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.32337604_32337608delinsTAGTC | CA2082815540 | BRCA2 | c.3249_3253delinsTAGTC (p.Asn1083=) c.2880_2884delinsTAGTC (p.Asn960=) n.3249_3253delinsTAGTC | |
13 | g.32337606_32337609del | CA1139663138 | BRCA2 | c.3251_3254del (p.Ser1084IlefsTer2) c.2882_2885del (p.Ser961IlefsTer2) n.3251_3254del | ClinVar dbSNP |
13 | g.32337606del | CA2697551758 | BRCA2 | c.3251del (p.Ser1084IlefsTer3) c.2882del (p.Ser961IlefsTer3) n.3251del | ClinVar |
13 | g.32337606G>A | CA6940684 | BRCA2 | c.3251G>A (p.Ser1084Asn) c.2882G>A (p.Ser961Asn) n.3251G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337606G>C | CA387775979 | BRCA2 | c.3251G>C (p.Ser1084Thr) c.2882G>C (p.Ser961Thr) n.3251G>C | dbSNP |
13 | g.32337606G= | CA2082815561 | BRCA2 | c.3251G= (p.Ser1084=) c.2882G= (p.Ser961=) n.3251G= | |
13 | g.32337606G>T | CA387775981 | BRCA2 | c.3251G>T (p.Ser1084Ile) c.2882G>T (p.Ser961Ile) n.3251G>T | dbSNP |
13 | g.32337607T>A | CA387775983 | BRCA2 | c.3252T>A (p.Ser1084Arg) c.2883T>A (p.Ser961Arg) n.3252T>A | dbSNP |
13 | g.32337607T>C | CA483437625 | BRCA2 | c.3252T>C (p.Ser1084=) c.2883T>C (p.Ser961=) n.3252T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337607T>G | CA16614266 | BRCA2 | c.3252T>G (p.Ser1084Arg) c.2883T>G (p.Ser961Arg) n.3252T>G | ClinVar dbSNP |
13 | g.32337607T= | CA2082815563 | BRCA2 | c.3252T= (p.Ser1084=) c.2883T= (p.Ser961=) n.3252T= | |
13 | g.32337608C>A | CA387775984 | BRCA2 | c.3253C>A (p.His1085Asn) c.2884C>A (p.His962Asn) n.3253C>A | dbSNP gnomAD v4 |
13 | g.32337608C>G | CA387775986 | BRCA2 | c.3253C>G (p.His1085Asp) c.2884C>G (p.His962Asp) n.3253C>G | dbSNP |
13 | g.32337608C>T | CA387775988 | BRCA2 | c.3253C>T (p.His1085Tyr) c.2884C>T (p.His962Tyr) n.3253C>T | ClinVar dbSNP |
13 | g.32337608_32337610delinsCAT | CA2082815569 | BRCA2 | c.3253_3255delinsCAT (p.His1085=) c.2884_2886delinsCAT (p.His962=) n.3253_3255delinsCAT | |
13 | g.32337609A= | CA2082815575 | BRCA2 | c.3254A= (p.His1085=) c.2885A= (p.His962=) n.3254A= | |
13 | g.32337609A>C | CA16613945 | BRCA2 | c.3254A>C (p.His1085Pro) c.2885A>C (p.His962Pro) n.3254A>C | ClinVar dbSNP |
13 | g.32337609A>G | CA017628 | BRCA2 | c.3254A>G (p.His1085Arg) c.2885A>G (p.His962Arg) n.3254A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337609A>T | CA387775990 | BRCA2 | c.3254A>T (p.His1085Leu) c.2885A>T (p.His962Leu) n.3254A>T | dbSNP |
13 | g.32337612_32337613del | CA10579568 | BRCA2 | c.3257_3258del (p.Ile1086AsnfsTer12) c.2888_2889del (p.Ile963AsnfsTer12) n.3257_3258del | ClinVar dbSNP |
13 | g.32337610T>A | CA387775993 | BRCA2 | c.3255T>A (p.His1085Gln) c.2886T>A (p.His962Gln) n.3255T>A | dbSNP |
13 | g.32337610T>C | CA483437627 | BRCA2 | c.3255T>C (p.His1085=) c.2886T>C (p.His962=) n.3255T>C | ClinVar dbSNP |
13 | g.32337610T>G | CA387775994 | BRCA2 | c.3255T>G (p.His1085Gln) c.2886T>G (p.His962Gln) n.3255T>G | |
13 | g.32337610T= | CA2082815583 | BRCA2 | c.3255T= (p.His1085=) c.2886T= (p.His962=) n.3255T= | |
13 | g.32337611A= | CA2082815591 | BRCA2 | c.3256A= (p.Ile1086=) c.2887A= (p.Ile963=) n.3256A= | |
13 | g.32337611A>C | CA387775998 | BRCA2 | c.3256A>C (p.Ile1086Leu) c.2887A>C (p.Ile963Leu) n.3256A>C | dbSNP |
13 | g.32337611A>G | CA017635 | BRCA2 | c.3256A>G (p.Ile1086Val) c.2887A>G (p.Ile963Val) n.3256A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337611A>T | CA387775996 | BRCA2 | c.3256A>T (p.Ile1086Leu) c.2887A>T (p.Ile963Leu) n.3256A>T | dbSNP |
13 | g.32337611dup | CA919242421 | BRCA2 | c.3256dup (p.Ile1086AsnfsTer13) c.2887dup (p.Ile963AsnfsTer13) n.3256dup | dbSNP gnomAD v4 |
13 | g.32337613_32337649del | CA2695218183 | BRCA2 | c.3258_3294del (p.Thr1087GlnfsTer5) c.2889_2925del (p.Thr964GlnfsTer5) n.3258_3294del | |
13 | g.32337612T>A | CA387775999 | BRCA2 | c.3257T>A (p.Ile1086Lys) c.2888T>A (p.Ile963Lys) n.3257T>A | |
13 | g.32337612T>C | CA387776001 | BRCA2 | c.3257T>C (p.Ile1086Thr) c.2888T>C (p.Ile963Thr) n.3257T>C | |
13 | g.32337612T>G | CA387776002 | BRCA2 | c.3257T>G (p.Ile1086Arg) c.2888T>G (p.Ile963Arg) n.3257T>G | |
13 | g.32337612T= | CA2082815594 | BRCA2 | c.3257T= (p.Ile1086=) c.2888T= (p.Ile963=) n.3257T= | |
13 | g.32337613A= | CA2082815602 | BRCA2 | c.3258A= (p.Ile1086=) c.2889A= (p.Ile963=) n.3258A= | |
13 | g.32337613A>C | CA483437631 | BRCA2 | c.3258A>C (p.Ile1086=) c.2889A>C (p.Ile963=) n.3258A>C | |
13 | g.32337613A>G | CA387776004 | BRCA2 | c.3258A>G (p.Ile1086Met) c.2889A>G (p.Ile963Met) n.3258A>G | |
13 | g.32337613A>T | CA483437632 | BRCA2 | c.3258A>T (p.Ile1086=) c.2889A>T (p.Ile963=) n.3258A>T | dbSNP |
13 | g.32337614dup | CA915948450 | BRCA2 | c.3259dup (p.Thr1087AsnfsTer12) c.2890dup (p.Thr964AsnfsTer12) n.3259dup | ClinVar dbSNP |
13 | g.32337614A= | CA2082815612 | BRCA2 | c.3259A= (p.Thr1087=) c.2890A= (p.Thr964=) n.3259A= | |
13 | g.32337614A>C | CA387776005 | BRCA2 | c.3259A>C (p.Thr1087Pro) c.2890A>C (p.Thr964Pro) n.3259A>C | dbSNP |
13 | g.32337614A>G | CA387776007 | BRCA2 | c.3259A>G (p.Thr1087Ala) c.2890A>G (p.Thr964Ala) n.3259A>G | ClinVar dbSNP |
13 | g.32337614A>T | CA6940685 | BRCA2 | c.3259A>T (p.Thr1087Ser) c.2890A>T (p.Thr964Ser) n.3259A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337614_32337616delinsACC | CA2082815610 | BRCA2 | c.3259_3261delinsACC (p.Thr1087=) c.2890_2892delinsACC (p.Thr964=) n.3259_3261delinsACC | |
13 | g.32337615C>A | CA387776009 | BRCA2 | c.3260C>A (p.Thr1087Asn) c.2891C>A (p.Thr964Asn) n.3260C>A | ClinVar dbSNP |
13 | g.32337615C= | CA2082815625 | BRCA2 | c.3260C= (p.Thr1087=) c.2891C= (p.Thr964=) n.3260C= | |
13 | g.32337615C>G | CA387776011 | BRCA2 | c.3260C>G (p.Thr1087Ser) c.2891C>G (p.Thr964Ser) n.3260C>G | dbSNP |
13 | g.32337615C>T | CA387776013 | BRCA2 | c.3260C>T (p.Thr1087Ile) c.2891C>T (p.Thr964Ile) n.3260C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337618dup | CA10589195 | BRCA2 | c.3263dup (p.Gln1089SerfsTer10) c.2894dup (p.Gln966SerfsTer10) n.3263dup | ClinVar dbSNP |