| 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.32337587_32337589del | CA16619692 | BRCA2 | c.3232_3234del (p.Val1078del) c.2863_2865del (p.Val955del) n.3232_3234del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337587_32337588delinsGT | CA2082815423 | BRCA2 | c.3232_3233delinsGT (p.Val1078=) c.2863_2864delinsGT (p.Val955=) n.3232_3233delinsGT | |
| 13 | g.32337588T>A | CA387775927 | BRCA2 | c.3233T>A (p.Val1078Asp) c.2864T>A (p.Val955Asp) n.3233T>A | dbSNP |
| 13 | g.32337588T>C | CA387775928 | BRCA2 | c.3233T>C (p.Val1078Ala) c.2864T>C (p.Val955Ala) n.3233T>C | ClinVar dbSNP |
| 13 | g.32337588T>G | CA387775929 | BRCA2 | c.3233T>G (p.Val1078Gly) c.2864T>G (p.Val955Gly) n.3233T>G | ClinVar dbSNP |
| 13 | g.32337588T= | CA2082815430 | BRCA2 | c.3233T= (p.Val1078=) c.2864T= (p.Val955=) n.3233T= | |
| 13 | g.32337590dup | CA913190907 | BRCA2 | c.3235dup (p.Ser1079PhefsTer2) c.2866dup (p.Ser956PhefsTer2) n.3235dup | ClinVar dbSNP |
| 13 | g.32337590del | CA017602 | BRCA2 | c.3235del (p.Ser1079LeufsTer8) c.2866del (p.Ser956LeufsTer8) n.3235del | ClinVar dbSNP |
| 13 | g.32337589T>A | CA483437572 | BRCA2 | c.3234T>A (p.Val1078=) c.2865T>A (p.Val955=) n.3234T>A | ClinVar dbSNP |
| 13 | g.32337589T>C | CA483437573 | BRCA2 | c.3234T>C (p.Val1078=) c.2865T>C (p.Val955=) n.3234T>C | ClinVar dbSNP |
| 13 | g.32337589T>G | CA483437575 | BRCA2 | c.3234T>G (p.Val1078=) c.2865T>G (p.Val955=) n.3234T>G | dbSNP |
| 13 | g.32337590T>A | CA387775930 | BRCA2 | c.3235T>A (p.Ser1079Thr) c.2866T>A (p.Ser956Thr) n.3235T>A | gnomAD v4 |
| 13 | g.32337590T>C | CA387775931 | BRCA2 | c.3235T>C (p.Ser1079Pro) c.2866T>C (p.Ser956Pro) n.3235T>C | |
| 13 | g.32337590T>G | CA387775932 | BRCA2 | c.3235T>G (p.Ser1079Ala) c.2866T>G (p.Ser956Ala) n.3235T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337590T= | CA2082815435 | BRCA2 | c.3235T= (p.Ser1079=) c.2866T= (p.Ser956=) n.3235T= | |
| 13 | g.32337591C>A | CA387775933 | BRCA2 | c.3236C>A (p.Ser1079Tyr) c.2867C>A (p.Ser956Tyr) n.3236C>A | ClinVar dbSNP |
| 13 | g.32337591C= | CA2082815443 | BRCA2 | c.3236C= (p.Ser1079=) c.2867C= (p.Ser956=) n.3236C= | |
| 13 | g.32337591C>G | CA387775934 | BRCA2 | c.3236C>G (p.Ser1079Cys) c.2867C>G (p.Ser956Cys) n.3236C>G | dbSNP |
| 13 | g.32337591C>T | CA387775935 | BRCA2 | c.3236C>T (p.Ser1079Phe) c.2867C>T (p.Ser956Phe) n.3236C>T | ClinVar dbSNP |
| 13 | g.32337592T>A | CA483437576 | BRCA2 | c.3237T>A (p.Ser1079=) c.2868T>A (p.Ser956=) n.3237T>A | dbSNP |
| 13 | g.32337592T>C | CA483437579 | BRCA2 | c.3237T>C (p.Ser1079=) c.2868T>C (p.Ser956=) n.3237T>C | dbSNP |
| 13 | g.32337592T>G | CA483437577 | BRCA2 | c.3237T>G (p.Ser1079=) c.2868T>G (p.Ser956=) n.3237T>G | |
| 13 | g.32337593G>A | CA387775937 | BRCA2 | c.3238G>A (p.Asp1080Asn) c.2869G>A (p.Asp957Asn) n.3238G>A | dbSNP |
| 13 | g.32337593G>C | CA16619693 | BRCA2 | c.3238G>C (p.Asp1080His) c.2869G>C (p.Asp957His) n.3238G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337593G= | CA2082815456 | BRCA2 | c.3238G= (p.Asp1080=) c.2869G= (p.Asp957=) n.3238G= | |
| 13 | g.32337593G>T | CA387775936 | BRCA2 | c.3238G>T (p.Asp1080Tyr) c.2869G>T (p.Asp957Tyr) n.3238G>T | COSMIC COSMIC |
| 13 | g.32337594A= | CA2082815464 | BRCA2 | c.3239A= (p.Asp1080=) c.2870A= (p.Asp957=) n.3239A= | |
| 13 | g.32337594A>C | CA387775938 | BRCA2 | c.3239A>C (p.Asp1080Ala) c.2870A>C (p.Asp957Ala) n.3239A>C | |
| 13 | g.32337594A>G | CA387775939 | BRCA2 | c.3239A>G (p.Asp1080Gly) c.2870A>G (p.Asp957Gly) n.3239A>G | dbSNP |
| 13 | g.32337594A>T | CA387775940 | BRCA2 | c.3239A>T (p.Asp1080Val) c.2870A>T (p.Asp957Val) n.3239A>T | ClinVar dbSNP |
| 13 | g.32337594_32337595delinsAT | CA2082815463 | BRCA2 | c.3239_3240delinsAT (p.Asp1080=) c.2870_2871delinsAT (p.Asp957=) n.3239_3240delinsAT | |
| 13 | g.32337595T>A | CA387775941 | BRCA2 | c.3240T>A (p.Asp1080Glu) c.2871T>A (p.Asp957Glu) n.3240T>A | dbSNP |
| 13 | g.32337595T>C | CA483437580 | BRCA2 | c.3240T>C (p.Asp1080=) c.2871T>C (p.Asp957=) n.3240T>C | dbSNP |
| 13 | g.32337595T>G | CA387775942 | BRCA2 | c.3240T>G (p.Asp1080Glu) c.2871T>G (p.Asp957Glu) n.3240T>G | dbSNP |
| 13 | g.32337595T= | CA2082815471 | BRCA2 | c.3240T= (p.Asp1080=) c.2871T= (p.Asp957=) n.3240T= | |
| 13 | g.32337596del | CA915948449 | BRCA2 | c.3241del (p.Cys1081ValfsTer6) c.2872del (p.Cys958ValfsTer6) n.3241del | ClinVar dbSNP |
| 13 | g.32337596T>A | CA387775945 | BRCA2 | c.3241T>A (p.Cys1081Ser) c.2872T>A (p.Cys958Ser) n.3241T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337596T>C | CA387775943 | BRCA2 | c.3241T>C (p.Cys1081Arg) c.2872T>C (p.Cys958Arg) n.3241T>C | ClinVar dbSNP |
| 13 | g.32337596T>G | CA387775944 | BRCA2 | c.3241T>G (p.Cys1081Gly) c.2872T>G (p.Cys958Gly) n.3241T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337596T= | CA2082815480 | BRCA2 | c.3241T= (p.Cys1081=) c.2872T= (p.Cys958=) n.3241T= | |
| 13 | g.32337597G>A | CA16619694 | BRCA2 | c.3242G>A (p.Cys1081Tyr) c.2873G>A (p.Cys958Tyr) n.3242G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337597G>C | CA387775946 | BRCA2 | c.3242G>C (p.Cys1081Ser) c.2873G>C (p.Cys958Ser) n.3242G>C | dbSNP |
| 13 | g.32337597G= | CA2082815493 | BRCA2 | c.3242G= (p.Cys1081=) c.2873G= (p.Cys958=) n.3242G= | |
| 13 | g.32337597G>T | CA6940680 | BRCA2 | c.3242G>T (p.Cys1081Phe) c.2873G>T (p.Cys958Phe) n.3242G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337598T>A | CA387775947 | BRCA2 | c.3243T>A (p.Cys1081Ter) c.2874T>A (p.Cys958Ter) n.3243T>A | |
| 13 | g.32337598T>C | CA483437581 | BRCA2 | c.3243T>C (p.Cys1081=) c.2874T>C (p.Cys958=) n.3243T>C | |
| 13 | g.32337598T>G | CA387775948 | BRCA2 | c.3243T>G (p.Cys1081Trp) c.2874T>G (p.Cys958Trp) n.3243T>G |