Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.56029447T>CCA159022488PSPHc.-20+2482A>G (n.-20+2482A>G)
c.-19-8216A>G (n.-19-8216A>G)
n.211+4514A>G
n.778+2482A>G
c.-20+1327A>G (n.-20+1327A>G)
 dbSNP
7g.56029447T=CA1709308651PSPHc.-20+2482A= (n.-20+2482A=)
c.-19-8216A= (n.-19-8216A=)
n.211+4514A=
n.778+2482A=
c.-20+1327A= (n.-20+1327A=)
7g.56029448G=CA1709308653PSPHc.-20+2481C= (n.-20+2481C=)
c.-19-8217C= (n.-19-8217C=)
n.211+4513C=
n.778+2481C=
c.-20+1326C= (n.-20+1326C=)
7g.56029448G>TCA1709308654PSPHc.-20+2481C>A (n.-20+2481C>A)
c.-19-8217C>A (n.-19-8217C>A)
n.211+4513C>A
n.778+2481C>A
c.-20+1326C>A (n.-20+1326C>A)
 dbSNP
7g.56029451C>ACA839899343PSPHc.-20+2478G>T (n.-20+2478G>T)
c.-19-8220G>T (n.-19-8220G>T)
n.211+4510G>T
n.778+2478G>T
c.-20+1323G>T (n.-20+1323G>T)
 dbSNP gnomAD v3 gnomAD v4
7g.56029451C=CA1709308656PSPHc.-20+2478G= (n.-20+2478G=)
c.-19-8220G= (n.-19-8220G=)
n.211+4510G=
n.778+2478G=
c.-20+1323G= (n.-20+1323G=)
7g.56029452C=CA1709308657PSPHc.-20+2477G= (n.-20+2477G=)
c.-19-8221G= (n.-19-8221G=)
n.211+4509G=
n.778+2477G=
c.-20+1322G= (n.-20+1322G=)
7g.56029452C>GCA1101605313PSPHc.-20+2477G>C (n.-20+2477G>C)
c.-19-8221G>C (n.-19-8221G>C)
n.211+4509G>C
n.778+2477G>C
c.-20+1322G>C (n.-20+1322G>C)
 dbSNP gnomAD v3 gnomAD v4
7g.56029452C>TCA1709308658PSPHc.-20+2477G>A (n.-20+2477G>A)
c.-19-8221G>A (n.-19-8221G>A)
n.211+4509G>A
n.778+2477G>A
c.-20+1322G>A (n.-20+1322G>A)
 dbSNP
7g.56029453C>ACA839899347PSPHc.-20+2476G>T (n.-20+2476G>T)
c.-19-8222G>T (n.-19-8222G>T)
n.211+4508G>T
n.778+2476G>T
c.-20+1321G>T (n.-20+1321G>T)
 dbSNP gnomAD v3 gnomAD v4
7g.56029453C=CA1709308660PSPHc.-20+2476G= (n.-20+2476G=)
c.-19-8222G= (n.-19-8222G=)
n.211+4508G=
n.778+2476G=
c.-20+1321G= (n.-20+1321G=)
7g.56029456C>ACA1101605317PSPHc.-20+2473G>T (n.-20+2473G>T)
c.-19-8225G>T (n.-19-8225G>T)
n.211+4505G>T
n.778+2473G>T
c.-20+1318G>T (n.-20+1318G>T)
 gnomAD v3 gnomAD v4
7g.56029456C=CA1709308662PSPHc.-20+2473G= (n.-20+2473G=)
c.-19-8225G= (n.-19-8225G=)
n.211+4505G=
n.778+2473G=
c.-20+1318G= (n.-20+1318G=)
7g.56029456C>GCA1101605319PSPHc.-20+2473G>C (n.-20+2473G>C)
c.-19-8225G>C (n.-19-8225G>C)
n.211+4505G>C
n.778+2473G>C
c.-20+1318G>C (n.-20+1318G>C)
 gnomAD v3 gnomAD v4
7g.56029456C>TCA159022492PSPHc.-20+2473G>A (n.-20+2473G>A)
c.-19-8225G>A (n.-19-8225G>A)
n.211+4505G>A
n.778+2473G>A
c.-20+1318G>A (n.-20+1318G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.56029457T>ACA2775528339PSPHc.-20+2472A>T (n.-20+2472A>T)
c.-19-8226A>T (n.-19-8226A>T)
n.211+4504A>T
n.778+2472A>T
c.-20+1317A>T (n.-20+1317A>T)
7g.56029458A>TCA1101605323PSPHc.-20+2471T>A (n.-20+2471T>A)
c.-19-8227T>A (n.-19-8227T>A)
n.211+4503T>A
n.778+2471T>A
c.-20+1316T>A (n.-20+1316T>A)
 gnomAD v3 gnomAD v4
7g.56029459G>TCA1101605325PSPHc.-20+2470C>A (n.-20+2470C>A)
c.-19-8228C>A (n.-19-8228C>A)
n.211+4502C>A
n.778+2470C>A
c.-20+1315C>A (n.-20+1315C>A)
 dbSNP gnomAD v3 gnomAD v4
7g.56029461T>ACA2598106845PSPHc.-20+2468A>T (n.-20+2468A>T)
c.-19-8230A>T (n.-19-8230A>T)
n.211+4500A>T
n.778+2468A>T
c.-20+1313A>T (n.-20+1313A>T)
 gnomAD v3 gnomAD v4
7g.56029462C>ACA1101605327PSPHc.-20+2467G>T (n.-20+2467G>T)
c.-19-8231G>T (n.-19-8231G>T)
n.211+4499G>T
n.778+2467G>T
c.-20+1312G>T (n.-20+1312G>T)
 dbSNP gnomAD v3 gnomAD v4
7g.56029462C=CA1709308664PSPHc.-20+2467G= (n.-20+2467G=)
c.-19-8231G= (n.-19-8231G=)
n.211+4499G=
n.778+2467G=
c.-20+1312G= (n.-20+1312G=)
7g.56029463A=CA1709308665PSPHc.-20+2466T= (n.-20+2466T=)
c.-19-8232T= (n.-19-8232T=)
n.211+4498T=
n.778+2466T=
c.-20+1311T= (n.-20+1311T=)
7g.56029463A>GCA159022496PSPHc.-20+2466T>C (n.-20+2466T>C)
c.-19-8232T>C (n.-19-8232T>C)
n.211+4498T>C
n.778+2466T>C
c.-20+1311T>C (n.-20+1311T>C)
 dbSNP
7g.56029464T>ACA2775528340PSPHc.-20+2465A>T (n.-20+2465A>T)
c.-19-8233A>T (n.-19-8233A>T)
n.211+4497A>T
n.778+2465A>T
c.-20+1310A>T (n.-20+1310A>T)
7g.56029465C>ACA1709308669PSPHc.-20+2464G>T (n.-20+2464G>T)
c.-19-8234G>T (n.-19-8234G>T)
n.211+4496G>T
n.778+2464G>T
c.-20+1309G>T (n.-20+1309G>T)
 dbSNP
7g.56029465C=CA1709308667PSPHc.-20+2464G= (n.-20+2464G=)
c.-19-8234G= (n.-19-8234G=)
n.211+4496G=
n.778+2464G=
c.-20+1309G= (n.-20+1309G=)
7g.56029466T>ACA1709308673PSPHc.-20+2463A>T (n.-20+2463A>T)
c.-19-8235A>T (n.-19-8235A>T)
n.211+4495A>T
n.778+2463A>T
c.-20+1308A>T (n.-20+1308A>T)
 dbSNP
7g.56029466T=CA1709308671PSPHc.-20+2463A= (n.-20+2463A=)
c.-19-8235A= (n.-19-8235A=)
n.211+4495A=
n.778+2463A=
c.-20+1308A= (n.-20+1308A=)
7g.56029467C>ACA2598106846PSPHc.-20+2462G>T (n.-20+2462G>T)
c.-19-8236G>T (n.-19-8236G>T)
n.211+4494G>T
n.778+2462G>T
c.-20+1307G>T (n.-20+1307G>T)
 gnomAD v3 gnomAD v4
7g.56029469T>ACA2526200424PSPHc.-20+2460A>T (n.-20+2460A>T)
c.-19-8238A>T (n.-19-8238A>T)
n.211+4492A>T
n.778+2460A>T
c.-20+1305A>T (n.-20+1305A>T)
7g.56029469T>GCA1101605328PSPHc.-20+2460A>C (n.-20+2460A>C)
c.-19-8238A>C (n.-19-8238A>C)
n.211+4492A>C
n.778+2460A>C
c.-20+1305A>C (n.-20+1305A>C)
 gnomAD v3 gnomAD v4
7g.56029471G>ACA1101605331PSPHc.-20+2458C>T (n.-20+2458C>T)
c.-19-8240C>T (n.-19-8240C>T)
n.211+4490C>T
n.778+2458C>T
c.-20+1303C>T (n.-20+1303C>T)
 gnomAD v3 gnomAD v4
7g.56029472C>ACA1101605333PSPHc.-20+2457G>T (n.-20+2457G>T)
c.-19-8241G>T (n.-19-8241G>T)
n.211+4489G>T
n.778+2457G>T
c.-20+1302G>T (n.-20+1302G>T)
 dbSNP gnomAD v3 gnomAD v4
7g.56029472C=CA1709308674PSPHc.-20+2457G= (n.-20+2457G=)
c.-19-8241G= (n.-19-8241G=)
n.211+4489G=
n.778+2457G=
c.-20+1302G= (n.-20+1302G=)
7g.56029475G>ACA839899353PSPHc.-20+2454C>T (n.-20+2454C>T)
c.-19-8244C>T (n.-19-8244C>T)
n.211+4486C>T
n.778+2454C>T
c.-20+1299C>T (n.-20+1299C>T)
 dbSNP gnomAD v3 gnomAD v4
7g.56029475G>CCA2775528341PSPHc.-20+2454C>G (n.-20+2454C>G)
c.-19-8244C>G (n.-19-8244C>G)
n.211+4486C>G
n.778+2454C>G
c.-20+1299C>G (n.-20+1299C>G)
7g.56029475G=CA1709308675PSPHc.-20+2454C= (n.-20+2454C=)
c.-19-8244C= (n.-19-8244C=)
n.211+4486C=
n.778+2454C=
c.-20+1299C= (n.-20+1299C=)
7g.56029476C>ACA839899369PSPHc.-20+2453G>T (n.-20+2453G>T)
c.-19-8245G>T (n.-19-8245G>T)
n.211+4485G>T
n.778+2453G>T
c.-20+1298G>T (n.-20+1298G>T)
 dbSNP gnomAD v3 gnomAD v4
7g.56029476C=CA1709308677PSPHc.-20+2453G= (n.-20+2453G=)
c.-19-8245G= (n.-19-8245G=)
n.211+4485G=
n.778+2453G=
c.-20+1298G= (n.-20+1298G=)
7g.56029479A=CA1709308678PSPHc.-20+2450T= (n.-20+2450T=)
c.-19-8248T= (n.-19-8248T=)
n.211+4482T=
n.778+2450T=
c.-20+1295T= (n.-20+1295T=)
7g.56029479A>GCA839899372PSPHc.-20+2450T>C (n.-20+2450T>C)
c.-19-8248T>C (n.-19-8248T>C)
n.211+4482T>C
n.778+2450T>C
c.-20+1295T>C (n.-20+1295T>C)
 dbSNP
7g.56029480G>ACA1101605339PSPHc.-20+2449C>T (n.-20+2449C>T)
c.-19-8249C>T (n.-19-8249C>T)
n.211+4481C>T
n.778+2449C>T
c.-20+1294C>T (n.-20+1294C>T)
 gnomAD v3 gnomAD v4
7g.56029481G>ACA1101605345PSPHc.-20+2448C>T (n.-20+2448C>T)
c.-19-8250C>T (n.-19-8250C>T)
n.211+4480C>T
n.778+2448C>T
c.-20+1293C>T (n.-20+1293C>T)
 gnomAD v3 gnomAD v4
7g.56029481G>CCA2598106849PSPHc.-20+2448C>G (n.-20+2448C>G)
c.-19-8250C>G (n.-19-8250C>G)
n.211+4480C>G
n.778+2448C>G
c.-20+1293C>G (n.-20+1293C>G)
 gnomAD v3 gnomAD v4
7g.56029481G>TCA1101605347PSPHc.-20+2448C>A (n.-20+2448C>A)
c.-19-8250C>A (n.-19-8250C>A)
n.211+4480C>A
n.778+2448C>A
c.-20+1293C>A (n.-20+1293C>A)
 gnomAD v3 gnomAD v4
7g.56029482A>CCA1101605350PSPHc.-20+2447T>G (n.-20+2447T>G)
c.-19-8251T>G (n.-19-8251T>G)
n.211+4479T>G
n.778+2447T>G
c.-20+1292T>G (n.-20+1292T>G)
 gnomAD v3 gnomAD v4
7g.56029483C>ACA1101605357PSPHc.-20+2446G>T (n.-20+2446G>T)
c.-19-8252G>T (n.-19-8252G>T)
n.211+4478G>T
n.778+2446G>T
c.-20+1291G>T (n.-20+1291G>T)
 gnomAD v3 gnomAD v4
7g.56029484C>ACA574353749PSPHc.-20+2445G>T (n.-20+2445G>T)
c.-19-8253G>T (n.-19-8253G>T)
n.211+4477G>T
n.778+2445G>T
c.-20+1290G>T (n.-20+1290G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.56029484C=CA1709308679PSPHc.-20+2445G= (n.-20+2445G=)
c.-19-8253G= (n.-19-8253G=)
n.211+4477G=
n.778+2445G=
c.-20+1290G= (n.-20+1290G=)
7g.56029486A>CCA2775528342PSPHc.-20+2443T>G (n.-20+2443T>G)
c.-19-8255T>G (n.-19-8255T>G)
n.211+4475T>G
n.778+2443T>G
c.-20+1288T>G (n.-20+1288T>G)
7g.56029487C>ACA1101605360PSPHc.-20+2442G>T (n.-20+2442G>T)
c.-19-8256G>T (n.-19-8256G>T)
n.211+4474G>T
n.778+2442G>T
c.-20+1287G>T (n.-20+1287G>T)
 dbSNP gnomAD v3 gnomAD v4
7g.56029487C=CA1709308681PSPHc.-20+2442G= (n.-20+2442G=)
c.-19-8256G= (n.-19-8256G=)
n.211+4474G=
n.778+2442G=
c.-20+1287G= (n.-20+1287G=)
7g.56029487C>GCA1709308682PSPHc.-20+2442G>C (n.-20+2442G>C)
c.-19-8256G>C (n.-19-8256G>C)
n.211+4474G>C
n.778+2442G>C
c.-20+1287G>C (n.-20+1287G>C)
 dbSNP
7g.56029488T>ACA574353750PSPHc.-20+2441A>T (n.-20+2441A>T)
c.-19-8257A>T (n.-19-8257A>T)
n.211+4473A>T
n.778+2441A>T
c.-20+1286A>T (n.-20+1286A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.56029488T>GCA1101605363PSPHc.-20+2441A>C (n.-20+2441A>C)
c.-19-8257A>C (n.-19-8257A>C)
n.211+4473A>C
n.778+2441A>C
c.-20+1286A>C (n.-20+1286A>C)
 gnomAD v3 gnomAD v4
7g.56029488T=CA1709308684PSPHc.-20+2441A= (n.-20+2441A=)
c.-19-8257A= (n.-19-8257A=)
n.211+4473A=
n.778+2441A=
c.-20+1286A= (n.-20+1286A=)
7g.56029488dupCA2775528343PSPHc.-20+2441dup (n.-20+2441dup)
c.-19-8257dup (n.-19-8257dup)
n.211+4473dup
n.778+2441dup
c.-20+1286dup (n.-20+1286dup)
7g.56029489delCA1101605381PSPHc.-20+2440del (n.-20+2440del)
c.-19-8258del (n.-19-8258del)
n.211+4472del
n.778+2440del
c.-20+1285del (n.-20+1285del)
 gnomAD v3 gnomAD v4
7g.56029489G>ACA839899385PSPHc.-20+2440C>T (n.-20+2440C>T)
c.-19-8258C>T (n.-19-8258C>T)
n.211+4472C>T
n.778+2440C>T
c.-20+1285C>T (n.-20+1285C>T)
 dbSNP gnomAD v3 gnomAD v4
7g.56029489G=CA1709308686PSPHc.-20+2440C= (n.-20+2440C=)
c.-19-8258C= (n.-19-8258C=)
n.211+4472C=
n.778+2440C=
c.-20+1285C= (n.-20+1285C=)
7g.56029489G>TCA1101605379PSPHc.-20+2440C>A (n.-20+2440C>A)
c.-19-8258C>A (n.-19-8258C>A)
n.211+4472C>A
n.778+2440C>A
c.-20+1285C>A (n.-20+1285C>A)
 dbSNP gnomAD v3 gnomAD v4
7g.56029490A>TCA1101605382PSPHc.-20+2439T>A (n.-20+2439T>A)
c.-19-8259T>A (n.-19-8259T>A)
n.211+4471T>A
n.778+2439T>A
c.-20+1284T>A (n.-20+1284T>A)
 gnomAD v3 gnomAD v4
7g.56029490_56029491delinsATCA1709308687PSPHc.-20+2438_-20+2439delinsAT (n.-20+2438_-20+2439delinsAT)
c.-19-8260_-19-8259delinsAT (n.-19-8260_-19-8259delinsAT)
n.211+4470_211+4471delinsAT
n.778+2438_778+2439delinsAT
c.-20+1283_-20+1284delinsAT (n.-20+1283_-20+1284delinsAT)
7g.56029491T>ACA574353751PSPHc.-20+2438A>T (n.-20+2438A>T)
c.-19-8260A>T (n.-19-8260A>T)
n.211+4470A>T
n.778+2438A>T
c.-20+1283A>T (n.-20+1283A>T)
 gnomAD v2 gnomAD v3 gnomAD v4
7g.56029491T=CA1709308691PSPHc.-20+2438A= (n.-20+2438A=)
c.-19-8260A= (n.-19-8260A=)
n.211+4470A=
n.778+2438A=
c.-20+1283A= (n.-20+1283A=)
7g.56029492dupCA1709308690PSPHc.-20+2438dup (n.-20+2438dup)
c.-19-8260dup (n.-19-8260dup)
n.211+4470dup
n.778+2438dup
c.-20+1283dup (n.-20+1283dup)
 dbSNP
7g.56029492delCA1101605383PSPHc.-20+2438del (n.-20+2438del)
c.-19-8260del (n.-19-8260del)
n.211+4470del
n.778+2438del
c.-20+1283del (n.-20+1283del)
 dbSNP gnomAD v3 gnomAD v4
7g.56029491_56029492insACA1101605386PSPHc.-20+2437_-20+2438insT (n.-20+2437_-20+2438insT)
c.-19-8261_-19-8260insT (n.-19-8261_-19-8260insT)
n.211+4469_211+4470insT
n.778+2437_778+2438insT
c.-20+1282_-20+1283insT (n.-20+1282_-20+1283insT)
 dbSNP gnomAD v3 gnomAD v4
7g.56029491_56029492insAACA1101605407PSPHc.-20+2437_-20+2438insTT (n.-20+2437_-20+2438insTT)
c.-19-8261_-19-8260insTT (n.-19-8261_-19-8260insTT)
n.211+4469_211+4470insTT
n.778+2437_778+2438insTT
c.-20+1282_-20+1283insTT (n.-20+1282_-20+1283insTT)
 dbSNP gnomAD v3 gnomAD v4
7g.56029492T>ACA574353752PSPHc.-20+2437A>T (n.-20+2437A>T)
c.-19-8261A>T (n.-19-8261A>T)
n.211+4469A>T
n.778+2437A>T
c.-20+1282A>T (n.-20+1282A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.56029492T>GCA2775528344PSPHc.-20+2437A>C (n.-20+2437A>C)
c.-19-8261A>C (n.-19-8261A>C)
n.211+4469A>C
n.778+2437A>C
c.-20+1282A>C (n.-20+1282A>C)
7g.56029492T=CA1709308693PSPHc.-20+2437A= (n.-20+2437A=)
c.-19-8261A= (n.-19-8261A=)
n.211+4469A=
n.778+2437A=
c.-20+1282A= (n.-20+1282A=)
7g.56029492_56029499delinsTAAAAAAACA1709308694PSPHc.-20+2430_-20+2437delinsTTTTTTTA (n.-20+2430_-20+2437delinsTTTTTTTA)
c.-19-8268_-19-8261delinsTTTTTTTA (n.-19-8268_-19-8261delinsTTTTTTTA)
n.211+4462_211+4469delinsTTTTTTTA
n.778+2430_778+2437delinsTTTTTTTA
c.-20+1275_-20+1282delinsTTTTTTTA (n.-20+1275_-20+1282delinsTTTTTTTA)
7g.56029492_56029493insTTACA1101605465PSPHc.-20+2436_-20+2437insTAA (n.-20+2436_-20+2437insTAA)
c.-19-8262_-19-8261insTAA (n.-19-8262_-19-8261insTAA)
n.211+4468_211+4469insTAA
n.778+2436_778+2437insTAA
c.-20+1281_-20+1282insTAA (n.-20+1281_-20+1282insTAA)
 gnomAD v3 gnomAD v4
7g.56029493A=CA1709308705PSPHc.-20+2436T= (n.-20+2436T=)
c.-19-8262T= (n.-19-8262T=)
n.211+4468T=
n.778+2436T=
c.-20+1281T= (n.-20+1281T=)
7g.56029493A>TCA574353753PSPHc.-20+2436T>A (n.-20+2436T>A)
c.-19-8262T>A (n.-19-8262T>A)
n.211+4468T>A
n.778+2436T>A
c.-20+1281T>A (n.-20+1281T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.56029505_56029506insCAAAAAAAAAAAAAAAAAAAAAAACA2775528347PSPHc.-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)
7g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAACA2740844496PSPHc.-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)
7g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAACA1101605555PSPHc.-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
7g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAACA1101605437PSPHc.-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
7g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAAACA1101605457PSPHc.-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
7g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAAAACA1101605456PSPHc.-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
7g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAAAAACA1101605459PSPHc.-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
7g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1101605454PSPHc.-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
7g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1101605451PSPHc.-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
7g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1101605445PSPHc.-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
7g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1101605438PSPHc.-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
7g.56029513_56029514insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1101605464PSPHc.-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
7g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA2598106866PSPHc.-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
7g.56029513_56029514insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1101605463PSPHc.-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
7g.56029513_56029514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1101605436PSPHc.-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
7g.56029513dupCA159022512PSPHc.-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
7g.56029512_56029513dupCA574353758PSPHc.-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
7g.56029511_56029513dupCA574353755PSPHc.-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
7g.56029510_56029513dupCA574353754PSPHc.-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
7g.56029509_56029513dupCA1101605481PSPHc.-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
7g.56029508_56029513dupCA1101605490PSPHc.-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
7g.56029507_56029513dupCA1101605492PSPHc.-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
7g.56029506_56029513dupCA1101605507PSPHc.-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
7g.56029505_56029513dupCA1101605521PSPHc.-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
7g.56029504_56029513dupCA1101605566PSPHc.-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
7g.56029503_56029513dupCA1101605537PSPHc.-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
7g.56029502_56029513dupCA1101605541PSPHc.-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)
7g.56029500_56029513dupCA1101605548PSPHc.-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
7g.56029499_56029513dupCA1101605549PSPHc.-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
7g.56029498_56029513dupCA1101605550PSPHc.-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
7g.56029497_56029513dupCA1101605552PSPHc.-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
7g.56029496_56029513dupCA1101605553PSPHc.-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
7g.56029493_56029513dupCA1101605479PSPHc.-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
7g.56029513delCA574353757PSPHc.-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
7g.56029512_56029513delCA839899423PSPHc.-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
7g.56029511_56029513delCA839899404PSPHc.-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
7g.56029510_56029513delCA1101605470PSPHc.-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
7g.56029509_56029513delCA1101605474PSPHc.-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
7g.56029508_56029513delCA2775528346PSPHc.-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)
7g.56029507_56029513delCA1709308707PSPHc.-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
7g.56029503_56029513delCA2775528345PSPHc.-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)
7g.56029514_56029515insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCA2775528348PSPHc.-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)
7g.56029495A=CA1709308713PSPHc.-20+2434T= (n.-20+2434T=)
c.-19-8264T= (n.-19-8264T=)
n.211+4466T=
n.778+2434T=
c.-20+1279T= (n.-20+1279T=)
7g.56029495_56029496insGCA1101605585PSPHc.-20+2433_-20+2434insC (n.-20+2433_-20+2434insC)
c.-19-8265_-19-8264insC (n.-19-8265_-19-8264insC)
n.211+4465_211+4466insC
n.778+2433_778+2434insC
c.-20+1278_-20+1279insC (n.-20+1278_-20+1279insC)
 dbSNP gnomAD v3 gnomAD v4
7g.56029496A=CA1709308714PSPHc.-20+2433T= (n.-20+2433T=)
c.-19-8265T= (n.-19-8265T=)
n.211+4465T=
n.778+2433T=
c.-20+1278T= (n.-20+1278T=)
7g.56029496_56029497insGCA839899436PSPHc.-20+2432_-20+2433insC (n.-20+2432_-20+2433insC)
c.-19-8266_-19-8265insC (n.-19-8266_-19-8265insC)
n.211+4464_211+4465insC
n.778+2432_778+2433insC
c.-20+1277_-20+1278insC (n.-20+1277_-20+1278insC)
 dbSNP gnomAD v3 gnomAD v4
7g.56029501A=CA1709308716PSPHc.-20+2428T= (n.-20+2428T=)
c.-19-8270T= (n.-19-8270T=)
n.211+4460T=
n.778+2428T=
c.-20+1273T= (n.-20+1273T=)
7g.56029501A>GCA159022522PSPHc.-20+2428T>C (n.-20+2428T>C)
c.-19-8270T>C (n.-19-8270T>C)
n.211+4460T>C
n.778+2428T>C
c.-20+1273T>C (n.-20+1273T>C)
 dbSNP
7g.56029502A=CA1709308717PSPHc.-20+2427T= (n.-20+2427T=)
c.-19-8271T= (n.-19-8271T=)
n.211+4459T=
n.778+2427T=
c.-20+1272T= (n.-20+1272T=)
7g.56029502A>GCA574353759PSPHc.-20+2427T>C (n.-20+2427T>C)
c.-19-8271T>C (n.-19-8271T>C)
n.211+4459T>C
n.778+2427T>C
c.-20+1272T>C (n.-20+1272T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.56029503A=CA1709308719PSPHc.-20+2426T= (n.-20+2426T=)
c.-19-8272T= (n.-19-8272T=)
n.211+4458T=
n.778+2426T=
c.-20+1271T= (n.-20+1271T=)
7g.56029503A>GCA1101605590PSPHc.-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
7g.56029507A=CA1709308720PSPHc.-20+2422T= (n.-20+2422T=)
c.-19-8276T= (n.-19-8276T=)
n.211+4454T=
n.778+2422T=
c.-20+1267T= (n.-20+1267T=)
7g.56029507A>GCA1709308721PSPHc.-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
7g.56029508A>TCA2598106872PSPHc.-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
7g.56029509A>CCA2598106873PSPHc.-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
7g.56029512A=CA1709308722PSPHc.-20+2417T= (n.-20+2417T=)
c.-19-8281T= (n.-19-8281T=)
n.211+4449T=
n.778+2417T=
c.-20+1262T= (n.-20+1262T=)
7g.56029512A>CCA2775528349PSPHc.-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)
7g.56029512A>GCA159022526PSPHc.-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
7g.56029513A>CCA2598106874PSPHc.-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
7g.56029513_56029514delCA2569963961PSPHc.-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)
7g.56029513_56029516delinsAGCCCA1709308724PSPHc.-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)
7g.56029513_56029514insCCA2775528350PSPHc.-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)
7g.56029514delCA2832204102PSPHc.-20+2415del (n.-20+2415del)
c.-19-8283del (n.-19-8283del)
n.211+4447del
n.778+2415del
c.-20+1260del (n.-20+1260del)
7g.56029514G>ACA574353761PSPHc.-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
7g.56029514G>CCA2775528351PSPHc.-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)
7g.56029514G=CA1709308725PSPHc.-20+2415C= (n.-20+2415C=)
c.-19-8283C= (n.-19-8283C=)
n.211+4447C=
n.778+2415C=
c.-20+1260C= (n.-20+1260C=)
7g.56029514_56029515delCA1101605593PSPHc.-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
7g.56029514_56029516delCA574353760PSPHc.-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
7g.56029514_56029523delCA2714934361PSPHc.-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
7g.56029515C>ACA574353762PSPHc.-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
7g.56029515C=CA1709308727PSPHc.-20+2414G= (n.-20+2414G=)
c.-19-8284G= (n.-19-8284G=)
n.211+4446G=
n.778+2414G=
c.-20+1259G= (n.-20+1259G=)
7g.56029515_56029516insAAACA1101605600PSPHc.-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
7g.56029516C>ACA574353763PSPHc.-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
7g.56029516C=CA1709308728PSPHc.-20+2413G= (n.-20+2413G=)
c.-19-8285G= (n.-19-8285G=)
n.211+4445G=
n.778+2413G=
c.-20+1258G= (n.-20+1258G=)
7g.56029517A=CA1709308730PSPHc.-20+2412T= (n.-20+2412T=)
c.-19-8286T= (n.-19-8286T=)
n.211+4444T=
n.778+2412T=
c.-20+1257T= (n.-20+1257T=)
7g.56029517A>CCA1101605605PSPHc.-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
7g.56029517A>GCA2714577455PSPHc.-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
7g.56029517_56029518insAAAACA574353764PSPHc.-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
7g.56029517_56029518insAAAAAACA1101605603PSPHc.-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
7g.56029517_56029518insAAAAAAACA1101605604PSPHc.-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
7g.56029518C>ACA1101605607PSPHc.-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
7g.56029519T>ACA1101605608PSPHc.-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
7g.56029519T>GCA1709308733PSPHc.-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
7g.56029519T=CA1709308732PSPHc.-20+2410A= (n.-20+2410A=)
c.-19-8288A= (n.-19-8288A=)
n.211+4442A=
n.778+2410A=
c.-20+1255A= (n.-20+1255A=)
7g.56029520G>ACA1709308735PSPHc.-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
7g.56029520G=CA1709308734PSPHc.-20+2409C= (n.-20+2409C=)
c.-19-8289C= (n.-19-8289C=)
n.211+4441C=
n.778+2409C=
c.-20+1254C= (n.-20+1254C=)
7g.56029522T>CCA1709308737PSPHc.-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
7g.56029522T=CA1709308738PSPHc.-20+2407A= (n.-20+2407A=)
c.-19-8291A= (n.-19-8291A=)
n.211+4439A=
n.778+2407A=
c.-20+1252A= (n.-20+1252A=)
7g.56029523G>ACA1101605613PSPHc.-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
7g.56029523G>TCA2775528352PSPHc.-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)
7g.56029524A=CA1709308739PSPHc.-20+2405T= (n.-20+2405T=)
c.-19-8293T= (n.-19-8293T=)
n.211+4437T=
n.778+2405T=
c.-20+1250T= (n.-20+1250T=)
7g.56029524A>TCA839899471PSPHc.-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
7g.56029525C>ACA2714934554PSPHc.-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
7g.56029526A>CCA2775528353PSPHc.-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)
7g.56029529G>CCA2714934555PSPHc.-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
7g.56029530C>ACA159022530PSPHc.-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
7g.56029530C=CA1709308741PSPHc.-20+2399G= (n.-20+2399G=)
c.-19-8299G= (n.-19-8299G=)
n.211+4431G=
n.778+2399G=
c.-20+1244G= (n.-20+1244G=)
7g.56029532T>CCA1709308743PSPHc.-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
7g.56029532T=CA1709308742PSPHc.-20+2397A= (n.-20+2397A=)
c.-19-8301A= (n.-19-8301A=)
n.211+4429A=
n.778+2397A=
c.-20+1242A= (n.-20+1242A=)
7g.56029534C>ACA2775528354PSPHc.-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)
7g.56029535T>ACA2598106876PSPHc.-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
7g.56029535T>CCA2714934556PSPHc.-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
7g.56029536C>ACA2775528355PSPHc.-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)
7g.56029537A=CA1709308744PSPHc.-20+2392T= (n.-20+2392T=)
c.-19-8306T= (n.-19-8306T=)
n.211+4424T=
n.778+2392T=
c.-20+1237T= (n.-20+1237T=)
7g.56029537A>CCA2714624485PSPHc.-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
7g.56029537A>GCA1101605619PSPHc.-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
7g.56029538T>ACA2598106877PSPHc.-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
7g.56029538T>GCA2775528356PSPHc.-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)
7g.56029540C=CA1709308745PSPHc.-20+2389G= (n.-20+2389G=)
c.-19-8309G= (n.-19-8309G=)
n.211+4421G=
n.778+2389G=
c.-20+1234G= (n.-20+1234G=)
7g.56029540C>TCA159022535PSPHc.-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
7g.56029541C=CA1709308747PSPHc.-20+2388G= (n.-20+2388G=)
c.-19-8310G= (n.-19-8310G=)
n.211+4420G=
n.778+2388G=
c.-20+1233G= (n.-20+1233G=)
7g.56029541C>TCA839899475PSPHc.-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
7g.56029542T>ACA2775528357PSPHc.-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)
7g.56029542T>CCA2714934842PSPHc.-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
7g.56029544G>CCA159022539PSPHc.-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
7g.56029544G=CA1709308748PSPHc.-20+2385C= (n.-20+2385C=)
c.-19-8313C= (n.-19-8313C=)
n.211+4417C=
n.778+2385C=
c.-20+1230C= (n.-20+1230C=)
7g.56029546T>ACA1709308749PSPHc.-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
7g.56029546T=CA1709308750PSPHc.-20+2383A= (n.-20+2383A=)
c.-19-8315A= (n.-19-8315A=)
n.211+4415A=
n.778+2383A=
c.-20+1228A= (n.-20+1228A=)

Number of alleles fetched