Unique variants in gene SUFU

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

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 1 - c.6G>T r.(=) p.(=) g.104263915G>T - SUFU_000012 - - - - Despoina Kalfakakou
./. 1 - c.26C>T r.(?) p.(Ala9Val) g.104263935C>T - SUFU_000020 - - - - Despoina Kalfakakou
./. 1 - c.37A>C r.(?) p.(Thr13Pro) g.104263946A>C - SUFU_000018 - - - - Despoina Kalfakakou
./. 1 - c.40_63del r.(?) p.(Pro18_Ala25del) g.104263949_104263972del - SUFU_000016 - - - - Despoina Kalfakakou
./. 1 - c.182+50A>G r.(=) p.(=) g.104264141A>G - SUFU_000014 - - - - Despoina Kalfakakou
./. 1 - c.183-17T>C r.(=) p.(=) g.104268909T>C - SUFU_000007 - - - - Despoina Kalfakakou
./. 8 - c.318-17C>A r.(=) p.(=) g.104309710C>A - SUFU_000008 - - - - Despoina Kalfakakou
./. 1 - c.437G>A r.(?) p.(Arg146Gln) g.104309846G>A - SUFU_000025 - - - - Despoina Kalfakakou
./. 1 - c.454+21G>T r.(=) p.(=) g.104309884G>T - SUFU_000024 - - - - Despoina Kalfakakou
./. 1 - c.455-46G>T r.(=) p.(=) g.104352293G>T - SUFU_000006 - - - - Despoina Kalfakakou
./. 1 - c.598-47G>C r.(=) p.(=) g.104353346G>C - SUFU_000019 - - - - Despoina Kalfakakou
./. 23 - c.600C>T r.(=) p.(=) g.104353395C>T - SUFU_000004 - - - - Despoina Kalfakakou
./. 1 - c.683+26G>A r.(=) p.(=) g.104353504G>A - SUFU_000030 - - - - Despoina Kalfakakou
./. 1 - c.683+27C>T r.(=) p.(=) g.104353505C>T - SUFU_000005 - - - - Despoina Kalfakakou
./. 1 - c.691G>A r.(?) p.(Gly231Ser) g.104353757G>A - SUFU_000023 - - - - Despoina Kalfakakou
./. 1 - c.744T>G r.(?) p.(Asp248Glu) g.104353810T>G - SUFU_000002 - - - - Despoina Kalfakakou
./. 1 - c.756+37G>A r.(=) p.(=) g.104353859G>A - SUFU_000029 - - - - Despoina Kalfakakou
./. 1 - c.785A>G r.(?) p.(Asp262Gly) g.104356925A>G - SUFU_000022 - - - - Despoina Kalfakakou
./. 2 - c.877A>G r.(?) p.(Ile293Val) g.104357017A>G - SUFU_000021 - - - - Despoina Kalfakakou
./. 1 - c.880G>A r.(?) p.(Gly294Ser) g.104357020G>A - SUFU_000015 - - - - Despoina Kalfakakou
./. 1 - c.896G>A r.(?) p.(Arg299Gln) g.104357036G>A - SUFU_000011 - - - - Despoina Kalfakakou
./. 28 - c.910+14C>T r.(=) p.(=) g.104357064C>T - SUFU_000003 - - - - Despoina Kalfakakou
./. 7 - c.992G>A r.(?) p.(Arg331Gln) g.104359271G>A - SUFU_000013 - - - - Despoina Kalfakakou
./. 38 - c.1018G>T r.(?) p.(Ala340Ser) g.104359297G>T - SUFU_000001 rs34135067 - - - Despoina Kalfakakou
./. 1 - c.1022+23G>A r.(=) p.(=) g.104359324G>A - SUFU_000009 - - - - Despoina Kalfakakou
./. 1 - c.1022+37A>G r.(=) p.(=) g.104359338A>G - SUFU_000027 - - - - Despoina Kalfakakou
./. 1 - c.1023-28C>T r.(=) p.(=) g.104374997C>T - SUFU_000028 - - - - Despoina Kalfakakou
./. 1 - c.1121A>G r.(?) p.(Asn374Ser) g.104375123A>G - SUFU_000010 - - - - Despoina Kalfakakou
./. 1 - c.1157+23A>G r.(=) p.(=) g.104375182A>G - SUFU_000017 - - - - Despoina Kalfakakou
./. 1 - c.1158G>A r.(=) p.(=) g.104377047G>A - SUFU_000026 - - - - Despoina Kalfakakou
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