Unique variants in gene SYNDIG1L

Information The variants shown are described using the NM_001105579.1 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-7del r.(=) p.(=) g.74876454del Copied from the Exome Variant Server SYNDIG1L_000035 3/11616 2/7890 1/3726
1 c.42G>A r.(=) p.(=) g.74876406C>T Copied from the Exome Variant Server SYNDIG1L_000034 3/12252 0/8312 3/3940
1 c.77C>T r.(?) p.(Pro26Leu) g.74876371G>A Copied from the Exome Variant Server SYNDIG1L_000033 1/12152 1/8276 0/3876
1 c.85C>T r.(?) p.(Pro29Ser) g.74876363G>A Copied from the Exome Variant Server SYNDIG1L_000032 20/12156 0/8278 20/3878
1 c.93C>G r.(?) p.(Ser31Arg) g.74876355G>C Copied from the Exome Variant Server SYNDIG1L_000031 1316/12152 919/8274 397/3878
1 c.148G>A r.(?) p.(Gly50Arg) g.74876300C>T Copied from the Exome Variant Server SYNDIG1L_000030 96/12078 3/8244 93/3834
1 c.153C>T r.(=) p.(=) g.74876295G>A Copied from the Exome Variant Server SYNDIG1L_000029 1/12074 1/8246 0/3828
1 c.190G>A r.(?) p.(Val64Met) g.74876258C>T Copied from the Exome Variant Server SYNDIG1L_000028 2/11954 2/8184 0/3770
1 c.205C>T r.(?) p.(Arg69Trp) g.74876243G>A Copied from the Exome Variant Server SYNDIG1L_000027 1/11954 1/8194 0/3760
1 c.234G>A r.(=) p.(=) g.74876214C>T Copied from the Exome Variant Server SYNDIG1L_000026 1/11990 0/8220 1/3770
1 c.255C>A r.(=) p.(=) g.74876193G>T Copied from the Exome Variant Server SYNDIG1L_000025 3/12074 0/8246 3/3828
1 c.267A>C r.(=) p.(=) g.74876181T>G Copied from the Exome Variant Server SYNDIG1L_000024 5886/12094 4113/8258 1773/3836
1 c.295G>A r.(?) p.(Glu99Lys) g.74876153C>T Copied from the Exome Variant Server SYNDIG1L_000023 1/12156 1/8278 0/3878
1 c.313C>T r.(?) p.(Pro105Ser) g.74876135G>A Copied from the Exome Variant Server SYNDIG1L_000022 1/12318 0/8336 1/3982
1 c.418-15T>C r.(=) p.(=) g.74874707A>G Copied from the Exome Variant Server SYNDIG1L_000021 6339/13002 4310/8598 2029/4404
1 c.420C>T r.(=) p.(=) g.74874690G>A Copied from the Exome Variant Server SYNDIG1L_000020 10/13006 9/8600 1/4406
1 c.435G>A r.(=) p.(=) g.74874675C>T Copied from the Exome Variant Server SYNDIG1L_000019 2/13006 1/8600 1/4406
1 c.464C>T r.(?) p.(Thr155Met) g.74874646G>A Copied from the Exome Variant Server SYNDIG1L_000018 15/13006 0/8600 15/4406
1 c.487G>A r.(?) p.(Gly163Arg) g.74874623C>T Copied from the Exome Variant Server SYNDIG1L_000017 8/13006 6/8600 2/4406
1 c.515G>C r.(?) p.(Cys172Ser) g.74874595C>G Copied from the Exome Variant Server SYNDIG1L_000016 1/13006 1/8600 0/4406
1 c.529G>A r.(?) p.(Gly177Ser) g.74874581C>T Copied from the Exome Variant Server SYNDIG1L_000015 1/13006 1/8600 0/4406
1 c.558+8C>T r.(=) p.(=) g.74874544G>A Copied from the Exome Variant Server SYNDIG1L_000014 2/13004 0/8600 2/4404
1 c.558+11_558+12del r.(=) p.(=) g.74874540_74874541del Copied from the Exome Variant Server SYNDIG1L_000013 20/12512 17/8250 3/4262
1 c.558+12T>C r.(=) p.(=) g.74874540A>G Copied from the Exome Variant Server SYNDIG1L_000012 5365/13000 3953/8598 1412/4402
1 c.558+15G>A r.(=) p.(=) g.74874537C>T Copied from the Exome Variant Server SYNDIG1L_000011 1/12996 1/8596 0/4400
1 c.558+38G>A r.(=) p.(=) g.74874514C>T Copied from the Exome Variant Server SYNDIG1L_000010 4/12976 1/8584 3/4392
1 c.567G>A r.(=) p.(=) g.74874388C>T Copied from the Exome Variant Server SYNDIG1L_000009 1/12840 0/8512 1/4328
1 c.573C>T r.(=) p.(=) g.74874382G>A Copied from the Exome Variant Server SYNDIG1L_000008 1/12830 0/8512 1/4318
1 c.613C>T r.(?) p.(Arg205Trp) g.74874342G>A Copied from the Exome Variant Server SYNDIG1L_000007 1/12636 1/8452 0/4184
1 c.614G>A r.(?) p.(Arg205Gln) g.74874341C>T Copied from the Exome Variant Server SYNDIG1L_000006 1/12656 1/8466 0/4190
1 c.632C>G r.(?) p.(Thr211Arg) g.74874323G>C Copied from the Exome Variant Server SYNDIG1L_000005 1/12676 1/8466 0/4210
1 c.645C>T r.(=) p.(=) g.74874310G>A Copied from the Exome Variant Server SYNDIG1L_000004 1/12704 1/8470 0/4234
1 c.664G>A r.(?) p.(Val222Met) g.74874291C>T Copied from the Exome Variant Server SYNDIG1L_000003 1/12806 1/8524 0/4282
1 c.706G>A r.(?) p.(Gly236Ser) g.74874249C>T Copied from the Exome Variant Server SYNDIG1L_000002 2/12778 2/8498 0/4280
1 c.*10G>C r.(=) p.(=) g.74874228C>G Copied from the Exome Variant Server SYNDIG1L_000001 1/12742 0/8470 1/4272
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