Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32354860_32355660del | CA2499222270 | BRCA2 | c.7008-1_7435+372del c.6639-1_7066+372del n.7008-1_7435+372del c.6912-1_7339+372del | ClinVar dbSNP |
13 | g.32355008_32355015dup | CA2499222273 | BRCA2 | c.7155_7162dup (p.Thr2388IlefsTer9) c.6786_6793dup (p.Thr2265IlefsTer9) n.7155_7162dup c.7059_7066dup (p.Thr2356IlefsTer9) | ClinVar dbSNP |
13 | g.32355014T>A | CA483439626 | BRCA2 | c.7161T>A (p.Ala2387=) c.6792T>A (p.Ala2264=) n.7161T>A c.7065T>A (p.Ala2355=) | dbSNP |
13 | g.32355014T>C | CA483439622 | BRCA2 | c.7161T>C (p.Ala2387=) c.6792T>C (p.Ala2264=) n.7161T>C c.7065T>C (p.Ala2355=) | dbSNP gnomAD v4 |
13 | g.32355014T>G | CA483439621 | BRCA2 | c.7161T>G (p.Ala2387=) c.6792T>G (p.Ala2264=) n.7161T>G c.7065T>G (p.Ala2355=) | |
13 | g.32355015A= | CA2082809350 | BRCA2 | c.7162A= (p.Thr2388=) c.6793A= (p.Thr2265=) n.7162A= c.7066A= (p.Thr2356=) | |
13 | g.32355015A>C | CA387739345 | BRCA2 | c.7162A>C (p.Thr2388Pro) c.6793A>C (p.Thr2265Pro) n.7162A>C c.7066A>C (p.Thr2356Pro) | dbSNP |
13 | g.32355015A>G | CA16613931 | BRCA2 | c.7162A>G (p.Thr2388Ala) c.6793A>G (p.Thr2265Ala) n.7162A>G c.7066A>G (p.Thr2356Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32355015A>T | CA387739351 | BRCA2 | c.7162A>T (p.Thr2388Ser) c.6793A>T (p.Thr2265Ser) n.7162A>T c.7066A>T (p.Thr2356Ser) | dbSNP |
13 | g.32355016del | CA2580614669 | BRCA2 | c.7163del (p.Thr2388LysfsTer6) c.6794del (p.Thr2265LysfsTer6) n.7163del c.7067del (p.Thr2356LysfsTer6) | |
13 | g.32355016C>A | CA387739368 | BRCA2 | c.7163C>A (p.Thr2388Lys) c.6794C>A (p.Thr2265Lys) n.7163C>A c.7067C>A (p.Thr2356Lys) | gnomAD v3 gnomAD v4 |
13 | g.32355016C= | CA2082809361 | BRCA2 | c.7163C= (p.Thr2388=) c.6794C= (p.Thr2265=) n.7163C= c.7067C= (p.Thr2356=) | |
13 | g.32355016C>G | CA387739364 | BRCA2 | c.7163C>G (p.Thr2388Arg) c.6794C>G (p.Thr2265Arg) n.7163C>G c.7067C>G (p.Thr2356Arg) | |
13 | g.32355016C>T | CA387739359 | BRCA2 | c.7163C>T (p.Thr2388Ile) c.6794C>T (p.Thr2265Ile) n.7163C>T c.7067C>T (p.Thr2356Ile) | ClinVar dbSNP |
13 | g.32355016_32355021delinsCAAGAA | CA2082809360 | BRCA2 | c.7163_7168delinsCAAGAA (p.Thr2388=) c.6794_6799delinsCAAGAA (p.Thr2265=) n.7163_7168delinsCAAGAA c.7067_7072delinsCAAGAA (p.Thr2356=) | |
13 | g.32355017A= | CA2082809371 | BRCA2 | c.7164A= (p.Thr2388=) c.6795A= (p.Thr2265=) n.7164A= c.7068A= (p.Thr2356=) | |
13 | g.32355017A>C | CA483439630 | BRCA2 | c.7164A>C (p.Thr2388=) c.6795A>C (p.Thr2265=) n.7164A>C c.7068A>C (p.Thr2356=) | |
13 | g.32355017A>G | CA483439631 | BRCA2 | c.7164A>G (p.Thr2388=) c.6795A>G (p.Thr2265=) n.7164A>G c.7068A>G (p.Thr2356=) | |
13 | g.32355017A>T | CA483439632 | BRCA2 | c.7164A>T (p.Thr2388=) c.6795A>T (p.Thr2265=) n.7164A>T c.7068A>T (p.Thr2356=) | ClinVar dbSNP |
13 | g.32355018_32355022del | CA16619758 | BRCA2 | c.7165_7169del (p.Arg2389Ter) c.6796_6800del (p.Arg2266Ter) n.7165_7169del c.7069_7073del (p.Arg2357Ter) | ClinVar dbSNP |
13 | g.32355018A>C | CA483439634 | BRCA2 | c.7165A>C (p.Arg2389=) c.6796A>C (p.Arg2266=) n.7165A>C c.7069A>C (p.Arg2357=) | |
13 | g.32355018A>G | CA387739394 | BRCA2 | c.7165A>G (p.Arg2389Gly) c.6796A>G (p.Arg2266Gly) n.7165A>G c.7069A>G (p.Arg2357Gly) | ClinVar dbSNP |
13 | g.32355018A>T | CA387739385 | BRCA2 | c.7165A>T (p.Arg2389Ter) c.6796A>T (p.Arg2266Ter) n.7165A>T c.7069A>T (p.Arg2357Ter) | |
13 | g.32355018_32355019delinsAG | CA2082809381 | BRCA2 | c.7165_7166delinsAG (p.Arg2389=) c.6796_6797delinsAG (p.Arg2266=) n.7165_7166delinsAG c.7069_7070delinsAG (p.Arg2357=) | |
13 | g.32355019del | CA024917 | BRCA2 | c.7166del (p.Arg2389LysfsTer5) c.6797del (p.Arg2266LysfsTer5) n.7166del c.7070del (p.Arg2357LysfsTer5) | ClinVar dbSNP |
13 | g.32355019G>A | CA387739401 | BRCA2 | c.7166G>A (p.Arg2389Lys) c.6797G>A (p.Arg2266Lys) n.7166G>A c.7070G>A (p.Arg2357Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32355019G>C | CA387739399 | BRCA2 | c.7166G>C (p.Arg2389Thr) c.6797G>C (p.Arg2266Thr) n.7166G>C c.7070G>C (p.Arg2357Thr) | dbSNP |
13 | g.32355019G= | CA2082809393 | BRCA2 | c.7166G= (p.Arg2389=) c.6797G= (p.Arg2266=) n.7166G= c.7070G= (p.Arg2357=) | |
13 | g.32355019G>T | CA387739400 | BRCA2 | c.7166G>T (p.Arg2389Ile) c.6797G>T (p.Arg2266Ile) n.7166G>T c.7070G>T (p.Arg2357Ile) | ClinVar dbSNP |
13 | g.32355020A>C | CA387739407 | BRCA2 | c.7167A>C (p.Arg2389Ser) c.6798A>C (p.Arg2266Ser) n.7167A>C c.7071A>C (p.Arg2357Ser) | |
13 | g.32355020A>G | CA483439637 | BRCA2 | c.7167A>G (p.Arg2389=) c.6798A>G (p.Arg2266=) n.7167A>G c.7071A>G (p.Arg2357=) | |
13 | g.32355020A>T | CA387739408 | BRCA2 | c.7167A>T (p.Arg2389Ser) c.6798A>T (p.Arg2266Ser) n.7167A>T c.7071A>T (p.Arg2357Ser) | dbSNP |
13 | g.32355021A= | CA2082809405 | BRCA2 | c.7168A= (p.Asn2390=) c.6799A= (p.Asn2267=) n.7168A= c.7072A= (p.Asn2358=) | |
13 | g.32355021A>C | CA387739427 | BRCA2 | c.7168A>C (p.Asn2390His) c.6799A>C (p.Asn2267His) n.7168A>C c.7072A>C (p.Asn2358His) | |
13 | g.32355021A>G | CA10579725 | BRCA2 | c.7168A>G (p.Asn2390Asp) c.6799A>G (p.Asn2267Asp) n.7168A>G c.7072A>G (p.Asn2358Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32355021A>T | CA387739452 | BRCA2 | c.7168A>T (p.Asn2390Tyr) c.6799A>T (p.Asn2267Tyr) n.7168A>T c.7072A>T (p.Asn2358Tyr) | dbSNP |
13 | g.32355022A>C | CA387739458 | BRCA2 | c.7169A>C (p.Asn2390Thr) c.6800A>C (p.Asn2267Thr) n.7169A>C c.7073A>C (p.Asn2358Thr) | |
13 | g.32355022A>G | CA387739460 | BRCA2 | c.7169A>G (p.Asn2390Ser) c.6800A>G (p.Asn2267Ser) n.7169A>G c.7073A>G (p.Asn2358Ser) | |
13 | g.32355022A>T | CA387739464 | BRCA2 | c.7169A>T (p.Asn2390Ile) c.6800A>T (p.Asn2267Ile) n.7169A>T c.7073A>T (p.Asn2358Ile) | dbSNP |
13 | g.32355023T>A | CA387739495 | BRCA2 | c.7170T>A (p.Asn2390Lys) c.6801T>A (p.Asn2267Lys) n.7170T>A c.7074T>A (p.Asn2358Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32355023T>C | CA483439645 | BRCA2 | c.7170T>C (p.Asn2390=) c.6801T>C (p.Asn2267=) n.7170T>C c.7074T>C (p.Asn2358=) | ClinVar dbSNP |
13 | g.32355023T>G | CA387739499 | BRCA2 | c.7170T>G (p.Asn2390Lys) c.6801T>G (p.Asn2267Lys) n.7170T>G c.7074T>G (p.Asn2358Lys) | dbSNP gnomAD v4 |
13 | g.32355023T= | CA2082809416 | BRCA2 | c.7170T= (p.Asn2390=) c.6801T= (p.Asn2267=) n.7170T= c.7074T= (p.Asn2358=) | |
13 | g.32355024G>A | CA387739509 | BRCA2 | c.7171G>A (p.Glu2391Lys) c.6802G>A (p.Glu2268Lys) n.7171G>A c.7075G>A (p.Glu2359Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
13 | g.32355024G>C | CA387739507 | BRCA2 | c.7171G>C (p.Glu2391Gln) c.6802G>C (p.Glu2268Gln) n.7171G>C c.7075G>C (p.Glu2359Gln) | dbSNP |
13 | g.32355024G>T | CA387739504 | BRCA2 | c.7171G>T (p.Glu2391Ter) c.6802G>T (p.Glu2268Ter) n.7171G>T c.7075G>T (p.Glu2359Ter) | ClinVar |
13 | g.32355024_32355025delinsGA | CA2082809423 | BRCA2 | c.7171_7172delinsGA (p.Glu2391=) c.6802_6803delinsGA (p.Glu2268=) n.7171_7172delinsGA c.7075_7076delinsGA (p.Glu2359=) | |
13 | g.32355025A= | CA2082809427 | BRCA2 | c.7172A= (p.Glu2391=) c.6803A= (p.Glu2268=) n.7172A= c.7076A= (p.Glu2359=) | |
13 | g.32355025A>C | CA387739510 | BRCA2 | c.7172A>C (p.Glu2391Ala) c.6803A>C (p.Glu2268Ala) n.7172A>C c.7076A>C (p.Glu2359Ala) | |
13 | g.32355025A>G | CA387739512 | BRCA2 | c.7172A>G (p.Glu2391Gly) c.6803A>G (p.Glu2268Gly) n.7172A>G c.7076A>G (p.Glu2359Gly) | dbSNP gnomAD v2 gnomAD v4 |