All transcript variants in gene SEMA3E

Information The variants shown are described using the NM_012431.2 transcript reference sequence.

140 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-28C>A r.(=) p.(=) g.83277886G>T Copied from the Exome Variant Server SEMA3E_000139 20/13006 0/8600 20/4406
?/? c.15G>A r.(=) p.(=) g.83277844C>T Copied from the Exome Variant Server SEMA3E_000138 3/13006 0/8600 3/4406
?/? c.30G>A r.(=) p.(=) g.83277829C>T Copied from the Exome Variant Server SEMA3E_000137 1/13006 0/8600 1/4406
?/? c.115+25T>C r.(=) p.(=) g.83277719A>G Copied from the Exome Variant Server SEMA3E_000136 1/13004 0/8598 1/4406
?/? c.115+43del r.(=) p.(=) g.83277701del Copied from the Exome Variant Server SEMA3E_000135 2987/12492 1947/8244 1040/4248
?/? c.115+43dup r.(=) p.(=) g.83277701dup Copied from the Exome Variant Server SEMA3E_000134 1547/12492 852/8244 695/4248
?/? c.115+43_115+44del r.(=) p.(=) g.83277700_83277701del Copied from the Exome Variant Server SEMA3E_000140 204/12492 126/8244 78/4248
?/? c.116-51G>T r.(=) p.(=) g.83119641C>A Copied from the Exome Variant Server SEMA3E_000133 87/13002 1/8598 86/4404
?/? c.116-18T>C r.(=) p.(=) g.83119608A>G Copied from the Exome Variant Server SEMA3E_000132 1/13004 1/8598 0/4406
?/? c.155C>T r.(?) p.(Pro52Leu) g.83119551G>A Copied from the Exome Variant Server SEMA3E_000131 1/13006 1/8600 0/4406
?/? c.167T>C r.(?) p.(Leu56Pro) g.83119539A>G Copied from the Exome Variant Server SEMA3E_000130 3/13006 3/8600 0/4406
?/? c.186G>T r.(=) p.(=) g.83119520C>A Copied from the Exome Variant Server SEMA3E_000129 1/13006 1/8600 0/4406
?/? c.213C>T r.(=) p.(=) g.83119493G>A Copied from the Exome Variant Server SEMA3E_000128 1/13006 1/8600 0/4406
?/? c.214G>C r.(?) p.(Val72Leu) g.83119492C>G Copied from the Exome Variant Server SEMA3E_000127 1/13006 1/8600 0/4406
?/? c.264C>T r.(=) p.(=) g.83119442G>A Copied from the Exome Variant Server SEMA3E_000126 2/13006 1/8600 1/4406
?/? c.267C>T r.(=) p.(=) g.83119439G>A Copied from the Exome Variant Server SEMA3E_000125 1/13006 0/8600 1/4406
?/? c.269A>G r.(?) p.(Tyr90Cys) g.83119437T>C Copied from the Exome Variant Server SEMA3E_000124 1/13006 0/8600 1/4406
?/? c.277-37T>C r.(=) p.(=) g.83098655A>G Copied from the Exome Variant Server SEMA3E_000123 1/12990 1/8586 0/4404
?/? c.287C>T r.(?) p.(Pro96Leu) g.83098608G>A Copied from the Exome Variant Server SEMA3E_000122 3/12994 3/8590 0/4404
?/? c.305T>C r.(?) p.(Met102Thr) g.83098590A>G Copied from the Exome Variant Server SEMA3E_000121 1/12998 1/8594 0/4404
?/? c.336+47T>G r.(=) p.(=) g.83098512A>C Copied from the Exome Variant Server SEMA3E_000120 1/12990 1/8586 0/4404
?/? c.337-51G>T r.(=) p.(=) g.83095968C>A Copied from the Exome Variant Server SEMA3E_000119 5487/13006 4254/8600 1233/4406
?/? c.337-50A>C r.(=) p.(=) g.83095967T>G Copied from the Exome Variant Server SEMA3E_000118 1/13006 0/8600 1/4406
?/? c.337-38T>C r.(=) p.(=) g.83095955A>G Copied from the Exome Variant Server SEMA3E_000117 4661/13006 2835/8600 1826/4406
?/? c.337-11del r.(=) p.(=) g.83095928del Copied from the Exome Variant Server SEMA3E_000116 17/12518 16/8254 1/4264
?/? c.337-11dup r.(=) p.(=) g.83095928dup Copied from the Exome Variant Server SEMA3E_000115 2/12518 2/8254 0/4264
?/? c.355G>C r.(?) p.(Val119Leu) g.83095899C>G Copied from the Exome Variant Server SEMA3E_000114 3/13006 1/8600 2/4406
?/? c.456+16C>T r.(=) p.(=) g.83095782G>A Copied from the Exome Variant Server SEMA3E_000113 1/13006 0/8600 1/4406
?/? c.456+21C>T r.(=) p.(=) g.83095777G>A Copied from the Exome Variant Server SEMA3E_000112 7/13006 7/8600 0/4406
?/? c.456+35A>G r.(=) p.(=) g.83095763T>C Copied from the Exome Variant Server SEMA3E_000111 1/13006 1/8600 0/4406
?/? c.456+49C>A r.(=) p.(=) g.83095749G>T Copied from the Exome Variant Server SEMA3E_000110 3/13006 3/8600 0/4406
?/? c.479C>T r.(?) p.(Ser160Leu) g.83047777G>A Copied from the Exome Variant Server SEMA3E_000109 3/13006 3/8600 0/4406
?/? c.511C>T r.(?) p.(Pro171Ser) g.83047745G>A Copied from the Exome Variant Server SEMA3E_000108 1/13006 1/8600 0/4406
?/? c.550+1G>A r.spl? p.? g.83047705C>T Copied from the Exome Variant Server SEMA3E_000107 1/13006 1/8600 0/4406
?/? c.550+14C>T r.(=) p.(=) g.83047692G>A Copied from the Exome Variant Server SEMA3E_000106 1/13006 0/8600 1/4406
?/? c.550+40G>A r.(=) p.(=) g.83047666C>T Copied from the Exome Variant Server SEMA3E_000105 6345/13002 5005/8598 1340/4404
?/? c.551-34T>C r.(=) p.(=) g.83037837A>G Copied from the Exome Variant Server SEMA3E_000104 1/13004 0/8600 1/4404
?/? c.551-14A>G r.(=) p.(=) g.83037817T>C Copied from the Exome Variant Server SEMA3E_000103 2/13004 0/8600 2/4404
?/? c.551-12G>A r.(=) p.(=) g.83037815C>T Copied from the Exome Variant Server SEMA3E_000101 1/13006 0/8600 1/4406
?/? c.551-11C>T r.(=) p.(=) g.83037814G>A Copied from the Exome Variant Server SEMA3E_000099 1/13006 1/8600 0/4406
?/? c.561G>C r.(?) p.(Leu187Phe) g.83037793C>G Copied from the Exome Variant Server SEMA3E_000102 1/13006 1/8600 0/4406
?/? c.603G>T r.(=) p.(=) g.83037751C>A Copied from the Exome Variant Server SEMA3E_000100 6004/13006 5054/8600 950/4406
?/? c.610C>G r.(?) p.(Arg204Gly) g.83037744G>C Copied from the Exome Variant Server SEMA3E_000098 2/13006 2/8600 0/4406
?/? c.623G>C r.(?) p.(Arg208Pro) g.83037731C>G Copied from the Exome Variant Server SEMA3E_000097 1452/13006 1106/8600 346/4406
?/? c.658C>T r.(?) p.(Arg220Cys) g.83037696G>A Copied from the Exome Variant Server SEMA3E_000096 1/13006 1/8600 0/4406
?/? c.659G>A r.(?) p.(Arg220His) g.83037695C>T Copied from the Exome Variant Server SEMA3E_000095 3/13006 3/8600 0/4406
?/? c.671-47A>T r.(=) p.(=) g.83036602T>A Copied from the Exome Variant Server SEMA3E_000094 5984/12996 5039/8594 945/4402
?/? c.671-38A>G r.(=) p.(=) g.83036593T>C Copied from the Exome Variant Server SEMA3E_000093 1/13000 0/8596 1/4404
?/? c.671-19C>A r.(=) p.(=) g.83036574G>T Copied from the Exome Variant Server SEMA3E_000092 1/13006 1/8600 0/4406
?/? c.671-10G>A r.(=) p.(=) g.83036565C>T Copied from the Exome Variant Server SEMA3E_000091 1/13006 1/8600 0/4406
?/? c.688T>G r.(?) p.(Ser230Ala) g.83036538A>C Copied from the Exome Variant Server SEMA3E_000090 1/13006 1/8600 0/4406
?/? c.726C>T r.(=) p.(=) g.83036500G>A Copied from the Exome Variant Server SEMA3E_000089 2/13006 0/8600 2/4406
?/? c.738C>A r.(?) p.(Phe246Leu) g.83036488G>T Copied from the Exome Variant Server SEMA3E_000088 3/13006 3/8600 0/4406
?/? c.765A>C r.(=) p.(=) g.83036461T>G Copied from the Exome Variant Server SEMA3E_000087 1/13006 1/8600 0/4406
?/? c.813+44T>C r.(=) p.(=) g.83036369A>G Copied from the Exome Variant Server SEMA3E_000086 1/13006 0/8600 1/4406
?/? c.813+46G>C r.(=) p.(=) g.83036367C>G Copied from the Exome Variant Server SEMA3E_000085 5987/13006 5054/8600 933/4406
?/? c.814-44G>A r.(=) p.(=) g.83035419C>T Copied from the Exome Variant Server SEMA3E_000084 54/13006 50/8600 4/4406
?/? c.814-23T>A r.(=) p.(=) g.83035398A>T Copied from the Exome Variant Server SEMA3E_000083 2/13006 0/8600 2/4406
?/? c.855C>T r.(=) p.(=) g.83035334G>A Copied from the Exome Variant Server SEMA3E_000082 1/13006 1/8600 0/4406
?/? c.886G>T r.(?) p.(Val296Leu) g.83035303C>A Copied from the Exome Variant Server SEMA3E_000081 1/13006 0/8600 1/4406
?/? c.900T>C r.(=) p.(=) g.83035289A>G Copied from the Exome Variant Server SEMA3E_000080 156/13006 2/8600 154/4406
?/? c.906T>A r.(=) p.(=) g.83035283A>T Copied from the Exome Variant Server SEMA3E_000079 1/13006 0/8600 1/4406
?/? c.928+37T>C r.(=) p.(=) g.83035224A>G Copied from the Exome Variant Server SEMA3E_000078 1/13006 1/8600 0/4406
?/? c.928+45C>T r.(=) p.(=) g.83035216G>A Copied from the Exome Variant Server SEMA3E_000077 1/13006 1/8600 0/4406
?/? c.928+46T>G r.(=) p.(=) g.83035215A>C Copied from the Exome Variant Server SEMA3E_000076 1/13006 1/8600 0/4406
?/? c.929-64A>C r.(=) p.(=) g.83034899T>G Copied from the Exome Variant Server SEMA3E_000075 2154/4566 1866/3182 288/1384
?/? c.932A>G r.(?) p.(Asp311Gly) g.83034832T>C Copied from the Exome Variant Server SEMA3E_000074 1/13006 1/8600 0/4406
?/? c.933C>T r.(=) p.(=) g.83034831G>A Copied from the Exome Variant Server SEMA3E_000073 1/13006 1/8600 0/4406
?/? c.951C>G r.(=) p.(=) g.83034813G>C Copied from the Exome Variant Server SEMA3E_000072 1/13006 1/8600 0/4406
?/? c.998+12A>T r.(=) p.(=) g.83034754T>A Copied from the Exome Variant Server SEMA3E_000071 5982/13006 5047/8600 935/4406
?/? c.998+40A>G r.(=) p.(=) g.83034726T>C Copied from the Exome Variant Server SEMA3E_000070 2/13004 2/8600 0/4404
?/? c.998+54G>A r.(=) p.(=) g.83034712C>T Copied from the Exome Variant Server SEMA3E_000069 2/4566 2/3182 0/1384
?/? c.998+62C>A r.(=) p.(=) g.83034704G>T Copied from the Exome Variant Server SEMA3E_000068 1/4566 0/3182 1/1384
?/? c.999-28G>T r.(=) p.(=) g.83032120C>A Copied from the Exome Variant Server SEMA3E_000067 35/13002 31/8596 4/4406
?/? c.999-16T>C r.(=) p.(=) g.83032108A>G Copied from the Exome Variant Server SEMA3E_000066 3/13004 3/8598 0/4406
?/? c.999-12T>C r.(=) p.(=) g.83032104A>G Copied from the Exome Variant Server SEMA3E_000065 2/13002 0/8596 2/4406
?/? c.999-10T>C r.(=) p.(=) g.83032102A>G Copied from the Exome Variant Server SEMA3E_000064 1/13002 1/8596 0/4406
?/? c.1062C>T r.(=) p.(=) g.83032029G>A Copied from the Exome Variant Server SEMA3E_000063 3/13006 3/8600 0/4406
?/? c.1076A>G r.(?) p.(His359Arg) g.83032015T>C Copied from the Exome Variant Server SEMA3E_000062 2/13006 2/8600 0/4406
?/? c.1143+41A>G r.(=) p.(=) g.83031907T>C Copied from the Exome Variant Server SEMA3E_000061 12605/12992 8594/8596 4011/4396
?/? c.1146T>C r.(=) p.(=) g.83029564A>G Copied from the Exome Variant Server SEMA3E_000060 1/13006 1/8600 0/4406
?/? c.1147G>T r.(?) p.(Ala383Ser) g.83029563C>A Copied from the Exome Variant Server SEMA3E_000059 2/13006 0/8600 2/4406
?/? c.1173C>T r.(=) p.(=) g.83029537G>A Copied from the Exome Variant Server SEMA3E_000058 1/13006 1/8600 0/4406
?/? c.1208G>A r.(?) p.(Arg403Gln) g.83029502C>T Copied from the Exome Variant Server SEMA3E_000057 1/13006 1/8600 0/4406
?/? c.1241C>A r.(?) p.(Ala414Asp) g.83029469G>T Copied from the Exome Variant Server SEMA3E_000056 1/13006 0/8600 1/4406
?/? c.1272G>A r.(=) p.(=) g.83029438C>T Copied from the Exome Variant Server SEMA3E_000054 4397/13006 3830/8600 567/4406
?/? c.1318C>G r.(?) p.(Arg440Gly) g.83029392G>C Copied from the Exome Variant Server SEMA3E_000052 1/13006 0/8600 1/4406
?/? c.1341A>G r.(=) p.(=) g.83029369T>C Copied from the Exome Variant Server SEMA3E_000051 1/13006 1/8600 0/4406
?/? c.1348G>A r.(?) p.(Val450Ile) g.83029362C>T Copied from the Exome Variant Server SEMA3E_000048 1/13006 1/8600 0/4406
?/? c.1366+11G>A r.(=) p.(=) g.83029333C>T Copied from the Exome Variant Server SEMA3E_000047 2/13006 2/8600 0/4406
?/? c.1366+41C>T r.(=) p.(=) g.83029303G>A Copied from the Exome Variant Server SEMA3E_000055 759/13006 7/8600 752/4406
?/? c.1367-56_1367-55insTT r.(=) p.(=) g.83026100_83026101insAA Copied from the Exome Variant Server SEMA3E_000053 6412/12334 5481/8142 931/4192
?/? c.1367-49C>T r.(=) p.(=) g.83026094G>A Copied from the Exome Variant Server SEMA3E_000050 1/12936 0/8562 1/4374
?/? c.1458+28_1458+29insA r.(=) p.(=) g.83025925_83025926insT Copied from the Exome Variant Server SEMA3E_000049 51/12482 47/8230 4/4252
?/? c.1458+40C>G r.(=) p.(=) g.83025914G>C Copied from the Exome Variant Server SEMA3E_000046 1/12958 1/8574 0/4384
?/? c.1480A>G r.(?) p.(Met494Val) g.83023633T>C Copied from the Exome Variant Server SEMA3E_000045 1/13002 1/8596 0/4406
?/? c.1485G>A r.(=) p.(=) g.83023628C>T Copied from the Exome Variant Server SEMA3E_000044 1/13002 1/8596 0/4406
?/? c.1498C>T r.(?) p.(Arg500Trp) g.83023615G>A Copied from the Exome Variant Server SEMA3E_000043 1/13000 1/8594 0/4406
?/? c.1500+42T>C r.(=) p.(=) g.83023571A>G Copied from the Exome Variant Server SEMA3E_000042 1/13002 1/8596 0/4406
?/? c.1501-36C>T r.(=) p.(=) g.83022073G>A Copied from the Exome Variant Server SEMA3E_000041 1/13006 1/8600 0/4406
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