All transcript variants in gene SDC3

Information The variants shown are described using the NM_014654.3 transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.139-37G>A r.(=) p.(=) g.31351624C>T Copied from the Exome Variant Server SDC3_000092 1/13006 1/8600 0/4406
?/? c.139-21G>C r.(=) p.(=) g.31351608C>G Copied from the Exome Variant Server SDC3_000091 119/13006 0/8600 119/4406
?/? c.146G>A r.(?) p.(Arg49His) g.31351580C>T Copied from the Exome Variant Server SDC3_000090 1/13006 1/8600 0/4406
?/? c.165C>T r.(=) p.(=) g.31351561G>A Copied from the Exome Variant Server SDC3_000089 1/13006 1/8600 0/4406
?/? c.213C>T r.(=) p.(=) g.31351513G>A Copied from the Exome Variant Server SDC3_000088 2762/13006 2428/8600 334/4406
?/? c.216T>C r.(=) p.(=) g.31351510A>G Copied from the Exome Variant Server SDC3_000087 88/13006 10/8600 78/4406
?/? c.243G>A r.(=) p.(=) g.31351483C>T Copied from the Exome Variant Server SDC3_000086 4/13006 0/8600 4/4406
?/? c.246G>A r.(=) p.(=) g.31351480C>T Copied from the Exome Variant Server SDC3_000085 1/13006 1/8600 0/4406
?/? c.256+11C>G r.(=) p.(=) g.31351459G>C Copied from the Exome Variant Server SDC3_000084 105/13006 0/8600 105/4406
?/? c.256+23_256+28del r.(=) p.(=) g.31351442_31351447del Copied from the Exome Variant Server SDC3_000083 7/12520 0/8254 7/4266
?/? c.256+45C>T r.(=) p.(=) g.31351425G>A Copied from the Exome Variant Server SDC3_000082 3/13004 0/8598 3/4406
?/? c.257-50del r.(=) p.(=) g.31350062del Copied from the Exome Variant Server SDC3_000081 3/12268 3/8120 0/4148
?/? c.261C>T r.(=) p.(=) g.31350008G>A Copied from the Exome Variant Server SDC3_000080 2/12960 2/8582 0/4378
?/? c.286G>A r.(?) p.(Ala96Thr) g.31349983C>T Copied from the Exome Variant Server SDC3_000079 126/13002 116/8600 10/4402
?/? c.292C>T r.(?) p.(Arg98Cys) g.31349977G>A Copied from the Exome Variant Server SDC3_000078 5/13004 0/8600 5/4404
?/? c.301C>T r.(?) p.(Pro101Ser) g.31349968G>A Copied from the Exome Variant Server SDC3_000077 1/13004 1/8600 0/4404
?/? c.318G>A r.(=) p.(=) g.31349951C>T Copied from the Exome Variant Server SDC3_000076 1/13006 1/8600 0/4406
?/? c.336G>A r.(=) p.(=) g.31349933C>T Copied from the Exome Variant Server SDC3_000075 1/13006 0/8600 1/4406
?/? c.350C>T r.(?) p.(Thr117Met) g.31349919G>A Copied from the Exome Variant Server SDC3_000074 5/13006 4/8600 1/4406
?/? c.375A>G r.(=) p.(=) g.31349894T>C Copied from the Exome Variant Server SDC3_000073 2/13004 2/8600 0/4404
?/? c.388C>T r.(?) p.(Pro130Ser) g.31349881G>A Copied from the Exome Variant Server SDC3_000072 1/13004 1/8600 0/4404
?/? c.398G>A r.(?) p.(Arg133His) g.31349871C>T Copied from the Exome Variant Server SDC3_000071 2/13004 1/8600 1/4404
?/? c.424C>T r.(?) p.(Pro142Ser) g.31349845G>A Copied from the Exome Variant Server SDC3_000070 1/13000 1/8598 0/4402
?/? c.443T>A r.(?) p.(Val148Asp) g.31349826A>T Copied from the Exome Variant Server SDC3_000069 1/13006 1/8600 0/4406
?/? c.468C>T r.(=) p.(=) g.31349801G>A Copied from the Exome Variant Server SDC3_000068 1/13002 0/8598 1/4404
?/? c.474C>T r.(=) p.(=) g.31349795G>A Copied from the Exome Variant Server SDC3_000067 21/13004 0/8598 21/4406
?/? c.551C>T r.(?) p.(Ala184Val) g.31349718G>A Copied from the Exome Variant Server SDC3_000066 1/12932 0/8548 1/4384
?/? c.556G>A r.(?) p.(Ala186Thr) g.31349713C>T Copied from the Exome Variant Server SDC3_000065 1/12968 1/8572 0/4396
?/? c.565A>G r.(?) p.(Ser189Gly) g.31349704T>C Copied from the Exome Variant Server SDC3_000064 1/12992 1/8590 0/4402
?/? c.590C>T r.(?) p.(Thr197Met) g.31349679G>A Copied from the Exome Variant Server SDC3_000063 9/13006 0/8600 9/4406
?/? c.592G>A r.(?) p.(Ala198Thr) g.31349677C>T Copied from the Exome Variant Server SDC3_000062 58/13006 0/8600 58/4406
?/? c.594C>T r.(=) p.(=) g.31349675G>A Copied from the Exome Variant Server SDC3_000061 19/13006 14/8600 5/4406
?/? c.612G>A r.(=) p.(=) g.31349657C>T Copied from the Exome Variant Server SDC3_000060 1/13006 0/8600 1/4406
?/? c.621C>T r.(=) p.(=) g.31349648G>A Copied from the Exome Variant Server SDC3_000059 1/13004 1/8598 0/4406
?/? c.622G>A r.(?) p.(Val208Ile) g.31349647C>T Copied from the Exome Variant Server SDC3_000058 1997/13004 1813/8598 184/4406
?/? c.625C>T r.(?) p.(Arg209Trp) g.31349644G>A Copied from the Exome Variant Server SDC3_000056 1/13004 1/8598 0/4406
?/? c.627G>A r.(=) p.(=) g.31349642C>T Copied from the Exome Variant Server SDC3_000054 378/13004 343/8598 35/4406
?/? c.680C>A r.(?) p.(Pro227His) g.31349589G>T Copied from the Exome Variant Server SDC3_000052 2/12992 0/8590 2/4402
?/? c.694C>A r.(?) p.(Pro232Thr) g.31349575G>T Copied from the Exome Variant Server SDC3_000050 1/12992 1/8592 0/4400
?/? c.696G>A r.(=) p.(=) g.31349573C>T Copied from the Exome Variant Server SDC3_000048 1/12988 0/8588 1/4400
?/? c.708G>A r.(=) p.(=) g.31349561C>T Copied from the Exome Variant Server SDC3_000046 2/12994 0/8596 2/4398
?/? c.717G>A r.(=) p.(=) g.31349552C>T Copied from the Exome Variant Server SDC3_000044 1/12994 0/8594 1/4400
?/? c.721A>G r.(?) p.(Thr241Ala) g.31349548T>C Copied from the Exome Variant Server SDC3_000057 1/12998 1/8596 0/4402
?/? c.723C>T r.(=) p.(=) g.31349546G>A Copied from the Exome Variant Server SDC3_000055 16/12996 1/8594 15/4402
?/? c.733A>G r.(?) p.(Thr245Ala) g.31349536T>C Copied from the Exome Variant Server SDC3_000053 3/12998 0/8596 3/4402
?/? c.738C>T r.(=) p.(=) g.31349531G>A Copied from the Exome Variant Server SDC3_000051 1/12998 1/8596 0/4402
?/? c.763C>T r.(?) p.(Arg255Trp) g.31349506G>A Copied from the Exome Variant Server SDC3_000049 1/13002 1/8600 0/4402
?/? c.764G>A r.(?) p.(Arg255Gln) g.31349505C>T Copied from the Exome Variant Server SDC3_000047 1/13002 1/8600 0/4402
?/? c.785C>T r.(?) p.(Pro262Leu) g.31349484G>A Copied from the Exome Variant Server SDC3_000045 2/13000 2/8596 0/4404
?/? c.786G>A r.(=) p.(=) g.31349483C>T Copied from the Exome Variant Server SDC3_000043 1/12998 0/8596 1/4402
?/? c.788C>T r.(?) p.(Ala263Val) g.31349481G>A Copied from the Exome Variant Server SDC3_000042 1/12998 0/8596 1/4402
?/? c.828G>T r.(=) p.(=) g.31349441C>A Copied from the Exome Variant Server SDC3_000041 1/13004 0/8600 1/4404
?/? c.844G>A r.(?) p.(Ala282Thr) g.31349425C>T Copied from the Exome Variant Server SDC3_000040 32/13000 0/8596 32/4404
?/? c.870+33C>T r.(=) p.(=) g.31349366G>A Copied from the Exome Variant Server SDC3_000039 3/12530 3/8302 0/4228
?/? c.870+34G>A r.(=) p.(=) g.31349365C>T Copied from the Exome Variant Server SDC3_000038 67/12366 63/8208 4/4158
?/? c.870+47T>C r.(=) p.(=) g.31349352A>G Copied from the Exome Variant Server SDC3_000037 1/12200 1/8084 0/4116
?/? c.871-51G>A r.(=) p.(=) g.31347486C>T Copied from the Exome Variant Server SDC3_000036 1/13006 1/8600 0/4406
?/? c.871-41G>A r.(=) p.(=) g.31347476C>T Copied from the Exome Variant Server SDC3_000035 1/13006 1/8600 0/4406
?/? c.871-4G>T r.spl? p.? g.31347439C>A Copied from the Exome Variant Server SDC3_000034 12/13006 12/8600 0/4406
?/? c.907G>A r.(?) p.(Asp303Asn) g.31347399C>T Copied from the Exome Variant Server SDC3_000033 2932/13006 1565/8600 1367/4406
?/? c.912G>A r.(=) p.(=) g.31347394C>T Copied from the Exome Variant Server SDC3_000032 9/13006 0/8600 9/4406
?/? c.923C>T r.(?) p.(Pro308Leu) g.31347383G>A Copied from the Exome Variant Server SDC3_000031 1/13006 1/8600 0/4406
?/? c.924G>A r.(=) p.(=) g.31347382C>T Copied from the Exome Variant Server SDC3_000030 2/13006 1/8600 1/4406
?/? c.939C>G r.(=) p.(=) g.31347367G>C Copied from the Exome Variant Server SDC3_000029 1/13006 1/8600 0/4406
?/? c.948C>T r.(=) p.(=) g.31347358G>A Copied from the Exome Variant Server SDC3_000028 2/13006 0/8600 2/4406
?/? c.951C>G r.(?) p.(Phe317Leu) g.31347355G>C Copied from the Exome Variant Server SDC3_000027 1/13006 0/8600 1/4406
?/? c.968A>C r.(?) p.(Glu323Ala) g.31347338T>G Copied from the Exome Variant Server SDC3_000026 4/13006 3/8600 1/4406
?/? c.986C>T r.(?) p.(Thr329Ile) g.31347320G>A Copied from the Exome Variant Server SDC3_000025 118/13006 37/8600 81/4406
?/? c.993T>C r.(=) p.(=) g.31347313A>G Copied from the Exome Variant Server SDC3_000024 1/13006 0/8600 1/4406
?/? c.1028C>T r.(?) p.(Ala343Val) g.31347278G>A Copied from the Exome Variant Server SDC3_000023 1/13006 1/8600 0/4406
?/? c.1063C>T r.(?) p.(Arg355Cys) g.31347243G>A Copied from the Exome Variant Server SDC3_000022 1/13006 1/8600 0/4406
?/? c.1067C>T r.(?) p.(Pro356Leu) g.31347239G>A Copied from the Exome Variant Server SDC3_000021 1/13006 0/8600 1/4406
?/? c.1068G>A r.(=) p.(=) g.31347238C>T Copied from the Exome Variant Server SDC3_000020 4/13006 4/8600 0/4406
?/? c.1095C>T r.(=) p.(=) g.31347211G>A Copied from the Exome Variant Server SDC3_000019 2/13006 2/8600 0/4406
?/? c.1100C>T r.(?) p.(Ser367Leu) g.31347206G>A Copied from the Exome Variant Server SDC3_000018 1/13006 0/8600 1/4406
?/? c.1158C>T r.(=) p.(=) g.31347148G>A Copied from the Exome Variant Server SDC3_000017 32/13006 0/8600 32/4406
?/? c.1162+13G>A r.(=) p.(=) g.31347131C>T Copied from the Exome Variant Server SDC3_000016 1/13006 1/8600 0/4406
?/? c.1163-34T>G r.(=) p.(=) g.31346258A>C Copied from the Exome Variant Server SDC3_000015 1/13006 1/8600 0/4406
?/? c.1163-19G>T r.(=) p.(=) g.31346243C>A Copied from the Exome Variant Server SDC3_000014 1/13006 0/8600 1/4406
?/? c.1188C>T r.(=) p.(=) g.31346199G>A Copied from the Exome Variant Server SDC3_000013 1088/13006 980/8600 108/4406
?/? c.1189G>A r.(?) p.(Ala397Thr) g.31346198C>T Copied from the Exome Variant Server SDC3_000012 4/13006 2/8600 2/4406
?/? c.1191C>G r.(=) p.(=) g.31346196G>C Copied from the Exome Variant Server SDC3_000011 1/13006 1/8600 0/4406
?/? c.1195T>G r.(?) p.(Phe399Val) g.31346192A>C Copied from the Exome Variant Server SDC3_000010 1/13006 1/8600 0/4406
?/? c.1218G>A r.(=) p.(=) g.31346169C>T Copied from the Exome Variant Server SDC3_000009 1/13006 1/8600 0/4406
?/? c.1221C>T r.(=) p.(=) g.31346166G>A Copied from the Exome Variant Server SDC3_000008 1/13006 0/8600 1/4406
?/? c.1263G>A r.(=) p.(=) g.31346124C>T Copied from the Exome Variant Server SDC3_000007 1/13006 1/8600 0/4406
?/? c.1271C>A r.(?) p.(Pro424His) g.31346116G>T Copied from the Exome Variant Server SDC3_000006 1/13006 1/8600 0/4406
?/? c.1284C>T r.(=) p.(=) g.31346103G>A Copied from the Exome Variant Server SDC3_000005 1/13006 1/8600 0/4406
?/? c.1285G>A r.(?) p.(Val429Ile) g.31346102C>T Copied from the Exome Variant Server SDC3_000004 12/13006 12/8600 0/4406
?/? c.1299G>A r.(=) p.(=) g.31346088C>T Copied from the Exome Variant Server SDC3_000003 1/13006 0/8600 1/4406
?/? c.*1T>C r.(=) p.(=) g.31346057A>G Copied from the Exome Variant Server SDC3_000002 165/13006 37/8600 128/4406
?/? c.*31C>A r.(=) p.(=) g.31346027G>T Copied from the Exome Variant Server SDC3_000001 3/13006 0/8600 3/4406
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