NM_020366.4(RPGRIP1):c.1468-2A>G
|
rs751342895
|
0.00004
|
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)
|
rs192003551
|
0.00004
|
NM_020366.4(RPGRIP1):c.218+1G>T
|
rs546692544
|
0.00004
|
NM_020366.4(RPGRIP1):c.3749-2A>G
|
rs376517859
|
0.00004
|
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter)
|
rs775935766
|
0.00003
|
NM_020366.4(RPGRIP1):c.3100-1G>A
|
rs371900300
|
0.00003
|
NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg)
|
rs535922252
|
0.00002
|
NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter)
|
rs1030149008
|
0.00002
|
NM_020366.4(RPGRIP1):c.1467+1G>A
|
rs1167313603
|
0.00001
|
NM_020366.4(RPGRIP1):c.1763-2A>G
|
rs771106795
|
0.00001
|
NM_020366.4(RPGRIP1):c.2236G>A (p.Gly746Arg)
|
rs535695411
|
0.00001
|
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)
|
rs780667159
|
0.00001
|
NM_020366.4(RPGRIP1):c.3533-2A>G
|
rs1416794391
|
0.00001
|
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln)
|
rs758239674
|
0.00001
|
NM_020366.4(RPGRIP1):c.86-1G>A
|
rs200968268
|
0.00001
|
NM_020366.4(RPGRIP1):c.931-2A>G
|
rs374188857
|
0.00001
|
NC_000014.8:g.(?_21766946)_(21770647_?)del
|
|
|
NC_000014.8:g.(?_21769105)_(21794352_?)dup
|
|
|
NC_000014.8:g.(?_21798388)_(21798566_?)dup
|
|
|
NC_000014.8:g.(?_21819243)_(21819375_?)del
|
|
|
NC_000014.9:g.(?_21317696)_(21330387_?)dup
|
|
|
NC_000014.9:g.(?_21320017)_(21334705_?)dup
|
|
|
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs)
|
rs776880045
|
|
NM_020366.4(RPGRIP1):c.1152-1749_1763-1241del
|
|
|
NM_020366.4(RPGRIP1):c.14_29dup (p.Asp11fs)
|
rs1181453325
|
|
NM_020366.4(RPGRIP1):c.1583_1596del (p.Leu528fs)
|
|
|
NM_020366.4(RPGRIP1):c.1611+27G>A
|
rs1594203796
|
|
NM_020366.4(RPGRIP1):c.1612-2A>G
|
|
|
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs)
|
rs1420750126
|
|
NM_020366.4(RPGRIP1):c.2021C>A (p.Pro674His)
|
|
|
NM_020366.4(RPGRIP1):c.219-2A>G
|
rs1880999471
|
|
NM_020366.4(RPGRIP1):c.2215+2T>C
|
|
|
NM_020366.4(RPGRIP1):c.2216-1G>A
|
rs970696880
|
|
NM_020366.4(RPGRIP1):c.2237G>A (p.Gly746Glu)
|
rs61751268
|
|
NM_020366.4(RPGRIP1):c.2367+23del
|
rs781728563
|
|
NM_020366.4(RPGRIP1):c.2386del (p.Glu796fs)
|
|
|
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys)
|
rs751521888
|
|
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter)
|
rs776289402
|
|
NM_020366.4(RPGRIP1):c.2795dup (p.Pro932_Glu933insTer)
|
|
|
NM_020366.4(RPGRIP1):c.2988del (p.Glu996fs)
|
rs765001696
|
|
NM_020366.4(RPGRIP1):c.3120G>A (p.Trp1040Ter)
|
rs1555303320
|
|
NM_020366.4(RPGRIP1):c.326G>A (p.Trp109Ter)
|
|
|
NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter)
|
rs2502980632
|
|
NM_020366.4(RPGRIP1):c.3679G>A (p.Gly1227Arg)
|
rs1885763952
|
|
NM_020366.4(RPGRIP1):c.410dup (p.Arg138fs)
|
|
|
NM_020366.4(RPGRIP1):c.487del (p.Arg163fs)
|
rs2502705961
|
|
NM_020366.4(RPGRIP1):c.521C>G (p.Pro174Arg)
|
rs780733881
|
|
NM_020366.4(RPGRIP1):c.673del (p.His225fs)
|
rs752263228
|
|
NM_020366.4(RPGRIP1):c.772G>T (p.Glu258Ter)
|
rs2139160690
|
|
NM_020366.4(RPGRIP1):c.817A>T (p.Lys273Ter)
|
|
|
NM_020366.4(RPGRIP1):c.903_906+17del
|
rs886039911
|
|
NM_020366.4(RPGRIP1):c.906+2T>G
|
rs1594180201
|
|