All transcript variants in gene BRIP1

Information The variants shown are described using the NM_032043.2 transcript reference sequence.

191 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. - c.36G>T r.(=) p.(=) g.59938865C>A - BRIP1_000052 rs45566938 - - - Despoina Kalfakakou
./. - c.36G>T r.(=) p.(=) g.59938865C>A - BRIP1_000052 rs45566938 - - - Despoina Kalfakakou
./. - c.93+38T>C r.(=) p.(=) g.59938770A>G - BRIP1_000078 - - - - Despoina Kalfakakou
./. - c.94-4A>T r.spl? p.? g.59937272T>A - BRIP1_000011 - - - - Despoina Kalfakakou
./. - c.94-4A>T r.spl? p.? g.59937272T>A - BRIP1_000011 - - - - Despoina Kalfakakou
./. - c.94-4A>T r.spl? p.? g.59937272T>A - BRIP1_000011 - - - - Despoina Kalfakakou
./. - c.94-4A>T r.spl? p.? g.59937272T>A - BRIP1_000011 - - - - Despoina Kalfakakou
./. - c.94-4A>T r.spl? p.? g.59937272T>A - BRIP1_000011 - - - - Despoina Kalfakakou
./. - c.139C>G r.(?) p.(Pro47Ala) g.59937223G>C - BRIP1_000001 rs28903098 - - - Despoina Kalfakakou
./. - c.139C>G r.(?) p.(Pro47Ala) g.59937223G>C - BRIP1_000001 rs28903098 - - - Despoina Kalfakakou
./. - c.139C>G r.(?) p.(Pro47Ala) g.59937223G>C - BRIP1_000001 rs28903098 - - - Despoina Kalfakakou
./. - c.139C>G r.(?) p.(Pro47Ala) g.59937223G>C - BRIP1_000001 rs28903098 - - - Despoina Kalfakakou
./. - c.139C>G r.(?) p.(Pro47Ala) g.59937223G>C - BRIP1_000001 rs28903098 - - - Despoina Kalfakakou
./. - c.195A>G r.(=) p.(=) g.59937167T>C - BRIP1_000042 - - - - Despoina Kalfakakou
./. - c.206-30T>C r.(=) p.(=) g.59934622A>G - BRIP1_000007 - - - - Despoina Kalfakakou
./. - c.206-21T>C r.(=) p.(=) g.59934613A>G - BRIP1_000006 rs2048717 - - - Despoina Kalfakakou
./. - c.356A>G r.(?) p.(Asn119Ser) g.59934442T>C - BRIP1_000080 - - - - Despoina Kalfakakou
./. - c.379+1G>A r.spl? p.? g.59934418C>T - BRIP1_000061 - - - - Despoina Kalfakakou
./. - c.380-17T>A r.(=) p.(=) g.59926634A>T - BRIP1_000018 - - - - Despoina Kalfakakou
./. - c.380-17T>A r.(=) p.(=) g.59926634A>T - BRIP1_000018 - - - - Despoina Kalfakakou
./. - c.380-17T>A r.(=) p.(=) g.59926634A>T - BRIP1_000018 - - - - Despoina Kalfakakou
./. - c.380-17_380-16insT r.(=) p.(=) g.59926633_59926634insA - BRIP1_000017 - - - - Despoina Kalfakakou
./. - c.380-17_380-16insT r.(=) p.(=) g.59926633_59926634insA - BRIP1_000017 - - - - Despoina Kalfakakou
./. - c.380-17_380-16insT r.(=) p.(=) g.59926633_59926634insA - BRIP1_000017 - - - - Despoina Kalfakakou
./. - c.380-17_380-16insT r.(=) p.(=) g.59926633_59926634insA - BRIP1_000017 - - - - Despoina Kalfakakou
./. - c.380-17_380-16insT r.(=) p.(=) g.59926633_59926634insA - BRIP1_000017 - - - - Despoina Kalfakakou
./. - c.380-17_380-16insT r.(=) p.(=) g.59926633_59926634insA - BRIP1_000017 - - - - Despoina Kalfakakou
./. - c.431C>A r.(?) p.(Ala144Glu) g.59926566G>T - BRIP1_000016 - - - - Despoina Kalfakakou
./. - c.517C>T r.(?) p.(Arg173Cys) g.59924572G>A - BRIP1_000005 rs4988345 - - - Despoina Kalfakakou
./. - c.517C>T r.(?) p.(Arg173Cys) g.59924572G>A - BRIP1_000005 rs4988345 - - - Despoina Kalfakakou
./. - c.517C>T r.(?) p.(Arg173Cys) g.59924572G>A - BRIP1_000005 rs4988345 - - - Despoina Kalfakakou
./. - c.517C>T r.(?) p.(Arg173Cys) g.59924572G>A - BRIP1_000005 rs4988345 - - - Despoina Kalfakakou
./. - c.517C>T r.(?) p.(Arg173Cys) g.59924572G>A - BRIP1_000005 rs4988345 - - - Despoina Kalfakakou
./. - c.517C>T r.(?) p.(Arg173Cys) g.59924572G>A - BRIP1_000005 rs4988345 - - - Despoina Kalfakakou
./. - c.517C>T r.(?) p.(Arg173Cys) g.59924572G>A - BRIP1_000005 rs4988345 - - - Despoina Kalfakakou
./. - c.517C>T r.(?) p.(Arg173Cys) g.59924572G>A - BRIP1_000005 rs4988345 - - - Despoina Kalfakakou
./. - c.517C>T r.(?) p.(Arg173Cys) g.59924572G>A - BRIP1_000005 rs4988345 - - - Despoina Kalfakakou
./. - c.550G>T r.(?) p.(Asp184Tyr) g.59924539C>A - BRIP1_000037 - - - - Despoina Kalfakakou
./. - c.550G>T r.(?) p.(Asp184Tyr) g.59924539C>A - BRIP1_000037 - - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - Despoina Kalfakakou
./. - c.584T>C r.(?) p.(Leu195Pro) g.59924505A>G - BRIP1_000049 rs4988347 - - - Despoina Kalfakakou
./. - c.584T>C r.(?) p.(Leu195Pro) g.59924505A>G - BRIP1_000049 rs4988347 - - - Despoina Kalfakakou
./. - c.587A>G r.(?) p.(Asn196Ser) g.59924502T>C - BRIP1_000029 - - - - Despoina Kalfakakou
./. - c.627+44G>T r.(=) p.(=) g.59924418C>A - BRIP1_000068 - - - - Despoina Kalfakakou
./. - c.670G>A r.(?) p.(Gly224Arg) g.59886076C>T - BRIP1_000053 - - - - Despoina Kalfakakou
./. - c.679C>G r.(?) p.(Gln227Glu) g.59886067G>C - BRIP1_000045 rs45459799 - - - Despoina Kalfakakou
./. - c.702G>A r.(=) p.(=) g.59886044C>T - BRIP1_000038 rs45512798 - - - Despoina Kalfakakou
./. - c.736A>G r.(?) p.(Ile246Val) g.59886010T>C - BRIP1_000015 - - - - Despoina Kalfakakou
./. - c.790C>T r.(?) p.(Arg264Trp) g.59885956G>A - BRIP1_000014 rs28997569 - - - Despoina Kalfakakou
./. - c.790C>T r.(?) p.(Arg264Trp) g.59885956G>A - BRIP1_000014 rs28997569 - - - Despoina Kalfakakou
./. - c.790C>T r.(?) p.(Arg264Trp) g.59885956G>A - BRIP1_000014 rs28997569 - - - Despoina Kalfakakou
./. - c.790C>T r.(?) p.(Arg264Trp) g.59885956G>A - BRIP1_000014 rs28997569 - - - Despoina Kalfakakou
./. - c.790C>T r.(?) p.(Arg264Trp) g.59885956G>A - BRIP1_000014 rs28997569 - - - Despoina Kalfakakou
./. - c.790C>T r.(?) p.(Arg264Trp) g.59885956G>A - BRIP1_000014 rs28997569 - - - Despoina Kalfakakou
./. - c.790C>T r.(?) p.(Arg264Trp) g.59885956G>A - BRIP1_000014 rs28997569 - - - Despoina Kalfakakou
./. - c.790C>T r.(?) p.(Arg264Trp) g.59885956G>A - BRIP1_000014 rs28997569 - - - Despoina Kalfakakou
./. - c.797C>T r.(?) p.(Thr266Met) g.59885949G>A - BRIP1_000041 - - - - Despoina Kalfakakou
./. - c.797C>T r.(?) p.(Thr266Met) g.59885949G>A - BRIP1_000041 - - - - Despoina Kalfakakou
./. - c.845C>G r.(?) p.(Thr282Ser) g.59885901G>C - BRIP1_000060 rs45624635 - - - Despoina Kalfakakou
./. - c.890A>G r.(?) p.(Lys297Arg) g.59885856T>C - BRIP1_000013 rs28997570 - - - Despoina Kalfakakou
./. - c.918+15T>A r.(=) p.(=) g.59885813A>T - BRIP1_000048 - - - - Despoina Kalfakakou
./. - c.918+42A>C r.(=) p.(=) g.59885786T>G - BRIP1_000003 - - - - Despoina Kalfakakou
./. - c.918+42A>C r.(=) p.(=) g.59885786T>G - BRIP1_000003 - - - - Despoina Kalfakakou
./. - c.918+42A>C r.(=) p.(=) g.59885786T>G - BRIP1_000003 - - - - Despoina Kalfakakou
./. - c.984_990del r.(?) p.(Phe328Leufs*8) g.59878764_59878770del - BRIP1_000012 - - - - Despoina Kalfakakou
./. - c.984_990del r.(?) p.(Phe328Leufs*8) g.59878764_59878770del - BRIP1_000012 - - - - Despoina Kalfakakou
./. - c.1140+11G>A r.(=) p.(=) g.59878603C>T - BRIP1_000043 - - - - Despoina Kalfakakou
./. - c.1141-25A>G r.(=) p.(=) g.59876685T>C - BRIP1_000058 - - - - Despoina Kalfakakou
./. - c.1141-21G>C r.(=) p.(=) g.59876681C>G - BRIP1_000071 - - - - Despoina Kalfakakou
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