Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.16997028_16997050delCA2643674552ATP13A2c.1171_1193del (p.Val391ArgfsTer25)
c.1156_1178del (p.Val386ArgfsTer25)
n.779_801del
n.310_332del
c.331_353del (p.Val111ArgfsTer19)
c.310_332del (p.Val104SerfsTer21)
c.1168_1190del (p.Val390ArgfsTer25)
c.1144_1166del (p.Val382ArgfsTer25)
c.1153_1175del (p.Val385ArgfsTer25)
c.1129_1151del (p.Val377ArgfsTer25)
c.1141_1163del (p.Val381ArgfsTer25)
 gnomAD v4
1g.16997024G>ACA416062730ATP13A2c.1191C>T (p.Arg397=)
c.1176C>T (p.Arg392=)
n.799C>T
n.330C>T
c.351C>T (p.Arg117=)
c.330C>T (p.Arg110=)
c.1188C>T (p.Arg396=)
c.1164C>T (p.Arg388=)
c.1173C>T (p.Arg391=)
c.1149C>T (p.Arg383=)
c.1161C>T (p.Arg387=)
1g.16997024G>CCA416062735ATP13A2c.1191C>G (p.Arg397=)
c.1176C>G (p.Arg392=)
n.799C>G
n.330C>G
c.351C>G (p.Arg117=)
c.330C>G (p.Arg110=)
c.1188C>G (p.Arg396=)
c.1164C>G (p.Arg388=)
c.1173C>G (p.Arg391=)
c.1149C>G (p.Arg383=)
c.1161C>G (p.Arg387=)
1g.16997024G>TCA416062737ATP13A2c.1191C>A (p.Arg397=)
c.1176C>A (p.Arg392=)
n.799C>A
n.330C>A
c.351C>A (p.Arg117=)
c.330C>A (p.Arg110=)
c.1188C>A (p.Arg396=)
c.1164C>A (p.Arg388=)
c.1173C>A (p.Arg391=)
c.1149C>A (p.Arg383=)
c.1161C>A (p.Arg387=)
1g.16997025C>ACA338254953ATP13A2c.1190G>T (p.Arg397Leu)
c.1175G>T (p.Arg392Leu)
n.798G>T
n.329G>T
c.350G>T (p.Arg117Leu)
c.329G>T (p.Arg110Leu)
c.1187G>T (p.Arg396Leu)
c.1163G>T (p.Arg388Leu)
c.1172G>T (p.Arg391Leu)
c.1148G>T (p.Arg383Leu)
c.1160G>T (p.Arg387Leu)
 gnomAD v4
1g.16997025C=CA1156032572ATP13A2c.1190G= (p.Arg397=)
c.1175G= (p.Arg392=)
n.798G=
n.329G=
c.350G= (p.Arg117=)
c.329G= (p.Arg110=)
c.1187G= (p.Arg396=)
c.1163G= (p.Arg388=)
c.1172G= (p.Arg391=)
c.1148G= (p.Arg383=)
c.1160G= (p.Arg387=)
1g.16997025C>GCA338254954ATP13A2c.1190G>C (p.Arg397Pro)
c.1175G>C (p.Arg392Pro)
n.798G>C
n.329G>C
c.350G>C (p.Arg117Pro)
c.329G>C (p.Arg110Pro)
c.1187G>C (p.Arg396Pro)
c.1163G>C (p.Arg388Pro)
c.1172G>C (p.Arg391Pro)
c.1148G>C (p.Arg383Pro)
c.1160G>C (p.Arg387Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.16997025C>TCA637339ATP13A2c.1190G>A (p.Arg397His)
c.1175G>A (p.Arg392His)
n.798G>A
n.329G>A
c.350G>A (p.Arg117His)
c.329G>A (p.Arg110His)
c.1187G>A (p.Arg396His)
c.1163G>A (p.Arg388His)
c.1172G>A (p.Arg391His)
c.1148G>A (p.Arg383His)
c.1160G>A (p.Arg387His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.16997026G>ACA637340ATP13A2c.1189C>T (p.Arg397Cys)
c.1174C>T (p.Arg392Cys)
n.797C>T
n.328C>T
c.349C>T (p.Arg117Cys)
c.328C>T (p.Arg110Cys)
c.1186C>T (p.Arg396Cys)
c.1162C>T (p.Arg388Cys)
c.1171C>T (p.Arg391Cys)
c.1147C>T (p.Arg383Cys)
c.1159C>T (p.Arg387Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.16997026G>CCA338254955ATP13A2c.1189C>G (p.Arg397Gly)
c.1174C>G (p.Arg392Gly)
n.797C>G
n.328C>G
c.349C>G (p.Arg117Gly)
c.328C>G (p.Arg110Gly)
c.1186C>G (p.Arg396Gly)
c.1162C>G (p.Arg388Gly)
c.1171C>G (p.Arg391Gly)
c.1147C>G (p.Arg383Gly)
c.1159C>G (p.Arg387Gly)
1g.16997026G=CA1148872598ATP13A2c.1189C= (p.Arg397=)
c.1174C= (p.Arg392=)
n.797C=
n.328C=
c.349C= (p.Arg117=)
c.328C= (p.Arg110=)
c.1186C= (p.Arg396=)
c.1162C= (p.Arg388=)
c.1171C= (p.Arg391=)
c.1147C= (p.Arg383=)
c.1159C= (p.Arg387=)
1g.16997026G>TCA338254956ATP13A2c.1189C>A (p.Arg397Ser)
c.1174C>A (p.Arg392Ser)
n.797C>A
n.328C>A
c.349C>A (p.Arg117Ser)
c.328C>A (p.Arg110Ser)
c.1186C>A (p.Arg396Ser)
c.1162C>A (p.Arg388Ser)
c.1171C>A (p.Arg391Ser)
c.1147C>A (p.Arg383Ser)
c.1159C>A (p.Arg387Ser)
 gnomAD v4 COSMIC COSMIC
1g.16997027G>ACA637341ATP13A2c.1188C>T (p.Thr396=)
c.1173C>T (p.Thr391=)
n.796C>T
n.327C>T
c.348C>T (p.Thr116=)
c.327C>T (p.Thr109=)
c.1185C>T (p.Thr395=)
c.1161C>T (p.Thr387=)
c.1170C>T (p.Thr390=)
c.1146C>T (p.Thr382=)
c.1158C>T (p.Thr386=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16997027G>CCA416062751ATP13A2c.1188C>G (p.Thr396=)
c.1173C>G (p.Thr391=)
n.796C>G
n.327C>G
c.348C>G (p.Thr116=)
c.327C>G (p.Thr109=)
c.1185C>G (p.Thr395=)
c.1161C>G (p.Thr387=)
c.1170C>G (p.Thr390=)
c.1146C>G (p.Thr382=)
c.1158C>G (p.Thr386=)
1g.16997027G=CA1143637545ATP13A2c.1188C= (p.Thr396=)
c.1173C= (p.Thr391=)
n.796C=
n.327C=
c.348C= (p.Thr116=)
c.327C= (p.Thr109=)
c.1185C= (p.Thr395=)
c.1161C= (p.Thr387=)
c.1170C= (p.Thr390=)
c.1146C= (p.Thr382=)
c.1158C= (p.Thr386=)
1g.16997027G>TCA416062758ATP13A2c.1188C>A (p.Thr396=)
c.1173C>A (p.Thr391=)
n.796C>A
n.327C>A
c.348C>A (p.Thr116=)
c.327C>A (p.Thr109=)
c.1185C>A (p.Thr395=)
c.1161C>A (p.Thr387=)
c.1170C>A (p.Thr390=)
c.1146C>A (p.Thr382=)
c.1158C>A (p.Thr386=)
1g.16997028G>ACA338254958ATP13A2c.1187C>T (p.Thr396Ile)
c.1172C>T (p.Thr391Ile)
n.795C>T
n.326C>T
c.347C>T (p.Thr116Ile)
c.326C>T (p.Thr109Ile)
c.1184C>T (p.Thr395Ile)
c.1160C>T (p.Thr387Ile)
c.1169C>T (p.Thr390Ile)
c.1145C>T (p.Thr382Ile)
c.1157C>T (p.Thr386Ile)
1g.16997028G>CCA338254957ATP13A2c.1187C>G (p.Thr396Ser)
c.1172C>G (p.Thr391Ser)
n.795C>G
n.326C>G
c.347C>G (p.Thr116Ser)
c.326C>G (p.Thr109Ser)
c.1184C>G (p.Thr395Ser)
c.1160C>G (p.Thr387Ser)
c.1169C>G (p.Thr390Ser)
c.1145C>G (p.Thr382Ser)
c.1157C>G (p.Thr386Ser)
1g.16997028G>TCA338254959ATP13A2c.1187C>A (p.Thr396Asn)
c.1172C>A (p.Thr391Asn)
n.795C>A
n.326C>A
c.347C>A (p.Thr116Asn)
c.326C>A (p.Thr109Asn)
c.1184C>A (p.Thr395Asn)
c.1160C>A (p.Thr387Asn)
c.1169C>A (p.Thr390Asn)
c.1145C>A (p.Thr382Asn)
c.1157C>A (p.Thr386Asn)
1g.16997029T>ACA338254960ATP13A2c.1186A>T (p.Thr396Ser)
c.1171A>T (p.Thr391Ser)
n.794A>T
n.325A>T
c.346A>T (p.Thr116Ser)
c.325A>T (p.Thr109Ser)
c.1183A>T (p.Thr395Ser)
c.1159A>T (p.Thr387Ser)
c.1168A>T (p.Thr390Ser)
c.1144A>T (p.Thr382Ser)
c.1156A>T (p.Thr386Ser)
1g.16997029T>CCA338254962ATP13A2c.1186A>G (p.Thr396Ala)
c.1171A>G (p.Thr391Ala)
n.794A>G
n.325A>G
c.346A>G (p.Thr116Ala)
c.325A>G (p.Thr109Ala)
c.1183A>G (p.Thr395Ala)
c.1159A>G (p.Thr387Ala)
c.1168A>G (p.Thr390Ala)
c.1144A>G (p.Thr382Ala)
c.1156A>G (p.Thr386Ala)
1g.16997029T>GCA338254961ATP13A2c.1186A>C (p.Thr396Pro)
c.1171A>C (p.Thr391Pro)
n.794A>C
n.325A>C
c.346A>C (p.Thr116Pro)
c.325A>C (p.Thr109Pro)
c.1183A>C (p.Thr395Pro)
c.1159A>C (p.Thr387Pro)
c.1168A>C (p.Thr390Pro)
c.1144A>C (p.Thr382Pro)
c.1156A>C (p.Thr386Pro)
1g.16997030C>ACA416062783ATP13A2c.1185G>T (p.Val395=)
c.1170G>T (p.Val390=)
n.793G>T
n.324G>T
c.345G>T (p.Val115=)
c.324G>T (p.Val108=)
c.1182G>T (p.Val394=)
c.1158G>T (p.Val386=)
c.1167G>T (p.Val389=)
c.1143G>T (p.Val381=)
c.1155G>T (p.Val385=)
1g.16997030C>GCA416062786ATP13A2c.1185G>C (p.Val395=)
c.1170G>C (p.Val390=)
n.793G>C
n.324G>C
c.345G>C (p.Val115=)
c.324G>C (p.Val108=)
c.1182G>C (p.Val394=)
c.1158G>C (p.Val386=)
c.1167G>C (p.Val389=)
c.1143G>C (p.Val381=)
c.1155G>C (p.Val385=)
1g.16997030C>TCA416062789ATP13A2c.1185G>A (p.Val395=)
c.1170G>A (p.Val390=)
n.793G>A
n.324G>A
c.345G>A (p.Val115=)
c.324G>A (p.Val108=)
c.1182G>A (p.Val394=)
c.1158G>A (p.Val386=)
c.1167G>A (p.Val389=)
c.1143G>A (p.Val381=)
c.1155G>A (p.Val385=)
1g.16997031A>CCA338254963ATP13A2c.1184T>G (p.Val395Gly)
c.1169T>G (p.Val390Gly)
n.792T>G
n.323T>G
c.344T>G (p.Val115Gly)
c.323T>G (p.Val108Gly)
c.1181T>G (p.Val394Gly)
c.1157T>G (p.Val386Gly)
c.1166T>G (p.Val389Gly)
c.1142T>G (p.Val381Gly)
c.1154T>G (p.Val385Gly)
1g.16997031A>GCA338254964ATP13A2c.1184T>C (p.Val395Ala)
c.1169T>C (p.Val390Ala)
n.792T>C
n.323T>C
c.344T>C (p.Val115Ala)
c.323T>C (p.Val108Ala)
c.1181T>C (p.Val394Ala)
c.1157T>C (p.Val386Ala)
c.1166T>C (p.Val389Ala)
c.1142T>C (p.Val381Ala)
c.1154T>C (p.Val385Ala)
1g.16997031A>TCA338254965ATP13A2c.1184T>A (p.Val395Glu)
c.1169T>A (p.Val390Glu)
n.792T>A
n.323T>A
c.344T>A (p.Val115Glu)
c.323T>A (p.Val108Glu)
c.1181T>A (p.Val394Glu)
c.1157T>A (p.Val386Glu)
c.1166T>A (p.Val389Glu)
c.1142T>A (p.Val381Glu)
c.1154T>A (p.Val385Glu)
1g.16997032C>ACA338254966ATP13A2c.1183G>T (p.Val395Leu)
c.1168G>T (p.Val390Leu)
n.791G>T
n.322G>T
c.343G>T (p.Val115Leu)
c.322G>T (p.Val108Leu)
c.1180G>T (p.Val394Leu)
c.1156G>T (p.Val386Leu)
c.1165G>T (p.Val389Leu)
c.1141G>T (p.Val381Leu)
c.1153G>T (p.Val385Leu)
1g.16997032C>GCA338254967ATP13A2c.1183G>C (p.Val395Leu)
c.1168G>C (p.Val390Leu)
n.791G>C
n.322G>C
c.343G>C (p.Val115Leu)
c.322G>C (p.Val108Leu)
c.1180G>C (p.Val394Leu)
c.1156G>C (p.Val386Leu)
c.1165G>C (p.Val389Leu)
c.1141G>C (p.Val381Leu)
c.1153G>C (p.Val385Leu)
1g.16997032C>TCA338254968ATP13A2c.1183G>A (p.Val395Met)
c.1168G>A (p.Val390Met)
n.791G>A
n.322G>A
c.343G>A (p.Val115Met)
c.322G>A (p.Val108Met)
c.1180G>A (p.Val394Met)
c.1156G>A (p.Val386Met)
c.1165G>A (p.Val389Met)
c.1141G>A (p.Val381Met)
c.1153G>A (p.Val385Met)
1g.16997033C>ACA637342ATP13A2c.1182G>T (p.Val394=)
c.1167G>T (p.Val389=)
n.790G>T
n.321G>T
c.342G>T (p.Val114=)
c.321G>T (p.Val107=)
c.1179G>T (p.Val393=)
c.1155G>T (p.Val385=)
c.1164G>T (p.Val388=)
c.1140G>T (p.Val380=)
c.1152G>T (p.Val384=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16997033C=CA1143843055ATP13A2c.1182G= (p.Val394=)
c.1167G= (p.Val389=)
n.790G=
n.321G=
c.342G= (p.Val114=)
c.321G= (p.Val107=)
c.1179G= (p.Val393=)
c.1155G= (p.Val385=)
c.1164G= (p.Val388=)
c.1140G= (p.Val380=)
c.1152G= (p.Val384=)
1g.16997033C>GCA416062796ATP13A2c.1182G>C (p.Val394=)
c.1167G>C (p.Val389=)
n.790G>C
n.321G>C
c.342G>C (p.Val114=)
c.321G>C (p.Val107=)
c.1179G>C (p.Val393=)
c.1155G>C (p.Val385=)
c.1164G>C (p.Val388=)
c.1140G>C (p.Val380=)
c.1152G>C (p.Val384=)
1g.16997033C>TCA416062799ATP13A2c.1182G>A (p.Val394=)
c.1167G>A (p.Val389=)
n.790G>A
n.321G>A
c.342G>A (p.Val114=)
c.321G>A (p.Val107=)
c.1179G>A (p.Val393=)
c.1155G>A (p.Val385=)
c.1164G>A (p.Val388=)
c.1140G>A (p.Val380=)
c.1152G>A (p.Val384=)
1g.16997034A=CA1149128337ATP13A2c.1181T= (p.Val394=)
c.1166T= (p.Val389=)
n.789T=
n.320T=
c.341T= (p.Val114=)
c.320T= (p.Val107=)
c.1178T= (p.Val393=)
c.1154T= (p.Val385=)
c.1163T= (p.Val388=)
c.1139T= (p.Val380=)
c.1151T= (p.Val384=)
1g.16997034A>CCA338254969ATP13A2c.1181T>G (p.Val394Gly)
c.1166T>G (p.Val389Gly)
n.789T>G
n.320T>G
c.341T>G (p.Val114Gly)
c.320T>G (p.Val107Gly)
c.1178T>G (p.Val393Gly)
c.1154T>G (p.Val385Gly)
c.1163T>G (p.Val388Gly)
c.1139T>G (p.Val380Gly)
c.1151T>G (p.Val384Gly)
1g.16997034A>GCA637343ATP13A2c.1181T>C (p.Val394Ala)
c.1166T>C (p.Val389Ala)
n.789T>C
n.320T>C
c.341T>C (p.Val114Ala)
c.320T>C (p.Val107Ala)
c.1178T>C (p.Val393Ala)
c.1154T>C (p.Val385Ala)
c.1163T>C (p.Val388Ala)
c.1139T>C (p.Val380Ala)
c.1151T>C (p.Val384Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16997034A>TCA338254970ATP13A2c.1181T>A (p.Val394Glu)
c.1166T>A (p.Val389Glu)
n.789T>A
n.320T>A
c.341T>A (p.Val114Glu)
c.320T>A (p.Val107Glu)
c.1178T>A (p.Val393Glu)
c.1154T>A (p.Val385Glu)
c.1163T>A (p.Val388Glu)
c.1139T>A (p.Val380Glu)
c.1151T>A (p.Val384Glu)
1g.16997035C>ACA338254973ATP13A2c.1180G>T (p.Val394Leu)
c.1165G>T (p.Val389Leu)
n.788G>T
n.319G>T
c.340G>T (p.Val114Leu)
c.319G>T (p.Val107Leu)
c.1177G>T (p.Val393Leu)
c.1153G>T (p.Val385Leu)
c.1162G>T (p.Val388Leu)
c.1138G>T (p.Val380Leu)
c.1150G>T (p.Val384Leu)
1g.16997035C>GCA338254972ATP13A2c.1180G>C (p.Val394Leu)
c.1165G>C (p.Val389Leu)
n.788G>C
n.319G>C
c.340G>C (p.Val114Leu)
c.319G>C (p.Val107Leu)
c.1177G>C (p.Val393Leu)
c.1153G>C (p.Val385Leu)
c.1162G>C (p.Val388Leu)
c.1138G>C (p.Val380Leu)
c.1150G>C (p.Val384Leu)
1g.16997035C>TCA338254971ATP13A2c.1180G>A (p.Val394Met)
c.1165G>A (p.Val389Met)
n.788G>A
n.319G>A
c.340G>A (p.Val114Met)
c.319G>A (p.Val107Met)
c.1177G>A (p.Val393Met)
c.1153G>A (p.Val385Met)
c.1162G>A (p.Val388Met)
c.1138G>A (p.Val380Met)
c.1150G>A (p.Val384Met)
1g.16997036T>ACA416062813ATP13A2c.1179A>T (p.Ala393=)
c.1164A>T (p.Ala388=)
n.787A>T
n.318A>T
c.339A>T (p.Ala113=)
c.318A>T (p.Ala106=)
c.1176A>T (p.Ala392=)
c.1152A>T (p.Ala384=)
c.1161A>T (p.Ala387=)
c.1137A>T (p.Ala379=)
c.1149A>T (p.Ala383=)
1g.16997036T>CCA416062817ATP13A2c.1179A>G (p.Ala393=)
c.1164A>G (p.Ala388=)
n.787A>G
n.318A>G
c.339A>G (p.Ala113=)
c.318A>G (p.Ala106=)
c.1176A>G (p.Ala392=)
c.1152A>G (p.Ala384=)
c.1161A>G (p.Ala387=)
c.1137A>G (p.Ala379=)
c.1149A>G (p.Ala383=)
 gnomAD v4
1g.16997036T>GCA416062814ATP13A2c.1179A>C (p.Ala393=)
c.1164A>C (p.Ala388=)
n.787A>C
n.318A>C
c.339A>C (p.Ala113=)
c.318A>C (p.Ala106=)
c.1176A>C (p.Ala392=)
c.1152A>C (p.Ala384=)
c.1161A>C (p.Ala387=)
c.1137A>C (p.Ala379=)
c.1149A>C (p.Ala383=)
 dbSNP gnomAD v3 gnomAD v4
1g.16997036T=CA1156032593ATP13A2c.1179A= (p.Ala393=)
c.1164A= (p.Ala388=)
n.787A=
n.318A=
c.339A= (p.Ala113=)
c.318A= (p.Ala106=)
c.1176A= (p.Ala392=)
c.1152A= (p.Ala384=)
c.1161A= (p.Ala387=)
c.1137A= (p.Ala379=)
c.1149A= (p.Ala383=)
1g.16997037G>ACA637344ATP13A2c.1178C>T (p.Ala393Val)
c.1163C>T (p.Ala388Val)
n.786C>T
n.317C>T
c.338C>T (p.Ala113Val)
c.317C>T (p.Ala106Val)
c.1175C>T (p.Ala392Val)
c.1151C>T (p.Ala384Val)
c.1160C>T (p.Ala387Val)
c.1136C>T (p.Ala379Val)
c.1148C>T (p.Ala383Val)
 dbSNP ExAC
1g.16997037G>CCA338254974ATP13A2c.1178C>G (p.Ala393Gly)
c.1163C>G (p.Ala388Gly)
n.786C>G
n.317C>G
c.338C>G (p.Ala113Gly)
c.317C>G (p.Ala106Gly)
c.1175C>G (p.Ala392Gly)
c.1151C>G (p.Ala384Gly)
c.1160C>G (p.Ala387Gly)
c.1136C>G (p.Ala379Gly)
c.1148C>G (p.Ala383Gly)
1g.16997037G=CA1156032601ATP13A2c.1178C= (p.Ala393=)
c.1163C= (p.Ala388=)
n.786C=
n.317C=
c.338C= (p.Ala113=)
c.317C= (p.Ala106=)
c.1175C= (p.Ala392=)
c.1151C= (p.Ala384=)
c.1160C= (p.Ala387=)
c.1136C= (p.Ala379=)
c.1148C= (p.Ala383=)
1g.16997037G>TCA338254975ATP13A2c.1178C>A (p.Ala393Glu)
c.1163C>A (p.Ala388Glu)
n.786C>A
n.317C>A
c.338C>A (p.Ala113Glu)
c.317C>A (p.Ala106Glu)
c.1175C>A (p.Ala392Glu)
c.1151C>A (p.Ala384Glu)
c.1160C>A (p.Ala387Glu)
c.1136C>A (p.Ala379Glu)
c.1148C>A (p.Ala383Glu)
1g.16997038C>ACA338254976ATP13A2c.1177G>T (p.Ala393Ser)
c.1162G>T (p.Ala388Ser)
n.785G>T
n.316G>T
c.337G>T (p.Ala113Ser)
c.316G>T (p.Ala106Ser)
c.1174G>T (p.Ala392Ser)
c.1150G>T (p.Ala384Ser)
c.1159G>T (p.Ala387Ser)
c.1135G>T (p.Ala379Ser)
c.1147G>T (p.Ala383Ser)
 dbSNP
1g.16997038C=CA1156032608ATP13A2c.1177G= (p.Ala393=)
c.1162G= (p.Ala388=)
n.785G=
n.316G=
c.337G= (p.Ala113=)
c.316G= (p.Ala106=)
c.1174G= (p.Ala392=)
c.1150G= (p.Ala384=)
c.1159G= (p.Ala387=)
c.1135G= (p.Ala379=)
c.1147G= (p.Ala383=)
1g.16997038C>GCA338254977ATP13A2c.1177G>C (p.Ala393Pro)
c.1162G>C (p.Ala388Pro)
n.785G>C
n.316G>C
c.337G>C (p.Ala113Pro)
c.316G>C (p.Ala106Pro)
c.1174G>C (p.Ala392Pro)
c.1150G>C (p.Ala384Pro)
c.1159G>C (p.Ala387Pro)
c.1135G>C (p.Ala379Pro)
c.1147G>C (p.Ala383Pro)
1g.16997038C>TCA338254978ATP13A2c.1177G>A (p.Ala393Thr)
c.1162G>A (p.Ala388Thr)
n.785G>A
n.316G>A
c.337G>A (p.Ala113Thr)
c.316G>A (p.Ala106Thr)
c.1174G>A (p.Ala392Thr)
c.1150G>A (p.Ala384Thr)
c.1159G>A (p.Ala387Thr)
c.1135G>A (p.Ala379Thr)
c.1147G>A (p.Ala383Thr)
1g.16997039C>ACA416062822ATP13A2c.1176G>T (p.Leu392=)
c.1161G>T (p.Leu387=)
n.784G>T
n.315G>T
c.336G>T (p.Leu112=)
c.315G>T (p.Leu105=)
c.1173G>T (p.Leu391=)
c.1149G>T (p.Leu383=)
c.1158G>T (p.Leu386=)
c.1134G>T (p.Leu378=)
c.1146G>T (p.Leu382=)
1g.16997039C>GCA416062825ATP13A2c.1176G>C (p.Leu392=)
c.1161G>C (p.Leu387=)
n.784G>C
n.315G>C
c.336G>C (p.Leu112=)
c.315G>C (p.Leu105=)
c.1173G>C (p.Leu391=)
c.1149G>C (p.Leu383=)
c.1158G>C (p.Leu386=)
c.1134G>C (p.Leu378=)
c.1146G>C (p.Leu382=)
1g.16997039C>TCA416062827ATP13A2c.1176G>A (p.Leu392=)
c.1161G>A (p.Leu387=)
n.784G>A
n.315G>A
c.336G>A (p.Leu112=)
c.315G>A (p.Leu105=)
c.1173G>A (p.Leu391=)
c.1149G>A (p.Leu383=)
c.1158G>A (p.Leu386=)
c.1134G>A (p.Leu378=)
c.1146G>A (p.Leu382=)
1g.16997040A>CCA338254979ATP13A2c.1175T>G (p.Leu392Arg)
c.1160T>G (p.Leu387Arg)
n.783T>G
n.314T>G
c.335T>G (p.Leu112Arg)
c.314T>G (p.Leu105Arg)
c.1172T>G (p.Leu391Arg)
c.1148T>G (p.Leu383Arg)
c.1157T>G (p.Leu386Arg)
c.1133T>G (p.Leu378Arg)
c.1145T>G (p.Leu382Arg)
1g.16997040A>GCA338254980ATP13A2c.1175T>C (p.Leu392Pro)
c.1160T>C (p.Leu387Pro)
n.783T>C
n.314T>C
c.335T>C (p.Leu112Pro)
c.314T>C (p.Leu105Pro)
c.1172T>C (p.Leu391Pro)
c.1148T>C (p.Leu383Pro)
c.1157T>C (p.Leu386Pro)
c.1133T>C (p.Leu378Pro)
c.1145T>C (p.Leu382Pro)
1g.16997040A>TCA338254981ATP13A2c.1175T>A (p.Leu392Gln)
c.1160T>A (p.Leu387Gln)
n.783T>A
n.314T>A
c.335T>A (p.Leu112Gln)
c.314T>A (p.Leu105Gln)
c.1172T>A (p.Leu391Gln)
c.1148T>A (p.Leu383Gln)
c.1157T>A (p.Leu386Gln)
c.1133T>A (p.Leu378Gln)
c.1145T>A (p.Leu382Gln)
1g.16997041G>ACA416062839ATP13A2c.1174C>T (p.Leu392=)
c.1159C>T (p.Leu387=)
n.782C>T
n.313C>T
c.334C>T (p.Leu112=)
c.313C>T (p.Leu105=)
c.1171C>T (p.Leu391=)
c.1147C>T (p.Leu383=)
c.1156C>T (p.Leu386=)
c.1132C>T (p.Leu378=)
c.1144C>T (p.Leu382=)
1g.16997041G>CCA338254982ATP13A2c.1174C>G (p.Leu392Val)
c.1159C>G (p.Leu387Val)
n.782C>G
n.313C>G
c.334C>G (p.Leu112Val)
c.313C>G (p.Leu105Val)
c.1171C>G (p.Leu391Val)
c.1147C>G (p.Leu383Val)
c.1156C>G (p.Leu386Val)
c.1132C>G (p.Leu378Val)
c.1144C>G (p.Leu382Val)
1g.16997041G>TCA338254983ATP13A2c.1174C>A (p.Leu392Met)
c.1159C>A (p.Leu387Met)
n.782C>A
n.313C>A
c.334C>A (p.Leu112Met)
c.313C>A (p.Leu105Met)
c.1171C>A (p.Leu391Met)
c.1147C>A (p.Leu383Met)
c.1156C>A (p.Leu386Met)
c.1132C>A (p.Leu378Met)
c.1144C>A (p.Leu382Met)
1g.16997042G>ACA416062842ATP13A2c.1173C>T (p.Val391=)
c.1158C>T (p.Val386=)
n.781C>T
n.312C>T
c.333C>T (p.Val111=)
c.312C>T (p.Val104=)
c.1170C>T (p.Val390=)
c.1146C>T (p.Val382=)
c.1155C>T (p.Val385=)
c.1131C>T (p.Val377=)
c.1143C>T (p.Val381=)
1g.16997042G>CCA416062844ATP13A2c.1173C>G (p.Val391=)
c.1158C>G (p.Val386=)
n.781C>G
n.312C>G
c.333C>G (p.Val111=)
c.312C>G (p.Val104=)
c.1170C>G (p.Val390=)
c.1146C>G (p.Val382=)
c.1155C>G (p.Val385=)
c.1131C>G (p.Val377=)
c.1143C>G (p.Val381=)
1g.16997042G>TCA416062845ATP13A2c.1173C>A (p.Val391=)
c.1158C>A (p.Val386=)
n.781C>A
n.312C>A
c.333C>A (p.Val111=)
c.312C>A (p.Val104=)
c.1170C>A (p.Val390=)
c.1146C>A (p.Val382=)
c.1155C>A (p.Val385=)
c.1131C>A (p.Val377=)
c.1143C>A (p.Val381=)
1g.16997043A>CCA338254985ATP13A2c.1172T>G (p.Val391Gly)
c.1157T>G (p.Val386Gly)
n.780T>G
n.311T>G
c.332T>G (p.Val111Gly)
c.311T>G (p.Val104Gly)
c.1169T>G (p.Val390Gly)
c.1145T>G (p.Val382Gly)
c.1154T>G (p.Val385Gly)
c.1130T>G (p.Val377Gly)
c.1142T>G (p.Val381Gly)
1g.16997043A>GCA338254986ATP13A2c.1172T>C (p.Val391Ala)
c.1157T>C (p.Val386Ala)
n.780T>C
n.311T>C
c.332T>C (p.Val111Ala)
c.311T>C (p.Val104Ala)
c.1169T>C (p.Val390Ala)
c.1145T>C (p.Val382Ala)
c.1154T>C (p.Val385Ala)
c.1130T>C (p.Val377Ala)
c.1142T>C (p.Val381Ala)
1g.16997043A>TCA338254984ATP13A2c.1172T>A (p.Val391Asp)
c.1157T>A (p.Val386Asp)
n.780T>A
n.311T>A
c.332T>A (p.Val111Asp)
c.311T>A (p.Val104Asp)
c.1169T>A (p.Val390Asp)
c.1145T>A (p.Val382Asp)
c.1154T>A (p.Val385Asp)
c.1130T>A (p.Val377Asp)
c.1142T>A (p.Val381Asp)
1g.16997044C>ACA338254987ATP13A2c.1171G>T (p.Val391Phe)
c.1156G>T (p.Val386Phe)
n.779G>T
n.310G>T
c.331G>T (p.Val111Phe)
c.310G>T (p.Val104Phe)
c.1168G>T (p.Val390Phe)
c.1144G>T (p.Val382Phe)
c.1153G>T (p.Val385Phe)
c.1129G>T (p.Val377Phe)
c.1141G>T (p.Val381Phe)
 gnomAD v4
1g.16997044C=CA1141314258ATP13A2c.1171G= (p.Val391=)
c.1156G= (p.Val386=)
n.779G=
n.310G=
c.331G= (p.Val111=)
c.310G= (p.Val104=)
c.1168G= (p.Val390=)
c.1144G= (p.Val382=)
c.1153G= (p.Val385=)
c.1129G= (p.Val377=)
c.1141G= (p.Val381=)
1g.16997044C>GCA338254988ATP13A2c.1171G>C (p.Val391Leu)
c.1156G>C (p.Val386Leu)
n.779G>C
n.310G>C
c.331G>C (p.Val111Leu)
c.310G>C (p.Val104Leu)
c.1168G>C (p.Val390Leu)
c.1144G>C (p.Val382Leu)
c.1153G>C (p.Val385Leu)
c.1129G>C (p.Val377Leu)
c.1141G>C (p.Val381Leu)
1g.16997044C>TCA637345ATP13A2c.1171G>A (p.Val391Ile)
c.1156G>A (p.Val386Ile)
n.779G>A
n.310G>A
c.331G>A (p.Val111Ile)
c.310G>A (p.Val104Ile)
c.1168G>A (p.Val390Ile)
c.1144G>A (p.Val382Ile)
c.1153G>A (p.Val385Ile)
c.1129G>A (p.Val377Ile)
c.1141G>A (p.Val381Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.16997045G>ACA637346ATP13A2c.1170C>T (p.His390=)
c.1155C>T (p.His385=)
n.778C>T
n.309C>T
c.330C>T (p.His110=)
c.309C>T (p.His103=)
c.1167C>T (p.His389=)
c.1143C>T (p.His381=)
c.1152C>T (p.His384=)
c.1128C>T (p.His376=)
c.1140C>T (p.His380=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.16997045G>CCA338254989ATP13A2c.1170C>G (p.His390Gln)
c.1155C>G (p.His385Gln)
n.778C>G
n.309C>G
c.330C>G (p.His110Gln)
c.309C>G (p.His103Gln)
c.1167C>G (p.His389Gln)
c.1143C>G (p.His381Gln)
c.1152C>G (p.His384Gln)
c.1128C>G (p.His376Gln)
c.1140C>G (p.His380Gln)
1g.16997045G=CA1143496964ATP13A2c.1170C= (p.His390=)
c.1155C= (p.His385=)
n.778C=
n.309C=
c.330C= (p.His110=)
c.309C= (p.His103=)
c.1167C= (p.His389=)
c.1143C= (p.His381=)
c.1152C= (p.His384=)
c.1128C= (p.His376=)
c.1140C= (p.His380=)
1g.16997045G>TCA338254990ATP13A2c.1170C>A (p.His390Gln)
c.1155C>A (p.His385Gln)
n.778C>A
n.309C>A
c.330C>A (p.His110Gln)
c.309C>A (p.His103Gln)
c.1167C>A (p.His389Gln)
c.1143C>A (p.His381Gln)
c.1152C>A (p.His384Gln)
c.1128C>A (p.His376Gln)
c.1140C>A (p.His380Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.16997046T>ACA338254991ATP13A2c.1169A>T (p.His390Leu)
c.1154A>T (p.His385Leu)
n.777A>T
n.308A>T
c.329A>T (p.His110Leu)
c.308A>T (p.His103Leu)
c.1166A>T (p.His389Leu)
c.1142A>T (p.His381Leu)
c.1151A>T (p.His384Leu)
c.1127A>T (p.His376Leu)
c.1139A>T (p.His380Leu)
1g.16997046T>CCA338254992ATP13A2c.1169A>G (p.His390Arg)
c.1154A>G (p.His385Arg)
n.777A>G
n.308A>G
c.329A>G (p.His110Arg)
c.308A>G (p.His103Arg)
c.1166A>G (p.His389Arg)
c.1142A>G (p.His381Arg)
c.1151A>G (p.His384Arg)
c.1127A>G (p.His376Arg)
c.1139A>G (p.His380Arg)
1g.16997046T>GCA637347ATP13A2c.1169A>C (p.His390Pro)
c.1154A>C (p.His385Pro)
n.777A>C
n.308A>C
c.329A>C (p.His110Pro)
c.308A>C (p.His103Pro)
c.1166A>C (p.His389Pro)
c.1142A>C (p.His381Pro)
c.1151A>C (p.His384Pro)
c.1127A>C (p.His376Pro)
c.1139A>C (p.His380Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16997046T=CA1144096988ATP13A2c.1169A= (p.His390=)
c.1154A= (p.His385=)
n.777A=
n.308A=
c.329A= (p.His110=)
c.308A= (p.His103=)
c.1166A= (p.His389=)
c.1142A= (p.His381=)
c.1151A= (p.His384=)
c.1127A= (p.His376=)
c.1139A= (p.His380=)
1g.16997047G>ACA338254993ATP13A2c.1168C>T (p.His390Tyr)
c.1153C>T (p.His385Tyr)
n.776C>T
n.307C>T
c.328C>T (p.His110Tyr)
c.307C>T (p.His103Tyr)
c.1165C>T (p.His389Tyr)
c.1141C>T (p.His381Tyr)
c.1150C>T (p.His384Tyr)
c.1126C>T (p.His376Tyr)
c.1138C>T (p.His380Tyr)
1g.16997047G>CCA338254994ATP13A2c.1168C>G (p.His390Asp)
c.1153C>G (p.His385Asp)
n.776C>G
n.307C>G
c.328C>G (p.His110Asp)
c.307C>G (p.His103Asp)
c.1165C>G (p.His389Asp)
c.1141C>G (p.His381Asp)
c.1150C>G (p.His384Asp)
c.1126C>G (p.His376Asp)
c.1138C>G (p.His380Asp)
1g.16997047G>TCA338254995ATP13A2c.1168C>A (p.His390Asn)
c.1153C>A (p.His385Asn)
n.776C>A
n.307C>A
c.328C>A (p.His110Asn)
c.307C>A (p.His103Asn)
c.1165C>A (p.His389Asn)
c.1141C>A (p.His381Asn)
c.1150C>A (p.His384Asn)
c.1126C>A (p.His376Asn)
c.1138C>A (p.His380Asn)
 COSMIC COSMIC
1g.16997048C>ACA416062926ATP13A2c.1167G>T (p.Pro389=)
c.1152G>T (p.Pro384=)
n.775G>T
n.306G>T
c.327G>T (p.Pro109=)
c.306G>T (p.Pro102=)
c.1164G>T (p.Pro388=)
c.1140G>T (p.Pro380=)
c.1149G>T (p.Pro383=)
c.1125G>T (p.Pro375=)
c.1137G>T (p.Pro379=)
1g.16997048C=CA1156032630ATP13A2c.1167G= (p.Pro389=)
c.1152G= (p.Pro384=)
n.775G=
n.306G=
c.327G= (p.Pro109=)
c.306G= (p.Pro102=)
c.1164G= (p.Pro388=)
c.1140G= (p.Pro380=)
c.1149G= (p.Pro383=)
c.1125G= (p.Pro375=)
c.1137G= (p.Pro379=)
1g.16997048C>GCA416062925ATP13A2c.1167G>C (p.Pro389=)
c.1152G>C (p.Pro384=)
n.775G>C
n.306G>C
c.327G>C (p.Pro109=)
c.306G>C (p.Pro102=)
c.1164G>C (p.Pro388=)
c.1140G>C (p.Pro380=)
c.1149G>C (p.Pro383=)
c.1125G>C (p.Pro375=)
c.1137G>C (p.Pro379=)
1g.16997048C>TCA637348ATP13A2c.1167G>A (p.Pro389=)
c.1152G>A (p.Pro384=)
n.775G>A
n.306G>A
c.327G>A (p.Pro109=)
c.306G>A (p.Pro102=)
c.1164G>A (p.Pro388=)
c.1140G>A (p.Pro380=)
c.1149G>A (p.Pro383=)
c.1125G>A (p.Pro375=)
c.1137G>A (p.Pro379=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16997049G>ACA637349ATP13A2c.1166C>T (p.Pro389Leu)
c.1151C>T (p.Pro384Leu)
n.774C>T
n.305C>T
c.326C>T (p.Pro109Leu)
c.305C>T (p.Pro102Leu)
c.1163C>T (p.Pro388Leu)
c.1139C>T (p.Pro380Leu)
c.1148C>T (p.Pro383Leu)
c.1124C>T (p.Pro375Leu)
c.1136C>T (p.Pro379Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16997049G>CCA338254997ATP13A2c.1166C>G (p.Pro389Arg)
c.1151C>G (p.Pro384Arg)
n.774C>G
n.305C>G
c.326C>G (p.Pro109Arg)
c.305C>G (p.Pro102Arg)
c.1163C>G (p.Pro388Arg)
c.1139C>G (p.Pro380Arg)
c.1148C>G (p.Pro383Arg)
c.1124C>G (p.Pro375Arg)
c.1136C>G (p.Pro379Arg)
1g.16997049G=CA1140638549ATP13A2c.1166C= (p.Pro389=)
c.1151C= (p.Pro384=)
n.774C=
n.305C=
c.326C= (p.Pro109=)
c.305C= (p.Pro102=)
c.1163C= (p.Pro388=)
c.1139C= (p.Pro380=)
c.1148C= (p.Pro383=)
c.1124C= (p.Pro375=)
c.1136C= (p.Pro379=)
1g.16997049G>TCA338254996ATP13A2c.1166C>A (p.Pro389Gln)
c.1151C>A (p.Pro384Gln)
n.774C>A
n.305C>A
c.326C>A (p.Pro109Gln)
c.305C>A (p.Pro102Gln)
c.1163C>A (p.Pro388Gln)
c.1139C>A (p.Pro380Gln)
c.1148C>A (p.Pro383Gln)
c.1124C>A (p.Pro375Gln)
c.1136C>A (p.Pro379Gln)
1g.16997050G>ACA338254998ATP13A2c.1165C>T (p.Pro389Ser)
c.1150C>T (p.Pro384Ser)
n.773C>T
n.304C>T
c.325C>T (p.Pro109Ser)
c.304C>T (p.Pro102Ser)
c.1162C>T (p.Pro388Ser)
c.1138C>T (p.Pro380Ser)
c.1147C>T (p.Pro383Ser)
c.1123C>T (p.Pro375Ser)
c.1135C>T (p.Pro379Ser)
1g.16997050G>CCA338254999ATP13A2c.1165C>G (p.Pro389Ala)
c.1150C>G (p.Pro384Ala)
n.773C>G
n.304C>G
c.325C>G (p.Pro109Ala)
c.304C>G (p.Pro102Ala)
c.1162C>G (p.Pro388Ala)
c.1138C>G (p.Pro380Ala)
c.1147C>G (p.Pro383Ala)
c.1123C>G (p.Pro375Ala)
c.1135C>G (p.Pro379Ala)
1g.16997050G>TCA338255000ATP13A2c.1165C>A (p.Pro389Thr)
c.1150C>A (p.Pro384Thr)
n.773C>A
n.304C>A
c.325C>A (p.Pro109Thr)
c.304C>A (p.Pro102Thr)
c.1162C>A (p.Pro388Thr)
c.1138C>A (p.Pro380Thr)
c.1147C>A (p.Pro383Thr)
c.1123C>A (p.Pro375Thr)
c.1135C>A (p.Pro379Thr)
1g.16997051T>ACA416062938ATP13A2c.1164A>T (p.Gly388=)
c.1149A>T (p.Gly383=)
n.772A>T
n.303A>T
c.324A>T (p.Gly108=)
c.303A>T (p.Gly101=)
c.1161A>T (p.Gly387=)
c.1137A>T (p.Gly379=)
c.1146A>T (p.Gly382=)
c.1122A>T (p.Gly374=)
c.1134A>T (p.Gly378=)
1g.16997051T>CCA416062942ATP13A2c.1164A>G (p.Gly388=)
c.1149A>G (p.Gly383=)
n.772A>G
n.303A>G
c.324A>G (p.Gly108=)
c.303A>G (p.Gly101=)
c.1161A>G (p.Gly387=)
c.1137A>G (p.Gly379=)
c.1146A>G (p.Gly382=)
c.1122A>G (p.Gly374=)
c.1134A>G (p.Gly378=)
 gnomAD v4
1g.16997051T>GCA416062943ATP13A2c.1164A>C (p.Gly388=)
c.1149A>C (p.Gly383=)
n.772A>C
n.303A>C
c.324A>C (p.Gly108=)
c.303A>C (p.Gly101=)
c.1161A>C (p.Gly387=)
c.1137A>C (p.Gly379=)
c.1146A>C (p.Gly382=)
c.1122A>C (p.Gly374=)
c.1134A>C (p.Gly378=)
1g.16997052C>ACA338255001ATP13A2c.1163G>T (p.Gly388Val)
c.1148G>T (p.Gly383Val)
n.771G>T
n.302G>T
c.323G>T (p.Gly108Val)
c.302G>T (p.Gly101Val)
c.1160G>T (p.Gly387Val)
c.1136G>T (p.Gly379Val)
c.1145G>T (p.Gly382Val)
c.1121G>T (p.Gly374Val)
c.1133G>T (p.Gly378Val)
1g.16997052C=CA1156032636ATP13A2c.1163G= (p.Gly388=)
c.1148G= (p.Gly383=)
n.771G=
n.302G=
c.323G= (p.Gly108=)
c.302G= (p.Gly101=)
c.1160G= (p.Gly387=)
c.1136G= (p.Gly379=)
c.1145G= (p.Gly382=)
c.1121G= (p.Gly374=)
c.1133G= (p.Gly378=)
1g.16997052C>GCA338255002ATP13A2c.1163G>C (p.Gly388Ala)
c.1148G>C (p.Gly383Ala)
n.771G>C
n.302G>C
c.323G>C (p.Gly108Ala)
c.302G>C (p.Gly101Ala)
c.1160G>C (p.Gly387Ala)
c.1136G>C (p.Gly379Ala)
c.1145G>C (p.Gly382Ala)
c.1121G>C (p.Gly374Ala)
c.1133G>C (p.Gly378Ala)
1g.16997052C>TCA637350ATP13A2c.1163G>A (p.Gly388Glu)
c.1148G>A (p.Gly383Glu)
n.771G>A
n.302G>A
c.323G>A (p.Gly108Glu)
c.302G>A (p.Gly101Glu)
c.1160G>A (p.Gly387Glu)
c.1136G>A (p.Gly379Glu)
c.1145G>A (p.Gly382Glu)
c.1121G>A (p.Gly374Glu)
c.1133G>A (p.Gly378Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16997053C>ACA637351ATP13A2c.1162G>T (p.Gly388Ter)
c.1147G>T (p.Gly383Ter)
n.770G>T
n.301G>T
c.322G>T (p.Gly108Ter)
c.301G>T (p.Gly101Ter)
c.1159G>T (p.Gly387Ter)
c.1135G>T (p.Gly379Ter)
c.1144G>T (p.Gly382Ter)
c.1120G>T (p.Gly374Ter)
c.1132G>T (p.Gly378Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16997053C=CA1156032644ATP13A2c.1162G= (p.Gly388=)
c.1147G= (p.Gly383=)
n.770G=
n.301G=
c.322G= (p.Gly108=)
c.301G= (p.Gly101=)
c.1159G= (p.Gly387=)
c.1135G= (p.Gly379=)
c.1144G= (p.Gly382=)
c.1120G= (p.Gly374=)
c.1132G= (p.Gly378=)
1g.16997053C>GCA338255003ATP13A2c.1162G>C (p.Gly388Arg)
c.1147G>C (p.Gly383Arg)
n.770G>C
n.301G>C
c.322G>C (p.Gly108Arg)
c.301G>C (p.Gly101Arg)
c.1159G>C (p.Gly387Arg)
c.1135G>C (p.Gly379Arg)
c.1144G>C (p.Gly382Arg)
c.1120G>C (p.Gly374Arg)
c.1132G>C (p.Gly378Arg)
1g.16997053C>TCA338255004ATP13A2c.1162G>A (p.Gly388Arg)
c.1147G>A (p.Gly383Arg)
n.770G>A
n.301G>A
c.322G>A (p.Gly108Arg)
c.301G>A (p.Gly101Arg)
c.1159G>A (p.Gly387Arg)
c.1135G>A (p.Gly379Arg)
c.1144G>A (p.Gly382Arg)
c.1120G>A (p.Gly374Arg)
c.1132G>A (p.Gly378Arg)
1g.16997054C>ACA416062951ATP13A2c.1161G>T (p.Val387=)
c.1146G>T (p.Val382=)
n.769G>T
n.300G>T
c.321G>T (p.Val107=)
c.300G>T (p.Val100=)
c.1158G>T (p.Val386=)
c.1134G>T (p.Val378=)
c.1143G>T (p.Val381=)
c.1119G>T (p.Val373=)
c.1131G>T (p.Val377=)
 dbSNP gnomAD v3 gnomAD v4
1g.16997054C=CA1156032646ATP13A2c.1161G= (p.Val387=)
c.1146G= (p.Val382=)
n.769G=
n.300G=
c.321G= (p.Val107=)
c.300G= (p.Val100=)
c.1158G= (p.Val386=)
c.1134G= (p.Val378=)
c.1143G= (p.Val381=)
c.1119G= (p.Val373=)
c.1131G= (p.Val377=)
1g.16997054C>GCA416062954ATP13A2c.1161G>C (p.Val387=)
c.1146G>C (p.Val382=)
n.769G>C
n.300G>C
c.321G>C (p.Val107=)
c.300G>C (p.Val100=)
c.1158G>C (p.Val386=)
c.1134G>C (p.Val378=)
c.1143G>C (p.Val381=)
c.1119G>C (p.Val373=)
c.1131G>C (p.Val377=)
1g.16997054C>TCA416062966ATP13A2c.1161G>A (p.Val387=)
c.1146G>A (p.Val382=)
n.769G>A
n.300G>A
c.321G>A (p.Val107=)
c.300G>A (p.Val100=)
c.1158G>A (p.Val386=)
c.1134G>A (p.Val378=)
c.1143G>A (p.Val381=)
c.1119G>A (p.Val373=)
c.1131G>A (p.Val377=)
1g.16997055A>CCA338255005ATP13A2c.1160T>G (p.Val387Gly)
c.1145T>G (p.Val382Gly)
n.768T>G
n.299T>G
c.320T>G (p.Val107Gly)
c.299T>G (p.Val100Gly)
c.1157T>G (p.Val386Gly)
c.1133T>G (p.Val378Gly)
c.1142T>G (p.Val381Gly)
c.1118T>G (p.Val373Gly)
c.1130T>G (p.Val377Gly)
1g.16997055A>GCA338255006ATP13A2c.1160T>C (p.Val387Ala)
c.1145T>C (p.Val382Ala)
n.768T>C
n.299T>C
c.320T>C (p.Val107Ala)
c.299T>C (p.Val100Ala)
c.1157T>C (p.Val386Ala)
c.1133T>C (p.Val378Ala)
c.1142T>C (p.Val381Ala)
c.1118T>C (p.Val373Ala)
c.1130T>C (p.Val377Ala)
1g.16997055A>TCA338255007ATP13A2c.1160T>A (p.Val387Glu)
c.1145T>A (p.Val382Glu)
n.768T>A
n.299T>A
c.320T>A (p.Val107Glu)
c.299T>A (p.Val100Glu)
c.1157T>A (p.Val386Glu)
c.1133T>A (p.Val378Glu)
c.1142T>A (p.Val381Glu)
c.1118T>A (p.Val373Glu)
c.1130T>A (p.Val377Glu)
1g.16997056delCA2643674559ATP13A2c.1159del (p.Val387TrpfsTer9)
c.1144del (p.Val382TrpfsTer9)
n.767del
n.298del
c.319del (p.Val107TrpfsTer9)
c.298del (p.Val100TrpfsTer9)
c.1156del (p.Val386TrpfsTer9)
c.1132del (p.Val378TrpfsTer9)
c.1141del (p.Val381TrpfsTer9)
c.1117del (p.Val373TrpfsTer9)
c.1129del (p.Val377TrpfsTer9)
 gnomAD v4
1g.16997056C>ACA338255009ATP13A2c.1159G>T (p.Val387Leu)
c.1144G>T (p.Val382Leu)
n.767G>T
n.298G>T
c.319G>T (p.Val107Leu)
c.298G>T (p.Val100Leu)
c.1156G>T (p.Val386Leu)
c.1132G>T (p.Val378Leu)
c.1141G>T (p.Val381Leu)
c.1117G>T (p.Val373Leu)
c.1129G>T (p.Val377Leu)
1g.16997056C=CA1156032653ATP13A2c.1159G= (p.Val387=)
c.1144G= (p.Val382=)
n.767G=
n.298G=
c.319G= (p.Val107=)
c.298G= (p.Val100=)
c.1156G= (p.Val386=)
c.1132G= (p.Val378=)
c.1141G= (p.Val381=)
c.1117G= (p.Val373=)
c.1129G= (p.Val377=)
1g.16997056C>GCA338255010ATP13A2c.1159G>C (p.Val387Leu)
c.1144G>C (p.Val382Leu)
n.767G>C
n.298G>C
c.319G>C (p.Val107Leu)
c.298G>C (p.Val100Leu)
c.1156G>C (p.Val386Leu)
c.1132G>C (p.Val378Leu)
c.1141G>C (p.Val381Leu)
c.1117G>C (p.Val373Leu)
c.1129G>C (p.Val377Leu)
1g.16997056C>TCA338255008ATP13A2c.1159G>A (p.Val387Met)
c.1144G>A (p.Val382Met)
n.767G>A
n.298G>A
c.319G>A (p.Val107Met)
c.298G>A (p.Val100Met)
c.1156G>A (p.Val386Met)
c.1132G>A (p.Val378Met)
c.1141G>A (p.Val381Met)
c.1117G>A (p.Val373Met)
c.1129G>A (p.Val377Met)
 dbSNP
1g.16997057A=CA1156032656ATP13A2c.1158T= (p.Tyr386=)
c.1143T= (p.Tyr381=)
n.766T=
n.297T=
c.318T= (p.Tyr106=)
c.297T= (p.Tyr99=)
c.1155T= (p.Tyr385=)
c.1131T= (p.Tyr377=)
c.1140T= (p.Tyr380=)
c.1116T= (p.Tyr372=)
c.1128T= (p.Tyr376=)
1g.16997057A>CCA338255011ATP13A2c.1158T>G (p.Tyr386Ter)
c.1143T>G (p.Tyr381Ter)
n.766T>G
n.297T>G
c.318T>G (p.Tyr106Ter)
c.297T>G (p.Tyr99Ter)
c.1155T>G (p.Tyr385Ter)
c.1131T>G (p.Tyr377Ter)
c.1140T>G (p.Tyr380Ter)
c.1116T>G (p.Tyr372Ter)
c.1128T>G (p.Tyr376Ter)
1g.16997057A>GCA416063002ATP13A2c.1158T>C (p.Tyr386=)
c.1143T>C (p.Tyr381=)
n.766T>C
n.297T>C
c.318T>C (p.Tyr106=)
c.297T>C (p.Tyr99=)
c.1155T>C (p.Tyr385=)
c.1131T>C (p.Tyr377=)
c.1140T>C (p.Tyr380=)
c.1116T>C (p.Tyr372=)
c.1128T>C (p.Tyr376=)
 dbSNP
1g.16997057A>TCA338255012ATP13A2c.1158T>A (p.Tyr386Ter)
c.1143T>A (p.Tyr381Ter)
n.766T>A
n.297T>A
c.318T>A (p.Tyr106Ter)
c.297T>A (p.Tyr99Ter)
c.1155T>A (p.Tyr385Ter)
c.1131T>A (p.Tyr377Ter)
c.1140T>A (p.Tyr380Ter)
c.1116T>A (p.Tyr372Ter)
c.1128T>A (p.Tyr376Ter)
1g.16997058T>ACA18638307ATP13A2c.1157A>T (p.Tyr386Phe)
c.1142A>T (p.Tyr381Phe)
n.765A>T
n.296A>T
c.317A>T (p.Tyr106Phe)
c.296A>T (p.Tyr99Phe)
c.1154A>T (p.Tyr385Phe)
c.1130A>T (p.Tyr377Phe)
c.1139A>T (p.Tyr380Phe)
c.1115A>T (p.Tyr372Phe)
c.1127A>T (p.Tyr376Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.16997058T>CCA637352ATP13A2c.1157A>G (p.Tyr386Cys)
c.1142A>G (p.Tyr381Cys)
n.765A>G
n.296A>G
c.317A>G (p.Tyr106Cys)
c.296A>G (p.Tyr99Cys)
c.1154A>G (p.Tyr385Cys)
c.1130A>G (p.Tyr377Cys)
c.1139A>G (p.Tyr380Cys)
c.1115A>G (p.Tyr372Cys)
c.1127A>G (p.Tyr376Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16997058T>GCA338255013ATP13A2c.1157A>C (p.Tyr386Ser)
c.1142A>C (p.Tyr381Ser)
n.765A>C
n.296A>C
c.317A>C (p.Tyr106Ser)
c.296A>C (p.Tyr99Ser)
c.1154A>C (p.Tyr385Ser)
c.1130A>C (p.Tyr377Ser)
c.1139A>C (p.Tyr380Ser)
c.1115A>C (p.Tyr372Ser)
c.1127A>C (p.Tyr376Ser)
1g.16997058T=CA1156032663ATP13A2c.1157A= (p.Tyr386=)
c.1142A= (p.Tyr381=)
n.765A=
n.296A=
c.317A= (p.Tyr106=)
c.296A= (p.Tyr99=)
c.1154A= (p.Tyr385=)
c.1130A= (p.Tyr377=)
c.1139A= (p.Tyr380=)
c.1115A= (p.Tyr372=)
c.1127A= (p.Tyr376=)
1g.16997059A>CCA338255016ATP13A2c.1156T>G (p.Tyr386Asp)
c.1141T>G (p.Tyr381Asp)
n.764T>G
n.295T>G
c.316T>G (p.Tyr106Asp)
c.295T>G (p.Tyr99Asp)
c.1153T>G (p.Tyr385Asp)
c.1129T>G (p.Tyr377Asp)
c.1138T>G (p.Tyr380Asp)
c.1114T>G (p.Tyr372Asp)
c.1126T>G (p.Tyr376Asp)
1g.16997059A>GCA338255015ATP13A2c.1156T>C (p.Tyr386His)
c.1141T>C (p.Tyr381His)
n.764T>C
n.295T>C
c.316T>C (p.Tyr106His)
c.295T>C (p.Tyr99His)
c.1153T>C (p.Tyr385His)
c.1129T>C (p.Tyr377His)
c.1138T>C (p.Tyr380His)
c.1114T>C (p.Tyr372His)
c.1126T>C (p.Tyr376His)
 gnomAD v4
1g.16997059A>TCA338255014ATP13A2c.1156T>A (p.Tyr386Asn)
c.1141T>A (p.Tyr381Asn)
n.764T>A
n.295T>A
c.316T>A (p.Tyr106Asn)
c.295T>A (p.Tyr99Asn)
c.1153T>A (p.Tyr385Asn)
c.1129T>A (p.Tyr377Asn)
c.1138T>A (p.Tyr380Asn)
c.1114T>A (p.Tyr372Asn)
c.1126T>A (p.Tyr376Asn)
1g.16997060G>ACA416063021ATP13A2c.1155C>T (p.Ala385=)
c.1140C>T (p.Ala380=)
n.763C>T
n.294C>T
c.315C>T (p.Ala105=)
c.294C>T (p.Ala98=)
c.1152C>T (p.Ala384=)
c.1128C>T (p.Ala376=)
c.1137C>T (p.Ala379=)
c.1113C>T (p.Ala371=)
c.1125C>T (p.Ala375=)
 dbSNP
1g.16997060G>CCA416063025ATP13A2c.1155C>G (p.Ala385=)
c.1140C>G (p.Ala380=)
n.763C>G
n.294C>G
c.315C>G (p.Ala105=)
c.294C>G (p.Ala98=)
c.1152C>G (p.Ala384=)
c.1128C>G (p.Ala376=)
c.1137C>G (p.Ala379=)
c.1113C>G (p.Ala371=)
c.1125C>G (p.Ala375=)
1g.16997060G=CA1156032671ATP13A2c.1155C= (p.Ala385=)
c.1140C= (p.Ala380=)
n.763C=
n.294C=
c.315C= (p.Ala105=)
c.294C= (p.Ala98=)
c.1152C= (p.Ala384=)
c.1128C= (p.Ala376=)
c.1137C= (p.Ala379=)
c.1113C= (p.Ala371=)
c.1125C= (p.Ala375=)
1g.16997060G>TCA416063024ATP13A2c.1155C>A (p.Ala385=)
c.1140C>A (p.Ala380=)
n.763C>A
n.294C>A
c.315C>A (p.Ala105=)
c.294C>A (p.Ala98=)
c.1152C>A (p.Ala384=)
c.1128C>A (p.Ala376=)
c.1137C>A (p.Ala379=)
c.1113C>A (p.Ala371=)
c.1125C>A (p.Ala375=)
1g.16997061G>ACA338255017ATP13A2c.1154C>T (p.Ala385Val)
c.1139C>T (p.Ala380Val)
n.762C>T
n.293C>T
c.314C>T (p.Ala105Val)
c.293C>T (p.Ala98Val)
c.1151C>T (p.Ala384Val)
c.1127C>T (p.Ala376Val)
c.1136C>T (p.Ala379Val)
c.1112C>T (p.Ala371Val)
c.1124C>T (p.Ala375Val)
 dbSNP gnomAD v4
1g.16997061G>CCA338255018ATP13A2c.1154C>G (p.Ala385Gly)
c.1139C>G (p.Ala380Gly)
n.762C>G
n.293C>G
c.314C>G (p.Ala105Gly)
c.293C>G (p.Ala98Gly)
c.1151C>G (p.Ala384Gly)
c.1127C>G (p.Ala376Gly)
c.1136C>G (p.Ala379Gly)
c.1112C>G (p.Ala371Gly)
c.1124C>G (p.Ala375Gly)
1g.16997061G=CA1156032676ATP13A2c.1154C= (p.Ala385=)
c.1139C= (p.Ala380=)
n.762C=
n.293C=
c.314C= (p.Ala105=)
c.293C= (p.Ala98=)
c.1151C= (p.Ala384=)
c.1127C= (p.Ala376=)
c.1136C= (p.Ala379=)
c.1112C= (p.Ala371=)
c.1124C= (p.Ala375=)
1g.16997061G>TCA637353ATP13A2c.1154C>A (p.Ala385Asp)
c.1139C>A (p.Ala380Asp)
n.762C>A
n.293C>A
c.314C>A (p.Ala105Asp)
c.293C>A (p.Ala98Asp)
c.1151C>A (p.Ala384Asp)
c.1127C>A (p.Ala376Asp)
c.1136C>A (p.Ala379Asp)
c.1112C>A (p.Ala371Asp)
c.1124C>A (p.Ala375Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16997062C>ACA338255019ATP13A2c.1153G>T (p.Ala385Ser)
c.1138G>T (p.Ala380Ser)
n.761G>T
n.292G>T
c.313G>T (p.Ala105Ser)
c.292G>T (p.Ala98Ser)
c.1150G>T (p.Ala384Ser)
c.1126G>T (p.Ala376Ser)
c.1135G>T (p.Ala379Ser)
c.1111G>T (p.Ala371Ser)
c.1123G>T (p.Ala375Ser)
1g.16997062C>GCA338255020ATP13A2c.1153G>C (p.Ala385Pro)
c.1138G>C (p.Ala380Pro)
n.761G>C
n.292G>C
c.313G>C (p.Ala105Pro)
c.292G>C (p.Ala98Pro)
c.1150G>C (p.Ala384Pro)
c.1126G>C (p.Ala376Pro)
c.1135G>C (p.Ala379Pro)
c.1111G>C (p.Ala371Pro)
c.1123G>C (p.Ala375Pro)
 gnomAD v4
1g.16997062C>TCA338255021ATP13A2c.1153G>A (p.Ala385Thr)
c.1138G>A (p.Ala380Thr)
n.761G>A
n.292G>A
c.313G>A (p.Ala105Thr)
c.292G>A (p.Ala98Thr)
c.1150G>A (p.Ala384Thr)
c.1126G>A (p.Ala376Thr)
c.1135G>A (p.Ala379Thr)
c.1111G>A (p.Ala371Thr)
c.1123G>A (p.Ala375Thr)
1g.16997063C>ACA416063038ATP13A2c.1152G>T (p.Arg384=)
c.1137G>T (p.Arg379=)
n.760G>T
n.291G>T
c.312G>T (p.Arg104=)
c.291G>T (p.Arg97=)
c.1149G>T (p.Arg383=)
c.1125G>T (p.Arg375=)
c.1134G>T (p.Arg378=)
c.1110G>T (p.Arg370=)
c.1122G>T (p.Arg374=)
 dbSNP gnomAD v3 gnomAD v4
1g.16997063C=CA1156032685ATP13A2c.1152G= (p.Arg384=)
c.1137G= (p.Arg379=)
n.760G=
n.291G=
c.312G= (p.Arg104=)
c.291G= (p.Arg97=)
c.1149G= (p.Arg383=)
c.1125G= (p.Arg375=)
c.1134G= (p.Arg378=)
c.1110G= (p.Arg370=)
c.1122G= (p.Arg374=)
1g.16997063C>GCA416063036ATP13A2c.1152G>C (p.Arg384=)
c.1137G>C (p.Arg379=)
n.760G>C
n.291G>C
c.312G>C (p.Arg104=)
c.291G>C (p.Arg97=)
c.1149G>C (p.Arg383=)
c.1125G>C (p.Arg375=)
c.1134G>C (p.Arg378=)
c.1110G>C (p.Arg370=)
c.1122G>C (p.Arg374=)
1g.16997063C>TCA416063032ATP13A2c.1152G>A (p.Arg384=)
c.1137G>A (p.Arg379=)
n.760G>A
n.291G>A
c.312G>A (p.Arg104=)
c.291G>A (p.Arg97=)
c.1149G>A (p.Arg383=)
c.1125G>A (p.Arg375=)
c.1134G>A (p.Arg378=)
c.1110G>A (p.Arg370=)
c.1122G>A (p.Arg374=)
1g.16997064C>ACA338255023ATP13A2c.1151G>T (p.Arg384Leu)
c.1136G>T (p.Arg379Leu)
n.759G>T
n.290G>T
c.311G>T (p.Arg104Leu)
c.290G>T (p.Arg97Leu)
c.1148G>T (p.Arg383Leu)
c.1124G>T (p.Arg375Leu)
c.1133G>T (p.Arg378Leu)
c.1109G>T (p.Arg370Leu)
c.1121G>T (p.Arg374Leu)
1g.16997064C=CA1141933929ATP13A2c.1151G= (p.Arg384=)
c.1136G= (p.Arg379=)
n.759G=
n.290G=
c.311G= (p.Arg104=)
c.290G= (p.Arg97=)
c.1148G= (p.Arg383=)
c.1124G= (p.Arg375=)
c.1133G= (p.Arg378=)
c.1109G= (p.Arg370=)
c.1121G= (p.Arg374=)
1g.16997064C>GCA338255022ATP13A2c.1151G>C (p.Arg384Pro)
c.1136G>C (p.Arg379Pro)
n.759G>C
n.290G>C
c.311G>C (p.Arg104Pro)
c.290G>C (p.Arg97Pro)
c.1148G>C (p.Arg383Pro)
c.1124G>C (p.Arg375Pro)
c.1133G>C (p.Arg378Pro)
c.1109G>C (p.Arg370Pro)
c.1121G>C (p.Arg374Pro)
1g.16997064C>TCA637354ATP13A2c.1151G>A (p.Arg384Gln)
c.1136G>A (p.Arg379Gln)
n.759G>A
n.290G>A
c.311G>A (p.Arg104Gln)
c.290G>A (p.Arg97Gln)
c.1148G>A (p.Arg383Gln)
c.1124G>A (p.Arg375Gln)
c.1133G>A (p.Arg378Gln)
c.1109G>A (p.Arg370Gln)
c.1121G>A (p.Arg374Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16997065G>ACA637355ATP13A2c.1150C>T (p.Arg384Trp)
c.1135C>T (p.Arg379Trp)
n.758C>T
n.289C>T
c.310C>T (p.Arg104Trp)
c.289C>T (p.Arg97Trp)
c.1147C>T (p.Arg383Trp)
c.1123C>T (p.Arg375Trp)
c.1132C>T (p.Arg378Trp)
c.1108C>T (p.Arg370Trp)
c.1120C>T (p.Arg374Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16997065G>CCA338255024ATP13A2c.1150C>G (p.Arg384Gly)
c.1135C>G (p.Arg379Gly)
n.758C>G
n.289C>G
c.310C>G (p.Arg104Gly)
c.289C>G (p.Arg97Gly)
c.1147C>G (p.Arg383Gly)
c.1123C>G (p.Arg375Gly)
c.1132C>G (p.Arg378Gly)
c.1108C>G (p.Arg370Gly)
c.1120C>G (p.Arg374Gly)
 gnomAD v4
1g.16997065G=CA1156032692ATP13A2c.1150C= (p.Arg384=)
c.1135C= (p.Arg379=)
n.758C=
n.289C=
c.310C= (p.Arg104=)
c.289C= (p.Arg97=)
c.1147C= (p.Arg383=)
c.1123C= (p.Arg375=)
c.1132C= (p.Arg378=)
c.1108C= (p.Arg370=)
c.1120C= (p.Arg374=)
1g.16997065G>TCA416063045ATP13A2c.1150C>A (p.Arg384=)
c.1135C>A (p.Arg379=)
n.758C>A
n.289C>A
c.310C>A (p.Arg104=)
c.289C>A (p.Arg97=)
c.1147C>A (p.Arg383=)
c.1123C>A (p.Arg375=)
c.1132C>A (p.Arg378=)
c.1108C>A (p.Arg370=)
c.1120C>A (p.Arg374=)
 dbSNP gnomAD v3 gnomAD v4
1g.16997066G>ACA416063051ATP13A2c.1149C>T (p.Ala383=)
c.1134C>T (p.Ala378=)
n.757C>T
n.288C>T
c.309C>T (p.Ala103=)
c.288C>T (p.Ala96=)
c.1146C>T (p.Ala382=)
c.1122C>T (p.Ala374=)
c.1131C>T (p.Ala377=)
c.1107C>T (p.Ala369=)
c.1119C>T (p.Ala373=)
 gnomAD v4
1g.16997066G>CCA416063049ATP13A2c.1149C>G (p.Ala383=)
c.1134C>G (p.Ala378=)
n.757C>G
n.288C>G
c.309C>G (p.Ala103=)
c.288C>G (p.Ala96=)
c.1146C>G (p.Ala382=)
c.1122C>G (p.Ala374=)
c.1131C>G (p.Ala377=)
c.1107C>G (p.Ala369=)
c.1119C>G (p.Ala373=)
1g.16997066G>TCA416063047ATP13A2c.1149C>A (p.Ala383=)
c.1134C>A (p.Ala378=)
n.757C>A
n.288C>A
c.309C>A (p.Ala103=)
c.288C>A (p.Ala96=)
c.1146C>A (p.Ala382=)
c.1122C>A (p.Ala374=)
c.1131C>A (p.Ala377=)
c.1107C>A (p.Ala369=)
c.1119C>A (p.Ala373=)
1g.16997067G>ACA338255025ATP13A2c.1148C>T (p.Ala383Val)
c.1133C>T (p.Ala378Val)
n.756C>T
n.287C>T
c.308C>T (p.Ala103Val)
c.287C>T (p.Ala96Val)
c.1145C>T (p.Ala382Val)
c.1121C>T (p.Ala374Val)
c.1130C>T (p.Ala377Val)
c.1106C>T (p.Ala369Val)
c.1118C>T (p.Ala373Val)
 gnomAD v4
1g.16997067G>CCA338255026ATP13A2c.1148C>G (p.Ala383Gly)
c.1133C>G (p.Ala378Gly)
n.756C>G
n.287C>G
c.308C>G (p.Ala103Gly)
c.287C>G (p.Ala96Gly)
c.1145C>G (p.Ala382Gly)
c.1121C>G (p.Ala374Gly)
c.1130C>G (p.Ala377Gly)
c.1106C>G (p.Ala369Gly)
c.1118C>G (p.Ala373Gly)
1g.16997067G>TCA338255027ATP13A2c.1148C>A (p.Ala383Asp)
c.1133C>A (p.Ala378Asp)
n.756C>A
n.287C>A
c.308C>A (p.Ala103Asp)
c.287C>A (p.Ala96Asp)
c.1145C>A (p.Ala382Asp)
c.1121C>A (p.Ala374Asp)
c.1130C>A (p.Ala377Asp)
c.1106C>A (p.Ala369Asp)
c.1118C>A (p.Ala373Asp)
1g.16997068C>ACA338255028ATP13A2c.1147G>T (p.Ala383Ser)
c.1132G>T (p.Ala378Ser)
n.755G>T
n.286G>T
c.307G>T (p.Ala103Ser)
c.286G>T (p.Ala96Ser)
c.1144G>T (p.Ala382Ser)
c.1120G>T (p.Ala374Ser)
c.1129G>T (p.Ala377Ser)
c.1105G>T (p.Ala369Ser)
c.1117G>T (p.Ala373Ser)
1g.16997068C>GCA338255029ATP13A2c.1147G>C (p.Ala383Pro)
c.1132G>C (p.Ala378Pro)
n.755G>C
n.286G>C
c.307G>C (p.Ala103Pro)
c.286G>C (p.Ala96Pro)
c.1144G>C (p.Ala382Pro)
c.1120G>C (p.Ala374Pro)
c.1129G>C (p.Ala377Pro)
c.1105G>C (p.Ala369Pro)
c.1117G>C (p.Ala373Pro)
1g.16997068C>TCA338255030ATP13A2c.1147G>A (p.Ala383Thr)
c.1132G>A (p.Ala378Thr)
n.755G>A
n.286G>A
c.307G>A (p.Ala103Thr)
c.286G>A (p.Ala96Thr)
c.1144G>A (p.Ala382Thr)
c.1120G>A (p.Ala374Thr)
c.1129G>A (p.Ala377Thr)
c.1105G>A (p.Ala369Thr)
c.1117G>A (p.Ala373Thr)
1g.16997069C>ACA338255031ATP13A2c.1146G>T (p.Gln382His)
c.1131G>T (p.Gln377His)
n.754G>T
n.285G>T
c.306G>T (p.Gln102His)
c.285G>T (p.Gln95His)
c.1143G>T (p.Gln381His)
c.1119G>T (p.Gln373His)
c.1128G>T (p.Gln376His)
c.1104G>T (p.Gln368His)
c.1116G>T (p.Gln372His)
1g.16997069C>GCA338255032ATP13A2c.1146G>C (p.Gln382His)
c.1131G>C (p.Gln377His)
n.754G>C
n.285G>C
c.306G>C (p.Gln102His)
c.285G>C (p.Gln95His)
c.1143G>C (p.Gln381His)
c.1119G>C (p.Gln373His)
c.1128G>C (p.Gln376His)
c.1104G>C (p.Gln368His)
c.1116G>C (p.Gln372His)
1g.16997069C>TCA416063086ATP13A2c.1146G>A (p.Gln382=)
c.1131G>A (p.Gln377=)
n.754G>A
n.285G>A
c.306G>A (p.Gln102=)
c.285G>A (p.Gln95=)
c.1143G>A (p.Gln381=)
c.1119G>A (p.Gln373=)
c.1128G>A (p.Gln376=)
c.1104G>A (p.Gln368=)
c.1116G>A (p.Gln372=)
1g.16997070T>ACA338255033ATP13A2c.1145A>T (p.Gln382Leu)
c.1130A>T (p.Gln377Leu)
n.753A>T
n.284A>T
c.305A>T (p.Gln102Leu)
c.284A>T (p.Gln95Leu)
c.1142A>T (p.Gln381Leu)
c.1118A>T (p.Gln373Leu)
c.1127A>T (p.Gln376Leu)
c.1103A>T (p.Gln368Leu)
c.1115A>T (p.Gln372Leu)
1g.16997070T>CCA18638319ATP13A2c.1145A>G (p.Gln382Arg)
c.1130A>G (p.Gln377Arg)
n.753A>G
n.284A>G
c.305A>G (p.Gln102Arg)
c.284A>G (p.Gln95Arg)
c.1142A>G (p.Gln381Arg)
c.1118A>G (p.Gln373Arg)
c.1127A>G (p.Gln376Arg)
c.1103A>G (p.Gln368Arg)
c.1115A>G (p.Gln372Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.16997070T>GCA338255034ATP13A2c.1145A>C (p.Gln382Pro)
c.1130A>C (p.Gln377Pro)
n.753A>C
n.284A>C
c.305A>C (p.Gln102Pro)
c.284A>C (p.Gln95Pro)
c.1142A>C (p.Gln381Pro)
c.1118A>C (p.Gln373Pro)
c.1127A>C (p.Gln376Pro)
c.1103A>C (p.Gln368Pro)
c.1115A>C (p.Gln372Pro)
1g.16997070T=CA1156032700ATP13A2c.1145A= (p.Gln382=)
c.1130A= (p.Gln377=)
n.753A=
n.284A=
c.305A= (p.Gln102=)
c.284A= (p.Gln95=)
c.1142A= (p.Gln381=)
c.1118A= (p.Gln373=)
c.1127A= (p.Gln376=)
c.1103A= (p.Gln368=)
c.1115A= (p.Gln372=)
1g.16997071G>ACA338255035ATP13A2c.1144C>T (p.Gln382Ter)
c.1129C>T (p.Gln377Ter)
n.752C>T
n.283C>T
c.304C>T (p.Gln102Ter)
c.283C>T (p.Gln95Ter)
c.1141C>T (p.Gln381Ter)
c.1117C>T (p.Gln373Ter)
c.1126C>T (p.Gln376Ter)
c.1102C>T (p.Gln368Ter)
c.1114C>T (p.Gln372Ter)
 dbSNP
1g.16997071G>CCA338255037ATP13A2c.1144C>G (p.Gln382Glu)
c.1129C>G (p.Gln377Glu)
n.752C>G
n.283C>G
c.304C>G (p.Gln102Glu)
c.283C>G (p.Gln95Glu)
c.1141C>G (p.Gln381Glu)
c.1117C>G (p.Gln373Glu)
c.1126C>G (p.Gln376Glu)
c.1102C>G (p.Gln368Glu)
c.1114C>G (p.Gln372Glu)
1g.16997071G=CA1156032705ATP13A2c.1144C= (p.Gln382=)
c.1129C= (p.Gln377=)
n.752C=
n.283C=
c.304C= (p.Gln102=)
c.283C= (p.Gln95=)
c.1141C= (p.Gln381=)
c.1117C= (p.Gln373=)
c.1126C= (p.Gln376=)
c.1102C= (p.Gln368=)
c.1114C= (p.Gln372=)
1g.16997071G>TCA338255036ATP13A2c.1144C>A (p.Gln382Lys)
c.1129C>A (p.Gln377Lys)
n.752C>A
n.283C>A
c.304C>A (p.Gln102Lys)
c.283C>A (p.Gln95Lys)
c.1141C>A (p.Gln381Lys)
c.1117C>A (p.Gln373Lys)
c.1126C>A (p.Gln376Lys)
c.1102C>A (p.Gln368Lys)
c.1114C>A (p.Gln372Lys)
1g.16997072C>ACA338255038ATP13A2c.1143G>T (p.Leu381Phe)
c.1128G>T (p.Leu376Phe)
n.751G>T
n.282G>T
c.303G>T (p.Leu101Phe)
c.282G>T (p.Leu94Phe)
c.1140G>T (p.Leu380Phe)
c.1116G>T (p.Leu372Phe)
c.1125G>T (p.Leu375Phe)
c.1101G>T (p.Leu367Phe)
c.1113G>T (p.Leu371Phe)
1g.16997072C>GCA338255039ATP13A2c.1143G>C (p.Leu381Phe)
c.1128G>C (p.Leu376Phe)
n.751G>C
n.282G>C
c.303G>C (p.Leu101Phe)
c.282G>C (p.Leu94Phe)
c.1140G>C (p.Leu380Phe)
c.1116G>C (p.Leu372Phe)
c.1125G>C (p.Leu375Phe)
c.1101G>C (p.Leu367Phe)
c.1113G>C (p.Leu371Phe)
1g.16997072C>TCA416063125ATP13A2c.1143G>A (p.Leu381=)
c.1128G>A (p.Leu376=)
n.751G>A
n.282G>A
c.303G>A (p.Leu101=)
c.282G>A (p.Leu94=)
c.1140G>A (p.Leu380=)
c.1116G>A (p.Leu372=)
c.1125G>A (p.Leu375=)
c.1101G>A (p.Leu367=)
c.1113G>A (p.Leu371=)
1g.16997073A>CCA338255040ATP13A2c.1142T>G (p.Leu381Trp)
c.1127T>G (p.Leu376Trp)
n.750T>G
n.281T>G
c.302T>G (p.Leu101Trp)
c.281T>G (p.Leu94Trp)
c.1139T>G (p.Leu380Trp)
c.1115T>G (p.Leu372Trp)
c.1124T>G (p.Leu375Trp)
c.1100T>G (p.Leu367Trp)
c.1112T>G (p.Leu371Trp)
1g.16997073A>GCA338255041ATP13A2c.1142T>C (p.Leu381Ser)
c.1127T>C (p.Leu376Ser)
n.750T>C
n.281T>C
c.302T>C (p.Leu101Ser)
c.281T>C (p.Leu94Ser)
c.1139T>C (p.Leu380Ser)
c.1115T>C (p.Leu372Ser)
c.1124T>C (p.Leu375Ser)
c.1100T>C (p.Leu367Ser)
c.1112T>C (p.Leu371Ser)
1g.16997073A>TCA338255042ATP13A2c.1142T>A (p.Leu381Ter)
c.1127T>A (p.Leu376Ter)
n.750T>A
n.281T>A
c.302T>A (p.Leu101Ter)
c.281T>A (p.Leu94Ter)
c.1139T>A (p.Leu380Ter)
c.1115T>A (p.Leu372Ter)
c.1124T>A (p.Leu375Ter)
c.1100T>A (p.Leu367Ter)
c.1112T>A (p.Leu371Ter)
1g.16997074A>CCA338255043ATP13A2c.1141T>G (p.Leu381Val)
c.1126T>G (p.Leu376Val)
n.749T>G
n.280T>G
c.301T>G (p.Leu101Val)
c.280T>G (p.Leu94Val)
c.1138T>G (p.Leu380Val)
c.1114T>G (p.Leu372Val)
c.1123T>G (p.Leu375Val)
c.1099T>G (p.Leu367Val)
c.1111T>G (p.Leu371Val)
1g.16997074A>GCA416063128ATP13A2c.1141T>C (p.Leu381=)
c.1126T>C (p.Leu376=)
n.749T>C
n.280T>C
c.301T>C (p.Leu101=)
c.280T>C (p.Leu94=)
c.1138T>C (p.Leu380=)
c.1114T>C (p.Leu372=)
c.1123T>C (p.Leu375=)
c.1099T>C (p.Leu367=)
c.1111T>C (p.Leu371=)
1g.16997074A>TCA338255044ATP13A2c.1141T>A (p.Leu381Met)
c.1126T>A (p.Leu376Met)
n.749T>A
n.280T>A
c.301T>A (p.Leu101Met)
c.280T>A (p.Leu94Met)
c.1138T>A (p.Leu380Met)
c.1114T>A (p.Leu372Met)
c.1123T>A (p.Leu375Met)
c.1099T>A (p.Leu367Met)
c.1111T>A (p.Leu371Met)
1g.16997075G>ACA416063134ATP13A2c.1140C>T (p.Ile380=)
c.1125C>T (p.Ile375=)
n.748C>T
n.279C>T
c.300C>T (p.Ile100=)
c.279C>T (p.Ile93=)
c.1137C>T (p.Ile379=)
c.1113C>T (p.Ile371=)
c.1122C>T (p.Ile374=)
c.1098C>T (p.Ile366=)
c.1110C>T (p.Ile370=)
1g.16997075G>CCA338255045ATP13A2c.1140C>G (p.Ile380Met)
c.1125C>G (p.Ile375Met)
n.748C>G
n.279C>G
c.300C>G (p.Ile100Met)
c.279C>G (p.Ile93Met)
c.1137C>G (p.Ile379Met)
c.1113C>G (p.Ile371Met)
c.1122C>G (p.Ile374Met)
c.1098C>G (p.Ile366Met)
c.1110C>G (p.Ile370Met)
 dbSNP gnomAD v2 gnomAD v4
1g.16997075G=CA1156032709ATP13A2c.1140C= (p.Ile380=)
c.1125C= (p.Ile375=)
n.748C=
n.279C=
c.300C= (p.Ile100=)
c.279C= (p.Ile93=)
c.1137C= (p.Ile379=)
c.1113C= (p.Ile371=)
c.1122C= (p.Ile374=)
c.1098C= (p.Ile366=)
c.1110C= (p.Ile370=)
1g.16997075G>TCA416063157ATP13A2c.1140C>A (p.Ile380=)
c.1125C>A (p.Ile375=)
n.748C>A
n.279C>A
c.300C>A (p.Ile100=)
c.279C>A (p.Ile93=)
c.1137C>A (p.Ile379=)
c.1113C>A (p.Ile371=)
c.1122C>A (p.Ile374=)
c.1098C>A (p.Ile366=)
c.1110C>A (p.Ile370=)
1g.16997076A>CCA338255046ATP13A2c.1139T>G (p.Ile380Ser)
c.1124T>G (p.Ile375Ser)
n.747T>G
n.278T>G
c.299T>G (p.Ile100Ser)
c.278T>G (p.Ile93Ser)
c.1136T>G (p.Ile379Ser)
c.1112T>G (p.Ile371Ser)
c.1121T>G (p.Ile374Ser)
c.1097T>G (p.Ile366Ser)
c.1109T>G (p.Ile370Ser)
1g.16997076A>GCA338255047ATP13A2c.1139T>C (p.Ile380Thr)
c.1124T>C (p.Ile375Thr)
n.747T>C
n.278T>C
c.299T>C (p.Ile100Thr)
c.278T>C (p.Ile93Thr)
c.1136T>C (p.Ile379Thr)
c.1112T>C (p.Ile371Thr)
c.1121T>C (p.Ile374Thr)
c.1097T>C (p.Ile366Thr)
c.1109T>C (p.Ile370Thr)
1g.16997076A>TCA338255048ATP13A2c.1139T>A (p.Ile380Asn)
c.1124T>A (p.Ile375Asn)
n.747T>A
n.278T>A
c.299T>A (p.Ile100Asn)
c.278T>A (p.Ile93Asn)
c.1136T>A (p.Ile379Asn)
c.1112T>A (p.Ile371Asn)
c.1121T>A (p.Ile374Asn)
c.1097T>A (p.Ile366Asn)
c.1109T>A (p.Ile370Asn)
1g.16997077T>ACA338255049ATP13A2c.1138A>T (p.Ile380Phe)
c.1123A>T (p.Ile375Phe)
n.746A>T
n.277A>T
c.298A>T (p.Ile100Phe)
c.277A>T (p.Ile93Phe)
c.1135A>T (p.Ile379Phe)
c.1111A>T (p.Ile371Phe)
c.1120A>T (p.Ile374Phe)
c.1096A>T (p.Ile366Phe)
c.1108A>T (p.Ile370Phe)
1g.16997077T>CCA338255050ATP13A2c.1138A>G (p.Ile380Val)
c.1123A>G (p.Ile375Val)
n.746A>G
n.277A>G
c.298A>G (p.Ile100Val)
c.277A>G (p.Ile93Val)
c.1135A>G (p.Ile379Val)
c.1111A>G (p.Ile371Val)
c.1120A>G (p.Ile374Val)
c.1096A>G (p.Ile366Val)
c.1108A>G (p.Ile370Val)
 dbSNP gnomAD v2 gnomAD v4
1g.16997077T>GCA338255051ATP13A2c.1138A>C (p.Ile380Leu)
c.1123A>C (p.Ile375Leu)
n.746A>C
n.277A>C
c.298A>C (p.Ile100Leu)
c.277A>C (p.Ile93Leu)
c.1135A>C (p.Ile379Leu)
c.1111A>C (p.Ile371Leu)
c.1120A>C (p.Ile374Leu)
c.1096A>C (p.Ile366Leu)
c.1108A>C (p.Ile370Leu)
1g.16997077T=CA1156032713ATP13A2c.1138A= (p.Ile380=)
c.1123A= (p.Ile375=)
n.746A=
n.277A=
c.298A= (p.Ile100=)
c.277A= (p.Ile93=)
c.1135A= (p.Ile379=)
c.1111A= (p.Ile371=)
c.1120A= (p.Ile374=)
c.1096A= (p.Ile366=)
c.1108A= (p.Ile370=)
1g.16997078G>ACA18638324ATP13A2c.1137C>T (p.Leu379=)
c.1122C>T (p.Leu374=)
n.745C>T
n.276C>T
c.297C>T (p.Leu99=)
c.276C>T (p.Leu92=)
c.1134C>T (p.Leu378=)
c.1110C>T (p.Leu370=)
c.1119C>T (p.Leu373=)
c.1095C>T (p.Leu365=)
c.1107C>T (p.Leu369=)
 dbSNP gnomAD v3 gnomAD v4
1g.16997078G>CCA416063175ATP13A2c.1137C>G (p.Leu379=)
c.1122C>G (p.Leu374=)
n.745C>G
n.276C>G
c.297C>G (p.Leu99=)
c.276C>G (p.Leu92=)
c.1134C>G (p.Leu378=)
c.1110C>G (p.Leu370=)
c.1119C>G (p.Leu373=)
c.1095C>G (p.Leu365=)
c.1107C>G (p.Leu369=)
 ClinVar dbSNP
1g.16997078G=CA1156032717ATP13A2c.1137C= (p.Leu379=)
c.1122C= (p.Leu374=)
n.745C=
n.276C=
c.297C= (p.Leu99=)
c.276C= (p.Leu92=)
c.1134C= (p.Leu378=)
c.1110C= (p.Leu370=)
c.1119C= (p.Leu373=)
c.1095C= (p.Leu365=)
c.1107C= (p.Leu369=)
1g.16997078G>TCA416063172ATP13A2c.1137C>A (p.Leu379=)
c.1122C>A (p.Leu374=)
n.745C>A
n.276C>A
c.297C>A (p.Leu99=)
c.276C>A (p.Leu92=)
c.1134C>A (p.Leu378=)
c.1110C>A (p.Leu370=)
c.1119C>A (p.Leu373=)
c.1095C>A (p.Leu365=)
c.1107C>A (p.Leu369=)
1g.16997079A=CA1156032722ATP13A2c.1136T= (p.Leu379=)
c.1121T= (p.Leu374=)
n.744T=
n.275T=
c.296T= (p.Leu99=)
c.275T= (p.Leu92=)
c.1133T= (p.Leu378=)
c.1109T= (p.Leu370=)
c.1118T= (p.Leu373=)
c.1094T= (p.Leu365=)
c.1106T= (p.Leu369=)
1g.16997079A>CCA338255053ATP13A2c.1136T>G (p.Leu379Arg)
c.1121T>G (p.Leu374Arg)
n.744T>G
n.275T>G
c.296T>G (p.Leu99Arg)
c.275T>G (p.Leu92Arg)
c.1133T>G (p.Leu378Arg)
c.1109T>G (p.Leu370Arg)
c.1118T>G (p.Leu373Arg)
c.1094T>G (p.Leu365Arg)
c.1106T>G (p.Leu369Arg)
 gnomAD v4
1g.16997079A>GCA338255055ATP13A2c.1136T>C (p.Leu379Pro)
c.1121T>C (p.Leu374Pro)
n.744T>C
n.275T>C
c.296T>C (p.Leu99Pro)
c.275T>C (p.Leu92Pro)
c.1133T>C (p.Leu378Pro)
c.1109T>C (p.Leu370Pro)
c.1118T>C (p.Leu373Pro)
c.1094T>C (p.Leu365Pro)
c.1106T>C (p.Leu369Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.16997079A>TCA18638328ATP13A2c.1136T>A (p.Leu379His)
c.1121T>A (p.Leu374His)
n.744T>A
n.275T>A
c.296T>A (p.Leu99His)
c.275T>A (p.Leu92His)
c.1133T>A (p.Leu378His)
c.1109T>A (p.Leu370His)
c.1118T>A (p.Leu373His)
c.1094T>A (p.Leu365His)
c.1106T>A (p.Leu369His)
 dbSNP gnomAD v3 gnomAD v4
1g.16997080G>ACA338255056ATP13A2c.1135C>T (p.Leu379Phe)
c.1120C>T (p.Leu374Phe)
n.743C>T
n.274C>T
c.295C>T (p.Leu99Phe)
c.274C>T (p.Leu92Phe)
c.1132C>T (p.Leu378Phe)
c.1108C>T (p.Leu370Phe)
c.1117C>T (p.Leu373Phe)
c.1093C>T (p.Leu365Phe)
c.1105C>T (p.Leu369Phe)
1g.16997080G>CCA338255058ATP13A2c.1135C>G (p.Leu379Val)
c.1120C>G (p.Leu374Val)
n.743C>G
n.274C>G
c.295C>G (p.Leu99Val)
c.274C>G (p.Leu92Val)
c.1132C>G (p.Leu378Val)
c.1108C>G (p.Leu370Val)
c.1117C>G (p.Leu373Val)
c.1093C>G (p.Leu365Val)
c.1105C>G (p.Leu369Val)
1g.16997080G=CA1156032731ATP13A2c.1135C= (p.Leu379=)
c.1120C= (p.Leu374=)
n.743C=
n.274C=
c.295C= (p.Leu99=)
c.274C= (p.Leu92=)
c.1132C= (p.Leu378=)
c.1108C= (p.Leu370=)
c.1117C= (p.Leu373=)
c.1093C= (p.Leu365=)
c.1105C= (p.Leu369=)
1g.16997080G>TCA18638339ATP13A2c.1135C>A (p.Leu379Ile)
c.1120C>A (p.Leu374Ile)
n.743C>A
n.274C>A
c.295C>A (p.Leu99Ile)
c.274C>A (p.Leu92Ile)
c.1132C>A (p.Leu378Ile)
c.1108C>A (p.Leu370Ile)
c.1117C>A (p.Leu373Ile)
c.1093C>A (p.Leu365Ile)
c.1105C>A (p.Leu369Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16997081G>ACA416063213ATP13A2c.1134C>T (p.Thr378=)
c.1119C>T (p.Thr373=)
n.742C>T
n.273C>T
c.294C>T (p.Thr98=)
c.273C>T (p.Thr91=)
c.1131C>T (p.Thr377=)
c.1107C>T (p.Thr369=)
c.1116C>T (p.Thr372=)
c.1092C>T (p.Thr364=)
c.1104C>T (p.Thr368=)
1g.16997081G>CCA416063209ATP13A2c.1134C>G (p.Thr378=)
c.1119C>G (p.Thr373=)
n.742C>G
n.273C>G
c.294C>G (p.Thr98=)
c.273C>G (p.Thr91=)
c.1131C>G (p.Thr377=)
c.1107C>G (p.Thr369=)
c.1116C>G (p.Thr372=)
c.1092C>G (p.Thr364=)
c.1104C>G (p.Thr368=)
1g.16997081G=CA1156032737ATP13A2c.1134C= (p.Thr378=)
c.1119C= (p.Thr373=)
n.742C=
n.273C=
c.294C= (p.Thr98=)
c.273C= (p.Thr91=)
c.1131C= (p.Thr377=)
c.1107C= (p.Thr369=)
c.1116C= (p.Thr372=)
c.1092C= (p.Thr364=)
c.1104C= (p.Thr368=)
1g.16997081G>TCA416063206ATP13A2c.1134C>A (p.Thr378=)
c.1119C>A (p.Thr373=)
n.742C>A
n.273C>A
c.294C>A (p.Thr98=)
c.273C>A (p.Thr91=)
c.1131C>A (p.Thr377=)
c.1107C>A (p.Thr369=)
c.1116C>A (p.Thr372=)
c.1092C>A (p.Thr364=)
c.1104C>A (p.Thr368=)
 dbSNP gnomAD v3 gnomAD v4
1g.16997082G>ACA338255060ATP13A2c.1133C>T (p.Thr378Ile)
c.1118C>T (p.Thr373Ile)
n.741C>T
n.272C>T
c.293C>T (p.Thr98Ile)
c.272C>T (p.Thr91Ile)
c.1130C>T (p.Thr377Ile)
c.1106C>T (p.Thr369Ile)
c.1115C>T (p.Thr372Ile)
c.1091C>T (p.Thr364Ile)
c.1103C>T (p.Thr368Ile)
1g.16997082G>CCA338255062ATP13A2c.1133C>G (p.Thr378Ser)
c.1118C>G (p.Thr373Ser)
n.741C>G
n.272C>G
c.293C>G (p.Thr98Ser)
c.272C>G (p.Thr91Ser)
c.1130C>G (p.Thr377Ser)
c.1106C>G (p.Thr369Ser)
c.1115C>G (p.Thr372Ser)
c.1091C>G (p.Thr364Ser)
c.1103C>G (p.Thr368Ser)
1g.16997082G>TCA338255063ATP13A2c.1133C>A (p.Thr378Asn)
c.1118C>A (p.Thr373Asn)
n.741C>A
n.272C>A
c.293C>A (p.Thr98Asn)
c.272C>A (p.Thr91Asn)
c.1130C>A (p.Thr377Asn)
c.1106C>A (p.Thr369Asn)
c.1115C>A (p.Thr372Asn)
c.1091C>A (p.Thr364Asn)
c.1103C>A (p.Thr368Asn)
1g.16997083T>ACA338255065ATP13A2c.1132A>T (p.Thr378Ser)
c.1117A>T (p.Thr373Ser)
n.740A>T
n.271A>T
c.292A>T (p.Thr98Ser)
c.271A>T (p.Thr91Ser)
c.1129A>T (p.Thr377Ser)
c.1105A>T (p.Thr369Ser)
c.1114A>T (p.Thr372Ser)
c.1090A>T (p.Thr364Ser)
c.1102A>T (p.Thr368Ser)
1g.16997083T>CCA338255066ATP13A2c.1132A>G (p.Thr378Ala)
c.1117A>G (p.Thr373Ala)
n.740A>G
n.271A>G
c.292A>G (p.Thr98Ala)
c.271A>G (p.Thr91Ala)
c.1129A>G (p.Thr377Ala)
c.1105A>G (p.Thr369Ala)
c.1114A>G (p.Thr372Ala)
c.1090A>G (p.Thr364Ala)
c.1102A>G (p.Thr368Ala)
1g.16997083T>GCA338255068ATP13A2c.1132A>C (p.Thr378Pro)
c.1117A>C (p.Thr373Pro)
n.740A>C
n.271A>C
c.292A>C (p.Thr98Pro)
c.271A>C (p.Thr91Pro)
c.1129A>C (p.Thr377Pro)
c.1105A>C (p.Thr369Pro)
c.1114A>C (p.Thr372Pro)
c.1090A>C (p.Thr364Pro)
c.1102A>C (p.Thr368Pro)
1g.16997084C>ACA416063251ATP13A2c.1131G>T (p.Gly377=)
c.1116G>T (p.Gly372=)
n.739G>T
n.270G>T
c.291G>T (p.Gly97=)
c.270G>T (p.Gly90=)
c.1128G>T (p.Gly376=)
c.1104G>T (p.Gly368=)
c.1113G>T (p.Gly371=)
c.1089G>T (p.Gly363=)
c.1101G>T (p.Gly367=)
 COSMIC COSMIC
1g.16997084C=CA1147601801ATP13A2c.1131G= (p.Gly377=)
c.1116G= (p.Gly372=)
n.739G=
n.270G=
c.291G= (p.Gly97=)
c.270G= (p.Gly90=)
c.1128G= (p.Gly376=)
c.1104G= (p.Gly368=)
c.1113G= (p.Gly371=)
c.1089G= (p.Gly363=)
c.1101G= (p.Gly367=)
1g.16997084C>GCA416063259ATP13A2c.1131G>C (p.Gly377=)
c.1116G>C (p.Gly372=)
n.739G>C
n.270G>C
c.291G>C (p.Gly97=)
c.270G>C (p.Gly90=)
c.1128G>C (p.Gly376=)
c.1104G>C (p.Gly368=)
c.1113G>C (p.Gly371=)
c.1089G>C (p.Gly363=)
c.1101G>C (p.Gly367=)
1g.16997084C>TCA637356ATP13A2c.1131G>A (p.Gly377=)
c.1116G>A (p.Gly372=)
n.739G>A
n.270G>A
c.291G>A (p.Gly97=)
c.270G>A (p.Gly90=)
c.1128G>A (p.Gly376=)
c.1104G>A (p.Gly368=)
c.1113G>A (p.Gly371=)
c.1089G>A (p.Gly363=)
c.1101G>A (p.Gly367=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16997085C>ACA338255073ATP13A2c.1130G>T (p.Gly377Val)
c.1115G>T (p.Gly372Val)
n.738G>T
n.269G>T
c.290G>T (p.Gly97Val)
c.269G>T (p.Gly90Val)
c.1127G>T (p.Gly376Val)
c.1103G>T (p.Gly368Val)
c.1112G>T (p.Gly371Val)
c.1088G>T (p.Gly363Val)
c.1100G>T (p.Gly367Val)
1g.16997085C>GCA338255071ATP13A2c.1130G>C (p.Gly377Ala)
c.1115G>C (p.Gly372Ala)
n.738G>C
n.269G>C
c.290G>C (p.Gly97Ala)
c.269G>C (p.Gly90Ala)
c.1127G>C (p.Gly376Ala)
c.1103G>C (p.Gly368Ala)
c.1112G>C (p.Gly371Ala)
c.1088G>C (p.Gly363Ala)
c.1100G>C (p.Gly367Ala)
1g.16997085C>TCA338255070ATP13A2c.1130G>A (p.Gly377Glu)
c.1115G>A (p.Gly372Glu)
n.738G>A
n.269G>A
c.290G>A (p.Gly97Glu)
c.269G>A (p.Gly90Glu)
c.1127G>A (p.Gly376Glu)
c.1103G>A (p.Gly368Glu)
c.1112G>A (p.Gly371Glu)
c.1088G>A (p.Gly363Glu)
c.1100G>A (p.Gly367Glu)
 gnomAD v4
1g.16997086C>ACA338255077ATP13A2c.1129G>T (p.Gly377Trp)
c.1114G>T (p.Gly372Trp)
n.737G>T
n.268G>T
c.289G>T (p.Gly97Trp)
c.268G>T (p.Gly90Trp)
c.1126G>T (p.Gly376Trp)
c.1102G>T (p.Gly368Trp)
c.1111G>T (p.Gly371Trp)
c.1087G>T (p.Gly363Trp)
c.1099G>T (p.Gly367Trp)
1g.16997086C=CA1156032747ATP13A2c.1129G= (p.Gly377=)
c.1114G= (p.Gly372=)
n.737G=
n.268G=
c.289G= (p.Gly97=)
c.268G= (p.Gly90=)
c.1126G= (p.Gly376=)
c.1102G= (p.Gly368=)
c.1111G= (p.Gly371=)
c.1087G= (p.Gly363=)
c.1099G= (p.Gly367=)
1g.16997086C>GCA338255080ATP13A2c.1129G>C (p.Gly377Arg)
c.1114G>C (p.Gly372Arg)
n.737G>C
n.268G>C
c.289G>C (p.Gly97Arg)
c.268G>C (p.Gly90Arg)
c.1126G>C (p.Gly376Arg)
c.1102G>C (p.Gly368Arg)
c.1111G>C (p.Gly371Arg)
c.1087G>C (p.Gly363Arg)
c.1099G>C (p.Gly367Arg)
1g.16997086C>TCA18638345ATP13A2c.1129G>A (p.Gly377Arg)
c.1114G>A (p.Gly372Arg)
n.737G>A
n.268G>A
c.289G>A (p.Gly97Arg)
c.268G>A (p.Gly90Arg)
c.1126G>A (p.Gly376Arg)
c.1102G>A (p.Gly368Arg)
c.1111G>A (p.Gly371Arg)
c.1087G>A (p.Gly363Arg)
c.1099G>A (p.Gly367Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.16997087G>ACA637357ATP13A2c.1128C>T (p.Cys376=)
c.1113C>T (p.Cys371=)
n.736C>T
n.267C>T
c.288C>T (p.Cys96=)
c.267C>T (p.Cys89=)
c.1125C>T (p.Cys375=)
c.1101C>T (p.Cys367=)
c.1110C>T (p.Cys370=)
c.1086C>T (p.Cys362=)
c.1098C>T (p.Cys366=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16997087G>CCA338255083ATP13A2c.1128C>G (p.Cys376Trp)
c.1113C>G (p.Cys371Trp)
n.736C>G
n.267C>G
c.288C>G (p.Cys96Trp)
c.267C>G (p.Cys89Trp)
c.1125C>G (p.Cys375Trp)
c.1101C>G (p.Cys367Trp)
c.1110C>G (p.Cys370Trp)
c.1086C>G (p.Cys362Trp)
c.1098C>G (p.Cys366Trp)
1g.16997087G=CA1142273553ATP13A2c.1128C= (p.Cys376=)
c.1113C= (p.Cys371=)
n.736C=
n.267C=
c.288C= (p.Cys96=)
c.267C= (p.Cys89=)
c.1125C= (p.Cys375=)
c.1101C= (p.Cys367=)
c.1110C= (p.Cys370=)
c.1086C= (p.Cys362=)
c.1098C= (p.Cys366=)
1g.16997087G>TCA338255081ATP13A2c.1128C>A (p.Cys376Ter)
c.1113C>A (p.Cys371Ter)
n.736C>A
n.267C>A
c.288C>A (p.Cys96Ter)
c.267C>A (p.Cys89Ter)
c.1125C>A (p.Cys375Ter)
c.1101C>A (p.Cys367Ter)
c.1110C>A (p.Cys370Ter)
c.1086C>A (p.Cys362Ter)
c.1098C>A (p.Cys366Ter)
1g.16997088C>ACA338255085ATP13A2c.1127G>T (p.Cys376Phe)
c.1112G>T (p.Cys371Phe)
n.735G>T
n.266G>T
c.287G>T (p.Cys96Phe)
c.266G>T (p.Cys89Phe)
c.1124G>T (p.Cys375Phe)
c.1100G>T (p.Cys367Phe)
c.1109G>T (p.Cys370Phe)
c.1085G>T (p.Cys362Phe)
c.1097G>T (p.Cys366Phe)
1g.16997088C>GCA338255087ATP13A2c.1127G>C (p.Cys376Ser)
c.1112G>C (p.Cys371Ser)
n.735G>C
n.266G>C
c.287G>C (p.Cys96Ser)
c.266G>C (p.Cys89Ser)
c.1124G>C (p.Cys375Ser)
c.1100G>C (p.Cys367Ser)
c.1109G>C (p.Cys370Ser)
c.1085G>C (p.Cys362Ser)
c.1097G>C (p.Cys366Ser)
1g.16997088C>TCA338255086ATP13A2c.1127G>A (p.Cys376Tyr)
c.1112G>A (p.Cys371Tyr)
n.735G>A
n.266G>A
c.287G>A (p.Cys96Tyr)
c.266G>A (p.Cys89Tyr)
c.1124G>A (p.Cys375Tyr)
c.1100G>A (p.Cys367Tyr)
c.1109G>A (p.Cys370Tyr)
c.1085G>A (p.Cys362Tyr)
c.1097G>A (p.Cys366Tyr)
 gnomAD v4
1g.16997089A=CA1156032757ATP13A2c.1126T= (p.Cys376=)
c.1111T= (p.Cys371=)
n.734T=
n.265T=
c.286T= (p.Cys96=)
c.265T= (p.Cys89=)
c.1123T= (p.Cys375=)
c.1099T= (p.Cys367=)
c.1108T= (p.Cys370=)
c.1084T= (p.Cys362=)
c.1096T= (p.Cys366=)
1g.16997089A>CCA338255089ATP13A2c.1126T>G (p.Cys376Gly)
c.1111T>G (p.Cys371Gly)
n.734T>G
n.265T>G
c.286T>G (p.Cys96Gly)
c.265T>G (p.Cys89Gly)
c.1123T>G (p.Cys375Gly)
c.1099T>G (p.Cys367Gly)
c.1108T>G (p.Cys370Gly)
c.1084T>G (p.Cys362Gly)
c.1096T>G (p.Cys366Gly)
1g.16997089A>GCA338255090ATP13A2c.1126T>C (p.Cys376Arg)
c.1111T>C (p.Cys371Arg)
n.734T>C
n.265T>C
c.286T>C (p.Cys96Arg)
c.265T>C (p.Cys89Arg)
c.1123T>C (p.Cys375Arg)
c.1099T>C (p.Cys367Arg)
c.1108T>C (p.Cys370Arg)
c.1084T>C (p.Cys362Arg)
c.1096T>C (p.Cys366Arg)
 ClinVar dbSNP gnomAD v4
1g.16997089A>TCA338255091ATP13A2c.1126T>A (p.Cys376Ser)
c.1111T>A (p.Cys371Ser)
n.734T>A
n.265T>A
c.286T>A (p.Cys96Ser)
c.265T>A (p.Cys89Ser)
c.1123T>A (p.Cys375Ser)
c.1099T>A (p.Cys367Ser)
c.1108T>A (p.Cys370Ser)
c.1084T>A (p.Cys362Ser)
c.1096T>A (p.Cys366Ser)
1g.16997090G>ACA637358ATP13A2c.1125C>T (p.Phe375=)
c.1110C>T (p.Phe370=)
n.733C>T
n.264C>T
c.285C>T (p.Phe95=)
c.264C>T (p.Phe88=)
c.1122C>T (p.Phe374=)
c.1098C>T (p.Phe366=)
c.1107C>T (p.Phe369=)
c.1083C>T (p.Phe361=)
c.1095C>T (p.Phe365=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16997090G>CCA338255094ATP13A2c.1125C>G (p.Phe375Leu)
c.1110C>G (p.Phe370Leu)
n.733C>G
n.264C>G
c.285C>G (p.Phe95Leu)
c.264C>G (p.Phe88Leu)
c.1122C>G (p.Phe374Leu)
c.1098C>G (p.Phe366Leu)
c.1107C>G (p.Phe369Leu)
c.1083C>G (p.Phe361Leu)
c.1095C>G (p.Phe365Leu)
1g.16997090G=CA1143450656ATP13A2c.1125C= (p.Phe375=)
c.1110C= (p.Phe370=)
n.733C=
n.264C=
c.285C= (p.Phe95=)
c.264C= (p.Phe88=)
c.1122C= (p.Phe374=)
c.1098C= (p.Phe366=)
c.1107C= (p.Phe369=)
c.1083C= (p.Phe361=)
c.1095C= (p.Phe365=)
1g.16997090G>TCA338255096ATP13A2c.1125C>A (p.Phe375Leu)
c.1110C>A (p.Phe370Leu)
n.733C>A
n.264C>A
c.285C>A (p.Phe95Leu)
c.264C>A (p.Phe88Leu)
c.1122C>A (p.Phe374Leu)
c.1098C>A (p.Phe366Leu)
c.1107C>A (p.Phe369Leu)
c.1083C>A (p.Phe361Leu)
c.1095C>A (p.Phe365Leu)
1g.16997091A>CCA338255098ATP13A2c.1124T>G (p.Phe375Cys)
c.1109T>G (p.Phe370Cys)
n.732T>G
n.263T>G
c.284T>G (p.Phe95Cys)
c.263T>G (p.Phe88Cys)
c.1121T>G (p.Phe374Cys)
c.1097T>G (p.Phe366Cys)
c.1106T>G (p.Phe369Cys)
c.1082T>G (p.Phe361Cys)
c.1094T>G (p.Phe365Cys)
1g.16997091A>GCA338255099ATP13A2c.1124T>C (p.Phe375Ser)
c.1109T>C (p.Phe370Ser)
n.732T>C
n.263T>C
c.284T>C (p.Phe95Ser)
c.263T>C (p.Phe88Ser)
c.1121T>C (p.Phe374Ser)
c.1097T>C (p.Phe366Ser)
c.1106T>C (p.Phe369Ser)
c.1082T>C (p.Phe361Ser)
c.1094T>C (p.Phe365Ser)
 gnomAD v4
1g.16997091A>TCA338255101ATP13A2c.1124T>A (p.Phe375Tyr)
c.1109T>A (p.Phe370Tyr)
n.732T>A
n.263T>A
c.284T>A (p.Phe95Tyr)
c.263T>A (p.Phe88Tyr)
c.1121T>A (p.Phe374Tyr)
c.1097T>A (p.Phe366Tyr)
c.1106T>A (p.Phe369Tyr)
c.1082T>A (p.Phe361Tyr)
c.1094T>A (p.Phe365Tyr)
1g.16997092A>CCA338255102ATP13A2c.1123T>G (p.Phe375Val)
c.1108T>G (p.Phe370Val)
n.731T>G
n.262T>G
c.283T>G (p.Phe95Val)
c.262T>G (p.Phe88Val)
c.1120T>G (p.Phe374Val)
c.1096T>G (p.Phe366Val)
c.1105T>G (p.Phe369Val)
c.1081T>G (p.Phe361Val)
c.1093T>G (p.Phe365Val)
1g.16997092A>GCA338255103ATP13A2c.1123T>C (p.Phe375Leu)
c.1108T>C (p.Phe370Leu)
n.731T>C
n.262T>C
c.283T>C (p.Phe95Leu)
c.262T>C (p.Phe88Leu)
c.1120T>C (p.Phe374Leu)
c.1096T>C (p.Phe366Leu)
c.1105T>C (p.Phe369Leu)
c.1081T>C (p.Phe361Leu)
c.1093T>C (p.Phe365Leu)
1g.16997092A>TCA338255104ATP13A2c.1123T>A (p.Phe375Ile)
c.1108T>A (p.Phe370Ile)
n.731T>A
n.262T>A
c.283T>A (p.Phe95Ile)
c.262T>A (p.Phe88Ile)
c.1120T>A (p.Phe374Ile)
c.1096T>A (p.Phe366Ile)
c.1105T>A (p.Phe369Ile)
c.1081T>A (p.Phe361Ile)
c.1093T>A (p.Phe365Ile)
1g.16997093G>ACA416063318ATP13A2c.1122C>T (p.Leu374=)
c.1107C>T (p.Leu369=)
n.730C>T
n.261C>T
c.282C>T (p.Leu94=)
c.261C>T (p.Leu87=)
c.1119C>T (p.Leu373=)
c.1095C>T (p.Leu365=)
c.1104C>T (p.Leu368=)
c.1080C>T (p.Leu360=)
c.1092C>T (p.Leu364=)
 dbSNP gnomAD v2 gnomAD v4
1g.16997093G>CCA637359ATP13A2c.1122C>G (p.Leu374=)
c.1107C>G (p.Leu369=)
n.730C>G
n.261C>G
c.282C>G (p.Leu94=)
c.261C>G (p.Leu87=)
c.1119C>G (p.Leu373=)
c.1095C>G (p.Leu365=)
c.1104C>G (p.Leu368=)
c.1080C>G (p.Leu360=)
c.1092C>G (p.Leu364=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16997093G=CA1141896227ATP13A2c.1122C= (p.Leu374=)
c.1107C= (p.Leu369=)
n.730C=
n.261C=
c.282C= (p.Leu94=)
c.261C= (p.Leu87=)
c.1119C= (p.Leu373=)
c.1095C= (p.Leu365=)
c.1104C= (p.Leu368=)
c.1080C= (p.Leu360=)
c.1092C= (p.Leu364=)
1g.16997093G>TCA416063321ATP13A2c.1122C>A (p.Leu374=)
c.1107C>A (p.Leu369=)
n.730C>A
n.261C>A
c.282C>A (p.Leu94=)
c.261C>A (p.Leu87=)
c.1119C>A (p.Leu373=)
c.1095C>A (p.Leu365=)
c.1104C>A (p.Leu368=)
c.1080C>A (p.Leu360=)
c.1092C>A (p.Leu364=)
1g.16997094A=CA1156032769ATP13A2c.1121T= (p.Leu374=)
c.1106T= (p.Leu369=)
n.729T=
n.260T=
c.281T= (p.Leu94=)
c.260T= (p.Leu87=)
c.1118T= (p.Leu373=)
c.1094T= (p.Leu365=)
c.1103T= (p.Leu368=)
c.1079T= (p.Leu360=)
c.1091T= (p.Leu364=)
1g.16997094A>CCA338255108ATP13A2c.1121T>G (p.Leu374Arg)
c.1106T>G (p.Leu369Arg)
n.729T>G
n.260T>G
c.281T>G (p.Leu94Arg)
c.260T>G (p.Leu87Arg)
c.1118T>G (p.Leu373Arg)
c.1094T>G (p.Leu365Arg)
c.1103T>G (p.Leu368Arg)
c.1079T>G (p.Leu360Arg)
c.1091T>G (p.Leu364Arg)
1g.16997094A>GCA338255111ATP13A2c.1121T>C (p.Leu374Pro)
c.1106T>C (p.Leu369Pro)
n.729T>C
n.260T>C
c.281T>C (p.Leu94Pro)
c.260T>C (p.Leu87Pro)
c.1118T>C (p.Leu373Pro)
c.1094T>C (p.Leu365Pro)
c.1103T>C (p.Leu368Pro)
c.1079T>C (p.Leu360Pro)
c.1091T>C (p.Leu364Pro)
1g.16997094A>TCA338255109ATP13A2c.1121T>A (p.Leu374His)
c.1106T>A (p.Leu369His)
n.729T>A
n.260T>A
c.281T>A (p.Leu94His)
c.260T>A (p.Leu87His)
c.1118T>A (p.Leu373His)
c.1094T>A (p.Leu365His)
c.1103T>A (p.Leu368His)
c.1079T>A (p.Leu360His)
c.1091T>A (p.Leu364His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16997094_16997107delinsAGTGTGTGCCGCCGCA1156032771ATP13A2c.1108_1121delinsCGGCGGCACACACT (p.Arg370=)
c.1093_1106delinsCGGCGGCACACACT (p.Arg365=)
n.716_729delinsCGGCGGCACACACT
n.247_260delinsCGGCGGCACACACT
c.268_281delinsCGGCGGCACACACT (p.Arg90=)
c.247_260delinsCGGCGGCACACACT (p.Arg83=)
c.1105_1118delinsCGGCGGCACACACT (p.Arg369=)
c.1081_1094delinsCGGCGGCACACACT (p.Arg361=)
c.1090_1103delinsCGGCGGCACACACT (p.Arg364=)
c.1066_1079delinsCGGCGGCACACACT (p.Arg356=)
c.1078_1091delinsCGGCGGCACACACT (p.Arg360=)
1g.16997095G>ACA338255113ATP13A2c.1120C>T (p.Leu374Phe)
c.1105C>T (p.Leu369Phe)
n.728C>T
n.259C>T
c.280C>T (p.Leu94Phe)
c.259C>T (p.Leu87Phe)
c.1117C>T (p.Leu373Phe)
c.1093C>T (p.Leu365Phe)
c.1102C>T (p.Leu368Phe)
c.1078C>T (p.Leu360Phe)
c.1090C>T (p.Leu364Phe)
1g.16997095G>CCA338255114ATP13A2c.1120C>G (p.Leu374Val)
c.1105C>G (p.Leu369Val)
n.728C>G
n.259C>G
c.280C>G (p.Leu94Val)
c.259C>G (p.Leu87Val)
c.1117C>G (p.Leu373Val)
c.1093C>G (p.Leu365Val)
c.1102C>G (p.Leu368Val)
c.1078C>G (p.Leu360Val)
c.1090C>G (p.Leu364Val)
 gnomAD v4
1g.16997095G>TCA338255116ATP13A2c.1120C>A (p.Leu374Ile)
c.1105C>A (p.Leu369Ile)
n.728C>A
n.259C>A
c.280C>A (p.Leu94Ile)
c.259C>A (p.Leu87Ile)
c.1117C>A (p.Leu373Ile)
c.1093C>A (p.Leu365Ile)
c.1102C>A (p.Leu368Ile)
c.1078C>A (p.Leu360Ile)
c.1090C>A (p.Leu364Ile)
 ClinVar
1g.16997101_16997113delCA1156032776ATP13A2c.1108_1120del (p.Arg370SerfsTer22)
c.1093_1105del (p.Arg365SerfsTer22)
n.716_728del
n.247_259del
c.268_280del (p.Arg90SerfsTer22)
c.247_259del (p.Arg83SerfsTer22)
c.1105_1117del (p.Arg369SerfsTer22)
c.1081_1093del (p.Arg361SerfsTer22)
c.1090_1102del (p.Arg364SerfsTer22)
c.1066_1078del (p.Arg356SerfsTer22)
c.1078_1090del (p.Arg360SerfsTer22)
 dbSNP gnomAD v4
1g.16997096T>ACA416063347ATP13A2c.1119A>T (p.Thr373=)
c.1104A>T (p.Thr368=)
n.727A>T
n.258A>T
c.279A>T (p.Thr93=)
c.258A>T (p.Thr86=)
c.1116A>T (p.Thr372=)
c.1092A>T (p.Thr364=)
c.1101A>T (p.Thr367=)
c.1077A>T (p.Thr359=)
c.1089A>T (p.Thr363=)
1g.16997096T>CCA637360ATP13A2c.1119A>G (p.Thr373=)
c.1104A>G (p.Thr368=)
n.727A>G
n.258A>G
c.279A>G (p.Thr93=)
c.258A>G (p.Thr86=)
c.1116A>G (p.Thr372=)
c.1092A>G (p.Thr364=)
c.1101A>G (p.Thr367=)
c.1077A>G (p.Thr359=)
c.1089A>G (p.Thr363=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16997096T>GCA416063348ATP13A2c.1119A>C (p.Thr373=)
c.1104A>C (p.Thr368=)
n.727A>C
n.258A>C
c.279A>C (p.Thr93=)
c.258A>C (p.Thr86=)
c.1116A>C (p.Thr372=)
c.1092A>C (p.Thr364=)
c.1101A>C (p.Thr367=)
c.1077A>C (p.Thr359=)
c.1089A>C (p.Thr363=)
1g.16997096T=CA1156032782ATP13A2c.1119A= (p.Thr373=)
c.1104A= (p.Thr368=)
n.727A=
n.258A=
c.279A= (p.Thr93=)
c.258A= (p.Thr86=)
c.1116A= (p.Thr372=)
c.1092A= (p.Thr364=)
c.1101A= (p.Thr367=)
c.1077A= (p.Thr359=)
c.1089A= (p.Thr363=)
1g.16997097G>ACA637361ATP13A2c.1118C>T (p.Thr373Ile)
c.1103C>T (p.Thr368Ile)
n.726C>T
n.257C>T
c.278C>T (p.Thr93Ile)
c.257C>T (p.Thr86Ile)
c.1115C>T (p.Thr372Ile)
c.1091C>T (p.Thr364Ile)
c.1100C>T (p.Thr367Ile)
c.1076C>T (p.Thr359Ile)
c.1088C>T (p.Thr363Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16997097G>CCA338255123ATP13A2c.1118C>G (p.Thr373Arg)
c.1103C>G (p.Thr368Arg)
n.726C>G
n.257C>G
c.278C>G (p.Thr93Arg)
c.257C>G (p.Thr86Arg)
c.1115C>G (p.Thr372Arg)
c.1091C>G (p.Thr364Arg)
c.1100C>G (p.Thr367Arg)
c.1076C>G (p.Thr359Arg)
c.1088C>G (p.Thr363Arg)
1g.16997097G=CA1156032786ATP13A2c.1118C= (p.Thr373=)
c.1103C= (p.Thr368=)
n.726C=
n.257C=
c.278C= (p.Thr93=)
c.257C= (p.Thr86=)
c.1115C= (p.Thr372=)
c.1091C= (p.Thr364=)
c.1100C= (p.Thr367=)
c.1076C= (p.Thr359=)
c.1088C= (p.Thr363=)
1g.16997097G>TCA338255125ATP13A2c.1118C>A (p.Thr373Lys)
c.1103C>A (p.Thr368Lys)
n.726C>A
n.257C>A
c.278C>A (p.Thr93Lys)
c.257C>A (p.Thr86Lys)
c.1115C>A (p.Thr372Lys)
c.1091C>A (p.Thr364Lys)
c.1100C>A (p.Thr367Lys)
c.1076C>A (p.Thr359Lys)
c.1088C>A (p.Thr363Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.16997098T>ACA338255127ATP13A2c.1117A>T (p.Thr373Ser)
c.1102A>T (p.Thr368Ser)
n.725A>T
n.256A>T
c.277A>T (p.Thr93Ser)
c.256A>T (p.Thr86Ser)
c.1114A>T (p.Thr372Ser)
c.1090A>T (p.Thr364Ser)
c.1099A>T (p.Thr367Ser)
c.1075A>T (p.Thr359Ser)
c.1087A>T (p.Thr363Ser)
1g.16997098T>CCA338255128ATP13A2c.1117A>G (p.Thr373Ala)
c.1102A>G (p.Thr368Ala)
n.725A>G
n.256A>G
c.277A>G (p.Thr93Ala)
c.256A>G (p.Thr86Ala)
c.1114A>G (p.Thr372Ala)
c.1090A>G (p.Thr364Ala)
c.1099A>G (p.Thr367Ala)
c.1075A>G (p.Thr359Ala)
c.1087A>G (p.Thr363Ala)
1g.16997098T>GCA338255129ATP13A2c.1117A>C (p.Thr373Pro)
c.1102A>C (p.Thr368Pro)
n.725A>C
n.256A>C
c.277A>C (p.Thr93Pro)
c.256A>C (p.Thr86Pro)
c.1114A>C (p.Thr372Pro)
c.1090A>C (p.Thr364Pro)
c.1099A>C (p.Thr367Pro)
c.1075A>C (p.Thr359Pro)
c.1087A>C (p.Thr363Pro)
1g.16997099G>ACA416063379ATP13A2c.1116C>T (p.His372=)
c.1101C>T (p.His367=)
n.724C>T
n.255C>T
c.276C>T (p.His92=)
c.255C>T (p.His85=)
c.1113C>T (p.His371=)
c.1089C>T (p.His363=)
c.1098C>T (p.His366=)
c.1074C>T (p.His358=)
c.1086C>T (p.His362=)
1g.16997099G>CCA338255130ATP13A2c.1116C>G (p.His372Gln)
c.1101C>G (p.His367Gln)
n.724C>G
n.255C>G
c.276C>G (p.His92Gln)
c.255C>G (p.His85Gln)
c.1113C>G (p.His371Gln)
c.1089C>G (p.His363Gln)
c.1098C>G (p.His366Gln)
c.1074C>G (p.His358Gln)
c.1086C>G (p.His362Gln)
1g.16997099G>TCA338255132ATP13A2c.1116C>A (p.His372Gln)
c.1101C>A (p.His367Gln)
n.724C>A
n.255C>A
c.276C>A (p.His92Gln)
c.255C>A (p.His85Gln)
c.1113C>A (p.His371Gln)
c.1089C>A (p.His363Gln)
c.1098C>A (p.His366Gln)
c.1074C>A (p.His358Gln)
c.1086C>A (p.His362Gln)
1g.16997100T>ACA338255133ATP13A2c.1115A>T (p.His372Leu)
c.1100A>T (p.His367Leu)
n.723A>T
n.254A>T
c.275A>T (p.His92Leu)
c.254A>T (p.His85Leu)
c.1112A>T (p.His371Leu)
c.1088A>T (p.His363Leu)
c.1097A>T (p.His366Leu)
c.1073A>T (p.His358Leu)
c.1085A>T (p.His362Leu)
 gnomAD v4
1g.16997100T>CCA338255134ATP13A2c.1115A>G (p.His372Arg)
c.1100A>G (p.His367Arg)
n.723A>G
n.254A>G
c.275A>G (p.His92Arg)
c.254A>G (p.His85Arg)
c.1112A>G (p.His371Arg)
c.1088A>G (p.His363Arg)
c.1097A>G (p.His366Arg)
c.1073A>G (p.His358Arg)
c.1085A>G (p.His362Arg)
 gnomAD v4
1g.16997100T>GCA338255136ATP13A2c.1115A>C (p.His372Pro)
c.1100A>C (p.His367Pro)
n.723A>C
n.254A>C
c.275A>C (p.His92Pro)
c.254A>C (p.His85Pro)
c.1112A>C (p.His371Pro)
c.1088A>C (p.His363Pro)
c.1097A>C (p.His366Pro)
c.1073A>C (p.His358Pro)
c.1085A>C (p.His362Pro)
1g.16997101G>ACA338255137ATP13A2c.1114C>T (p.His372Tyr)
c.1099C>T (p.His367Tyr)
n.722C>T
n.253C>T
c.274C>T (p.His92Tyr)
c.253C>T (p.His85Tyr)
c.1111C>T (p.His371Tyr)
c.1087C>T (p.His363Tyr)
c.1096C>T (p.His366Tyr)
c.1072C>T (p.His358Tyr)
c.1084C>T (p.His362Tyr)
 gnomAD v4
1g.16997101G>CCA338255139ATP13A2c.1114C>G (p.His372Asp)
c.1099C>G (p.His367Asp)
n.722C>G
n.253C>G
c.274C>G (p.His92Asp)
c.253C>G (p.His85Asp)
c.1111C>G (p.His371Asp)
c.1087C>G (p.His363Asp)
c.1096C>G (p.His366Asp)
c.1072C>G (p.His358Asp)
c.1084C>G (p.His362Asp)
1g.16997101G>TCA338255140ATP13A2c.1114C>A (p.His372Asn)
c.1099C>A (p.His367Asn)
n.722C>A
n.253C>A
c.274C>A (p.His92Asn)
c.253C>A (p.His85Asn)
c.1111C>A (p.His371Asn)
c.1087C>A (p.His363Asn)
c.1096C>A (p.His366Asn)
c.1072C>A (p.His358Asn)
c.1084C>A (p.His362Asn)
1g.16997101_16997102delinsGCCA1156032794ATP13A2c.1113_1114delinsGC (p.Arg371=)
c.1098_1099delinsGC (p.Arg366=)
n.721_722delinsGC
n.252_253delinsGC
c.273_274delinsGC (p.Arg91=)
c.252_253delinsGC (p.Arg84=)
c.1110_1111delinsGC (p.Arg370=)
c.1086_1087delinsGC (p.Arg362=)
c.1095_1096delinsGC (p.Arg365=)
c.1071_1072delinsGC (p.Arg357=)
c.1083_1084delinsGC (p.Arg361=)
1g.16997102C>ACA416063385ATP13A2c.1113G>T (p.Arg371=)
c.1098G>T (p.Arg366=)
n.721G>T
n.252G>T
c.273G>T (p.Arg91=)
c.252G>T (p.Arg84=)
c.1110G>T (p.Arg370=)
c.1086G>T (p.Arg362=)
c.1095G>T (p.Arg365=)
c.1071G>T (p.Arg357=)
c.1083G>T (p.Arg361=)
1g.16997102C>GCA416063386ATP13A2c.1113G>C (p.Arg371=)
c.1098G>C (p.Arg366=)
n.721G>C
n.252G>C
c.273G>C (p.Arg91=)
c.252G>C (p.Arg84=)
c.1110G>C (p.Arg370=)
c.1086G>C (p.Arg362=)
c.1095G>C (p.Arg365=)
c.1071G>C (p.Arg357=)
c.1083G>C (p.Arg361=)
1g.16997102C>TCA416063387ATP13A2c.1113G>A (p.Arg371=)
c.1098G>A (p.Arg366=)
n.721G>A
n.252G>A
c.273G>A (p.Arg91=)
c.252G>A (p.Arg84=)
c.1110G>A (p.Arg370=)
c.1086G>A (p.Arg362=)
c.1095G>A (p.Arg365=)
c.1071G>A (p.Arg357=)
c.1083G>A (p.Arg361=)
1g.16997103delCA521449877ATP13A2c.1113del (p.His372ThrfsTer24)
c.1098del (p.His367ThrfsTer24)
n.721del
n.252del
c.273del (p.His92ThrfsTer24)
c.252del (p.His85ThrfsTer24)
c.1110del (p.His371ThrfsTer24)
c.1086del (p.His363ThrfsTer24)
c.1095del (p.His366ThrfsTer24)
c.1071del (p.His358ThrfsTer24)
c.1083del (p.His362ThrfsTer24)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.16997103C>ACA338255142ATP13A2c.1112G>T (p.Arg371Leu)
c.1097G>T (p.Arg366Leu)
n.720G>T
n.251G>T
c.272G>T (p.Arg91Leu)
c.251G>T (p.Arg84Leu)
c.1109G>T (p.Arg370Leu)
c.1085G>T (p.Arg362Leu)
c.1094G>T (p.Arg365Leu)
c.1070G>T (p.Arg357Leu)
c.1082G>T (p.Arg361Leu)
 gnomAD v4
1g.16997103C=CA1156032803ATP13A2c.1112G= (p.Arg371=)
c.1097G= (p.Arg366=)
n.720G=
n.251G=
c.272G= (p.Arg91=)
c.251G= (p.Arg84=)
c.1109G= (p.Arg370=)
c.1085G= (p.Arg362=)
c.1094G= (p.Arg365=)
c.1070G= (p.Arg357=)
c.1082G= (p.Arg361=)
1g.16997103C>GCA338255143ATP13A2c.1112G>C (p.Arg371Pro)
c.1097G>C (p.Arg366Pro)
n.720G>C
n.251G>C
c.272G>C (p.Arg91Pro)
c.251G>C (p.Arg84Pro)
c.1109G>C (p.Arg370Pro)
c.1085G>C (p.Arg362Pro)
c.1094G>C (p.Arg365Pro)
c.1070G>C (p.Arg357Pro)
c.1082G>C (p.Arg361Pro)
1g.16997103C>TCA637362ATP13A2c.1112G>A (p.Arg371Gln)
c.1097G>A (p.Arg366Gln)
n.720G>A
n.251G>A
c.272G>A (p.Arg91Gln)
c.251G>A (p.Arg84Gln)
c.1109G>A (p.Arg370Gln)
c.1085G>A (p.Arg362Gln)
c.1094G>A (p.Arg365Gln)
c.1070G>A (p.Arg357Gln)
c.1082G>A (p.Arg361Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16997104G>ACA637364ATP13A2c.1111C>T (p.Arg371Trp)
c.1096C>T (p.Arg366Trp)
n.719C>T
n.250C>T
c.271C>T (p.Arg91Trp)
c.250C>T (p.Arg84Trp)
c.1108C>T (p.Arg370Trp)
c.1084C>T (p.Arg362Trp)
c.1093C>T (p.Arg365Trp)
c.1069C>T (p.Arg357Trp)
c.1081C>T (p.Arg361Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.16997104G>CCA637363ATP13A2c.1111C>G (p.Arg371Gly)
c.1096C>G (p.Arg366Gly)
n.719C>G
n.250C>G
c.271C>G (p.Arg91Gly)
c.250C>G (p.Arg84Gly)
c.1108C>G (p.Arg370Gly)
c.1084C>G (p.Arg362Gly)
c.1093C>G (p.Arg365Gly)
c.1069C>G (p.Arg357Gly)
c.1081C>G (p.Arg361Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16997104G=CA1148299699ATP13A2c.1111C= (p.Arg371=)
c.1096C= (p.Arg366=)
n.719C=
n.250C=
c.271C= (p.Arg91=)
c.250C= (p.Arg84=)
c.1108C= (p.Arg370=)
c.1084C= (p.Arg362=)
c.1093C= (p.Arg365=)
c.1069C= (p.Arg357=)
c.1081C= (p.Arg361=)
1g.16997104G>TCA416063404ATP13A2c.1111C>A (p.Arg371=)
c.1096C>A (p.Arg366=)
n.719C>A
n.250C>A
c.271C>A (p.Arg91=)
c.250C>A (p.Arg84=)
c.1108C>A (p.Arg370=)
c.1084C>A (p.Arg362=)
c.1093C>A (p.Arg365=)
c.1069C>A (p.Arg357=)
c.1081C>A (p.Arg361=)
1g.16997105C>ACA637365ATP13A2c.1110G>T (p.Arg370=)
c.1095G>T (p.Arg365=)
n.718G>T
n.249G>T
c.270G>T (p.Arg90=)
c.249G>T (p.Arg83=)
c.1107G>T (p.Arg369=)
c.1083G>T (p.Arg361=)
c.1092G>T (p.Arg364=)
c.1068G>T (p.Arg356=)
c.1080G>T (p.Arg360=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16997105C=CA1156032819ATP13A2c.1110G= (p.Arg370=)
c.1095G= (p.Arg365=)
n.718G=
n.249G=
c.270G= (p.Arg90=)
c.249G= (p.Arg83=)
c.1107G= (p.Arg369=)
c.1083G= (p.Arg361=)
c.1092G= (p.Arg364=)
c.1068G= (p.Arg356=)
c.1080G= (p.Arg360=)
1g.16997105C>GCA416063412ATP13A2c.1110G>C (p.Arg370=)
c.1095G>C (p.Arg365=)
n.718G>C
n.249G>C
c.270G>C (p.Arg90=)
c.249G>C (p.Arg83=)
c.1107G>C (p.Arg369=)
c.1083G>C (p.Arg361=)
c.1092G>C (p.Arg364=)
c.1068G>C (p.Arg356=)
c.1080G>C (p.Arg360=)
 gnomAD v4
1g.16997105C>TCA416063415ATP13A2c.1110G>A (p.Arg370=)
c.1095G>A (p.Arg365=)
n.718G>A
n.249G>A
c.270G>A (p.Arg90=)
c.249G>A (p.Arg83=)
c.1107G>A (p.Arg369=)
c.1083G>A (p.Arg361=)
c.1092G>A (p.Arg364=)
c.1068G>A (p.Arg356=)
c.1080G>A (p.Arg360=)
1g.16997106C>ACA338255149ATP13A2c.1109G>T (p.Arg370Leu)
c.1094G>T (p.Arg365Leu)
n.717G>T
n.248G>T
c.269G>T (p.Arg90Leu)
c.248G>T (p.Arg83Leu)
c.1106G>T (p.Arg369Leu)
c.1082G>T (p.Arg361Leu)
c.1091G>T (p.Arg364Leu)
c.1067G>T (p.Arg356Leu)
c.1079G>T (p.Arg360Leu)
 dbSNP gnomAD v2
1g.16997106C=CA1143682968ATP13A2c.1109G= (p.Arg370=)
c.1094G= (p.Arg365=)
n.717G=
n.248G=
c.269G= (p.Arg90=)
c.248G= (p.Arg83=)
c.1106G= (p.Arg369=)
c.1082G= (p.Arg361=)
c.1091G= (p.Arg364=)
c.1067G= (p.Arg356=)
c.1079G= (p.Arg360=)
1g.16997106C>GCA338255147ATP13A2c.1109G>C (p.Arg370Pro)
c.1094G>C (p.Arg365Pro)
n.717G>C
n.248G>C
c.269G>C (p.Arg90Pro)
c.248G>C (p.Arg83Pro)
c.1106G>C (p.Arg369Pro)
c.1082G>C (p.Arg361Pro)
c.1091G>C (p.Arg364Pro)
c.1067G>C (p.Arg356Pro)
c.1079G>C (p.Arg360Pro)
1g.16997106C>TCA637366ATP13A2c.1109G>A (p.Arg370Gln)
c.1094G>A (p.Arg365Gln)
n.717G>A
n.248G>A
c.269G>A (p.Arg90Gln)
c.248G>A (p.Arg83Gln)
c.1106G>A (p.Arg369Gln)
c.1082G>A (p.Arg361Gln)
c.1091G>A (p.Arg364Gln)
c.1067G>A (p.Arg356Gln)
c.1079G>A (p.Arg360Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16997107G>ACA637367ATP13A2c.1108C>T (p.Arg370Trp)
c.1093C>T (p.Arg365Trp)
n.716C>T
n.247C>T
c.268C>T (p.Arg90Trp)
c.247C>T (p.Arg83Trp)
c.1105C>T (p.Arg369Trp)
c.1081C>T (p.Arg361Trp)
c.1090C>T (p.Arg364Trp)
c.1066C>T (p.Arg356Trp)
c.1078C>T (p.Arg360Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.16997107G>CCA338255151ATP13A2c.1108C>G (p.Arg370Gly)
c.1093C>G (p.Arg365Gly)
n.716C>G
n.247C>G
c.268C>G (p.Arg90Gly)
c.247C>G (p.Arg83Gly)
c.1105C>G (p.Arg369Gly)
c.1081C>G (p.Arg361Gly)
c.1090C>G (p.Arg364Gly)
c.1066C>G (p.Arg356Gly)
c.1078C>G (p.Arg360Gly)
1g.16997107G=CA1141877339ATP13A2c.1108C= (p.Arg370=)
c.1093C= (p.Arg365=)
n.716C=
n.247C=
c.268C= (p.Arg90=)
c.247C= (p.Arg83=)
c.1105C= (p.Arg369=)
c.1081C= (p.Arg361=)
c.1090C= (p.Arg364=)
c.1066C= (p.Arg356=)
c.1078C= (p.Arg360=)
1g.16997107G>TCA416063428ATP13A2c.1108C>A (p.Arg370=)
c.1093C>A (p.Arg365=)
n.716C>A
n.247C>A
c.268C>A (p.Arg90=)
c.247C>A (p.Arg83=)
c.1105C>A (p.Arg369=)
c.1081C>A (p.Arg361=)
c.1090C>A (p.Arg364=)
c.1066C>A (p.Arg356=)
c.1078C>A (p.Arg360=)
1g.16997108G>ACA416063453ATP13A2c.1107C>T (p.His369=)
c.1092C>T (p.His364=)
n.715C>T
n.246C>T
c.267C>T (p.His89=)
c.246C>T (p.His82=)
c.1104C>T (p.His368=)
c.1080C>T (p.His360=)
c.1089C>T (p.His363=)
c.1065C>T (p.His355=)
c.1077C>T (p.His359=)
1g.16997108G>CCA338255153ATP13A2c.1107C>G (p.His369Gln)
c.1092C>G (p.His364Gln)
n.715C>G
n.246C>G
c.267C>G (p.His89Gln)
c.246C>G (p.His82Gln)
c.1104C>G (p.His368Gln)
c.1080C>G (p.His360Gln)
c.1089C>G (p.His363Gln)
c.1065C>G (p.His355Gln)
c.1077C>G (p.His359Gln)
1g.16997108G>TCA338255155ATP13A2c.1107C>A (p.His369Gln)
c.1092C>A (p.His364Gln)
n.715C>A
n.246C>A
c.267C>A (p.His89Gln)
c.246C>A (p.His82Gln)
c.1104C>A (p.His368Gln)
c.1080C>A (p.His360Gln)
c.1089C>A (p.His363Gln)
c.1065C>A (p.His355Gln)
c.1077C>A (p.His359Gln)
1g.16997109T>ACA338255156ATP13A2c.1106A>T (p.His369Leu)
c.1091A>T (p.His364Leu)
n.714A>T
n.245A>T
c.266A>T (p.His89Leu)
c.245A>T (p.His82Leu)
c.1103A>T (p.His368Leu)
c.1079A>T (p.His360Leu)
c.1088A>T (p.His363Leu)
c.1064A>T (p.His355Leu)
c.1076A>T (p.His359Leu)
1g.16997109T>CCA338255157ATP13A2c.1106A>G (p.His369Arg)
c.1091A>G (p.His364Arg)
n.714A>G
n.245A>G
c.266A>G (p.His89Arg)
c.245A>G (p.His82Arg)
c.1103A>G (p.His368Arg)
c.1079A>G (p.His360Arg)
c.1088A>G (p.His363Arg)
c.1064A>G (p.His355Arg)
c.1076A>G (p.His359Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.16997109T>GCA637368ATP13A2c.1106A>C (p.His369Pro)
c.1091A>C (p.His364Pro)
n.714A>C
n.245A>C
c.266A>C (p.His89Pro)
c.245A>C (p.His82Pro)
c.1103A>C (p.His368Pro)
c.1079A>C (p.His360Pro)
c.1088A>C (p.His363Pro)
c.1064A>C (p.His355Pro)
c.1076A>C (p.His359Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16997109T=CA1156032831ATP13A2c.1106A= (p.His369=)
c.1091A= (p.His364=)
n.714A=
n.245A=
c.266A= (p.His89=)
c.245A= (p.His82=)
c.1103A= (p.His368=)
c.1079A= (p.His360=)
c.1088A= (p.His363=)
c.1064A= (p.His355=)
c.1076A= (p.His359=)
1g.16997110G>ACA338255159ATP13A2c.1105C>T (p.His369Tyr)
c.1090C>T (p.His364Tyr)
n.713C>T
n.244C>T
c.265C>T (p.His89Tyr)
c.244C>T (p.His82Tyr)
c.1102C>T (p.His368Tyr)
c.1078C>T (p.His360Tyr)
c.1087C>T (p.His363Tyr)
c.1063C>T (p.His355Tyr)
c.1075C>T (p.His359Tyr)
1g.16997110G>CCA338255161ATP13A2c.1105C>G (p.His369Asp)
c.1090C>G (p.His364Asp)
n.713C>G
n.244C>G
c.265C>G (p.His89Asp)
c.244C>G (p.His82Asp)
c.1102C>G (p.His368Asp)
c.1078C>G (p.His360Asp)
c.1087C>G (p.His363Asp)
c.1063C>G (p.His355Asp)
c.1075C>G (p.His359Asp)
 ClinVar dbSNP
1g.16997110G=CA1156032843ATP13A2c.1105C= (p.His369=)
c.1090C= (p.His364=)
n.713C=
n.244C=
c.265C= (p.His89=)
c.244C= (p.His82=)
c.1102C= (p.His368=)
c.1078C= (p.His360=)
c.1087C= (p.His363=)
c.1063C= (p.His355=)
c.1075C= (p.His359=)
1g.16997110G>TCA338255162ATP13A2c.1105C>A (p.His369Asn)
c.1090C>A (p.His364Asn)
n.713C>A
n.244C>A
c.265C>A (p.His89Asn)
c.244C>A (p.His82Asn)
c.1102C>A (p.His368Asn)
c.1078C>A (p.His360Asn)
c.1087C>A (p.His363Asn)
c.1063C>A (p.His355Asn)
c.1075C>A (p.His359Asn)
1g.16997111T>ACA416063462ATP13A2c.1104A>T (p.Thr368=)
c.1089A>T (p.Thr363=)
n.712A>T
n.243A>T
c.264A>T (p.Thr88=)
c.243A>T (p.Thr81=)
c.1101A>T (p.Thr367=)
c.1077A>T (p.Thr359=)
c.1086A>T (p.Thr362=)
c.1062A>T (p.Thr354=)
c.1074A>T (p.Thr358=)
1g.16997111T>CCA637369ATP13A2c.1104A>G (p.Thr368=)
c.1089A>G (p.Thr363=)
n.712A>G
n.243A>G
c.264A>G (p.Thr88=)
c.243A>G (p.Thr81=)
c.1101A>G (p.Thr367=)
c.1077A>G (p.Thr359=)
c.1086A>G (p.Thr362=)
c.1062A>G (p.Thr354=)
c.1074A>G (p.Thr358=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16997111T>GCA416063467ATP13A2c.1104A>C (p.Thr368=)
c.1089A>C (p.Thr363=)
n.712A>C
n.243A>C
c.264A>C (p.Thr88=)
c.243A>C (p.Thr81=)
c.1101A>C (p.Thr367=)
c.1077A>C (p.Thr359=)
c.1086A>C (p.Thr362=)
c.1062A>C (p.Thr354=)
c.1074A>C (p.Thr358=)
 gnomAD v4
1g.16997111T=CA1156032850ATP13A2c.1104A= (p.Thr368=)
c.1089A= (p.Thr363=)
n.712A=
n.243A=
c.264A= (p.Thr88=)
c.243A= (p.Thr81=)
c.1101A= (p.Thr367=)
c.1077A= (p.Thr359=)
c.1086A= (p.Thr362=)
c.1062A= (p.Thr354=)
c.1074A= (p.Thr358=)
1g.16997112G>ACA18638411ATP13A2c.1103C>T (p.Thr368Ile)
c.1088C>T (p.Thr363Ile)
n.711C>T
n.242C>T
c.263C>T (p.Thr88Ile)
c.242C>T (p.Thr81Ile)
c.1100C>T (p.Thr367Ile)
c.1076C>T (p.Thr359Ile)
c.1085C>T (p.Thr362Ile)
c.1061C>T (p.Thr354Ile)
c.1073C>T (p.Thr358Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16997112G>CCA338255166ATP13A2c.1103C>G (p.Thr368Arg)
c.1088C>G (p.Thr363Arg)
n.711C>G
n.242C>G
c.263C>G (p.Thr88Arg)
c.242C>G (p.Thr81Arg)
c.1100C>G (p.Thr367Arg)
c.1076C>G (p.Thr359Arg)
c.1085C>G (p.Thr362Arg)
c.1061C>G (p.Thr354Arg)
c.1073C>G (p.Thr358Arg)
1g.16997112G=CA1156032859ATP13A2c.1103C= (p.Thr368=)
c.1088C= (p.Thr363=)
n.711C=
n.242C=
c.263C= (p.Thr88=)
c.242C= (p.Thr81=)
c.1100C= (p.Thr367=)
c.1076C= (p.Thr359=)
c.1085C= (p.Thr362=)
c.1061C= (p.Thr354=)
c.1073C= (p.Thr358=)
1g.16997112G>TCA338255164ATP13A2c.1103C>A (p.Thr368Lys)
c.1088C>A (p.Thr363Lys)
n.711C>A
n.242C>A
c.263C>A (p.Thr88Lys)
c.242C>A (p.Thr81Lys)
c.1100C>A (p.Thr367Lys)
c.1076C>A (p.Thr359Lys)
c.1085C>A (p.Thr362Lys)
c.1061C>A (p.Thr354Lys)
c.1073C>A (p.Thr358Lys)
1g.16997113T>ACA338255173ATP13A2c.1102A>T (p.Thr368Ser)
c.1087A>T (p.Thr363Ser)
n.710A>T
n.241A>T
c.262A>T (p.Thr88Ser)
c.241A>T (p.Thr81Ser)
c.1099A>T (p.Thr367Ser)
c.1075A>T (p.Thr359Ser)
c.1084A>T (p.Thr362Ser)
c.1060A>T (p.Thr354Ser)
c.1072A>T (p.Thr358Ser)
1g.16997113T>CCA338255175ATP13A2c.1102A>G (p.Thr368Ala)
c.1087A>G (p.Thr363Ala)
n.710A>G
n.241A>G
c.262A>G (p.Thr88Ala)
c.241A>G (p.Thr81Ala)
c.1099A>G (p.Thr367Ala)
c.1075A>G (p.Thr359Ala)
c.1084A>G (p.Thr362Ala)
c.1060A>G (p.Thr354Ala)
c.1072A>G (p.Thr358Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16997113T>GCA338255171ATP13A2c.1102A>C (p.Thr368Pro)
c.1087A>C (p.Thr363Pro)
n.710A>C
n.241A>C
c.262A>C (p.Thr88Pro)
c.241A>C (p.Thr81Pro)
c.1099A>C (p.Thr367Pro)
c.1075A>C (p.Thr359Pro)
c.1084A>C (p.Thr362Pro)
c.1060A>C (p.Thr354Pro)
c.1072A>C (p.Thr358Pro)
1g.16997113T=CA1156032872ATP13A2c.1102A= (p.Thr368=)
c.1087A= (p.Thr363=)
n.710A=
n.241A=
c.262A= (p.Thr88=)
c.241A= (p.Thr81=)
c.1099A= (p.Thr367=)
c.1075A= (p.Thr359=)
c.1084A= (p.Thr362=)
c.1060A= (p.Thr354=)
c.1072A= (p.Thr358=)
1g.16997116_16997117dupCA259915ATP13A2c.1101_1102dup (p.Thr368ArgfsTer29)
c.1086_1087dup (p.Thr363ArgfsTer29)
n.709_710dup
n.240_241dup
c.261_262dup (p.Thr88ArgfsTer29)
c.240_241dup (p.Thr81ArgfsTer29)
c.1098_1099dup (p.Thr367ArgfsTer29)
c.1074_1075dup (p.Thr359ArgfsTer29)
c.1083_1084dup (p.Thr362ArgfsTer29)
c.1059_1060dup (p.Thr354ArgfsTer29)
c.1071_1072dup (p.Thr358ArgfsTer29)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16997114C>ACA338255176ATP13A2c.1101G>T (p.Glu367Asp)
c.1086G>T (p.Glu362Asp)
n.709G>T
n.240G>T
c.261G>T (p.Glu87Asp)
c.240G>T (p.Glu80Asp)
c.1098G>T (p.Glu366Asp)
c.1074G>T (p.Glu358Asp)
c.1083G>T (p.Glu361Asp)
c.1059G>T (p.Glu353Asp)
c.1071G>T (p.Glu357Asp)
1g.16997114C>GCA338255177ATP13A2c.1101G>C (p.Glu367Asp)
c.1086G>C (p.Glu362Asp)
n.709G>C
n.240G>C
c.261G>C (p.Glu87Asp)
c.240G>C (p.Glu80Asp)
c.1098G>C (p.Glu366Asp)
c.1074G>C (p.Glu358Asp)
c.1083G>C (p.Glu361Asp)
c.1059G>C (p.Glu353Asp)
c.1071G>C (p.Glu357Asp)
1g.16997114C>TCA416063492ATP13A2c.1101G>A (p.Glu367=)
c.1086G>A (p.Glu362=)
n.709G>A
n.240G>A
c.261G>A (p.Glu87=)
c.240G>A (p.Glu80=)
c.1098G>A (p.Glu366=)
c.1074G>A (p.Glu358=)
c.1083G>A (p.Glu361=)
c.1059G>A (p.Glu353=)
c.1071G>A (p.Glu357=)
1g.16997115T>ACA338255179ATP13A2c.1100A>T (p.Glu367Val)
c.1085A>T (p.Glu362Val)
n.708A>T
n.239A>T
c.260A>T (p.Glu87Val)
c.239A>T (p.Glu80Val)
c.1097A>T (p.Glu366Val)
c.1073A>T (p.Glu358Val)
c.1082A>T (p.Glu361Val)
c.1058A>T (p.Glu353Val)
c.1070A>T (p.Glu357Val)
1g.16997115T>CCA338255181ATP13A2c.1100A>G (p.Glu367Gly)
c.1085A>G (p.Glu362Gly)
n.708A>G
n.239A>G
c.260A>G (p.Glu87Gly)
c.239A>G (p.Glu80Gly)
c.1097A>G (p.Glu366Gly)
c.1073A>G (p.Glu358Gly)
c.1082A>G (p.Glu361Gly)
c.1058A>G (p.Glu353Gly)
c.1070A>G (p.Glu357Gly)
1g.16997115T>GCA338255182ATP13A2c.1100A>C (p.Glu367Ala)
c.1085A>C (p.Glu362Ala)
n.708A>C
n.239A>C
c.260A>C (p.Glu87Ala)
c.239A>C (p.Glu80Ala)
c.1097A>C (p.Glu366Ala)
c.1073A>C (p.Glu358Ala)
c.1082A>C (p.Glu361Ala)
c.1058A>C (p.Glu353Ala)
c.1070A>C (p.Glu357Ala)
1g.16997116C>ACA338255184ATP13A2c.1099G>T (p.Glu367Ter)
c.1084G>T (p.Glu362Ter)
n.707G>T
n.238G>T
c.259G>T (p.Glu87Ter)
c.238G>T (p.Glu80Ter)
c.1096G>T (p.Glu366Ter)
c.1072G>T (p.Glu358Ter)
c.1081G>T (p.Glu361Ter)
c.1057G>T (p.Glu353Ter)
c.1069G>T (p.Glu357Ter)
1g.16997116C=CA1156032879ATP13A2c.1099G= (p.Glu367=)
c.1084G= (p.Glu362=)
n.707G=
n.238G=
c.259G= (p.Glu87=)
c.238G= (p.Glu80=)
c.1096G= (p.Glu366=)
c.1072G= (p.Glu358=)
c.1081G= (p.Glu361=)
c.1057G= (p.Glu353=)
c.1069G= (p.Glu357=)
1g.16997116C>GCA338255186ATP13A2c.1099G>C (p.Glu367Gln)
c.1084G>C (p.Glu362Gln)
n.707G>C
n.238G>C
c.259G>C (p.Glu87Gln)
c.238G>C (p.Glu80Gln)
c.1096G>C (p.Glu366Gln)
c.1072G>C (p.Glu358Gln)
c.1081G>C (p.Glu361Gln)
c.1057G>C (p.Glu353Gln)
c.1069G>C (p.Glu357Gln)
1g.16997116C>TCA637370ATP13A2c.1099G>A (p.Glu367Lys)
c.1084G>A (p.Glu362Lys)
n.707G>A
n.238G>A
c.259G>A (p.Glu87Lys)
c.238G>A (p.Glu80Lys)
c.1096G>A (p.Glu366Lys)
c.1072G>A (p.Glu358Lys)
c.1081G>A (p.Glu361Lys)
c.1057G>A (p.Glu353Lys)
c.1069G>A (p.Glu357Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.16997117T>ACA416063501ATP13A2c.1098A>T (p.Ala366=)
c.1083A>T (p.Ala361=)
n.706A>T
n.237A>T
c.258A>T (p.Ala86=)
c.237A>T (p.Ala79=)
c.1095A>T (p.Ala365=)
c.1071A>T (p.Ala357=)
c.1080A>T (p.Ala360=)
c.1056A>T (p.Ala352=)
c.1068A>T (p.Ala356=)
1g.16997117T>CCA416063504ATP13A2c.1098A>G (p.Ala366=)
c.1083A>G (p.Ala361=)
n.706A>G
n.237A>G
c.258A>G (p.Ala86=)
c.237A>G (p.Ala79=)
c.1095A>G (p.Ala365=)
c.1071A>G (p.Ala357=)
c.1080A>G (p.Ala360=)
c.1056A>G (p.Ala352=)
c.1068A>G (p.Ala356=)
 gnomAD v4
1g.16997117T>GCA416063506ATP13A2c.1098A>C (p.Ala366=)
c.1083A>C (p.Ala361=)
n.706A>C
n.237A>C
c.258A>C (p.Ala86=)
c.237A>C (p.Ala79=)
c.1095A>C (p.Ala365=)
c.1071A>C (p.Ala357=)
c.1080A>C (p.Ala360=)
c.1056A>C (p.Ala352=)
c.1068A>C (p.Ala356=)
1g.16997118G>ACA338255188ATP13A2c.1097C>T (p.Ala366Val)
c.1082C>T (p.Ala361Val)
n.705C>T
n.236C>T
c.257C>T (p.Ala86Val)
c.236C>T (p.Ala79Val)
c.1094C>T (p.Ala365Val)
c.1070C>T (p.Ala357Val)
c.1079C>T (p.Ala360Val)
c.1055C>T (p.Ala352Val)
c.1067C>T (p.Ala356Val)
1g.16997118G>CCA338255190ATP13A2c.1097C>G (p.Ala366Gly)
c.1082C>G (p.Ala361Gly)
n.705C>G
n.236C>G
c.257C>G (p.Ala86Gly)
c.236C>G (p.Ala79Gly)
c.1094C>G (p.Ala365Gly)
c.1070C>G (p.Ala357Gly)
c.1079C>G (p.Ala360Gly)
c.1055C>G (p.Ala352Gly)
c.1067C>G (p.Ala356Gly)
1g.16997118G>TCA338255192ATP13A2c.1097C>A (p.Ala366Glu)
c.1082C>A (p.Ala361Glu)
n.705C>A
n.236C>A
c.257C>A (p.Ala86Glu)
c.236C>A (p.Ala79Glu)
c.1094C>A (p.Ala365Glu)
c.1070C>A (p.Ala357Glu)
c.1079C>A (p.Ala360Glu)
c.1055C>A (p.Ala352Glu)
c.1067C>A (p.Ala356Glu)
1g.16997119C>ACA338255195ATP13A2c.1096G>T (p.Ala366Ser)
c.1081G>T (p.Ala361Ser)
n.704G>T
n.235G>T
c.256G>T (p.Ala86Ser)
c.235G>T (p.Ala79Ser)
c.1093G>T (p.Ala365Ser)
c.1069G>T (p.Ala357Ser)
c.1078G>T (p.Ala360Ser)
c.1054G>T (p.Ala352Ser)
c.1066G>T (p.Ala356Ser)
 gnomAD v4
1g.16997119C=CA1156032882ATP13A2c.1096G= (p.Ala366=)
c.1081G= (p.Ala361=)
n.704G=
n.235G=
c.256G= (p.Ala86=)
c.235G= (p.Ala79=)
c.1093G= (p.Ala365=)
c.1069G= (p.Ala357=)
c.1078G= (p.Ala360=)
c.1054G= (p.Ala352=)
c.1066G= (p.Ala356=)
1g.16997119C>GCA338255193ATP13A2c.1096G>C (p.Ala366Pro)
c.1081G>C (p.Ala361Pro)
n.704G>C
n.235G>C
c.256G>C (p.Ala86Pro)
c.235G>C (p.Ala79Pro)
c.1093G>C (p.Ala365Pro)
c.1069G>C (p.Ala357Pro)
c.1078G>C (p.Ala360Pro)
c.1054G>C (p.Ala352Pro)
c.1066G>C (p.Ala356Pro)
1g.16997119C>TCA338255194ATP13A2c.1096G>A (p.Ala366Thr)
c.1081G>A (p.Ala361Thr)
n.704G>A
n.235G>A
c.256G>A (p.Ala86Thr)
c.235G>A (p.Ala79Thr)
c.1093G>A (p.Ala365Thr)
c.1069G>A (p.Ala357Thr)
c.1078G>A (p.Ala360Thr)
c.1054G>A (p.Ala352Thr)
c.1066G>A (p.Ala356Thr)
 dbSNP gnomAD v4
1g.16997120A>CCA338255196ATP13A2c.1095T>G (p.Cys365Trp)
c.1080T>G (p.Cys360Trp)
n.703T>G
n.234T>G
c.255T>G (p.Cys85Trp)
c.234T>G (p.Cys78Trp)
c.1092T>G (p.Cys364Trp)
c.1068T>G (p.Cys356Trp)
c.1077T>G (p.Cys359Trp)
c.1053T>G (p.Cys351Trp)
c.1065T>G (p.Cys355Trp)
 COSMIC
1g.16997120A>GCA416063516ATP13A2c.1095T>C (p.Cys365=)
c.1080T>C (p.Cys360=)
n.703T>C
n.234T>C
c.255T>C (p.Cys85=)
c.234T>C (p.Cys78=)
c.1092T>C (p.Cys364=)
c.1068T>C (p.Cys356=)
c.1077T>C (p.Cys359=)
c.1053T>C (p.Cys351=)
c.1065T>C (p.Cys355=)
 ClinVar dbSNP gnomAD v4
1g.16997120A>TCA338255197ATP13A2c.1095T>A (p.Cys365Ter)
c.1080T>A (p.Cys360Ter)
n.703T>A
n.234T>A
c.255T>A (p.Cys85Ter)
c.234T>A (p.Cys78Ter)
c.1092T>A (p.Cys364Ter)
c.1068T>A (p.Cys356Ter)
c.1077T>A (p.Cys359Ter)
c.1053T>A (p.Cys351Ter)
c.1065T>A (p.Cys355Ter)
1g.16997121C>ACA637371ATP13A2c.1094G>T (p.Cys365Phe)
c.1079G>T (p.Cys360Phe)
n.702G>T
n.233G>T
c.254G>T (p.Cys85Phe)
c.233G>T (p.Cys78Phe)
c.1091G>T (p.Cys364Phe)
c.1067G>T (p.Cys356Phe)
c.1076G>T (p.Cys359Phe)
c.1052G>T (p.Cys351Phe)
c.1064G>T (p.Cys355Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16997121C=CA1156032886ATP13A2c.1094G= (p.Cys365=)
c.1079G= (p.Cys360=)
n.702G=
n.233G=
c.254G= (p.Cys85=)
c.233G= (p.Cys78=)
c.1091G= (p.Cys364=)
c.1067G= (p.Cys356=)
c.1076G= (p.Cys359=)
c.1052G= (p.Cys351=)
c.1064G= (p.Cys355=)
1g.16997121C>GCA338255199ATP13A2c.1094G>C (p.Cys365Ser)
c.1079G>C (p.Cys360Ser)
n.702G>C
n.233G>C
c.254G>C (p.Cys85Ser)
c.233G>C (p.Cys78Ser)
c.1091G>C (p.Cys364Ser)
c.1067G>C (p.Cys356Ser)
c.1076G>C (p.Cys359Ser)
c.1052G>C (p.Cys351Ser)
c.1064G>C (p.Cys355Ser)
 gnomAD v4
1g.16997121C>TCA338255200ATP13A2c.1094G>A (p.Cys365Tyr)
c.1079G>A (p.Cys360Tyr)
n.702G>A
n.233G>A
c.254G>A (p.Cys85Tyr)
c.233G>A (p.Cys78Tyr)
c.1091G>A (p.Cys364Tyr)
c.1067G>A (p.Cys356Tyr)
c.1076G>A (p.Cys359Tyr)
c.1052G>A (p.Cys351Tyr)
c.1064G>A (p.Cys355Tyr)
 dbSNP
1g.16997122A=CA1156032889ATP13A2c.1093T= (p.Cys365=)
c.1078T= (p.Cys360=)
n.701T=
n.232T=
c.253T= (p.Cys85=)
c.232T= (p.Cys78=)
c.1090T= (p.Cys364=)
c.1066T= (p.Cys356=)
c.1075T= (p.Cys359=)
c.1051T= (p.Cys351=)
c.1063T= (p.Cys355=)
1g.16997122A>CCA338255201ATP13A2c.1093T>G (p.Cys365Gly)
c.1078T>G (p.Cys360Gly)
n.701T>G
n.232T>G
c.253T>G (p.Cys85Gly)
c.232T>G (p.Cys78Gly)
c.1090T>G (p.Cys364Gly)
c.1066T>G (p.Cys356Gly)
c.1075T>G (p.Cys359Gly)
c.1051T>G (p.Cys351Gly)
c.1063T>G (p.Cys355Gly)
1g.16997122A>GCA338255203ATP13A2c.1093T>C (p.Cys365Arg)
c.1078T>C (p.Cys360Arg)
n.701T>C
n.232T>C
c.253T>C (p.Cys85Arg)
c.232T>C (p.Cys78Arg)
c.1090T>C (p.Cys364Arg)
c.1066T>C (p.Cys356Arg)
c.1075T>C (p.Cys359Arg)
c.1051T>C (p.Cys351Arg)
c.1063T>C (p.Cys355Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.16997122A>TCA338255204ATP13A2c.1093T>A (p.Cys365Ser)
c.1078T>A (p.Cys360Ser)
n.701T>A
n.232T>A
c.253T>A (p.Cys85Ser)
c.232T>A (p.Cys78Ser)
c.1090T>A (p.Cys364Ser)
c.1066T>A (p.Cys356Ser)
c.1075T>A (p.Cys359Ser)
c.1051T>A (p.Cys351Ser)
c.1063T>A (p.Cys355Ser)
1g.16997123G>ACA416063559ATP13A2c.1092C>T (p.Tyr364=)
c.1077C>T (p.Tyr359=)
n.700C>T
n.231C>T
c.252C>T (p.Tyr84=)
c.231C>T (p.Tyr77=)
c.1089C>T (p.Tyr363=)
c.1065C>T (p.Tyr355=)
c.1074C>T (p.Tyr358=)
c.1050C>T (p.Tyr350=)
c.1062C>T (p.Tyr354=)
1g.16997123G>CCA338255206ATP13A2c.1092C>G (p.Tyr364Ter)
c.1077C>G (p.Tyr359Ter)
n.700C>G
n.231C>G
c.252C>G (p.Tyr84Ter)
c.231C>G (p.Tyr77Ter)
c.1089C>G (p.Tyr363Ter)
c.1065C>G (p.Tyr355Ter)
c.1074C>G (p.Tyr358Ter)
c.1050C>G (p.Tyr350Ter)
c.1062C>G (p.Tyr354Ter)
1g.16997123G>TCA338255208ATP13A2c.1092C>A (p.Tyr364Ter)
c.1077C>A (p.Tyr359Ter)
n.700C>A
n.231C>A
c.252C>A (p.Tyr84Ter)
c.231C>A (p.Tyr77Ter)
c.1089C>A (p.Tyr363Ter)
c.1065C>A (p.Tyr355Ter)
c.1074C>A (p.Tyr358Ter)
c.1050C>A (p.Tyr350Ter)
c.1062C>A (p.Tyr354Ter)
1g.16997124T>ACA338255211ATP13A2c.1091A>T (p.Tyr364Phe)
c.1076A>T (p.Tyr359Phe)
n.699A>T
n.230A>T
c.251A>T (p.Tyr84Phe)
c.230A>T (p.Tyr77Phe)
c.1088A>T (p.Tyr363Phe)
c.1064A>T (p.Tyr355Phe)
c.1073A>T (p.Tyr358Phe)
c.1049A>T (p.Tyr350Phe)
c.1061A>T (p.Tyr354Phe)
1g.16997124T>CCA338255210ATP13A2c.1091A>G (p.Tyr364Cys)
c.1076A>G (p.Tyr359Cys)
n.699A>G
n.230A>G
c.251A>G (p.Tyr84Cys)
c.230A>G (p.Tyr77Cys)
c.1088A>G (p.Tyr363Cys)
c.1064A>G (p.Tyr355Cys)
c.1073A>G (p.Tyr358Cys)
c.1049A>G (p.Tyr350Cys)
c.1061A>G (p.Tyr354Cys)
1g.16997124T>GCA637372ATP13A2c.1091A>C (p.Tyr364Ser)
c.1076A>C (p.Tyr359Ser)
n.699A>C
n.230A>C
c.251A>C (p.Tyr84Ser)
c.230A>C (p.Tyr77Ser)
c.1088A>C (p.Tyr363Ser)
c.1064A>C (p.Tyr355Ser)
c.1073A>C (p.Tyr358Ser)
c.1049A>C (p.Tyr350Ser)
c.1061A>C (p.Tyr354Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16997124T=CA1141652103ATP13A2c.1091A= (p.Tyr364=)
c.1076A= (p.Tyr359=)
n.699A=
n.230A=
c.251A= (p.Tyr84=)
c.230A= (p.Tyr77=)
c.1088A= (p.Tyr363=)
c.1064A= (p.Tyr355=)
c.1073A= (p.Tyr358=)
c.1049A= (p.Tyr350=)
c.1061A= (p.Tyr354=)

Number of alleles fetched