| 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.32337429_32337457delinsAGAAGAGCAAAATGTTCTTCAAAGATATT | CA2082814174 | BRCA2 | c.3074_3102delinsAGAAGAGCAAAATGTTCTTCAAAGATATT (p.Lys1025=) c.2705_2733delinsAGAAGAGCAAAATGTTCTTCAAAGATATT (p.Lys902=) n.3074_3102delinsAGAAGAGCAAAATGTTCTTCAAAGATATT | |
| 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.32337452_32337454delinsGAT | CA2082814376 | BRCA2 | c.3097_3099delinsGAT (p.Asp1033=) c.2728_2730delinsGAT (p.Asp910=) n.3097_3099delinsGAT | |
| 13 | g.32337455_32337456del | CA609453778 | BRCA2 | c.3100_3101del (p.Ile1034Ter) c.2731_2732del (p.Ile911Ter) n.3100_3101del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337454T>A | CA387775322 | BRCA2 | c.3099T>A (p.Asp1033Glu) c.2730T>A (p.Asp910Glu) n.3099T>A | dbSNP |
| 13 | g.32337454T>C | CA483437561 | BRCA2 | c.3099T>C (p.Asp1033=) c.2730T>C (p.Asp910=) n.3099T>C | |
| 13 | g.32337454T>G | CA387775319 | BRCA2 | c.3099T>G (p.Asp1033Glu) c.2730T>G (p.Asp910Glu) n.3099T>G | |
| 13 | g.32337454T= | CA2082814394 | BRCA2 | c.3099T= (p.Asp1033=) c.2730T= (p.Asp910=) n.3099T= | |
| 13 | g.32337455A= | CA2082814400 | BRCA2 | c.3100A= (p.Ile1034=) c.2731A= (p.Ile911=) n.3100A= | |
| 13 | g.32337455A>C | CA387775323 | BRCA2 | c.3100A>C (p.Ile1034Leu) c.2731A>C (p.Ile911Leu) n.3100A>C | |
| 13 | g.32337455A>G | CA6940667 | BRCA2 | c.3100A>G (p.Ile1034Val) c.2731A>G (p.Ile911Val) n.3100A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337455A>T | CA387775325 | BRCA2 | c.3100A>T (p.Ile1034Phe) c.2731A>T (p.Ile911Phe) n.3100A>T | |
| 13 | g.32337455dup | CA10589187 | BRCA2 | c.3100dup (p.Ile1034AsnfsTer2) c.2731dup (p.Ile911AsnfsTer2) n.3100dup | ClinVar dbSNP |
| 13 | g.32337456T>A | CA387775327 | BRCA2 | c.3101T>A (p.Ile1034Asn) c.2732T>A (p.Ile911Asn) n.3101T>A | ClinVar dbSNP |
| 13 | g.32337456T>C | CA6940668 | BRCA2 | c.3101T>C (p.Ile1034Thr) c.2732T>C (p.Ile911Thr) n.3101T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337456T>G | CA387775331 | BRCA2 | c.3101T>G (p.Ile1034Ser) c.2732T>G (p.Ile911Ser) n.3101T>G | ClinVar dbSNP |
| 13 | g.32337456T= | CA2082814408 | BRCA2 | c.3101T= (p.Ile1034=) c.2732T= (p.Ile911=) n.3101T= | |
| 13 | g.32337457T>A | CA483437568 | BRCA2 | c.3102T>A (p.Ile1034=) c.2733T>A (p.Ile911=) n.3102T>A | |
| 13 | g.32337457T>C | CA483437570 | BRCA2 | c.3102T>C (p.Ile1034=) c.2733T>C (p.Ile911=) n.3102T>C | dbSNP gnomAD v4 |
| 13 | g.32337457T>G | CA387775345 | BRCA2 | c.3102T>G (p.Ile1034Met) c.2733T>G (p.Ile911Met) n.3102T>G | gnomAD v4 |
| 13 | g.32337457T= | CA2082814415 | BRCA2 | c.3102T= (p.Ile1034=) c.2733T= (p.Ile911=) n.3102T= | |
| 13 | g.32337457_32337460delinsTGAA | CA2082814414 | BRCA2 | c.3102_3105delinsTGAA (p.Ile1034=) c.2733_2736delinsTGAA (p.Ile911=) n.3102_3105delinsTGAA | |
| 13 | g.32337458G>A | CA387775346 | BRCA2 | c.3103G>A (p.Glu1035Lys) c.2734G>A (p.Glu912Lys) n.3103G>A | dbSNP |
| 13 | g.32337458G>C | CA387775349 | BRCA2 | c.3103G>C (p.Glu1035Gln) c.2734G>C (p.Glu912Gln) n.3103G>C | dbSNP |
| 13 | g.32337458G= | CA2082814420 | BRCA2 | c.3103G= (p.Glu1035=) c.2734G= (p.Glu912=) n.3103G= | |
| 13 | g.32337458G>T | CA017241 | BRCA2 | c.3103G>T (p.Glu1035Ter) c.2734G>T (p.Glu912Ter) n.3103G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337461_32337463del | CA891844450 | BRCA2 | c.3106_3108del (p.Glu1036del) c.2737_2739del (p.Glu913del) n.3106_3108del | ClinVar dbSNP |
| 13 | g.32337459A= | CA2082814432 | BRCA2 | c.3104A= (p.Glu1035=) c.2735A= (p.Glu912=) n.3104A= | |
| 13 | g.32337459A>C | CA387775356 | BRCA2 | c.3104A>C (p.Glu1035Ala) c.2735A>C (p.Glu912Ala) n.3104A>C | |
| 13 | g.32337459A>G | CA387775358 | BRCA2 | c.3104A>G (p.Glu1035Gly) c.2735A>G (p.Glu912Gly) n.3104A>G | ClinVar dbSNP |
| 13 | g.32337459A>T | CA387775361 | BRCA2 | c.3104A>T (p.Glu1035Val) c.2735A>T (p.Glu912Val) n.3104A>T | dbSNP |
| 13 | g.32337460A>C | CA387775364 | BRCA2 | c.3105A>C (p.Glu1035Asp) c.2736A>C (p.Glu912Asp) n.3105A>C | |
| 13 | g.32337460A>G | CA483437574 | BRCA2 | c.3105A>G (p.Glu1035=) c.2736A>G (p.Glu912=) n.3105A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337460A>T | CA387775366 | BRCA2 | c.3105A>T (p.Glu1035Asp) c.2736A>T (p.Glu912Asp) n.3105A>T | 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.32337461_32337462insTCGAGCGACGAGTCTTCGCGTCCTTGAATATTGGTGTCGTAACGATAGCTACCATCAGCGGCAAAGGGTTCGAAATAGGGATTGGCTAGGCGCGAGTAGT | CA2741308452 | BRCA2 | c.3106_3107insTCGAGCGACGAGTCTTCGCGTCCTTGAATATTGGTGTCGTAACGATAGCTACCATCAGCGGCAAAGGGTTCGAAATAGGGATTGGCTAGGCGCGAGTAGT (p.Glu1036ValfsTer30) c.2737_2738insTCGAGCGACGAGTCTTCGCGTCCTTGAATATTGGTGTCGTAACGATAGCTACCATCAGCGGCAAAGGGTTCGAAATAGGGATTGGCTAGGCGCGAGTAGT (p.Glu913ValfsTer30) n.3106_3107insTCGAGCGACGAGTCTTCGCGTCCTTGAATATTGGTGTCGTAACGATAGCTACCATCAGCGGCAAAGGGTTCGAAATAGGGATTGGCTAGGCGCGAGTAGT | |
| 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 | ClinVar dbSNP |
| 13 | g.32337462A>T | CA387775387 | BRCA2 | c.3107A>T (p.Glu1036Val) c.2738A>T (p.Glu913Val) n.3107A>T | ClinVar dbSNP |