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.32330999_32331004delinsAAACAC | CA2082759547 | BRCA2 | c.762_767delinsAAACAC (p.Glu254=) c.393_398delinsAAACAC (p.Glu131=) c.*541_*546delinsAAACAC (n.*541_*546delinsAAACAC) n.960_965delinsAAACAC n.762_767delinsAAACAC | |
13 | g.32331002_32331006del | CA1139663099 | BRCA2 | c.765_769del (p.Asn255LysfsTer19) c.396_400del (p.Asn132LysfsTer19) c.*544_*548del (n.*544_*548del) n.963_967del n.765_769del | ClinVar dbSNP |
13 | g.32331004_32331005del | CA025221 | BRCA2 | c.767_768del (p.Thr256LysfsTer19) c.398_399del (p.Thr133LysfsTer19) c.*546_*547del (n.*546_*547del) n.965_966del n.767_768del | dbSNP |
13 | g.32331001_32331007delinsACACAAA | CA2082759579 | BRCA2 | c.764_770delinsACACAAA (p.Asn255=) c.395_401delinsACACAAA (p.Asn132=) c.*543_*549delinsACACAAA (n.*543_*549delinsACACAAA) n.962_968delinsACACAAA n.764_770delinsACACAAA | |
13 | g.32331002_32331007delinsAAACAAT | CA10589051 | BRCA2 | c.765_770delinsAAACAAT (p.Asn255LysfsTer21) c.396_401delinsAAACAAT (p.Asn132LysfsTer21) c.*544_*549delinsAAACAAT (n.*544_*549delinsAAACAAT) n.963_968delinsAAACAAT n.765_770delinsAAACAAT | ClinVar dbSNP |
13 | g.32331003_32331004delinsAC | CA2082759597 | BRCA2 | c.766_767delinsAC (p.Thr256=) c.397_398delinsAC (p.Thr133=) c.*545_*546delinsAC (n.*545_*546delinsAC) n.964_965delinsAC n.766_767delinsAC | |
13 | g.32331003_32331008delinsACAAAT | CA2082759598 | BRCA2 | c.766_771delinsACAAAT (p.Thr256=) c.397_402delinsACAAAT (p.Thr133=) c.*545_*550delinsACAAAT (n.*545_*550delinsACAAAT) n.964_969delinsACAAAT n.766_771delinsACAAAT | |
13 | g.32331004del | CA025224 | BRCA2 | c.767del (p.Thr256LysfsTer21) c.398del (p.Thr133LysfsTer21) c.*546del (n.*546del) n.965del n.767del | ClinVar dbSNP |
13 | g.32331004C>A | CA387760158 | BRCA2 | c.767C>A (p.Thr256Lys) c.398C>A (p.Thr133Lys) c.*546C>A (n.*546C>A) n.965C>A n.767C>A | gnomAD v4 |
13 | g.32331004C= | CA2082759617 | BRCA2 | c.767C= (p.Thr256=) c.398C= (p.Thr133=) c.*546C= (n.*546C=) n.965C= n.767C= | |
13 | g.32331004C>G | CA387760160 | BRCA2 | c.767C>G (p.Thr256Arg) c.398C>G (p.Thr133Arg) c.*546C>G (n.*546C>G) n.965C>G n.767C>G | ClinVar dbSNP |
13 | g.32331004C>T | CA16619650 | BRCA2 | c.767C>T (p.Thr256Ile) c.398C>T (p.Thr133Ile) c.*546C>T (n.*546C>T) n.965C>T n.767C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32331004_32331005delinsCA | CA2082759613 | BRCA2 | c.767_768delinsCA (p.Thr256=) c.398_399delinsCA (p.Thr133=) c.*546_*547delinsCA (n.*546_*547delinsCA) n.965_966delinsCA n.767_768delinsCA | |
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.32331005A>C | CA483274501 | BRCA2 | c.768A>C (p.Thr256=) c.399A>C (p.Thr133=) c.*547A>C (n.*547A>C) n.966A>C n.768A>C | ClinVar |
13 | g.32331005A>G | CA483274502 | BRCA2 | c.768A>G (p.Thr256=) c.399A>G (p.Thr133=) c.*547A>G (n.*547A>G) n.966A>G n.768A>G | dbSNP |
13 | g.32331005A>T | CA483274503 | BRCA2 | c.768A>T (p.Thr256=) c.399A>T (p.Thr133=) c.*547A>T (n.*547A>T) n.966A>T n.768A>T | dbSNP |
13 | g.32331007del | CA916080540 | BRCA2 | c.770del (p.Asn257IlefsTer20) c.401del (p.Asn134IlefsTer20) c.*549del (n.*549del) n.968del n.770del | ClinVar dbSNP |
13 | g.32331006A>C | CA387760163 | BRCA2 | c.769A>C (p.Asn257His) c.400A>C (p.Asn134His) c.*548A>C (n.*548A>C) n.967A>C n.769A>C | |
13 | g.32331006A>G | CA387760165 | BRCA2 | c.769A>G (p.Asn257Asp) c.400A>G (p.Asn134Asp) c.*548A>G (n.*548A>G) n.967A>G n.769A>G | |
13 | g.32331006A>T | CA387760166 | BRCA2 | c.769A>T (p.Asn257Tyr) c.400A>T (p.Asn134Tyr) c.*548A>T (n.*548A>T) n.967A>T n.769A>T | dbSNP |
13 | g.32331007A= | CA2082759637 | BRCA2 | c.770A= (p.Asn257=) c.401A= (p.Asn134=) c.*549A= (n.*549A=) n.968A= n.770A= | |
13 | g.32331007A>C | CA025241 | BRCA2 | c.770A>C (p.Asn257Thr) c.401A>C (p.Asn134Thr) c.*549A>C (n.*549A>C) n.968A>C n.770A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32331007A>G | CA387760169 | BRCA2 | c.770A>G (p.Asn257Ser) c.401A>G (p.Asn134Ser) c.*549A>G (n.*549A>G) n.968A>G n.770A>G | |
13 | g.32331007A>T | CA387760171 | BRCA2 | c.770A>T (p.Asn257Ile) c.401A>T (p.Asn134Ile) c.*549A>T (n.*549A>T) n.968A>T n.770A>T | ClinVar |
13 | g.32331008T>A | CA387760173 | BRCA2 | c.771T>A (p.Asn257Lys) c.402T>A (p.Asn134Lys) c.*550T>A (n.*550T>A) n.969T>A n.771T>A | dbSNP |
13 | g.32331008T>C | CA483274506 | BRCA2 | c.771T>C (p.Asn257=) c.402T>C (p.Asn134=) c.*550T>C (n.*550T>C) n.969T>C n.771T>C | gnomAD v4 |
13 | g.32331008T>G | CA387760174 | BRCA2 | c.771T>G (p.Asn257Lys) c.402T>G (p.Asn134Lys) c.*550T>G (n.*550T>G) n.969T>G n.771T>G | dbSNP |
13 | g.32331008_32331009insTCAAA | CA247494324 | BRCA2 | c.771_772insTCAAA (p.Gln258SerfsTer21) c.402_403insTCAAA (p.Gln135SerfsTer21) c.*550_*551insTCAAA (n.*550_*551insTCAAA) n.969_970insTCAAA n.771_772insTCAAA | |
13 | g.32331009C>A | CA387760177 | BRCA2 | c.772C>A (p.Gln258Lys) c.403C>A (p.Gln135Lys) c.*551C>A (n.*551C>A) n.970C>A n.772C>A | dbSNP |
13 | g.32331009C= | CA2082759647 | BRCA2 | c.772C= (p.Gln258=) c.403C= (p.Gln135=) c.*551C= (n.*551C=) n.970C= n.772C= | |
13 | g.32331009C>G | CA387760178 | BRCA2 | c.772C>G (p.Gln258Glu) c.403C>G (p.Gln135Glu) c.*551C>G (n.*551C>G) n.970C>G n.772C>G | dbSNP |
13 | g.32331009C>T | CA025248 | BRCA2 | c.772C>T (p.Gln258Ter) c.403C>T (p.Gln135Ter) c.*551C>T (n.*551C>T) n.970C>T n.772C>T | ClinVar dbSNP 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 |