Unique variants in gene SDHC

Information The variants shown are described using the NM_003001.3 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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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.-3A>G r.(=) p.(=) g.161284193A>G Copied from the Exome Variant Server SDHC_000001 2/13006 2/8600 0/4406
1 c.8C>T r.(?) p.(Ala3Val) g.161284203C>T Copied from the Exome Variant Server SDHC_000002 1/13006 0/8600 1/4406
1 c.20+3G>A r.spl? p.? g.161284218G>A Copied from the Exome Variant Server SDHC_000003 1/13006 0/8600 1/4406
1 c.20+9_20+10insGT r.(=) p.(=) g.161284224_161284225insGT Copied from the Exome Variant Server SDHC_000004 1405/12520 516/8254 889/4266
1 c.20+22G>C r.(=) p.(=) g.161284237G>C Copied from the Exome Variant Server SDHC_000005 8/13006 7/8600 1/4406
1 c.20+82T>C r.(=) p.(=) g.161284297T>C Copied from the Exome Variant Server SDHC_000006 324/4566 194/3182 130/1384
1 c.77+25_77+29del r.(=) p.(=) g.161293485_161293489del Copied from the Exome Variant Server SDHC_000007 467/12516 140/8254 327/4262
1 c.77+26_77+27dup r.(=) p.(=) g.161293486_161293487dup Copied from the Exome Variant Server SDHC_000008 422/12516 159/8254 263/4262
1 c.77+26_77+27insA r.(=) p.(=) g.161293486_161293487insA Copied from the Exome Variant Server SDHC_000010 183/12518 72/8254 111/4264
1 c.77+26_77+27insAT r.(=) p.(=) g.161293486_161293487insAT Copied from the Exome Variant Server SDHC_000009 1145/12516 461/8254 684/4262
1 c.77+26_77+30del r.(=) p.(=) g.161293486_161293490del Copied from the Exome Variant Server SDHC_000011 213/12516 35/8254 178/4262
1 c.77+27del r.(=) p.(=) g.161293487del Copied from the Exome Variant Server SDHC_000012 455/12516 186/8254 269/4262
1 c.77+27_77+31del r.(=) p.(=) g.161293487_161293491del Copied from the Exome Variant Server SDHC_000013 648/12518 224/8254 424/4264
1 c.77+28_77+29del r.(=) p.(=) g.161293488_161293489del Copied from the Exome Variant Server SDHC_000014 478/12518 173/8254 305/4264
1 c.77+32del r.(=) p.(=) g.161293492del Copied from the Exome Variant Server SDHC_000015 1285/12504 446/8250 839/4254
1 c.77+36T>A r.(=) p.(=) g.161293496T>A Copied from the Exome Variant Server SDHC_000016 447/12988 179/8600 268/4388
1 c.77+48C>T r.(=) p.(=) g.161293508C>T Copied from the Exome Variant Server SDHC_000017 784/12972 456/8588 328/4384
1 c.78-23C>G r.(=) p.(=) g.161298163C>G Copied from the Exome Variant Server SDHC_000018 95/13006 1/8600 94/4406
1 c.78-19C>T r.(=) p.(=) g.161298167C>T Copied from the Exome Variant Server SDHC_000019 2/13006 1/8600 1/4406
1 c.98C>T r.(?) p.(Thr33Met) g.161298206C>T Copied from the Exome Variant Server SDHC_000021 1/13006 1/8600 0/4406
1 c.99G>T r.(=) p.(=) g.161298207G>T Copied from the Exome Variant Server SDHC_000023 2/13006 2/8600 0/4406
1 c.120G>A r.(=) p.(=) g.161298228G>A Copied from the Exome Variant Server SDHC_000025 6/13006 4/8600 2/4406
1 c.180-35C>T r.(=) p.(=) g.161310349C>T Copied from the Exome Variant Server SDHC_000027 3/13006 0/8600 3/4406
1 c.180-11T>G r.(=) p.(=) g.161310373T>G Copied from the Exome Variant Server SDHC_000029 2/13006 2/8600 0/4406
1 c.238G>A r.(?) p.(Ala80Thr) g.161310442G>A Copied from the Exome Variant Server SDHC_000031 1/13006 0/8600 1/4406
1 c.241+23A>G r.(=) p.(=) g.161310468A>G Copied from the Exome Variant Server SDHC_000033 3/13006 0/8600 3/4406
1 c.241+30T>C r.(=) p.(=) g.161310475T>C Copied from the Exome Variant Server SDHC_000035 2/13006 2/8600 0/4406
1 c.292T>G r.(?) p.(Ser98Ala) g.161326517T>G Copied from the Exome Variant Server SDHC_000037 1/13006 1/8600 0/4406
1 c.294T>G r.(=) p.(=) g.161326519T>G Copied from the Exome Variant Server SDHC_000039 1/13006 1/8600 0/4406
1 c.342C>T r.(=) p.(=) g.161326567C>T Copied from the Exome Variant Server SDHC_000020 8/13006 0/8600 8/4406
1 c.354T>C r.(=) p.(=) g.161326579T>C Copied from the Exome Variant Server SDHC_000022 73/13006 1/8600 72/4406
1 c.405+13G>A r.(=) p.(=) g.161326643G>A Copied from the Exome Variant Server SDHC_000024 1/13006 1/8600 0/4406
1 c.405+23C>T r.(=) p.(=) g.161326653C>T Copied from the Exome Variant Server SDHC_000026 2/13006 2/8600 0/4406
1 c.405+44G>C r.(=) p.(=) g.161326674G>C Copied from the Exome Variant Server SDHC_000028 2/13006 2/8600 0/4406
1 c.405+47G>A r.(=) p.(=) g.161326677G>A Copied from the Exome Variant Server SDHC_000030 1/13006 0/8600 1/4406
1 c.406-49A>G r.(=) p.(=) g.161332070A>G Copied from the Exome Variant Server SDHC_000032 113/13006 2/8600 111/4406
1 c.406-42A>G r.(=) p.(=) g.161332077A>G Copied from the Exome Variant Server SDHC_000034 1/13006 0/8600 1/4406
1 c.406-3C>A r.spl? p.? g.161332116C>A Copied from the Exome Variant Server SDHC_000036 1/13006 0/8600 1/4406
1 c.444A>C r.(=) p.(=) g.161332157A>C Copied from the Exome Variant Server SDHC_000038 2/13006 0/8600 2/4406
1 c.*45C>A r.(=) p.(=) g.161332268C>A Copied from the Exome Variant Server SDHC_000040 1/12962 1/8558 0/4404
1 c.*78G>A r.(=) p.(=) g.161332301G>A Copied from the Exome Variant Server SDHC_000041 22/12854 20/8522 2/4332
1 c.*84G>C r.(=) p.(=) g.161332307G>C Copied from the Exome Variant Server SDHC_000042 77/12756 69/8486 8/4270
1 c.*123C>G r.(=) p.(=) g.161332346C>G Copied from the Exome Variant Server SDHC_000043 886/12764 511/8520 375/4244
1 c.*143G>C r.(=) p.(=) g.161332366G>C Copied from the Exome Variant Server SDHC_000044 1/12766 1/8520 0/4246
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