NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu)
|
rs104893968
|
0.00130
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)
|
rs62637014
|
0.00038
|
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)
|
rs61750168
|
0.00019
|
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg)
|
rs121908449
|
0.00019
|
NM_001083961.2(WDR62):c.824C>T (p.Ser275Leu)
|
rs202014178
|
0.00014
|
NM_001367624.2(ZNF469):c.10354G>A (p.Gly3452Ser)
|
rs548646578
|
0.00012
|
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)
|
rs62638214
|
0.00011
|
NM_012208.4(HARS2):c.448C>T (p.Arg150Cys)
|
rs140540222
|
0.00009
|
NM_003052.5(SLC34A1):c.937-2A>C
|
rs754825865
|
0.00008
|
NM_012208.4(HARS2):c.172A>G (p.Lys58Glu)
|
rs201392711
|
0.00007
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
0.00005
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)
|
rs754768875
|
0.00003
|
NM_033100.4(CDHR1):c.524dup (p.Asn176fs)
|
rs781781440
|
0.00002
|
NM_001040616.3(LINS1):c.1432G>T (p.Glu478Ter)
|
rs1163046936
|
0.00001
|
NM_003383.5(VLDLR):c.1666C>T (p.Arg556Ter)
|
rs141396971
|
0.00001
|
NM_004560.4(ROR2):c.2239C>T (p.Arg747Ter)
|
rs374646337
|
0.00001
|
NM_012208.4(HARS2):c.259C>T (p.Arg87Cys)
|
rs754069818
|
0.00001
|
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter)
|
rs745597204
|
0.00001
|
NM_025114.4(CEP290):c.5587-1G>C
|
rs968692633
|
0.00001
|
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)
|
rs121908581
|
0.00001
|
NM_170784.3(MKKS):c.837del (p.Gly280fs)
|
rs776004321
|
0.00001
|
NM_170784.3(MKKS):c.890T>C (p.Ile297Thr)
|
rs147704542
|
0.00001
|
NM_194292.3(SASS6):c.134T>A (p.Val45Asp)
|
rs746525578
|
0.00001
|
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs)
|
rs1598146589
|
|
NM_000180.4(GUCY2D):c.2135A>T (p.Glu712Val)
|
rs2151802780
|
|
NM_000180.4(GUCY2D):c.2234del (p.Pro745fs)
|
rs1598149659
|
|
NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del
|
|
|
NM_000883.4(IMPDH1):c.978G>C (p.Gln326His)
|
rs1584727989
|
|
NM_001048166.1(STIL):c.1078C>T (p.Gln360Ter)
|
rs2149046665
|
|
NM_001048166.1(STIL):c.443C>T (p.Ser148Leu)
|
rs2149198646
|
|
NM_001083961.2(WDR62):c.1138G>A (p.Asp380Asn)
|
rs755050401
|
|
NM_001128178.3(NPHP1):c.865C>T (p.Gln289Ter)
|
rs2104548702
|
|
NM_001194998.2(CEP152):c.467dup (p.Gln157fs)
|
rs1208144689
|
|
NM_003896.4(ST3GAL5):c.1060G>A (p.Asp354Asn)
|
rs749966729
|
|
NM_004560.4(ROR2):c.1184-1G>T
|
rs2118645585
|
|
NM_005199.5(CHRNG):c.613G>T (p.Glu205Ter)
|
rs2106221597
|
|
NM_005199.5(CHRNG):c.814del (p.Gln272fs)
|
rs2106221927
|
|
NM_005536.4(IMPA1):c.817C>T (p.Arg273Ter)
|
rs1308325707
|
|
NM_005861.4(STUB1):c.612+4_612+46del
|
rs2151505435
|
|
NM_012208.4(HARS2):c.137T>A (p.Leu46Gln)
|
rs1562047621
|
|
NM_012208.4(HARS2):c.980G>A (p.Arg327Gln)
|
rs778499309
|
|
NM_014336.4:c.(?_-1)_(276+1_277-1)del
|
|
|
NM_014336.5(AIPL1):c.465G>T (p.Gln155His)
|
rs758001091
|
|
NM_014336.5(AIPL1):c.730GAG[1] (p.Glu245del)
|
rs1200311161
|
|
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro)
|
rs1284009768
|
|
NM_014363.6(SACS):c.7576_7579del (p.Glu2526fs)
|
rs2137599071
|
|
NM_015629.4(PRPF31):c.1336T>C (p.Ser446Pro)
|
rs1600361737
|
|
NM_016219.5(MAN1B1):c.219+1G>A
|
rs2130983856
|
|
NM_017825.3(ADPRS):c.544C>T (p.His182Tyr)
|
rs2124055158
|
|
NM_017825.3(ADPRS):c.564C>A (p.Tyr188Ter)
|
rs2124055267
|
|
NM_018136.5(ASPM):c.4995T>A (p.Tyr1665Ter)
|
rs2125096196
|
|
NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter)
|
rs137853124
|
|
NM_020964.3(EPG5):c.1871T>C (p.Leu624Pro)
|
rs2145906621
|
|
NM_020964.3(EPG5):c.4931_4936del (p.Val1644_His1645del)
|
rs2145491212
|
|
NM_024649.5(BBS1):c.1110+3G>C
|
rs762276925
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_025074.7(FRAS1):c.3569G>T (p.Gly1190Val)
|
rs772679809
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter)
|
rs1592726020
|
|
NM_033028.5(BBS4):c.1106+2T>A
|
rs886041464
|
|
NM_144672.4(OTOA):c.1792C>G (p.Leu598Val)
|
rs765408935
|
|
NM_153240.5(NPHP3):c.361A>C (p.Thr121Pro)
|
rs747810325
|
|
NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly)
|
rs1571645627
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
|
|
|