Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
13 | g.32330917_32331031del | CA2499222059 | BRCA2 | c.682-2_793+1del c.313-2_424+1del c.*461-2_*572+1del n.880-2_991+1del n.682-2_793+1del | ClinVar dbSNP |
13 | g.32331011_32331014del | CA658653665 | BRCA2 | c.774_777del (p.Arg259LysfsTer17) c.405_408del (p.Arg136LysfsTer17) c.*553_*556del (n.*553_*556del) n.972_975del n.774_777del | ClinVar dbSNP |
13 | g.32331010_32331017delinsAAAGAGAA | CA2082759680 | BRCA2 | c.773_780delinsAAAGAGAA (p.Gln258=) c.404_411delinsAAAGAGAA (p.Gln135=) c.*552_*559delinsAAAGAGAA (n.*552_*559delinsAAAGAGAA) n.971_978delinsAAAGAGAA n.773_780delinsAAAGAGAA | |
13 | g.32331012_32331017del | CA2573149308 | BRCA2 | c.775_780del (p.Arg259_Glu260del) c.406_411del (p.Arg136_Glu137del) c.*554_*559del (n.*554_*559del) n.973_978del n.775_780del | dbSNP |
13 | g.32331011_32331017delinsT | CA025253 | BRCA2 | c.774_780delinsT (p.Gln258_Glu260delinsHis) c.405_411delinsT (p.Gln135_Glu137delinsHis) c.*553_*559delinsT (n.*553_*559delinsT) n.972_978delinsT n.774_780delinsT | ClinVar dbSNP |
13 | g.32331015_32331016del | CA025258 | BRCA2 | c.778_779del (p.Glu260SerfsTer15) c.409_410del (p.Glu137SerfsTer15) c.*557_*558del (n.*557_*558del) n.976_977del n.778_779del | ClinVar dbSNP |
13 | g.32331013_32331016del | CA2622599904 | BRCA2 | c.776_779del (p.Arg259LysfsTer17) c.407_410del (p.Arg136LysfsTer17) c.*555_*558del (n.*555_*558del) n.974_977del n.776_779del | gnomAD v4 |
13 | g.32331014A= | CA2082759725 | BRCA2 | c.777A= (p.Arg259=) c.408A= (p.Arg136=) c.*556A= (n.*556A=) n.975A= n.777A= | |
13 | g.32331014A>C | CA387760196 | BRCA2 | c.777A>C (p.Arg259Ser) c.408A>C (p.Arg136Ser) c.*556A>C (n.*556A>C) n.975A>C n.777A>C | |
13 | g.32331014A>G | CA025272 | BRCA2 | c.777A>G (p.Arg259=) c.408A>G (p.Arg136=) c.*556A>G (n.*556A>G) n.975A>G n.777A>G | ClinVar dbSNP |
13 | g.32331014A>T | CA387760199 | BRCA2 | c.777A>T (p.Arg259Ser) c.408A>T (p.Arg136Ser) c.*556A>T (n.*556A>T) n.975A>T n.777A>T | dbSNP |
13 | g.32331015G>A | CA387760200 | BRCA2 | c.778G>A (p.Glu260Lys) c.409G>A (p.Glu137Lys) c.*557G>A (n.*557G>A) n.976G>A n.778G>A | ClinVar dbSNP |
13 | g.32331015G>C | CA387760201 | BRCA2 | c.778G>C (p.Glu260Gln) c.409G>C (p.Glu137Gln) c.*557G>C (n.*557G>C) n.976G>C n.778G>C | dbSNP |
13 | g.32331015G= | CA2082759730 | BRCA2 | c.778G= (p.Glu260=) c.409G= (p.Glu137=) c.*557G= (n.*557G=) n.976G= n.778G= | |
13 | g.32331015G>T | CA387760203 | BRCA2 | c.778G>T (p.Glu260Ter) c.409G>T (p.Glu137Ter) c.*557G>T (n.*557G>T) n.976G>T n.778G>T | ClinVar dbSNP |
13 | g.32331015_32331016delinsTC | CA2580087095 | BRCA2 | c.778_779delinsTC (p.Glu260Ser) c.409_410delinsTC (p.Glu137Ser) c.*557_*558delinsTC (n.*557_*558delinsTC) n.976_977delinsTC n.778_779delinsTC | ClinVar |
13 | g.32331016A= | CA2082759737 | BRCA2 | c.779A= (p.Glu260=) c.410A= (p.Glu137=) c.*558A= (n.*558A=) n.977A= n.779A= | |
13 | g.32331016A>C | CA387760207 | BRCA2 | c.779A>C (p.Glu260Ala) c.410A>C (p.Glu137Ala) c.*558A>C (n.*558A>C) n.977A>C n.779A>C | ClinVar |
13 | g.32331016A>G | CA387760209 | BRCA2 | c.779A>G (p.Glu260Gly) c.410A>G (p.Glu137Gly) c.*558A>G (n.*558A>G) n.977A>G n.779A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32331016A>T | CA387760206 | BRCA2 | c.779A>T (p.Glu260Val) c.410A>T (p.Glu137Val) c.*558A>T (n.*558A>T) n.977A>T n.779A>T | |
13 | g.32331017A>C | CA387760213 | BRCA2 | c.780A>C (p.Glu260Asp) c.411A>C (p.Glu137Asp) c.*559A>C (n.*559A>C) n.978A>C n.780A>C | ClinVar |
13 | g.32331017A>G | CA483274537 | BRCA2 | c.780A>G (p.Glu260=) c.411A>G (p.Glu137=) c.*559A>G (n.*559A>G) n.978A>G n.780A>G | dbSNP |
13 | g.32331017A>T | CA387760211 | BRCA2 | c.780A>T (p.Glu260Asp) c.411A>T (p.Glu137Asp) c.*559A>T (n.*559A>T) n.978A>T n.780A>T | ClinVar dbSNP |
13 | g.32331018G>A | CA387760214 | BRCA2 | c.781G>A (p.Ala261Thr) c.412G>A (p.Ala138Thr) c.*560G>A (n.*560G>A) n.979G>A n.781G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32331018G>C | CA387760216 | BRCA2 | c.781G>C (p.Ala261Pro) c.412G>C (p.Ala138Pro) c.*560G>C (n.*560G>C) n.979G>C n.781G>C | ClinVar dbSNP |
13 | g.32331018G= | CA2082759746 | BRCA2 | c.781G= (p.Ala261=) c.412G= (p.Ala138=) c.*560G= (n.*560G=) n.979G= n.781G= | |
13 | g.32331018G>T | CA387760219 | BRCA2 | c.781G>T (p.Ala261Ser) c.412G>T (p.Ala138Ser) c.*560G>T (n.*560G>T) n.979G>T n.781G>T | |
13 | g.32331019del | CA2695199245 | BRCA2 | c.782del (p.Ala261ValfsTer16) c.413del (p.Ala138ValfsTer16) c.*561del (n.*561del) n.980del n.782del | ClinVar |
13 | g.32331019C>A | CA387760220 | BRCA2 | c.782C>A (p.Ala261Asp) c.413C>A (p.Ala138Asp) c.*561C>A (n.*561C>A) n.980C>A n.782C>A | dbSNP gnomAD v4 |
13 | g.32331019C>G | CA387760222 | BRCA2 | c.782C>G (p.Ala261Gly) c.413C>G (p.Ala138Gly) c.*561C>G (n.*561C>G) n.980C>G n.782C>G | dbSNP |
13 | g.32331019C>T | CA387760224 | BRCA2 | c.782C>T (p.Ala261Val) c.413C>T (p.Ala138Val) c.*561C>T (n.*561C>T) n.980C>T n.782C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32331020T>A | CA483274544 | BRCA2 | c.783T>A (p.Ala261=) c.414T>A (p.Ala138=) c.*562T>A (n.*562T>A) n.981T>A n.783T>A | dbSNP |
13 | g.32331020T>C | CA483274542 | BRCA2 | c.783T>C (p.Ala261=) c.414T>C (p.Ala138=) c.*562T>C (n.*562T>C) n.981T>C n.783T>C | dbSNP |
13 | g.32331020T>G | CA483274539 | BRCA2 | c.783T>G (p.Ala261=) c.414T>G (p.Ala138=) c.*562T>G (n.*562T>G) n.981T>G n.783T>G | gnomAD v4 |
13 | g.32331021del | CA2499222061 | BRCA2 | c.784del (p.Ala262GlnfsTer15) c.415del (p.Ala139GlnfsTer15) c.*563del (n.*563del) n.982del n.784del | |
13 | g.32331021G>A | CA025308 | BRCA2 | c.784G>A (p.Ala262Thr) c.415G>A (p.Ala139Thr) c.*563G>A (n.*563G>A) n.982G>A n.784G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32331021G>C | CA387760226 | BRCA2 | c.784G>C (p.Ala262Pro) c.415G>C (p.Ala139Pro) c.*563G>C (n.*563G>C) n.982G>C n.784G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32331021G= | CA2082759760 | BRCA2 | c.784G= (p.Ala262=) c.415G= (p.Ala139=) c.*563G= (n.*563G=) n.982G= n.784G= | |
13 | g.32331021G>T | CA387760228 | BRCA2 | c.784G>T (p.Ala262Ser) c.415G>T (p.Ala139Ser) c.*563G>T (n.*563G>T) n.982G>T n.784G>T | |
13 | g.32331022C>A | CA387760230 | BRCA2 | c.785C>A (p.Ala262Glu) c.416C>A (p.Ala139Glu) c.*564C>A (n.*564C>A) n.983C>A n.785C>A | dbSNP gnomAD v4 |
13 | g.32331022C= | CA2082759765 | BRCA2 | c.785C= (p.Ala262=) c.416C= (p.Ala139=) c.*564C= (n.*564C=) n.983C= n.785C= | |
13 | g.32331022C>G | CA387760232 | BRCA2 | c.785C>G (p.Ala262Gly) c.416C>G (p.Ala139Gly) c.*564C>G (n.*564C>G) n.983C>G n.785C>G | dbSNP |
13 | g.32331022C>T | CA10579472 | BRCA2 | c.785C>T (p.Ala262Val) c.416C>T (p.Ala139Val) c.*564C>T (n.*564C>T) n.983C>T n.785C>T | ClinVar dbSNP COSMIC |
13 | g.32331023A>C | CA483274554 | BRCA2 | c.786A>C (p.Ala262=) c.417A>C (p.Ala139=) c.*565A>C (n.*565A>C) n.984A>C n.786A>C | |
13 | g.32331023A>G | CA483274553 | BRCA2 | c.786A>G (p.Ala262=) c.417A>G (p.Ala139=) c.*565A>G (n.*565A>G) n.984A>G n.786A>G | dbSNP |
13 | g.32331023A>T | CA483274551 | BRCA2 | c.786A>T (p.Ala262=) c.417A>T (p.Ala139=) c.*565A>T (n.*565A>T) n.984A>T n.786A>T | dbSNP |
13 | g.32331024dup | CA273049 | BRCA2 | c.787dup (p.Ser263LysfsTer13) c.418dup (p.Ser140LysfsTer13) c.*566dup (n.*566dup) n.985dup n.787dup | ClinVar dbSNP |
13 | g.32331024A>C | CA387760242 | BRCA2 | c.787A>C (p.Ser263Arg) c.418A>C (p.Ser140Arg) c.*566A>C (n.*566A>C) n.985A>C n.787A>C | ClinVar |
13 | g.32331024A>G | CA387760234 | BRCA2 | c.787A>G (p.Ser263Gly) c.418A>G (p.Ser140Gly) c.*566A>G (n.*566A>G) n.985A>G n.787A>G | ClinVar dbSNP |