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