|
NM_183065.4(TMEM107):c.*759C>T
|
rs201787275
|
0.00162
|
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
|
NM_000260.4(MYO7A):c.1A>G (p.Met1Val)
|
rs797044518
|
0.00004
|
|
NM_006793.5(PRDX3):c.43C>T (p.Arg15Ter)
|
rs371560438
|
0.00004
|
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
0.00004
|
|
NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His)
|
rs63751001
|
0.00003
|
|
NM_000360.4(TH):c.787G>C (p.Gly263Arg)
|
rs755536257
|
0.00002
|
|
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu)
|
rs761051181
|
0.00002
|
|
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)
|
rs61752909
|
0.00001
|
|
NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs)
|
rs397517376
|
0.00001
|
|
NM_001267550.2(TTN):c.53743C>T (p.Arg17915Ter)
|
rs753333359
|
0.00001
|
|
NM_001267550.2(TTN):c.95562G>C (p.Trp31854Cys)
|
rs752756889
|
0.00001
|
|
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)
|
rs137853003
|
0.00001
|
|
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr)
|
rs773379832
|
0.00001
|
|
NM_022124.6(CDH23):c.7362+5G>A
|
rs727502931
|
0.00001
|
|
NM_198428.3(BBS9):c.263+1G>A
|
rs137962929
|
0.00001
|
|
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)
|
rs767078782
|
0.00001
|
|
GRCh38/hg38 17p13.1(chr17:8171228-8185326)x1
|
|
|
|
NM_000243.3(MEFV):c.[2080A>G];[2177T>C]
|
|
|
|
NM_000260.4(MYO7A):c.3109-2A>G
|
|
|
|
NM_000260.4(MYO7A):c.471-2A>C
|
|
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
|
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)
|
rs192907397
|
|
|
NM_000441.2(SLC26A4):c.584T>C (p.Leu195Pro)
|
|
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
|
NM_001128228.3(TPRN):c.301G>T (p.Glu101Ter)
|
|
|
|
NM_001171.6(ABCC6):c.2738_2739del (p.Pro913fs)
|
|
|
|
NM_001371333.1(DIABLO):c.219G>C (p.Leu73Phe)
|
rs1566025862
|
|
|
NM_001378454.1(ALMS1):c.7313C>A (p.Ser2438Ter)
|
rs1558651680
|
|
|
NM_001510.4(GRID2):c.1100G>A (p.Arg367His)
|
|
|
|
NM_003322.6(TULP1):c.790C>T (p.Gln264Ter)
|
rs2150926986
|
|
|
NM_004999.4(MYO6):c.560del (p.Pro187fs)
|
rs2150249865
|
|
|
NM_005861.4(STUB1):c.346A>G (p.Asn116Asp)
|
rs1456416134
|
|
|
NM_005982.4(SIX1):c.316G>T (p.Val106Leu)
|
rs2140241235
|
|
|
NM_014363.6(SACS):c.11984_11986dup (p.Leu3995_Cys3996insLeu)
|
|
|
|
NM_014363.6(SACS):c.2387del (p.Leu796fs)
|
|
|
|
NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg)
|
rs1192682879
|
|
|
NM_015404.4(WHRN):c.35C>A (p.Ser12Ter)
|
|
|
|
NM_018136.5(ASPM):c.8141del (p.Ala2714fs)
|
rs2125093720
|
|
|
NM_022124.6(CDH23):c.3220+1G>A
|
rs1487026359
|
|
|
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del)
|
rs796051860
|
|
|
NM_022124.6(CDH23):c.5369-1G>A
|
rs1564791773
|
|
|
NM_022168.4(IFIH1):c.454-1G>A
|
|
|
|
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter)
|
rs1156913215
|
|
|
NM_024685.4(BBS10):c.805dup (p.Ser269fs)
|
|
|
|
NM_025132.4(WDR19):c.[291-21A>G];[542C>G]
|
|
|
|
NM_025216.3(WNT10A):c.[487C>T];[682T>A]
|
|
|
|
NM_032119.4(ADGRV1):c.5665-231C>T
|
|
|
|
NM_032119.4(ADGRV1):c.6077dup (p.Tyr2026Ter)
|
|
|
|
NM_152384.3(BBS5):c.420dup (p.Lys141Ter)
|
|
|
|
NM_173477.5(USH1G):c.1382+2_1382+3del
|
|
|
|
NM_174878.3(CLRN1):c.461T>G (p.Leu154Trp)
|
rs775098953
|
|
|
NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter)
|
rs772587027
|
|
|
NM_182961.4(SYNE1):c.99del (p.Phe33fs)
|
|
|
|
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)
|
rs606231137
|
|
|
NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter)
|
rs768062696
|
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
|
NM_206933.4(USH2A):c.3558del (p.Cys1186fs)
|
rs397518014
|
|
|
NM_213599.3(ANO5):c.[1520del];[155A>G]
|
|
|