NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys)
|
rs148997223
|
0.00138
|
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)
|
rs146251364
|
0.00063
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)
|
rs139469785
|
0.00024
|
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter)
|
rs771578775
|
0.00006
|
NM_000391.4(TPP1):c.225A>G (p.Gln75=)
|
rs368709098
|
0.00004
|
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter)
|
rs771510541
|
0.00001
|
NM_006946.4(SPTBN2):c.1843C>T (p.Arg615Trp)
|
rs1207850001
|
0.00001
|
NM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer)
|
rs772345347
|
0.00001
|
NM_020247.5(COQ8A):c.589-3C>G
|
rs1229054489
|
0.00001
|
NM_000370.3(TTPA):c.553-1G>T
|
rs2129741848
|
|
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu)
|
rs1749878115
|
|
NM_001005920.4(JMJD8):c.*1009T>C
|
rs2151505130
|
|
NM_006796.3(AFG3L2):c.634dup (p.Val212fs)
|
rs2143196334
|
|
NM_006946.4(SPTBN2):c.157+1G>A
|
rs2135558909
|
|
NM_014363.6(SACS):c.2225G>C (p.Arg742Pro)
|
rs2137645971
|
|
NM_014363.6(SACS):c.4430T>C (p.Ile1477Thr)
|
rs2137627792
|
|
NM_015046.7(SETX):c.3242T>C (p.Phe1081Ser)
|
rs1564542121
|
|
NM_015046.7(SETX):c.7292dup (p.Asn2431fs)
|
rs2131115543
|
|
NM_018075.5(ANO10):c.1009T>G (p.Phe337Val)
|
rs1227163239
|
|
NM_018075.5(ANO10):c.206T>A (p.Leu69Ter)
|
rs2149481901
|
|
NM_020247.5(COQ8A):c.127del (p.Leu43fs)
|
rs754586499
|
|
NM_020247.5(COQ8A):c.1376T>C (p.Leu459Pro)
|
rs1433323183
|
|
NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp)
|
rs752130338
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|
NM_182961.4(SYNE1):c.15049C>T (p.Gln5017Ter)
|
rs1563088209
|
|
NM_182961.4(SYNE1):c.15434A>G (p.His5145Arg)
|
rs2153952625
|
|
NM_182961.4(SYNE1):c.3130C>T (p.Arg1044Ter)
|
rs757719808
|
|
NM_182961.4(SYNE1):c.4609C>T (p.Arg1537Ter)
|
rs983431074
|
|
NM_182961.4(SYNE1):c.6724-1G>A
|
rs2154157186
|
|
NM_182961.4(SYNE1):c.7085dup (p.Asn2362fs)
|
rs2154147676
|
|
NM_182961.4(SYNE1):c.7911G>A (p.Trp2637Ter)
|
rs2154133792
|
|