Full data view for gene GLA

Information The variants shown are described using the NM_000169.2 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-30G>A r.(=) p.(=) g.100662921C>T Copied from the Exome Variant Server GLA_000047 86/10561 79/6727 7/3834 - - - - - - -
?/? c.-12G>A r.(=) p.(=) g.100662903C>T Copied from the Exome Variant Server GLA_000046 757/10563 204/6728 553/3835 - - - - - - -
?/? c.-10C>T r.(=) p.(=) g.100662901G>A Copied from the Exome Variant Server GLA_000045 663/10563 407/6728 256/3835 - - - - - - -
?/? c.-8C>G r.(=) p.(=) g.100662899G>C Copied from the Exome Variant Server GLA_000044 3/10563 3/6728 0/3835 - - - - - - -
?/? c.8T>C r.(?) p.(Leu3Pro) g.100662884A>G Copied from the Exome Variant Server GLA_000043 16/10563 0/6728 16/3835 - - - - - - -
?/? c.48T>G r.(=) p.(=) g.100662844A>C Copied from the Exome Variant Server GLA_000042 1/10563 1/6728 0/3835 - - - - - - -
?/? c.85G>A r.(?) p.(Ala29Thr) g.100662807C>T Copied from the Exome Variant Server GLA_000041 1/10563 0/6728 1/3835 - - - - - - -
?/? c.123C>T r.(=) p.(=) g.100662769G>A Copied from the Exome Variant Server GLA_000040 2/10563 2/6728 0/3835 - - - - - - -
?/? c.129C>T r.(=) p.(=) g.100662763G>A Copied from the Exome Variant Server GLA_000039 2/10563 1/6728 1/3835 - - - - - - -
?/? c.133C>T r.(=) p.(=) g.100662759G>A Copied from the Exome Variant Server GLA_000038 2/10563 2/6728 0/3835 - - - - - - -
?/? c.194+17A>G r.(=) p.(=) g.100662681T>C Copied from the Exome Variant Server GLA_000037 2/10563 1/6728 1/3835 - - - - - - -
?/? c.194+45T>C r.(=) p.(=) g.100662653A>G Copied from the Exome Variant Server GLA_000036 2/10563 1/6728 1/3835 - - - - - - -
?/? c.195-43T>C r.(=) p.(=) g.100659016A>G Copied from the Exome Variant Server GLA_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.335G>A r.(?) p.(Arg112His) g.100658833C>T Copied from the Exome Variant Server GLA_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.352C>T r.(?) p.(Arg118Cys) g.100658816G>A Copied from the Exome Variant Server GLA_000033 4/10563 4/6728 0/3835 - - - - - - -
?/? c.353G>A r.(?) p.(Arg118His) g.100658815C>T Copied from the Exome Variant Server GLA_000031 1/10563 0/6728 1/3835 - - - - - - -
?/? c.376A>G r.(?) p.(Ser126Gly) g.100656791T>C Copied from the Exome Variant Server GLA_000029 6/10563 6/6728 0/3835 - - - - - - -
?/? c.416A>G r.(?) p.(Asn139Ser) g.100656751T>C Copied from the Exome Variant Server GLA_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.419A>C r.(?) p.(Lys140Thr) g.100656748T>G Copied from the Exome Variant Server GLA_000025 1/10563 0/6728 1/3835 - - - - - - -
?/? c.427G>A r.(?) p.(Ala143Thr) g.100656740C>T Copied from the Exome Variant Server GLA_000023 9/10563 9/6728 0/3835 - - - - - - -
?/? c.457G>A r.(?) p.(Asp153Asn) g.100656710C>T Copied from the Exome Variant Server GLA_000021 2/10563 1/6728 1/3835 - - - - - - -
?/? c.548-50G>A r.(=) p.(=) g.100655795C>T Copied from the Exome Variant Server GLA_000019 1/10556 1/6724 0/3832 - - - - - - -
?/? c.548-2_548-1insT r.spl? p.? g.100655746_100655747insA Copied from the Exome Variant Server GLA_000032 1/10205 1/6484 0/3721 - - - - - - -
?/? c.619T>C r.(?) p.(Tyr207His) g.100655674A>G Copied from the Exome Variant Server GLA_000030 1/10563 0/6728 1/3835 - - - - - - -
?/? c.639+1_639+13del r.spl? p.? g.100655641_100655653del Copied from the Exome Variant Server GLA_000028 220/10205 129/6484 91/3721 - - - - - - -
?/? c.639+18G>A r.(=) p.(=) g.100655636C>T Copied from the Exome Variant Server GLA_000026 7/10563 0/6728 7/3835 - - - - - - -
?/? c.639+54C>T r.(=) p.(=) g.100655600G>A Copied from the Exome Variant Server GLA_000024 1/3600 0/2391 1/1209 - - - - - - -
?/? c.640-35G>T r.(=) p.(=) g.100653969C>A Copied from the Exome Variant Server GLA_000022 1/10562 0/6728 1/3834 - - - - - - -
?/? c.640-16A>G r.(=) p.(=) g.100653950T>C Copied from the Exome Variant Server GLA_000020 1381/10563 811/6728 570/3835 - - - - - - -
?/? c.705C>T r.(=) p.(=) g.100653869G>A Copied from the Exome Variant Server GLA_000018 1/10563 0/6728 1/3835 - - - - - - -
?/? c.755G>C r.(?) p.(Arg252Thr) g.100653819C>G Copied from the Exome Variant Server GLA_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.802-30_802-29del r.(=) p.(=) g.100653584_100653585del Copied from the Exome Variant Server GLA_000016 2/10201 2/6482 0/3719 - - - - - - -
?/? c.868A>C r.(?) p.(Met290Leu) g.100653489T>G Copied from the Exome Variant Server GLA_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.902G>T r.(?) p.(Arg301Leu) g.100653455C>A Copied from the Exome Variant Server GLA_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.937G>T r.(?) p.(Asp313Tyr) g.100653420C>A Copied from the Exome Variant Server GLA_000013 31/10563 29/6728 2/3835 - - - - - - -
?/? c.944A>G r.(?) p.(Asp315Gly) g.100653413T>C Copied from the Exome Variant Server GLA_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.945C>T r.(=) p.(=) g.100653412G>A Copied from the Exome Variant Server GLA_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.946G>A r.(?) p.(Val316Ile) g.100653411C>T Copied from the Exome Variant Server GLA_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.978G>A r.(=) p.(=) g.100653379C>T Copied from the Exome Variant Server GLA_000009 10/10563 0/6728 10/3835 - - - - - - -
?/? c.984G>T r.(=) p.(=) g.100653373C>A Copied from the Exome Variant Server GLA_000008 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1000-55_1000-52del r.(=) p.(=) g.100653139_100653142del Copied from the Exome Variant Server GLA_000007 147/10197 0/6479 147/3718 - - - - - - -
?/? c.1000-51_1000-50del r.(=) p.(=) g.100653137_100653138del Copied from the Exome Variant Server GLA_000006 1/10202 0/6484 1/3718 - - - - - - -
?/? c.1000-22C>T r.(=) p.(=) g.100653109G>A Copied from the Exome Variant Server GLA_000005 3858/10563 1064/6728 2794/3835 - - - - - - -
?/? c.1093T>A r.(?) p.(Tyr365Asn) g.100652994A>T Copied from the Exome Variant Server GLA_000004 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1102G>A r.(?) p.(Ala368Thr) g.100652985C>T Copied from the Exome Variant Server GLA_000003 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1184G>C r.(?) p.(Gly395Ala) g.100652903C>G Copied from the Exome Variant Server GLA_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1261A>G r.(?) p.(Met421Val) g.100652826T>C Copied from the Exome Variant Server GLA_000001 1/10563 0/6728 1/3835 - - - - - - -
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