NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_170784.3(MKKS):c.250C>T (p.His84Tyr)
|
rs281797258
|
0.00025
|
NM_176824.3(BBS7):c.968A>G (p.His323Arg)
|
rs119466001
|
0.00010
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)
|
rs74315398
|
0.00006
|
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)
|
rs767068756
|
0.00005
|
NM_017777.4(MKS1):c.190+2T>C
|
rs375170572
|
0.00004
|
NM_025114.4(CEP290):c.4438-3del
|
rs747323414
|
0.00004
|
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)
|
rs1450190654
|
0.00004
|
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)
|
rs754579374
|
0.00004
|
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
|
rs137853105
|
0.00003
|
NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln)
|
rs370716101
|
0.00003
|
NM_176824.3(BBS7):c.1654dup (p.Thr552fs)
|
rs773052355
|
0.00003
|
NM_017777.4(MKS1):c.958G>A (p.Val320Ile)
|
rs386834053
|
0.00002
|
NM_024649.5(BBS1):c.1110+329C>T
|
rs571170303
|
0.00002
|
NM_024649.5(BBS1):c.479+2T>G
|
rs1353098253
|
0.00002
|
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)
|
rs193922709
|
0.00002
|
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)
|
rs758991387
|
0.00002
|
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs)
|
rs767231715
|
0.00002
|
NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter)
|
rs775189201
|
0.00002
|
NM_031885.5(BBS2):c.118G>T (p.Val40Phe)
|
rs886043059
|
0.00002
|
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter)
|
rs914062190
|
0.00002
|
NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter)
|
rs760971749
|
0.00001
|
NM_017777.4(MKS1):c.1095+1G>A
|
rs747740477
|
0.00001
|
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)
|
rs773684291
|
0.00001
|
NM_017777.4(MKS1):c.1497del (p.Phe499fs)
|
rs780161503
|
0.00001
|
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)
|
rs756853299
|
0.00001
|
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)
|
rs797045706
|
0.00001
|
NM_024649.5(BBS1):c.1111-2A>G
|
rs761969357
|
0.00001
|
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)
|
rs121917778
|
0.00001
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
NM_024649.5(BBS1):c.48-2A>C
|
rs764245266
|
0.00001
|
NM_024649.5(BBS1):c.723+1G>C
|
rs1295318869
|
0.00001
|
NM_024685.4(BBS10):c.198-1G>C
|
rs1555202740
|
0.00001
|
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)
|
rs1555202697
|
0.00001
|
NM_025114.4(CEP290):c.1190-2A>G
|
rs200818935
|
0.00001
|
NM_025114.4(CEP290):c.181-2A>G
|
rs886042359
|
0.00001
|
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)
|
rs762633090
|
0.00001
|
NM_025114.4(CEP290):c.307C>T (p.Gln103Ter)
|
rs752144368
|
0.00001
|
NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter)
|
rs1267970567
|
0.00001
|
NM_025114.4(CEP290):c.3309+2T>C
|
rs1007902545
|
0.00001
|
NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter)
|
rs746305733
|
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_025114.4(CEP290):c.6703G>T (p.Glu2235Ter)
|
rs1375836634
|
0.00001
|
NM_031885.5(BBS2):c.1112del (p.Asp371fs)
|
rs1472488128
|
0.00001
|
NM_031885.5(BBS2):c.1946_1952del (p.Asp649fs)
|
rs745951028
|
0.00001
|
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter)
|
rs1597001788
|
0.00001
|
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)
|
rs567573386
|
0.00001
|
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)
|
rs750506474
|
0.00001
|
NM_031885.5(BBS2):c.471G>A (p.Thr157=)
|
rs749983428
|
0.00001
|
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu)
|
rs767373822
|
0.00001
|
NM_031885.5(BBS2):c.940+1del
|
rs746171104
|
0.00001
|
NM_033028.5(BBS4):c.1072_1073del (p.Lys358fs)
|
rs2065896039
|
0.00001
|
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)
|
rs28938468
|
0.00001
|
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly)
|
rs772548770
|
0.00001
|
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)
|
rs1357690062
|
0.00001
|
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)
|
rs776730549
|
0.00001
|
NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter)
|
rs1284876635
|
0.00001
|
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter)
|
rs1194574169
|
0.00001
|
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter)
|
rs745448288
|
0.00001
|
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu)
|
rs779116830
|
0.00001
|
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala)
|
rs74315399
|
0.00001
|
NM_170784.3(MKKS):c.29C>A (p.Ser10Ter)
|
rs758356262
|
0.00001
|
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)
|
rs768929313
|
0.00001
|
NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter)
|
rs1470030897
|
0.00001
|
NM_176824.3(BBS7):c.198T>G (p.Ile66Met)
|
rs367765050
|
0.00001
|
NM_176824.3(BBS7):c.849+1G>C
|
rs763719688
|
0.00001
|
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro)
|
rs889417696
|
0.00001
|
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter)
|
rs762511626
|
0.00001
|
NM_017777.4(MKS1):c.1025-2A>C
|
rs794727070
|
|
NM_017777.4(MKS1):c.1045C>T (p.Gln349Ter)
|
|
|
NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)
|
|
|
NM_017777.4(MKS1):c.1165+2T>C
|
|
|
NM_017777.4(MKS1):c.1166-2A>G
|
rs1488635637
|
|
NM_017777.4(MKS1):c.119_126dup (p.Pro43fs)
|
|
|
NM_017777.4(MKS1):c.1203_1209delinsTCTCT (p.Leu404fs)
|
|
|
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)
|
rs781423785
|
|
NM_017777.4(MKS1):c.1274-2A>C
|
|
|
NM_017777.4(MKS1):c.1394del (p.Pro465fs)
|
rs865870355
|
|
NM_017777.4(MKS1):c.1408-1dup
|
rs762668200
|
|
NM_017777.4(MKS1):c.1447_1490+22del
|
|
|
NM_017777.4(MKS1):c.1490+1G>A
|
rs2143737350
|
|
NM_017777.4(MKS1):c.1501G>T (p.Glu501Ter)
|
|
|
NM_017777.4(MKS1):c.171del (p.Phe57fs)
|
|
|
NM_017777.4(MKS1):c.184_190del (p.Thr62fs)
|
rs386834046
|
|
NM_017777.4(MKS1):c.190+1G>A
|
|
|
NM_017777.4(MKS1):c.259C>T (p.Gln87Ter)
|
|
|
NM_017777.4(MKS1):c.458C>A (p.Ser153Ter)
|
rs903778224
|
|
NM_017777.4(MKS1):c.516-2A>G
|
rs2143805609
|
|
NM_017777.4(MKS1):c.766del (p.Glu256fs)
|
|
|
NM_017777.4(MKS1):c.766dup (p.Glu256fs)
|
|
|
NM_017777.4(MKS1):c.805dup (p.Ser269fs)
|
rs1320893771
|
|
NM_017777.4(MKS1):c.81_82del
|
|
|
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)
|
rs1555599412
|
|
NM_024649.5(BBS1):c.1021delinsGG (p.Arg341fs)
|
|
|
NM_024649.5(BBS1):c.1181_1191del
|
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.1564del (p.Leu522fs)
|
rs2134837160
|
|
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)
|
rs863224782
|
|
NM_024649.5(BBS1):c.159+2del
|
rs1348187150
|
|
NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter)
|
rs1856790811
|
|
NM_024649.5(BBS1):c.319dup (p.Ala107fs)
|
rs1856010064
|
|
NM_024649.5(BBS1):c.406C>T (p.Gln136Ter)
|
rs1856011738
|
|
NM_024649.5(BBS1):c.46dup (p.Ser16fs)
|
|
|
NM_024649.5(BBS1):c.47+2T>G
|
|
|
NM_024649.5(BBS1):c.579dup (p.Ile194fs)
|
|
|
NM_024649.5(BBS1):c.591+1G>A
|
|
|
NM_024649.5(BBS1):c.70_73del (p.Leu24fs)
|
|
|
NM_024649.5(BBS1):c.723+1G>A
|
|
|
NM_024649.5(BBS1):c.723+2T>C
|
|
|
NM_024649.5(BBS1):c.723+2T>G
|
|
|
NM_024649.5(BBS1):c.830+1G>T
|
|
|
NM_024649.5(BBS1):c.831-2A>G
|
rs1057517332
|
|
NM_024649.5(BBS1):c.855dup (p.Ile286fs)
|
|
|
NM_024649.5(BBS1):c.951+2T>G
|
|
|
NM_024649.5(BBS1):c.981del (p.Ala328fs)
|
rs1057516371
|
|
NM_024685.4(BBS10):c.1076del (p.Gln359fs)
|
|
|
NM_024685.4(BBS10):c.1184A>G (p.His395Arg)
|
rs1368733646
|
|
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs)
|
rs1057517156
|
|
NM_024685.4(BBS10):c.1315del (p.Gln439fs)
|
rs1592491950
|
|
NM_024685.4(BBS10):c.1335_1338del (p.Tyr448fs)
|
rs1389599028
|
|
NM_024685.4(BBS10):c.1526_1527dup (p.Thr510fs)
|
|
|
NM_024685.4(BBS10):c.1554_1557del (p.Thr519fs)
|
|
|
NM_024685.4(BBS10):c.1606del (p.Tyr536fs)
|
|
|
NM_024685.4(BBS10):c.1623_1624insGT (p.Lys542fs)
|
|
|
NM_024685.4(BBS10):c.1654_1655del (p.Gly552fs)
|
|
|
NM_024685.4(BBS10):c.1664_1668del (p.Ile555fs)
|
rs1057516669
|
|
NM_024685.4(BBS10):c.1676del (p.Tyr559fs)
|
|
|
NM_024685.4(BBS10):c.1701dup (p.Thr568fs)
|
|
|
NM_024685.4(BBS10):c.171_174dup (p.His59fs)
|
|
|
NM_024685.4(BBS10):c.1724del (p.Pro575fs)
|
rs1057516754
|
|
NM_024685.4(BBS10):c.1860dup (p.Cys621fs)
|
|
|
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter)
|
rs768385647
|
|
NM_024685.4(BBS10):c.1949del (p.Gly650fs)
|
rs769028262
|
|
NM_024685.4(BBS10):c.1959del (p.Pro655fs)
|
rs1057516628
|
|
NM_024685.4(BBS10):c.2024dup (p.Thr676fs)
|
|
|
NM_024685.4(BBS10):c.2052del (p.Lys684fs)
|
rs1951753726
|
|
NM_024685.4(BBS10):c.2137_2140del (p.Lys713fs)
|
rs1555202538
|
|
NM_024685.4(BBS10):c.214_215del (p.Val72fs)
|
rs1057516861
|
|
NM_024685.4(BBS10):c.214_215dup (p.Ser73fs)
|
rs1057516861
|
|
NM_024685.4(BBS10):c.22_35delinsTCAG (p.Ala8fs)
|
|
|
NM_024685.4(BBS10):c.235del (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.253del (p.Thr85fs)
|
|
|
NM_024685.4(BBS10):c.254_255insG (p.Phe86fs)
|
|
|
NM_024685.4(BBS10):c.330_331del (p.Cys110_Glu111delinsTer)
|
|
|
NM_024685.4(BBS10):c.360G>A (p.Trp120Ter)
|
rs1951771573
|
|
NM_024685.4(BBS10):c.461del (p.Leu154fs)
|
|
|
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter)
|
rs553291328
|
|
NM_024685.4(BBS10):c.484G>T (p.Glu162Ter)
|
|
|
NM_024685.4(BBS10):c.488_489del (p.Arg163fs)
|
|
|
NM_024685.4(BBS10):c.568_571del (p.Ile190fs)
|
rs1057516266
|
|
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys)
|
rs756632517
|
|
NM_024685.4(BBS10):c.641T>A (p.Val214Glu)
|
|
|
NM_024685.4(BBS10):c.793C>T (p.Gln265Ter)
|
rs775090151
|
|
NM_024685.4(BBS10):c.807dup (p.Thr270fs)
|
|
|
NM_024685.4(BBS10):c.844_845del (p.Gln282fs)
|
|
|
NM_024685.4(BBS10):c.859C>T (p.Gln287Ter)
|
|
|
NM_024685.4(BBS10):c.899A>C (p.His300Pro)
|
|
|
NM_024685.4(BBS10):c.943C>T (p.Gln315Ter)
|
rs1592492255
|
|
NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys)
|
rs771325212
|
|
NM_024685.4(BBS10):c.963T>G (p.Tyr321Ter)
|
rs1555202662
|
|
NM_024685.4(BBS10):c.992T>C (p.Val331Ala)
|
|
|
NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)
|
|
|
NM_025114.4(CEP290):c.102+2T>A
|
|
|
NM_025114.4(CEP290):c.102+2T>G
|
rs763226787
|
|
NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)
|
|
|
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter)
|
rs2138021345
|
|
NM_025114.4(CEP290):c.1169dup (p.Asn390fs)
|
|
|
NM_025114.4(CEP290):c.1171G>T (p.Glu391Ter)
|
|
|
NM_025114.4(CEP290):c.1225del (p.Ile409fs)
|
rs1287628446
|
|
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs)
|
rs897997464
|
|
NM_025114.4(CEP290):c.1258dup (p.Thr420fs)
|
rs868650061
|
|
NM_025114.4(CEP290):c.1347dup (p.Asp450fs)
|
rs774490795
|
|
NM_025114.4(CEP290):c.1359+1G>A
|
rs935130451
|
|
NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter)
|
rs1437841365
|
|
NM_025114.4(CEP290):c.1397_1400del (p.Lys466fs)
|
|
|
NM_025114.4(CEP290):c.1439_1450delinsG (p.Glu480fs)
|
|
|
NM_025114.4(CEP290):c.1453dup (p.Glu485fs)
|
|
|
NM_025114.4(CEP290):c.1471_1475del (p.Leu491fs)
|
|
|
NM_025114.4(CEP290):c.1495G>T (p.Glu499Ter)
|
|
|
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.1516del (p.Arg506fs)
|
|
|
NM_025114.4(CEP290):c.1616del (p.Leu538_Leu539insTer)
|
|
|
NM_025114.4(CEP290):c.1657A>T (p.Lys553Ter)
|
|
|
NM_025114.4(CEP290):c.1668del (p.Arg557fs)
|
rs2039204524
|
|
NM_025114.4(CEP290):c.1824+1G>A
|
|
|
NM_025114.4(CEP290):c.1835_1838del (p.Leu612fs)
|
|
|
NM_025114.4(CEP290):c.1909+1G>T
|
|
|
NM_025114.4(CEP290):c.1914del (p.Glu639fs)
|
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter)
|
rs1440259390
|
|
NM_025114.4(CEP290):c.2176del (p.Ala726fs)
|
|
|
NM_025114.4(CEP290):c.2217+2T>C
|
rs2038702746
|
|
NM_025114.4(CEP290):c.2217+2T>G
|
|
|
NM_025114.4(CEP290):c.2218-2A>G
|
|
|
NM_025114.4(CEP290):c.2304del (p.Gly768_Ile769insTer)
|
|
|
NM_025114.4(CEP290):c.2355dup (p.His786fs)
|
|
|
NM_025114.4(CEP290):c.2389_2390del (p.Lys797fs)
|
|
|
NM_025114.4(CEP290):c.2404_2433delinsAC (p.Glu802fs)
|
|
|
NM_025114.4(CEP290):c.2433del (p.Lys811fs)
|
rs2137663442
|
|
NM_025114.4(CEP290):c.2478C>G (p.Tyr826Ter)
|
|
|
NM_025114.4(CEP290):c.2510del (p.Ser837fs)
|
|
|
NM_025114.4(CEP290):c.2586+1G>A
|
|
|
NM_025114.4(CEP290):c.2587-1G>T
|
|
|
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)
|
rs1221464366
|
|
NM_025114.4(CEP290):c.2632del (p.Ile878fs)
|
rs1404507934
|
|
NM_025114.4(CEP290):c.2632dup (p.Ile878fs)
|
|
|
NM_025114.4(CEP290):c.2794dup (p.Ile932fs)
|
|
|
NM_025114.4(CEP290):c.292_293insA (p.Leu98fs)
|
rs2040497202
|
|
NM_025114.4(CEP290):c.2933del (p.Asp978fs)
|
|
|
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)
|
rs1057518822
|
|
NM_025114.4(CEP290):c.2991+1G>A
|
|
|
NM_025114.4(CEP290):c.2992-1G>A
|
|
|
NM_025114.4(CEP290):c.3104-2A>G
|
rs773386777
|
|
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter)
|
rs1555212271
|
|
NM_025114.4(CEP290):c.3187G>T (p.Glu1063Ter)
|
|
|
NM_025114.4(CEP290):c.3200T>G (p.Leu1067Ter)
|
|
|
NM_025114.4(CEP290):c.3234_3235del (p.Lys1078fs)
|
|
|
NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter)
|
rs2036977924
|
|
NM_025114.4(CEP290):c.3596del (p.Leu1199fs)
|
|
|
NM_025114.4(CEP290):c.3606_3615del (p.Lys1202fs)
|
|
|
NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)
|
|
|
NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)
|
|
|
NM_025114.4(CEP290):c.3745_3748del (p.Leu1249fs)
|
rs2137276301
|
|
NM_025114.4(CEP290):c.3750_3753delinsA (p.Tyr1250_Tyr1251delinsTer)
|
|
|
NM_025114.4(CEP290):c.3783del (p.Lys1261fs)
|
rs2036833257
|
|
NM_025114.4(CEP290):c.3799del (p.Ile1267fs)
|
|
|
NM_025114.4(CEP290):c.3825_3829del (p.Gly1276fs)
|
|
|
NM_025114.4(CEP290):c.3897_3901del (p.Lys1299fs)
|
|
|
NM_025114.4(CEP290):c.3917del (p.Asn1306fs)
|
|
|
NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter)
|
rs2036816455
|
|
NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)
|
|
|
NM_025114.4(CEP290):c.4033del (p.Ile1345fs)
|
|
|
NM_025114.4(CEP290):c.4081_4084del (p.Leu1361fs)
|
|
|
NM_025114.4(CEP290):c.4348_4356delinsTC (p.Pro1450fs)
|
|
|
NM_025114.4(CEP290):c.441+1G>C
|
|
|
NM_025114.4(CEP290):c.4704+1G>T
|
rs1565835538
|
|
NM_025114.4(CEP290):c.476del (p.Asn159fs)
|
|
|
NM_025114.4(CEP290):c.4771del (p.Gln1591fs)
|
|
|
NM_025114.4(CEP290):c.4855dup (p.His1619fs)
|
|
|
NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)
|
|
|
NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)
|
|
|
NM_025114.4(CEP290):c.4985_4986del (p.Val1662fs)
|
rs2036306894
|
|
NM_025114.4(CEP290):c.5012+1G>A
|
|
|
NM_025114.4(CEP290):c.5012+2T>G
|
|
|
NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)
|
|
|
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs)
|
rs766259648
|
|
NM_025114.4(CEP290):c.5136_5139del (p.Glu1713fs)
|
rs995093343
|
|
NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter)
|
|
|
NM_025114.4(CEP290):c.5192dup (p.Ser1732fs)
|
|
|
NM_025114.4(CEP290):c.5223_5224del (p.Lys1742fs)
|
|
|
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs)
|
rs775969711
|
|
NM_025114.4(CEP290):c.5242del (p.Leu1748fs)
|
|
|
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)
|
rs748471942
|
|
NM_025114.4(CEP290):c.532C>T (p.Gln178Ter)
|
rs2039993548
|
|
NM_025114.4(CEP290):c.5418_5422del (p.Lys1806_Thr1807insTer)
|
|
|
NM_025114.4(CEP290):c.5728_5731del (p.Ile1910fs)
|
rs754728136
|
|
NM_025114.4(CEP290):c.574_577del (p.Glu192fs)
|
|
|
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)
|
rs561598805
|
|
NM_025114.4(CEP290):c.5791_5794del (p.Glu1931fs)
|
rs2136964385
|
|
NM_025114.4(CEP290):c.5794A>T (p.Lys1932Ter)
|
|
|
NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs)
|
|
|
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)
|
rs886042360
|
|
NM_025114.4(CEP290):c.5822del (p.Lys1941fs)
|
|
|
NM_025114.4(CEP290):c.584T>G (p.Leu195Ter)
|
|
|
NM_025114.4(CEP290):c.584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.5855+1G>A
|
|
|
NM_025114.4(CEP290):c.5855+2T>G
|
|
|
NM_025114.4(CEP290):c.5953del (p.Glu1985fs)
|
|
|
NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter)
|
rs2035358840
|
|
NM_025114.4(CEP290):c.5972del (p.Lys1991fs)
|
rs1468269366
|
|
NM_025114.4(CEP290):c.6011+2T>G
|
|
|
NM_025114.4(CEP290):c.6138_6139delinsC (p.Ser2047fs)
|
|
|
NM_025114.4(CEP290):c.6152C>G (p.Ser2051Ter)
|
|
|
NM_025114.4(CEP290):c.6226A>T (p.Lys2076Ter)
|
|
|
NM_025114.4(CEP290):c.6249dup (p.Lys2084Ter)
|
|
|
NM_025114.4(CEP290):c.626del (p.Ser209fs)
|
|
|
NM_025114.4(CEP290):c.6270+1G>T
|
|
|
NM_025114.4(CEP290):c.6270+2T>C
|
|
|
NM_025114.4(CEP290):c.6276_6280dup (p.Arg2094fs)
|
|
|
NM_025114.4(CEP290):c.6325G>T (p.Glu2109Ter)
|
|
|
NM_025114.4(CEP290):c.635dup (p.Asn212fs)
|
rs769091629
|
|
NM_025114.4(CEP290):c.6364A>T (p.Arg2122Ter)
|
rs1555197766
|
|
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
|
rs1364945778
|
|
NM_025114.4(CEP290):c.6487dup (p.Met2163fs)
|
rs2136748724
|
|
NM_025114.4(CEP290):c.6490del (p.Ala2164fs)
|
|
|
NM_025114.4(CEP290):c.6516del (p.Lys2172fs)
|
rs1057519165
|
|
NM_025114.4(CEP290):c.6624del (p.Arg2208fs)
|
rs2136725569
|
|
NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter)
|
rs2034232539
|
|
NM_025114.4(CEP290):c.6818_6818+1dup
|
rs1060499781
|
|
NM_025114.4(CEP290):c.6831del (p.Lys2278fs)
|
|
|
NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)
|
|
|
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter)
|
rs2033937635
|
|
NM_025114.4(CEP290):c.6917_6920del (p.Arg2306fs)
|
rs1177923180
|
|
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs)
|
rs1177923180
|
|
NM_025114.4(CEP290):c.6927del (p.Val2310fs)
|
|
|
NM_025114.4(CEP290):c.6928dup (p.Val2310fs)
|
|
|
NM_025114.4(CEP290):c.6933del (p.Asn2311fs)
|
|
|
NM_025114.4(CEP290):c.7024C>T (p.Gln2342Ter)
|
|
|
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)
|
|
|
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)
|
rs781310385
|
|
NM_025114.4(CEP290):c.7157_7158del (p.Lys2386fs)
|
|
|
NM_025114.4(CEP290):c.7162_7163del (p.Leu2388fs)
|
|
|
NM_025114.4(CEP290):c.7175_7176del (p.Leu2392fs)
|
|
|
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7209+1G>A
|
|
|
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs)
|
rs763762899
|
|
NM_025114.4(CEP290):c.7233del (p.Glu2412fs)
|
rs2033254449
|
|
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)
|
rs2033254449
|
|
NM_025114.4(CEP290):c.7248del (p.Phe2416fs)
|
|
|
NM_025114.4(CEP290):c.7256C>G (p.Ser2419Ter)
|
|
|
NM_025114.4(CEP290):c.7256_7259del (p.Ser2419fs)
|
|
|
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)
|
rs773642187
|
|
NM_025114.4(CEP290):c.7288_7289dup (p.Asn2430fs)
|
rs1482471100
|
|
NM_025114.4(CEP290):c.7311del (p.Asn2438fs)
|
|
|
NM_025114.4(CEP290):c.7327_7330delinsTATT (p.Glu2443_Lys2444delinsTyrTer)
|
|
|
NM_025114.4(CEP290):c.7341del (p.Lys2447fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.833del (p.Asn278fs)
|
|
|
NM_025114.4(CEP290):c.853-2A>G
|
|
|
NM_025114.4(CEP290):c.942+1G>C
|
rs2039897317
|
|
NM_031885.5(BBS2):c.1027C>T (p.Gln343Ter)
|
|
|
NM_031885.5(BBS2):c.1066G>T (p.Glu356Ter)
|
rs1192804794
|
|
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs)
|
rs1964269329
|
|
NM_031885.5(BBS2):c.118-2A>C
|
|
|
NM_031885.5(BBS2):c.1225+2T>C
|
|
|
NM_031885.5(BBS2):c.1225+2dup
|
|
|
NM_031885.5(BBS2):c.1290dup (p.His431fs)
|
rs777420525
|
|
NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs)
|
|
|
NM_031885.5(BBS2):c.1355del (p.Pro452fs)
|
|
|
NM_031885.5(BBS2):c.1397+2T>C
|
|
|
NM_031885.5(BBS2):c.1453_1456dup (p.Leu486fs)
|
|
|
NM_031885.5(BBS2):c.157del (p.Ser53fs)
|
|
|
NM_031885.5(BBS2):c.1594C>T (p.Gln532Ter)
|
|
|
NM_031885.5(BBS2):c.1725dup (p.Ala576fs)
|
|
|
NM_031885.5(BBS2):c.1762_1765del (p.Val588fs)
|
rs1964155109
|
|
NM_031885.5(BBS2):c.1794dup (p.Lys599Ter)
|
|
|
NM_031885.5(BBS2):c.1843dup (p.Ala615fs)
|
rs1199538371
|
|
NM_031885.5(BBS2):c.184dup (p.Leu62fs)
|
|
|
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter)
|
rs1963758780
|
|
NM_031885.5(BBS2):c.1944T>A (p.Tyr648Ter)
|
|
|
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter)
|
rs1166717771
|
|
NM_031885.5(BBS2):c.2038C>T (p.Gln680Ter)
|
rs1555520220
|
|
NM_031885.5(BBS2):c.2059+1del
|
|
|
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)
|
rs121908174
|
|
NM_031885.5(BBS2):c.255del (p.Glu86fs)
|
rs2144193104
|
|
NM_031885.5(BBS2):c.278T>A (p.Leu93Ter)
|
|
|
NM_031885.5(BBS2):c.284_285del (p.Gly95fs)
|
|
|
NM_031885.5(BBS2):c.289C>T (p.Gln97Ter)
|
rs1964676925
|
|
NM_031885.5(BBS2):c.326C>A (p.Ser109Ter)
|
rs181736797
|
|
NM_031885.5(BBS2):c.346-1G>C
|
|
|
NM_031885.5(BBS2):c.361_367delinsTTATGCAG (p.Asn121fs)
|
|
|
NM_031885.5(BBS2):c.406dup (p.Ala136fs)
|
|
|
NM_031885.5(BBS2):c.440del (p.Phe147fs)
|
rs1433422530
|
|
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter)
|
rs1964558577
|
|
NM_031885.5(BBS2):c.534+2T>C
|
|
|
NM_031885.5(BBS2):c.535-1G>A
|
|
|
NM_031885.5(BBS2):c.559dup (p.Asp187fs)
|
|
|
NM_031885.5(BBS2):c.653G>A (p.Gly218Asp)
|
|
|
NM_031885.5(BBS2):c.718-2A>C
|
rs1964413705
|
|
NM_031885.5(BBS2):c.940+1G>A
|
|
|
NM_031885.5(BBS2):c.941-1G>A
|
|
|
NM_033028.5(BBS4):c.101del (p.Lys34fs)
|
|
|
NM_033028.5(BBS4):c.1037-2A>G
|
|
|
NM_033028.5(BBS4):c.103C>T (p.Gln35Ter)
|
|
|
NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)
|
|
|
NM_033028.5(BBS4):c.1106+1G>A
|
|
|
NM_033028.5(BBS4):c.1106+2T>C
|
|
|
NM_033028.5(BBS4):c.1106del (p.Lys369fs)
|
|
|
NM_033028.5(BBS4):c.1118T>A (p.Leu373Ter)
|
|
|
NM_033028.5(BBS4):c.1185T>A (p.Tyr395Ter)
|
|
|
NM_033028.5(BBS4):c.1202_1203dup (p.Val402fs)
|
|
|
NM_033028.5(BBS4):c.1248+1G>A
|
|
|
NM_033028.5(BBS4):c.1248+2dup
|
|
|
NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter)
|
|
|
NM_033028.5(BBS4):c.1294dup (p.Glu432fs)
|
|
|
NM_033028.5(BBS4):c.1308G>A (p.Trp436Ter)
|
|
|
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs)
|
rs1281334523
|
|
NM_033028.5(BBS4):c.1389dup (p.Ser464fs)
|
|
|
NM_033028.5(BBS4):c.1398del (p.Ala467fs)
|
|
|
NM_033028.5(BBS4):c.1450+2T>C
|
|
|
NM_033028.5(BBS4):c.150del (p.Cys51fs)
|
|
|
NM_033028.5(BBS4):c.210_213del (p.Ile70fs)
|
rs775928735
|
|
NM_033028.5(BBS4):c.220+1G>A
|
|
|
NM_033028.5(BBS4):c.24+1G>A
|
rs759520211
|
|
NM_033028.5(BBS4):c.276_277del (p.Ala94fs)
|
|
|
NM_033028.5(BBS4):c.295C>T (p.Gln99Ter)
|
|
|
NM_033028.5(BBS4):c.333-2A>C
|
|
|
NM_033028.5(BBS4):c.341del (p.Leu114fs)
|
rs750258633
|
|
NM_033028.5(BBS4):c.405G>A (p.Trp135Ter)
|
|
|
NM_033028.5(BBS4):c.406G>T (p.Glu136Ter)
|
|
|
NM_033028.5(BBS4):c.511dup (p.Tyr171fs)
|
|
|
NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)
|
|
|
NM_033028.5(BBS4):c.584_585dup (p.Glu196fs)
|
|
|
NM_033028.5(BBS4):c.608_609del (p.Glu203fs)
|
|
|
NM_033028.5(BBS4):c.616dup (p.Thr206fs)
|
|
|
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter)
|
rs1060503692
|
|
NM_033028.5(BBS4):c.642+2T>G
|
|
|
NM_033028.5(BBS4):c.819del (p.Leu272_Trp273insTer)
|
|
|
NM_033028.5(BBS4):c.864+1G>A
|
|
|
NM_033028.5(BBS4):c.864+1G>C
|
rs2151047618
|
|
NM_033028.5(BBS4):c.87del (p.Pro30fs)
|
|
|
NM_033028.5(BBS4):c.95T>A (p.Leu32Ter)
|
|
|
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter)
|
rs770891152
|
|
NM_152618.3(BBS12):c.1007del (p.Thr336fs)
|
|
|
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs)
|
rs1553941369
|
|
NM_152618.3(BBS12):c.1073_1074del (p.Leu358fs)
|
|
|
NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs)
|
rs1800908907
|
|
NM_152618.3(BBS12):c.1095_1096del (p.Asn366fs)
|
rs2150736865
|
|
NM_152618.3(BBS12):c.1140_1141del (p.Val381fs)
|
rs1553941391
|
|
NM_152618.3(BBS12):c.1145T>A (p.Leu382Ter)
|
|
|
NM_152618.3(BBS12):c.1151del (p.Ser384fs)
|
rs1553941404
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NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter)
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rs747159816
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NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs)
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rs766741204
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NM_152618.3(BBS12):c.1289dup (p.Arg431fs)
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NM_152618.3(BBS12):c.1339G>T (p.Glu447Ter)
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NM_152618.3(BBS12):c.1482_1485del (p.Gly496fs)
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NM_152618.3(BBS12):c.1531C>T (p.Gln511Ter)
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NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
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rs752762669
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NM_152618.3(BBS12):c.1537C>T (p.Gln513Ter)
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NM_152618.3(BBS12):c.1560G>A (p.Trp520Ter)
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NM_152618.3(BBS12):c.1654_1655dup (p.Leu553fs)
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NM_152618.3(BBS12):c.1672_1673del (p.Leu558fs)
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NM_152618.3(BBS12):c.1799C>G (p.Ser600Ter)
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NM_152618.3(BBS12):c.1886_1887del (p.Ser629fs)
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NM_152618.3(BBS12):c.1910T>A (p.Leu637Ter)
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NM_152618.3(BBS12):c.1993GTT[1] (p.Val666del)
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NM_152618.3(BBS12):c.2053C>T (p.Gln685Ter)
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rs746020725
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NM_152618.3(BBS12):c.424dup (p.Asp142fs)
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rs1553941258
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NM_152618.3(BBS12):c.494C>G (p.Ser165Ter)
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NM_152618.3(BBS12):c.49dup (p.Gln17fs)
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rs756061536
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NM_152618.3(BBS12):c.568dup (p.Ser190fs)
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rs1553941279
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NM_152618.3(BBS12):c.682C>T (p.Gln228Ter)
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rs769588983
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NM_152618.3(BBS12):c.694dup (p.Ile232fs)
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rs2150736431
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NM_152618.3(BBS12):c.719_720del (p.Thr240fs)
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NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)
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rs1553941304
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NM_152618.3(BBS12):c.780_781del (p.His260fs)
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rs865920726
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NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter)
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rs974173261
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NM_152618.3(BBS12):c.869_873del (p.Val290fs)
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rs1283655166
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NM_152618.3(BBS12):c.911_912del (p.Cys304fs)
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rs2150736648
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NM_152618.3(BBS12):c.948_952del (p.Phe316fs)
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NM_170784.3(MKKS):c.1353del (p.Phe450_Cys451insTer)
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NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)
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NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)
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NM_170784.3(MKKS):c.1486C>T (p.Gln496Ter)
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NM_170784.3(MKKS):c.175C>T (p.Gln59Ter)
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rs1334961999
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NM_170784.3(MKKS):c.182C>G (p.Ser61Ter)
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NM_170784.3(MKKS):c.187_188dup (p.Leu64fs)
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NM_170784.3(MKKS):c.221T>G (p.Leu74Ter)
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NM_170784.3(MKKS):c.383_391delinsG (p.Ile128fs)
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NM_170784.3(MKKS):c.40_41del (p.Lys13_Ser14insTer)
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NM_170784.3(MKKS):c.432del (p.Phe144fs)
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NM_170784.3(MKKS):c.432dup (p.Ser145Ter)
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NM_170784.3(MKKS):c.515_516del (p.Glu172fs)
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rs2064904675
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NM_170784.3(MKKS):c.611del (p.Pro203_Leu204insTer)
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NM_170784.3(MKKS):c.619C>T (p.Gln207Ter)
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NM_170784.3(MKKS):c.61A>T (p.Arg21Ter)
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NM_170784.3(MKKS):c.668C>A (p.Ser223Ter)
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NM_170784.3(MKKS):c.732_733del (p.Phe244fs)
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NM_170784.3(MKKS):c.845dup (p.Leu283fs)
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rs1555801973
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NM_170784.3(MKKS):c.871G>T (p.Val291Phe)
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NM_170784.3(MKKS):c.886del (p.Val296fs)
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NM_170784.3(MKKS):c.940_941del (p.Asp314fs)
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rs2064897670
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NM_170784.3(MKKS):c.942_945del (p.Asp314fs)
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NM_170784.3(MKKS):c.950_960del (p.Gly317fs)
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NM_170784.3(MKKS):c.966del (p.Glu322fs)
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NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer)
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rs773139166
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NM_176824.3(BBS7):c.1072C>T (p.Gln358Ter)
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NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs)
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rs577434138
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NM_176824.3(BBS7):c.115_116del (p.Asp39fs)
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NM_176824.3(BBS7):c.1190_1194del (p.Ile397fs)
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NM_176824.3(BBS7):c.1201C>T (p.Gln401Ter)
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NM_176824.3(BBS7):c.1371+1G>A
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rs1578537379
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NM_176824.3(BBS7):c.1489del (p.Thr497fs)
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NM_176824.3(BBS7):c.149dup (p.Lys51fs)
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NM_176824.3(BBS7):c.1512-1G>A
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rs2149054421
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NM_176824.3(BBS7):c.1551del (p.Phe517fs)
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NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del)
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rs587777836
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NM_176824.3(BBS7):c.1677-2A>G
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NM_176824.3(BBS7):c.1685del (p.Glu562fs)
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NM_176824.3(BBS7):c.1804_1807del (p.Val602fs)
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NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)
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NM_176824.3(BBS7):c.1891-2A>C
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rs1057519027
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NM_176824.3(BBS7):c.1946_1947insCTAGATAT (p.Ile649_Leu650insTer)
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NM_176824.3(BBS7):c.293_294del (p.Lys98fs)
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NM_176824.3(BBS7):c.328del (p.Ser110fs)
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NM_176824.3(BBS7):c.341+2T>C
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NM_176824.3(BBS7):c.389_390del (p.Asn130fs)
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rs863224530
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NM_176824.3(BBS7):c.420T>G (p.Tyr140Ter)
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NM_176824.3(BBS7):c.517dup (p.Arg173fs)
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NM_176824.3(BBS7):c.613_614del (p.Glu205fs)
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NM_176824.3(BBS7):c.649dup (p.Ala217fs)
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rs886044668
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NM_176824.3(BBS7):c.718+1G>C
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NM_176824.3(BBS7):c.719-2A>G
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NM_176824.3(BBS7):c.725dup (p.Leu242fs)
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NM_176824.3(BBS7):c.72del (p.Pro25fs)
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NM_176824.3(BBS7):c.790G>T (p.Gly264Ter)
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NM_176824.3(BBS7):c.849+1G>A
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NM_176824.3(BBS7):c.932C>G (p.Ser311Ter)
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NM_176824.3(BBS7):c.97C>T (p.Gln33Ter)
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NM_198428.3(BBS9):c.1022T>A (p.Leu341Ter)
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NM_198428.3(BBS9):c.118del (p.Lys39_Ile40insTer)
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NM_198428.3(BBS9):c.1193C>G (p.Ser398Ter)
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NM_198428.3(BBS9):c.1275+1G>A
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NM_198428.3(BBS9):c.1432+2T>G
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NM_198428.3(BBS9):c.1694-2A>G
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NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter)
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rs746797123
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NM_198428.3(BBS9):c.1760_1764del (p.Arg587fs)
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|
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NM_198428.3(BBS9):c.1812del (p.Glu604fs)
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rs1229015450
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NM_198428.3(BBS9):c.1869T>G (p.Tyr623Ter)
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NM_198428.3(BBS9):c.1927C>T (p.Gln643Ter)
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NM_198428.3(BBS9):c.1960G>T (p.Glu654Ter)
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NM_198428.3(BBS9):c.1963-1G>T
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NM_198428.3(BBS9):c.196G>T (p.Glu66Ter)
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NM_198428.3(BBS9):c.2116-2A>T
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NM_198428.3(BBS9):c.2299-2A>C
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NM_198428.3(BBS9):c.2412_2415dup (p.Ser806fs)
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NM_198428.3(BBS9):c.360del (p.Gln120fs)
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NM_198428.3(BBS9):c.434del (p.Gly145fs)
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NM_198428.3(BBS9):c.496C>T (p.Gln166Ter)
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NM_198428.3(BBS9):c.793G>T (p.Glu265Ter)
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NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)
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NM_198428.3(BBS9):c.998_999insTT (p.Val333_Arg334insTer)
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