Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.71611547dup | CA2740095629 | DYSF | c.1556dup (p.Gln520ProfsTer18) c.773dup (p.Gln259ProfsTer18) c.731dup (p.Gln245ProfsTer18) c.4088dup (p.Gln1364ProfsTer18) c.4142dup (p.Gln1382ProfsTer18) c.4091dup (p.Gln1365ProfsTer18) c.4139dup (p.Gln1381ProfsTer18) c.4184dup (p.Gln1396ProfsTer18) c.4049dup (p.Gln1351ProfsTer18) c.4181dup (p.Gln1395ProfsTer18) n.324dup n.472dup n.973dup n.307dup n.386dup c.4046dup (p.Gln1350ProfsTer18) n.4342dup | ClinVar |
2 | g.71611546_71611547del | CA2697548250 | DYSF | c.1555_1556del (p.Gly519ProfsTer18) c.772_773del (p.Gly258ProfsTer18) c.730_731del (p.Gly244ProfsTer18) c.4087_4088del (p.Gly1363ProfsTer18) c.4141_4142del (p.Gly1381ProfsTer18) c.4090_4091del (p.Gly1364ProfsTer18) c.4138_4139del (p.Gly1380ProfsTer18) c.4183_4184del (p.Gly1395ProfsTer18) c.4048_4049del (p.Gly1350ProfsTer18) c.4180_4181del (p.Gly1394ProfsTer18) n.323_324del n.471_472del n.972_973del n.306_307del n.385_386del c.4045_4046del (p.Gly1349ProfsTer18) n.4341_4342del | ClinVar |
2 | g.71611547G>A | CA347228554 | DYSF | c.1556G>A (p.Gly519Asp) c.773G>A (p.Gly258Asp) c.731G>A (p.Gly244Asp) c.4088G>A (p.Gly1363Asp) c.4142G>A (p.Gly1381Asp) c.4091G>A (p.Gly1364Asp) c.4139G>A (p.Gly1380Asp) c.4184G>A (p.Gly1395Asp) c.4049G>A (p.Gly1350Asp) c.4181G>A (p.Gly1394Asp) n.324G>A n.472G>A n.973G>A n.307G>A n.386G>A c.4046G>A (p.Gly1349Asp) n.4342G>A | |
2 | g.71611547G>C | CA1706902 | DYSF | c.1556G>C (p.Gly519Ala) c.773G>C (p.Gly258Ala) c.731G>C (p.Gly244Ala) c.4088G>C (p.Gly1363Ala) c.4142G>C (p.Gly1381Ala) c.4091G>C (p.Gly1364Ala) c.4139G>C (p.Gly1380Ala) c.4184G>C (p.Gly1395Ala) c.4049G>C (p.Gly1350Ala) c.4181G>C (p.Gly1394Ala) n.324G>C n.472G>C n.973G>C n.307G>C n.386G>C c.4046G>C (p.Gly1349Ala) n.4342G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611547G= | CA1260124159 | DYSF | c.1556G= (p.Gly519=) c.773G= (p.Gly258=) c.731G= (p.Gly244=) c.4088G= (p.Gly1363=) c.4142G= (p.Gly1381=) c.4091G= (p.Gly1364=) c.4139G= (p.Gly1380=) c.4184G= (p.Gly1395=) c.4049G= (p.Gly1350=) c.4181G= (p.Gly1394=) n.324G= n.472G= n.973G= n.307G= n.386G= c.4046G= (p.Gly1349=) n.4342G= | |
2 | g.71611547G>T | CA347228555 | DYSF | c.1556G>T (p.Gly519Val) c.773G>T (p.Gly258Val) c.731G>T (p.Gly244Val) c.4088G>T (p.Gly1363Val) c.4142G>T (p.Gly1381Val) c.4091G>T (p.Gly1364Val) c.4139G>T (p.Gly1380Val) c.4184G>T (p.Gly1395Val) c.4049G>T (p.Gly1350Val) c.4181G>T (p.Gly1394Val) n.324G>T n.472G>T n.973G>T n.307G>T n.386G>T c.4046G>T (p.Gly1349Val) n.4342G>T | |
2 | g.71611548C>A | CA426758659 | DYSF | c.1557C>A (p.Gly519=) c.774C>A (p.Gly258=) c.732C>A (p.Gly244=) c.4089C>A (p.Gly1363=) c.4143C>A (p.Gly1381=) c.4092C>A (p.Gly1364=) c.4140C>A (p.Gly1380=) c.4185C>A (p.Gly1395=) c.4050C>A (p.Gly1350=) c.4182C>A (p.Gly1394=) n.325C>A n.473C>A n.974C>A n.308C>A n.387C>A c.4047C>A (p.Gly1349=) n.4343C>A | |
2 | g.71611548C= | CA1260124160 | DYSF | c.1557C= (p.Gly519=) c.774C= (p.Gly258=) c.732C= (p.Gly244=) c.4089C= (p.Gly1363=) c.4143C= (p.Gly1381=) c.4092C= (p.Gly1364=) c.4140C= (p.Gly1380=) c.4185C= (p.Gly1395=) c.4050C= (p.Gly1350=) c.4182C= (p.Gly1394=) n.325C= n.473C= n.974C= n.308C= n.387C= c.4047C= (p.Gly1349=) n.4343C= | |
2 | g.71611548C>G | CA426758664 | DYSF | c.1557C>G (p.Gly519=) c.774C>G (p.Gly258=) c.732C>G (p.Gly244=) c.4089C>G (p.Gly1363=) c.4143C>G (p.Gly1381=) c.4092C>G (p.Gly1364=) c.4140C>G (p.Gly1380=) c.4185C>G (p.Gly1395=) c.4050C>G (p.Gly1350=) c.4182C>G (p.Gly1394=) n.325C>G n.473C>G n.974C>G n.308C>G n.387C>G c.4047C>G (p.Gly1349=) n.4343C>G | |
2 | g.71611548C>T | CA1706903 | DYSF | c.1557C>T (p.Gly519=) c.774C>T (p.Gly258=) c.732C>T (p.Gly244=) c.4089C>T (p.Gly1363=) c.4143C>T (p.Gly1381=) c.4092C>T (p.Gly1364=) c.4140C>T (p.Gly1380=) c.4185C>T (p.Gly1395=) c.4050C>T (p.Gly1350=) c.4182C>T (p.Gly1394=) n.325C>T n.473C>T n.974C>T n.308C>T n.387C>T c.4047C>T (p.Gly1349=) n.4343C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611549C>A | CA347228556 | DYSF | c.1558C>A (p.Gln520Lys) c.775C>A (p.Gln259Lys) c.733C>A (p.Gln245Lys) c.4090C>A (p.Gln1364Lys) c.4144C>A (p.Gln1382Lys) c.4093C>A (p.Gln1365Lys) c.4141C>A (p.Gln1381Lys) c.4186C>A (p.Gln1396Lys) c.4051C>A (p.Gln1351Lys) c.4183C>A (p.Gln1395Lys) n.326C>A n.474C>A n.975C>A n.309C>A n.388C>A c.4048C>A (p.Gln1350Lys) n.4344C>A | |
2 | g.71611549C= | CA1260124161 | DYSF | c.1558C= (p.Gln520=) c.775C= (p.Gln259=) c.733C= (p.Gln245=) c.4090C= (p.Gln1364=) c.4144C= (p.Gln1382=) c.4093C= (p.Gln1365=) c.4141C= (p.Gln1381=) c.4186C= (p.Gln1396=) c.4051C= (p.Gln1351=) c.4183C= (p.Gln1395=) n.326C= n.474C= n.975C= n.309C= n.388C= c.4048C= (p.Gln1350=) n.4344C= | |
2 | g.71611549C>G | CA347228557 | DYSF | c.1558C>G (p.Gln520Glu) c.775C>G (p.Gln259Glu) c.733C>G (p.Gln245Glu) c.4090C>G (p.Gln1364Glu) c.4144C>G (p.Gln1382Glu) c.4093C>G (p.Gln1365Glu) c.4141C>G (p.Gln1381Glu) c.4186C>G (p.Gln1396Glu) c.4051C>G (p.Gln1351Glu) c.4183C>G (p.Gln1395Glu) n.326C>G n.474C>G n.975C>G n.309C>G n.388C>G c.4048C>G (p.Gln1350Glu) n.4344C>G | |
2 | g.71611549C>T | CA10603803 | DYSF | c.1558C>T (p.Gln520Ter) c.775C>T (p.Gln259Ter) c.733C>T (p.Gln245Ter) c.4090C>T (p.Gln1364Ter) c.4144C>T (p.Gln1382Ter) c.4093C>T (p.Gln1365Ter) c.4141C>T (p.Gln1381Ter) c.4186C>T (p.Gln1396Ter) c.4051C>T (p.Gln1351Ter) c.4183C>T (p.Gln1395Ter) n.326C>T n.474C>T n.975C>T n.309C>T n.388C>T c.4048C>T (p.Gln1350Ter) n.4344C>T | ClinVar dbSNP gnomAD v4 |
2 | g.71611550A>C | CA347228560 | DYSF | c.1559A>C (p.Gln520Pro) c.776A>C (p.Gln259Pro) c.734A>C (p.Gln245Pro) c.4091A>C (p.Gln1364Pro) c.4145A>C (p.Gln1382Pro) c.4094A>C (p.Gln1365Pro) c.4142A>C (p.Gln1381Pro) c.4187A>C (p.Gln1396Pro) c.4052A>C (p.Gln1351Pro) c.4184A>C (p.Gln1395Pro) n.327A>C n.475A>C n.976A>C n.310A>C n.389A>C c.4049A>C (p.Gln1350Pro) n.4345A>C | |
2 | g.71611550A>G | CA347228558 | DYSF | c.1559A>G (p.Gln520Arg) c.776A>G (p.Gln259Arg) c.734A>G (p.Gln245Arg) c.4091A>G (p.Gln1364Arg) c.4145A>G (p.Gln1382Arg) c.4094A>G (p.Gln1365Arg) c.4142A>G (p.Gln1381Arg) c.4187A>G (p.Gln1396Arg) c.4052A>G (p.Gln1351Arg) c.4184A>G (p.Gln1395Arg) n.327A>G n.475A>G n.976A>G n.310A>G n.389A>G c.4049A>G (p.Gln1350Arg) n.4345A>G | |
2 | g.71611550A>T | CA347228559 | DYSF | c.1559A>T (p.Gln520Leu) c.776A>T (p.Gln259Leu) c.734A>T (p.Gln245Leu) c.4091A>T (p.Gln1364Leu) c.4145A>T (p.Gln1382Leu) c.4094A>T (p.Gln1365Leu) c.4142A>T (p.Gln1381Leu) c.4187A>T (p.Gln1396Leu) c.4052A>T (p.Gln1351Leu) c.4184A>T (p.Gln1395Leu) n.327A>T n.475A>T n.976A>T n.310A>T n.389A>T c.4049A>T (p.Gln1350Leu) n.4345A>T | |
2 | g.71611551G>A | CA426758672 | DYSF | c.1560G>A (p.Gln520=) c.777G>A (p.Gln259=) c.735G>A (p.Gln245=) c.4092G>A (p.Gln1364=) c.4146G>A (p.Gln1382=) c.4095G>A (p.Gln1365=) c.4143G>A (p.Gln1381=) c.4188G>A (p.Gln1396=) c.4053G>A (p.Gln1351=) c.4185G>A (p.Gln1395=) n.328G>A n.476G>A n.977G>A n.311G>A n.390G>A c.4050G>A (p.Gln1350=) n.4346G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71611551G>C | CA347228561 | DYSF | c.1560G>C (p.Gln520His) c.777G>C (p.Gln259His) c.735G>C (p.Gln245His) c.4092G>C (p.Gln1364His) c.4146G>C (p.Gln1382His) c.4095G>C (p.Gln1365His) c.4143G>C (p.Gln1381His) c.4188G>C (p.Gln1396His) c.4053G>C (p.Gln1351His) c.4185G>C (p.Gln1395His) n.328G>C n.476G>C n.977G>C n.311G>C n.390G>C c.4050G>C (p.Gln1350His) n.4346G>C | |
2 | g.71611551G= | CA1260124162 | DYSF | c.1560G= (p.Gln520=) c.777G= (p.Gln259=) c.735G= (p.Gln245=) c.4092G= (p.Gln1364=) c.4146G= (p.Gln1382=) c.4095G= (p.Gln1365=) c.4143G= (p.Gln1381=) c.4188G= (p.Gln1396=) c.4053G= (p.Gln1351=) c.4185G= (p.Gln1395=) n.328G= n.476G= n.977G= n.311G= n.390G= c.4050G= (p.Gln1350=) n.4346G= | |
2 | g.71611551G>T | CA347228562 | DYSF | c.1560G>T (p.Gln520His) c.777G>T (p.Gln259His) c.735G>T (p.Gln245His) c.4092G>T (p.Gln1364His) c.4146G>T (p.Gln1382His) c.4095G>T (p.Gln1365His) c.4143G>T (p.Gln1381His) c.4188G>T (p.Gln1396His) c.4053G>T (p.Gln1351His) c.4185G>T (p.Gln1395His) n.328G>T n.476G>T n.977G>T n.311G>T n.390G>T c.4050G>T (p.Gln1350His) n.4346G>T | |
2 | g.71611552A>C | CA347228563 | DYSF | c.1561A>C (p.Thr521Pro) c.778A>C (p.Thr260Pro) c.736A>C (p.Thr246Pro) c.4093A>C (p.Thr1365Pro) c.4147A>C (p.Thr1383Pro) c.4096A>C (p.Thr1366Pro) c.4144A>C (p.Thr1382Pro) c.4189A>C (p.Thr1397Pro) c.4054A>C (p.Thr1352Pro) c.4186A>C (p.Thr1396Pro) n.329A>C n.477A>C n.978A>C n.312A>C n.391A>C c.4051A>C (p.Thr1351Pro) n.4347A>C | |
2 | g.71611552A>G | CA347228564 | DYSF | c.1561A>G (p.Thr521Ala) c.778A>G (p.Thr260Ala) c.736A>G (p.Thr246Ala) c.4093A>G (p.Thr1365Ala) c.4147A>G (p.Thr1383Ala) c.4096A>G (p.Thr1366Ala) c.4144A>G (p.Thr1382Ala) c.4189A>G (p.Thr1397Ala) c.4054A>G (p.Thr1352Ala) c.4186A>G (p.Thr1396Ala) n.329A>G n.477A>G n.978A>G n.312A>G n.391A>G c.4051A>G (p.Thr1351Ala) n.4347A>G | gnomAD v4 |
2 | g.71611552A>T | CA347228565 | DYSF | c.1561A>T (p.Thr521Ser) c.778A>T (p.Thr260Ser) c.736A>T (p.Thr246Ser) c.4093A>T (p.Thr1365Ser) c.4147A>T (p.Thr1383Ser) c.4096A>T (p.Thr1366Ser) c.4144A>T (p.Thr1382Ser) c.4189A>T (p.Thr1397Ser) c.4054A>T (p.Thr1352Ser) c.4186A>T (p.Thr1396Ser) n.329A>T n.477A>T n.978A>T n.312A>T n.391A>T c.4051A>T (p.Thr1351Ser) n.4347A>T | |
2 | g.71611553C>A | CA347228566 | DYSF | c.1562C>A (p.Thr521Lys) c.779C>A (p.Thr260Lys) c.737C>A (p.Thr246Lys) c.4094C>A (p.Thr1365Lys) c.4148C>A (p.Thr1383Lys) c.4097C>A (p.Thr1366Lys) c.4145C>A (p.Thr1382Lys) c.4190C>A (p.Thr1397Lys) c.4055C>A (p.Thr1352Lys) c.4187C>A (p.Thr1396Lys) n.330C>A n.478C>A n.979C>A n.313C>A n.392C>A c.4052C>A (p.Thr1351Lys) n.4348C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71611553C= | CA1260124163 | DYSF | c.1562C= (p.Thr521=) c.779C= (p.Thr260=) c.737C= (p.Thr246=) c.4094C= (p.Thr1365=) c.4148C= (p.Thr1383=) c.4097C= (p.Thr1366=) c.4145C= (p.Thr1382=) c.4190C= (p.Thr1397=) c.4055C= (p.Thr1352=) c.4187C= (p.Thr1396=) n.330C= n.478C= n.979C= n.313C= n.392C= c.4052C= (p.Thr1351=) n.4348C= | |
2 | g.71611553C>G | CA347228567 | DYSF | c.1562C>G (p.Thr521Arg) c.779C>G (p.Thr260Arg) c.737C>G (p.Thr246Arg) c.4094C>G (p.Thr1365Arg) c.4148C>G (p.Thr1383Arg) c.4097C>G (p.Thr1366Arg) c.4145C>G (p.Thr1382Arg) c.4190C>G (p.Thr1397Arg) c.4055C>G (p.Thr1352Arg) c.4187C>G (p.Thr1396Arg) n.330C>G n.478C>G n.979C>G n.313C>G n.392C>G c.4052C>G (p.Thr1351Arg) n.4348C>G | dbSNP gnomAD v4 |
2 | g.71611553C>T | CA1706904 | DYSF | c.1562C>T (p.Thr521Met) c.779C>T (p.Thr260Met) c.737C>T (p.Thr246Met) c.4094C>T (p.Thr1365Met) c.4148C>T (p.Thr1383Met) c.4097C>T (p.Thr1366Met) c.4145C>T (p.Thr1382Met) c.4190C>T (p.Thr1397Met) c.4055C>T (p.Thr1352Met) c.4187C>T (p.Thr1396Met) n.330C>T n.478C>T n.979C>T n.313C>T n.392C>T c.4052C>T (p.Thr1351Met) n.4348C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611554G>A | CA1706905 | DYSF | c.1563G>A (p.Thr521=) c.780G>A (p.Thr260=) c.738G>A (p.Thr246=) c.4095G>A (p.Thr1365=) c.4149G>A (p.Thr1383=) c.4098G>A (p.Thr1366=) c.4146G>A (p.Thr1382=) c.4191G>A (p.Thr1397=) c.4056G>A (p.Thr1352=) c.4188G>A (p.Thr1396=) n.331G>A n.479G>A n.980G>A n.314G>A n.393G>A c.4053G>A (p.Thr1351=) n.4349G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611554G>C | CA426758678 | DYSF | c.1563G>C (p.Thr521=) c.780G>C (p.Thr260=) c.738G>C (p.Thr246=) c.4095G>C (p.Thr1365=) c.4149G>C (p.Thr1383=) c.4098G>C (p.Thr1366=) c.4146G>C (p.Thr1382=) c.4191G>C (p.Thr1397=) c.4056G>C (p.Thr1352=) c.4188G>C (p.Thr1396=) n.331G>C n.479G>C n.980G>C n.314G>C n.393G>C c.4053G>C (p.Thr1351=) n.4349G>C | gnomAD v4 |
2 | g.71611554G= | CA1260124164 | DYSF | c.1563G= (p.Thr521=) c.780G= (p.Thr260=) c.738G= (p.Thr246=) c.4095G= (p.Thr1365=) c.4149G= (p.Thr1383=) c.4098G= (p.Thr1366=) c.4146G= (p.Thr1382=) c.4191G= (p.Thr1397=) c.4056G= (p.Thr1352=) c.4188G= (p.Thr1396=) n.331G= n.479G= n.980G= n.314G= n.393G= c.4053G= (p.Thr1351=) n.4349G= | |
2 | g.71611554G>T | CA426758677 | DYSF | c.1563G>T (p.Thr521=) c.780G>T (p.Thr260=) c.738G>T (p.Thr246=) c.4095G>T (p.Thr1365=) c.4149G>T (p.Thr1383=) c.4098G>T (p.Thr1366=) c.4146G>T (p.Thr1382=) c.4191G>T (p.Thr1397=) c.4056G>T (p.Thr1352=) c.4188G>T (p.Thr1396=) n.331G>T n.479G>T n.980G>T n.314G>T n.393G>T c.4053G>T (p.Thr1351=) n.4349G>T | ClinVar |
2 | g.71611554_71611565del | CA2659553256 | DYSF | c.1563_1574del (p.Val522_Cys525del) c.780_791del (p.Val261_Cys264del) c.738_749del (p.Val247_Cys250del) c.4095_4106del (p.Val1366_Cys1369del) c.4149_4160del (p.Val1384_Cys1387del) c.4098_4109del (p.Val1367_Cys1370del) c.4146_4157del (p.Val1383_Cys1386del) c.4191_4202del (p.Val1398_Cys1401del) c.4056_4067del (p.Val1353_Cys1356del) c.4188_4199del (p.Val1397_Cys1400del) n.331_342del n.479_490del n.980_991del n.314_325del n.393_404del c.4053_4064del (p.Val1352_Cys1355del) n.4349_4360del | gnomAD v4 |
2 | g.71611555G>A | CA347228568 | DYSF | c.1564G>A (p.Val522Met) c.781G>A (p.Val261Met) c.739G>A (p.Val247Met) c.4096G>A (p.Val1366Met) c.4150G>A (p.Val1384Met) c.4099G>A (p.Val1367Met) c.4147G>A (p.Val1383Met) c.4192G>A (p.Val1398Met) c.4057G>A (p.Val1353Met) c.4189G>A (p.Val1397Met) n.332G>A n.480G>A n.981G>A n.315G>A n.394G>A c.4054G>A (p.Val1352Met) n.4350G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71611555G>C | CA347228569 | DYSF | c.1564G>C (p.Val522Leu) c.781G>C (p.Val261Leu) c.739G>C (p.Val247Leu) c.4096G>C (p.Val1366Leu) c.4150G>C (p.Val1384Leu) c.4099G>C (p.Val1367Leu) c.4147G>C (p.Val1383Leu) c.4192G>C (p.Val1398Leu) c.4057G>C (p.Val1353Leu) c.4189G>C (p.Val1397Leu) n.332G>C n.480G>C n.981G>C n.315G>C n.394G>C c.4054G>C (p.Val1352Leu) n.4350G>C | |
2 | g.71611555G= | CA1260124165 | DYSF | c.1564G= (p.Val522=) c.781G= (p.Val261=) c.739G= (p.Val247=) c.4096G= (p.Val1366=) c.4150G= (p.Val1384=) c.4099G= (p.Val1367=) c.4147G= (p.Val1383=) c.4192G= (p.Val1398=) c.4057G= (p.Val1353=) c.4189G= (p.Val1397=) n.332G= n.480G= n.981G= n.315G= n.394G= c.4054G= (p.Val1352=) n.4350G= | |
2 | g.71611555G>T | CA347228570 | DYSF | c.1564G>T (p.Val522Leu) c.781G>T (p.Val261Leu) c.739G>T (p.Val247Leu) c.4096G>T (p.Val1366Leu) c.4150G>T (p.Val1384Leu) c.4099G>T (p.Val1367Leu) c.4147G>T (p.Val1383Leu) c.4192G>T (p.Val1398Leu) c.4057G>T (p.Val1353Leu) c.4189G>T (p.Val1397Leu) n.332G>T n.480G>T n.981G>T n.315G>T n.394G>T c.4054G>T (p.Val1352Leu) n.4350G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611556T>A | CA347228571 | DYSF | c.1565T>A (p.Val522Glu) c.782T>A (p.Val261Glu) c.740T>A (p.Val247Glu) c.4097T>A (p.Val1366Glu) c.4151T>A (p.Val1384Glu) c.4100T>A (p.Val1367Glu) c.4148T>A (p.Val1383Glu) c.4193T>A (p.Val1398Glu) c.4058T>A (p.Val1353Glu) c.4190T>A (p.Val1397Glu) n.333T>A n.481T>A n.982T>A n.316T>A n.395T>A c.4055T>A (p.Val1352Glu) n.4351T>A | dbSNP gnomAD v4 |
2 | g.71611556T>C | CA1706906 | DYSF | c.1565T>C (p.Val522Ala) c.782T>C (p.Val261Ala) c.740T>C (p.Val247Ala) c.4097T>C (p.Val1366Ala) c.4151T>C (p.Val1384Ala) c.4100T>C (p.Val1367Ala) c.4148T>C (p.Val1383Ala) c.4193T>C (p.Val1398Ala) c.4058T>C (p.Val1353Ala) c.4190T>C (p.Val1397Ala) n.333T>C n.481T>C n.982T>C n.316T>C n.395T>C c.4055T>C (p.Val1352Ala) n.4351T>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.71611556T>G | CA347228572 | DYSF | c.1565T>G (p.Val522Gly) c.782T>G (p.Val261Gly) c.740T>G (p.Val247Gly) c.4097T>G (p.Val1366Gly) c.4151T>G (p.Val1384Gly) c.4100T>G (p.Val1367Gly) c.4148T>G (p.Val1383Gly) c.4193T>G (p.Val1398Gly) c.4058T>G (p.Val1353Gly) c.4190T>G (p.Val1397Gly) n.333T>G n.481T>G n.982T>G n.316T>G n.395T>G c.4055T>G (p.Val1352Gly) n.4351T>G | |
2 | g.71611556T= | CA1260124166 | DYSF | c.1565T= (p.Val522=) c.782T= (p.Val261=) c.740T= (p.Val247=) c.4097T= (p.Val1366=) c.4151T= (p.Val1384=) c.4100T= (p.Val1367=) c.4148T= (p.Val1383=) c.4193T= (p.Val1398=) c.4058T= (p.Val1353=) c.4190T= (p.Val1397=) n.333T= n.481T= n.982T= n.316T= n.395T= c.4055T= (p.Val1352=) n.4351T= | |
2 | g.71611557G>A | CA1706907 | DYSF | c.1566G>A (p.Val522=) c.783G>A (p.Val261=) c.741G>A (p.Val247=) c.4098G>A (p.Val1366=) c.4152G>A (p.Val1384=) c.4101G>A (p.Val1367=) c.4149G>A (p.Val1383=) c.4194G>A (p.Val1398=) c.4059G>A (p.Val1353=) c.4191G>A (p.Val1397=) n.334G>A n.482G>A n.983G>A n.317G>A n.396G>A c.4056G>A (p.Val1352=) n.4352G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611557G>C | CA426758687 | DYSF | c.1566G>C (p.Val522=) c.783G>C (p.Val261=) c.741G>C (p.Val247=) c.4098G>C (p.Val1366=) c.4152G>C (p.Val1384=) c.4101G>C (p.Val1367=) c.4149G>C (p.Val1383=) c.4194G>C (p.Val1398=) c.4059G>C (p.Val1353=) c.4191G>C (p.Val1397=) n.334G>C n.482G>C n.983G>C n.317G>C n.396G>C c.4056G>C (p.Val1352=) n.4352G>C | ClinVar dbSNP |
2 | g.71611557G= | CA1260124167 | DYSF | c.1566G= (p.Val522=) c.783G= (p.Val261=) c.741G= (p.Val247=) c.4098G= (p.Val1366=) c.4152G= (p.Val1384=) c.4101G= (p.Val1367=) c.4149G= (p.Val1383=) c.4194G= (p.Val1398=) c.4059G= (p.Val1353=) c.4191G= (p.Val1397=) n.334G= n.482G= n.983G= n.317G= n.396G= c.4056G= (p.Val1352=) n.4352G= | |
2 | g.71611557G>T | CA426758689 | DYSF | c.1566G>T (p.Val522=) c.783G>T (p.Val261=) c.741G>T (p.Val247=) c.4098G>T (p.Val1366=) c.4152G>T (p.Val1384=) c.4101G>T (p.Val1367=) c.4149G>T (p.Val1383=) c.4194G>T (p.Val1398=) c.4059G>T (p.Val1353=) c.4191G>T (p.Val1397=) n.334G>T n.482G>T n.983G>T n.317G>T n.396G>T c.4056G>T (p.Val1352=) n.4352G>T | |
2 | g.71611558C>A | CA347228573 | DYSF | c.1567C>A (p.Gln523Lys) c.784C>A (p.Gln262Lys) c.742C>A (p.Gln248Lys) c.4099C>A (p.Gln1367Lys) c.4153C>A (p.Gln1385Lys) c.4102C>A (p.Gln1368Lys) c.4150C>A (p.Gln1384Lys) c.4195C>A (p.Gln1399Lys) c.4060C>A (p.Gln1354Lys) c.4192C>A (p.Gln1398Lys) n.335C>A n.483C>A n.984C>A n.318C>A n.397C>A c.4057C>A (p.Gln1353Lys) n.4353C>A | |
2 | g.71611558C= | CA1260124168 | DYSF | c.1567C= (p.Gln523=) c.784C= (p.Gln262=) c.742C= (p.Gln248=) c.4099C= (p.Gln1367=) c.4153C= (p.Gln1385=) c.4102C= (p.Gln1368=) c.4150C= (p.Gln1384=) c.4195C= (p.Gln1399=) c.4060C= (p.Gln1354=) c.4192C= (p.Gln1398=) n.335C= n.483C= n.984C= n.318C= n.397C= c.4057C= (p.Gln1353=) n.4353C= | |
2 | g.71611558C>G | CA347228574 | DYSF | c.1567C>G (p.Gln523Glu) c.784C>G (p.Gln262Glu) c.742C>G (p.Gln248Glu) c.4099C>G (p.Gln1367Glu) c.4153C>G (p.Gln1385Glu) c.4102C>G (p.Gln1368Glu) c.4150C>G (p.Gln1384Glu) c.4195C>G (p.Gln1399Glu) c.4060C>G (p.Gln1354Glu) c.4192C>G (p.Gln1398Glu) n.335C>G n.483C>G n.984C>G n.318C>G n.397C>G c.4057C>G (p.Gln1353Glu) n.4353C>G | |
2 | g.71611558C>T | CA347228576 | DYSF | c.1567C>T (p.Gln523Ter) c.784C>T (p.Gln262Ter) c.742C>T (p.Gln248Ter) c.4099C>T (p.Gln1367Ter) c.4153C>T (p.Gln1385Ter) c.4102C>T (p.Gln1368Ter) c.4150C>T (p.Gln1384Ter) c.4195C>T (p.Gln1399Ter) c.4060C>T (p.Gln1354Ter) c.4192C>T (p.Gln1398Ter) n.335C>T n.483C>T n.984C>T n.318C>T n.397C>T c.4057C>T (p.Gln1353Ter) n.4353C>T | ClinVar dbSNP |
2 | g.71611559A= | CA1260124169 | DYSF | c.1568A= (p.Gln523=) c.785A= (p.Gln262=) c.743A= (p.Gln248=) c.4100A= (p.Gln1367=) c.4154A= (p.Gln1385=) c.4103A= (p.Gln1368=) c.4151A= (p.Gln1384=) c.4196A= (p.Gln1399=) c.4061A= (p.Gln1354=) c.4193A= (p.Gln1398=) n.336A= n.484A= n.985A= n.319A= n.398A= c.4058A= (p.Gln1353=) n.4354A= | |
2 | g.71611559A>C | CA347228579 | DYSF | c.1568A>C (p.Gln523Pro) c.785A>C (p.Gln262Pro) c.743A>C (p.Gln248Pro) c.4100A>C (p.Gln1367Pro) c.4154A>C (p.Gln1385Pro) c.4103A>C (p.Gln1368Pro) c.4151A>C (p.Gln1384Pro) c.4196A>C (p.Gln1399Pro) c.4061A>C (p.Gln1354Pro) c.4193A>C (p.Gln1398Pro) n.336A>C n.484A>C n.985A>C n.319A>C n.398A>C c.4058A>C (p.Gln1353Pro) n.4354A>C | |
2 | g.71611559A>G | CA347228583 | DYSF | c.1568A>G (p.Gln523Arg) c.785A>G (p.Gln262Arg) c.743A>G (p.Gln248Arg) c.4100A>G (p.Gln1367Arg) c.4154A>G (p.Gln1385Arg) c.4103A>G (p.Gln1368Arg) c.4151A>G (p.Gln1384Arg) c.4196A>G (p.Gln1399Arg) c.4061A>G (p.Gln1354Arg) c.4193A>G (p.Gln1398Arg) n.336A>G n.484A>G n.985A>G n.319A>G n.398A>G c.4058A>G (p.Gln1353Arg) n.4354A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71611559A>T | CA347228581 | DYSF | c.1568A>T (p.Gln523Leu) c.785A>T (p.Gln262Leu) c.743A>T (p.Gln248Leu) c.4100A>T (p.Gln1367Leu) c.4154A>T (p.Gln1385Leu) c.4103A>T (p.Gln1368Leu) c.4151A>T (p.Gln1384Leu) c.4196A>T (p.Gln1399Leu) c.4061A>T (p.Gln1354Leu) c.4193A>T (p.Gln1398Leu) n.336A>T n.484A>T n.985A>T n.319A>T n.398A>T c.4058A>T (p.Gln1353Leu) n.4354A>T | |
2 | g.71611560G>A | CA1706908 | DYSF | c.1569G>A (p.Gln523=) c.786G>A (p.Gln262=) c.744G>A (p.Gln248=) c.4101G>A (p.Gln1367=) c.4155G>A (p.Gln1385=) c.4104G>A (p.Gln1368=) c.4152G>A (p.Gln1384=) c.4197G>A (p.Gln1399=) c.4062G>A (p.Gln1354=) c.4194G>A (p.Gln1398=) n.337G>A n.485G>A n.986G>A n.320G>A n.399G>A c.4059G>A (p.Gln1353=) n.4355G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611560G>C | CA347228588 | DYSF | c.1569G>C (p.Gln523His) c.786G>C (p.Gln262His) c.744G>C (p.Gln248His) c.4101G>C (p.Gln1367His) c.4155G>C (p.Gln1385His) c.4104G>C (p.Gln1368His) c.4152G>C (p.Gln1384His) c.4197G>C (p.Gln1399His) c.4062G>C (p.Gln1354His) c.4194G>C (p.Gln1398His) n.337G>C n.485G>C n.986G>C n.320G>C n.399G>C c.4059G>C (p.Gln1353His) n.4355G>C | |
2 | g.71611560G= | CA1260124170 | DYSF | c.1569G= (p.Gln523=) c.786G= (p.Gln262=) c.744G= (p.Gln248=) c.4101G= (p.Gln1367=) c.4155G= (p.Gln1385=) c.4104G= (p.Gln1368=) c.4152G= (p.Gln1384=) c.4197G= (p.Gln1399=) c.4062G= (p.Gln1354=) c.4194G= (p.Gln1398=) n.337G= n.485G= n.986G= n.320G= n.399G= c.4059G= (p.Gln1353=) n.4355G= | |
2 | g.71611560G>T | CA347228591 | DYSF | c.1569G>T (p.Gln523His) c.786G>T (p.Gln262His) c.744G>T (p.Gln248His) c.4101G>T (p.Gln1367His) c.4155G>T (p.Gln1385His) c.4104G>T (p.Gln1368His) c.4152G>T (p.Gln1384His) c.4197G>T (p.Gln1399His) c.4062G>T (p.Gln1354His) c.4194G>T (p.Gln1398His) n.337G>T n.485G>T n.986G>T n.320G>T n.399G>T c.4059G>T (p.Gln1353His) n.4355G>T | gnomAD v4 |
2 | g.71611563_71611569del | CA2586969509 | DYSF | c.1572_1578del (p.Cys525SerfsTer19) c.789_795del (p.Cys264SerfsTer19) c.747_753del (p.Cys250SerfsTer19) c.4104_4110del (p.Cys1369SerfsTer19) c.4158_4164del (p.Cys1387SerfsTer19) c.4107_4113del (p.Cys1370SerfsTer19) c.4155_4161del (p.Cys1386SerfsTer19) c.4200_4206del (p.Cys1401SerfsTer19) c.4065_4071del (p.Cys1356SerfsTer19) c.4197_4203del (p.Cys1400SerfsTer19) n.340_346del n.488_494del n.989_995del n.323_329del n.402_408del c.4062_4068del (p.Cys1355SerfsTer19) n.4358_4364del | |
2 | g.71611561T>A | CA347228594 | DYSF | c.1570T>A (p.Ser524Thr) c.787T>A (p.Ser263Thr) c.745T>A (p.Ser249Thr) c.4102T>A (p.Ser1368Thr) c.4156T>A (p.Ser1386Thr) c.4105T>A (p.Ser1369Thr) c.4153T>A (p.Ser1385Thr) c.4198T>A (p.Ser1400Thr) c.4063T>A (p.Ser1355Thr) c.4195T>A (p.Ser1399Thr) n.338T>A n.486T>A n.987T>A n.321T>A n.400T>A c.4060T>A (p.Ser1354Thr) n.4356T>A | |
2 | g.71611561T>C | CA347228596 | DYSF | c.1570T>C (p.Ser524Pro) c.787T>C (p.Ser263Pro) c.745T>C (p.Ser249Pro) c.4102T>C (p.Ser1368Pro) c.4156T>C (p.Ser1386Pro) c.4105T>C (p.Ser1369Pro) c.4153T>C (p.Ser1385Pro) c.4198T>C (p.Ser1400Pro) c.4063T>C (p.Ser1355Pro) c.4195T>C (p.Ser1399Pro) n.338T>C n.486T>C n.987T>C n.321T>C n.400T>C c.4060T>C (p.Ser1354Pro) n.4356T>C | |
2 | g.71611561T>G | CA347228598 | DYSF | c.1570T>G (p.Ser524Ala) c.787T>G (p.Ser263Ala) c.745T>G (p.Ser249Ala) c.4102T>G (p.Ser1368Ala) c.4156T>G (p.Ser1386Ala) c.4105T>G (p.Ser1369Ala) c.4153T>G (p.Ser1385Ala) c.4198T>G (p.Ser1400Ala) c.4063T>G (p.Ser1355Ala) c.4195T>G (p.Ser1399Ala) n.338T>G n.486T>G n.987T>G n.321T>G n.400T>G c.4060T>G (p.Ser1354Ala) n.4356T>G | |
2 | g.71611561T= | CA1260124171 | DYSF | c.1570T= (p.Ser524=) c.787T= (p.Ser263=) c.745T= (p.Ser249=) c.4102T= (p.Ser1368=) c.4156T= (p.Ser1386=) c.4105T= (p.Ser1369=) c.4153T= (p.Ser1385=) c.4198T= (p.Ser1400=) c.4063T= (p.Ser1355=) c.4195T= (p.Ser1399=) n.338T= n.486T= n.987T= n.321T= n.400T= c.4060T= (p.Ser1354=) n.4356T= | |
2 | g.71611562C>A | CA347228601 | DYSF | c.1571C>A (p.Ser524Tyr) c.788C>A (p.Ser263Tyr) c.746C>A (p.Ser249Tyr) c.4103C>A (p.Ser1368Tyr) c.4157C>A (p.Ser1386Tyr) c.4106C>A (p.Ser1369Tyr) c.4154C>A (p.Ser1385Tyr) c.4199C>A (p.Ser1400Tyr) c.4064C>A (p.Ser1355Tyr) c.4196C>A (p.Ser1399Tyr) n.339C>A n.487C>A n.988C>A n.322C>A n.401C>A c.4061C>A (p.Ser1354Tyr) n.4357C>A | |
2 | g.71611562C= | CA1260124173 | DYSF | c.1571C= (p.Ser524=) c.788C= (p.Ser263=) c.746C= (p.Ser249=) c.4103C= (p.Ser1368=) c.4157C= (p.Ser1386=) c.4106C= (p.Ser1369=) c.4154C= (p.Ser1385=) c.4199C= (p.Ser1400=) c.4064C= (p.Ser1355=) c.4196C= (p.Ser1399=) n.339C= n.487C= n.988C= n.322C= n.401C= c.4061C= (p.Ser1354=) n.4357C= | |
2 | g.71611562C>G | CA347228603 | DYSF | c.1571C>G (p.Ser524Cys) c.788C>G (p.Ser263Cys) c.746C>G (p.Ser249Cys) c.4103C>G (p.Ser1368Cys) c.4157C>G (p.Ser1386Cys) c.4106C>G (p.Ser1369Cys) c.4154C>G (p.Ser1385Cys) c.4199C>G (p.Ser1400Cys) c.4064C>G (p.Ser1355Cys) c.4196C>G (p.Ser1399Cys) n.339C>G n.487C>G n.988C>G n.322C>G n.401C>G c.4061C>G (p.Ser1354Cys) n.4357C>G | |
2 | g.71611562C>T | CA347228604 | DYSF | c.1571C>T (p.Ser524Phe) c.788C>T (p.Ser263Phe) c.746C>T (p.Ser249Phe) c.4103C>T (p.Ser1368Phe) c.4157C>T (p.Ser1386Phe) c.4106C>T (p.Ser1369Phe) c.4154C>T (p.Ser1385Phe) c.4199C>T (p.Ser1400Phe) c.4064C>T (p.Ser1355Phe) c.4196C>T (p.Ser1399Phe) n.339C>T n.487C>T n.988C>T n.322C>T n.401C>T c.4061C>T (p.Ser1354Phe) n.4357C>T | dbSNP |
2 | g.71611562_71611565dup | CA1260124172 | DYSF | c.1571_1574dup (p.Val526LeufsTer13) c.788_791dup (p.Val265LeufsTer13) c.746_749dup (p.Val251LeufsTer13) c.4103_4106dup (p.Val1370LeufsTer13) c.4157_4160dup (p.Val1388LeufsTer13) c.4106_4109dup (p.Val1371LeufsTer13) c.4154_4157dup (p.Val1387LeufsTer13) c.4199_4202dup (p.Val1402LeufsTer13) c.4064_4067dup (p.Val1357LeufsTer13) c.4196_4199dup (p.Val1401LeufsTer13) n.339_342dup n.487_490dup n.988_991dup n.322_325dup n.401_404dup c.4061_4064dup (p.Val1356LeufsTer13) n.4357_4360dup | dbSNP |
2 | g.71611563C>A | CA426758699 | DYSF | c.1572C>A (p.Ser524=) c.789C>A (p.Ser263=) c.747C>A (p.Ser249=) c.4104C>A (p.Ser1368=) c.4158C>A (p.Ser1386=) c.4107C>A (p.Ser1369=) c.4155C>A (p.Ser1385=) c.4200C>A (p.Ser1400=) c.4065C>A (p.Ser1355=) c.4197C>A (p.Ser1399=) n.340C>A n.488C>A n.989C>A n.323C>A n.402C>A c.4062C>A (p.Ser1354=) n.4358C>A | |
2 | g.71611563C>G | CA426758700 | DYSF | c.1572C>G (p.Ser524=) c.789C>G (p.Ser263=) c.747C>G (p.Ser249=) c.4104C>G (p.Ser1368=) c.4158C>G (p.Ser1386=) c.4107C>G (p.Ser1369=) c.4155C>G (p.Ser1385=) c.4200C>G (p.Ser1400=) c.4065C>G (p.Ser1355=) c.4197C>G (p.Ser1399=) n.340C>G n.488C>G n.989C>G n.323C>G n.402C>G c.4062C>G (p.Ser1354=) n.4358C>G | |
2 | g.71611563C>T | CA426758703 | DYSF | c.1572C>T (p.Ser524=) c.789C>T (p.Ser263=) c.747C>T (p.Ser249=) c.4104C>T (p.Ser1368=) c.4158C>T (p.Ser1386=) c.4107C>T (p.Ser1369=) c.4155C>T (p.Ser1385=) c.4200C>T (p.Ser1400=) c.4065C>T (p.Ser1355=) c.4197C>T (p.Ser1399=) n.340C>T n.488C>T n.989C>T n.323C>T n.402C>T c.4062C>T (p.Ser1354=) n.4358C>T | |
2 | g.71611564T>A | CA347228607 | DYSF | c.1573T>A (p.Cys525Ser) c.790T>A (p.Cys264Ser) c.748T>A (p.Cys250Ser) c.4105T>A (p.Cys1369Ser) c.4159T>A (p.Cys1387Ser) c.4108T>A (p.Cys1370Ser) c.4156T>A (p.Cys1386Ser) c.4201T>A (p.Cys1401Ser) c.4066T>A (p.Cys1356Ser) c.4198T>A (p.Cys1400Ser) n.341T>A n.489T>A n.990T>A n.324T>A n.403T>A c.4063T>A (p.Cys1355Ser) n.4359T>A | |
2 | g.71611564T>C | CA347228609 | DYSF | c.1573T>C (p.Cys525Arg) c.790T>C (p.Cys264Arg) c.748T>C (p.Cys250Arg) c.4105T>C (p.Cys1369Arg) c.4159T>C (p.Cys1387Arg) c.4108T>C (p.Cys1370Arg) c.4156T>C (p.Cys1386Arg) c.4201T>C (p.Cys1401Arg) c.4066T>C (p.Cys1356Arg) c.4198T>C (p.Cys1400Arg) n.341T>C n.489T>C n.990T>C n.324T>C n.403T>C c.4063T>C (p.Cys1355Arg) n.4359T>C | |
2 | g.71611564T>G | CA347228611 | DYSF | c.1573T>G (p.Cys525Gly) c.790T>G (p.Cys264Gly) c.748T>G (p.Cys250Gly) c.4105T>G (p.Cys1369Gly) c.4159T>G (p.Cys1387Gly) c.4108T>G (p.Cys1370Gly) c.4156T>G (p.Cys1386Gly) c.4201T>G (p.Cys1401Gly) c.4066T>G (p.Cys1356Gly) c.4198T>G (p.Cys1400Gly) n.341T>G n.489T>G n.990T>G n.324T>G n.403T>G c.4063T>G (p.Cys1355Gly) n.4359T>G | |
2 | g.71611565G>A | CA347228620 | DYSF | c.1574G>A (p.Cys525Tyr) c.791G>A (p.Cys264Tyr) c.749G>A (p.Cys250Tyr) c.4106G>A (p.Cys1369Tyr) c.4160G>A (p.Cys1387Tyr) c.4109G>A (p.Cys1370Tyr) c.4157G>A (p.Cys1386Tyr) c.4202G>A (p.Cys1401Tyr) c.4067G>A (p.Cys1356Tyr) c.4199G>A (p.Cys1400Tyr) n.342G>A n.490G>A n.991G>A n.325G>A n.404G>A c.4064G>A (p.Cys1355Tyr) n.4360G>A | gnomAD v4 |
2 | g.71611565G>C | CA347228614 | DYSF | c.1574G>C (p.Cys525Ser) c.791G>C (p.Cys264Ser) c.749G>C (p.Cys250Ser) c.4106G>C (p.Cys1369Ser) c.4160G>C (p.Cys1387Ser) c.4109G>C (p.Cys1370Ser) c.4157G>C (p.Cys1386Ser) c.4202G>C (p.Cys1401Ser) c.4067G>C (p.Cys1356Ser) c.4199G>C (p.Cys1400Ser) n.342G>C n.490G>C n.991G>C n.325G>C n.404G>C c.4064G>C (p.Cys1355Ser) n.4360G>C | |
2 | g.71611565G>T | CA347228617 | DYSF | c.1574G>T (p.Cys525Phe) c.791G>T (p.Cys264Phe) c.749G>T (p.Cys250Phe) c.4106G>T (p.Cys1369Phe) c.4160G>T (p.Cys1387Phe) c.4109G>T (p.Cys1370Phe) c.4157G>T (p.Cys1386Phe) c.4202G>T (p.Cys1401Phe) c.4067G>T (p.Cys1356Phe) c.4199G>T (p.Cys1400Phe) n.342G>T n.490G>T n.991G>T n.325G>T n.404G>T c.4064G>T (p.Cys1355Phe) n.4360G>T | |
2 | g.71611566T>A | CA347228623 | DYSF | c.1575T>A (p.Cys525Ter) c.792T>A (p.Cys264Ter) c.750T>A (p.Cys250Ter) c.4107T>A (p.Cys1369Ter) c.4161T>A (p.Cys1387Ter) c.4110T>A (p.Cys1370Ter) c.4158T>A (p.Cys1386Ter) c.4203T>A (p.Cys1401Ter) c.4068T>A (p.Cys1356Ter) c.4200T>A (p.Cys1400Ter) n.343T>A n.491T>A n.992T>A n.326T>A n.405T>A c.4065T>A (p.Cys1355Ter) n.4361T>A | |
2 | g.71611566T>C | CA426758710 | DYSF | c.1575T>C (p.Cys525=) c.792T>C (p.Cys264=) c.750T>C (p.Cys250=) c.4107T>C (p.Cys1369=) c.4161T>C (p.Cys1387=) c.4110T>C (p.Cys1370=) c.4158T>C (p.Cys1386=) c.4203T>C (p.Cys1401=) c.4068T>C (p.Cys1356=) c.4200T>C (p.Cys1400=) n.343T>C n.491T>C n.992T>C n.326T>C n.405T>C c.4065T>C (p.Cys1355=) n.4361T>C | |
2 | g.71611566T>G | CA347228625 | DYSF | c.1575T>G (p.Cys525Trp) c.792T>G (p.Cys264Trp) c.750T>G (p.Cys250Trp) c.4107T>G (p.Cys1369Trp) c.4161T>G (p.Cys1387Trp) c.4110T>G (p.Cys1370Trp) c.4158T>G (p.Cys1386Trp) c.4203T>G (p.Cys1401Trp) c.4068T>G (p.Cys1356Trp) c.4200T>G (p.Cys1400Trp) n.343T>G n.491T>G n.992T>G n.326T>G n.405T>G c.4065T>G (p.Cys1355Trp) n.4361T>G | |
2 | g.71611567G>A | CA347228628 | DYSF | c.1576G>A (p.Val526Ile) c.793G>A (p.Val265Ile) c.751G>A (p.Val251Ile) c.4108G>A (p.Val1370Ile) c.4162G>A (p.Val1388Ile) c.4111G>A (p.Val1371Ile) c.4159G>A (p.Val1387Ile) c.4204G>A (p.Val1402Ile) c.4069G>A (p.Val1357Ile) c.4201G>A (p.Val1401Ile) n.344G>A n.492G>A n.993G>A n.327G>A n.406G>A c.4066G>A (p.Val1356Ile) n.4362G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611567G>C | CA347228630 | DYSF | c.1576G>C (p.Val526Leu) c.793G>C (p.Val265Leu) c.751G>C (p.Val251Leu) c.4108G>C (p.Val1370Leu) c.4162G>C (p.Val1388Leu) c.4111G>C (p.Val1371Leu) c.4159G>C (p.Val1387Leu) c.4204G>C (p.Val1402Leu) c.4069G>C (p.Val1357Leu) c.4201G>C (p.Val1401Leu) n.344G>C n.492G>C n.993G>C n.327G>C n.406G>C c.4066G>C (p.Val1356Leu) n.4362G>C | |
2 | g.71611567G= | CA1260124174 | DYSF | c.1576G= (p.Val526=) c.793G= (p.Val265=) c.751G= (p.Val251=) c.4108G= (p.Val1370=) c.4162G= (p.Val1388=) c.4111G= (p.Val1371=) c.4159G= (p.Val1387=) c.4204G= (p.Val1402=) c.4069G= (p.Val1357=) c.4201G= (p.Val1401=) n.344G= n.492G= n.993G= n.327G= n.406G= c.4066G= (p.Val1356=) n.4362G= | |
2 | g.71611567G>T | CA347228631 | DYSF | c.1576G>T (p.Val526Phe) c.793G>T (p.Val265Phe) c.751G>T (p.Val251Phe) c.4108G>T (p.Val1370Phe) c.4162G>T (p.Val1388Phe) c.4111G>T (p.Val1371Phe) c.4159G>T (p.Val1387Phe) c.4204G>T (p.Val1402Phe) c.4069G>T (p.Val1357Phe) c.4201G>T (p.Val1401Phe) n.344G>T n.492G>T n.993G>T n.327G>T n.406G>T c.4066G>T (p.Val1356Phe) n.4362G>T | |
2 | g.71611568T>A | CA347228635 | DYSF | c.1577T>A (p.Val526Asp) c.794T>A (p.Val265Asp) c.752T>A (p.Val251Asp) c.4109T>A (p.Val1370Asp) c.4163T>A (p.Val1388Asp) c.4112T>A (p.Val1371Asp) c.4160T>A (p.Val1387Asp) c.4205T>A (p.Val1402Asp) c.4070T>A (p.Val1357Asp) c.4202T>A (p.Val1401Asp) n.345T>A n.493T>A n.994T>A n.328T>A n.407T>A c.4067T>A (p.Val1356Asp) n.4363T>A | |
2 | g.71611568T>C | CA347228636 | DYSF | c.1577T>C (p.Val526Ala) c.794T>C (p.Val265Ala) c.752T>C (p.Val251Ala) c.4109T>C (p.Val1370Ala) c.4163T>C (p.Val1388Ala) c.4112T>C (p.Val1371Ala) c.4160T>C (p.Val1387Ala) c.4205T>C (p.Val1402Ala) c.4070T>C (p.Val1357Ala) c.4202T>C (p.Val1401Ala) n.345T>C n.493T>C n.994T>C n.328T>C n.407T>C c.4067T>C (p.Val1356Ala) n.4363T>C | gnomAD v4 |
2 | g.71611568T>G | CA347228638 | DYSF | c.1577T>G (p.Val526Gly) c.794T>G (p.Val265Gly) c.752T>G (p.Val251Gly) c.4109T>G (p.Val1370Gly) c.4163T>G (p.Val1388Gly) c.4112T>G (p.Val1371Gly) c.4160T>G (p.Val1387Gly) c.4205T>G (p.Val1402Gly) c.4070T>G (p.Val1357Gly) c.4202T>G (p.Val1401Gly) n.345T>G n.493T>G n.994T>G n.328T>G n.407T>G c.4067T>G (p.Val1356Gly) n.4363T>G | |
2 | g.71611569C>A | CA426758716 | DYSF | c.1578C>A (p.Val526=) c.795C>A (p.Val265=) c.753C>A (p.Val251=) c.4110C>A (p.Val1370=) c.4164C>A (p.Val1388=) c.4113C>A (p.Val1371=) c.4161C>A (p.Val1387=) c.4206C>A (p.Val1402=) c.4071C>A (p.Val1357=) c.4203C>A (p.Val1401=) n.346C>A n.494C>A n.995C>A n.329C>A n.408C>A c.4068C>A (p.Val1356=) n.4364C>A | |
2 | g.71611569C>G | CA426758717 | DYSF | c.1578C>G (p.Val526=) c.795C>G (p.Val265=) c.753C>G (p.Val251=) c.4110C>G (p.Val1370=) c.4164C>G (p.Val1388=) c.4113C>G (p.Val1371=) c.4161C>G (p.Val1387=) c.4206C>G (p.Val1402=) c.4071C>G (p.Val1357=) c.4203C>G (p.Val1401=) n.346C>G n.494C>G n.995C>G n.329C>G n.408C>G c.4068C>G (p.Val1356=) n.4364C>G | ClinVar dbSNP gnomAD v4 |
2 | g.71611569C>T | CA426758719 | DYSF | c.1578C>T (p.Val526=) c.795C>T (p.Val265=) c.753C>T (p.Val251=) c.4110C>T (p.Val1370=) c.4164C>T (p.Val1388=) c.4113C>T (p.Val1371=) c.4161C>T (p.Val1387=) c.4206C>T (p.Val1402=) c.4071C>T (p.Val1357=) c.4203C>T (p.Val1401=) n.346C>T n.494C>T n.995C>T n.329C>T n.408C>T c.4068C>T (p.Val1356=) n.4364C>T | |
2 | g.71611570A>C | CA347228640 | DYSF | c.1579A>C (p.Ile527Leu) c.796A>C (p.Ile266Leu) c.754A>C (p.Ile252Leu) c.4111A>C (p.Ile1371Leu) c.4165A>C (p.Ile1389Leu) c.4114A>C (p.Ile1372Leu) c.4162A>C (p.Ile1388Leu) c.4207A>C (p.Ile1403Leu) c.4072A>C (p.Ile1358Leu) c.4204A>C (p.Ile1402Leu) n.347A>C n.495A>C n.996A>C n.330A>C n.409A>C c.4069A>C (p.Ile1357Leu) n.4365A>C | |
2 | g.71611570A>G | CA347228642 | DYSF | c.1579A>G (p.Ile527Val) c.796A>G (p.Ile266Val) c.754A>G (p.Ile252Val) c.4111A>G (p.Ile1371Val) c.4165A>G (p.Ile1389Val) c.4114A>G (p.Ile1372Val) c.4162A>G (p.Ile1388Val) c.4207A>G (p.Ile1403Val) c.4072A>G (p.Ile1358Val) c.4204A>G (p.Ile1402Val) n.347A>G n.495A>G n.996A>G n.330A>G n.409A>G c.4069A>G (p.Ile1357Val) n.4365A>G | |
2 | g.71611570A>T | CA347228644 | DYSF | c.1579A>T (p.Ile527Phe) c.796A>T (p.Ile266Phe) c.754A>T (p.Ile252Phe) c.4111A>T (p.Ile1371Phe) c.4165A>T (p.Ile1389Phe) c.4114A>T (p.Ile1372Phe) c.4162A>T (p.Ile1388Phe) c.4207A>T (p.Ile1403Phe) c.4072A>T (p.Ile1358Phe) c.4204A>T (p.Ile1402Phe) n.347A>T n.495A>T n.996A>T n.330A>T n.409A>T c.4069A>T (p.Ile1357Phe) n.4365A>T | |
2 | g.71611571T>A | CA347228650 | DYSF | c.1580T>A (p.Ile527Asn) c.797T>A (p.Ile266Asn) c.755T>A (p.Ile252Asn) c.4112T>A (p.Ile1371Asn) c.4166T>A (p.Ile1389Asn) c.4115T>A (p.Ile1372Asn) c.4163T>A (p.Ile1388Asn) c.4208T>A (p.Ile1403Asn) c.4073T>A (p.Ile1358Asn) c.4205T>A (p.Ile1402Asn) n.348T>A n.496T>A n.997T>A n.331T>A n.410T>A c.4070T>A (p.Ile1357Asn) n.4366T>A | |
2 | g.71611571T>C | CA347228649 | DYSF | c.1580T>C (p.Ile527Thr) c.797T>C (p.Ile266Thr) c.755T>C (p.Ile252Thr) c.4112T>C (p.Ile1371Thr) c.4166T>C (p.Ile1389Thr) c.4115T>C (p.Ile1372Thr) c.4163T>C (p.Ile1388Thr) c.4208T>C (p.Ile1403Thr) c.4073T>C (p.Ile1358Thr) c.4205T>C (p.Ile1402Thr) n.348T>C n.496T>C n.997T>C n.331T>C n.410T>C c.4070T>C (p.Ile1357Thr) n.4366T>C | |
2 | g.71611571T>G | CA347228648 | DYSF | c.1580T>G (p.Ile527Ser) c.797T>G (p.Ile266Ser) c.755T>G (p.Ile252Ser) c.4112T>G (p.Ile1371Ser) c.4166T>G (p.Ile1389Ser) c.4115T>G (p.Ile1372Ser) c.4163T>G (p.Ile1388Ser) c.4208T>G (p.Ile1403Ser) c.4073T>G (p.Ile1358Ser) c.4205T>G (p.Ile1402Ser) n.348T>G n.496T>G n.997T>G n.331T>G n.410T>G c.4070T>G (p.Ile1357Ser) n.4366T>G | |
2 | g.71611572C>A | CA426758726 | DYSF | c.1581C>A (p.Ile527=) c.798C>A (p.Ile266=) c.756C>A (p.Ile252=) c.4113C>A (p.Ile1371=) c.4167C>A (p.Ile1389=) c.4116C>A (p.Ile1372=) c.4164C>A (p.Ile1388=) c.4209C>A (p.Ile1403=) c.4074C>A (p.Ile1358=) c.4206C>A (p.Ile1402=) n.349C>A n.497C>A n.998C>A n.332C>A n.411C>A c.4071C>A (p.Ile1357=) n.4367C>A | |
2 | g.71611572C>G | CA347228652 | DYSF | c.1581C>G (p.Ile527Met) c.798C>G (p.Ile266Met) c.756C>G (p.Ile252Met) c.4113C>G (p.Ile1371Met) c.4167C>G (p.Ile1389Met) c.4116C>G (p.Ile1372Met) c.4164C>G (p.Ile1388Met) c.4209C>G (p.Ile1403Met) c.4074C>G (p.Ile1358Met) c.4206C>G (p.Ile1402Met) n.349C>G n.497C>G n.998C>G n.332C>G n.411C>G c.4071C>G (p.Ile1357Met) n.4367C>G | |
2 | g.71611572C>T | CA426758728 | DYSF | c.1581C>T (p.Ile527=) c.798C>T (p.Ile266=) c.756C>T (p.Ile252=) c.4113C>T (p.Ile1371=) c.4167C>T (p.Ile1389=) c.4116C>T (p.Ile1372=) c.4164C>T (p.Ile1388=) c.4209C>T (p.Ile1403=) c.4074C>T (p.Ile1358=) c.4206C>T (p.Ile1402=) n.349C>T n.497C>T n.998C>T n.332C>T n.411C>T c.4071C>T (p.Ile1357=) n.4367C>T | ClinVar dbSNP gnomAD v4 |
2 | g.71611573A= | CA1260124175 | DYSF | c.1582A= (p.Arg528=) c.799A= (p.Arg267=) c.757A= (p.Arg253=) c.4114A= (p.Arg1372=) c.4168A= (p.Arg1390=) c.4117A= (p.Arg1373=) c.4165A= (p.Arg1389=) c.4210A= (p.Arg1404=) c.4075A= (p.Arg1359=) c.4207A= (p.Arg1403=) n.350A= n.498A= n.999A= n.333A= n.412A= c.4072A= (p.Arg1358=) n.4368A= | |
2 | g.71611573A>C | CA426758729 | DYSF | c.1582A>C (p.Arg528=) c.799A>C (p.Arg267=) c.757A>C (p.Arg253=) c.4114A>C (p.Arg1372=) c.4168A>C (p.Arg1390=) c.4117A>C (p.Arg1373=) c.4165A>C (p.Arg1389=) c.4210A>C (p.Arg1404=) c.4075A>C (p.Arg1359=) c.4207A>C (p.Arg1403=) n.350A>C n.498A>C n.999A>C n.333A>C n.412A>C c.4072A>C (p.Arg1358=) n.4368A>C | |
2 | g.71611573A>G | CA49779081 | DYSF | c.1582A>G (p.Arg528Gly) c.799A>G (p.Arg267Gly) c.757A>G (p.Arg253Gly) c.4114A>G (p.Arg1372Gly) c.4168A>G (p.Arg1390Gly) c.4117A>G (p.Arg1373Gly) c.4165A>G (p.Arg1389Gly) c.4210A>G (p.Arg1404Gly) c.4075A>G (p.Arg1359Gly) c.4207A>G (p.Arg1403Gly) n.350A>G n.498A>G n.999A>G n.333A>G n.412A>G c.4072A>G (p.Arg1358Gly) n.4368A>G | dbSNP |
2 | g.71611573A>T | CA347228655 | DYSF | c.1582A>T (p.Arg528Trp) c.799A>T (p.Arg267Trp) c.757A>T (p.Arg253Trp) c.4114A>T (p.Arg1372Trp) c.4168A>T (p.Arg1390Trp) c.4117A>T (p.Arg1373Trp) c.4165A>T (p.Arg1389Trp) c.4210A>T (p.Arg1404Trp) c.4075A>T (p.Arg1359Trp) c.4207A>T (p.Arg1403Trp) n.350A>T n.498A>T n.999A>T n.333A>T n.412A>T c.4072A>T (p.Arg1358Trp) n.4368A>T | |
2 | g.71611574G>A | CA347228661 | DYSF | c.1583G>A (p.Arg528Lys) c.800G>A (p.Arg267Lys) c.758G>A (p.Arg253Lys) c.4115G>A (p.Arg1372Lys) c.4169G>A (p.Arg1390Lys) c.4118G>A (p.Arg1373Lys) c.4166G>A (p.Arg1389Lys) c.4211G>A (p.Arg1404Lys) c.4076G>A (p.Arg1359Lys) c.4208G>A (p.Arg1403Lys) n.351G>A n.499G>A n.1000G>A n.334G>A n.413G>A c.4073G>A (p.Arg1358Lys) n.4369G>A | |
2 | g.71611574G>C | CA347228663 | DYSF | c.1583G>C (p.Arg528Thr) c.800G>C (p.Arg267Thr) c.758G>C (p.Arg253Thr) c.4115G>C (p.Arg1372Thr) c.4169G>C (p.Arg1390Thr) c.4118G>C (p.Arg1373Thr) c.4166G>C (p.Arg1389Thr) c.4211G>C (p.Arg1404Thr) c.4076G>C (p.Arg1359Thr) c.4208G>C (p.Arg1403Thr) n.351G>C n.499G>C n.1000G>C n.334G>C n.413G>C c.4073G>C (p.Arg1358Thr) n.4369G>C | |
2 | g.71611574G>T | CA347228665 | DYSF | c.1583G>T (p.Arg528Met) c.800G>T (p.Arg267Met) c.758G>T (p.Arg253Met) c.4115G>T (p.Arg1372Met) c.4169G>T (p.Arg1390Met) c.4118G>T (p.Arg1373Met) c.4166G>T (p.Arg1389Met) c.4211G>T (p.Arg1404Met) c.4076G>T (p.Arg1359Met) c.4208G>T (p.Arg1403Met) n.351G>T n.499G>T n.1000G>T n.334G>T n.413G>T c.4073G>T (p.Arg1358Met) n.4369G>T | |
2 | g.71611575G>A | CA1706910 | DYSF | c.1584G>A (p.Arg528=) c.801G>A (p.Arg267=) c.759G>A (p.Arg253=) c.4116G>A (p.Arg1372=) c.4170G>A (p.Arg1390=) c.4119G>A (p.Arg1373=) c.4167G>A (p.Arg1389=) c.4212G>A (p.Arg1404=) c.4077G>A (p.Arg1359=) c.4209G>A (p.Arg1403=) n.352G>A n.500G>A n.1001G>A n.335G>A n.414G>A c.4074G>A (p.Arg1358=) n.4370G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611575G>C | CA1706909 | DYSF | c.1584G>C (p.Arg528Ser) c.801G>C (p.Arg267Ser) c.759G>C (p.Arg253Ser) c.4116G>C (p.Arg1372Ser) c.4170G>C (p.Arg1390Ser) c.4119G>C (p.Arg1373Ser) c.4167G>C (p.Arg1389Ser) c.4212G>C (p.Arg1404Ser) c.4077G>C (p.Arg1359Ser) c.4209G>C (p.Arg1403Ser) n.352G>C n.500G>C n.1001G>C n.335G>C n.414G>C c.4074G>C (p.Arg1358Ser) n.4370G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611575G= | CA1260124176 | DYSF | c.1584G= (p.Arg528=) c.801G= (p.Arg267=) c.759G= (p.Arg253=) c.4116G= (p.Arg1372=) c.4170G= (p.Arg1390=) c.4119G= (p.Arg1373=) c.4167G= (p.Arg1389=) c.4212G= (p.Arg1404=) c.4077G= (p.Arg1359=) c.4209G= (p.Arg1403=) n.352G= n.500G= n.1001G= n.335G= n.414G= c.4074G= (p.Arg1358=) n.4370G= | |
2 | g.71611575G>T | CA347228671 | DYSF | c.1584G>T (p.Arg528Ser) c.801G>T (p.Arg267Ser) c.759G>T (p.Arg253Ser) c.4116G>T (p.Arg1372Ser) c.4170G>T (p.Arg1390Ser) c.4119G>T (p.Arg1373Ser) c.4167G>T (p.Arg1389Ser) c.4212G>T (p.Arg1404Ser) c.4077G>T (p.Arg1359Ser) c.4209G>T (p.Arg1403Ser) n.352G>T n.500G>T n.1001G>T n.335G>T n.414G>T c.4074G>T (p.Arg1358Ser) n.4370G>T | gnomAD v4 |
2 | g.71611576A>C | CA347228674 | DYSF | c.1585A>C (p.Asn529His) c.802A>C (p.Asn268His) c.760A>C (p.Asn254His) c.4117A>C (p.Asn1373His) c.4171A>C (p.Asn1391His) c.4120A>C (p.Asn1374His) c.4168A>C (p.Asn1390His) c.4213A>C (p.Asn1405His) c.4078A>C (p.Asn1360His) c.4210A>C (p.Asn1404His) n.353A>C n.501A>C n.1002A>C n.336A>C n.415A>C c.4075A>C (p.Asn1359His) n.4371A>C | gnomAD v4 |
2 | g.71611576A>G | CA347228677 | DYSF | c.1585A>G (p.Asn529Asp) c.802A>G (p.Asn268Asp) c.760A>G (p.Asn254Asp) c.4117A>G (p.Asn1373Asp) c.4171A>G (p.Asn1391Asp) c.4120A>G (p.Asn1374Asp) c.4168A>G (p.Asn1390Asp) c.4213A>G (p.Asn1405Asp) c.4078A>G (p.Asn1360Asp) c.4210A>G (p.Asn1404Asp) n.353A>G n.501A>G n.1002A>G n.336A>G n.415A>G c.4075A>G (p.Asn1359Asp) n.4371A>G | |
2 | g.71611576A>T | CA347228680 | DYSF | c.1585A>T (p.Asn529Tyr) c.802A>T (p.Asn268Tyr) c.760A>T (p.Asn254Tyr) c.4117A>T (p.Asn1373Tyr) c.4171A>T (p.Asn1391Tyr) c.4120A>T (p.Asn1374Tyr) c.4168A>T (p.Asn1390Tyr) c.4213A>T (p.Asn1405Tyr) c.4078A>T (p.Asn1360Tyr) c.4210A>T (p.Asn1404Tyr) n.353A>T n.501A>T n.1002A>T n.336A>T n.415A>T c.4075A>T (p.Asn1359Tyr) n.4371A>T | |
2 | g.71611577A>C | CA347228684 | DYSF | c.1586A>C (p.Asn529Thr) c.803A>C (p.Asn268Thr) c.761A>C (p.Asn254Thr) c.4118A>C (p.Asn1373Thr) c.4172A>C (p.Asn1391Thr) c.4121A>C (p.Asn1374Thr) c.4169A>C (p.Asn1390Thr) c.4214A>C (p.Asn1405Thr) c.4079A>C (p.Asn1360Thr) c.4211A>C (p.Asn1404Thr) n.354A>C n.502A>C n.1003A>C n.337A>C n.416A>C c.4076A>C (p.Asn1359Thr) n.4372A>C | |
2 | g.71611577A>G | CA347228685 | DYSF | c.1586A>G (p.Asn529Ser) c.803A>G (p.Asn268Ser) c.761A>G (p.Asn254Ser) c.4118A>G (p.Asn1373Ser) c.4172A>G (p.Asn1391Ser) c.4121A>G (p.Asn1374Ser) c.4169A>G (p.Asn1390Ser) c.4214A>G (p.Asn1405Ser) c.4079A>G (p.Asn1360Ser) c.4211A>G (p.Asn1404Ser) n.354A>G n.502A>G n.1003A>G n.337A>G n.416A>G c.4076A>G (p.Asn1359Ser) n.4372A>G | gnomAD v4 |
2 | g.71611577A>T | CA347228689 | DYSF | c.1586A>T (p.Asn529Ile) c.803A>T (p.Asn268Ile) c.761A>T (p.Asn254Ile) c.4118A>T (p.Asn1373Ile) c.4172A>T (p.Asn1391Ile) c.4121A>T (p.Asn1374Ile) c.4169A>T (p.Asn1390Ile) c.4214A>T (p.Asn1405Ile) c.4079A>T (p.Asn1360Ile) c.4211A>T (p.Asn1404Ile) n.354A>T n.502A>T n.1003A>T n.337A>T n.416A>T c.4076A>T (p.Asn1359Ile) n.4372A>T | gnomAD v4 |
2 | g.71611578C>A | CA49779104 | DYSF | c.1587C>A (p.Asn529Lys) c.804C>A (p.Asn268Lys) c.762C>A (p.Asn254Lys) c.4119C>A (p.Asn1373Lys) c.4173C>A (p.Asn1391Lys) c.4122C>A (p.Asn1374Lys) c.4170C>A (p.Asn1390Lys) c.4215C>A (p.Asn1405Lys) c.4080C>A (p.Asn1360Lys) c.4212C>A (p.Asn1404Lys) n.355C>A n.503C>A n.1004C>A n.338C>A n.417C>A c.4077C>A (p.Asn1359Lys) n.4373C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71611578C= | CA1260124177 | DYSF | c.1587C= (p.Asn529=) c.804C= (p.Asn268=) c.762C= (p.Asn254=) c.4119C= (p.Asn1373=) c.4173C= (p.Asn1391=) c.4122C= (p.Asn1374=) c.4170C= (p.Asn1390=) c.4215C= (p.Asn1405=) c.4080C= (p.Asn1360=) c.4212C= (p.Asn1404=) n.355C= n.503C= n.1004C= n.338C= n.417C= c.4077C= (p.Asn1359=) n.4373C= | |
2 | g.71611578C>G | CA347228694 | DYSF | c.1587C>G (p.Asn529Lys) c.804C>G (p.Asn268Lys) c.762C>G (p.Asn254Lys) c.4119C>G (p.Asn1373Lys) c.4173C>G (p.Asn1391Lys) c.4122C>G (p.Asn1374Lys) c.4170C>G (p.Asn1390Lys) c.4215C>G (p.Asn1405Lys) c.4080C>G (p.Asn1360Lys) c.4212C>G (p.Asn1404Lys) n.355C>G n.503C>G n.1004C>G n.338C>G n.417C>G c.4077C>G (p.Asn1359Lys) n.4373C>G | |
2 | g.71611578C>T | CA426758755 | DYSF | c.1587C>T (p.Asn529=) c.804C>T (p.Asn268=) c.762C>T (p.Asn254=) c.4119C>T (p.Asn1373=) c.4173C>T (p.Asn1391=) c.4122C>T (p.Asn1374=) c.4170C>T (p.Asn1390=) c.4215C>T (p.Asn1405=) c.4080C>T (p.Asn1360=) c.4212C>T (p.Asn1404=) n.355C>T n.503C>T n.1004C>T n.338C>T n.417C>T c.4077C>T (p.Asn1359=) n.4373C>T | gnomAD v4 COSMIC COSMIC |
2 | g.71611579C>A | CA347228697 | DYSF | c.1588C>A (p.Leu530Ile) c.805C>A (p.Leu269Ile) c.763C>A (p.Leu255Ile) c.4120C>A (p.Leu1374Ile) c.4174C>A (p.Leu1392Ile) c.4123C>A (p.Leu1375Ile) c.4171C>A (p.Leu1391Ile) c.4216C>A (p.Leu1406Ile) c.4081C>A (p.Leu1361Ile) c.4213C>A (p.Leu1405Ile) n.356C>A n.504C>A n.1005C>A n.339C>A n.418C>A c.4078C>A (p.Leu1360Ile) n.4374C>A | |
2 | g.71611579C>G | CA347228699 | DYSF | c.1588C>G (p.Leu530Val) c.805C>G (p.Leu269Val) c.763C>G (p.Leu255Val) c.4120C>G (p.Leu1374Val) c.4174C>G (p.Leu1392Val) c.4123C>G (p.Leu1375Val) c.4171C>G (p.Leu1391Val) c.4216C>G (p.Leu1406Val) c.4081C>G (p.Leu1361Val) c.4213C>G (p.Leu1405Val) n.356C>G n.504C>G n.1005C>G n.339C>G n.418C>G c.4078C>G (p.Leu1360Val) n.4374C>G | |
2 | g.71611579C>T | CA347228701 | DYSF | c.1588C>T (p.Leu530Phe) c.805C>T (p.Leu269Phe) c.763C>T (p.Leu255Phe) c.4120C>T (p.Leu1374Phe) c.4174C>T (p.Leu1392Phe) c.4123C>T (p.Leu1375Phe) c.4171C>T (p.Leu1391Phe) c.4216C>T (p.Leu1406Phe) c.4081C>T (p.Leu1361Phe) c.4213C>T (p.Leu1405Phe) n.356C>T n.504C>T n.1005C>T n.339C>T n.418C>T c.4078C>T (p.Leu1360Phe) n.4374C>T | |
2 | g.71611580T>A | CA347228705 | DYSF | c.1589T>A (p.Leu530His) c.806T>A (p.Leu269His) c.764T>A (p.Leu255His) c.4121T>A (p.Leu1374His) c.4175T>A (p.Leu1392His) c.4124T>A (p.Leu1375His) c.4172T>A (p.Leu1391His) c.4217T>A (p.Leu1406His) c.4082T>A (p.Leu1361His) c.4214T>A (p.Leu1405His) n.357T>A n.505T>A n.1006T>A n.340T>A n.419T>A c.4079T>A (p.Leu1360His) n.4375T>A | |
2 | g.71611580T>C | CA347228708 | DYSF | c.1589T>C (p.Leu530Pro) c.806T>C (p.Leu269Pro) c.764T>C (p.Leu255Pro) c.4121T>C (p.Leu1374Pro) c.4175T>C (p.Leu1392Pro) c.4124T>C (p.Leu1375Pro) c.4172T>C (p.Leu1391Pro) c.4217T>C (p.Leu1406Pro) c.4082T>C (p.Leu1361Pro) c.4214T>C (p.Leu1405Pro) n.357T>C n.505T>C n.1006T>C n.340T>C n.419T>C c.4079T>C (p.Leu1360Pro) n.4375T>C | |
2 | g.71611580T>G | CA347228711 | DYSF | c.1589T>G (p.Leu530Arg) c.806T>G (p.Leu269Arg) c.764T>G (p.Leu255Arg) c.4121T>G (p.Leu1374Arg) c.4175T>G (p.Leu1392Arg) c.4124T>G (p.Leu1375Arg) c.4172T>G (p.Leu1391Arg) c.4217T>G (p.Leu1406Arg) c.4082T>G (p.Leu1361Arg) c.4214T>G (p.Leu1405Arg) n.357T>G n.505T>G n.1006T>G n.340T>G n.419T>G c.4079T>G (p.Leu1360Arg) n.4375T>G | |
2 | g.71611581C>A | CA426758766 | DYSF | c.1590C>A (p.Leu530=) c.807C>A (p.Leu269=) c.765C>A (p.Leu255=) c.4122C>A (p.Leu1374=) c.4176C>A (p.Leu1392=) c.4125C>A (p.Leu1375=) c.4173C>A (p.Leu1391=) c.4218C>A (p.Leu1406=) c.4083C>A (p.Leu1361=) c.4215C>A (p.Leu1405=) n.358C>A n.506C>A n.1007C>A n.341C>A n.420C>A c.4080C>A (p.Leu1360=) n.4376C>A | |
2 | g.71611581C>G | CA426758765 | DYSF | c.1590C>G (p.Leu530=) c.807C>G (p.Leu269=) c.765C>G (p.Leu255=) c.4122C>G (p.Leu1374=) c.4176C>G (p.Leu1392=) c.4125C>G (p.Leu1375=) c.4173C>G (p.Leu1391=) c.4218C>G (p.Leu1406=) c.4083C>G (p.Leu1361=) c.4215C>G (p.Leu1405=) n.358C>G n.506C>G n.1007C>G n.341C>G n.420C>G c.4080C>G (p.Leu1360=) n.4376C>G | |
2 | g.71611581C>T | CA426758763 | DYSF | c.1590C>T (p.Leu530=) c.807C>T (p.Leu269=) c.765C>T (p.Leu255=) c.4122C>T (p.Leu1374=) c.4176C>T (p.Leu1392=) c.4125C>T (p.Leu1375=) c.4173C>T (p.Leu1391=) c.4218C>T (p.Leu1406=) c.4083C>T (p.Leu1361=) c.4215C>T (p.Leu1405=) n.358C>T n.506C>T n.1007C>T n.341C>T n.420C>T c.4080C>T (p.Leu1360=) n.4376C>T | ClinVar dbSNP gnomAD v4 |
2 | g.71611582del | CA2499216218 | DYSF | c.1591del (p.Arg531GlyfsTer15) c.808del (p.Arg270GlyfsTer15) c.766del (p.Arg256GlyfsTer15) c.4123del (p.Arg1375GlyfsTer15) c.4177del (p.Arg1393GlyfsTer15) c.4126del (p.Arg1376GlyfsTer15) c.4174del (p.Arg1392GlyfsTer15) c.4219del (p.Arg1407GlyfsTer15) c.4084del (p.Arg1362GlyfsTer15) c.4216del (p.Arg1406GlyfsTer15) n.359del n.507del n.1008del n.342del n.421del c.4081del (p.Arg1361GlyfsTer15) n.4377del | ClinVar dbSNP |
2 | g.71611582C>A | CA426758767 | DYSF | c.1591C>A (p.Arg531=) c.808C>A (p.Arg270=) c.766C>A (p.Arg256=) c.4123C>A (p.Arg1375=) c.4177C>A (p.Arg1393=) c.4126C>A (p.Arg1376=) c.4174C>A (p.Arg1392=) c.4219C>A (p.Arg1407=) c.4084C>A (p.Arg1362=) c.4216C>A (p.Arg1406=) n.359C>A n.507C>A n.1008C>A n.342C>A n.421C>A c.4081C>A (p.Arg1361=) n.4377C>A | |
2 | g.71611582C= | CA1260124179 | DYSF | c.1591C= (p.Arg531=) c.808C= (p.Arg270=) c.766C= (p.Arg256=) c.4123C= (p.Arg1375=) c.4177C= (p.Arg1393=) c.4126C= (p.Arg1376=) c.4174C= (p.Arg1392=) c.4219C= (p.Arg1407=) c.4084C= (p.Arg1362=) c.4216C= (p.Arg1406=) n.359C= n.507C= n.1008C= n.342C= n.421C= c.4081C= (p.Arg1361=) n.4377C= | |
2 | g.71611582C>G | CA347228714 | DYSF | c.1591C>G (p.Arg531Gly) c.808C>G (p.Arg270Gly) c.766C>G (p.Arg256Gly) c.4123C>G (p.Arg1375Gly) c.4177C>G (p.Arg1393Gly) c.4126C>G (p.Arg1376Gly) c.4174C>G (p.Arg1392Gly) c.4219C>G (p.Arg1407Gly) c.4084C>G (p.Arg1362Gly) c.4216C>G (p.Arg1406Gly) n.359C>G n.507C>G n.1008C>G n.342C>G n.421C>G c.4081C>G (p.Arg1361Gly) n.4377C>G | |
2 | g.71611582C>T | CA1706911 | DYSF | c.1591C>T (p.Arg531Trp) c.808C>T (p.Arg270Trp) c.766C>T (p.Arg256Trp) c.4123C>T (p.Arg1375Trp) c.4177C>T (p.Arg1393Trp) c.4126C>T (p.Arg1376Trp) c.4174C>T (p.Arg1392Trp) c.4219C>T (p.Arg1407Trp) c.4084C>T (p.Arg1362Trp) c.4216C>T (p.Arg1406Trp) n.359C>T n.507C>T n.1008C>T n.342C>T n.421C>T c.4081C>T (p.Arg1361Trp) n.4377C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611582_71611583delinsCG | CA1260124178 | DYSF | c.1591_1592delinsCG (p.Arg531=) c.808_809delinsCG (p.Arg270=) c.766_767delinsCG (p.Arg256=) c.4123_4124delinsCG (p.Arg1375=) c.4177_4178delinsCG (p.Arg1393=) c.4126_4127delinsCG (p.Arg1376=) c.4174_4175delinsCG (p.Arg1392=) c.4219_4220delinsCG (p.Arg1407=) c.4084_4085delinsCG (p.Arg1362=) c.4216_4217delinsCG (p.Arg1406=) n.359_360delinsCG n.507_508delinsCG n.1008_1009delinsCG n.342_343delinsCG n.421_422delinsCG c.4081_4082delinsCG (p.Arg1361=) n.4377_4378delinsCG | |
2 | g.71611583G>A | CA1706912 | DYSF | c.1592G>A (p.Arg531Gln) c.809G>A (p.Arg270Gln) c.767G>A (p.Arg256Gln) c.4124G>A (p.Arg1375Gln) c.4178G>A (p.Arg1393Gln) c.4127G>A (p.Arg1376Gln) c.4175G>A (p.Arg1392Gln) c.4220G>A (p.Arg1407Gln) c.4085G>A (p.Arg1362Gln) c.4217G>A (p.Arg1406Gln) n.360G>A n.508G>A n.1009G>A n.343G>A n.422G>A c.4082G>A (p.Arg1361Gln) n.4378G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611583G>C | CA347228720 | DYSF | c.1592G>C (p.Arg531Pro) c.809G>C (p.Arg270Pro) c.767G>C (p.Arg256Pro) c.4124G>C (p.Arg1375Pro) c.4178G>C (p.Arg1393Pro) c.4127G>C (p.Arg1376Pro) c.4175G>C (p.Arg1392Pro) c.4220G>C (p.Arg1407Pro) c.4085G>C (p.Arg1362Pro) c.4217G>C (p.Arg1406Pro) n.360G>C n.508G>C n.1009G>C n.343G>C n.422G>C c.4082G>C (p.Arg1361Pro) n.4378G>C | |
2 | g.71611583G= | CA1260124180 | DYSF | c.1592G= (p.Arg531=) c.809G= (p.Arg270=) c.767G= (p.Arg256=) c.4124G= (p.Arg1375=) c.4178G= (p.Arg1393=) c.4127G= (p.Arg1376=) c.4175G= (p.Arg1392=) c.4220G= (p.Arg1407=) c.4085G= (p.Arg1362=) c.4217G= (p.Arg1406=) n.360G= n.508G= n.1009G= n.343G= n.422G= c.4082G= (p.Arg1361=) n.4378G= | |
2 | g.71611583G>T | CA347228722 | DYSF | c.1592G>T (p.Arg531Leu) c.809G>T (p.Arg270Leu) c.767G>T (p.Arg256Leu) c.4124G>T (p.Arg1375Leu) c.4178G>T (p.Arg1393Leu) c.4127G>T (p.Arg1376Leu) c.4175G>T (p.Arg1392Leu) c.4220G>T (p.Arg1407Leu) c.4085G>T (p.Arg1362Leu) c.4217G>T (p.Arg1406Leu) n.360G>T n.508G>T n.1009G>T n.343G>T n.422G>T c.4082G>T (p.Arg1361Leu) n.4378G>T | |
2 | g.71611584del | CA658820652 | DYSF | c.1593del (p.Lys532ArgfsTer14) c.810del (p.Lys271ArgfsTer14) c.768del (p.Lys257ArgfsTer14) c.4125del (p.Lys1376ArgfsTer14) c.4179del (p.Lys1394ArgfsTer14) c.4128del (p.Lys1377ArgfsTer14) c.4176del (p.Lys1393ArgfsTer14) c.4221del (p.Lys1408ArgfsTer14) c.4086del (p.Lys1363ArgfsTer14) c.4218del (p.Lys1407ArgfsTer14) n.361del n.509del n.1010del n.344del n.423del c.4083del (p.Lys1362ArgfsTer14) n.4379del | ClinVar dbSNP |
2 | g.71611584G>A | CA426758772 | DYSF | c.1593G>A (p.Arg531=) c.810G>A (p.Arg270=) c.768G>A (p.Arg256=) c.4125G>A (p.Arg1375=) c.4179G>A (p.Arg1393=) c.4128G>A (p.Arg1376=) c.4176G>A (p.Arg1392=) c.4221G>A (p.Arg1407=) c.4086G>A (p.Arg1362=) c.4218G>A (p.Arg1406=) n.361G>A n.509G>A n.1010G>A n.344G>A n.423G>A c.4083G>A (p.Arg1361=) n.4379G>A | gnomAD v4 |
2 | g.71611584G>C | CA426758774 | DYSF | c.1593G>C (p.Arg531=) c.810G>C (p.Arg270=) c.768G>C (p.Arg256=) c.4125G>C (p.Arg1375=) c.4179G>C (p.Arg1393=) c.4128G>C (p.Arg1376=) c.4176G>C (p.Arg1392=) c.4221G>C (p.Arg1407=) c.4086G>C (p.Arg1362=) c.4218G>C (p.Arg1406=) n.361G>C n.509G>C n.1010G>C n.344G>C n.423G>C c.4083G>C (p.Arg1361=) n.4379G>C | |
2 | g.71611584G>T | CA426758773 | DYSF | c.1593G>T (p.Arg531=) c.810G>T (p.Arg270=) c.768G>T (p.Arg256=) c.4125G>T (p.Arg1375=) c.4179G>T (p.Arg1393=) c.4128G>T (p.Arg1376=) c.4176G>T (p.Arg1392=) c.4221G>T (p.Arg1407=) c.4086G>T (p.Arg1362=) c.4218G>T (p.Arg1406=) n.361G>T n.509G>T n.1010G>T n.344G>T n.423G>T c.4083G>T (p.Arg1361=) n.4379G>T | |
2 | g.71611585A>C | CA347228729 | DYSF | c.1594A>C (p.Lys532Gln) c.811A>C (p.Lys271Gln) c.769A>C (p.Lys257Gln) c.4126A>C (p.Lys1376Gln) c.4180A>C (p.Lys1394Gln) c.4129A>C (p.Lys1377Gln) c.4177A>C (p.Lys1393Gln) c.4222A>C (p.Lys1408Gln) c.4087A>C (p.Lys1363Gln) c.4219A>C (p.Lys1407Gln) n.362A>C n.510A>C n.1011A>C n.345A>C n.424A>C c.4084A>C (p.Lys1362Gln) n.4380A>C | |
2 | g.71611585A>G | CA347228731 | DYSF | c.1594A>G (p.Lys532Glu) c.811A>G (p.Lys271Glu) c.769A>G (p.Lys257Glu) c.4126A>G (p.Lys1376Glu) c.4180A>G (p.Lys1394Glu) c.4129A>G (p.Lys1377Glu) c.4177A>G (p.Lys1393Glu) c.4222A>G (p.Lys1408Glu) c.4087A>G (p.Lys1363Glu) c.4219A>G (p.Lys1407Glu) n.362A>G n.510A>G n.1011A>G n.345A>G n.424A>G c.4084A>G (p.Lys1362Glu) n.4380A>G | |
2 | g.71611585A>T | CA347228726 | DYSF | c.1594A>T (p.Lys532Ter) c.811A>T (p.Lys271Ter) c.769A>T (p.Lys257Ter) c.4126A>T (p.Lys1376Ter) c.4180A>T (p.Lys1394Ter) c.4129A>T (p.Lys1377Ter) c.4177A>T (p.Lys1393Ter) c.4222A>T (p.Lys1408Ter) c.4087A>T (p.Lys1363Ter) c.4219A>T (p.Lys1407Ter) n.362A>T n.510A>T n.1011A>T n.345A>T n.424A>T c.4084A>T (p.Lys1362Ter) n.4380A>T | |
2 | g.71611586A>C | CA347228734 | DYSF | c.1595A>C (p.Lys532Thr) c.812A>C (p.Lys271Thr) c.770A>C (p.Lys257Thr) c.4127A>C (p.Lys1376Thr) c.4181A>C (p.Lys1394Thr) c.4130A>C (p.Lys1377Thr) c.4178A>C (p.Lys1393Thr) c.4223A>C (p.Lys1408Thr) c.4088A>C (p.Lys1363Thr) c.4220A>C (p.Lys1407Thr) n.363A>C n.511A>C n.1012A>C n.346A>C n.425A>C c.4085A>C (p.Lys1362Thr) n.4381A>C | |
2 | g.71611586A>G | CA347228737 | DYSF | c.1595A>G (p.Lys532Arg) c.812A>G (p.Lys271Arg) c.770A>G (p.Lys257Arg) c.4127A>G (p.Lys1376Arg) c.4181A>G (p.Lys1394Arg) c.4130A>G (p.Lys1377Arg) c.4178A>G (p.Lys1393Arg) c.4223A>G (p.Lys1408Arg) c.4088A>G (p.Lys1363Arg) c.4220A>G (p.Lys1407Arg) n.363A>G n.511A>G n.1012A>G n.346A>G n.425A>G c.4085A>G (p.Lys1362Arg) n.4381A>G | |
2 | g.71611586A>T | CA347228739 | DYSF | c.1595A>T (p.Lys532Met) c.812A>T (p.Lys271Met) c.770A>T (p.Lys257Met) c.4127A>T (p.Lys1376Met) c.4181A>T (p.Lys1394Met) c.4130A>T (p.Lys1377Met) c.4178A>T (p.Lys1393Met) c.4223A>T (p.Lys1408Met) c.4088A>T (p.Lys1363Met) c.4220A>T (p.Lys1407Met) n.363A>T n.511A>T n.1012A>T n.346A>T n.425A>T c.4085A>T (p.Lys1362Met) n.4381A>T | |
2 | g.71611587G>A | CA426758779 | DYSF | c.1596G>A (p.Lys532=) c.813G>A (p.Lys271=) c.771G>A (p.Lys257=) c.4128G>A (p.Lys1376=) c.4182G>A (p.Lys1394=) c.4131G>A (p.Lys1377=) c.4179G>A (p.Lys1393=) c.4224G>A (p.Lys1408=) c.4089G>A (p.Lys1363=) c.4221G>A (p.Lys1407=) n.364G>A n.512G>A n.1013G>A n.347G>A n.426G>A c.4086G>A (p.Lys1362=) n.4382G>A | gnomAD v4 COSMIC COSMIC |
2 | g.71611587G>C | CA347228743 | DYSF | c.1596G>C (p.Lys532Asn) c.813G>C (p.Lys271Asn) c.771G>C (p.Lys257Asn) c.4128G>C (p.Lys1376Asn) c.4182G>C (p.Lys1394Asn) c.4131G>C (p.Lys1377Asn) c.4179G>C (p.Lys1393Asn) c.4224G>C (p.Lys1408Asn) c.4089G>C (p.Lys1363Asn) c.4221G>C (p.Lys1407Asn) n.364G>C n.512G>C n.1013G>C n.347G>C n.426G>C c.4086G>C (p.Lys1362Asn) n.4382G>C | dbSNP |
2 | g.71611587G= | CA1260124181 | DYSF | c.1596G= (p.Lys532=) c.813G= (p.Lys271=) c.771G= (p.Lys257=) c.4128G= (p.Lys1376=) c.4182G= (p.Lys1394=) c.4131G= (p.Lys1377=) c.4179G= (p.Lys1393=) c.4224G= (p.Lys1408=) c.4089G= (p.Lys1363=) c.4221G= (p.Lys1407=) n.364G= n.512G= n.1013G= n.347G= n.426G= c.4086G= (p.Lys1362=) n.4382G= | |
2 | g.71611587G>T | CA347228745 | DYSF | c.1596G>T (p.Lys532Asn) c.813G>T (p.Lys271Asn) c.771G>T (p.Lys257Asn) c.4128G>T (p.Lys1376Asn) c.4182G>T (p.Lys1394Asn) c.4131G>T (p.Lys1377Asn) c.4179G>T (p.Lys1393Asn) c.4224G>T (p.Lys1408Asn) c.4089G>T (p.Lys1363Asn) c.4221G>T (p.Lys1407Asn) n.364G>T n.512G>T n.1013G>T n.347G>T n.426G>T c.4086G>T (p.Lys1362Asn) n.4382G>T | |
2 | g.71611588A>C | CA347228749 | DYSF | c.1597A>C (p.Asn533His) c.814A>C (p.Asn272His) c.772A>C (p.Asn258His) c.4129A>C (p.Asn1377His) c.4183A>C (p.Asn1395His) c.4132A>C (p.Asn1378His) c.4180A>C (p.Asn1394His) c.4225A>C (p.Asn1409His) c.4090A>C (p.Asn1364His) c.4222A>C (p.Asn1408His) n.365A>C n.513A>C n.1014A>C n.348A>C n.427A>C c.4087A>C (p.Asn1363His) n.4383A>C | gnomAD v4 |
2 | g.71611588A>G | CA347228751 | DYSF | c.1597A>G (p.Asn533Asp) c.814A>G (p.Asn272Asp) c.772A>G (p.Asn258Asp) c.4129A>G (p.Asn1377Asp) c.4183A>G (p.Asn1395Asp) c.4132A>G (p.Asn1378Asp) c.4180A>G (p.Asn1394Asp) c.4225A>G (p.Asn1409Asp) c.4090A>G (p.Asn1364Asp) c.4222A>G (p.Asn1408Asp) n.365A>G n.513A>G n.1014A>G n.348A>G n.427A>G c.4087A>G (p.Asn1363Asp) n.4383A>G | |
2 | g.71611588A>T | CA347228753 | DYSF | c.1597A>T (p.Asn533Tyr) c.814A>T (p.Asn272Tyr) c.772A>T (p.Asn258Tyr) c.4129A>T (p.Asn1377Tyr) c.4183A>T (p.Asn1395Tyr) c.4132A>T (p.Asn1378Tyr) c.4180A>T (p.Asn1394Tyr) c.4225A>T (p.Asn1409Tyr) c.4090A>T (p.Asn1364Tyr) c.4222A>T (p.Asn1408Tyr) n.365A>T n.513A>T n.1014A>T n.348A>T n.427A>T c.4087A>T (p.Asn1363Tyr) n.4383A>T | |
2 | g.71611589A>C | CA347228757 | DYSF | c.1598A>C (p.Asn533Thr) c.815A>C (p.Asn272Thr) c.773A>C (p.Asn258Thr) c.4130A>C (p.Asn1377Thr) c.4184A>C (p.Asn1395Thr) c.4133A>C (p.Asn1378Thr) c.4181A>C (p.Asn1394Thr) c.4226A>C (p.Asn1409Thr) c.4091A>C (p.Asn1364Thr) c.4223A>C (p.Asn1408Thr) n.366A>C n.514A>C n.1015A>C n.349A>C n.428A>C c.4088A>C (p.Asn1363Thr) n.4384A>C | |
2 | g.71611589A>G | CA347228759 | DYSF | c.1598A>G (p.Asn533Ser) c.815A>G (p.Asn272Ser) c.773A>G (p.Asn258Ser) c.4130A>G (p.Asn1377Ser) c.4184A>G (p.Asn1395Ser) c.4133A>G (p.Asn1378Ser) c.4181A>G (p.Asn1394Ser) c.4226A>G (p.Asn1409Ser) c.4091A>G (p.Asn1364Ser) c.4223A>G (p.Asn1408Ser) n.366A>G n.514A>G n.1015A>G n.349A>G n.428A>G c.4088A>G (p.Asn1363Ser) n.4384A>G | gnomAD v4 |
2 | g.71611589A>T | CA347228761 | DYSF | c.1598A>T (p.Asn533Ile) c.815A>T (p.Asn272Ile) c.773A>T (p.Asn258Ile) c.4130A>T (p.Asn1377Ile) c.4184A>T (p.Asn1395Ile) c.4133A>T (p.Asn1378Ile) c.4181A>T (p.Asn1394Ile) c.4226A>T (p.Asn1409Ile) c.4091A>T (p.Asn1364Ile) c.4223A>T (p.Asn1408Ile) n.366A>T n.514A>T n.1015A>T n.349A>T n.428A>T c.4088A>T (p.Asn1363Ile) n.4384A>T | |
2 | g.71611590C>A | CA1706913 | DYSF | c.1599C>A (p.Asn533Lys) c.816C>A (p.Asn272Lys) c.774C>A (p.Asn258Lys) c.4131C>A (p.Asn1377Lys) c.4185C>A (p.Asn1395Lys) c.4134C>A (p.Asn1378Lys) c.4182C>A (p.Asn1394Lys) c.4227C>A (p.Asn1409Lys) c.4092C>A (p.Asn1364Lys) c.4224C>A (p.Asn1408Lys) n.367C>A n.515C>A n.1016C>A n.350C>A n.429C>A c.4089C>A (p.Asn1363Lys) n.4385C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611590C= | CA1260124182 | DYSF | c.1599C= (p.Asn533=) c.816C= (p.Asn272=) c.774C= (p.Asn258=) c.4131C= (p.Asn1377=) c.4185C= (p.Asn1395=) c.4134C= (p.Asn1378=) c.4182C= (p.Asn1394=) c.4227C= (p.Asn1409=) c.4092C= (p.Asn1364=) c.4224C= (p.Asn1408=) n.367C= n.515C= n.1016C= n.350C= n.429C= c.4089C= (p.Asn1363=) n.4385C= | |
2 | g.71611590C>G | CA347228766 | DYSF | c.1599C>G (p.Asn533Lys) c.816C>G (p.Asn272Lys) c.774C>G (p.Asn258Lys) c.4131C>G (p.Asn1377Lys) c.4185C>G (p.Asn1395Lys) c.4134C>G (p.Asn1378Lys) c.4182C>G (p.Asn1394Lys) c.4227C>G (p.Asn1409Lys) c.4092C>G (p.Asn1364Lys) c.4224C>G (p.Asn1408Lys) n.367C>G n.515C>G n.1016C>G n.350C>G n.429C>G c.4089C>G (p.Asn1363Lys) n.4385C>G | |
2 | g.71611590C>T | CA426758784 | DYSF | c.1599C>T (p.Asn533=) c.816C>T (p.Asn272=) c.774C>T (p.Asn258=) c.4131C>T (p.Asn1377=) c.4185C>T (p.Asn1395=) c.4134C>T (p.Asn1378=) c.4182C>T (p.Asn1394=) c.4227C>T (p.Asn1409=) c.4092C>T (p.Asn1364=) c.4224C>T (p.Asn1408=) n.367C>T n.515C>T n.1016C>T n.350C>T n.429C>T c.4089C>T (p.Asn1363=) n.4385C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611593del | CA2697548251 | DYSF | c.1602del (p.Asn535ThrfsTer11) c.819del (p.Asn274ThrfsTer11) c.777del (p.Asn260ThrfsTer11) c.4134del (p.Asn1379ThrfsTer11) c.4188del (p.Asn1397ThrfsTer11) c.4137del (p.Asn1380ThrfsTer11) c.4185del (p.Asn1396ThrfsTer11) c.4230del (p.Asn1411ThrfsTer11) c.4095del (p.Asn1366ThrfsTer11) c.4227del (p.Asn1410ThrfsTer11) n.370del n.518del n.1019del n.353del n.432del c.4092del (p.Asn1365ThrfsTer11) n.4388del | ClinVar |
2 | g.71611591C>A | CA347228774 | DYSF | c.1600C>A (p.Pro534Thr) c.817C>A (p.Pro273Thr) c.775C>A (p.Pro259Thr) c.4132C>A (p.Pro1378Thr) c.4186C>A (p.Pro1396Thr) c.4135C>A (p.Pro1379Thr) c.4183C>A (p.Pro1395Thr) c.4228C>A (p.Pro1410Thr) c.4093C>A (p.Pro1365Thr) c.4225C>A (p.Pro1409Thr) n.368C>A n.516C>A n.1017C>A n.351C>A n.430C>A c.4090C>A (p.Pro1364Thr) n.4386C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71611591C= | CA1260124183 | DYSF | c.1600C= (p.Pro534=) c.817C= (p.Pro273=) c.775C= (p.Pro259=) c.4132C= (p.Pro1378=) c.4186C= (p.Pro1396=) c.4135C= (p.Pro1379=) c.4183C= (p.Pro1395=) c.4228C= (p.Pro1410=) c.4093C= (p.Pro1365=) c.4225C= (p.Pro1409=) n.368C= n.516C= n.1017C= n.351C= n.430C= c.4090C= (p.Pro1364=) n.4386C= | |
2 | g.71611591C>G | CA347228771 | DYSF | c.1600C>G (p.Pro534Ala) c.817C>G (p.Pro273Ala) c.775C>G (p.Pro259Ala) c.4132C>G (p.Pro1378Ala) c.4186C>G (p.Pro1396Ala) c.4135C>G (p.Pro1379Ala) c.4183C>G (p.Pro1395Ala) c.4228C>G (p.Pro1410Ala) c.4093C>G (p.Pro1365Ala) c.4225C>G (p.Pro1409Ala) n.368C>G n.516C>G n.1017C>G n.351C>G n.430C>G c.4090C>G (p.Pro1364Ala) n.4386C>G | |
2 | g.71611591C>T | CA347228770 | DYSF | c.1600C>T (p.Pro534Ser) c.817C>T (p.Pro273Ser) c.775C>T (p.Pro259Ser) c.4132C>T (p.Pro1378Ser) c.4186C>T (p.Pro1396Ser) c.4135C>T (p.Pro1379Ser) c.4183C>T (p.Pro1395Ser) c.4228C>T (p.Pro1410Ser) c.4093C>T (p.Pro1365Ser) c.4225C>T (p.Pro1409Ser) n.368C>T n.516C>T n.1017C>T n.351C>T n.430C>T c.4090C>T (p.Pro1364Ser) n.4386C>T | dbSNP COSMIC COSMIC |
2 | g.71611592C>A | CA347228776 | DYSF | c.1601C>A (p.Pro534His) c.818C>A (p.Pro273His) c.776C>A (p.Pro259His) c.4133C>A (p.Pro1378His) c.4187C>A (p.Pro1396His) c.4136C>A (p.Pro1379His) c.4184C>A (p.Pro1395His) c.4229C>A (p.Pro1410His) c.4094C>A (p.Pro1365His) c.4226C>A (p.Pro1409His) n.369C>A n.517C>A n.1018C>A n.352C>A n.431C>A c.4091C>A (p.Pro1364His) n.4387C>A | |
2 | g.71611592C>G | CA347228779 | DYSF | c.1601C>G (p.Pro534Arg) c.818C>G (p.Pro273Arg) c.776C>G (p.Pro259Arg) c.4133C>G (p.Pro1378Arg) c.4187C>G (p.Pro1396Arg) c.4136C>G (p.Pro1379Arg) c.4184C>G (p.Pro1395Arg) c.4229C>G (p.Pro1410Arg) c.4094C>G (p.Pro1365Arg) c.4226C>G (p.Pro1409Arg) n.369C>G n.517C>G n.1018C>G n.352C>G n.431C>G c.4091C>G (p.Pro1364Arg) n.4387C>G | |
2 | g.71611592C>T | CA347228781 | DYSF | c.1601C>T (p.Pro534Leu) c.818C>T (p.Pro273Leu) c.776C>T (p.Pro259Leu) c.4133C>T (p.Pro1378Leu) c.4187C>T (p.Pro1396Leu) c.4136C>T (p.Pro1379Leu) c.4184C>T (p.Pro1395Leu) c.4229C>T (p.Pro1410Leu) c.4094C>T (p.Pro1365Leu) c.4226C>T (p.Pro1409Leu) n.369C>T n.517C>T n.1018C>T n.352C>T n.431C>T c.4091C>T (p.Pro1364Leu) n.4387C>T | COSMIC COSMIC |
2 | g.71611593C>A | CA426758787 | DYSF | c.1602C>A (p.Pro534=) c.819C>A (p.Pro273=) c.777C>A (p.Pro259=) c.4134C>A (p.Pro1378=) c.4188C>A (p.Pro1396=) c.4137C>A (p.Pro1379=) c.4185C>A (p.Pro1395=) c.4230C>A (p.Pro1410=) c.4095C>A (p.Pro1365=) c.4227C>A (p.Pro1409=) n.370C>A n.518C>A n.1019C>A n.353C>A n.432C>A c.4092C>A (p.Pro1364=) n.4388C>A | |
2 | g.71611593C= | CA1260124184 | DYSF | c.1602C= (p.Pro534=) c.819C= (p.Pro273=) c.777C= (p.Pro259=) c.4134C= (p.Pro1378=) c.4188C= (p.Pro1396=) c.4137C= (p.Pro1379=) c.4185C= (p.Pro1395=) c.4230C= (p.Pro1410=) c.4095C= (p.Pro1365=) c.4227C= (p.Pro1409=) n.370C= n.518C= n.1019C= n.353C= n.432C= c.4092C= (p.Pro1364=) n.4388C= | |
2 | g.71611593C>G | CA426758788 | DYSF | c.1602C>G (p.Pro534=) c.819C>G (p.Pro273=) c.777C>G (p.Pro259=) c.4134C>G (p.Pro1378=) c.4188C>G (p.Pro1396=) c.4137C>G (p.Pro1379=) c.4185C>G (p.Pro1395=) c.4230C>G (p.Pro1410=) c.4095C>G (p.Pro1365=) c.4227C>G (p.Pro1409=) n.370C>G n.518C>G n.1019C>G n.353C>G n.432C>G c.4092C>G (p.Pro1364=) n.4388C>G | |
2 | g.71611593C>T | CA1706914 | DYSF | c.1602C>T (p.Pro534=) c.819C>T (p.Pro273=) c.777C>T (p.Pro259=) c.4134C>T (p.Pro1378=) c.4188C>T (p.Pro1396=) c.4137C>T (p.Pro1379=) c.4185C>T (p.Pro1395=) c.4230C>T (p.Pro1410=) c.4095C>T (p.Pro1365=) c.4227C>T (p.Pro1409=) n.370C>T n.518C>T n.1019C>T n.353C>T n.432C>T c.4092C>T (p.Pro1364=) n.4388C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.71611594A>C | CA347228786 | DYSF | c.1603A>C (p.Asn535His) c.820A>C (p.Asn274His) c.778A>C (p.Asn260His) c.4135A>C (p.Asn1379His) c.4189A>C (p.Asn1397His) c.4138A>C (p.Asn1380His) c.4186A>C (p.Asn1396His) c.4231A>C (p.Asn1411His) c.4096A>C (p.Asn1366His) c.4228A>C (p.Asn1410His) n.371A>C n.519A>C n.1020A>C n.354A>C n.433A>C c.4093A>C (p.Asn1365His) n.4389A>C | |
2 | g.71611594A>G | CA347228787 | DYSF | c.1603A>G (p.Asn535Asp) c.820A>G (p.Asn274Asp) c.778A>G (p.Asn260Asp) c.4135A>G (p.Asn1379Asp) c.4189A>G (p.Asn1397Asp) c.4138A>G (p.Asn1380Asp) c.4186A>G (p.Asn1396Asp) c.4231A>G (p.Asn1411Asp) c.4096A>G (p.Asn1366Asp) c.4228A>G (p.Asn1410Asp) n.371A>G n.519A>G n.1020A>G n.354A>G n.433A>G c.4093A>G (p.Asn1365Asp) n.4389A>G | gnomAD v4 |
2 | g.71611594A>T | CA347228790 | DYSF | c.1603A>T (p.Asn535Tyr) c.820A>T (p.Asn274Tyr) c.778A>T (p.Asn260Tyr) c.4135A>T (p.Asn1379Tyr) c.4189A>T (p.Asn1397Tyr) c.4138A>T (p.Asn1380Tyr) c.4186A>T (p.Asn1396Tyr) c.4231A>T (p.Asn1411Tyr) c.4096A>T (p.Asn1366Tyr) c.4228A>T (p.Asn1410Tyr) n.371A>T n.519A>T n.1020A>T n.354A>T n.433A>T c.4093A>T (p.Asn1365Tyr) n.4389A>T | |
2 | g.71611595A= | CA1260124185 | DYSF | c.1604A= (p.Asn535=) c.821A= (p.Asn274=) c.779A= (p.Asn260=) c.4136A= (p.Asn1379=) c.4190A= (p.Asn1397=) c.4139A= (p.Asn1380=) c.4187A= (p.Asn1396=) c.4232A= (p.Asn1411=) c.4097A= (p.Asn1366=) c.4229A= (p.Asn1410=) n.372A= n.520A= n.1021A= n.355A= n.434A= c.4094A= (p.Asn1365=) n.4390A= | |
2 | g.71611595A>C | CA347228793 | DYSF | c.1604A>C (p.Asn535Thr) c.821A>C (p.Asn274Thr) c.779A>C (p.Asn260Thr) c.4136A>C (p.Asn1379Thr) c.4190A>C (p.Asn1397Thr) c.4139A>C (p.Asn1380Thr) c.4187A>C (p.Asn1396Thr) c.4232A>C (p.Asn1411Thr) c.4097A>C (p.Asn1366Thr) c.4229A>C (p.Asn1410Thr) n.372A>C n.520A>C n.1021A>C n.355A>C n.434A>C c.4094A>C (p.Asn1365Thr) n.4390A>C | |
2 | g.71611595A>G | CA347228795 | DYSF | c.1604A>G (p.Asn535Ser) c.821A>G (p.Asn274Ser) c.779A>G (p.Asn260Ser) c.4136A>G (p.Asn1379Ser) c.4190A>G (p.Asn1397Ser) c.4139A>G (p.Asn1380Ser) c.4187A>G (p.Asn1396Ser) c.4232A>G (p.Asn1411Ser) c.4097A>G (p.Asn1366Ser) c.4229A>G (p.Asn1410Ser) n.372A>G n.520A>G n.1021A>G n.355A>G n.434A>G c.4094A>G (p.Asn1365Ser) n.4390A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611595A>T | CA347228797 | DYSF | c.1604A>T (p.Asn535Ile) c.821A>T (p.Asn274Ile) c.779A>T (p.Asn260Ile) c.4136A>T (p.Asn1379Ile) c.4190A>T (p.Asn1397Ile) c.4139A>T (p.Asn1380Ile) c.4187A>T (p.Asn1396Ile) c.4232A>T (p.Asn1411Ile) c.4097A>T (p.Asn1366Ile) c.4229A>T (p.Asn1410Ile) n.372A>T n.520A>T n.1021A>T n.355A>T n.434A>T c.4094A>T (p.Asn1365Ile) n.4390A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71611596C>A | CA1706915 | DYSF | c.1605C>A (p.Asn535Lys) c.822C>A (p.Asn274Lys) c.780C>A (p.Asn260Lys) c.4137C>A (p.Asn1379Lys) c.4191C>A (p.Asn1397Lys) c.4140C>A (p.Asn1380Lys) c.4188C>A (p.Asn1396Lys) c.4233C>A (p.Asn1411Lys) c.4098C>A (p.Asn1366Lys) c.4230C>A (p.Asn1410Lys) n.373C>A n.521C>A n.1022C>A n.356C>A n.435C>A c.4095C>A (p.Asn1365Lys) n.4391C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611596C= | CA1260124186 | DYSF | c.1605C= (p.Asn535=) c.822C= (p.Asn274=) c.780C= (p.Asn260=) c.4137C= (p.Asn1379=) c.4191C= (p.Asn1397=) c.4140C= (p.Asn1380=) c.4188C= (p.Asn1396=) c.4233C= (p.Asn1411=) c.4098C= (p.Asn1366=) c.4230C= (p.Asn1410=) n.373C= n.521C= n.1022C= n.356C= n.435C= c.4095C= (p.Asn1365=) n.4391C= | |
2 | g.71611596C>G | CA347228802 | DYSF | c.1605C>G (p.Asn535Lys) c.822C>G (p.Asn274Lys) c.780C>G (p.Asn260Lys) c.4137C>G (p.Asn1379Lys) c.4191C>G (p.Asn1397Lys) c.4140C>G (p.Asn1380Lys) c.4188C>G (p.Asn1396Lys) c.4233C>G (p.Asn1411Lys) c.4098C>G (p.Asn1366Lys) c.4230C>G (p.Asn1410Lys) n.373C>G n.521C>G n.1022C>G n.356C>G n.435C>G c.4095C>G (p.Asn1365Lys) n.4391C>G | |
2 | g.71611596C>T | CA426758793 | DYSF | c.1605C>T (p.Asn535=) c.822C>T (p.Asn274=) c.780C>T (p.Asn260=) c.4137C>T (p.Asn1379=) c.4191C>T (p.Asn1397=) c.4140C>T (p.Asn1380=) c.4188C>T (p.Asn1396=) c.4233C>T (p.Asn1411=) c.4098C>T (p.Asn1366=) c.4230C>T (p.Asn1410=) n.373C>T n.521C>T n.1022C>T n.356C>T n.435C>T c.4095C>T (p.Asn1365=) n.4391C>T | ClinVar |
2 | g.71611597T>A | CA347228809 | DYSF | c.1606T>A (p.Phe536Ile) c.823T>A (p.Phe275Ile) c.781T>A (p.Phe261Ile) c.4138T>A (p.Phe1380Ile) c.4192T>A (p.Phe1398Ile) c.4141T>A (p.Phe1381Ile) c.4189T>A (p.Phe1397Ile) c.4234T>A (p.Phe1412Ile) c.4099T>A (p.Phe1367Ile) c.4231T>A (p.Phe1411Ile) n.374T>A n.522T>A n.1023T>A n.357T>A n.436T>A c.4096T>A (p.Phe1366Ile) n.4392T>A | |
2 | g.71611597T>C | CA347228807 | DYSF | c.1606T>C (p.Phe536Leu) c.823T>C (p.Phe275Leu) c.781T>C (p.Phe261Leu) c.4138T>C (p.Phe1380Leu) c.4192T>C (p.Phe1398Leu) c.4141T>C (p.Phe1381Leu) c.4189T>C (p.Phe1397Leu) c.4234T>C (p.Phe1412Leu) c.4099T>C (p.Phe1367Leu) c.4231T>C (p.Phe1411Leu) n.374T>C n.522T>C n.1023T>C n.357T>C n.436T>C c.4096T>C (p.Phe1366Leu) n.4392T>C | |
2 | g.71611597T>G | CA347228805 | DYSF | c.1606T>G (p.Phe536Val) c.823T>G (p.Phe275Val) c.781T>G (p.Phe261Val) c.4138T>G (p.Phe1380Val) c.4192T>G (p.Phe1398Val) c.4141T>G (p.Phe1381Val) c.4189T>G (p.Phe1397Val) c.4234T>G (p.Phe1412Val) c.4099T>G (p.Phe1367Val) c.4231T>G (p.Phe1411Val) n.374T>G n.522T>G n.1023T>G n.357T>G n.436T>G c.4096T>G (p.Phe1366Val) n.4392T>G | |
2 | g.71611598T>A | CA347228812 | DYSF | c.1607T>A (p.Phe536Tyr) c.824T>A (p.Phe275Tyr) c.782T>A (p.Phe261Tyr) c.4139T>A (p.Phe1380Tyr) c.4193T>A (p.Phe1398Tyr) c.4142T>A (p.Phe1381Tyr) c.4190T>A (p.Phe1397Tyr) c.4235T>A (p.Phe1412Tyr) c.4100T>A (p.Phe1367Tyr) c.4232T>A (p.Phe1411Tyr) n.375T>A n.523T>A n.1024T>A n.358T>A n.437T>A c.4097T>A (p.Phe1366Tyr) n.4393T>A | |
2 | g.71611598T>C | CA347228816 | DYSF | c.1607T>C (p.Phe536Ser) c.824T>C (p.Phe275Ser) c.782T>C (p.Phe261Ser) c.4139T>C (p.Phe1380Ser) c.4193T>C (p.Phe1398Ser) c.4142T>C (p.Phe1381Ser) c.4190T>C (p.Phe1397Ser) c.4235T>C (p.Phe1412Ser) c.4100T>C (p.Phe1367Ser) c.4232T>C (p.Phe1411Ser) n.375T>C n.523T>C n.1024T>C n.358T>C n.437T>C c.4097T>C (p.Phe1366Ser) n.4393T>C | ClinVar dbSNP |
2 | g.71611598T>G | CA347228814 | DYSF | c.1607T>G (p.Phe536Cys) c.824T>G (p.Phe275Cys) c.782T>G (p.Phe261Cys) c.4139T>G (p.Phe1380Cys) c.4193T>G (p.Phe1398Cys) c.4142T>G (p.Phe1381Cys) c.4190T>G (p.Phe1397Cys) c.4235T>G (p.Phe1412Cys) c.4100T>G (p.Phe1367Cys) c.4232T>G (p.Phe1411Cys) n.375T>G n.523T>G n.1024T>G n.358T>G n.437T>G c.4097T>G (p.Phe1366Cys) n.4393T>G | |
2 | g.71611598T= | CA1260124187 | DYSF | c.1607T= (p.Phe536=) c.824T= (p.Phe275=) c.782T= (p.Phe261=) c.4139T= (p.Phe1380=) c.4193T= (p.Phe1398=) c.4142T= (p.Phe1381=) c.4190T= (p.Phe1397=) c.4235T= (p.Phe1412=) c.4100T= (p.Phe1367=) c.4232T= (p.Phe1411=) n.375T= n.523T= n.1024T= n.358T= n.437T= c.4097T= (p.Phe1366=) n.4393T= | |
2 | g.71611599T>A | CA347228818 | DYSF | c.1608T>A (p.Phe536Leu) c.825T>A (p.Phe275Leu) c.783T>A (p.Phe261Leu) c.4140T>A (p.Phe1380Leu) c.4194T>A (p.Phe1398Leu) c.4143T>A (p.Phe1381Leu) c.4191T>A (p.Phe1397Leu) c.4236T>A (p.Phe1412Leu) c.4101T>A (p.Phe1367Leu) c.4233T>A (p.Phe1411Leu) n.376T>A n.524T>A n.1025T>A n.359T>A n.438T>A c.4098T>A (p.Phe1366Leu) n.4394T>A | |
2 | g.71611599T>C | CA426758800 | DYSF | c.1608T>C (p.Phe536=) c.825T>C (p.Phe275=) c.783T>C (p.Phe261=) c.4140T>C (p.Phe1380=) c.4194T>C (p.Phe1398=) c.4143T>C (p.Phe1381=) c.4191T>C (p.Phe1397=) c.4236T>C (p.Phe1412=) c.4101T>C (p.Phe1367=) c.4233T>C (p.Phe1411=) n.376T>C n.524T>C n.1025T>C n.359T>C n.438T>C c.4098T>C (p.Phe1366=) n.4394T>C | |
2 | g.71611599T>G | CA347228821 | DYSF | c.1608T>G (p.Phe536Leu) c.825T>G (p.Phe275Leu) c.783T>G (p.Phe261Leu) c.4140T>G (p.Phe1380Leu) c.4194T>G (p.Phe1398Leu) c.4143T>G (p.Phe1381Leu) c.4191T>G (p.Phe1397Leu) c.4236T>G (p.Phe1412Leu) c.4101T>G (p.Phe1367Leu) c.4233T>G (p.Phe1411Leu) n.376T>G n.524T>G n.1025T>G n.359T>G n.438T>G c.4098T>G (p.Phe1366Leu) n.4394T>G | |
2 | g.71611600G>A | CA347228825 | DYSF | c.1609G>A (p.Asp537Asn) c.826G>A (p.Asp276Asn) c.784G>A (p.Asp262Asn) c.4141G>A (p.Asp1381Asn) c.4195G>A (p.Asp1399Asn) c.4144G>A (p.Asp1382Asn) c.4192G>A (p.Asp1398Asn) c.4237G>A (p.Asp1413Asn) c.4102G>A (p.Asp1368Asn) c.4234G>A (p.Asp1412Asn) n.377G>A n.525G>A n.1026G>A n.360G>A n.439G>A c.4099G>A (p.Asp1367Asn) n.4395G>A | dbSNP |
2 | g.71611600G>C | CA347228829 | DYSF | c.1609G>C (p.Asp537His) c.826G>C (p.Asp276His) c.784G>C (p.Asp262His) c.4141G>C (p.Asp1381His) c.4195G>C (p.Asp1399His) c.4144G>C (p.Asp1382His) c.4192G>C (p.Asp1398His) c.4237G>C (p.Asp1413His) c.4102G>C (p.Asp1368His) c.4234G>C (p.Asp1412His) n.377G>C n.525G>C n.1026G>C n.360G>C n.439G>C c.4099G>C (p.Asp1367His) n.4395G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71611600G= | CA1260124188 | DYSF | c.1609G= (p.Asp537=) c.826G= (p.Asp276=) c.784G= (p.Asp262=) c.4141G= (p.Asp1381=) c.4195G= (p.Asp1399=) c.4144G= (p.Asp1382=) c.4192G= (p.Asp1398=) c.4237G= (p.Asp1413=) c.4102G= (p.Asp1368=) c.4234G= (p.Asp1412=) n.377G= n.525G= n.1026G= n.360G= n.439G= c.4099G= (p.Asp1367=) n.4395G= | |
2 | g.71611600G>T | CA347228827 | DYSF | c.1609G>T (p.Asp537Tyr) c.826G>T (p.Asp276Tyr) c.784G>T (p.Asp262Tyr) c.4141G>T (p.Asp1381Tyr) c.4195G>T (p.Asp1399Tyr) c.4144G>T (p.Asp1382Tyr) c.4192G>T (p.Asp1398Tyr) c.4237G>T (p.Asp1413Tyr) c.4102G>T (p.Asp1368Tyr) c.4234G>T (p.Asp1412Tyr) n.377G>T n.525G>T n.1026G>T n.360G>T n.439G>T c.4099G>T (p.Asp1367Tyr) n.4395G>T | |
2 | g.71611601A>C | CA347228831 | DYSF | c.1610A>C (p.Asp537Ala) c.827A>C (p.Asp276Ala) c.785A>C (p.Asp262Ala) c.4142A>C (p.Asp1381Ala) c.4196A>C (p.Asp1399Ala) c.4145A>C (p.Asp1382Ala) c.4193A>C (p.Asp1398Ala) c.4238A>C (p.Asp1413Ala) c.4103A>C (p.Asp1368Ala) c.4235A>C (p.Asp1412Ala) n.378A>C n.526A>C n.1027A>C n.361A>C n.440A>C c.4100A>C (p.Asp1367Ala) n.4396A>C | |
2 | g.71611601A>G | CA347228837 | DYSF | c.1610A>G (p.Asp537Gly) c.827A>G (p.Asp276Gly) c.785A>G (p.Asp262Gly) c.4142A>G (p.Asp1381Gly) c.4196A>G (p.Asp1399Gly) c.4145A>G (p.Asp1382Gly) c.4193A>G (p.Asp1398Gly) c.4238A>G (p.Asp1413Gly) c.4103A>G (p.Asp1368Gly) c.4235A>G (p.Asp1412Gly) n.378A>G n.526A>G n.1027A>G n.361A>G n.440A>G c.4100A>G (p.Asp1367Gly) n.4396A>G | |
2 | g.71611601A>T | CA347228834 | DYSF | c.1610A>T (p.Asp537Val) c.827A>T (p.Asp276Val) c.785A>T (p.Asp262Val) c.4142A>T (p.Asp1381Val) c.4196A>T (p.Asp1399Val) c.4145A>T (p.Asp1382Val) c.4193A>T (p.Asp1398Val) c.4238A>T (p.Asp1413Val) c.4103A>T (p.Asp1368Val) c.4235A>T (p.Asp1412Val) n.378A>T n.526A>T n.1027A>T n.361A>T n.440A>T c.4100A>T (p.Asp1367Val) n.4396A>T | |
2 | g.71611602C>A | CA347228839 | DYSF | c.1611C>A (p.Asp537Glu) c.828C>A (p.Asp276Glu) c.786C>A (p.Asp262Glu) c.4143C>A (p.Asp1381Glu) c.4197C>A (p.Asp1399Glu) c.4146C>A (p.Asp1382Glu) c.4194C>A (p.Asp1398Glu) c.4239C>A (p.Asp1413Glu) c.4104C>A (p.Asp1368Glu) c.4236C>A (p.Asp1412Glu) n.379C>A n.527C>A n.1028C>A n.362C>A n.441C>A c.4101C>A (p.Asp1367Glu) n.4397C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611602C= | CA1260124189 | DYSF | c.1611C= (p.Asp537=) c.828C= (p.Asp276=) c.786C= (p.Asp262=) c.4143C= (p.Asp1381=) c.4197C= (p.Asp1399=) c.4146C= (p.Asp1382=) c.4194C= (p.Asp1398=) c.4239C= (p.Asp1413=) c.4104C= (p.Asp1368=) c.4236C= (p.Asp1412=) n.379C= n.527C= n.1028C= n.362C= n.441C= c.4101C= (p.Asp1367=) n.4397C= | |
2 | g.71611602C>G | CA347228842 | DYSF | c.1611C>G (p.Asp537Glu) c.828C>G (p.Asp276Glu) c.786C>G (p.Asp262Glu) c.4143C>G (p.Asp1381Glu) c.4197C>G (p.Asp1399Glu) c.4146C>G (p.Asp1382Glu) c.4194C>G (p.Asp1398Glu) c.4239C>G (p.Asp1413Glu) c.4104C>G (p.Asp1368Glu) c.4236C>G (p.Asp1412Glu) n.379C>G n.527C>G n.1028C>G n.362C>G n.441C>G c.4101C>G (p.Asp1367Glu) n.4397C>G | |
2 | g.71611602C>T | CA426758810 | DYSF | c.1611C>T (p.Asp537=) c.828C>T (p.Asp276=) c.786C>T (p.Asp262=) c.4143C>T (p.Asp1381=) c.4197C>T (p.Asp1399=) c.4146C>T (p.Asp1382=) c.4194C>T (p.Asp1398=) c.4239C>T (p.Asp1413=) c.4104C>T (p.Asp1368=) c.4236C>T (p.Asp1412=) n.379C>T n.527C>T n.1028C>T n.362C>T n.441C>T c.4101C>T (p.Asp1367=) n.4397C>T | ClinVar |
2 | g.71611603A= | CA1260124190 | DYSF | c.1612A= (p.Ile538=) c.829A= (p.Ile277=) c.787A= (p.Ile263=) c.4144A= (p.Ile1382=) c.4198A= (p.Ile1400=) c.4147A= (p.Ile1383=) c.4195A= (p.Ile1399=) c.4240A= (p.Ile1414=) c.4105A= (p.Ile1369=) c.4237A= (p.Ile1413=) n.380A= n.528A= n.1029A= n.363A= n.442A= c.4102A= (p.Ile1368=) n.4398A= | |
2 | g.71611603A>C | CA347228847 | DYSF | c.1612A>C (p.Ile538Leu) c.829A>C (p.Ile277Leu) c.787A>C (p.Ile263Leu) c.4144A>C (p.Ile1382Leu) c.4198A>C (p.Ile1400Leu) c.4147A>C (p.Ile1383Leu) c.4195A>C (p.Ile1399Leu) c.4240A>C (p.Ile1414Leu) c.4105A>C (p.Ile1369Leu) c.4237A>C (p.Ile1413Leu) n.380A>C n.528A>C n.1029A>C n.363A>C n.442A>C c.4102A>C (p.Ile1368Leu) n.4398A>C | |
2 | g.71611603A>G | CA347228849 | DYSF | c.1612A>G (p.Ile538Val) c.829A>G (p.Ile277Val) c.787A>G (p.Ile263Val) c.4144A>G (p.Ile1382Val) c.4198A>G (p.Ile1400Val) c.4147A>G (p.Ile1383Val) c.4195A>G (p.Ile1399Val) c.4240A>G (p.Ile1414Val) c.4105A>G (p.Ile1369Val) c.4237A>G (p.Ile1413Val) n.380A>G n.528A>G n.1029A>G n.363A>G n.442A>G c.4102A>G (p.Ile1368Val) n.4398A>G | dbSNP gnomAD v4 |
2 | g.71611603A>T | CA347228850 | DYSF | c.1612A>T (p.Ile538Phe) c.829A>T (p.Ile277Phe) c.787A>T (p.Ile263Phe) c.4144A>T (p.Ile1382Phe) c.4198A>T (p.Ile1400Phe) c.4147A>T (p.Ile1383Phe) c.4195A>T (p.Ile1399Phe) c.4240A>T (p.Ile1414Phe) c.4105A>T (p.Ile1369Phe) c.4237A>T (p.Ile1413Phe) n.380A>T n.528A>T n.1029A>T n.363A>T n.442A>T c.4102A>T (p.Ile1368Phe) n.4398A>T | |
2 | g.71611604T>A | CA347228853 | DYSF | c.1613T>A (p.Ile538Asn) c.830T>A (p.Ile277Asn) c.788T>A (p.Ile263Asn) c.4145T>A (p.Ile1382Asn) c.4199T>A (p.Ile1400Asn) c.4148T>A (p.Ile1383Asn) c.4196T>A (p.Ile1399Asn) c.4241T>A (p.Ile1414Asn) c.4106T>A (p.Ile1369Asn) c.4238T>A (p.Ile1413Asn) n.381T>A n.529T>A n.1030T>A n.364T>A n.443T>A c.4103T>A (p.Ile1368Asn) n.4399T>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611604T>C | CA1706916 | DYSF | c.1613T>C (p.Ile538Thr) c.830T>C (p.Ile277Thr) c.788T>C (p.Ile263Thr) c.4145T>C (p.Ile1382Thr) c.4199T>C (p.Ile1400Thr) c.4148T>C (p.Ile1383Thr) c.4196T>C (p.Ile1399Thr) c.4241T>C (p.Ile1414Thr) c.4106T>C (p.Ile1369Thr) c.4238T>C (p.Ile1413Thr) n.381T>C n.529T>C n.1030T>C n.364T>C n.443T>C c.4103T>C (p.Ile1368Thr) n.4399T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611604T>G | CA347228857 | DYSF | c.1613T>G (p.Ile538Ser) c.830T>G (p.Ile277Ser) c.788T>G (p.Ile263Ser) c.4145T>G (p.Ile1382Ser) c.4199T>G (p.Ile1400Ser) c.4148T>G (p.Ile1383Ser) c.4196T>G (p.Ile1399Ser) c.4241T>G (p.Ile1414Ser) c.4106T>G (p.Ile1369Ser) c.4238T>G (p.Ile1413Ser) n.381T>G n.529T>G n.1030T>G n.364T>G n.443T>G c.4103T>G (p.Ile1368Ser) n.4399T>G | |
2 | g.71611604T= | CA1260124191 | DYSF | c.1613T= (p.Ile538=) c.830T= (p.Ile277=) c.788T= (p.Ile263=) c.4145T= (p.Ile1382=) c.4199T= (p.Ile1400=) c.4148T= (p.Ile1383=) c.4196T= (p.Ile1399=) c.4241T= (p.Ile1414=) c.4106T= (p.Ile1369=) c.4238T= (p.Ile1413=) n.381T= n.529T= n.1030T= n.364T= n.443T= c.4103T= (p.Ile1368=) n.4399T= | |
2 | g.71611605C>A | CA426758815 | DYSF | c.1614C>A (p.Ile538=) c.831C>A (p.Ile277=) c.789C>A (p.Ile263=) c.4146C>A (p.Ile1382=) c.4200C>A (p.Ile1400=) c.4149C>A (p.Ile1383=) c.4197C>A (p.Ile1399=) c.4242C>A (p.Ile1414=) c.4107C>A (p.Ile1369=) c.4239C>A (p.Ile1413=) n.382C>A n.530C>A n.1031C>A n.365C>A n.444C>A c.4104C>A (p.Ile1368=) n.4400C>A | gnomAD v4 |
2 | g.71611605C= | CA1260124192 | DYSF | c.1614C= (p.Ile538=) c.831C= (p.Ile277=) c.789C= (p.Ile263=) c.4146C= (p.Ile1382=) c.4200C= (p.Ile1400=) c.4149C= (p.Ile1383=) c.4197C= (p.Ile1399=) c.4242C= (p.Ile1414=) c.4107C= (p.Ile1369=) c.4239C= (p.Ile1413=) n.382C= n.530C= n.1031C= n.365C= n.444C= c.4104C= (p.Ile1368=) n.4400C= | |
2 | g.71611605C>G | CA347228860 | DYSF | c.1614C>G (p.Ile538Met) c.831C>G (p.Ile277Met) c.789C>G (p.Ile263Met) c.4146C>G (p.Ile1382Met) c.4200C>G (p.Ile1400Met) c.4149C>G (p.Ile1383Met) c.4197C>G (p.Ile1399Met) c.4242C>G (p.Ile1414Met) c.4107C>G (p.Ile1369Met) c.4239C>G (p.Ile1413Met) n.382C>G n.530C>G n.1031C>G n.365C>G n.444C>G c.4104C>G (p.Ile1368Met) n.4400C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611605C>T | CA426758817 | DYSF | c.1614C>T (p.Ile538=) c.831C>T (p.Ile277=) c.789C>T (p.Ile263=) c.4146C>T (p.Ile1382=) c.4200C>T (p.Ile1400=) c.4149C>T (p.Ile1383=) c.4197C>T (p.Ile1399=) c.4242C>T (p.Ile1414=) c.4107C>T (p.Ile1369=) c.4239C>T (p.Ile1413=) n.382C>T n.530C>T n.1031C>T n.365C>T n.444C>T c.4104C>T (p.Ile1368=) n.4400C>T | ClinVar |
2 | g.71611606T>A | CA347228862 | DYSF | c.1615T>A (p.Cys539Ser) c.832T>A (p.Cys278Ser) c.790T>A (p.Cys264Ser) c.4147T>A (p.Cys1383Ser) c.4201T>A (p.Cys1401Ser) c.4150T>A (p.Cys1384Ser) c.4198T>A (p.Cys1400Ser) c.4243T>A (p.Cys1415Ser) c.4108T>A (p.Cys1370Ser) c.4240T>A (p.Cys1414Ser) n.383T>A n.531T>A n.1032T>A n.366T>A n.445T>A c.4105T>A (p.Cys1369Ser) n.4401T>A | |
2 | g.71611606T>C | CA347228865 | DYSF | c.1615T>C (p.Cys539Arg) c.832T>C (p.Cys278Arg) c.790T>C (p.Cys264Arg) c.4147T>C (p.Cys1383Arg) c.4201T>C (p.Cys1401Arg) c.4150T>C (p.Cys1384Arg) c.4198T>C (p.Cys1400Arg) c.4243T>C (p.Cys1415Arg) c.4108T>C (p.Cys1370Arg) c.4240T>C (p.Cys1414Arg) n.383T>C n.531T>C n.1032T>C n.366T>C n.445T>C c.4105T>C (p.Cys1369Arg) n.4401T>C | |
2 | g.71611606T>G | CA347228867 | DYSF | c.1615T>G (p.Cys539Gly) c.832T>G (p.Cys278Gly) c.790T>G (p.Cys264Gly) c.4147T>G (p.Cys1383Gly) c.4201T>G (p.Cys1401Gly) c.4150T>G (p.Cys1384Gly) c.4198T>G (p.Cys1400Gly) c.4243T>G (p.Cys1415Gly) c.4108T>G (p.Cys1370Gly) c.4240T>G (p.Cys1414Gly) n.383T>G n.531T>G n.1032T>G n.366T>G n.445T>G c.4105T>G (p.Cys1369Gly) n.4401T>G | |
2 | g.71611607G>A | CA347228871 | DYSF | c.1616G>A (p.Cys539Tyr) c.833G>A (p.Cys278Tyr) c.791G>A (p.Cys264Tyr) c.4148G>A (p.Cys1383Tyr) c.4202G>A (p.Cys1401Tyr) c.4151G>A (p.Cys1384Tyr) c.4199G>A (p.Cys1400Tyr) c.4244G>A (p.Cys1415Tyr) c.4109G>A (p.Cys1370Tyr) c.4241G>A (p.Cys1414Tyr) n.384G>A n.532G>A n.1033G>A n.367G>A n.446G>A c.4106G>A (p.Cys1369Tyr) n.4402G>A | dbSNP |
2 | g.71611607G>C | CA347228872 | DYSF | c.1616G>C (p.Cys539Ser) c.833G>C (p.Cys278Ser) c.791G>C (p.Cys264Ser) c.4148G>C (p.Cys1383Ser) c.4202G>C (p.Cys1401Ser) c.4151G>C (p.Cys1384Ser) c.4199G>C (p.Cys1400Ser) c.4244G>C (p.Cys1415Ser) c.4109G>C (p.Cys1370Ser) c.4241G>C (p.Cys1414Ser) n.384G>C n.532G>C n.1033G>C n.367G>C n.446G>C c.4106G>C (p.Cys1369Ser) n.4402G>C | gnomAD v4 |
2 | g.71611607G= | CA1260124193 | DYSF | c.1616G= (p.Cys539=) c.833G= (p.Cys278=) c.791G= (p.Cys264=) c.4148G= (p.Cys1383=) c.4202G= (p.Cys1401=) c.4151G= (p.Cys1384=) c.4199G= (p.Cys1400=) c.4244G= (p.Cys1415=) c.4109G= (p.Cys1370=) c.4241G= (p.Cys1414=) n.384G= n.532G= n.1033G= n.367G= n.446G= c.4106G= (p.Cys1369=) n.4402G= | |
2 | g.71611607G>T | CA347228874 | DYSF | c.1616G>T (p.Cys539Phe) c.833G>T (p.Cys278Phe) c.791G>T (p.Cys264Phe) c.4148G>T (p.Cys1383Phe) c.4202G>T (p.Cys1401Phe) c.4151G>T (p.Cys1384Phe) c.4199G>T (p.Cys1400Phe) c.4244G>T (p.Cys1415Phe) c.4109G>T (p.Cys1370Phe) c.4241G>T (p.Cys1414Phe) n.384G>T n.532G>T n.1033G>T n.367G>T n.446G>T c.4106G>T (p.Cys1369Phe) n.4402G>T | |
2 | g.71611608C>A | CA347228875 | DYSF | c.1617C>A (p.Cys539Ter) c.834C>A (p.Cys278Ter) c.792C>A (p.Cys264Ter) c.4149C>A (p.Cys1383Ter) c.4203C>A (p.Cys1401Ter) c.4152C>A (p.Cys1384Ter) c.4200C>A (p.Cys1400Ter) c.4245C>A (p.Cys1415Ter) c.4110C>A (p.Cys1370Ter) c.4242C>A (p.Cys1414Ter) n.385C>A n.533C>A n.1034C>A n.368C>A n.447C>A c.4107C>A (p.Cys1369Ter) n.4403C>A | |
2 | g.71611608C= | CA1260124194 | DYSF | c.1617C= (p.Cys539=) c.834C= (p.Cys278=) c.792C= (p.Cys264=) c.4149C= (p.Cys1383=) c.4203C= (p.Cys1401=) c.4152C= (p.Cys1384=) c.4200C= (p.Cys1400=) c.4245C= (p.Cys1415=) c.4110C= (p.Cys1370=) c.4242C= (p.Cys1414=) n.385C= n.533C= n.1034C= n.368C= n.447C= c.4107C= (p.Cys1369=) n.4403C= | |
2 | g.71611608C>G | CA347228877 | DYSF | c.1617C>G (p.Cys539Trp) c.834C>G (p.Cys278Trp) c.792C>G (p.Cys264Trp) c.4149C>G (p.Cys1383Trp) c.4203C>G (p.Cys1401Trp) c.4152C>G (p.Cys1384Trp) c.4200C>G (p.Cys1400Trp) c.4245C>G (p.Cys1415Trp) c.4110C>G (p.Cys1370Trp) c.4242C>G (p.Cys1414Trp) n.385C>G n.533C>G n.1034C>G n.368C>G n.447C>G c.4107C>G (p.Cys1369Trp) n.4403C>G | |
2 | g.71611608C>T | CA426758830 | DYSF | c.1617C>T (p.Cys539=) c.834C>T (p.Cys278=) c.792C>T (p.Cys264=) c.4149C>T (p.Cys1383=) c.4203C>T (p.Cys1401=) c.4152C>T (p.Cys1384=) c.4200C>T (p.Cys1400=) c.4245C>T (p.Cys1415=) c.4110C>T (p.Cys1370=) c.4242C>T (p.Cys1414=) n.385C>T n.533C>T n.1034C>T n.368C>T n.447C>T c.4107C>T (p.Cys1369=) n.4403C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611609A>C | CA347228881 | DYSF | c.1618A>C (p.Thr540Pro) c.835A>C (p.Thr279Pro) c.793A>C (p.Thr265Pro) c.4150A>C (p.Thr1384Pro) c.4204A>C (p.Thr1402Pro) c.4153A>C (p.Thr1385Pro) c.4201A>C (p.Thr1401Pro) c.4246A>C (p.Thr1416Pro) c.4111A>C (p.Thr1371Pro) c.4243A>C (p.Thr1415Pro) n.386A>C n.534A>C n.1035A>C n.369A>C n.448A>C c.4108A>C (p.Thr1370Pro) n.4404A>C | |
2 | g.71611609A>G | CA347228883 | DYSF | c.1618A>G (p.Thr540Ala) c.835A>G (p.Thr279Ala) c.793A>G (p.Thr265Ala) c.4150A>G (p.Thr1384Ala) c.4204A>G (p.Thr1402Ala) c.4153A>G (p.Thr1385Ala) c.4201A>G (p.Thr1401Ala) c.4246A>G (p.Thr1416Ala) c.4111A>G (p.Thr1371Ala) c.4243A>G (p.Thr1415Ala) n.386A>G n.534A>G n.1035A>G n.369A>G n.448A>G c.4108A>G (p.Thr1370Ala) n.4404A>G | |
2 | g.71611609A>T | CA347228885 | DYSF | c.1618A>T (p.Thr540Ser) c.835A>T (p.Thr279Ser) c.793A>T (p.Thr265Ser) c.4150A>T (p.Thr1384Ser) c.4204A>T (p.Thr1402Ser) c.4153A>T (p.Thr1385Ser) c.4201A>T (p.Thr1401Ser) c.4246A>T (p.Thr1416Ser) c.4111A>T (p.Thr1371Ser) c.4243A>T (p.Thr1415Ser) n.386A>T n.534A>T n.1035A>T n.369A>T n.448A>T c.4108A>T (p.Thr1370Ser) n.4404A>T | |
2 | g.71611610C>A | CA347228888 | DYSF | c.1619C>A (p.Thr540Asn) c.836C>A (p.Thr279Asn) c.794C>A (p.Thr265Asn) c.4151C>A (p.Thr1384Asn) c.4205C>A (p.Thr1402Asn) c.4154C>A (p.Thr1385Asn) c.4202C>A (p.Thr1401Asn) c.4247C>A (p.Thr1416Asn) c.4112C>A (p.Thr1371Asn) c.4244C>A (p.Thr1415Asn) n.387C>A n.535C>A n.1036C>A n.370C>A n.449C>A c.4109C>A (p.Thr1370Asn) n.4405C>A | gnomAD v4 |
2 | g.71611610C>G | CA347228890 | DYSF | c.1619C>G (p.Thr540Ser) c.836C>G (p.Thr279Ser) c.794C>G (p.Thr265Ser) c.4151C>G (p.Thr1384Ser) c.4205C>G (p.Thr1402Ser) c.4154C>G (p.Thr1385Ser) c.4202C>G (p.Thr1401Ser) c.4247C>G (p.Thr1416Ser) c.4112C>G (p.Thr1371Ser) c.4244C>G (p.Thr1415Ser) n.387C>G n.535C>G n.1036C>G n.370C>G n.449C>G c.4109C>G (p.Thr1370Ser) n.4405C>G | |
2 | g.71611610C>T | CA347228892 | DYSF | c.1619C>T (p.Thr540Ile) c.836C>T (p.Thr279Ile) c.794C>T (p.Thr265Ile) c.4151C>T (p.Thr1384Ile) c.4205C>T (p.Thr1402Ile) c.4154C>T (p.Thr1385Ile) c.4202C>T (p.Thr1401Ile) c.4247C>T (p.Thr1416Ile) c.4112C>T (p.Thr1371Ile) c.4244C>T (p.Thr1415Ile) n.387C>T n.535C>T n.1036C>T n.370C>T n.449C>T c.4109C>T (p.Thr1370Ile) n.4405C>T | |
2 | g.71611611C>A | CA426758835 | DYSF | c.1620C>A (p.Thr540=) c.837C>A (p.Thr279=) c.795C>A (p.Thr265=) c.4152C>A (p.Thr1384=) c.4206C>A (p.Thr1402=) c.4155C>A (p.Thr1385=) c.4203C>A (p.Thr1401=) c.4248C>A (p.Thr1416=) c.4113C>A (p.Thr1371=) c.4245C>A (p.Thr1415=) n.388C>A n.536C>A n.1037C>A n.371C>A n.450C>A c.4110C>A (p.Thr1370=) n.4406C>A | |
2 | g.71611611C>G | CA426758837 | DYSF | c.1620C>G (p.Thr540=) c.837C>G (p.Thr279=) c.795C>G (p.Thr265=) c.4152C>G (p.Thr1384=) c.4206C>G (p.Thr1402=) c.4155C>G (p.Thr1385=) c.4203C>G (p.Thr1401=) c.4248C>G (p.Thr1416=) c.4113C>G (p.Thr1371=) c.4245C>G (p.Thr1415=) n.388C>G n.536C>G n.1037C>G n.371C>G n.450C>G c.4110C>G (p.Thr1370=) n.4406C>G | |
2 | g.71611611C>T | CA426758839 | DYSF | c.1620C>T (p.Thr540=) c.837C>T (p.Thr279=) c.795C>T (p.Thr265=) c.4152C>T (p.Thr1384=) c.4206C>T (p.Thr1402=) c.4155C>T (p.Thr1385=) c.4203C>T (p.Thr1401=) c.4248C>T (p.Thr1416=) c.4113C>T (p.Thr1371=) c.4245C>T (p.Thr1415=) n.388C>T n.536C>T n.1037C>T n.371C>T n.450C>T c.4110C>T (p.Thr1370=) n.4406C>T | ClinVar dbSNP gnomAD v4 |
2 | g.71611612C>A | CA347228895 | DYSF | c.1621C>A (p.Leu541Ile) c.838C>A (p.Leu280Ile) c.796C>A (p.Leu266Ile) c.4153C>A (p.Leu1385Ile) c.4207C>A (p.Leu1403Ile) c.4156C>A (p.Leu1386Ile) c.4204C>A (p.Leu1402Ile) c.4249C>A (p.Leu1417Ile) c.4114C>A (p.Leu1372Ile) c.4246C>A (p.Leu1416Ile) n.389C>A n.537C>A n.1038C>A n.372C>A n.451C>A c.4111C>A (p.Leu1371Ile) n.4407C>A | |
2 | g.71611612C= | CA1260124195 | DYSF | c.1621C= (p.Leu541=) c.838C= (p.Leu280=) c.796C= (p.Leu266=) c.4153C= (p.Leu1385=) c.4207C= (p.Leu1403=) c.4156C= (p.Leu1386=) c.4204C= (p.Leu1402=) c.4249C= (p.Leu1417=) c.4114C= (p.Leu1372=) c.4246C= (p.Leu1416=) n.389C= n.537C= n.1038C= n.372C= n.451C= c.4111C= (p.Leu1371=) n.4407C= | |
2 | g.71611612C>G | CA347228896 | DYSF | c.1621C>G (p.Leu541Val) c.838C>G (p.Leu280Val) c.796C>G (p.Leu266Val) c.4153C>G (p.Leu1385Val) c.4207C>G (p.Leu1403Val) c.4156C>G (p.Leu1386Val) c.4204C>G (p.Leu1402Val) c.4249C>G (p.Leu1417Val) c.4114C>G (p.Leu1372Val) c.4246C>G (p.Leu1416Val) n.389C>G n.537C>G n.1038C>G n.372C>G n.451C>G c.4111C>G (p.Leu1371Val) n.4407C>G | |
2 | g.71611612C>T | CA347228899 | DYSF | c.1621C>T (p.Leu541Phe) c.838C>T (p.Leu280Phe) c.796C>T (p.Leu266Phe) c.4153C>T (p.Leu1385Phe) c.4207C>T (p.Leu1403Phe) c.4156C>T (p.Leu1386Phe) c.4204C>T (p.Leu1402Phe) c.4249C>T (p.Leu1417Phe) c.4114C>T (p.Leu1372Phe) c.4246C>T (p.Leu1416Phe) n.389C>T n.537C>T n.1038C>T n.372C>T n.451C>T c.4111C>T (p.Leu1371Phe) n.4407C>T | dbSNP gnomAD v4 |
2 | g.71611613T>A | CA347228901 | DYSF | c.1622T>A (p.Leu541His) c.839T>A (p.Leu280His) c.797T>A (p.Leu266His) c.4154T>A (p.Leu1385His) c.4208T>A (p.Leu1403His) c.4157T>A (p.Leu1386His) c.4205T>A (p.Leu1402His) c.4250T>A (p.Leu1417His) c.4115T>A (p.Leu1372His) c.4247T>A (p.Leu1416His) n.390T>A n.538T>A n.1039T>A n.373T>A n.452T>A c.4112T>A (p.Leu1371His) n.4408T>A | |
2 | g.71611613T>C | CA347228904 | DYSF | c.1622T>C (p.Leu541Pro) c.839T>C (p.Leu280Pro) c.797T>C (p.Leu266Pro) c.4154T>C (p.Leu1385Pro) c.4208T>C (p.Leu1403Pro) c.4157T>C (p.Leu1386Pro) c.4205T>C (p.Leu1402Pro) c.4250T>C (p.Leu1417Pro) c.4115T>C (p.Leu1372Pro) c.4247T>C (p.Leu1416Pro) n.390T>C n.538T>C n.1039T>C n.373T>C n.452T>C c.4112T>C (p.Leu1371Pro) n.4408T>C | |
2 | g.71611613T>G | CA347228906 | DYSF | c.1622T>G (p.Leu541Arg) c.839T>G (p.Leu280Arg) c.797T>G (p.Leu266Arg) c.4154T>G (p.Leu1385Arg) c.4208T>G (p.Leu1403Arg) c.4157T>G (p.Leu1386Arg) c.4205T>G (p.Leu1402Arg) c.4250T>G (p.Leu1417Arg) c.4115T>G (p.Leu1372Arg) c.4247T>G (p.Leu1416Arg) n.390T>G n.538T>G n.1039T>G n.373T>G n.452T>G c.4112T>G (p.Leu1371Arg) n.4408T>G | |
2 | g.71611614C>A | CA426758849 | DYSF | c.1623C>A (p.Leu541=) c.840C>A (p.Leu280=) c.798C>A (p.Leu266=) c.4155C>A (p.Leu1385=) c.4209C>A (p.Leu1403=) c.4158C>A (p.Leu1386=) c.4206C>A (p.Leu1402=) c.4251C>A (p.Leu1417=) c.4116C>A (p.Leu1372=) c.4248C>A (p.Leu1416=) n.391C>A n.539C>A n.1040C>A n.374C>A n.453C>A c.4113C>A (p.Leu1371=) n.4409C>A | |
2 | g.71611614C>G | CA426758845 | DYSF | c.1623C>G (p.Leu541=) c.840C>G (p.Leu280=) c.798C>G (p.Leu266=) c.4155C>G (p.Leu1385=) c.4209C>G (p.Leu1403=) c.4158C>G (p.Leu1386=) c.4206C>G (p.Leu1402=) c.4251C>G (p.Leu1417=) c.4116C>G (p.Leu1372=) c.4248C>G (p.Leu1416=) n.391C>G n.539C>G n.1040C>G n.374C>G n.453C>G c.4113C>G (p.Leu1371=) n.4409C>G | |
2 | g.71611614C>T | CA426758848 | DYSF | c.1623C>T (p.Leu541=) c.840C>T (p.Leu280=) c.798C>T (p.Leu266=) c.4155C>T (p.Leu1385=) c.4209C>T (p.Leu1403=) c.4158C>T (p.Leu1386=) c.4206C>T (p.Leu1402=) c.4251C>T (p.Leu1417=) c.4116C>T (p.Leu1372=) c.4248C>T (p.Leu1416=) n.391C>T n.539C>T n.1040C>T n.374C>T n.453C>T c.4113C>T (p.Leu1371=) n.4409C>T | |
2 | g.71611615T>A | CA347228909 | DYSF | c.1624T>A (p.Phe542Ile) c.841T>A (p.Phe281Ile) c.799T>A (p.Phe267Ile) c.4156T>A (p.Phe1386Ile) c.4210T>A (p.Phe1404Ile) c.4159T>A (p.Phe1387Ile) c.4207T>A (p.Phe1403Ile) c.4252T>A (p.Phe1418Ile) c.4117T>A (p.Phe1373Ile) c.4249T>A (p.Phe1417Ile) n.392T>A n.540T>A n.1041T>A n.375T>A n.454T>A c.4114T>A (p.Phe1372Ile) n.4410T>A | |
2 | g.71611615T>C | CA347228913 | DYSF | c.1624T>C (p.Phe542Leu) c.841T>C (p.Phe281Leu) c.799T>C (p.Phe267Leu) c.4156T>C (p.Phe1386Leu) c.4210T>C (p.Phe1404Leu) c.4159T>C (p.Phe1387Leu) c.4207T>C (p.Phe1403Leu) c.4252T>C (p.Phe1418Leu) c.4117T>C (p.Phe1373Leu) c.4249T>C (p.Phe1417Leu) n.392T>C n.540T>C n.1041T>C n.375T>C n.454T>C c.4114T>C (p.Phe1372Leu) n.4410T>C | |
2 | g.71611615T>G | CA347228911 | DYSF | c.1624T>G (p.Phe542Val) c.841T>G (p.Phe281Val) c.799T>G (p.Phe267Val) c.4156T>G (p.Phe1386Val) c.4210T>G (p.Phe1404Val) c.4159T>G (p.Phe1387Val) c.4207T>G (p.Phe1403Val) c.4252T>G (p.Phe1418Val) c.4117T>G (p.Phe1373Val) c.4249T>G (p.Phe1417Val) n.392T>G n.540T>G n.1041T>G n.375T>G n.454T>G c.4114T>G (p.Phe1372Val) n.4410T>G | |
2 | g.71611616T>A | CA347228917 | DYSF | c.1625T>A (p.Phe542Tyr) c.842T>A (p.Phe281Tyr) c.800T>A (p.Phe267Tyr) c.4157T>A (p.Phe1386Tyr) c.4211T>A (p.Phe1404Tyr) c.4160T>A (p.Phe1387Tyr) c.4208T>A (p.Phe1403Tyr) c.4253T>A (p.Phe1418Tyr) c.4118T>A (p.Phe1373Tyr) c.4250T>A (p.Phe1417Tyr) n.393T>A n.541T>A n.1042T>A n.376T>A n.455T>A c.4115T>A (p.Phe1372Tyr) n.4411T>A | |
2 | g.71611616T>C | CA347228920 | DYSF | c.1625T>C (p.Phe542Ser) c.842T>C (p.Phe281Ser) c.800T>C (p.Phe267Ser) c.4157T>C (p.Phe1386Ser) c.4211T>C (p.Phe1404Ser) c.4160T>C (p.Phe1387Ser) c.4208T>C (p.Phe1403Ser) c.4253T>C (p.Phe1418Ser) c.4118T>C (p.Phe1373Ser) c.4250T>C (p.Phe1417Ser) n.393T>C n.541T>C n.1042T>C n.376T>C n.455T>C c.4115T>C (p.Phe1372Ser) n.4411T>C | |
2 | g.71611616T>G | CA347228921 | DYSF | c.1625T>G (p.Phe542Cys) c.842T>G (p.Phe281Cys) c.800T>G (p.Phe267Cys) c.4157T>G (p.Phe1386Cys) c.4211T>G (p.Phe1404Cys) c.4160T>G (p.Phe1387Cys) c.4208T>G (p.Phe1403Cys) c.4253T>G (p.Phe1418Cys) c.4118T>G (p.Phe1373Cys) c.4250T>G (p.Phe1417Cys) n.393T>G n.541T>G n.1042T>G n.376T>G n.455T>G c.4115T>G (p.Phe1372Cys) n.4411T>G | |
2 | g.71611617C>A | CA347228925 | DYSF | c.1626C>A (p.Phe542Leu) c.843C>A (p.Phe281Leu) c.801C>A (p.Phe267Leu) c.4158C>A (p.Phe1386Leu) c.4212C>A (p.Phe1404Leu) c.4161C>A (p.Phe1387Leu) c.4209C>A (p.Phe1403Leu) c.4254C>A (p.Phe1418Leu) c.4119C>A (p.Phe1373Leu) c.4251C>A (p.Phe1417Leu) n.394C>A n.542C>A n.1043C>A n.377C>A n.456C>A c.4116C>A (p.Phe1372Leu) n.4412C>A | |
2 | g.71611617C= | CA1260124196 | DYSF | c.1626C= (p.Phe542=) c.843C= (p.Phe281=) c.801C= (p.Phe267=) c.4158C= (p.Phe1386=) c.4212C= (p.Phe1404=) c.4161C= (p.Phe1387=) c.4209C= (p.Phe1403=) c.4254C= (p.Phe1418=) c.4119C= (p.Phe1373=) c.4251C= (p.Phe1417=) n.394C= n.542C= n.1043C= n.377C= n.456C= c.4116C= (p.Phe1372=) n.4412C= | |
2 | g.71611617C>G | CA347228928 | DYSF | c.1626C>G (p.Phe542Leu) c.843C>G (p.Phe281Leu) c.801C>G (p.Phe267Leu) c.4158C>G (p.Phe1386Leu) c.4212C>G (p.Phe1404Leu) c.4161C>G (p.Phe1387Leu) c.4209C>G (p.Phe1403Leu) c.4254C>G (p.Phe1418Leu) c.4119C>G (p.Phe1373Leu) c.4251C>G (p.Phe1417Leu) n.394C>G n.542C>G n.1043C>G n.377C>G n.456C>G c.4116C>G (p.Phe1372Leu) n.4412C>G | |
2 | g.71611617C>T | CA1706917 | DYSF | c.1626C>T (p.Phe542=) c.843C>T (p.Phe281=) c.801C>T (p.Phe267=) c.4158C>T (p.Phe1386=) c.4212C>T (p.Phe1404=) c.4161C>T (p.Phe1387=) c.4209C>T (p.Phe1403=) c.4254C>T (p.Phe1418=) c.4119C>T (p.Phe1373=) c.4251C>T (p.Phe1417=) n.394C>T n.542C>T n.1043C>T n.377C>T n.456C>T c.4116C>T (p.Phe1372=) n.4412C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611618A= | CA1260124197 | DYSF | c.1627A= (p.Met543=) c.844A= (p.Met282=) c.802A= (p.Met268=) c.4159A= (p.Met1387=) c.4213A= (p.Met1405=) c.4162A= (p.Met1388=) c.4210A= (p.Met1404=) c.4255A= (p.Met1419=) c.4120A= (p.Met1374=) c.4252A= (p.Met1418=) n.395A= n.543A= n.1044A= n.378A= n.457A= c.4117A= (p.Met1373=) n.4413A= | |
2 | g.71611618A>C | CA1706918 | DYSF | c.1627A>C (p.Met543Leu) c.844A>C (p.Met282Leu) c.802A>C (p.Met268Leu) c.4159A>C (p.Met1387Leu) c.4213A>C (p.Met1405Leu) c.4162A>C (p.Met1388Leu) c.4210A>C (p.Met1404Leu) c.4255A>C (p.Met1419Leu) c.4120A>C (p.Met1374Leu) c.4252A>C (p.Met1418Leu) n.395A>C n.543A>C n.1044A>C n.378A>C n.457A>C c.4117A>C (p.Met1373Leu) n.4413A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611618A>G | CA49779135 | DYSF | c.1627A>G (p.Met543Val) c.844A>G (p.Met282Val) c.802A>G (p.Met268Val) c.4159A>G (p.Met1387Val) c.4213A>G (p.Met1405Val) c.4162A>G (p.Met1388Val) c.4210A>G (p.Met1404Val) c.4255A>G (p.Met1419Val) c.4120A>G (p.Met1374Val) c.4252A>G (p.Met1418Val) n.395A>G n.543A>G n.1044A>G n.378A>G n.457A>G c.4117A>G (p.Met1373Val) n.4413A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611618A>T | CA347228936 | DYSF | c.1627A>T (p.Met543Leu) c.844A>T (p.Met282Leu) c.802A>T (p.Met268Leu) c.4159A>T (p.Met1387Leu) c.4213A>T (p.Met1405Leu) c.4162A>T (p.Met1388Leu) c.4210A>T (p.Met1404Leu) c.4255A>T (p.Met1419Leu) c.4120A>T (p.Met1374Leu) c.4252A>T (p.Met1418Leu) n.395A>T n.543A>T n.1044A>T n.378A>T n.457A>T c.4117A>T (p.Met1373Leu) n.4413A>T | |
2 | g.71611619T>A | CA347228938 | DYSF | c.1628T>A (p.Met543Lys) c.845T>A (p.Met282Lys) c.803T>A (p.Met268Lys) c.4160T>A (p.Met1387Lys) c.4214T>A (p.Met1405Lys) c.4163T>A (p.Met1388Lys) c.4211T>A (p.Met1404Lys) c.4256T>A (p.Met1419Lys) c.4121T>A (p.Met1374Lys) c.4253T>A (p.Met1418Lys) n.396T>A n.544T>A n.1045T>A n.379T>A n.458T>A c.4118T>A (p.Met1373Lys) n.4414T>A | |
2 | g.71611619T>C | CA347228941 | DYSF | c.1628T>C (p.Met543Thr) c.845T>C (p.Met282Thr) c.803T>C (p.Met268Thr) c.4160T>C (p.Met1387Thr) c.4214T>C (p.Met1405Thr) c.4163T>C (p.Met1388Thr) c.4211T>C (p.Met1404Thr) c.4256T>C (p.Met1419Thr) c.4121T>C (p.Met1374Thr) c.4253T>C (p.Met1418Thr) n.396T>C n.544T>C n.1045T>C n.379T>C n.458T>C c.4118T>C (p.Met1373Thr) n.4414T>C | dbSNP |
2 | g.71611619T>G | CA347228943 | DYSF | c.1628T>G (p.Met543Arg) c.845T>G (p.Met282Arg) c.803T>G (p.Met268Arg) c.4160T>G (p.Met1387Arg) c.4214T>G (p.Met1405Arg) c.4163T>G (p.Met1388Arg) c.4211T>G (p.Met1404Arg) c.4256T>G (p.Met1419Arg) c.4121T>G (p.Met1374Arg) c.4253T>G (p.Met1418Arg) n.396T>G n.544T>G n.1045T>G n.379T>G n.458T>G c.4118T>G (p.Met1373Arg) n.4414T>G | |
2 | g.71611619T= | CA1260124198 | DYSF | c.1628T= (p.Met543=) c.845T= (p.Met282=) c.803T= (p.Met268=) c.4160T= (p.Met1387=) c.4214T= (p.Met1405=) c.4163T= (p.Met1388=) c.4211T= (p.Met1404=) c.4256T= (p.Met1419=) c.4121T= (p.Met1374=) c.4253T= (p.Met1418=) n.396T= n.544T= n.1045T= n.379T= n.458T= c.4118T= (p.Met1373=) n.4414T= | |
2 | g.71611620G>A | CA347228950 | DYSF | c.1629G>A (p.Met543Ile) c.846G>A (p.Met282Ile) c.804G>A (p.Met268Ile) c.4161G>A (p.Met1387Ile) c.4215G>A (p.Met1405Ile) c.4164G>A (p.Met1388Ile) c.4212G>A (p.Met1404Ile) c.4257G>A (p.Met1419Ile) c.4122G>A (p.Met1374Ile) c.4254G>A (p.Met1418Ile) n.397G>A n.545G>A n.1046G>A n.380G>A n.459G>A c.4119G>A (p.Met1373Ile) n.4415G>A | |
2 | g.71611620G>C | CA347228946 | DYSF | c.1629G>C (p.Met543Ile) c.846G>C (p.Met282Ile) c.804G>C (p.Met268Ile) c.4161G>C (p.Met1387Ile) c.4215G>C (p.Met1405Ile) c.4164G>C (p.Met1388Ile) c.4212G>C (p.Met1404Ile) c.4257G>C (p.Met1419Ile) c.4122G>C (p.Met1374Ile) c.4254G>C (p.Met1418Ile) n.397G>C n.545G>C n.1046G>C n.380G>C n.459G>C c.4119G>C (p.Met1373Ile) n.4415G>C | |
2 | g.71611620G>T | CA347228947 | DYSF | c.1629G>T (p.Met543Ile) c.846G>T (p.Met282Ile) c.804G>T (p.Met268Ile) c.4161G>T (p.Met1387Ile) c.4215G>T (p.Met1405Ile) c.4164G>T (p.Met1388Ile) c.4212G>T (p.Met1404Ile) c.4257G>T (p.Met1419Ile) c.4122G>T (p.Met1374Ile) c.4254G>T (p.Met1418Ile) n.397G>T n.545G>T n.1046G>T n.380G>T n.459G>T c.4119G>T (p.Met1373Ile) n.4415G>T | |
2 | g.71611621G>A | CA49779146 | DYSF | c.1630G>A (p.Glu544Lys) c.847G>A (p.Glu283Lys) c.805G>A (p.Glu269Lys) c.4162G>A (p.Glu1388Lys) c.4216G>A (p.Glu1406Lys) c.4165G>A (p.Glu1389Lys) c.4213G>A (p.Glu1405Lys) c.4258G>A (p.Glu1420Lys) c.4123G>A (p.Glu1375Lys) c.4255G>A (p.Glu1419Lys) n.398G>A n.546G>A n.1047G>A n.381G>A n.460G>A c.4120G>A (p.Glu1374Lys) n.4416G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611621G>C | CA347228955 | DYSF | c.1630G>C (p.Glu544Gln) c.847G>C (p.Glu283Gln) c.805G>C (p.Glu269Gln) c.4162G>C (p.Glu1388Gln) c.4216G>C (p.Glu1406Gln) c.4165G>C (p.Glu1389Gln) c.4213G>C (p.Glu1405Gln) c.4258G>C (p.Glu1420Gln) c.4123G>C (p.Glu1375Gln) c.4255G>C (p.Glu1419Gln) n.398G>C n.546G>C n.1047G>C n.381G>C n.460G>C c.4120G>C (p.Glu1374Gln) n.4416G>C | |
2 | g.71611621G= | CA1260124199 | DYSF | c.1630G= (p.Glu544=) c.847G= (p.Glu283=) c.805G= (p.Glu269=) c.4162G= (p.Glu1388=) c.4216G= (p.Glu1406=) c.4165G= (p.Glu1389=) c.4213G= (p.Glu1405=) c.4258G= (p.Glu1420=) c.4123G= (p.Glu1375=) c.4255G= (p.Glu1419=) n.398G= n.546G= n.1047G= n.381G= n.460G= c.4120G= (p.Glu1374=) n.4416G= | |
2 | g.71611621G>T | CA347228957 | DYSF | c.1630G>T (p.Glu544Ter) c.847G>T (p.Glu283Ter) c.805G>T (p.Glu269Ter) c.4162G>T (p.Glu1388Ter) c.4216G>T (p.Glu1406Ter) c.4165G>T (p.Glu1389Ter) c.4213G>T (p.Glu1405Ter) c.4258G>T (p.Glu1420Ter) c.4123G>T (p.Glu1375Ter) c.4255G>T (p.Glu1419Ter) n.398G>T n.546G>T n.1047G>T n.381G>T n.460G>T c.4120G>T (p.Glu1374Ter) n.4416G>T | ClinVar dbSNP gnomAD v4 |
2 | g.71611622A>C | CA347228960 | DYSF | c.1631A>C (p.Glu544Ala) c.848A>C (p.Glu283Ala) c.806A>C (p.Glu269Ala) c.4163A>C (p.Glu1388Ala) c.4217A>C (p.Glu1406Ala) c.4166A>C (p.Glu1389Ala) c.4214A>C (p.Glu1405Ala) c.4259A>C (p.Glu1420Ala) c.4124A>C (p.Glu1375Ala) c.4256A>C (p.Glu1419Ala) n.399A>C n.547A>C n.1048A>C n.382A>C n.461A>C c.4121A>C (p.Glu1374Ala) n.4417A>C | |
2 | g.71611622A>G | CA347228962 | DYSF | c.1631A>G (p.Glu544Gly) c.848A>G (p.Glu283Gly) c.806A>G (p.Glu269Gly) c.4163A>G (p.Glu1388Gly) c.4217A>G (p.Glu1406Gly) c.4166A>G (p.Glu1389Gly) c.4214A>G (p.Glu1405Gly) c.4259A>G (p.Glu1420Gly) c.4124A>G (p.Glu1375Gly) c.4256A>G (p.Glu1419Gly) n.399A>G n.547A>G n.1048A>G n.382A>G n.461A>G c.4121A>G (p.Glu1374Gly) n.4417A>G | |
2 | g.71611622A>T | CA347228964 | DYSF | c.1631A>T (p.Glu544Val) c.848A>T (p.Glu283Val) c.806A>T (p.Glu269Val) c.4163A>T (p.Glu1388Val) c.4217A>T (p.Glu1406Val) c.4166A>T (p.Glu1389Val) c.4214A>T (p.Glu1405Val) c.4259A>T (p.Glu1420Val) c.4124A>T (p.Glu1375Val) c.4256A>T (p.Glu1419Val) n.399A>T n.547A>T n.1048A>T n.382A>T n.461A>T c.4121A>T (p.Glu1374Val) n.4417A>T | |
2 | g.71611623A= | CA1260124200 | DYSF | c.1632A= (p.Glu544=) c.849A= (p.Glu283=) c.807A= (p.Glu269=) c.4164A= (p.Glu1388=) c.4218A= (p.Glu1406=) c.4167A= (p.Glu1389=) c.4215A= (p.Glu1405=) c.4260A= (p.Glu1420=) c.4125A= (p.Glu1375=) c.4257A= (p.Glu1419=) n.400A= n.548A= n.1049A= n.383A= n.462A= c.4122A= (p.Glu1374=) n.4418A= | |
2 | g.71611623A>C | CA347228967 | DYSF | c.1632A>C (p.Glu544Asp) c.849A>C (p.Glu283Asp) c.807A>C (p.Glu269Asp) c.4164A>C (p.Glu1388Asp) c.4218A>C (p.Glu1406Asp) c.4167A>C (p.Glu1389Asp) c.4215A>C (p.Glu1405Asp) c.4260A>C (p.Glu1420Asp) c.4125A>C (p.Glu1375Asp) c.4257A>C (p.Glu1419Asp) n.400A>C n.548A>C n.1049A>C n.383A>C n.462A>C c.4122A>C (p.Glu1374Asp) n.4418A>C | |
2 | g.71611623A>G | CA426758863 | DYSF | c.1632A>G (p.Glu544=) c.849A>G (p.Glu283=) c.807A>G (p.Glu269=) c.4164A>G (p.Glu1388=) c.4218A>G (p.Glu1406=) c.4167A>G (p.Glu1389=) c.4215A>G (p.Glu1405=) c.4260A>G (p.Glu1420=) c.4125A>G (p.Glu1375=) c.4257A>G (p.Glu1419=) n.400A>G n.548A>G n.1049A>G n.383A>G n.462A>G c.4122A>G (p.Glu1374=) n.4418A>G | |
2 | g.71611623A>T | CA49779152 | DYSF | c.1632A>T (p.Glu544Asp) c.849A>T (p.Glu283Asp) c.807A>T (p.Glu269Asp) c.4164A>T (p.Glu1388Asp) c.4218A>T (p.Glu1406Asp) c.4167A>T (p.Glu1389Asp) c.4215A>T (p.Glu1405Asp) c.4260A>T (p.Glu1420Asp) c.4125A>T (p.Glu1375Asp) c.4257A>T (p.Glu1419Asp) n.400A>T n.548A>T n.1049A>T n.383A>T n.462A>T c.4122A>T (p.Glu1374Asp) n.4418A>T | ClinVar dbSNP |
2 | g.71611623_71611626delinsAGTG | CA1260124201 | DYSF | c.1632_1635delinsAGTG (p.Glu544=) c.849_852delinsAGTG (p.Glu283=) c.807_810delinsAGTG (p.Glu269=) c.4164_4167delinsAGTG (p.Glu1388=) c.4218_4221delinsAGTG (p.Glu1406=) c.4167_4170delinsAGTG (p.Glu1389=) c.4215_4218delinsAGTG (p.Glu1405=) c.4260_4263delinsAGTG (p.Glu1420=) c.4125_4128delinsAGTG (p.Glu1375=) c.4257_4260delinsAGTG (p.Glu1419=) n.400_403delinsAGTG n.548_551delinsAGTG n.1049_1052delinsAGTG n.383_386delinsAGTG n.462_465delinsAGTG c.4122_4125delinsAGTG (p.Glu1374=) n.4418_4421delinsAGTG | |
2 | g.71611624G>A | CA347228972 | DYSF | c.1633G>A (p.Val545Met) c.850G>A (p.Val284Met) c.808G>A (p.Val270Met) c.4165G>A (p.Val1389Met) c.4219G>A (p.Val1407Met) c.4168G>A (p.Val1390Met) c.4216G>A (p.Val1406Met) c.4261G>A (p.Val1421Met) c.4126G>A (p.Val1376Met) c.4258G>A (p.Val1420Met) n.401G>A n.549G>A n.1050G>A n.384G>A n.463G>A c.4123G>A (p.Val1375Met) n.4419G>A | ClinVar gnomAD v4 |
2 | g.71611624G>C | CA347228974 | DYSF | c.1633G>C (p.Val545Leu) c.850G>C (p.Val284Leu) c.808G>C (p.Val270Leu) c.4165G>C (p.Val1389Leu) c.4219G>C (p.Val1407Leu) c.4168G>C (p.Val1390Leu) c.4216G>C (p.Val1406Leu) c.4261G>C (p.Val1421Leu) c.4126G>C (p.Val1376Leu) c.4258G>C (p.Val1420Leu) n.401G>C n.549G>C n.1050G>C n.384G>C n.463G>C c.4123G>C (p.Val1375Leu) n.4419G>C | |
2 | g.71611624G>T | CA347228976 | DYSF | c.1633G>T (p.Val545Leu) c.850G>T (p.Val284Leu) c.808G>T (p.Val270Leu) c.4165G>T (p.Val1389Leu) c.4219G>T (p.Val1407Leu) c.4168G>T (p.Val1390Leu) c.4216G>T (p.Val1406Leu) c.4261G>T (p.Val1421Leu) c.4126G>T (p.Val1376Leu) c.4258G>T (p.Val1420Leu) n.401G>T n.549G>T n.1050G>T n.384G>T n.463G>T c.4123G>T (p.Val1375Leu) n.4419G>T | gnomAD v4 |
2 | g.71611627_71611629del | CA892652134 | DYSF | c.1635+1_1635+3del c.852+1_852+3del c.810+1_810+3del c.4167+1_4167+3del c.4221+1_4221+3del c.4170+1_4170+3del c.4218+1_4218+3del c.4263+1_4263+3del c.4128+1_4128+3del c.4260+1_4260+3del n.403+1_403+3del n.551+1_551+3del n.1052+1_1052+3del n.386+1_386+3del n.465+1_465+3del c.4125+1_4125+3del n.4421+1_4421+3del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611625T>A | CA347228983 | DYSF | c.1634T>A (p.Val545Glu) c.851T>A (p.Val284Glu) c.809T>A (p.Val270Glu) c.4166T>A (p.Val1389Glu) c.4220T>A (p.Val1407Glu) c.4169T>A (p.Val1390Glu) c.4217T>A (p.Val1406Glu) c.4262T>A (p.Val1421Glu) c.4127T>A (p.Val1376Glu) c.4259T>A (p.Val1420Glu) n.402T>A n.550T>A n.1051T>A n.385T>A n.464T>A c.4124T>A (p.Val1375Glu) n.4420T>A | |
2 | g.71611625T>C | CA347228981 | DYSF | c.1634T>C (p.Val545Ala) c.851T>C (p.Val284Ala) c.809T>C (p.Val270Ala) c.4166T>C (p.Val1389Ala) c.4220T>C (p.Val1407Ala) c.4169T>C (p.Val1390Ala) c.4217T>C (p.Val1406Ala) c.4262T>C (p.Val1421Ala) c.4127T>C (p.Val1376Ala) c.4259T>C (p.Val1420Ala) n.402T>C n.550T>C n.1051T>C n.385T>C n.464T>C c.4124T>C (p.Val1375Ala) n.4420T>C | dbSNP |
2 | g.71611625T>G | CA347228979 | DYSF | c.1634T>G (p.Val545Gly) c.851T>G (p.Val284Gly) c.809T>G (p.Val270Gly) c.4166T>G (p.Val1389Gly) c.4220T>G (p.Val1407Gly) c.4169T>G (p.Val1390Gly) c.4217T>G (p.Val1406Gly) c.4262T>G (p.Val1421Gly) c.4127T>G (p.Val1376Gly) c.4259T>G (p.Val1420Gly) n.402T>G n.550T>G n.1051T>G n.385T>G n.464T>G c.4124T>G (p.Val1375Gly) n.4420T>G | COSMIC COSMIC |
2 | g.71611625T= | CA1260124202 | DYSF | c.1634T= (p.Val545=) c.851T= (p.Val284=) c.809T= (p.Val270=) c.4166T= (p.Val1389=) c.4220T= (p.Val1407=) c.4169T= (p.Val1390=) c.4217T= (p.Val1406=) c.4262T= (p.Val1421=) c.4127T= (p.Val1376=) c.4259T= (p.Val1420=) n.402T= n.550T= n.1051T= n.385T= n.464T= c.4124T= (p.Val1375=) n.4420T= | |
2 | g.71611626G>A | CA426758865 | DYSF | c.1635G>A (p.Val545=) c.852G>A (p.Val284=) c.810G>A (p.Val270=) c.4167G>A (p.Val1389=) c.4221G>A (p.Val1407=) c.4170G>A (p.Val1390=) c.4218G>A (p.Val1406=) c.4263G>A (p.Val1421=) c.4128G>A (p.Val1376=) c.4260G>A (p.Val1420=) n.403G>A n.551G>A n.1052G>A n.386G>A n.465G>A c.4125G>A (p.Val1375=) n.4421G>A | gnomAD v4 COSMIC COSMIC |
2 | g.71611626G>C | CA426758866 | DYSF | c.1635G>C (p.Val545=) c.852G>C (p.Val284=) c.810G>C (p.Val270=) c.4167G>C (p.Val1389=) c.4221G>C (p.Val1407=) c.4170G>C (p.Val1390=) c.4218G>C (p.Val1406=) c.4263G>C (p.Val1421=) c.4128G>C (p.Val1376=) c.4260G>C (p.Val1420=) n.403G>C n.551G>C n.1052G>C n.386G>C n.465G>C c.4125G>C (p.Val1375=) n.4421G>C | |
2 | g.71611626G= | CA1260124203 | DYSF | c.1635G= (p.Val545=) c.852G= (p.Val284=) c.810G= (p.Val270=) c.4167G= (p.Val1389=) c.4221G= (p.Val1407=) c.4170G= (p.Val1390=) c.4218G= (p.Val1406=) c.4263G= (p.Val1421=) c.4128G= (p.Val1376=) c.4260G= (p.Val1420=) n.403G= n.551G= n.1052G= n.386G= n.465G= c.4125G= (p.Val1375=) n.4421G= | |
2 | g.71611626G>T | CA426758867 | DYSF | c.1635G>T (p.Val545=) c.852G>T (p.Val284=) c.810G>T (p.Val270=) c.4167G>T (p.Val1389=) c.4221G>T (p.Val1407=) c.4170G>T (p.Val1390=) c.4218G>T (p.Val1406=) c.4263G>T (p.Val1421=) c.4128G>T (p.Val1376=) c.4260G>T (p.Val1420=) n.403G>T n.551G>T n.1052G>T n.386G>T n.465G>T c.4125G>T (p.Val1375=) n.4421G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71611627G>A | CA347228986 | DYSF | c.1635+1G>A (n.1635+1G>A) c.852+1G>A (n.852+1G>A) c.810+1G>A (n.810+1G>A) c.4167+1G>A (n.4167+1G>A) c.4221+1G>A (n.4221+1G>A) c.4170+1G>A (n.4170+1G>A) c.4218+1G>A (n.4218+1G>A) c.4263+1G>A (n.4263+1G>A) c.4128+1G>A (n.4128+1G>A) c.4260+1G>A (n.4260+1G>A) n.403+1G>A n.551+1G>A n.1052+1G>A n.386+1G>A n.465+1G>A c.4125+1G>A (n.4125+1G>A) n.4421+1G>A | |
2 | g.71611627G>C | CA347228990 | DYSF | c.1635+1G>C (n.1635+1G>C) c.852+1G>C (n.852+1G>C) c.810+1G>C (n.810+1G>C) c.4167+1G>C (n.4167+1G>C) c.4221+1G>C (n.4221+1G>C) c.4170+1G>C (n.4170+1G>C) c.4218+1G>C (n.4218+1G>C) c.4263+1G>C (n.4263+1G>C) c.4128+1G>C (n.4128+1G>C) c.4260+1G>C (n.4260+1G>C) n.403+1G>C n.551+1G>C n.1052+1G>C n.386+1G>C n.465+1G>C c.4125+1G>C (n.4125+1G>C) n.4421+1G>C | ClinVar dbSNP |
2 | g.71611627G= | CA1260124204 | DYSF | c.1635+1G= (n.1635+1G=) c.852+1G= (n.852+1G=) c.810+1G= (n.810+1G=) c.4167+1G= (n.4167+1G=) c.4221+1G= (n.4221+1G=) c.4170+1G= (n.4170+1G=) c.4218+1G= (n.4218+1G=) c.4263+1G= (n.4263+1G=) c.4128+1G= (n.4128+1G=) c.4260+1G= (n.4260+1G=) n.403+1G= n.551+1G= n.1052+1G= n.386+1G= n.465+1G= c.4125+1G= (n.4125+1G=) n.4421+1G= | |
2 | g.71611627G>T | CA347228988 | DYSF | c.1635+1G>T (n.1635+1G>T) c.852+1G>T (n.852+1G>T) c.810+1G>T (n.810+1G>T) c.4167+1G>T (n.4167+1G>T) c.4221+1G>T (n.4221+1G>T) c.4170+1G>T (n.4170+1G>T) c.4218+1G>T (n.4218+1G>T) c.4263+1G>T (n.4263+1G>T) c.4128+1G>T (n.4128+1G>T) c.4260+1G>T (n.4260+1G>T) n.403+1G>T n.551+1G>T n.1052+1G>T n.386+1G>T n.465+1G>T c.4125+1G>T (n.4125+1G>T) n.4421+1G>T | ClinVar |
2 | g.71611628T>A | CA347228994 | DYSF | c.1635+2T>A (n.1635+2T>A) c.852+2T>A (n.852+2T>A) c.810+2T>A (n.810+2T>A) c.4167+2T>A (n.4167+2T>A) c.4221+2T>A (n.4221+2T>A) c.4170+2T>A (n.4170+2T>A) c.4218+2T>A (n.4218+2T>A) c.4263+2T>A (n.4263+2T>A) c.4128+2T>A (n.4128+2T>A) c.4260+2T>A (n.4260+2T>A) n.403+2T>A n.551+2T>A n.1052+2T>A n.386+2T>A n.465+2T>A c.4125+2T>A (n.4125+2T>A) n.4421+2T>A | |
2 | g.71611628T>C | CA347228996 | DYSF | c.1635+2T>C (n.1635+2T>C) c.852+2T>C (n.852+2T>C) c.810+2T>C (n.810+2T>C) c.4167+2T>C (n.4167+2T>C) c.4221+2T>C (n.4221+2T>C) c.4170+2T>C (n.4170+2T>C) c.4218+2T>C (n.4218+2T>C) c.4263+2T>C (n.4263+2T>C) c.4128+2T>C (n.4128+2T>C) c.4260+2T>C (n.4260+2T>C) n.403+2T>C n.551+2T>C n.1052+2T>C n.386+2T>C n.465+2T>C c.4125+2T>C (n.4125+2T>C) n.4421+2T>C | |
2 | g.71611628T>G | CA347228998 | DYSF | c.1635+2T>G (n.1635+2T>G) c.852+2T>G (n.852+2T>G) c.810+2T>G (n.810+2T>G) c.4167+2T>G (n.4167+2T>G) c.4221+2T>G (n.4221+2T>G) c.4170+2T>G (n.4170+2T>G) c.4218+2T>G (n.4218+2T>G) c.4263+2T>G (n.4263+2T>G) c.4128+2T>G (n.4128+2T>G) c.4260+2T>G (n.4260+2T>G) n.403+2T>G n.551+2T>G n.1052+2T>G n.386+2T>G n.465+2T>G c.4125+2T>G (n.4125+2T>G) n.4421+2T>G | |
2 | g.71611629G>A | CA49779157 | DYSF | c.1635+3G>A (n.1635+3G>A) c.852+3G>A (n.852+3G>A) c.810+3G>A (n.810+3G>A) c.4167+3G>A (n.4167+3G>A) c.4221+3G>A (n.4221+3G>A) c.4170+3G>A (n.4170+3G>A) c.4218+3G>A (n.4218+3G>A) c.4263+3G>A (n.4263+3G>A) c.4128+3G>A (n.4128+3G>A) c.4260+3G>A (n.4260+3G>A) n.403+3G>A n.551+3G>A n.1052+3G>A n.386+3G>A n.465+3G>A c.4125+3G>A (n.4125+3G>A) n.4421+3G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611629G= | CA1260124205 | DYSF | c.1635+3G= (n.1635+3G=) c.852+3G= (n.852+3G=) c.810+3G= (n.810+3G=) c.4167+3G= (n.4167+3G=) c.4221+3G= (n.4221+3G=) c.4170+3G= (n.4170+3G=) c.4218+3G= (n.4218+3G=) c.4263+3G= (n.4263+3G=) c.4128+3G= (n.4128+3G=) c.4260+3G= (n.4260+3G=) n.403+3G= n.551+3G= n.1052+3G= n.386+3G= n.465+3G= c.4125+3G= (n.4125+3G=) n.4421+3G= | |
2 | g.71611630_71611631delinsAG | CA1260124206 | DYSF | c.1635+4_1635+5delinsAG (n.1635+4_1635+5delinsAG) c.852+4_852+5delinsAG (n.852+4_852+5delinsAG) c.810+4_810+5delinsAG (n.810+4_810+5delinsAG) c.4167+4_4167+5delinsAG (n.4167+4_4167+5delinsAG) c.4221+4_4221+5delinsAG (n.4221+4_4221+5delinsAG) c.4170+4_4170+5delinsAG (n.4170+4_4170+5delinsAG) c.4218+4_4218+5delinsAG (n.4218+4_4218+5delinsAG) c.4263+4_4263+5delinsAG (n.4263+4_4263+5delinsAG) c.4128+4_4128+5delinsAG (n.4128+4_4128+5delinsAG) c.4260+4_4260+5delinsAG (n.4260+4_4260+5delinsAG) n.403+4_403+5delinsAG n.551+4_551+5delinsAG n.1052+4_1052+5delinsAG n.386+4_386+5delinsAG n.465+4_465+5delinsAG c.4125+4_4125+5delinsAG (n.4125+4_4125+5delinsAG) n.4421+4_4421+5delinsAG | |
2 | g.71611631del | CA658820644 | DYSF | c.1635+5del (n.1635+5del) c.852+5del (n.852+5del) c.810+5del (n.810+5del) c.4167+5del (n.4167+5del) c.4221+5del (n.4221+5del) c.4170+5del (n.4170+5del) c.4218+5del (n.4218+5del) c.4263+5del (n.4263+5del) c.4128+5del (n.4128+5del) c.4260+5del (n.4260+5del) n.403+5del n.551+5del n.1052+5del n.386+5del n.465+5del c.4125+5del (n.4125+5del) n.4421+5del | ClinVar dbSNP |
2 | g.71611632C>T | CA2659553257 | DYSF | c.1635+6C>T (n.1635+6C>T) c.852+6C>T (n.852+6C>T) c.810+6C>T (n.810+6C>T) c.4167+6C>T (n.4167+6C>T) c.4221+6C>T (n.4221+6C>T) c.4170+6C>T (n.4170+6C>T) c.4218+6C>T (n.4218+6C>T) c.4263+6C>T (n.4263+6C>T) c.4128+6C>T (n.4128+6C>T) c.4260+6C>T (n.4260+6C>T) n.403+6C>T n.551+6C>T n.1052+6C>T n.386+6C>T n.465+6C>T c.4125+6C>T (n.4125+6C>T) n.4421+6C>T | gnomAD v4 |
2 | g.71611633C= | CA1260124207 | DYSF | c.1635+7C= (n.1635+7C=) c.852+7C= (n.852+7C=) c.810+7C= (n.810+7C=) c.4167+7C= (n.4167+7C=) c.4221+7C= (n.4221+7C=) c.4170+7C= (n.4170+7C=) c.4218+7C= (n.4218+7C=) c.4263+7C= (n.4263+7C=) c.4128+7C= (n.4128+7C=) c.4260+7C= (n.4260+7C=) n.403+7C= n.551+7C= n.1052+7C= n.386+7C= n.465+7C= c.4125+7C= (n.4125+7C=) n.4421+7C= | |
2 | g.71611633C>T | CA1706919 | DYSF | c.1635+7C>T (n.1635+7C>T) c.852+7C>T (n.852+7C>T) c.810+7C>T (n.810+7C>T) c.4167+7C>T (n.4167+7C>T) c.4221+7C>T (n.4221+7C>T) c.4170+7C>T (n.4170+7C>T) c.4218+7C>T (n.4218+7C>T) c.4263+7C>T (n.4263+7C>T) c.4128+7C>T (n.4128+7C>T) c.4260+7C>T (n.4260+7C>T) n.403+7C>T n.551+7C>T n.1052+7C>T n.386+7C>T n.465+7C>T c.4125+7C>T (n.4125+7C>T) n.4421+7C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611634C>T | CA2499216219 | DYSF | c.1635+8C>T (n.1635+8C>T) c.852+8C>T (n.852+8C>T) c.810+8C>T (n.810+8C>T) c.4167+8C>T (n.4167+8C>T) c.4221+8C>T (n.4221+8C>T) c.4170+8C>T (n.4170+8C>T) c.4218+8C>T (n.4218+8C>T) c.4263+8C>T (n.4263+8C>T) c.4128+8C>T (n.4128+8C>T) c.4260+8C>T (n.4260+8C>T) n.403+8C>T n.551+8C>T n.1052+8C>T n.386+8C>T n.465+8C>T c.4125+8C>T (n.4125+8C>T) n.4421+8C>T | ClinVar dbSNP gnomAD v4 |
2 | g.71611635C= | CA1260124208 | DYSF | c.1635+9C= (n.1635+9C=) c.852+9C= (n.852+9C=) c.810+9C= (n.810+9C=) c.4167+9C= (n.4167+9C=) c.4221+9C= (n.4221+9C=) c.4170+9C= (n.4170+9C=) c.4218+9C= (n.4218+9C=) c.4263+9C= (n.4263+9C=) c.4128+9C= (n.4128+9C=) c.4260+9C= (n.4260+9C=) n.403+9C= n.551+9C= n.1052+9C= n.386+9C= n.465+9C= c.4125+9C= (n.4125+9C=) n.4421+9C= | |
2 | g.71611635C>T | CA1706920 | DYSF | c.1635+9C>T (n.1635+9C>T) c.852+9C>T (n.852+9C>T) c.810+9C>T (n.810+9C>T) c.4167+9C>T (n.4167+9C>T) c.4221+9C>T (n.4221+9C>T) c.4170+9C>T (n.4170+9C>T) c.4218+9C>T (n.4218+9C>T) c.4263+9C>T (n.4263+9C>T) c.4128+9C>T (n.4128+9C>T) c.4260+9C>T (n.4260+9C>T) n.403+9C>T n.551+9C>T n.1052+9C>T n.386+9C>T n.465+9C>T c.4125+9C>T (n.4125+9C>T) n.4421+9C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611636A= | CA1260124209 | DYSF | c.1635+10A= (n.1635+10A=) c.852+10A= (n.852+10A=) c.810+10A= (n.810+10A=) c.4167+10A= (n.4167+10A=) c.4221+10A= (n.4221+10A=) c.4170+10A= (n.4170+10A=) c.4218+10A= (n.4218+10A=) c.4263+10A= (n.4263+10A=) c.4128+10A= (n.4128+10A=) c.4260+10A= (n.4260+10A=) n.403+10A= n.551+10A= n.1052+10A= n.386+10A= n.465+10A= c.4125+10A= (n.4125+10A=) n.4421+10A= | |
2 | g.71611636A>G | CA892652165 | DYSF | c.1635+10A>G (n.1635+10A>G) c.852+10A>G (n.852+10A>G) c.810+10A>G (n.810+10A>G) c.4167+10A>G (n.4167+10A>G) c.4221+10A>G (n.4221+10A>G) c.4170+10A>G (n.4170+10A>G) c.4218+10A>G (n.4218+10A>G) c.4263+10A>G (n.4263+10A>G) c.4128+10A>G (n.4128+10A>G) c.4260+10A>G (n.4260+10A>G) n.403+10A>G n.551+10A>G n.1052+10A>G n.386+10A>G n.465+10A>G c.4125+10A>G (n.4125+10A>G) n.4421+10A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611637C= | CA1260124210 | DYSF | c.1635+11C= (n.1635+11C=) c.852+11C= (n.852+11C=) c.810+11C= (n.810+11C=) c.4167+11C= (n.4167+11C=) c.4221+11C= (n.4221+11C=) c.4170+11C= (n.4170+11C=) c.4218+11C= (n.4218+11C=) c.4263+11C= (n.4263+11C=) c.4128+11C= (n.4128+11C=) c.4260+11C= (n.4260+11C=) n.403+11C= n.551+11C= n.1052+11C= n.386+11C= n.465+11C= c.4125+11C= (n.4125+11C=) n.4421+11C= | |
2 | g.71611637C>T | CA533655634 | DYSF | c.1635+11C>T (n.1635+11C>T) c.852+11C>T (n.852+11C>T) c.810+11C>T (n.810+11C>T) c.4167+11C>T (n.4167+11C>T) c.4221+11C>T (n.4221+11C>T) c.4170+11C>T (n.4170+11C>T) c.4218+11C>T (n.4218+11C>T) c.4263+11C>T (n.4263+11C>T) c.4128+11C>T (n.4128+11C>T) c.4260+11C>T (n.4260+11C>T) n.403+11C>T n.551+11C>T n.1052+11C>T n.386+11C>T n.465+11C>T c.4125+11C>T (n.4125+11C>T) n.4421+11C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611638C>A | CA2659553259 | DYSF | c.1635+12C>A (n.1635+12C>A) c.852+12C>A (n.852+12C>A) c.810+12C>A (n.810+12C>A) c.4167+12C>A (n.4167+12C>A) c.4221+12C>A (n.4221+12C>A) c.4170+12C>A (n.4170+12C>A) c.4218+12C>A (n.4218+12C>A) c.4263+12C>A (n.4263+12C>A) c.4128+12C>A (n.4128+12C>A) c.4260+12C>A (n.4260+12C>A) n.403+12C>A n.551+12C>A n.1052+12C>A n.386+12C>A n.465+12C>A c.4125+12C>A (n.4125+12C>A) n.4421+12C>A | gnomAD v4 |
2 | g.71611638C= | CA1260124211 | DYSF | c.1635+12C= (n.1635+12C=) c.852+12C= (n.852+12C=) c.810+12C= (n.810+12C=) c.4167+12C= (n.4167+12C=) c.4221+12C= (n.4221+12C=) c.4170+12C= (n.4170+12C=) c.4218+12C= (n.4218+12C=) c.4263+12C= (n.4263+12C=) c.4128+12C= (n.4128+12C=) c.4260+12C= (n.4260+12C=) n.403+12C= n.551+12C= n.1052+12C= n.386+12C= n.465+12C= c.4125+12C= (n.4125+12C=) n.4421+12C= | |
2 | g.71611638C>G | CA2659553258 | DYSF | c.1635+12C>G (n.1635+12C>G) c.852+12C>G (n.852+12C>G) c.810+12C>G (n.810+12C>G) c.4167+12C>G (n.4167+12C>G) c.4221+12C>G (n.4221+12C>G) c.4170+12C>G (n.4170+12C>G) c.4218+12C>G (n.4218+12C>G) c.4263+12C>G (n.4263+12C>G) c.4128+12C>G (n.4128+12C>G) c.4260+12C>G (n.4260+12C>G) n.403+12C>G n.551+12C>G n.1052+12C>G n.386+12C>G n.465+12C>G c.4125+12C>G (n.4125+12C>G) n.4421+12C>G | gnomAD v4 |
2 | g.71611638C>T | CA533655635 | DYSF | c.1635+12C>T (n.1635+12C>T) c.852+12C>T (n.852+12C>T) c.810+12C>T (n.810+12C>T) c.4167+12C>T (n.4167+12C>T) c.4221+12C>T (n.4221+12C>T) c.4170+12C>T (n.4170+12C>T) c.4218+12C>T (n.4218+12C>T) c.4263+12C>T (n.4263+12C>T) c.4128+12C>T (n.4128+12C>T) c.4260+12C>T (n.4260+12C>T) n.403+12C>T n.551+12C>T n.1052+12C>T n.386+12C>T n.465+12C>T c.4125+12C>T (n.4125+12C>T) n.4421+12C>T | dbSNP gnomAD v2 |
2 | g.71611644A>G | CA2577000504 | DYSF | c.1635+18A>G (n.1635+18A>G) c.852+18A>G (n.852+18A>G) c.810+18A>G (n.810+18A>G) c.4167+18A>G (n.4167+18A>G) c.4221+18A>G (n.4221+18A>G) c.4170+18A>G (n.4170+18A>G) c.4218+18A>G (n.4218+18A>G) c.4263+18A>G (n.4263+18A>G) c.4128+18A>G (n.4128+18A>G) c.4260+18A>G (n.4260+18A>G) n.403+18A>G n.551+18A>G n.1052+18A>G n.386+18A>G n.465+18A>G c.4125+18A>G (n.4125+18A>G) n.4421+18A>G | ClinVar gnomAD v4 |
2 | g.71611645C= | CA1260124212 | DYSF | c.1635+19C= (n.1635+19C=) c.852+19C= (n.852+19C=) c.810+19C= (n.810+19C=) c.4167+19C= (n.4167+19C=) c.4221+19C= (n.4221+19C=) c.4170+19C= (n.4170+19C=) c.4218+19C= (n.4218+19C=) c.4263+19C= (n.4263+19C=) c.4128+19C= (n.4128+19C=) c.4260+19C= (n.4260+19C=) n.403+19C= n.551+19C= n.1052+19C= n.386+19C= n.465+19C= c.4125+19C= (n.4125+19C=) n.4421+19C= | |
2 | g.71611645C>G | CA1706921 | DYSF | c.1635+19C>G (n.1635+19C>G) c.852+19C>G (n.852+19C>G) c.810+19C>G (n.810+19C>G) c.4167+19C>G (n.4167+19C>G) c.4221+19C>G (n.4221+19C>G) c.4170+19C>G (n.4170+19C>G) c.4218+19C>G (n.4218+19C>G) c.4263+19C>G (n.4263+19C>G) c.4128+19C>G (n.4128+19C>G) c.4260+19C>G (n.4260+19C>G) n.403+19C>G n.551+19C>G n.1052+19C>G n.386+19C>G n.465+19C>G c.4125+19C>G (n.4125+19C>G) n.4421+19C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611645C>T | CA533655636 | DYSF | c.1635+19C>T (n.1635+19C>T) c.852+19C>T (n.852+19C>T) c.810+19C>T (n.810+19C>T) c.4167+19C>T (n.4167+19C>T) c.4221+19C>T (n.4221+19C>T) c.4170+19C>T (n.4170+19C>T) c.4218+19C>T (n.4218+19C>T) c.4263+19C>T (n.4263+19C>T) c.4128+19C>T (n.4128+19C>T) c.4260+19C>T (n.4260+19C>T) n.403+19C>T n.551+19C>T n.1052+19C>T n.386+19C>T n.465+19C>T c.4125+19C>T (n.4125+19C>T) n.4421+19C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611647G>T | CA2659553260 | DYSF | c.1635+21G>T (n.1635+21G>T) c.852+21G>T (n.852+21G>T) c.810+21G>T (n.810+21G>T) c.4167+21G>T (n.4167+21G>T) c.4221+21G>T (n.4221+21G>T) c.4170+21G>T (n.4170+21G>T) c.4218+21G>T (n.4218+21G>T) c.4263+21G>T (n.4263+21G>T) c.4128+21G>T (n.4128+21G>T) c.4260+21G>T (n.4260+21G>T) n.403+21G>T n.551+21G>T n.1052+21G>T n.386+21G>T n.465+21G>T c.4125+21G>T (n.4125+21G>T) n.4421+21G>T | gnomAD v4 |