Unique variants in gene FAM104B

Information The variants shown are described using the NM_138362.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.11G>T r.(?) p.(Cys4Phe) g.55187579C>A Copied from the Exome Variant Server FAM104B_000025 2/10555 0/6724 2/3831
1 c.20G>T r.(?) p.(Arg7Leu) g.55187570C>A Copied from the Exome Variant Server FAM104B_000024 2/10558 2/6725 0/3833
1 c.20+46G>T r.(=) p.(=) g.55187524C>A Copied from the Exome Variant Server FAM104B_000023 25/10547 0/6718 25/3829
1 c.20+48C>T r.(=) p.(=) g.55187522G>A Copied from the Exome Variant Server FAM104B_000022 10/10547 10/6720 0/3827
1 c.20+149C>T r.(=) p.(=) g.55187421G>A Copied from the Exome Variant Server FAM104B_000021 369/3600 344/2391 25/1209
1 c.20+176C>A r.(=) p.(=) g.55187394G>T Copied from the Exome Variant Server FAM104B_000020 24/3600 21/2391 3/1209
1 c.20+229del r.(=) p.(=) g.55187341del Copied from the Exome Variant Server FAM104B_000019 10/6948 9/4388 1/2560
1 c.21-41T>C r.(=) p.(=) g.55185702A>G Copied from the Exome Variant Server FAM104B_000018 2/10562 0/6727 2/3835
1 c.21-26A>G r.(=) p.(=) g.55185687T>C Copied from the Exome Variant Server FAM104B_000017 3/10562 0/6727 3/3835
1 c.21-25C>T r.(=) p.(=) g.55185686G>A Copied from the Exome Variant Server FAM104B_000016 1/10562 1/6727 0/3835
1 c.53A>G r.(?) p.(Asn18Ser) g.55185629T>C Copied from the Exome Variant Server FAM104B_000015 25/10563 0/6728 25/3835
1 c.99T>A r.(?) p.(Phe33Leu) g.55185583A>T Copied from the Exome Variant Server FAM104B_000014 9/10563 9/6728 0/3835
1 c.154C>T r.(?) p.(Arg52Cys) g.55172711G>A Copied from the Exome Variant Server FAM104B_000013 1/10563 1/6728 0/3835
1 c.179del r.(?) p.(Ser60Metfs*7) g.55172686del Copied from the Exome Variant Server FAM104B_000012 18/10205 17/6484 1/3721
1 c.202C>T r.(?) p.(Gln68*) g.55172663G>A Copied from the Exome Variant Server FAM104B_000011 1/10563 1/6728 0/3835
1 c.212C>G r.(?) p.(Thr71Ser) g.55172653G>C Copied from the Exome Variant Server FAM104B_000010 1/10563 0/6728 1/3835
1 c.219C>T r.(=) p.(=) g.55172646G>A Copied from the Exome Variant Server FAM104B_000009 3/10563 3/6728 0/3835
1 c.251+17_251+18insCAAG r.(=) p.(=) g.55172596_55172597insCTTG Copied from the Exome Variant Server FAM104B_000008 2/10205 2/6484 0/3721
1 c.251+27C>A r.(=) p.(=) g.55172587G>T Copied from the Exome Variant Server FAM104B_000007 1/10558 0/6723 1/3835
1 c.258_274del r.(?) p.(Pro88Leufs*8) g.55170286_55170302del Copied from the Exome Variant Server FAM104B_000006 1/10205 1/6484 0/3721
1 c.301G>A r.(?) p.(Glu101Lys) g.55170259C>T Copied from the Exome Variant Server FAM104B_000005 7/10563 0/6728 7/3835
1 c.305T>G r.(?) p.(Ile102Arg) g.55170255A>C Copied from the Exome Variant Server FAM104B_000004 1/10563 1/6728 0/3835
1 c.322C>T r.(?) p.(Gln108*) g.55170238G>A Copied from the Exome Variant Server FAM104B_000003 40/10563 1/6728 39/3835
1 c.*10T>C r.(=) p.(=) g.55170202A>G Copied from the Exome Variant Server FAM104B_000002 1/10563 1/6728 0/3835
1 c.*14C>T r.(=) p.(=) g.55170198G>A Copied from the Exome Variant Server FAM104B_000001 1/10563 1/6728 0/3835
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