Variants

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Gene NameLocationDNA ChangeProtein ChangeAvg. Het. FrequencyReferenceAdmin
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Showing 1 to 40 of 40.
ENGExon 01c.14C>Tp.Thr5Met23, 16, 48, 65Details
ENGIntron 01c.67+14C>TNone0Details
ENGExon 02c.120C>Tp.Gly40Gly0.5Details
ENGExon 02c.207G>Ap.Leu69Leu113, 16, 35, 65Details
ENGIntron 02c.67+25G>TNone016, 65Details
ENGIntron 02c.219+25G>Aunkown1.478Details
ENGIntron 02c.219+22-23delCGinsG ...Unknown ...0.778Details
ENGIntron 02c.219+25G>TNone5Details
ENGExon 03c.225G>Ap.Pro75Pro1.1Details
ENGExon 03c.234G>Ap.Leu78Leu1.1Details
ENGIntron 03c.360+91C>TNone0Details
ENGIntron 03c.360+21C>TNone0Details
ENGExon 04c.388C>Ap.Pro130Ser065Details
ENGExon 05c.572G>Ap.Gly191Asp6.435, 48, 65Details
ENGExon 05c.590G>Ap.Arg197Gln0.948Details
ENGIntron 05c.689+66_67insCNone0Details
ENGIntron 06c.817-27delCTunknown078Details
ENGIntron 06c.817-79C>ANone0Details
ENGIntron 07c.991+58A>TNone0Details
ENGIntron 07c.991+25_26insCCTCCCNone42.135, 65Details
ENGExon 08c.1029C>Tp.Thr343Thr53, 35, 65Details
ENGExon 08c.1055C>Tp.Pro352Leu116Details
ENGExon 08c.1060C>Tp.Leu354Leu1.6Details
ENGExon 08c.1095C>Tp.D365D0Details
ENGExon 08c.1096G>Cp.Asp366His116, 21, 35, 48, 55, 65Details
ENGIntron 08c.1134+54C>Tunknown0.778Details
ENGIntron 08c.1134+93G>TNone0Details
ENGIntron 09ac.1273-4G>ANone1.2573Details
ENGExon 10c.1374A>Gp.Pro458Pro269, 73Details
ENGExon 10c.1407G>Ap.Pro469Pro0.778Details
ENGExon 11c.1671C>Tp.T557T0Details
ENGIntron 11c.686+99T>ANone0Details
ENGExon 12c.1724T>Cp.Ile575Thr0.716, 65Details
ENGIntron 12c.1741G>ANone0Details
ENGIntron 12c.1741+35G>ANone0Details
ENGIntron 12c.1742-72T>CNone3.6Details
ENGIntron 12c.1742-31T>Cunknown0.778Details
ENGExon 13c.1794T>Cp.Gly598Gly0Details
ENGExon 13c.1794T>Gp.Gly598Gly1.248Details
ENGExon 14c.1932C>Tp.Ile644Ile1.478Details