|
NM_052874.5(STX1B):c.538-7A>G
|
rs12445568
|
0.36808
|
|
NM_052874.5(STX1B):c.840A>G (p.Ser280=)
|
rs17855121
|
0.24748
|
|
NM_052874.5(STX1B):c.205+16G>A
|
rs373330091
|
0.00225
|
|
NM_052874.5(STX1B):c.609G>A (p.Lys203=)
|
rs61733980
|
0.00173
|
|
NM_052874.5(STX1B):c.786+7G>A
|
rs201785193
|
0.00078
|
|
NM_052874.5(STX1B):c.538-5C>G
|
rs145815305
|
0.00068
|
|
NM_052874.5(STX1B):c.837G>A (p.Ala279=)
|
rs150313069
|
0.00066
|
|
NM_052874.5(STX1B):c.106-15G>A
|
rs374849858
|
0.00048
|
|
NM_052874.5(STX1B):c.513G>C (p.Gly171=)
|
rs143402089
|
0.00043
|
|
NM_052874.5(STX1B):c.780C>G (p.Ala260=)
|
rs138274964
|
0.00019
|
|
NM_052874.5(STX1B):c.105+10C>T
|
rs370337339
|
0.00016
|
|
NM_052874.5(STX1B):c.786+6C>T
|
rs750134526
|
0.00011
|
|
NM_052874.5(STX1B):c.281-9C>T
|
rs777594824
|
0.00010
|
|
NM_052874.5(STX1B):c.128T>C (p.Ile43Thr)
|
rs750185897
|
0.00006
|
|
NM_052874.5(STX1B):c.32C>T (p.Ala11Val)
|
rs368619665
|
0.00006
|
|
NM_052874.5(STX1B):c.355-17C>A
|
rs373766713
|
0.00006
|
|
NM_052874.5(STX1B):c.463+13C>T
|
rs112285959
|
0.00006
|
|
NM_052874.5(STX1B):c.805A>C (p.Ile269Leu)
|
rs530737248
|
0.00006
|
|
NM_052874.5(STX1B):c.108G>A (p.Val36=)
|
rs758008534
|
0.00005
|
|
NM_052874.5(STX1B):c.171T>C (p.His57=)
|
rs200260175
|
0.00004
|
|
NM_052874.5(STX1B):c.198A>C (p.Pro66=)
|
rs965073699
|
0.00004
|
|
NM_052874.5(STX1B):c.205+15C>T
|
rs377715474
|
0.00004
|
|
NM_052874.5(STX1B):c.206-13G>A
|
rs771018075
|
0.00004
|
|
NM_052874.5(STX1B):c.274T>C (p.Leu92=)
|
rs139004170
|
0.00004
|
|
NM_052874.5(STX1B):c.282G>A (p.Ala94=)
|
rs200196812
|
0.00004
|
|
NM_052874.5(STX1B):c.354+19T>C
|
rs772881088
|
0.00004
|
|
NM_052874.5(STX1B):c.588G>A (p.Thr196=)
|
rs759427955
|
0.00004
|
|
NM_052874.5(STX1B):c.852G>A (p.Gly284=)
|
rs199880822
|
0.00004
|
|
NM_052874.5(STX1B):c.206-10C>T
|
rs773651424
|
0.00003
|
|
NM_052874.5(STX1B):c.463A>G (p.Thr155Ala)
|
rs1327694789
|
0.00003
|
|
NM_052874.5(STX1B):c.67G>A (p.Val23Met)
|
rs769729036
|
0.00003
|
|
NM_052874.5(STX1B):c.121G>A (p.Gly41Ser)
|
rs1428045237
|
0.00002
|
|
NM_052874.5(STX1B):c.174C>T (p.Ser58=)
|
rs370766953
|
0.00002
|
|
NM_052874.5(STX1B):c.280+17C>T
|
rs1328341442
|
0.00002
|
|
NM_052874.5(STX1B):c.354+15C>T
|
rs770406468
|
0.00002
|
|
NM_052874.5(STX1B):c.663C>T (p.Leu221=)
|
rs776867689
|
0.00002
|
|
NM_052874.5(STX1B):c.691C>T (p.Arg231Cys)
|
rs760876430
|
0.00002
|
|
NM_052874.5(STX1B):c.726C>T (p.Tyr242=)
|
rs747664620
|
0.00002
|
|
NM_052874.5(STX1B):c.75G>A (p.Arg25=)
|
rs747223515
|
0.00002
|
|
NM_052874.5(STX1B):c.787-3C>A
|
rs374256908
|
0.00002
|
|
NM_052874.5(STX1B):c.861C>T (p.Gly287=)
|
rs775117894
|
0.00002
|
|
NM_052874.5(STX1B):c.862T>C (p.Leu288=)
|
rs771453922
|
0.00002
|
|
NM_052874.5(STX1B):c.140C>T (p.Ser47Leu)
|
rs200979563
|
0.00001
|
|
NM_052874.5(STX1B):c.186C>T (p.Ala62=)
|
rs749799050
|
0.00001
|
|
NM_052874.5(STX1B):c.187G>T (p.Ala63Ser)
|
rs778453959
|
0.00001
|
|
NM_052874.5(STX1B):c.206-14C>T
|
rs774600832
|
0.00001
|
|
NM_052874.5(STX1B):c.251C>T (p.Thr84Met)
|
rs778653532
|
0.00001
|
|
NM_052874.5(STX1B):c.252G>A (p.Thr84=)
|
rs536678216
|
0.00001
|
|
NM_052874.5(STX1B):c.253G>T (p.Ala85Ser)
|
rs1412773144
|
0.00001
|
|
NM_052874.5(STX1B):c.26G>A (p.Arg9Gln)
|
rs774963206
|
0.00001
|
|
NM_052874.5(STX1B):c.280+10A>G
|
rs777541708
|
0.00001
|
|
NM_052874.5(STX1B):c.281-7C>T
|
rs986079804
|
0.00001
|
|
NM_052874.5(STX1B):c.30+10G>C
|
rs373070887
|
0.00001
|
|
NM_052874.5(STX1B):c.33G>A (p.Ala11=)
|
rs774354732
|
0.00001
|
|
NM_052874.5(STX1B):c.355-15C>G
|
rs201313891
|
0.00001
|
|
NM_052874.5(STX1B):c.355-5C>T
|
rs1410123185
|
0.00001
|
|
NM_052874.5(STX1B):c.355-8C>G
|
rs772649813
|
0.00001
|
|
NM_052874.5(STX1B):c.408C>G (p.Thr136=)
|
rs889628309
|
0.00001
|
|
NM_052874.5(STX1B):c.448C>A (p.Arg150=)
|
rs372213532
|
0.00001
|
|
NM_052874.5(STX1B):c.463+10C>T
|
rs757611453
|
0.00001
|
|
NM_052874.5(STX1B):c.463+3G>T
|
rs994660213
|
0.00001
|
|
NM_052874.5(STX1B):c.463+4C>A
|
rs367710164
|
0.00001
|
|
NM_052874.5(STX1B):c.464-5C>T
|
rs2056594467
|
0.00001
|
|
NM_052874.5(STX1B):c.48T>C (p.Asp16=)
|
rs373759425
|
0.00001
|
|
NM_052874.5(STX1B):c.538-10G>A
|
rs903403032
|
0.00001
|
|
NM_052874.5(STX1B):c.538-8C>T
|
rs781582150
|
0.00001
|
|
NM_052874.5(STX1B):c.560C>T (p.Thr187Met)
|
rs753358277
|
0.00001
|
|
NM_052874.5(STX1B):c.627C>T (p.Arg209=)
|
rs762943452
|
0.00001
|
|
NM_052874.5(STX1B):c.636C>T (p.His212=)
|
rs773222268
|
0.00001
|
|
NM_052874.5(STX1B):c.637G>A (p.Asp213Asn)
|
rs769892442
|
0.00001
|
|
NM_052874.5(STX1B):c.696C>T (p.Ile232=)
|
rs775771121
|
0.00001
|
|
NM_052874.5(STX1B):c.734G>A (p.Arg245Gln)
|
rs1246807785
|
0.00001
|
|
NM_052874.5(STX1B):c.741G>C (p.Val247=)
|
rs1385008089
|
0.00001
|
|
NM_052874.5(STX1B):c.828G>A (p.Val276=)
|
rs202028644
|
0.00001
|
|
NM_052874.5(STX1B):c.845T>C (p.Ile282Thr)
|
rs763428520
|
0.00001
|
|
NM_052874.5(STX1B):c.848G>T (p.Gly283Val)
|
rs773649592
|
0.00001
|
|
NM_052874.5(STX1B):c.855G>A (p.Thr285=)
|
rs762220243
|
0.00001
|
|
NM_052874.5(STX1B):c.96C>T (p.Phe32=)
|
rs758734411
|
0.00001
|
|
NC_000016.10:g.(?_31000908)_(31001623_?)del
|
|
|
|
NC_000016.9:g.(?_31003278)_(31004694_?)del
|
|
|
|
NC_000016.9:g.(?_31008252)_(31012944_?)dup
|
|
|
|
NM_052874.5(STX1B):c.*4C>A
|
rs749087140
|
|
|
NM_052874.5(STX1B):c.*9C>G
|
rs78690970
|
|
|
NM_052874.5(STX1B):c.-15_-4dup
|
|
|
|
NM_052874.5(STX1B):c.103C>A (p.Gln35Lys)
|
rs2056629841
|
|
|
NM_052874.5(STX1B):c.105+19C>T
|
|
|
|
NM_052874.5(STX1B):c.105+1_105+2delinsAA
|
|
|
|
NM_052874.5(STX1B):c.105+37C>A
|
rs61239537
|
|
|
NM_052874.5(STX1B):c.106-16C>G
|
|
|
|
NM_052874.5(STX1B):c.106-1G>C
|
rs2056626672
|
|
|
NM_052874.5(STX1B):c.106-20T>G
|
|
|
|
NM_052874.5(STX1B):c.106-6C>T
|
|
|
|
NM_052874.5(STX1B):c.114G>A (p.Glu38=)
|
|
|
|
NM_052874.5(STX1B):c.11G>A (p.Arg4Gln)
|
|
|
|
NM_052874.5(STX1B):c.120G>C (p.Arg40=)
|
|
|
|
NM_052874.5(STX1B):c.127A>T (p.Ile43Phe)
|
|
|
|
NM_052874.5(STX1B):c.136C>T (p.Leu46=)
|
rs2056626405
|
|
|
NM_052874.5(STX1B):c.140C>A (p.Ser47Ter)
|
rs200979563
|
|
|
NM_052874.5(STX1B):c.141G>A (p.Ser47=)
|
|
|
|
NM_052874.5(STX1B):c.142G>C (p.Glu48Gln)
|
|
|
|
NM_052874.5(STX1B):c.144G>A (p.Glu48=)
|
|
|
|
NM_052874.5(STX1B):c.151G>A (p.Glu51Lys)
|
|
|
|
NM_052874.5(STX1B):c.15T>C (p.Thr5=)
|
|
|
|
NM_052874.5(STX1B):c.160A>T (p.Lys54Ter)
|
rs2143677745
|
|
|
NM_052874.5(STX1B):c.161A>G (p.Lys54Arg)
|
|
|
|
NM_052874.5(STX1B):c.163A>C (p.Lys55Gln)
|
rs1463703956
|
|
|
NM_052874.5(STX1B):c.165dup (p.Gln56fs)
|
rs1596719437
|
|
|
NM_052874.5(STX1B):c.166C>T (p.Gln56Ter)
|
rs724159973
|
|
|
NM_052874.5(STX1B):c.16C>G (p.Gln6Glu)
|
rs2056675258
|
|
|
NM_052874.5(STX1B):c.175G>A (p.Ala59Thr)
|
rs202077851
|
|
|
NM_052874.5(STX1B):c.175G>T (p.Ala59Ser)
|
|
|
|
NM_052874.5(STX1B):c.178A>G (p.Ile60Val)
|
rs2056625948
|
|
|
NM_052874.5(STX1B):c.184G>T (p.Ala62Ser)
|
|
|
|
NM_052874.5(STX1B):c.19G>A (p.Glu7Lys)
|
|
|
|
NM_052874.5(STX1B):c.1A>G (p.Met1Val)
|
rs1596723978
|
|
|
NM_052874.5(STX1B):c.1A>T (p.Met1Leu)
|
rs1596723978
|
|
|
NM_052874.5(STX1B):c.201T>G (p.Asp67Glu)
|
|
|
|
NM_052874.5(STX1B):c.205+1G>A
|
rs2143677612
|
|
|
NM_052874.5(STX1B):c.205+2T>C
|
|
|
|
NM_052874.5(STX1B):c.205+2_205+3del
|
rs2056625682
|
|
|
NM_052874.5(STX1B):c.205+5G>A
|
rs2056625628
|
|
|
NM_052874.5(STX1B):c.205+6T>C
|
rs542437163
|
|
|
NM_052874.5(STX1B):c.205_205+1del
|
rs2143677618
|
|
|
NM_052874.5(STX1B):c.206-5C>G
|
rs1370221416
|
|
|
NM_052874.5(STX1B):c.206-6C>T
|
rs2056624871
|
|
|
NM_052874.5(STX1B):c.206-7C>T
|
|
|
|
NM_052874.5(STX1B):c.212A>C (p.Lys71Thr)
|
|
|
|
NM_052874.5(STX1B):c.214C>T (p.Gln72Ter)
|
rs2143677351
|
|
|
NM_052874.5(STX1B):c.215A>G (p.Gln72Arg)
|
rs748657799
|
|
|
NM_052874.5(STX1B):c.237A>G (p.Ala79=)
|
rs894670114
|
|
|
NM_052874.5(STX1B):c.252_257delinsAT (p.Ala85fs)
|
rs2056624422
|
|
|
NM_052874.5(STX1B):c.262G>T (p.Val88Phe)
|
rs995045434
|
|
|
NM_052874.5(STX1B):c.265C>T (p.Arg89Trp)
|
rs2143677205
|
|
|
NM_052874.5(STX1B):c.268T>G (p.Ser90Ala)
|
rs2056624297
|
|
|
NM_052874.5(STX1B):c.280+18T>G
|
|
|
|
NM_052874.5(STX1B):c.280+3G>A
|
rs2056624198
|
|
|
NM_052874.5(STX1B):c.280G>A (p.Ala94Thr)
|
rs2056624213
|
|
|
NM_052874.5(STX1B):c.280G>C (p.Ala94Pro)
|
rs2056624213
|
|
|
NM_052874.5(STX1B):c.281-11C>T
|
|
|
|
NM_052874.5(STX1B):c.281-13C>T
|
|
|
|
NM_052874.5(STX1B):c.281-2A>C
|
rs2143671063
|
|
|
NM_052874.5(STX1B):c.281-41_294del
|
rs2056602388
|
|
|
NM_052874.5(STX1B):c.281-8T>C
|
|
|
|
NM_052874.5(STX1B):c.281C>T (p.Ala94Val)
|
|
|
|
NM_052874.5(STX1B):c.286G>T (p.Glu96Ter)
|
rs2143671037
|
|
|
NM_052874.5(STX1B):c.293G>A (p.Ser98Asn)
|
rs781210585
|
|
|
NM_052874.5(STX1B):c.293G>C (p.Ser98Thr)
|
|
|
|
NM_052874.5(STX1B):c.296T>C (p.Ile99Thr)
|
|
|
|
NM_052874.5(STX1B):c.2T>A (p.Met1Lys)
|
|
|
|
NM_052874.5(STX1B):c.30+10G>A
|
|
|
|
NM_052874.5(STX1B):c.30+14T>G
|
|
|
|
NM_052874.5(STX1B):c.30+15G>C
|
rs1249408809
|
|
|
NM_052874.5(STX1B):c.30+19A>T
|
|
|
|
NM_052874.5(STX1B):c.30+1G>A
|
|
|
|
NM_052874.5(STX1B):c.30+3G>C
|
|
|
|
NM_052874.5(STX1B):c.30+8T>G
|
|
|
|
NM_052874.5(STX1B):c.31-15C>T
|
|
|
|
NM_052874.5(STX1B):c.31-19C>T
|
|
|
|
NM_052874.5(STX1B):c.31-20T>C
|
|
|
|
NM_052874.5(STX1B):c.31-6C>G
|
rs767091129
|
|
|
NM_052874.5(STX1B):c.311G>A (p.Gly104Glu)
|
rs2056602250
|
|
|
NM_052874.5(STX1B):c.312G>T (p.Gly104=)
|
rs766362162
|
|
|
NM_052874.5(STX1B):c.313C>G (p.Leu105Val)
|
|
|
|
NM_052874.5(STX1B):c.314T>C (p.Leu105Pro)
|
|
|
|
NM_052874.5(STX1B):c.315_321dup (p.Ser108fs)
|
|
|
|
NM_052874.5(STX1B):c.319C>T (p.Arg107Cys)
|
rs2143670951
|
|
|
NM_052874.5(STX1B):c.320G>A (p.Arg107His)
|
rs3186882
|
|
|
NM_052874.5(STX1B):c.325T>C (p.Ser109Pro)
|
|
|
|
NM_052874.5(STX1B):c.327C>G (p.Ser109=)
|
|
|
|
NM_052874.5(STX1B):c.329C>T (p.Ala110Val)
|
|
|
|
NM_052874.5(STX1B):c.334del (p.Leu112fs)
|
rs2143670891
|
|
|
NM_052874.5(STX1B):c.338_354+15del
|
|
|
|
NM_052874.5(STX1B):c.344G>C (p.Arg115Pro)
|
rs868539367
|
|
|
NM_052874.5(STX1B):c.345dup (p.Lys116fs)
|
|
|
|
NM_052874.5(STX1B):c.354+18A>G
|
|
|
|
NM_052874.5(STX1B):c.354+1G>A
|
rs1596717264
|
|
|
NM_052874.5(STX1B):c.354+1G>C
|
|
|
|
NM_052874.5(STX1B):c.354+2T>C
|
rs2143670818
|
|
|
NM_052874.5(STX1B):c.355-14del
|
|
|
|
NM_052874.5(STX1B):c.355-14dup
|
rs1232145348
|
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NM_052874.5(STX1B):c.355-15C>A
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NM_052874.5(STX1B):c.355-19C>A
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NM_052874.5(STX1B):c.355-1G>A
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NM_052874.5(STX1B):c.355-1_355delinsAA
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NM_052874.5(STX1B):c.355-2A>G
|
rs2143669495
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NM_052874.5(STX1B):c.355-3T>C
|
rs2143669499
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NM_052874.5(STX1B):c.355-4G>T
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NM_052874.5(STX1B):c.35A>G (p.Lys12Arg)
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rs2056630459
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NM_052874.5(STX1B):c.35_36dup (p.Asp13fs)
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rs1567379671
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NM_052874.5(STX1B):c.366del (p.Ser123fs)
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NM_052874.5(STX1B):c.372G>C (p.Arg124=)
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NM_052874.5(STX1B):c.378C>T (p.Phe126=)
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rs2143669433
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NM_052874.5(STX1B):c.382del (p.Glu128fs)
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NM_052874.5(STX1B):c.391A>G (p.Thr131Ala)
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rs2143669401
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NM_052874.5(STX1B):c.394G>T (p.Glu132Ter)
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rs1567378099
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NM_052874.5(STX1B):c.39del (p.Asp13fs)
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NM_052874.5(STX1B):c.403G>A (p.Ala135Thr)
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rs2056596800
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NM_052874.5(STX1B):c.404del (p.Ala135fs)
|
rs1596716888
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NM_052874.5(STX1B):c.407C>G (p.Thr136Ser)
|
rs2143669353
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NM_052874.5(STX1B):c.417G>A (p.Lys139=)
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rs1174496810
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NM_052874.5(STX1B):c.426C>T (p.Asp142=)
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rs1234767441
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NM_052874.5(STX1B):c.428G>A (p.Arg143His)
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rs780166656
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NM_052874.5(STX1B):c.430T>C (p.Cys144Arg)
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rs2143669286
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NM_052874.5(STX1B):c.432C>T (p.Cys144=)
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NM_052874.5(STX1B):c.438C>T (p.Asp146=)
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NM_052874.5(STX1B):c.446A>G (p.Gln149Arg)
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NM_052874.5(STX1B):c.448C>T (p.Arg150Trp)
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NM_052874.5(STX1B):c.451C>T (p.Gln151Ter)
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NM_052874.5(STX1B):c.463+15C>A
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NM_052874.5(STX1B):c.463+15del
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NM_052874.5(STX1B):c.463+17C>T
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rs753056163
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NM_052874.5(STX1B):c.463+1G>A
|
rs2056596353
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NM_052874.5(STX1B):c.463+5G>C
|
rs1596716834
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NM_052874.5(STX1B):c.463+5G>T
|
rs1596716834
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NM_052874.5(STX1B):c.463+6T>A
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rs1567378057
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NM_052874.5(STX1B):c.464-19G>T
|
rs777879527
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NM_052874.5(STX1B):c.464-1G>T
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NM_052874.5(STX1B):c.464-20G>C
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NM_052874.5(STX1B):c.464-4G>A
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NM_052874.5(STX1B):c.464-7C>T
|
rs753006506
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NM_052874.5(STX1B):c.474C>A (p.Thr158=)
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NM_052874.5(STX1B):c.474C>T (p.Thr158=)
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NM_052874.5(STX1B):c.479C>T (p.Thr160Ile)
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NM_052874.5(STX1B):c.482A>G (p.Asn161Ser)
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NM_052874.5(STX1B):c.491T>C (p.Leu164Pro)
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NM_052874.5(STX1B):c.4A>G (p.Lys2Glu)
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NM_052874.5(STX1B):c.503T>C (p.Leu168Pro)
|
rs1555494226
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NM_052874.5(STX1B):c.504G>A (p.Leu168=)
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NM_052874.5(STX1B):c.510C>G (p.Ser170Arg)
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NM_052874.5(STX1B):c.522C>T (p.Ala174=)
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NM_052874.5(STX1B):c.533A>G (p.Asp178Gly)
|
rs1596716568
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NM_052874.5(STX1B):c.534T>C (p.Asp178=)
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NM_052874.5(STX1B):c.537+10G>A
|
rs753334289
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NM_052874.5(STX1B):c.537+10G>C
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NM_052874.5(STX1B):c.537+11G>T
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NM_052874.5(STX1B):c.537+13T>G
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NM_052874.5(STX1B):c.537+14G>A
|
rs2143668484
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NM_052874.5(STX1B):c.537+15G>A
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NM_052874.5(STX1B):c.537+16G>C
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NM_052874.5(STX1B):c.537+2T>C
|
rs1555494222
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NM_052874.5(STX1B):c.537+3G>C
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NM_052874.5(STX1B):c.537+8G>C
|
rs964395687
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NM_052874.5(STX1B):c.538-11C>T
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NM_052874.5(STX1B):c.538-18T>C
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NM_052874.5(STX1B):c.538-19C>T
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NM_052874.5(STX1B):c.538-7_538-6insG
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NM_052874.5(STX1B):c.538-8_538-7inv
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NM_052874.5(STX1B):c.540C>G (p.Ile180Met)
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NM_052874.5(STX1B):c.542A>G (p.Lys181Arg)
|
rs2143662002
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NM_052874.5(STX1B):c.548A>T (p.Asp183Val)
|
rs2056574366
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NM_052874.5(STX1B):c.555G>A (p.Gln185=)
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NM_052874.5(STX1B):c.561G>A (p.Thr187=)
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NM_052874.5(STX1B):c.565C>T (p.Gln189Ter)
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NM_052874.5(STX1B):c.570G>A (p.Ala190=)
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NM_052874.5(STX1B):c.572T>C (p.Leu191Pro)
|
rs2056574153
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NM_052874.5(STX1B):c.575A>G (p.Asn192Ser)
|
rs576127046
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NM_052874.5(STX1B):c.587C>T (p.Thr196Met)
|
rs2056574109
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NM_052874.5(STX1B):c.595A>G (p.Asn199Asp)
|
rs1596714723
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NM_052874.5(STX1B):c.602TCA[1] (p.Ile202del)
|
rs2143661890
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NM_052874.5(STX1B):c.60G>T (p.Val20=)
|
rs772989451
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NM_052874.5(STX1B):c.612G>A (p.Leu204=)
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NM_052874.5(STX1B):c.619A>G (p.Ser207Gly)
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NM_052874.5(STX1B):c.622A>G (p.Ile208Val)
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NM_052874.5(STX1B):c.626G>A (p.Arg209His)
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NM_052874.5(STX1B):c.627C>G (p.Arg209=)
|
rs762943452
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NM_052874.5(STX1B):c.628G>A (p.Glu210Lys)
|
rs2056573886
|
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NM_052874.5(STX1B):c.62T>C (p.Val21Ala)
|
rs1397633628
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NM_052874.5(STX1B):c.631C>G (p.Leu211Val)
|
rs2143661836
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NM_052874.5(STX1B):c.632T>C (p.Leu211Pro)
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NM_052874.5(STX1B):c.647T>A (p.Val216Glu)
|
rs724159974
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NM_052874.5(STX1B):c.652A>C (p.Met218Leu)
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NM_052874.5(STX1B):c.655_660dup (p.Met220_Leu221insAlaMet)
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NM_052874.5(STX1B):c.675+11T>C
|
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NM_052874.5(STX1B):c.675+17C>T
|
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NM_052874.5(STX1B):c.676-17G>A
|
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NM_052874.5(STX1B):c.676-2A>G
|
rs2056573081
|
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NM_052874.5(STX1B):c.676-6C>T
|
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NM_052874.5(STX1B):c.676-7_676-4del
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NM_052874.5(STX1B):c.676-8G>A
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NM_052874.5(STX1B):c.676G>C (p.Gly226Arg)
|
rs727502806
|
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NM_052874.5(STX1B):c.686_688del (p.Ile229_Asp230delinsAsn)
|
rs1596714579
|
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NM_052874.5(STX1B):c.687T>C (p.Ile229=)
|
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|
NM_052874.5(STX1B):c.692G>A (p.Arg231His)
|
rs1183707872
|
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NM_052874.5(STX1B):c.696C>G (p.Ile232Met)
|
|
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|
NM_052874.5(STX1B):c.69G>A (p.Val23=)
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NM_052874.5(STX1B):c.6G>C (p.Lys2Asn)
|
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|
NM_052874.5(STX1B):c.701_702insACATTGACCG (p.Tyr234Ter)
|
rs2143661528
|
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NM_052874.5(STX1B):c.733C>T (p.Arg245Ter)
|
rs780843272
|
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NM_052874.5(STX1B):c.73C>G (p.Arg25Gly)
|
rs548580499
|
|
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NM_052874.5(STX1B):c.74G>A (p.Arg25Gln)
|
|
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|
NM_052874.5(STX1B):c.755A>T (p.Lys252Ile)
|
rs1057524236
|
|
|
NM_052874.5(STX1B):c.773G>A (p.Ser258Asn)
|
rs2056572447
|
|
|
NM_052874.5(STX1B):c.774C>T (p.Ser258=)
|
rs2056572426
|
|
|
NM_052874.5(STX1B):c.781C>T (p.Arg261Trp)
|
|
|
|
NM_052874.5(STX1B):c.782G>A (p.Arg261Gln)
|
rs779750229
|
|
|
NM_052874.5(STX1B):c.783G>A (p.Arg261=)
|
rs1054267632
|
|
|
NM_052874.5(STX1B):c.785G>A (p.Arg262Lys)
|
rs2056572301
|
|
|
NM_052874.5(STX1B):c.786+15C>G
|
rs371578393
|
|
|
NM_052874.5(STX1B):c.786+15C>T
|
rs371578393
|
|
|
NM_052874.5(STX1B):c.786+16G>A
|
rs764141145
|
|
|
NM_052874.5(STX1B):c.786+17G>T
|
|
|
|
NM_052874.5(STX1B):c.786+1G>A
|
|
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|
NM_052874.5(STX1B):c.786+1G>T
|
|
|
|
NM_052874.5(STX1B):c.786+5G>A
|
rs2056572281
|
|
|
NM_052874.5(STX1B):c.786+9G>C
|
rs2143661269
|
|
|
NM_052874.5(STX1B):c.787-11T>C
|
|
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|
NM_052874.5(STX1B):c.787-13_787-12del
|
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|
NM_052874.5(STX1B):c.787-15C>T
|
|
|
|
NM_052874.5(STX1B):c.787-15_787-13del
|
rs1311240614
|
|
|
NM_052874.5(STX1B):c.787-18C>T
|
|
|
|
NM_052874.5(STX1B):c.787-9C>G
|
|
|
|
NM_052874.5(STX1B):c.78C>T (p.Asp26=)
|
rs2143678765
|
|
|
NM_052874.5(STX1B):c.798G>C (p.Met266Ile)
|
|
|
|
NM_052874.5(STX1B):c.802A>G (p.Ile268Val)
|
|
|
|
NM_052874.5(STX1B):c.815del (p.Val272fs)
|
|
|
|
NM_052874.5(STX1B):c.823G>A (p.Gly275Arg)
|
rs1596714308
|
|
|
NM_052874.5(STX1B):c.828G>T (p.Val276=)
|
rs202028644
|
|
|
NM_052874.5(STX1B):c.833T>C (p.Leu278Ser)
|
rs2056569948
|
|
|
NM_052874.5(STX1B):c.836C>T (p.Ala279Val)
|
|
|
|
NM_052874.5(STX1B):c.841T>C (p.Ser281Pro)
|
rs1596714288
|
|
|
NM_052874.5(STX1B):c.845T>A (p.Ile282Asn)
|
rs763428520
|
|
|
NM_052874.5(STX1B):c.847G>C (p.Gly283Arg)
|
rs2143660672
|
|
|
NM_052874.5(STX1B):c.849G>C (p.Gly283=)
|
rs369401261
|
|
|
NM_052874.5(STX1B):c.84C>T (p.Phe28=)
|
|
|
|
NM_052874.5(STX1B):c.850G>A (p.Gly284Arg)
|
rs2143660649
|
|
|
NM_052874.5(STX1B):c.852del (p.Thr285fs)
|
rs762705451
|
|
|
NM_052874.5(STX1B):c.852dup (p.Thr285fs)
|
rs762705451
|
|
|
NM_052874.5(STX1B):c.854C>T (p.Thr285Met)
|
|
|
|
NM_052874.5(STX1B):c.861C>A (p.Gly287=)
|
rs775117894
|
|
|
NM_052874.5(STX1B):c.864G>A (p.Leu288=)
|
rs2143660577
|
|
|
NM_052874.5(STX1B):c.96C>A (p.Phe32Leu)
|
rs758734411
|
|
|
NM_052874.5(STX1B):c.[133_134insGGATGTGCATTG;135_136delinsGA]
|
|
|