All transcript variants in gene SCD5

Information The variants shown are described using the NM_024906.2 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.79T>C r.(?) p.(Ser27Pro) g.83719612A>G Copied from the Exome Variant Server SCD5_000054 1/12990 1/8588 0/4402
?/? c.86G>A r.(?) p.(Gly29Asp) g.83719605C>T Copied from the Exome Variant Server SCD5_000053 19/12990 0/8590 19/4400
?/? c.87C>T r.(=) p.(=) g.83719604G>A Copied from the Exome Variant Server SCD5_000052 30/12990 0/8590 30/4400
?/? c.98C>T r.(?) p.(Pro33Leu) g.83719593G>A Copied from the Exome Variant Server SCD5_000051 155/12992 7/8592 148/4400
?/? c.101A>C r.(?) p.(Glu34Ala) g.83719590T>G Copied from the Exome Variant Server SCD5_000050 2/12988 0/8590 2/4398
?/? c.125G>C r.(?) p.(Arg42Pro) g.83719566C>G Copied from the Exome Variant Server SCD5_000049 1/13006 0/8600 1/4406
?/? c.138C>T r.(=) p.(=) g.83719553G>A Copied from the Exome Variant Server SCD5_000048 1/13006 1/8600 0/4406
?/? c.144G>A r.(=) p.(=) g.83719547C>T Copied from the Exome Variant Server SCD5_000047 39/13006 0/8600 39/4406
?/? c.157A>G r.(?) p.(Met53Val) g.83719534T>C Copied from the Exome Variant Server SCD5_000046 1/13006 1/8600 0/4406
?/? c.212A>G r.(?) p.(Lys71Arg) g.83719479T>C Copied from the Exome Variant Server SCD5_000045 2/13006 0/8600 2/4406
?/? c.223C>G r.(?) p.(Leu75Val) g.83719468G>C Copied from the Exome Variant Server SCD5_000044 1/13006 1/8600 0/4406
?/? c.232+8C>G r.(=) p.(=) g.83719451G>C Copied from the Exome Variant Server SCD5_000043 1/13002 0/8600 1/4402
?/? c.232+23G>C r.(=) p.(=) g.83719436C>G Copied from the Exome Variant Server SCD5_000042 1/12974 1/8584 0/4390
?/? c.232+29C>T r.(=) p.(=) g.83719430G>A Copied from the Exome Variant Server SCD5_000041 8/12962 0/8578 8/4384
?/? c.232+44841C>T r.(=) p.(=) g.83674618G>A Copied from the Exome Variant Server SCD5_000040 7/10300 1/7164 6/3136
?/? c.232+44842G>A r.(=) p.(=) g.83674617C>T Copied from the Exome Variant Server SCD5_000039 2/10300 1/7164 1/3136
?/? c.232+44857G>A r.(=) p.(=) g.83674602C>T Copied from the Exome Variant Server SCD5_000038 4/10300 4/7164 0/3136
?/? c.232+44939C>T r.(=) p.(=) g.83674520G>A Copied from the Exome Variant Server SCD5_000037 20/10300 0/7164 20/3136
?/? c.232+44985C>T r.(=) p.(=) g.83674474G>A Copied from the Exome Variant Server SCD5_000036 1/10300 1/7164 0/3136
?/? c.233-48G>A r.(=) p.(=) g.83626614C>T Copied from the Exome Variant Server SCD5_000035 33/13006 31/8600 2/4406
?/? c.233-37G>T r.(=) p.(=) g.83626603C>A Copied from the Exome Variant Server SCD5_000034 2/13006 0/8600 2/4406
?/? c.233-24G>A r.(=) p.(=) g.83626590C>T Copied from the Exome Variant Server SCD5_000033 1/13006 1/8600 0/4406
?/? c.233-23T>C r.(=) p.(=) g.83626589A>G Copied from the Exome Variant Server SCD5_000031 4/13006 0/8600 4/4406
?/? c.233-21G>A r.(=) p.(=) g.83626587C>T Copied from the Exome Variant Server SCD5_000029 1/13006 0/8600 1/4406
?/? c.233-18C>G r.(=) p.(=) g.83626584G>C Copied from the Exome Variant Server SCD5_000027 1/13006 0/8600 1/4406
?/? c.233-17C>G r.(=) p.(=) g.83626583G>C Copied from the Exome Variant Server SCD5_000025 1/13006 0/8600 1/4406
?/? c.283C>T r.(?) p.(Arg95Cys) g.83626516G>A Copied from the Exome Variant Server SCD5_000023 2/13006 2/8600 0/4406
?/? c.308G>A r.(?) p.(Arg103Gln) g.83626491C>T Copied from the Exome Variant Server SCD5_000032 2/13006 0/8600 2/4406
?/? c.309G>A r.(=) p.(=) g.83626490C>T Copied from the Exome Variant Server SCD5_000030 1/13006 1/8600 0/4406
?/? c.363+7A>G r.(=) p.(=) g.83626429T>C Copied from the Exome Variant Server SCD5_000028 897/13006 649/8600 248/4406
?/? c.364-32T>G r.(=) p.(=) g.83602097A>C Copied from the Exome Variant Server SCD5_000026 1/13006 1/8600 0/4406
?/? c.364-30T>A r.(=) p.(=) g.83602095A>T Copied from the Exome Variant Server SCD5_000024 2/13006 2/8600 0/4406
?/? c.364-3C>T r.spl? p.? g.83602068G>A Copied from the Exome Variant Server SCD5_000022 1/13006 1/8600 0/4406
?/? c.419C>T r.(?) p.(Thr140Met) g.83602010G>A Copied from the Exome Variant Server SCD5_000021 2/13006 2/8600 0/4406
?/? c.443G>A r.(?) p.(Arg148His) g.83601986C>T Copied from the Exome Variant Server SCD5_000020 1/13006 1/8600 0/4406
?/? c.452T>G r.(?) p.(Phe151Cys) g.83601977A>C Copied from the Exome Variant Server SCD5_000019 2/13006 1/8600 1/4406
?/? c.493C>T r.(?) p.(Arg165*) g.83601936G>A Copied from the Exome Variant Server SCD5_000018 1/13006 1/8600 0/4406
?/? c.520C>T r.(?) p.(Leu174Phe) g.83601909G>A Copied from the Exome Variant Server SCD5_000017 2/13006 2/8600 0/4406
?/? c.568A>G r.(?) p.(Asn190Asp) g.83601861T>C Copied from the Exome Variant Server SCD5_000016 1/13006 1/8600 0/4406
?/? c.570-48G>A r.(=) p.(=) g.83582278C>T Copied from the Exome Variant Server SCD5_000015 8/13002 6/8598 2/4404
?/? c.572C>T r.(?) p.(Thr191Ile) g.83582228G>A Copied from the Exome Variant Server SCD5_000014 1/13006 1/8600 0/4406
?/? c.589G>C r.(?) p.(Glu197Gln) g.83582211C>G Copied from the Exome Variant Server SCD5_000013 7892/13006 5661/8600 2231/4406
?/? c.618G>A r.(=) p.(=) g.83582182C>T Copied from the Exome Variant Server SCD5_000012 5/13006 0/8600 5/4406
?/? c.631C>T r.(?) p.(Arg211Cys) g.83582169G>A Copied from the Exome Variant Server SCD5_000011 1/13006 0/8600 1/4406
?/? c.686T>C r.(?) p.(Leu229Ser) g.83582114A>G Copied from the Exome Variant Server SCD5_000010 1/13006 0/8600 1/4406
?/? c.697C>G r.(?) p.(His233Asp) g.83582103G>C Copied from the Exome Variant Server SCD5_000009 1/13006 1/8600 0/4406
?/? c.717C>T r.(=) p.(=) g.83582083G>A Copied from the Exome Variant Server SCD5_000008 833/13006 281/8600 552/4406
?/? c.723G>C r.(?) p.(Lys241Asn) g.83582077C>G Copied from the Exome Variant Server SCD5_000007 8/13006 0/8600 8/4406
?/? c.730T>C r.(=) p.(=) g.83582070A>G Copied from the Exome Variant Server SCD5_000006 1/13006 0/8600 1/4406
?/? c.732G>T r.(?) p.(Leu244Phe) g.83582068C>A Copied from the Exome Variant Server SCD5_000005 1/13006 1/8600 0/4406
?/? c.736C>A r.(?) p.(Leu246Met) g.83582064G>T Copied from the Exome Variant Server SCD5_000004 3145/13006 2681/8600 464/4406
?/? c.740G>A r.(?) p.(Arg247His) g.83582060C>T Copied from the Exome Variant Server SCD5_000003 2/13006 0/8600 2/4406
?/? c.759G>A r.(=) p.(=) g.83582041C>T Copied from the Exome Variant Server SCD5_000002 3/13006 1/8600 2/4406
?/? c.*18T>C r.(=) p.(=) g.83582011A>G Copied from the Exome Variant Server SCD5_000001 1/13006 1/8600 0/4406
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