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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.132680753T>A | CA2607841208 | NPHP3,NPHP3-ACAD11 | c.*1157A>T (n.*1157A>T) c.*1980+1161A>T (n.*1980+1161A>T) n.4349A>T c.636+1161A>T n.3995+1161A>T | dbSNP gnomAD v4 |
| 3 | g.132680753T>C | CA1402644350 | NPHP3,NPHP3-ACAD11 | c.*1157A>G (n.*1157A>G) c.*1980+1161A>G (n.*1980+1161A>G) n.4349A>G c.636+1161A>G n.3995+1161A>G | dbSNP |
| 3 | g.132680753T= | CA1402644349 | NPHP3,NPHP3-ACAD11 | c.*1157A= (n.*1157A=) c.*1980+1161A= (n.*1980+1161A=) n.4349A= c.636+1161A= n.3995+1161A= | |
| 3 | g.132680754C>A | CA1053649544 | NPHP3,NPHP3-ACAD11 | c.*1156G>T (n.*1156G>T) c.*1980+1160G>T (n.*1980+1160G>T) n.4348G>T c.636+1160G>T n.3995+1160G>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680754C= | CA1402644352 | NPHP3,NPHP3-ACAD11 | c.*1156G= (n.*1156G=) c.*1980+1160G= (n.*1980+1160G=) n.4348G= c.636+1160G= n.3995+1160G= | |
| 3 | g.132680756A= | CA1402644354 | NPHP3,NPHP3-ACAD11 | c.*1154T= (n.*1154T=) c.*1980+1158T= (n.*1980+1158T=) n.4346T= c.636+1158T= n.3995+1158T= | |
| 3 | g.132680756A>G | CA1402644356 | NPHP3,NPHP3-ACAD11 | c.*1154T>C (n.*1154T>C) c.*1980+1158T>C (n.*1980+1158T>C) n.4346T>C c.636+1158T>C n.3995+1158T>C | dbSNP |
| 3 | g.132680758A= | CA1402644358 | NPHP3,NPHP3-ACAD11 | c.*1152T= (n.*1152T=) c.*1980+1156T= (n.*1980+1156T=) n.4344T= c.636+1156T= n.3995+1156T= | |
| 3 | g.132680758A>T | CA83579344 | NPHP3,NPHP3-ACAD11 | c.*1152T>A (n.*1152T>A) c.*1980+1156T>A (n.*1980+1156T>A) n.4344T>A c.636+1156T>A n.3995+1156T>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680761G>T | CA2758453488 | NPHP3,NPHP3-ACAD11 | c.*1149C>A (n.*1149C>A) c.*1980+1153C>A (n.*1980+1153C>A) n.4341C>A c.636+1153C>A n.3995+1153C>A | |
| 3 | g.132680763T>G | CA1053649548 | NPHP3,NPHP3-ACAD11 | c.*1147A>C (n.*1147A>C) c.*1980+1151A>C (n.*1980+1151A>C) n.4339A>C c.636+1151A>C n.3995+1151A>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680763T= | CA1402644360 | NPHP3,NPHP3-ACAD11 | c.*1147A= (n.*1147A=) c.*1980+1151A= (n.*1980+1151A=) n.4339A= c.636+1151A= n.3995+1151A= | |
| 3 | g.132680764G>A | CA546265319 | NPHP3,NPHP3-ACAD11 | c.*1146C>T (n.*1146C>T) c.*1980+1150C>T (n.*1980+1150C>T) n.4338C>T c.636+1150C>T n.3995+1150C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.132680764G= | CA1402644361 | NPHP3,NPHP3-ACAD11 | c.*1146C= (n.*1146C=) c.*1980+1150C= (n.*1980+1150C=) n.4338C= c.636+1150C= n.3995+1150C= | |
| 3 | g.132680764_132680766del | CA2758453489 | NPHP3,NPHP3-ACAD11 | c.*1144_*1146del (n.*1144_*1146del) c.*1980+1148_*1980+1150del (n.*1980+1148_*1980+1150del) n.4336_4338del c.636+1148_636+1150del n.3995+1148_3995+1150del | |
| 3 | g.132680766A= | CA1402644363 | NPHP3,NPHP3-ACAD11 | c.*1144T= (n.*1144T=) c.*1980+1148T= (n.*1980+1148T=) n.4336T= c.636+1148T= n.3995+1148T= | |
| 3 | g.132680766A>C | CA1053649553 | NPHP3,NPHP3-ACAD11 | c.*1144T>G (n.*1144T>G) c.*1980+1148T>G (n.*1980+1148T>G) n.4336T>G c.636+1148T>G n.3995+1148T>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680766A>G | CA1402644364 | NPHP3,NPHP3-ACAD11 | c.*1144T>C (n.*1144T>C) c.*1980+1148T>C (n.*1980+1148T>C) n.4336T>C c.636+1148T>C n.3995+1148T>C | dbSNP |
| 3 | g.132680767A= | CA1402644366 | NPHP3,NPHP3-ACAD11 | c.*1143T= (n.*1143T=) c.*1980+1147T= (n.*1980+1147T=) n.4335T= c.636+1147T= n.3995+1147T= | |
| 3 | g.132680767A>G | CA899012660 | NPHP3,NPHP3-ACAD11 | c.*1143T>C (n.*1143T>C) c.*1980+1147T>C (n.*1980+1147T>C) n.4335T>C c.636+1147T>C n.3995+1147T>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680768T>G | CA2758453490 | NPHP3,NPHP3-ACAD11 | c.*1142A>C (n.*1142A>C) c.*1980+1146A>C (n.*1980+1146A>C) n.4334A>C c.636+1146A>C n.3995+1146A>C | |
| 3 | g.132680770T>C | CA899012665 | NPHP3,NPHP3-ACAD11 | c.*1140A>G (n.*1140A>G) c.*1980+1144A>G (n.*1980+1144A>G) n.4332A>G c.636+1144A>G n.3995+1144A>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680770T= | CA1402644368 | NPHP3,NPHP3-ACAD11 | c.*1140A= (n.*1140A=) c.*1980+1144A= (n.*1980+1144A=) n.4332A= c.636+1144A= n.3995+1144A= | |
| 3 | g.132680773A>T | CA2703982459 | NPHP3,NPHP3-ACAD11 | c.*1137T>A (n.*1137T>A) c.*1980+1141T>A (n.*1980+1141T>A) n.4329T>A c.636+1141T>A n.3995+1141T>A | dbSNP |
| 3 | g.132680774T>C | CA2515046268 | NPHP3,NPHP3-ACAD11 | c.*1136A>G (n.*1136A>G) c.*1980+1140A>G (n.*1980+1140A>G) n.4328A>G c.636+1140A>G n.3995+1140A>G | |
| 3 | g.132680775A= | CA1402644370 | NPHP3,NPHP3-ACAD11 | c.*1135T= (n.*1135T=) c.*1980+1139T= (n.*1980+1139T=) n.4327T= c.636+1139T= n.3995+1139T= | |
| 3 | g.132680775A>G | CA899012668 | NPHP3,NPHP3-ACAD11 | c.*1135T>C (n.*1135T>C) c.*1980+1139T>C (n.*1980+1139T>C) n.4327T>C c.636+1139T>C n.3995+1139T>C | dbSNP |
| 3 | g.132680777A>G | CA2758453491 | NPHP3,NPHP3-ACAD11 | c.*1133T>C (n.*1133T>C) c.*1980+1137T>C (n.*1980+1137T>C) n.4325T>C c.636+1137T>C n.3995+1137T>C | |
| 3 | g.132680780C>A | CA899012673 | NPHP3,NPHP3-ACAD11 | c.*1130G>T (n.*1130G>T) c.*1980+1134G>T (n.*1980+1134G>T) n.4322G>T c.636+1134G>T n.3995+1134G>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680780C= | CA1402644372 | NPHP3,NPHP3-ACAD11 | c.*1130G= (n.*1130G=) c.*1980+1134G= (n.*1980+1134G=) n.4322G= c.636+1134G= n.3995+1134G= | |
| 3 | g.132680780C>T | CA83579345 | NPHP3,NPHP3-ACAD11 | c.*1130G>A (n.*1130G>A) c.*1980+1134G>A (n.*1980+1134G>A) n.4322G>A c.636+1134G>A n.3995+1134G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680781C= | CA1402644374 | NPHP3,NPHP3-ACAD11 | c.*1129G= (n.*1129G=) c.*1980+1133G= (n.*1980+1133G=) n.4321G= c.636+1133G= n.3995+1133G= | |
| 3 | g.132680781C>T | CA899012674 | NPHP3,NPHP3-ACAD11 | c.*1129G>A (n.*1129G>A) c.*1980+1133G>A (n.*1980+1133G>A) n.4321G>A c.636+1133G>A n.3995+1133G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680782A= | CA1402644376 | NPHP3,NPHP3-ACAD11 | c.*1128T= (n.*1128T=) c.*1980+1132T= (n.*1980+1132T=) n.4320T= c.636+1132T= n.3995+1132T= | |
| 3 | g.132680782A>C | CA83579348 | NPHP3,NPHP3-ACAD11 | c.*1128T>G (n.*1128T>G) c.*1980+1132T>G (n.*1980+1132T>G) n.4320T>G c.636+1132T>G n.3995+1132T>G | dbSNP |
| 3 | g.132680782A>G | CA83579350 | NPHP3,NPHP3-ACAD11 | c.*1128T>C (n.*1128T>C) c.*1980+1132T>C (n.*1980+1132T>C) n.4320T>C c.636+1132T>C n.3995+1132T>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680783_132680785delinsTAA | CA1402644379 | NPHP3,NPHP3-ACAD11 | c.*1125_*1127delinsTTA (n.*1125_*1127delinsTTA) c.*1980+1129_*1980+1131delinsTTA (n.*1980+1129_*1980+1131delinsTTA) n.4317_4319delinsTTA c.636+1129_636+1131delinsTTA n.3995+1129_3995+1131delinsTTA | |
| 3 | g.132680788dup | CA1402644381 | NPHP3,NPHP3-ACAD11 | c.*1126dup (n.*1126dup) c.*1980+1130dup (n.*1980+1130dup) n.4318dup c.636+1130dup n.3995+1130dup | dbSNP |
| 3 | g.132680787_132680788del | CA899012684 | NPHP3,NPHP3-ACAD11 | c.*1125_*1126del (n.*1125_*1126del) c.*1980+1129_*1980+1130del (n.*1980+1129_*1980+1130del) n.4317_4318del c.636+1129_636+1130del n.3995+1129_3995+1130del | dbSNP |
| 3 | g.132680786_132680789delinsAAAT | CA1402644382 | NPHP3,NPHP3-ACAD11 | c.*1121_*1124delinsATTT (n.*1121_*1124delinsATTT) c.*1980+1125_*1980+1128delinsATTT (n.*1980+1125_*1980+1128delinsATTT) n.4313_4316delinsATTT c.636+1125_636+1128delinsATTT n.3995+1125_3995+1128delinsATTT | |
| 3 | g.132680787_132680789delinsAAT | CA1402644384 | NPHP3,NPHP3-ACAD11 | c.*1121_*1123delinsATT (n.*1121_*1123delinsATT) c.*1980+1125_*1980+1127delinsATT (n.*1980+1125_*1980+1127delinsATT) n.4313_4315delinsATT c.636+1125_636+1127delinsATT n.3995+1125_3995+1127delinsATT | |
| 3 | g.132680788_132680790del | CA1402644385 | NPHP3,NPHP3-ACAD11 | c.*1121_*1123del (n.*1121_*1123del) c.*1980+1125_*1980+1127del (n.*1980+1125_*1980+1127del) n.4313_4315del c.636+1125_636+1127del n.3995+1125_3995+1127del | dbSNP |
| 3 | g.132680790_132680791del | CA1053649562 | NPHP3,NPHP3-ACAD11 | c.*1121_*1122del (n.*1121_*1122del) c.*1980+1125_*1980+1126del (n.*1980+1125_*1980+1126del) n.4313_4314del c.636+1125_636+1126del n.3995+1125_3995+1126del | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680789T>C | CA10614889 | NPHP3,NPHP3-ACAD11 | c.*1121A>G (n.*1121A>G) c.*1980+1125A>G (n.*1980+1125A>G) n.4313A>G c.636+1125A>G n.3995+1125A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.132680789T= | CA1402644389 | NPHP3,NPHP3-ACAD11 | c.*1121A= (n.*1121A=) c.*1980+1125A= (n.*1980+1125A=) n.4313A= c.636+1125A= n.3995+1125A= | |
| 3 | g.132680790A= | CA1402644394 | NPHP3,NPHP3-ACAD11 | c.*1120T= (n.*1120T=) c.*1980+1124T= (n.*1980+1124T=) n.4312T= c.636+1124T= n.3995+1124T= | |
| 3 | g.132680790A>G | CA1053649570 | NPHP3,NPHP3-ACAD11 | c.*1120T>C (n.*1120T>C) c.*1980+1124T>C (n.*1980+1124T>C) n.4312T>C c.636+1124T>C n.3995+1124T>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680791T>C | CA1402644396 | NPHP3,NPHP3-ACAD11 | c.*1119A>G (n.*1119A>G) c.*1980+1123A>G (n.*1980+1123A>G) n.4311A>G c.636+1123A>G n.3995+1123A>G | dbSNP |
| 3 | g.132680791T= | CA1402644395 | NPHP3,NPHP3-ACAD11 | c.*1119A= (n.*1119A=) c.*1980+1123A= (n.*1980+1123A=) n.4311A= c.636+1123A= n.3995+1123A= | |
| 3 | g.132680805T>C | CA1402644400 | NPHP3,NPHP3-ACAD11 | c.*1105A>G (n.*1105A>G) c.*1980+1109A>G (n.*1980+1109A>G) n.4297A>G c.636+1109A>G n.3995+1109A>G | dbSNP |
| 3 | g.132680805T= | CA1402644399 | NPHP3,NPHP3-ACAD11 | c.*1105A= (n.*1105A=) c.*1980+1109A= (n.*1980+1109A=) n.4297A= c.636+1109A= n.3995+1109A= | |
| 3 | g.132680806G= | CA1402644402 | NPHP3,NPHP3-ACAD11 | c.*1104C= (n.*1104C=) c.*1980+1108C= (n.*1980+1108C=) n.4296C= c.636+1108C= n.3995+1108C= | |
| 3 | g.132680806G>T | CA1402644403 | NPHP3,NPHP3-ACAD11 | c.*1104C>A (n.*1104C>A) c.*1980+1108C>A (n.*1980+1108C>A) n.4296C>A c.636+1108C>A n.3995+1108C>A | dbSNP |
| 3 | g.132680812G>A | CA10615342 | NPHP3,NPHP3-ACAD11 | c.*1098C>T (n.*1098C>T) c.*1980+1102C>T (n.*1980+1102C>T) n.4290C>T c.636+1102C>T n.3995+1102C>T | ClinVar dbSNP |
| 3 | g.132680812G= | CA1402644405 | NPHP3,NPHP3-ACAD11 | c.*1098C= (n.*1098C=) c.*1980+1102C= (n.*1980+1102C=) n.4290C= c.636+1102C= n.3995+1102C= | |
| 3 | g.132680816T>C | CA1139658261 | NPHP3,NPHP3-ACAD11 | c.*1094A>G (n.*1094A>G) c.*1980+1098A>G (n.*1980+1098A>G) n.4286A>G c.636+1098A>G n.3995+1098A>G | ClinVar dbSNP |
| 3 | g.132680816T= | CA1402644406 | NPHP3,NPHP3-ACAD11 | c.*1094A= (n.*1094A=) c.*1980+1098A= (n.*1980+1098A=) n.4286A= c.636+1098A= n.3995+1098A= | |
| 3 | g.132680817A= | CA1402644408 | NPHP3,NPHP3-ACAD11 | c.*1093T= (n.*1093T=) c.*1980+1097T= (n.*1980+1097T=) n.4285T= c.636+1097T= n.3995+1097T= | |
| 3 | g.132680817A>C | CA899012694 | NPHP3,NPHP3-ACAD11 | c.*1093T>G (n.*1093T>G) c.*1980+1097T>G (n.*1980+1097T>G) n.4285T>G c.636+1097T>G n.3995+1097T>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680819T>C | CA2667735688 | NPHP3,NPHP3-ACAD11 | c.*1091A>G (n.*1091A>G) c.*1980+1095A>G (n.*1980+1095A>G) n.4283A>G c.636+1095A>G n.3995+1095A>G | gnomAD v4 |
| 3 | g.132680825G>T | CA2667735689 | NPHP3,NPHP3-ACAD11 | c.*1085C>A (n.*1085C>A) c.*1980+1089C>A (n.*1980+1089C>A) n.4277C>A c.636+1089C>A n.3995+1089C>A | gnomAD v4 |
| 3 | g.132680831G>A | CA83579357 | NPHP3,NPHP3-ACAD11 | c.*1079C>T (n.*1079C>T) c.*1980+1083C>T (n.*1980+1083C>T) n.4271C>T c.636+1083C>T n.3995+1083C>T | dbSNP |
| 3 | g.132680831G= | CA1402644410 | NPHP3,NPHP3-ACAD11 | c.*1079C= (n.*1079C=) c.*1980+1083C= (n.*1980+1083C=) n.4271C= c.636+1083C= n.3995+1083C= | |
| 3 | g.132680832A= | CA1402644412 | NPHP3,NPHP3-ACAD11 | c.*1078T= (n.*1078T=) c.*1980+1082T= (n.*1980+1082T=) n.4270T= c.636+1082T= n.3995+1082T= | |
| 3 | g.132680832A>C | CA10617277 | NPHP3,NPHP3-ACAD11 | c.*1078T>G (n.*1078T>G) c.*1980+1082T>G (n.*1980+1082T>G) n.4270T>G c.636+1082T>G n.3995+1082T>G | ClinVar dbSNP |
| 3 | g.132680833G>C | CA899012700 | NPHP3,NPHP3-ACAD11 | c.*1077C>G (n.*1077C>G) c.*1980+1081C>G (n.*1980+1081C>G) n.4269C>G c.636+1081C>G n.3995+1081C>G | dbSNP |
| 3 | g.132680833G= | CA1402644414 | NPHP3,NPHP3-ACAD11 | c.*1077C= (n.*1077C=) c.*1980+1081C= (n.*1980+1081C=) n.4269C= c.636+1081C= n.3995+1081C= | |
| 3 | g.132680833G>T | CA2667735690 | NPHP3,NPHP3-ACAD11 | c.*1077C>A (n.*1077C>A) c.*1980+1081C>A (n.*1980+1081C>A) n.4269C>A c.636+1081C>A n.3995+1081C>A | gnomAD v4 |
| 3 | g.132680834G>A | CA1053649582 | NPHP3,NPHP3-ACAD11 | c.*1076C>T (n.*1076C>T) c.*1980+1080C>T (n.*1980+1080C>T) n.4268C>T c.636+1080C>T n.3995+1080C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680834G= | CA1402644415 | NPHP3,NPHP3-ACAD11 | c.*1076C= (n.*1076C=) c.*1980+1080C= (n.*1980+1080C=) n.4268C= c.636+1080C= n.3995+1080C= | |
| 3 | g.132680835T>A | CA83579375 | NPHP3,NPHP3-ACAD11 | c.*1075A>T (n.*1075A>T) c.*1980+1079A>T (n.*1980+1079A>T) n.4267A>T c.636+1079A>T n.3995+1079A>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680835T= | CA1402644417 | NPHP3,NPHP3-ACAD11 | c.*1075A= (n.*1075A=) c.*1980+1079A= (n.*1980+1079A=) n.4267A= c.636+1079A= n.3995+1079A= | |
| 3 | g.132680837A= | CA1402644419 | NPHP3,NPHP3-ACAD11 | c.*1073T= (n.*1073T=) c.*1980+1077T= (n.*1980+1077T=) n.4265T= c.636+1077T= n.3995+1077T= | |
| 3 | g.132680837A>C | CA1402644420 | NPHP3,NPHP3-ACAD11 | c.*1073T>G (n.*1073T>G) c.*1980+1077T>G (n.*1980+1077T>G) n.4265T>G c.636+1077T>G n.3995+1077T>G | dbSNP |
| 3 | g.132680839T>C | CA1402644421 | NPHP3,NPHP3-ACAD11 | c.*1071A>G (n.*1071A>G) c.*1980+1075A>G (n.*1980+1075A>G) n.4263A>G c.636+1075A>G n.3995+1075A>G | dbSNP |
| 3 | g.132680839T= | CA1402644423 | NPHP3,NPHP3-ACAD11 | c.*1071A= (n.*1071A=) c.*1980+1075A= (n.*1980+1075A=) n.4263A= c.636+1075A= n.3995+1075A= | |
| 3 | g.132680840_132680844delinsGAAGA | CA1402644424 | NPHP3,NPHP3-ACAD11 | c.*1066_*1070delinsTCTTC (n.*1066_*1070delinsTCTTC) c.*1980+1070_*1980+1074delinsTCTTC (n.*1980+1070_*1980+1074delinsTCTTC) n.4258_4262delinsTCTTC c.636+1070_636+1074delinsTCTTC n.3995+1070_3995+1074delinsTCTTC | |
| 3 | g.132680841_132680844del | CA899012708 | NPHP3,NPHP3-ACAD11 | c.*1066_*1069del (n.*1066_*1069del) c.*1980+1070_*1980+1073del (n.*1980+1070_*1980+1073del) n.4258_4261del c.636+1070_636+1073del n.3995+1070_3995+1073del | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680843G>A | CA546265323 | NPHP3,NPHP3-ACAD11 | c.*1067C>T (n.*1067C>T) c.*1980+1071C>T (n.*1980+1071C>T) n.4259C>T c.636+1071C>T n.3995+1071C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.132680843G= | CA1402644426 | NPHP3,NPHP3-ACAD11 | c.*1067C= (n.*1067C=) c.*1980+1071C= (n.*1980+1071C=) n.4259C= c.636+1071C= n.3995+1071C= | |
| 3 | g.132680847_132680850dup | CA546265324 | NPHP3,NPHP3-ACAD11 | c.*1063_*1066dup (n.*1063_*1066dup) c.*1980+1067_*1980+1070dup (n.*1980+1067_*1980+1070dup) n.4255_4258dup c.636+1067_636+1070dup n.3995+1067_3995+1070dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.132680845G>T | CA2667735691 | NPHP3,NPHP3-ACAD11 | c.*1065C>A (n.*1065C>A) c.*1980+1069C>A (n.*1980+1069C>A) n.4257C>A c.636+1069C>A n.3995+1069C>A | gnomAD v4 |
| 3 | g.132680849G= | CA1402644428 | NPHP3,NPHP3-ACAD11 | c.*1061C= (n.*1061C=) c.*1980+1065C= (n.*1980+1065C=) n.4253C= c.636+1065C= n.3995+1065C= | |
| 3 | g.132680849G>T | CA83579376 | NPHP3,NPHP3-ACAD11 | c.*1061C>A (n.*1061C>A) c.*1980+1065C>A (n.*1980+1065C>A) n.4253C>A c.636+1065C>A n.3995+1065C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.132680851T>C | CA546265325 | NPHP3,NPHP3-ACAD11 | c.*1059A>G (n.*1059A>G) c.*1980+1063A>G (n.*1980+1063A>G) n.4251A>G c.636+1063A>G n.3995+1063A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.132680851T= | CA1402644429 | NPHP3,NPHP3-ACAD11 | c.*1059A= (n.*1059A=) c.*1980+1063A= (n.*1980+1063A=) n.4251A= c.636+1063A= n.3995+1063A= |