All transcript variants in gene GLUD2

Information The variants shown are described using the NM_012084.3 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-36C>T r.(=) p.(=) g.120181503C>T Copied from the Exome Variant Server GLUD2_000001 12/7672 10/4868 2/2804
?/? c.8G>C r.(?) p.(Arg3Pro) g.120181546G>C Copied from the Exome Variant Server GLUD2_000002 1/7490 1/4758 0/2732
?/? c.38G>T r.(?) p.(Arg13Leu) g.120181576G>T Copied from the Exome Variant Server GLUD2_000003 1/7633 1/4862 0/2771
?/? c.74A>G r.(?) p.(His25Arg) g.120181612A>G Copied from the Exome Variant Server GLUD2_000004 2/7681 0/4925 2/2756
?/? c.101G>T r.(?) p.(Arg34Leu) g.120181639G>T Copied from the Exome Variant Server GLUD2_000005 2/8338 0/5442 2/2896
?/? c.145G>A r.(?) p.(Ala49Thr) g.120181683G>A Copied from the Exome Variant Server GLUD2_000006 1/10444 1/6660 0/3784
?/? c.179G>T r.(?) p.(Arg60Leu) g.120181717G>T Copied from the Exome Variant Server GLUD2_000007 23/10557 0/6723 23/3834
?/? c.257T>G r.(?) p.(Val86Gly) g.120181795T>G Copied from the Exome Variant Server GLUD2_000008 4/10563 3/6728 1/3835
?/? c.302G>C r.(?) p.(Arg101Pro) g.120181840G>C Copied from the Exome Variant Server GLUD2_000009 1/10563 0/6728 1/3835
?/? c.327C>T r.(=) p.(=) g.120181865C>T Copied from the Exome Variant Server GLUD2_000010 1/10559 0/6724 1/3835
?/? c.341A>G r.(?) p.(His114Arg) g.120181879A>G Copied from the Exome Variant Server GLUD2_000011 1/10557 1/6722 0/3835
?/? c.406C>A r.(=) p.(=) g.120181944C>A Copied from the Exome Variant Server GLUD2_000012 1/10557 1/6724 0/3833
?/? c.412C>T r.(?) p.(Gln138*) g.120181950C>T Copied from the Exome Variant Server GLUD2_000013 4/10563 4/6728 0/3835
?/? c.431C>T r.(?) p.(Thr144Met) g.120181969C>T Copied from the Exome Variant Server GLUD2_000014 4/10561 4/6728 0/3833
?/? c.460A>C r.(?) p.(Thr154Pro) g.120181998A>C Copied from the Exome Variant Server GLUD2_000015 7/10563 0/6728 7/3835
?/? c.470G>T r.(?) p.(Ser157Ile) g.120182008G>T Copied from the Exome Variant Server GLUD2_000016 1/10563 1/6728 0/3835
?/? c.476A>T r.(?) p.(Asp159Val) g.120182014A>T Copied from the Exome Variant Server GLUD2_000018 1/10563 1/6728 0/3835
?/? c.561G>A r.(=) p.(=) g.120182099G>A Copied from the Exome Variant Server GLUD2_000020 1/10563 1/6728 0/3835
?/? c.564C>T r.(=) p.(=) g.120182102C>T Copied from the Exome Variant Server GLUD2_000023 1/10563 0/6728 1/3835
?/? c.646G>C r.(?) p.(Gly216Arg) g.120182184G>C Copied from the Exome Variant Server GLUD2_000024 1/10563 0/6728 1/3835
?/? c.696G>A r.(=) p.(=) g.120182234G>A Copied from the Exome Variant Server GLUD2_000026 1/10563 0/6728 1/3835
?/? c.712G>A r.(?) p.(Asp238Asn) g.120182250G>A Copied from the Exome Variant Server GLUD2_000028 1/10563 0/6728 1/3835
?/? c.819C>T r.(=) p.(=) g.120182357C>T Copied from the Exome Variant Server GLUD2_000030 2/10563 0/6728 2/3835
?/? c.860C>T r.(?) p.(Ala287Val) g.120182398C>T Copied from the Exome Variant Server GLUD2_000032 1/10563 0/6728 1/3835
?/? c.887C>T r.(?) p.(Thr296Ile) g.120182425C>T Copied from the Exome Variant Server GLUD2_000034 1/10563 1/6728 0/3835
?/? c.1011A>G r.(?) p.(Ile337Met) g.120182549A>G Copied from the Exome Variant Server GLUD2_000017 1/10559 1/6724 0/3835
?/? c.1027A>G r.(?) p.(Ile343Val) g.120182565A>G Copied from the Exome Variant Server GLUD2_000019 1/10563 0/6728 1/3835
?/? c.1125C>T r.(=) p.(=) g.120182663C>T Copied from the Exome Variant Server GLUD2_000021 1/10563 1/6728 0/3835
?/? c.1184G>A r.(?) p.(Arg395Lys) g.120182722G>A Copied from the Exome Variant Server GLUD2_000022 7/10563 0/6728 7/3835
?/? c.1229C>T r.(?) p.(Thr410Ile) g.120182767C>T Copied from the Exome Variant Server GLUD2_000025 1/10563 0/6728 1/3835
?/? c.1241A>G r.(?) p.(Asp414Gly) g.120182779A>G Copied from the Exome Variant Server GLUD2_000027 95/10563 0/6728 95/3835
?/? c.1260A>G r.(=) p.(=) g.120182798A>G Copied from the Exome Variant Server GLUD2_000029 1/10563 1/6728 0/3835
?/? c.1443T>C r.(=) p.(=) g.120182981T>C Copied from the Exome Variant Server GLUD2_000031 1/10563 0/6728 1/3835
?/? c.1469C>T r.(?) p.(Thr490Met) g.120183007C>T Copied from the Exome Variant Server GLUD2_000033 1/10563 1/6728 0/3835
?/? c.1492T>G r.(?) p.(Ser498Ala) g.120183030T>G Copied from the Exome Variant Server GLUD2_000035 390/10563 182/6728 208/3835
?/? c.1493C>T r.(?) p.(Ser498Leu) g.120183031C>T Copied from the Exome Variant Server GLUD2_000036 1/10563 0/6728 1/3835
?/? c.1592G>A r.(?) p.(Gly531Glu) g.120183130G>A Copied from the Exome Variant Server GLUD2_000037 1/10563 1/6728 0/3835
?/? c.1668C>A r.(=) p.(=) g.120183206C>A Copied from the Exome Variant Server GLUD2_000038 1/10563 1/6728 0/3835
?/? c.*10G>A r.(=) p.(=) g.120183225G>A Copied from the Exome Variant Server GLUD2_000039 3/10563 3/6728 0/3835
?/? c.*36C>T r.(=) p.(=) g.120183251C>T Copied from the Exome Variant Server GLUD2_000040 343/10563 1/6728 342/3835
Legend