| 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.32337240_32337469delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT | CA2082812369 | BRCA2 | c.2885_3114delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT (p.His962=) c.2516_2745delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT (p.His839=) n.2885_3114delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT | |
| 13 | g.32337241_32337499del | CA1139663129 | BRCA2 | c.2886_3144del (p.His962GlnfsTer6) c.2517_2775del (p.His839GlnfsTer6) n.2886_3144del | ClinVar dbSNP |
| 13 | g.32337241_32337469del | CA1139663130 | BRCA2 | c.2886_3114del (p.Ile963LeufsTer4) c.2517_2745del (p.Ile840LeufsTer4) n.2886_3114del | ClinVar dbSNP |
| 13 | g.32337435_32337462del | CA1139663135 | BRCA2 | c.3080_3107del (p.Ser1027AsnfsTer7) c.2711_2738del (p.Ser904AsnfsTer7) n.3080_3107del | ClinVar dbSNP |
| 13 | g.32337450_32337465delinsAAGATATTGAAGAACA | CA2082814359 | BRCA2 | c.3095_3110delinsAAGATATTGAAGAACA (p.Lys1032=) c.2726_2741delinsAAGATATTGAAGAACA (p.Lys909=) n.3095_3110delinsAAGATATTGAAGAACA | |
| 13 | g.32337451_32337465delinsT | CA017232 | BRCA2 | c.3096_3110delinsT (p.Lys1032AsnfsTer5) c.2727_2741delinsT (p.Lys909AsnfsTer5) n.3096_3110delinsT | ClinVar dbSNP |
| 13 | g.32337461_32337463del | CA891844450 | BRCA2 | c.3106_3108del (p.Glu1036del) c.2737_2739del (p.Glu913del) n.3106_3108del | dbSNP |
| 13 | g.32337461G>A | CA387775375 | BRCA2 | c.3106G>A (p.Glu1036Lys) c.2737G>A (p.Glu913Lys) n.3106G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32337461G>C | CA387775378 | BRCA2 | c.3106G>C (p.Glu1036Gln) c.2737G>C (p.Glu913Gln) n.3106G>C | ClinVar dbSNP |
| 13 | g.32337461G= | CA2082814447 | BRCA2 | c.3106G= (p.Glu1036=) c.2737G= (p.Glu913=) n.3106G= | |
| 13 | g.32337461G>T | CA16614263 | BRCA2 | c.3106G>T (p.Glu1036Ter) c.2737G>T (p.Glu913Ter) n.3106G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337462A= | CA2082814458 | BRCA2 | c.3107A= (p.Glu1036=) c.2738A= (p.Glu913=) n.3107A= | |
| 13 | g.32337462A>C | CA387775382 | BRCA2 | c.3107A>C (p.Glu1036Ala) c.2738A>C (p.Glu913Ala) n.3107A>C | |
| 13 | g.32337462A>G | CA387775383 | BRCA2 | c.3107A>G (p.Glu1036Gly) c.2738A>G (p.Glu913Gly) n.3107A>G | dbSNP |
| 13 | g.32337462A>T | CA387775387 | BRCA2 | c.3107A>T (p.Glu1036Val) c.2738A>T (p.Glu913Val) n.3107A>T | ClinVar dbSNP |
| 13 | g.32337463A>C | CA387775400 | BRCA2 | c.3108A>C (p.Glu1036Asp) c.2739A>C (p.Glu913Asp) n.3108A>C | dbSNP |
| 13 | g.32337463A>G | CA483437578 | BRCA2 | c.3108A>G (p.Glu1036=) c.2739A>G (p.Glu913=) n.3108A>G | dbSNP gnomAD v4 |
| 13 | g.32337463A>T | CA387775396 | BRCA2 | c.3108A>T (p.Glu1036Asp) c.2739A>T (p.Glu913Asp) n.3108A>T | dbSNP |
| 13 | g.32337464C>A | CA16619684 | BRCA2 | c.3109C>A (p.Gln1037Lys) c.2740C>A (p.Gln914Lys) n.3109C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337464C= | CA2082814470 | BRCA2 | c.3109C= (p.Gln1037=) c.2740C= (p.Gln914=) n.3109C= | |
| 13 | g.32337464C>G | CA387775403 | BRCA2 | c.3109C>G (p.Gln1037Glu) c.2740C>G (p.Gln914Glu) n.3109C>G | |
| 13 | g.32337464C>T | CA017251 | BRCA2 | c.3109C>T (p.Gln1037Ter) c.2740C>T (p.Gln914Ter) n.3109C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337465A= | CA2082814483 | BRCA2 | c.3110A= (p.Gln1037=) c.2741A= (p.Gln914=) n.3110A= | |
| 13 | g.32337465A>C | CA387775407 | BRCA2 | c.3110A>C (p.Gln1037Pro) c.2741A>C (p.Gln914Pro) n.3110A>C | |
| 13 | g.32337465A>G | CA387775409 | BRCA2 | c.3110A>G (p.Gln1037Arg) c.2741A>G (p.Gln914Arg) n.3110A>G | ClinVar dbSNP |
| 13 | g.32337465A>T | CA387775413 | BRCA2 | c.3110A>T (p.Gln1037Leu) c.2741A>T (p.Gln914Leu) n.3110A>T | dbSNP |
| 13 | g.32337465_32337466del | CA2580087043 | BRCA2 | c.3110_3111del (p.Gln1037LeufsTer4) c.2741_2742del (p.Gln914LeufsTer4) n.3110_3111del | ClinVar |
| 13 | g.32337466A= | CA2082814489 | BRCA2 | c.3111A= (p.Gln1037=) c.2742A= (p.Gln914=) n.3111A= | |
| 13 | g.32337466A>C | CA387775416 | BRCA2 | c.3111A>C (p.Gln1037His) c.2742A>C (p.Gln914His) n.3111A>C | |
| 13 | g.32337466A>G | CA017259 | BRCA2 | c.3111A>G (p.Gln1037=) c.2742A>G (p.Gln914=) n.3111A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337466A>T | CA387775418 | BRCA2 | c.3111A>T (p.Gln1037His) c.2742A>T (p.Gln914His) n.3111A>T | dbSNP |
| 13 | g.32337466_32337512del | CA2695218181 | BRCA2 | c.3111_3157del (p.Gln1037HisfsTer3) c.2742_2788del (p.Gln914HisfsTer3) n.3111_3157del | |
| 13 | g.32337467T>A | CA387775431 | BRCA2 | c.3112T>A (p.Tyr1038Asn) c.2743T>A (p.Tyr915Asn) n.3112T>A | dbSNP |
| 13 | g.32337467T>C | CA16614131 | BRCA2 | c.3112T>C (p.Tyr1038His) c.2743T>C (p.Tyr915His) n.3112T>C | ClinVar dbSNP |
| 13 | g.32337467T>G | CA387775436 | BRCA2 | c.3112T>G (p.Tyr1038Asp) c.2743T>G (p.Tyr915Asp) n.3112T>G | |
| 13 | g.32337467T= | CA2082814497 | BRCA2 | c.3112T= (p.Tyr1038=) c.2743T= (p.Tyr915=) n.3112T= | |
| 13 | g.32337468A= | CA2082814512 | BRCA2 | c.3113A= (p.Tyr1038=) c.2744A= (p.Tyr915=) n.3113A= | |
| 13 | g.32337468A>C | CA387775439 | BRCA2 | c.3113A>C (p.Tyr1038Ser) c.2744A>C (p.Tyr915Ser) n.3113A>C | dbSNP |
| 13 | g.32337468A>G | CA10579564 | BRCA2 | c.3113A>G (p.Tyr1038Cys) c.2744A>G (p.Tyr915Cys) n.3113A>G | ClinVar dbSNP |
| 13 | g.32337468A>T | CA387775445 | BRCA2 | c.3113A>T (p.Tyr1038Phe) c.2744A>T (p.Tyr915Phe) n.3113A>T | dbSNP |
| 13 | g.32337469T>A | CA387775449 | BRCA2 | c.3114T>A (p.Tyr1038Ter) c.2745T>A (p.Tyr915Ter) n.3114T>A | dbSNP |
| 13 | g.32337469T>C | CA483437582 | BRCA2 | c.3114T>C (p.Tyr1038=) c.2745T>C (p.Tyr915=) n.3114T>C | |
| 13 | g.32337469T>G | CA387775451 | BRCA2 | c.3114T>G (p.Tyr1038Ter) c.2745T>G (p.Tyr915Ter) n.3114T>G | |
| 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 |