Unique variants in gene IAH1

Information The variants shown are described using the NM_001039613.1 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.81+568C>G - - g.9615344C>G - IAH1_000005 rs183514853 0.014 7 516 8448 - - Admin
./. 1 - c.81+647C>T r.(=) p.(=) g.9615423C>T - IAH1_000006 rs1202422189 0.001938 1 516 8085 1 - Admin
./. 1 - c.82-571C>T r.(=) p.(=) g.9615545C>T - IAH1_000007 rs962306514 0.001961 1 510 2302 1 - Admin
./. 1 - c.82-560T>C r.(=) p.(=) g.9615556T>C - IAH1_000008 rs6432007 0.563 276 490 1914 - - Admin
./. 1 - c.82-94_82-93del r.(=) p.(=) g.9616022_9616023del - IAH1_000009 rs544156881 0.001976 1 506 1391 - - Admin
./. 1 - c.82-81A>G r.(=) p.(=) g.9616035A>G - IAH1_000010 rs7591166 0.451 228 506 1793 - - Admin
./. 1 - c.82-55G>A r.(=) p.(=) g.9616061G>A - IAH1_000011 rs61744021 0.012 6 516 2586 - - Admin
./. 1 - c.127C>G r.(?) p.(Leu43Val) g.9616161C>G - IAH1_000012 rs61732203 0.014 7 516 5190 - - Admin
./. 1 - c.134+134_134+136del r.(=) p.(=) g.9616302_9616304del - IAH1_000013 rs3831465 0.001961 1 510 2302 1 - Admin
./. 1 - c.284-93C>T r.(=) p.(=) g.9621322C>T - IAH1_000014 rs77857049 0.012 6 516 5887 - - Admin
./. 1 - c.446-8T>G r.(=) p.(=) g.9624553T>G - IAH1_000015 rs6759574 0.05 26 516 7671 - - Admin
./. 1 - c.528C>T r.(=) p.(=) g.9624643C>T - IAH1_000001 rs61737635 0.023 12 516 7202 - - Admin
./. 1 - c.564+25_564+26insG r.(=) p.(=) g.9624704_9624705insG - IAH1_000002 rs397769024 - - - - - - Admin
./. 1 - c.*67C>A r.(=) p.(=) g.9628525C>A - IAH1_000003 rs116208804 0.001938 1 516 6338 - - Admin
./. 1 - c.*138A>G r.spl? p.? g.9628596A>G - IAH1_000004 rs115740862 0.007782 4 514 2225 - - Admin
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