All transcript variants in gene NABP2

Information The variants shown are described using the NM_024068.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-23-28G>A r.(=) p.(=) g.56618590G>A Copied from the Exome Variant Server NABP2_000007 1/13006 0/8600 1/4406
?/? c.-23-18C>T r.(=) p.(=) g.56618600C>T Copied from the Exome Variant Server NABP2_000010 3/13006 1/8600 2/4406
?/? c.15C>G r.(=) p.(=) g.56618655C>G Copied from the Exome Variant Server NABP2_000012 7/13006 7/8600 0/4406
?/? c.39G>A r.(=) p.(=) g.56618679G>A Copied from the Exome Variant Server NABP2_000013 1/13006 0/8600 1/4406
?/? c.48T>G r.(?) p.(Asn16Lys) g.56618688T>G Copied from the Exome Variant Server NABP2_000015 1/13006 0/8600 1/4406
?/? c.57T>C r.(=) p.(=) g.56618697T>C Copied from the Exome Variant Server NABP2_000017 1/13006 0/8600 1/4406
?/? c.60C>T r.(=) p.(=) g.56618700C>T Copied from the Exome Variant Server NABP2_000019 1/13006 1/8600 0/4406
?/? c.79+25C>T r.(=) p.(=) g.56618744C>T Copied from the Exome Variant Server NABP2_000021 1/13006 0/8600 1/4406
?/? c.80-6G>A r.(=) p.(=) g.56619151G>A Copied from the Exome Variant Server NABP2_000023 1/13006 0/8600 1/4406
?/? c.168C>T r.(=) p.(=) g.56619245C>T Copied from the Exome Variant Server NABP2_000025 1/13006 1/8600 0/4406
?/? c.171T>C r.(=) p.(=) g.56619248T>C Copied from the Exome Variant Server NABP2_000027 94/13006 1/8600 93/4406
?/? c.183G>A r.(=) p.(=) g.56619260G>A Copied from the Exome Variant Server NABP2_000001 1/13006 1/8600 0/4406
?/? c.218+34G>A r.(=) p.(=) g.56619329G>A Copied from the Exome Variant Server NABP2_000002 1/13006 1/8600 0/4406
?/? c.219-34G>T r.(=) p.(=) g.56619374G>T Copied from the Exome Variant Server NABP2_000003 1/13006 1/8600 0/4406
?/? c.219G>A r.(=) p.(=) g.56619408G>A Copied from the Exome Variant Server NABP2_000004 1/13006 1/8600 0/4406
?/? c.291-35G>C r.(=) p.(=) g.56619928G>C Copied from the Exome Variant Server NABP2_000005 1/13006 0/8600 1/4406
?/? c.291-27G>A r.(=) p.(=) g.56619936G>A Copied from the Exome Variant Server NABP2_000006 3/13006 0/8600 3/4406
?/? c.291-25C>T r.(=) p.(=) g.56619938C>T Copied from the Exome Variant Server NABP2_000008 81/13006 0/8600 81/4406
?/? c.291-8C>T r.(=) p.(=) g.56619955C>T Copied from the Exome Variant Server NABP2_000009 1/13006 0/8600 1/4406
?/? c.372+3G>A r.spl? p.? g.56620047G>A Copied from the Exome Variant Server NABP2_000011 57/13006 2/8600 55/4406
?/? c.372+7C>T r.(=) p.(=) g.56620051C>T Copied from the Exome Variant Server NABP2_000014 1/13006 1/8600 0/4406
?/? c.373-14A>G r.(=) p.(=) g.56620126A>G Copied from the Exome Variant Server NABP2_000016 1/13006 0/8600 1/4406
?/? c.382G>A r.(?) p.(Asp128Asn) g.56620149G>A Copied from the Exome Variant Server NABP2_000018 1/13006 0/8600 1/4406
?/? c.427G>A r.(?) p.(Ala143Thr) g.56620194G>A Copied from the Exome Variant Server NABP2_000020 1/13006 1/8600 0/4406
?/? c.436+53A>G r.(=) p.(=) g.56620256A>G Copied from the Exome Variant Server NABP2_000022 1/4566 0/3182 1/1384
?/? c.483C>T r.(=) p.(=) g.56622844C>T Copied from the Exome Variant Server NABP2_000024 3/13006 1/8600 2/4406
?/? c.533G>A r.(?) p.(Arg178Gln) g.56622894G>A Copied from the Exome Variant Server NABP2_000026 1/13006 1/8600 0/4406
?/? c.592C>G r.(?) p.(Pro198Ala) g.56622953C>G Copied from the Exome Variant Server NABP2_000028 1/13006 0/8600 1/4406
?/? c.603C>T r.(=) p.(=) g.56622964C>T Copied from the Exome Variant Server NABP2_000029 1/13006 1/8600 0/4406
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