NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_017777.4(MKS1):c.496C>T (p.Arg166Trp)
|
rs201845154
|
0.00034
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_001082538.3(TCTN1):c.341+1G>A
|
rs200241085
|
0.00006
|
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)
|
rs377177061
|
0.00006
|
NM_024809.5(TCTN2):c.267+1G>A
|
rs141752910
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)
|
rs397514753
|
0.00005
|
NM_001378615.1(CC2D2A):c.4553G>A (p.Arg1518Gln)
|
rs200645738
|
0.00005
|
NM_024809.5(TCTN2):c.1612+1G>A
|
rs371537478
|
0.00005
|
NM_001082538.3(TCTN1):c.712+1G>A
|
rs200863258
|
0.00004
|
NM_017777.4(MKS1):c.190+2T>C
|
rs375170572
|
0.00004
|
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)
|
rs386834180
|
0.00004
|
NM_001329943.3(KIAA0586):c.2407T>G (p.Ser803Ala)
|
rs886039806
|
0.00003
|
NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg)
|
rs587779732
|
0.00003
|
NM_001378615.1(CC2D2A):c.4652T>C (p.Leu1551Pro)
|
rs763425007
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1244-1G>T
|
rs1306595038
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2874+1G>C
|
rs753075262
|
0.00003
|
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg)
|
rs386833755
|
0.00002
|
NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His)
|
rs886940102
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3220+1G>A
|
rs969617857
|
0.00002
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
NM_017777.4(MKS1):c.958G>A (p.Val320Ile)
|
rs386834053
|
0.00002
|
NM_025114.4(CEP290):c.181-1G>A
|
rs281865190
|
0.00002
|
NM_153704.6(TMEM67):c.1844G>A (p.Cys615Tyr)
|
rs377160954
|
0.00002
|
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr)
|
rs149475825
|
0.00002
|
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)
|
rs765468645
|
0.00002
|
NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg)
|
rs587779736
|
0.00002
|
NM_001082538.3(TCTN1):c.1104+1G>C
|
rs756402483
|
0.00001
|
NM_001082538.3(TCTN1):c.713-2A>G
|
rs2066444872
|
0.00001
|
NM_001378615.1(CC2D2A):c.2486+1G>C
|
rs386833747
|
0.00001
|
NM_001378615.1(CC2D2A):c.2625G>A (p.Ser875=)
|
rs765873247
|
0.00001
|
NM_001378615.1(CC2D2A):c.438+1G>A
|
rs1453265480
|
0.00001
|
NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg)
|
rs368720062
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1700-1G>A
|
rs1057520790
|
0.00001
|
NM_015272.5(RPGRIP1L):c.230+1G>A
|
rs786204135
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2304+1G>T
|
rs746451396
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3221-2A>G
|
rs200448428
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3617-2A>G
|
rs781683750
|
0.00001
|
NM_015272.5(RPGRIP1L):c.776+1G>A
|
rs771226563
|
0.00001
|
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln)
|
rs778260923
|
0.00001
|
NM_017777.4(MKS1):c.1095+1G>A
|
rs747740477
|
0.00001
|
NM_017777.4(MKS1):c.1096-1G>C
|
rs1401015954
|
0.00001
|
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)
|
rs773684291
|
0.00001
|
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter)
|
rs386834050
|
0.00001
|
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)
|
rs756853299
|
0.00001
|
NM_017777.4(MKS1):c.515+1G>A
|
rs201933838
|
0.00001
|
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)
|
rs386834051
|
0.00001
|
NM_017777.4(MKS1):c.81-1G>A
|
rs12942386
|
0.00001
|
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)
|
rs797045706
|
0.00001
|
NM_025114.4(CEP290):c.1190-2A>G
|
rs200818935
|
0.00001
|
NM_025114.4(CEP290):c.1712-2A>T
|
rs764551108
|
0.00001
|
NM_025114.4(CEP290):c.181-2A>G
|
rs886042359
|
0.00001
|
NM_025114.4(CEP290):c.3309+2T>C
|
rs1007902545
|
0.00001
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
NM_025114.4(CEP290):c.6358-1G>A
|
rs766670248
|
0.00001
|
NM_153704.6(TMEM67):c.1322G>A (p.Arg441His)
|
rs386834183
|
0.00001
|
NM_153704.6(TMEM67):c.1646G>A (p.Arg549His)
|
rs768457119
|
0.00001
|
NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr)
|
rs1281778614
|
0.00001
|
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn)
|
rs797046045
|
0.00001
|
NM_153704.6(TMEM67):c.638G>A (p.Arg213His)
|
rs770605718
|
0.00001
|
NM_153704.6(TMEM67):c.769A>G (p.Met257Val)
|
rs863225227
|
0.00001
|
NC_000004.11:g.(?_15478346)_(15482422_?)del
|
|
|
NC_000012.11:g.(?_111079754)_(111082915_?)del
|
|
|
NC_000012.11:g.(?_88447419)_(88448200_?)dup
|
|
|
NC_000012.11:g.(?_88465051)_(88508979_?)dup
|
|
|
NC_000016.10:g.(?_53656472)_(53687965_?)del
|
|
|
NC_000016.9:g.(?_53672132)_(53679723_?)del
|
|
|
NC_000016.9:g.(?_53720335)_(53721887_?)dup
|
|
|
NC_000016.9:g.(?_53721798)_(53724290_?)del
|
|
|
NC_000016.9:g.(?_53729213)_(53730217_?)dup
|
|
|
NM_001044385.3(TMEM237):c.869+1G>A
|
rs730882231
|
|
NM_001082538.3(TCTN1):c.1104+2T>C
|
|
|
NM_001082538.3(TCTN1):c.1332-1G>C
|
|
|
NM_001082538.3(TCTN1):c.1494+1G>A
|
rs1165243207
|
|
NM_001082538.3(TCTN1):c.1495-2A>G
|
|
|
NM_001082538.3(TCTN1):c.262G>A (p.Asp88Asn)
|
|
|
NM_001082538.3(TCTN1):c.472+1G>C
|
|
|
NM_001082538.3(TCTN1):c.638T>A (p.Leu213Gln)
|
rs2066300090
|
|
NM_001378615.1(CC2D2A):c.1018-1G>A
|
rs1716886666
|
|
NM_001378615.1(CC2D2A):c.123+2T>G
|
|
|
NM_001378615.1(CC2D2A):c.124-1G>C
|
|
|
NM_001378615.1(CC2D2A):c.1359+1G>C
|
|
|
NM_001378615.1(CC2D2A):c.1466+1G>A
|
|
|
NM_001378615.1(CC2D2A):c.1466+2T>C
|
rs770219362
|
|
NM_001378615.1(CC2D2A):c.1467-1G>A
|
|
|
NM_001378615.1(CC2D2A):c.1608-2A>G
|
|
|
NM_001378615.1(CC2D2A):c.1676T>G (p.Leu559Arg)
|
rs754221308
|
|
NM_001378615.1(CC2D2A):c.1765-1G>C
|
|
|
NM_001378615.1(CC2D2A):c.2004-1G>A
|
|
|
NM_001378615.1(CC2D2A):c.2338+2T>C
|
|
|
NM_001378615.1(CC2D2A):c.247+1G>A
|
rs765072583
|
|
NM_001378615.1(CC2D2A):c.248-1G>A
|
rs2108998253
|
|
NM_001378615.1(CC2D2A):c.2486+1G>A
|
|
|
NM_001378615.1(CC2D2A):c.2774G>T (p.Arg925Leu)
|
|
|
NM_001378615.1(CC2D2A):c.2830-1G>A
|
|
|
NM_001378615.1(CC2D2A):c.2923-1G>A
|
|
|
NM_001378615.1(CC2D2A):c.3015-1G>C
|
|
|
NM_001378615.1(CC2D2A):c.3182+1G>A
|
|
|
NM_001378615.1(CC2D2A):c.3183-1G>T
|
rs1719930798
|
|
NM_001378615.1(CC2D2A):c.3310G>A (p.Glu1104Lys)
|
rs2109070604
|
|
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg)
|
rs886059182
|
|
NM_001378615.1(CC2D2A):c.337-2A>C
|
|
|
NM_001378615.1(CC2D2A):c.3399-1G>C
|
|
|
NM_001378615.1(CC2D2A):c.3399-3C>A
|
rs386833753
|
|
NM_001378615.1(CC2D2A):c.3595-1G>T
|
|
|
NM_001378615.1(CC2D2A):c.3929C>T (p.Pro1310Leu)
|
rs1720595936
|
|
NM_001378615.1(CC2D2A):c.3975+1G>T
|
|
|
NM_001378615.1(CC2D2A):c.3975+2T>G
|
|
|
NM_001378615.1(CC2D2A):c.4065+1G>A
|
|
|
NM_001378615.1(CC2D2A):c.4065+2T>C
|
rs1179041639
|
|
NM_001378615.1(CC2D2A):c.4066-1G>A
|
rs867390302
|
|
NM_001378615.1(CC2D2A):c.4179+1G>A
|
rs886044295
|
|
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala)
|
rs863225168
|
|
NM_001378615.1(CC2D2A):c.4303_4314+1del
|
|
|
NM_001378615.1(CC2D2A):c.438+1G>T
|
rs1453265480
|
|
NM_001378615.1(CC2D2A):c.4582C>A (p.Arg1528Ser)
|
|
|
NM_001378615.1(CC2D2A):c.540+1G>A
|
rs1296652053
|
|
NM_001378615.1(CC2D2A):c.717+1G>A
|
|
|
NM_001378615.1(CC2D2A):c.717+1G>T
|
rs1027674181
|
|
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs)
|
rs587777145
|
|
NM_015272.5(RPGRIP1L):c.1030-1G>T
|
rs2151236867
|
|
NM_015272.5(RPGRIP1L):c.1104-2A>G
|
|
|
NM_015272.5(RPGRIP1L):c.1243+2T>G
|
|
|
NM_015272.5(RPGRIP1L):c.1350+1G>A
|
rs761435025
|
|
NM_015272.5(RPGRIP1L):c.1350+1G>T
|
|
|
NM_015272.5(RPGRIP1L):c.1351-2A>C
|
|
|
NM_015272.5(RPGRIP1L):c.1581+1G>A
|
|
|
NM_015272.5(RPGRIP1L):c.1581+2T>C
|
|
|
NM_015272.5(RPGRIP1L):c.1582-1G>C
|
rs750917538
|
|
NM_015272.5(RPGRIP1L):c.1897T>C (p.Cys633Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.2152+1G>C
|
rs1006433886
|
|
NM_015272.5(RPGRIP1L):c.2180G>A (p.Gly727Asp)
|
rs546150528
|
|
NM_015272.5(RPGRIP1L):c.230+1G>T
|
|
|
NM_015272.5(RPGRIP1L):c.2304+1G>A
|
|
|
NM_015272.5(RPGRIP1L):c.2683+1G>T
|
|
|
NM_015272.5(RPGRIP1L):c.2683+2T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2684-1G>A
|
rs2151060257
|
|
NM_015272.5(RPGRIP1L):c.2875-2A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2958+1G>A
|
|
|
NM_015272.5(RPGRIP1L):c.2958+1G>T
|
rs2151056579
|
|
NM_015272.5(RPGRIP1L):c.2959-16_2960del
|
|
|
NM_015272.5(RPGRIP1L):c.3295-2A>G
|
rs1258182460
|
|
NM_015272.5(RPGRIP1L):c.3432+1G>A
|
|
|
NM_015272.5(RPGRIP1L):c.3432+1G>T
|
|
|
NM_015272.5(RPGRIP1L):c.3432+2T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3433-1G>A
|
|
|
NM_015272.5(RPGRIP1L):c.3433-7_3436del
|
rs2150964847
|
|
NM_015272.5(RPGRIP1L):c.3616+1G>A
|
rs1964549409
|
|
NM_015272.5(RPGRIP1L):c.3616+2T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3616+2del
|
rs1964549329
|
|
NM_015272.5(RPGRIP1L):c.441_529+79delinsTGCT
|
|
|
NM_015272.5(RPGRIP1L):c.529+1G>A
|
|
|
NM_015272.5(RPGRIP1L):c.530-1G>C
|
rs2151325787
|
|
NM_015272.5(RPGRIP1L):c.632+1G>A
|
rs1376397728
|
|
NM_015272.5(RPGRIP1L):c.632+1G>T
|
|
|
NM_015272.5(RPGRIP1L):c.632+2T>C
|
rs2151325186
|
|
NM_015272.5(RPGRIP1L):c.633-1G>C
|
rs2151318564
|
|
NM_015272.5(RPGRIP1L):c.776+1G>C
|
|
|
NM_015272.5(RPGRIP1L):c.776+2T>C
|
rs2151317483
|
|
NM_015272.5(RPGRIP1L):c.85+2del
|
|
|
NM_015272.5(RPGRIP1L):c.883-2A>G
|
rs1598375731
|
|
NM_015681.6(B9D1):c.342-1G>T
|
|
|
NM_016464.5(TMEM138):c.134A>G (p.Gln45Arg)
|
rs886039804
|
|
NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)
|
|
|
NM_017777.4(MKS1):c.1025-2A>C
|
rs794727070
|
|
NM_017777.4(MKS1):c.1025-2A>G
|
|
|
NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)
|
|
|
NM_017777.4(MKS1):c.1048C>G (p.Gln350Glu)
|
rs386834041
|
|
NM_017777.4(MKS1):c.1048C>T (p.Gln350Ter)
|
rs386834041
|
|
NM_017777.4(MKS1):c.1071del (p.Cys358fs)
|
rs762377424
|
|
NM_017777.4(MKS1):c.1095+2T>C
|
rs2143756871
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1126dup (p.Thr376fs)
|
rs2143753386
|
|
NM_017777.4(MKS1):c.1166-1G>C
|
rs776174898
|
|
NM_017777.4(MKS1):c.1166-2A>G
|
rs1488635637
|
|
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)
|
rs781423785
|
|
NM_017777.4(MKS1):c.1273+1G>C
|
rs933577333
|
|
NM_017777.4(MKS1):c.1274-2A>C
|
|
|
NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)
|
|
|
NM_017777.4(MKS1):c.1394del (p.Pro465fs)
|
rs865870355
|
|
NM_017777.4(MKS1):c.1399_1407+4del
|
rs2143742869
|
|
NM_017777.4(MKS1):c.1407+1G>A
|
rs1567795088
|
|
NM_017777.4(MKS1):c.1407+2del
|
rs386834042
|
|
NM_017777.4(MKS1):c.1408-1dup
|
rs762668200
|
|
NM_017777.4(MKS1):c.1408-2A>G
|
rs1555596943
|
|
NM_017777.4(MKS1):c.1408-2_1408-1del
|
|
|
NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs)
|
|
|
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs)
|
rs1555596845
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
|
|
|
NM_017777.4(MKS1):c.1489_1490+18delinsGCTTGCACTGTCTGCAGCAG
|
|
|
NM_017777.4(MKS1):c.1490+1G>A
|
rs2143737350
|
|
NM_017777.4(MKS1):c.1490+1G>T
|
|
|
NM_017777.4(MKS1):c.1490G>A (p.Arg497Lys)
|
rs386834045
|
|
NM_017777.4(MKS1):c.1522_1638del117 (p.Arg508_Leu546del)
|
|
|
NM_017777.4(MKS1):c.1589-2A>G
|
|
|
NM_017777.4(MKS1):c.1589-2A>T
|
rs863225207
|
|
NM_017777.4(MKS1):c.184_190del (p.Thr62fs)
|
rs386834046
|
|
NM_017777.4(MKS1):c.190+1G>A
|
|
|
NM_017777.4(MKS1):c.1A>G (p.Met1Val)
|
rs1555601787
|
|
NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)
|
|
|
NM_017777.4(MKS1):c.367dup (p.Arg123fs)
|
rs775043799
|
|
NM_017777.4(MKS1):c.392_393del (p.Asp130_Ser131insTer)
|
rs386834047
|
|
NM_017777.4(MKS1):c.417+1G>A
|
rs756368560
|
|
NM_017777.4(MKS1):c.424C>T (p.Gln142Ter)
|
rs386834049
|
|
NM_017777.4(MKS1):c.435del (p.Thr146fs)
|
|
|
NM_017777.4(MKS1):c.515+2T>G
|
rs1376664664
|
|
NM_017777.4(MKS1):c.516-2A>G
|
rs2143805609
|
|
NM_017777.4(MKS1):c.528_644+12del
|
|
|
NM_017777.4(MKS1):c.537_538del (p.Arg180fs)
|
|
|
NM_017777.4(MKS1):c.632_633del (p.Gly211fs)
|
|
|
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter)
|
rs2143800757
|
|
NM_017777.4(MKS1):c.715_716del (p.Lys239fs)
|
|
|
NM_017777.4(MKS1):c.727_728del (p.Thr243fs)
|
|
|
NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)
|
|
|
NM_017777.4(MKS1):c.80+2T>C
|
rs386834052
|
|
NM_017777.4(MKS1):c.81-2A>G
|
|
|
NM_017777.4(MKS1):c.81-2A>T
|
rs756709080
|
|
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)
|
rs1555599412
|
|
NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)
|
|
|
NM_017777.4(MKS1):c.858+1G>A
|
rs756102768
|
|
NM_017777.4(MKS1):c.859-2A>C
|
|
|
NM_017777.4(MKS1):c.859-2A>T
|
|
|
NM_017777.4(MKS1):c.868_871del (p.Arg290fs)
|
|
|
NM_017777.4(MKS1):c.946_947del (p.Asn316fs)
|
|
|
NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)
|
|
|
NM_017777.4(MKS1):c.959-1G>A
|
|
|
NM_017777.4(MKS1):c.959-2A>G
|
rs1273591389
|
|
NM_017777.4(MKS1):c.992del (p.Tyr331fs)
|
|
|
NM_021807.4(EXOC4):c.1733A>G (p.Gln578Arg)
|
rs730882233
|
|
NM_024715.4(TXNDC15):c.103+1G>A
|
rs886039792
|
|
NM_024715.4(TXNDC15):c.673_687del (p.Ser225_His229del)
|
rs886039791
|
|
NM_024809.5(TCTN2):c.1033+1G>A
|
|
|
NM_024809.5(TCTN2):c.1312+1G>C
|
|
|
NM_024809.5(TCTN2):c.1751T>C (p.Ile584Thr)
|
|
|
NM_024809.5(TCTN2):c.1752A>G (p.Ile584Met)
|
|
|
NM_024809.5(TCTN2):c.1770-2A>G
|
rs1566265412
|
|
NM_024809.5(TCTN2):c.268-2A>G
|
|
|
NM_024809.5(TCTN2):c.565-1G>A
|
|
|
NM_024809.5(TCTN2):c.613G>A (p.Gly205Ser)
|
|
|
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys)
|
rs201827132
|
|
NM_024809.5(TCTN2):c.765-1G>A
|
|
|
NM_024809.5(TCTN2):c.765-1G>C
|
|
|
NM_024809.5(TCTN2):c.82+1G>T
|
|
|
NM_024809.5(TCTN2):c.83-2A>G
|
|
|
NM_024809.5(TCTN2):c.891+1G>A
|
|
|
NM_025114.4(CEP290):c.102+2T>A
|
|
|
NM_025114.4(CEP290):c.102+2T>G
|
rs763226787
|
|
NM_025114.4(CEP290):c.1065+1G>A
|
|
|
NM_025114.4(CEP290):c.1065+1G>C
|
rs2138021203
|
|
NM_025114.4(CEP290):c.1359+1G>A
|
rs935130451
|
|
NM_025114.4(CEP290):c.1360-1G>C
|
|
|
NM_025114.4(CEP290):c.1466T>C (p.Leu489Pro)
|
|
|
NM_025114.4(CEP290):c.148C>T (p.His50Tyr)
|
rs878853363
|
|
NM_025114.4(CEP290):c.1523-1G>T
|
rs1192112844
|
|
NM_025114.4(CEP290):c.1910-1G>A
|
|
|
NM_025114.4(CEP290):c.2041_2052+23del
|
rs2137779120
|
|
NM_025114.4(CEP290):c.2052+1G>A
|
|
|
NM_025114.4(CEP290):c.2052+4A>T
|
|
|
NM_025114.4(CEP290):c.2217+1G>T
|
|
|
NM_025114.4(CEP290):c.2217+2T>C
|
rs2038702746
|
|
NM_025114.4(CEP290):c.2367+2T>C
|
rs2137707354
|
|
NM_025114.4(CEP290):c.2483+1G>A
|
rs2137661795
|
|
NM_025114.4(CEP290):c.250+1G>A
|
|
|
NM_025114.4(CEP290):c.251-1G>C
|
rs2138259162
|
|
NM_025114.4(CEP290):c.251-2A>G
|
rs951979448
|
|
NM_025114.4(CEP290):c.2586_2586+4del
|
|
|
NM_025114.4(CEP290):c.2817+1G>T
|
|
|
NM_025114.4(CEP290):c.2992-2A>C
|
|
|
NM_025114.4(CEP290):c.3103+1G>A
|
|
|
NM_025114.4(CEP290):c.3104-2A>G
|
rs773386777
|
|
NM_025114.4(CEP290):c.3461+1G>A
|
rs766952056
|
|
NM_025114.4(CEP290):c.3573+1G>A
|
|
|
NM_025114.4(CEP290):c.3574-1G>A
|
|
|
NM_025114.4(CEP290):c.3574-2A>G
|
|
|
NM_025114.4(CEP290):c.4030-2A>G
|
rs2036722229
|
|
NM_025114.4(CEP290):c.4194+1G>C
|
|
|
NM_025114.4(CEP290):c.4194+2T>A
|
rs2137247685
|
|
NM_025114.4(CEP290):c.441+1G>A
|
|
|
NM_025114.4(CEP290):c.441+1G>C
|
|
|
NM_025114.4(CEP290):c.442-1G>A
|
|
|
NM_025114.4(CEP290):c.4704+1G>A
|
|
|
NM_025114.4(CEP290):c.4812+1G>A
|
rs2137167420
|
|
NM_025114.4(CEP290):c.4812+1G>T
|
|
|
NM_025114.4(CEP290):c.5013-1G>A
|
|
|
NM_025114.4(CEP290):c.516+1G>A
|
|
|
NM_025114.4(CEP290):c.5227-2A>G
|
|
|
NM_025114.4(CEP290):c.5586+1G>C
|
rs2035880971
|
|
NM_025114.4(CEP290):c.5586+1G>T
|
rs2035880971
|
|
NM_025114.4(CEP290):c.5587-14_5588del
|
|
|
NM_025114.4(CEP290):c.5856-1_5856delinsTT
|
rs2136958216
|
|
NM_025114.4(CEP290):c.5856-2A>C
|
|
|
NM_025114.4(CEP290):c.6011+2T>G
|
|
|
NM_025114.4(CEP290):c.6270+1G>T
|
|
|
NM_025114.4(CEP290):c.6270+2T>C
|
|
|
NM_025114.4(CEP290):c.6271-6_6274del
|
rs2034579427
|
|
NM_025114.4(CEP290):c.6357+1G>A
|
rs1196938557
|
|
NM_025114.4(CEP290):c.6818+2T>C
|
|
|
NM_025114.4(CEP290):c.6818_6818+1dup
|
rs1060499781
|
|
NM_025114.4(CEP290):c.6961-1G>T
|
rs2136637204
|
|
NM_025114.4(CEP290):c.6961-3_6965del
|
|
|
NM_025114.4(CEP290):c.7130-1G>A
|
|
|
NM_025114.4(CEP290):c.832_852+19del
|
rs2138082472
|
|
NM_025114.4(CEP290):c.853-2A>G
|
|
|
NM_025114.4(CEP290):c.853-2A>T
|
|
|
NM_025114.4(CEP290):c.942+1G>A
|
rs2039897317
|
|
NM_025114.4(CEP290):c.942+1G>C
|
rs2039897317
|
|
NM_025114.4(CEP290):c.943-1G>A
|
rs2138025029
|
|
NM_025114.4(CEP290):c.943-1G>C
|
rs2138025029
|
|
NM_138568.4(EXOC3L2):c.398dup (p.Leu134fs)
|
rs886039793
|
|
NM_147127.5(EVC2):c.3870_3893dup (p.Lys1293_Lys1300dup)
|
rs730882232
|
|
NM_153704.6(TMEM67):c.1038G>T (p.Trp346Cys)
|
rs754370463
|
|
NM_153704.6(TMEM67):c.1066-1G>A
|
|
|
NM_153704.6(TMEM67):c.1132-1G>T
|
|
|
NM_153704.6(TMEM67):c.1132-2A>G
|
|
|
NM_153704.6(TMEM67):c.1288+1G>A
|
|
|
NM_153704.6(TMEM67):c.1289-16_1289-12del
|
|
|
NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu)
|
rs386834183
|
|
NM_153704.6(TMEM67):c.1518+2T>C
|
|
|
NM_153704.6(TMEM67):c.1576-2del
|
|
|
NM_153704.6(TMEM67):c.1645C>A (p.Arg549Ser)
|
|
|
NM_153704.6(TMEM67):c.1674+1G>A
|
rs1211156516
|
|
NM_153704.6(TMEM67):c.1675-1G>T
|
|
|
NM_153704.6(TMEM67):c.1774-6_1774-3inv
|
|
|
NM_153704.6(TMEM67):c.1861-1G>A
|
|
|
NM_153704.6(TMEM67):c.2018T>C (p.Val673Ala)
|
|
|
NM_153704.6(TMEM67):c.2086C>G (p.Leu696Val)
|
rs863225238
|
|
NM_153704.6(TMEM67):c.2128A>G (p.Met710Val)
|
rs112261772
|
|
NM_153704.6(TMEM67):c.223+1G>C
|
|
|
NM_153704.6(TMEM67):c.2322+1G>T
|
|
|
NM_153704.6(TMEM67):c.2327C>T (p.Ser776Leu)
|
|
|
NM_153704.6(TMEM67):c.233G>T (p.Cys78Phe)
|
|
|
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly)
|
rs1815059174
|
|
NM_153704.6(TMEM67):c.2764+2T>G
|
|
|
NM_153704.6(TMEM67):c.2879C>T (p.Ala960Val)
|
|
|
NM_153704.6(TMEM67):c.296A>G (p.Lys99Arg)
|
|
|
NM_153704.6(TMEM67):c.329A>T (p.Asp110Val)
|
|
|
NM_153704.6(TMEM67):c.371A>C (p.Glu124Ala)
|
|
|
NM_153704.6(TMEM67):c.406+1G>A
|
|
|
NM_153704.6(TMEM67):c.407-1G>T
|
|
|
NM_153704.6(TMEM67):c.407-2A>G
|
rs2130576231
|
|
NM_153704.6(TMEM67):c.515G>T (p.Arg172Leu)
|
|
|
NM_153704.6(TMEM67):c.576+2T>C
|
|
|
NM_153704.6(TMEM67):c.577-12_577-1delinsAA
|
|
|
NM_153704.6(TMEM67):c.749G>A (p.Gly250Glu)
|
|
|
NM_153704.6(TMEM67):c.754A>G (p.Met252Val)
|
|
|
NM_153704.6(TMEM67):c.869+1G>C
|
|
|
NM_153704.6(TMEM67):c.978+1G>A
|
rs1563458773
|
|