NM_000276.4(OCRL):c.199+16C>G
|
rs5977104
|
0.21795
|
NM_000276.4(OCRL):c.940-12C>T
|
rs141800769
|
0.01112
|
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile)
|
rs61752970
|
0.00495
|
NM_000276.4(OCRL):c.897G>A (p.Met299Ile)
|
rs138260625
|
0.00301
|
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971
|
0.00248
|
NM_000276.4(OCRL):c.1291G>A (p.Asp431Asn)
|
rs137884245
|
0.00169
|
NM_000276.4(OCRL):c.2116-9C>T
|
rs145297701
|
0.00159
|
NM_000276.4(OCRL):c.39+10G>A
|
rs765141317
|
0.00132
|
NM_000276.4(OCRL):c.40-5C>T
|
rs201211377
|
0.00088
|
NM_000276.4(OCRL):c.1602+11G>A
|
rs189554643
|
0.00075
|
NM_000276.4(OCRL):c.239-20T>C
|
rs376289741
|
0.00073
|
NM_000276.4(OCRL):c.1657A>G (p.Ile553Val)
|
rs773281269
|
0.00042
|
NM_000276.4(OCRL):c.954C>T (p.Arg318=)
|
rs149646700
|
0.00035
|
NM_000276.4(OCRL):c.1506T>C (p.Leu502=)
|
rs145936187
|
0.00026
|
NM_000276.4(OCRL):c.2680T>A (p.Phe894Ile)
|
rs147629352
|
0.00024
|
NM_000276.4(OCRL):c.912T>G (p.Gly304=)
|
rs190659938
|
0.00022
|
NM_000276.4(OCRL):c.105G>A (p.Arg35=)
|
rs142321728
|
0.00020
|
NM_000276.4(OCRL):c.152A>G (p.His51Arg)
|
rs764804719
|
0.00020
|
NM_000276.4(OCRL):c.2415C>T (p.Tyr805=)
|
rs377180274
|
0.00014
|
NM_000276.4(OCRL):c.350-5T>C
|
rs200744251
|
0.00014
|
NM_000276.4(OCRL):c.428C>T (p.Ser143Phe)
|
rs760751280
|
0.00014
|
NM_000276.4(OCRL):c.1184C>T (p.Ala395Val)
|
rs145139567
|
0.00013
|
NM_000276.4(OCRL):c.1587C>G (p.Ala529=)
|
rs375634816
|
0.00013
|
NM_000276.4(OCRL):c.2177G>T (p.Gly726Val)
|
rs755071897
|
0.00013
|
NM_000276.4(OCRL):c.351T>G (p.Ala117=)
|
rs764237144
|
0.00011
|
NM_000276.4(OCRL):c.481G>A (p.Asp161Asn)
|
rs372298378
|
0.00011
|
NM_000276.4(OCRL):c.939+8G>A
|
rs369386155
|
0.00011
|
NM_000276.4(OCRL):c.1221G>A (p.Pro407=)
|
rs747651906
|
0.00010
|
NM_000276.4(OCRL):c.72C>G (p.Leu24=)
|
rs772216523
|
0.00009
|
NM_000276.4(OCRL):c.561-7T>A
|
rs376622194
|
0.00008
|
NM_000276.4(OCRL):c.2138A>G (p.Lys713Arg)
|
rs148646884
|
0.00006
|
NM_000276.4(OCRL):c.284G>A (p.Arg95His)
|
rs770375201
|
0.00006
|
NM_000276.4(OCRL):c.1466+16C>T
|
rs750356239
|
0.00005
|
NM_000276.4(OCRL):c.1602G>A (p.Gly534=)
|
rs773214157
|
0.00005
|
NM_000276.4(OCRL):c.2245G>T (p.Ala749Ser)
|
rs751678290
|
0.00005
|
NM_000276.4(OCRL):c.2563G>A (p.Val855Ile)
|
rs376280495
|
0.00005
|
NM_000276.4(OCRL):c.2695G>A (p.Glu899Lys)
|
rs749551841
|
0.00005
|
NM_000276.4(OCRL):c.39+8C>T
|
rs1051771435
|
0.00005
|
NM_000276.4(OCRL):c.50G>C (p.Gly17Ala)
|
rs768913997
|
0.00005
|
NM_000276.4(OCRL):c.1395C>T (p.Asp465=)
|
rs754797006
|
0.00004
|
NM_000276.4(OCRL):c.1467T>C (p.Ser489=)
|
rs142398161
|
0.00004
|
NM_000276.4(OCRL):c.1713+6C>G
|
rs191367057
|
0.00004
|
NM_000276.4(OCRL):c.1943C>T (p.Ser648Leu)
|
rs753260631
|
0.00004
|
NM_000276.4(OCRL):c.2694C>T (p.Ser898=)
|
rs780742903
|
0.00004
|
NM_000276.4(OCRL):c.375G>T (p.Glu125Asp)
|
rs773022942
|
0.00004
|
NM_000276.4(OCRL):c.1416G>A (p.Lys472=)
|
rs367841616
|
0.00003
|
NM_000276.4(OCRL):c.1614G>A (p.Val538=)
|
rs748308192
|
0.00003
|
NM_000276.4(OCRL):c.2427G>A (p.Gln809=)
|
rs145277867
|
0.00003
|
NM_000276.4(OCRL):c.324C>T (p.Leu108=)
|
rs754424104
|
0.00003
|
NM_000276.4(OCRL):c.40A>G (p.Thr14Ala)
|
rs371099243
|
0.00003
|
NM_000276.4(OCRL):c.441G>A (p.Gly147=)
|
rs199624352
|
0.00003
|
NM_000276.4(OCRL):c.1320T>G (p.Asn440Lys)
|
rs761140161
|
0.00002
|
NM_000276.4(OCRL):c.1336A>G (p.Arg446Gly)
|
rs771429717
|
0.00002
|
NM_000276.4(OCRL):c.1431T>C (p.Tyr477=)
|
rs371330116
|
0.00002
|
NM_000276.4(OCRL):c.2066G>A (p.Arg689His)
|
rs748186190
|
0.00002
|
NM_000276.4(OCRL):c.2244C>T (p.Tyr748=)
|
rs781297236
|
0.00002
|
NM_000276.4(OCRL):c.2282T>G (p.Met761Arg)
|
rs1336177262
|
0.00002
|
NM_000276.4(OCRL):c.561-13A>G
|
rs773509037
|
0.00002
|
NM_000276.4(OCRL):c.769G>A (p.Gly257Arg)
|
rs1388273402
|
0.00002
|
NM_000276.4(OCRL):c.963G>A (p.Gly321=)
|
rs763484849
|
0.00002
|
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys)
|
rs137853831
|
0.00001
|
NM_000276.4(OCRL):c.1104C>T (p.Thr368=)
|
rs1457897461
|
0.00001
|
NM_000276.4(OCRL):c.115T>C (p.Tyr39His)
|
rs756670728
|
0.00001
|
NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter)
|
rs398123287
|
0.00001
|
NM_000276.4(OCRL):c.1585G>A (p.Ala529Thr)
|
rs1219583539
|
0.00001
|
NM_000276.4(OCRL):c.1603-12A>G
|
rs1440624100
|
0.00001
|
NM_000276.4(OCRL):c.164T>C (p.Ile55Thr)
|
rs1278754966
|
0.00001
|
NM_000276.4(OCRL):c.1656C>T (p.Arg552=)
|
rs761645724
|
0.00001
|
NM_000276.4(OCRL):c.1880-8C>T
|
rs750041502
|
0.00001
|
NM_000276.4(OCRL):c.1889T>C (p.Val630Ala)
|
rs768629676
|
0.00001
|
NM_000276.4(OCRL):c.1944G>A (p.Ser648=)
|
rs776881376
|
0.00001
|
NM_000276.4(OCRL):c.2009C>T (p.Thr670Ile)
|
rs1936370341
|
0.00001
|
NM_000276.4(OCRL):c.2115+4A>G
|
rs1326476020
|
0.00001
|
NM_000276.4(OCRL):c.2582-9G>A
|
rs2071705
|
0.00001
|
NM_000276.4(OCRL):c.39+16A>C
|
rs1242261409
|
0.00001
|
NM_000276.4(OCRL):c.52A>G (p.Met18Val)
|
rs779021479
|
0.00001
|
NM_000276.4(OCRL):c.560+20A>G
|
rs767279122
|
0.00001
|
NM_000276.4(OCRL):c.768C>T (p.Ser256=)
|
rs1368090073
|
0.00001
|
NM_000276.4(OCRL):c.92C>T (p.Thr31Ile)
|
rs762676076
|
0.00001
|
NC_000023.10:g.(?_128674417)_(128674820_?)del
|
|
|
NC_000023.10:g.(?_128674417)_(128679034_?)dup
|
|
|
NC_000023.10:g.(?_128674417)_(128696783_?)del
|
|
|
NC_000023.10:g.(?_128674417)_(128724247_?)del
|
|
|
NC_000023.10:g.(?_128682520)_(128724247_?)dup
|
|
|
NC_000023.10:g.(?_128699729)_(128701360_?)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.101A>G (p.Gln34Arg)
|
|
|
NM_000276.4(OCRL):c.1024G>T (p.Glu342Ter)
|
|
|
NM_000276.4(OCRL):c.1031T>C (p.Val344Ala)
|
|
|
NM_000276.4(OCRL):c.1050del (p.Met352fs)
|
|
|
NM_000276.4(OCRL):c.1056+19G>T
|
|
|
NM_000276.4(OCRL):c.1057-13C>A
|
|
|
NM_000276.4(OCRL):c.1057-19T>C
|
|
|
NM_000276.4(OCRL):c.1057-2_1057-1del
|
|
|
NM_000276.4(OCRL):c.1057-6T>G
|
|
|
NM_000276.4(OCRL):c.1057-7C>A
|
|
|
NM_000276.4(OCRL):c.1070G>A (p.Gly357Glu)
|
rs137853854
|
|
NM_000276.4(OCRL):c.1082G>T (p.Arg361Ile)
|
rs137853832
|
|
NM_000276.4(OCRL):c.1083A>G (p.Arg361=)
|
|
|
NM_000276.4(OCRL):c.1089A>G (p.Val363=)
|
|
|
NM_000276.4(OCRL):c.1095C>T (p.His365=)
|
|
|
NM_000276.4(OCRL):c.109G>A (p.Gly37Arg)
|
rs767054196
|
|
NM_000276.4(OCRL):c.109G>C (p.Gly37Arg)
|
rs767054196
|
|
NM_000276.4(OCRL):c.1110C>T (p.Cys370=)
|
|
|
NM_000276.4(OCRL):c.1113T>C (p.Ile371=)
|
|
|
NM_000276.4(OCRL):c.1115T>G (p.Val372Gly)
|
rs137853834
|
|
NM_000276.4(OCRL):c.1117A>T (p.Asn373Tyr)
|
rs137853835
|
|
NM_000276.4(OCRL):c.1121C>T (p.Ser374Phe)
|
rs137853836
|
|
NM_000276.4(OCRL):c.1122C>T (p.Ser374=)
|
|
|
NM_000276.4(OCRL):c.1123C>T (p.His375Tyr)
|
rs137853848
|
|
NM_000276.4(OCRL):c.1128G>T (p.Leu376=)
|
|
|
NM_000276.4(OCRL):c.1139T>C (p.Val380Ala)
|
|
|
NM_000276.4(OCRL):c.114A>G (p.Gln38=)
|
|
|
NM_000276.4(OCRL):c.1155A>G (p.Arg385=)
|
|
|
NM_000276.4(OCRL):c.117T>C (p.Tyr39=)
|
|
|
NM_000276.4(OCRL):c.1185G>C (p.Ala395=)
|
|
|
NM_000276.4(OCRL):c.119+11A>G
|
|
|
NM_000276.4(OCRL):c.119+12C>T
|
|
|
NM_000276.4(OCRL):c.119+15G>C
|
|
|
NM_000276.4(OCRL):c.119+8dup
|
|
|
NM_000276.4(OCRL):c.120-17G>A
|
|
|
NM_000276.4(OCRL):c.120-4C>T
|
|
|
NM_000276.4(OCRL):c.120-5C>T
|
|
|
NM_000276.4(OCRL):c.1210C>T (p.Gln404Ter)
|
|
|
NM_000276.4(OCRL):c.1220C>G (p.Pro407Arg)
|
|
|
NM_000276.4(OCRL):c.1222C>T (p.Gln408Ter)
|
|
|
NM_000276.4(OCRL):c.1225T>C (p.Leu409=)
|
|
|
NM_000276.4(OCRL):c.1241A>G (p.His414Arg)
|
rs137853837
|
|
NM_000276.4(OCRL):c.1242T>C (p.His414=)
|
|
|
NM_000276.4(OCRL):c.1244+1338_1366del
|
|
|
NM_000276.4(OCRL):c.1244+13_1244+38del
|
rs1465814805
|
|
NM_000276.4(OCRL):c.1244+13_1244+41delinsAAA
|
rs2124406244
|
|
NM_000276.4(OCRL):c.1244+14T>C
|
|
|
NM_000276.4(OCRL):c.1244+1G>A
|
rs1936163310
|
|
NM_000276.4(OCRL):c.1244+20_1244+26dup
|
|
|
NM_000276.4(OCRL):c.1244+8G>T
|
|
|
NM_000276.4(OCRL):c.1245-10dup
|
|
|
NM_000276.4(OCRL):c.1245-18C>T
|
|
|
NM_000276.4(OCRL):c.1245-20T>G
|
|
|
NM_000276.4(OCRL):c.1245-7T>C
|
|
|
NM_000276.4(OCRL):c.1262G>A (p.Gly421Glu)
|
rs137853855
|
|
NM_000276.4(OCRL):c.1270A>G (p.Asn424Asp)
|
rs137853856
|
|
NM_000276.4(OCRL):c.1281T>C (p.Leu427=)
|
|
|
NM_000276.4(OCRL):c.129C>T (p.Ile43=)
|
|
|
NM_000276.4(OCRL):c.1320T>C (p.Asn440=)
|
|
|
NM_000276.4(OCRL):c.1329C>T (p.Asp443=)
|
|
|
NM_000276.4(OCRL):c.1330C>T (p.Leu444Phe)
|
|
|
NM_000276.4(OCRL):c.1341C>G (p.Leu447=)
|
|
|
NM_000276.4(OCRL):c.1350C>T (p.Phe450=)
|
|
|
NM_000276.4(OCRL):c.1351G>A (p.Asp451Asn)
|
rs137853838
|
|
NM_000276.4(OCRL):c.1352A>G (p.Asp451Gly)
|
rs137853850
|
|
NM_000276.4(OCRL):c.1353C>T (p.Asp451=)
|
|
|
NM_000276.4(OCRL):c.1355A>G (p.Gln452Arg)
|
rs1936210819
|
|
NM_000276.4(OCRL):c.1356+17T>C
|
|
|
NM_000276.4(OCRL):c.1356+7A>G
|
|
|
NM_000276.4(OCRL):c.1357-10C>G
|
|
|
NM_000276.4(OCRL):c.1357-14C>T
|
|
|
NM_000276.4(OCRL):c.1359A>C (p.Leu453=)
|
|
|
NM_000276.4(OCRL):c.1367A>C (p.Gln456Pro)
|
rs1569460215
|
|
NM_000276.4(OCRL):c.1367A>G (p.Gln456Arg)
|
|
|
NM_000276.4(OCRL):c.1369C>G (p.Arg457Gly)
|
rs137853839
|
|
NM_000276.4(OCRL):c.1369C>T (p.Arg457Cys)
|
rs137853839
|
|
NM_000276.4(OCRL):c.1370G>C (p.Arg457Pro)
|
rs1602791150
|
|
NM_000276.4(OCRL):c.1374A>T (p.Thr458=)
|
|
|
NM_000276.4(OCRL):c.1380A>G (p.Lys460=)
|
|
|
NM_000276.4(OCRL):c.1386T>C (p.Ala462=)
|
|
|
NM_000276.4(OCRL):c.1388T>C (p.Phe463Ser)
|
rs137853851
|
|
NM_000276.4(OCRL):c.1389T>C (p.Phe463=)
|
|
|
NM_000276.4(OCRL):c.1391T>C (p.Val464Ala)
|
|
|
NM_000276.4(OCRL):c.1393G>C (p.Asp465His)
|
|
|
NM_000276.4(OCRL):c.1399A>T (p.Asn467Tyr)
|
|
|
NM_000276.4(OCRL):c.1402G>A (p.Glu468Lys)
|
rs137853840
|
|
NM_000276.4(OCRL):c.1403A>G (p.Glu468Gly)
|
rs137853841
|
|
NM_000276.4(OCRL):c.1419C>T (p.Phe473=)
|
|
|
NM_000276.4(OCRL):c.1442_1443del (p.Asp480_Ser481insTer)
|
rs1602791255
|
|
NM_000276.4(OCRL):c.1449A>C (p.Thr483=)
|
|
|
NM_000276.4(OCRL):c.1454G>A (p.Arg485Gln)
|
|
|
NM_000276.4(OCRL):c.1454G>C (p.Arg485Pro)
|
rs993587899
|
|
NM_000276.4(OCRL):c.1466+12A>G
|
|
|
NM_000276.4(OCRL):c.1466+1G>A
|
rs1936229983
|
|
NM_000276.4(OCRL):c.1466+20C>T
|
|
|
NM_000276.4(OCRL):c.1467-11T>G
|
|
|
NM_000276.4(OCRL):c.1467-12_1467-9dup
|
|
|
NM_000276.4(OCRL):c.1467-16G>A
|
|
|
NM_000276.4(OCRL):c.1467-16del
|
|
|
NM_000276.4(OCRL):c.1467-3C>G
|
rs779822028
|
|
NM_000276.4(OCRL):c.1467-4dup
|
|
|
NM_000276.4(OCRL):c.1470G>A (p.Gly490=)
|
|
|
NM_000276.4(OCRL):c.1478G>A (p.Arg493Gln)
|
|
|
NM_000276.4(OCRL):c.1479G>A (p.Arg493=)
|
|
|
NM_000276.4(OCRL):c.1492T>C (p.Cys498Arg)
|
|
|
NM_000276.4(OCRL):c.1493G>A (p.Cys498Tyr)
|
rs137853857
|
|
NM_000276.4(OCRL):c.1495G>C (p.Asp499His)
|
rs137853842
|
|
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln)
|
rs137853260
|
|
NM_000276.4(OCRL):c.1507T>C (p.Trp503Arg)
|
rs137853843
|
|
NM_000276.4(OCRL):c.1513G>A (p.Gly505Arg)
|
|
|
NM_000276.4(OCRL):c.1514G>A (p.Gly505Glu)
|
rs1569460717
|
|
NM_000276.4(OCRL):c.1516A>G (p.Thr506Ala)
|
|
|
NM_000276.4(OCRL):c.1518A>G (p.Thr506=)
|
|
|
NM_000276.4(OCRL):c.1522G>A (p.Val508Ile)
|
|
|
NM_000276.4(OCRL):c.1523T>A (p.Val508Asp)
|
rs137853849
|
|
NM_000276.4(OCRL):c.1526A>C (p.Asn509Thr)
|
|
|
NM_000276.4(OCRL):c.1538A>G (p.Tyr513Cys)
|
rs137853847
|
|
NM_000276.4(OCRL):c.153T>A (p.His51Gln)
|
rs1392543051
|
|
NM_000276.4(OCRL):c.1541G>A (p.Arg514Gln)
|
|
|
NM_000276.4(OCRL):c.1566C>G (p.Ser522Arg)
|
rs137853853
|
|
NM_000276.4(OCRL):c.1566C>T (p.Ser522=)
|
|
|
NM_000276.4(OCRL):c.1567G>A (p.Asp523Asn)
|
rs2124412861
|
|
NM_000276.4(OCRL):c.1571A>G (p.His524Arg)
|
rs137853852
|
|
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.1584C>T (p.Ser528=)
|
|
|
NM_000276.4(OCRL):c.1586C>A (p.Ala529Asp)
|
|
|
NM_000276.4(OCRL):c.1595A>G (p.His532Arg)
|
|
|
NM_000276.4(OCRL):c.1602+15G>T
|
|
|
NM_000276.4(OCRL):c.1602+17A>T
|
rs2124412959
|
|
NM_000276.4(OCRL):c.1602+1G>T
|
rs2124412937
|
|
NM_000276.4(OCRL):c.1602+5A>G
|
|
|
NM_000276.4(OCRL):c.1603-13C>T
|
|
|
NM_000276.4(OCRL):c.1603-20G>A
|
|
|
NM_000276.4(OCRL):c.1603-4T>C
|
|
|
NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter)
|
rs1182741031
|
|
NM_000276.4(OCRL):c.1626G>A (p.Arg542=)
|
|
|
NM_000276.4(OCRL):c.1631G>A (p.Arg544Gln)
|
|
|
NM_000276.4(OCRL):c.163A>G (p.Ile55Val)
|
|
|
NM_000276.4(OCRL):c.1653A>G (p.Val551=)
|
|
|
NM_000276.4(OCRL):c.1655G>A (p.Arg552His)
|
rs2124417872
|
|
NM_000276.4(OCRL):c.165C>A (p.Ile55=)
|
|
|
NM_000276.4(OCRL):c.1666A>C (p.Arg556=)
|
|
|
NM_000276.4(OCRL):c.1666A>G (p.Arg556Gly)
|
|
|
NM_000276.4(OCRL):c.1696G>T (p.Glu566Ter)
|
|
|
NM_000276.4(OCRL):c.1710G>A (p.Arg570=)
|
|
|
NM_000276.4(OCRL):c.1712del (p.Glu571fs)
|
|
|
NM_000276.4(OCRL):c.1713+1G>A
|
|
|
NM_000276.4(OCRL):c.1713+7A>G
|
|
|
NM_000276.4(OCRL):c.1714-10T>C
|
|
|
NM_000276.4(OCRL):c.1714-14C>T
|
|
|
NM_000276.4(OCRL):c.1714-17T>C
|
|
|
NM_000276.4(OCRL):c.1714-18C>G
|
|
|
NM_000276.4(OCRL):c.1714-18C>T
|
|
|
NM_000276.4(OCRL):c.1714-1G>A
|
rs794727182
|
|
NM_000276.4(OCRL):c.1714-2A>G
|
|
|
NM_000276.4(OCRL):c.1714-4C>T
|
|
|
NM_000276.4(OCRL):c.1714-6C>T
|
|
|
NM_000276.4(OCRL):c.1714-7T>C
|
|
|
NM_000276.4(OCRL):c.1714-8T>C
|
|
|
NM_000276.4(OCRL):c.1714-9del
|
|
|
NM_000276.4(OCRL):c.1725A>G (p.Glu575=)
|
|
|
NM_000276.4(OCRL):c.1731G>A (p.Val577=)
|
|
|
NM_000276.4(OCRL):c.1739G>A (p.Arg580Gln)
|
|
|
NM_000276.4(OCRL):c.1753_1755del (p.Glu585del)
|
rs1936362098
|
|
NM_000276.4(OCRL):c.1754A>G (p.Glu585Gly)
|
|
|
NM_000276.4(OCRL):c.1758G>A (p.Lys586=)
|
|
|
NM_000276.4(OCRL):c.1764G>A (p.Gln588=)
|
|
|
NM_000276.4(OCRL):c.1773C>A (p.Asn591Lys)
|
rs137853844
|
|
NM_000276.4(OCRL):c.1775A>T (p.Asn592Ile)
|
|
|
NM_000276.4(OCRL):c.179G>A (p.Ser60Asn)
|
|
|
NM_000276.4(OCRL):c.1812A>G (p.Lys604=)
|
|
|
NM_000276.4(OCRL):c.181C>T (p.His61Tyr)
|
rs2124388046
|
|
NM_000276.4(OCRL):c.1821C>T (p.Asp607=)
|
|
|
NM_000276.4(OCRL):c.1822dup (p.Ser608fs)
|
|
|
NM_000276.4(OCRL):c.182A>G (p.His61Arg)
|
|
|
NM_000276.4(OCRL):c.183C>T (p.His61=)
|
|
|
NM_000276.4(OCRL):c.1863G>A (p.Glu621=)
|
|
|
NM_000276.4(OCRL):c.1879+19A>G
|
|
|
NM_000276.4(OCRL):c.1879+2T>G
|
|
|
NM_000276.4(OCRL):c.1880-19A>G
|
|
|
NM_000276.4(OCRL):c.1880-7A>G
|
|
|
NM_000276.4(OCRL):c.1880-9A>C
|
|
|
NM_000276.4(OCRL):c.1882G>A (p.Glu628Lys)
|
|
|
NM_000276.4(OCRL):c.1887A>G (p.Thr629=)
|
|
|
NM_000276.4(OCRL):c.1893C>A (p.Asp631Glu)
|
|
|
NM_000276.4(OCRL):c.1898C>T (p.Ser633Phe)
|
|
|
NM_000276.4(OCRL):c.1905T>C (p.Asp635=)
|
|
|
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.1926T>C (p.Ser642=)
|
|
|
NM_000276.4(OCRL):c.1956G>A (p.Lys652=)
|
|
|
NM_000276.4(OCRL):c.1971C>A (p.Leu657=)
|
|
|
NM_000276.4(OCRL):c.1971C>T (p.Leu657=)
|
|
|
NM_000276.4(OCRL):c.1972G>A (p.Val658Ile)
|
|
|
NM_000276.4(OCRL):c.1974C>T (p.Val658=)
|
rs781410604
|
|
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.1988G>T (p.Arg663Leu)
|
rs745885693
|
|
NM_000276.4(OCRL):c.199+10T>C
|
|
|
NM_000276.4(OCRL):c.199+20A>G
|
|
|
NM_000276.4(OCRL):c.200-11T>C
|
|
|
NM_000276.4(OCRL):c.200-11dup
|
rs765652296
|
|
NM_000276.4(OCRL):c.200-3del
|
|
|
NM_000276.4(OCRL):c.200-4T>C
|
|
|
NM_000276.4(OCRL):c.200-4_200-3del
|
rs753117153
|
|
NM_000276.4(OCRL):c.200-7C>T
|
|
|
NM_000276.4(OCRL):c.200-7dup
|
|
|
NM_000276.4(OCRL):c.2007G>A (p.Leu669=)
|
|
|
NM_000276.4(OCRL):c.2016T>C (p.Ser672=)
|
rs1012694347
|
|
NM_000276.4(OCRL):c.2049C>T (p.Ser683=)
|
|
|
NM_000276.4(OCRL):c.2051_2055delinsCTA (p.Leu684fs)
|
|
|
NM_000276.4(OCRL):c.2058T>C (p.Ala686=)
|
|
|
NM_000276.4(OCRL):c.207A>G (p.Glu69=)
|
|
|
NM_000276.4(OCRL):c.2083C>T (p.Arg695Ter)
|
rs2124419087
|
|
NM_000276.4(OCRL):c.2086G>A (p.Glu696Lys)
|
rs2124419096
|
|
NM_000276.4(OCRL):c.2097T>G (p.Val699=)
|
|
|
NM_000276.4(OCRL):c.2106C>T (p.Leu702=)
|
|
|
NM_000276.4(OCRL):c.2112C>T (p.Asp704=)
|
|
|
NM_000276.4(OCRL):c.2115+15A>G
|
|
|
NM_000276.4(OCRL):c.2116-11T>A
|
rs2124426123
|
|
NM_000276.4(OCRL):c.2116-14T>C
|
|
|
NM_000276.4(OCRL):c.2116-16C>T
|
|
|
NM_000276.4(OCRL):c.2116-16_2116-12del
|
|
|
NM_000276.4(OCRL):c.2116-8G>A
|
|
|
NM_000276.4(OCRL):c.2116-8G>T
|
|
|
NM_000276.4(OCRL):c.2132T>G (p.Leu711Arg)
|
|
|
NM_000276.4(OCRL):c.2136A>G (p.Glu712=)
|
|
|
NM_000276.4(OCRL):c.2139+13A>G
|
|
|
NM_000276.4(OCRL):c.2139+17G>A
|
|
|
NM_000276.4(OCRL):c.2139+20G>A
|
|
|
NM_000276.4(OCRL):c.2139+7C>T
|
|
|
NM_000276.4(OCRL):c.2139+9A>G
|
|
|
NM_000276.4(OCRL):c.2140-12T>C
|
|
|
NM_000276.4(OCRL):c.2140-18T>C
|
|
|
NM_000276.4(OCRL):c.2145A>G (p.Lys715=)
|
|
|
NM_000276.4(OCRL):c.2151T>G (p.Leu717=)
|
|
|
NM_000276.4(OCRL):c.2154G>T (p.Leu718=)
|
|
|
NM_000276.4(OCRL):c.2199G>A (p.Gln733=)
|
|
|
NM_000276.4(OCRL):c.2214C>G (p.Ile738Met)
|
|
|
NM_000276.4(OCRL):c.2214C>T (p.Ile738=)
|
|
|
NM_000276.4(OCRL):c.2256+10_2256+11del
|
|
|
NM_000276.4(OCRL):c.2256+12T>C
|
|
|
NM_000276.4(OCRL):c.2256+17del
|
|
|
NM_000276.4(OCRL):c.2256+18T>C
|
|
|
NM_000276.4(OCRL):c.2256+1G>T
|
rs2124428298
|
|
NM_000276.4(OCRL):c.2256+20C>T
|
|
|
NM_000276.4(OCRL):c.2256+6T>C
|
|
|
NM_000276.4(OCRL):c.2257-20C>A
|
|
|
NM_000276.4(OCRL):c.2257-2A>T
|
rs2124429175
|
|
NM_000276.4(OCRL):c.2277T>G (p.Pro759=)
|
|
|
NM_000276.4(OCRL):c.2292G>T (p.Glu764Asp)
|
|
|
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.2314C>T (p.Leu772=)
|
|
|
NM_000276.4(OCRL):c.2341+11C>T
|
|
|
NM_000276.4(OCRL):c.2341+12G>A
|
rs756410458
|
|
NM_000276.4(OCRL):c.2341+12G>C
|
|
|
NM_000276.4(OCRL):c.2341C>G (p.Pro781Ala)
|
|
|
NM_000276.4(OCRL):c.2342-10G>A
|
|
|
NM_000276.4(OCRL):c.235A>G (p.Asn79Asp)
|
|
|
NM_000276.4(OCRL):c.2360_2361del (p.Val787fs)
|
rs886039519
|
|
NM_000276.4(OCRL):c.2376C>G (p.Leu792=)
|
|
|
NM_000276.4(OCRL):c.238+19G>A
|
|
|
NM_000276.4(OCRL):c.238+3G>A
|
|
|
NM_000276.4(OCRL):c.238+6T>C
|
|
|
NM_000276.4(OCRL):c.2389G>C (p.Ala797Pro)
|
rs935956958
|
|
NM_000276.4(OCRL):c.238_238+1del
|
|
|
NM_000276.4(OCRL):c.239-3dup
|
|
|
NM_000276.4(OCRL):c.239-4023A>G
|
rs1057515577
|
|
NM_000276.4(OCRL):c.239-4T>A
|
|
|
NM_000276.4(OCRL):c.239-7T>C
|
|
|
NM_000276.4(OCRL):c.2392C>T (p.Leu798=)
|
|
|
NM_000276.4(OCRL):c.2418_2419delinsTA (p.Glu806_Leu807delinsAspMet)
|
rs2124429709
|
|
NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter)
|
rs1569463775
|
|
NM_000276.4(OCRL):c.2429G>A (p.Arg810Gln)
|
|
|
NM_000276.4(OCRL):c.2449G>T (p.Asp817Tyr)
|
|
|
NM_000276.4(OCRL):c.2456G>C (p.Arg819Pro)
|
|
|
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)
|
rs1602819835
|
|
NM_000276.4(OCRL):c.2469+12T>C
|
|
|
NM_000276.4(OCRL):c.2469+13G>A
|
|
|
NM_000276.4(OCRL):c.2469+17T>C
|
|
|
NM_000276.4(OCRL):c.2469+18G>A
|
|
|
NM_000276.4(OCRL):c.2469+1G>A
|
rs1936553500
|
|
NM_000276.4(OCRL):c.2469+4G>T
|
|
|
NM_000276.4(OCRL):c.2469+8C>T
|
|
|
NM_000276.4(OCRL):c.2470-16C>G
|
|
|
NM_000276.4(OCRL):c.2470-1G>A
|
rs1602820970
|
|
NM_000276.4(OCRL):c.2470-4A>G
|
|
|
NM_000276.4(OCRL):c.2470-9T>A
|
|
|
NM_000276.4(OCRL):c.2470_2581del (p.Val824Leufs*9)
|
rs2124430398
|
|
NM_000276.4(OCRL):c.2478C>T (p.Ser826=)
|
rs1936564599
|
|
NM_000276.4(OCRL):c.2479C>T (p.Gln827Ter)
|
|
|
NM_000276.4(OCRL):c.2487G>A (p.Pro829=)
|
|
|
NM_000276.4(OCRL):c.2490A>G (p.Arg830=)
|
|
|
NM_000276.4(OCRL):c.2510G>A (p.Arg837His)
|
|
|
NM_000276.4(OCRL):c.2523A>G (p.Ala841=)
|
|
|
NM_000276.4(OCRL):c.2529T>C (p.Leu843=)
|
|
|
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter)
|
rs387906484
|
|
NM_000276.4(OCRL):c.2531G>A (p.Arg844Gln)
|
|
|
NM_000276.4(OCRL):c.2535A>G (p.Glu845=)
|
|
|
NM_000276.4(OCRL):c.2553A>G (p.Glu851=)
|
|
|
NM_000276.4(OCRL):c.2556C>T (p.Tyr852=)
|
|
|
NM_000276.4(OCRL):c.2562C>T (p.Ser854=)
|
|
|
NM_000276.4(OCRL):c.2581+15T>G
|
|
|
NM_000276.4(OCRL):c.2581+16G>A
|
|
|
NM_000276.4(OCRL):c.2581+19A>C
|
|
|
NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr)
|
|
|
NM_000276.4(OCRL):c.2581G>C (p.Ala861Pro)
|
rs2124430527
|
|
NM_000276.4(OCRL):c.2581G>T (p.Ala861Ser)
|
|
|
NM_000276.4(OCRL):c.2582-10C>T
|
|
|
NM_000276.4(OCRL):c.2582-18C>T
|
|
|
NM_000276.4(OCRL):c.2582-3T>A
|
rs2124430712
|
|
NM_000276.4(OCRL):c.2586T>A (p.Thr862=)
|
|
|
NM_000276.4(OCRL):c.2587C>G (p.Leu863Val)
|
rs2124430719
|
|
NM_000276.4(OCRL):c.2593A>G (p.Thr865Ala)
|
|
|
NM_000276.4(OCRL):c.2607G>A (p.Leu869=)
|
|
|
NM_000276.4(OCRL):c.2613T>C (p.Pro871=)
|
|
|
NM_000276.4(OCRL):c.2620A>G (p.Asn874Asp)
|
|
|
NM_000276.4(OCRL):c.2621A>G (p.Asn874Ser)
|
|
|
NM_000276.4(OCRL):c.2627T>A (p.Met876Lys)
|
|
|
NM_000276.4(OCRL):c.2635C>T (p.Gln879Ter)
|
rs1556359544
|
|
NM_000276.4(OCRL):c.2657G>A (p.Arg886His)
|
|
|
NM_000276.4(OCRL):c.2658T>A (p.Arg886=)
|
|
|
NM_000276.4(OCRL):c.265G>C (p.Asp89His)
|
|
|
NM_000276.4(OCRL):c.2672T>G (p.Leu891Arg)
|
rs137853845
|
|
NM_000276.4(OCRL):c.283C>T (p.Arg95Cys)
|
|
|
NM_000276.4(OCRL):c.311G>C (p.Cys104Ser)
|
|
|
NM_000276.4(OCRL):c.318G>A (p.Lys106=)
|
|
|
NM_000276.4(OCRL):c.332T>C (p.Val111Ala)
|
rs2124401168
|
|
NM_000276.4(OCRL):c.344A>G (p.Gln115Arg)
|
|
|
NM_000276.4(OCRL):c.349+12C>T
|
|
|
NM_000276.4(OCRL):c.349+16G>A
|
|
|
NM_000276.4(OCRL):c.349+17C>T
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NM_000276.4(OCRL):c.349+18G>A
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NM_000276.4(OCRL):c.349+2T>G
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NM_000276.4(OCRL):c.350-10A>C
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NM_000276.4(OCRL):c.350-14C>T
|
rs2124401607
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NM_000276.4(OCRL):c.350-6C>G
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|
NM_000276.4(OCRL):c.350-7T>A
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NM_000276.4(OCRL):c.350-9TC[2]
|
rs1936081749
|
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NM_000276.4(OCRL):c.370C>G (p.Pro124Ala)
|
rs2124401648
|
|
NM_000276.4(OCRL):c.384C>T (p.Asp128=)
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|
NM_000276.4(OCRL):c.39+14A>C
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NM_000276.4(OCRL):c.39+15G>A
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NM_000276.4(OCRL):c.39+15G>C
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NM_000276.4(OCRL):c.39+16_39+19del
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NM_000276.4(OCRL):c.39+17A>C
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NM_000276.4(OCRL):c.39+17A>G
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NM_000276.4(OCRL):c.39+18G>C
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NM_000276.4(OCRL):c.39+19G>A
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NM_000276.4(OCRL):c.39+20G>C
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NM_000276.4(OCRL):c.39+9C>G
|
rs1261991452
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NM_000276.4(OCRL):c.393C>T (p.Ser131=)
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NM_000276.4(OCRL):c.40-11A>G
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NM_000276.4(OCRL):c.40-20C>T
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NM_000276.4(OCRL):c.40-80dup
|
rs369736288
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NM_000276.4(OCRL):c.40-8G>A
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NM_000276.4(OCRL):c.40-8G>T
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NM_000276.4(OCRL):c.405A>G (p.Lys135=)
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NM_000276.4(OCRL):c.411C>T (p.Asp137=)
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NM_000276.4(OCRL):c.417G>A (p.Lys139=)
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NM_000276.4(OCRL):c.423A>G (p.Lys141=)
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NM_000276.4(OCRL):c.427T>C (p.Ser143Pro)
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NM_000276.4(OCRL):c.430G>T (p.Val144Phe)
|
rs1283513096
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NM_000276.4(OCRL):c.431T>C (p.Val144Ala)
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NM_000276.4(OCRL):c.432T>C (p.Val144=)
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NM_000276.4(OCRL):c.437C>T (p.Ser146Leu)
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NM_000276.4(OCRL):c.439+10A>T
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NM_000276.4(OCRL):c.439+10del
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NM_000276.4(OCRL):c.439+11G>T
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NM_000276.4(OCRL):c.439+15C>G
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NM_000276.4(OCRL):c.439+15C>T
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NM_000276.4(OCRL):c.439+7A>G
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NM_000276.4(OCRL):c.439+9A>T
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NM_000276.4(OCRL):c.43G>C (p.Val15Leu)
|
rs2071724829
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NM_000276.4(OCRL):c.440-15G>A
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NM_000276.4(OCRL):c.440G>C (p.Gly147Ala)
|
rs2124402286
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NM_000276.4(OCRL):c.461A>G (p.Asn154Ser)
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NM_000276.4(OCRL):c.471T>A (p.Ser157=)
|
rs747396791
|
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NM_000276.4(OCRL):c.471T>G (p.Ser157=)
|
rs747396791
|
|
NM_000276.4(OCRL):c.474G>A (p.Met158Ile)
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NM_000276.4(OCRL):c.510T>C (p.Pro170=)
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NM_000276.4(OCRL):c.516G>T (p.Gly172=)
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NM_000276.4(OCRL):c.520C>T (p.His174Tyr)
|
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NM_000276.4(OCRL):c.548C>T (p.Ser183Leu)
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NM_000276.4(OCRL):c.560+10A>T
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NM_000276.4(OCRL):c.560+19C>T
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NM_000276.4(OCRL):c.560+1G>C
|
rs1569458883
|
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NM_000276.4(OCRL):c.560+8C>G
|
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NM_000276.4(OCRL):c.561-17T>C
|
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NM_000276.4(OCRL):c.561-8T>G
|
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NM_000276.4(OCRL):c.561G>A (p.Met187Ile)
|
rs916507337
|
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NM_000276.4(OCRL):c.568C>T (p.Arg190Cys)
|
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NM_000276.4(OCRL):c.569G>A (p.Arg190His)
|
rs776946722
|
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NM_000276.4(OCRL):c.569G>C (p.Arg190Pro)
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NM_000276.4(OCRL):c.571G>C (p.Glu191Gln)
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NM_000276.4(OCRL):c.574A>G (p.Lys192Glu)
|
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NM_000276.4(OCRL):c.577_578del (p.Glu193fs)
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NM_000276.4(OCRL):c.587A>C (p.Asn196Thr)
|
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NM_000276.4(OCRL):c.594G>A (p.Glu198=)
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NM_000276.4(OCRL):c.601A>G (p.Lys201Glu)
|
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|
NM_000276.4(OCRL):c.610_1244+348del
|
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NM_000276.4(OCRL):c.625C>T (p.Leu209Phe)
|
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NM_000276.4(OCRL):c.639T>C (p.Asn213=)
|
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NM_000276.4(OCRL):c.642C>G (p.Thr214=)
|
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|
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.660G>A (p.Glu220=)
|
|
|
NM_000276.4(OCRL):c.662G>T (p.Gly221Val)
|
|
|
NM_000276.4(OCRL):c.663del (p.Leu222fs)
|
rs2124402639
|
|
NM_000276.4(OCRL):c.666C>T (p.Leu222=)
|
|
|
NM_000276.4(OCRL):c.671A>G (p.Lys224Arg)
|
|
|
NM_000276.4(OCRL):c.676_677del (p.Ile226fs)
|
rs1602782195
|
|
NM_000276.4(OCRL):c.678C>T (p.Ile226=)
|
|
|
NM_000276.4(OCRL):c.67C>T (p.Pro23Ser)
|
|
|
NM_000276.4(OCRL):c.708C>T (p.Asn236=)
|
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NM_000276.4(OCRL):c.722+11C>T
|
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|
NM_000276.4(OCRL):c.722G>A (p.Arg241Lys)
|
|
|
NM_000276.4(OCRL):c.722G>C (p.Arg241Thr)
|
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NM_000276.4(OCRL):c.723-14G>A
|
|
|
NM_000276.4(OCRL):c.723-15C>T
|
|
|
NM_000276.4(OCRL):c.723-1G>A
|
rs2124404113
|
|
NM_000276.4(OCRL):c.725T>C (p.Phe242Ser)
|
rs137853828
|
|
NM_000276.4(OCRL):c.739del (p.Trp247fs)
|
rs2124404136
|
|
NM_000276.4(OCRL):c.741G>A (p.Trp247Ter)
|
rs1936131926
|
|
NM_000276.4(OCRL):c.746T>G (p.Val249Gly)
|
rs1602783417
|
|
NM_000276.4(OCRL):c.74G>C (p.Arg25Pro)
|
|
|
NM_000276.4(OCRL):c.75G>A (p.Arg25=)
|
|
|
NM_000276.4(OCRL):c.775G>C (p.Glu259Gln)
|
|
|
NM_000276.4(OCRL):c.789C>T (p.Asn263=)
|
|
|
NM_000276.4(OCRL):c.78G>A (p.Glu26=)
|
|
|
NM_000276.4(OCRL):c.799A>G (p.Asn267Asp)
|
|
|
NM_000276.4(OCRL):c.800A>G (p.Asn267Ser)
|
|
|
NM_000276.4(OCRL):c.801T>C (p.Asn267=)
|
|
|
NM_000276.4(OCRL):c.809A>G (p.Asp270Gly)
|
rs1936133194
|
|
NM_000276.4(OCRL):c.810T>C (p.Asp270=)
|
|
|
NM_000276.4(OCRL):c.820A>G (p.Ile274Val)
|
|
|
NM_000276.4(OCRL):c.820del (p.Ile274fs)
|
rs2124404250
|
|
NM_000276.4(OCRL):c.821T>C (p.Ile274Thr)
|
rs137853829
|
|
NM_000276.4(OCRL):c.824G>C (p.Gly275Ala)
|
rs1602783564
|
|
NM_000276.4(OCRL):c.825-19A>C
|
|
|
NM_000276.4(OCRL):c.825-20C>T
|
|
|
NM_000276.4(OCRL):c.830A>G (p.Gln277Arg)
|
rs137853830
|
|
NM_000276.4(OCRL):c.831A>G (p.Gln277=)
|
|
|
NM_000276.4(OCRL):c.834A>G (p.Glu278=)
|
|
|
NM_000276.4(OCRL):c.850G>A (p.Glu284Lys)
|
rs2124404743
|
|
NM_000276.4(OCRL):c.860dup (p.Tyr288fs)
|
rs1556345889
|
|
NM_000276.4(OCRL):c.864C>T (p.Tyr288=)
|
|
|
NM_000276.4(OCRL):c.876G>C (p.Val292=)
|
|
|
NM_000276.4(OCRL):c.888A>G (p.Glu296=)
|
rs2124404797
|
|
NM_000276.4(OCRL):c.904G>T (p.Glu302Ter)
|
rs2124404819
|
|
NM_000276.4(OCRL):c.932A>G (p.Tyr311Cys)
|
|
|
NM_000276.4(OCRL):c.934A>G (p.Lys312Glu)
|
rs1936141520
|
|
NM_000276.4(OCRL):c.939+7C>T
|
|
|
NM_000276.4(OCRL):c.940-11G>A
|
rs776743373
|
|
NM_000276.4(OCRL):c.940-11G>T
|
|
|
NM_000276.4(OCRL):c.940-15C>A
|
|
|
NM_000276.4(OCRL):c.940-4A>G
|
rs2124405755
|
|
NM_000276.4(OCRL):c.943C>T (p.Gln315Ter)
|
|
|
NM_000276.4(OCRL):c.946C>G (p.Leu316Val)
|
|
|
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)
|
rs137853263
|
|
NM_000276.4(OCRL):c.953G>A (p.Arg318His)
|
rs2124405779
|
|
NM_000276.4(OCRL):c.970CTT[1] (p.Leu325del)
|
rs727504056
|
|
NM_000276.4(OCRL):c.982G>A (p.Ala328Thr)
|
|
|
NM_000276.4(OCRL):c.984C>G (p.Ala328=)
|
|
|
NM_000276.4(OCRL):c.985A>T (p.Arg329Ter)
|
|
|
NM_000276.4(OCRL):c.986G>A (p.Arg329Lys)
|
|
|
NM_000276.4(OCRL):c.998G>T (p.Cys333Phe)
|
rs2124405824
|
|
NM_000276.4(OCRL):c.99C>G (p.Ala33=)
|
|
|
OCRL:exon 6-12 del
|
|
|
Single allele
|
|
|