| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.56029505_56029506insCAAAAAAAAAAAAAAAAAAAAAAA | CA2775528347 | PSPH | c.-20+2436_-20+2437insTTTTTTTTTTGTTTTTTTTTTTTT (n.-20+2436_-20+2437insTTTTTTTTTTGTTTTTTTTTTTTT) c.-19-8262_-19-8261insTTTTTTTTTTGTTTTTTTTTTTTT (n.-19-8262_-19-8261insTTTTTTTTTTGTTTTTTTTTTTTT) n.211+4468_211+4469insTTTTTTTTTTGTTTTTTTTTTTTT n.778+2436_778+2437insTTTTTTTTTTGTTTTTTTTTTTTT c.-20+1281_-20+1282insTTTTTTTTTTGTTTTTTTTTTTTT (n.-20+1281_-20+1282insTTTTTTTTTTGTTTTTTTTTTTTT) | |
| 7 | g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAA | CA2740844496 | PSPH | c.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTT (n.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTT) c.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTT (n.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTT) n.211+4468_211+4469insTTTTTTTTTTTTTTTTTTTTTT n.778+2436_778+2437insTTTTTTTTTTTTTTTTTTTTTT c.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTT (n.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTT) | |
| 7 | g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAA | CA1101605555 | PSPH | c.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTT (n.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTT) c.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTT (n.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTT) n.211+4468_211+4469insTTTTTTTTTTTTTTTTTTTTTTT n.778+2436_778+2437insTTTTTTTTTTTTTTTTTTTTTTT c.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTT (n.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAA | CA1101605437 | PSPH | c.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTT) c.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTT (n.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTT) n.211+4468_211+4469insTTTTTTTTTTTTTTTTTTTTTTTT n.778+2436_778+2437insTTTTTTTTTTTTTTTTTTTTTTTT c.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAAA | CA1101605457 | PSPH | c.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTTT) c.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTTT (n.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTTT) n.211+4468_211+4469insTTTTTTTTTTTTTTTTTTTTTTTTT n.778+2436_778+2437insTTTTTTTTTTTTTTTTTTTTTTTTT c.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1101605456 | PSPH | c.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTTTT) n.211+4468_211+4469insTTTTTTTTTTTTTTTTTTTTTTTTTT n.778+2436_778+2437insTTTTTTTTTTTTTTTTTTTTTTTTTT c.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1101605459 | PSPH | c.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.211+4468_211+4469insTTTTTTTTTTTTTTTTTTTTTTTTTTT n.778+2436_778+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTT c.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1101605454 | PSPH | c.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.211+4468_211+4469insTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.778+2436_778+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1101605451 | PSPH | c.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.211+4468_211+4469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.778+2436_778+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1101605445 | PSPH | c.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.211+4468_211+4469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.778+2436_778+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1101605438 | PSPH | c.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.211+4468_211+4469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.778+2436_778+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.56029513_56029514insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1101605464 | PSPH | c.-20+2436_-20+2437insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT (n.-20+2436_-20+2437insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT) c.-19-8262_-19-8261insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT (n.-19-8262_-19-8261insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT) n.211+4468_211+4469insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT n.778+2436_778+2437insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT c.-20+1281_-20+1282insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT (n.-20+1281_-20+1282insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2598106866 | PSPH | c.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.211+4468_211+4469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.778+2436_778+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.56029513_56029514insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1101605463 | PSPH | c.-20+2436_-20+2437insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.-20+2436_-20+2437insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) c.-19-8262_-19-8261insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.-19-8262_-19-8261insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) n.211+4468_211+4469insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT n.778+2436_778+2437insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT c.-20+1281_-20+1282insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.-20+1281_-20+1282insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1101605436 | PSPH | c.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+2436_-20+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-19-8262_-19-8261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.211+4468_211+4469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.778+2436_778+2437insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-20+1281_-20+1282insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.56029513dup | CA159022512 | PSPH | c.-20+2436dup (n.-20+2436dup) c.-19-8262dup (n.-19-8262dup) n.211+4468dup n.778+2436dup c.-20+1281dup (n.-20+1281dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.56029512_56029513dup | CA574353758 | PSPH | c.-20+2435_-20+2436dup (n.-20+2435_-20+2436dup) c.-19-8263_-19-8262dup (n.-19-8263_-19-8262dup) n.211+4467_211+4468dup n.778+2435_778+2436dup c.-20+1280_-20+1281dup (n.-20+1280_-20+1281dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.56029511_56029513dup | CA574353755 | PSPH | c.-20+2434_-20+2436dup (n.-20+2434_-20+2436dup) c.-19-8264_-19-8262dup (n.-19-8264_-19-8262dup) n.211+4466_211+4468dup n.778+2434_778+2436dup c.-20+1279_-20+1281dup (n.-20+1279_-20+1281dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.56029510_56029513dup | CA574353754 | PSPH | c.-20+2433_-20+2436dup (n.-20+2433_-20+2436dup) c.-19-8265_-19-8262dup (n.-19-8265_-19-8262dup) n.211+4465_211+4468dup n.778+2433_778+2436dup c.-20+1278_-20+1281dup (n.-20+1278_-20+1281dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.56029509_56029513dup | CA1101605481 | PSPH | c.-20+2432_-20+2436dup (n.-20+2432_-20+2436dup) c.-19-8266_-19-8262dup (n.-19-8266_-19-8262dup) n.211+4464_211+4468dup n.778+2432_778+2436dup c.-20+1277_-20+1281dup (n.-20+1277_-20+1281dup) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029508_56029513dup | CA1101605490 | PSPH | c.-20+2431_-20+2436dup (n.-20+2431_-20+2436dup) c.-19-8267_-19-8262dup (n.-19-8267_-19-8262dup) n.211+4463_211+4468dup n.778+2431_778+2436dup c.-20+1276_-20+1281dup (n.-20+1276_-20+1281dup) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029507_56029513dup | CA1101605492 | PSPH | c.-20+2430_-20+2436dup (n.-20+2430_-20+2436dup) c.-19-8268_-19-8262dup (n.-19-8268_-19-8262dup) n.211+4462_211+4468dup n.778+2430_778+2436dup c.-20+1275_-20+1281dup (n.-20+1275_-20+1281dup) | gnomAD v3 gnomAD v4 |
| 7 | g.56029506_56029513dup | CA1101605507 | PSPH | c.-20+2429_-20+2436dup (n.-20+2429_-20+2436dup) c.-19-8269_-19-8262dup (n.-19-8269_-19-8262dup) n.211+4461_211+4468dup n.778+2429_778+2436dup c.-20+1274_-20+1281dup (n.-20+1274_-20+1281dup) | gnomAD v3 gnomAD v4 |
| 7 | g.56029505_56029513dup | CA1101605521 | PSPH | c.-20+2428_-20+2436dup (n.-20+2428_-20+2436dup) c.-19-8270_-19-8262dup (n.-19-8270_-19-8262dup) n.211+4460_211+4468dup n.778+2428_778+2436dup c.-20+1273_-20+1281dup (n.-20+1273_-20+1281dup) | gnomAD v3 gnomAD v4 |
| 7 | g.56029504_56029513dup | CA1101605566 | PSPH | c.-20+2427_-20+2436dup (n.-20+2427_-20+2436dup) c.-19-8271_-19-8262dup (n.-19-8271_-19-8262dup) n.211+4459_211+4468dup n.778+2427_778+2436dup c.-20+1272_-20+1281dup (n.-20+1272_-20+1281dup) | gnomAD v3 gnomAD v4 |
| 7 | g.56029503_56029513dup | CA1101605537 | PSPH | c.-20+2426_-20+2436dup (n.-20+2426_-20+2436dup) c.-19-8272_-19-8262dup (n.-19-8272_-19-8262dup) n.211+4458_211+4468dup n.778+2426_778+2436dup c.-20+1271_-20+1281dup (n.-20+1271_-20+1281dup) | gnomAD v3 gnomAD v4 |
| 7 | g.56029502_56029513dup | CA1101605541 | PSPH | c.-20+2425_-20+2436dup (n.-20+2425_-20+2436dup) c.-19-8273_-19-8262dup (n.-19-8273_-19-8262dup) n.211+4457_211+4468dup n.778+2425_778+2436dup c.-20+1270_-20+1281dup (n.-20+1270_-20+1281dup) | |
| 7 | g.56029500_56029513dup | CA1101605548 | PSPH | c.-20+2423_-20+2436dup (n.-20+2423_-20+2436dup) c.-19-8275_-19-8262dup (n.-19-8275_-19-8262dup) n.211+4455_211+4468dup n.778+2423_778+2436dup c.-20+1268_-20+1281dup (n.-20+1268_-20+1281dup) | gnomAD v3 gnomAD v4 |
| 7 | g.56029499_56029513dup | CA1101605549 | PSPH | c.-20+2422_-20+2436dup (n.-20+2422_-20+2436dup) c.-19-8276_-19-8262dup (n.-19-8276_-19-8262dup) n.211+4454_211+4468dup n.778+2422_778+2436dup c.-20+1267_-20+1281dup (n.-20+1267_-20+1281dup) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029498_56029513dup | CA1101605550 | PSPH | c.-20+2421_-20+2436dup (n.-20+2421_-20+2436dup) c.-19-8277_-19-8262dup (n.-19-8277_-19-8262dup) n.211+4453_211+4468dup n.778+2421_778+2436dup c.-20+1266_-20+1281dup (n.-20+1266_-20+1281dup) | gnomAD v3 gnomAD v4 |
| 7 | g.56029497_56029513dup | CA1101605552 | PSPH | c.-20+2420_-20+2436dup (n.-20+2420_-20+2436dup) c.-19-8278_-19-8262dup (n.-19-8278_-19-8262dup) n.211+4452_211+4468dup n.778+2420_778+2436dup c.-20+1265_-20+1281dup (n.-20+1265_-20+1281dup) | gnomAD v3 gnomAD v4 |
| 7 | g.56029496_56029513dup | CA1101605553 | PSPH | c.-20+2419_-20+2436dup (n.-20+2419_-20+2436dup) c.-19-8279_-19-8262dup (n.-19-8279_-19-8262dup) n.211+4451_211+4468dup n.778+2419_778+2436dup c.-20+1264_-20+1281dup (n.-20+1264_-20+1281dup) | gnomAD v3 gnomAD v4 |
| 7 | g.56029493_56029513dup | CA1101605479 | PSPH | c.-20+2416_-20+2436dup (n.-20+2416_-20+2436dup) c.-19-8282_-19-8262dup (n.-19-8282_-19-8262dup) n.211+4448_211+4468dup n.778+2416_778+2436dup c.-20+1261_-20+1281dup (n.-20+1261_-20+1281dup) | gnomAD v3 gnomAD v4 |
| 7 | g.56029513del | CA574353757 | PSPH | c.-20+2436del (n.-20+2436del) c.-19-8262del (n.-19-8262del) n.211+4468del n.778+2436del c.-20+1281del (n.-20+1281del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.56029512_56029513del | CA839899423 | PSPH | c.-20+2435_-20+2436del (n.-20+2435_-20+2436del) c.-19-8263_-19-8262del (n.-19-8263_-19-8262del) n.211+4467_211+4468del n.778+2435_778+2436del c.-20+1280_-20+1281del (n.-20+1280_-20+1281del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029511_56029513del | CA839899404 | PSPH | c.-20+2434_-20+2436del (n.-20+2434_-20+2436del) c.-19-8264_-19-8262del (n.-19-8264_-19-8262del) n.211+4466_211+4468del n.778+2434_778+2436del c.-20+1279_-20+1281del (n.-20+1279_-20+1281del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029510_56029513del | CA1101605470 | PSPH | c.-20+2433_-20+2436del (n.-20+2433_-20+2436del) c.-19-8265_-19-8262del (n.-19-8265_-19-8262del) n.211+4465_211+4468del n.778+2433_778+2436del c.-20+1278_-20+1281del (n.-20+1278_-20+1281del) | gnomAD v3 gnomAD v4 |
| 7 | g.56029509_56029513del | CA1101605474 | PSPH | c.-20+2432_-20+2436del (n.-20+2432_-20+2436del) c.-19-8266_-19-8262del (n.-19-8266_-19-8262del) n.211+4464_211+4468del n.778+2432_778+2436del c.-20+1277_-20+1281del (n.-20+1277_-20+1281del) | gnomAD v3 gnomAD v4 |
| 7 | g.56029508_56029513del | CA2775528346 | PSPH | c.-20+2431_-20+2436del (n.-20+2431_-20+2436del) c.-19-8267_-19-8262del (n.-19-8267_-19-8262del) n.211+4463_211+4468del n.778+2431_778+2436del c.-20+1276_-20+1281del (n.-20+1276_-20+1281del) | |
| 7 | g.56029507_56029513del | CA1709308707 | PSPH | c.-20+2430_-20+2436del (n.-20+2430_-20+2436del) c.-19-8268_-19-8262del (n.-19-8268_-19-8262del) n.211+4462_211+4468del n.778+2430_778+2436del c.-20+1275_-20+1281del (n.-20+1275_-20+1281del) | dbSNP |
| 7 | g.56029503_56029513del | CA2775528345 | PSPH | c.-20+2426_-20+2436del (n.-20+2426_-20+2436del) c.-19-8272_-19-8262del (n.-19-8272_-19-8262del) n.211+4458_211+4468del n.778+2426_778+2436del c.-20+1271_-20+1281del (n.-20+1271_-20+1281del) | |
| 7 | g.56029514_56029515insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG | CA2775528348 | PSPH | c.-20+2436_-20+2437insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT (n.-20+2436_-20+2437insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT) c.-19-8262_-19-8261insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT (n.-19-8262_-19-8261insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT) n.211+4468_211+4469insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT n.778+2436_778+2437insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT c.-20+1281_-20+1282insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT (n.-20+1281_-20+1282insTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT) | |
| 7 | g.56029503A= | CA1709308719 | PSPH | c.-20+2426T= (n.-20+2426T=) c.-19-8272T= (n.-19-8272T=) n.211+4458T= n.778+2426T= c.-20+1271T= (n.-20+1271T=) | |
| 7 | g.56029503A>G | CA1101605590 | PSPH | c.-20+2426T>C (n.-20+2426T>C) c.-19-8272T>C (n.-19-8272T>C) n.211+4458T>C n.778+2426T>C c.-20+1271T>C (n.-20+1271T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029507A= | CA1709308720 | PSPH | c.-20+2422T= (n.-20+2422T=) c.-19-8276T= (n.-19-8276T=) n.211+4454T= n.778+2422T= c.-20+1267T= (n.-20+1267T=) | |
| 7 | g.56029507A>G | CA1709308721 | PSPH | c.-20+2422T>C (n.-20+2422T>C) c.-19-8276T>C (n.-19-8276T>C) n.211+4454T>C n.778+2422T>C c.-20+1267T>C (n.-20+1267T>C) | dbSNP |
| 7 | g.56029508A>T | CA2598106872 | PSPH | c.-20+2421T>A (n.-20+2421T>A) c.-19-8277T>A (n.-19-8277T>A) n.211+4453T>A n.778+2421T>A c.-20+1266T>A (n.-20+1266T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029509A>C | CA2598106873 | PSPH | c.-20+2420T>G (n.-20+2420T>G) c.-19-8278T>G (n.-19-8278T>G) n.211+4452T>G n.778+2420T>G c.-20+1265T>G (n.-20+1265T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029512A= | CA1709308722 | PSPH | c.-20+2417T= (n.-20+2417T=) c.-19-8281T= (n.-19-8281T=) n.211+4449T= n.778+2417T= c.-20+1262T= (n.-20+1262T=) | |
| 7 | g.56029512A>C | CA2775528349 | PSPH | c.-20+2417T>G (n.-20+2417T>G) c.-19-8281T>G (n.-19-8281T>G) n.211+4449T>G n.778+2417T>G c.-20+1262T>G (n.-20+1262T>G) | |
| 7 | g.56029512A>G | CA159022526 | PSPH | c.-20+2417T>C (n.-20+2417T>C) c.-19-8281T>C (n.-19-8281T>C) n.211+4449T>C n.778+2417T>C c.-20+1262T>C (n.-20+1262T>C) | dbSNP |
| 7 | g.56029513A>C | CA2598106874 | PSPH | c.-20+2416T>G (n.-20+2416T>G) c.-19-8282T>G (n.-19-8282T>G) n.211+4448T>G n.778+2416T>G c.-20+1261T>G (n.-20+1261T>G) | gnomAD v3 gnomAD v4 |
| 7 | g.56029513_56029514del | CA2569963961 | PSPH | c.-20+2415_-20+2416del (n.-20+2415_-20+2416del) c.-19-8283_-19-8282del (n.-19-8283_-19-8282del) n.211+4447_211+4448del n.778+2415_778+2416del c.-20+1260_-20+1261del (n.-20+1260_-20+1261del) | |
| 7 | g.56029513_56029516delinsAGCC | CA1709308724 | PSPH | c.-20+2413_-20+2416delinsGGCT (n.-20+2413_-20+2416delinsGGCT) c.-19-8285_-19-8282delinsGGCT (n.-19-8285_-19-8282delinsGGCT) n.211+4445_211+4448delinsGGCT n.778+2413_778+2416delinsGGCT c.-20+1258_-20+1261delinsGGCT (n.-20+1258_-20+1261delinsGGCT) | |
| 7 | g.56029513_56029514insC | CA2775528350 | PSPH | c.-20+2415_-20+2416insG (n.-20+2415_-20+2416insG) c.-19-8283_-19-8282insG (n.-19-8283_-19-8282insG) n.211+4447_211+4448insG n.778+2415_778+2416insG c.-20+1260_-20+1261insG (n.-20+1260_-20+1261insG) | |
| 7 | g.56029514G>A | CA574353761 | PSPH | c.-20+2415C>T (n.-20+2415C>T) c.-19-8283C>T (n.-19-8283C>T) n.211+4447C>T n.778+2415C>T c.-20+1260C>T (n.-20+1260C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.56029514G>C | CA2775528351 | PSPH | c.-20+2415C>G (n.-20+2415C>G) c.-19-8283C>G (n.-19-8283C>G) n.211+4447C>G n.778+2415C>G c.-20+1260C>G (n.-20+1260C>G) | |
| 7 | g.56029514G= | CA1709308725 | PSPH | c.-20+2415C= (n.-20+2415C=) c.-19-8283C= (n.-19-8283C=) n.211+4447C= n.778+2415C= c.-20+1260C= (n.-20+1260C=) | |
| 7 | g.56029514_56029515del | CA1101605593 | PSPH | c.-20+2414_-20+2415del (n.-20+2414_-20+2415del) c.-19-8284_-19-8283del (n.-19-8284_-19-8283del) n.211+4446_211+4447del n.778+2414_778+2415del c.-20+1259_-20+1260del (n.-20+1259_-20+1260del) | gnomAD v3 gnomAD v4 |
| 7 | g.56029514_56029516del | CA574353760 | PSPH | c.-20+2413_-20+2415del (n.-20+2413_-20+2415del) c.-19-8285_-19-8283del (n.-19-8285_-19-8283del) n.211+4445_211+4447del n.778+2413_778+2415del c.-20+1258_-20+1260del (n.-20+1258_-20+1260del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.56029514_56029523del | CA2714934361 | PSPH | c.-20+2406_-20+2415del (n.-20+2406_-20+2415del) c.-19-8292_-19-8283del (n.-19-8292_-19-8283del) n.211+4438_211+4447del n.778+2406_778+2415del c.-20+1251_-20+1260del (n.-20+1251_-20+1260del) | dbSNP |
| 7 | g.56029515C>A | CA574353762 | PSPH | c.-20+2414G>T (n.-20+2414G>T) c.-19-8284G>T (n.-19-8284G>T) n.211+4446G>T n.778+2414G>T c.-20+1259G>T (n.-20+1259G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.56029515C= | CA1709308727 | PSPH | c.-20+2414G= (n.-20+2414G=) c.-19-8284G= (n.-19-8284G=) n.211+4446G= n.778+2414G= c.-20+1259G= (n.-20+1259G=) | |
| 7 | g.56029515_56029516insAAA | CA1101605600 | PSPH | c.-20+2413_-20+2414insTTT (n.-20+2413_-20+2414insTTT) c.-19-8285_-19-8284insTTT (n.-19-8285_-19-8284insTTT) n.211+4445_211+4446insTTT n.778+2413_778+2414insTTT c.-20+1258_-20+1259insTTT (n.-20+1258_-20+1259insTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.56029516C>A | CA574353763 | PSPH | c.-20+2413G>T (n.-20+2413G>T) c.-19-8285G>T (n.-19-8285G>T) n.211+4445G>T n.778+2413G>T c.-20+1258G>T (n.-20+1258G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.56029516C= | CA1709308728 | PSPH | c.-20+2413G= (n.-20+2413G=) c.-19-8285G= (n.-19-8285G=) n.211+4445G= n.778+2413G= c.-20+1258G= (n.-20+1258G=) | |
| 7 | g.56029517A= | CA1709308730 | PSPH | c.-20+2412T= (n.-20+2412T=) c.-19-8286T= (n.-19-8286T=) n.211+4444T= n.778+2412T= c.-20+1257T= (n.-20+1257T=) | |
| 7 | g.56029517A>C | CA1101605605 | PSPH | c.-20+2412T>G (n.-20+2412T>G) c.-19-8286T>G (n.-19-8286T>G) n.211+4444T>G n.778+2412T>G c.-20+1257T>G (n.-20+1257T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029517A>G | CA2714577455 | PSPH | c.-20+2412T>C (n.-20+2412T>C) c.-19-8286T>C (n.-19-8286T>C) n.211+4444T>C n.778+2412T>C c.-20+1257T>C (n.-20+1257T>C) | dbSNP |
| 7 | g.56029517_56029518insAAAA | CA574353764 | PSPH | c.-20+2412_-20+2413insTTTT (n.-20+2412_-20+2413insTTTT) c.-19-8286_-19-8285insTTTT (n.-19-8286_-19-8285insTTTT) n.211+4444_211+4445insTTTT n.778+2412_778+2413insTTTT c.-20+1257_-20+1258insTTTT (n.-20+1257_-20+1258insTTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.56029517_56029518insAAAAAA | CA1101605603 | PSPH | c.-20+2412_-20+2413insTTTTTT (n.-20+2412_-20+2413insTTTTTT) c.-19-8286_-19-8285insTTTTTT (n.-19-8286_-19-8285insTTTTTT) n.211+4444_211+4445insTTTTTT n.778+2412_778+2413insTTTTTT c.-20+1257_-20+1258insTTTTTT (n.-20+1257_-20+1258insTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029517_56029518insAAAAAAA | CA1101605604 | PSPH | c.-20+2412_-20+2413insTTTTTTT (n.-20+2412_-20+2413insTTTTTTT) c.-19-8286_-19-8285insTTTTTTT (n.-19-8286_-19-8285insTTTTTTT) n.211+4444_211+4445insTTTTTTT n.778+2412_778+2413insTTTTTTT c.-20+1257_-20+1258insTTTTTTT (n.-20+1257_-20+1258insTTTTTTT) | gnomAD v3 gnomAD v4 |
| 7 | g.56029518C>A | CA1101605607 | PSPH | c.-20+2411G>T (n.-20+2411G>T) c.-19-8287G>T (n.-19-8287G>T) n.211+4443G>T n.778+2411G>T c.-20+1256G>T (n.-20+1256G>T) | gnomAD v3 gnomAD v4 |
| 7 | g.56029519T>A | CA1101605608 | PSPH | c.-20+2410A>T (n.-20+2410A>T) c.-19-8288A>T (n.-19-8288A>T) n.211+4442A>T n.778+2410A>T c.-20+1255A>T (n.-20+1255A>T) | gnomAD v3 gnomAD v4 |
| 7 | g.56029519T>G | CA1709308733 | PSPH | c.-20+2410A>C (n.-20+2410A>C) c.-19-8288A>C (n.-19-8288A>C) n.211+4442A>C n.778+2410A>C c.-20+1255A>C (n.-20+1255A>C) | dbSNP |
| 7 | g.56029519T= | CA1709308732 | PSPH | c.-20+2410A= (n.-20+2410A=) c.-19-8288A= (n.-19-8288A=) n.211+4442A= n.778+2410A= c.-20+1255A= (n.-20+1255A=) | |
| 7 | g.56029520G>A | CA1709308735 | PSPH | c.-20+2409C>T (n.-20+2409C>T) c.-19-8289C>T (n.-19-8289C>T) n.211+4441C>T n.778+2409C>T c.-20+1254C>T (n.-20+1254C>T) | dbSNP |
| 7 | g.56029520G= | CA1709308734 | PSPH | c.-20+2409C= (n.-20+2409C=) c.-19-8289C= (n.-19-8289C=) n.211+4441C= n.778+2409C= c.-20+1254C= (n.-20+1254C=) | |
| 7 | g.56029522T>C | CA1709308737 | PSPH | c.-20+2407A>G (n.-20+2407A>G) c.-19-8291A>G (n.-19-8291A>G) n.211+4439A>G n.778+2407A>G c.-20+1252A>G (n.-20+1252A>G) | dbSNP |
| 7 | g.56029522T= | CA1709308738 | PSPH | c.-20+2407A= (n.-20+2407A=) c.-19-8291A= (n.-19-8291A=) n.211+4439A= n.778+2407A= c.-20+1252A= (n.-20+1252A=) | |
| 7 | g.56029523G>A | CA1101605613 | PSPH | c.-20+2406C>T (n.-20+2406C>T) c.-19-8292C>T (n.-19-8292C>T) n.211+4438C>T n.778+2406C>T c.-20+1251C>T (n.-20+1251C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029523G>T | CA2775528352 | PSPH | c.-20+2406C>A (n.-20+2406C>A) c.-19-8292C>A (n.-19-8292C>A) n.211+4438C>A n.778+2406C>A c.-20+1251C>A (n.-20+1251C>A) | |
| 7 | g.56029524A= | CA1709308739 | PSPH | c.-20+2405T= (n.-20+2405T=) c.-19-8293T= (n.-19-8293T=) n.211+4437T= n.778+2405T= c.-20+1250T= (n.-20+1250T=) | |
| 7 | g.56029524A>T | CA839899471 | PSPH | c.-20+2405T>A (n.-20+2405T>A) c.-19-8293T>A (n.-19-8293T>A) n.211+4437T>A n.778+2405T>A c.-20+1250T>A (n.-20+1250T>A) | dbSNP |
| 7 | g.56029525C>A | CA2714934554 | PSPH | c.-20+2404G>T (n.-20+2404G>T) c.-19-8294G>T (n.-19-8294G>T) n.211+4436G>T n.778+2404G>T c.-20+1249G>T (n.-20+1249G>T) | dbSNP |
| 7 | g.56029526A>C | CA2775528353 | PSPH | c.-20+2403T>G (n.-20+2403T>G) c.-19-8295T>G (n.-19-8295T>G) n.211+4435T>G n.778+2403T>G c.-20+1248T>G (n.-20+1248T>G) | |
| 7 | g.56029529G>C | CA2714934555 | PSPH | c.-20+2400C>G (n.-20+2400C>G) c.-19-8298C>G (n.-19-8298C>G) n.211+4432C>G n.778+2400C>G c.-20+1245C>G (n.-20+1245C>G) | dbSNP |
| 7 | g.56029530C>A | CA159022530 | PSPH | c.-20+2399G>T (n.-20+2399G>T) c.-19-8299G>T (n.-19-8299G>T) n.211+4431G>T n.778+2399G>T c.-20+1244G>T (n.-20+1244G>T) | dbSNP |
| 7 | g.56029530C= | CA1709308741 | PSPH | c.-20+2399G= (n.-20+2399G=) c.-19-8299G= (n.-19-8299G=) n.211+4431G= n.778+2399G= c.-20+1244G= (n.-20+1244G=) | |
| 7 | g.56029532T>C | CA1709308743 | PSPH | c.-20+2397A>G (n.-20+2397A>G) c.-19-8301A>G (n.-19-8301A>G) n.211+4429A>G n.778+2397A>G c.-20+1242A>G (n.-20+1242A>G) | dbSNP |
| 7 | g.56029532T= | CA1709308742 | PSPH | c.-20+2397A= (n.-20+2397A=) c.-19-8301A= (n.-19-8301A=) n.211+4429A= n.778+2397A= c.-20+1242A= (n.-20+1242A=) | |
| 7 | g.56029534C>A | CA2775528354 | PSPH | c.-20+2395G>T (n.-20+2395G>T) c.-19-8303G>T (n.-19-8303G>T) n.211+4427G>T n.778+2395G>T c.-20+1240G>T (n.-20+1240G>T) | |
| 7 | g.56029535T>A | CA2598106876 | PSPH | c.-20+2394A>T (n.-20+2394A>T) c.-19-8304A>T (n.-19-8304A>T) n.211+4426A>T n.778+2394A>T c.-20+1239A>T (n.-20+1239A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029535T>C | CA2714934556 | PSPH | c.-20+2394A>G (n.-20+2394A>G) c.-19-8304A>G (n.-19-8304A>G) n.211+4426A>G n.778+2394A>G c.-20+1239A>G (n.-20+1239A>G) | dbSNP |
| 7 | g.56029536C>A | CA2775528355 | PSPH | c.-20+2393G>T (n.-20+2393G>T) c.-19-8305G>T (n.-19-8305G>T) n.211+4425G>T n.778+2393G>T c.-20+1238G>T (n.-20+1238G>T) | |
| 7 | g.56029537A= | CA1709308744 | PSPH | c.-20+2392T= (n.-20+2392T=) c.-19-8306T= (n.-19-8306T=) n.211+4424T= n.778+2392T= c.-20+1237T= (n.-20+1237T=) | |
| 7 | g.56029537A>C | CA2714624485 | PSPH | c.-20+2392T>G (n.-20+2392T>G) c.-19-8306T>G (n.-19-8306T>G) n.211+4424T>G n.778+2392T>G c.-20+1237T>G (n.-20+1237T>G) | dbSNP |
| 7 | g.56029537A>G | CA1101605619 | PSPH | c.-20+2392T>C (n.-20+2392T>C) c.-19-8306T>C (n.-19-8306T>C) n.211+4424T>C n.778+2392T>C c.-20+1237T>C (n.-20+1237T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029538T>A | CA2598106877 | PSPH | c.-20+2391A>T (n.-20+2391A>T) c.-19-8307A>T (n.-19-8307A>T) n.211+4423A>T n.778+2391A>T c.-20+1236A>T (n.-20+1236A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029538T>G | CA2775528356 | PSPH | c.-20+2391A>C (n.-20+2391A>C) c.-19-8307A>C (n.-19-8307A>C) n.211+4423A>C n.778+2391A>C c.-20+1236A>C (n.-20+1236A>C) | |
| 7 | g.56029540C= | CA1709308745 | PSPH | c.-20+2389G= (n.-20+2389G=) c.-19-8309G= (n.-19-8309G=) n.211+4421G= n.778+2389G= c.-20+1234G= (n.-20+1234G=) | |
| 7 | g.56029540C>T | CA159022535 | PSPH | c.-20+2389G>A (n.-20+2389G>A) c.-19-8309G>A (n.-19-8309G>A) n.211+4421G>A n.778+2389G>A c.-20+1234G>A (n.-20+1234G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029541C= | CA1709308747 | PSPH | c.-20+2388G= (n.-20+2388G=) c.-19-8310G= (n.-19-8310G=) n.211+4420G= n.778+2388G= c.-20+1233G= (n.-20+1233G=) | |
| 7 | g.56029541C>T | CA839899475 | PSPH | c.-20+2388G>A (n.-20+2388G>A) c.-19-8310G>A (n.-19-8310G>A) n.211+4420G>A n.778+2388G>A c.-20+1233G>A (n.-20+1233G>A) | dbSNP |
| 7 | g.56029542T>A | CA2775528357 | PSPH | c.-20+2387A>T (n.-20+2387A>T) c.-19-8311A>T (n.-19-8311A>T) n.211+4419A>T n.778+2387A>T c.-20+1232A>T (n.-20+1232A>T) | |
| 7 | g.56029542T>C | CA2714934842 | PSPH | c.-20+2387A>G (n.-20+2387A>G) c.-19-8311A>G (n.-19-8311A>G) n.211+4419A>G n.778+2387A>G c.-20+1232A>G (n.-20+1232A>G) | dbSNP |
| 7 | g.56029544G>C | CA159022539 | PSPH | c.-20+2385C>G (n.-20+2385C>G) c.-19-8313C>G (n.-19-8313C>G) n.211+4417C>G n.778+2385C>G c.-20+1230C>G (n.-20+1230C>G) | dbSNP |
| 7 | g.56029544G= | CA1709308748 | PSPH | c.-20+2385C= (n.-20+2385C=) c.-19-8313C= (n.-19-8313C=) n.211+4417C= n.778+2385C= c.-20+1230C= (n.-20+1230C=) | |
| 7 | g.56029546T>A | CA1709308749 | PSPH | c.-20+2383A>T (n.-20+2383A>T) c.-19-8315A>T (n.-19-8315A>T) n.211+4415A>T n.778+2383A>T c.-20+1228A>T (n.-20+1228A>T) | dbSNP |
| 7 | g.56029546T= | CA1709308750 | PSPH | c.-20+2383A= (n.-20+2383A=) c.-19-8315A= (n.-19-8315A=) n.211+4415A= n.778+2383A= c.-20+1228A= (n.-20+1228A=) | |
| 7 | g.56029549A>C | CA2714934861 | PSPH | c.-20+2380T>G (n.-20+2380T>G) c.-19-8318T>G (n.-19-8318T>G) n.211+4412T>G n.778+2380T>G c.-20+1225T>G (n.-20+1225T>G) | dbSNP |
| 7 | g.56029550A= | CA1709308751 | PSPH | c.-20+2379T= (n.-20+2379T=) c.-19-8319T= (n.-19-8319T=) n.211+4411T= n.778+2379T= c.-20+1224T= (n.-20+1224T=) | |
| 7 | g.56029550A>G | CA1101605621 | PSPH | c.-20+2379T>C (n.-20+2379T>C) c.-19-8319T>C (n.-19-8319T>C) n.211+4411T>C n.778+2379T>C c.-20+1224T>C (n.-20+1224T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029551A= | CA1709308753 | PSPH | c.-20+2378T= (n.-20+2378T=) c.-19-8320T= (n.-19-8320T=) n.211+4410T= n.778+2378T= c.-20+1223T= (n.-20+1223T=) | |
| 7 | g.56029551A>G | CA1101605623 | PSPH | c.-20+2378T>C (n.-20+2378T>C) c.-19-8320T>C (n.-19-8320T>C) n.211+4410T>C n.778+2378T>C c.-20+1223T>C (n.-20+1223T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029552G>A | CA1101605628 | PSPH | c.-20+2377C>T (n.-20+2377C>T) c.-19-8321C>T (n.-19-8321C>T) n.211+4409C>T n.778+2377C>T c.-20+1222C>T (n.-20+1222C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029552G= | CA1709308754 | PSPH | c.-20+2377C= (n.-20+2377C=) c.-19-8321C= (n.-19-8321C=) n.211+4409C= n.778+2377C= c.-20+1222C= (n.-20+1222C=) | |
| 7 | g.56029555C>A | CA1101605634 | PSPH | c.-20+2374G>T (n.-20+2374G>T) c.-19-8324G>T (n.-19-8324G>T) n.211+4406G>T n.778+2374G>T c.-20+1219G>T (n.-20+1219G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029555C= | CA1709308755 | PSPH | c.-20+2374G= (n.-20+2374G=) c.-19-8324G= (n.-19-8324G=) n.211+4406G= n.778+2374G= c.-20+1219G= (n.-20+1219G=) | |
| 7 | g.56029555C>G | CA1709308756 | PSPH | c.-20+2374G>C (n.-20+2374G>C) c.-19-8324G>C (n.-19-8324G>C) n.211+4406G>C n.778+2374G>C c.-20+1219G>C (n.-20+1219G>C) | dbSNP |
| 7 | g.56029556A= | CA1709308757 | PSPH | c.-20+2373T= (n.-20+2373T=) c.-19-8325T= (n.-19-8325T=) n.211+4405T= n.778+2373T= c.-20+1218T= (n.-20+1218T=) | |
| 7 | g.56029556A>C | CA1709308759 | PSPH | c.-20+2373T>G (n.-20+2373T>G) c.-19-8325T>G (n.-19-8325T>G) n.211+4405T>G n.778+2373T>G c.-20+1218T>G (n.-20+1218T>G) | dbSNP |
| 7 | g.56029561C>A | CA1101605641 | PSPH | c.-20+2368G>T (n.-20+2368G>T) c.-19-8330G>T (n.-19-8330G>T) n.211+4400G>T n.778+2368G>T c.-20+1213G>T (n.-20+1213G>T) | gnomAD v3 gnomAD v4 |
| 7 | g.56029569C= | CA1709308760 | PSPH | c.-20+2360G= (n.-20+2360G=) c.-19-8338G= (n.-19-8338G=) n.211+4392G= n.778+2360G= c.-20+1205G= (n.-20+1205G=) | |
| 7 | g.56029569C>T | CA159022544 | PSPH | c.-20+2360G>A (n.-20+2360G>A) c.-19-8338G>A (n.-19-8338G>A) n.211+4392G>A n.778+2360G>A c.-20+1205G>A (n.-20+1205G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.56029572C>A | CA1709308763 | PSPH | c.-20+2357G>T (n.-20+2357G>T) c.-19-8341G>T (n.-19-8341G>T) n.211+4389G>T n.778+2357G>T c.-20+1202G>T (n.-20+1202G>T) | dbSNP |
| 7 | g.56029572C= | CA1709308762 | PSPH | c.-20+2357G= (n.-20+2357G=) c.-19-8341G= (n.-19-8341G=) n.211+4389G= n.778+2357G= c.-20+1202G= (n.-20+1202G=) | |
| 7 | g.56029572C>G | CA12633121 | PSPH | c.-20+2357G>C (n.-20+2357G>C) c.-19-8341G>C (n.-19-8341G>C) n.211+4389G>C n.778+2357G>C c.-20+1202G>C (n.-20+1202G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.56029572C>T | CA839899480 | PSPH | c.-20+2357G>A (n.-20+2357G>A) c.-19-8341G>A (n.-19-8341G>A) n.211+4389G>A n.778+2357G>A c.-20+1202G>A (n.-20+1202G>A) | dbSNP |
| 7 | g.56029579C= | CA1709308765 | PSPH | c.-20+2350G= (n.-20+2350G=) c.-19-8348G= (n.-19-8348G=) n.211+4382G= n.778+2350G= c.-20+1195G= (n.-20+1195G=) | |
| 7 | g.56029579C>T | CA1709308766 | PSPH | c.-20+2350G>A (n.-20+2350G>A) c.-19-8348G>A (n.-19-8348G>A) n.211+4382G>A n.778+2350G>A c.-20+1195G>A (n.-20+1195G>A) | dbSNP |
| 7 | g.56029581G>C | CA839899482 | PSPH | c.-20+2348C>G (n.-20+2348C>G) c.-19-8350C>G (n.-19-8350C>G) n.211+4380C>G n.778+2348C>G c.-20+1193C>G (n.-20+1193C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029581G= | CA1709308767 | PSPH | c.-20+2348C= (n.-20+2348C=) c.-19-8350C= (n.-19-8350C=) n.211+4380C= n.778+2348C= c.-20+1193C= (n.-20+1193C=) | |
| 7 | g.56029582C>A | CA1101605646 | PSPH | c.-20+2347G>T (n.-20+2347G>T) c.-19-8351G>T (n.-19-8351G>T) n.211+4379G>T n.778+2347G>T c.-20+1192G>T (n.-20+1192G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029582C= | CA1709308769 | PSPH | c.-20+2347G= (n.-20+2347G=) c.-19-8351G= (n.-19-8351G=) n.211+4379G= n.778+2347G= c.-20+1192G= (n.-20+1192G=) | |
| 7 | g.56029582C>G | CA1709308770 | PSPH | c.-20+2347G>C (n.-20+2347G>C) c.-19-8351G>C (n.-19-8351G>C) n.211+4379G>C n.778+2347G>C c.-20+1192G>C (n.-20+1192G>C) | dbSNP |
| 7 | g.56029586C= | CA1709308771 | PSPH | c.-20+2343G= (n.-20+2343G=) c.-19-8355G= (n.-19-8355G=) n.211+4375G= n.778+2343G= c.-20+1188G= (n.-20+1188G=) | |
| 7 | g.56029586C>G | CA574353767 | PSPH | c.-20+2343G>C (n.-20+2343G>C) c.-19-8355G>C (n.-19-8355G>C) n.211+4375G>C n.778+2343G>C c.-20+1188G>C (n.-20+1188G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.56029586C>T | CA159022545 | PSPH | c.-20+2343G>A (n.-20+2343G>A) c.-19-8355G>A (n.-19-8355G>A) n.211+4375G>A n.778+2343G>A c.-20+1188G>A (n.-20+1188G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.56029587G>A | CA839899498 | PSPH | c.-20+2342C>T (n.-20+2342C>T) c.-19-8356C>T (n.-19-8356C>T) n.211+4374C>T n.778+2342C>T c.-20+1187C>T (n.-20+1187C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029587G= | CA1709308773 | PSPH | c.-20+2342C= (n.-20+2342C=) c.-19-8356C= (n.-19-8356C=) n.211+4374C= n.778+2342C= c.-20+1187C= (n.-20+1187C=) | |
| 7 | g.56029590G>C | CA2775528358 | PSPH | c.-20+2339C>G (n.-20+2339C>G) c.-19-8359C>G (n.-19-8359C>G) n.211+4371C>G n.778+2339C>G c.-20+1184C>G (n.-20+1184C>G) | |
| 7 | g.56029600T>C | CA159022546 | PSPH | c.-20+2329A>G (n.-20+2329A>G) c.-19-8369A>G (n.-19-8369A>G) n.211+4361A>G n.778+2329A>G c.-20+1174A>G (n.-20+1174A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029600T>G | CA159022549 | PSPH | c.-20+2329A>C (n.-20+2329A>C) c.-19-8369A>C (n.-19-8369A>C) n.211+4361A>C n.778+2329A>C c.-20+1174A>C (n.-20+1174A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.56029600T= | CA1709308774 | PSPH | c.-20+2329A= (n.-20+2329A=) c.-19-8369A= (n.-19-8369A=) n.211+4361A= n.778+2329A= c.-20+1174A= (n.-20+1174A=) | |
| 7 | g.56029603A= | CA1709308776 | PSPH | c.-20+2326T= (n.-20+2326T=) c.-19-8372T= (n.-19-8372T=) n.211+4358T= n.778+2326T= c.-20+1171T= (n.-20+1171T=) | |
| 7 | g.56029603A>G | CA159022555 | PSPH | c.-20+2326T>C (n.-20+2326T>C) c.-19-8372T>C (n.-19-8372T>C) n.211+4358T>C n.778+2326T>C c.-20+1171T>C (n.-20+1171T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |