| 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.32330917_32331031del | CA2499222059 | BRCA2 | c.682-2_793+1del c.313-2_424+1del c.*461-2_*572+1del n.880-2_991+1del n.682-2_793+1del | ClinVar dbSNP |
| 13 | g.32330970_32330977del | CA2739277531 | BRCA2 | c.733_740del (p.Ile247CysfsTer5) c.364_371del (p.Ile124CysfsTer5) c.*512_*519del (n.*512_*519del) n.931_938del n.733_740del | ClinVar |
| 13 | g.32330969_32330989delinsTAGATTTATCGCTTCTGTGAC | CA2082759259 | BRCA2 | c.732_752delinsTAGATTTATCGCTTCTGTGAC (p.Asp244=) c.363_383delinsTAGATTTATCGCTTCTGTGAC (p.Asp121=) c.*511_*531delinsTAGATTTATCGCTTCTGTGAC (n.*511_*531delinsTAGATTTATCGCTTCTGTGAC) n.930_950delinsTAGATTTATCGCTTCTGTGAC n.732_752delinsTAGATTTATCGCTTCTGTGAC | |
| 13 | g.32330973_32330992del | CA10589047 | BRCA2 | c.736_755del (p.Phe246GlnfsTer2) c.367_386del (p.Phe123GlnfsTer2) c.*515_*534del (n.*515_*534del) n.934_953del n.736_755del | ClinVar dbSNP |
| 13 | g.32330974_32330976delinsTTA | CA2082759324 | BRCA2 | c.737_739delinsTTA (p.Phe246=) c.368_370delinsTTA (p.Phe123=) c.*516_*518delinsTTA (n.*516_*518delinsTTA) n.935_937delinsTTA n.737_739delinsTTA | |
| 13 | g.32330976_32330977del | CA10589048 | BRCA2 | c.739_740del (p.Ile247ArgfsTer7) c.370_371del (p.Ile124ArgfsTer7) c.*518_*519del (n.*518_*519del) n.937_938del n.739_740del | ClinVar dbSNP |
| 13 | g.32330976A= | CA2082759346 | BRCA2 | c.739A= (p.Ile247=) c.370A= (p.Ile124=) c.*518A= (n.*518A=) n.937A= n.739A= | |
| 13 | g.32330976A>C | CA387760059 | BRCA2 | c.739A>C (p.Ile247Leu) c.370A>C (p.Ile124Leu) c.*518A>C (n.*518A>C) n.937A>C n.739A>C | dbSNP |
| 13 | g.32330976A>G | CA387760056 | BRCA2 | c.739A>G (p.Ile247Val) c.370A>G (p.Ile124Val) c.*518A>G (n.*518A>G) n.937A>G n.739A>G | ClinVar dbSNP |
| 13 | g.32330976A>T | CA387760058 | BRCA2 | c.739A>T (p.Ile247Phe) c.370A>T (p.Ile124Phe) c.*518A>T (n.*518A>T) n.937A>T n.739A>T | ClinVar dbSNP |
| 13 | g.32330976_32330977insAG | CA658823653 | BRCA2 | c.739_740insAG (p.Ile247LysfsTer5) c.370_371insAG (p.Ile124LysfsTer5) c.*518_*519insAG (n.*518_*519insAG) n.937_938insAG n.739_740insAG | ClinVar dbSNP |
| 13 | g.32330977T>A | CA387760060 | BRCA2 | c.740T>A (p.Ile247Asn) c.371T>A (p.Ile124Asn) c.*519T>A (n.*519T>A) n.938T>A n.740T>A | dbSNP |
| 13 | g.32330977T>C | CA025060 | BRCA2 | c.740T>C (p.Ile247Thr) c.371T>C (p.Ile124Thr) c.*519T>C (n.*519T>C) n.938T>C n.740T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32330977T>G | CA387760062 | BRCA2 | c.740T>G (p.Ile247Ser) c.371T>G (p.Ile124Ser) c.*519T>G (n.*519T>G) n.938T>G n.740T>G | dbSNP |
| 13 | g.32330977T= | CA2082759356 | BRCA2 | c.740T= (p.Ile247=) c.371T= (p.Ile124=) c.*519T= (n.*519T=) n.938T= n.740T= | |
| 13 | g.32330977_32330978insAG | CA025057 | BRCA2 | c.740_741insAG (p.Ser249LeufsTer3) c.371_372insAG (p.Ser126LeufsTer3) c.*519_*520insAG (n.*519_*520insAG) n.938_939insAG n.740_741insAG | ClinVar dbSNP |
| 13 | g.32330978C>A | CA483274448 | BRCA2 | c.741C>A (p.Ile247=) c.372C>A (p.Ile124=) c.*520C>A (n.*520C>A) n.939C>A n.741C>A | gnomAD v4 |
| 13 | g.32330978C= | CA2082759364 | BRCA2 | c.741C= (p.Ile247=) c.372C= (p.Ile124=) c.*520C= (n.*520C=) n.939C= n.741C= | |
| 13 | g.32330978C>G | CA387760063 | BRCA2 | c.741C>G (p.Ile247Met) c.372C>G (p.Ile124Met) c.*520C>G (n.*520C>G) n.939C>G n.741C>G | ClinVar dbSNP |
| 13 | g.32330978C>T | CA025074 | BRCA2 | c.741C>T (p.Ile247=) c.372C>T (p.Ile124=) c.*520C>T (n.*520C>T) n.939C>T n.741C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32330979G>A | CA025077 | BRCA2 | c.742G>A (p.Ala248Thr) c.373G>A (p.Ala125Thr) c.*521G>A (n.*521G>A) n.940G>A n.742G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32330979G>C | CA387760067 | BRCA2 | c.742G>C (p.Ala248Pro) c.373G>C (p.Ala125Pro) c.*521G>C (n.*521G>C) n.940G>C n.742G>C | dbSNP |
| 13 | g.32330979G= | CA2082759372 | BRCA2 | c.742G= (p.Ala248=) c.373G= (p.Ala125=) c.*521G= (n.*521G=) n.940G= n.742G= | |
| 13 | g.32330979G>T | CA387760068 | BRCA2 | c.742G>T (p.Ala248Ser) c.373G>T (p.Ala125Ser) c.*521G>T (n.*521G>T) n.940G>T n.742G>T | dbSNP |
| 13 | g.32330979_32330980delinsGC | CA2082759370 | BRCA2 | c.742_743delinsGC (p.Ala248=) c.373_374delinsGC (p.Ala125=) c.*521_*522delinsGC (n.*521_*522delinsGC) n.940_941delinsGC n.742_743delinsGC | |
| 13 | g.32330980del | CA10589049 | BRCA2 | c.743del (p.Ala248ValfsTer3) c.374del (p.Ala125ValfsTer3) c.*522del (n.*522del) n.941del n.743del | ClinVar dbSNP |
| 13 | g.32330980C>A | CA247494241 | BRCA2 | c.743C>A (p.Ala248Asp) c.374C>A (p.Ala125Asp) c.*522C>A (n.*522C>A) n.941C>A n.743C>A | dbSNP |
| 13 | g.32330980C= | CA2082759384 | BRCA2 | c.743C= (p.Ala248=) c.374C= (p.Ala125=) c.*522C= (n.*522C=) n.941C= n.743C= | |
| 13 | g.32330980C>G | CA025091 | BRCA2 | c.743C>G (p.Ala248Gly) c.374C>G (p.Ala125Gly) c.*522C>G (n.*522C>G) n.941C>G n.743C>G | ClinVar dbSNP |
| 13 | g.32330980C>T | CA387760072 | BRCA2 | c.743C>T (p.Ala248Val) c.374C>T (p.Ala125Val) c.*522C>T (n.*522C>T) n.941C>T n.743C>T | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32330981T>A | CA6940440 | BRCA2 | c.744T>A (p.Ala248=) c.375T>A (p.Ala125=) c.*523T>A (n.*523T>A) n.942T>A n.744T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32330981T>C | CA483274453 | BRCA2 | c.744T>C (p.Ala248=) c.375T>C (p.Ala125=) c.*523T>C (n.*523T>C) n.942T>C n.744T>C | dbSNP |
| 13 | g.32330981T>G | CA483274455 | BRCA2 | c.744T>G (p.Ala248=) c.375T>G (p.Ala125=) c.*523T>G (n.*523T>G) n.942T>G n.744T>G | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32330981T= | CA2082759392 | BRCA2 | c.744T= (p.Ala248=) c.375T= (p.Ala125=) c.*523T= (n.*523T=) n.942T= n.744T= | |
| 13 | g.32330981_32330994delinsTTCTGTGACAGACA | CA2082759396 | BRCA2 | c.744_757delinsTTCTGTGACAGACA (p.Ala248=) c.375_388delinsTTCTGTGACAGACA (p.Ala125=) c.*523_*536delinsTTCTGTGACAGACA (n.*523_*536delinsTTCTGTGACAGACA) n.942_955delinsTTCTGTGACAGACA n.744_757delinsTTCTGTGACAGACA | |
| 13 | g.32330982T>A | CA387760074 | BRCA2 | c.745T>A (p.Ser249Thr) c.376T>A (p.Ser126Thr) c.*524T>A (n.*524T>A) n.943T>A n.745T>A | |
| 13 | g.32330982T>C | CA387760076 | BRCA2 | c.745T>C (p.Ser249Pro) c.376T>C (p.Ser126Pro) c.*524T>C (n.*524T>C) n.943T>C n.745T>C | ClinVar dbSNP |
| 13 | g.32330982T>G | CA387760077 | BRCA2 | c.745T>G (p.Ser249Ala) c.376T>G (p.Ser126Ala) c.*524T>G (n.*524T>G) n.943T>G n.745T>G | ClinVar gnomAD v4 |
| 13 | g.32330982T= | CA2082759403 | BRCA2 | c.745T= (p.Ser249=) c.376T= (p.Ser126=) c.*524T= (n.*524T=) n.943T= n.745T= | |
| 13 | g.32330982_32330994del | CA645372986 | BRCA2 | c.745_757del (p.Ser249ValfsTer24) c.376_388del (p.Ser126ValfsTer24) c.*524_*536del (n.*524_*536del) n.943_955del n.745_757del | ClinVar dbSNP |
| 13 | g.32330983C>A | CA387760079 | BRCA2 | c.746C>A (p.Ser249Tyr) c.377C>A (p.Ser126Tyr) c.*525C>A (n.*525C>A) n.944C>A n.746C>A | dbSNP |
| 13 | g.32330983C>G | CA387760081 | BRCA2 | c.746C>G (p.Ser249Cys) c.377C>G (p.Ser126Cys) c.*525C>G (n.*525C>G) n.944C>G n.746C>G | dbSNP |
| 13 | g.32330983C>T | CA387760082 | BRCA2 | c.746C>T (p.Ser249Phe) c.377C>T (p.Ser126Phe) c.*525C>T (n.*525C>T) n.944C>T n.746C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32330984T>A | CA338591 | BRCA2 | c.747T>A (p.Ser249=) c.378T>A (p.Ser126=) c.*526T>A (n.*526T>A) n.945T>A n.747T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32330984T>C | CA483274459 | BRCA2 | c.747T>C (p.Ser249=) c.378T>C (p.Ser126=) c.*526T>C (n.*526T>C) n.945T>C n.747T>C | ClinVar |
| 13 | g.32330984T>G | CA483274458 | BRCA2 | c.747T>G (p.Ser249=) c.378T>G (p.Ser126=) c.*526T>G (n.*526T>G) n.945T>G n.747T>G | |
| 13 | g.32330984T= | CA2082759419 | BRCA2 | c.747T= (p.Ser249=) c.378T= (p.Ser126=) c.*526T= (n.*526T=) n.945T= n.747T= | |
| 13 | g.32330984_32330985delinsTG | CA2082759417 | BRCA2 | c.747_748delinsTG (p.Ser249=) c.378_379delinsTG (p.Ser126=) c.*526_*527delinsTG (n.*526_*527delinsTG) n.945_946delinsTG n.747_748delinsTG | |
| 13 | g.32330985del | CA025114 | BRCA2 | c.748del (p.Val250Ter) c.379del (p.Val127Ter) c.*527del (n.*527del) n.946del n.748del | ClinVar dbSNP |