Unique variants in gene GOLT1A

Information The variants shown are described using the NM_198447.1 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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.-17C>G r.(=) p.(=) g.204183051G>C Copied from the Exome Variant Server GOLT1A_000037 1/13006 1/8600 0/4406
1 c.10A>G r.(?) p.(Ile4Val) g.204183025T>C Copied from the Exome Variant Server GOLT1A_000036 1/13006 0/8600 1/4406
1 c.25+13A>C r.(=) p.(=) g.204182997T>G Copied from the Exome Variant Server GOLT1A_000035 1/13006 1/8600 0/4406
1 c.25+35C>T r.(=) p.(=) g.204182975G>A Copied from the Exome Variant Server GOLT1A_000034 1/13006 1/8600 0/4406
1 c.25+83G>T r.(=) p.(=) g.204182927C>A Copied from the Exome Variant Server GOLT1A_000033 1/4566 0/3182 1/1384
1 c.26-31C>T r.(=) p.(=) g.204172146G>A Copied from the Exome Variant Server GOLT1A_000032 4/13006 0/8600 4/4406
1 c.45C>T r.(=) p.(=) g.204172096G>A Copied from the Exome Variant Server GOLT1A_000031 1442/13006 470/8600 972/4406
1 c.46G>A r.(?) p.(Gly16Ser) g.204172095C>T Copied from the Exome Variant Server GOLT1A_000030 2/13006 0/8600 2/4406
1 c.51C>T r.(=) p.(=) g.204172090G>A Copied from the Exome Variant Server GOLT1A_000029 199/13006 185/8600 14/4406
1 c.52G>A r.(?) p.(Gly18Ser) g.204172089C>T Copied from the Exome Variant Server GOLT1A_000028 1/13006 1/8600 0/4406
1 c.53G>A r.(?) p.(Gly18Asp) g.204172088C>T Copied from the Exome Variant Server GOLT1A_000027 1/13006 0/8600 1/4406
1 c.60C>A r.(?) p.(Phe20Leu) g.204172081G>T Copied from the Exome Variant Server GOLT1A_000026 1/13006 1/8600 0/4406
1 c.72T>C r.(=) p.(=) g.204172069A>G Copied from the Exome Variant Server GOLT1A_000025 4/13006 3/8600 1/4406
1 c.81C>G r.(=) p.(=) g.204172060G>C Copied from the Exome Variant Server GOLT1A_000024 1458/13006 473/8600 985/4406
1 c.96C>T r.(=) p.(=) g.204172045G>A Copied from the Exome Variant Server GOLT1A_000023 3/13006 0/8600 3/4406
1 c.117+1G>A r.spl? p.? g.204172023C>T Copied from the Exome Variant Server GOLT1A_000022 1/13006 0/8600 1/4406
1 c.117+3G>A r.spl? p.? g.204172021C>T Copied from the Exome Variant Server GOLT1A_000021 5/13006 5/8600 0/4406
1 c.117+34G>A r.(=) p.(=) g.204171990C>T Copied from the Exome Variant Server GOLT1A_000020 1/13006 1/8600 0/4406
1 c.118-16C>G r.(=) p.(=) g.204170955G>C Copied from the Exome Variant Server GOLT1A_000019 1/13006 0/8600 1/4406
1 c.142C>T r.(?) p.(Leu48Phe) g.204170915G>A Copied from the Exome Variant Server GOLT1A_000018 1/13006 1/8600 0/4406
1 c.184C>A r.(=) p.(=) g.204170873G>T Copied from the Exome Variant Server GOLT1A_000017 37/13006 34/8600 3/4406
1 c.185G>A r.(?) p.(Arg62Gln) g.204170872C>T Copied from the Exome Variant Server GOLT1A_000016 1/13006 1/8600 0/4406
1 c.232G>A r.(?) p.(Val78Met) g.204170825C>T Copied from the Exome Variant Server GOLT1A_000015 8/13006 7/8600 1/4406
1 c.239T>C r.(?) p.(Leu80Pro) g.204170818A>G Copied from the Exome Variant Server GOLT1A_000014 1/13006 1/8600 0/4406
1 c.242G>A r.(?) p.(Arg81His) g.204170815C>T Copied from the Exome Variant Server GOLT1A_000013 1/13006 1/8600 0/4406
1 c.256G>A r.(?) p.(Gly86Ser) g.204170801C>T Copied from the Exome Variant Server GOLT1A_000012 3/13006 2/8600 1/4406
1 c.276C>T r.(=) p.(=) g.204170781G>A Copied from the Exome Variant Server GOLT1A_000011 1/13006 1/8600 0/4406
1 c.296+7G>A r.(=) p.(=) g.204170754C>T Copied from the Exome Variant Server GOLT1A_000010 1/13006 0/8600 1/4406
1 c.296+38A>G r.(=) p.(=) g.204170723T>C Copied from the Exome Variant Server GOLT1A_000009 184/13006 0/8600 184/4406
1 c.312C>T r.(=) p.(=) g.204168371G>A Copied from the Exome Variant Server GOLT1A_000008 2/13004 2/8598 0/4406
1 c.354G>A r.(=) p.(=) g.204168329C>T Copied from the Exome Variant Server GOLT1A_000007 1/13002 0/8596 1/4406
1 c.360+54G>A r.(=) p.(=) g.204168269C>T Copied from the Exome Variant Server GOLT1A_000006 23/4566 0/3182 23/1384
1 c.361-48A>G r.(=) p.(=) g.204167672T>C Copied from the Exome Variant Server GOLT1A_000005 2402/13006 1257/8600 1145/4406
1 c.361-37A>G r.(=) p.(=) g.204167661T>C Copied from the Exome Variant Server GOLT1A_000004 50/13006 0/8600 50/4406
1 c.367C>T r.(?) p.(Arg123Trp) g.204167618G>A Copied from the Exome Variant Server GOLT1A_000003 1/13006 1/8600 0/4406
1 c.368G>A r.(?) p.(Arg123Gln) g.204167617C>T Copied from the Exome Variant Server GOLT1A_000002 4/13006 1/8600 3/4406
1 c.386G>A r.(?) p.(Ser129Asn) g.204167599C>T Copied from the Exome Variant Server GOLT1A_000001 1/13006 1/8600 0/4406
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