Full data view for gene CA5B

Information The variants shown are described using the NM_007220.3 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.7G>A r.(?) p.(Val3Met) g.15768153G>A Copied from the Exome Variant Server CA5B_000001 1/10563 1/6728 0/3835 - - - - - - -
?/? c.60G>A r.(?) p.(Trp20*) g.15768206G>A Copied from the Exome Variant Server CA5B_000002 1/10563 0/6728 1/3835 - - - - - - -
?/? c.80G>A r.(?) p.(Arg27Lys) g.15768226G>A Copied from the Exome Variant Server CA5B_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.93G>A r.(=) p.(=) g.15768239G>A Copied from the Exome Variant Server CA5B_000004 2/10563 2/6728 0/3835 - - - - - - -
?/? c.136C>T r.(?) p.(Arg46*) g.15768282C>T Copied from the Exome Variant Server CA5B_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.143-1723G>A r.(=) p.(=) g.15780978G>A Copied from the Exome Variant Server CA5B_000006 28/4520 27/3103 1/1417 - - - - - - -
?/? c.143-38C>T r.(=) p.(=) g.15782663C>T Copied from the Exome Variant Server CA5B_000007 9/10563 8/6728 1/3835 - - - - - - -
?/? c.148C>G r.(?) p.(Pro50Ala) g.15782706C>G Copied from the Exome Variant Server CA5B_000008 2/10563 2/6728 0/3835 - - - - - - -
?/? c.202A>G r.(?) p.(Asn68Asp) g.15782760A>G Copied from the Exome Variant Server CA5B_000009 1/10524 1/6691 0/3833 - - - - - - -
?/? c.234C>T r.(=) p.(=) g.15782792C>T Copied from the Exome Variant Server CA5B_000010 1/10518 1/6687 0/3831 - - - - - - -
?/? c.358C>T r.(=) p.(=) g.15790636C>T Copied from the Exome Variant Server CA5B_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.374G>A r.(?) p.(Arg125Gln) g.15790652G>A Copied from the Exome Variant Server CA5B_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.399G>A r.(?) p.(Trp133*) g.15790677G>A Copied from the Exome Variant Server CA5B_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.449T>C r.(?) p.(Phe150Ser) g.15790727T>C Copied from the Exome Variant Server CA5B_000014 3/10563 3/6728 0/3835 - - - - - - -
?/? c.459+30A>G r.(=) p.(=) g.15790767A>G Copied from the Exome Variant Server CA5B_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.460-20C>G r.(=) p.(=) g.15792405C>G Copied from the Exome Variant Server CA5B_000016 2/10556 2/6721 0/3835 - - - - - - -
?/? c.480C>T r.(=) p.(=) g.15792445C>T Copied from the Exome Variant Server CA5B_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.481G>A r.(?) p.(Ala161Thr) g.15792446G>A Copied from the Exome Variant Server CA5B_000018 80/10563 0/6728 80/3835 - - - - - - -
?/? c.523A>T r.(?) p.(Asn175Tyr) g.15792488A>T Copied from the Exome Variant Server CA5B_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.555+7_555+15del r.(=) p.(=) g.15792527_15792535del Copied from the Exome Variant Server CA5B_000020 502/9149 355/5776 147/3373 - - - - - - -
?/? c.555+29G>A r.(=) p.(=) g.15792549G>A Copied from the Exome Variant Server CA5B_000021 1/10146 1/6457 0/3689 - - - - - - -
?/? c.556-14_556-12del r.(=) p.(=) g.15793355_15793357del Copied from the Exome Variant Server CA5B_000022 101/10204 80/6483 21/3721 - - - - - - -
?/? c.607A>G r.(?) p.(Ile203Val) g.15793420A>G Copied from the Exome Variant Server CA5B_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.618+10G>C r.(=) p.(=) g.15793441G>C Copied from the Exome Variant Server CA5B_000024 1/10563 1/6728 0/3835 - - - - - - -
?/? c.619-22G>A r.(=) p.(=) g.15794815G>A Copied from the Exome Variant Server CA5B_000025 10496/10563 6665/6728 3831/3835 - - - - - - -
?/? c.690C>T r.(=) p.(=) g.15794908C>T Copied from the Exome Variant Server CA5B_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.735G>C r.(?) p.(Trp245Cys) g.15794953G>C Copied from the Exome Variant Server CA5B_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.756A>G r.(=) p.(=) g.15794974A>G Copied from the Exome Variant Server CA5B_000028 3/10563 0/6728 3/3835 - - - - - - -
?/? c.774+13C>A r.(=) p.(=) g.15795005C>A Copied from the Exome Variant Server CA5B_000029 35/10563 32/6728 3/3835 - - - - - - -
?/? c.774+33A>G r.(=) p.(=) g.15795025A>G Copied from the Exome Variant Server CA5B_000030 6/10563 6/6728 0/3835 - - - - - - -
?/? c.775-35T>C r.(=) p.(=) g.15800573T>C Copied from the Exome Variant Server CA5B_000031 2/10559 0/6724 2/3835 - - - - - - -
?/? c.775-10C>G r.(=) p.(=) g.15800598C>G Copied from the Exome Variant Server CA5B_000032 70/10563 1/6728 69/3835 - - - - - - -
?/? c.775-8A>G r.(=) p.(=) g.15800600A>G Copied from the Exome Variant Server CA5B_000033 3354/10563 2277/6728 1077/3835 - - - - - - -
?/? c.819A>G r.(=) p.(=) g.15800652A>G Copied from the Exome Variant Server CA5B_000034 14/10563 1/6728 13/3835 - - - - - - -
?/? c.856C>T r.(?) p.(Pro286Ser) g.15800689C>T Copied from the Exome Variant Server CA5B_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.915A>C r.(?) p.(Gln305His) g.15800748A>C Copied from the Exome Variant Server CA5B_000036 2/10563 0/6728 2/3835 - - - - - - -
?/? c.918G>A r.(=) p.(=) g.15800751G>A Copied from the Exome Variant Server CA5B_000037 3348/10563 2276/6728 1072/3835 - - - - - - -
?/? c.947del r.(?) p.(*318Lysext*19) g.15800780del Copied from the Exome Variant Server CA5B_000038 3/10205 1/6484 2/3721 - - - - - - -
?/? c.*7C>A r.(=) p.(=) g.15800794C>A Copied from the Exome Variant Server CA5B_000039 19/10563 3/6728 16/3835 - - - - - - -
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