Unique variants in gene COA1

Information The variants shown are described using the NM_018224.3 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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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.-33_-32insAAG r.(=) p.(=) g.43688245_43688246insCTT Copied from the Exome Variant Server COA1_000044 4/12518 0/8254 4/4264
1 c.15+11G>A r.(=) p.(=) g.43688188C>T Copied from the Exome Variant Server COA1_000043 1/13006 1/8600 0/4406
1 c.15+88T>C r.(=) p.(=) g.43688111A>G Copied from the Exome Variant Server COA1_000042 23/4566 0/3182 23/1384
1 c.16T>A r.(?) p.(Tyr6Asn) g.43687233A>T Copied from the Exome Variant Server COA1_000041 4/13004 4/8598 0/4406
1 c.31C>T r.(?) p.(Arg11Trp) g.43687218G>A Copied from the Exome Variant Server COA1_000040 1/13006 0/8600 1/4406
1 c.37A>G r.(?) p.(Met13Val) g.43687212T>C Copied from the Exome Variant Server COA1_000039 3/13006 0/8600 3/4406
1 c.54G>C r.(?) p.(Arg18Ser) g.43687195C>G Copied from the Exome Variant Server COA1_000038 2/13006 0/8600 2/4406
1 c.66C>T r.(=) p.(=) g.43687183G>A Copied from the Exome Variant Server COA1_000037 1/13006 1/8600 0/4406
1 c.67G>C r.(?) p.(Gly23Arg) g.43687182C>G Copied from the Exome Variant Server COA1_000036 1/13006 1/8600 0/4406
1 c.81C>T r.(=) p.(=) g.43687168G>A Copied from the Exome Variant Server COA1_000035 1/13006 0/8600 1/4406
1 c.82G>A r.(?) p.(Gly28Arg) g.43687167C>T Copied from the Exome Variant Server COA1_000034 2/13006 0/8600 2/4406
1 c.115+23_115+24insGCCTG r.(=) p.(=) g.43687110_43687111insCAGGC Copied from the Exome Variant Server COA1_000033 2/12518 2/8254 0/4264
1 c.115+24C>T r.(=) p.(=) g.43687110G>A Copied from the Exome Variant Server COA1_000032 174/13006 0/8600 174/4406
1 c.115+39C>T r.(=) p.(=) g.43687095G>A Copied from the Exome Variant Server COA1_000030 28/13006 26/8600 2/4406
1 c.115+42G>A r.(=) p.(=) g.43687092C>T Copied from the Exome Variant Server COA1_000028 34/13006 0/8600 34/4406
1 c.116-51T>C r.(=) p.(=) g.43685049A>G Copied from the Exome Variant Server COA1_000026 1/13004 0/8600 1/4404
1 c.116-34C>A r.(=) p.(=) g.43685032G>T Copied from the Exome Variant Server COA1_000024 170/13006 1/8600 169/4406
1 c.116-22T>C r.(=) p.(=) g.43685020A>G Copied from the Exome Variant Server COA1_000022 1/13006 1/8600 0/4406
1 c.116-15G>A r.(=) p.(=) g.43685013C>T Copied from the Exome Variant Server COA1_000031 1/13006 1/8600 0/4406
1 c.116-8G>A r.(=) p.(=) g.43685006C>T Copied from the Exome Variant Server COA1_000029 2/13006 0/8600 2/4406
1 c.174C>T r.(=) p.(=) g.43684940G>A Copied from the Exome Variant Server COA1_000027 1/13006 0/8600 1/4406
1 c.198T>C r.(=) p.(=) g.43684916A>G Copied from the Exome Variant Server COA1_000025 2/13006 2/8600 0/4406
1 c.202C>T r.(?) p.(Leu68Phe) g.43684912G>A Copied from the Exome Variant Server COA1_000023 4/13006 0/8600 4/4406
1 c.234G>A r.(=) p.(=) g.43684880C>T Copied from the Exome Variant Server COA1_000021 1/13006 1/8600 0/4406
1 c.264+3A>G r.spl? p.? g.43684847T>C Copied from the Exome Variant Server COA1_000020 8/13006 7/8600 1/4406
1 c.264+39C>T r.(=) p.(=) g.43684811G>A Copied from the Exome Variant Server COA1_000019 17/13006 0/8600 17/4406
1 c.264+47G>C r.(=) p.(=) g.43684803C>G Copied from the Exome Variant Server COA1_000018 8378/13006 4755/8600 3623/4406
1 c.265-36A>G r.(=) p.(=) g.43680284T>C Copied from the Exome Variant Server COA1_000017 2/13006 0/8600 2/4406
1 c.265-22T>G r.(=) p.(=) g.43680270A>C Copied from the Exome Variant Server COA1_000016 1/13006 0/8600 1/4406
1 c.265-9C>A r.(=) p.(=) g.43680257G>T Copied from the Exome Variant Server COA1_000015 167/13006 1/8600 166/4406
1 c.309C>T r.(=) p.(=) g.43680204G>A Copied from the Exome Variant Server COA1_000014 5/13006 3/8600 2/4406
1 c.310G>A r.(?) p.(Val104Ile) g.43680203C>T Copied from the Exome Variant Server COA1_000013 4/13006 0/8600 4/4406
1 c.341+18C>T r.(=) p.(=) g.43680154G>A Copied from the Exome Variant Server COA1_000012 4/13006 0/8600 4/4406
1 c.341+31_341+32insG r.(=) p.(=) g.43680140_43680141insC Copied from the Exome Variant Server COA1_000011 2/12518 1/8254 1/4264
1 c.341+61C>A r.(=) p.(=) g.43680111G>T Copied from the Exome Variant Server COA1_000010 1/4566 1/3182 0/1384
1 c.342-51G>A r.(=) p.(=) g.43679331C>T Copied from the Exome Variant Server COA1_000009 1/13006 0/8600 1/4406
1 c.342-30_342-24del r.(=) p.(=) g.43679304_43679310del Copied from the Exome Variant Server COA1_000008 2/12518 2/8254 0/4264
1 c.342-23_342-22insGATA r.(=) p.(=) g.43679302_43679303insTATC Copied from the Exome Variant Server COA1_000007 3/12518 3/8254 0/4264
1 c.364T>C r.(=) p.(=) g.43679258A>G Copied from the Exome Variant Server COA1_000006 31/13006 29/8600 2/4406
1 c.376G>C r.(?) p.(Asp126His) g.43679246C>G Copied from the Exome Variant Server COA1_000005 1/13006 1/8600 0/4406
1 c.399C>G r.(?) p.(Phe133Leu) g.43679223G>C Copied from the Exome Variant Server COA1_000004 1/13006 1/8600 0/4406
1 c.417C>T r.(=) p.(=) g.43679205G>A Copied from the Exome Variant Server COA1_000003 1/13006 1/8600 0/4406
1 c.436G>C r.(?) p.(Glu146Gln) g.43679186C>G Copied from the Exome Variant Server COA1_000002 1/13006 0/8600 1/4406
1 c.*10A>G r.(=) p.(=) g.43679171T>C Copied from the Exome Variant Server COA1_000001 1/13006 0/8600 1/4406
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