NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)
|
rs192003551
|
0.00004
|
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)
|
rs1429786931
|
0.00001
|
NM_020366.4(RPGRIP1):c.2895+1G>T
|
rs748072501
|
0.00001
|
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter)
|
rs752175052
|
0.00001
|
NM_020366.3:c.(930+1_931-1)_(1151+1_1152-1)del
|
|
|
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)
|
rs61751266
|
|
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs)
|
rs776880045
|
|
NM_020366.4(RPGRIP1):c.1133dup (p.Tyr378Ter)
|
rs1391335025
|
|
NM_020366.4(RPGRIP1):c.1447C>T (p.Gln483Ter)
|
rs368781265
|
|
NM_020366.4(RPGRIP1):c.1611G>A (p.Gln537=)
|
rs1064797181
|
|
NM_020366.4(RPGRIP1):c.1687C>T (p.Arg563Ter)
|
rs776963292
|
|
NM_020366.4(RPGRIP1):c.2086G>T (p.Glu696Ter)
|
rs1882904268
|
|
NM_020366.4(RPGRIP1):c.2237G>A (p.Gly746Glu)
|
rs61751268
|
|
NM_020366.4(RPGRIP1):c.2239del (p.Val747fs)
|
rs1882946937
|
|
NM_020366.4(RPGRIP1):c.2367+23del
|
rs781728563
|
|
NM_020366.4(RPGRIP1):c.2567_2568dup (p.Val857fs)
|
rs1555302200
|
|
NM_020366.4(RPGRIP1):c.2710+1G>A
|
rs1883084009
|
|
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter)
|
rs776289402
|
|
NM_020366.4(RPGRIP1):c.2876del (p.Lys959fs)
|
rs786205623
|
|
NM_020366.4(RPGRIP1):c.2890del (p.Ser964fs)
|
rs1555302710
|
|
NM_020366.4(RPGRIP1):c.2895+1G>A
|
rs748072501
|
|
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)
|
rs780667159
|
|
NM_020366.4(RPGRIP1):c.3239-1_3241del
|
rs1884133804
|
|
NM_020366.4(RPGRIP1):c.3339+2477_3533-151del
|
|
|
NM_020366.4(RPGRIP1):c.3427del (p.Tyr1143fs)
|
rs1885186332
|
|
NM_020366.4(RPGRIP1):c.3629_3630insG (p.Val1211fs)
|
rs1885757549
|
|
NM_020366.4(RPGRIP1):c.3679G>A (p.Gly1227Arg)
|
rs1885763952
|
|
NM_020366.4(RPGRIP1):c.511del (p.Tyr171fs)
|
rs61751265
|
|
NM_020366.4(RPGRIP1):c.521C>G (p.Pro174Arg)
|
rs780733881
|
|
NM_020366.4(RPGRIP1):c.832C>T (p.Arg278Ter)
|
rs587783018
|
|
NM_020366.4(RPGRIP1):c.895_896del (p.Glu299fs)
|
rs1594180177
|
|
NM_020366.4:c.1077+1_3100-1dup
|
|
|