NM_203446.3(SYNJ1):c.6G>A (p.Ala2=)
|
rs61750221
|
0.00452
|
NM_203446.3(SYNJ1):c.*728C>T
|
rs2230767
|
0.00284
|
NM_203446.3(SYNJ1):c.1030G>A (p.Ala344Thr)
|
rs114942253
|
0.00255
|
NM_203446.3(SYNJ1):c.3590C>T (p.Thr1197Met)
|
rs145937537
|
0.00200
|
NM_203446.3(SYNJ1):c.*4G>A
|
rs115648918
|
0.00158
|
NM_203446.3(SYNJ1):c.*761C>T
|
rs111516740
|
0.00143
|
NM_203446.3(SYNJ1):c.*223A>G
|
rs113978322
|
0.00139
|
NM_203446.3(SYNJ1):c.3205A>G (p.Ser1069Gly)
|
rs149817769
|
0.00105
|
NM_203446.3(SYNJ1):c.2346G>A (p.Pro782=)
|
rs61753644
|
0.00088
|
NM_203446.3(SYNJ1):c.2120T>C (p.Ile707Thr)
|
rs147929290
|
0.00074
|
NM_203446.3(SYNJ1):c.*552G>A
|
rs146425050
|
0.00064
|
NM_203446.3(SYNJ1):c.*443G>A
|
rs532034867
|
0.00037
|
NM_203446.3(SYNJ1):c.*312C>T
|
rs149199429
|
0.00036
|
NM_203446.3(SYNJ1):c.1830C>G (p.Leu610=)
|
rs115658799
|
0.00030
|
NM_203446.3(SYNJ1):c.909A>G (p.Gly303=)
|
rs145522240
|
0.00026
|
NM_203446.3(SYNJ1):c.125-17A>G
|
rs113560074
|
0.00024
|
NM_203446.3(SYNJ1):c.2874+5G>A
|
rs371765751
|
0.00024
|
NM_203446.3(SYNJ1):c.2997T>C (p.Leu999=)
|
rs111774827
|
0.00024
|
NM_203446.3(SYNJ1):c.*333C>T
|
rs548047319
|
0.00023
|
NM_203446.3(SYNJ1):c.2875-5G>A
|
rs376206541
|
0.00021
|
NM_203446.3(SYNJ1):c.1726+18T>C
|
rs780148215
|
0.00019
|
NM_203446.3(SYNJ1):c.1953-10T>C
|
rs368736353
|
0.00018
|
NM_203446.3(SYNJ1):c.2937A>G (p.Glu979=)
|
rs574473408
|
0.00018
|
NM_203446.3(SYNJ1):c.3591G>A (p.Thr1197=)
|
rs764207431
|
0.00017
|
NM_203446.3(SYNJ1):c.3517+13G>C
|
rs370311881
|
0.00016
|
NM_203446.3(SYNJ1):c.3746C>T (p.Pro1249Leu)
|
rs149288077
|
0.00016
|
NM_203446.3(SYNJ1):c.421T>C (p.Leu141=)
|
rs140461566
|
0.00016
|
NM_203446.3(SYNJ1):c.435G>A (p.Ala145=)
|
rs151248057
|
0.00016
|
NM_203446.3(SYNJ1):c.831C>T (p.Ala277=)
|
rs148732160
|
0.00016
|
NM_203446.3(SYNJ1):c.-34C>T
|
rs968709804
|
0.00014
|
NM_203446.3(SYNJ1):c.1257T>G (p.Thr419=)
|
rs76972835
|
0.00013
|
NM_203446.3(SYNJ1):c.2739C>T (p.Ala913=)
|
rs267606107
|
0.00013
|
NM_203446.3(SYNJ1):c.3753T>G (p.Ser1251=)
|
rs150595970
|
0.00012
|
NM_203446.3(SYNJ1):c.2795+16T>A
|
rs533093953
|
0.00011
|
NM_203446.3(SYNJ1):c.38T>C (p.Leu13Ser)
|
rs779059079
|
0.00010
|
NM_203446.3(SYNJ1):c.2205C>T (p.Ile735=)
|
rs149236383
|
0.00009
|
NM_203446.3(SYNJ1):c.2325A>G (p.Glu775=)
|
rs547415470
|
0.00009
|
NM_203446.3(SYNJ1):c.3762C>T (p.Pro1254=)
|
rs201117151
|
0.00009
|
NM_203446.3(SYNJ1):c.2304+20A>G
|
rs142813430
|
0.00008
|
NM_203446.3(SYNJ1):c.2795+10T>C
|
rs756959605
|
0.00008
|
NM_203446.3(SYNJ1):c.462T>A (p.Thr154=)
|
rs369978981
|
0.00008
|
NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile)
|
rs373820739
|
0.00007
|
NM_203446.3(SYNJ1):c.2439G>A (p.Arg813=)
|
rs143244716
|
0.00007
|
NM_203446.3(SYNJ1):c.3588+20G>A
|
rs1001527639
|
0.00007
|
NM_203446.3(SYNJ1):c.*411C>T
|
rs369666497
|
0.00006
|
NM_203446.3(SYNJ1):c.-31G>C
|
rs751083536
|
0.00006
|
NM_203446.3(SYNJ1):c.1045A>G (p.Ser349Gly)
|
rs202234473
|
0.00006
|
NM_203446.3(SYNJ1):c.1245T>C (p.Pro415=)
|
rs111655347
|
0.00006
|
NM_203446.3(SYNJ1):c.1968T>C (p.Asp656=)
|
rs140112176
|
0.00006
|
NM_203446.3(SYNJ1):c.2157A>G (p.Leu719=)
|
rs112875942
|
0.00006
|
NM_203446.3(SYNJ1):c.2580-20A>G
|
rs770095122
|
0.00006
|
NM_203446.3(SYNJ1):c.2909G>C (p.Ser970Thr)
|
rs537389515
|
0.00006
|
NM_203446.3(SYNJ1):c.2955A>G (p.Lys985=)
|
rs534726886
|
0.00006
|
NM_203446.3(SYNJ1):c.3392-5A>G
|
rs776721216
|
0.00006
|
NM_203446.3(SYNJ1):c.3697+12T>G
|
rs763338383
|
0.00006
|
NM_203446.3(SYNJ1):c.*618A>G
|
rs139212871
|
0.00005
|
NM_203446.3(SYNJ1):c.*721C>T
|
rs748387512
|
0.00005
|
NM_203446.3(SYNJ1):c.1119-7G>C
|
rs562245468
|
0.00005
|
NM_203446.3(SYNJ1):c.1510+20T>C
|
rs112067922
|
0.00005
|
NM_203446.3(SYNJ1):c.1535C>T (p.Ala512Val)
|
rs115989459
|
0.00005
|
NM_203446.3(SYNJ1):c.2172T>C (p.Tyr724=)
|
rs144454116
|
0.00005
|
NM_203446.3(SYNJ1):c.2976A>G (p.Ser992=)
|
rs115204185
|
0.00005
|
NM_203446.3(SYNJ1):c.3378T>A (p.Pro1126=)
|
rs376132504
|
0.00005
|
NM_203446.3(SYNJ1):c.211+19A>G
|
rs553611765
|
0.00004
|
NM_203446.3(SYNJ1):c.2217C>T (p.Asn739=)
|
rs753774552
|
0.00004
|
NM_203446.3(SYNJ1):c.2586C>T (p.Val862=)
|
rs771973400
|
0.00004
|
NM_203446.3(SYNJ1):c.3248-18C>T
|
rs538157711
|
0.00004
|
NM_203446.3(SYNJ1):c.3261C>T (p.Asp1087=)
|
rs923667676
|
0.00004
|
NM_203446.3(SYNJ1):c.3392-20A>G
|
rs375300586
|
0.00004
|
NM_203446.3(SYNJ1):c.480-17A>C
|
rs1030947495
|
0.00004
|
NM_203446.3(SYNJ1):c.597G>A (p.Ala199=)
|
rs763090745
|
0.00004
|
NM_203446.3(SYNJ1):c.*666A>G
|
rs763776246
|
0.00003
|
NM_203446.3(SYNJ1):c.*729G>A
|
rs771278245
|
0.00003
|
NM_203446.3(SYNJ1):c.*738C>T
|
rs747245690
|
0.00003
|
NM_203446.3(SYNJ1):c.-22-10G>A
|
rs375719186
|
0.00003
|
NM_203446.3(SYNJ1):c.-23+11C>T
|
rs1000113626
|
0.00003
|
NM_203446.3(SYNJ1):c.1002C>T (p.Asp334=)
|
rs763601982
|
0.00003
|
NM_203446.3(SYNJ1):c.125-13del
|
rs763797914
|
0.00003
|
NM_203446.3(SYNJ1):c.1511-4A>G
|
rs533995497
|
0.00003
|
NM_203446.3(SYNJ1):c.1534+16T>A
|
rs1244807022
|
0.00003
|
NM_203446.3(SYNJ1):c.1611C>T (p.Val537=)
|
rs150180190
|
0.00003
|
NM_203446.3(SYNJ1):c.165A>G (p.Lys55=)
|
rs141138675
|
0.00003
|
NM_203446.3(SYNJ1):c.2146-8G>A
|
rs759701632
|
0.00003
|
NM_203446.3(SYNJ1):c.243C>T (p.Val81=)
|
rs769645055
|
0.00003
|
NM_203446.3(SYNJ1):c.2520G>A (p.Thr840=)
|
rs746832641
|
0.00003
|
NM_203446.3(SYNJ1):c.2587G>A (p.Val863Ile)
|
rs377350366
|
0.00003
|
NM_203446.3(SYNJ1):c.3037+18A>G
|
rs780721031
|
0.00003
|
NM_203446.3(SYNJ1):c.324C>T (p.Ile108=)
|
rs551070196
|
0.00003
|
NM_203446.3(SYNJ1):c.3392-8A>T
|
rs533064963
|
0.00003
|
NM_203446.3(SYNJ1):c.3431-8C>A
|
rs369584002
|
0.00003
|
NM_203446.3(SYNJ1):c.705+17A>G
|
rs751404810
|
0.00003
|
NM_203446.3(SYNJ1):c.706-19A>G
|
rs544943206
|
0.00003
|
NM_203446.3(SYNJ1):c.790-20A>G
|
rs754054175
|
0.00003
|
NM_203446.3(SYNJ1):c.*148A>C
|
rs777068962
|
0.00002
|
NM_203446.3(SYNJ1):c.*720T>C
|
rs1016040846
|
0.00002
|
NM_203446.3(SYNJ1):c.*762G>A
|
rs763042220
|
0.00002
|
NM_203446.3(SYNJ1):c.*9A>G
|
rs758118019
|
0.00002
|
NM_203446.3(SYNJ1):c.-49A>G
|
rs780877494
|
0.00002
|
NM_203446.3(SYNJ1):c.-64C>T
|
rs869206401
|
0.00002
|
NM_203446.3(SYNJ1):c.-73C>G
|
rs772641102
|
0.00002
|
NM_203446.3(SYNJ1):c.1176T>C (p.Ser392=)
|
rs779977140
|
0.00002
|
NM_203446.3(SYNJ1):c.1566G>A (p.Glu522=)
|
rs1314584710
|
0.00002
|
NM_203446.3(SYNJ1):c.1707T>G (p.Ala569=)
|
rs1384171922
|
0.00002
|
NM_203446.3(SYNJ1):c.1959T>G (p.Val653=)
|
rs747138067
|
0.00002
|
NM_203446.3(SYNJ1):c.2025A>G (p.Arg675=)
|
rs987102051
|
0.00002
|
NM_203446.3(SYNJ1):c.2145+13T>C
|
rs779562990
|
0.00002
|
NM_203446.3(SYNJ1):c.2352T>C (p.Tyr784=)
|
rs766117241
|
0.00002
|
NM_203446.3(SYNJ1):c.2373C>T (p.Asp791=)
|
rs374390032
|
0.00002
|
NM_203446.3(SYNJ1):c.2715A>G (p.Pro905=)
|
rs771107718
|
0.00002
|
NM_203446.3(SYNJ1):c.2844C>T (p.Ala948=)
|
rs1432339434
|
0.00002
|
NM_203446.3(SYNJ1):c.2958T>C (p.Ile986=)
|
rs879835661
|
0.00002
|
NM_203446.3(SYNJ1):c.3327G>A (p.Pro1109=)
|
rs1436978655
|
0.00002
|
NM_203446.3(SYNJ1):c.3520C>T (p.Arg1174Cys)
|
rs1367145848
|
0.00002
|
NM_203446.3(SYNJ1):c.3633C>T (p.His1211=)
|
rs771394723
|
0.00002
|
NM_203446.3(SYNJ1):c.3636G>A (p.Ala1212=)
|
rs576444776
|
0.00002
|
NM_203446.3(SYNJ1):c.3693G>A (p.Ser1231=)
|
rs755437097
|
0.00002
|
NM_203446.3(SYNJ1):c.3732G>A (p.Gln1244=)
|
rs765653482
|
0.00002
|
NM_203446.3(SYNJ1):c.3807A>C (p.Ala1269=)
|
rs759164699
|
0.00002
|
NM_203446.3(SYNJ1):c.41A>G (p.Asp14Gly)
|
rs565807712
|
0.00002
|
NM_203446.3(SYNJ1):c.480-18T>G
|
rs1242153000
|
0.00002
|
NM_203446.3(SYNJ1):c.684C>T (p.Ala228=)
|
rs376985894
|
0.00002
|
NM_203446.3(SYNJ1):c.930G>A (p.Met310Ile)
|
rs749045961
|
0.00002
|
NC_000021.9:g.32728032C>T
|
rs1250657533
|
0.00001
|
NM_203446.3(SYNJ1):c.*108A>G
|
rs371381727
|
0.00001
|
NM_203446.3(SYNJ1):c.*120G>A
|
rs377721268
|
0.00001
|
NM_203446.3(SYNJ1):c.*132C>A
|
rs373469623
|
0.00001
|
NM_203446.3(SYNJ1):c.*174G>A
|
rs745464855
|
0.00001
|
NM_203446.3(SYNJ1):c.*187T>C
|
rs748722673
|
0.00001
|
NM_203446.3(SYNJ1):c.*195T>G
|
rs1323976540
|
0.00001
|
NM_203446.3(SYNJ1):c.*21C>A
|
rs756737216
|
0.00001
|
NM_203446.3(SYNJ1):c.*270C>T
|
rs748033451
|
0.00001
|
NM_203446.3(SYNJ1):c.*390G>A
|
rs769253550
|
0.00001
|
NM_203446.3(SYNJ1):c.*393C>T
|
rs140696929
|
0.00001
|
NM_203446.3(SYNJ1):c.*513T>C
|
rs373455294
|
0.00001
|
NM_203446.3(SYNJ1):c.*519C>T
|
rs2039314679
|
0.00001
|
NM_203446.3(SYNJ1):c.*522G>A
|
rs777945782
|
0.00001
|
NM_203446.3(SYNJ1):c.*540C>T
|
rs141012977
|
0.00001
|
NM_203446.3(SYNJ1):c.*665C>G
|
rs150753892
|
0.00001
|
NM_203446.3(SYNJ1):c.*741C>T
|
rs1281984634
|
0.00001
|
NM_203446.3(SYNJ1):c.*75A>G
|
rs756090874
|
0.00001
|
NM_203446.3(SYNJ1):c.*798T>C
|
rs1007414965
|
0.00001
|
NM_203446.3(SYNJ1):c.-19T>A
|
rs1447119337
|
0.00001
|
NM_203446.3(SYNJ1):c.-23+19G>A
|
rs2043549128
|
0.00001
|
NM_203446.3(SYNJ1):c.-23+20G>A
|
rs1022879813
|
0.00001
|
NM_203446.3(SYNJ1):c.-37G>A
|
rs1297512201
|
0.00001
|
NM_203446.3(SYNJ1):c.-61C>T
|
rs932881262
|
0.00001
|
NM_203446.3(SYNJ1):c.1118+7C>T
|
rs752329632
|
0.00001
|
NM_203446.3(SYNJ1):c.1118+9G>A
|
rs1241098561
|
0.00001
|
NM_203446.3(SYNJ1):c.1167A>G (p.Arg389=)
|
rs747274485
|
0.00001
|
NM_203446.3(SYNJ1):c.1281A>G (p.Ser427=)
|
rs1256463338
|
0.00001
|
NM_203446.3(SYNJ1):c.1290C>T (p.Ser430=)
|
rs919941488
|
0.00001
|
NM_203446.3(SYNJ1):c.156A>G (p.Thr52=)
|
rs144728528
|
0.00001
|
NM_203446.3(SYNJ1):c.1641A>G (p.Gln547=)
|
rs753893833
|
0.00001
|
NM_203446.3(SYNJ1):c.1671A>G (p.Thr557=)
|
rs1461901564
|
0.00001
|
NM_203446.3(SYNJ1):c.177A>G (p.Ala59=)
|
rs749212329
|
0.00001
|
NM_203446.3(SYNJ1):c.1824G>A (p.Gln608=)
|
rs371628726
|
0.00001
|
NM_203446.3(SYNJ1):c.1848G>A (p.Gln616=)
|
rs1601348530
|
0.00001
|
NM_203446.3(SYNJ1):c.2146-14C>G
|
rs775638018
|
0.00001
|
NM_203446.3(SYNJ1):c.2202A>C (p.Arg734=)
|
rs924156740
|
0.00001
|
NM_203446.3(SYNJ1):c.2223A>G (p.Glu741=)
|
rs2040867289
|
0.00001
|
NM_203446.3(SYNJ1):c.2295T>C (p.Asn765=)
|
rs142455194
|
0.00001
|
NM_203446.3(SYNJ1):c.2304+9A>G
|
rs1569062470
|
0.00001
|
NM_203446.3(SYNJ1):c.2403C>T (p.Thr801=)
|
rs755696516
|
0.00001
|
NM_203446.3(SYNJ1):c.2795+7T>C
|
rs780616248
|
0.00001
|
NM_203446.3(SYNJ1):c.2860C>T (p.Leu954=)
|
rs374794895
|
0.00001
|
NM_203446.3(SYNJ1):c.2875-20T>C
|
rs187333014
|
0.00001
|
NM_203446.3(SYNJ1):c.2875-4C>A
|
rs1231504349
|
0.00001
|
NM_203446.3(SYNJ1):c.2875-6C>T
|
rs183558612
|
0.00001
|
NM_203446.3(SYNJ1):c.3007G>A (p.Ala1003Thr)
|
rs911362591
|
0.00001
|
NM_203446.3(SYNJ1):c.303T>C (p.Thr101=)
|
rs1445704945
|
0.00001
|
NM_203446.3(SYNJ1):c.3195C>T (p.Pro1065=)
|
rs763564076
|
0.00001
|
NM_203446.3(SYNJ1):c.3270A>G (p.Pro1090=)
|
rs1299635688
|
0.00001
|
NM_203446.3(SYNJ1):c.3273A>C (p.Ala1091=)
|
rs1282370368
|
0.00001
|
NM_203446.3(SYNJ1):c.3324G>A (p.Pro1108=)
|
rs757804939
|
0.00001
|
NM_203446.3(SYNJ1):c.3333C>G (p.Pro1111=)
|
rs372510070
|
0.00001
|
NM_203446.3(SYNJ1):c.3391+15T>A
|
rs754412906
|
0.00001
|
NM_203446.3(SYNJ1):c.3430+12C>T
|
rs1468489631
|
0.00001
|
NM_203446.3(SYNJ1):c.3431-10C>T
|
rs774777679
|
0.00001
|
NM_203446.3(SYNJ1):c.3517+10C>T
|
rs1373208718
|
0.00001
|
NM_203446.3(SYNJ1):c.3518-17T>C
|
rs773319067
|
0.00001
|
NM_203446.3(SYNJ1):c.351A>G (p.Ser117=)
|
rs144142216
|
0.00001
|
NM_203446.3(SYNJ1):c.3588+15G>A
|
rs540863552
|
0.00001
|
NM_203446.3(SYNJ1):c.3635C>T (p.Ala1212Val)
|
rs386352368
|
0.00001
|
NM_203446.3(SYNJ1):c.3639G>A (p.Arg1213=)
|
rs745882722
|
0.00001
|
NM_203446.3(SYNJ1):c.3765G>A (p.Pro1255=)
|
rs781500048
|
0.00001
|
NM_203446.3(SYNJ1):c.3786G>A (p.Glu1262=)
|
rs750931400
|
0.00001
|
NM_203446.3(SYNJ1):c.3840G>A (p.Leu1280=)
|
rs2039703499
|
0.00001
|
NM_203446.3(SYNJ1):c.3915+10A>G
|
rs1167944043
|
0.00001
|
NM_203446.3(SYNJ1):c.480-7C>T
|
rs748707134
|
0.00001
|
NM_203446.3(SYNJ1):c.706-7T>C
|
rs1482528429
|
0.00001
|
NM_203446.3(SYNJ1):c.706-8T>C
|
rs752261171
|
0.00001
|
NM_203446.3(SYNJ1):c.711G>A (p.Val237=)
|
rs780954414
|
0.00001
|
NM_203446.3(SYNJ1):c.747C>T (p.Ile249=)
|
rs766187063
|
0.00001
|
NM_203446.3(SYNJ1):c.790-18A>G
|
rs764219821
|
0.00001
|
NM_203446.3(SYNJ1):c.834T>C (p.Asn278=)
|
rs776217239
|
0.00001
|
NM_203446.3(SYNJ1):c.843T>C (p.Ala281=)
|
rs372016074
|
0.00001
|
NM_203446.3(SYNJ1):c.851+20G>C
|
rs778826127
|
0.00001
|
NM_203446.3(SYNJ1):c.873C>T (p.Asn291=)
|
rs1326451805
|
0.00001
|
NM_203446.3(SYNJ1):c.93C>G (p.Leu31=)
|
rs201322530
|
0.00001
|
NM_203446.3(SYNJ1):c.948+7A>G
|
rs777999783
|
0.00001
|
NM_203446.3(SYNJ1):c.981T>C (p.Asp327=)
|
rs759120326
|
0.00001
|
NC_000021.9:g.32728023G>A
|
|
|
NC_000021.9:g.32728035C>T
|
|
|
NM_203446.3(SYNJ1):c.*117A>G
|
|
|
NM_203446.3(SYNJ1):c.*135C>T
|
|
|
NM_203446.3(SYNJ1):c.*168T>C
|
|
|
NM_203446.3(SYNJ1):c.*189G>A
|
|
|
NM_203446.3(SYNJ1):c.*18A>G
|
|
|
NM_203446.3(SYNJ1):c.*195T>C
|
rs1323976540
|
|
NM_203446.3(SYNJ1):c.*210A>C
|
|
|
NM_203446.3(SYNJ1):c.*234G>A
|
|
|
NM_203446.3(SYNJ1):c.*234G>T
|
rs777299829
|
|
NM_203446.3(SYNJ1):c.*291C>G
|
|
|
NM_203446.3(SYNJ1):c.*303T>G
|
rs2145657976
|
|
NM_203446.3(SYNJ1):c.*321T>C
|
|
|
NM_203446.3(SYNJ1):c.*345C>T
|
|
|
NM_203446.3(SYNJ1):c.*363G>A
|
|
|
NM_203446.3(SYNJ1):c.*387A>G
|
|
|
NM_203446.3(SYNJ1):c.*396T>C
|
rs776168774
|
|
NM_203446.3(SYNJ1):c.*4-10T>C
|
|
|
NM_203446.3(SYNJ1):c.*4-17C>T
|
rs2145660723
|
|
NM_203446.3(SYNJ1):c.*4-18G>A
|
|
|
NM_203446.3(SYNJ1):c.*4-19T>C
|
|
|
NM_203446.3(SYNJ1):c.*453A>G
|
|
|
NM_203446.3(SYNJ1):c.*459A>G
|
rs2039318354
|
|
NM_203446.3(SYNJ1):c.*474G>A
|
rs767728958
|
|
NM_203446.3(SYNJ1):c.*576A>G
|
|
|
NM_203446.3(SYNJ1):c.*60A>C
|
rs1020861731
|
|
NM_203446.3(SYNJ1):c.*60A>G
|
rs1020861731
|
|
NM_203446.3(SYNJ1):c.*633C>T
|
rs2145655621
|
|
NM_203446.3(SYNJ1):c.*634C>T
|
|
|
NM_203446.3(SYNJ1):c.*639A>G
|
|
|
NM_203446.3(SYNJ1):c.*669T>C
|
|
|
NM_203446.3(SYNJ1):c.*677_*679del
|
rs528030561
|
|
NM_203446.3(SYNJ1):c.*681T>C
|
|
|
NM_203446.3(SYNJ1):c.*684G>A
|
|
|
NM_203446.3(SYNJ1):c.*690G>T
|
|
|
NM_203446.3(SYNJ1):c.*750A>G
|
|
|
NM_203446.3(SYNJ1):c.*753T>C
|
rs2145654435
|
|
NM_203446.3(SYNJ1):c.*762G>C
|
|
|
NM_203446.3(SYNJ1):c.*783A>G
|
|
|
NM_203446.3(SYNJ1):c.*801A>G
|
|
|
NM_203446.3(SYNJ1):c.-22-19C>G
|
|
|
NM_203446.3(SYNJ1):c.-22-4G>A
|
rs771283717
|
|
NM_203446.3(SYNJ1):c.-22-4G>T
|
|
|
NM_203446.3(SYNJ1):c.-22-5C>T
|
|
|
NM_203446.3(SYNJ1):c.-23+11C>A
|
|
|
NM_203446.3(SYNJ1):c.-23+12_-23+13dup
|
|
|
NM_203446.3(SYNJ1):c.-23+16G>A
|
|
|
NM_203446.3(SYNJ1):c.-23+16G>C
|
rs905741954
|
|
NM_203446.3(SYNJ1):c.-23+16G>T
|
|
|
NM_203446.3(SYNJ1):c.-23+8A>G
|
|
|
NM_203446.3(SYNJ1):c.-25G>A
|
rs2146446925
|
|
NM_203446.3(SYNJ1):c.-40G>A
|
|
|
NM_203446.3(SYNJ1):c.-4G>A
|
|
|
NM_203446.3(SYNJ1):c.-51A>C
|
rs1394751497
|
|
NM_203446.3(SYNJ1):c.-58C>T
|
|
|
NM_203446.3(SYNJ1):c.-61C>A
|
rs932881262
|
|
NM_203446.3(SYNJ1):c.-64C>A
|
rs869206401
|
|
NM_203446.3(SYNJ1):c.-64C>G
|
rs869206401
|
|
NM_203446.3(SYNJ1):c.-70C>T
|
|
|
NM_203446.3(SYNJ1):c.-73C>A
|
|
|
NM_203446.3(SYNJ1):c.-76C>A
|
|
|
NM_203446.3(SYNJ1):c.-79T>G
|
|
|
NM_203446.3(SYNJ1):c.1017T>C (p.Val339=)
|
rs2146090232
|
|
NM_203446.3(SYNJ1):c.102G>A (p.Glu34=)
|
|
|
NM_203446.3(SYNJ1):c.1047T>C (p.Ser349=)
|
rs2041819587
|
|
NM_203446.3(SYNJ1):c.1101T>C (p.Asn367=)
|
|
|
NM_203446.3(SYNJ1):c.1116A>G (p.Gln372=)
|
|
|
NM_203446.3(SYNJ1):c.1118+11T>G
|
|
|
NM_203446.3(SYNJ1):c.1118+14G>A
|
|
|
NM_203446.3(SYNJ1):c.1150T>C (p.Leu384=)
|
rs1382405019
|
|
NM_203446.3(SYNJ1):c.1179G>T (p.Val393=)
|
rs1179626154
|
|
NM_203446.3(SYNJ1):c.1200+19A>G
|
|
|
NM_203446.3(SYNJ1):c.1201-16_1201-15del
|
rs2041629073
|
|
NM_203446.3(SYNJ1):c.1201-17C>A
|
|
|
NM_203446.3(SYNJ1):c.1201-8T>G
|
|
|
NM_203446.3(SYNJ1):c.1227T>C (p.Leu409=)
|
|
|
NM_203446.3(SYNJ1):c.124+12G>T
|
|
|
NM_203446.3(SYNJ1):c.124+19C>G
|
|
|
NM_203446.3(SYNJ1):c.124+19C>T
|
|
|
NM_203446.3(SYNJ1):c.124+20C>T
|
rs2043472963
|
|
NM_203446.3(SYNJ1):c.1249T>C (p.Leu417=)
|
|
|
NM_203446.3(SYNJ1):c.1269A>G (p.Glu423=)
|
|
|
NM_203446.3(SYNJ1):c.126A>G (p.Ser42=)
|
rs1286622528
|
|
NM_203446.3(SYNJ1):c.126A>T (p.Ser42=)
|
rs1286622528
|
|
NM_203446.3(SYNJ1):c.1311T>C (p.Ser437=)
|
rs969673470
|
|
NM_203446.3(SYNJ1):c.1323A>G (p.Ala441=)
|
rs1468223961
|
|
NM_203446.3(SYNJ1):c.1335T>C (p.Ala445=)
|
rs964382126
|
|
NM_203446.3(SYNJ1):c.1350G>A (p.Ala450=)
|
|
|
NM_203446.3(SYNJ1):c.1353+15A>C
|
rs372526476
|
|
NM_203446.3(SYNJ1):c.1353+15A>G
|
|
|
NM_203446.3(SYNJ1):c.1353+20A>G
|
|
|
NM_203446.3(SYNJ1):c.1353+7C>T
|
|
|
NM_203446.3(SYNJ1):c.1389T>A (p.Ile463=)
|
|
|
NM_203446.3(SYNJ1):c.1404T>C (p.Phe468=)
|
rs2146025354
|
|
NM_203446.3(SYNJ1):c.1425C>G (p.Ala475=)
|
|
|
NM_203446.3(SYNJ1):c.150G>A (p.Lys50=)
|
rs2042422021
|
|
NM_203446.3(SYNJ1):c.1510+14A>G
|
|
|
NM_203446.3(SYNJ1):c.1511-16_1511-14del
|
|
|
NM_203446.3(SYNJ1):c.1534+9T>C
|
rs754756374
|
|
NM_203446.3(SYNJ1):c.1535-18G>A
|
rs1170021366
|
|
NM_203446.3(SYNJ1):c.1605A>G (p.Val535=)
|
|
|
NM_203446.3(SYNJ1):c.1611C>G (p.Val537=)
|
rs150180190
|
|
NM_203446.3(SYNJ1):c.1617C>A (p.Thr539=)
|
rs2145981618
|
|
NM_203446.3(SYNJ1):c.162C>T (p.Ser54=)
|
rs745320827
|
|
NM_203446.3(SYNJ1):c.1659T>C (p.Phe553=)
|
rs1374033047
|
|
NM_203446.3(SYNJ1):c.1698C>A (p.Pro566=)
|
|
|
NM_203446.3(SYNJ1):c.1719G>A (p.Glu573=)
|
rs2041277581
|
|
NM_203446.3(SYNJ1):c.1726+10_1726+11insA
|
rs2145980880
|
|
NM_203446.3(SYNJ1):c.1727-11C>T
|
|
|
NM_203446.3(SYNJ1):c.1727-19C>T
|
|
|
NM_203446.3(SYNJ1):c.1728T>C (p.Asp576=)
|
rs761358064
|
|
NM_203446.3(SYNJ1):c.1797C>T (p.Asn599=)
|
|
|
NM_203446.3(SYNJ1):c.1800T>C (p.Ile600=)
|
rs1449222569
|
|
NM_203446.3(SYNJ1):c.1811+12A>G
|
|
|
NM_203446.3(SYNJ1):c.1811+8A>G
|
rs900904083
|
|
NM_203446.3(SYNJ1):c.1811+8_1811+9insCTT
|
rs1780660901
|
|
NM_203446.3(SYNJ1):c.1811+9G>A
|
rs772164147
|
|
NM_203446.3(SYNJ1):c.1812-10T>A
|
rs2040942245
|
|
NM_203446.3(SYNJ1):c.1812-16T>G
|
rs1165805994
|
|
NM_203446.3(SYNJ1):c.1842A>G (p.Glu614=)
|
|
|
NM_203446.3(SYNJ1):c.1845T>A (p.Leu615=)
|
|
|
NM_203446.3(SYNJ1):c.1851G>A (p.Lys617=)
|
rs2145927066
|
|
NM_203446.3(SYNJ1):c.1854A>G (p.Thr618=)
|
|
|
NM_203446.3(SYNJ1):c.186C>T (p.Leu62=)
|
|
|
NM_203446.3(SYNJ1):c.1878G>A (p.Val626=)
|
rs1601348321
|
|
NM_203446.3(SYNJ1):c.1929A>G (p.Arg643=)
|
rs2145926496
|
|
NM_203446.3(SYNJ1):c.1950C>A (p.Ile650=)
|
|
|
NM_203446.3(SYNJ1):c.1952+17C>T
|
|
|
NM_203446.3(SYNJ1):c.1952+19C>T
|
rs2145926225
|
|
NM_203446.3(SYNJ1):c.1953-16A>C
|
|
|
NM_203446.3(SYNJ1):c.1953-9G>T
|
|
|
NM_203446.3(SYNJ1):c.2037T>C (p.His679=)
|
rs2145923461
|
|
NM_203446.3(SYNJ1):c.2043C>G (p.Thr681=)
|
rs780909870
|
|
NM_203446.3(SYNJ1):c.2055C>T (p.Phe685=)
|
rs765857459
|
|
NM_203446.3(SYNJ1):c.2076A>T (p.Ala692=)
|
rs1411849491
|
|
NM_203446.3(SYNJ1):c.2079G>A (p.Gly693=)
|
rs2145923177
|
|
NM_203446.3(SYNJ1):c.2091C>G (p.Val697=)
|
|
|
NM_203446.3(SYNJ1):c.2091C>T (p.Val697=)
|
|
|
NM_203446.3(SYNJ1):c.2106A>G (p.Glu702=)
|
|
|
NM_203446.3(SYNJ1):c.211+11C>T
|
|
|
NM_203446.3(SYNJ1):c.212-13T>C
|
|
|
NM_203446.3(SYNJ1):c.212-15C>A
|
|
|
NM_203446.3(SYNJ1):c.2131T>C (p.Leu711=)
|
|
|
NM_203446.3(SYNJ1):c.2145+14G>A
|
|
|
NM_203446.3(SYNJ1):c.2145+18G>A
|
|
|
NM_203446.3(SYNJ1):c.2145+8C>A
|
|
|
NM_203446.3(SYNJ1):c.2145+8C>G
|
|
|
NM_203446.3(SYNJ1):c.2146-12C>G
|
|
|
NM_203446.3(SYNJ1):c.2169C>T (p.Asp723=)
|
|
|
NM_203446.3(SYNJ1):c.2196C>T (p.Asn732=)
|
|
|
NM_203446.3(SYNJ1):c.219T>A (p.Thr73=)
|
|
|
NM_203446.3(SYNJ1):c.219T>C (p.Thr73=)
|
|
|
NM_203446.3(SYNJ1):c.2211C>G (p.Leu737=)
|
|
|
NM_203446.3(SYNJ1):c.2211C>T (p.Leu737=)
|
|
|
NM_203446.3(SYNJ1):c.2277A>G (p.Gln759=)
|
|
|
NM_203446.3(SYNJ1):c.2298T>C (p.Ala766=)
|
|
|
NM_203446.3(SYNJ1):c.2304+15G>C
|
|
|
NM_203446.3(SYNJ1):c.2304+17_2304+20del
|
|
|
NM_203446.3(SYNJ1):c.2305-15A>G
|
|
|
NM_203446.3(SYNJ1):c.2305-17G>C
|
|
|
NM_203446.3(SYNJ1):c.231T>C (p.Tyr77=)
|
|
|
NM_203446.3(SYNJ1):c.2337C>G (p.Thr779=)
|
rs367656251
|
|
NM_203446.3(SYNJ1):c.2385C>G (p.Thr795=)
|
|
|
NM_203446.3(SYNJ1):c.2400C>T (p.Arg800=)
|
rs1429532362
|
|
NM_203446.3(SYNJ1):c.2406T>C (p.Pro802=)
|
|
|
NM_203446.3(SYNJ1):c.2421T>C (p.Arg807=)
|
|
|
NM_203446.3(SYNJ1):c.2462-19T>C
|
rs2145854148
|
|
NM_203446.3(SYNJ1):c.2462-5T>C
|
|
|
NM_203446.3(SYNJ1):c.2462-6C>A
|
rs1601309850
|
|
NM_203446.3(SYNJ1):c.2472A>C (p.Leu824=)
|
rs1601309726
|
|
NM_203446.3(SYNJ1):c.249A>T (p.Gly83=)
|
|
|
NM_203446.3(SYNJ1):c.24G>T (p.Arg8=)
|
rs2146433761
|
|
NM_203446.3(SYNJ1):c.2514G>C (p.Leu838=)
|
rs1367273913
|
|
NM_203446.3(SYNJ1):c.2529A>C (p.Pro843=)
|
|
|
NM_203446.3(SYNJ1):c.2541_2542delinsTT (p.His848Tyr)
|
rs1601309236
|
|
NM_203446.3(SYNJ1):c.2547T>C (p.Tyr849=)
|
rs61756207
|
|
NM_203446.3(SYNJ1):c.2579+14C>G
|
|
|
NM_203446.3(SYNJ1):c.2579+14_2579+15del
|
rs2040484641
|
|
NM_203446.3(SYNJ1):c.2580-14C>T
|
rs2145852326
|
|
NM_203446.3(SYNJ1):c.2580-20A>C
|
|
|
NM_203446.3(SYNJ1):c.2580-7C>T
|
rs2040478967
|
|
NM_203446.3(SYNJ1):c.2580-9T>C
|
rs1601308461
|
|
NM_203446.3(SYNJ1):c.2586C>G (p.Val862=)
|
|
|
NM_203446.3(SYNJ1):c.258T>C (p.Ser86=)
|
|
|
NM_203446.3(SYNJ1):c.258T>G (p.Ser86=)
|
|
|
NM_203446.3(SYNJ1):c.2607T>C (p.Asp869=)
|
rs2145851928
|
|
NM_203446.3(SYNJ1):c.2658T>C (p.Ile886=)
|
|
|
NM_203446.3(SYNJ1):c.2685A>T (p.Thr895=)
|
rs939655575
|
|
NM_203446.3(SYNJ1):c.2733T>C (p.Asp911=)
|
|
|
NM_203446.3(SYNJ1):c.2736T>C (p.Asp912=)
|
|
|
NM_203446.3(SYNJ1):c.2757G>T (p.Leu919=)
|
rs2145850907
|
|
NM_203446.3(SYNJ1):c.2766T>C (p.Phe922=)
|
rs1479701930
|
|
NM_203446.3(SYNJ1):c.2781A>G (p.Glu927=)
|
rs1350091132
|
|
NM_203446.3(SYNJ1):c.2795+16T>C
|
|
|
NM_203446.3(SYNJ1):c.2795+20A>G
|
|
|
NM_203446.3(SYNJ1):c.2802A>G (p.Val934=)
|
rs1250410568
|
|
NM_203446.3(SYNJ1):c.2875-15_2875-14del
|
|
|
NM_203446.3(SYNJ1):c.2875-17C>G
|
|
|
NM_203446.3(SYNJ1):c.2877A>G (p.Leu959=)
|
|
|
NM_203446.3(SYNJ1):c.297T>C (p.Thr99=)
|
|
|
NM_203446.3(SYNJ1):c.2991C>T (p.Thr997=)
|
|
|
NM_203446.3(SYNJ1):c.2994G>A (p.Leu998=)
|
rs2145809247
|
|
NM_203446.3(SYNJ1):c.300C>T (p.Ser100=)
|
|
|
NM_203446.3(SYNJ1):c.3015T>C (p.Val1005=)
|
rs2145809068
|
|
NM_203446.3(SYNJ1):c.3018A>G (p.Ala1006=)
|
|
|
NM_203446.3(SYNJ1):c.3038-12G>A
|
|
|
NM_203446.3(SYNJ1):c.3054T>C (p.Tyr1018=)
|
|
|
NM_203446.3(SYNJ1):c.3060T>A (p.Ala1020=)
|
|
|
NM_203446.3(SYNJ1):c.319C>A (p.Arg107=)
|
|
|
NM_203446.3(SYNJ1):c.3216G>A (p.Pro1072=)
|
|
|
NM_203446.3(SYNJ1):c.3237C>G (p.Pro1079=)
|
|
|
NM_203446.3(SYNJ1):c.3237C>T (p.Pro1079=)
|
|
|
NM_203446.3(SYNJ1):c.3248-12T>C
|
|
|
NM_203446.3(SYNJ1):c.3248-15C>A
|
|
|
NM_203446.3(SYNJ1):c.3248-16_3248-14del
|
|
|
NM_203446.3(SYNJ1):c.3248-19C>T
|
rs2145777077
|
|
NM_203446.3(SYNJ1):c.3248-21_3248-19del
|
|
|
NM_203446.3(SYNJ1):c.3248-4T>C
|
|
|
NM_203446.3(SYNJ1):c.3248-6T>C
|
|
|
NM_203446.3(SYNJ1):c.3248-6T>G
|
rs567223330
|
|
NM_203446.3(SYNJ1):c.3248-9G>A
|
|
|
NM_203446.3(SYNJ1):c.3252T>G (p.Ser1084=)
|
|
|
NM_203446.3(SYNJ1):c.3270A>C (p.Pro1090=)
|
|
|
NM_203446.3(SYNJ1):c.3273A>G (p.Ala1091=)
|
|
|
NM_203446.3(SYNJ1):c.3285G>A (p.Pro1095=)
|
rs376395608
|
|
NM_203446.3(SYNJ1):c.3285G>T (p.Pro1095=)
|
rs376395608
|
|
NM_203446.3(SYNJ1):c.3303G>A (p.Gln1101=)
|
|
|
NM_203446.3(SYNJ1):c.3357C>T (p.Arg1119=)
|
rs1601259728
|
|
NM_203446.3(SYNJ1):c.3360G>A (p.Pro1120=)
|
|
|
NM_203446.3(SYNJ1):c.3363T>C (p.Ala1121=)
|
|
|
NM_203446.3(SYNJ1):c.3369A>C (p.Pro1123=)
|
rs368850131
|
|
NM_203446.3(SYNJ1):c.3391+8C>T
|
rs779010105
|
|
NM_203446.3(SYNJ1):c.3392-10G>C
|
rs2145769480
|
|
NM_203446.3(SYNJ1):c.3392-12A>G
|
|
|
NM_203446.3(SYNJ1):c.3392-13T>C
|
|
|
NM_203446.3(SYNJ1):c.3392-4T>C
|
|
|
NM_203446.3(SYNJ1):c.3392-5A>T
|
rs776721216
|
|
NM_203446.3(SYNJ1):c.3393G>A (p.Gly1131=)
|
rs1057304410
|
|
NM_203446.3(SYNJ1):c.3396T>C (p.Ala1132=)
|
rs1220663745
|
|
NM_203446.3(SYNJ1):c.3411C>T (p.Pro1137=)
|
rs1162976890
|
|
NM_203446.3(SYNJ1):c.3431-11del
|
|
|
NM_203446.3(SYNJ1):c.3431-6A>G
|
rs1017765033
|
|
NM_203446.3(SYNJ1):c.3456G>C (p.Gly1152=)
|
rs2145756410
|
|
NM_203446.3(SYNJ1):c.3459A>G (p.Val1153=)
|
|
|
NM_203446.3(SYNJ1):c.345C>T (p.Arg115=)
|
|
|
NM_203446.3(SYNJ1):c.3478+12C>T
|
rs2145756030
|
|
NM_203446.3(SYNJ1):c.3478+13T>C
|
|
|
NM_203446.3(SYNJ1):c.3478+16C>G
|
|
|
NM_203446.3(SYNJ1):c.3478+17A>G
|
|
|
NM_203446.3(SYNJ1):c.3478+9A>T
|
|
|
NM_203446.3(SYNJ1):c.3479-14T>C
|
rs2039869790
|
|
NM_203446.3(SYNJ1):c.3479-18T>C
|
|
|
NM_203446.3(SYNJ1):c.3489C>T (p.Ser1163=)
|
rs2039868331
|
|
NM_203446.3(SYNJ1):c.3507A>G (p.Lys1169=)
|
|
|
NM_203446.3(SYNJ1):c.3517+7A>G
|
rs2145744971
|
|
NM_203446.3(SYNJ1):c.3518-18A>G
|
|
|
NM_203446.3(SYNJ1):c.3518-20A>G
|
|
|
NM_203446.3(SYNJ1):c.3518-9T>C
|
rs2039859473
|
|
NM_203446.3(SYNJ1):c.3558A>T (p.Pro1186=)
|
rs755614050
|
|
NM_203446.3(SYNJ1):c.3585A>G (p.Arg1195=)
|
rs1404447301
|
|
NM_203446.3(SYNJ1):c.3588+15G>C
|
|
|
NM_203446.3(SYNJ1):c.3588+7A>G
|
rs990106590
|
|
NM_203446.3(SYNJ1):c.3589-16T>C
|
rs369384628
|
|
NM_203446.3(SYNJ1):c.3589-16T>G
|
rs369384628
|
|
NM_203446.3(SYNJ1):c.3589-17dup
|
|
|
NM_203446.3(SYNJ1):c.3589-4G>A
|
|
|
NM_203446.3(SYNJ1):c.3589-8A>T
|
rs2145726735
|
|
NM_203446.3(SYNJ1):c.3657G>A (p.Leu1219=)
|
|
|
NM_203446.3(SYNJ1):c.3663T>G (p.Pro1221=)
|
|
|
NM_203446.3(SYNJ1):c.3690G>A (p.Thr1230=)
|
rs1446522492
|
|
NM_203446.3(SYNJ1):c.3697+15G>A
|
|
|
NM_203446.3(SYNJ1):c.3697+8C>T
|
rs2145725329
|
|
NM_203446.3(SYNJ1):c.3698-12C>T
|
|
|
NM_203446.3(SYNJ1):c.3698-13A>G
|
|
|
NM_203446.3(SYNJ1):c.3698-15C>T
|
|
|
NM_203446.3(SYNJ1):c.3698-19A>G
|
|
|
NM_203446.3(SYNJ1):c.3714T>G (p.Pro1238=)
|
rs2145720898
|
|
NM_203446.3(SYNJ1):c.3721C>A (p.Leu1241Met)
|
rs2230766
|
|
NM_203446.3(SYNJ1):c.3747G>A (p.Pro1249=)
|
rs138579227
|
|
NM_203446.3(SYNJ1):c.3747G>C (p.Pro1249=)
|
|
|
NM_203446.3(SYNJ1):c.3747G>T (p.Pro1249=)
|
rs138579227
|
|
NM_203446.3(SYNJ1):c.3756T>C (p.Ser1252=)
|
|
|
NM_203446.3(SYNJ1):c.3783A>G (p.Gln1261=)
|
rs1601231568
|
|
NM_203446.3(SYNJ1):c.3846C>G (p.Thr1282=)
|
|
|
NM_203446.3(SYNJ1):c.3879C>G (p.Ser1293=)
|
rs1601230798
|
|
NM_203446.3(SYNJ1):c.387T>C (p.Tyr129=)
|
rs2042340576
|
|
NM_203446.3(SYNJ1):c.3912G>A (p.Pro1304=)
|
rs372695378
|
|
NM_203446.3(SYNJ1):c.3912G>T (p.Pro1304=)
|
rs372695378
|
|
NM_203446.3(SYNJ1):c.3915+18C>A
|
|
|
NM_203446.3(SYNJ1):c.3915+20C>G
|
|
|
NM_203446.3(SYNJ1):c.3915+20C>T
|
|
|
NM_203446.3(SYNJ1):c.3915+7C>G
|
rs2145719045
|
|
NM_203446.3(SYNJ1):c.393A>G (p.Ala131=)
|
|
|
NM_203446.3(SYNJ1):c.429T>C (p.Leu143=)
|
rs2146212579
|
|
NM_203446.3(SYNJ1):c.435G>T (p.Ala145=)
|
rs151248057
|
|
NM_203446.3(SYNJ1):c.450A>G (p.Gln150=)
|
|
|
NM_203446.3(SYNJ1):c.453A>G (p.Glu151=)
|
|
|
NM_203446.3(SYNJ1):c.479+13T>A
|
rs1684291610
|
|
NM_203446.3(SYNJ1):c.479+17C>T
|
|
|
NM_203446.3(SYNJ1):c.480-18T>A
|
|
|
NM_203446.3(SYNJ1):c.480-5A>G
|
rs1001176616
|
|
NM_203446.3(SYNJ1):c.516C>T (p.Gly172=)
|
|
|
NM_203446.3(SYNJ1):c.537A>G (p.Leu179=)
|
rs2146174688
|
|
NM_203446.3(SYNJ1):c.540A>G (p.Leu180=)
|
|
|
NM_203446.3(SYNJ1):c.552T>C (p.Cys184=)
|
|
|
NM_203446.3(SYNJ1):c.561A>G (p.Val187=)
|
|
|
NM_203446.3(SYNJ1):c.576T>A (p.Ile192=)
|
|
|
NM_203446.3(SYNJ1):c.609C>T (p.Leu203=)
|
|
|
NM_203446.3(SYNJ1):c.63A>T (p.Ile21=)
|
|
|
NM_203446.3(SYNJ1):c.654C>G (p.Val218=)
|
|
|
NM_203446.3(SYNJ1):c.702A>G (p.Glu234=)
|
|
|
NM_203446.3(SYNJ1):c.705+8T>C
|
|
|
NM_203446.3(SYNJ1):c.705+9A>G
|
rs2042154034
|
|
NM_203446.3(SYNJ1):c.706-13T>A
|
|
|
NM_203446.3(SYNJ1):c.706-15T>C
|
|
|
NM_203446.3(SYNJ1):c.706-16del
|
|
|
NM_203446.3(SYNJ1):c.750A>G (p.Arg250=)
|
|
|
NM_203446.3(SYNJ1):c.759T>G (p.Val253=)
|
rs111290161
|
|
NM_203446.3(SYNJ1):c.762A>G (p.Pro254=)
|
rs2146165828
|
|
NM_203446.3(SYNJ1):c.783G>A (p.Gly261=)
|
|
|
NM_203446.3(SYNJ1):c.789+10T>C
|
rs1601446146
|
|
NM_203446.3(SYNJ1):c.789+20T>C
|
|
|
NM_203446.3(SYNJ1):c.789+8_789+11del
|
rs751922511
|
|
NM_203446.3(SYNJ1):c.790-14T>G
|
|
|
NM_203446.3(SYNJ1):c.807C>G (p.Val269=)
|
|
|
NM_203446.3(SYNJ1):c.851+10T>C
|
rs745840084
|
|
NM_203446.3(SYNJ1):c.851+15A>G
|
|
|
NM_203446.3(SYNJ1):c.851G>A (p.Arg284Lys)
|
rs565013600
|
|
NM_203446.3(SYNJ1):c.852-10_852-7del
|
rs764989740
|
|
NM_203446.3(SYNJ1):c.852-16T>C
|
|
|
NM_203446.3(SYNJ1):c.852-20T>C
|
rs1436283724
|
|
NM_203446.3(SYNJ1):c.864A>G (p.Thr288=)
|
|
|
NM_203446.3(SYNJ1):c.876A>G (p.Leu292=)
|
|
|
NM_203446.3(SYNJ1):c.883A>C (p.Lys295Gln)
|
rs554456240
|
|
NM_203446.3(SYNJ1):c.918A>G (p.Glu306=)
|
|
|
NM_203446.3(SYNJ1):c.942T>G (p.Ala314=)
|
|
|
NM_203446.3(SYNJ1):c.949-15C>T
|
rs371013716
|
|
NM_203446.3(SYNJ1):c.949-31_949-2del
|
rs1281313151
|
|
NM_203446.3(SYNJ1):c.949-7C>T
|
|
|
NM_203446.3(SYNJ1):c.969A>G (p.Glu323=)
|
rs1601418926
|
|