C>G (p.Ala1141Gly)
c.3365C>G (p.Ala1122Gly)
c.3464C>G (p.Ala1155Gly)
c.3440C>G (p.Ala1147Gly)
c.3275C>G (p.Ala1092Gly)
 gnomAD v4
1g.16986112G=CA1148430764ATP13A2c.*109C= (n.*109C=)
c.3350C= (p.Ala1117=)
n.1698C=
c.1070C= (p.Ala357=)
c.3482C= (p.Ala1161=)
c.3479C= (p.Ala1160=)
c.3467C= (p.Ala1156=)
c.3455C= (p.Ala1152=)
c.3422C= (p.Ala1141=)
c.3365C= (p.Ala1122=)
c.3464C= (p.Ala1155=)
c.3440C= (p.Ala1147=)
c.3275C= (p.Ala1092=)
1g.16986112G>TCA338230804ATP13A2c.*109C>A (n.*109C>A)
c.3350C>A (p.Ala1117Glu)
n.1698C>A
c.1070C>A (p.Ala357Glu)
c.3482C>A (p.Ala1161Glu)
c.3479C>A (p.Ala1160Glu)
c.3467C>A (p.Ala1156Glu)
c.3455C>A (p.Ala1152Glu)
c.3422C>A (p.Ala1141Glu)
c.3365C>A (p.Ala1122Glu)
c.3464C>A (p.Ala1155Glu)
c.3440C>A (p.Ala1147Glu)
c.3275C>A (p.Ala1092Glu)
 gnomAD v4
1g.16986113C>ACA338231181ATP13A2c.*108G>T (n.*108G>T)
c.3349G>T (p.Ala1117Ser)
n.1697G>T
c.1069G>T (p.Ala357Ser)
c.3481G>T (p.Ala1161Ser)
c.3478G>T (p.Ala1160Ser)
c.3466G>T (p.Ala1156Ser)
c.3454G>T (p.Ala1152Ser)
c.3421G>T (p.Ala1141Ser)
c.3364G>T (p.Ala1122Ser)
c.3463G>T (p.Ala1155Ser)
c.3439G>T (p.Ala1147Ser)
c.3274G>T (p.Ala1092Ser)
1g.16986113C>GCA338231182ATP13A2c.*108G>C (n.*108G>C)
c.3349G>C (p.Ala1117Pro)
n.1697G>C
c.1069G>C (p.Ala357Pro)
c.3481G>C (p.Ala1161Pro)
c.3478G>C (p.Ala1160Pro)
c.3466G>C (p.Ala1156Pro)
c.3454G>C (p.Ala1152Pro)
c.3421G>C (p.Ala1141Pro)
c.3364G>C (p.Ala1122Pro)
c.3463G>C (p.Ala1155Pro)
c.3439G>C (p.Ala1147Pro)
c.3274G>C (p.Ala1092Pro)
1g.16986113C>TCA338231185ATP13A2c.*108G>A (n.*108G>A)
c.3349G>A (p.Ala1117Thr)
n.1697G>A
c.1069G>A (p.Ala357Thr)
c.3481G>A (p.Ala1161Thr)
c.3478G>A (p.Ala1160Thr)
c.3466G>A (p.Ala1156Thr)
c.3454G>A (p.Ala1152Thr)
c.3421G>A (p.Ala1141Thr)
c.3364G>A (p.Ala1122Thr)
c.3463G>A (p.Ala1155Thr)
c.3439G>A (p.Ala1147Thr)
c.3274G>A (p.Ala1092Thr)
1g.16986114C>ACA338231187ATP13A2c.*107G>T (n.*107G>T)
c.3348G>T (p.Leu1116Phe)
n.1696G>T
c.1068G>T (p.Leu356Phe)
c.3480G>T (p.Leu1160Phe)
c.3477G>T (p.Leu1159Phe)
c.3465G>T (p.Leu1155Phe)
c.3453G>T (p.Leu1151Phe)
c.3420G>T (p.Leu1140Phe)
c.3363G>T (p.Leu1121Phe)
c.3462G>T (p.Leu1154Phe)
c.3438G>T (p.Leu1146Phe)
c.3273G>T (p.Leu1091Phe)
1g.16986114C>GCA338231188ATP13A2c.*107G>C (n.*107G>C)
c.3348G>C (p.Leu1116Phe)
n.1696G>C
c.1068G>C (p.Leu356Phe)
c.3480G>C (p.Leu1160Phe)
c.3477G>C (p.Leu1159Phe)
c.3465G>C (p.Leu1155Phe)
c.3453G>C (p.Leu1151Phe)
c.3420G>C (p.Leu1140Phe)
c.3363G>C (p.Leu1121Phe)
c.3462G>C (p.Leu1154Phe)
c.3438G>C (p.Leu1146Phe)
c.3273G>C (p.Leu1091Phe)
1g.16986115A>CCA338231205ATP13A2c.*106T>G (n.*106T>G)
c.3347T>G (p.Leu1116Trp)
n.1695T>G
c.1067T>G (p.Leu356Trp)
c.3479T>G (p.Leu1160Trp)
c.3476T>G (p.Leu1159Trp)
c.3464T>G (p.Leu1155Trp)
c.3452T>G (p.Leu1151Trp)
c.3419T>G (p.Leu1140Trp)
c.3362T>G (p.Leu1121Trp)
c.3461T>G (p.Leu1154Trp)
c.3437T>G (p.Leu1146Trp)
c.3272T>G (p.Leu1091Trp)
1g.16986115A>GCA338231206ATP13A2c.*106T>C (n.*106T>C)
c.3347T>C (p.Leu1116Ser)
n.1695T>C
c.1067T>C (p.Leu356Ser)
c.3479T>C (p.Leu1160Ser)
c.3476T>C (p.Leu1159Ser)
c.3464T>C (p.Leu1155Ser)
c.3452T>C (p.Leu1151Ser)
c.3419T>C (p.Leu1140Ser)
c.3362T>C (p.Leu1121Ser)
c.3461T>C (p.Leu1154Ser)
c.3437T>C (p.Leu1146Ser)
c.3272T>C (p.Leu1091Ser)
1g.16986115A>TCA338231207ATP13A2c.*106T>A (n.*106T>A)
c.3347T>A (p.Leu1116Ter)
n.1695T>A
c.1067T>A (p.Leu356Ter)
c.3479T>A (p.Leu1160Ter)
c.3476T>A (p.Leu1159Ter)
c.3464T>A (p.Leu1155Ter)
c.3452T>A (p.Leu1151Ter)
c.3419T>A (p.Leu1140Ter)
c.3362T>A (p.Leu1121Ter)
c.3461T>A (p.Leu1154Ter)
c.3437T>A (p.Leu1146Ter)
c.3272T>A (p.Leu1091Ter)
1g.16986116A>CCA338231208ATP13A2c.*105T>G (n.*105T>G)
c.3346T>G (p.Leu1116Val)
n.1694T>G
c.1066T>G (p.Leu356Val)
c.3478T>G (p.Leu1160Val)
c.3475T>G (p.Leu1159Val)
c.3463T>G (p.Leu1155Val)
c.3451T>G (p.Leu1151Val)
c.3418T>G (p.Leu1140Val)
c.3361T>G (p.Leu1121Val)
c.3460T>G (p.Leu1154Val)
c.3436T>G (p.Leu1146Val)
c.3271T>G (p.Leu1091Val)
1g.16986116A>GCA2742638023ATP13A2c.*105T>C (n.*105T>C)
c.3346T>C (p.Leu1116=)
n.1694T>C
c.1066T>C (p.Leu356=)
c.3478T>C (p.Leu1160=)
c.3475T>C (p.Leu1159=)
c.3463T>C (p.Leu1155=)
c.3451T>C (p.Leu1151=)
c.3418T>C (p.Leu1140=)
c.3361T>C (p.Leu1121=)
c.3460T>C (p.Leu1154=)
c.3436T>C (p.Leu1146=)
c.3271T>C (p.Leu1091=)
1g.16986116A>TCA338231209ATP13A2c.*105T>A (n.*105T>A)
c.3346T>A (p.Leu1116Met)
n.1694T>A
c.1066T>A (p.Leu356Met)
c.3478T>A (p.Leu1160Met)
c.3475T>A (p.Leu1159Met)
c.3463T>A (p.Leu1155Met)
c.3451T>A (p.Leu1151Met)
c.3418T>A (p.Leu1140Met)
c.3361T>A (p.Leu1121Met)
c.3460T>A (p.Leu1154Met)
c.3436T>A (p.Leu1146Met)
c.3271T>A (p.Leu1091Met)
1g.16986117C>ACA18624429ATP13A2c.*104G>T (n.*104G>T)
c.3345G>T (p.Arg1115Ser)
n.1693G>T
c.1065G>T (p.Arg355Ser)
c.3477G>T (p.Arg1159Ser)
c.3474G>T (p.Arg1158Ser)
c.3462G>T (p.Arg1154Ser)
c.3450G>T (p.Arg1150Ser)
c.3417G>T (p.Arg1139Ser)
c.3360G>T (p.Arg1120Ser)
c.3459G>T (p.Arg1153Ser)
c.3435G>T (p.Arg1145Ser)
c.3270G>T (p.Arg1090Ser)
 dbSNP gnomAD v4
1g.16986117C=CA1156048881ATP13A2c.*104G= (n.*104G=)
c.3345G= (p.Arg1115=)
n.1693G=
c.1065G= (p.Arg355=)
c.3477G= (p.Arg1159=)
c.3474G= (p.Arg1158=)
c.3462G= (p.Arg1154=)
c.3450G= (p.Arg1150=)
c.3417G= (p.Arg1139=)
c.3360G= (p.Arg1120=)
c.3459G= (p.Arg1153=)
c.3435G= (p.Arg1145=)
c.3270G= (p.Arg1090=)
1g.16986117C>GCA338231220ATP13A2c.*104G>C (n.*104G>C)
c.3345G>C (p.Arg1115Ser)
n.1693G>C
c.1065G>C (p.Arg355Ser)
c.3477G>C (p.Arg1159Ser)
c.3474G>C (p.Arg1158Ser)
c.3462G>C (p.Arg1154Ser)
c.3450G>C (p.Arg1150Ser)
c.3417G>C (p.Arg1139Ser)
c.3360G>C (p.Arg1120Ser)
c.3459G>C (p.Arg1153Ser)
c.3435G>C (p.Arg1145Ser)
c.3270G>C (p.Arg1090Ser)
1g.16986117C>TCA521449589ATP13A2c.*104G>A (n.*104G>A)
c.3345G>A (p.Arg1115=)
n.1693G>A
c.1065G>A (p.Arg355=)
c.3477G>A (p.Arg1159=)
c.3474G>A (p.Arg1158=)
c.3462G>A (p.Arg1154=)
c.3450G>A (p.Arg1150=)
c.3417G>A (p.Arg1139=)
c.3360G>A (p.Arg1120=)
c.3459G>A (p.Arg1153=)
c.3435G>A (p.Arg1145=)
c.3270G>A (p.Arg1090=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986118C>ACA338231224ATP13A2c.*103G>T (n.*103G>T)
c.3344G>T (p.Arg1115Met)
n.1692G>T
c.1064G>T (p.Arg355Met)
c.3476G>T (p.Arg1159Met)
c.3473G>T (p.Arg1158Met)
c.3461G>T (p.Arg1154Met)
c.3449G>T (p.Arg1150Met)
c.3416G>T (p.Arg1139Met)
c.3359G>T (p.Arg1120Met)
c.3458G>T (p.Arg1153Met)
c.3434G>T (p.Arg1145Met)
c.3269G>T (p.Arg1090Met)
1g.16986118C=CA1156048886ATP13A2c.*103G= (n.*103G=)
c.3344G= (p.Arg1115=)
n.1692G=
c.1064G= (p.Arg355=)
c.3476G= (p.Arg1159=)
c.3473G= (p.Arg1158=)
c.3461G= (p.Arg1154=)
c.3449G= (p.Arg1150=)
c.3416G= (p.Arg1139=)
c.3359G= (p.Arg1120=)
c.3458G= (p.Arg1153=)
c.3434G= (p.Arg1145=)
c.3269G= (p.Arg1090=)
1g.16986118C>GCA338231223ATP13A2c.*103G>C (n.*103G>C)
c.3344G>C (p.Arg1115Thr)
n.1692G>C
c.1064G>C (p.Arg355Thr)
c.3476G>C (p.Arg1159Thr)
c.3473G>C (p.Arg1158Thr)
c.3461G>C (p.Arg1154Thr)
c.3449G>C (p.Arg1150Thr)
c.3416G>C (p.Arg1139Thr)
c.3359G>C (p.Arg1120Thr)
c.3458G>C (p.Arg1153Thr)
c.3434G>C (p.Arg1145Thr)
c.3269G>C (p.Arg1090Thr)
1g.16986118C>TCA636431ATP13A2c.*103G>A (n.*103G>A)
c.3344G>A (p.Arg1115Lys)
n.1692G>A
c.1064G>A (p.Arg355Lys)
c.3476G>A (p.Arg1159Lys)
c.3473G>A (p.Arg1158Lys)
c.3461G>A (p.Arg1154Lys)
c.3449G>A (p.Arg1150Lys)
c.3416G>A (p.Arg1139Lys)
c.3359G>A (p.Arg1120Lys)
c.3458G>A (p.Arg1153Lys)
c.3434G>A (p.Arg1145Lys)
c.3269G>A (p.Arg1090Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986119T>ACA338231225ATP13A2c.*102A>T (n.*102A>T)
c.3343A>T (p.Arg1115Trp)
n.1691A>T
c.1063A>T (p.Arg355Trp)
c.3475A>T (p.Arg1159Trp)
c.3472A>T (p.Arg1158Trp)
c.3460A>T (p.Arg1154Trp)
c.3448A>T (p.Arg1150Trp)
c.3415A>T (p.Arg1139Trp)
c.3358A>T (p.Arg1120Trp)
c.3457A>T (p.Arg1153Trp)
c.3433A>T (p.Arg1145Trp)
c.3268A>T (p.Arg1090Trp)
1g.16986119T>CCA338231226ATP13A2c.*102A>G (n.*102A>G)
c.3343A>G (p.Arg1115Gly)
n.1691A>G
c.1063A>G (p.Arg355Gly)
c.3475A>G (p.Arg1159Gly)
c.3472A>G (p.Arg1158Gly)
c.3460A>G (p.Arg1154Gly)
c.3448A>G (p.Arg1150Gly)
c.3415A>G (p.Arg1139Gly)
c.3358A>G (p.Arg1120Gly)
c.3457A>G (p.Arg1153Gly)
c.3433A>G (p.Arg1145Gly)
c.3268A>G (p.Arg1090Gly)
1g.16986120C>TCA2643667877ATP13A2c.*101G>A (n.*101G>A)
c.3342G>A (p.Leu1114=)
n.1690G>A
c.1062G>A (p.Leu354=)
c.3474G>A (p.Leu1158=)
c.3471G>A (p.Leu1157=)
c.3459G>A (p.Leu1153=)
c.3447G>A (p.Leu1149=)
c.3414G>A (p.Leu1138=)
c.3357G>A (p.Leu1119=)
c.3456G>A (p.Leu1152=)
c.3432G>A (p.Leu1144=)
c.3267G>A (p.Leu1089=)
 gnomAD v4
1g.16986121A=CA1156048891ATP13A2c.*100T= (n.*100T=)
c.3341T= (p.Leu1114=)
n.1689T=
c.1061T= (p.Leu354=)
c.3473T= (p.Leu1158=)
c.3470T= (p.Leu1157=)
c.3458T= (p.Leu1153=)
c.3446T= (p.Leu1149=)
c.3413T= (p.Leu1138=)
c.3356T= (p.Leu1119=)
c.3455T= (p.Leu1152=)
c.3431T= (p.Leu1144=)
c.3266T= (p.Leu1089=)
1g.16986121A>CCA338231229ATP13A2c.*100T>G (n.*100T>G)
c.3341T>G (p.Leu1114Arg)
n.1689T>G
c.1061T>G (p.Leu354Arg)
c.3473T>G (p.Leu1158Arg)
c.3470T>G (p.Leu1157Arg)
c.3458T>G (p.Leu1153Arg)
c.3446T>G (p.Leu1149Arg)
c.3413T>G (p.Leu1138Arg)
c.3356T>G (p.Leu1119Arg)
c.3455T>G (p.Leu1152Arg)
c.3431T>G (p.Leu1144Arg)
c.3266T>G (p.Leu1089Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986121A>GCA338231231ATP13A2c.*100T>C (n.*100T>C)
c.3341T>C (p.Leu1114Pro)
n.1689T>C
c.1061T>C (p.Leu354Pro)
c.3473T>C (p.Leu1158Pro)
c.3470T>C (p.Leu1157Pro)
c.3458T>C (p.Leu1153Pro)
c.3446T>C (p.Leu1149Pro)
c.3413T>C (p.Leu1138Pro)
c.3356T>C (p.Leu1119Pro)
c.3455T>C (p.Leu1152Pro)
c.3431T>C (p.Leu1144Pro)
c.3266T>C (p.Leu1089Pro)
1g.16986121A>TCA338231232ATP13A2c.*100T>A (n.*100T>A)
c.3341T>A (p.Leu1114Gln)
n.1689T>A
c.1061T>A (p.Leu354Gln)
c.3473T>A (p.Leu1158Gln)
c.3470T>A (p.Leu1157Gln)
c.3458T>A (p.Leu1153Gln)
c.3446T>A (p.Leu1149Gln)
c.3413T>A (p.Leu1138Gln)
c.3356T>A (p.Leu1119Gln)
c.3455T>A (p.Leu1152Gln)
c.3431T>A (p.Leu1144Gln)
c.3266T>A (p.Leu1089Gln)
1g.16986121_16986122delCA2643667881ATP13A2c.*99_*100del (n.*99_*100del)
c.3340_3341del (p.Leu1114GlufsTer20)
n.1688_1689del
c.1060_1061del (p.Leu354GlufsTer20)
c.3472_3473del (p.Leu1158GlufsTer20)
c.3469_3470del (p.Leu1157GlufsTer20)
c.3457_3458del (p.Leu1153GlufsTer20)
c.3445_3446del (p.Leu1149GlufsTer20)
c.3412_3413del (p.Leu1138GlufsTer20)
c.3355_3356del (p.Leu1119GlufsTer20)
c.3454_3455del (p.Leu1152GlufsTer20)
c.3430_3431del (p.Leu1144GlufsTer20)
c.3265_3266del (p.Leu1089GlufsTer20)
 gnomAD v4
1g.16986122G>CCA338231233ATP13A2c.*99C>G (n.*99C>G)
c.3340C>G (p.Leu1114Val)
n.1688C>G
c.1060C>G (p.Leu354Val)
c.3472C>G (p.Leu1158Val)
c.3469C>G (p.Leu1157Val)
c.3457C>G (p.Leu1153Val)
c.3445C>G (p.Leu1149Val)
c.3412C>G (p.Leu1138Val)
c.3355C>G (p.Leu1119Val)
c.3454C>G (p.Leu1152Val)
c.3430C>G (p.Leu1144Val)
c.3265C>G (p.Leu1089Val)
1g.16986122G>TCA338231236ATP13A2c.*99C>A (n.*99C>A)
c.3340C>A (p.Leu1114Met)
n.1688C>A
c.1060C>A (p.Leu354Met)
c.3472C>A (p.Leu1158Met)
c.3469C>A (p.Leu1157Met)
c.3457C>A (p.Leu1153Met)
c.3445C>A (p.Leu1149Met)
c.3412C>A (p.Leu1138Met)
c.3355C>A (p.Leu1119Met)
c.3454C>A (p.Leu1152Met)
c.3430C>A (p.Leu1144Met)
c.3265C>A (p.Leu1089Met)
 gnomAD v4
1g.16986123G>ACA890928389ATP13A2c.*98C>T (n.*98C>T)
c.3339C>T (p.Ser1113=)
n.1687C>T
c.1059C>T (p.Ser353=)
c.3471C>T (p.Ser1157=)
c.3468C>T (p.Ser1156=)
c.3456C>T (p.Ser1152=)
c.3444C>T (p.Ser1148=)
c.3411C>T (p.Ser1137=)
c.3354C>T (p.Ser1118=)
c.3453C>T (p.Ser1151=)
c.3429C>T (p.Ser1143=)
c.3264C>T (p.Ser1088=)
 dbSNP gnomAD v3 gnomAD v4
1g.16986123G=CA1156048895ATP13A2c.*98C= (n.*98C=)
c.3339C= (p.Ser1113=)
n.1687C=
c.1059C= (p.Ser353=)
c.3471C= (p.Ser1157=)
c.3468C= (p.Ser1156=)
c.3456C= (p.Ser1152=)
c.3444C= (p.Ser1148=)
c.3411C= (p.Ser1137=)
c.3354C= (p.Ser1118=)
c.3453C= (p.Ser1151=)
c.3429C= (p.Ser1143=)
c.3264C= (p.Ser1088=)
1g.16986124G>ACA636432ATP13A2c.*97C>T (n.*97C>T)
c.3338C>T (p.Ser1113Phe)
n.1686C>T
c.1058C>T (p.Ser353Phe)
c.3470C>T (p.Ser1157Phe)
c.3467C>T (p.Ser1156Phe)
c.3455C>T (p.Ser1152Phe)
c.3443C>T (p.Ser1148Phe)
c.3410C>T (p.Ser1137Phe)
c.3353C>T (p.Ser1118Phe)
c.3452C>T (p.Ser1151Phe)
c.3428C>T (p.Ser1143Phe)
c.3263C>T (p.Ser1088Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986124G>CCA18624440ATP13A2c.*97C>G (n.*97C>G)
c.3338C>G (p.Ser1113Cys)
n.1686C>G
c.1058C>G (p.Ser353Cys)
c.3470C>G (p.Ser1157Cys)
c.3467C>G (p.Ser1156Cys)
c.3455C>G (p.Ser1152Cys)
c.3443C>G (p.Ser1148Cys)
c.3410C>G (p.Ser1137Cys)
c.3353C>G (p.Ser1118Cys)
c.3452C>G (p.Ser1151Cys)
c.3428C>G (p.Ser1143Cys)
c.3263C>G (p.Ser1088Cys)
 dbSNP gnomAD v4
1g.16986124G=CA1156048898ATP13A2c.*97C= (n.*97C=)
c.3338C= (p.Ser1113=)
n.1686C=
c.1058C= (p.Ser353=)
c.3470C= (p.Ser1157=)
c.3467C= (p.Ser1156=)
c.3455C= (p.Ser1152=)
c.3443C= (p.Ser1148=)
c.3410C= (p.Ser1137=)
c.3353C= (p.Ser1118=)
c.3452C= (p.Ser1151=)
c.3428C= (p.Ser1143=)
c.3263C= (p.Ser1088=)
1g.16986124G>TCA338231253ATP13A2c.*97C>A (n.*97C>A)
c.3338C>A (p.Ser1113Tyr)
n.1686C>A
c.1058C>A (p.Ser353Tyr)
c.3470C>A (p.Ser1157Tyr)
c.3467C>A (p.Ser1156Tyr)
c.3455C>A (p.Ser1152Tyr)
c.3443C>A (p.Ser1148Tyr)
c.3410C>A (p.Ser1137Tyr)
c.3353C>A (p.Ser1118Tyr)
c.3452C>A (p.Ser1151Tyr)
c.3428C>A (p.Ser1143Tyr)
c.3263C>A (p.Ser1088Tyr)
 gnomAD v4
1g.16986125A>CCA338231257ATP13A2c.*96T>G (n.*96T>G)
c.3337T>G (p.Ser1113Ala)
n.1685T>G
c.1057T>G (p.Ser353Ala)
c.3469T>G (p.Ser1157Ala)
c.3466T>G (p.Ser1156Ala)
c.3454T>G (p.Ser1152Ala)
c.3442T>G (p.Ser1148Ala)
c.3409T>G (p.Ser1137Ala)
c.3352T>G (p.Ser1118Ala)
c.3451T>G (p.Ser1151Ala)
c.3427T>G (p.Ser1143Ala)
c.3262T>G (p.Ser1088Ala)
1g.16986125A>GCA338231259ATP13A2c.*96T>C (n.*96T>C)
c.3337T>C (p.Ser1113Pro)
n.1685T>C
c.1057T>C (p.Ser353Pro)
c.3469T>C (p.Ser1157Pro)
c.3466T>C (p.Ser1156Pro)
c.3454T>C (p.Ser1152Pro)
c.3442T>C (p.Ser1148Pro)
c.3409T>C (p.Ser1137Pro)
c.3352T>C (p.Ser1118Pro)
c.3451T>C (p.Ser1151Pro)
c.3427T>C (p.Ser1143Pro)
c.3262T>C (p.Ser1088Pro)
1g.16986125A>TCA338231262ATP13A2c.*96T>A (n.*96T>A)
c.3337T>A (p.Ser1113Thr)
n.1685T>A
c.1057T>A (p.Ser353Thr)
c.3469T>A (p.Ser1157Thr)
c.3466T>A (p.Ser1156Thr)
c.3454T>A (p.Ser1152Thr)
c.3442T>A (p.Ser1148Thr)
c.3409T>A (p.Ser1137Thr)
c.3352T>A (p.Ser1118Thr)
c.3451T>A (p.Ser1151Thr)
c.3427T>A (p.Ser1143Thr)
c.3262T>A (p.Ser1088Thr)
1g.16986126T>CCA636433ATP13A2c.*95A>G (n.*95A>G)
c.3336A>G (p.Thr1112=)
n.1684A>G
c.1056A>G (p.Thr352=)
c.3468A>G (p.Thr1156=)
c.3465A>G (p.Thr1155=)
c.3453A>G (p.Thr1151=)
c.3441A>G (p.Thr1147=)
c.3408A>G (p.Thr1136=)
c.3351A>G (p.Thr1117=)
c.3450A>G (p.Thr1150=)
c.3426A>G (p.Thr1142=)
c.3261A>G (p.Thr1087=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986126T>GCA2742638025ATP13A2c.*95A>C (n.*95A>C)
c.3336A>C (p.Thr1112=)
n.1684A>C
c.1056A>C (p.Thr352=)
c.3468A>C (p.Thr1156=)
c.3465A>C (p.Thr1155=)
c.3453A>C (p.Thr1151=)
c.3441A>C (p.Thr1147=)
c.3408A>C (p.Thr1136=)
c.3351A>C (p.Thr1117=)
c.3450A>C (p.Thr1150=)
c.3426A>C (p.Thr1142=)
c.3261A>C (p.Thr1087=)
1g.16986126T=CA1148877532ATP13A2c.*95A= (n.*95A=)
c.3336A= (p.Thr1112=)
n.1684A=
c.1056A= (p.Thr352=)
c.3468A= (p.Thr1156=)
c.3465A= (p.Thr1155=)
c.3453A= (p.Thr1151=)
c.3441A= (p.Thr1147=)
c.3408A= (p.Thr1136=)
c.3351A= (p.Thr1117=)
c.3450A= (p.Thr1150=)
c.3426A= (p.Thr1142=)
c.3261A= (p.Thr1087=)
1g.16986127G>ACA338231276ATP13A2c.*94C>T (n.*94C>T)
c.3335C>T (p.Thr1112Ile)
n.1683C>T
c.1055C>T (p.Thr352Ile)
c.3467C>T (p.Thr1156Ile)
c.3464C>T (p.Thr1155Ile)
c.3452C>T (p.Thr1151Ile)
c.3440C>T (p.Thr1147Ile)
c.3407C>T (p.Thr1136Ile)
c.3350C>T (p.Thr1117Ile)
c.3449C>T (p.Thr1150Ile)
c.3425C>T (p.Thr1142Ile)
c.3260C>T (p.Thr1087Ile)
1g.16986127G>CCA338231274ATP13A2c.*94C>G (n.*94C>G)
c.3335C>G (p.Thr1112Arg)
n.1683C>G
c.1055C>G (p.Thr352Arg)
c.3467C>G (p.Thr1156Arg)
c.3464C>G (p.Thr1155Arg)
c.3452C>G (p.Thr1151Arg)
c.3440C>G (p.Thr1147Arg)
c.3407C>G (p.Thr1136Arg)
c.3350C>G (p.Thr1117Arg)
c.3449C>G (p.Thr1150Arg)
c.3425C>G (p.Thr1142Arg)
c.3260C>G (p.Thr1087Arg)
1g.16986127G>TCA338231269ATP13A2c.*94C>A (n.*94C>A)
c.3335C>A (p.Thr1112Lys)
n.1683C>A
c.1055C>A (p.Thr352Lys)
c.3467C>A (p.Thr1156Lys)
c.3464C>A (p.Thr1155Lys)
c.3452C>A (p.Thr1151Lys)
c.3440C>A (p.Thr1147Lys)
c.3407C>A (p.Thr1136Lys)
c.3350C>A (p.Thr1117Lys)
c.3449C>A (p.Thr1150Lys)
c.3425C>A (p.Thr1142Lys)
c.3260C>A (p.Thr1087Lys)
1g.16986128T>ACA338231278ATP13A2c.*93A>T (n.*93A>T)
c.3334A>T (p.Thr1112Ser)
n.1682A>T
c.1054A>T (p.Thr352Ser)
c.3466A>T (p.Thr1156Ser)
c.3463A>T (p.Thr1155Ser)
c.3451A>T (p.Thr1151Ser)
c.3439A>T (p.Thr1147Ser)
c.3406A>T (p.Thr1136Ser)
c.3349A>T (p.Thr1117Ser)
c.3448A>T (p.Thr1150Ser)
c.3424A>T (p.Thr1142Ser)
c.3259A>T (p.Thr1087Ser)
1g.16986128T>CCA338231280ATP13A2c.*93A>G (n.*93A>G)
c.3334A>G (p.Thr1112Ala)
n.1682A>G
c.1054A>G (p.Thr352Ala)
c.3466A>G (p.Thr1156Ala)
c.3463A>G (p.Thr1155Ala)
c.3451A>G (p.Thr1151Ala)
c.3439A>G (p.Thr1147Ala)
c.3406A>G (p.Thr1136Ala)
c.3349A>G (p.Thr1117Ala)
c.3448A>G (p.Thr1150Ala)
c.3424A>G (p.Thr1142Ala)
c.3259A>G (p.Thr1087Ala)
1g.16986128T>GCA338231282ATP13A2c.*93A>C (n.*93A>C)
c.3334A>C (p.Thr1112Pro)
n.1682A>C
c.1054A>C (p.Thr352Pro)
c.3466A>C (p.Thr1156Pro)
c.3463A>C (p.Thr1155Pro)
c.3451A>C (p.Thr1151Pro)
c.3439A>C (p.Thr1147Pro)
c.3406A>C (p.Thr1136Pro)
c.3349A>C (p.Thr1117Pro)
c.3448A>C (p.Thr1150Pro)
c.3424A>C (p.Thr1142Pro)
c.3259A>C (p.Thr1087Pro)
1g.16986129G>ACA521449593ATP13A2c.*92C>T (n.*92C>T)
c.3333C>T (p.Pro1111=)
n.1681C>T
c.1053C>T (p.Pro351=)
c.3465C>T (p.Pro1155=)
c.3462C>T (p.Pro1154=)
c.3450C>T (p.Pro1150=)
c.3438C>T (p.Pro1146=)
c.3405C>T (p.Pro1135=)
c.3348C>T (p.Pro1116=)
c.3447C>T (p.Pro1149=)
c.3423C>T (p.Pro1141=)
c.3258C>T (p.Pro1086=)
 dbSNP gnomAD v2
1g.16986129G=CA1156048902ATP13A2c.*92C= (n.*92C=)
c.3333C= (p.Pro1111=)
n.1681C=
c.1053C= (p.Pro351=)
c.3465C= (p.Pro1155=)
c.3462C= (p.Pro1154=)
c.3450C= (p.Pro1150=)
c.3438C= (p.Pro1146=)
c.3405C= (p.Pro1135=)
c.3348C= (p.Pro1116=)
c.3447C= (p.Pro1149=)
c.3423C= (p.Pro1141=)
c.3258C= (p.Pro1086=)
1g.16986129G>TCA2742638028ATP13A2c.*92C>A (n.*92C>A)
c.3333C>A (p.Pro1111=)
n.1681C>A
c.1053C>A (p.Pro351=)
c.3465C>A (p.Pro1155=)
c.3462C>A (p.Pro1154=)
c.3450C>A (p.Pro1150=)
c.3438C>A (p.Pro1146=)
c.3405C>A (p.Pro1135=)
c.3348C>A (p.Pro1116=)
c.3447C>A (p.Pro1149=)
c.3423C>A (p.Pro1141=)
c.3258C>A (p.Pro1086=)
1g.16986130G>ACA338231284ATP13A2c.*91C>T (n.*91C>T)
c.3332C>T (p.Pro1111Leu)
n.1680C>T
c.1052C>T (p.Pro351Leu)
c.3464C>T (p.Pro1155Leu)
c.3461C>T (p.Pro1154Leu)
c.3449C>T (p.Pro1150Leu)
c.3437C>T (p.Pro1146Leu)
c.3404C>T (p.Pro1135Leu)
c.3347C>T (p.Pro1116Leu)
c.3446C>T (p.Pro1149Leu)
c.3422C>T (p.Pro1141Leu)
c.3257C>T (p.Pro1086Leu)
 gnomAD v4
1g.16986130G>CCA338231286ATP13A2c.*91C>G (n.*91C>G)
c.3332C>G (p.Pro1111Arg)
n.1680C>G
c.1052C>G (p.Pro351Arg)
c.3464C>G (p.Pro1155Arg)
c.3461C>G (p.Pro1154Arg)
c.3449C>G (p.Pro1150Arg)
c.3437C>G (p.Pro1146Arg)
c.3404C>G (p.Pro1135Arg)
c.3347C>G (p.Pro1116Arg)
c.3446C>G (p.Pro1149Arg)
c.3422C>G (p.Pro1141Arg)
c.3257C>G (p.Pro1086Arg)
 gnomAD v4
1g.16986130G>TCA338231292ATP13A2c.*91C>A (n.*91C>A)
c.3332C>A (p.Pro1111His)
n.1680C>A
c.1052C>A (p.Pro351His)
c.3464C>A (p.Pro1155His)
c.3461C>A (p.Pro1154His)
c.3449C>A (p.Pro1150His)
c.3437C>A (p.Pro1146His)
c.3404C>A (p.Pro1135His)
c.3347C>A (p.Pro1116His)
c.3446C>A (p.Pro1149His)
c.3422C>A (p.Pro1141His)
c.3257C>A (p.Pro1086His)
1g.16986131G>ACA338231294ATP13A2c.*90C>T (n.*90C>T)
c.3331C>T (p.Pro1111Ser)
n.1679C>T
c.1051C>T (p.Pro351Ser)
c.3463C>T (p.Pro1155Ser)
c.3460C>T (p.Pro1154Ser)
c.3448C>T (p.Pro1150Ser)
c.3436C>T (p.Pro1146Ser)
c.3403C>T (p.Pro1135Ser)
c.3346C>T (p.Pro1116Ser)
c.3445C>T (p.Pro1149Ser)
c.3421C>T (p.Pro1141Ser)
c.3256C>T (p.Pro1086Ser)
1g.16986131G>CCA338231296ATP13A2c.*90C>G (n.*90C>G)
c.3331C>G (p.Pro1111Ala)
n.1679C>G
c.1051C>G (p.Pro351Ala)
c.3463C>G (p.Pro1155Ala)
c.3460C>G (p.Pro1154Ala)
c.3448C>G (p.Pro1150Ala)
c.3436C>G (p.Pro1146Ala)
c.3403C>G (p.Pro1135Ala)
c.3346C>G (p.Pro1116Ala)
c.3445C>G (p.Pro1149Ala)
c.3421C>G (p.Pro1141Ala)
c.3256C>G (p.Pro1086Ala)
1g.16986131G>TCA338231300ATP13A2c.*90C>A (n.*90C>A)
c.3331C>A (p.Pro1111Thr)
n.1679C>A
c.1051C>A (p.Pro351Thr)
c.3463C>A (p.Pro1155Thr)
c.3460C>A (p.Pro1154Thr)
c.3448C>A (p.Pro1150Thr)
c.3436C>A (p.Pro1146Thr)
c.3403C>A (p.Pro1135Thr)
c.3346C>A (p.Pro1116Thr)
c.3445C>A (p.Pro1149Thr)
c.3421C>A (p.Pro1141Thr)
c.3256C>A (p.Pro1086Thr)
1g.16986133G>ACA18624441ATP13A2c.*88C>T (n.*88C>T)
c.3329C>T (p.Pro1110Leu)
n.1677C>T
c.1049C>T (p.Pro350Leu)
c.3461C>T (p.Pro1154Leu)
c.3458C>T (p.Pro1153Leu)
c.3446C>T (p.Pro1149Leu)
c.3434C>T (p.Pro1145Leu)
c.3401C>T (p.Pro1134Leu)
c.3344C>T (p.Pro1115Leu)
c.3443C>T (p.Pro1148Leu)
c.3419C>T (p.Pro1140Leu)
c.3254C>T (p.Pro1085Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986133G>CCA338231304ATP13A2c.*88C>G (n.*88C>G)
c.3329C>G (p.Pro1110Arg)
n.1677C>G
c.1049C>G (p.Pro350Arg)
c.3461C>G (p.Pro1154Arg)
c.3458C>G (p.Pro1153Arg)
c.3446C>G (p.Pro1149Arg)
c.3434C>G (p.Pro1145Arg)
c.3401C>G (p.Pro1134Arg)
c.3344C>G (p.Pro1115Arg)
c.3443C>G (p.Pro1148Arg)
c.3419C>G (p.Pro1140Arg)
c.3254C>G (p.Pro1085Arg)
1g.16986133G=CA1156048903ATP13A2c.*88C= (n.*88C=)
c.3329C= (p.Pro1110=)
n.1677C=
c.1049C= (p.Pro350=)
c.3461C= (p.Pro1154=)
c.3458C= (p.Pro1153=)
c.3446C= (p.Pro1149=)
c.3434C= (p.Pro1145=)
c.3401C= (p.Pro1134=)
c.3344C= (p.Pro1115=)
c.3443C= (p.Pro1148=)
c.3419C= (p.Pro1140=)
c.3254C= (p.Pro1085=)
1g.16986133G>TCA338231305ATP13A2c.*88C>A (n.*88C>A)
c.3329C>A (p.Pro1110His)
n.1677C>A
c.1049C>A (p.Pro350His)
c.3461C>A (p.Pro1154His)
c.3458C>A (p.Pro1153His)
c.3446C>A (p.Pro1149His)
c.3434C>A (p.Pro1145His)
c.3401C>A (p.Pro1134His)
c.3344C>A (p.Pro1115His)
c.3443C>A (p.Pro1148His)
c.3419C>A (p.Pro1140His)
c.3254C>A (p.Pro1085His)
 gnomAD v4
1g.16986140_16986148delCA2643667908ATP13A2c.*80_*88del (n.*80_*88del)
c.3321_3329del (p.Pro1108_Pro1110del)
n.1669_1677del
c.1041_1049del (p.Pro348_Pro350del)
c.3453_3461del (p.Pro1152_Pro1154del)
c.3450_3458del (p.Pro1151_Pro1153del)
c.3438_3446del (p.Pro1147_Pro1149del)
c.3426_3434del (p.Pro1143_Pro1145del)
c.3393_3401del (p.Pro1132_Pro1134del)
c.3336_3344del (p.Pro1113_Pro1115del)
c.3435_3443del (p.Pro1146_Pro1148del)
c.3411_3419del (p.Pro1138_Pro1140del)
c.3246_3254del (p.Pro1083_Pro1085del)
 gnomAD v4
1g.16986134G>ACA338231310ATP13A2c.*87C>T (n.*87C>T)
c.3328C>T (p.Pro1110Ser)
n.1676C>T
c.1048C>T (p.Pro350Ser)
c.3460C>T (p.Pro1154Ser)
c.3457C>T (p.Pro1153Ser)
c.3445C>T (p.Pro1149Ser)
c.3433C>T (p.Pro1145Ser)
c.3400C>T (p.Pro1134Ser)
c.3343C>T (p.Pro1115Ser)
c.3442C>T (p.Pro1148Ser)
c.3418C>T (p.Pro1140Ser)
c.3253C>T (p.Pro1085Ser)
 gnomAD v4
1g.16986134G>CCA338231307ATP13A2c.*87C>G (n.*87C>G)
c.3328C>G (p.Pro1110Ala)
n.1676C>G
c.1048C>G (p.Pro350Ala)
c.3460C>G (p.Pro1154Ala)
c.3457C>G (p.Pro1153Ala)
c.3445C>G (p.Pro1149Ala)
c.3433C>G (p.Pro1145Ala)
c.3400C>G (p.Pro1134Ala)
c.3343C>G (p.Pro1115Ala)
c.3442C>G (p.Pro1148Ala)
c.3418C>G (p.Pro1140Ala)
c.3253C>G (p.Pro1085Ala)
1g.16986134G=CA1156048905ATP13A2c.*87C= (n.*87C=)
c.3328C= (p.Pro1110=)
n.1676C=
c.1048C= (p.Pro350=)
c.3460C= (p.Pro1154=)
c.3457C= (p.Pro1153=)
c.3445C= (p.Pro1149=)
c.3433C= (p.Pro1145=)
c.3400C= (p.Pro1134=)
c.3343C= (p.Pro1115=)
c.3442C= (p.Pro1148=)
c.3418C= (p.Pro1140=)
c.3253C= (p.Pro1085=)
1g.16986134G>TCA338231306ATP13A2c.*87C>A (n.*87C>A)
c.3328C>A (p.Pro1110Thr)
n.1676C>A
c.1048C>A (p.Pro350Thr)
c.3460C>A (p.Pro1154Thr)
c.3457C>A (p.Pro1153Thr)
c.3445C>A (p.Pro1149Thr)
c.3433C>A (p.Pro1145Thr)
c.3400C>A (p.Pro1134Thr)
c.3343C>A (p.Pro1115Thr)
c.3442C>A (p.Pro1148Thr)
c.3418C>A (p.Pro1140Thr)
c.3253C>A (p.Pro1085Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.16986136G>ACA338231314ATP13A2c.*85C>T (n.*85C>T)
c.3326C>T (p.Pro1109Leu)
n.1674C>T
c.1046C>T (p.Pro349Leu)
c.3458C>T (p.Pro1153Leu)
c.3455C>T (p.Pro1152Leu)
c.3443C>T (p.Pro1148Leu)
c.3431C>T (p.Pro1144Leu)
c.3398C>T (p.Pro1133Leu)
c.3341C>T (p.Pro1114Leu)
c.3440C>T (p.Pro1147Leu)
c.3416C>T (p.Pro1139Leu)
c.3251C>T (p.Pro1084Leu)
1g.16986136G>CCA338231316ATP13A2c.*85C>G (n.*85C>G)
c.3326C>G (p.Pro1109Arg)
n.1674C>G
c.1046C>G (p.Pro349Arg)
c.3458C>G (p.Pro1153Arg)
c.3455C>G (p.Pro1152Arg)
c.3443C>G (p.Pro1148Arg)
c.3431C>G (p.Pro1144Arg)
c.3398C>G (p.Pro1133Arg)
c.3341C>G (p.Pro1114Arg)
c.3440C>G (p.Pro1147Arg)
c.3416C>G (p.Pro1139Arg)
c.3251C>G (p.Pro1084Arg)
1g.16986136G>TCA338231322ATP13A2c.*85C>A (n.*85C>A)
c.3326C>A (p.Pro1109Gln)
n.1674C>A
c.1046C>A (p.Pro349Gln)
c.3458C>A (p.Pro1153Gln)
c.3455C>A (p.Pro1152Gln)
c.3443C>A (p.Pro1148Gln)
c.3431C>A (p.Pro1144Gln)
c.3398C>A (p.Pro1133Gln)
c.3341C>A (p.Pro1114Gln)
c.3440C>A (p.Pro1147Gln)
c.3416C>A (p.Pro1139Gln)
c.3251C>A (p.Pro1084Gln)
1g.16986137G>ACA338231324ATP13A2c.*84C>T (n.*84C>T)
c.3325C>T (p.Pro1109Ser)
n.1673C>T
c.1045C>T (p.Pro349Ser)
c.3457C>T (p.Pro1153Ser)
c.3454C>T (p.Pro1152Ser)
c.3442C>T (p.Pro1148Ser)
c.3430C>T (p.Pro1144Ser)
c.3397C>T (p.Pro1133Ser)
c.3340C>T (p.Pro1114Ser)
c.3439C>T (p.Pro1147Ser)
c.3415C>T (p.Pro1139Ser)
c.3250C>T (p.Pro1084Ser)
1g.16986137G>CCA338231325ATP13A2c.*84C>G (n.*84C>G)
c.3325C>G (p.Pro1109Ala)
n.1673C>G
c.1045C>G (p.Pro349Ala)
c.3457C>G (p.Pro1153Ala)
c.3454C>G (p.Pro1152Ala)
c.3442C>G (p.Pro1148Ala)
c.3430C>G (p.Pro1144Ala)
c.3397C>G (p.Pro1133Ala)
c.3340C>G (p.Pro1114Ala)
c.3439C>G (p.Pro1147Ala)
c.3415C>G (p.Pro1139Ala)
c.3250C>G (p.Pro1084Ala)
1g.16986137G=CA1156048910ATP13A2c.*84C= (n.*84C=)
c.3325C= (p.Pro1109=)
n.1673C=
c.1045C= (p.Pro349=)
c.3457C= (p.Pro1153=)
c.3454C= (p.Pro1152=)
c.3442C= (p.Pro1148=)
c.3430C= (p.Pro1144=)
c.3397C= (p.Pro1133=)
c.3340C= (p.Pro1114=)
c.3439C= (p.Pro1147=)
c.3415C= (p.Pro1139=)
c.3250C= (p.Pro1084=)
1g.16986137G>TCA338231326ATP13A2c.*84C>A (n.*84C>A)
c.3325C>A (p.Pro1109Thr)
n.1673C>A
c.1045C>A (p.Pro349Thr)
c.3457C>A (p.Pro1153Thr)
c.3454C>A (p.Pro1152Thr)
c.3442C>A (p.Pro1148Thr)
c.3430C>A (p.Pro1144Thr)
c.3397C>A (p.Pro1133Thr)
c.3340C>A (p.Pro1114Thr)
c.3439C>A (p.Pro1147Thr)
c.3415C>A (p.Pro1139Thr)
c.3250C>A (p.Pro1084Thr)
 gnomAD v4
1g.16986138T>CCA18624446ATP13A2c.*83A>G (n.*83A>G)
c.3324A>G (p.Pro1108=)
n.1672A>G
c.1044A>G (p.Pro348=)
c.3456A>G (p.Pro1152=)
c.3453A>G (p.Pro1151=)
c.3441A>G (p.Pro1147=)
c.3429A>G (p.Pro1143=)
c.3396A>G (p.Pro1132=)
c.3339A>G (p.Pro1113=)
c.3438A>G (p.Pro1146=)
c.3414A>G (p.Pro1138=)
c.3249A>G (p.Pro1083=)
 dbSNP gnomAD v4
1g.16986138T=CA1156048911ATP13A2c.*83A= (n.*83A=)
c.3324A= (p.Pro1108=)
n.1672A=
c.1044A= (p.Pro348=)
c.3456A= (p.Pro1152=)
c.3453A= (p.Pro1151=)
c.3441A= (p.Pro1147=)
c.3429A= (p.Pro1143=)
c.3396A= (p.Pro1132=)
c.3339A= (p.Pro1113=)
c.3438A= (p.Pro1146=)
c.3414A= (p.Pro1138=)
c.3249A= (p.Pro1083=)
1g.16986138dupCA999084957ATP13A2c.*83dup (n.*83dup)
c.3324dup (p.Pro1109ThrfsTer26)
n.1672dup
c.1044dup (p.Pro349ThrfsTer26)
c.3456dup (p.Pro1153ThrfsTer26)
c.3453dup (p.Pro1152ThrfsTer26)
c.3441dup (p.Pro1148ThrfsTer26)
c.3429dup (p.Pro1144ThrfsTer26)
c.3396dup (p.Pro1133ThrfsTer26)
c.3339dup (p.Pro1114ThrfsTer26)
c.3438dup (p.Pro1147ThrfsTer26)
c.3414dup (p.Pro1139ThrfsTer26)
c.3249dup (p.Pro1084ThrfsTer26)
 dbSNP
1g.16986139G>ACA338231327ATP13A2c.*82C>T (n.*82C>T)
c.3323C>T (p.Pro1108Leu)
n.1671C>T
c.1043C>T (p.Pro348Leu)
c.3455C>T (p.Pro1152Leu)
c.3452C>T (p.Pro1151Leu)
c.3440C>T (p.Pro1147Leu)
c.3428C>T (p.Pro1143Leu)
c.3395C>T (p.Pro1132Leu)
c.3338C>T (p.Pro1113Leu)
c.3437C>T (p.Pro1146Leu)
c.3413C>T (p.Pro1138Leu)
c.3248C>T (p.Pro1083Leu)
1g.16986139G>CCA338231328ATP13A2c.*82C>G (n.*82C>G)
c.3323C>G (p.Pro1108Arg)
n.1671C>G
c.1043C>G (p.Pro348Arg)
c.3455C>G (p.Pro1152Arg)
c.3452C>G (p.Pro1151Arg)
c.3440C>G (p.Pro1147Arg)
c.3428C>G (p.Pro1143Arg)
c.3395C>G (p.Pro1132Arg)
c.3338C>G (p.Pro1113Arg)
c.3437C>G (p.Pro1146Arg)
c.3413C>G (p.Pro1138Arg)
c.3248C>G (p.Pro1083Arg)
1g.16986139G>TCA338231329ATP13A2c.*82C>A (n.*82C>A)
c.3323C>A (p.Pro1108Gln)
n.1671C>A
c.1043C>A (p.Pro348Gln)
c.3455C>A (p.Pro1152Gln)
c.3452C>A (p.Pro1151Gln)
c.3440C>A (p.Pro1147Gln)
c.3428C>A (p.Pro1143Gln)
c.3395C>A (p.Pro1132Gln)
c.3338C>A (p.Pro1113Gln)
c.3437C>A (p.Pro1146Gln)
c.3413C>A (p.Pro1138Gln)
c.3248C>A (p.Pro1083Gln)
1g.16986140dupCA2574234671ATP13A2c.*82dup (n.*82dup)
c.3323dup (p.Pro1109ThrfsTer26)
n.1671dup
c.1043dup (p.Pro349ThrfsTer26)
c.3455dup (p.Pro1153ThrfsTer26)
c.3452dup (p.Pro1152ThrfsTer26)
c.3440dup (p.Pro1148ThrfsTer26)
c.3428dup (p.Pro1144ThrfsTer26)
c.3395dup (p.Pro1133ThrfsTer26)
c.3338dup (p.Pro1114ThrfsTer26)
c.3437dup (p.Pro1147ThrfsTer26)
c.3413dup (p.Pro1139ThrfsTer26)
c.3248dup (p.Pro1084ThrfsTer26)
1g.16986140G>ACA338231331ATP13A2c.*81C>T (n.*81C>T)
c.3322C>T (p.Pro1108Ser)
n.1670C>T
c.1042C>T (p.Pro348Ser)
c.3454C>T (p.Pro1152Ser)
c.3451C>T (p.Pro1151Ser)
c.3439C>T (p.Pro1147Ser)
c.3427C>T (p.Pro1143Ser)
c.3394C>T (p.Pro1132Ser)
c.3337C>T (p.Pro1113Ser)
c.3436C>T (p.Pro1146Ser)
c.3412C>T (p.Pro1138Ser)
c.3247C>T (p.Pro1083Ser)
1g.16986140G>CCA338231333ATP13A2c.*81C>G (n.*81C>G)
c.3322C>G (p.Pro1108Ala)
n.1670C>G
c.1042C>G (p.Pro348Ala)
c.3454C>G (p.Pro1152Ala)
c.3451C>G (p.Pro1151Ala)
c.3439C>G (p.Pro1147Ala)
c.3427C>G (p.Pro1143Ala)
c.3394C>G (p.Pro1132Ala)
c.3337C>G (p.Pro1113Ala)
c.3436C>G (p.Pro1146Ala)
c.3412C>G (p.Pro1138Ala)
c.3247C>G (p.Pro1083Ala)
1g.16986140G>TCA338231335ATP13A2c.*81C>A (n.*81C>A)
c.3322C>A (p.Pro1108Thr)
n.1670C>A
c.1042C>A (p.Pro348Thr)
c.3454C>A (p.Pro1152Thr)
c.3451C>A (p.Pro1151Thr)
c.3439C>A (p.Pro1147Thr)
c.3427C>A (p.Pro1143Thr)
c.3394C>A (p.Pro1132Thr)
c.3337C>A (p.Pro1113Thr)
c.3436C>A (p.Pro1146Thr)
c.3412C>A (p.Pro1138Thr)
c.3247C>A (p.Pro1083Thr)
1g.16986141C>ACA1156048914ATP13A2c.*80G>T (n.*80G>T)
c.3321G>T (p.Pro1107=)
n.1669G>T
c.1041G>T (p.Pro347=)
c.3453G>T (p.Pro1151=)
c.3450G>T (p.Pro1150=)
c.3438G>T (p.Pro1146=)
c.3426G>T (p.Pro1142=)
c.3393G>T (p.Pro1131=)
c.3336G>T (p.Pro1112=)
c.3435G>T (p.Pro1145=)
c.3411G>T (p.Pro1137=)
c.3246G>T (p.Pro1082=)
 dbSNP gnomAD v4
1g.16986141C=CA1156048913ATP13A2c.*80G= (n.*80G=)
c.3321G= (p.Pro1107=)
n.1669G=
c.1041G= (p.Pro347=)
c.3453G= (p.Pro1151=)
c.3450G= (p.Pro1150=)
c.3438G= (p.Pro1146=)
c.3426G= (p.Pro1142=)
c.3393G= (p.Pro1131=)
c.3336G= (p.Pro1112=)
c.3435G= (p.Pro1145=)
c.3411G= (p.Pro1137=)
c.3246G= (p.Pro1082=)
1g.16986141C>TCA521449594ATP13A2c.*80G>A (n.*80G>A)
c.3321G>A (p.Pro1107=)
n.1669G>A
c.1041G>A (p.Pro347=)
c.3453G>A (p.Pro1151=)
c.3450G>A (p.Pro1150=)
c.3438G>A (p.Pro1146=)
c.3426G>A (p.Pro1142=)
c.3393G>A (p.Pro1131=)
c.3336G>A (p.Pro1112=)
c.3435G>A (p.Pro1145=)
c.3411G>A (p.Pro1137=)
c.3246G>A (p.Pro1082=)
 dbSNP gnomAD v2 gnomAD v4
1g.16986142G>ACA636435ATP13A2c.*79C>T (n.*79C>T)
c.3320C>T (p.Pro1107Leu)
n.1668C>T
c.1040C>T (p.Pro347Leu)
c.3452C>T (p.Pro1151Leu)
c.3449C>T (p.Pro1150Leu)
c.3437C>T (p.Pro1146Leu)
c.3425C>T (p.Pro1142Leu)
c.3392C>T (p.Pro1131Leu)
c.3335C>T (p.Pro1112Leu)
c.3434C>T (p.Pro1145Leu)
c.3410C>T (p.Pro1137Leu)
c.3245C>T (p.Pro1082Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986142G>CCA338231337ATP13A2c.*79C>G (n.*79C>G)
c.3320C>G (p.Pro1107Arg)
n.1668C>G
c.1040C>G (p.Pro347Arg)
c.3452C>G (p.Pro1151Arg)
c.3449C>G (p.Pro1150Arg)
c.3437C>G (p.Pro1146Arg)
c.3425C>G (p.Pro1142Arg)
c.3392C>G (p.Pro1131Arg)
c.3335C>G (p.Pro1112Arg)
c.3434C>G (p.Pro1145Arg)
c.3410C>G (p.Pro1137Arg)
c.3245C>G (p.Pro1082Arg)
1g.16986142G=CA1156048919ATP13A2c.*79C= (n.*79C=)
c.3320C= (p.Pro1107=)
n.1668C=
c.1040C= (p.Pro347=)
c.3452C= (p.Pro1151=)
c.3449C= (p.Pro1150=)
c.3437C= (p.Pro1146=)
c.3425C= (p.Pro1142=)
c.3392C= (p.Pro1131=)
c.3335C= (p.Pro1112=)
c.3434C= (p.Pro1145=)
c.3410C= (p.Pro1137=)
c.3245C= (p.Pro1082=)
1g.16986142G>TCA636434ATP13A2c.*79C>A (n.*79C>A)
c.3320C>A (p.Pro1107Gln)
n.1668C>A
c.1040C>A (p.Pro347Gln)
c.3452C>A (p.Pro1151Gln)
c.3449C>A (p.Pro1150Gln)
c.3437C>A (p.Pro1146Gln)
c.3425C>A (p.Pro1142Gln)
c.3392C>A (p.Pro1131Gln)
c.3335C>A (p.Pro1112Gln)
c.3434C>A (p.Pro1145Gln)
c.3410C>A (p.Pro1137Gln)
c.3245C>A (p.Pro1082Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986143G>ACA338231341ATP13A2c.*78C>T (n.*78C>T)
c.3319C>T (p.Pro1107Ser)
n.1667C>T
c.1039C>T (p.Pro347Ser)
c.3451C>T (p.Pro1151Ser)
c.3448C>T (p.Pro1150Ser)
c.3436C>T (p.Pro1146Ser)
c.3424C>T (p.Pro1142Ser)
c.3391C>T (p.Pro1131Ser)
c.3334C>T (p.Pro1112Ser)
c.3433C>T (p.Pro1145Ser)
c.3409C>T (p.Pro1137Ser)
c.3244C>T (p.Pro1082Ser)
 gnomAD v4
1g.16986143G>CCA338231351ATP13A2c.*78C>G (n.*78C>G)
c.3319C>G (p.Pro1107Ala)
n.1667C>G
c.1039C>G (p.Pro347Ala)
c.3451C>G (p.Pro1151Ala)
c.3448C>G (p.Pro1150Ala)
c.3436C>G (p.Pro1146Ala)
c.3424C>G (p.Pro1142Ala)
c.3391C>G (p.Pro1131Ala)
c.3334C>G (p.Pro1112Ala)
c.3433C>G (p.Pro1145Ala)
c.3409C>G (p.Pro1137Ala)
c.3244C>G (p.Pro1082Ala)
1g.16986143G>TCA338231353ATP13A2c.*78C>A (n.*78C>A)
c.3319C>A (p.Pro1107Thr)
n.1667C>A
c.1039C>A (p.Pro347Thr)
c.3451C>A (p.Pro1151Thr)
c.3448C>A (p.Pro1150Thr)
c.3436C>A (p.Pro1146Thr)
c.3424C>A (p.Pro1142Thr)
c.3391C>A (p.Pro1131Thr)
c.3334C>A (p.Pro1112Thr)
c.3433C>A (p.Pro1145Thr)
c.3409C>A (p.Pro1137Thr)
c.3244C>A (p.Pro1082Thr)
 gnomAD v4
1g.16986145G>ACA636436ATP13A2c.*76C>T (n.*76C>T)
c.3317C>T (p.Pro1106Leu)
n.1665C>T
c.1037C>T (p.Pro346Leu)
c.3449C>T (p.Pro1150Leu)
c.3446C>T (p.Pro1149Leu)
c.3434C>T (p.Pro1145Leu)
c.3422C>T (p.Pro1141Leu)
c.3389C>T (p.Pro1130Leu)
c.3332C>T (p.Pro1111Leu)
c.3431C>T (p.Pro1144Leu)
c.3407C>T (p.Pro1136Leu)
c.3242C>T (p.Pro1081Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986145G>CCA338231354ATP13A2c.*76C>G (n.*76C>G)
c.3317C>G (p.Pro1106Arg)
n.1665C>G
c.1037C>G (p.Pro346Arg)
c.3449C>G (p.Pro1150Arg)
c.3446C>G (p.Pro1149Arg)
c.3434C>G (p.Pro1145Arg)
c.3422C>G (p.Pro1141Arg)
c.3389C>G (p.Pro1130Arg)
c.3332C>G (p.Pro1111Arg)
c.3431C>G (p.Pro1144Arg)
c.3407C>G (p.Pro1136Arg)
c.3242C>G (p.Pro1081Arg)
1g.16986145G=CA1156048921ATP13A2c.*76C= (n.*76C=)
c.3317C= (p.Pro1106=)
n.1665C=
c.1037C= (p.Pro346=)
c.3449C= (p.Pro1150=)
c.3446C= (p.Pro1149=)
c.3434C= (p.Pro1145=)
c.3422C= (p.Pro1141=)
c.3389C= (p.Pro1130=)
c.3332C= (p.Pro1111=)
c.3431C= (p.Pro1144=)
c.3407C= (p.Pro1136=)
c.3242C= (p.Pro1081=)
1g.16986145G>TCA338231355ATP13A2c.*76C>A (n.*76C>A)
c.3317C>A (p.Pro1106Gln)
n.1665C>A
c.1037C>A (p.Pro346Gln)
c.3449C>A (p.Pro1150Gln)
c.3446C>A (p.Pro1149Gln)
c.3434C>A (p.Pro1145Gln)
c.3422C>A (p.Pro1141Gln)
c.3389C>A (p.Pro1130Gln)
c.3332C>A (p.Pro1111Gln)
c.3431C>A (p.Pro1144Gln)
c.3407C>A (p.Pro1136Gln)
c.3242C>A (p.Pro1081Gln)
1g.16986146G>ACA338231356ATP13A2c.*75C>T (n.*75C>T)
c.3316C>T (p.Pro1106Ser)
n.1664C>T
c.1036C>T (p.Pro346Ser)
c.3448C>T (p.Pro1150Ser)
c.3445C>T (p.Pro1149Ser)
c.3433C>T (p.Pro1145Ser)
c.3421C>T (p.Pro1141Ser)
c.3388C>T (p.Pro1130Ser)
c.3331C>T (p.Pro1111Ser)
c.3430C>T (p.Pro1144Ser)
c.3406C>T (p.Pro1136Ser)
c.3241C>T (p.Pro1081Ser)
1g.16986146G>CCA338231357ATP13A2c.*75C>G (n.*75C>G)
c.3316C>G (p.Pro1106Ala)
n.1664C>G
c.1036C>G (p.Pro346Ala)
c.3448C>G (p.Pro1150Ala)
c.3445C>G (p.Pro1149Ala)
c.3433C>G (p.Pro1145Ala)
c.3421C>G (p.Pro1141Ala)
c.3388C>G (p.Pro1130Ala)
c.3331C>G (p.Pro1111Ala)
c.3430C>G (p.Pro1144Ala)
c.3406C>G (p.Pro1136Ala)
c.3241C>G (p.Pro1081Ala)
1g.16986146G>TCA338231358ATP13A2c.*75C>A (n.*75C>A)
c.3316C>A (p.Pro1106Thr)
n.1664C>A
c.1036C>A (p.Pro346Thr)
c.3448C>A (p.Pro1150Thr)
c.3445C>A (p.Pro1149Thr)
c.3433C>A (p.Pro1145Thr)
c.3421C>A (p.Pro1141Thr)
c.3388C>A (p.Pro1130Thr)
c.3331C>A (p.Pro1111Thr)
c.3430C>A (p.Pro1144Thr)
c.3406C>A (p.Pro1136Thr)
c.3241C>A (p.Pro1081Thr)
1g.16986147T>CCA2740113482ATP13A2c.*74A>G (n.*74A>G)
c.3315A>G (p.Thr1105=)
n.1663A>G
c.1035A>G (p.Thr345=)
c.3447A>G (p.Thr1149=)
c.3444A>G (p.Thr1148=)
c.3432A>G (p.Thr1144=)
c.3420A>G (p.Thr1140=)
c.3387A>G (p.Thr1129=)
c.3330A>G (p.Thr1110=)
c.3429A>G (p.Thr1143=)
c.3405A>G (p.Thr1135=)
c.3240A>G (p.Thr1080=)
1g.16986147T>GCA2742638034ATP13A2c.*74A>C (n.*74A>C)
c.3315A>C (p.Thr1105=)
n.1663A>C
c.1035A>C (p.Thr345=)
c.3447A>C (p.Thr1149=)
c.3444A>C (p.Thr1148=)
c.3432A>C (p.Thr1144=)
c.3420A>C (p.Thr1140=)
c.3387A>C (p.Thr1129=)
c.3330A>C (p.Thr1110=)
c.3429A>C (p.Thr1143=)
c.3405A>C (p.Thr1135=)
c.3240A>C (p.Thr1080=)
1g.16986148G>ACA338231359ATP13A2c.*73C>T (n.*73C>T)
c.3314C>T (p.Thr1105Ile)
n.1662C>T
c.1034C>T (p.Thr345Ile)
c.3446C>T (p.Thr1149Ile)
c.3443C>T (p.Thr1148Ile)
c.3431C>T (p.Thr1144Ile)
c.3419C>T (p.Thr1140Ile)
c.3386C>T (p.Thr1129Ile)
c.3329C>T (p.Thr1110Ile)
c.3428C>T (p.Thr1143Ile)
c.3404C>T (p.Thr1135Ile)
c.3239C>T (p.Thr1080Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.16986148G>CCA338231360ATP13A2c.*73C>G (n.*73C>G)
c.3314C>G (p.Thr1105Arg)
n.1662C>G
c.1034C>G (p.Thr345Arg)
c.3446C>G (p.Thr1149Arg)
c.3443C>G (p.Thr1148Arg)
c.3431C>G (p.Thr1144Arg)
c.3419C>G (p.Thr1140Arg)
c.3386C>G (p.Thr1129Arg)
c.3329C>G (p.Thr1110Arg)
c.3428C>G (p.Thr1143Arg)
c.3404C>G (p.Thr1135Arg)
c.3239C>G (p.Thr1080Arg)
1g.16986148G=CA1156048924ATP13A2c.*73C= (n.*73C=)
c.3314C= (p.Thr1105=)
n.1662C=
c.1034C= (p.Thr345=)
c.3446C= (p.Thr1149=)
c.3443C= (p.Thr1148=)
c.3431C= (p.Thr1144=)
c.3419C= (p.Thr1140=)
c.3386C= (p.Thr1129=)
c.3329C= (p.Thr1110=)
c.3428C= (p.Thr1143=)
c.3404C= (p.Thr1135=)
c.3239C= (p.Thr1080=)
1g.16986148G>TCA338231361ATP13A2c.*73C>A (n.*73C>A)
c.3314C>A (p.Thr1105Lys)
n.1662C>A
c.1034C>A (p.Thr345Lys)
c.3446C>A (p.Thr1149Lys)
c.3443C>A (p.Thr1148Lys)
c.3431C>A (p.Thr1144Lys)
c.3419C>A (p.Thr1140Lys)
c.3386C>A (p.Thr1129Lys)
c.3329C>A (p.Thr1110Lys)
c.3428C>A (p.Thr1143Lys)
c.3404C>A (p.Thr1135Lys)
c.3239C>A (p.Thr1080Lys)
1g.16986149T>ACA338231370ATP13A2c.*72A>T (n.*72A>T)
c.3313A>T (p.Thr1105Ser)
n.1661A>T
c.1033A>T (p.Thr345Ser)
c.3445A>T (p.Thr1149Ser)
c.3442A>T (p.Thr1148Ser)
c.3430A>T (p.Thr1144Ser)
c.3418A>T (p.Thr1140Ser)
c.3385A>T (p.Thr1129Ser)
c.3328A>T (p.Thr1110Ser)
c.3427A>T (p.Thr1143Ser)
c.3403A>T (p.Thr1135Ser)
c.3238A>T (p.Thr1080Ser)
1g.16986149T>CCA338231368ATP13A2c.*72A>G (n.*72A>G)
c.3313A>G (p.Thr1105Ala)
n.1661A>G
c.1033A>G (p.Thr345Ala)
c.3445A>G (p.Thr1149Ala)
c.3442A>G (p.Thr1148Ala)
c.3430A>G (p.Thr1144Ala)
c.3418A>G (p.Thr1140Ala)
c.3385A>G (p.Thr1129Ala)
c.3328A>G (p.Thr1110Ala)
c.3427A>G (p.Thr1143Ala)
c.3403A>G (p.Thr1135Ala)
c.3238A>G (p.Thr1080Ala)
1g.16986149T>GCA338231363ATP13A2c.*72A>C (n.*72A>C)
c.3313A>C (p.Thr1105Pro)
n.1661A>C
c.1033A>C (p.Thr345Pro)
c.3445A>C (p.Thr1149Pro)
c.3442A>C (p.Thr1148Pro)
c.3430A>C (p.Thr1144Pro)
c.3418A>C (p.Thr1140Pro)
c.3385A>C (p.Thr1129Pro)
c.3328A>C (p.Thr1110Pro)
c.3427A>C (p.Thr1143Pro)
c.3403A>C (p.Thr1135Pro)
c.3238A>C (p.Thr1080Pro)
1g.16986150T>CCA1156048932ATP13A2c.*71A>G (n.*71A>G)
c.3312A>G (p.Ala1104=)
n.1660A>G
c.1032A>G (p.Ala344=)
c.3444A>G (p.Ala1148=)
c.3441A>G (p.Ala1147=)
c.3429A>G (p.Ala1143=)
c.3417A>G (p.Ala1139=)
c.3384A>G (p.Ala1128=)
c.3327A>G (p.Ala1109=)
c.3426A>G (p.Ala1142=)
c.3402A>G (p.Ala1134=)
c.3237A>G (p.Ala1079=)
 dbSNP gnomAD v4
1g.16986150T=CA1156048929ATP13A2c.*71A= (n.*71A=)
c.3312A= (p.Ala1104=)
n.1660A=
c.1032A= (p.Ala344=)
c.3444A= (p.Ala1148=)
c.3441A= (p.Ala1147=)
c.3429A= (p.Ala1143=)
c.3417A= (p.Ala1139=)
c.3384A= (p.Ala1128=)
c.3327A= (p.Ala1109=)
c.3426A= (p.Ala1142=)
c.3402A= (p.Ala1134=)
c.3237A= (p.Ala1079=)
1g.16986151G>ACA338231372ATP13A2c.*70C>T (n.*70C>T)
c.3311C>T (p.Ala1104Val)
n.1659C>T
c.1031C>T (p.Ala344Val)
c.3443C>T (p.Ala1148Val)
c.3440C>T (p.Ala1147Val)
c.3428C>T (p.Ala1143Val)
c.3416C>T (p.Ala1139Val)
c.3383C>T (p.Ala1128Val)
c.3326C>T (p.Ala1109Val)
c.3425C>T (p.Ala1142Val)
c.3401C>T (p.Ala1134Val)
c.3236C>T (p.Ala1079Val)
 gnomAD v4
1g.16986151G>CCA338231376ATP13A2c.*70C>G (n.*70C>G)
c.3311C>G (p.Ala1104Gly)
n.1659C>G
c.1031C>G (p.Ala344Gly)
c.3443C>G (p.Ala1148Gly)
c.3440C>G (p.Ala1147Gly)
c.3428C>G (p.Ala1143Gly)
c.3416C>G (p.Ala1139Gly)
c.3383C>G (p.Ala1128Gly)
c.3326C>G (p.Ala1109Gly)
c.3425C>G (p.Ala1142Gly)
c.3401C>G (p.Ala1134Gly)
c.3236C>G (p.Ala1079Gly)
1g.16986151G>TCA338231373ATP13A2c.*70C>A (n.*70C>A)
c.3311C>A (p.Ala1104Glu)
n.1659C>A
c.1031C>A (p.Ala344Glu)
c.3443C>A (p.Ala1148Glu)
c.3440C>A (p.Ala1147Glu)
c.3428C>A (p.Ala1143Glu)
c.3416C>A (p.Ala1139Glu)
c.3383C>A (p.Ala1128Glu)
c.3326C>A (p.Ala1109Glu)
c.3425C>A (p.Ala1142Glu)
c.3401C>A (p.Ala1134Glu)
c.3236C>A (p.Ala1079Glu)
1g.16986152C>ACA338231378ATP13A2c.*69G>T (n.*69G>T)
c.3310G>T (p.Ala1104Ser)
n.1658G>T
c.1030G>T (p.Ala344Ser)
c.3442G>T (p.Ala1148Ser)
c.3439G>T (p.Ala1147Ser)
c.3427G>T (p.Ala1143Ser)
c.3415G>T (p.Ala1139Ser)
c.3382G>T (p.Ala1128Ser)
c.3325G>T (p.Ala1109Ser)
c.3424G>T (p.Ala1142Ser)
c.3400G>T (p.Ala1134Ser)
c.3235G>T (p.Ala1079Ser)
 gnomAD v4
1g.16986152C>GCA338231380ATP13A2c.*69G>C (n.*69G>C)
c.3310G>C (p.Ala1104Pro)
n.1658G>C
c.1030G>C (p.Ala344Pro)
c.3442G>C (p.Ala1148Pro)
c.3439G>C (p.Ala1147Pro)
c.3427G>C (p.Ala1143Pro)
c.3415G>C (p.Ala1139Pro)
c.3382G>C (p.Ala1128Pro)
c.3325G>C (p.Ala1109Pro)
c.3424G>C (p.Ala1142Pro)
c.3400G>C (p.Ala1134Pro)
c.3235G>C (p.Ala1079Pro)
1g.16986152C>TCA338231382ATP13A2c.*69G>A (n.*69G>A)
c.3310G>A (p.Ala1104Thr)
n.1658G>A
c.1030G>A (p.Ala344Thr)
c.3442G>A (p.Ala1148Thr)
c.3439G>A (p.Ala1147Thr)
c.3427G>A (p.Ala1143Thr)
c.3415G>A (p.Ala1139Thr)
c.3382G>A (p.Ala1128Thr)
c.3325G>A (p.Ala1109Thr)
c.3424G>A (p.Ala1142Thr)
c.3400G>A (p.Ala1134Thr)
c.3235G>A (p.Ala1079Thr)
 gnomAD v4
1g.16986153_16986154delinsTGCA1156048938ATP13A2c.*67_*68delinsCA (n.*67_*68delinsCA)
c.3308_3309delinsCA (p.Pro1103=)
n.1656_1657delinsCA
c.1028_1029delinsCA (p.Pro343=)
c.3440_3441delinsCA (p.Pro1147=)
c.3437_3438delinsCA (p.Pro1146=)
c.3425_3426delinsCA (p.Pro1142=)
c.3413_3414delinsCA (p.Pro1138=)
c.3380_3381delinsCA (p.Pro1127=)
c.3323_3324delinsCA (p.Pro1108=)
c.3422_3423delinsCA (p.Pro1141=)
c.3398_3399delinsCA (p.Pro1133=)
c.3233_3234delinsCA (p.Pro1078=)
1g.16986154G>ACA338231384ATP13A2c.*67C>T (n.*67C>T)
c.3308C>T (p.Pro1103Leu)
n.1656C>T
c.1028C>T (p.Pro343Leu)
c.3440C>T (p.Pro1147Leu)
c.3437C>T (p.Pro1146Leu)
c.3425C>T (p.Pro1142Leu)
c.3413C>T (p.Pro1138Leu)
c.3380C>T (p.Pro1127Leu)
c.3323C>T (p.Pro1108Leu)
c.3422C>T (p.Pro1141Leu)
c.3398C>T (p.Pro1133Leu)
c.3233C>T (p.Pro1078Leu)
1g.16986154G>CCA338231387ATP13A2c.*67C>G (n.*67C>G)
c.3308C>G (p.Pro1103Arg)
n.1656C>G
c.1028C>G (p.Pro343Arg)
c.3440C>G (p.Pro1147Arg)
c.3437C>G (p.Pro1146Arg)
c.3425C>G (p.Pro1142Arg)
c.3413C>G (p.Pro1138Arg)
c.3380C>G (p.Pro1127Arg)
c.3323C>G (p.Pro1108Arg)
c.3422C>G (p.Pro1141Arg)
c.3398C>G (p.Pro1133Arg)
c.3233C>G (p.Pro1078Arg)
1g.16986154G>TCA338231398ATP13A2c.*67C>A (n.*67C>A)
c.3308C>A (p.Pro1103Gln)
n.1656C>A
c.1028C>A (p.Pro343Gln)
c.3440C>A (p.Pro1147Gln)
c.3437C>A (p.Pro1146Gln)
c.3425C>A (p.Pro1142Gln)
c.3413C>A (p.Pro1138Gln)
c.3380C>A (p.Pro1127Gln)
c.3323C>A (p.Pro1108Gln)
c.3422C>A (p.Pro1141Gln)
c.3398C>A (p.Pro1133Gln)
c.3233C>A (p.Pro1078Gln)
 dbSNP
1g.16986154_16986155delinsAACA645512528ATP13A2c.*66_*67delinsTT (n.*66_*67delinsTT)
c.3307_3308delinsTT (p.Pro1103Leu)
n.1655_1656delinsTT
c.1027_1028delinsTT (p.Pro343Leu)
c.3439_3440delinsTT (p.Pro1147Leu)
c.3436_3437delinsTT (p.Pro1146Leu)
c.3424_3425delinsTT (p.Pro1142Leu)
c.3412_3413delinsTT (p.Pro1138Leu)
c.3379_3380delinsTT (p.Pro1127Leu)
c.3322_3323delinsTT (p.Pro1108Leu)
c.3421_3422delinsTT (p.Pro1141Leu)
c.3397_3398delinsTT (p.Pro1133Leu)
c.3232_3233delinsTT (p.Pro1078Leu)
 COSMIC
1g.16986155delCA521449599ATP13A2c.*67del (n.*67del)
c.3308del (p.Pro1103GlnfsTer12)
n.1656del
c.1028del (p.Pro343GlnfsTer12)
c.3440del (p.Pro1147GlnfsTer12)
c.3437del (p.Pro1146GlnfsTer12)
c.3425del (p.Pro1142GlnfsTer12)
c.3413del (p.Pro1138GlnfsTer12)
c.3380del (p.Pro1127GlnfsTer12)
c.3323del (p.Pro1108GlnfsTer12)
c.3422del (p.Pro1141GlnfsTer12)
c.3398del (p.Pro1133GlnfsTer12)
c.3233del (p.Pro1078GlnfsTer12)
 dbSNP gnomAD v2 gnomAD v4
1g.16986155G>ACA338231400ATP13A2c.*66C>T (n.*66C>T)
c.3307C>T (p.Pro1103Ser)
n.1655C>T
c.1027C>T (p.Pro343Ser)
c.3439C>T (p.Pro1147Ser)
c.3436C>T (p.Pro1146Ser)
c.3424C>T (p.Pro1142Ser)
c.3412C>T (p.Pro1138Ser)
c.3379C>T (p.Pro1127Ser)
c.3322C>T (p.Pro1108Ser)
c.3421C>T (p.Pro1141Ser)
c.3397C>T (p.Pro1133Ser)
c.3232C>T (p.Pro1078Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.16986155G>CCA338231402ATP13A2c.*66C>G (n.*66C>G)
c.3307C>G (p.Pro1103Ala)
n.1655C>G
c.1027C>G (p.Pro343Ala)
c.3439C>G (p.Pro1147Ala)
c.3436C>G (p.Pro1146Ala)
c.3424C>G (p.Pro1142Ala)
c.3412C>G (p.Pro1138Ala)
c.3379C>G (p.Pro1127Ala)
c.3322C>G (p.Pro1108Ala)
c.3421C>G (p.Pro1141Ala)
c.3397C>G (p.Pro1133Ala)
c.3232C>G (p.Pro1078Ala)
1g.16986155G=CA1156048955ATP13A2c.*66C= (n.*66C=)
c.3307C= (p.Pro1103=)
n.1655C=
c.1027C= (p.Pro343=)
c.3439C= (p.Pro1147=)
c.3436C= (p.Pro1146=)
c.3424C= (p.Pro1142=)
c.3412C= (p.Pro1138=)
c.3379C= (p.Pro1127=)
c.3322C= (p.Pro1108=)
c.3421C= (p.Pro1141=)
c.3397C= (p.Pro1133=)
c.3232C= (p.Pro1078=)
1g.16986155G>TCA338231408ATP13A2c.*66C>A (n.*66C>A)
c.3307C>A (p.Pro1103Thr)
n.1655C>A
c.1027C>A (p.Pro343Thr)
c.3439C>A (p.Pro1147Thr)
c.3436C>A (p.Pro1146Thr)
c.3424C>A (p.Pro1142Thr)
c.3412C>A (p.Pro1138Thr)
c.3379C>A (p.Pro1127Thr)
c.3322C>A (p.Pro1108Thr)
c.3421C>A (p.Pro1141Thr)
c.3397C>A (p.Pro1133Thr)
c.3232C>A (p.Pro1078Thr)
 gnomAD v4
1g.16986156A>CCA2643667978ATP13A2c.*65T>G (n.*65T>G)
c.3306T>G (p.Ser1102=)
n.1654T>G
c.1026T>G (p.Ser342=)
c.3438T>G (p.Ser1146=)
c.3435T>G (p.Ser1145=)
c.3423T>G (p.Ser1141=)
c.3411T>G (p.Ser1137=)
c.3378T>G (p.Ser1126=)
c.3321T>G (p.Ser1107=)
c.3420T>G (p.Ser1140=)
c.3396T>G (p.Ser1132=)
c.3231T>G (p.Ser1077=)
 gnomAD v4
1g.16986157G>ACA338231411ATP13A2c.*64C>T (n.*64C>T)
c.3305C>T (p.Ser1102Phe)
n.1653C>T
c.1025C>T (p.Ser342Phe)
c.3437C>T (p.Ser1146Phe)
c.3434C>T (p.Ser1145Phe)
c.3422C>T (p.Ser1141Phe)
c.3410C>T (p.Ser1137Phe)
c.3377C>T (p.Ser1126Phe)
c.3320C>T (p.Ser1107Phe)
c.3419C>T (p.Ser1140Phe)
c.3395C>T (p.Ser1132Phe)
c.3230C>T (p.Ser1077Phe)
 dbSNP
1g.16986157G>CCA18624462ATP13A2c.*64C>G (n.*64C>G)
c.3305C>G (p.Ser1102Cys)
n.1653C>G
c.1025C>G (p.Ser342Cys)
c.3437C>G (p.Ser1146Cys)
c.3434C>G (p.Ser1145Cys)
c.3422C>G (p.Ser1141Cys)
c.3410C>G (p.Ser1137Cys)
c.3377C>G (p.Ser1126Cys)
c.3320C>G (p.Ser1107Cys)
c.3419C>G (p.Ser1140Cys)
c.3395C>G (p.Ser1132Cys)
c.3230C>G (p.Ser1077Cys)
 dbSNP
1g.16986157G=CA1156048961ATP13A2c.*64C= (n.*64C=)
c.3305C= (p.Ser1102=)
n.1653C=
c.1025C= (p.Ser342=)
c.3437C= (p.Ser1146=)
c.3434C= (p.Ser1145=)
c.3422C= (p.Ser1141=)
c.3410C= (p.Ser1137=)
c.3377C= (p.Ser1126=)
c.3320C= (p.Ser1107=)
c.3419C= (p.Ser1140=)
c.3395C= (p.Ser1132=)
c.3230C= (p.Ser1077=)
1g.16986157G>TCA338231417ATP13A2c.*64C>A (n.*64C>A)
c.3305C>A (p.Ser1102Tyr)
n.1653C>A
c.1025C>A (p.Ser342Tyr)
c.3437C>A (p.Ser1146Tyr)
c.3434C>A (p.Ser1145Tyr)
c.3422C>A (p.Ser1141Tyr)
c.3410C>A (p.Ser1137Tyr)
c.3377C>A (p.Ser1126Tyr)
c.3320C>A (p.Ser1107Tyr)
c.3419C>A (p.Ser1140Tyr)
c.3395C>A (p.Ser1132Tyr)
c.3230C>A (p.Ser1077Tyr)
1g.16986158A>CCA338231431ATP13A2c.*63T>G (n.*63T>G)
c.3304T>G (p.Ser1102Ala)
n.1652T>G
c.1024T>G (p.Ser342Ala)
c.3436T>G (p.Ser1146Ala)
c.3433T>G (p.Ser1145Ala)
c.3421T>G (p.Ser1141Ala)
c.3409T>G (p.Ser1137Ala)
c.3376T>G (p.Ser1126Ala)
c.3319T>G (p.Ser1107Ala)
c.3418T>G (p.Ser1140Ala)
c.3394T>G (p.Ser1132Ala)
c.3229T>G (p.Ser1077Ala)
1g.16986158A>GCA338231420ATP13A2c.*63T>C (n.*63T>C)
c.3304T>C (p.Ser1102Pro)
n.1652T>C
c.1024T>C (p.Ser342Pro)
c.3436T>C (p.Ser1146Pro)
c.3433T>C (p.Ser1145Pro)
c.3421T>C (p.Ser1141Pro)
c.3409T>C (p.Ser1137Pro)
c.3376T>C (p.Ser1126Pro)
c.3319T>C (p.Ser1107Pro)
c.3418T>C (p.Ser1140Pro)
c.3394T>C (p.Ser1132Pro)
c.3229T>C (p.Ser1077Pro)
1g.16986158A>TCA338231424ATP13A2c.*63T>A (n.*63T>A)
c.3304T>A (p.Ser1102Thr)
n.1652T>A
c.1024T>A (p.Ser342Thr)
c.3436T>A (p.Ser1146Thr)
c.3433T>A (p.Ser1145Thr)
c.3421T>A (p.Ser1141Thr)
c.3409T>A (p.Ser1137Thr)
c.3376T>A (p.Ser1126Thr)
c.3319T>A (p.Ser1107Thr)
c.3418T>A (p.Ser1140Thr)
c.3394T>A (p.Ser1132Thr)
c.3229T>A (p.Ser1077Thr)
1g.16986159G>CCA2643667980ATP13A2c.*62C>G (n.*62C>G)
c.3303C>G (p.Pro1101=)
n.1651C>G
c.1023C>G (p.Pro341=)
c.3435C>G (p.Pro1145=)
c.3432C>G (p.Pro1144=)
c.3420C>G (p.Pro1140=)
c.3408C>G (p.Pro1136=)
c.3375C>G (p.Pro1125=)
c.3318C>G (p.Pro1106=)
c.3417C>G (p.Pro1139=)
c.3393C>G (p.Pro1131=)
c.3228C>G (p.Pro1076=)
 gnomAD v4
1g.16986160G>ACA636437ATP13A2c.*61C>T (n.*61C>T)
c.3302C>T (p.Pro1101Leu)
n.1650C>T
c.1022C>T (p.Pro341Leu)
c.3434C>T (p.Pro1145Leu)
c.3431C>T (p.Pro1144Leu)
c.3419C>T (p.Pro1140Leu)
c.3407C>T (p.Pro1136Leu)
c.3374C>T (p.Pro1125Leu)
c.3317C>T (p.Pro1106Leu)
c.3416C>T (p.Pro1139Leu)
c.3392C>T (p.Pro1131Leu)
c.3227C>T (p.Pro1076Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986160G>CCA338231432ATP13A2c.*61C>G (n.*61C>G)
c.3302C>G (p.Pro1101Arg)
n.1650C>G
c.1022C>G (p.Pro341Arg)
c.3434C>G (p.Pro1145Arg)
c.3431C>G (p.Pro1144Arg)
c.3419C>G (p.Pro1140Arg)
c.3407C>G (p.Pro1136Arg)
c.3374C>G (p.Pro1125Arg)
c.3317C>G (p.Pro1106Arg)
c.3416C>G (p.Pro1139Arg)
c.3392C>G (p.Pro1131Arg)
c.3227C>G (p.Pro1076Arg)
1g.16986160G=CA1156048979ATP13A2c.*61C= (n.*61C=)
c.3302C= (p.Pro1101=)
n.1650C=
c.1022C= (p.Pro341=)
c.3434C= (p.Pro1145=)
c.3431C= (p.Pro1144=)
c.3419C= (p.Pro1140=)
c.3407C= (p.Pro1136=)
c.3374C= (p.Pro1125=)
c.3317C= (p.Pro1106=)
c.3416C= (p.Pro1139=)
c.3392C= (p.Pro1131=)
c.3227C= (p.Pro1076=)
1g.16986160G>TCA338231433ATP13A2c.*61C>A (n.*61C>A)
c.3302C>A (p.Pro1101His)
n.1650C>A
c.1022C>A (p.Pro341His)
c.3434C>A (p.Pro1145His)
c.3431C>A (p.Pro1144His)
c.3419C>A (p.Pro1140His)
c.3407C>A (p.Pro1136His)
c.3374C>A (p.Pro1125His)
c.3317C>A (p.Pro1106His)
c.3416C>A (p.Pro1139His)
c.3392C>A (p.Pro1131His)
c.3227C>A (p.Pro1076His)
 COSMIC

Number of alleles fetched