Unique variants in gene FAM122C

Information The variants shown are described using the NM_138819.3 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-91_-90del r.(=) p.(=) g.133941538_133941539del Copied from the Exome Variant Server FAM122C_000001 30/10202 20/6483 10/3719
1 c.-7C>T r.(=) p.(=) g.133941622C>T Copied from the Exome Variant Server FAM122C_000003 1/10563 1/6728 0/3835
1 c.-5C>T r.(=) p.(=) g.133941624C>T Copied from the Exome Variant Server FAM122C_000006 2/10563 0/6728 2/3835
1 c.101A>G r.(?) p.(Asn34Ser) g.133941729A>G Copied from the Exome Variant Server FAM122C_000007 5/10563 0/6728 5/3835
1 c.106C>T r.(?) p.(Leu36Phe) g.133941734C>T Copied from the Exome Variant Server FAM122C_000009 3/10563 3/6728 0/3835
1 c.110+8G>C r.(=) p.(=) g.133941746G>C Copied from the Exome Variant Server FAM122C_000011 2/10563 1/6728 1/3835
1 c.110+14A>G r.(=) p.(=) g.133941752A>G Copied from the Exome Variant Server FAM122C_000013 1/10563 1/6728 0/3835
1 c.110+28G>A r.(=) p.(=) g.133941766G>A Copied from the Exome Variant Server FAM122C_000015 78/10563 75/6728 3/3835
1 c.111-55_111-54insG r.(=) p.(=) g.133948746_133948747insG Copied from the Exome Variant Server FAM122C_000017 289/9657 4/6296 285/3361
1 c.111-52_111-50del r.(=) p.(=) g.133948749_133948751del Copied from the Exome Variant Server FAM122C_000002 301/9569 211/6254 90/3315
1 c.111-41A>G r.(=) p.(=) g.133948760A>G Copied from the Exome Variant Server FAM122C_000004 1/10424 0/6676 1/3748
1 c.111-26A>G r.(=) p.(=) g.133948775A>G Copied from the Exome Variant Server FAM122C_000005 1/10538 0/6723 1/3815
1 c.111-22_111-21del r.(=) p.(=) g.133948779_133948780del Copied from the Exome Variant Server FAM122C_000008 1/10192 1/6481 0/3711
1 c.140T>C r.(?) p.(Met47Thr) g.133948830T>C Copied from the Exome Variant Server FAM122C_000010 2/10563 2/6728 0/3835
1 c.179G>A r.(?) p.(Arg60Gln) g.133948869G>A Copied from the Exome Variant Server FAM122C_000012 1/10563 1/6728 0/3835
1 c.181C>T r.(?) p.(Arg61Cys) g.133948871C>T Copied from the Exome Variant Server FAM122C_000014 1/10563 1/6728 0/3835
1 c.189+24_189+25insC r.(=) p.(=) g.133948903_133948904insC Copied from the Exome Variant Server FAM122C_000016 1/10205 1/6484 0/3721
1 c.189+6534A>G r.(=) p.(=) g.133955413A>G Copied from the Exome Variant Server FAM122C_000018 1/3600 1/2391 0/1209
1 c.189+6656C>T r.(=) p.(=) g.133955535C>T Copied from the Exome Variant Server FAM122C_000019 1/3600 1/2391 0/1209
1 c.190-39A>T r.(=) p.(=) g.133963217A>T Copied from the Exome Variant Server FAM122C_000020 8/10563 0/6728 8/3835
1 c.190-26C>G r.(=) p.(=) g.133963230C>G Copied from the Exome Variant Server FAM122C_000021 7/10563 5/6728 2/3835
1 c.190-17T>C r.(=) p.(=) g.133963239T>C Copied from the Exome Variant Server FAM122C_000022 13/10563 0/6728 13/3835
1 c.202C>T r.(?) p.(Pro68Ser) g.133963268C>T Copied from the Exome Variant Server FAM122C_000023 449/10563 406/6728 43/3835
1 c.226C>T r.(?) p.(Arg76Cys) g.133963292C>T Copied from the Exome Variant Server FAM122C_000024 1/10563 1/6728 0/3835
1 c.260A>G r.(?) p.(Asp87Gly) g.133979248A>G Copied from the Exome Variant Server FAM122C_000025 1/10545 0/6710 1/3835
1 c.328G>A r.(?) p.(Glu110Lys) g.133979414G>A Copied from the Exome Variant Server FAM122C_000026 1/10555 1/6720 0/3835
1 c.345+18C>A r.(=) p.(=) g.133979449C>A Copied from the Exome Variant Server FAM122C_000027 281/10554 1/6719 280/3835
1 c.346-24G>T r.(=) p.(=) g.133981389G>T Copied from the Exome Variant Server FAM122C_000028 1/10563 0/6728 1/3835
1 c.395C>A r.(?) p.(Thr132Asn) g.133981462C>A Copied from the Exome Variant Server FAM122C_000029 1/10563 1/6728 0/3835
1 c.405C>T r.(=) p.(=) g.133981472C>T Copied from the Exome Variant Server FAM122C_000030 1/10563 0/6728 1/3835
1 c.438+3A>G r.spl? p.? g.133981508A>G Copied from the Exome Variant Server FAM122C_000031 45/10563 42/6728 3/3835
1 c.438+15C>T r.(=) p.(=) g.133981520C>T Copied from the Exome Variant Server FAM122C_000032 2/10563 2/6728 0/3835
1 c.438+32C>G r.(=) p.(=) g.133981537C>G Copied from the Exome Variant Server FAM122C_000033 1/10563 1/6728 0/3835
1 c.439-43C>T r.(=) p.(=) g.133988078C>T Copied from the Exome Variant Server FAM122C_000034 1/10563 0/6728 1/3835
1 c.*4del r.(=) p.(=) g.133988145del Copied from the Exome Variant Server FAM122C_000035 142/10203 122/6482 20/3721
1 c.*49C>T r.(=) p.(=) g.133988190C>T Copied from the Exome Variant Server FAM122C_000036 1/10563 1/6728 0/3835
1 c.*112A>G r.(=) p.(=) g.133988253A>G Copied from the Exome Variant Server FAM122C_000037 713/3600 137/2391 576/1209
1 c.*165_*166del r.(=) p.(=) g.133988306_133988307del Copied from the Exome Variant Server FAM122C_000038 2/10063 0/6395 2/3668
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