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.32337239_32337498delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT | CA2082812358 | BRCA2 | c.2884_3143delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT (p.His962=) c.2515_2774delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT (p.His839=) n.2884_3143delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT | |
13 | g.32337241_32337499del | CA1139663129 | BRCA2 | c.2886_3144del (p.His962GlnfsTer6) c.2517_2775del (p.His839GlnfsTer6) n.2886_3144del | ClinVar dbSNP |
13 | g.32337466_32337512del | CA2695218181 | BRCA2 | c.3111_3157del (p.Gln1037HisfsTer3) c.2742_2788del (p.Gln914HisfsTer3) n.3111_3157del | |
13 | g.32337470C>A | CA387775454 | BRCA2 | c.3115C>A (p.Pro1039Thr) c.2746C>A (p.Pro916Thr) n.3115C>A | dbSNP |
13 | g.32337470C>G | CA387775456 | BRCA2 | c.3115C>G (p.Pro1039Ala) c.2746C>G (p.Pro916Ala) n.3115C>G | dbSNP |
13 | g.32337470C>T | CA387775458 | BRCA2 | c.3115C>T (p.Pro1039Ser) c.2746C>T (p.Pro916Ser) n.3115C>T | ClinVar dbSNP COSMIC COSMIC |
13 | g.32337470_32337473delinsCCTA | CA2082814520 | BRCA2 | c.3115_3118delinsCCTA (p.Pro1039=) c.2746_2749delinsCCTA (p.Pro916=) n.3115_3118delinsCCTA | |
13 | g.32337471C>A | CA387775463 | BRCA2 | c.3116C>A (p.Pro1039His) c.2747C>A (p.Pro916His) n.3116C>A | ClinVar dbSNP |
13 | g.32337471C= | CA2082814532 | BRCA2 | c.3116C= (p.Pro1039=) c.2747C= (p.Pro916=) n.3116C= | |
13 | g.32337471C>G | CA387775467 | BRCA2 | c.3116C>G (p.Pro1039Arg) c.2747C>G (p.Pro916Arg) n.3116C>G | dbSNP |
13 | g.32337471C>T | CA247503749 | BRCA2 | c.3116C>T (p.Pro1039Leu) c.2747C>T (p.Pro916Leu) n.3116C>T | ClinVar dbSNP |
13 | g.32337474_32337476del | CA16619685 | BRCA2 | c.3119_3121del (p.Thr1040del) c.2750_2752del (p.Thr917del) n.3119_3121del | ClinVar dbSNP gnomAD v4 |
13 | g.32337472T>A | CA483437585 | BRCA2 | c.3117T>A (p.Pro1039=) c.2748T>A (p.Pro916=) n.3117T>A | dbSNP |
13 | g.32337472T>C | CA483437584 | BRCA2 | c.3117T>C (p.Pro1039=) c.2748T>C (p.Pro916=) n.3117T>C | ClinVar dbSNP |
13 | g.32337472T>G | CA483437583 | BRCA2 | c.3117T>G (p.Pro1039=) c.2748T>G (p.Pro916=) n.3117T>G | |
13 | g.32337473A>C | CA387775469 | BRCA2 | c.3118A>C (p.Thr1040Pro) c.2749A>C (p.Thr917Pro) n.3118A>C | |
13 | g.32337473A>G | CA387775473 | BRCA2 | c.3118A>G (p.Thr1040Ala) c.2749A>G (p.Thr917Ala) n.3118A>G | ClinVar dbSNP |
13 | g.32337473A>T | CA387775471 | BRCA2 | c.3118A>T (p.Thr1040Ser) c.2749A>T (p.Thr917Ser) n.3118A>T | dbSNP |
13 | g.32337474del | CA2499222124 | BRCA2 | c.3119del (p.Thr1040IlefsTer3) c.2750del (p.Thr917IlefsTer3) n.3119del | ClinVar dbSNP |
13 | g.32337474C>A | CA387775477 | BRCA2 | c.3119C>A (p.Thr1040Asn) c.2750C>A (p.Thr917Asn) n.3119C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337474C= | CA2082814549 | BRCA2 | c.3119C= (p.Thr1040=) c.2750C= (p.Thr917=) n.3119C= | |
13 | g.32337474C>G | CA387775479 | BRCA2 | c.3119C>G (p.Thr1040Ser) c.2750C>G (p.Thr917Ser) n.3119C>G | dbSNP |
13 | g.32337474C>T | CA017265 | BRCA2 | c.3119C>T (p.Thr1040Ile) c.2750C>T (p.Thr917Ile) n.3119C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337475T>A | CA6940669 | BRCA2 | c.3120T>A (p.Thr1040=) c.2751T>A (p.Thr917=) n.3120T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337475T>C | CA483437332 | BRCA2 | c.3120T>C (p.Thr1040=) c.2751T>C (p.Thr917=) n.3120T>C | |
13 | g.32337475T>G | CA483437333 | BRCA2 | c.3120T>G (p.Thr1040=) c.2751T>G (p.Thr917=) n.3120T>G | |
13 | g.32337475T= | CA2082814560 | BRCA2 | c.3120T= (p.Thr1040=) c.2751T= (p.Thr917=) n.3120T= | |
13 | g.32337476A= | CA2082814569 | BRCA2 | c.3121A= (p.Ser1041=) c.2752A= (p.Ser918=) n.3121A= | |
13 | g.32337476A>C | CA387775706 | BRCA2 | c.3121A>C (p.Ser1041Arg) c.2752A>C (p.Ser918Arg) n.3121A>C | |
13 | g.32337476A>G | CA10579565 | BRCA2 | c.3121A>G (p.Ser1041Gly) c.2752A>G (p.Ser918Gly) n.3121A>G | ClinVar dbSNP |
13 | g.32337476A>T | CA387775707 | BRCA2 | c.3121A>T (p.Ser1041Cys) c.2752A>T (p.Ser918Cys) n.3121A>T | dbSNP |
13 | g.32337477G>A | CA017273 | BRCA2 | c.3122G>A (p.Ser1041Asn) c.2753G>A (p.Ser918Asn) n.3122G>A | ClinVar dbSNP |
13 | g.32337477G>C | CA16613866 | BRCA2 | c.3122G>C (p.Ser1041Thr) c.2753G>C (p.Ser918Thr) n.3122G>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337477G= | CA2082814581 | BRCA2 | c.3122G= (p.Ser1041=) c.2753G= (p.Ser918=) n.3122G= | |
13 | g.32337477G>T | CA387775708 | BRCA2 | c.3122G>T (p.Ser1041Ile) c.2753G>T (p.Ser918Ile) n.3122G>T | |
13 | g.32337478T>A | CA387775709 | BRCA2 | c.3123T>A (p.Ser1041Arg) c.2754T>A (p.Ser918Arg) n.3123T>A | dbSNP |
13 | g.32337478T>C | CA483437336 | BRCA2 | c.3123T>C (p.Ser1041=) c.2754T>C (p.Ser918=) n.3123T>C | |
13 | g.32337478T>G | CA387775710 | BRCA2 | c.3123T>G (p.Ser1041Arg) c.2754T>G (p.Ser918Arg) n.3123T>G | dbSNP |
13 | g.32337480dup | CA2573149278 | BRCA2 | c.3125dup (p.Leu1042PhefsTer5) c.2756dup (p.Leu919PhefsTer5) n.3125dup | ClinVar dbSNP |
13 | g.32337479_32337480del | CA2573149277 | BRCA2 | c.3124_3125del (p.Leu1042SerfsTer4) c.2755_2756del (p.Leu919SerfsTer4) n.3124_3125del | ClinVar dbSNP |
13 | g.32337479T>A | CA387775711 | BRCA2 | c.3124T>A (p.Leu1042Ile) c.2755T>A (p.Leu919Ile) n.3124T>A | dbSNP |
13 | g.32337479T>C | CA483437337 | BRCA2 | c.3124T>C (p.Leu1042=) c.2755T>C (p.Leu919=) n.3124T>C | dbSNP |
13 | g.32337479T>G | CA387775712 | BRCA2 | c.3124T>G (p.Leu1042Val) c.2755T>G (p.Leu919Val) n.3124T>G | |
13 | g.32337480T>A | CA387775715 | BRCA2 | c.3125T>A (p.Leu1042Ter) c.2756T>A (p.Leu919Ter) n.3125T>A | ClinVar dbSNP |
13 | g.32337480T>C | CA387775714 | BRCA2 | c.3125T>C (p.Leu1042Ser) c.2756T>C (p.Leu919Ser) n.3125T>C | ClinVar dbSNP |
13 | g.32337480T>G | CA387775713 | BRCA2 | c.3125T>G (p.Leu1042Ter) c.2756T>G (p.Leu919Ter) n.3125T>G | ClinVar |
13 | g.32337480T= | CA2082814588 | BRCA2 | c.3125T= (p.Leu1042=) c.2756T= (p.Leu919=) n.3125T= | |
13 | g.32337481A= | CA2082814594 | BRCA2 | c.3126A= (p.Leu1042=) c.2757A= (p.Leu919=) n.3126A= | |
13 | g.32337481A>C | CA387775716 | BRCA2 | c.3126A>C (p.Leu1042Phe) c.2757A>C (p.Leu919Phe) n.3126A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |