Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32338423_32338441dup | CA2695199713 | BRCA2 | c.4068_4086dup (p.Asn1363AlafsTer4) c.3699_3717dup (p.Asn1240AlafsTer4) n.4068_4086dup | ClinVar |
13 | g.32338435_32338443del | CA2580614674 | BRCA2 | c.4080_4088del (p.Gln1361_Asn1363del) c.3711_3719del (p.Gln1238_Asn1240del) n.4080_4088del | ClinVar |
13 | g.32338435_32338438delinsTCAG | CA2082823655 | BRCA2 | c.4080_4083delinsTCAG (p.Asp1360=) c.3711_3714delinsTCAG (p.Asp1237=) n.4080_4083delinsTCAG | |
13 | g.32338438_32338440del | CA2082823665 | BRCA2 | c.4083_4085del (p.Gln1361del) c.3714_3716del (p.Gln1238del) n.4083_4085del | dbSNP gnomAD v4 |
13 | g.32338438G>A | CA16606785 | BRCA2 | c.4083G>A (p.Gln1361=) c.3714G>A (p.Gln1238=) n.4083G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338438G>C | CA387779188 | BRCA2 | c.4083G>C (p.Gln1361His) c.3714G>C (p.Gln1238His) n.4083G>C | dbSNP |
13 | g.32338438G= | CA2082823689 | BRCA2 | c.4083G= (p.Gln1361=) c.3714G= (p.Gln1238=) n.4083G= | |
13 | g.32338438G>T | CA387779189 | BRCA2 | c.4083G>T (p.Gln1361His) c.3714G>T (p.Gln1238His) n.4083G>T | dbSNP |
13 | g.32338439del | CA483438182 | BRCA2 | c.4084del (p.His1362ThrfsTer12) c.3715del (p.His1239ThrfsTer12) n.4084del | COSMIC |
13 | g.32338439C>A | CA387779191 | BRCA2 | c.4084C>A (p.His1362Asn) c.3715C>A (p.His1239Asn) n.4084C>A | |
13 | g.32338439C>G | CA387779193 | BRCA2 | c.4084C>G (p.His1362Asp) c.3715C>G (p.His1239Asp) n.4084C>G | |
13 | g.32338439C>T | CA387779194 | BRCA2 | c.4084C>T (p.His1362Tyr) c.3715C>T (p.His1239Tyr) n.4084C>T | ClinVar |
13 | g.32338439_32338440delinsCA | CA2082823698 | BRCA2 | c.4084_4085delinsCA (p.His1362=) c.3715_3716delinsCA (p.His1239=) n.4084_4085delinsCA | |
13 | g.32338440del | CA019488 | BRCA2 | c.4085del (p.His1362ProfsTer12) c.3716del (p.His1239ProfsTer12) n.4085del | ClinVar dbSNP gnomAD v4 |
13 | g.32338440A= | CA2082823708 | BRCA2 | c.4085A= (p.His1362=) c.3716A= (p.His1239=) n.4085A= | |
13 | g.32338440A>C | CA387779196 | BRCA2 | c.4085A>C (p.His1362Pro) c.3716A>C (p.His1239Pro) n.4085A>C | dbSNP |
13 | g.32338440A>G | CA16614300 | BRCA2 | c.4085A>G (p.His1362Arg) c.3716A>G (p.His1239Arg) n.4085A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338440A>T | CA387779199 | BRCA2 | c.4085A>T (p.His1362Leu) c.3716A>T (p.His1239Leu) n.4085A>T | ClinVar dbSNP |
13 | g.32338441C>A | CA387779200 | BRCA2 | c.4086C>A (p.His1362Gln) c.3717C>A (p.His1239Gln) n.4086C>A | |
13 | g.32338441C= | CA2082823715 | BRCA2 | c.4086C= (p.His1362=) c.3717C= (p.His1239=) n.4086C= | |
13 | g.32338441C>G | CA387779202 | BRCA2 | c.4086C>G (p.His1362Gln) c.3717C>G (p.His1239Gln) n.4086C>G | ClinVar dbSNP |
13 | g.32338441C>T | CA6940745 | BRCA2 | c.4086C>T (p.His1362=) c.3717C>T (p.His1239=) n.4086C>T | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.32338453_32338454insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCCAACATATGTCTT | CA2499222154 | BRCA2 | c.4098_4099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCCAACATATGTCTT (p.Lys1367PhefsTer65) c.3729_3730insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCCAACATATGTCTT (p.Lys1244PhefsTer65) n.4098_4099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCCAACATATGTCTT | ClinVar dbSNP |
13 | g.32338442A= | CA2082823725 | BRCA2 | c.4087A= (p.Asn1363=) c.3718A= (p.Asn1240=) n.4087A= | |
13 | g.32338442A>C | CA387779207 | BRCA2 | c.4087A>C (p.Asn1363His) c.3718A>C (p.Asn1240His) n.4087A>C | ClinVar |
13 | g.32338442A>G | CA387779205 | BRCA2 | c.4087A>G (p.Asn1363Asp) c.3718A>G (p.Asn1240Asp) n.4087A>G | ClinVar dbSNP |
13 | g.32338442A>T | CA387779204 | BRCA2 | c.4087A>T (p.Asn1363Tyr) c.3718A>T (p.Asn1240Tyr) n.4087A>T | dbSNP |
13 | g.32338443dup | CA1139770792 | BRCA2 | c.4088dup (p.Asn1363LysfsTer5) c.3719dup (p.Asn1240LysfsTer5) n.4088dup | |
13 | g.32338443A= | CA2082823732 | BRCA2 | c.4088A= (p.Asn1363=) c.3719A= (p.Asn1240=) n.4088A= | |
13 | g.32338443A>C | CA387779210 | BRCA2 | c.4088A>C (p.Asn1363Thr) c.3719A>C (p.Asn1240Thr) n.4088A>C | dbSNP |
13 | g.32338443A>G | CA387779211 | BRCA2 | c.4088A>G (p.Asn1363Ser) c.3719A>G (p.Asn1240Ser) n.4088A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338443A>T | CA387779213 | BRCA2 | c.4088A>T (p.Asn1363Ile) c.3719A>T (p.Asn1240Ile) n.4088A>T | dbSNP |
13 | g.32338444C>A | CA10579600 | BRCA2 | c.4089C>A (p.Asn1363Lys) c.3720C>A (p.Asn1240Lys) n.4089C>A | ClinVar dbSNP |
13 | g.32338444C= | CA2082823749 | BRCA2 | c.4089C= (p.Asn1363=) c.3720C= (p.Asn1240=) n.4089C= | |
13 | g.32338444C>G | CA387779214 | BRCA2 | c.4089C>G (p.Asn1363Lys) c.3720C>G (p.Asn1240Lys) n.4089C>G | gnomAD v4 |
13 | g.32338444C>T | CA019492 | BRCA2 | c.4089C>T (p.Asn1363=) c.3720C>T (p.Asn1240=) n.4089C>T | ClinVar dbSNP |
13 | g.32338444_32338446delinsCAT | CA2082823758 | BRCA2 | c.4089_4091delinsCAT (p.Asn1363=) c.3720_3722delinsCAT (p.Asn1240=) n.4089_4091delinsCAT | |
13 | g.32338444_32338445insTTG | CA2082823778 | BRCA2 | c.4089_4090insTTG (p.Asn1363_Ile1364insLeu) c.3720_3721insTTG (p.Asn1240_Ile1241insLeu) n.4089_4090insTTG | dbSNP |
13 | g.32338445A= | CA2082823782 | BRCA2 | c.4090A= (p.Ile1364=) c.3721A= (p.Ile1241=) n.4090A= | |
13 | g.32338445A>C | CA019496 | BRCA2 | c.4090A>C (p.Ile1364Leu) c.3721A>C (p.Ile1241Leu) n.4090A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338445A>G | CA019501 | BRCA2 | c.4090A>G (p.Ile1364Val) c.3721A>G (p.Ile1241Val) n.4090A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338445A>T | CA387779218 | BRCA2 | c.4090A>T (p.Ile1364Leu) c.3721A>T (p.Ile1241Leu) n.4090A>T | dbSNP |
13 | g.32338447_32338448del | CA019504 | BRCA2 | c.4092_4093del (p.Ile1364MetfsTer3) c.3723_3724del (p.Ile1241MetfsTer3) n.4092_4093del | ClinVar dbSNP COSMIC |
13 | g.32338446T>A | CA387779220 | BRCA2 | c.4091T>A (p.Ile1364Lys) c.3722T>A (p.Ile1241Lys) n.4091T>A | dbSNP |
13 | g.32338446T>C | CA387779221 | BRCA2 | c.4091T>C (p.Ile1364Thr) c.3722T>C (p.Ile1241Thr) n.4091T>C | gnomAD v4 |
13 | g.32338446T>G | CA387779222 | BRCA2 | c.4091T>G (p.Ile1364Arg) c.3722T>G (p.Ile1241Arg) n.4091T>G | |
13 | g.32338446T= | CA2082823794 | BRCA2 | c.4091T= (p.Ile1364=) c.3722T= (p.Ile1241=) n.4091T= | |
13 | g.32338447A>C | CA483438194 | BRCA2 | c.4092A>C (p.Ile1364=) c.3723A>C (p.Ile1241=) n.4092A>C | |
13 | g.32338447A>G | CA387779225 | BRCA2 | c.4092A>G (p.Ile1364Met) c.3723A>G (p.Ile1241Met) n.4092A>G | ClinVar |
13 | g.32338447A>T | CA483438195 | BRCA2 | c.4092A>T (p.Ile1364=) c.3723A>T (p.Ile1241=) n.4092A>T | dbSNP |
13 | g.32338447_32338448insAA | CA10579601 | BRCA2 | c.4092_4093insAA (p.Cys1365AsnfsTer10) c.3723_3724insAA (p.Cys1242AsnfsTer10) n.4092_4093insAA | ClinVar dbSNP |
13 | g.32338447dup | CA10589240 | BRCA2 | c.4092dup (p.Cys1365MetfsTer3) c.3723dup (p.Cys1242MetfsTer3) n.4092dup | ClinVar dbSNP |
13 | g.32338448T>A | CA387779226 | BRCA2 | c.4093T>A (p.Cys1365Ser) c.3724T>A (p.Cys1242Ser) n.4093T>A | dbSNP |
13 | g.32338448T>C | CA387779229 | BRCA2 | c.4093T>C (p.Cys1365Arg) c.3724T>C (p.Cys1242Arg) n.4093T>C | ClinVar dbSNP |
13 | g.32338448T>G | CA387779228 | BRCA2 | c.4093T>G (p.Cys1365Gly) c.3724T>G (p.Cys1242Gly) n.4093T>G | |
13 | g.32338449G>A | CA019508 | BRCA2 | c.4094G>A (p.Cys1365Tyr) c.3725G>A (p.Cys1242Tyr) n.4094G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338449G>C | CA387779231 | BRCA2 | c.4094G>C (p.Cys1365Ser) c.3725G>C (p.Cys1242Ser) n.4094G>C | ClinVar dbSNP |
13 | g.32338449G= | CA2082823816 | BRCA2 | c.4094G= (p.Cys1365=) c.3725G= (p.Cys1242=) n.4094G= | |
13 | g.32338449G>T | CA387779233 | BRCA2 | c.4094G>T (p.Cys1365Phe) c.3725G>T (p.Cys1242Phe) n.4094G>T | COSMIC COSMIC |
13 | g.32338449_32338450delinsGT | CA2082823822 | BRCA2 | c.4094_4095delinsGT (p.Cys1365=) c.3725_3726delinsGT (p.Cys1242=) n.4094_4095delinsGT | |
13 | g.32338450del | CA019512 | BRCA2 | c.4095del (p.Lys1367AsnfsTer7) c.3726del (p.Lys1244AsnfsTer7) n.4095del | ClinVar dbSNP |
13 | g.32338450T>A | CA019517 | BRCA2 | c.4095T>A (p.Cys1365Ter) c.3726T>A (p.Cys1242Ter) n.4095T>A | ClinVar dbSNP |
13 | g.32338450T>C | CA483438201 | BRCA2 | c.4095T>C (p.Cys1365=) c.3726T>C (p.Cys1242=) n.4095T>C | gnomAD v4 |
13 | g.32338450T>G | CA387779235 | BRCA2 | c.4095T>G (p.Cys1365Trp) c.3726T>G (p.Cys1242Trp) n.4095T>G | |
13 | g.32338450T= | CA2082823840 | BRCA2 | c.4095T= (p.Cys1365=) c.3726T= (p.Cys1242=) n.4095T= | |
13 | g.32338451_32338452insCATC | CA658823566 | BRCA2 | c.4096_4097insCATC (p.Leu1366ProfsTer3) c.3727_3728insCATC (p.Leu1243ProfsTer3) n.4096_4097insCATC | ClinVar dbSNP |
13 | g.32338451C>A | CA387779239 | BRCA2 | c.4096C>A (p.Leu1366Ile) c.3727C>A (p.Leu1243Ile) n.4096C>A | dbSNP |
13 | g.32338451C= | CA2082823857 | BRCA2 | c.4096C= (p.Leu1366=) c.3727C= (p.Leu1243=) n.4096C= | |
13 | g.32338451C>G | CA387779237 | BRCA2 | c.4096C>G (p.Leu1366Val) c.3727C>G (p.Leu1243Val) n.4096C>G | ClinVar dbSNP |
13 | g.32338451C>T | CA387779238 | BRCA2 | c.4096C>T (p.Leu1366Phe) c.3727C>T (p.Leu1243Phe) n.4096C>T | |
13 | g.32338451_32338456delinsCTTAAA | CA2082823864 | BRCA2 | c.4096_4101delinsCTTAAA (p.Leu1366=) c.3727_3732delinsCTTAAA (p.Leu1243=) n.4096_4101delinsCTTAAA | |
13 | g.32338452T>A | CA387779241 | BRCA2 | c.4097T>A (p.Leu1366His) c.3728T>A (p.Leu1243His) n.4097T>A | dbSNP |
13 | g.32338452T>C | CA387779242 | BRCA2 | c.4097T>C (p.Leu1366Pro) c.3728T>C (p.Leu1243Pro) n.4097T>C | dbSNP |
13 | g.32338452T>G | CA387779243 | BRCA2 | c.4097T>G (p.Leu1366Arg) c.3728T>G (p.Leu1243Arg) n.4097T>G | |
13 | g.32338452T= | CA2082823874 | BRCA2 | c.4097T= (p.Leu1366=) c.3728T= (p.Leu1243=) n.4097T= | |
13 | g.32338455_32338459del | CA915948460 | BRCA2 | c.4100_4104del (p.Lys1367IlefsTer13) c.3731_3735del (p.Lys1244IlefsTer13) n.4100_4104del | ClinVar dbSNP |
13 | g.32338452_32338453insCATC | CA019522 | BRCA2 | c.4097_4098insCATC (p.Lys1367IlefsTer2) c.3728_3729insCATC (p.Lys1244IlefsTer2) n.4097_4098insCATC | ClinVar dbSNP |
13 | g.32338453T>A | CA483438203 | BRCA2 | c.4098T>A (p.Leu1366=) c.3729T>A (p.Leu1243=) n.4098T>A | |
13 | g.32338453T>C | CA483438204 | BRCA2 | c.4098T>C (p.Leu1366=) c.3729T>C (p.Leu1243=) n.4098T>C | dbSNP |
13 | g.32338453T>G | CA483438205 | BRCA2 | c.4098T>G (p.Leu1366=) c.3729T>G (p.Leu1243=) n.4098T>G | |
13 | g.32338453T= | CA2082823886 | BRCA2 | c.4098T= (p.Leu1366=) c.3729T= (p.Leu1243=) n.4098T= | |
13 | g.32338453_32338454delinsTA | CA2082823888 | BRCA2 | c.4098_4099delinsTA (p.Leu1366=) c.3729_3730delinsTA (p.Leu1243=) n.4098_4099delinsTA | |
13 | g.32338453_32338454insCATC | CA10589241 | BRCA2 | c.4098_4099insCATC (p.Lys1367HisfsTer16) c.3729_3730insCATC (p.Lys1244HisfsTer16) n.4098_4099insCATC | ClinVar dbSNP |
13 | g.32338454A>C | CA387779245 | BRCA2 | c.4099A>C (p.Lys1367Gln) c.3730A>C (p.Lys1244Gln) n.4099A>C | ClinVar |
13 | g.32338454A>G | CA387779249 | BRCA2 | c.4099A>G (p.Lys1367Glu) c.3730A>G (p.Lys1244Glu) n.4099A>G | dbSNP |
13 | g.32338454A>T | CA387779247 | BRCA2 | c.4099A>T (p.Lys1367Ter) c.3730A>T (p.Lys1244Ter) n.4099A>T | ClinVar dbSNP |
13 | g.32338456dup | CA019525 | BRCA2 | c.4101dup (p.Leu1368IlefsTer14) c.3732dup (p.Leu1245IlefsTer14) n.4101dup | ClinVar dbSNP |
13 | g.32338456del | CA019531 | BRCA2 | c.4101del (p.Lys1367AsnfsTer7) c.3732del (p.Lys1244AsnfsTer7) n.4101del | ClinVar dbSNP |
13 | g.32338455A>C | CA387779252 | BRCA2 | c.4100A>C (p.Lys1367Thr) c.3731A>C (p.Lys1244Thr) n.4100A>C | |
13 | g.32338455A>G | CA387779253 | BRCA2 | c.4100A>G (p.Lys1367Arg) c.3731A>G (p.Lys1244Arg) n.4100A>G | dbSNP gnomAD v4 |
13 | g.32338455A>T | CA387779255 | BRCA2 | c.4100A>T (p.Lys1367Ile) c.3731A>T (p.Lys1244Ile) n.4100A>T | dbSNP |
13 | g.32338456A= | CA2082823911 | BRCA2 | c.4101A= (p.Lys1367=) c.3732A= (p.Lys1244=) n.4101A= | |
13 | g.32338456A>C | CA387779256 | BRCA2 | c.4101A>C (p.Lys1367Asn) c.3732A>C (p.Lys1244Asn) n.4101A>C | |
13 | g.32338456A>G | CA019529 | BRCA2 | c.4101A>G (p.Lys1367=) c.3732A>G (p.Lys1244=) n.4101A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338456A>T | CA387779258 | BRCA2 | c.4101A>T (p.Lys1367Asn) c.3732A>T (p.Lys1244Asn) n.4101A>T | ClinVar dbSNP |
13 | g.32338456_32338457delinsAT | CA2082823916 | BRCA2 | c.4101_4102delinsAT (p.Lys1367=) c.3732_3733delinsAT (p.Lys1244=) n.4101_4102delinsAT | |
13 | g.32338460_32338496del | CA2825002135 | BRCA2 | c.4105_4141del (p.Ser1369LysfsTer7) c.3736_3772del (p.Ser1246LysfsTer7) n.4105_4141del | ClinVar |
13 | g.32338457T>A | CA387779260 | BRCA2 | c.4102T>A (p.Leu1368Ile) c.3733T>A (p.Leu1245Ile) n.4102T>A | |
13 | g.32338457T>C | CA6940746 | BRCA2 | c.4102T>C (p.Leu1368=) c.3733T>C (p.Leu1245=) n.4102T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338457T>G | CA387779262 | BRCA2 | c.4102T>G (p.Leu1368Val) c.3733T>G (p.Leu1245Val) n.4102T>G | |
13 | g.32338457T= | CA2082808403 | BRCA2 | c.4102T= (p.Leu1368=) c.3733T= (p.Leu1245=) n.4102T= | |
13 | g.32338457delinsGTC | CA2580087244 | BRCA2 | c.4102delinsGTC (p.Leu1368ValfsTer7) c.3733delinsGTC (p.Leu1245ValfsTer7) n.4102delinsGTC | ClinVar |
13 | g.32338458del | CA645509345 | BRCA2 | c.4103del (p.Leu1368TyrfsTer6) c.3734del (p.Leu1245TyrfsTer6) n.4103del | ClinVar dbSNP |
13 | g.32338458T>A | CA387779267 | BRCA2 | c.4103T>A (p.Leu1368Ter) c.3734T>A (p.Leu1245Ter) n.4103T>A | dbSNP |
13 | g.32338458T>C | CA387779266 | BRCA2 | c.4103T>C (p.Leu1368Ser) c.3734T>C (p.Leu1245Ser) n.4103T>C | ClinVar |
13 | g.32338458T>G | CA387779264 | BRCA2 | c.4103T>G (p.Leu1368Ter) c.3734T>G (p.Leu1245Ter) n.4103T>G | |
13 | g.32338458_32338459delinsTA | CA2082808405 | BRCA2 | c.4103_4104delinsTA (p.Leu1368=) c.3734_3735delinsTA (p.Leu1245=) n.4103_4104delinsTA | |
13 | g.32338459del | CA913190945 | BRCA2 | c.4104del (p.Leu1368PhefsTer6) c.3735del (p.Leu1245PhefsTer6) n.4104del | ClinVar dbSNP |
13 | g.32338459A>C | CA387779269 | BRCA2 | c.4104A>C (p.Leu1368Phe) c.3735A>C (p.Leu1245Phe) n.4104A>C | |
13 | g.32338459A>G | CA483438215 | BRCA2 | c.4104A>G (p.Leu1368=) c.3735A>G (p.Leu1245=) n.4104A>G | |
13 | g.32338459A>T | CA387779271 | BRCA2 | c.4104A>T (p.Leu1368Phe) c.3735A>T (p.Leu1245Phe) n.4104A>T | dbSNP |
13 | g.32338460T>A | CA387779273 | BRCA2 | c.4105T>A (p.Ser1369Thr) c.3736T>A (p.Ser1246Thr) n.4105T>A | dbSNP |
13 | g.32338460T>C | CA6940747 | BRCA2 | c.4105T>C (p.Ser1369Pro) c.3736T>C (p.Ser1246Pro) n.4105T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338460T>G | CA387779274 | BRCA2 | c.4105T>G (p.Ser1369Ala) c.3736T>G (p.Ser1246Ala) n.4105T>G | |
13 | g.32338460T= | CA2082808408 | BRCA2 | c.4105T= (p.Ser1369=) c.3736T= (p.Ser1246=) n.4105T= | |
13 | g.32338461C>A | CA387779277 | BRCA2 | c.4106C>A (p.Ser1369Tyr) c.3737C>A (p.Ser1246Tyr) n.4106C>A | dbSNP |
13 | g.32338461C= | CA2082808409 | BRCA2 | c.4106C= (p.Ser1369=) c.3737C= (p.Ser1246=) n.4106C= | |
13 | g.32338461C>G | CA387779278 | BRCA2 | c.4106C>G (p.Ser1369Cys) c.3737C>G (p.Ser1246Cys) n.4106C>G | |
13 | g.32338461C>T | CA387779280 | BRCA2 | c.4106C>T (p.Ser1369Phe) c.3737C>T (p.Ser1246Phe) n.4106C>T | ClinVar dbSNP |
13 | g.32338462T>A | CA483438220 | BRCA2 | c.4107T>A (p.Ser1369=) c.3738T>A (p.Ser1246=) n.4107T>A | |
13 | g.32338462T>C | CA483438221 | BRCA2 | c.4107T>C (p.Ser1369=) c.3738T>C (p.Ser1246=) n.4107T>C | |
13 | g.32338462T>G | CA483438222 | BRCA2 | c.4107T>G (p.Ser1369=) c.3738T>G (p.Ser1246=) n.4107T>G | ClinVar dbSNP |
13 | g.32338463G>A | CA387779281 | BRCA2 | c.4108G>A (p.Gly1370Ser) c.3739G>A (p.Gly1247Ser) n.4108G>A | dbSNP |
13 | g.32338463G>C | CA387779282 | BRCA2 | c.4108G>C (p.Gly1370Arg) c.3739G>C (p.Gly1247Arg) n.4108G>C | dbSNP |
13 | g.32338463G>T | CA387779284 | BRCA2 | c.4108G>T (p.Gly1370Cys) c.3739G>T (p.Gly1247Cys) n.4108G>T | dbSNP |
13 | g.32338464G>A | CA019535 | BRCA2 | c.4109G>A (p.Gly1370Asp) c.3740G>A (p.Gly1247Asp) n.4109G>A | ClinVar dbSNP |
13 | g.32338464G>C | CA019538 | BRCA2 | c.4109G>C (p.Gly1370Ala) c.3740G>C (p.Gly1247Ala) n.4109G>C | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.32338464G= | CA2082808411 | BRCA2 | c.4109G= (p.Gly1370=) c.3740G= (p.Gly1247=) n.4109G= | |
13 | g.32338464G>T | CA387779287 | BRCA2 | c.4109G>T (p.Gly1370Val) c.3740G>T (p.Gly1247Val) n.4109G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338465C>A | CA483438226 | BRCA2 | c.4110C>A (p.Gly1370=) c.3741C>A (p.Gly1247=) n.4110C>A | ClinVar dbSNP |
13 | g.32338465C= | CA2082808415 | BRCA2 | c.4110C= (p.Gly1370=) c.3741C= (p.Gly1247=) n.4110C= | |
13 | g.32338465C>G | CA483438227 | BRCA2 | c.4110C>G (p.Gly1370=) c.3741C>G (p.Gly1247=) n.4110C>G | dbSNP |
13 | g.32338465C>T | CA6940748 | BRCA2 | c.4110C>T (p.Gly1370=) c.3741C>T (p.Gly1247=) n.4110C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338466C>A | CA387779289 | BRCA2 | c.4111C>A (p.Gln1371Lys) c.3742C>A (p.Gln1248Lys) n.4111C>A | dbSNP |
13 | g.32338466C= | CA2082808417 | BRCA2 | c.4111C= (p.Gln1371=) c.3742C= (p.Gln1248=) n.4111C= | |
13 | g.32338466C>G | CA387779290 | BRCA2 | c.4111C>G (p.Gln1371Glu) c.3742C>G (p.Gln1248Glu) n.4111C>G | dbSNP |
13 | g.32338466C>T | CA019545 | BRCA2 | c.4111C>T (p.Gln1371Ter) c.3742C>T (p.Gln1248Ter) n.4111C>T | ClinVar dbSNP |
13 | g.32338467A= | CA2082808419 | BRCA2 | c.4112A= (p.Gln1371=) c.3743A= (p.Gln1248=) n.4112A= | |
13 | g.32338467A>C | CA387779293 | BRCA2 | c.4112A>C (p.Gln1371Pro) c.3743A>C (p.Gln1248Pro) n.4112A>C | |
13 | g.32338467A>G | CA387779294 | BRCA2 | c.4112A>G (p.Gln1371Arg) c.3743A>G (p.Gln1248Arg) n.4112A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338467A>T | CA387779296 | BRCA2 | c.4112A>T (p.Gln1371Leu) c.3743A>T (p.Gln1248Leu) n.4112A>T | dbSNP |
13 | g.32338467dup | CA019549 | BRCA2 | c.4112dup (p.Phe1372ValfsTer10) c.3743dup (p.Phe1249ValfsTer10) n.4112dup | ClinVar dbSNP |
13 | g.32338468G>A | CA483438231 | BRCA2 | c.4113G>A (p.Gln1371=) c.3744G>A (p.Gln1248=) n.4113G>A | ClinVar |
13 | g.32338468G>C | CA387779298 | BRCA2 | c.4113G>C (p.Gln1371His) c.3744G>C (p.Gln1248His) n.4113G>C | ClinVar dbSNP |
13 | g.32338468G= | CA2082808421 | BRCA2 | c.4113G= (p.Gln1371=) c.3744G= (p.Gln1248=) n.4113G= | |
13 | g.32338468G>T | CA387779299 | BRCA2 | c.4113G>T (p.Gln1371His) c.3744G>T (p.Gln1248His) n.4113G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338469T>A | CA348262 | BRCA2 | c.4114T>A (p.Phe1372Ile) c.3745T>A (p.Phe1249Ile) n.4114T>A | ClinVar dbSNP |
13 | g.32338469T>C | CA387779301 | BRCA2 | c.4114T>C (p.Phe1372Leu) c.3745T>C (p.Phe1249Leu) n.4114T>C | ClinVar |
13 | g.32338469T>G | CA387779303 | BRCA2 | c.4114T>G (p.Phe1372Val) c.3745T>G (p.Phe1249Val) n.4114T>G | |
13 | g.32338469T= | CA2082808423 | BRCA2 | c.4114T= (p.Phe1372=) c.3745T= (p.Phe1249=) n.4114T= | |
13 | g.32338471del | CA2825002136 | BRCA2 | c.4116del (p.Phe1372LeufsTer2) c.3747del (p.Phe1249LeufsTer2) n.4116del | ClinVar |
13 | g.32338470_32338473del | CA2580087245 | BRCA2 | c.4115_4118del (p.Phe1372Ter) c.3746_3749del (p.Phe1249Ter) n.4115_4118del | ClinVar |
13 | g.32338470T>A | CA387779304 | BRCA2 | c.4115T>A (p.Phe1372Tyr) c.3746T>A (p.Phe1249Tyr) n.4115T>A | ClinVar dbSNP |
13 | g.32338470T>C | CA387779306 | BRCA2 | c.4115T>C (p.Phe1372Ser) c.3746T>C (p.Phe1249Ser) n.4115T>C | |
13 | g.32338470T>G | CA387779307 | BRCA2 | c.4115T>G (p.Phe1372Cys) c.3746T>G (p.Phe1249Cys) n.4115T>G | gnomAD v4 |
13 | g.32338470T= | CA2082808426 | BRCA2 | c.4115T= (p.Phe1372=) c.3746T= (p.Phe1249=) n.4115T= | |
13 | g.32338470_32338471insC | CA2580614675 | BRCA2 | c.4115_4116insC (p.Met1373TyrfsTer9) c.3746_3747insC (p.Met1250TyrfsTer9) n.4115_4116insC | ClinVar |
13 | g.32338471T>A | CA387779308 | BRCA2 | c.4116T>A (p.Phe1372Leu) c.3747T>A (p.Phe1249Leu) n.4116T>A | dbSNP |
13 | g.32338471T>C | CA483438234 | BRCA2 | c.4116T>C (p.Phe1372=) c.3747T>C (p.Phe1249=) n.4116T>C | ClinVar |
13 | g.32338471T>G | CA019554 | BRCA2 | c.4116T>G (p.Phe1372Leu) c.3747T>G (p.Phe1249Leu) n.4116T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338471T= | CA2082808428 | BRCA2 | c.4116T= (p.Phe1372=) c.3747T= (p.Phe1249=) n.4116T= | |
13 | g.32338472_32338473del | CA2573149366 | BRCA2 | c.4117_4118del (p.Met1373GlufsTer8) c.3748_3749del (p.Met1250GlufsTer8) n.4117_4118del | ClinVar dbSNP |
13 | g.32338472A= | CA2082808436 | BRCA2 | c.4117A= (p.Met1373=) c.3748A= (p.Met1250=) n.4117A= | |
13 | g.32338472A>C | CA387779313 | BRCA2 | c.4117A>C (p.Met1373Leu) c.3748A>C (p.Met1250Leu) n.4117A>C | |
13 | g.32338472A>G | CA6940749 | BRCA2 | c.4117A>G (p.Met1373Val) c.3748A>G (p.Met1250Val) n.4117A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338472A>T | CA387779315 | BRCA2 | c.4117A>T (p.Met1373Leu) c.3748A>T (p.Met1250Leu) n.4117A>T | ClinVar dbSNP |
13 | g.32338472dup | CA658798081 | BRCA2 | c.4117dup (p.Met1373AsnfsTer9) c.3748dup (p.Met1250AsnfsTer9) n.4117dup | ClinVar dbSNP |
13 | g.32338472_32338482delinsT | CA2695199715 | BRCA2 | c.4117_4127delinsT (p.Met1373Ter) c.3748_3758delinsT (p.Met1250Ter) n.4117_4127delinsT | ClinVar |
13 | g.32338473T>A | CA387779318 | BRCA2 | c.4118T>A (p.Met1373Lys) c.3749T>A (p.Met1250Lys) n.4118T>A | |
13 | g.32338473T>C | CA6940751 | BRCA2 | c.4118T>C (p.Met1373Thr) c.3749T>C (p.Met1250Thr) n.4118T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338473T>G | CA6940750 | BRCA2 | c.4118T>G (p.Met1373Arg) c.3749T>G (p.Met1250Arg) n.4118T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338473T= | CA2082808449 | BRCA2 | c.4118T= (p.Met1373=) c.3749T= (p.Met1250=) n.4118T= | |
13 | g.32338474G>A | CA387779321 | BRCA2 | c.4119G>A (p.Met1373Ile) c.3750G>A (p.Met1250Ile) n.4119G>A | dbSNP |
13 | g.32338474G>C | CA387779323 | BRCA2 | c.4119G>C (p.Met1373Ile) c.3750G>C (p.Met1250Ile) n.4119G>C | dbSNP |
13 | g.32338474G>T | CA387779324 | BRCA2 | c.4119G>T (p.Met1373Ile) c.3750G>T (p.Met1250Ile) n.4119G>T | |
13 | g.32338474_32338475delinsGA | CA2082808455 | BRCA2 | c.4119_4120delinsGA (p.Met1373=) c.3750_3751delinsGA (p.Met1250=) n.4119_4120delinsGA | |
13 | g.32338475A= | CA2082808467 | BRCA2 | c.4120A= (p.Lys1374=) c.3751A= (p.Lys1251=) n.4120A= | |
13 | g.32338475A>C | CA387779329 | BRCA2 | c.4120A>C (p.Lys1374Gln) c.3751A>C (p.Lys1251Gln) n.4120A>C | ClinVar dbSNP |
13 | g.32338475A>G | CA349211 | BRCA2 | c.4120A>G (p.Lys1374Glu) c.3751A>G (p.Lys1251Glu) n.4120A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338475A>T | CA387779326 | BRCA2 | c.4120A>T (p.Lys1374Ter) c.3751A>T (p.Lys1251Ter) n.4120A>T | dbSNP |
13 | g.32338476del | CA019557 | BRCA2 | c.4121del (p.Lys1374ArgfsTer14) c.3752del (p.Lys1251ArgfsTer14) n.4121del | ClinVar dbSNP |
13 | g.32338476A>C | CA387779330 | BRCA2 | c.4121A>C (p.Lys1374Thr) c.3752A>C (p.Lys1251Thr) n.4121A>C | |
13 | g.32338476A>G | CA387779332 | BRCA2 | c.4121A>G (p.Lys1374Arg) c.3752A>G (p.Lys1251Arg) n.4121A>G | |
13 | g.32338476A>T | CA387779334 | BRCA2 | c.4121A>T (p.Lys1374Met) c.3752A>T (p.Lys1251Met) n.4121A>T | |
13 | g.32338477G>A | CA483438240 | BRCA2 | c.4122G>A (p.Lys1374=) c.3753G>A (p.Lys1251=) n.4122G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338477G>C | CA387779335 | BRCA2 | c.4122G>C (p.Lys1374Asn) c.3753G>C (p.Lys1251Asn) n.4122G>C | dbSNP |
13 | g.32338477G>T | CA387779337 | BRCA2 | c.4122G>T (p.Lys1374Asn) c.3753G>T (p.Lys1251Asn) n.4122G>T | dbSNP |
13 | g.32338478G>A | CA387779341 | BRCA2 | c.4123G>A (p.Glu1375Lys) c.3754G>A (p.Glu1252Lys) n.4123G>A | ClinVar dbSNP |
13 | g.32338478G>C | CA387779338 | BRCA2 | c.4123G>C (p.Glu1375Gln) c.3754G>C (p.Glu1252Gln) n.4123G>C | dbSNP |
13 | g.32338478G>T | CA387779340 | BRCA2 | c.4123G>T (p.Glu1375Ter) c.3754G>T (p.Glu1252Ter) n.4123G>T | dbSNP |
13 | g.32338478_32338479delinsGA | CA2082808474 | BRCA2 | c.4123_4124delinsGA (p.Glu1375=) c.3754_3755delinsGA (p.Glu1252=) n.4123_4124delinsGA | |
13 | g.32338480_32338493del | CA2740097654 | BRCA2 | c.4125_4138del (p.Glu1375AspfsTer2) c.3756_3769del (p.Glu1252AspfsTer2) n.4125_4138del | ClinVar |
13 | g.32338479del | CA10589242 | BRCA2 | c.4124del (p.Glu1375GlyfsTer13) c.3755del (p.Glu1252GlyfsTer13) n.4124del | ClinVar dbSNP |
13 | g.32338479A= | CA2082808483 | BRCA2 | c.4124A= (p.Glu1375=) c.3755A= (p.Glu1252=) n.4124A= | |
13 | g.32338479A>C | CA387779343 | BRCA2 | c.4124A>C (p.Glu1375Ala) c.3755A>C (p.Glu1252Ala) n.4124A>C | |
13 | g.32338479A>G | CA387779345 | BRCA2 | c.4124A>G (p.Glu1375Gly) c.3755A>G (p.Glu1252Gly) n.4124A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338479A>T | CA387779346 | BRCA2 | c.4124A>T (p.Glu1375Val) c.3755A>T (p.Glu1252Val) n.4124A>T | |
13 | g.32338480G>A | CA483438245 | BRCA2 | c.4125G>A (p.Glu1375=) c.3756G>A (p.Glu1252=) n.4125G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338480G>C | CA387779348 | BRCA2 | c.4125G>C (p.Glu1375Asp) c.3756G>C (p.Glu1252Asp) n.4125G>C | dbSNP |
13 | g.32338480G= | CA2082808498 | BRCA2 | c.4125G= (p.Glu1375=) c.3756G= (p.Glu1252=) n.4125G= | |
13 | g.32338480G>T | CA387779350 | BRCA2 | c.4125G>T (p.Glu1375Asp) c.3756G>T (p.Glu1252Asp) n.4125G>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338481G>A | CA387779352 | BRCA2 | c.4126G>A (p.Gly1376Arg) c.3757G>A (p.Gly1253Arg) n.4126G>A | dbSNP COSMIC COSMIC |
13 | g.32338481G>C | CA387779354 | BRCA2 | c.4126G>C (p.Gly1376Arg) c.3757G>C (p.Gly1253Arg) n.4126G>C | dbSNP gnomAD v4 |
13 | g.32338481G>T | CA387779355 | BRCA2 | c.4126G>T (p.Gly1376Ter) c.3757G>T (p.Gly1253Ter) n.4126G>T | ClinVar dbSNP |
13 | g.32338481_32338485delinsGGAAA | CA2082808506 | BRCA2 | c.4126_4130delinsGGAAA (p.Gly1376=) c.3757_3761delinsGGAAA (p.Gly1253=) n.4126_4130delinsGGAAA | |
13 | g.32338482G>A | CA387779357 | BRCA2 | c.4127G>A (p.Gly1376Glu) c.3758G>A (p.Gly1253Glu) n.4127G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32338482G>C | CA387779359 | BRCA2 | c.4127G>C (p.Gly1376Ala) c.3758G>C (p.Gly1253Ala) n.4127G>C | gnomAD v4 |
13 | g.32338482G= | CA2082808527 | BRCA2 | c.4127G= (p.Gly1376=) c.3758G= (p.Gly1253=) n.4127G= | |
13 | g.32338482G>T | CA6940752 | BRCA2 | c.4127G>T (p.Gly1376Val) c.3758G>T (p.Gly1253Val) n.4127G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338482_32338483delinsGA | CA2082808531 | BRCA2 | c.4127_4128delinsGA (p.Gly1376=) c.3758_3759delinsGA (p.Gly1253=) n.4127_4128delinsGA | |
13 | g.32338482_32338485del | CA019561 | BRCA2 | c.4127_4130del (p.Gly1376AlafsTer11) c.3758_3761del (p.Gly1253AlafsTer11) n.4127_4130del | ClinVar dbSNP |
13 | g.32338483A= | CA2082808558 | BRCA2 | c.4128A= (p.Gly1376=) c.3759A= (p.Gly1253=) n.4128A= | |
13 | g.32338483A>C | CA483438250 | BRCA2 | c.4128A>C (p.Gly1376=) c.3759A>C (p.Gly1253=) n.4128A>C | |
13 | g.32338483A>G | CA483438248 | BRCA2 | c.4128A>G (p.Gly1376=) c.3759A>G (p.Gly1253=) n.4128A>G | |
13 | g.32338483A>T | CA483438249 | BRCA2 | c.4128A>T (p.Gly1376=) c.3759A>T (p.Gly1253=) n.4128A>T | ClinVar dbSNP |
13 | g.32338485del | CA019568 | BRCA2 | c.4130del (p.Asn1377ThrfsTer11) c.3761del (p.Asn1254ThrfsTer11) n.4130del | ClinVar dbSNP |
13 | g.32338484A= | CA2082808567 | BRCA2 | c.4129A= (p.Asn1377=) c.3760A= (p.Asn1254=) n.4129A= | |
13 | g.32338484A>C | CA387779362 | BRCA2 | c.4129A>C (p.Asn1377His) c.3760A>C (p.Asn1254His) n.4129A>C | |
13 | g.32338484A>G | CA387779364 | BRCA2 | c.4129A>G (p.Asn1377Asp) c.3760A>G (p.Asn1254Asp) n.4129A>G | ClinVar dbSNP |
13 | g.32338484A>T | CA387779366 | BRCA2 | c.4129A>T (p.Asn1377Tyr) c.3760A>T (p.Asn1254Tyr) n.4129A>T | dbSNP |
13 | g.32338485A= | CA2082808578 | BRCA2 | c.4130A= (p.Asn1377=) c.3761A= (p.Asn1254=) n.4130A= | |
13 | g.32338485A>C | CA387779368 | BRCA2 | c.4130A>C (p.Asn1377Thr) c.3761A>C (p.Asn1254Thr) n.4130A>C | |
13 | g.32338485A>G | CA6940753 | BRCA2 | c.4130A>G (p.Asn1377Ser) c.3761A>G (p.Asn1254Ser) n.4130A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338485A>T | CA387779372 | BRCA2 | c.4130A>T (p.Asn1377Ile) c.3761A>T (p.Asn1254Ile) n.4130A>T | ClinVar dbSNP |
13 | g.32338485_32338486insTGAGGA | CA2695218196 | BRCA2 | c.4130_4131insTGAGGA (p.Asn1377_Thr1378insGluAsp) c.3761_3762insTGAGGA (p.Asn1254_Thr1255insGluAsp) n.4130_4131insTGAGGA | |
13 | g.32338487_32338488del | CA2695218195 | BRCA2 | c.4132_4133del (p.Thr1378SerfsTer3) c.3763_3764del (p.Thr1255SerfsTer3) n.4132_4133del | |
13 | g.32338485_32338489delinsACACT | CA2082808575 | BRCA2 | c.4130_4134delinsACACT (p.Asn1377=) c.3761_3765delinsACACT (p.Asn1254=) n.4130_4134delinsACACT | |
13 | g.32338486C>A | CA387779373 | BRCA2 | c.4131C>A (p.Asn1377Lys) c.3762C>A (p.Asn1254Lys) n.4131C>A | dbSNP |
13 | g.32338486C= | CA2082808607 | BRCA2 | c.4131C= (p.Asn1377=) c.3762C= (p.Asn1254=) n.4131C= | |
13 | g.32338486C>G | CA387779375 | BRCA2 | c.4131C>G (p.Asn1377Lys) c.3762C>G (p.Asn1254Lys) n.4131C>G | dbSNP |
13 | g.32338486C>T | CA483438253 | BRCA2 | c.4131C>T (p.Asn1377=) c.3762C>T (p.Asn1254=) n.4131C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338488_32338491del | CA019576 | BRCA2 | c.4133_4136del (p.Thr1378ArgfsTer9) c.3764_3767del (p.Thr1255ArgfsTer9) n.4133_4136del | ClinVar dbSNP |
13 | g.32338486_32338487insTGAGGA | CA019572 | BRCA2 | c.4131_4132insTGAGGA c.3762_3763insTGAGGA n.4131_4132insTGAGGA | ClinVar dbSNP gnomAD v4 |
13 | g.32338487del | CA2573149368 | BRCA2 | c.4132del (p.Thr1378LeufsTer10) c.3763del (p.Thr1255LeufsTer10) n.4132del | ClinVar dbSNP |
13 | g.32338487A= | CA2082808618 | BRCA2 | c.4132A= (p.Thr1378=) c.3763A= (p.Thr1255=) n.4132A= | |
13 | g.32338487A>C | CA387779377 | BRCA2 | c.4132A>C (p.Thr1378Pro) c.3763A>C (p.Thr1255Pro) n.4132A>C | |
13 | g.32338487A>G | CA387779380 | BRCA2 | c.4132A>G (p.Thr1378Ala) c.3763A>G (p.Thr1255Ala) n.4132A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338487A>T | CA387779379 | BRCA2 | c.4132A>T (p.Thr1378Ser) c.3763A>T (p.Thr1255Ser) n.4132A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338487dup | CA2695218197 | BRCA2 | c.4132dup (p.Thr1378AsnfsTer4) c.3763dup (p.Thr1255AsnfsTer4) n.4132dup | |
13 | g.32338488C>A | CA247506544 | BRCA2 | c.4133C>A (p.Thr1378Asn) c.3764C>A (p.Thr1255Asn) n.4133C>A | ClinVar dbSNP |
13 | g.32338488C= | CA2082808647 | BRCA2 | c.4133C= (p.Thr1378=) c.3764C= (p.Thr1255=) n.4133C= | |
13 | g.32338488C>G | CA387779382 | BRCA2 | c.4133C>G (p.Thr1378Ser) c.3764C>G (p.Thr1255Ser) n.4133C>G | dbSNP |
13 | g.32338488C>T | CA387779384 | BRCA2 | c.4133C>T (p.Thr1378Ile) c.3764C>T (p.Thr1255Ile) n.4133C>T | ClinVar dbSNP |
13 | g.32338489_32338490del | CA2697551726 | BRCA2 | c.4134_4135del (p.Gln1379AspfsTer2) c.3765_3766del (p.Gln1256AspfsTer2) n.4134_4135del | ClinVar |
13 | g.32338489T>A | CA483438255 | BRCA2 | c.4134T>A (p.Thr1378=) c.3765T>A (p.Thr1255=) n.4134T>A | dbSNP |
13 | g.32338489T>C | CA483438256 | BRCA2 | c.4134T>C (p.Thr1378=) c.3765T>C (p.Thr1255=) n.4134T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338489T>G | CA483438257 | BRCA2 | c.4134T>G (p.Thr1378=) c.3765T>G (p.Thr1255=) n.4134T>G | ClinVar dbSNP |
13 | g.32338489T= | CA2082808654 | BRCA2 | c.4134T= (p.Thr1378=) c.3765T= (p.Thr1255=) n.4134T= | |
13 | g.32338489_32338490delinsTC | CA2082808658 | BRCA2 | c.4134_4135delinsTC (p.Thr1378=) c.3765_3766delinsTC (p.Thr1255=) n.4134_4135delinsTC | |
13 | g.32338490del | CA658653662 | BRCA2 | c.4135del (p.Gln1379ArgfsTer9) c.3766del (p.Gln1256ArgfsTer9) n.4135del | ClinVar dbSNP |
13 | g.32338490C>A | CA387779387 | BRCA2 | c.4135C>A (p.Gln1379Lys) c.3766C>A (p.Gln1256Lys) n.4135C>A | ClinVar dbSNP |
13 | g.32338490C= | CA2082808685 | BRCA2 | c.4135C= (p.Gln1379=) c.3766C= (p.Gln1256=) n.4135C= | |
13 | g.32338490C>G | CA387779390 | BRCA2 | c.4135C>G (p.Gln1379Glu) c.3766C>G (p.Gln1256Glu) n.4135C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338490C>T | CA387779388 | BRCA2 | c.4135C>T (p.Gln1379Ter) c.3766C>T (p.Gln1256Ter) n.4135C>T | ClinVar dbSNP |
13 | g.32338490_32338495delinsCAGATT | CA2082808682 | BRCA2 | c.4135_4140delinsCAGATT (p.Gln1379=) c.3766_3771delinsCAGATT (p.Gln1256=) n.4135_4140delinsCAGATT | |
13 | g.32338491A>C | CA387779392 | BRCA2 | c.4136A>C (p.Gln1379Pro) c.3767A>C (p.Gln1256Pro) n.4136A>C | |
13 | g.32338491A>G | CA387779394 | BRCA2 | c.4136A>G (p.Gln1379Arg) c.3767A>G (p.Gln1256Arg) n.4136A>G | dbSNP gnomAD v4 COSMIC |
13 | g.32338491A>T | CA387779396 | BRCA2 | c.4136A>T (p.Gln1379Leu) c.3767A>T (p.Gln1256Leu) n.4136A>T | dbSNP |
13 | g.32338491dup | CA019581 | BRCA2 | c.4136dup (p.Ile1380AspfsTer2) c.3767dup (p.Ile1257AspfsTer2) n.4136dup | ClinVar dbSNP |
13 | g.32338492_32338496del | CA019585 | BRCA2 | c.4137_4141del (p.Ile1380ArgfsTer21) c.3768_3772del (p.Ile1257ArgfsTer21) n.4137_4141del | ClinVar dbSNP |
13 | g.32338492G>A | CA6940754 | BRCA2 | c.4137G>A (p.Gln1379=) c.3768G>A (p.Gln1256=) n.4137G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338492G>C | CA387779398 | BRCA2 | c.4137G>C (p.Gln1379His) c.3768G>C (p.Gln1256His) n.4137G>C | ClinVar dbSNP |
13 | g.32338492G= | CA2082808698 | BRCA2 | c.4137G= (p.Gln1379=) c.3768G= (p.Gln1256=) n.4137G= | |
13 | g.32338492G>T | CA387779399 | BRCA2 | c.4137G>T (p.Gln1379His) c.3768G>T (p.Gln1256His) n.4137G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338493A= | CA2082808710 | BRCA2 | c.4138A= (p.Ile1380=) c.3769A= (p.Ile1257=) n.4138A= | |
13 | g.32338493A>C | CA387779400 | BRCA2 | c.4138A>C (p.Ile1380Leu) c.3769A>C (p.Ile1257Leu) n.4138A>C | |
13 | g.32338493A>G | CA387779402 | BRCA2 | c.4138A>G (p.Ile1380Val) c.3769A>G (p.Ile1257Val) n.4138A>G | ClinVar dbSNP |
13 | g.32338493A>T | CA387779404 | BRCA2 | c.4138A>T (p.Ile1380Phe) c.3769A>T (p.Ile1257Phe) n.4138A>T | dbSNP |
13 | g.32338494T>A | CA387779410 | BRCA2 | c.4139T>A (p.Ile1380Asn) c.3770T>A (p.Ile1257Asn) n.4139T>A | dbSNP |
13 | g.32338494T>C | CA387779411 | BRCA2 | c.4139T>C (p.Ile1380Thr) c.3770T>C (p.Ile1257Thr) n.4139T>C | ClinVar dbSNP |
13 | g.32338494T>G | CA387779408 | BRCA2 | c.4139T>G (p.Ile1380Ser) c.3770T>G (p.Ile1257Ser) n.4139T>G | |
13 | g.32338494_32338495dup | CA019589 | BRCA2 | c.4139_4140dup (p.Lys1381LeufsTer8) c.3770_3771dup (p.Lys1258LeufsTer8) n.4139_4140dup | ClinVar dbSNP |
13 | g.32338495T>A | CA483438259 | BRCA2 | c.4140T>A (p.Ile1380=) c.3771T>A (p.Ile1257=) n.4140T>A | |
13 | g.32338495T>C | CA483438260 | BRCA2 | c.4140T>C (p.Ile1380=) c.3771T>C (p.Ile1257=) n.4140T>C | |
13 | g.32338495T>G | CA019602 | BRCA2 | c.4140T>G (p.Ile1380Met) c.3771T>G (p.Ile1257Met) n.4140T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338495T= | CA2082808739 | BRCA2 | c.4140T= (p.Ile1380=) c.3771T= (p.Ile1257=) n.4140T= | |
13 | g.32338495_32338498delinsTAAA | CA2082808729 | BRCA2 | c.4140_4143delinsTAAA (p.Ile1380=) c.3771_3774delinsTAAA (p.Ile1257=) n.4140_4143delinsTAAA | |
13 | g.32338496A>C | CA387779413 | BRCA2 | c.4141A>C (p.Lys1381Gln) c.3772A>C (p.Lys1258Gln) n.4141A>C | |
13 | g.32338496A>G | CA387779415 | BRCA2 | c.4141A>G (p.Lys1381Glu) c.3772A>G (p.Lys1258Glu) n.4141A>G | ClinVar gnomAD v4 |
13 | g.32338496A>T | CA387779416 | BRCA2 | c.4141A>T (p.Lys1381Ter) c.3772A>T (p.Lys1258Ter) n.4141A>T | dbSNP |
13 | g.32338496_32338498del | CA019606 | BRCA2 | c.4141_4143del (p.Lys1381del) c.3772_3774del (p.Lys1258del) n.4141_4143del | ClinVar dbSNP gnomAD v4 |
13 | g.32338496_32338499delinsAAAG | CA2082808748 | BRCA2 | c.4141_4144delinsAAAG (p.Lys1381=) c.3772_3775delinsAAAG (p.Lys1258=) n.4141_4144delinsAAAG | |
13 | g.32338497A= | CA2082808754 | BRCA2 | c.4142A= (p.Lys1381=) c.3773A= (p.Lys1258=) n.4142A= | |
13 | g.32338497A>C | CA387779420 | BRCA2 | c.4142A>C (p.Lys1381Thr) c.3773A>C (p.Lys1258Thr) n.4142A>C | dbSNP |
13 | g.32338497A>G | CA387779422 | BRCA2 | c.4142A>G (p.Lys1381Arg) c.3773A>G (p.Lys1258Arg) n.4142A>G | ClinVar dbSNP |
13 | g.32338497A>T | CA387779424 | BRCA2 | c.4142A>T (p.Lys1381Ile) c.3773A>T (p.Lys1258Ile) n.4142A>T | dbSNP |
13 | g.32338501_32338503del | CA019610 | BRCA2 | c.4146_4148del (p.Glu1382del) c.3777_3779del (p.Glu1259del) n.4146_4148del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338498A>C | CA387779427 | BRCA2 | c.4143A>C (p.Lys1381Asn) c.3774A>C (p.Lys1258Asn) n.4143A>C | |
13 | g.32338498A>G | CA483438264 | BRCA2 | c.4143A>G (p.Lys1381=) c.3774A>G (p.Lys1258=) n.4143A>G | ClinVar |
13 | g.32338498A>T | CA387779429 | BRCA2 | c.4143A>T (p.Lys1381Asn) c.3774A>T (p.Lys1258Asn) n.4143A>T | dbSNP |
13 | g.32338499G>A | CA387779961 | BRCA2 | c.4144G>A (p.Glu1382Lys) c.3775G>A (p.Glu1259Lys) n.4144G>A | dbSNP COSMIC COSMIC |
13 | g.32338499G>C | CA387779965 | BRCA2 | c.4144G>C (p.Glu1382Gln) c.3775G>C (p.Glu1259Gln) n.4144G>C | dbSNP |
13 | g.32338499G>T | CA387779962 | BRCA2 | c.4144G>T (p.Glu1382Ter) c.3775G>T (p.Glu1259Ter) n.4144G>T | ClinVar |
13 | g.32338500A= | CA2082808764 | BRCA2 | c.4145A= (p.Glu1382=) c.3776A= (p.Glu1259=) n.4145A= | |
13 | g.32338500A>C | CA387779967 | BRCA2 | c.4145A>C (p.Glu1382Ala) c.3776A>C (p.Glu1259Ala) n.4145A>C | |
13 | g.32338500A>G | CA387779969 | BRCA2 | c.4145A>G (p.Glu1382Gly) c.3776A>G (p.Glu1259Gly) n.4145A>G | ClinVar dbSNP |
13 | g.32338500A>T | CA387779971 | BRCA2 | c.4145A>T (p.Glu1382Val) c.3776A>T (p.Glu1259Val) n.4145A>T | dbSNP |
13 | g.32338500_32338504delinsAAGAT | CA2082808763 | BRCA2 | c.4145_4149delinsAAGAT (p.Glu1382=) c.3776_3780delinsAAGAT (p.Glu1259=) n.4145_4149delinsAAGAT | |
13 | g.32338501A= | CA2082808786 | BRCA2 | c.4146A= (p.Glu1382=) c.3777A= (p.Glu1259=) n.4146A= | |
13 | g.32338501A>C | CA387779973 | BRCA2 | c.4146A>C (p.Glu1382Asp) c.3777A>C (p.Glu1259Asp) n.4146A>C | COSMIC COSMIC |
13 | g.32338501A>G | CA483437815 | BRCA2 | c.4146A>G (p.Glu1382=) c.3777A>G (p.Glu1259=) n.4146A>G | ClinVar gnomAD v4 |
13 | g.32338501A>T | CA387779975 | BRCA2 | c.4146A>T (p.Glu1382Asp) c.3777A>T (p.Glu1259Asp) n.4146A>T | dbSNP |
13 | g.32338501_32338504del | CA10589243 | BRCA2 | c.4146_4149del (p.Glu1382AspfsTer5) c.3777_3780del (p.Glu1259AspfsTer5) n.4146_4149del | ClinVar dbSNP |
13 | g.32338502G>A | CA019617 | BRCA2 | c.4147G>A (p.Asp1383Asn) c.3778G>A (p.Asp1260Asn) n.4147G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338502G>C | CA387779979 | BRCA2 | c.4147G>C (p.Asp1383His) c.3778G>C (p.Asp1260His) n.4147G>C | dbSNP |
13 | g.32338502G= | CA2082808805 | BRCA2 | c.4147G= (p.Asp1383=) c.3778G= (p.Asp1260=) n.4147G= | |
13 | g.32338502G>T | CA387779981 | BRCA2 | c.4147G>T (p.Asp1383Tyr) c.3778G>T (p.Asp1260Tyr) n.4147G>T | ClinVar dbSNP |
13 | g.32338502_32338504delinsGAT | CA2082808807 | BRCA2 | c.4147_4149delinsGAT (p.Asp1383=) c.3778_3780delinsGAT (p.Asp1260=) n.4147_4149delinsGAT | |
13 | g.32338503A>C | CA387779986 | BRCA2 | c.4148A>C (p.Asp1383Ala) c.3779A>C (p.Asp1260Ala) n.4148A>C | dbSNP |
13 | g.32338503A>G | CA387779988 | BRCA2 | c.4148A>G (p.Asp1383Gly) c.3779A>G (p.Asp1260Gly) n.4148A>G | dbSNP |
13 | g.32338503A>T | CA387779985 | BRCA2 | c.4148A>T (p.Asp1383Val) c.3779A>T (p.Asp1260Val) n.4148A>T | ClinVar dbSNP |
13 | g.32338503_32338504del | CA10575919 | BRCA2 | c.4148_4149del (p.Asp1383ValfsTer19) c.3779_3780del (p.Asp1260ValfsTer19) n.4148_4149del | ClinVar dbSNP |
13 | g.32338503_32338504delinsAT | CA2082808821 | BRCA2 | c.4148_4149delinsAT (p.Asp1383=) c.3779_3780delinsAT (p.Asp1260=) n.4148_4149delinsAT | |
13 | g.32338504T>A | CA387779990 | BRCA2 | c.4149T>A (p.Asp1383Glu) c.3780T>A (p.Asp1260Glu) n.4149T>A | dbSNP |
13 | g.32338504T>C | CA483437820 | BRCA2 | c.4149T>C (p.Asp1383=) c.3780T>C (p.Asp1260=) n.4149T>C | |
13 | g.32338504T>G | CA387779992 | BRCA2 | c.4149T>G (p.Asp1383Glu) c.3780T>G (p.Asp1260Glu) n.4149T>G | dbSNP |
13 | g.32338506dup | CA2825002138 | BRCA2 | c.4151dup (p.Leu1384PhefsTer19) c.3782dup (p.Leu1261PhefsTer19) n.4151dup | ClinVar |
13 | g.32338506del | CA019620 | BRCA2 | c.4151del (p.Leu1384CysfsTer4) c.3782del (p.Leu1261CysfsTer4) n.4151del | ClinVar dbSNP |
13 | g.32338505T>A | CA6940755 | BRCA2 | c.4150T>A (p.Leu1384Met) c.3781T>A (p.Leu1261Met) n.4150T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338505T>C | CA483437822 | BRCA2 | c.4150T>C (p.Leu1384=) c.3781T>C (p.Leu1261=) n.4150T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338505T>G | CA387779994 | BRCA2 | c.4150T>G (p.Leu1384Val) c.3781T>G (p.Leu1261Val) n.4150T>G | ClinVar dbSNP |
13 | g.32338505T= | CA2082808841 | BRCA2 | c.4150T= (p.Leu1384=) c.3781T= (p.Leu1261=) n.4150T= | |
13 | g.32338506T>A | CA019626 | BRCA2 | c.4151T>A (p.Leu1384Ter) c.3782T>A (p.Leu1261Ter) n.4151T>A | ClinVar dbSNP |
13 | g.32338506T>C | CA387779996 | BRCA2 | c.4151T>C (p.Leu1384Ser) c.3782T>C (p.Leu1261Ser) n.4151T>C | ClinVar gnomAD v4 |
13 | g.32338506T>G | CA387779998 | BRCA2 | c.4151T>G (p.Leu1384Trp) c.3782T>G (p.Leu1261Trp) n.4151T>G | |
13 | g.32338506T= | CA2082808870 | BRCA2 | c.4151T= (p.Leu1384=) c.3782T= (p.Leu1261=) n.4151T= | |
13 | g.32338507G>A | CA019628 | BRCA2 | c.4152G>A (p.Leu1384=) c.3783G>A (p.Leu1261=) n.4152G>A | ClinVar dbSNP |
13 | g.32338507G>C | CA387780001 | BRCA2 | c.4152G>C (p.Leu1384Phe) c.3783G>C (p.Leu1261Phe) n.4152G>C | ClinVar dbSNP |
13 | g.32338507G= | CA2082808875 | BRCA2 | c.4152G= (p.Leu1384=) c.3783G= (p.Leu1261=) n.4152G= | |
13 | g.32338507G>T | CA387780003 | BRCA2 | c.4152G>T (p.Leu1384Phe) c.3783G>T (p.Leu1261Phe) n.4152G>T | |
13 | g.32338508T>A | CA387780006 | BRCA2 | c.4153T>A (p.Ser1385Thr) c.3784T>A (p.Ser1262Thr) n.4153T>A | dbSNP |
13 | g.32338508T>C | CA387780009 | BRCA2 | c.4153T>C (p.Ser1385Pro) c.3784T>C (p.Ser1262Pro) n.4153T>C | dbSNP |
13 | g.32338508T>G | CA387780005 | BRCA2 | c.4153T>G (p.Ser1385Ala) c.3784T>G (p.Ser1262Ala) n.4153T>G | dbSNP |
13 | g.32338509C>A | CA10586520 | BRCA2 | c.4154C>A (p.Ser1385Ter) c.3785C>A (p.Ser1262Ter) n.4154C>A | ClinVar dbSNP |
13 | g.32338509C= | CA2082808893 | BRCA2 | c.4154C= (p.Ser1385=) c.3785C= (p.Ser1262=) n.4154C= | |
13 | g.32338509C>G | CA387780011 | BRCA2 | c.4154C>G (p.Ser1385Ter) c.3785C>G (p.Ser1262Ter) n.4154C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338509C>T | CA387780012 | BRCA2 | c.4154C>T (p.Ser1385Leu) c.3785C>T (p.Ser1262Leu) n.4154C>T | dbSNP |
13 | g.32338510A= | CA2082808898 | BRCA2 | c.4155A= (p.Ser1385=) c.3786A= (p.Ser1262=) n.4155A= | |
13 | g.32338510A>C | CA483437828 | BRCA2 | c.4155A>C (p.Ser1385=) c.3786A>C (p.Ser1262=) n.4155A>C | |
13 | g.32338510A>G | CA483437829 | BRCA2 | c.4155A>G (p.Ser1385=) c.3786A>G (p.Ser1262=) n.4155A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338510A>T | CA483437830 | BRCA2 | c.4155A>T (p.Ser1385=) c.3786A>T (p.Ser1262=) n.4155A>T | dbSNP |
13 | g.32338511G>A | CA387780015 | BRCA2 | c.4156G>A (p.Asp1386Asn) c.3787G>A (p.Asp1263Asn) n.4156G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338511G>C | CA387780017 | BRCA2 | c.4156G>C (p.Asp1386His) c.3787G>C (p.Asp1263His) n.4156G>C | dbSNP |
13 | g.32338511G= | CA2082808915 | BRCA2 | c.4156G= (p.Asp1386=) c.3787G= (p.Asp1263=) n.4156G= | |
13 | g.32338511G>T | CA387780018 | BRCA2 | c.4156G>T (p.Asp1386Tyr) c.3787G>T (p.Asp1263Tyr) n.4156G>T | ClinVar dbSNP COSMIC COSMIC |
13 | g.32338511_32338512delinsGA | CA2082808949 | BRCA2 | c.4156_4157delinsGA (p.Asp1386=) c.3787_3788delinsGA (p.Asp1263=) n.4156_4157delinsGA | |
13 | g.32338511_32338512delinsTG | CA1139663189 | BRCA2 | c.4156_4157delinsTG (p.Asp1386Cys) c.3787_3788delinsTG (p.Asp1263Cys) n.4156_4157delinsTG | ClinVar dbSNP |
13 | g.32338512A= | CA2082808967 | BRCA2 | c.4157A= (p.Asp1386=) c.3788A= (p.Asp1263=) n.4157A= | |
13 | g.32338512A>C | CA387780021 | BRCA2 | c.4157A>C (p.Asp1386Ala) c.3788A>C (p.Asp1263Ala) n.4157A>C | |
13 | g.32338512A>G | CA387780023 | BRCA2 | c.4157A>G (p.Asp1386Gly) c.3788A>G (p.Asp1263Gly) n.4157A>G | ClinVar dbSNP |
13 | g.32338512A>T | CA019633 | BRCA2 | c.4157A>T (p.Asp1386Val) c.3788A>T (p.Asp1263Val) n.4157A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338513T>A | CA387780025 | BRCA2 | c.4158T>A (p.Asp1386Glu) c.3789T>A (p.Asp1263Glu) n.4158T>A | dbSNP |
13 | g.32338513T>C | CA483437833 | BRCA2 | c.4158T>C (p.Asp1386=) c.3789T>C (p.Asp1263=) n.4158T>C | dbSNP |
13 | g.32338513T>G | CA387780027 | BRCA2 | c.4158T>G (p.Asp1386Glu) c.3789T>G (p.Asp1263Glu) n.4158T>G | dbSNP gnomAD v4 |
13 | g.32338514T>A | CA019635 | BRCA2 | c.4159T>A (p.Leu1387Ile) c.3790T>A (p.Leu1264Ile) n.4159T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338514T>C | CA483437835 | BRCA2 | c.4159T>C (p.Leu1387=) c.3790T>C (p.Leu1264=) n.4159T>C | |
13 | g.32338514T>G | CA387780031 | BRCA2 | c.4159T>G (p.Leu1387Val) c.3790T>G (p.Leu1264Val) n.4159T>G | dbSNP |
13 | g.32338514T= | CA2082808975 | BRCA2 | c.4159T= (p.Leu1387=) c.3790T= (p.Leu1264=) n.4159T= | |
13 | g.32338516_32338520del | CA2499222155 | BRCA2 | c.4161_4165del (p.Leu1387PhefsTer14) c.3792_3796del (p.Leu1264PhefsTer14) n.4161_4165del | |
13 | g.32338515T>A | CA387780038 | BRCA2 | c.4160T>A (p.Leu1387Ter) c.3791T>A (p.Leu1264Ter) n.4160T>A | dbSNP |
13 | g.32338515T>C | CA387780035 | BRCA2 | c.4160T>C (p.Leu1387Ser) c.3791T>C (p.Leu1264Ser) n.4160T>C | gnomAD v4 |
13 | g.32338515T>G | CA387780033 | BRCA2 | c.4160T>G (p.Leu1387Ter) c.3791T>G (p.Leu1264Ter) n.4160T>G | |
13 | g.32338515T= | CA2082808981 | BRCA2 | c.4160T= (p.Leu1387=) c.3791T= (p.Leu1264=) n.4160T= | |
13 | g.32338515_32338516insGG | CA2082808996 | BRCA2 | c.4160_4161insGG (p.Thr1388GlufsTer23) c.3791_3792insGG (p.Thr1265GlufsTer23) n.4160_4161insGG | dbSNP |
13 | g.32338515_32338516insTAA | CA2697551728 | BRCA2 | c.4160_4161insTAA (p.Leu1387delinsPheLys) c.3791_3792insTAA (p.Leu1264delinsPheLys) n.4160_4161insTAA | ClinVar |
13 | g.32338515_32338516insGGAAG | CA6940756 | BRCA2 | c.4160_4161insGGAAG (p.Thr1388GlufsTer24) c.3791_3792insGGAAG (p.Thr1265GlufsTer24) n.4160_4161insGGAAG | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338516A= | CA2082809010 | BRCA2 | c.4161A= (p.Leu1387=) c.3792A= (p.Leu1264=) n.4161A= | |
13 | g.32338516A>C | CA387780042 | BRCA2 | c.4161A>C (p.Leu1387Phe) c.3792A>C (p.Leu1264Phe) n.4161A>C | |
13 | g.32338516A>G | CA483437841 | BRCA2 | c.4161A>G (p.Leu1387=) c.3792A>G (p.Leu1264=) n.4161A>G | dbSNP |
13 | g.32338516A>T | CA387780040 | BRCA2 | c.4161A>T (p.Leu1387Phe) c.3792A>T (p.Leu1264Phe) n.4161A>T | dbSNP |
13 | g.32338516_32338521delinsAACTTT | CA2082809007 | BRCA2 | c.4161_4166delinsAACTTT (p.Leu1387=) c.3792_3797delinsAACTTT (p.Leu1264=) n.4161_4166delinsAACTTT | |
13 | g.32338517A= | CA2082809025 | BRCA2 | c.4162A= (p.Thr1388=) c.3793A= (p.Thr1265=) n.4162A= | |
13 | g.32338517A>C | CA387780044 | BRCA2 | c.4162A>C (p.Thr1388Pro) c.3793A>C (p.Thr1265Pro) n.4162A>C | ClinVar dbSNP |
13 | g.32338517A>G | CA387780047 | BRCA2 | c.4162A>G (p.Thr1388Ala) c.3793A>G (p.Thr1265Ala) n.4162A>G | |
13 | g.32338517A>T | CA387780048 | BRCA2 | c.4162A>T (p.Thr1388Ser) c.3793A>T (p.Thr1265Ser) n.4162A>T | |
13 | g.32338517_32338519delinsACT | CA2082809022 | BRCA2 | c.4162_4164delinsACT (p.Thr1388=) c.3793_3795delinsACT (p.Thr1265=) n.4162_4164delinsACT | |
13 | g.32338517_32338521del | CA6940757 | BRCA2 | c.4162_4166del (p.Thr1388PhefsTer13) c.3793_3797del (p.Thr1265PhefsTer13) n.4162_4166del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338518del | CA1139768323 | BRCA2 | c.4163del (p.Thr1388IlefsTer22) c.3794del (p.Thr1265IlefsTer22) n.4163del | ClinVar gnomAD v4 |
13 | g.32338518C>A | CA019646 | BRCA2 | c.4163C>A (p.Thr1388Asn) c.3794C>A (p.Thr1265Asn) n.4163C>A | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.32338518C= | CA2082809040 | BRCA2 | c.4163C= (p.Thr1388=) c.3794C= (p.Thr1265=) n.4163C= | |
13 | g.32338518C>G | CA387780049 | BRCA2 | c.4163C>G (p.Thr1388Ser) c.3794C>G (p.Thr1265Ser) n.4163C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338518C>T | CA387780051 | BRCA2 | c.4163C>T (p.Thr1388Ile) c.3794C>T (p.Thr1265Ile) n.4163C>T | |
13 | g.32338518_32338519delinsA | CA019640 | BRCA2 | c.4163_4164delinsA (p.Thr1388AsnfsTer22) c.3794_3795delinsA (p.Thr1265AsnfsTer22) n.4163_4164delinsA | ClinVar dbSNP |
13 | g.32338518_32338520delinsCTT | CA2082809048 | BRCA2 | c.4163_4165delinsCTT (p.Thr1388=) c.3794_3796delinsCTT (p.Thr1265=) n.4163_4165delinsCTT | |
13 | g.32338519T>A | CA247507333 | BRCA2 | c.4164T>A (p.Thr1388=) c.3795T>A (p.Thr1265=) n.4164T>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338519T>C | CA483437850 | BRCA2 | c.4164T>C (p.Thr1388=) c.3795T>C (p.Thr1265=) n.4164T>C | ClinVar dbSNP |
13 | g.32338519T>G | CA483437851 | BRCA2 | c.4164T>G (p.Thr1388=) c.3795T>G (p.Thr1265=) n.4164T>G | ClinVar |
13 | g.32338519T= | CA2082809073 | BRCA2 | c.4164T= (p.Thr1388=) c.3795T= (p.Thr1265=) n.4164T= | |
13 | g.32338524dup | CA10589244 | BRCA2 | c.4169dup (p.Leu1390PhefsTer13) c.3800dup (p.Leu1267PhefsTer13) n.4169dup | ClinVar dbSNP |
13 | g.32338524del | CA019655 | BRCA2 | c.4169del (p.Leu1390TrpfsTer20) c.3800del (p.Leu1267TrpfsTer20) n.4169del | ClinVar dbSNP gnomAD v4 |
13 | g.32338523_32338524del | CA019652 | BRCA2 | c.4168_4169del (p.Leu1390GlyfsTer12) c.3799_3800del (p.Leu1267GlyfsTer12) n.4168_4169del | ClinVar dbSNP |
13 | g.32338521_32338524del | CA2499222156 | BRCA2 | c.4166_4169del (p.Phe1389TrpfsTer20) c.3797_3800del (p.Phe1266TrpfsTer20) n.4166_4169del | |
13 | g.32338520T>A | CA387780057 | BRCA2 | c.4165T>A (p.Phe1389Ile) c.3796T>A (p.Phe1266Ile) n.4165T>A | ClinVar dbSNP |
13 | g.32338520T>C | CA387780059 | BRCA2 | c.4165T>C (p.Phe1389Leu) c.3796T>C (p.Phe1266Leu) n.4165T>C | ClinVar dbSNP |
13 | g.32338520T>G | CA16020672 | BRCA2 | c.4165T>G (p.Phe1389Val) c.3796T>G (p.Phe1266Val) n.4165T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32338520T= | CA2082809086 | BRCA2 | c.4165T= (p.Phe1389=) c.3796T= (p.Phe1266=) n.4165T= | |
13 | g.32338521T>A | CA387780061 | BRCA2 | c.4166T>A (p.Phe1389Tyr) c.3797T>A (p.Phe1266Tyr) n.4166T>A | |
13 | g.32338521T>C | CA387780063 | BRCA2 | c.4166T>C (p.Phe1389Ser) c.3797T>C (p.Phe1266Ser) n.4166T>C | ClinVar dbSNP |
13 | g.32338521T>G | CA387780064 | BRCA2 | c.4166T>G (p.Phe1389Cys) c.3797T>G (p.Phe1266Cys) n.4166T>G | |
13 | g.32338521T= | CA2082809094 | BRCA2 | c.4166T= (p.Phe1389=) c.3797T= (p.Phe1266=) n.4166T= | |
13 | g.32338522T>A | CA387780069 | BRCA2 | c.4167T>A (p.Phe1389Leu) c.3798T>A (p.Phe1266Leu) n.4167T>A | |
13 | g.32338522T>C | CA483437857 | BRCA2 | c.4167T>C (p.Phe1389=) c.3798T>C (p.Phe1266=) n.4167T>C | ClinVar |
13 | g.32338522T>G | CA387780066 | BRCA2 | c.4167T>G (p.Phe1389Leu) c.3798T>G (p.Phe1266Leu) n.4167T>G | |
13 | g.32338523T>A | CA387780071 | BRCA2 | c.4168T>A (p.Leu1390Met) c.3799T>A (p.Leu1267Met) n.4168T>A | dbSNP |
13 | g.32338523T>C | CA483437861 | BRCA2 | c.4168T>C (p.Leu1390=) c.3799T>C (p.Leu1267=) n.4168T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338523T>G | CA387780070 | BRCA2 | c.4168T>G (p.Leu1390Val) c.3799T>G (p.Leu1267Val) n.4168T>G | |
13 | g.32338523T= | CA2082809107 | BRCA2 | c.4168T= (p.Leu1390=) c.3799T= (p.Leu1267=) n.4168T= | |
13 | g.32338524T>A | CA387780074 | BRCA2 | c.4169T>A (p.Leu1390Ter) c.3800T>A (p.Leu1267Ter) n.4169T>A | |
13 | g.32338524T>C | CA387780075 | BRCA2 | c.4169T>C (p.Leu1390Ser) c.3800T>C (p.Leu1267Ser) n.4169T>C | |
13 | g.32338524T>G | CA387780076 | BRCA2 | c.4169T>G (p.Leu1390Trp) c.3800T>G (p.Leu1267Trp) n.4169T>G | ClinVar dbSNP |
13 | g.32338524T= | CA2082809126 | BRCA2 | c.4169T= (p.Leu1390=) c.3800T= (p.Leu1267=) n.4169T= | |
13 | g.32338524_32338525delinsTG | CA2082809123 | BRCA2 | c.4169_4170delinsTG (p.Leu1390=) c.3800_3801delinsTG (p.Leu1267=) n.4169_4170delinsTG | |
13 | g.32338524_32338526delinsTGG | CA2082809124 | BRCA2 | c.4169_4171delinsTGG (p.Leu1390=) c.3800_3802delinsTGG (p.Leu1267=) n.4169_4171delinsTGG | |
13 | g.32338525G>A | CA483437865 | BRCA2 | c.4170G>A (p.Leu1390=) c.3801G>A (p.Leu1267=) n.4170G>A | ClinVar dbSNP COSMIC COSMIC |
13 | g.32338525G>C | CA387780079 | BRCA2 | c.4170G>C (p.Leu1390Phe) c.3801G>C (p.Leu1267Phe) n.4170G>C | dbSNP |
13 | g.32338525G= | CA2082809148 | BRCA2 | c.4170G= (p.Leu1390=) c.3801G= (p.Leu1267=) n.4170G= | |
13 | g.32338525G>T | CA387780081 | BRCA2 | c.4170G>T (p.Leu1390Phe) c.3801G>T (p.Leu1267Phe) n.4170G>T | dbSNP |
13 | g.32338525_32338526del | CA10583100 | BRCA2 | c.4170_4171del (p.Glu1391SerfsTer11) c.3801_3802del (p.Glu1268SerfsTer11) n.4170_4171del | ClinVar dbSNP |
13 | g.32338526dup | CA2580087256 | BRCA2 | c.4171dup (p.Glu1391GlyfsTer12) c.3802dup (p.Glu1268GlyfsTer12) n.4171dup | ClinVar |
13 | g.32338526del | CA019663 | BRCA2 | c.4171del (p.Glu1391LysfsTer19) c.3802del (p.Glu1268LysfsTer19) n.4171del | ClinVar dbSNP |
13 | g.32338526G>A | CA387780084 | BRCA2 | c.4171G>A (p.Glu1391Lys) c.3802G>A (p.Glu1268Lys) n.4171G>A | ClinVar dbSNP |
13 | g.32338526G>C | CA387780086 | BRCA2 | c.4171G>C (p.Glu1391Gln) c.3802G>C (p.Glu1268Gln) n.4171G>C | dbSNP |
13 | g.32338526G= | CA2082809157 | BRCA2 | c.4171G= (p.Glu1391=) c.3802G= (p.Glu1268=) n.4171G= | |
13 | g.32338526G>T | CA387780083 | BRCA2 | c.4171G>T (p.Glu1391Ter) c.3802G>T (p.Glu1268Ter) n.4171G>T | ClinVar dbSNP |
13 | g.32338527A>C | CA387780088 | BRCA2 | c.4172A>C (p.Glu1391Ala) c.3803A>C (p.Glu1268Ala) n.4172A>C | |
13 | g.32338527A>G | CA387780089 | BRCA2 | c.4172A>G (p.Glu1391Gly) c.3803A>G (p.Glu1268Gly) n.4172A>G | ClinVar dbSNP |
13 | g.32338527A>T | CA387780091 | BRCA2 | c.4172A>T (p.Glu1391Val) c.3803A>T (p.Glu1268Val) n.4172A>T | dbSNP |
13 | g.32338527_32338530del | CA2695218198 | BRCA2 | c.4172_4175del (p.Glu1391ValfsTer18) c.3803_3806del (p.Glu1268ValfsTer18) n.4172_4175del | |
13 | g.32338528A>C | CA387780093 | BRCA2 | c.4173A>C (p.Glu1391Asp) c.3804A>C (p.Glu1268Asp) n.4173A>C | |
13 | g.32338528A>G | CA483437868 | BRCA2 | c.4173A>G (p.Glu1391=) c.3804A>G (p.Glu1268=) n.4173A>G | dbSNP gnomAD v4 |
13 | g.32338528A>T | CA387780095 | BRCA2 | c.4173A>T (p.Glu1391Asp) c.3804A>T (p.Glu1268Asp) n.4173A>T | dbSNP |
13 | g.32338529G>A | CA019667 | BRCA2 | c.4174G>A (p.Val1392Ile) c.3805G>A (p.Val1269Ile) n.4174G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338529G>C | CA387780098 | BRCA2 | c.4174G>C (p.Val1392Leu) c.3805G>C (p.Val1269Leu) n.4174G>C | dbSNP |
13 | g.32338529G= | CA2082809162 | BRCA2 | c.4174G= (p.Val1392=) c.3805G= (p.Val1269=) n.4174G= | |
13 | g.32338529G>T | CA387780100 | BRCA2 | c.4174G>T (p.Val1392Phe) c.3805G>T (p.Val1269Phe) n.4174G>T | dbSNP |
13 | g.32338529_32338530delinsGT | CA2082809167 | BRCA2 | c.4174_4175delinsGT (p.Val1392=) c.3805_3806delinsGT (p.Val1269=) n.4174_4175delinsGT | |
13 | g.32338530T>A | CA387780102 | BRCA2 | c.4175T>A (p.Val1392Asp) c.3806T>A (p.Val1269Asp) n.4175T>A | dbSNP |
13 | g.32338530T>C | CA387780104 | BRCA2 | c.4175T>C (p.Val1392Ala) c.3806T>C (p.Val1269Ala) n.4175T>C | dbSNP |
13 | g.32338530T>G | CA387780106 | BRCA2 | c.4175T>G (p.Val1392Gly) c.3806T>G (p.Val1269Gly) n.4175T>G | dbSNP |
13 | g.32338531del | CA335700 | BRCA2 | c.4176del (p.Ala1393ArgfsTer17) c.3807del (p.Ala1270ArgfsTer17) n.4176del | ClinVar dbSNP gnomAD v4 |
13 | g.32338531T>A | CA483437876 | BRCA2 | c.4176T>A (p.Val1392=) c.3807T>A (p.Val1269=) n.4176T>A | dbSNP |
13 | g.32338531T>C | CA483437877 | BRCA2 | c.4176T>C (p.Val1392=) c.3807T>C (p.Val1269=) n.4176T>C | |
13 | g.32338531T>G | CA483437878 | BRCA2 | c.4176T>G (p.Val1392=) c.3807T>G (p.Val1269=) n.4176T>G | |
13 | g.32338531T= | CA2082809178 | BRCA2 | c.4176T= (p.Val1392=) c.3807T= (p.Val1269=) n.4176T= | |
13 | g.32338532G>A | CA387780112 | BRCA2 | c.4177G>A (p.Ala1393Thr) c.3808G>A (p.Ala1270Thr) n.4177G>A | dbSNP |
13 | g.32338532G>C | CA387780109 | BRCA2 | c.4177G>C (p.Ala1393Pro) c.3808G>C (p.Ala1270Pro) n.4177G>C | dbSNP |
13 | g.32338532G>T | CA387780111 | BRCA2 | c.4177G>T (p.Ala1393Ser) c.3808G>T (p.Ala1270Ser) n.4177G>T | dbSNP |
13 | g.32338532dup | CA10579602 | BRCA2 | c.4177dup (p.Ala1393GlyfsTer10) c.3808dup (p.Ala1270GlyfsTer10) n.4177dup | ClinVar dbSNP gnomAD v4 |
13 | g.32338533C>A | CA387780113 | BRCA2 | c.4178C>A (p.Ala1393Glu) c.3809C>A (p.Ala1270Glu) n.4178C>A | dbSNP |
13 | g.32338533C= | CA2082809188 | BRCA2 | c.4178C= (p.Ala1393=) c.3809C= (p.Ala1270=) n.4178C= | |
13 | g.32338533C>G | CA019671 | BRCA2 | c.4178C>G (p.Ala1393Gly) c.3809C>G (p.Ala1270Gly) n.4178C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338533C>T | CA019676 | BRCA2 | c.4178C>T (p.Ala1393Val) c.3809C>T (p.Ala1270Val) n.4178C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32338534G>A | CA019680 | BRCA2 | c.4179G>A (p.Ala1393=) c.3810G>A (p.Ala1270=) n.4179G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32338534G>C | CA483437882 | BRCA2 | c.4179G>C (p.Ala1393=) c.3810G>C (p.Ala1270=) n.4179G>C | ClinVar dbSNP |
13 | g.32338534G= | CA2082809208 | BRCA2 | c.4179G= (p.Ala1393=) c.3810G= (p.Ala1270=) n.4179G= | |
13 | g.32338534G>T | CA483437883 | BRCA2 | c.4179G>T (p.Ala1393=) c.3810G>T (p.Ala1270=) n.4179G>T | dbSNP |
13 | g.32338535A>C | CA387780117 | BRCA2 | c.4180A>C (p.Lys1394Gln) c.3811A>C (p.Lys1271Gln) n.4180A>C | |
13 | g.32338535A>G | CA387780118 | BRCA2 | c.4180A>G (p.Lys1394Glu) c.3811A>G (p.Lys1271Glu) n.4180A>G | |
13 | g.32338535A>T | CA387780120 | BRCA2 | c.4180A>T (p.Lys1394Ter) c.3811A>T (p.Lys1271Ter) n.4180A>T | dbSNP |
13 | g.32338536A>C | CA387780122 | BRCA2 | c.4181A>C (p.Lys1394Thr) c.3812A>C (p.Lys1271Thr) n.4181A>C | |
13 | g.32338536A>G | CA387780124 | BRCA2 | c.4181A>G (p.Lys1394Arg) c.3812A>G (p.Lys1271Arg) n.4181A>G | dbSNP |
13 | g.32338536A>T | CA387780126 | BRCA2 | c.4181A>T (p.Lys1394Ile) c.3812A>T (p.Lys1271Ile) n.4181A>T | dbSNP |
13 | g.32338537A>C | CA387780128 | BRCA2 | c.4182A>C (p.Lys1394Asn) c.3813A>C (p.Lys1271Asn) n.4182A>C | |
13 | g.32338537A>G | CA483437886 | BRCA2 | c.4182A>G (p.Lys1394=) c.3813A>G (p.Lys1271=) n.4182A>G | ClinVar dbSNP |
13 | g.32338537A>T | CA387780130 | BRCA2 | c.4182A>T (p.Lys1394Asn) c.3813A>T (p.Lys1271Asn) n.4182A>T | dbSNP |
13 | g.32338537_32338538delinsAG | CA2082809211 | BRCA2 | c.4182_4183delinsAG (p.Lys1394=) c.3813_3814delinsAG (p.Lys1271=) n.4182_4183delinsAG | |
13 | g.32338538del | CA1139663190 | BRCA2 | c.4183del (p.Ala1395LeufsTer15) c.3814del (p.Ala1272LeufsTer15) n.4183del | ClinVar dbSNP |
13 | g.32338538G>A | CA387780133 | BRCA2 | c.4183G>A (p.Ala1395Thr) c.3814G>A (p.Ala1272Thr) n.4183G>A | dbSNP |
13 | g.32338538G>C | CA387780135 | BRCA2 | c.4183G>C (p.Ala1395Pro) c.3814G>C (p.Ala1272Pro) n.4183G>C | dbSNP |
13 | g.32338538G= | CA2082809217 | BRCA2 | c.4183G= (p.Ala1395=) c.3814G= (p.Ala1272=) n.4183G= | |
13 | g.32338538G>T | CA019684 | BRCA2 | c.4183G>T (p.Ala1395Ser) c.3814G>T (p.Ala1272Ser) n.4183G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |