NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter)
|
rs398123287
|
0.00001
|
NC_000023.10:g.(?_128674417)_(128674820_?)del
|
|
|
NC_000023.10:g.(?_128674417)_(128696783_?)del
|
|
|
NC_000023.10:g.(?_128674417)_(128724247_?)del
|
|
|
NC_000023.10:g.(?_128720959)_(128724247_?)del
|
|
|
NC_000023.11:g.(129551601)_129559858del
|
|
|
NC_000023.11:g.129558634del
|
|
|
NC_000023.11:g.129565773del
|
rs2124409486
|
|
NM_000276.3(OCRL):c.-165-?_*2286+?del
|
|
|
NM_000276.3(OCRL):c.-165-?_199+?del
|
|
|
NM_000276.3(OCRL):c.-165-?_238+?del
|
|
|
NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter)
|
rs1556346316
|
|
NM_000276.4(OCRL):c.1024G>T (p.Glu342Ter)
|
|
|
NM_000276.4(OCRL):c.1210C>T (p.Gln404Ter)
|
|
|
NM_000276.4(OCRL):c.1222C>T (p.Gln408Ter)
|
|
|
NM_000276.4(OCRL):c.1244+1G>A
|
rs1936163310
|
|
NM_000276.4(OCRL):c.1442_1443del (p.Asp480_Ser481insTer)
|
rs1602791255
|
|
NM_000276.4(OCRL):c.1492T>C (p.Cys498Arg)
|
|
|
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln)
|
rs137853260
|
|
NM_000276.4(OCRL):c.1567G>A (p.Asp523Asn)
|
rs2124412861
|
|
NM_000276.4(OCRL):c.1572C>G (p.His524Gln)
|
rs137853261
|
|
NM_000276.4(OCRL):c.1576C>T (p.Pro526Ser)
|
rs886039518
|
|
NM_000276.4(OCRL):c.1577C>T (p.Pro526Leu)
|
rs137853858
|
|
NM_000276.4(OCRL):c.1602+1G>T
|
rs2124412937
|
|
NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter)
|
rs1182741031
|
|
NM_000276.4(OCRL):c.1696G>T (p.Glu566Ter)
|
|
|
NM_000276.4(OCRL):c.1712del (p.Glu571fs)
|
|
|
NM_000276.4(OCRL):c.1714-1G>A
|
rs794727182
|
|
NM_000276.4(OCRL):c.1753_1755del (p.Glu585del)
|
rs1936362098
|
|
NM_000276.4(OCRL):c.1822dup (p.Ser608fs)
|
|
|
NM_000276.4(OCRL):c.1907T>A (p.Val636Glu)
|
rs1602802472
|
|
NM_000276.4(OCRL):c.1925_1926del (p.Ser642fs)
|
rs2124418946
|
|
NM_000276.4(OCRL):c.1979A>C (p.His660Pro)
|
rs1602802640
|
|
NM_000276.4(OCRL):c.1987C>T (p.Arg663Ter)
|
rs2124419015
|
|
NM_000276.4(OCRL):c.2083C>T (p.Arg695Ter)
|
rs2124419087
|
|
NM_000276.4(OCRL):c.2257-2A>T
|
rs2124429175
|
|
NM_000276.4(OCRL):c.2299C>T (p.Gln767Ter)
|
rs794727333
|
|
NM_000276.4(OCRL):c.2309_2312del (p.Asp770fs)
|
|
|
NM_000276.4(OCRL):c.2313_2316del (p.Cys771fs)
|
|
|
NM_000276.4(OCRL):c.2360_2361del (p.Val787fs)
|
rs886039519
|
|
NM_000276.4(OCRL):c.2389G>C (p.Ala797Pro)
|
rs935956958
|
|
NM_000276.4(OCRL):c.239-4023A>G
|
rs1057515577
|
|
NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter)
|
rs1569463775
|
|
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)
|
rs1602819835
|
|
NM_000276.4(OCRL):c.2469+1G>A
|
rs1936553500
|
|
NM_000276.4(OCRL):c.2470_2581del (p.Val824Leufs*9)
|
rs2124430398
|
|
NM_000276.4(OCRL):c.2479C>T (p.Gln827Ter)
|
|
|
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter)
|
rs387906484
|
|
NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr)
|
|
|
NM_000276.4(OCRL):c.610_1244+348del
|
|
|
NM_000276.4(OCRL):c.643C>T (p.Gln215Ter)
|
rs1936103770
|
|
NM_000276.4(OCRL):c.659_662del (p.Glu220fs)
|
rs2124402634
|
|
NM_000276.4(OCRL):c.663del (p.Leu222fs)
|
rs2124402639
|
|
NM_000276.4(OCRL):c.676_677del (p.Ile226fs)
|
rs1602782195
|
|
NM_000276.4(OCRL):c.723-1G>A
|
rs2124404113
|
|
NM_000276.4(OCRL):c.739del (p.Trp247fs)
|
rs2124404136
|
|
NM_000276.4(OCRL):c.820del (p.Ile274fs)
|
rs2124404250
|
|
NM_000276.4(OCRL):c.860dup (p.Tyr288fs)
|
rs1556345889
|
|
NM_000276.4(OCRL):c.904G>T (p.Glu302Ter)
|
rs2124404819
|
|
NM_000276.4(OCRL):c.940-11G>A
|
rs776743373
|
|
NM_000276.4(OCRL):c.943C>T (p.Gln315Ter)
|
|
|
NM_000276.4(OCRL):c.953G>A (p.Arg318His)
|
rs2124405779
|
|
OCRL:exon 6-12 del
|
|
|
Single allele
|
|
|