Unique variants in gene SCYL1

Information The variants shown are described using the NM_020680.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.-25C>G r.(=) p.(=) g.65292600C>G - SCYL1_000001 rs371507840 0.001938 1 516 3891 - - Admin
./. 1 - c.111+30G>A r.(=) p.(=) g.65292765G>A - SCYL1_000002 rs985179863 0.001938 1 516 2662 1 - Admin
./. 1 - c.150G>C r.(=) p.(=) g.65293083G>C - SCYL1_000003 rs368523734 0.001938 1 516 7233 - - Admin
./. 1 - c.324G>A r.(=) p.(=) g.65293463G>A - SCYL1_000004 rs55662663 0.016 8 516 9826 - - Admin
./. 1 - c.373G>A r.(?) p.(Val125Met) g.65293512G>A - SCYL1_000005 rs78243061 0.003876 2 516 10199 - - Admin
./. 1 - c.406A>G r.(?) p.(Ser136Gly) g.65293625A>G - SCYL1_000006 rs367777193 0.001938 1 516 9577 - - Admin
./. 1 - c.600G>A r.(=) p.(=) g.65293819G>A - SCYL1_000007 rs75169347 0.058 30 516 9748 - - Admin
./. 1 - c.603-41G>A r.(=) p.(=) g.65294213G>A - SCYL1_000008 rs369074734 0.001938 1 516 3697 - - Admin
./. 1 - c.603-31G>A r.(=) p.(=) g.65294223G>A - SCYL1_000009 rs1622368 0.016 8 516 3976 - - Admin
./. 1 - c.695T>C r.(?) p.(Ile232Thr) g.65294434T>C - SCYL1_000010 rs201043872 0.003876 2 516 6338 - - Admin
./. 1 - c.849+10C>A r.(=) p.(=) g.65294598C>A - SCYL1_000011 rs57664614 0.00969 5 516 8730 - - Admin
./. 1 - c.850-121G>A r.(=) p.(=) g.65297979G>A - SCYL1_000012 - 0.002041 1 490 1614 1 - Admin
./. 1 - c.850-17C>T r.(=) p.(=) g.65298083C>T - SCYL1_000013 rs148220530 0.003876 2 516 5241 - - Admin
./. 1 - c.877T>G r.(?) p.(Phe293Val) g.65298127T>G - SCYL1_000014 rs143168314 0.001938 1 516 7579 - - Admin
./. 1 - c.1008+36G>C r.(=) p.(=) g.65298294G>C - SCYL1_000016 rs1221614833 0.001969 1 508 1918 1 - Admin
./. 1 - c.1009-114C>G r.(=) p.(=) g.65298933C>G - SCYL1_000015 rs3814753 0.001938 1 516 3169 - - Admin
./. 1 - c.1009-111del r.(=) p.(=) g.65298936del - SCYL1_000017 rs545215133 0.001938 1 516 3169 - - Admin
./. 1 - c.1009-108G>A r.(=) p.(=) g.65298939G>A - SCYL1_000018 rs11600543 0.076 39 516 3287 - - Admin
./. 1 - c.1009-57C>T r.(=) p.(=) g.65298990C>T - SCYL1_000019 rs150704099 0.003876 2 516 4743 - - Admin
./. 1 - c.1103G>A r.(?) p.(Arg368His) g.65299141G>A - SCYL1_000020 rs187644314 0.001938 1 516 4035 - - Admin
./. 1 - c.1231-112C>T r.(=) p.(=) g.65302586C>T - SCYL1_000021 rs571060228 0.005814 3 516 2782 - - Admin
./. 1 - c.1386+40G>A r.(=) p.(=) g.65302893G>A - SCYL1_000022 rs947791 0.167 86 516 3593 - - Admin
./. 1 - c.1592G>A r.(?) p.(Arg531Gln) g.65303746G>A - SCYL1_000023 rs553035759 0.001938 1 516 9542 - - Admin
./. 1 - c.1719C>T r.(=) p.(=) g.65304124C>T - SCYL1_000024 rs56296579 0.001938 1 516 8580 - - Admin
./. 1 - c.1816+9C>T r.(=) p.(=) g.65304230C>T - SCYL1_000025 rs144276277 0.003876 2 516 9416 - - Admin
./. 1 - c.1816+72G>A r.(=) p.(=) g.65304293G>A - SCYL1_000026 rs529349035 0.00969 5 516 7688 - - Admin
./. 1 - c.1816+84_1816+85insG r.(=) p.(=) g.65304305_65304306insG - SCYL1_000027 rs533836970 - - - - - - Admin
./. 1 - c.1817-82C>T r.(=) p.(=) g.65304375C>T - SCYL1_000028 rs114103687 0.001946 1 514 2897 - - Admin
./. 1 - c.1959+105C>G r.(=) p.(=) g.65304704C>G - SCYL1_000029 rs562013183 0.001938 1 516 2849 1 - Admin
./. 1 - c.1959+125G>A r.(=) p.(=) g.65304724G>A - SCYL1_000030 rs942848522 0.001946 1 514 2166 1 - Admin
./. 1 - c.1989G>T r.(?) p.(Gln663His) g.65305309G>T - SCYL1_000031 rs56076708 0.003876 2 516 5933 - - Admin
./. 1 - c.2005G>A r.(?) p.(Gly669Arg) g.65305325G>A - SCYL1_000032 rs371045520 0.001938 1 516 7181 - - Admin
./. 1 - c.2044G>A r.(?) p.(Asp682Asn) g.65305450G>A - SCYL1_000033 rs199946104 0.001938 1 516 9541 - - Admin
./. 1 - c.2290G>A r.(?) p.(Glu764Lys) g.65305783G>A - SCYL1_000034 rs1297684278 0.001938 1 516 9431 1 - Admin
./. 1 - c.2303-45C>T r.(=) p.(=) g.65305868C>T - SCYL1_000035 rs1784221 0.023 12 516 8418 - - Admin
./. 1 - c.*27C>T r.(=) p.(=) g.65306064C>T - SCYL1_000036 rs751197433 0.001938 1 516 7864 - - Admin
./. 1 - c.*140C>T r.(=) p.(=) g.65306177C>T - SCYL1_000037 rs541755996 0.003876 2 516 2137 - - Admin
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