Unique variants in gene H1FOO

Information The variants shown are described using the NM_153833.1 transcript reference sequence.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.16G>A r.(?) p.(Val6Ile) g.129262077G>A - H1FOO_000001 rs118098064 0.031 16 516 7053 - - Admin
./. 1 - c.88+119_88+120insCACCCAGCACT r.(=) p.(=) g.129262268_129262269insCACCCAGCACT - H1FOO_000002 rs879757557 - - - - - - Admin
./. 1 - c.88+141_88+142insCACCCAGCACC r.(=) p.(=) g.129262290_129262291insCACCCAGCACC - H1FOO_000003 rs755193609 - - - - - - Admin
./. 1 - c.88+141_88+142insCACCCAGCACCCACCCAGCACC r.(=) p.(=) g.129262290_129262291insCACCCAGCACCCACCCAGCACC - H1FOO_000004 rs755193609 - - - - - - Admin
./. 1 - c.89-142G>C r.(=) p.(=) g.129266092G>C - H1FOO_000005 rs150016562 0.001938 1 516 4029 - - Admin
./. 1 - c.89-128G>A r.(=) p.(=) g.129266106G>A - H1FOO_000006 rs181912234 0.001938 1 516 4394 - - Admin
./. 1 - c.89-72C>G r.(=) p.(=) g.129266162C>G - H1FOO_000007 rs2713617 0.211 109 516 5958 - - Admin
./. 1 - c.89-14C>T r.(=) p.(=) g.129266220C>T - H1FOO_000008 rs184960891 0.012 6 516 7242 - - Admin
./. 1 - c.144G>A r.(=) p.(=) g.129266289G>A - H1FOO_000009 rs772051479 0.001938 1 516 7862 - - Admin
./. 1 - c.379-117A>G r.(=) p.(=) g.129267727A>G - H1FOO_000010 rs73863109 0.023 12 516 4427 - - Admin
./. 1 - c.379-98del r.(=) p.(=) g.129267746del - H1FOO_000011 rs541715177 0.023 12 516 4427 - - Admin
./. 1 - c.379-15C>G r.(=) p.(=) g.129267829C>G - H1FOO_000012 rs771270199 0.001938 1 516 9015 - - Admin
./. 1 - c.379-14G>T r.(=) p.(=) g.129267830G>T - H1FOO_000013 rs141826260 0.021 11 516 9229 - - Admin
./. 1 - c.445G>A r.(?) p.(Ala149Thr) g.129267910G>A - H1FOO_000015 rs61737314 0.056 29 516 9483 - - Admin
./. 1 - c.450T>C r.(=) p.(=) g.129267915T>C - H1FOO_000017 rs60616647 0.033 17 516 9250 - - Admin
./. 1 - c.608C>T r.(?) p.(Ala203Val) g.129268073C>T - H1FOO_000019 rs138486444 0.005814 3 516 7261 - - Admin
./. 1 - c.731G>T r.(?) p.(Arg244Met) g.129268196G>T - H1FOO_000021 rs77338164 0.005814 3 516 3529 - - Admin
./. 1 - c.742+20G>T r.(=) p.(=) g.129268227G>T - H1FOO_000023 rs147728538 0.003876 2 516 2710 - - Admin
./. 1 - c.743-52C>T r.(=) p.(=) g.129269536C>T - H1FOO_000025 rs185134173 0.001938 1 516 6578 - - Admin
./. 1 - c.807+50C>G r.(=) p.(=) g.129269702C>G - H1FOO_000014 rs1383160275 0.001938 1 516 2430 1 - Admin
./. 1 - c.807+90T>G r.(=) p.(=) g.129269742T>G - H1FOO_000016 rs56690036 0.069 35 510 1665 - - Admin
./. 1 - c.808-6G>A r.(=) p.(=) g.129269944G>A - H1FOO_000018 rs76820756 0.003876 2 516 4019 - - Admin
./. 1 - c.819T>C r.(=) p.(=) g.129269961T>C - H1FOO_000020 rs3736170 0.031 16 516 4316 - - Admin
./. 1 - c.887A>G r.(?) p.(Asn296Ser) g.129270029A>G - H1FOO_000022 rs59415528 0.023 12 516 5934 - - Admin
./. 1 - c.903T>C r.(=) p.(=) g.129270045T>C - H1FOO_000024 rs2625968 0.003876 2 516 6255 - - Admin
./. 1 - c.963C>T r.(=) p.(=) g.129270105C>T - H1FOO_000026 rs780636586 0.001938 1 516 7239 - - Admin
./. 1 - c.975T>G r.(=) p.(=) g.129270117T>G - H1FOO_000027 rs34517542 0.001938 1 516 7372 - - Admin
./. 1 - c.990G>A r.(=) p.(=) g.129270132G>A - H1FOO_000028 rs114156301 0.001938 1 516 7516 - - Admin
./. 1 - c.*88C>T r.(=) p.(=) g.129270271C>T - H1FOO_000029 rs113329769 0.009881 5 506 2011 - - Admin
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