All transcript variants in gene SH3GL3

Information The variants shown are described using the NM_003027.3 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.45+14_45+15insAGGAGGGA r.(=) p.(=) g.84116344_84116345insAGGAGGGA Copied from the Exome Variant Server SH3GL3_000001 12/8248 12/5548 0/2700
?/? c.45+43247G>A r.(=) p.(=) g.84159577G>A Copied from the Exome Variant Server SH3GL3_000002 1/13006 0/8600 1/4406
?/? c.45+43248A>T r.(=) p.(=) g.84159578A>T Copied from the Exome Variant Server SH3GL3_000003 1/13006 1/8600 0/4406
?/? c.45+43282A>G r.(=) p.(=) g.84159612A>G Copied from the Exome Variant Server SH3GL3_000004 1/13006 1/8600 0/4406
?/? c.45+43349G>A r.(=) p.(=) g.84159679G>A Copied from the Exome Variant Server SH3GL3_000005 1/13006 0/8600 1/4406
?/? c.45+43375C>T r.(=) p.(=) g.84159705C>T Copied from the Exome Variant Server SH3GL3_000006 3/13006 2/8600 1/4406
?/? c.69T>C r.(=) p.(=) g.84228028T>C Copied from the Exome Variant Server SH3GL3_000007 5/13004 0/8598 5/4406
?/? c.90C>T r.(=) p.(=) g.84228049C>T Copied from the Exome Variant Server SH3GL3_000008 1/13004 1/8598 0/4406
?/? c.91G>A r.(?) p.(Asp31Asn) g.84228050G>A Copied from the Exome Variant Server SH3GL3_000009 1/13004 1/8598 0/4406
?/? c.104A>G r.(?) p.(Asp35Gly) g.84228063A>G Copied from the Exome Variant Server SH3GL3_000010 1/13004 1/8598 0/4406
?/? c.114+13T>C r.(=) p.(=) g.84228086T>C Copied from the Exome Variant Server SH3GL3_000011 1/13004 1/8598 0/4406
?/? c.114+17A>G r.(=) p.(=) g.84228090A>G Copied from the Exome Variant Server SH3GL3_000012 5/13004 0/8598 5/4406
?/? c.114+18T>C r.(=) p.(=) g.84228091T>C Copied from the Exome Variant Server SH3GL3_000013 1/13004 0/8598 1/4406
?/? c.187+22G>C r.(=) p.(=) g.84233980G>C Copied from the Exome Variant Server SH3GL3_000014 1/12996 1/8596 0/4400
?/? c.188-14A>T r.(=) p.(=) g.84237267A>T Copied from the Exome Variant Server SH3GL3_000015 1/13006 1/8600 0/4406
?/? c.188-13C>T r.(=) p.(=) g.84237268C>T Copied from the Exome Variant Server SH3GL3_000016 2/13006 0/8600 2/4406
?/? c.249C>T r.(=) p.(=) g.84237342C>T Copied from the Exome Variant Server SH3GL3_000017 1/13006 1/8600 0/4406
?/? c.257A>G r.(?) p.(Tyr86Cys) g.84237350A>G Copied from the Exome Variant Server SH3GL3_000018 1/13006 1/8600 0/4406
?/? c.261G>A r.(=) p.(=) g.84237354G>A Copied from the Exome Variant Server SH3GL3_000019 2/13006 2/8600 0/4406
?/? c.331+29G>T r.(=) p.(=) g.84237453G>T Copied from the Exome Variant Server SH3GL3_000020 1/13006 1/8600 0/4406
?/? c.331+32G>C r.(=) p.(=) g.84237456G>C Copied from the Exome Variant Server SH3GL3_000021 574/13006 518/8600 56/4406
?/? c.331+44A>G r.(=) p.(=) g.84237468A>G Copied from the Exome Variant Server SH3GL3_000022 1/13006 1/8600 0/4406
?/? c.332-35C>G r.(=) p.(=) g.84241282C>G Copied from the Exome Variant Server SH3GL3_000023 488/13004 371/8598 117/4406
?/? c.332-14G>A r.(=) p.(=) g.84241303G>A Copied from the Exome Variant Server SH3GL3_000024 1/13006 1/8600 0/4406
?/? c.332-9C>G r.(=) p.(=) g.84241308C>G Copied from the Exome Variant Server SH3GL3_000025 1/13006 0/8600 1/4406
?/? c.343A>G r.(?) p.(Ile115Val) g.84241328A>G Copied from the Exome Variant Server SH3GL3_000026 1/13006 0/8600 1/4406
?/? c.378G>A r.(=) p.(=) g.84241363G>A Copied from the Exome Variant Server SH3GL3_000027 1/13006 0/8600 1/4406
?/? c.475del r.(?) p.(Lys160Serfs*16) g.84245344del Copied from the Exome Variant Server SH3GL3_000028 25/12518 21/8254 4/4264
?/? c.540C>T r.(=) p.(=) g.84245409C>T Copied from the Exome Variant Server SH3GL3_000029 6/13006 0/8600 6/4406
?/? c.541G>A r.(?) p.(Glu181Lys) g.84245410G>A Copied from the Exome Variant Server SH3GL3_000031 1/13006 0/8600 1/4406
?/? c.546A>G r.(=) p.(=) g.84245415A>G Copied from the Exome Variant Server SH3GL3_000033 8/13006 8/8600 0/4406
?/? c.624+3A>T r.spl? p.? g.84245496A>T Copied from the Exome Variant Server SH3GL3_000030 1/13006 1/8600 0/4406
?/? c.624+48A>G r.(=) p.(=) g.84245541A>G Copied from the Exome Variant Server SH3GL3_000032 1/13000 1/8600 0/4400
?/? c.648T>C r.(=) p.(=) g.84255758T>C Copied from the Exome Variant Server SH3GL3_000034 681/13006 510/8600 171/4406
?/? c.656T>C r.(?) p.(Ile219Thr) g.84255766T>C Copied from the Exome Variant Server SH3GL3_000035 1/13006 1/8600 0/4406
?/? c.667T>A r.(?) p.(Leu223Ile) g.84255777T>A Copied from the Exome Variant Server SH3GL3_000036 1/13006 0/8600 1/4406
?/? c.676C>T r.(?) p.(His226Tyr) g.84255786C>T Copied from the Exome Variant Server SH3GL3_000037 1/13006 1/8600 0/4406
?/? c.728+14C>T r.(=) p.(=) g.84255852C>T Copied from the Exome Variant Server SH3GL3_000038 1/13006 1/8600 0/4406
?/? c.728+15G>A r.(=) p.(=) g.84255853G>A Copied from the Exome Variant Server SH3GL3_000039 1/13006 0/8600 1/4406
?/? c.728+42G>A r.(=) p.(=) g.84255880G>A Copied from the Exome Variant Server SH3GL3_000041 1/13004 0/8598 1/4406
?/? c.729-46G>C r.(=) p.(=) g.84257368G>C Copied from the Exome Variant Server SH3GL3_000043 2/13006 0/8600 2/4406
?/? c.729-35C>G r.(=) p.(=) g.84257379C>G Copied from the Exome Variant Server SH3GL3_000045 1/13006 1/8600 0/4406
?/? c.729-15C>T r.(=) p.(=) g.84257399C>T Copied from the Exome Variant Server SH3GL3_000047 2/13006 2/8600 0/4406
?/? c.753C>T r.(=) p.(=) g.84257438C>T Copied from the Exome Variant Server SH3GL3_000048 1/13006 0/8600 1/4406
?/? c.758G>A r.(?) p.(Arg253Gln) g.84257443G>A Copied from the Exome Variant Server SH3GL3_000049 1/13006 0/8600 1/4406
?/? c.759A>G r.(=) p.(=) g.84257444A>G Copied from the Exome Variant Server SH3GL3_000050 1/13006 0/8600 1/4406
?/? c.762A>C r.(?) p.(Glu254Asp) g.84257447A>C Copied from the Exome Variant Server SH3GL3_000051 30/13006 0/8600 30/4406
?/? c.808G>A r.(?) p.(Val270Ile) g.84257493G>A Copied from the Exome Variant Server SH3GL3_000052 42/13006 37/8600 5/4406
?/? c.828G>A r.(=) p.(=) g.84257513G>A Copied from the Exome Variant Server SH3GL3_000053 1/13006 1/8600 0/4406
?/? c.839-11C>G r.(=) p.(=) g.84286823C>G Copied from the Exome Variant Server SH3GL3_000054 1/13006 1/8600 0/4406
?/? c.871C>T r.(?) p.(Arg291Cys) g.84286866C>T Copied from the Exome Variant Server SH3GL3_000055 1/13006 1/8600 0/4406
?/? c.883G>A r.(?) p.(Asp295Asn) g.84286878G>A Copied from the Exome Variant Server SH3GL3_000056 1/13006 1/8600 0/4406
?/? c.901C>G r.(?) p.(Gln301Glu) g.84286896C>G Copied from the Exome Variant Server SH3GL3_000057 15/13006 1/8600 14/4406
?/? c.949C>G r.(?) p.(Gln317Glu) g.84286944C>G Copied from the Exome Variant Server SH3GL3_000058 1/13006 1/8600 0/4406
?/? c.984C>T r.(=) p.(=) g.84286979C>T Copied from the Exome Variant Server SH3GL3_000059 1/13006 1/8600 0/4406
?/? c.985G>A r.(?) p.(Gly329Arg) g.84286980G>A Copied from the Exome Variant Server SH3GL3_000060 1/13006 1/8600 0/4406
?/? c.1015G>A r.(?) p.(Val339Met) g.84287010G>A Copied from the Exome Variant Server SH3GL3_000040 1/13006 0/8600 1/4406
?/? c.*12A>G r.(=) p.(=) g.84287051A>G Copied from the Exome Variant Server SH3GL3_000042 1/13006 1/8600 0/4406
?/? c.*30C>T r.(=) p.(=) g.84287069C>T Copied from the Exome Variant Server SH3GL3_000044 1/13006 1/8600 0/4406
?/? c.*40A>G r.(=) p.(=) g.84287079A>G Copied from the Exome Variant Server SH3GL3_000046 2/13006 2/8600 0/4406
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