NM_006545.5(NPRL2):c.1004G>A (p.Arg335Gln)
|
rs758322982
|
0.00004
|
NM_006545.5(NPRL2):c.694G>A (p.Val232Ile)
|
rs767088341
|
0.00003
|
NM_006545.5(NPRL2):c.661C>T (p.Arg221Cys)
|
rs751736902
|
0.00001
|
NM_003995.4(NPR2):c.1032T>G (p.Tyr344Ter)
|
rs1588057922
|
|
NM_003995.4(NPR2):c.2794C>T (p.Arg932Cys)
|
rs760285654
|
|
NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln)
|
rs771373457
|
|
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu)
|
rs771373457
|
|
NM_003995.4(NPR2):c.3059G>A (p.Arg1020Gln)
|
rs770815149
|
|
NM_004366.6(CLCN2):c.2270C>T (p.Ala757Val)
|
|
|
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter)
|
rs886037963
|
|
NM_006545.5(NPRL2):c.158A>G (p.Lys53Arg)
|
|
|
NM_006545.5(NPRL2):c.213C>G (p.Ile71Met)
|
rs752423985
|
|
NM_006545.5(NPRL2):c.232C>T (p.Arg78Cys)
|
|
|
NM_006545.5(NPRL2):c.233G>T (p.Arg78Leu)
|
rs1559857717
|
|
NM_006545.5(NPRL2):c.260T>C (p.Phe87Ser)
|
|
|
NM_006545.5(NPRL2):c.314T>C (p.Leu105Pro)
|
rs886037965
|
|
NM_006545.5(NPRL2):c.416T>G (p.Leu139Arg)
|
|
|
NM_006545.5(NPRL2):c.445_448+3del
|
rs1575562076
|
|
NM_006545.5(NPRL2):c.472A>G (p.Lys158Glu)
|
rs1703653579
|
|
NM_006545.5(NPRL2):c.491dup (p.Asp165fs)
|
rs1703652698
|
|
NM_006545.5(NPRL2):c.562C>T (p.Gln188Ter)
|
rs2109365845
|
|
NM_006545.5(NPRL2):c.586-3C>A
|
rs775206926
|
|
NM_006545.5(NPRL2):c.602A>C (p.Asp201Ala)
|
rs202157450
|
|
NM_006545.5(NPRL2):c.683T>C (p.Leu228Pro)
|
rs1559856358
|
|
NM_006545.5(NPRL2):c.684-12TC[3]
|
|
|
NM_006545.5(NPRL2):c.68_69del (p.Ile23fs)
|
rs886037966
|
|
NM_006545.5(NPRL2):c.728A>G (p.Asn243Ser)
|
|
|
NM_006545.5(NPRL2):c.743C>T (p.Thr248Met)
|
|
|
NM_006545.5(NPRL2):c.865_871del (p.Ser289fs)
|
rs2109364484
|
|
NM_006545.5(NPRL2):c.883C>T (p.Arg295Ter)
|
rs886037964
|
|
NM_006545.5(NPRL2):c.911A>C (p.Gln304Pro)
|
|
|
NM_006545.5(NPRL2):c.932+1G>A
|
rs1703621639
|
|
NM_006545.5(NPRL2):c.932G>A (p.Arg311Gln)
|
|
|