All transcript variants in gene BGLAP

Information The variants shown are described using the NM_199173.4 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-30G>T r.(=) p.(=) g.156211993G>T Copied from the Exome Variant Server PMF1-BGLAP_000001 1/13000 1/8598 0/4402
?/? c.-18C>T r.(=) p.(=) g.156212005C>T Copied from the Exome Variant Server PMF1-BGLAP_000002 1/12998 0/8598 1/4400
?/? c.-9C>T r.(=) p.(=) g.156212014C>T Copied from the Exome Variant Server PMF1-BGLAP_000003 2/13002 0/8598 2/4404
?/? c.27A>T r.(=) p.(=) g.156212049A>T Copied from the Exome Variant Server PMF1-BGLAP_000004 1/13002 1/8598 0/4404
?/? c.39C>T r.(=) p.(=) g.156212061C>T Copied from the Exome Variant Server PMF1-BGLAP_000005 5/13002 0/8598 5/4404
?/? c.46T>C r.(?) p.(Cys16Arg) g.156212068T>C Copied from the Exome Variant Server PMF1-BGLAP_000006 6/13002 0/8598 6/4404
?/? c.64+18C>T r.(=) p.(=) g.156212104C>T Copied from the Exome Variant Server PMF1-BGLAP_000007 1/13002 0/8600 1/4402
?/? c.64+40G>A r.(=) p.(=) g.156212126G>A Copied from the Exome Variant Server PMF1-BGLAP_000009 1/12996 1/8594 0/4402
?/? c.65-72C>T r.(=) p.(=) g.156212272C>T Copied from the Exome Variant Server PMF1-BGLAP_000011 2/4566 0/3182 2/1384
?/? c.65-67C>T r.(=) p.(=) g.156212277C>T Copied from the Exome Variant Server PMF1-BGLAP_000013 1/4566 0/3182 1/1384
?/? c.68C>T r.(?) p.(Ala23Val) g.156212347C>T Copied from the Exome Variant Server PMF1-BGLAP_000015 1/12606 0/8310 1/4296
?/? c.79del r.(?) p.(Gly27Valfs*19) g.156212358del Copied from the Exome Variant Server PMF1-BGLAP_000017 24/12168 2/7998 22/4170
?/? c.79G>A r.(?) p.(Gly27Ser) g.156212358G>A Copied from the Exome Variant Server PMF1-BGLAP_000018 2/12702 0/8392 2/4310
?/? c.81T>C r.(=) p.(=) g.156212360T>C Copied from the Exome Variant Server PMF1-BGLAP_000020 18/12716 14/8396 4/4320
?/? c.103+57G>A r.(=) p.(=) g.156212439G>A Copied from the Exome Variant Server PMF1-BGLAP_000022 1/4566 1/3182 0/1384
?/? c.103+83C>T r.(=) p.(=) g.156212465C>T Copied from the Exome Variant Server PMF1-BGLAP_000024 9/4566 1/3182 8/1384
?/? c.104-51C>T r.(=) p.(=) g.156212502C>T Copied from the Exome Variant Server PMF1-BGLAP_000026 4/13006 3/8600 1/4406
?/? c.104-14C>T r.(=) p.(=) g.156212539C>T Copied from the Exome Variant Server PMF1-BGLAP_000028 1/13006 1/8600 0/4406
?/? c.104-5C>T r.spl? p.? g.156212548C>T Copied from the Exome Variant Server PMF1-BGLAP_000030 3/13006 0/8600 3/4406
?/? c.106del r.(?) p.(Phe36Leufs*10) g.156212555del Copied from the Exome Variant Server PMF1-BGLAP_000032 21/12520 13/8254 8/4266
?/? c.138_142del r.(?) p.(Lys47Thrfs*27) g.156212587_156212591del Copied from the Exome Variant Server PMF1-BGLAP_000034 1/12520 0/8254 1/4266
?/? c.144A>C r.(?) p.(Arg48Ser) g.156212593A>C Copied from the Exome Variant Server PMF1-BGLAP_000008 1/13006 1/8600 0/4406
?/? c.162_163insC r.(?) p.(Gln55Profs*21) g.156212611_156212612insC Copied from the Exome Variant Server PMF1-BGLAP_000010 1/12520 0/8254 1/4266
?/? c.173+42G>A r.(=) p.(=) g.156212664G>A Copied from the Exome Variant Server PMF1-BGLAP_000012 1/13002 1/8596 0/4406
?/? c.174-33C>T r.(=) p.(=) g.156212791C>T Copied from the Exome Variant Server PMF1-BGLAP_000014 1/13006 0/8600 1/4406
?/? c.174-21C>T r.(=) p.(=) g.156212803C>T Copied from the Exome Variant Server PMF1-BGLAP_000016 2/13006 2/8600 0/4406
?/? c.174-14G>A r.(=) p.(=) g.156212810G>A Copied from the Exome Variant Server PMF1-BGLAP_000019 2/13006 2/8600 0/4406
?/? c.174-7G>A r.(=) p.(=) g.156212817G>A Copied from the Exome Variant Server PMF1-BGLAP_000021 1/13006 0/8600 1/4406
?/? c.175del r.(?) p.(Ala59Profs*100) g.156212825del Copied from the Exome Variant Server PMF1-BGLAP_000023 1/12520 0/8254 1/4266
?/? c.180A>T r.(=) p.(=) g.156212830A>T Copied from the Exome Variant Server PMF1-BGLAP_000025 6/13006 0/8600 6/4406
?/? c.195T>A r.(?) p.(Asp65Glu) g.156212845T>A Copied from the Exome Variant Server PMF1-BGLAP_000027 1/13006 1/8600 0/4406
?/? c.216G>A r.(=) p.(=) g.156212866G>A Copied from the Exome Variant Server PMF1-BGLAP_000029 1/13006 0/8600 1/4406
?/? c.222T>A r.(?) p.(Cys74*) g.156212872T>A Copied from the Exome Variant Server PMF1-BGLAP_000031 7/13006 7/8600 0/4406
?/? c.233C>T r.(?) p.(Pro78Leu) g.156212883C>T Copied from the Exome Variant Server PMF1-BGLAP_000033 1/13006 1/8600 0/4406
?/? c.244G>A r.(?) p.(Glu82Lys) g.156212894G>A Copied from the Exome Variant Server PMF1-BGLAP_000035 94/13006 0/8600 94/4406
?/? c.249G>A r.(=) p.(=) g.156212899G>A Copied from the Exome Variant Server PMF1-BGLAP_000036 1/13006 0/8600 1/4406
?/? c.251C>T r.(?) p.(Ala84Val) g.156212901C>T Copied from the Exome Variant Server PMF1-BGLAP_000037 1/13006 1/8600 0/4406
?/? c.256_257del r.(?) p.(Ile87Argfs*61) g.156212906_156212907del Copied from the Exome Variant Server PMF1-BGLAP_000038 1/12520 0/8254 1/4266
?/? c.261C>T r.(=) p.(=) g.156212911C>T Copied from the Exome Variant Server PMF1-BGLAP_000039 3/13006 3/8600 0/4406
?/? c.262G>A r.(?) p.(Gly88Ser) g.156212912G>A Copied from the Exome Variant Server PMF1-BGLAP_000040 2/13006 0/8600 2/4406
?/? c.276C>G r.(=) p.(=) g.156212926C>G Copied from the Exome Variant Server PMF1-BGLAP_000041 173/13006 1/8600 172/4406
?/? c.281G>A r.(?) p.(Arg94Gln) g.156212931G>A Copied from the Exome Variant Server PMF1-BGLAP_000042 218/13006 1/8600 217/4406
?/? c.300C>G r.(=) p.(=) g.156212950C>G Copied from the Exome Variant Server PMF1-BGLAP_000043 1/13006 1/8600 0/4406
?/? c.*7G>A r.(=) p.(=) g.156212960G>A Copied from the Exome Variant Server PMF1-BGLAP_000044 1/13006 1/8600 0/4406
?/? c.*23C>T r.(=) p.(=) g.156212976C>T Copied from the Exome Variant Server PMF1-BGLAP_000045 1/13006 0/8600 1/4406
?/? c.*29C>T r.(=) p.(=) g.156212982C>T Copied from the Exome Variant Server PMF1-BGLAP_000046 1/13006 1/8600 0/4406
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