NM_000100.4(CSTB):c.67-3T>C
|
rs6383
|
0.00473
|
NM_000100.4(CSTB):c.121G>A (p.Val41Met)
|
rs143153487
|
0.00101
|
NM_000100.4(CSTB):c.67-1G>C
|
rs147484110
|
0.00027
|
NM_000100.4(CSTB):c.145G>A (p.Ala49Thr)
|
rs559906825
|
0.00010
|
NM_000100.4(CSTB):c.183C>T (p.Asp61=)
|
rs772899788
|
0.00009
|
NM_000100.4(CSTB):c.120C>T (p.Ala40=)
|
rs368198839
|
0.00004
|
NM_000100.4(CSTB):c.147G>A (p.Ala49=)
|
rs766654703
|
0.00004
|
NM_000100.4(CSTB):c.175G>A (p.Val59Ile)
|
rs531685360
|
0.00004
|
NM_000100.4(CSTB):c.192C>T (p.Phe64=)
|
rs773820884
|
0.00004
|
NM_000100.4(CSTB):c.221C>T (p.Pro74Leu)
|
rs753004113
|
0.00004
|
NM_000100.4(CSTB):c.224A>G (p.His75Arg)
|
rs755073483
|
0.00004
|
NM_000100.4(CSTB):c.264C>T (p.Asn88=)
|
rs767258722
|
0.00004
|
NM_000100.4(CSTB):c.67-10T>G
|
rs199873087
|
0.00004
|
NM_000100.4(CSTB):c.67-12C>T
|
rs776841907
|
0.00004
|
NM_000100.4(CSTB):c.167A>G (p.Lys56Arg)
|
rs935774172
|
0.00003
|
NM_000100.4(CSTB):c.96C>T (p.Asn32=)
|
rs1436155713
|
0.00003
|
NM_000100.4(CSTB):c.158A>G (p.Tyr53Cys)
|
rs762082236
|
0.00002
|
NM_000100.4(CSTB):c.168+13C>T
|
rs910966552
|
0.00002
|
NM_000100.4(CSTB):c.180C>T (p.Gly60=)
|
rs771027631
|
0.00002
|
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)
|
rs74315442
|
0.00002
|
NM_000100.4(CSTB):c.235C>T (p.Pro79Ser)
|
rs766285245
|
0.00002
|
NM_000100.4(CSTB):c.135C>T (p.Ser45=)
|
rs375008755
|
0.00001
|
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter)
|
rs545986367
|
0.00001
|
NM_000100.4(CSTB):c.155A>T (p.Asn52Ile)
|
rs541671661
|
0.00001
|
NM_000100.4(CSTB):c.160T>G (p.Phe54Val)
|
rs774291632
|
0.00001
|
NM_000100.4(CSTB):c.169-10C>G
|
rs1487271257
|
0.00001
|
NM_000100.4(CSTB):c.169G>T (p.Val57Leu)
|
rs796052394
|
0.00001
|
NM_000100.4(CSTB):c.174C>T (p.His58=)
|
rs763095750
|
0.00001
|
NM_000100.4(CSTB):c.177C>T (p.Val59=)
|
rs765477010
|
0.00001
|
NM_000100.4(CSTB):c.184G>A (p.Glu62Lys)
|
rs147307021
|
0.00001
|
NM_000100.4(CSTB):c.196C>T (p.His66Tyr)
|
rs748818442
|
0.00001
|
NM_000100.4(CSTB):c.201G>A (p.Leu67=)
|
rs1249703879
|
0.00001
|
NM_000100.4(CSTB):c.213A>G (p.Gln71=)
|
rs758639236
|
0.00001
|
NM_000100.4(CSTB):c.243C>T (p.Thr81=)
|
rs2083999070
|
0.00001
|
NM_000100.4(CSTB):c.268G>A (p.Ala90Thr)
|
rs761504637
|
0.00001
|
NM_000100.4(CSTB):c.269C>G (p.Ala90Gly)
|
rs138337167
|
0.00001
|
NM_000100.4(CSTB):c.274C>T (p.His92Tyr)
|
rs796052393
|
0.00001
|
NM_000100.4(CSTB):c.290A>G (p.Tyr97Cys)
|
rs1186810947
|
0.00001
|
NM_000100.4(CSTB):c.85G>A (p.Glu29Lys)
|
rs1358304104
|
0.00001
|
NC_000021.8:g.(?_45194083)_(45196150_?)del
|
|
|
NC_000021.9:g.(?_43772665)_(43777375_?)dup
|
|
|
NM_000100.4(CSTB):c.100A>G (p.Lys34Glu)
|
rs2084002121
|
|
NM_000100.4(CSTB):c.106C>T (p.Pro36Ser)
|
rs748162136
|
|
NM_000100.4(CSTB):c.111G>A (p.Val37=)
|
|
|
NM_000100.4(CSTB):c.113T>A (p.Phe38Tyr)
|
rs1365612504
|
|
NM_000100.4(CSTB):c.116A>G (p.Lys39Arg)
|
|
|
NM_000100.4(CSTB):c.121del (p.Val41fs)
|
rs1257171692
|
|
NM_000100.4(CSTB):c.137A>G (p.Gln46Arg)
|
|
|
NM_000100.4(CSTB):c.139G>C (p.Val47Leu)
|
rs140799752
|
|
NM_000100.4(CSTB):c.140T>G (p.Val47Gly)
|
rs2084001744
|
|
NM_000100.4(CSTB):c.144C>T (p.Val48=)
|
|
|
NM_000100.4(CSTB):c.145del (p.Ala49fs)
|
|
|
NM_000100.4(CSTB):c.146C>A (p.Ala49Glu)
|
rs754421704
|
|
NM_000100.4(CSTB):c.168+19G>T
|
|
|
NM_000100.4(CSTB):c.168+5A>G
|
|
|
NM_000100.4(CSTB):c.168+6G>C
|
|
|
NM_000100.4(CSTB):c.168+7T>C
|
|
|
NM_000100.4(CSTB):c.168+8G>A
|
rs556221258
|
|
NM_000100.4(CSTB):c.169-13G>A
|
|
|
NM_000100.4(CSTB):c.169G>A (p.Val57Met)
|
rs796052394
|
|
NM_000100.4(CSTB):c.172C>T (p.His58Tyr)
|
rs2083999686
|
|
NM_000100.4(CSTB):c.189C>G (p.Asp63Glu)
|
|
|
NM_000100.4(CSTB):c.191T>G (p.Phe64Cys)
|
rs1569005540
|
|
NM_000100.4(CSTB):c.193G>A (p.Val65Ile)
|
rs570768038
|
|
NM_000100.4(CSTB):c.193G>C (p.Val65Leu)
|
rs570768038
|
|
NM_000100.4(CSTB):c.200_203dup (p.Val69fs)
|
rs1601855887
|
|
NM_000100.4(CSTB):c.203G>C (p.Arg68Pro)
|
rs757707761
|
|
NM_000100.4(CSTB):c.207G>T (p.Val69=)
|
|
|
NM_000100.4(CSTB):c.214T>C (p.Ser72Pro)
|
rs796052392
|
|
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)
|
rs796943858
|
|
NM_000100.4(CSTB):c.232A>C (p.Lys78Gln)
|
rs2083999131
|
|
NM_000100.4(CSTB):c.246A>G (p.Leu82=)
|
rs2123385440
|
|
NM_000100.4(CSTB):c.251_254del (p.Asn84fs)
|
rs1555888363
|
|
NM_000100.4(CSTB):c.273G>A (p.Lys91=)
|
rs540215875
|
|
NM_000100.4(CSTB):c.294C>T (p.Phe98=)
|
rs2123385381
|
|
NM_000100.4(CSTB):c.295T>C (p.Ter99Arg)
|
rs2083998796
|
|
NM_000100.4(CSTB):c.67-4C>G
|
rs2084002305
|
|
NM_000100.4(CSTB):c.96_98del (p.Asn32del)
|
rs750620672
|
|