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.32337581_32337585del | CA017580 | BRCA2 | c.3226_3230del (p.Val1076CysfsTer3) c.2857_2861del (p.Val953CysfsTer3) n.3226_3230del | ClinVar dbSNP |
13 | g.32337582_32337584delinsTAG | CA2082815398 | BRCA2 | c.3227_3229delinsTAG (p.Val1076=) c.2858_2860delinsTAG (p.Val953=) n.3227_3229delinsTAG | |
13 | g.32337583A= | CA2082815411 | BRCA2 | c.3228A= (p.Val1076=) c.2859A= (p.Val953=) n.3228A= | |
13 | g.32337583A>C | CA483437558 | BRCA2 | c.3228A>C (p.Val1076=) c.2859A>C (p.Val953=) n.3228A>C | |
13 | g.32337583A>G | CA483437559 | BRCA2 | c.3228A>G (p.Val1076=) c.2859A>G (p.Val953=) n.3228A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337583A>T | CA483437560 | BRCA2 | c.3228A>T (p.Val1076=) c.2859A>T (p.Val953=) n.3228A>T | dbSNP |
13 | g.32337583_32337584del | CA017590 | BRCA2 | c.3228_3229del (p.Val1077CysfsTer3) c.2859_2860del (p.Val954CysfsTer3) n.3228_3229del | ClinVar dbSNP |
13 | g.32337583_32337586delinsAGTT | CA2082815413 | BRCA2 | c.3228_3231delinsAGTT (p.Val1076=) c.2859_2862delinsAGTT (p.Val953=) n.3228_3231delinsAGTT | |
13 | g.32337584G>A | CA387775918 | BRCA2 | c.3229G>A (p.Val1077Ile) c.2860G>A (p.Val954Ile) n.3229G>A | |
13 | g.32337584G>C | CA387775919 | BRCA2 | c.3229G>C (p.Val1077Leu) c.2860G>C (p.Val954Leu) n.3229G>C | ClinVar dbSNP |
13 | g.32337584G>T | CA387775920 | BRCA2 | c.3229G>T (p.Val1077Phe) c.2860G>T (p.Val954Phe) n.3229G>T | |
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.32337585T>A | CA387775923 | BRCA2 | c.3230T>A (p.Val1077Asp) c.2861T>A (p.Val954Asp) n.3230T>A | dbSNP |
13 | g.32337585T>C | CA387775922 | BRCA2 | c.3230T>C (p.Val1077Ala) c.2861T>C (p.Val954Ala) n.3230T>C | dbSNP |
13 | g.32337585T>G | CA387775921 | BRCA2 | c.3230T>G (p.Val1077Gly) c.2861T>G (p.Val954Gly) n.3230T>G | |
13 | g.32337585_32337586insAGTAG | CA2580087058 | BRCA2 | c.3230_3231insAGTAG (p.Ser1079ValfsTer10) c.2861_2862insAGTAG (p.Ser956ValfsTer10) n.3230_3231insAGTAG | ClinVar |
13 | g.32337586T>A | CA483437565 | BRCA2 | c.3231T>A (p.Val1077=) c.2862T>A (p.Val954=) n.3231T>A | dbSNP |
13 | g.32337586T>C | CA483437566 | BRCA2 | c.3231T>C (p.Val1077=) c.2862T>C (p.Val954=) n.3231T>C | dbSNP |
13 | g.32337586T>G | CA483437567 | BRCA2 | c.3231T>G (p.Val1077=) c.2862T>G (p.Val954=) n.3231T>G | |
13 | g.32337587G>A | CA387775924 | BRCA2 | c.3232G>A (p.Val1078Ile) c.2863G>A (p.Val955Ile) n.3232G>A | ClinVar dbSNP COSMIC COSMIC |
13 | g.32337587G>C | CA387775925 | BRCA2 | c.3232G>C (p.Val1078Leu) c.2863G>C (p.Val955Leu) n.3232G>C | dbSNP |
13 | g.32337587G>T | CA387775926 | BRCA2 | c.3232G>T (p.Val1078Phe) c.2863G>T (p.Val955Phe) n.3232G>T | dbSNP |
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 |