Unique variants in gene SEMA3C

Information The variants shown are described using the NM_006379.3 transcript reference sequence.

136 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.44G>A r.(?) p.(Cys15Tyr) g.80546054C>T Copied from the Exome Variant Server SEMA3C_000136 1/13006 1/8600 0/4406
1 c.80C>G r.(?) p.(Ala27Gly) g.80546018G>C Copied from the Exome Variant Server SEMA3C_000135 1/13006 1/8600 0/4406
1 c.90T>A r.(?) p.(Tyr30*) g.80546008A>T Copied from the Exome Variant Server SEMA3C_000134 1/13006 1/8600 0/4406
1 c.97T>C r.(?) p.(Phe33Leu) g.80546001A>G Copied from the Exome Variant Server SEMA3C_000133 2/13006 0/8600 2/4406
1 c.103+20C>A r.(=) p.(=) g.80545975G>T Copied from the Exome Variant Server SEMA3C_000132 1/13006 1/8600 0/4406
1 c.104-48T>G r.(=) p.(=) g.80458109A>C Copied from the Exome Variant Server SEMA3C_000131 1/12998 1/8598 0/4400
1 c.129A>G r.(=) p.(=) g.80458036T>C Copied from the Exome Variant Server SEMA3C_000130 2/13006 2/8600 0/4406
1 c.194G>A r.(?) p.(Arg65Gln) g.80457971C>T Copied from the Exome Variant Server SEMA3C_000129 1/13006 1/8600 0/4406
1 c.231G>A r.(=) p.(=) g.80457934C>T Copied from the Exome Variant Server SEMA3C_000128 1/13006 0/8600 1/4406
1 c.264+19C>T r.(=) p.(=) g.80457882G>A Copied from the Exome Variant Server SEMA3C_000127 2/13006 0/8600 2/4406
1 c.265-38G>A r.(=) p.(=) g.80456841C>T Copied from the Exome Variant Server SEMA3C_000126 11720/13002 7781/8596 3939/4406
1 c.265-35G>T r.(=) p.(=) g.80456838C>A Copied from the Exome Variant Server SEMA3C_000125 1/13004 1/8598 0/4406
1 c.265-27G>A r.(=) p.(=) g.80456830C>T Copied from the Exome Variant Server SEMA3C_000124 149/13004 0/8598 149/4406
1 c.317A>T r.(?) p.(Lys106Ile) g.80456751T>A Copied from the Exome Variant Server SEMA3C_000123 1/13006 0/8600 1/4406
1 c.319G>C r.(?) p.(Asp107His) g.80456749C>G Copied from the Exome Variant Server SEMA3C_000122 1/13006 1/8600 0/4406
1 c.326C>G r.(?) p.(Thr109Arg) g.80456742G>C Copied from the Exome Variant Server SEMA3C_000121 1/13006 1/8600 0/4406
1 c.327+45T>G r.(=) p.(=) g.80456696A>C Copied from the Exome Variant Server SEMA3C_000120 1/12718 1/8496 0/4222
1 c.328-42A>C r.(=) p.(=) g.80447776T>G Copied from the Exome Variant Server SEMA3C_000119 1/13006 1/8600 0/4406
1 c.328-1G>A r.spl? p.? g.80447735C>T Copied from the Exome Variant Server SEMA3C_000118 1/13006 1/8600 0/4406
1 c.330C>T r.(=) p.(=) g.80447732G>A Copied from the Exome Variant Server SEMA3C_000117 30/13006 0/8600 30/4406
1 c.347T>C r.(?) p.(Val116Ala) g.80447715A>G Copied from the Exome Variant Server SEMA3C_000116 1/13006 0/8600 1/4406
1 c.349C>T r.(?) p.(Arg117Cys) g.80447713G>A Copied from the Exome Variant Server SEMA3C_000115 1/13006 0/8600 1/4406
1 c.399C>T r.(=) p.(=) g.80447663G>A Copied from the Exome Variant Server SEMA3C_000113 1/13006 0/8600 1/4406
1 c.441A>G r.(=) p.(=) g.80447621T>C Copied from the Exome Variant Server SEMA3C_000111 3/13006 0/8600 3/4406
1 c.447+29T>C r.(=) p.(=) g.80447586A>G Copied from the Exome Variant Server SEMA3C_000109 1/13006 1/8600 0/4406
1 c.448-48A>G r.(=) p.(=) g.80440065T>C Copied from the Exome Variant Server SEMA3C_000107 1/13006 1/8600 0/4406
1 c.448-29C>T r.(=) p.(=) g.80440046G>A Copied from the Exome Variant Server SEMA3C_000114 4/13006 4/8600 0/4406
1 c.493C>T r.(?) p.(Arg165Cys) g.80439972G>A Copied from the Exome Variant Server SEMA3C_000112 2/13006 2/8600 0/4406
1 c.521C>T r.(?) p.(Thr174Met) g.80439944G>A Copied from the Exome Variant Server SEMA3C_000110 1/13006 1/8600 0/4406
1 c.538+15A>G r.(=) p.(=) g.80439912T>C Copied from the Exome Variant Server SEMA3C_000108 4/13006 0/8600 4/4406
1 c.539-34A>C r.(=) p.(=) g.80435108T>G Copied from the Exome Variant Server SEMA3C_000106 2/12956 0/8574 2/4382
1 c.539-27A>G r.(=) p.(=) g.80435101T>C Copied from the Exome Variant Server SEMA3C_000105 1/12980 0/8588 1/4392
1 c.539-22A>G r.(=) p.(=) g.80435096T>C Copied from the Exome Variant Server SEMA3C_000104 1/12988 0/8590 1/4398
1 c.539-8T>C r.(=) p.(=) g.80435082A>G Copied from the Exome Variant Server SEMA3C_000103 1/12998 0/8592 1/4406
1 c.582A>G r.(=) p.(=) g.80435031T>C Copied from the Exome Variant Server SEMA3C_000102 1/13004 1/8598 0/4406
1 c.658+11A>G r.(=) p.(=) g.80434944T>C Copied from the Exome Variant Server SEMA3C_000101 278/13004 240/8598 38/4406
1 c.658+37G>A r.(=) p.(=) g.80434918C>T Copied from the Exome Variant Server SEMA3C_000100 2126/13000 1686/8596 440/4404
1 c.658+51T>C r.(=) p.(=) g.80434904A>G Copied from the Exome Variant Server SEMA3C_000099 1/12996 0/8592 1/4404
1 c.659-19C>A r.(=) p.(=) g.80433583G>T Copied from the Exome Variant Server SEMA3C_000098 10/13006 4/8600 6/4406
1 c.664A>G r.(?) p.(Met222Val) g.80433559T>C Copied from the Exome Variant Server SEMA3C_000097 1/13006 0/8600 1/4406
1 c.688C>T r.(?) p.(Pro230Ser) g.80433535G>A Copied from the Exome Variant Server SEMA3C_000096 13/13006 0/8600 13/4406
1 c.742C>A r.(?) p.(Leu248Met) g.80433481G>T Copied from the Exome Variant Server SEMA3C_000095 1/13006 1/8600 0/4406
1 c.758G>A r.(?) p.(Arg253Lys) g.80433465C>T Copied from the Exome Variant Server SEMA3C_000094 1/13006 0/8600 1/4406
1 c.761G>A r.(?) p.(Ser254Asn) g.80433462C>T Copied from the Exome Variant Server SEMA3C_000093 5/13006 5/8600 0/4406
1 c.764C>T r.(?) p.(Thr255Met) g.80433459G>A Copied from the Exome Variant Server SEMA3C_000092 1/13006 0/8600 1/4406
1 c.765G>A r.(=) p.(=) g.80433458C>T Copied from the Exome Variant Server SEMA3C_000091 1/13006 1/8600 0/4406
1 c.772A>T r.(?) p.(Ile258Phe) g.80433451T>A Copied from the Exome Variant Server SEMA3C_000090 1/13006 0/8600 1/4406
1 c.801+9T>G r.(=) p.(=) g.80433413A>C Copied from the Exome Variant Server SEMA3C_000089 1/13006 1/8600 0/4406
1 c.801+18T>A r.(=) p.(=) g.80433404A>T Copied from the Exome Variant Server SEMA3C_000088 1/13006 0/8600 1/4406
1 c.801+21G>A r.(=) p.(=) g.80433401C>T Copied from the Exome Variant Server SEMA3C_000087 1/13006 0/8600 1/4406
1 c.801+34A>G r.(=) p.(=) g.80433388T>C Copied from the Exome Variant Server SEMA3C_000086 1/13006 0/8600 1/4406
1 c.802-45A>G r.(=) p.(=) g.80432140T>C Copied from the Exome Variant Server SEMA3C_000085 162/13006 146/8600 16/4406
1 c.802-15A>G r.(=) p.(=) g.80432110T>C Copied from the Exome Variant Server SEMA3C_000084 1/13006 0/8600 1/4406
1 c.857C>T r.(?) p.(Ala286Val) g.80432040G>A Copied from the Exome Variant Server SEMA3C_000083 1/13006 1/8600 0/4406
1 c.888C>T r.(=) p.(=) g.80432009G>A Copied from the Exome Variant Server SEMA3C_000082 2/13006 0/8600 2/4406
1 c.916+8_916+9insTC r.(=) p.(=) g.80431972_80431973insGA Copied from the Exome Variant Server SEMA3C_000081 5/12518 5/8254 0/4264
1 c.916+11A>C r.(=) p.(=) g.80431970T>G Copied from the Exome Variant Server SEMA3C_000080 5/13006 5/8600 0/4406
1 c.950G>A r.(?) p.(Arg317Lys) g.80430109C>T Copied from the Exome Variant Server SEMA3C_000079 1/12990 1/8584 0/4406
1 c.962T>C r.(?) p.(Val321Ala) g.80430097A>G Copied from the Exome Variant Server SEMA3C_000078 76/12990 69/8584 7/4406
1 c.985A>G r.(?) p.(Ser329Gly) g.80430074T>C Copied from the Exome Variant Server SEMA3C_000077 3/12984 3/8578 0/4406
1 c.986+3A>G r.spl? p.? g.80430070T>C Copied from the Exome Variant Server SEMA3C_000076 1/12988 0/8582 1/4406
1 c.986+27G>A r.(=) p.(=) g.80430046C>T Copied from the Exome Variant Server SEMA3C_000075 1/12990 1/8584 0/4406
1 c.987-9_987-4del r.spl? p.? g.80427556_80427561del Copied from the Exome Variant Server SEMA3C_000074 2/12516 1/8254 1/4262
1 c.1009G>A r.(?) p.(Val337Met) g.80427530C>T Copied from the Exome Variant Server SEMA3C_000073 65/13006 42/8600 23/4406
1 c.1035A>G r.(?) p.(Ile345Met) g.80427504T>C Copied from the Exome Variant Server SEMA3C_000072 1/13006 1/8600 0/4406
1 c.1044G>T r.(=) p.(=) g.80427495C>A Copied from the Exome Variant Server SEMA3C_000071 1185/13006 810/8600 375/4406
1 c.1054C>A r.(?) p.(Pro352Thr) g.80427485G>T Copied from the Exome Variant Server SEMA3C_000070 1/13006 1/8600 0/4406
1 c.1074G>T r.(=) p.(=) g.80427465C>A Copied from the Exome Variant Server SEMA3C_000069 12/13006 0/8600 12/4406
1 c.1096T>C r.(?) p.(Tyr366His) g.80427443A>G Copied from the Exome Variant Server SEMA3C_000068 1/13006 0/8600 1/4406
1 c.1113A>G r.(=) p.(=) g.80427426T>C Copied from the Exome Variant Server SEMA3C_000067 37/13006 0/8600 37/4406
1 c.1161G>A r.(?) p.(Met387Ile) g.80418815C>T Copied from the Exome Variant Server SEMA3C_000066 1/13006 1/8600 0/4406
1 c.1264C>T r.(?) p.(Arg422Cys) g.80418712G>A Copied from the Exome Variant Server SEMA3C_000065 1/13006 1/8600 0/4406
1 c.1268T>C r.(?) p.(Ile423Thr) g.80418708A>G Copied from the Exome Variant Server SEMA3C_000064 1/13006 1/8600 0/4406
1 c.1287T>C r.(=) p.(=) g.80418689A>G Copied from the Exome Variant Server SEMA3C_000063 2062/13006 1696/8600 366/4406
1 c.1290A>G r.(=) p.(=) g.80418686T>C Copied from the Exome Variant Server SEMA3C_000061 3/13006 3/8600 0/4406
1 c.1292A>T r.(?) p.(Lys431Met) g.80418684T>A Copied from the Exome Variant Server SEMA3C_000059 1/13006 0/8600 1/4406
1 c.1348G>A r.(?) p.(Gly450Arg) g.80418628C>T Copied from the Exome Variant Server SEMA3C_000062 1/13006 0/8600 1/4406
1 c.1352C>T r.(?) p.(Thr451Ile) g.80418624G>A Copied from the Exome Variant Server SEMA3C_000060 1/13006 1/8600 0/4406
1 c.1354+9T>A r.(=) p.(=) g.80418613A>T Copied from the Exome Variant Server SEMA3C_000058 15/13006 0/8600 15/4406
1 c.1354+49_1354+50insAGAATGTA r.(=) p.(=) g.80418572_80418573insTACATTCT Copied from the Exome Variant Server SEMA3C_000057 44/12518 5/8254 39/4264
1 c.1355-17T>C r.(=) p.(=) g.80394576A>G Copied from the Exome Variant Server SEMA3C_000056 1/13006 1/8600 0/4406
1 c.1355-15_1355-13del r.(=) p.(=) g.80394572_80394574del Copied from the Exome Variant Server SEMA3C_000055 1/12516 0/8252 1/4264
1 c.1355-8_1355-7insT r.(=) p.(=) g.80394566_80394567insA Copied from the Exome Variant Server SEMA3C_000054 60/12516 1/8252 59/4264
1 c.1357C>T r.(?) p.(Arg453Trp) g.80394557G>A Copied from the Exome Variant Server SEMA3C_000053 1/13006 0/8600 1/4406
1 c.1358G>A r.(?) p.(Arg453Gln) g.80394556C>T Copied from the Exome Variant Server SEMA3C_000052 2/13006 1/8600 1/4406
1 c.1418T>C r.(?) p.(Ile473Thr) g.80394496A>G Copied from the Exome Variant Server SEMA3C_000051 1/13006 1/8600 0/4406
1 c.1443+22A>C r.(=) p.(=) g.80394449T>G Copied from the Exome Variant Server SEMA3C_000050 880/13006 232/8600 648/4406
1 c.1443+39A>G r.(=) p.(=) g.80394432T>C Copied from the Exome Variant Server SEMA3C_000049 1/13006 1/8600 0/4406
1 c.1444-65del r.(=) p.(=) g.80391038del Copied from the Exome Variant Server SEMA3C_000048 41/11600 18/7742 23/3858
1 c.1444-31G>T r.(=) p.(=) g.80391004C>A Copied from the Exome Variant Server SEMA3C_000047 1/12564 1/8332 0/4232
1 c.1451C>G r.(?) p.(Ala484Gly) g.80390966G>C Copied from the Exome Variant Server SEMA3C_000046 1/12630 1/8380 0/4250
1 c.1485+22G>A r.(=) p.(=) g.80390910C>T Copied from the Exome Variant Server SEMA3C_000045 5/12576 5/8344 0/4232
1 c.1486-47del r.(=) p.(=) g.80387851del Copied from the Exome Variant Server SEMA3C_000044 1/12518 0/8254 1/4264
1 c.1486-37C>G r.(=) p.(=) g.80387841G>C Copied from the Exome Variant Server SEMA3C_000043 1/13006 0/8600 1/4406
1 c.1488A>G r.(=) p.(=) g.80387802T>C Copied from the Exome Variant Server SEMA3C_000042 1/13006 0/8600 1/4406
1 c.1524G>A r.(=) p.(=) g.80387766C>T Copied from the Exome Variant Server SEMA3C_000041 4322/13006 1672/8600 2650/4406
1 c.1556C>T r.(?) p.(Thr519Ile) g.80387734G>A Copied from the Exome Variant Server SEMA3C_000040 1/13006 1/8600 0/4406
1 c.1581G>A r.(=) p.(=) g.80387709C>T Copied from the Exome Variant Server SEMA3C_000039 1/13006 0/8600 1/4406
1 c.1596C>T r.(=) p.(=) g.80387694G>A Copied from the Exome Variant Server SEMA3C_000038 3/13006 1/8600 2/4406
1 c.1606G>A r.(?) p.(Gly536Ser) g.80387684C>T Copied from the Exome Variant Server SEMA3C_000037 1/13006 1/8600 0/4406
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