NM_000100.4(CSTB):c.67-1G>C
|
rs147484110
|
0.00027
|
NM_004287.5(GOSR2):c.336+1G>A
|
rs141554661
|
0.00026
|
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp)
|
rs387906881
|
0.00009
|
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter)
|
rs200053119
|
0.00003
|
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)
|
rs104893950
|
0.00003
|
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)
|
rs74315442
|
0.00002
|
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter)
|
rs545986367
|
0.00001
|
NM_004287.5(GOSR2):c.184A>T (p.Lys62Ter)
|
rs1380954046
|
0.00001
|
NM_004287.5(GOSR2):c.301C>T (p.Arg101Ter)
|
rs764802895
|
0.00001
|
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter)
|
rs886041078
|
0.00001
|
NM_005506.4(SCARB2):c.704+1G>A
|
rs886041076
|
0.00001
|
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter)
|
rs121909118
|
0.00001
|
NM_005670.4(EPM2A):c.301+1G>T
|
rs1361221383
|
0.00001
|
NM_005670.4(EPM2A):c.302-1G>C
|
rs369463720
|
0.00001
|
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys)
|
rs137852915
|
0.00001
|
NC_000004.11:g.(?_76481293)_(77700330_?)del
|
|
|
NC_000004.12:g.76163382CT[1]
|
|
|
NC_000006.11:g.(?_145948552)_(145956642_?)del
|
|
|
NC_000006.11:g.(?_146056334)_(146056634_?)del
|
|
|
NC_000006.12:g.(?_145625675)_(145635506_?)del
|
|
|
NC_000006.12:g.(?_145686102)_(145686316_?)del
|
|
|
NC_000017.10:g.(?_44845686)_(45016126_?)del
|
|
|
NC_000017.11:g.(?_46923173)_(46940633_?)del
|
|
|
NC_000021.8:g.(?_43160998)_(47754702_?)del
|
|
|
NC_000021.8:g.(?_44838120)_(45629566_?)del
|
|
|
NC_000021.8:g.(?_45194083)_(45196150_?)del
|
|
|
NM_000100.4(CSTB):c.121del (p.Val41fs)
|
rs1257171692
|
|
NM_000100.4(CSTB):c.145del (p.Ala49fs)
|
|
|
NM_000100.4(CSTB):c.200_203dup (p.Val69fs)
|
rs1601855887
|
|
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)
|
rs796943858
|
|
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter)
|
rs1569006250
|
|
NM_004287.5(GOSR2):c.161del (p.Leu54fs)
|
rs2146892080
|
|
NM_004287.5(GOSR2):c.16C>T (p.Gln6Ter)
|
rs2146691974
|
|
NM_004287.5(GOSR2):c.186_187del (p.Arg63fs)
|
|
|
NM_004287.5(GOSR2):c.210del (p.Asp71fs)
|
rs2146911959
|
|
NM_004287.5(GOSR2):c.221dup (p.Tyr75fs)
|
|
|
NM_004287.5(GOSR2):c.22dup (p.Thr8fs)
|
rs746855352
|
|
NM_004287.5(GOSR2):c.262C>T (p.Gln88Ter)
|
|
|
NM_004287.5(GOSR2):c.262del (p.Gln88fs)
|
rs776869841
|
|
NM_004287.5(GOSR2):c.82C>T (p.Gln28Ter)
|
rs1466441723
|
|
NM_004287.5(GOSR2):c.89_90del (p.Val30fs)
|
rs1330994397
|
|
NM_005506.4(SCARB2):c.1002dup (p.Ile335fs)
|
rs780638384
|
|
NM_005506.4(SCARB2):c.1030C>T (p.Gln344Ter)
|
|
|
NM_005506.4(SCARB2):c.1260_1261dup (p.Thr421fs)
|
|
|
NM_005506.4(SCARB2):c.226del (p.Leu76fs)
|
|
|
NM_005506.4(SCARB2):c.235del (p.Glu79fs)
|
rs1732698125
|
|
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs)
|
rs727502773
|
|
NM_005506.4(SCARB2):c.638_639del (p.Tyr213fs)
|
rs2109944333
|
|
NM_005506.4(SCARB2):c.666_670del (p.Tyr222_Asn224delinsTer)
|
rs886041075
|
|
NM_005506.4(SCARB2):c.850del (p.Tyr284fs)
|
rs2109942038
|
|
NM_005506.4(SCARB2):c.88C>T (p.Gln30Ter)
|
|
|
NM_005506.4(SCARB2):c.956del (p.Leu319fs)
|
rs1732195544
|
|
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs)
|
rs1204045237
|
|
NM_005670.4(EPM2A):c.118del (p.Arg39_Leu40insTer)
|
rs1170939620
|
|
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter)
|
rs187930476
|
|
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)
|
|
|
NM_005670.4(EPM2A):c.256T>G (p.Tyr86Asp)
|
|
|
NM_005670.4(EPM2A):c.258C>G (p.Tyr86Ter)
|
rs750988816
|
|
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)
|
|
|
NM_005670.4(EPM2A):c.301+2T>C
|
|
|
NM_005670.4(EPM2A):c.302-2A>G
|
rs780648601
|
|
NM_005670.4(EPM2A):c.363_364dup (p.Tyr122fs)
|
rs1780901751
|
|
NM_005670.4(EPM2A):c.466_469dup (p.Tyr157fs)
|
rs1554263320
|
|
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter)
|
rs781291421
|
|
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu)
|
rs1387516050
|
|
NM_005670.4(EPM2A):c.74C>A (p.Ser25Ter)
|
rs1776817138
|
|
NM_005670.4(EPM2A):c.759_760insATGCA (p.Ala254fs)
|
rs1775923311
|
|
NM_005670.4(EPM2A):c.794A>G (p.His265Arg)
|
rs201053542
|
|
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)
|
rs137852917
|
|
NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys)
|
rs137852917
|
|
NM_005670.4(EPM2A):c.861G>A (p.Trp287Ter)
|
|
|
NM_005670.4(EPM2A):c.92_124del (p.Arg31_Arg41del)
|
rs2128649765
|
|
NM_005670.4(EPM2A):c.934dup (p.Arg312fs)
|
rs2128555980
|
|
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly)
|
rs104893955
|
|
NM_005670.4(EPM2A):c.96G>A (p.Trp32Ter)
|
|
|