Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
13 | g.32340398_32341353del | CA2582073544 | BRCA2 | c.6043_6841+157del c.5674_6472+157del n.6043_6841+157del | |
13 | g.32340816_32340828del | CA2580087913 | BRCA2 | c.6461_6473del (p.Tyr2154PhefsTer10) c.6092_6104del (p.Tyr2031PhefsTer10) n.6461_6473del | ClinVar |
13 | g.32340823_32340824dup | CA609453795 | BRCA2 | c.6468_6469dup (p.Gln2157LeufsTer12) c.6099_6100dup (p.Gln2034LeufsTer12) n.6468_6469dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340823_32340824del | CA024079 | BRCA2 | c.6468_6469del (p.Gln2157IlefsTer18) c.6099_6100del (p.Gln2034IlefsTer18) n.6468_6469del | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32340821_32340824del | CA6940957 | BRCA2 | c.6466_6469del (p.Ser2156AsnfsTer11) c.6097_6100del (p.Ser2033AsnfsTer11) n.6466_6469del | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.32340823T>A | CA483439032 | BRCA2 | c.6468T>A (p.Ser2156=) c.6099T>A (p.Ser2033=) n.6468T>A | dbSNP |
13 | g.32340823T>C | CA483439033 | BRCA2 | c.6468T>C (p.Ser2156=) c.6099T>C (p.Ser2033=) n.6468T>C | dbSNP |
13 | g.32340823T>G | CA483439034 | BRCA2 | c.6468T>G (p.Ser2156=) c.6099T>G (p.Ser2033=) n.6468T>G | |
13 | g.32340823dup | CA2580087914 | BRCA2 | c.6468dup (p.Gln2157SerfsTer19) c.6099dup (p.Gln2034SerfsTer19) n.6468dup | ClinVar |
13 | g.32340824C>A | CA387789390 | BRCA2 | c.6469C>A (p.Gln2157Lys) c.6100C>A (p.Gln2034Lys) n.6469C>A | dbSNP |
13 | g.32340824C= | CA2082814956 | BRCA2 | c.6469C= (p.Gln2157=) c.6100C= (p.Gln2034=) n.6469C= | |
13 | g.32340824C>G | CA10579698 | BRCA2 | c.6469C>G (p.Gln2157Glu) c.6100C>G (p.Gln2034Glu) n.6469C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340824C>T | CA024090 | BRCA2 | c.6469C>T (p.Gln2157Ter) c.6100C>T (p.Gln2034Ter) n.6469C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32340825A= | CA2082814966 | BRCA2 | c.6470A= (p.Gln2157=) c.6101A= (p.Gln2034=) n.6470A= | |
13 | g.32340825A>C | CA387789392 | BRCA2 | c.6470A>C (p.Gln2157Pro) c.6101A>C (p.Gln2034Pro) n.6470A>C | |
13 | g.32340825A>G | CA387789394 | BRCA2 | c.6470A>G (p.Gln2157Arg) c.6101A>G (p.Gln2034Arg) n.6470A>G | ClinVar dbSNP |
13 | g.32340825A>T | CA387789396 | BRCA2 | c.6470A>T (p.Gln2157Leu) c.6101A>T (p.Gln2034Leu) n.6470A>T | dbSNP |
13 | g.32340826A= | CA2082814978 | BRCA2 | c.6471A= (p.Gln2157=) c.6102A= (p.Gln2034=) n.6471A= | |
13 | g.32340826A>C | CA387789398 | BRCA2 | c.6471A>C (p.Gln2157His) c.6102A>C (p.Gln2034His) n.6471A>C | |
13 | g.32340826A>G | CA6940958 | BRCA2 | c.6471A>G (p.Gln2157=) c.6102A>G (p.Gln2034=) n.6471A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340826A>T | CA387789400 | BRCA2 | c.6471A>T (p.Gln2157His) c.6102A>T (p.Gln2034His) n.6471A>T | |
13 | g.32340827T>A | CA387789406 | BRCA2 | c.6472T>A (p.Phe2158Ile) c.6103T>A (p.Phe2035Ile) n.6472T>A | dbSNP |
13 | g.32340827T>C | CA387789402 | BRCA2 | c.6472T>C (p.Phe2158Leu) c.6103T>C (p.Phe2035Leu) n.6472T>C | ClinVar dbSNP |
13 | g.32340827T>G | CA387789404 | BRCA2 | c.6472T>G (p.Phe2158Val) c.6103T>G (p.Phe2035Val) n.6472T>G | |
13 | g.32340827T= | CA2082814992 | BRCA2 | c.6472T= (p.Phe2158=) c.6103T= (p.Phe2035=) n.6472T= | |
13 | g.32340829dup | CA645509068 | BRCA2 | c.6474dup (p.Gln2159SerfsTer17) c.6105dup (p.Gln2036SerfsTer17) n.6474dup | ClinVar dbSNP |
13 | g.32340829del | CA2499222240 | BRCA2 | c.6474del (p.Gln2159AsnfsTer9) c.6105del (p.Gln2036AsnfsTer9) n.6474del | |
13 | g.32340828T>A | CA387789408 | BRCA2 | c.6473T>A (p.Phe2158Tyr) c.6104T>A (p.Phe2035Tyr) n.6473T>A | dbSNP |
13 | g.32340828T>C | CA387789410 | BRCA2 | c.6473T>C (p.Phe2158Ser) c.6104T>C (p.Phe2035Ser) n.6473T>C | dbSNP |
13 | g.32340828T>G | CA387789412 | BRCA2 | c.6473T>G (p.Phe2158Cys) c.6104T>G (p.Phe2035Cys) n.6473T>G | COSMIC COSMIC |
13 | g.32340829T>A | CA387789414 | BRCA2 | c.6474T>A (p.Phe2158Leu) c.6105T>A (p.Phe2035Leu) n.6474T>A | dbSNP |
13 | g.32340829T>C | CA483439042 | BRCA2 | c.6474T>C (p.Phe2158=) c.6105T>C (p.Phe2035=) n.6474T>C | ClinVar gnomAD v4 |
13 | g.32340829T>G | CA387789416 | BRCA2 | c.6474T>G (p.Phe2158Leu) c.6105T>G (p.Phe2035Leu) n.6474T>G | |
13 | g.32340830C>A | CA387789417 | BRCA2 | c.6475C>A (p.Gln2159Lys) c.6106C>A (p.Gln2036Lys) n.6475C>A | |
13 | g.32340830C= | CA2082815005 | BRCA2 | c.6475C= (p.Gln2159=) c.6106C= (p.Gln2036=) n.6475C= | |
13 | g.32340830C>G | CA024092 | BRCA2 | c.6475C>G (p.Gln2159Glu) c.6106C>G (p.Gln2036Glu) n.6475C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32340830C>T | CA024094 | BRCA2 | c.6475C>T (p.Gln2159Ter) c.6106C>T (p.Gln2036Ter) n.6475C>T | ClinVar dbSNP COSMIC COSMIC |
13 | g.32340833_32340835del | CA2622599967 | BRCA2 | c.6478_6480del (p.Gln2160del) c.6109_6111del (p.Gln2037del) n.6478_6480del | gnomAD v4 |
13 | g.32340831A= | CA2082815015 | BRCA2 | c.6476A= (p.Gln2159=) c.6107A= (p.Gln2036=) n.6476A= | |
13 | g.32340831A>C | CA6940959 | BRCA2 | c.6476A>C (p.Gln2159Pro) c.6107A>C (p.Gln2036Pro) n.6476A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340831A>G | CA16614195 | BRCA2 | c.6476A>G (p.Gln2159Arg) c.6107A>G (p.Gln2036Arg) n.6476A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340831A>T | CA387789422 | BRCA2 | c.6476A>T (p.Gln2159Leu) c.6107A>T (p.Gln2036Leu) n.6476A>T | dbSNP |
13 | g.32340836_32340844del | CA2580087916 | BRCA2 | c.6481_6489del (p.Asp2161_Gln2163del) c.6112_6120del (p.Asp2038_Gln2040del) n.6481_6489del | ClinVar |
13 | g.32340832A= | CA2082815023 | BRCA2 | c.6477A= (p.Gln2159=) c.6108A= (p.Gln2036=) n.6477A= | |
13 | g.32340832A>C | CA387789424 | BRCA2 | c.6477A>C (p.Gln2159His) c.6108A>C (p.Gln2036His) n.6477A>C | ClinVar dbSNP |
13 | g.32340832A>G | CA483439047 | BRCA2 | c.6477A>G (p.Gln2159=) c.6108A>G (p.Gln2036=) n.6477A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340832A>T | CA387789426 | BRCA2 | c.6477A>T (p.Gln2159His) c.6108A>T (p.Gln2036His) n.6477A>T | dbSNP |
13 | g.32340833C>A | CA387789428 | BRCA2 | c.6478C>A (p.Gln2160Lys) c.6109C>A (p.Gln2037Lys) n.6478C>A | dbSNP gnomAD v4 |
13 | g.32340833C= | CA2082815030 | BRCA2 | c.6478C= (p.Gln2160=) c.6109C= (p.Gln2037=) n.6478C= |