| 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.32337556_32337600delinsTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA | CA2082815219 | BRCA2 | c.3201_3245delinsTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA (p.Thr1067=) c.2832_2876delinsTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA (p.Thr944=) n.3201_3245delinsTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA | |
| 13 | g.32337557_32337600del | CA913190906 | BRCA2 | c.3202_3245del (p.Val1068LysfsTer2) c.2833_2876del (p.Val945LysfsTer2) n.3202_3245del | ClinVar dbSNP |
| 13 | g.32337598_32337599delinsTA | CA2082815499 | BRCA2 | c.3243_3244delinsTA (p.Cys1081=) c.2874_2875delinsTA (p.Cys958=) n.3243_3244delinsTA | |
| 13 | g.32337599A= | CA2082815510 | BRCA2 | c.3244A= (p.Lys1082=) c.2875A= (p.Lys959=) n.3244A= | |
| 13 | g.32337599A>C | CA387775949 | BRCA2 | c.3244A>C (p.Lys1082Gln) c.2875A>C (p.Lys959Gln) n.3244A>C | |
| 13 | g.32337599A>G | CA387775951 | BRCA2 | c.3244A>G (p.Lys1082Glu) c.2875A>G (p.Lys959Glu) n.3244A>G | gnomAD v4 |
| 13 | g.32337599A>T | CA10589192 | BRCA2 | c.3244A>T (p.Lys1082Ter) c.2875A>T (p.Lys959Ter) n.3244A>T | ClinVar dbSNP |
| 13 | g.32337603dup | CA10589194 | BRCA2 | c.3248dup (p.Asn1083LysfsTer2) c.2879dup (p.Asn960LysfsTer2) n.3248dup | ClinVar dbSNP |
| 13 | g.32337603del | CA10589193 | BRCA2 | c.3248del (p.Asn1083IlefsTer4) c.2879del (p.Asn960IlefsTer4) n.3248del | ClinVar dbSNP |
| 13 | g.32337600A= | CA2082815522 | BRCA2 | c.3245A= (p.Lys1082=) c.2876A= (p.Lys959=) n.3245A= | |
| 13 | g.32337600A>C | CA387775954 | BRCA2 | c.3245A>C (p.Lys1082Thr) c.2876A>C (p.Lys959Thr) n.3245A>C | |
| 13 | g.32337600A>G | CA017616 | BRCA2 | c.3245A>G (p.Lys1082Arg) c.2876A>G (p.Lys959Arg) n.3245A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337600A>T | CA387775957 | BRCA2 | c.3245A>T (p.Lys1082Ile) c.2876A>T (p.Lys959Ile) n.3245A>T | dbSNP |
| 13 | g.32337601A>C | CA387775959 | BRCA2 | c.3246A>C (p.Lys1082Asn) c.2877A>C (p.Lys959Asn) n.3246A>C | |
| 13 | g.32337601A>G | CA483437586 | BRCA2 | c.3246A>G (p.Lys1082=) c.2877A>G (p.Lys959=) n.3246A>G | ClinVar dbSNP |
| 13 | g.32337601A>T | CA387775960 | BRCA2 | c.3246A>T (p.Lys1082Asn) c.2877A>T (p.Lys959Asn) n.3246A>T | dbSNP |
| 13 | g.32337602A= | CA2082815526 | BRCA2 | c.3247A= (p.Asn1083=) c.2878A= (p.Asn960=) n.3247A= | |
| 13 | g.32337602A>C | CA6940681 | BRCA2 | c.3247A>C (p.Asn1083His) c.2878A>C (p.Asn960His) n.3247A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337602A>G | CA387775963 | BRCA2 | c.3247A>G (p.Asn1083Asp) c.2878A>G (p.Asn960Asp) n.3247A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337602A>T | CA387775964 | BRCA2 | c.3247A>T (p.Asn1083Tyr) c.2878A>T (p.Asn960Tyr) n.3247A>T | dbSNP |
| 13 | g.32337603A= | CA2082815534 | BRCA2 | c.3248A= (p.Asn1083=) c.2879A= (p.Asn960=) n.3248A= | |
| 13 | g.32337603A>C | CA387775966 | BRCA2 | c.3248A>C (p.Asn1083Thr) c.2879A>C (p.Asn960Thr) n.3248A>C | |
| 13 | g.32337603A>G | CA6940682 | BRCA2 | c.3248A>G (p.Asn1083Ser) c.2879A>G (p.Asn960Ser) n.3248A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337603A>T | CA387775968 | BRCA2 | c.3248A>T (p.Asn1083Ile) c.2879A>T (p.Asn960Ile) n.3248A>T | dbSNP |
| 13 | g.32337604T>A | CA387775970 | BRCA2 | c.3249T>A (p.Asn1083Lys) c.2880T>A (p.Asn960Lys) n.3249T>A | dbSNP |
| 13 | g.32337604T>C | CA10579567 | BRCA2 | c.3249T>C (p.Asn1083=) c.2880T>C (p.Asn960=) n.3249T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337604T>G | CA387775972 | BRCA2 | c.3249T>G (p.Asn1083Lys) c.2880T>G (p.Asn960Lys) n.3249T>G | |
| 13 | g.32337604T= | CA2082815539 | BRCA2 | c.3249T= (p.Asn1083=) c.2880T= (p.Asn960=) n.3249T= | |
| 13 | g.32337604_32337608delinsTAGTC | CA2082815540 | BRCA2 | c.3249_3253delinsTAGTC (p.Asn1083=) c.2880_2884delinsTAGTC (p.Asn960=) n.3249_3253delinsTAGTC | |
| 13 | g.32337605A= | CA2082815548 | BRCA2 | c.3250A= (p.Ser1084=) c.2881A= (p.Ser961=) n.3250A= | |
| 13 | g.32337605A>C | CA387775974 | BRCA2 | c.3250A>C (p.Ser1084Arg) c.2881A>C (p.Ser961Arg) n.3250A>C | |
| 13 | g.32337605A>G | CA6940683 | BRCA2 | c.3250A>G (p.Ser1084Gly) c.2881A>G (p.Ser961Gly) n.3250A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337605A>T | CA387775976 | BRCA2 | c.3250A>T (p.Ser1084Cys) c.2881A>T (p.Ser961Cys) n.3250A>T | ClinVar dbSNP |
| 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 |