All transcript variants in gene TMED7

Information The variants shown are described using the NM_181836.5 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.28T>C r.(?) p.(Trp10Arg) g.114961462A>G Copied from the Exome Variant Server TMED7-TICAM2_000048 2/12502 0/8262 2/4240
?/? c.42G>A r.(=) p.(=) g.114961448C>T Copied from the Exome Variant Server TMED7-TICAM2_000047 26/12916 0/8544 26/4372
?/? c.78A>G r.(=) p.(=) g.114961412T>C Copied from the Exome Variant Server TMED7-TICAM2_000046 6/13002 0/8598 6/4404
?/? c.84G>A r.(=) p.(=) g.114961406C>T Copied from the Exome Variant Server TMED7-TICAM2_000045 8/13002 0/8598 8/4404
?/? c.91C>G r.(?) p.(Pro31Ala) g.114961399G>C Copied from the Exome Variant Server TMED7-TICAM2_000044 1/13002 1/8598 0/4404
?/? c.94G>T r.(?) p.(Gly32Cys) g.114961396C>A Copied from the Exome Variant Server TMED7-TICAM2_000043 8/13004 6/8600 2/4404
?/? c.192+9G>A r.(=) p.(=) g.114961289C>T Copied from the Exome Variant Server TMED7-TICAM2_000042 1/13002 1/8598 0/4404
?/? c.192+32A>T r.(=) p.(=) g.114961266T>A Copied from the Exome Variant Server TMED7-TICAM2_000041 1/13002 1/8598 0/4404
?/? c.192+35C>T r.(=) p.(=) g.114961263G>A Copied from the Exome Variant Server TMED7-TICAM2_000040 2/13002 2/8598 0/4404
?/? c.192+42C>G r.(=) p.(=) g.114961256G>C Copied from the Exome Variant Server TMED7-TICAM2_000039 1/13000 1/8596 0/4404
?/? c.193-49T>G r.(=) p.(=) g.114956426A>C Copied from the Exome Variant Server TMED7-TICAM2_000038 6/12858 0/8528 6/4330
?/? c.193-30C>G r.(=) p.(=) g.114956407G>C Copied from the Exome Variant Server TMED7-TICAM2_000037 2/12970 2/8578 0/4392
?/? c.301T>C r.(?) p.(Ser101Pro) g.114956269A>G Copied from the Exome Variant Server TMED7-TICAM2_000036 1/13004 0/8600 1/4404
?/? c.315A>G r.(=) p.(=) g.114956255T>C Copied from the Exome Variant Server TMED7-TICAM2_000035 4/13004 4/8600 0/4404
?/? c.348T>C r.(=) p.(=) g.114956222A>G Copied from the Exome Variant Server TMED7-TICAM2_000034 1/13004 1/8600 0/4404
?/? c.438+31G>C r.(=) p.(=) g.114956101C>G Copied from the Exome Variant Server TMED7-TICAM2_000033 1/12938 1/8578 0/4360
?/? c.439-45C>G r.(=) p.(=) g.114952187G>C Copied from the Exome Variant Server TMED7-TICAM2_000032 236/13002 214/8598 22/4404
?/? c.439-43A>G r.(=) p.(=) g.114952185T>C Copied from the Exome Variant Server TMED7-TICAM2_000031 1/13002 0/8598 1/4404
?/? c.439-11T>C r.(=) p.(=) g.114952153A>G Copied from the Exome Variant Server TMED7-TICAM2_000030 1/13002 1/8598 0/4404
?/? c.526C>T r.(?) p.(Arg176*) g.114952055G>A Copied from the Exome Variant Server TMED7-TICAM2_000029 1/13004 1/8600 0/4404
?/? c.570A>T r.(=) p.(=) g.114952011T>A Copied from the Exome Variant Server TMED7-TICAM2_000028 185/13004 170/8600 15/4404
?/? c.*18A>G r.(=) p.(=) g.114951888T>C Copied from the Exome Variant Server TMED7-TICAM2_000027 1/13004 0/8600 1/4404
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