Unique variants in gene H2BFM

Information The variants shown are described using the NM_001164416.1 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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.-43_-42insCC r.(=) p.(=) g.103294501_103294502insCC Copied from the Exome Variant Server H2BFM_000005 51/8327 36/5234 15/3093
1 c.-33del r.(=) p.(=) g.103294511del Copied from the Exome Variant Server H2BFM_000007 3/8449 3/5340 0/3109
1 c.157_168del r.(?) p.(Gly57_Phe60del) g.103294700_103294711del Copied from the Exome Variant Server H2BFM_000008 42/9845 3/6248 39/3597
1 c.217C>T r.(?) p.(Gln73*) g.103294760C>T Copied from the Exome Variant Server H2BFM_000009 1132/3600 1054/2391 78/1209
1 c.247A>C r.(?) p.(Ser83Arg) g.103294790A>C Copied from the Exome Variant Server H2BFM_000010 15/3600 0/2391 15/1209
1 c.429-75G>C r.(=) p.(=) g.103295320G>C Copied from the Exome Variant Server H2BFM_000001 1059/3600 783/2391 276/1209
1 c.451C>A r.(?) p.(Gln151Lys) g.103295417C>A Copied from the Exome Variant Server H2BFM_000002 1/3600 1/2391 0/1209
1 c.*12C>T r.(=) p.(=) g.103295443C>T Copied from the Exome Variant Server H2BFM_000003 15/3600 0/2391 15/1209
1 c.*22+5C>T r.spl? p.? g.103295458C>T Copied from the Exome Variant Server H2BFM_000004 1/3600 0/2391 1/1209
1 c.*22+6C>G r.(=) p.(=) g.103295459C>G Copied from the Exome Variant Server H2BFM_000006 1/3600 0/2391 1/1209
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