Full data view for gene A4GALT

Information The variants shown are described using the NM_017436.4 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.41G>A r.(?) p.(Gly14Asp) g.43089917C>T Copied from the Exome Variant Server A4GALT_000057 1/12988 1/8590 0/4398 - - - - - - -
?/? c.54G>A r.(=) p.(=) g.43089904C>T Copied from the Exome Variant Server A4GALT_000056 1/13000 1/8596 0/4404 - - - - - - -
?/? c.78C>T r.(=) p.(=) g.43089880G>A Copied from the Exome Variant Server A4GALT_000055 1/13004 1/8598 0/4406 - - - - - - -
?/? c.93G>A r.(=) p.(=) g.43089865C>T Copied from the Exome Variant Server A4GALT_000054 10/13004 0/8598 10/4406 - - - - - - -
?/? c.100G>A r.(?) p.(Val34Ile) g.43089858C>T Copied from the Exome Variant Server A4GALT_000053 1/13004 1/8598 0/4406 - - - - - - -
?/? c.102C>T r.(=) p.(=) g.43089856G>A Copied from the Exome Variant Server A4GALT_000052 1/13004 0/8598 1/4406 - - - - - - -
?/? c.109A>G r.(?) p.(Met37Val) g.43089849T>C Copied from the Exome Variant Server A4GALT_000051 5258/13002 3183/8598 2075/4404 - - - - - - -
?/? c.114C>G r.(?) p.(Ile38Met) g.43089844G>C Copied from the Exome Variant Server A4GALT_000050 1/13002 0/8598 1/4404 - - - - - - -
?/? c.125T>C r.(?) p.(Val42Ala) g.43089833A>G Copied from the Exome Variant Server A4GALT_000049 4/13000 4/8596 0/4404 - - - - - - -
?/? c.203C>T r.(?) p.(Thr68Ile) g.43089755G>A Copied from the Exome Variant Server A4GALT_000048 2/12974 2/8582 0/4392 - - - - - - -
?/? c.205C>T r.(?) p.(Pro69Ser) g.43089753G>A Copied from the Exome Variant Server A4GALT_000047 1/12978 1/8582 0/4396 - - - - - - -
?/? c.216C>T r.(=) p.(=) g.43089742G>A Copied from the Exome Variant Server A4GALT_000046 1/13000 0/8596 1/4404 - - - - - - -
?/? c.253T>A r.(?) p.(Ser85Thr) g.43089705A>T Copied from the Exome Variant Server A4GALT_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.259C>T r.(?) p.(Arg87Trp) g.43089699G>A Copied from the Exome Variant Server A4GALT_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.260G>A r.(?) p.(Arg87Gln) g.43089698C>T Copied from the Exome Variant Server A4GALT_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.290C>T r.(?) p.(Ser97Leu) g.43089668G>A Copied from the Exome Variant Server A4GALT_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.300G>C r.(=) p.(=) g.43089658C>G Copied from the Exome Variant Server A4GALT_000041 224/13006 15/8600 209/4406 - - - - - - -
?/? c.306C>G r.(=) p.(=) g.43089652G>C Copied from the Exome Variant Server A4GALT_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.358G>A r.(?) p.(Gly120Ser) g.43089600C>T Copied from the Exome Variant Server A4GALT_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.367T>C r.(?) p.(Ser123Pro) g.43089591A>G Copied from the Exome Variant Server A4GALT_000038 47/13006 0/8600 47/4406 - - - - - - -
?/? c.376C>T r.(?) p.(Arg126Trp) g.43089582G>A Copied from the Exome Variant Server A4GALT_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.382C>T r.(=) p.(=) g.43089576G>A Copied from the Exome Variant Server A4GALT_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.385G>A r.(?) p.(Gly129Ser) g.43089573C>T Copied from the Exome Variant Server A4GALT_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.441G>A r.(=) p.(=) g.43089517C>T Copied from the Exome Variant Server A4GALT_000034 63/13004 1/8600 62/4404 - - - - - - -
?/? c.444G>A r.(=) p.(=) g.43089514C>T Copied from the Exome Variant Server A4GALT_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.488A>G r.(?) p.(Gln163Arg) g.43089470T>C Copied from the Exome Variant Server A4GALT_000032 204/13006 4/8600 200/4406 - - - - - - -
?/? c.494G>A r.(?) p.(Arg165His) g.43089464C>T Copied from the Exome Variant Server A4GALT_000031 12/13006 0/8600 12/4406 - - - - - - -
?/? c.526G>A r.(?) p.(Asp176Asn) g.43089432C>T Copied from the Exome Variant Server A4GALT_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.547_548del r.(?) p.(Met183Valfs*99) g.43089410_43089411del Copied from the Exome Variant Server A4GALT_000029 1/12518 1/8254 0/4264 - - - - - - -
?/? c.558C>T r.(=) p.(=) g.43089400G>A Copied from the Exome Variant Server A4GALT_000028 81/13006 75/8600 6/4406 - - - - - - -
?/? c.605G>A r.(?) p.(Arg202Gln) g.43089353C>T Copied from the Exome Variant Server A4GALT_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.647T>G r.(?) p.(Leu216Arg) g.43089311A>C Copied from the Exome Variant Server A4GALT_000026 1/13004 0/8598 1/4406 - - - - - - -
?/? c.654C>T r.(=) p.(=) g.43089304G>A Copied from the Exome Variant Server A4GALT_000025 1/13004 1/8598 0/4406 - - - - - - -
?/? c.656C>T r.(?) p.(Ala219Val) g.43089302G>A Copied from the Exome Variant Server A4GALT_000024 1/13004 0/8598 1/4406 - - - - - - -
?/? c.669C>T r.(=) p.(=) g.43089289G>A Copied from the Exome Variant Server A4GALT_000023 300/13006 0/8600 300/4406 - - - - - - -
?/? c.670G>T r.(?) p.(Glu224*) g.43089288C>A Copied from the Exome Variant Server A4GALT_000022 4/13006 0/8600 4/4406 - - - - - - -
?/? c.675C>T r.(=) p.(=) g.43089283G>A Copied from the Exome Variant Server A4GALT_000021 2/13006 2/8600 0/4406 - - - - - - -
?/? c.700A>G r.(?) p.(Met234Val) g.43089258T>C Copied from the Exome Variant Server A4GALT_000020 1/12996 0/8596 1/4400 - - - - - - -
?/? c.752C>T r.(?) p.(Pro251Leu) g.43089206G>A Copied from the Exome Variant Server A4GALT_000019 1/12980 1/8586 0/4394 - - - - - - -
?/? c.822C>T r.(=) p.(=) g.43089136G>A Copied from the Exome Variant Server A4GALT_000018 2/13000 0/8596 2/4404 - - - - - - -
?/? c.871G>T r.(?) p.(Asp291Tyr) g.43089087C>A Copied from the Exome Variant Server A4GALT_000017 1/13004 1/8600 0/4404 - - - - - - -
?/? c.903C>G r.(=) p.(=) g.43089055G>C Copied from the Exome Variant Server A4GALT_000016 8495/13004 4885/8600 3610/4404 - - - - - - -
?/? c.914C>T r.(?) p.(Pro305Leu) g.43089044G>A Copied from the Exome Variant Server A4GALT_000015 4/13006 0/8600 4/4406 - - - - - - -
?/? c.920T>C r.(?) p.(Leu307Pro) g.43089038A>G Copied from the Exome Variant Server A4GALT_000014 3/13006 3/8600 0/4406 - - - - - - -
?/? c.930C>T r.(=) p.(=) g.43089028G>A Copied from the Exome Variant Server A4GALT_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.936T>C r.(=) p.(=) g.43089022A>G Copied from the Exome Variant Server A4GALT_000012 2/13006 2/8600 0/4406 - - - - - - -
?/? c.942C>G r.(=) p.(=) g.43089016G>C Copied from the Exome Variant Server A4GALT_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.969C>T r.(=) p.(=) g.43088989G>A Copied from the Exome Variant Server A4GALT_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.974G>C r.(?) p.(Arg325Pro) g.43088984C>G Copied from the Exome Variant Server A4GALT_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.985A>G r.(?) p.(Thr329Ala) g.43088973T>C Copied from the Exome Variant Server A4GALT_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.987G>A r.(=) p.(=) g.43088971C>T Copied from the Exome Variant Server A4GALT_000007 5257/13006 3189/8600 2068/4406 - - - - - - -
?/? c.995C>T r.(?) p.(Ala332Val) g.43088963G>A Copied from the Exome Variant Server A4GALT_000006 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1000C>T r.(=) p.(=) g.43088958G>A Copied from the Exome Variant Server A4GALT_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1031C>T r.(?) p.(Thr344Met) g.43088927G>A Copied from the Exome Variant Server A4GALT_000004 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1052T>G r.(?) p.(Met351Arg) g.43088906A>C Copied from the Exome Variant Server A4GALT_000003 2/13004 2/8598 0/4406 - - - - - - -
?/? c.1056C>T r.(=) p.(=) g.43088902G>A Copied from the Exome Variant Server A4GALT_000002 1/13002 1/8596 0/4406 - - - - - - -
?/? c.*52C>T r.(=) p.(=) g.43088844G>A Copied from the Exome Variant Server A4GALT_000001 6/5732 0/3982 6/1750 - - - - - - -
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