Unique variants in gene CALU

Information The variants shown are described using the NM_001219.4 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.-11-19G>C r.(=) p.(=) g.128388608G>C Copied from the Exome Variant Server CALU_000002 1/13006 0/8600 1/4406
1 c.10C>T r.(?) p.(Arg4*) g.128388647C>T Copied from the Exome Variant Server CALU_000004 1/13006 1/8600 0/4406
1 c.11G>A r.(?) p.(Arg4Gln) g.128388648G>A Copied from the Exome Variant Server CALU_000006 1900/13006 1415/8600 485/4406
1 c.17_19del r.(?) p.(Leu7del) g.128388654_128388656del Copied from the Exome Variant Server CALU_000008 2/12518 0/8254 2/4264
1 c.108C>T r.(=) p.(=) g.128388745C>T Copied from the Exome Variant Server CALU_000001 2/13006 0/8600 2/4406
1 c.110A>G r.(?) p.(Lys37Arg) g.128388747A>G Copied from the Exome Variant Server CALU_000003 1/13006 0/8600 1/4406
1 c.119A>G r.(?) p.(Asn40Ser) g.128388756A>G Copied from the Exome Variant Server CALU_000005 1/13006 0/8600 1/4406
1 c.196C>A r.(?) p.(Pro66Thr) g.128388833C>A Copied from the Exome Variant Server CALU_000007 1/13006 0/8600 1/4406
1 c.221+20G>T r.(=) p.(=) g.128388878G>T Copied from the Exome Variant Server CALU_000009 1/13006 1/8600 0/4406
1 c.276G>A r.(=) p.(=) g.128394370G>A Copied from the Exome Variant Server CALU_000010 1/13006 0/8600 1/4406
1 c.307C>T r.(?) p.(Arg103Cys) g.128394401C>T Copied from the Exome Variant Server CALU_000011 1/13006 1/8600 0/4406
1 c.308G>T r.(?) p.(Arg103Leu) g.128394402G>T Copied from the Exome Variant Server CALU_000012 1/13006 0/8600 1/4406
1 c.311G>A r.(?) p.(Trp104*) g.128394405G>A Copied from the Exome Variant Server CALU_000013 2/13006 0/8600 2/4406
1 c.369C>T r.(=) p.(=) g.128394463C>T Copied from the Exome Variant Server CALU_000014 1/13006 1/8600 0/4406
1 c.370G>A r.(?) p.(Val124Ile) g.128394464G>A Copied from the Exome Variant Server CALU_000015 1/13006 1/8600 0/4406
1 c.409G>A r.(?) p.(Val137Ile) g.128394503G>A Copied from the Exome Variant Server CALU_000016 1/13006 1/8600 0/4406
1 c.415+11A>G r.(=) p.(=) g.128394520A>G Copied from the Exome Variant Server CALU_000017 1/13006 1/8600 0/4406
1 c.415+22G>A r.(=) p.(=) g.128394531G>A Copied from the Exome Variant Server CALU_000018 1/13006 0/8600 1/4406
1 c.415+95C>T r.(=) p.(=) g.128394604C>T Copied from the Exome Variant Server CALU_000019 2/4566 1/3182 1/1384
1 c.415+97C>T r.(=) p.(=) g.128394606C>T Copied from the Exome Variant Server CALU_000020 1363/4566 1182/3182 181/1384
1 c.415+118C>T r.(=) p.(=) g.128394627C>T Copied from the Exome Variant Server CALU_000021 1/4566 1/3182 0/1384
1 c.415+150G>T r.(=) p.(=) g.128394659G>T Copied from the Exome Variant Server CALU_000022 1/4566 1/3182 0/1384
1 c.415+299C>T r.(=) p.(=) g.128394808C>T Copied from the Exome Variant Server CALU_000023 187/4566 146/3182 41/1384
1 c.472C>T r.(?) p.(Arg158Trp) g.128398981C>T Copied from the Exome Variant Server CALU_000024 1/13006 1/8600 0/4406
1 c.533C>T r.(?) p.(Ala178Val) g.128399042C>T Copied from the Exome Variant Server CALU_000025 1/13006 0/8600 1/4406
1 c.562A>G r.(?) p.(Met188Val) g.128399071A>G Copied from the Exome Variant Server CALU_000026 1/13006 1/8600 0/4406
1 c.582+21T>C r.(=) p.(=) g.128399112T>C Copied from the Exome Variant Server CALU_000027 3/13006 0/8600 3/4406
1 c.582+41_582+42insT r.(=) p.(=) g.128399132_128399133insT Copied from the Exome Variant Server CALU_000028 15/12518 14/8254 1/4264
1 c.583-60_583-57del r.(=) p.(=) g.128399786_128399789del Copied from the Exome Variant Server CALU_000029 49/12506 22/8252 27/4254
1 c.583-9C>A r.(=) p.(=) g.128399837C>A Copied from the Exome Variant Server CALU_000030 10/13004 0/8600 10/4404
1 c.625G>A r.(?) p.(Asp209Asn) g.128399888G>A Copied from the Exome Variant Server CALU_000031 1/13004 0/8600 1/4404
1 c.643+6T>G r.(=) p.(=) g.128399912T>G Copied from the Exome Variant Server CALU_000032 2/13006 2/8600 0/4406
1 c.643+28T>C r.(=) p.(=) g.128399934T>C Copied from the Exome Variant Server CALU_000033 1/13006 1/8600 0/4406
1 c.644-12C>A r.(=) p.(=) g.128407498C>A Copied from the Exome Variant Server CALU_000034 1/13006 1/8600 0/4406
1 c.684A>G r.(=) p.(=) g.128407550A>G Copied from the Exome Variant Server CALU_000035 1/13006 1/8600 0/4406
1 c.721C>T r.(?) p.(Arg241Trp) g.128407587C>T Copied from the Exome Variant Server CALU_000036 2/13006 2/8600 0/4406
1 c.810C>A r.(=) p.(=) g.128407676C>A Copied from the Exome Variant Server CALU_000037 1/13006 1/8600 0/4406
1 c.843+12G>A r.(=) p.(=) g.128407721G>A Copied from the Exome Variant Server CALU_000038 1/13006 1/8600 0/4406
1 c.843+23G>T r.(=) p.(=) g.128407732G>T Copied from the Exome Variant Server CALU_000039 1/13006 1/8600 0/4406
1 c.843+26C>G r.(=) p.(=) g.128407735C>G Copied from the Exome Variant Server CALU_000040 1/13006 0/8600 1/4406
1 c.843+49C>T r.(=) p.(=) g.128407758C>T Copied from the Exome Variant Server CALU_000041 1/13006 1/8600 0/4406
1 c.844-37A>G r.(=) p.(=) g.128409080A>G Copied from the Exome Variant Server CALU_000042 1/13006 1/8600 0/4406
1 c.844-8A>G r.(=) p.(=) g.128409109A>G Copied from the Exome Variant Server CALU_000043 23/13006 0/8600 23/4406
1 c.848G>A r.(?) p.(Gly283Asp) g.128409121G>A Copied from the Exome Variant Server CALU_000044 1/13006 1/8600 0/4406
1 c.*4A>G r.(=) p.(=) g.128409225A>G Copied from the Exome Variant Server CALU_000045 4180/13006 3523/8600 657/4406
1 c.*3362A>G r.(=) p.(=) g.128412583A>G Copied from the Exome Variant Server CALU_000046 1/13006 0/8600 1/4406
1 c.*3366_*3367insG r.(=) p.(=) g.128412587_128412588insG Copied from the Exome Variant Server CALU_000047 1/12518 1/8254 0/4264
1 c.*3397C>A r.(=) p.(=) g.128412618C>A Copied from the Exome Variant Server CALU_000048 15/13006 15/8600 0/4406
1 c.*3407G>A r.(?) p.(Ser338Phe) g.128412628G>A Copied from the Exome Variant Server CALU_000049 1/13006 0/8600 1/4406
1 c.*3432A>T r.(?) p.(Cys330Ser) g.128412653A>T Copied from the Exome Variant Server CALU_000050 1/13006 0/8600 1/4406
1 c.*3433T>C r.(=) p.(=) g.128412654T>C Copied from the Exome Variant Server CALU_000051 1/13006 1/8600 0/4406
1 c.*3439G>A r.(=) p.(=) g.128412660G>A Copied from the Exome Variant Server CALU_000053 1/13006 1/8600 0/4406
1 c.*3486C>G r.(?) p.(Ala312Pro) g.128412707C>G Copied from the Exome Variant Server CALU_000056 1/13006 1/8600 0/4406
1 c.*3500G>T r.(=) p.(=) g.128412721G>T Copied from the Exome Variant Server CALU_000057 6/13006 1/8600 5/4406
1 c.*3510A>G r.(=) p.(=) g.128412731A>G Copied from the Exome Variant Server CALU_000052 1/13006 0/8600 1/4406
1 c.*3524T>C r.(=) p.(=) g.128412745T>C Copied from the Exome Variant Server CALU_000054 1/13006 1/8600 0/4406
1 c.*3538G>A r.(=) p.(=) g.128412759G>A Copied from the Exome Variant Server CALU_000055 9/13006 9/8600 0/4406
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