All transcript variants in gene THRSP

Information The variants shown are described using the NM_003251.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.2T>C r.? p.? g.77774929T>C Copied from the Exome Variant Server NDUFC2-KCTD14_000058 2/12984 2/8584 0/4400
?/? c.20G>A r.(?) p.(Arg7His) g.77774947G>A Copied from the Exome Variant Server NDUFC2-KCTD14_000059 40/12984 29/8584 11/4400
?/? c.28A>G r.(?) p.(Lys10Glu) g.77774955A>G Copied from the Exome Variant Server NDUFC2-KCTD14_000060 1/12984 1/8584 0/4400
?/? c.112C>T r.(?) p.(Arg38Trp) g.77775039C>T Copied from the Exome Variant Server NDUFC2-KCTD14_000061 3/12984 0/8584 3/4400
?/? c.113G>A r.(?) p.(Arg38Gln) g.77775040G>A Copied from the Exome Variant Server NDUFC2-KCTD14_000062 5/12984 0/8584 5/4400
?/? c.117C>T r.(=) p.(=) g.77775044C>T Copied from the Exome Variant Server NDUFC2-KCTD14_000063 1/12984 0/8584 1/4400
?/? c.118G>A r.(?) p.(Val40Met) g.77775045G>A Copied from the Exome Variant Server NDUFC2-KCTD14_000064 1/12984 0/8584 1/4400
?/? c.124C>G r.(?) p.(Leu42Val) g.77775051C>G Copied from the Exome Variant Server NDUFC2-KCTD14_000065 1/12984 1/8584 0/4400
?/? c.129T>C r.(=) p.(=) g.77775056T>C Copied from the Exome Variant Server NDUFC2-KCTD14_000066 1/12984 0/8584 1/4400
?/? c.200G>A r.(?) p.(Cys67Tyr) g.77775127G>A Copied from the Exome Variant Server NDUFC2-KCTD14_000067 1/12984 1/8584 0/4400
?/? c.216T>C r.(=) p.(=) g.77775143T>C Copied from the Exome Variant Server NDUFC2-KCTD14_000068 7/12984 5/8584 2/4400
?/? c.227C>T r.(?) p.(Pro76Leu) g.77775154C>T Copied from the Exome Variant Server NDUFC2-KCTD14_000069 1/12984 0/8584 1/4400
?/? c.228G>A r.(=) p.(=) g.77775155G>A Copied from the Exome Variant Server NDUFC2-KCTD14_000070 89/12984 1/8584 88/4400
?/? c.229C>T r.(?) p.(Arg77Trp) g.77775156C>T Copied from the Exome Variant Server NDUFC2-KCTD14_000071 1/12984 1/8584 0/4400
?/? c.237G>C r.(?) p.(Glu79Asp) g.77775164G>C Copied from the Exome Variant Server NDUFC2-KCTD14_000073 1/12984 1/8584 0/4400
?/? c.238T>A r.(?) p.(Trp80Arg) g.77775165T>A Copied from the Exome Variant Server NDUFC2-KCTD14_000075 1/12984 0/8584 1/4400
?/? c.262G>T r.(?) p.(Glu88*) g.77775189G>T Copied from the Exome Variant Server NDUFC2-KCTD14_000077 1/12984 1/8584 0/4400
?/? c.277G>A r.(?) p.(Ala93Thr) g.77775204G>A Copied from the Exome Variant Server NDUFC2-KCTD14_000079 1/12984 0/8584 1/4400
?/? c.295G>A r.(?) p.(Glu99Lys) g.77775222G>A Copied from the Exome Variant Server NDUFC2-KCTD14_000082 1/12984 0/8584 1/4400
?/? c.300C>T r.(=) p.(=) g.77775227C>T Copied from the Exome Variant Server NDUFC2-KCTD14_000083 9/12984 8/8584 1/4400
?/? c.327G>A r.(=) p.(=) g.77775254G>A Copied from the Exome Variant Server NDUFC2-KCTD14_000085 1/12984 1/8584 0/4400
?/? c.358C>A r.(?) p.(Leu120Ile) g.77775285C>A Copied from the Exome Variant Server NDUFC2-KCTD14_000087 1/12984 1/8584 0/4400
?/? c.392C>G r.(?) p.(Ala131Gly) g.77775319C>G Copied from the Exome Variant Server NDUFC2-KCTD14_000088 1/12984 1/8584 0/4400
?/? c.425C>T r.(?) p.(Thr142Met) g.77775352C>T Copied from the Exome Variant Server NDUFC2-KCTD14_000090 135/12984 125/8584 10/4400
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