All transcript variants in gene SAT1

Information The variants shown are described using the NM_002970.2 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.34G>A r.(?) p.(Ala12Thr) g.23801502G>A Copied from the Exome Variant Server SAT1_000001 5/10563 5/6728 0/3835
?/? c.35C>A r.(?) p.(Ala12Asp) g.23801503C>A Copied from the Exome Variant Server SAT1_000002 5/10563 5/6728 0/3835
?/? c.51A>C r.(=) p.(=) g.23801519A>C Copied from the Exome Variant Server SAT1_000003 1/10563 1/6728 0/3835
?/? c.66+13C>T r.(=) p.(=) g.23801547C>T Copied from the Exome Variant Server SAT1_000004 1/10563 1/6728 0/3835
?/? c.66+25C>T r.(=) p.(=) g.23801559C>T Copied from the Exome Variant Server SAT1_000005 1/10563 1/6728 0/3835
?/? c.66+59A>G r.(=) p.(=) g.23801593A>G Copied from the Exome Variant Server SAT1_000006 2672/3600 1879/2391 793/1209
?/? c.67-73G>C r.(=) p.(=) g.23801702G>C Copied from the Exome Variant Server SAT1_000007 2445/3595 1872/2388 573/1207
?/? c.67-38G>A r.(=) p.(=) g.23801737G>A Copied from the Exome Variant Server SAT1_000008 5/10562 0/6728 5/3834
?/? c.67-8del r.(=) p.(=) g.23801767del Copied from the Exome Variant Server SAT1_000009 2/10204 1/6484 1/3720
?/? c.67-4C>T r.spl? p.? g.23801771C>T Copied from the Exome Variant Server SAT1_000010 1/10563 1/6728 0/3835
?/? c.103A>G r.(?) p.(Ile35Val) g.23801811A>G Copied from the Exome Variant Server SAT1_000011 2/10563 0/6728 2/3835
?/? c.118+8A>G r.(=) p.(=) g.23801834A>G Copied from the Exome Variant Server SAT1_000012 1/10563 1/6728 0/3835
?/? c.118+33G>C r.(=) p.(=) g.23801859G>C Copied from the Exome Variant Server SAT1_000013 2/10563 2/6728 0/3835
?/? c.119-20C>T r.(=) p.(=) g.23801897C>T Copied from the Exome Variant Server SAT1_000014 1/10563 0/6728 1/3835
?/? c.120T>C r.(=) p.(=) g.23801918T>C Copied from the Exome Variant Server SAT1_000015 1/10563 1/6728 0/3835
?/? c.147C>T r.(=) p.(=) g.23801945C>T Copied from the Exome Variant Server SAT1_000016 2/10563 0/6728 2/3835
?/? c.202+7C>T r.(=) p.(=) g.23802007C>T Copied from the Exome Variant Server SAT1_000017 7/10563 6/6728 1/3835
?/? c.202+34C>T r.(=) p.(=) g.23802034C>T Copied from the Exome Variant Server SAT1_000019 1/10563 1/6728 0/3835
?/? c.203-14T>C r.(=) p.(=) g.23803431T>C Copied from the Exome Variant Server SAT1_000021 6/10563 6/6728 0/3835
?/? c.249G>A r.(=) p.(=) g.23803491G>A Copied from the Exome Variant Server SAT1_000023 1/10563 0/6728 1/3835
?/? c.295G>C r.(?) p.(Asp99His) g.23803537G>C Copied from the Exome Variant Server SAT1_000025 1/10563 1/6728 0/3835
?/? c.304+14C>T r.(=) p.(=) g.23803560C>T Copied from the Exome Variant Server SAT1_000027 57/10563 0/6728 57/3835
?/? c.304+27C>T r.(=) p.(=) g.23803573C>T Copied from the Exome Variant Server SAT1_000029 1/10563 0/6728 1/3835
?/? c.304+34G>C r.(=) p.(=) g.23803580G>C Copied from the Exome Variant Server SAT1_000031 4/10563 4/6728 0/3835
?/? c.304+44T>C r.(=) p.(=) g.23803590T>C Copied from the Exome Variant Server SAT1_000018 1/10563 1/6728 0/3835
?/? c.305-44T>C r.(=) p.(=) g.23803593T>C Copied from the Exome Variant Server SAT1_000020 107/10563 1/6728 106/3835
?/? c.305-39G>A r.(=) p.(=) g.23803598G>A Copied from the Exome Variant Server SAT1_000022 1/10563 1/6728 0/3835
?/? c.345+50T>C r.(=) p.(=) g.23803727T>C Copied from the Exome Variant Server SAT1_000024 3/10563 0/6728 3/3835
?/? c.345+54G>A r.(=) p.(=) g.23803731G>A Copied from the Exome Variant Server SAT1_000026 9/3600 0/2391 9/1209
?/? c.346-30_346-29insT r.(=) p.(=) g.23803773_23803774insT Copied from the Exome Variant Server SAT1_000028 1/10203 0/6482 1/3721
?/? c.346-17T>C r.(=) p.(=) g.23803786T>C Copied from the Exome Variant Server SAT1_000030 2/10563 0/6728 2/3835
?/? c.363C>G r.(=) p.(=) g.23803820C>G Copied from the Exome Variant Server SAT1_000032 3/10563 3/6728 0/3835
?/? c.392A>G r.(?) p.(Glu131Gly) g.23803849A>G Copied from the Exome Variant Server SAT1_000033 2/10563 0/6728 2/3835
?/? c.*10_*11insT r.(=) p.(=) g.23803983_23803984insT Copied from the Exome Variant Server SAT1_000034 1/10203 1/6482 0/3721
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