Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32356426_32356798del | CA2499222288 | BRCA2 | c.7436-2_7617+189del c.7067-2_7248+189del n.7436-2_7617+189del c.7340-2_7521+189del | ClinVar dbSNP |
13 | g.32356446_32356472delinsAGAATGCCAGAGATATACAGGATATGC | CA2082814115 | BRCA2 | c.7454_7480delinsAGAATGCCAGAGATATACAGGATATGC (p.Gln2485=) c.7085_7111delinsAGAATGCCAGAGATATACAGGATATGC (p.Gln2362=) c.19_45delinsAGAATGCCAGAGATATACAGGATATGC n.7454_7480delinsAGAATGCCAGAGATATACAGGATATGC c.7358_7384delinsAGAATGCCAGAGATATACAGGATATGC (p.Gln2453=) | |
13 | g.32356451_32356476del | CA16619762 | BRCA2 | c.7459_7484del (p.Ala2487Ter) c.7090_7115del (p.Ala2364Ter) c.24_49del n.7459_7484del c.7363_7388del (p.Ala2455Ter) | ClinVar dbSNP |
13 | g.32356457G>A | CA387743173 | BRCA2 | c.7465G>A (p.Asp2489Asn) c.7096G>A (p.Asp2366Asn) c.30G>A n.7465G>A c.7369G>A (p.Asp2457Asn) | ClinVar dbSNP |
13 | g.32356457G>C | CA387743172 | BRCA2 | c.7465G>C (p.Asp2489His) c.7096G>C (p.Asp2366His) c.30G>C n.7465G>C c.7369G>C (p.Asp2457His) | dbSNP |
13 | g.32356457G= | CA2082814181 | BRCA2 | c.7465G= (p.Asp2489=) c.7096G= (p.Asp2366=) c.30G= n.7465G= c.7369G= (p.Asp2457=) | |
13 | g.32356457G>T | CA387743174 | BRCA2 | c.7465G>T (p.Asp2489Tyr) c.7096G>T (p.Asp2366Tyr) c.30G>T n.7465G>T c.7369G>T (p.Asp2457Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356462_32356470del | CA2580614679 | BRCA2 | c.7470_7478del (p.Ile2490_Asp2492del) c.7101_7109del (p.Ile2367_Asp2369del) c.35_43del n.7470_7478del c.7374_7382del (p.Ile2458_Asp2460del) | ClinVar |
13 | g.32356458A= | CA2082814190 | BRCA2 | c.7466A= (p.Asp2489=) c.7097A= (p.Asp2366=) c.31A= n.7466A= c.7370A= (p.Asp2457=) | |
13 | g.32356458A>C | CA387743177 | BRCA2 | c.7466A>C (p.Asp2489Ala) c.7097A>C (p.Asp2366Ala) c.31A>C n.7466A>C c.7370A>C (p.Asp2457Ala) | |
13 | g.32356458A>G | CA025100 | BRCA2 | c.7466A>G (p.Asp2489Gly) c.7097A>G (p.Asp2366Gly) c.31A>G n.7466A>G c.7370A>G (p.Asp2457Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356458A>T | CA387743183 | BRCA2 | c.7466A>T (p.Asp2489Val) c.7097A>T (p.Asp2366Val) c.31A>T n.7466A>T c.7370A>T (p.Asp2457Val) | dbSNP |
13 | g.32356459T>A | CA387743188 | BRCA2 | c.7467T>A (p.Asp2489Glu) c.7098T>A (p.Asp2366Glu) c.32T>A n.7467T>A c.7371T>A (p.Asp2457Glu) | dbSNP |
13 | g.32356459T>C | CA483260367 | BRCA2 | c.7467T>C (p.Asp2489=) c.7098T>C (p.Asp2366=) c.32T>C n.7467T>C c.7371T>C (p.Asp2457=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356459T>G | CA387743191 | BRCA2 | c.7467T>G (p.Asp2489Glu) c.7098T>G (p.Asp2366Glu) c.32T>G n.7467T>G c.7371T>G (p.Asp2457Glu) | ClinVar dbSNP |
13 | g.32356459T= | CA2082814204 | BRCA2 | c.7467T= (p.Asp2489=) c.7098T= (p.Asp2366=) c.32T= n.7467T= c.7371T= (p.Asp2457=) | |
13 | g.32356459dup | CA025102 | BRCA2 | c.7467dup (p.Ile2490TyrfsTer7) c.7098dup (p.Ile2367TyrfsTer7) c.32dup n.7467dup c.7371dup (p.Ile2458TyrfsTer7) | ClinVar dbSNP |
13 | g.32356460A= | CA2082814213 | BRCA2 | c.7468A= (p.Ile2490=) c.7099A= (p.Ile2367=) c.33A= n.7468A= c.7372A= (p.Ile2458=) | |
13 | g.32356460A>C | CA387743196 | BRCA2 | c.7468A>C (p.Ile2490Leu) c.7099A>C (p.Ile2367Leu) c.33A>C n.7468A>C c.7372A>C (p.Ile2458Leu) | |
13 | g.32356460A>G | CA387743199 | BRCA2 | c.7468A>G (p.Ile2490Val) c.7099A>G (p.Ile2367Val) c.33A>G n.7468A>G c.7372A>G (p.Ile2458Val) | ClinVar dbSNP |
13 | g.32356460A>T | CA387743200 | BRCA2 | c.7468A>T (p.Ile2490Leu) c.7099A>T (p.Ile2367Leu) c.33A>T n.7468A>T c.7372A>T (p.Ile2458Leu) | dbSNP |
13 | g.32356460_32356461delinsAT | CA2082814212 | BRCA2 | c.7468_7469delinsAT (p.Ile2490=) c.7099_7100delinsAT (p.Ile2367=) c.33_34delinsAT n.7468_7469delinsAT c.7372_7373delinsAT (p.Ile2458=) | |
13 | g.32356461del | CA10589429 | BRCA2 | c.7469del (p.Ile2490AsnfsTer?) c.7100del (p.Ile2367AsnfsTer?) c.34del n.7469del c.7373del (p.Ile2458AsnfsTer?) | ClinVar dbSNP |
13 | g.32356461T>A | CA387743202 | BRCA2 | c.7469T>A (p.Ile2490Lys) c.7100T>A (p.Ile2367Lys) c.34T>A n.7469T>A c.7373T>A (p.Ile2458Lys) | dbSNP |
13 | g.32356461T>C | CA025105 | BRCA2 | c.7469T>C (p.Ile2490Thr) c.7100T>C (p.Ile2367Thr) c.34T>C n.7469T>C c.7373T>C (p.Ile2458Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356461T>G | CA387743205 | BRCA2 | c.7469T>G (p.Ile2490Arg) c.7100T>G (p.Ile2367Arg) c.34T>G n.7469T>G c.7373T>G (p.Ile2458Arg) | |
13 | g.32356461T= | CA2082814227 | BRCA2 | c.7469T= (p.Ile2490=) c.7100T= (p.Ile2367=) c.34T= n.7469T= c.7373T= (p.Ile2458=) | |
13 | g.32356461dup | CA025104 | BRCA2 | c.7469dup (p.Gln2491ThrfsTer6) c.7100dup (p.Gln2368ThrfsTer6) c.34dup n.7469dup c.7373dup (p.Gln2459ThrfsTer6) | ClinVar dbSNP |
13 | g.32356462A= | CA2082814239 | BRCA2 | c.7470A= (p.Ile2490=) c.7101A= (p.Ile2367=) c.35A= n.7470A= c.7374A= (p.Ile2458=) | |
13 | g.32356462A>C | CA483260368 | BRCA2 | c.7470A>C (p.Ile2490=) c.7101A>C (p.Ile2367=) c.35A>C n.7470A>C c.7374A>C (p.Ile2458=) | |
13 | g.32356462A>G | CA16606809 | BRCA2 | c.7470A>G (p.Ile2490Met) c.7101A>G (p.Ile2367Met) c.35A>G n.7470A>G c.7374A>G (p.Ile2458Met) | ClinVar dbSNP gnomAD v4 |
13 | g.32356462A>T | CA483260369 | BRCA2 | c.7470A>T (p.Ile2490=) c.7101A>T (p.Ile2367=) c.35A>T n.7470A>T c.7374A>T (p.Ile2458=) | dbSNP |
13 | g.32356462_32356463delinsAC | CA2082814238 | BRCA2 | c.7470_7471delinsAC (p.Ile2490=) c.7101_7102delinsAC (p.Ile2367=) c.35_36delinsAC n.7470_7471delinsAC c.7374_7375delinsAC (p.Ile2458=) | |
13 | g.32356463del | CA10586576 | BRCA2 | c.7471del (p.Gln2491ArgfsTer?) c.7102del (p.Gln2368ArgfsTer?) c.36del n.7471del c.7375del (p.Gln2459ArgfsTer?) | ClinVar dbSNP |
13 | g.32356463C>A | CA387743221 | BRCA2 | c.7471C>A (p.Gln2491Lys) c.7102C>A (p.Gln2368Lys) c.36C>A n.7471C>A c.7375C>A (p.Gln2459Lys) | dbSNP |
13 | g.32356463C= | CA2082814252 | BRCA2 | c.7471C= (p.Gln2491=) c.7102C= (p.Gln2368=) c.36C= n.7471C= c.7375C= (p.Gln2459=) | |
13 | g.32356463C>G | CA387743224 | BRCA2 | c.7471C>G (p.Gln2491Glu) c.7102C>G (p.Gln2368Glu) c.36C>G n.7471C>G c.7375C>G (p.Gln2459Glu) | dbSNP |
13 | g.32356463C>T | CA025106 | BRCA2 | c.7471C>T (p.Gln2491Ter) c.7102C>T (p.Gln2368Ter) c.36C>T n.7471C>T c.7375C>T (p.Gln2459Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32356464A= | CA2082814263 | BRCA2 | c.7472A= (p.Gln2491=) c.7103A= (p.Gln2368=) c.37A= n.7472A= c.7376A= (p.Gln2459=) | |
13 | g.32356464A>C | CA387743228 | BRCA2 | c.7472A>C (p.Gln2491Pro) c.7103A>C (p.Gln2368Pro) c.37A>C n.7472A>C c.7376A>C (p.Gln2459Pro) | |
13 | g.32356464A>G | CA247469683 | BRCA2 | c.7472A>G (p.Gln2491Arg) c.7103A>G (p.Gln2368Arg) c.37A>G n.7472A>G c.7376A>G (p.Gln2459Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356464A>T | CA387743232 | BRCA2 | c.7472A>T (p.Gln2491Leu) c.7103A>T (p.Gln2368Leu) c.37A>T n.7472A>T c.7376A>T (p.Gln2459Leu) | ClinVar dbSNP |
13 | g.32356465G>A | CA483260370 | BRCA2 | c.7473G>A (p.Gln2491=) c.7104G>A (p.Gln2368=) c.38G>A n.7473G>A c.7377G>A (p.Gln2459=) | ClinVar dbSNP gnomAD v4 |
13 | g.32356465G>C | CA387743234 | BRCA2 | c.7473G>C (p.Gln2491His) c.7104G>C (p.Gln2368His) c.38G>C n.7473G>C c.7377G>C (p.Gln2459His) | ClinVar dbSNP |
13 | g.32356465G>T | CA387743236 | BRCA2 | c.7473G>T (p.Gln2491His) c.7104G>T (p.Gln2368His) c.38G>T n.7473G>T c.7377G>T (p.Gln2459His) | dbSNP |
13 | g.32356465_32356467delinsGGA | CA2082814270 | BRCA2 | c.7473_7475delinsGGA (p.Gln2491=) c.7104_7106delinsGGA (p.Gln2368=) c.38_40delinsGGA n.7473_7475delinsGGA c.7377_7379delinsGGA (p.Gln2459=) | |
13 | g.32356466G>A | CA387743238 | BRCA2 | c.7474G>A (p.Asp2492Asn) c.7105G>A (p.Asp2369Asn) c.39G>A n.7474G>A c.7378G>A (p.Asp2460Asn) | dbSNP |
13 | g.32356466G>C | CA387743240 | BRCA2 | c.7474G>C (p.Asp2492His) c.7105G>C (p.Asp2369His) c.39G>C n.7474G>C c.7378G>C (p.Asp2460His) | dbSNP |
13 | g.32356466G>T | CA387743245 | BRCA2 | c.7474G>T (p.Asp2492Tyr) c.7105G>T (p.Asp2369Tyr) c.39G>T n.7474G>T c.7378G>T (p.Asp2460Tyr) | |
13 | g.32356466_32356467del | CA025107 | BRCA2 | c.7474_7475del (p.Asp2492TyrfsTer4) c.7105_7106del (p.Asp2369TyrfsTer4) c.39_40del n.7474_7475del c.7378_7379del (p.Asp2460TyrfsTer4) | ClinVar dbSNP |