Full data view for gene CRYBA2

Information The variants shown are described using the NM_057093.1 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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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.-24G>T r.(=) p.(=) g.219857922C>A Copied from the Exome Variant Server CRYBA2_000041 31/12026 1/7966 30/4060 - - - - - - -
?/? c.19C>T r.(?) p.(Pro7Ser) g.219857880G>A Copied from the Exome Variant Server CRYBA2_000040 200/12486 187/8290 13/4196 - - - - - - -
?/? c.26del r.(?) p.(Pro9Argfs*22) g.219857873del Copied from the Exome Variant Server CRYBA2_000039 7/11488 5/7694 2/3794 - - - - - - -
?/? c.45G>T r.(=) p.(=) g.219857854C>A Copied from the Exome Variant Server CRYBA2_000038 2/12942 2/8556 0/4386 - - - - - - -
?/? c.63C>T r.(=) p.(=) g.219857836G>A Copied from the Exome Variant Server CRYBA2_000037 1/12984 1/8586 0/4398 - - - - - - -
?/? c.76C>G r.(?) p.(Arg26Gly) g.219857823G>C Copied from the Exome Variant Server CRYBA2_000036 1/12992 1/8588 0/4404 - - - - - - -
?/? c.101C>T r.(?) p.(Ala34Val) g.219857798G>A Copied from the Exome Variant Server CRYBA2_000035 3/13000 0/8596 3/4404 - - - - - - -
?/? c.108C>T r.(=) p.(=) g.219857791G>A Copied from the Exome Variant Server CRYBA2_000034 51/13000 0/8594 51/4406 - - - - - - -
?/? c.161+42G>T r.(=) p.(=) g.219857696C>A Copied from the Exome Variant Server CRYBA2_000033 2/12988 0/8588 2/4400 - - - - - - -
?/? c.161+47G>A r.(=) p.(=) g.219857691C>T Copied from the Exome Variant Server CRYBA2_000032 3/12990 0/8588 3/4402 - - - - - - -
?/? c.162-40C>T r.(=) p.(=) g.219857005G>A Copied from the Exome Variant Server CRYBA2_000031 52/12988 1/8584 51/4404 - - - - - - -
?/? c.237C>T r.(=) p.(=) g.219856890G>A Copied from the Exome Variant Server CRYBA2_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.238G>A r.(?) p.(Ala80Thr) g.219856889C>T Copied from the Exome Variant Server CRYBA2_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.240C>T r.(=) p.(=) g.219856887G>A Copied from the Exome Variant Server CRYBA2_000028 3/13006 0/8600 3/4406 - - - - - - -
?/? c.300C>T r.(=) p.(=) g.219856827G>A Copied from the Exome Variant Server CRYBA2_000027 2/13006 2/8600 0/4406 - - - - - - -
?/? c.303G>C r.(=) p.(=) g.219856824C>G Copied from the Exome Variant Server CRYBA2_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.304-52G>C r.(=) p.(=) g.219855768C>G Copied from the Exome Variant Server CRYBA2_000025 1/7272 1/4618 0/2654 - - - - - - -
?/? c.304-16T>C r.(=) p.(=) g.219855732A>G Copied from the Exome Variant Server CRYBA2_000024 495/13006 8/8600 487/4406 - - - - - - -
?/? c.317G>T r.(?) p.(Ser106Ile) g.219855703C>A Copied from the Exome Variant Server CRYBA2_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.320G>A r.(?) p.(Arg107His) g.219855700C>T Copied from the Exome Variant Server CRYBA2_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.340G>C r.(?) p.(Asp114His) g.219855680C>G Copied from the Exome Variant Server CRYBA2_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.353G>C r.(?) p.(Gly118Ala) g.219855667C>G Copied from the Exome Variant Server CRYBA2_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.361T>A r.(?) p.(Phe121Ile) g.219855659A>T Copied from the Exome Variant Server CRYBA2_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.404G>A r.(?) p.(Trp135*) g.219855616C>T Copied from the Exome Variant Server CRYBA2_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.413A>G r.(?) p.(Lys138Arg) g.219855607T>C Copied from the Exome Variant Server CRYBA2_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.446C>T r.(?) p.(Ala149Val) g.219855574G>A Copied from the Exome Variant Server CRYBA2_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.446+1G>A r.spl? p.? g.219855573C>T Copied from the Exome Variant Server CRYBA2_000015 6/13006 6/8600 0/4406 - - - - - - -
?/? c.447-41G>A r.(=) p.(=) g.219855162C>T Copied from the Exome Variant Server CRYBA2_000014 6/13004 0/8600 6/4404 - - - - - - -
?/? c.447-19del r.(=) p.(=) g.219855140del Copied from the Exome Variant Server CRYBA2_000013 1/12520 1/8254 0/4266 - - - - - - -
?/? c.505C>T r.(?) p.(Arg169Trp) g.219855063G>A Copied from the Exome Variant Server CRYBA2_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.506G>A r.(?) p.(Arg169Gln) g.219855062C>T Copied from the Exome Variant Server CRYBA2_000011 20/13006 0/8600 20/4406 - - - - - - -
?/? c.510C>T r.(=) p.(=) g.219855058G>A Copied from the Exome Variant Server CRYBA2_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.524G>T r.(?) p.(Cys175Phe) g.219855044C>A Copied from the Exome Variant Server CRYBA2_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.531C>T r.(=) p.(=) g.219855037G>A Copied from the Exome Variant Server CRYBA2_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.540C>T r.(=) p.(=) g.219855028G>A Copied from the Exome Variant Server CRYBA2_000007 2/13006 0/8600 2/4406 - - - - - - -
?/? c.571T>C r.(?) p.(Ser191Pro) g.219854997A>G Copied from the Exome Variant Server CRYBA2_000006 5/13006 4/8600 1/4406 - - - - - - -
?/? c.577C>T r.(?) p.(Arg193Trp) g.219854991G>A Copied from the Exome Variant Server CRYBA2_000005 3/13006 3/8600 0/4406 - - - - - - -
?/? c.591C>G r.(?) p.(His197Gln) g.219854977G>C Copied from the Exome Variant Server CRYBA2_000004 2/13006 2/8600 0/4406 - - - - - - -
?/? c.*8G>A r.(=) p.(=) g.219854966C>T Copied from the Exome Variant Server CRYBA2_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*13C>T r.(=) p.(=) g.219854961G>A Copied from the Exome Variant Server CRYBA2_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*44G>A r.(=) p.(=) g.219854930C>T Copied from the Exome Variant Server CRYBA2_000001 1/13006 0/8600 1/4406 - - - - - - -
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