All transcript variants in gene TMEM127

Information The variants shown are described using the NM_017849.3 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.136A>G r.(?) p.(Thr46Ala) g.96930984T>C Copied from the Exome Variant Server TMEM127_000033 3/12908 0/8542 3/4366
?/? c.208G>A r.(?) p.(Asp70Asn) g.96930912C>T Copied from the Exome Variant Server TMEM127_000032 7/13000 0/8598 7/4402
?/? c.211G>A r.(?) p.(Val71Met) g.96930909C>T Copied from the Exome Variant Server TMEM127_000031 1/12998 1/8596 0/4402
?/? c.217G>C r.(?) p.(Gly73Arg) g.96930903C>G Copied from the Exome Variant Server TMEM127_000030 2/12998 2/8596 0/4402
?/? c.230C>T r.(?) p.(Pro77Leu) g.96930890G>A Copied from the Exome Variant Server TMEM127_000029 1/12996 0/8594 1/4402
?/? c.245-45C>G r.(=) p.(=) g.96920780G>C Copied from the Exome Variant Server TMEM127_000028 2/13006 2/8600 0/4406
?/? c.245-44C>T r.(=) p.(=) g.96920779G>A Copied from the Exome Variant Server TMEM127_000027 13/13006 13/8600 0/4406
?/? c.245-26G>A r.(=) p.(=) g.96920761C>T Copied from the Exome Variant Server TMEM127_000026 7/13006 0/8600 7/4406
?/? c.245-16G>T r.(=) p.(=) g.96920751C>A Copied from the Exome Variant Server TMEM127_000025 1/13006 1/8600 0/4406
?/? c.268G>A r.(?) p.(Val90Met) g.96920712C>T Copied from the Exome Variant Server TMEM127_000024 36/13006 0/8600 36/4406
?/? c.292G>A r.(?) p.(Ala98Thr) g.96920688C>T Copied from the Exome Variant Server TMEM127_000023 1/13006 1/8600 0/4406
?/? c.324C>T r.(=) p.(=) g.96920656G>A Copied from the Exome Variant Server TMEM127_000022 1/13006 1/8600 0/4406
?/? c.371A>G r.(?) p.(Lys124Arg) g.96920609T>C Copied from the Exome Variant Server TMEM127_000021 1/13006 0/8600 1/4406
?/? c.408G>T r.(=) p.(=) g.96920572C>A Copied from the Exome Variant Server TMEM127_000020 2/13006 2/8600 0/4406
?/? c.409+7C>T r.(=) p.(=) g.96920564G>A Copied from the Exome Variant Server TMEM127_000019 61/13006 57/8600 4/4406
?/? c.409+34A>C r.(=) p.(=) g.96920537T>G Copied from the Exome Variant Server TMEM127_000018 1/13006 1/8600 0/4406
?/? c.409+45G>C r.(=) p.(=) g.96920526C>G Copied from the Exome Variant Server TMEM127_000017 53/13006 49/8600 4/4406
?/? c.410-38_410-35del r.(=) p.(=) g.96919888_96919891del Copied from the Exome Variant Server TMEM127_000016 1/12520 1/8254 0/4266
?/? c.410-17G>A r.(=) p.(=) g.96919870C>T Copied from the Exome Variant Server TMEM127_000015 9/13006 0/8600 9/4406
?/? c.410-7C>T r.(=) p.(=) g.96919860G>A Copied from the Exome Variant Server TMEM127_000014 2/13006 2/8600 0/4406
?/? c.496G>A r.(?) p.(Gly166Arg) g.96919767C>T Copied from the Exome Variant Server TMEM127_000013 1/13006 1/8600 0/4406
?/? c.522C>T r.(=) p.(=) g.96919741G>A Copied from the Exome Variant Server TMEM127_000012 2/13006 2/8600 0/4406
?/? c.523G>A r.(?) p.(Val175Ile) g.96919740C>T Copied from the Exome Variant Server TMEM127_000011 1/13006 0/8600 1/4406
?/? c.565C>T r.(=) p.(=) g.96919698G>A Copied from the Exome Variant Server TMEM127_000010 4/13006 4/8600 0/4406
?/? c.568G>C r.(?) p.(Ala190Pro) g.96919695C>G Copied from the Exome Variant Server TMEM127_000009 1/13006 1/8600 0/4406
?/? c.573G>A r.(=) p.(=) g.96919690C>T Copied from the Exome Variant Server TMEM127_000008 2/13006 1/8600 1/4406
?/? c.589C>T r.(?) p.(Arg197Cys) g.96919674G>A Copied from the Exome Variant Server TMEM127_000007 1/13006 0/8600 1/4406
?/? c.621G>A r.(=) p.(=) g.96919642C>T Copied from the Exome Variant Server TMEM127_000006 1804/13006 1500/8600 304/4406
?/? c.633C>T r.(=) p.(=) g.96919630G>A Copied from the Exome Variant Server TMEM127_000005 1/13006 1/8600 0/4406
?/? c.662C>T r.(?) p.(Pro221Leu) g.96919601G>A Copied from the Exome Variant Server TMEM127_000004 1/13006 1/8600 0/4406
?/? c.663G>C r.(=) p.(=) g.96919600C>G Copied from the Exome Variant Server TMEM127_000003 1/13006 1/8600 0/4406
?/? c.665C>T r.(?) p.(Ala222Val) g.96919598G>A Copied from the Exome Variant Server TMEM127_000002 2/13006 0/8600 2/4406
?/? c.*50C>T r.(=) p.(=) g.96919496G>A Copied from the Exome Variant Server TMEM127_000001 108/13006 1/8600 107/4406
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