NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)
|
rs2234917
|
0.00481
|
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr)
|
rs140811086
|
0.00280
|
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)
|
rs139398993
|
0.00077
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
NM_153816.6(SNX14):c.331C>T (p.Arg111Ter)
|
rs760752847
|
0.00002
|
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)
|
rs1184563885
|
0.00001
|
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)
|
rs267606641
|
0.00001
|
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter)
|
rs755133567
|
0.00001
|
NM_152703.5(SAMD9L):c.1617_1618del (p.Gly541fs)
|
rs1584279870
|
0.00001
|
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer)
|
rs774694340
|
0.00001
|
GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0
|
|
|
GRCh38/hg38 4q22.1(chr4:92303869-92304842)x0
|
|
|
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter)
|
rs972221242
|
|
NM_001044385.3(TMEM237):c.80-2A>G
|
rs1445957469
|
|
NM_001114748.2(TMEM240):c.47C>A (p.Ser16Ter)
|
|
|
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)
|
rs1786504555
|
|
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val)
|
rs372012542
|
|
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)
|
rs794727174
|
|
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro)
|
rs1583187059
|
|
NM_001271696.3(ABCB7):c.1936-3C>G
|
rs1602330362
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del)
|
rs764874938
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp)
|
rs767260373
|
|
NM_001961.4(EEF2):c.442del (p.Ala148fs)
|
|
|
NM_003383.5(VLDLR):c.1374del (p.Glu460fs)
|
rs1586653366
|
|
NM_003383.5(VLDLR):c.1962+2T>C
|
rs1563764078
|
|
NM_005898.5(CAPRIN1):c.1535C>T (p.Pro512Leu)
|
|
|
NM_006946.4(SPTBN2):c.2330dup (p.His777fs)
|
|
|
NM_014363.6(SACS):c.11092C>T (p.Gln3698Ter)
|
rs1883571494
|
|
NM_014363.6(SACS):c.13350G>A (p.Trp4450Ter)
|
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)
|
rs1567800920
|
|
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
|
|
|
NM_015289.5(VPS39):c.442-2A>G
|
|
|
NM_015378.4(VPS13D):c.10142-2A>G
|
|
|
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter)
|
rs1593576872
|
|
NM_017777.4(MKS1):c.959-5C>A
|
rs765242131
|
|
NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs)
|
rs1589611043
|
|
NM_020247.5(COQ8A):c.1838_1851del (p.Met613fs)
|
|
|
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)
|
rs1465414886
|
|
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)
|
rs1592833648
|
|
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)
|
rs561598805
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|
NM_032856.5(WDR73):c.766dup (p.Arg256fs)
|
rs727502864
|
|
NM_033064.5(ATCAY):c.552C>G (p.Tyr184Ter)
|
|
|
NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer)
|
rs1064793681
|
|
NM_153816.6(SNX14):c.303T>A (p.Cys101Ter)
|
rs1562374476
|
|