NM_012431.3(SEMA3E):c.1143+41A>G
|
rs2709930
|
0.97100
|
NM_012431.3(SEMA3E):c.550+40G>A
|
rs2713145
|
0.52350
|
NM_012431.3(SEMA3E):c.998+12A>T
|
rs2245441
|
0.51207
|
NM_012431.3(SEMA3E):c.603G>T (p.Ala201=)
|
rs2722985
|
0.49353
|
NM_012431.3(SEMA3E):c.671-47A>T
|
rs2709941
|
0.49328
|
NM_012431.3(SEMA3E):c.276+3966C>G
|
rs2255715
|
0.45623
|
NM_012431.3(SEMA3E):c.1272G>A (p.Leu424=)
|
rs2722974
|
0.35335
|
NM_012431.3(SEMA3E):c.337-38T>C
|
rs7806439
|
0.34425
|
NM_012431.3(SEMA3E):c.623G>C (p.Arg208Pro)
|
rs61729612
|
0.11028
|
NM_012431.3(SEMA3E):c.2211A>G (p.Arg737=)
|
rs2371545
|
0.07602
|
NM_012431.3(SEMA3E):c.1566T>C (p.Tyr522=)
|
rs61636768
|
0.03837
|
NM_012431.3(SEMA3E):c.2149A>G (p.Ile717Val)
|
rs61729610
|
0.02589
|
NM_012431.3(SEMA3E):c.900T>C (p.Asn300=)
|
rs28505908
|
0.01156
|
NM_012431.3(SEMA3E):c.1722A>T (p.Gly574=)
|
rs61729608
|
0.00518
|
NM_012431.3(SEMA3E):c.2283C>T (p.Ser761=)
|
rs80079143
|
0.00465
|
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile)
|
rs142204796
|
0.00396
|
NM_012431.3(SEMA3E):c.951C>G (p.Thr317=)
|
rs201663991
|
0.00080
|
NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu)
|
rs192697566
|
0.00069
|
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=)
|
rs186628513
|
0.00056
|
NM_012431.3(SEMA3E):c.1174G>A (p.Gly392Arg)
|
rs181129823
|
0.00035
|
NM_012431.3(SEMA3E):c.15G>A (p.Gly5=)
|
rs140094033
|
0.00035
|
NM_012431.3(SEMA3E):c.2048A>G (p.Asn683Ser)
|
rs144370841
|
0.00029
|
NM_012431.3(SEMA3E):c.999-12T>C
|
rs373951907
|
0.00029
|
NM_012431.3(SEMA3E):c.1522G>A (p.Ala508Thr)
|
rs758060734
|
0.00024
|
NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=)
|
rs757610572
|
0.00016
|
NM_012431.3(SEMA3E):c.1732G>A (p.Val578Ile)
|
rs200779956
|
0.00016
|
NM_012431.3(SEMA3E):c.1855C>T (p.Arg619Cys)
|
rs143631464
|
0.00015
|
NM_012431.3(SEMA3E):c.1348G>A (p.Val450Ile)
|
rs190791287
|
0.00014
|
NM_012431.3(SEMA3E):c.1892G>A (p.Arg631Lys)
|
rs553630404
|
0.00014
|
NM_012431.3(SEMA3E):c.155C>G (p.Pro52Arg)
|
rs370543242
|
0.00013
|
NM_012431.3(SEMA3E):c.1668-16A>G
|
rs371322188
|
0.00013
|
NM_012431.3(SEMA3E):c.1738G>A (p.Asp580Asn)
|
rs201699077
|
0.00011
|
NM_012431.3(SEMA3E):c.1739A>G (p.Asp580Gly)
|
rs754158945
|
0.00010
|
NM_012431.3(SEMA3E):c.2152G>A (p.Gly718Ser)
|
rs148649507
|
0.00010
|
NM_012431.3(SEMA3E):c.1366+11G>A
|
rs369202554
|
0.00009
|
NM_012431.3(SEMA3E):c.511C>T (p.Pro171Ser)
|
rs145249878
|
0.00009
|
NM_012431.3(SEMA3E):c.651C>T (p.Asp217=)
|
rs766680673
|
0.00009
|
NM_012431.3(SEMA3E):c.1290A>T (p.Lys430Asn)
|
rs61729605
|
0.00008
|
NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn)
|
rs768818178
|
0.00008
|
NM_012431.3(SEMA3E):c.615C>T (p.Ser205=)
|
rs758229846
|
0.00008
|
NM_012431.3(SEMA3E):c.671-10G>A
|
rs372840645
|
0.00007
|
NM_012431.3(SEMA3E):c.1076A>G (p.His359Arg)
|
rs373965521
|
0.00006
|
NM_012431.3(SEMA3E):c.1366+10C>T
|
rs144608744
|
0.00006
|
NM_012431.3(SEMA3E):c.1498C>A (p.Arg500=)
|
rs111300014
|
0.00006
|
NM_012431.3(SEMA3E):c.1856G>A (p.Arg619His)
|
rs140160399
|
0.00006
|
NM_012431.3(SEMA3E):c.264C>T (p.Asp88=)
|
rs142305186
|
0.00006
|
NM_012431.3(SEMA3E):c.479C>T (p.Ser160Leu)
|
rs142392597
|
0.00006
|
NM_012431.3(SEMA3E):c.999-16T>C
|
rs376833826
|
0.00006
|
NM_012431.3(SEMA3E):c.167T>C (p.Leu56Pro)
|
rs375067711
|
0.00005
|
NM_012431.3(SEMA3E):c.196T>C (p.Tyr66His)
|
rs558904762
|
0.00005
|
NM_012431.3(SEMA3E):c.814-11G>T
|
rs781715218
|
0.00005
|
NM_012431.3(SEMA3E):c.949A>T (p.Thr317Ser)
|
rs752718717
|
0.00005
|
NM_012431.3(SEMA3E):c.998+10T>C
|
rs769133097
|
0.00005
|
NM_012431.3(SEMA3E):c.1017T>A (p.His339Gln)
|
rs746431820
|
0.00004
|
NM_012431.3(SEMA3E):c.1043G>A (p.Ser348Asn)
|
rs1293541067
|
0.00004
|
NM_012431.3(SEMA3E):c.1048C>T (p.Arg350Trp)
|
rs546414937
|
0.00004
|
NM_012431.3(SEMA3E):c.1081G>A (p.Glu361Lys)
|
rs754754690
|
0.00004
|
NM_012431.3(SEMA3E):c.1147G>T (p.Ala383Ser)
|
rs373711827
|
0.00004
|
NM_012431.3(SEMA3E):c.1173C>T (p.Tyr391=)
|
rs370540865
|
0.00004
|
NM_012431.3(SEMA3E):c.1239G>A (p.Gln413=)
|
rs776317078
|
0.00004
|
NM_012431.3(SEMA3E):c.1500G>T (p.Arg500=)
|
rs767115234
|
0.00004
|
NM_012431.3(SEMA3E):c.1637G>A (p.Arg546Gln)
|
rs769248913
|
0.00004
|
NM_012431.3(SEMA3E):c.1827G>A (p.Ala609=)
|
rs756346342
|
0.00004
|
NM_012431.3(SEMA3E):c.186G>T (p.Leu62=)
|
rs148264760
|
0.00004
|
NM_012431.3(SEMA3E):c.1909C>G (p.Leu637Val)
|
rs771976054
|
0.00004
|
NM_012431.3(SEMA3E):c.213C>T (p.Phe71=)
|
rs146189665
|
0.00004
|
NM_012431.3(SEMA3E):c.2279G>A (p.Arg760His)
|
rs143423970
|
0.00004
|
NM_012431.3(SEMA3E):c.322A>C (p.Lys108Gln)
|
rs201465097
|
0.00004
|
NM_012431.3(SEMA3E):c.355G>C (p.Val119Leu)
|
rs145267516
|
0.00004
|
NM_012431.3(SEMA3E):c.5C>G (p.Ala2Gly)
|
rs763295904
|
0.00004
|
NM_012431.3(SEMA3E):c.814-10G>T
|
rs1053672541
|
0.00004
|
NM_012431.3(SEMA3E):c.1667+7C>T
|
rs757094477
|
0.00003
|
NM_012431.3(SEMA3E):c.1944T>C (p.Asp648=)
|
rs199840463
|
0.00003
|
NM_012431.3(SEMA3E):c.2054A>G (p.Asp685Gly)
|
rs747326285
|
0.00003
|
NM_012431.3(SEMA3E):c.2108C>T (p.Ser703Leu)
|
rs121918341
|
0.00003
|
NM_012431.3(SEMA3E):c.2316G>A (p.Thr772=)
|
rs753767962
|
0.00003
|
NM_012431.3(SEMA3E):c.339T>C (p.Gly113=)
|
rs564120268
|
0.00003
|
NM_012431.3(SEMA3E):c.359G>A (p.Arg120Gln)
|
rs781381659
|
0.00003
|
NM_012431.3(SEMA3E):c.551-6G>A
|
rs535143722
|
0.00003
|
NM_012431.3(SEMA3E):c.754G>T (p.Ala252Ser)
|
rs779163443
|
0.00003
|
NM_012431.3(SEMA3E):c.94C>T (p.Arg32Trp)
|
rs774777538
|
0.00003
|
NM_012431.3(SEMA3E):c.1084G>A (p.Gly362Arg)
|
rs751565672
|
0.00002
|
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe)
|
rs753965043
|
0.00002
|
NM_012431.3(SEMA3E):c.1303C>G (p.Gln435Glu)
|
rs752774852
|
0.00002
|
NM_012431.3(SEMA3E):c.1320A>G (p.Arg440=)
|
rs750937375
|
0.00002
|
NM_012431.3(SEMA3E):c.1383G>T (p.Leu461=)
|
rs139043841
|
0.00002
|
NM_012431.3(SEMA3E):c.1413G>A (p.Met471Ile)
|
rs752959572
|
0.00002
|
NM_012431.3(SEMA3E):c.1500+5G>A
|
rs201772961
|
0.00002
|
NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=)
|
rs574901886
|
0.00002
|
NM_012431.3(SEMA3E):c.1997G>A (p.Arg666His)
|
rs779454555
|
0.00002
|
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys)
|
rs538244011
|
0.00002
|
NM_012431.3(SEMA3E):c.2320G>T (p.Asp774Tyr)
|
rs767621375
|
0.00002
|
NM_012431.3(SEMA3E):c.266G>A (p.Gly89Asp)
|
rs773688938
|
0.00002
|
NM_012431.3(SEMA3E):c.267C>T (p.Gly89=)
|
rs375209449
|
0.00002
|
NM_012431.3(SEMA3E):c.335C>T (p.Ala112Val)
|
rs780025635
|
0.00002
|
NM_012431.3(SEMA3E):c.446A>G (p.Tyr149Cys)
|
rs775302619
|
0.00002
|
NM_012431.3(SEMA3E):c.659G>A (p.Arg220His)
|
rs150833995
|
0.00002
|
NM_012431.3(SEMA3E):c.671-19C>A
|
rs375797663
|
0.00002
|
NM_012431.3(SEMA3E):c.796G>A (p.Val266Ile)
|
rs762866887
|
0.00002
|
NM_012431.3(SEMA3E):c.798C>T (p.Val266=)
|
rs1475070881
|
0.00002
|
NM_012431.3(SEMA3E):c.929-10A>G
|
rs1032615953
|
0.00002
|
NM_012431.3(SEMA3E):c.1049G>A (p.Arg350Gln)
|
rs748722795
|
0.00001
|
NM_012431.3(SEMA3E):c.1053A>G (p.Ala351=)
|
rs1208777030
|
0.00001
|
NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp)
|
rs1378507372
|
0.00001
|
NM_012431.3(SEMA3E):c.1144T>C (p.Cys382Arg)
|
rs200162096
|
0.00001
|
NM_012431.3(SEMA3E):c.116-15C>T
|
rs745461858
|
0.00001
|
NM_012431.3(SEMA3E):c.1198G>T (p.Asp400Tyr)
|
rs766917020
|
0.00001
|
NM_012431.3(SEMA3E):c.1214C>T (p.Ala405Val)
|
rs1390797360
|
0.00001
|
NM_012431.3(SEMA3E):c.1221T>C (p.Ser407=)
|
rs1435041618
|
0.00001
|
NM_012431.3(SEMA3E):c.122T>C (p.Leu41Ser)
|
rs778519947
|
0.00001
|
NM_012431.3(SEMA3E):c.1313T>C (p.Val438Ala)
|
rs755186079
|
0.00001
|
NM_012431.3(SEMA3E):c.1322T>C (p.Val441Ala)
|
rs765714534
|
0.00001
|
NM_012431.3(SEMA3E):c.1337G>A (p.Gly446Asp)
|
rs1788207145
|
0.00001
|
NM_012431.3(SEMA3E):c.1367-4A>G
|
rs927631455
|
0.00001
|
NM_012431.3(SEMA3E):c.1429G>A (p.Val477Ile)
|
rs1327334624
|
0.00001
|
NM_012431.3(SEMA3E):c.1443A>T (p.Glu481Asp)
|
rs764562322
|
0.00001
|
NM_012431.3(SEMA3E):c.1480A>G (p.Met494Val)
|
rs145819479
|
0.00001
|
NM_012431.3(SEMA3E):c.149A>G (p.His50Arg)
|
rs777818746
|
0.00001
|
NM_012431.3(SEMA3E):c.1506G>T (p.Gln502His)
|
rs1170846873
|
0.00001
|
NM_012431.3(SEMA3E):c.154C>A (p.Pro52Thr)
|
rs1033262030
|
0.00001
|
NM_012431.3(SEMA3E):c.1667+3G>A
|
rs778403800
|
0.00001
|
NM_012431.3(SEMA3E):c.1690C>T (p.Arg564Ter)
|
rs1420638220
|
0.00001
|
NM_012431.3(SEMA3E):c.1754C>A (p.Thr585Asn)
|
rs761147897
|
0.00001
|
NM_012431.3(SEMA3E):c.1876-11T>C
|
rs542379432
|
0.00001
|
NM_012431.3(SEMA3E):c.1918C>T (p.Leu640Phe)
|
rs1246755098
|
0.00001
|
NM_012431.3(SEMA3E):c.1959T>C (p.Phe653=)
|
rs755163849
|
0.00001
|
NM_012431.3(SEMA3E):c.1977T>C (p.His659=)
|
rs1451860370
|
0.00001
|
NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met)
|
rs375536813
|
0.00001
|
NM_012431.3(SEMA3E):c.1992G>A (p.Thr664=)
|
rs753319647
|
0.00001
|
NM_012431.3(SEMA3E):c.2034C>T (p.Val678=)
|
rs146635766
|
0.00001
|
NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn)
|
rs768606535
|
0.00001
|
NM_012431.3(SEMA3E):c.2057A>T (p.Asp686Val)
|
rs371910815
|
0.00001
|
NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=)
|
rs765040215
|
0.00001
|
NM_012431.3(SEMA3E):c.233T>C (p.Val78Ala)
|
rs765517064
|
0.00001
|
NM_012431.3(SEMA3E):c.237T>C (p.Tyr79=)
|
rs1790350122
|
0.00001
|
NM_012431.3(SEMA3E):c.265G>A (p.Gly89Ser)
|
rs759100269
|
0.00001
|
NM_012431.3(SEMA3E):c.276+19G>C
|
rs186974190
|
0.00001
|
NM_012431.3(SEMA3E):c.321G>A (p.Met107Ile)
|
rs1789839857
|
0.00001
|
NM_012431.3(SEMA3E):c.336G>A (p.Ala112=)
|
rs770979660
|
0.00001
|
NM_012431.3(SEMA3E):c.378C>T (p.Asn126=)
|
rs758897440
|
0.00001
|
NM_012431.3(SEMA3E):c.475G>C (p.Glu159Gln)
|
rs1241693530
|
0.00001
|
NM_012431.3(SEMA3E):c.520C>T (p.Pro174Ser)
|
rs1441322114
|
0.00001
|
NM_012431.3(SEMA3E):c.551-17C>T
|
rs771573182
|
0.00001
|
NM_012431.3(SEMA3E):c.566C>T (p.Ala189Val)
|
rs765052488
|
0.00001
|
NM_012431.3(SEMA3E):c.576C>T (p.Tyr192=)
|
rs756263299
|
0.00001
|
NM_012431.3(SEMA3E):c.58T>C (p.Trp20Arg)
|
rs963545974
|
0.00001
|
NM_012431.3(SEMA3E):c.597C>T (p.Asp199=)
|
rs200688368
|
0.00001
|
NM_012431.3(SEMA3E):c.600T>G (p.Ala200=)
|
rs773812106
|
0.00001
|
NM_012431.3(SEMA3E):c.616A>G (p.Met206Val)
|
rs745626807
|
0.00001
|
NM_012431.3(SEMA3E):c.635T>C (p.Ile212Thr)
|
rs1429112884
|
0.00001
|
NM_012431.3(SEMA3E):c.642T>G (p.Thr214=)
|
rs1457393978
|
0.00001
|
NM_012431.3(SEMA3E):c.670+12G>A
|
rs1383072223
|
0.00001
|
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=)
|
rs143878781
|
0.00001
|
NM_012431.3(SEMA3E):c.802C>A (p.Arg268=)
|
rs769859383
|
0.00001
|
NM_012431.3(SEMA3E):c.869C>T (p.Ala290Val)
|
rs749567149
|
0.00001
|
NM_012431.3(SEMA3E):c.870G>A (p.Ala290=)
|
rs756513699
|
0.00001
|
NM_012431.3(SEMA3E):c.999-10T>C
|
rs371994521
|
0.00001
|
NM_012431.3(SEMA3E):c.999-3C>T
|
rs566304903
|
0.00001
|
NM_012431.3(SEMA3E):c.999-9A>G
|
rs776954864
|
0.00001
|
NC_000007.13:g.(?_82996902)_(82997374_?)dup
|
|
|
NC_000007.13:g.(?_83047686)_(83047819_?)dup
|
|
|
NC_000007.13:g.(?_83047686)_(83119610_?)dup
|
|
|
NC_000007.13:g.(?_83277724)_(83277858_?)del
|
|
|
NM_012431.3(SEMA3E):c.1009C>A (p.Arg337=)
|
rs965528935
|
|
NM_012431.3(SEMA3E):c.1009C>T (p.Arg337Ter)
|
rs965528935
|
|
NM_012431.3(SEMA3E):c.1010G>A (p.Arg337Gln)
|
|
|
NM_012431.3(SEMA3E):c.1021A>G (p.Ile341Val)
|
|
|
NM_012431.3(SEMA3E):c.1025G>A (p.Cys342Tyr)
|
|
|
NM_012431.3(SEMA3E):c.102C>T (p.Arg34=)
|
|
|
NM_012431.3(SEMA3E):c.1034A>G (p.His345Arg)
|
|
|
NM_012431.3(SEMA3E):c.1046T>C (p.Ile349Thr)
|
|
|
NM_012431.3(SEMA3E):c.1052C>T (p.Ala351Val)
|
|
|
NM_012431.3(SEMA3E):c.1062C>T (p.Asn354=)
|
|
|
NM_012431.3(SEMA3E):c.1076A>T (p.His359Leu)
|
rs373965521
|
|
NM_012431.3(SEMA3E):c.1085G>A (p.Gly362Glu)
|
|
|
NM_012431.3(SEMA3E):c.108A>G (p.Ser36=)
|
|
|
NM_012431.3(SEMA3E):c.1099T>C (p.Trp367Arg)
|
|
|
NM_012431.3(SEMA3E):c.1120G>A (p.Val374Ile)
|
rs1788253309
|
|
NM_012431.3(SEMA3E):c.1125T>G (p.Pro375=)
|
rs2115627595
|
|
NM_012431.3(SEMA3E):c.112A>C (p.Lys38Gln)
|
|
|
NM_012431.3(SEMA3E):c.1131A>G (p.Pro377=)
|
|
|
NM_012431.3(SEMA3E):c.1138G>C (p.Gly380Arg)
|
|
|
NM_012431.3(SEMA3E):c.1143+15A>G
|
|
|
NM_012431.3(SEMA3E):c.1143+17A>G
|
|
|
NM_012431.3(SEMA3E):c.1144-12C>T
|
|
|
NM_012431.3(SEMA3E):c.1144-13A>G
|
|
|
NM_012431.3(SEMA3E):c.1144-15C>A
|
|
|
NM_012431.3(SEMA3E):c.1144-19_1144-15del
|
rs755190119
|
|
NM_012431.3(SEMA3E):c.1144-7T>C
|
rs1370491845
|
|
NM_012431.3(SEMA3E):c.1146T>C (p.Cys382=)
|
|
|
NM_012431.3(SEMA3E):c.115+4G>A
|
|
|
NM_012431.3(SEMA3E):c.1154A>G (p.Lys385Arg)
|
|
|
NM_012431.3(SEMA3E):c.116-10T>A
|
rs1562804630
|
|
NM_012431.3(SEMA3E):c.116-16T>A
|
rs771714740
|
|
NM_012431.3(SEMA3E):c.116-7A>T
|
rs2115977179
|
|
NM_012431.3(SEMA3E):c.1171T>C (p.Tyr391His)
|
rs2115617387
|
|
NM_012431.3(SEMA3E):c.1177A>T (p.Thr393Ser)
|
rs1027331615
|
|
NM_012431.3(SEMA3E):c.1182C>G (p.Thr394=)
|
|
|
NM_012431.3(SEMA3E):c.1194T>C (p.Pro398=)
|
|
|
NM_012431.3(SEMA3E):c.11C>T (p.Ala4Val)
|
|
|
NM_012431.3(SEMA3E):c.1208G>A (p.Arg403Gln)
|
|
|
NM_012431.3(SEMA3E):c.1216A>G (p.Arg406Gly)
|
rs1584221582
|
|
NM_012431.3(SEMA3E):c.1220G>A (p.Ser407Asn)
|
rs769258588
|
|
NM_012431.3(SEMA3E):c.1233G>A (p.Met411Ile)
|
rs2115616756
|
|
NM_012431.3(SEMA3E):c.123G>A (p.Leu41=)
|
rs2115977130
|
|
NM_012431.3(SEMA3E):c.1240G>A (p.Ala414Thr)
|
|
|
NM_012431.3(SEMA3E):c.1243A>T (p.Ile415Leu)
|
rs1180431769
|
|
NM_012431.3(SEMA3E):c.1251T>G (p.Pro417=)
|
rs2115616642
|
|
NM_012431.3(SEMA3E):c.1259A>G (p.Lys420Arg)
|
|
|
NM_012431.3(SEMA3E):c.1260A>G (p.Lys420=)
|
|
|
NM_012431.3(SEMA3E):c.1264C>A (p.Pro422Thr)
|
|
|
NM_012431.3(SEMA3E):c.1269A>G (p.Ile423Met)
|
|
|
NM_012431.3(SEMA3E):c.1273G>A (p.Val425Ile)
|
|
|
NM_012431.3(SEMA3E):c.1295A>G (p.Asn432Ser)
|
|
|
NM_012431.3(SEMA3E):c.1296C>A (p.Asn432Lys)
|
rs769637710
|
|
NM_012431.3(SEMA3E):c.1309G>A (p.Ala437Thr)
|
rs781593656
|
|
NM_012431.3(SEMA3E):c.1319G>A (p.Arg440Gln)
|
|
|
NM_012431.3(SEMA3E):c.1324G>C (p.Glu442Gln)
|
|
|
NM_012431.3(SEMA3E):c.1341A>C (p.Gln447His)
|
|
|
NM_012431.3(SEMA3E):c.1341A>G (p.Gln447=)
|
rs149235216
|
|
NM_012431.3(SEMA3E):c.1346A>T (p.Asp449Val)
|
rs1788206837
|
|
NM_012431.3(SEMA3E):c.1347C>T (p.Asp449=)
|
rs148072082
|
|
NM_012431.3(SEMA3E):c.1359T>C (p.Ile453=)
|
|
|
NM_012431.3(SEMA3E):c.1366+11G>T
|
|
|
NM_012431.3(SEMA3E):c.1366+1G>T
|
|
|
NM_012431.3(SEMA3E):c.1367-17GTTTT[3]
|
|
|
NM_012431.3(SEMA3E):c.1367-20C>T
|
|
|
NM_012431.3(SEMA3E):c.1367-7C>T
|
rs2115601484
|
|
NM_012431.3(SEMA3E):c.1383G>A (p.Leu461=)
|
rs139043841
|
|
NM_012431.3(SEMA3E):c.1390A>G (p.Ile464Val)
|
|
|
NM_012431.3(SEMA3E):c.1392C>T (p.Ile464=)
|
|
|
NM_012431.3(SEMA3E):c.1393A>C (p.Thr465Pro)
|
|
|
NM_012431.3(SEMA3E):c.1404C>G (p.Asn468Lys)
|
|
|
NM_012431.3(SEMA3E):c.1405C>G (p.Gln469Glu)
|
|
|
NM_012431.3(SEMA3E):c.1411A>G (p.Met471Val)
|
rs575712751
|
|
NM_012431.3(SEMA3E):c.1444C>A (p.Leu482Ile)
|
|
|
NM_012431.3(SEMA3E):c.1457A>T (p.Lys486Met)
|
rs1788128084
|
|
NM_012431.3(SEMA3E):c.1458+11C>T
|
|
|
NM_012431.3(SEMA3E):c.1458+19A>G
|
rs2115600702
|
|
NM_012431.3(SEMA3E):c.1458+1G>T
|
|
|
NM_012431.3(SEMA3E):c.1459-11del
|
|
|
NM_012431.3(SEMA3E):c.1459-11dup
|
rs1788078377
|
|
NM_012431.3(SEMA3E):c.1459-12_1459-11del
|
rs1788078377
|
|
NM_012431.3(SEMA3E):c.1459-17del
|
rs2115589623
|
|
NM_012431.3(SEMA3E):c.1461T>C (p.Asp487=)
|
|
|
NM_012431.3(SEMA3E):c.1462C>G (p.Pro488Ala)
|
|
|
NM_012431.3(SEMA3E):c.1476T>A (p.Ile492=)
|
|
|
NM_012431.3(SEMA3E):c.1484A>C (p.Glu495Ala)
|
|
|
NM_012431.3(SEMA3E):c.1485G>A (p.Glu495=)
|
|
|
NM_012431.3(SEMA3E):c.1498C>T (p.Arg500Trp)
|
rs111300014
|
|
NM_012431.3(SEMA3E):c.1500+16G>A
|
|
|
NM_012431.3(SEMA3E):c.1500+6T>C
|
|
|
NM_012431.3(SEMA3E):c.1500G>A (p.Arg500=)
|
rs767115234
|
|
NM_012431.3(SEMA3E):c.1506G>C (p.Gln502His)
|
|
|
NM_012431.3(SEMA3E):c.150T>C (p.His50=)
|
|
|
NM_012431.3(SEMA3E):c.1518A>C (p.Gly506=)
|
rs1788042634
|
|
NM_012431.3(SEMA3E):c.1550A>G (p.His517Arg)
|
|
|
NM_012431.3(SEMA3E):c.1557T>C (p.Cys519=)
|
|
|
NM_012431.3(SEMA3E):c.1563G>A (p.Met521Ile)
|
|
|
NM_012431.3(SEMA3E):c.1565A>G (p.Tyr522Cys)
|
|
|
NM_012431.3(SEMA3E):c.157T>G (p.Phe53Val)
|
|
|
NM_012431.3(SEMA3E):c.15G>C (p.Gly5=)
|
|
|
NM_012431.3(SEMA3E):c.161G>A (p.Gly54Glu)
|
|
|
NM_012431.3(SEMA3E):c.1620T>C (p.Asp540=)
|
|
|
NM_012431.3(SEMA3E):c.1630T>C (p.Cys544Arg)
|
rs2115581814
|
|
NM_012431.3(SEMA3E):c.1636C>T (p.Arg546Trp)
|
|
|
NM_012431.3(SEMA3E):c.1657C>G (p.His553Asp)
|
|
|
NM_012431.3(SEMA3E):c.1667+8G>A
|
|
|
NM_012431.3(SEMA3E):c.1667+8G>T
|
|
|
NM_012431.3(SEMA3E):c.1668-10T>G
|
rs1284168796
|
|
NM_012431.3(SEMA3E):c.1668-18G>T
|
rs771755120
|
|
NM_012431.3(SEMA3E):c.1686T>C (p.Asp562=)
|
|
|
NM_012431.3(SEMA3E):c.1691G>A (p.Arg564Gln)
|
|
|
NM_012431.3(SEMA3E):c.1709A>T (p.Gln570Leu)
|
rs1787895198
|
|
NM_012431.3(SEMA3E):c.1710G>A (p.Gln570=)
|
rs1584209229
|
|
NM_012431.3(SEMA3E):c.1727A>C (p.Gln576Pro)
|
|
|
NM_012431.3(SEMA3E):c.1728G>A (p.Gln576=)
|
rs2116918980
|
|
NM_012431.3(SEMA3E):c.1733T>C (p.Val578Ala)
|
rs776901860
|
|
NM_012431.3(SEMA3E):c.1735+17C>T
|
|
|
NM_012431.3(SEMA3E):c.1736-13G>T
|
rs1296337014
|
|
NM_012431.3(SEMA3E):c.1736-9C>T
|
|
|
NM_012431.3(SEMA3E):c.1736G>T (p.Gly579Val)
|
|
|
NM_012431.3(SEMA3E):c.1739A>T (p.Asp580Val)
|
rs754158945
|
|
NM_012431.3(SEMA3E):c.1745T>C (p.Leu582Ser)
|
|
|
NM_012431.3(SEMA3E):c.1748A>G (p.Asp583Gly)
|
|
|
NM_012431.3(SEMA3E):c.1753A>G (p.Thr585Ala)
|
rs1166890439
|
|
NM_012431.3(SEMA3E):c.1803A>C (p.Glu601Asp)
|
|
|
NM_012431.3(SEMA3E):c.1806T>C (p.Cys602=)
|
|
|
NM_012431.3(SEMA3E):c.1811C>T (p.Pro604Leu)
|
|
|
NM_012431.3(SEMA3E):c.1814G>A (p.Arg605Gln)
|
|
|
NM_012431.3(SEMA3E):c.1822C>T (p.Gln608Ter)
|
|
|
NM_012431.3(SEMA3E):c.1826C>A (p.Ala609Glu)
|
|
|
NM_012431.3(SEMA3E):c.1826C>G (p.Ala609Gly)
|
rs778141353
|
|
NM_012431.3(SEMA3E):c.1828A>C (p.Lys610Gln)
|
|
|
NM_012431.3(SEMA3E):c.1831G>A (p.Val611Ile)
|
|
|
NM_012431.3(SEMA3E):c.1834A>G (p.Ile612Val)
|
|
|
NM_012431.3(SEMA3E):c.1834A>T (p.Ile612Phe)
|
rs560983031
|
|
NM_012431.3(SEMA3E):c.1834del (p.Ile612fs)
|
|
|
NM_012431.3(SEMA3E):c.1850A>G (p.Lys617Arg)
|
|
|
NM_012431.3(SEMA3E):c.1857T>G (p.Arg619=)
|
|
|
NM_012431.3(SEMA3E):c.1861A>G (p.Thr621Ala)
|
|
|
NM_012431.3(SEMA3E):c.1862C>A (p.Thr621Lys)
|
|
|
NM_012431.3(SEMA3E):c.1875+15C>A
|
rs1325542892
|
|
NM_012431.3(SEMA3E):c.1875+17T>G
|
|
|
NM_012431.3(SEMA3E):c.1875+19T>C
|
|
|
NM_012431.3(SEMA3E):c.1875+20T>G
|
|
|
NM_012431.3(SEMA3E):c.1876-14T>A
|
rs891019060
|
|
NM_012431.3(SEMA3E):c.1876-4G>T
|
rs1321372061
|
|
NM_012431.3(SEMA3E):c.1876-5T>C
|
rs1794699166
|
|
NM_012431.3(SEMA3E):c.1876-8T>C
|
|
|
NM_012431.3(SEMA3E):c.1876G>A (p.Val626Met)
|
rs2116892550
|
|
NM_012431.3(SEMA3E):c.1885G>T (p.Asp629Tyr)
|
|
|
NM_012431.3(SEMA3E):c.1887T>A (p.Asp629Glu)
|
|
|
NM_012431.3(SEMA3E):c.1890C>T (p.Asp630=)
|
|
|
NM_012431.3(SEMA3E):c.1893A>C (p.Arg631Ser)
|
rs900496407
|
|
NM_012431.3(SEMA3E):c.1900A>C (p.Lys634Gln)
|
rs1421745476
|
|
NM_012431.3(SEMA3E):c.1905G>A (p.Met635Ile)
|
rs1794698535
|
|
NM_012431.3(SEMA3E):c.1914T>A (p.Gly638=)
|
rs1794698394
|
|
NM_012431.3(SEMA3E):c.1929G>C (p.Arg643Ser)
|
|
|
NM_012431.3(SEMA3E):c.1932A>G (p.Leu644=)
|
|
|
NM_012431.3(SEMA3E):c.1939T>G (p.Ser647Ala)
|
rs2116892427
|
|
NM_012431.3(SEMA3E):c.1953C>T (p.Thr651=)
|
|
|
NM_012431.3(SEMA3E):c.1967C>T (p.Thr656Ile)
|
|
|
NM_012431.3(SEMA3E):c.1970T>C (p.Val657Ala)
|
|
|
NM_012431.3(SEMA3E):c.1992G>T (p.Thr664=)
|
|
|
NM_012431.3(SEMA3E):c.2004C>T (p.Ile668=)
|
|
|
NM_012431.3(SEMA3E):c.2006C>T (p.Thr669Ile)
|
|
|
NM_012431.3(SEMA3E):c.2008T>C (p.Leu670=)
|
|
|
NM_012431.3(SEMA3E):c.2013G>A (p.Glu671=)
|
|
|
NM_012431.3(SEMA3E):c.2027A>G (p.Glu676Gly)
|
rs775000046
|
|
NM_012431.3(SEMA3E):c.202G>A (p.Glu68Lys)
|
|
|
NM_012431.3(SEMA3E):c.2035G>A (p.Glu679Lys)
|
|
|
NM_012431.3(SEMA3E):c.2055C>T (p.Asp685=)
|
|
|
NM_012431.3(SEMA3E):c.2070G>A (p.Arg690=)
|
rs757700378
|
|
NM_012431.3(SEMA3E):c.2075A>G (p.His692Arg)
|
|
|
NM_012431.3(SEMA3E):c.2079G>A (p.Arg693=)
|
|
|
NM_012431.3(SEMA3E):c.2106C>G (p.Ile702Met)
|
rs2116892082
|
|
NM_012431.3(SEMA3E):c.2109G>A (p.Ser703=)
|
|
|
NM_012431.3(SEMA3E):c.214G>T (p.Val72Leu)
|
rs371960755
|
|
NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=)
|
rs375211355
|
|
NM_012431.3(SEMA3E):c.2155T>G (p.Tyr719Asp)
|
rs879255398
|
|
NM_012431.3(SEMA3E):c.2159G>C (p.Ser720Thr)
|
rs372156795
|
|
NM_012431.3(SEMA3E):c.2187C>T (p.Cys729=)
|
|
|
NM_012431.3(SEMA3E):c.2188G>T (p.Glu730Ter)
|
rs752107396
|
|
NM_012431.3(SEMA3E):c.2193A>G (p.Lys731=)
|
rs2116891865
|
|
NM_012431.3(SEMA3E):c.2199G>T (p.Trp733Cys)
|
|
|
NM_012431.3(SEMA3E):c.2201G>C (p.Cys734Ser)
|
|
|
NM_012431.3(SEMA3E):c.2208T>G (p.Asp736Glu)
|
rs200621696
|
|
NM_012431.3(SEMA3E):c.2212_2215del (p.Lys738fs)
|
|
|
NM_012431.3(SEMA3E):c.2216G>A (p.Arg739Lys)
|
rs750426538
|
|
NM_012431.3(SEMA3E):c.2224C>A (p.Leu742Ile)
|
|
|
NM_012431.3(SEMA3E):c.2234C>T (p.Ser745Leu)
|
rs2116891755
|
|
NM_012431.3(SEMA3E):c.2239T>A (p.Ser747Thr)
|
|
|
NM_012431.3(SEMA3E):c.223A>G (p.Arg75Gly)
|
|
|
NM_012431.3(SEMA3E):c.2253T>C (p.Tyr751=)
|
|
|
NM_012431.3(SEMA3E):c.2282C>G (p.Ser761Cys)
|
|
|
NM_012431.3(SEMA3E):c.228C>A (p.Asp76Glu)
|
|
|
NM_012431.3(SEMA3E):c.229C>T (p.Leu77Phe)
|
|
|
NM_012431.3(SEMA3E):c.2300G>T (p.Arg767Leu)
|
|
|
NM_012431.3(SEMA3E):c.2302C>T (p.Leu768=)
|
rs2116891596
|
|
NM_012431.3(SEMA3E):c.2303dup (p.Pro769fs)
|
rs2116891594
|
|
NM_012431.3(SEMA3E):c.2307C>T (p.Pro769=)
|
rs1199344717
|
|
NM_012431.3(SEMA3E):c.2315C>T (p.Thr772Met)
|
|
|
NM_012431.3(SEMA3E):c.249G>T (p.Leu83Phe)
|
rs2115976438
|
|
NM_012431.3(SEMA3E):c.25A>G (p.Thr9Ala)
|
|
|
NM_012431.3(SEMA3E):c.265G>C (p.Gly89Arg)
|
|
|
NM_012431.3(SEMA3E):c.266G>C (p.Gly89Ala)
|
|
|
NM_012431.3(SEMA3E):c.276+10T>C
|
|
|
NM_012431.3(SEMA3E):c.277-13_277-2dup
|
|
|
NM_012431.3(SEMA3E):c.277A>T (p.Ile93Leu)
|
|
|
NM_012431.3(SEMA3E):c.281A>G (p.His94Arg)
|
|
|
NM_012431.3(SEMA3E):c.287C>A (p.Pro96Gln)
|
|
|
NM_012431.3(SEMA3E):c.287C>T (p.Pro96Leu)
|
|
|
NM_012431.3(SEMA3E):c.288G>C (p.Pro96=)
|
|
|
NM_012431.3(SEMA3E):c.289A>T (p.Ser97Cys)
|
rs1445294085
|
|
NM_012431.3(SEMA3E):c.306G>A (p.Met102Ile)
|
|
|
NM_012431.3(SEMA3E):c.30G>A (p.Leu10=)
|
|
|
NM_012431.3(SEMA3E):c.316A>G (p.Ile106Val)
|
|
|
NM_012431.3(SEMA3E):c.320T>A (p.Met107Lys)
|
rs1429296509
|
|
NM_012431.3(SEMA3E):c.335C>A (p.Ala112Glu)
|
|
|
NM_012431.3(SEMA3E):c.336+14A>G
|
|
|
NM_012431.3(SEMA3E):c.336+15T>C
|
|
|
NM_012431.3(SEMA3E):c.337-11del
|
rs536827692
|
|
NM_012431.3(SEMA3E):c.337-11dup
|
rs536827692
|
|
NM_012431.3(SEMA3E):c.337-18C>G
|
|
|
NM_012431.3(SEMA3E):c.337-1G>C
|
rs1311561381
|
|
NM_012431.3(SEMA3E):c.337-9C>T
|
rs1352755933
|
|
NM_012431.3(SEMA3E):c.344G>A (p.Cys115Tyr)
|
rs2115880845
|
|
NM_012431.3(SEMA3E):c.352T>C (p.Tyr118His)
|
rs1419581021
|
|
NM_012431.3(SEMA3E):c.358C>T (p.Arg120Trp)
|
|
|
NM_012431.3(SEMA3E):c.371A>G (p.His124Arg)
|
rs1487949587
|
|
NM_012431.3(SEMA3E):c.37T>C (p.Trp13Arg)
|
|
|
NM_012431.3(SEMA3E):c.383C>A (p.Thr128Lys)
|
|
|
NM_012431.3(SEMA3E):c.387_388insAATAAAAACAATGCTTAAAACAACCTTGTTCTCAAAGAAAGACTACAGCATTT (p.Leu130delinsAsnLysAsnAsnAlaTer)
|
|
|
NM_012431.3(SEMA3E):c.396C>G (p.Thr132=)
|
rs1584267738
|
|
NM_012431.3(SEMA3E):c.39G>A (p.Trp13Ter)
|
|
|
NM_012431.3(SEMA3E):c.414T>C (p.Phe138=)
|
|
|
NM_012431.3(SEMA3E):c.41G>T (p.Gly14Val)
|
|
|
NM_012431.3(SEMA3E):c.433A>G (p.Ile145Val)
|
|
|
NM_012431.3(SEMA3E):c.439G>T (p.Val147Phe)
|
|
|
NM_012431.3(SEMA3E):c.445T>C (p.Tyr149His)
|
rs1789759218
|
|
NM_012431.3(SEMA3E):c.447T>A (p.Tyr149Ter)
|
rs1789759019
|
|
NM_012431.3(SEMA3E):c.456+11T>A
|
|
|
NM_012431.3(SEMA3E):c.456+5G>A
|
|
|
NM_012431.3(SEMA3E):c.461C>T (p.Pro154Leu)
|
|
|
NM_012431.3(SEMA3E):c.482C>A (p.Pro161His)
|
|
|
NM_012431.3(SEMA3E):c.494G>A (p.Arg165Lys)
|
|
|
NM_012431.3(SEMA3E):c.508T>A (p.Cys170Ser)
|
|
|
NM_012431.3(SEMA3E):c.517G>T (p.Asp173Tyr)
|
rs1562773446
|
|
NM_012431.3(SEMA3E):c.531C>T (p.Ser177=)
|
|
|
NM_012431.3(SEMA3E):c.532T>G (p.Phe178Val)
|
|
|
NM_012431.3(SEMA3E):c.535A>G (p.Ile179Val)
|
|
|
NM_012431.3(SEMA3E):c.537C>T (p.Ile179=)
|
rs944160895
|
|
NM_012431.3(SEMA3E):c.550+14C>T
|
|
|
NM_012431.3(SEMA3E):c.550+17C>T
|
|
|
NM_012431.3(SEMA3E):c.550+5T>C
|
|
|
NM_012431.3(SEMA3E):c.550+6T>A
|
rs1788600213
|
|
NM_012431.3(SEMA3E):c.551-11C>T
|
|
|
NM_012431.3(SEMA3E):c.551-14A>G
|
|
|
NM_012431.3(SEMA3E):c.551-14A>T
|
|
|
NM_012431.3(SEMA3E):c.551-18A>G
|
rs774812464
|
|
NM_012431.3(SEMA3E):c.551-19del
|
|
|
NM_012431.3(SEMA3E):c.551-3T>G
|
rs1351334262
|
|
NM_012431.3(SEMA3E):c.551-4G>A
|
rs1788369989
|
|
NM_012431.3(SEMA3E):c.553A>G (p.Ser185Gly)
|
|
|
NM_012431.3(SEMA3E):c.555T>C (p.Ser185=)
|
|
|
NM_012431.3(SEMA3E):c.56T>G (p.Leu19Arg)
|
|
|
NM_012431.3(SEMA3E):c.570A>T (p.Gly190=)
|
rs1788369340
|
|
NM_012431.3(SEMA3E):c.590G>A (p.Ser197Asn)
|
|
|
NM_012431.3(SEMA3E):c.5C>T (p.Ala2Val)
|
|
|
NM_012431.3(SEMA3E):c.603_604delinsTG (p.Ile202Val)
|
rs2115654865
|
|
NM_012431.3(SEMA3E):c.603_604inv (p.Ile202Leu)
|
|
|
NM_012431.3(SEMA3E):c.609C>T (p.Phe203=)
|
|
|
NM_012431.3(SEMA3E):c.611G>A (p.Arg204His)
|
|
|
NM_012431.3(SEMA3E):c.612C>T (p.Arg204=)
|
rs2115654801
|
|
NM_012431.3(SEMA3E):c.621del (p.Arg208fs)
|
rs2115654665
|
|
NM_012431.3(SEMA3E):c.630C>T (p.Ala210=)
|
|
|
NM_012431.3(SEMA3E):c.638G>A (p.Arg213His)
|
|
|
NM_012431.3(SEMA3E):c.646C>T (p.His216Tyr)
|
|
|
NM_012431.3(SEMA3E):c.649G>A (p.Asp217Asn)
|
|
|
NM_012431.3(SEMA3E):c.657G>A (p.Glu219=)
|
|
|
NM_012431.3(SEMA3E):c.658C>T (p.Arg220Cys)
|
|
|
NM_012431.3(SEMA3E):c.670+11G>A
|
|
|
NM_012431.3(SEMA3E):c.670+20T>C
|
|
|
NM_012431.3(SEMA3E):c.670+8T>A
|
|
|
NM_012431.3(SEMA3E):c.671-16T>C
|
|
|
NM_012431.3(SEMA3E):c.671-19C>T
|
rs375797663
|
|
NM_012431.3(SEMA3E):c.671-1G>C
|
|
|
NM_012431.3(SEMA3E):c.671-2A>G
|
|
|
NM_012431.3(SEMA3E):c.671-7C>T
|
rs1255502131
|
|
NM_012431.3(SEMA3E):c.693C>T (p.Tyr231=)
|
rs2115649282
|
|
NM_012431.3(SEMA3E):c.707A>G (p.Asn236Ser)
|
|
|
NM_012431.3(SEMA3E):c.707A>T (p.Asn236Ile)
|
|
|
NM_012431.3(SEMA3E):c.708T>C (p.Asn236=)
|
|
|
NM_012431.3(SEMA3E):c.713A>G (p.Asp238Gly)
|
rs1554320716
|
|
NM_012431.3(SEMA3E):c.716G>C (p.Arg239Thr)
|
rs1295531534
|
|
NM_012431.3(SEMA3E):c.718G>T (p.Asp240Tyr)
|
rs777910966
|
|
NM_012431.3(SEMA3E):c.726C>T (p.Asn242=)
|
|
|
NM_012431.3(SEMA3E):c.732A>G (p.Val244=)
|
|
|
NM_012431.3(SEMA3E):c.733T>G (p.Tyr245Asp)
|
rs2115649014
|
|
NM_012431.3(SEMA3E):c.758T>C (p.Leu253Pro)
|
|
|
NM_012431.3(SEMA3E):c.760G>C (p.Glu254Gln)
|
|
|
NM_012431.3(SEMA3E):c.780C>T (p.His260=)
|
rs533306215
|
|
NM_012431.3(SEMA3E):c.781G>A (p.Ala261Thr)
|
rs773917768
|
|
NM_012431.3(SEMA3E):c.781G>C (p.Ala261Pro)
|
|
|
NM_012431.3(SEMA3E):c.789C>T (p.Tyr263=)
|
rs1467250504
|
|
NM_012431.3(SEMA3E):c.793A>G (p.Arg265Gly)
|
rs2115648631
|
|
NM_012431.3(SEMA3E):c.795G>T (p.Arg265Ser)
|
rs2115648620
|
|
NM_012431.3(SEMA3E):c.799G>A (p.Gly267Arg)
|
|
|
NM_012431.3(SEMA3E):c.802C>T (p.Arg268Ter)
|
|
|
NM_012431.3(SEMA3E):c.803G>A (p.Arg268Gln)
|
|
|
NM_012431.3(SEMA3E):c.807C>T (p.Leu269=)
|
|
|
NM_012431.3(SEMA3E):c.809G>C (p.Cys270Ser)
|
|
|
NM_012431.3(SEMA3E):c.813+10TC[3]
|
|
|
NM_012431.3(SEMA3E):c.813+20_813+22del
|
|
|
NM_012431.3(SEMA3E):c.813+6G>A
|
|
|
NM_012431.3(SEMA3E):c.814-18C>G
|
rs1027659475
|
|
NM_012431.3(SEMA3E):c.814-20C>T
|
|
|
NM_012431.3(SEMA3E):c.814-9T>C
|
rs1562767558
|
|
NM_012431.3(SEMA3E):c.815A>G (p.Asn272Ser)
|
|
|
NM_012431.3(SEMA3E):c.816T>C (p.Asn272=)
|
|
|
NM_012431.3(SEMA3E):c.841G>A (p.Val281Met)
|
rs2115643274
|
|
NM_012431.3(SEMA3E):c.84T>C (p.Thr28=)
|
|
|
NM_012431.3(SEMA3E):c.864A>G (p.Leu288=)
|
rs1584226009
|
|
NM_012431.3(SEMA3E):c.867A>G (p.Lys289=)
|
rs2115643169
|
|
NM_012431.3(SEMA3E):c.868G>A (p.Ala290Thr)
|
|
|
NM_012431.3(SEMA3E):c.870G>T (p.Ala290=)
|
rs756513699
|
|
NM_012431.3(SEMA3E):c.891A>G (p.Pro297=)
|
|
|
NM_012431.3(SEMA3E):c.901G>A (p.Gly301Arg)
|
|
|
NM_012431.3(SEMA3E):c.907G>A (p.Asp303Asn)
|
|
|
NM_012431.3(SEMA3E):c.907G>C (p.Asp303His)
|
|
|
NM_012431.3(SEMA3E):c.90C>T (p.His30=)
|
|
|
NM_012431.3(SEMA3E):c.928+10T>C
|
|
|
NM_012431.3(SEMA3E):c.928+12T>G
|
|
|
NM_012431.3(SEMA3E):c.930G>A (p.Glu310=)
|
rs2115641011
|
|
NM_012431.3(SEMA3E):c.931G>A (p.Asp311Asn)
|
rs1478459253
|
|
NM_012431.3(SEMA3E):c.955G>A (p.Asp319Asn)
|
rs1788311567
|
|
NM_012431.3(SEMA3E):c.956A>G (p.Asp319Gly)
|
|
|
NM_012431.3(SEMA3E):c.957T>G (p.Asp319Glu)
|
rs763045418
|
|
NM_012431.3(SEMA3E):c.960T>A (p.His320Gln)
|
|
|
NM_012431.3(SEMA3E):c.975dup (p.Phe326fs)
|
|
|
NM_012431.3(SEMA3E):c.988A>C (p.Asn330His)
|
|
|
NM_012431.3(SEMA3E):c.995C>G (p.Thr332Ser)
|
rs1554320452
|
|
NM_012431.3(SEMA3E):c.998+15C>T
|
|
|
NM_012431.3(SEMA3E):c.998+9T>G
|
|
|
NM_012431.3(SEMA3E):c.999-12dup
|
rs1418610753
|
|
NM_012431.3(SEMA3E):c.999-19T>C
|
rs2115628543
|
|
NM_012431.3(SEMA3E):c.9C>A (p.Ser3=)
|
|
|