Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32337904A>C | CA387777215 | BRCA2 | c.3549A>C (p.Glu1183Asp) c.3180A>C (p.Glu1060Asp) n.3549A>C | |
13 | g.32337904A>G | CA483437607 | BRCA2 | c.3549A>G (p.Glu1183=) c.3180A>G (p.Glu1060=) n.3549A>G | dbSNP |
13 | g.32337904A>T | CA387777217 | BRCA2 | c.3549A>T (p.Glu1183Asp) c.3180A>T (p.Glu1060Asp) n.3549A>T | dbSNP |
13 | g.32337905G>A | CA387777220 | BRCA2 | c.3550G>A (p.Gly1184Ser) c.3181G>A (p.Gly1061Ser) n.3550G>A | ClinVar dbSNP COSMIC COSMIC |
13 | g.32337905G>C | CA387777225 | BRCA2 | c.3550G>C (p.Gly1184Arg) c.3181G>C (p.Gly1061Arg) n.3550G>C | dbSNP |
13 | g.32337905G= | CA2082818289 | BRCA2 | c.3550G= (p.Gly1184=) c.3181G= (p.Gly1061=) n.3550G= | |
13 | g.32337905G>T | CA387777221 | BRCA2 | c.3550G>T (p.Gly1184Cys) c.3181G>T (p.Gly1061Cys) n.3550G>T | ClinVar dbSNP |
13 | g.32337906G>A | CA387777227 | BRCA2 | c.3551G>A (p.Gly1184Asp) c.3182G>A (p.Gly1061Asp) n.3551G>A | ClinVar dbSNP |
13 | g.32337906G>C | CA018307 | BRCA2 | c.3551G>C (p.Gly1184Ala) c.3182G>C (p.Gly1061Ala) n.3551G>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337906G= | CA2082818297 | BRCA2 | c.3551G= (p.Gly1184=) c.3182G= (p.Gly1061=) n.3551G= | |
13 | g.32337906G>T | CA387777229 | BRCA2 | c.3551G>T (p.Gly1184Val) c.3182G>T (p.Gly1061Val) n.3551G>T | |
13 | g.32337907T>A | CA483437608 | BRCA2 | c.3552T>A (p.Gly1184=) c.3183T>A (p.Gly1061=) n.3552T>A | dbSNP |
13 | g.32337907T>C | CA483437609 | BRCA2 | c.3552T>C (p.Gly1184=) c.3183T>C (p.Gly1061=) n.3552T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32337907T>G | CA483437610 | BRCA2 | c.3552T>G (p.Gly1184=) c.3183T>G (p.Gly1061=) n.3552T>G | |
13 | g.32337907T= | CA2082818305 | BRCA2 | c.3552T= (p.Gly1184=) c.3183T= (p.Gly1061=) n.3552T= | |
13 | g.32337907_32337909delinsTAC | CA2082818304 | BRCA2 | c.3552_3554delinsTAC (p.Gly1184=) c.3183_3185delinsTAC (p.Gly1061=) n.3552_3554delinsTAC | |
13 | g.32337908A= | CA2082818317 | BRCA2 | c.3553A= (p.Thr1185=) c.3184A= (p.Thr1062=) n.3553A= | |
13 | g.32337908A>C | CA387777234 | BRCA2 | c.3553A>C (p.Thr1185Pro) c.3184A>C (p.Thr1062Pro) n.3553A>C | |
13 | g.32337908A>G | CA018312 | BRCA2 | c.3553A>G (p.Thr1185Ala) c.3184A>G (p.Thr1062Ala) n.3553A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337908A>T | CA387777237 | BRCA2 | c.3553A>T (p.Thr1185Ser) c.3184A>T (p.Thr1062Ser) n.3553A>T | |
13 | g.32337908dup | CA2573149323 | BRCA2 | c.3553dup (p.Thr1185AsnfsTer3) c.3184dup (p.Thr1062AsnfsTer3) n.3553dup | ClinVar dbSNP |
13 | g.32337909_32337910del | CA018315 | BRCA2 | c.3554_3555del (p.Thr1185SerfsTer2) c.3185_3186del (p.Thr1062SerfsTer2) n.3554_3555del | ClinVar dbSNP |
13 | g.32337908_32337918delinsACAGTTGAAAT | CA2082818319 | BRCA2 | c.3553_3563delinsACAGTTGAAAT (p.Thr1185=) c.3184_3194delinsACAGTTGAAAT (p.Thr1062=) n.3553_3563delinsACAGTTGAAAT | |
13 | g.32337909C>A | CA387777242 | BRCA2 | c.3554C>A (p.Thr1185Lys) c.3185C>A (p.Thr1062Lys) n.3554C>A | |
13 | g.32337909C= | CA2082818335 | BRCA2 | c.3554C= (p.Thr1185=) c.3185C= (p.Thr1062=) n.3554C= | |
13 | g.32337909C>G | CA387777246 | BRCA2 | c.3554C>G (p.Thr1185Arg) c.3185C>G (p.Thr1062Arg) n.3554C>G | |
13 | g.32337909C>T | CA387777248 | BRCA2 | c.3554C>T (p.Thr1185Ile) c.3185C>T (p.Thr1062Ile) n.3554C>T | ClinVar dbSNP |
13 | g.32337909_32337918del | CA018321 | BRCA2 | c.3554_3563del (p.Thr1185IlefsTer9) c.3185_3194del (p.Thr1062IlefsTer9) n.3554_3563del | ClinVar dbSNP |
13 | g.32337909_32337919delinsCAGTTGAAATT | CA2082818338 | BRCA2 | c.3554_3564delinsCAGTTGAAATT (p.Thr1185=) c.3185_3195delinsCAGTTGAAATT (p.Thr1062=) n.3554_3564delinsCAGTTGAAATT | |
13 | g.32337910A= | CA2082818355 | BRCA2 | c.3555A= (p.Thr1185=) c.3186A= (p.Thr1062=) n.3555A= | |
13 | g.32337910A>C | CA483437611 | BRCA2 | c.3555A>C (p.Thr1185=) c.3186A>C (p.Thr1062=) n.3555A>C | |
13 | g.32337910A>G | CA10579582 | BRCA2 | c.3555A>G (p.Thr1185=) c.3186A>G (p.Thr1062=) n.3555A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337910A>T | CA483437612 | BRCA2 | c.3555A>T (p.Thr1185=) c.3186A>T (p.Thr1062=) n.3555A>T | ClinVar dbSNP |
13 | g.32337910_32337911delinsAG | CA2082818353 | BRCA2 | c.3555_3556delinsAG (p.Thr1185=) c.3186_3187delinsAG (p.Thr1062=) n.3555_3556delinsAG | |
13 | g.32337911_32337920del | CA018331 | BRCA2 | c.3556_3565del (p.Val1186AsnfsTer8) c.3187_3196del (p.Val1063AsnfsTer8) n.3556_3565del | ClinVar dbSNP |
13 | g.32337911G>A | CA018342 | BRCA2 | c.3556G>A (p.Val1186Ile) c.3187G>A (p.Val1063Ile) n.3556G>A | ClinVar dbSNP |
13 | g.32337911G>C | CA387777255 | BRCA2 | c.3556G>C (p.Val1186Leu) c.3187G>C (p.Val1063Leu) n.3556G>C | dbSNP |
13 | g.32337911G= | CA2082818372 | BRCA2 | c.3556G= (p.Val1186=) c.3187G= (p.Val1063=) n.3556G= | |
13 | g.32337911G>T | CA387777256 | BRCA2 | c.3556G>T (p.Val1186Phe) c.3187G>T (p.Val1063Phe) n.3556G>T | |
13 | g.32337911delinsTTACAA | CA915948454 | BRCA2 | c.3556delinsTTACAA (p.Val1186LeufsTer13) c.3187delinsTTACAA (p.Val1063LeufsTer13) n.3556delinsTTACAA | ClinVar dbSNP |
13 | g.32337912T>A | CA387777259 | BRCA2 | c.3557T>A (p.Val1186Asp) c.3188T>A (p.Val1063Asp) n.3557T>A | ClinVar dbSNP |
13 | g.32337912T>C | CA6940703 | BRCA2 | c.3557T>C (p.Val1186Ala) c.3188T>C (p.Val1063Ala) n.3557T>C | dbSNP ExAC gnomAD v2 |
13 | g.32337912T>G | CA387777263 | BRCA2 | c.3557T>G (p.Val1186Gly) c.3188T>G (p.Val1063Gly) n.3557T>G | |
13 | g.32337912T= | CA2082818381 | BRCA2 | c.3557T= (p.Val1186=) c.3188T= (p.Val1063=) n.3557T= | |
13 | g.32337913T>A | CA483437613 | BRCA2 | c.3558T>A (p.Val1186=) c.3189T>A (p.Val1063=) n.3558T>A | dbSNP |
13 | g.32337913T>C | CA483437615 | BRCA2 | c.3558T>C (p.Val1186=) c.3189T>C (p.Val1063=) n.3558T>C | ClinVar dbSNP |
13 | g.32337913T>G | CA483437614 | BRCA2 | c.3558T>G (p.Val1186=) c.3189T>G (p.Val1063=) n.3558T>G | dbSNP |
13 | g.32337913T= | CA2082818390 | BRCA2 | c.3558T= (p.Val1186=) c.3189T= (p.Val1063=) n.3558T= | |
13 | g.32337914G>A | CA387777270 | BRCA2 | c.3559G>A (p.Glu1187Lys) c.3190G>A (p.Glu1064Lys) n.3559G>A | dbSNP |
13 | g.32337914G>C | CA387777268 | BRCA2 | c.3559G>C (p.Glu1187Gln) c.3190G>C (p.Glu1064Gln) n.3559G>C | dbSNP |