| 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.32331008_32331012del | CA025222 | BRCA2 | c.771_775del (p.Asn257LysfsTer17) c.402_406del (p.Asn134LysfsTer17) c.*550_*554del (n.*550_*554del) n.969_973del n.771_775del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32331009_32331011delinsCAA | CA2082759646 | BRCA2 | c.772_774delinsCAA (p.Gln258=) c.403_405delinsCAA (p.Gln135=) c.*551_*553delinsCAA (n.*551_*553delinsCAA) n.970_972delinsCAA n.772_774delinsCAA | |
| 13 | g.32331009_32331013delinsCAAAG | CA2082759656 | BRCA2 | c.772_776delinsCAAAG (p.Gln258=) c.403_407delinsCAAAG (p.Gln135=) c.*551_*555delinsCAAAG (n.*551_*555delinsCAAAG) n.970_974delinsCAAAG n.772_776delinsCAAAG | |
| 13 | g.32331010A= | CA2082759681 | BRCA2 | c.773A= (p.Gln258=) c.404A= (p.Gln135=) c.*552A= (n.*552A=) n.971A= n.773A= | |
| 13 | g.32331010A>C | CA387760185 | BRCA2 | c.773A>C (p.Gln258Pro) c.404A>C (p.Gln135Pro) c.*552A>C (n.*552A>C) n.971A>C n.773A>C | |
| 13 | g.32331010A>G | CA6940441 | BRCA2 | c.773A>G (p.Gln258Arg) c.404A>G (p.Gln135Arg) c.*552A>G (n.*552A>G) n.971A>G n.773A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32331010A>T | CA387760182 | BRCA2 | c.773A>T (p.Gln258Leu) c.404A>T (p.Gln135Leu) c.*552A>T (n.*552A>T) n.971A>T n.773A>T | dbSNP |
| 13 | g.32331012del | CA025263 | BRCA2 | c.775del (p.Arg259GlufsTer18) c.406del (p.Arg136GlufsTer18) c.*554del (n.*554del) n.973del n.775del | ClinVar dbSNP |
| 13 | g.32331011_32331012del | CA025252 | BRCA2 | c.774_775del (p.Glu260SerfsTer15) c.405_406del (p.Glu137SerfsTer15) c.*553_*554del (n.*553_*554del) n.972_973del n.774_775del | ClinVar dbSNP gnomAD v4 |
| 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.32331011A= | CA2082759702 | BRCA2 | c.774A= (p.Gln258=) c.405A= (p.Gln135=) c.*553A= (n.*553A=) n.972A= n.774A= | |
| 13 | g.32331011A>C | CA387760186 | BRCA2 | c.774A>C (p.Gln258His) c.405A>C (p.Gln135His) c.*553A>C (n.*553A>C) n.972A>C n.774A>C | |
| 13 | g.32331011A>G | CA483274514 | BRCA2 | c.774A>G (p.Gln258=) c.405A>G (p.Gln135=) c.*553A>G (n.*553A>G) n.972A>G n.774A>G | ClinVar dbSNP |
| 13 | g.32331011A>T | CA387760188 | BRCA2 | c.774A>T (p.Gln258His) c.405A>T (p.Gln135His) c.*553A>T (n.*553A>T) n.972A>T n.774A>T | |
| 13 | g.32331011_32331013delinsAAG | CA2082759699 | BRCA2 | c.774_776delinsAAG (p.Gln258=) c.405_407delinsAAG (p.Gln135=) c.*553_*555delinsAAG (n.*553_*555delinsAAG) n.972_974delinsAAG n.774_776delinsAAG | |
| 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.32331012A= | CA2082759714 | BRCA2 | c.775A= (p.Arg259=) c.406A= (p.Arg136=) c.*554A= (n.*554A=) n.973A= n.775A= | |
| 13 | g.32331012A>C | CA483274528 | BRCA2 | c.775A>C (p.Arg259=) c.406A>C (p.Arg136=) c.*554A>C (n.*554A>C) n.973A>C n.775A>C | |
| 13 | g.32331012A>G | CA387760192 | BRCA2 | c.775A>G (p.Arg259Gly) c.406A>G (p.Arg136Gly) c.*554A>G (n.*554A>G) n.973A>G n.775A>G | dbSNP |
| 13 | g.32331012A>T | CA025262 | BRCA2 | c.775A>T (p.Arg259Ter) c.406A>T (p.Arg136Ter) c.*554A>T (n.*554A>T) n.973A>T n.775A>T | 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 | 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.32331013G>A | CA387760193 | BRCA2 | c.776G>A (p.Arg259Lys) c.407G>A (p.Arg136Lys) c.*555G>A (n.*555G>A) n.974G>A n.776G>A | ClinVar dbSNP |
| 13 | g.32331013G>C | CA387760194 | BRCA2 | c.776G>C (p.Arg259Thr) c.407G>C (p.Arg136Thr) c.*555G>C (n.*555G>C) n.974G>C n.776G>C | dbSNP |
| 13 | g.32331013G= | CA2082759722 | BRCA2 | c.776G= (p.Arg259=) c.407G= (p.Arg136=) c.*555G= (n.*555G=) n.974G= n.776G= | |
| 13 | g.32331013G>T | CA387760195 | BRCA2 | c.776G>T (p.Arg259Ile) c.407G>T (p.Arg136Ile) c.*555G>T (n.*555G>T) n.974G>T n.776G>T | |
| 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 | |
| 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 | 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 |