All transcript variants in gene SATL1

Information The variants shown are described using the NM_001012980.2 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.17C>A r.(?) p.(Thr6Lys) g.84363958G>T Copied from the Exome Variant Server SATL1_000066 1/3600 0/2391 1/1209
?/? c.160A>G r.(?) p.(Met54Val) g.84363815T>C Copied from the Exome Variant Server SATL1_000065 1/3599 0/2390 1/1209
?/? c.259C>G r.(?) p.(Pro87Ala) g.84363716G>C Copied from the Exome Variant Server SATL1_000064 17/3600 17/2391 0/1209
?/? c.348A>G r.(=) p.(=) g.84363627T>C Copied from the Exome Variant Server SATL1_000063 1/3600 1/2391 0/1209
?/? c.368G>A r.(?) p.(Arg123His) g.84363607C>T Copied from the Exome Variant Server SATL1_000062 32/3600 0/2391 32/1209
?/? c.386C>T r.(?) p.(Thr129Met) g.84363589G>A Copied from the Exome Variant Server SATL1_000061 2/3600 0/2391 2/1209
?/? c.416T>C r.(?) p.(Met139Thr) g.84363559A>G Copied from the Exome Variant Server SATL1_000060 1/3600 1/2391 0/1209
?/? c.518C>T r.(?) p.(Thr173Ile) g.84363457G>A Copied from the Exome Variant Server SATL1_000059 203/10563 2/6728 201/3835
?/? c.561C>T r.(=) p.(=) g.84363414G>A Copied from the Exome Variant Server SATL1_000058 1/10563 0/6728 1/3835
?/? c.592G>A r.(?) p.(Val198Met) g.84363383C>T Copied from the Exome Variant Server SATL1_000057 1/10563 1/6728 0/3835
?/? c.595C>T r.(?) p.(Gln199*) g.84363380G>A Copied from the Exome Variant Server SATL1_000056 6/10563 0/6728 6/3835
?/? c.592_606del r.(?) p.(Val198_Gly202del) g.84363369_84363383del Copied from the Exome Variant Server SATL1_000055 13/10199 11/6482 2/3717
?/? c.612C>A r.(?) p.(Ser204Arg) g.84363363G>T Copied from the Exome Variant Server SATL1_000054 1/10563 1/6728 0/3835
?/? c.626G>A r.(?) p.(Ser209Asn) g.84363349C>T Copied from the Exome Variant Server SATL1_000052 1/10563 0/6728 1/3835
?/? c.709T>C r.(?) p.(Cys237Arg) g.84363266A>G Copied from the Exome Variant Server SATL1_000051 2/10563 2/6728 0/3835
?/? c.741C>T r.(=) p.(=) g.84363234G>A Copied from the Exome Variant Server SATL1_000048 7/10563 0/6728 7/3835
?/? c.811A>G r.(?) p.(Met271Val) g.84363164T>C Copied from the Exome Variant Server SATL1_000046 550/10563 16/6728 534/3835
?/? c.835T>C r.(?) p.(Trp279Arg) g.84363140A>G Copied from the Exome Variant Server SATL1_000067 7563/10563 4591/6728 2972/3835
?/? c.877C>T r.(?) p.(Gln293*) g.84363098G>A Copied from the Exome Variant Server SATL1_000068 1/10559 1/6724 0/3835
?/? c.929A>T r.(?) p.(Asp310Val) g.84363046T>A Copied from the Exome Variant Server SATL1_000053 1/10563 1/6728 0/3835
?/? c.942T>C r.(=) p.(=) g.84363033A>G Copied from the Exome Variant Server SATL1_000050 38/10563 0/6728 38/3835
?/? c.944G>A r.(?) p.(Gly315Asp) g.84363031C>T Copied from the Exome Variant Server SATL1_000049 43/10558 0/6728 43/3830
?/? c.959G>A r.(?) p.(Gly320Asp) g.84363016C>T Copied from the Exome Variant Server SATL1_000047 129/10563 0/6728 129/3835
?/? c.1052C>T r.(?) p.(Pro351Leu) g.84362923G>A Copied from the Exome Variant Server SATL1_000045 7/10563 0/6728 7/3835
?/? c.1060C>G r.(?) p.(Arg354Gly) g.84362915G>C Copied from the Exome Variant Server SATL1_000044 1/10563 1/6728 0/3835
?/? c.1063G>T r.(?) p.(Ala355Ser) g.84362912C>A Copied from the Exome Variant Server SATL1_000043 1/10563 0/6728 1/3835
?/? c.1211C>T r.(?) p.(Ser404Leu) g.84362764G>A Copied from the Exome Variant Server SATL1_000042 1/10563 0/6728 1/3835
?/? c.1244G>A r.(?) p.(Gly415Asp) g.84362731C>T Copied from the Exome Variant Server SATL1_000041 34/10563 0/6728 34/3835
?/? c.1278G>A r.(=) p.(=) g.84362697C>T Copied from the Exome Variant Server SATL1_000040 1/10563 0/6728 1/3835
?/? c.1316G>A r.(?) p.(Arg439Gln) g.84362659C>T Copied from the Exome Variant Server SATL1_000039 6/10563 0/6728 6/3835
?/? c.1325G>A r.(?) p.(Trp442*) g.84362650C>T Copied from the Exome Variant Server SATL1_000038 76/10563 1/6728 75/3835
?/? c.1345C>G r.(?) p.(Gln449Glu) g.84362630G>C Copied from the Exome Variant Server SATL1_000037 2/10563 2/6728 0/3835
?/? c.1368G>C r.(?) p.(Met456Ile) g.84362607C>G Copied from the Exome Variant Server SATL1_000036 1/10563 0/6728 1/3835
?/? c.1408G>A r.(?) p.(Gly470Ser) g.84362567C>T Copied from the Exome Variant Server SATL1_000035 2/10563 2/6728 0/3835
?/? c.1414A>T r.(?) p.(Ser472Cys) g.84362561T>A Copied from the Exome Variant Server SATL1_000034 26/10563 0/6728 26/3835
?/? c.1428G>A r.(=) p.(=) g.84362547C>T Copied from the Exome Variant Server SATL1_000033 56/10563 0/6728 56/3835
?/? c.1444T>C r.(?) p.(Trp482Arg) g.84362531A>G Copied from the Exome Variant Server SATL1_000032 3/10563 0/6728 3/3835
?/? c.1451C>T r.(?) p.(Pro484Leu) g.84362524G>A Copied from the Exome Variant Server SATL1_000031 1/10563 0/6728 1/3835
?/? c.1482A>G r.(=) p.(=) g.84362493T>C Copied from the Exome Variant Server SATL1_000030 1/10563 1/6728 0/3835
?/? c.1537del r.(?) p.(Gln513Asnfs*4) g.84362438del Copied from the Exome Variant Server SATL1_000029 1/10205 1/6484 0/3721
?/? c.1574G>A r.(?) p.(Ser525Asn) g.84362401C>T Copied from the Exome Variant Server SATL1_000028 3/10563 3/6728 0/3835
?/? c.1599T>C r.(=) p.(=) g.84362376A>G Copied from the Exome Variant Server SATL1_000027 2/10563 2/6728 0/3835
?/? c.1605G>A r.(=) p.(=) g.84362370C>T Copied from the Exome Variant Server SATL1_000026 1/10563 1/6728 0/3835
?/? c.1641+2T>C r.spl? p.? g.84362332A>G Copied from the Exome Variant Server SATL1_000025 1/10563 0/6728 1/3835
?/? c.1641+25G>T r.(=) p.(=) g.84362309C>A Copied from the Exome Variant Server SATL1_000024 1/10561 1/6726 0/3835
?/? c.1641+36T>C r.(=) p.(=) g.84362298A>G Copied from the Exome Variant Server SATL1_000023 183/10555 169/6721 14/3834
?/? c.1642-31C>T r.(=) p.(=) g.84358952G>A Copied from the Exome Variant Server SATL1_000022 1/10559 1/6725 0/3834
?/? c.1664T>C r.(?) p.(Met555Thr) g.84358899A>G Copied from the Exome Variant Server SATL1_000021 1/10563 1/6728 0/3835
?/? c.1666C>T r.(=) p.(=) g.84358897G>A Copied from the Exome Variant Server SATL1_000020 1/10563 1/6728 0/3835
?/? c.1677G>A r.(?) p.(Met559Ile) g.84358886C>T Copied from the Exome Variant Server SATL1_000019 6/10563 0/6728 6/3835
?/? c.1693+5G>T r.spl? p.? g.84358865C>A Copied from the Exome Variant Server SATL1_000018 6/10563 6/6728 0/3835
?/? c.1693+6G>A r.(=) p.(=) g.84358864C>T Copied from the Exome Variant Server SATL1_000017 7914/10563 4586/6728 3328/3835
?/? c.1693+49A>G r.(=) p.(=) g.84358821T>C Copied from the Exome Variant Server SATL1_000016 1/10560 0/6728 1/3832
?/? c.1693+75T>C r.(=) p.(=) g.84358795A>G Copied from the Exome Variant Server SATL1_000015 1/3600 0/2391 1/1209
?/? c.1694-12T>C r.(=) p.(=) g.84350014A>G Copied from the Exome Variant Server SATL1_000014 6/10558 0/6724 6/3834
?/? c.1694-8T>C r.(=) p.(=) g.84350010A>G Copied from the Exome Variant Server SATL1_000013 6540/10561 4573/6726 1967/3835
?/? c.1755C>T r.(=) p.(=) g.84349941G>A Copied from the Exome Variant Server SATL1_000012 179/10563 171/6728 8/3835
?/? c.1774+60T>C r.(=) p.(=) g.84349862A>G Copied from the Exome Variant Server SATL1_000011 8/3600 0/2391 8/1209
?/? c.1775-11T>A r.(=) p.(=) g.84349246A>T Copied from the Exome Variant Server SATL1_000010 2/10563 0/6728 2/3835
?/? c.1803C>G r.(?) p.(Tyr601*) g.84349207G>C Copied from the Exome Variant Server SATL1_000009 2/10563 2/6728 0/3835
?/? c.1856A>T r.(?) p.(Tyr619Phe) g.84349154T>A Copied from the Exome Variant Server SATL1_000008 1/10563 0/6728 1/3835
?/? c.1876+20T>C r.(=) p.(=) g.84349114A>G Copied from the Exome Variant Server SATL1_000007 7/10563 0/6728 7/3835
?/? c.1877-572_1877-569del r.(=) p.(=) g.84348136_84348139del Copied from the Exome Variant Server SATL1_000006 214/4326 12/2821 202/1505
?/? c.1877-62_1877-61del r.(=) p.(=) g.84347628_84347629del Copied from the Exome Variant Server SATL1_000005 1/10184 0/6470 1/3714
?/? c.*13T>C r.(=) p.(=) g.84347532A>G Copied from the Exome Variant Server SATL1_000004 1/10563 0/6728 1/3835
?/? c.*16T>C r.(=) p.(=) g.84347529A>G Copied from the Exome Variant Server SATL1_000003 1/10563 1/6728 0/3835
?/? c.*20G>A r.(=) p.(=) g.84347525C>T Copied from the Exome Variant Server SATL1_000002 3/10563 3/6728 0/3835
?/? c.*70_*71insA r.(=) p.(=) g.84347474_84347475insT Copied from the Exome Variant Server SATL1_000001 1/10205 0/6484 1/3721
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