NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)
|
rs146251364
|
0.00063
|
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser)
|
rs66864704
|
0.00036
|
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)
|
rs374963432
|
0.00018
|
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp)
|
rs369359789
|
0.00016
|
NM_000211.5(ITGB2):c.897+1G>A
|
rs201752283
|
0.00004
|
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg)
|
rs121913551
|
0.00003
|
NM_012205.3(HAAO):c.21del (p.Arg8fs)
|
rs1227604776
|
0.00002
|
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser)
|
rs1260264247
|
0.00002
|
NM_153717.3(EVC):c.2782+1G>T
|
rs1007534611
|
0.00002
|
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)
|
rs1032781250
|
0.00001
|
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met)
|
rs1201878175
|
0.00001
|
NM_153717.3(EVC):c.1777-1G>A
|
rs1262933856
|
0.00001
|
NM_000302.4(PLOD1):c.1097+1G>A
|
rs1389548210
|
|
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
|
|
|
NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs)
|
|
|
NM_001042545.2(LTBP4):c.3298C>T (p.Arg1100Ter)
|
|
|
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)
|
rs587780749
|
|
NM_001242882.2(NAXD):c.715C>T (p.Gln239Ter)
|
rs1331075407
|
|
NM_001378183.1(PIEZO2):c.64+1G>A
|
rs2040867555
|
|
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)
|
rs281875328
|
|
NM_001983.4(ERCC1):c.231del (p.Thr78fs)
|
rs2123520960
|
|
NM_002894.3(RBBP8):c.2048T>G (p.Leu683Ter)
|
rs2045882525
|
|
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)
|
rs549586181
|
|
NM_006892.4(DNMT3B):c.2467C>G (p.Arg823Gly)
|
rs2146098171
|
|
NM_012210.4(TRIM32):c.865_866insG (p.Leu289fs)
|
|
|
NM_012414.4(RAB3GAP2):c.1040+1G>T
|
|
|
NM_014396.4(VPS41):c.1999C>T (p.Arg667Ter)
|
|
|
NM_016038.4(SBDS):c.478C>T (p.Gln160Ter)
|
|
|
NM_016219.5(MAN1B1):c.1972del (p.Ser658fs)
|
|
|
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter)
|
rs531916765
|
|
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter)
|
rs2136431608
|
|
NM_020661.4(AICDA):c.45C>G (p.Phe15Leu)
|
rs2136433359
|
|
NM_022124.6(CDH23):c.3579+2T>C
|
rs1385831846
|
|
NM_024596.5(MCPH1):c.2214+1G>A
|
|
|
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter)
|
rs1434577015
|
|
NM_024685.4(BBS10):c.923T>C (p.Leu308Ser)
|
|
|
NM_030928.4(CDT1):c.652A>T (p.Lys218Ter)
|
|
|
NM_031885.5(BBS2):c.1544del (p.Gly515fs)
|
rs2144134987
|
|
NM_032856.5(WDR73):c.710dup (p.Gly238fs)
|
rs1282630153
|
|
NM_130837.3(OPA1):c.2885_2983+8del
|
|
|
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs)
|
rs2122235362
|
|