Full data view for gene SDC2

Information The variants shown are described using the NM_002998.3 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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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.-43C>T r.(=) p.(=) g.97506457C>T Copied from the Exome Variant Server SDC2_000001 1/12194 1/8078 0/4116 - - - - - - -
?/? c.-36C>G r.(=) p.(=) g.97506464C>G Copied from the Exome Variant Server SDC2_000002 1/12242 1/8108 0/4134 - - - - - - -
?/? c.60+18A>G r.(=) p.(=) g.97506577A>G Copied from the Exome Variant Server SDC2_000003 140/12456 0/8272 140/4184 - - - - - - -
?/? c.60+25G>A r.(=) p.(=) g.97506584G>A Copied from the Exome Variant Server SDC2_000004 1/12276 0/8142 1/4134 - - - - - - -
?/? c.60+32G>A r.(=) p.(=) g.97506591G>A Copied from the Exome Variant Server SDC2_000005 1/12168 0/8080 1/4088 - - - - - - -
?/? c.60+44T>C r.(=) p.(=) g.97506603T>C Copied from the Exome Variant Server SDC2_000006 12/12012 0/7966 12/4046 - - - - - - -
?/? c.88A>C r.(?) p.(Met30Leu) g.97605735A>C Copied from the Exome Variant Server SDC2_000007 3/13006 1/8600 2/4406 - - - - - - -
?/? c.89T>A r.(?) p.(Met30Lys) g.97605736T>A Copied from the Exome Variant Server SDC2_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.108C>T r.(=) p.(=) g.97605755C>T Copied from the Exome Variant Server SDC2_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.144C>T r.(=) p.(=) g.97605791C>T Copied from the Exome Variant Server SDC2_000010 2/13006 1/8600 1/4406 - - - - - - -
?/? c.145G>A r.(?) p.(Asp49Asn) g.97605792G>A Copied from the Exome Variant Server SDC2_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.153C>T r.(=) p.(=) g.97605800C>T Copied from the Exome Variant Server SDC2_000012 2256/13006 1894/8600 362/4406 - - - - - - -
?/? c.161C>T r.(?) p.(Ala54Val) g.97605808C>T Copied from the Exome Variant Server SDC2_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.162G>A r.(=) p.(=) g.97605809G>A Copied from the Exome Variant Server SDC2_000014 2/13006 1/8600 1/4406 - - - - - - -
?/? c.172+48C>T r.(=) p.(=) g.97605867C>T Copied from the Exome Variant Server SDC2_000015 369/13006 21/8600 348/4406 - - - - - - -
?/? c.173-12T>G r.(=) p.(=) g.97614611T>G Copied from the Exome Variant Server SDC2_000016 8/13006 8/8600 0/4406 - - - - - - -
?/? c.173-4C>G r.spl? p.? g.97614619C>G Copied from the Exome Variant Server SDC2_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.173-3C>G r.spl? p.? g.97614620C>G Copied from the Exome Variant Server SDC2_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.175G>A r.(?) p.(Ala59Thr) g.97614625G>A Copied from the Exome Variant Server SDC2_000019 685/13006 561/8600 124/4406 - - - - - - -
?/? c.206C>A r.(?) p.(Thr69Lys) g.97614656C>A Copied from the Exome Variant Server SDC2_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.211T>A r.(?) p.(Ser71Thr) g.97614661T>A Copied from the Exome Variant Server SDC2_000021 3242/13006 1568/8600 1674/4406 - - - - - - -
?/? c.233T>G r.(?) p.(Leu78Arg) g.97614683T>G Copied from the Exome Variant Server SDC2_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.237G>A r.(=) p.(=) g.97614687G>A Copied from the Exome Variant Server SDC2_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.266C>T r.(?) p.(Thr89Met) g.97614716C>T Copied from the Exome Variant Server SDC2_000024 2/13006 1/8600 1/4406 - - - - - - -
?/? c.267G>A r.(=) p.(=) g.97614717G>A Copied from the Exome Variant Server SDC2_000025 3/13006 3/8600 0/4406 - - - - - - -
?/? c.270G>A r.(=) p.(=) g.97614720G>A Copied from the Exome Variant Server SDC2_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.274A>T r.(?) p.(Asn92Tyr) g.97614724A>T Copied from the Exome Variant Server SDC2_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.279A>G r.(?) p.(Ile93Met) g.97614729A>G Copied from the Exome Variant Server SDC2_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.282G>C r.(?) p.(Gln94His) g.97614732G>C Copied from the Exome Variant Server SDC2_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.303A>T r.(=) p.(=) g.97614753A>T Copied from the Exome Variant Server SDC2_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.306+4C>T r.spl? p.? g.97614760C>T Copied from the Exome Variant Server SDC2_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.307-23T>C r.(=) p.(=) g.97620540T>C Copied from the Exome Variant Server SDC2_000032 227/13006 201/8600 26/4406 - - - - - - -
?/? c.307-14G>A r.(=) p.(=) g.97620549G>A Copied from the Exome Variant Server SDC2_000033 2/13006 2/8600 0/4406 - - - - - - -
?/? c.307-10C>G r.(=) p.(=) g.97620553C>G Copied from the Exome Variant Server SDC2_000034 23/13006 14/8600 9/4406 - - - - - - -
?/? c.323A>G r.(?) p.(Asp108Gly) g.97620579A>G Copied from the Exome Variant Server SDC2_000035 8/13006 1/8600 7/4406 - - - - - - -
?/? c.373G>A r.(?) p.(Glu125Lys) g.97620629G>A Copied from the Exome Variant Server SDC2_000036 2/13006 2/8600 0/4406 - - - - - - -
?/? c.381T>C r.(=) p.(=) g.97620637T>C Copied from the Exome Variant Server SDC2_000037 2/13006 0/8600 2/4406 - - - - - - -
?/? c.396T>C r.(=) p.(=) g.97620652T>C Copied from the Exome Variant Server SDC2_000039 2/13006 2/8600 0/4406 - - - - - - -
?/? c.442+9C>T r.(=) p.(=) g.97620707C>T Copied from the Exome Variant Server SDC2_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.442+13G>C r.(=) p.(=) g.97620711G>C Copied from the Exome Variant Server SDC2_000043 450/13006 8/8600 442/4406 - - - - - - -
?/? c.442+17G>A r.(=) p.(=) g.97620715G>A Copied from the Exome Variant Server SDC2_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.442+28G>A r.(=) p.(=) g.97620726G>A Copied from the Exome Variant Server SDC2_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.442+32G>A r.(=) p.(=) g.97620730G>A Copied from the Exome Variant Server SDC2_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.442+43G>C r.(=) p.(=) g.97620741G>C Copied from the Exome Variant Server SDC2_000044 1/13004 1/8598 0/4406 - - - - - - -
?/? c.443-11G>C r.(=) p.(=) g.97621602G>C Copied from the Exome Variant Server SDC2_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.449T>C r.(?) p.(Ile150Thr) g.97621619T>C Copied from the Exome Variant Server SDC2_000046 3/13006 3/8600 0/4406 - - - - - - -
?/? c.550C>T r.(?) p.(Arg184Cys) g.97621720C>T Copied from the Exome Variant Server SDC2_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*20_*23del r.(=) p.(=) g.97621796_97621799del Copied from the Exome Variant Server SDC2_000048 1/12514 1/8254 0/4260 - - - - - - -
?/? c.*33A>G r.(=) p.(=) g.97621809A>G Copied from the Exome Variant Server SDC2_000049 65/13004 58/8600 7/4404 - - - - - - -
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