Variants

Back To [Main]
Gene NameLocationDNA ChangeProtein ChangeAvg. Het. FrequencyReferenceAdmin
--
Showing 1 to 31 of 31.
ACVRL13'UTR c.1512+58G>AUnknown0Details
ACVRL1Intron 01c.1-34C>TNone5.335Details
ACVRL1Intron 01c.1-38C>TNone1424, 65, 77Details
ACVRL1Exon 03c.207C>Tp.Cys69Cys0Details
ACVRL1Intron 03c.313+11C>TNone4027, 65Details
ACVRL1Intron 03c.313+40G>ANone0Details
ACVRL1Intron 03c.314-35A>GNone5573, 77Details
ACVRL1Intron 03c.314-49G>CNone0Details
ACVRL1Intron 03c.314-49G>Aunknown1.478Details
ACVRL1Exon 04c.330G>Ap.Ser110Ser1.877, 78Details
ACVRL1Exon 04c.381G>Ap.Leu127Leu0Details
ACVRL1Exon 04c.474A>Tp.Gly158Gly069Details
ACVRL1Intron 05c.625+110del21None5073Details
ACVRL1Intron 05c.626-60_59delGGinsTNone035, 65Details
ACVRL1Intron 05c.626-59delGunknown1.478Details
ACVRL1Intron 05c.626-53C>TNone073Details
ACVRL1Exon 06c.666C>Tp.His222His0.773Details
ACVRL1Exon 06c.747G>Ap.Val249Val224, 65Details
ACVRL1Intron 06c.773-59insTunknown2.878Details
ACVRL1Exon 07c.931G>Ap.A311T0Details
ACVRL1Exon 07c.933G>Ap.Ala311Ala065Details
ACVRL1Intron 07c.1048+55_58delTCTCunknown0.778Details
ACVRL1Intron 07c.1247-86_84ATA>TAT0Details
ACVRL1Exon 08c.1092C>Tp.Ile364Ile065Details
ACVRL1Exon 08c.1166G>AC389Y0Details
ACVRL1Intron 09c.1377+45T>Cunknown29.478Details
ACVRL1Intron 09c.1377+65A>Gunknown29.478Details
ACVRL1Intron 09c.1378-62C>Anone0Details
ACVRL1Intron 09c.1378-30T>CNone224Details
ACVRL1Exon 10c.1445C>Tp.Ala482Val033, 35, 47Details
ACVRL1Exon 10c.1452G>Ap.Arg484Arg0.773Details