All transcript variants in gene CT45A5

Information The variants shown are described using the NM_001007551.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.170-47T>G r.(=) p.(=) g.134948202A>C Copied from the Exome Variant Server CT45A5_000005 5/10425 0/6624 5/3801
?/? c.217A>T r.(?) p.(Ile73Phe) g.134948108T>A Copied from the Exome Variant Server CT45A5_000004 6/10500 0/6679 6/3821
?/? c.291T>C r.(=) p.(=) g.134948034A>G Copied from the Exome Variant Server CT45A5_000003 8194/10514 4926/6694 3268/3820
?/? c.302A>G r.(?) p.(Asn101Ser) g.134948023T>C Copied from the Exome Variant Server CT45A5_000002 9/10521 7/6701 2/3820
?/? c.311G>A r.(?) p.(Gly104Glu) g.134948014C>T Copied from the Exome Variant Server CT45A5_000001 130/10520 0/6700 130/3820
?/? c.332G>A r.(?) p.(Gly111Glu) g.134947993C>T Copied from the Exome Variant Server CT45A5_000021 1/10522 1/6702 0/3820
?/? c.335T>C r.(?) p.(Ile112Thr) g.134947990A>G Copied from the Exome Variant Server CT45A5_000020 2/10522 1/6702 1/3820
?/? c.345T>C r.(=) p.(=) g.134947980A>G Copied from the Exome Variant Server CT45A5_000019 1/10524 0/6703 1/3821
?/? c.355C>G r.(?) p.(Gln119Glu) g.134947970G>C Copied from the Exome Variant Server CT45A5_000018 1/10520 0/6700 1/3820
?/? c.362A>C r.(?) p.(Glu121Ala) g.134947963T>G Copied from the Exome Variant Server CT45A5_000017 2/10519 2/6699 0/3820
?/? c.367A>C r.(?) p.(Asn123His) g.134947958T>G Copied from the Exome Variant Server CT45A5_000016 2/10518 0/6698 2/3820
?/? c.371C>G r.(?) p.(Ala124Gly) g.134947954G>C Copied from the Exome Variant Server CT45A5_000015 2/10518 2/6698 0/3820
?/? c.406T>G r.(?) p.(Cys136Gly) g.134947919A>C Copied from the Exome Variant Server CT45A5_000014 36/10511 0/6693 36/3818
?/? c.414A>G r.(=) p.(=) g.134947911T>C Copied from the Exome Variant Server CT45A5_000013 21/10509 0/6692 21/3817
?/? c.415C>T r.(?) p.(Arg139*) g.134947910G>A Copied from the Exome Variant Server CT45A5_000012 5/10510 4/6693 1/3817
?/? c.416G>A r.(?) p.(Arg139Gln) g.134947909C>T Copied from the Exome Variant Server CT45A5_000011 2/10509 1/6693 1/3816
?/? c.418+17C>A r.(=) p.(=) g.134947890G>T Copied from the Exome Variant Server CT45A5_000010 1/10504 0/6687 1/3817
?/? c.418+35G>A r.(=) p.(=) g.134947872C>T Copied from the Exome Variant Server CT45A5_000009 7/10506 0/6689 7/3817
?/? c.418+38G>C r.(=) p.(=) g.134947869C>G Copied from the Exome Variant Server CT45A5_000008 2/10506 0/6689 2/3817
?/? c.419-13del r.(=) p.(=) g.134947541del Copied from the Exome Variant Server CT45A5_000007 22/1703 14/953 8/750
?/? c.512+38C>T r.(=) p.(=) g.134947397G>A Copied from the Exome Variant Server CT45A5_000006 82/4141 2/2238 80/1903
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