Unique variants in gene BAALC

Information The variants shown are described using the NM_001024372.1 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.12C>T r.(=) p.(=) g.104153137C>T Copied from the Exome Variant Server BAALC_000001 900/11308 794/7556 106/3752
1 c.12_13insG r.(?) p.(Ser6Glufs*66) g.104153137_104153138insG Copied from the Exome Variant Server BAALC_000002 124/9154 80/6220 44/2934
1 c.24G>T r.(=) p.(=) g.104153149G>T Copied from the Exome Variant Server BAALC_000003 1/11810 0/7874 1/3936
1 c.39C>G r.(=) p.(=) g.104153164C>G Copied from the Exome Variant Server BAALC_000004 3/12398 2/8234 1/4164
1 c.136C>G r.(?) p.(Pro46Ala) g.104153261C>G Copied from the Exome Variant Server BAALC_000005 10/10906 0/7230 10/3676
1 c.161-15117C>A r.(=) p.(=) g.104225100C>A Copied from the Exome Variant Server BAALC_000006 1/13006 0/8600 1/4406
1 c.161-15111T>C r.(=) p.(=) g.104225106T>C Copied from the Exome Variant Server BAALC_000007 3/13006 0/8600 3/4406
1 c.161-15110G>A r.(=) p.(=) g.104225107G>A Copied from the Exome Variant Server BAALC_000008 1/13006 1/8600 0/4406
1 c.161-15080C>T r.(=) p.(=) g.104225137C>T Copied from the Exome Variant Server BAALC_000009 121/13006 1/8600 120/4406
1 c.161-15031G>A r.(=) p.(=) g.104225186G>A Copied from the Exome Variant Server BAALC_000010 1/13006 1/8600 0/4406
1 c.161-14989C>T r.(=) p.(=) g.104225228C>T Copied from the Exome Variant Server BAALC_000011 1/13006 1/8600 0/4406
1 c.161-14988G>A r.(=) p.(=) g.104225229G>A Copied from the Exome Variant Server BAALC_000012 2/13006 0/8600 2/4406
1 c.161-14962C>T r.(=) p.(=) g.104225255C>T Copied from the Exome Variant Server BAALC_000013 1/13006 1/8600 0/4406
1 c.161-14946A>G r.(=) p.(=) g.104225271A>G Copied from the Exome Variant Server BAALC_000014 1/13006 0/8600 1/4406
1 c.161-14867G>C r.(=) p.(=) g.104225350G>C Copied from the Exome Variant Server BAALC_000015 1/13006 1/8600 0/4406
1 c.*54G>C r.(=) p.(=) g.104240275G>C Copied from the Exome Variant Server BAALC_000016 396/13006 1/8600 395/4406
1 c.*68G>A r.(=) p.(=) g.104240289G>A Copied from the Exome Variant Server BAALC_000017 1/13006 0/8600 1/4406
1 c.*70C>A r.(=) p.(=) g.104240291C>A Copied from the Exome Variant Server BAALC_000018 1/13006 0/8600 1/4406
1 c.*77C>T r.(=) p.(=) g.104240298C>T Copied from the Exome Variant Server BAALC_000019 2/13006 0/8600 2/4406
1 c.*96G>A r.(=) p.(=) g.104240317G>A Copied from the Exome Variant Server BAALC_000020 2/13006 2/8600 0/4406
1 c.*101A>G r.(=) p.(=) g.104240322A>G Copied from the Exome Variant Server BAALC_000021 1/13006 1/8600 0/4406
1 c.*154del r.(=) p.(=) g.104240375del Copied from the Exome Variant Server BAALC_000022 2/12516 2/8254 0/4262
1 c.*155G>A r.(=) p.(=) g.104240376G>A Copied from the Exome Variant Server BAALC_000023 1/13006 0/8600 1/4406
Legend