Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32338179_32338182dup | CA2499222146 | BRCA2 | c.3824_3827dup (p.Glu1276AspfsTer5) c.3455_3458dup (p.Glu1153AspfsTer5) n.3824_3827dup | ClinVar dbSNP |
13 | g.32338179_32338182del | CA018874 | BRCA2 | c.3824_3827del (p.Ile1275LysfsTer8) c.3455_3458del (p.Ile1152LysfsTer8) n.3824_3827del | ClinVar dbSNP |
13 | g.32338181G>A | CA387778506 | BRCA2 | c.3826G>A (p.Glu1276Lys) c.3457G>A (p.Glu1153Lys) n.3826G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338181G>C | CA10583095 | BRCA2 | c.3826G>C (p.Glu1276Gln) c.3457G>C (p.Glu1153Gln) n.3826G>C | ClinVar dbSNP |
13 | g.32338181G= | CA2082821035 | BRCA2 | c.3826G= (p.Glu1276=) c.3457G= (p.Glu1153=) n.3826G= | |
13 | g.32338181G>T | CA387778508 | BRCA2 | c.3826G>T (p.Glu1276Ter) c.3457G>T (p.Glu1153Ter) n.3826G>T | ClinVar dbSNP |
13 | g.32338181_32338183delinsGAA | CA2082821039 | BRCA2 | c.3826_3828delinsGAA (p.Glu1276=) c.3457_3459delinsGAA (p.Glu1153=) n.3826_3828delinsGAA | |
13 | g.32338182A= | CA2082821050 | BRCA2 | c.3827A= (p.Glu1276=) c.3458A= (p.Glu1153=) n.3827A= | |
13 | g.32338182A>C | CA387778512 | BRCA2 | c.3827A>C (p.Glu1276Ala) c.3458A>C (p.Glu1153Ala) n.3827A>C | dbSNP |
13 | g.32338182A>G | CA387778517 | BRCA2 | c.3827A>G (p.Glu1276Gly) c.3458A>G (p.Glu1153Gly) n.3827A>G | ClinVar dbSNP |
13 | g.32338182A>T | CA16613956 | BRCA2 | c.3827A>T (p.Glu1276Val) c.3458A>T (p.Glu1153Val) n.3827A>T | ClinVar dbSNP |
13 | g.32338185dup | CA2580612212 | BRCA2 | c.3830dup (p.Asn1277LysfsTer3) c.3461dup (p.Asn1154LysfsTer3) n.3830dup | |
13 | g.32338185del | CA018884 | BRCA2 | c.3830del (p.Asn1277IlefsTer7) c.3461del (p.Asn1154IlefsTer7) n.3830del | ClinVar dbSNP gnomAD v4 |
13 | g.32338184_32338185del | CA10589226 | BRCA2 | c.3829_3830del (p.Asn1277SerfsTer2) c.3460_3461del (p.Asn1154SerfsTer2) n.3829_3830del | ClinVar dbSNP |
13 | g.32338183A= | CA2082821082 | BRCA2 | c.3828A= (p.Glu1276=) c.3459A= (p.Glu1153=) n.3828A= | |
13 | g.32338183A>C | CA387778519 | BRCA2 | c.3828A>C (p.Glu1276Asp) c.3459A>C (p.Glu1153Asp) n.3828A>C | |
13 | g.32338183A>G | CA16613959 | BRCA2 | c.3828A>G (p.Glu1276=) c.3459A>G (p.Glu1153=) n.3828A>G | ClinVar dbSNP |
13 | g.32338183A>T | CA387778520 | BRCA2 | c.3828A>T (p.Glu1276Asp) c.3459A>T (p.Glu1153Asp) n.3828A>T | dbSNP |
13 | g.32338183_32338189delinsAAATCAT | CA2082821084 | BRCA2 | c.3828_3834delinsAAATCAT (p.Glu1276=) c.3459_3465delinsAAATCAT (p.Glu1153=) n.3828_3834delinsAAATCAT | |
13 | g.32338184A>C | CA387778525 | BRCA2 | c.3829A>C (p.Asn1277His) c.3460A>C (p.Asn1154His) n.3829A>C | dbSNP |
13 | g.32338184A>G | CA387778522 | BRCA2 | c.3829A>G (p.Asn1277Asp) c.3460A>G (p.Asn1154Asp) n.3829A>G | ClinVar |
13 | g.32338184A>T | CA387778523 | BRCA2 | c.3829A>T (p.Asn1277Tyr) c.3460A>T (p.Asn1154Tyr) n.3829A>T | |
13 | g.32338187_32338192del | CA697331526 | BRCA2 | c.3832_3837del (p.His1278_Asn1279del) c.3463_3468del (p.His1155_Asn1156del) n.3832_3837del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338185A>C | CA387778529 | BRCA2 | c.3830A>C (p.Asn1277Thr) c.3461A>C (p.Asn1154Thr) n.3830A>C | |
13 | g.32338185A>G | CA387778530 | BRCA2 | c.3830A>G (p.Asn1277Ser) c.3461A>G (p.Asn1154Ser) n.3830A>G | dbSNP |
13 | g.32338185A>T | CA387778532 | BRCA2 | c.3830A>T (p.Asn1277Ile) c.3461A>T (p.Asn1154Ile) n.3830A>T | dbSNP |
13 | g.32338186T>A | CA387778534 | BRCA2 | c.3831T>A (p.Asn1277Lys) c.3462T>A (p.Asn1154Lys) n.3831T>A | dbSNP |
13 | g.32338186T>C | CA483437974 | BRCA2 | c.3831T>C (p.Asn1277=) c.3462T>C (p.Asn1154=) n.3831T>C | dbSNP |
13 | g.32338186T>G | CA10585894 | BRCA2 | c.3831T>G (p.Asn1277Lys) c.3462T>G (p.Asn1154Lys) n.3831T>G | ClinVar dbSNP |
13 | g.32338186T= | CA2082821097 | BRCA2 | c.3831T= (p.Asn1277=) c.3462T= (p.Asn1154=) n.3831T= | |
13 | g.32338187C>A | CA387778536 | BRCA2 | c.3832C>A (p.His1278Asn) c.3463C>A (p.His1155Asn) n.3832C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338187C= | CA2082821125 | BRCA2 | c.3832C= (p.His1278=) c.3463C= (p.His1155=) n.3832C= | |
13 | g.32338187C>G | CA387778538 | BRCA2 | c.3832C>G (p.His1278Asp) c.3463C>G (p.His1155Asp) n.3832C>G | dbSNP |
13 | g.32338187C>T | CA387778540 | BRCA2 | c.3832C>T (p.His1278Tyr) c.3463C>T (p.His1155Tyr) n.3832C>T | dbSNP |
13 | g.32338187_32338189delinsCAT | CA2082821120 | BRCA2 | c.3832_3834delinsCAT (p.His1278=) c.3463_3465delinsCAT (p.His1155=) n.3832_3834delinsCAT | |
13 | g.32338187_32338190delinsCATA | CA2082821104 | BRCA2 | c.3832_3835delinsCATA (p.His1278=) c.3463_3466delinsCATA (p.His1155=) n.3832_3835delinsCATA | |
13 | g.32338188A= | CA2082821139 | BRCA2 | c.3833A= (p.His1278=) c.3464A= (p.His1155=) n.3833A= | |
13 | g.32338188A>C | CA387778544 | BRCA2 | c.3833A>C (p.His1278Pro) c.3464A>C (p.His1155Pro) n.3833A>C | |
13 | g.32338188A>G | CA387778543 | BRCA2 | c.3833A>G (p.His1278Arg) c.3464A>G (p.His1155Arg) n.3833A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338188A>T | CA387778542 | BRCA2 | c.3833A>T (p.His1278Leu) c.3464A>T (p.His1155Leu) n.3833A>T | dbSNP |
13 | g.32338189_32338190del | CA10575917 | BRCA2 | c.3834_3835del (p.His1278GlnfsTer2) c.3465_3466del (p.His1155GlnfsTer2) n.3834_3835del | ClinVar dbSNP |
13 | g.32338190_32338192del | CA348712 | BRCA2 | c.3835_3837del (p.Asn1279del) c.3466_3468del (p.Asn1156del) n.3835_3837del | ClinVar dbSNP gnomAD v4 |
13 | g.32338192_32338197del | CA2573149344 | BRCA2 | c.3837_3842del (p.Asn1279_Asp1280del) c.3468_3473del (p.Asn1156_Asp1157del) n.3837_3842del | ClinVar dbSNP gnomAD v4 |
13 | g.32338189T>A | CA387778548 | BRCA2 | c.3834T>A (p.His1278Gln) c.3465T>A (p.His1155Gln) n.3834T>A | ClinVar gnomAD v4 |
13 | g.32338189T>C | CA483437976 | BRCA2 | c.3834T>C (p.His1278=) c.3465T>C (p.His1155=) n.3834T>C | ClinVar gnomAD v4 |
13 | g.32338189T>G | CA387778546 | BRCA2 | c.3834T>G (p.His1278Gln) c.3465T>G (p.His1155Gln) n.3834T>G | |
13 | g.32338189_32338190delinsTA | CA2082821144 | BRCA2 | c.3834_3835delinsTA (p.His1278=) c.3465_3466delinsTA (p.His1155=) n.3834_3835delinsTA | |
13 | g.32338190A= | CA2082821156 | BRCA2 | c.3835A= (p.Asn1279=) c.3466A= (p.Asn1156=) n.3835A= | |
13 | g.32338190A>C | CA387778550 | BRCA2 | c.3835A>C (p.Asn1279His) c.3466A>C (p.Asn1156His) n.3835A>C | |
13 | g.32338190A>G | CA018891 | BRCA2 | c.3835A>G (p.Asn1279Asp) c.3466A>G (p.Asn1156Asp) n.3835A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338190A>T | CA387778552 | BRCA2 | c.3835A>T (p.Asn1279Tyr) c.3466A>T (p.Asn1156Tyr) n.3835A>T | dbSNP |
13 | g.32338191dup | CA196954 | BRCA2 | c.3836dup (p.Asn1279LysfsTer2) c.3467dup (p.Asn1156LysfsTer2) n.3836dup | ClinVar dbSNP |
13 | g.32338191del | CA018897 | BRCA2 | c.3836del (p.Asn1279MetfsTer5) c.3467del (p.Asn1156MetfsTer5) n.3836del | ClinVar dbSNP |
13 | g.32338197_32338391del | CA2580618074 | BRCA2 | c.3842_4036del (p.Lys1281_Asp1345del) c.3473_3667del (p.Lys1158_Asp1222del) n.3842_4036del | |
13 | g.32338191A= | CA2082821192 | BRCA2 | c.3836A= (p.Asn1279=) c.3467A= (p.Asn1156=) n.3836A= | |
13 | g.32338191A>C | CA387778559 | BRCA2 | c.3836A>C (p.Asn1279Thr) c.3467A>C (p.Asn1156Thr) n.3836A>C | |
13 | g.32338191A>G | CA16613874 | BRCA2 | c.3836A>G (p.Asn1279Ser) c.3467A>G (p.Asn1156Ser) n.3836A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338191A>T | CA387778555 | BRCA2 | c.3836A>T (p.Asn1279Ile) c.3467A>T (p.Asn1156Ile) n.3836A>T | dbSNP |
13 | g.32338191_32338192delinsAT | CA2082821170 | BRCA2 | c.3836_3837delinsAT (p.Asn1279=) c.3467_3468delinsAT (p.Asn1156=) n.3836_3837delinsAT | |
13 | g.32338193_32338195del | CA2622600950 | BRCA2 | c.3838_3840del (p.Asp1280del) c.3469_3471del (p.Asp1157del) n.3838_3840del | gnomAD v4 |
13 | g.32338192del | CA018900 | BRCA2 | c.3837del (p.Asn1279LysfsTer5) c.3468del (p.Asn1156LysfsTer5) n.3837del | ClinVar dbSNP |
13 | g.32338192T>A | CA387778560 | BRCA2 | c.3837T>A (p.Asn1279Lys) c.3468T>A (p.Asn1156Lys) n.3837T>A | dbSNP gnomAD v4 |
13 | g.32338192T>C | CA483437980 | BRCA2 | c.3837T>C (p.Asn1279=) c.3468T>C (p.Asn1156=) n.3837T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338192T>G | CA387778561 | BRCA2 | c.3837T>G (p.Asn1279Lys) c.3468T>G (p.Asn1156Lys) n.3837T>G | ClinVar |
13 | g.32338192T= | CA2082821201 | BRCA2 | c.3837T= (p.Asn1279=) c.3468T= (p.Asn1156=) n.3837T= | |
13 | g.32338193G>A | CA387778562 | BRCA2 | c.3838G>A (p.Asp1280Asn) c.3469G>A (p.Asp1157Asn) n.3838G>A | dbSNP |
13 | g.32338193G>C | CA387778563 | BRCA2 | c.3838G>C (p.Asp1280His) c.3469G>C (p.Asp1157His) n.3838G>C | dbSNP |
13 | g.32338193G>T | CA387778564 | BRCA2 | c.3838G>T (p.Asp1280Tyr) c.3469G>T (p.Asp1157Tyr) n.3838G>T | dbSNP gnomAD v4 |
13 | g.32338194A= | CA2082821205 | BRCA2 | c.3839A= (p.Asp1280=) c.3470A= (p.Asp1157=) n.3839A= | |
13 | g.32338194A>C | CA387778565 | BRCA2 | c.3839A>C (p.Asp1280Ala) c.3470A>C (p.Asp1157Ala) n.3839A>C | |
13 | g.32338194A>G | CA387778566 | BRCA2 | c.3839A>G (p.Asp1280Gly) c.3470A>G (p.Asp1157Gly) n.3839A>G | ClinVar |
13 | g.32338194A>T | CA018906 | BRCA2 | c.3839A>T (p.Asp1280Val) c.3470A>T (p.Asp1157Val) n.3839A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338195T>A | CA387778571 | BRCA2 | c.3840T>A (p.Asp1280Glu) c.3471T>A (p.Asp1157Glu) n.3840T>A | |
13 | g.32338195T>C | CA018918 | BRCA2 | c.3840T>C (p.Asp1280=) c.3471T>C (p.Asp1157=) n.3840T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338195T>G | CA387778569 | BRCA2 | c.3840T>G (p.Asp1280Glu) c.3471T>G (p.Asp1157Glu) n.3840T>G | |
13 | g.32338195T= | CA2082821211 | BRCA2 | c.3840T= (p.Asp1280=) c.3471T= (p.Asp1157=) n.3840T= | |
13 | g.32338196A>C | CA387778572 | BRCA2 | c.3841A>C (p.Lys1281Gln) c.3472A>C (p.Lys1158Gln) n.3841A>C | |
13 | g.32338196A>G | CA387778574 | BRCA2 | c.3841A>G (p.Lys1281Glu) c.3472A>G (p.Lys1158Glu) n.3841A>G | ClinVar gnomAD v4 |
13 | g.32338196A>T | CA387778575 | BRCA2 | c.3841A>T (p.Lys1281Ter) c.3472A>T (p.Lys1158Ter) n.3841A>T | dbSNP |
13 | g.32338197A>C | CA387778577 | BRCA2 | c.3842A>C (p.Lys1281Thr) c.3473A>C (p.Lys1158Thr) n.3842A>C | ClinVar dbSNP |
13 | g.32338197A>G | CA387778578 | BRCA2 | c.3842A>G (p.Lys1281Arg) c.3473A>G (p.Lys1158Arg) n.3842A>G | |
13 | g.32338197A>T | CA387778580 | BRCA2 | c.3842A>T (p.Lys1281Ile) c.3473A>T (p.Lys1158Ile) n.3842A>T | dbSNP |
13 | g.32338198A>C | CA387778581 | BRCA2 | c.3843A>C (p.Lys1281Asn) c.3474A>C (p.Lys1158Asn) n.3843A>C | |
13 | g.32338198A>G | CA483437984 | BRCA2 | c.3843A>G (p.Lys1281=) c.3474A>G (p.Lys1158=) n.3843A>G | |
13 | g.32338198A>T | CA387778583 | BRCA2 | c.3843A>T (p.Lys1281Asn) c.3474A>T (p.Lys1158Asn) n.3843A>T | |
13 | g.32338199A>C | CA387778584 | BRCA2 | c.3844A>C (p.Thr1282Pro) c.3475A>C (p.Thr1159Pro) n.3844A>C | |
13 | g.32338199A>G | CA387778586 | BRCA2 | c.3844A>G (p.Thr1282Ala) c.3475A>G (p.Thr1159Ala) n.3844A>G | dbSNP |
13 | g.32338199A>T | CA387778589 | BRCA2 | c.3844A>T (p.Thr1282Ser) c.3475A>T (p.Thr1159Ser) n.3844A>T | dbSNP |
13 | g.32338199_32338201delinsACT | CA2082821221 | BRCA2 | c.3844_3846delinsACT (p.Thr1282=) c.3475_3477delinsACT (p.Thr1159=) n.3844_3846delinsACT | |
13 | g.32338199_32338202delinsACTG | CA2082821223 | BRCA2 | c.3844_3847delinsACTG (p.Thr1282=) c.3475_3478delinsACTG (p.Thr1159=) n.3844_3847delinsACTG | |
13 | g.32338200C>A | CA387778594 | BRCA2 | c.3845C>A (p.Thr1282Asn) c.3476C>A (p.Thr1159Asn) n.3845C>A | dbSNP |
13 | g.32338200C= | CA2082821234 | BRCA2 | c.3845C= (p.Thr1282=) c.3476C= (p.Thr1159=) n.3845C= | |
13 | g.32338200C>G | CA387778593 | BRCA2 | c.3845C>G (p.Thr1282Ser) c.3476C>G (p.Thr1159Ser) n.3845C>G | ClinVar dbSNP |
13 | g.32338200C>T | CA387778591 | BRCA2 | c.3845C>T (p.Thr1282Ile) c.3476C>T (p.Thr1159Ile) n.3845C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338200_32338201del | CA919242510 | BRCA2 | c.3845_3846del (p.Thr1282SerfsTer3) c.3476_3477del (p.Thr1159SerfsTer3) n.3845_3846del | dbSNP |
13 | g.32338200_32338202delinsA | CA915948457 | BRCA2 | c.3845_3847delinsA (p.Thr1282AsnfsTer3) c.3476_3478delinsA (p.Thr1159AsnfsTer3) n.3845_3847delinsA | ClinVar dbSNP |
13 | g.32338200_32338202delinsCTG | CA2082821233 | BRCA2 | c.3845_3847delinsCTG (p.Thr1282=) c.3476_3478delinsCTG (p.Thr1159=) n.3845_3847delinsCTG | |
13 | g.32338200_32338203del | CA2622600951 | BRCA2 | c.3845_3848del (p.Thr1282LysfsTer10) c.3476_3479del (p.Thr1159LysfsTer10) n.3845_3848del | gnomAD v4 |
13 | g.32338201T>A | CA483437988 | BRCA2 | c.3846T>A (p.Thr1282=) c.3477T>A (p.Thr1159=) n.3846T>A | dbSNP |
13 | g.32338201T>C | CA483437989 | BRCA2 | c.3846T>C (p.Thr1282=) c.3477T>C (p.Thr1159=) n.3846T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338201T>G | CA483437990 | BRCA2 | c.3846T>G (p.Thr1282=) c.3477T>G (p.Thr1159=) n.3846T>G | ClinVar dbSNP |
13 | g.32338201T= | CA2082821253 | BRCA2 | c.3846T= (p.Thr1282=) c.3477T= (p.Thr1159=) n.3846T= | |
13 | g.32338201_32338202delinsTG | CA2082821261 | BRCA2 | c.3846_3847delinsTG (p.Thr1282=) c.3477_3478delinsTG (p.Thr1159=) n.3846_3847delinsTG | |
13 | g.32338202_32338203del | CA018922 | BRCA2 | c.3847_3848del (p.Val1283LysfsTer2) c.3478_3479del (p.Val1160LysfsTer2) n.3847_3848del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32338201_32338205delinsTGTAA | CA2082821255 | BRCA2 | c.3846_3850delinsTGTAA (p.Thr1282=) c.3477_3481delinsTGTAA (p.Thr1159=) n.3846_3850delinsTGTAA | |
13 | g.32338202del | CA018939 | BRCA2 | c.3847del (p.Val1283Ter) c.3478del (p.Val1160Ter) n.3847del | ClinVar dbSNP |
13 | g.32338202G>A | CA6940728 | BRCA2 | c.3847G>A (p.Val1283Ile) c.3478G>A (p.Val1160Ile) n.3847G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338202G>C | CA387778599 | BRCA2 | c.3847G>C (p.Val1283Leu) c.3478G>C (p.Val1160Leu) n.3847G>C | ClinVar dbSNP |
13 | g.32338202G= | CA2082821282 | BRCA2 | c.3847G= (p.Val1283=) c.3478G= (p.Val1160=) n.3847G= | |
13 | g.32338202G>T | CA387778601 | BRCA2 | c.3847G>T (p.Val1283Leu) c.3478G>T (p.Val1160Leu) n.3847G>T | gnomAD v4 |
13 | g.32338204_32338207del | CA018955 | BRCA2 | c.3849_3852del (p.Ser1284LysfsTer8) c.3480_3483del (p.Ser1161LysfsTer8) n.3849_3852del | ClinVar dbSNP |
13 | g.32338203T>A | CA387778602 | BRCA2 | c.3848T>A (p.Val1283Glu) c.3479T>A (p.Val1160Glu) n.3848T>A | |
13 | g.32338203T>C | CA10577468 | BRCA2 | c.3848T>C (p.Val1283Ala) c.3479T>C (p.Val1160Ala) n.3848T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338203T>G | CA018950 | BRCA2 | c.3848T>G (p.Val1283Gly) c.3479T>G (p.Val1160Gly) n.3848T>G | ClinVar dbSNP |
13 | g.32338203T= | CA2082821299 | BRCA2 | c.3848T= (p.Val1283=) c.3479T= (p.Val1160=) n.3848T= | |
13 | g.32338203dup | CA018945 | BRCA2 | c.3848dup (p.Ser1284LysfsTer2) c.3479dup (p.Ser1161LysfsTer2) n.3848dup | ClinVar dbSNP |
13 | g.32338204A= | CA2082821308 | BRCA2 | c.3849A= (p.Val1283=) c.3480A= (p.Val1160=) n.3849A= | |
13 | g.32338204A>C | CA483437991 | BRCA2 | c.3849A>C (p.Val1283=) c.3480A>C (p.Val1160=) n.3849A>C | ClinVar dbSNP |
13 | g.32338204A>G | CA483437992 | BRCA2 | c.3849A>G (p.Val1283=) c.3480A>G (p.Val1160=) n.3849A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338204A>T | CA483437993 | BRCA2 | c.3849A>T (p.Val1283=) c.3480A>T (p.Val1160=) n.3849A>T | ClinVar dbSNP |
13 | g.32338204_32338205insT | CA10586517 | BRCA2 | c.3849_3850insT (p.Ser1284Ter) c.3480_3481insT (p.Ser1161Ter) n.3849_3850insT | ClinVar dbSNP |
13 | g.32338205A>C | CA387778605 | BRCA2 | c.3850A>C (p.Ser1284Arg) c.3481A>C (p.Ser1161Arg) n.3850A>C | |
13 | g.32338205A>G | CA387778607 | BRCA2 | c.3850A>G (p.Ser1284Gly) c.3481A>G (p.Ser1161Gly) n.3850A>G | ClinVar dbSNP |
13 | g.32338205A>T | CA387778609 | BRCA2 | c.3850A>T (p.Ser1284Cys) c.3481A>T (p.Ser1161Cys) n.3850A>T | dbSNP |
13 | g.32338206G>A | CA387778615 | BRCA2 | c.3851G>A (p.Ser1284Asn) c.3482G>A (p.Ser1161Asn) n.3851G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338206G>C | CA387778613 | BRCA2 | c.3851G>C (p.Ser1284Thr) c.3482G>C (p.Ser1161Thr) n.3851G>C | |
13 | g.32338206G>T | CA387778611 | BRCA2 | c.3851G>T (p.Ser1284Ile) c.3482G>T (p.Ser1161Ile) n.3851G>T | |
13 | g.32338207T>A | CA10579592 | BRCA2 | c.3852T>A (p.Ser1284Arg) c.3483T>A (p.Ser1161Arg) n.3852T>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338207T>C | CA483437999 | BRCA2 | c.3852T>C (p.Ser1284=) c.3483T>C (p.Ser1161=) n.3852T>C | ClinVar |
13 | g.32338207T>G | CA6940729 | BRCA2 | c.3852T>G (p.Ser1284Arg) c.3483T>G (p.Ser1161Arg) n.3852T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338207T= | CA2082821325 | BRCA2 | c.3852T= (p.Ser1284=) c.3483T= (p.Ser1161=) n.3852T= | |
13 | g.32338208del | CA2580614661 | BRCA2 | c.3853del (p.Glu1285LysfsTer8) c.3484del (p.Glu1162LysfsTer8) n.3853del | ClinVar |
13 | g.32338208G>A | CA387778617 | BRCA2 | c.3853G>A (p.Glu1285Lys) c.3484G>A (p.Glu1162Lys) n.3853G>A | |
13 | g.32338208G>C | CA387778619 | BRCA2 | c.3853G>C (p.Glu1285Gln) c.3484G>C (p.Glu1162Gln) n.3853G>C | |
13 | g.32338208G>T | CA387778621 | BRCA2 | c.3853G>T (p.Glu1285Ter) c.3484G>T (p.Glu1162Ter) n.3853G>T | ClinVar gnomAD v4 |
13 | g.32338208dup | CA913188538 | BRCA2 | c.3853dup (p.Glu1285GlyfsTer4) c.3484dup (p.Glu1162GlyfsTer4) n.3853dup | ClinVar dbSNP |
13 | g.32338208_32338212delinsGAAAA | CA2082821339 | BRCA2 | c.3853_3857delinsGAAAA (p.Glu1285=) c.3484_3488delinsGAAAA (p.Glu1162=) n.3853_3857delinsGAAAA | |
13 | g.32338209A= | CA2082821372 | BRCA2 | c.3854A= (p.Glu1285=) c.3485A= (p.Glu1162=) n.3854A= | |
13 | g.32338209A>C | CA387778635 | BRCA2 | c.3854A>C (p.Glu1285Ala) c.3485A>C (p.Glu1162Ala) n.3854A>C | |
13 | g.32338209A>G | CA6940730 | BRCA2 | c.3854A>G (p.Glu1285Gly) c.3485A>G (p.Glu1162Gly) n.3854A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338209A>T | CA387778632 | BRCA2 | c.3854A>T (p.Glu1285Val) c.3485A>T (p.Glu1162Val) n.3854A>T | dbSNP |
13 | g.32338215dup | CA018986 | BRCA2 | c.3860dup (p.Asn1287LysfsTer2) c.3491dup (p.Asn1164LysfsTer2) n.3860dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338213_32338215dup | CA2082821374 | BRCA2 | c.3858_3860dup (p.Lys1286_Asn1287insLys) c.3489_3491dup (p.Lys1163_Asn1164insLys) n.3858_3860dup | ClinVar dbSNP |
13 | g.32338215del | CA018995 | BRCA2 | c.3860del (p.Asn1287IlefsTer6) c.3491del (p.Asn1164IlefsTer6) n.3860del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.32338214_32338215del | CA018979 | BRCA2 | c.3859_3860del (p.Asn1287Ter) c.3490_3491del (p.Asn1164Ter) n.3859_3860del | ClinVar dbSNP |
13 | g.32338213_32338215del | CA018972 | BRCA2 | c.3858_3860del (p.Lys1286del) c.3489_3491del (p.Lys1163del) n.3858_3860del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338212_32338215del | CA018962 | BRCA2 | c.3857_3860del (p.Lys1286IlefsTer6) c.3488_3491del (p.Lys1163IlefsTer6) n.3857_3860del | ClinVar dbSNP |
13 | g.32338210A>C | CA387778637 | BRCA2 | c.3855A>C (p.Glu1285Asp) c.3486A>C (p.Glu1162Asp) n.3855A>C | |
13 | g.32338210A>G | CA483438004 | BRCA2 | c.3855A>G (p.Glu1285=) c.3486A>G (p.Glu1162=) n.3855A>G | |
13 | g.32338210A>T | CA387778638 | BRCA2 | c.3855A>T (p.Glu1285Asp) c.3486A>T (p.Glu1162Asp) n.3855A>T | |
13 | g.32338211A= | CA2082821393 | BRCA2 | c.3856A= (p.Lys1286=) c.3487A= (p.Lys1163=) n.3856A= | |
13 | g.32338211A>C | CA387778641 | BRCA2 | c.3856A>C (p.Lys1286Gln) c.3487A>C (p.Lys1163Gln) n.3856A>C | |
13 | g.32338211A>G | CA018967 | BRCA2 | c.3856A>G (p.Lys1286Glu) c.3487A>G (p.Lys1163Glu) n.3856A>G | ClinVar dbSNP |
13 | g.32338211A>T | CA387778639 | BRCA2 | c.3856A>T (p.Lys1286Ter) c.3487A>T (p.Lys1163Ter) n.3856A>T | |
13 | g.32338212A>C | CA387778645 | BRCA2 | c.3857A>C (p.Lys1286Thr) c.3488A>C (p.Lys1163Thr) n.3857A>C | COSMIC COSMIC |
13 | g.32338212A>G | CA387778644 | BRCA2 | c.3857A>G (p.Lys1286Arg) c.3488A>G (p.Lys1163Arg) n.3857A>G | dbSNP |
13 | g.32338212A>T | CA387778642 | BRCA2 | c.3857A>T (p.Lys1286Ile) c.3488A>T (p.Lys1163Ile) n.3857A>T | |
13 | g.32338212_32338216delinsAAAAT | CA2082821402 | BRCA2 | c.3857_3861delinsAAAAT (p.Lys1286=) c.3488_3492delinsAAAAT (p.Lys1163=) n.3857_3861delinsAAAAT | |
13 | g.32338213A= | CA2082821411 | BRCA2 | c.3858A= (p.Lys1286=) c.3489A= (p.Lys1163=) n.3858A= | |
13 | g.32338213A>C | CA387778647 | BRCA2 | c.3858A>C (p.Lys1286Asn) c.3489A>C (p.Lys1163Asn) n.3858A>C | ClinVar |
13 | g.32338213A>G | CA483438011 | BRCA2 | c.3858A>G (p.Lys1286=) c.3489A>G (p.Lys1163=) n.3858A>G | |
13 | g.32338213A>T | CA387778648 | BRCA2 | c.3858A>T (p.Lys1286Asn) c.3489A>T (p.Lys1163Asn) n.3858A>T | ClinVar dbSNP |
13 | g.32338213_32338216delinsAAAT | CA2082821412 | BRCA2 | c.3858_3861delinsAAAT (p.Lys1286=) c.3489_3492delinsAAAT (p.Lys1163=) n.3858_3861delinsAAAT | |
13 | g.32338215_32338218del | CA018990 | BRCA2 | c.3860_3863del (p.Asn1287IlefsTer5) c.3491_3494del (p.Asn1164IlefsTer5) n.3860_3863del | ClinVar dbSNP |
13 | g.32338214A= | CA2082821438 | BRCA2 | c.3859A= (p.Asn1287=) c.3490A= (p.Asn1164=) n.3859A= | |
13 | g.32338214A>C | CA387778651 | BRCA2 | c.3859A>C (p.Asn1287His) c.3490A>C (p.Asn1164His) n.3859A>C | ClinVar dbSNP |
13 | g.32338214A>G | CA387778653 | BRCA2 | c.3859A>G (p.Asn1287Asp) c.3490A>G (p.Asn1164Asp) n.3859A>G | |
13 | g.32338214A>T | CA387778655 | BRCA2 | c.3859A>T (p.Asn1287Tyr) c.3490A>T (p.Asn1164Tyr) n.3859A>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338214_32338219delinsAATAAT | CA2082821428 | BRCA2 | c.3859_3864delinsAATAAT (p.Asn1287=) c.3490_3495delinsAATAAT (p.Asn1164=) n.3859_3864delinsAATAAT | |
13 | g.32338219_32338221del | CA019013 | BRCA2 | c.3864_3866del (p.Asn1288del) c.3495_3497del (p.Asn1165del) n.3864_3866del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338215A>C | CA387778661 | BRCA2 | c.3860A>C (p.Asn1287Thr) c.3491A>C (p.Asn1164Thr) n.3860A>C | |
13 | g.32338215A>G | CA387778660 | BRCA2 | c.3860A>G (p.Asn1287Ser) c.3491A>G (p.Asn1164Ser) n.3860A>G | ClinVar |
13 | g.32338215A>T | CA387778657 | BRCA2 | c.3860A>T (p.Asn1287Ile) c.3491A>T (p.Asn1164Ile) n.3860A>T | ClinVar dbSNP |
13 | g.32338215_32338216delinsAT | CA2082821453 | BRCA2 | c.3860_3861delinsAT (p.Asn1287=) c.3491_3492delinsAT (p.Asn1164=) n.3860_3861delinsAT | |
13 | g.32338215_32338219delinsATAAT | CA2082821452 | BRCA2 | c.3860_3864delinsATAAT (p.Asn1287=) c.3491_3495delinsATAAT (p.Asn1164=) n.3860_3864delinsATAAT | |
13 | g.32338216_32338220del | CA658798131 | BRCA2 | c.3861_3865del (p.Asn1287LysfsTer9) c.3492_3496del (p.Asn1164LysfsTer9) n.3861_3865del | ClinVar dbSNP |
13 | g.32338216del | CA919242517 | BRCA2 | c.3861del (p.Asn1287LysfsTer6) c.3492del (p.Asn1164LysfsTer6) n.3861del | dbSNP |
13 | g.32338216T>A | CA387778663 | BRCA2 | c.3861T>A (p.Asn1287Lys) c.3492T>A (p.Asn1164Lys) n.3861T>A | ClinVar dbSNP |
13 | g.32338216T>C | CA483438015 | BRCA2 | c.3861T>C (p.Asn1287=) c.3492T>C (p.Asn1164=) n.3861T>C | |
13 | g.32338216T>G | CA387778665 | BRCA2 | c.3861T>G (p.Asn1287Lys) c.3492T>G (p.Asn1164Lys) n.3861T>G | dbSNP |
13 | g.32338216T= | CA2082821464 | BRCA2 | c.3861T= (p.Asn1287=) c.3492T= (p.Asn1164=) n.3861T= | |
13 | g.32338216_32338219del | CA10589227 | BRCA2 | c.3861_3864del (p.Asn1287LysfsTer5) c.3492_3495del (p.Asn1164LysfsTer5) n.3861_3864del | ClinVar dbSNP |
13 | g.32338216_32338220delinsTAATA | CA2082821472 | BRCA2 | c.3861_3865delinsTAATA (p.Asn1287=) c.3492_3496delinsTAATA (p.Asn1164=) n.3861_3865delinsTAATA | |
13 | g.32338216_32338217insTA | CA916080546 | BRCA2 | c.3861_3862insTA (p.Asn1288Ter) c.3492_3493insTA (p.Asn1165Ter) n.3861_3862insTA | ClinVar dbSNP |
13 | g.32338217A>C | CA387778667 | BRCA2 | c.3862A>C (p.Asn1288His) c.3493A>C (p.Asn1165His) n.3862A>C | |
13 | g.32338217A>G | CA387778670 | BRCA2 | c.3862A>G (p.Asn1288Asp) c.3493A>G (p.Asn1165Asp) n.3862A>G | |
13 | g.32338217A>T | CA387778669 | BRCA2 | c.3862A>T (p.Asn1288Tyr) c.3493A>T (p.Asn1165Tyr) n.3862A>T | gnomAD v4 |
13 | g.32338217_32338218insCA | CA2622600955 | BRCA2 | c.3862_3863insCA (p.Asn1288ThrfsTer6) c.3493_3494insCA (p.Asn1165ThrfsTer6) n.3862_3863insCA | gnomAD v4 |
13 | g.32338218dup | CA019002 | BRCA2 | c.3863dup (p.Asn1288LysfsTer2) c.3494dup (p.Asn1165LysfsTer2) n.3863dup | ClinVar dbSNP |
13 | g.32338217_32338219delinsAAT | CA2082821491 | BRCA2 | c.3862_3864delinsAAT (p.Asn1288=) c.3493_3495delinsAAT (p.Asn1165=) n.3862_3864delinsAAT | |
13 | g.32338220_32338223del | CA019016 | BRCA2 | c.3865_3868del (p.Lys1289AlafsTer3) c.3496_3499del (p.Lys1166AlafsTer3) n.3865_3868del | ClinVar dbSNP gnomAD v4 |
13 | g.32338218A= | CA2082821508 | BRCA2 | c.3863A= (p.Asn1288=) c.3494A= (p.Asn1165=) n.3863A= | |
13 | g.32338218A>C | CA387778672 | BRCA2 | c.3863A>C (p.Asn1288Thr) c.3494A>C (p.Asn1165Thr) n.3863A>C | |
13 | g.32338218A>G | CA6940731 | BRCA2 | c.3863A>G (p.Asn1288Ser) c.3494A>G (p.Asn1165Ser) n.3863A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338218A>T | CA019007 | BRCA2 | c.3863A>T (p.Asn1288Ile) c.3494A>T (p.Asn1165Ile) n.3863A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338218_32338219insCCAAACACACCCAACACA | CA2798719297 | BRCA2 | c.3863_3864insCCAAACACACCCAACACA (p.Asn1288_Lys1289insGlnThrHisProThrHis) c.3494_3495insCCAAACACACCCAACACA (p.Asn1165_Lys1166insGlnThrHisProThrHis) n.3863_3864insCCAAACACACCCAACACA | |
13 | g.32338218_32338219insACCAAACACACCCAACACA | CA2798719299 | BRCA2 | c.3863_3864insACCAAACACACCCAACACA (p.Asn1288LysfsTer8) c.3494_3495insACCAAACACACCCAACACA (p.Asn1165LysfsTer8) n.3863_3864insACCAAACACACCCAACACA | |
13 | g.32338219_32338220del | CA10586518 | BRCA2 | c.3864_3865del (p.Asn1288LysfsTer9) c.3495_3496del (p.Asn1165LysfsTer9) n.3864_3865del | ClinVar dbSNP |
13 | g.32338219T>A | CA387778673 | BRCA2 | c.3864T>A (p.Asn1288Lys) c.3495T>A (p.Asn1165Lys) n.3864T>A | |
13 | g.32338219T>C | CA483438020 | BRCA2 | c.3864T>C (p.Asn1288=) c.3495T>C (p.Asn1165=) n.3864T>C | ClinVar |
13 | g.32338219T>G | CA387778675 | BRCA2 | c.3864T>G (p.Asn1288Lys) c.3495T>G (p.Asn1165Lys) n.3864T>G | |
13 | g.32338219_32338221delinsTAA | CA2082821514 | BRCA2 | c.3864_3866delinsTAA (p.Asn1288=) c.3495_3497delinsTAA (p.Asn1165=) n.3864_3866delinsTAA | |
13 | g.32338220A= | CA2082821548 | BRCA2 | c.3865A= (p.Lys1289=) c.3496A= (p.Lys1166=) n.3865A= | |
13 | g.32338220A>C | CA387778677 | BRCA2 | c.3865A>C (p.Lys1289Gln) c.3496A>C (p.Lys1166Gln) n.3865A>C | |
13 | g.32338220A>G | CA019026 | BRCA2 | c.3865A>G (p.Lys1289Glu) c.3496A>G (p.Lys1166Glu) n.3865A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338220A>T | CA387778679 | BRCA2 | c.3865A>T (p.Lys1289Ter) c.3496A>T (p.Lys1166Ter) n.3865A>T | dbSNP |
13 | g.32338222dup | CA10589229 | BRCA2 | c.3867dup (p.Cys1290MetfsTer8) c.3498dup (p.Cys1167MetfsTer8) n.3867dup | ClinVar dbSNP |
13 | g.32338221_32338222del | CA019031 | BRCA2 | c.3866_3867del (p.Lys1289MetfsTer8) c.3497_3498del (p.Lys1166MetfsTer8) n.3866_3867del | ClinVar dbSNP |
13 | g.32338220_32338224delinsAAATG | CA2082821542 | BRCA2 | c.3865_3869delinsAAATG (p.Lys1289=) c.3496_3500delinsAAATG (p.Lys1166=) n.3865_3869delinsAAATG | |
13 | g.32338221A>C | CA387778691 | BRCA2 | c.3866A>C (p.Lys1289Thr) c.3497A>C (p.Lys1166Thr) n.3866A>C | |
13 | g.32338221A>G | CA387778683 | BRCA2 | c.3866A>G (p.Lys1289Arg) c.3497A>G (p.Lys1166Arg) n.3866A>G | dbSNP |
13 | g.32338221A>T | CA387778689 | BRCA2 | c.3866A>T (p.Lys1289Ile) c.3497A>T (p.Lys1166Ile) n.3866A>T | dbSNP |
13 | g.32338221_32338223dup | CA658653658 | BRCA2 | c.3866_3868dup (p.Cys1290Ter) c.3497_3499dup (p.Cys1167Ter) n.3866_3868dup | ClinVar dbSNP gnomAD v4 |
13 | g.32338221_32338224del | CA10589228 | BRCA2 | c.3866_3869del (p.Lys1289ThrfsTer3) c.3497_3500del (p.Lys1166ThrfsTer3) n.3866_3869del | ClinVar dbSNP |
13 | g.32338222A>C | CA387778692 | BRCA2 | c.3867A>C (p.Lys1289Asn) c.3498A>C (p.Lys1166Asn) n.3867A>C | gnomAD v4 |
13 | g.32338222A>G | CA483438023 | BRCA2 | c.3867A>G (p.Lys1289=) c.3498A>G (p.Lys1166=) n.3867A>G | ClinVar dbSNP |
13 | g.32338222A>T | CA387778694 | BRCA2 | c.3867A>T (p.Lys1289Asn) c.3498A>T (p.Lys1166Asn) n.3867A>T | dbSNP |
13 | g.32338223T>A | CA387778695 | BRCA2 | c.3868T>A (p.Cys1290Ser) c.3499T>A (p.Cys1167Ser) n.3868T>A | ClinVar dbSNP |
13 | g.32338223T>C | CA387778697 | BRCA2 | c.3868T>C (p.Cys1290Arg) c.3499T>C (p.Cys1167Arg) n.3868T>C | gnomAD v4 |
13 | g.32338223T>G | CA387778698 | BRCA2 | c.3868T>G (p.Cys1290Gly) c.3499T>G (p.Cys1167Gly) n.3868T>G | dbSNP |
13 | g.32338224G>A | CA019036 | BRCA2 | c.3869G>A (p.Cys1290Tyr) c.3500G>A (p.Cys1167Tyr) n.3869G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338224G>C | CA387778701 | BRCA2 | c.3869G>C (p.Cys1290Ser) c.3500G>C (p.Cys1167Ser) n.3869G>C | dbSNP |
13 | g.32338224G= | CA2082821572 | BRCA2 | c.3869G= (p.Cys1290=) c.3500G= (p.Cys1167=) n.3869G= | |
13 | g.32338224G>T | CA387778702 | BRCA2 | c.3869G>T (p.Cys1290Phe) c.3500G>T (p.Cys1167Phe) n.3869G>T | ClinVar dbSNP |
13 | g.32338225C>A | CA387778704 | BRCA2 | c.3870C>A (p.Cys1290Ter) c.3501C>A (p.Cys1167Ter) n.3870C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338225C= | CA2082821577 | BRCA2 | c.3870C= (p.Cys1290=) c.3501C= (p.Cys1167=) n.3870C= | |
13 | g.32338225C>G | CA387778705 | BRCA2 | c.3870C>G (p.Cys1290Trp) c.3501C>G (p.Cys1167Trp) n.3870C>G | dbSNP |
13 | g.32338225C>T | CA483438027 | BRCA2 | c.3870C>T (p.Cys1290=) c.3501C>T (p.Cys1167=) n.3870C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338226C>A | CA387778707 | BRCA2 | c.3871C>A (p.Gln1291Lys) c.3502C>A (p.Gln1168Lys) n.3871C>A | dbSNP gnomAD v4 |
13 | g.32338226C= | CA2082821596 | BRCA2 | c.3871C= (p.Gln1291=) c.3502C= (p.Gln1168=) n.3871C= | |
13 | g.32338226C>G | CA387778708 | BRCA2 | c.3871C>G (p.Gln1291Glu) c.3502C>G (p.Gln1168Glu) n.3871C>G | dbSNP |
13 | g.32338226C>T | CA019043 | BRCA2 | c.3871C>T (p.Gln1291Ter) c.3502C>T (p.Gln1168Ter) n.3871C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338226_32338227delinsCA | CA2082821584 | BRCA2 | c.3871_3872delinsCA (p.Gln1291=) c.3502_3503delinsCA (p.Gln1168=) n.3871_3872delinsCA | |
13 | g.32338227A>C | CA387778712 | BRCA2 | c.3872A>C (p.Gln1291Pro) c.3503A>C (p.Gln1168Pro) n.3872A>C | |
13 | g.32338227A>G | CA387778713 | BRCA2 | c.3872A>G (p.Gln1291Arg) c.3503A>G (p.Gln1168Arg) n.3872A>G | dbSNP |
13 | g.32338227A>T | CA387778715 | BRCA2 | c.3872A>T (p.Gln1291Leu) c.3503A>T (p.Gln1168Leu) n.3872A>T | |
13 | g.32338228del | CA019049 | BRCA2 | c.3873del (p.Gln1291HisfsTer2) c.3504del (p.Gln1168HisfsTer2) n.3873del | ClinVar dbSNP gnomAD v4 |
13 | g.32338228A>C | CA387778719 | BRCA2 | c.3873A>C (p.Gln1291His) c.3504A>C (p.Gln1168His) n.3873A>C | |
13 | g.32338228A>G | CA483438029 | BRCA2 | c.3873A>G (p.Gln1291=) c.3504A>G (p.Gln1168=) n.3873A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338228A>T | CA387778721 | BRCA2 | c.3873A>T (p.Gln1291His) c.3504A>T (p.Gln1168His) n.3873A>T | dbSNP |
13 | g.32338229C>A | CA387778724 | BRCA2 | c.3874C>A (p.Leu1292Met) c.3505C>A (p.Leu1169Met) n.3874C>A | dbSNP |
13 | g.32338229C= | CA2082821611 | BRCA2 | c.3874C= (p.Leu1292=) c.3505C= (p.Leu1169=) n.3874C= | |
13 | g.32338229C>G | CA387778726 | BRCA2 | c.3874C>G (p.Leu1292Val) c.3505C>G (p.Leu1169Val) n.3874C>G | dbSNP |
13 | g.32338229C>T | CA019053 | BRCA2 | c.3874C>T (p.Leu1292=) c.3505C>T (p.Leu1169=) n.3874C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338230T>A | CA387778729 | BRCA2 | c.3875T>A (p.Leu1292Gln) c.3506T>A (p.Leu1169Gln) n.3875T>A | ClinVar dbSNP |
13 | g.32338230T>C | CA387778728 | BRCA2 | c.3875T>C (p.Leu1292Pro) c.3506T>C (p.Leu1169Pro) n.3875T>C | dbSNP |
13 | g.32338230T>G | CA387778727 | BRCA2 | c.3875T>G (p.Leu1292Arg) c.3506T>G (p.Leu1169Arg) n.3875T>G | dbSNP |
13 | g.32338230T= | CA2082821619 | BRCA2 | c.3875T= (p.Leu1292=) c.3506T= (p.Leu1169=) n.3875T= | |
13 | g.32338231G>A | CA483438034 | BRCA2 | c.3876G>A (p.Leu1292=) c.3507G>A (p.Leu1169=) n.3876G>A | dbSNP gnomAD v4 |
13 | g.32338231G>C | CA483438031 | BRCA2 | c.3876G>C (p.Leu1292=) c.3507G>C (p.Leu1169=) n.3876G>C | ClinVar dbSNP |
13 | g.32338231G>T | CA483438032 | BRCA2 | c.3876G>T (p.Leu1292=) c.3507G>T (p.Leu1169=) n.3876G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338231_32338233delinsGAT | CA2082821628 | BRCA2 | c.3876_3878delinsGAT (p.Leu1292=) c.3507_3509delinsGAT (p.Leu1169=) n.3876_3878delinsGAT | |
13 | g.32338232A= | CA2082821640 | BRCA2 | c.3877A= (p.Ile1293=) c.3508A= (p.Ile1170=) n.3877A= | |
13 | g.32338232A>C | CA10579593 | BRCA2 | c.3877A>C (p.Ile1293Leu) c.3508A>C (p.Ile1170Leu) n.3877A>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338232A>G | CA387778730 | BRCA2 | c.3877A>G (p.Ile1293Val) c.3508A>G (p.Ile1170Val) n.3877A>G | ClinVar dbSNP |
13 | g.32338232A>T | CA387778731 | BRCA2 | c.3877A>T (p.Ile1293Leu) c.3508A>T (p.Ile1170Leu) n.3877A>T | dbSNP gnomAD v4 |
13 | g.32338234_32338235del | CA913188541 | BRCA2 | c.3879_3880del (p.Leu1294ThrfsTer3) c.3510_3511del (p.Leu1171ThrfsTer3) n.3879_3880del | ClinVar dbSNP |
13 | g.32338233T>A | CA387778733 | BRCA2 | c.3878T>A (p.Ile1293Lys) c.3509T>A (p.Ile1170Lys) n.3878T>A | dbSNP |
13 | g.32338233T>C | CA387778734 | BRCA2 | c.3878T>C (p.Ile1293Thr) c.3509T>C (p.Ile1170Thr) n.3878T>C | |
13 | g.32338233T>G | CA387778735 | BRCA2 | c.3878T>G (p.Ile1293Arg) c.3509T>G (p.Ile1170Arg) n.3878T>G | dbSNP |
13 | g.32338235_32338237del | CA2739291773 | BRCA2 | c.3880_3882del (p.Leu1294del) c.3511_3513del (p.Leu1171del) n.3880_3882del | |
13 | g.32338233_32338238delinsTATTAC | CA2082821649 | BRCA2 | c.3878_3883delinsTATTAC (p.Ile1293=) c.3509_3514delinsTATTAC (p.Ile1170=) n.3878_3883delinsTATTAC | |
13 | g.32338234A>C | CA483438037 | BRCA2 | c.3879A>C (p.Ile1293=) c.3510A>C (p.Ile1170=) n.3879A>C | |
13 | g.32338234A>G | CA387778736 | BRCA2 | c.3879A>G (p.Ile1293Met) c.3510A>G (p.Ile1170Met) n.3879A>G | gnomAD v4 |
13 | g.32338234A>T | CA483438038 | BRCA2 | c.3879A>T (p.Ile1293=) c.3510A>T (p.Ile1170=) n.3879A>T | |
13 | g.32338234dup | CA1139771109 | BRCA2 | c.3879dup (p.Leu1294IlefsTer4) c.3510dup (p.Leu1171IlefsTer4) n.3879dup | |
13 | g.32338234_32338235delinsAT | CA2082821659 | BRCA2 | c.3879_3880delinsAT (p.Ile1293=) c.3510_3511delinsAT (p.Ile1170=) n.3879_3880delinsAT | |
13 | g.32338235_32338239del | CA913188542 | BRCA2 | c.3880_3884del (p.Leu1294LysfsTer2) c.3511_3515del (p.Leu1171LysfsTer2) n.3880_3884del | ClinVar dbSNP |
13 | g.32338235T>A | CA387778737 | BRCA2 | c.3880T>A (p.Leu1294Ile) c.3511T>A (p.Leu1171Ile) n.3880T>A | dbSNP |
13 | g.32338235T>C | CA019060 | BRCA2 | c.3880T>C (p.Leu1294=) c.3511T>C (p.Leu1171=) n.3880T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338235T>G | CA387778739 | BRCA2 | c.3880T>G (p.Leu1294Val) c.3511T>G (p.Leu1171Val) n.3880T>G | |
13 | g.32338235T= | CA2082821674 | BRCA2 | c.3880T= (p.Leu1294=) c.3511T= (p.Leu1171=) n.3880T= | |
13 | g.32338236del | CA16619700 | BRCA2 | c.3881del (p.Leu1294TyrfsTer7) c.3512del (p.Leu1171TyrfsTer7) n.3881del | ClinVar dbSNP |
13 | g.32338236T>A | CA019063 | BRCA2 | c.3881T>A (p.Leu1294Ter) c.3512T>A (p.Leu1171Ter) n.3881T>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338236T>C | CA387778740 | BRCA2 | c.3881T>C (p.Leu1294Ser) c.3512T>C (p.Leu1171Ser) n.3881T>C | dbSNP |
13 | g.32338236T>G | CA10589230 | BRCA2 | c.3881T>G (p.Leu1294Ter) c.3512T>G (p.Leu1171Ter) n.3881T>G | ClinVar dbSNP |
13 | g.32338236T= | CA2082821685 | BRCA2 | c.3881T= (p.Leu1294=) c.3512T= (p.Leu1171=) n.3881T= | |
13 | g.32338237A>C | CA387778742 | BRCA2 | c.3882A>C (p.Leu1294Phe) c.3513A>C (p.Leu1171Phe) n.3882A>C | |
13 | g.32338237A>G | CA483438041 | BRCA2 | c.3882A>G (p.Leu1294=) c.3513A>G (p.Leu1171=) n.3882A>G | ClinVar |
13 | g.32338237A>T | CA387778741 | BRCA2 | c.3882A>T (p.Leu1294Phe) c.3513A>T (p.Leu1171Phe) n.3882A>T | dbSNP |
13 | g.32338238C>A | CA387778744 | BRCA2 | c.3883C>A (p.Gln1295Lys) c.3514C>A (p.Gln1172Lys) n.3883C>A | dbSNP gnomAD v4 |
13 | g.32338238C= | CA2082821695 | BRCA2 | c.3883C= (p.Gln1295=) c.3514C= (p.Gln1172=) n.3883C= | |
13 | g.32338238C>G | CA387778745 | BRCA2 | c.3883C>G (p.Gln1295Glu) c.3514C>G (p.Gln1172Glu) n.3883C>G | dbSNP |
13 | g.32338238C>T | CA10585895 | BRCA2 | c.3883C>T (p.Gln1295Ter) c.3514C>T (p.Gln1172Ter) n.3883C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338238_32338239delinsCA | CA2082821694 | BRCA2 | c.3883_3884delinsCA (p.Gln1295=) c.3514_3515delinsCA (p.Gln1172=) n.3883_3884delinsCA | |
13 | g.32338239A>C | CA387778747 | BRCA2 | c.3884A>C (p.Gln1295Pro) c.3515A>C (p.Gln1172Pro) n.3884A>C | |
13 | g.32338239A>G | CA387778748 | BRCA2 | c.3884A>G (p.Gln1295Arg) c.3515A>G (p.Gln1172Arg) n.3884A>G | dbSNP |
13 | g.32338239A>T | CA387778750 | BRCA2 | c.3884A>T (p.Gln1295Leu) c.3515A>T (p.Gln1172Leu) n.3884A>T | |
13 | g.32338242del | CA019069 | BRCA2 | c.3887del (p.Asn1296IlefsTer5) c.3518del (p.Asn1173IlefsTer5) n.3887del | ClinVar dbSNP |
13 | g.32338240A= | CA2082821707 | BRCA2 | c.3885A= (p.Gln1295=) c.3516A= (p.Gln1172=) n.3885A= | |
13 | g.32338240A>C | CA387778752 | BRCA2 | c.3885A>C (p.Gln1295His) c.3516A>C (p.Gln1172His) n.3885A>C | ClinVar dbSNP |
13 | g.32338240A>G | CA10579594 | BRCA2 | c.3885A>G (p.Gln1295=) c.3516A>G (p.Gln1172=) n.3885A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338240A>T | CA387778753 | BRCA2 | c.3885A>T (p.Gln1295His) c.3516A>T (p.Gln1172His) n.3885A>T | |
13 | g.32338241A= | CA2082821715 | BRCA2 | c.3886A= (p.Asn1296=) c.3517A= (p.Asn1173=) n.3886A= | |
13 | g.32338241A>C | CA387778754 | BRCA2 | c.3886A>C (p.Asn1296His) c.3517A>C (p.Asn1173His) n.3886A>C | |
13 | g.32338241A>G | CA387778755 | BRCA2 | c.3886A>G (p.Asn1296Asp) c.3517A>G (p.Asn1173Asp) n.3886A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338241A>T | CA387778756 | BRCA2 | c.3886A>T (p.Asn1296Tyr) c.3517A>T (p.Asn1173Tyr) n.3886A>T | |
13 | g.32338245_32338247del | CA2580614665 | BRCA2 | c.3890_3892del (p.Asn1297del) c.3521_3523del (p.Asn1174del) n.3890_3892del | ClinVar gnomAD v4 |
13 | g.32338242A>C | CA387778757 | BRCA2 | c.3887A>C (p.Asn1296Thr) c.3518A>C (p.Asn1173Thr) n.3887A>C | |
13 | g.32338242A>G | CA387778758 | BRCA2 | c.3887A>G (p.Asn1296Ser) c.3518A>G (p.Asn1173Ser) n.3887A>G | ClinVar |
13 | g.32338242A>T | CA387778759 | BRCA2 | c.3887A>T (p.Asn1296Ile) c.3518A>T (p.Asn1173Ile) n.3887A>T | |
13 | g.32338243T>A | CA387778760 | BRCA2 | c.3888T>A (p.Asn1296Lys) c.3519T>A (p.Asn1173Lys) n.3888T>A | |
13 | g.32338243T>C | CA483437819 | BRCA2 | c.3888T>C (p.Asn1296=) c.3519T>C (p.Asn1173=) n.3888T>C | |
13 | g.32338243T>G | CA387778761 | BRCA2 | c.3888T>G (p.Asn1296Lys) c.3519T>G (p.Asn1173Lys) n.3888T>G | ClinVar dbSNP |
13 | g.32338244A>C | CA387778762 | BRCA2 | c.3889A>C (p.Asn1297His) c.3520A>C (p.Asn1174His) n.3889A>C | |
13 | g.32338244A>G | CA387778763 | BRCA2 | c.3889A>G (p.Asn1297Asp) c.3520A>G (p.Asn1174Asp) n.3889A>G | dbSNP |
13 | g.32338244A>T | CA387778764 | BRCA2 | c.3889A>T (p.Asn1297Tyr) c.3520A>T (p.Asn1174Tyr) n.3889A>T | dbSNP |
13 | g.32338245A>C | CA387778765 | BRCA2 | c.3890A>C (p.Asn1297Thr) c.3521A>C (p.Asn1174Thr) n.3890A>C | |
13 | g.32338245A>G | CA387778766 | BRCA2 | c.3890A>G (p.Asn1297Ser) c.3521A>G (p.Asn1174Ser) n.3890A>G | ClinVar |
13 | g.32338245A>T | CA387778767 | BRCA2 | c.3890A>T (p.Asn1297Ile) c.3521A>T (p.Asn1174Ile) n.3890A>T | dbSNP |
13 | g.32338246T>A | CA387778768 | BRCA2 | c.3891T>A (p.Asn1297Lys) c.3522T>A (p.Asn1174Lys) n.3891T>A | ClinVar dbSNP |
13 | g.32338246T>C | CA483437825 | BRCA2 | c.3891T>C (p.Asn1297=) c.3522T>C (p.Asn1174=) n.3891T>C | ClinVar dbSNP |
13 | g.32338246T>G | CA387778769 | BRCA2 | c.3891T>G (p.Asn1297Lys) c.3522T>G (p.Asn1174Lys) n.3891T>G | |
13 | g.32338246T= | CA2082821722 | BRCA2 | c.3891T= (p.Asn1297=) c.3522T= (p.Asn1174=) n.3891T= | |
13 | g.32338247A>C | CA387778770 | BRCA2 | c.3892A>C (p.Ile1298Leu) c.3523A>C (p.Ile1175Leu) n.3892A>C | |
13 | g.32338247A>G | CA387778771 | BRCA2 | c.3892A>G (p.Ile1298Val) c.3523A>G (p.Ile1175Val) n.3892A>G | ClinVar |
13 | g.32338247A>T | CA387778772 | BRCA2 | c.3892A>T (p.Ile1298Phe) c.3523A>T (p.Ile1175Phe) n.3892A>T | |
13 | g.32338248T>A | CA387778774 | BRCA2 | c.3893T>A (p.Ile1298Asn) c.3524T>A (p.Ile1175Asn) n.3893T>A | ClinVar dbSNP |
13 | g.32338248T>C | CA019075 | BRCA2 | c.3893T>C (p.Ile1298Thr) c.3524T>C (p.Ile1175Thr) n.3893T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338248T>G | CA387778773 | BRCA2 | c.3893T>G (p.Ile1298Ser) c.3524T>G (p.Ile1175Ser) n.3893T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338248T= | CA2082821731 | BRCA2 | c.3893T= (p.Ile1298=) c.3524T= (p.Ile1175=) n.3893T= | |
13 | g.32338249T>A | CA019081 | BRCA2 | c.3894T>A (p.Ile1298=) c.3525T>A (p.Ile1175=) n.3894T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338249T>C | CA247506122 | BRCA2 | c.3894T>C (p.Ile1298=) c.3525T>C (p.Ile1175=) n.3894T>C | dbSNP gnomAD v4 |
13 | g.32338249T>G | CA387778775 | BRCA2 | c.3894T>G (p.Ile1298Met) c.3525T>G (p.Ile1175Met) n.3894T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338249T= | CA2082821743 | BRCA2 | c.3894T= (p.Ile1298=) c.3525T= (p.Ile1175=) n.3894T= | |
13 | g.32338249_32338252delinsTGAA | CA2082821754 | BRCA2 | c.3894_3897delinsTGAA (p.Ile1298=) c.3525_3528delinsTGAA (p.Ile1175=) n.3894_3897delinsTGAA | |
13 | g.32338252_32338256del | CA2499222147 | BRCA2 | c.3897_3901del (p.Glu1299AspfsTer7) c.3528_3532del (p.Glu1176AspfsTer7) n.3897_3901del | ClinVar |
13 | g.32338250del | CA2573149352 | BRCA2 | c.3895del (p.Glu1299LysfsTer2) c.3526del (p.Glu1176LysfsTer2) n.3895del | ClinVar dbSNP |
13 | g.32338250G>A | CA387778776 | BRCA2 | c.3895G>A (p.Glu1299Lys) c.3526G>A (p.Glu1176Lys) n.3895G>A | dbSNP |
13 | g.32338250G>C | CA387778777 | BRCA2 | c.3895G>C (p.Glu1299Gln) c.3526G>C (p.Glu1176Gln) n.3895G>C | dbSNP |
13 | g.32338250G>T | CA387778778 | BRCA2 | c.3895G>T (p.Glu1299Ter) c.3526G>T (p.Glu1176Ter) n.3895G>T | ClinVar gnomAD v4 |
13 | g.32338250_32338252del | CA019086 | BRCA2 | c.3895_3897del (p.Glu1299del) c.3526_3528del (p.Glu1176del) n.3895_3897del | ClinVar dbSNP |
13 | g.32338251A= | CA2082821770 | BRCA2 | c.3896A= (p.Glu1299=) c.3527A= (p.Glu1176=) n.3896A= | |
13 | g.32338251A>C | CA387778779 | BRCA2 | c.3896A>C (p.Glu1299Ala) c.3527A>C (p.Glu1176Ala) n.3896A>C | |
13 | g.32338251A>G | CA387778780 | BRCA2 | c.3896A>G (p.Glu1299Gly) c.3527A>G (p.Glu1176Gly) n.3896A>G | dbSNP gnomAD v4 |
13 | g.32338251A>T | CA387778781 | BRCA2 | c.3896A>T (p.Glu1299Val) c.3527A>T (p.Glu1176Val) n.3896A>T | dbSNP |
13 | g.32338253del | CA645585167 | BRCA2 | c.3898del (p.Met1300Ter) c.3529del (p.Met1177Ter) n.3898del | COSMIC COSMIC |
13 | g.32338252A>C | CA387778783 | BRCA2 | c.3897A>C (p.Glu1299Asp) c.3528A>C (p.Glu1176Asp) n.3897A>C | |
13 | g.32338252A>G | CA483437831 | BRCA2 | c.3897A>G (p.Glu1299=) c.3528A>G (p.Glu1176=) n.3897A>G | gnomAD v4 |
13 | g.32338252A>T | CA387778782 | BRCA2 | c.3897A>T (p.Glu1299Asp) c.3528A>T (p.Glu1176Asp) n.3897A>T | |
13 | g.32338253A>C | CA387778784 | BRCA2 | c.3898A>C (p.Met1300Leu) c.3529A>C (p.Met1177Leu) n.3898A>C | |
13 | g.32338253A>G | CA387778785 | BRCA2 | c.3898A>G (p.Met1300Val) c.3529A>G (p.Met1177Val) n.3898A>G | ClinVar dbSNP |
13 | g.32338253A>T | CA387778786 | BRCA2 | c.3898A>T (p.Met1300Leu) c.3529A>T (p.Met1177Leu) n.3898A>T | dbSNP |
13 | g.32338254T>A | CA387778787 | BRCA2 | c.3899T>A (p.Met1300Lys) c.3530T>A (p.Met1177Lys) n.3899T>A | dbSNP |
13 | g.32338254T>C | CA387778788 | BRCA2 | c.3899T>C (p.Met1300Thr) c.3530T>C (p.Met1177Thr) n.3899T>C | |
13 | g.32338254T>G | CA387778789 | BRCA2 | c.3899T>G (p.Met1300Arg) c.3530T>G (p.Met1177Arg) n.3899T>G | |
13 | g.32338254T= | CA2082821778 | BRCA2 | c.3899T= (p.Met1300=) c.3530T= (p.Met1177=) n.3899T= | |
13 | g.32338254_32338257delinsTGAC | CA2082821776 | BRCA2 | c.3899_3902delinsTGAC (p.Met1300=) c.3530_3533delinsTGAC (p.Met1177=) n.3899_3902delinsTGAC | |
13 | g.32338254_32338260delinsTGACTAC | CA2082821774 | BRCA2 | c.3899_3905delinsTGACTAC (p.Met1300=) c.3530_3536delinsTGACTAC (p.Met1177=) n.3899_3905delinsTGACTAC | |
13 | g.32338255G>A | CA10579595 | BRCA2 | c.3900G>A (p.Met1300Ile) c.3531G>A (p.Met1177Ile) n.3900G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338255G>C | CA387778790 | BRCA2 | c.3900G>C (p.Met1300Ile) c.3531G>C (p.Met1177Ile) n.3900G>C | dbSNP |
13 | g.32338255G= | CA2082821804 | BRCA2 | c.3900G= (p.Met1300=) c.3531G= (p.Met1177=) n.3900G= | |
13 | g.32338255G>T | CA387778791 | BRCA2 | c.3900G>T (p.Met1300Ile) c.3531G>T (p.Met1177Ile) n.3900G>T | dbSNP gnomAD v4 |
13 | g.32338255_32338257del | CA019096 | BRCA2 | c.3900_3902del (p.Met1300_Thr1301delinsIle) c.3531_3533del (p.Met1177_Thr1178delinsIle) n.3900_3902del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338255_32338257dup | CA2082821800 | BRCA2 | c.3900_3902dup (p.Thr1301_Thr1302insThr) c.3531_3533dup (p.Thr1178_Thr1179insThr) n.3900_3902dup | dbSNP |
13 | g.32338255_32338258delinsGACT | CA2082821802 | BRCA2 | c.3900_3903delinsGACT (p.Met1300=) c.3531_3534delinsGACT (p.Met1177=) n.3900_3903delinsGACT | |
13 | g.32338255_32338260del | CA019101 | BRCA2 | c.3900_3905del (p.Met1300_Thr1302delinsIle) c.3531_3536del (p.Met1177_Thr1179delinsIle) n.3900_3905del | ClinVar dbSNP |
13 | g.32338256A= | CA2082821817 | BRCA2 | c.3901A= (p.Thr1301=) c.3532A= (p.Thr1178=) n.3901A= | |
13 | g.32338256A>C | CA387778793 | BRCA2 | c.3901A>C (p.Thr1301Pro) c.3532A>C (p.Thr1178Pro) n.3901A>C | dbSNP |
13 | g.32338256A>G | CA387778792 | BRCA2 | c.3901A>G (p.Thr1301Ala) c.3532A>G (p.Thr1178Ala) n.3901A>G | ClinVar dbSNP |
13 | g.32338256A>T | CA6940732 | BRCA2 | c.3901A>T (p.Thr1301Ser) c.3532A>T (p.Thr1178Ser) n.3901A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338259_32338261del | CA019106 | BRCA2 | c.3904_3906del (p.Thr1302del) c.3535_3537del (p.Thr1179del) n.3904_3906del | ClinVar dbSNP |
13 | g.32338257C>A | CA387778794 | BRCA2 | c.3902C>A (p.Thr1301Asn) c.3533C>A (p.Thr1178Asn) n.3902C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338257C= | CA2082821833 | BRCA2 | c.3902C= (p.Thr1301=) c.3533C= (p.Thr1178=) n.3902C= | |
13 | g.32338257C>G | CA387778795 | BRCA2 | c.3902C>G (p.Thr1301Ser) c.3533C>G (p.Thr1178Ser) n.3902C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338257C>T | CA387778796 | BRCA2 | c.3902C>T (p.Thr1301Ile) c.3533C>T (p.Thr1178Ile) n.3902C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338258T>A | CA483437839 | BRCA2 | c.3903T>A (p.Thr1301=) c.3534T>A (p.Thr1178=) n.3903T>A | dbSNP |
13 | g.32338258T>C | CA16606784 | BRCA2 | c.3903T>C (p.Thr1301=) c.3534T>C (p.Thr1178=) n.3903T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338258T>G | CA483437840 | BRCA2 | c.3903T>G (p.Thr1301=) c.3534T>G (p.Thr1178=) n.3903T>G | ClinVar dbSNP |
13 | g.32338258T= | CA2082821841 | BRCA2 | c.3903T= (p.Thr1301=) c.3534T= (p.Thr1178=) n.3903T= | |
13 | g.32338259A= | CA2082821873 | BRCA2 | c.3904A= (p.Thr1302=) c.3535A= (p.Thr1179=) n.3904A= | |
13 | g.32338259A>C | CA387778797 | BRCA2 | c.3904A>C (p.Thr1302Pro) c.3535A>C (p.Thr1179Pro) n.3904A>C | dbSNP |
13 | g.32338259A>G | CA019114 | BRCA2 | c.3904A>G (p.Thr1302Ala) c.3535A>G (p.Thr1179Ala) n.3904A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338259A>T | CA6940733 | BRCA2 | c.3904A>T (p.Thr1302Ser) c.3535A>T (p.Thr1179Ser) n.3904A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338260C>A | CA019121 | BRCA2 | c.3905C>A (p.Thr1302Asn) c.3536C>A (p.Thr1179Asn) n.3905C>A | ClinVar dbSNP |
13 | g.32338260C= | CA2082821902 | BRCA2 | c.3905C= (p.Thr1302=) c.3536C= (p.Thr1179=) n.3905C= | |
13 | g.32338260C>G | CA387778798 | BRCA2 | c.3905C>G (p.Thr1302Ser) c.3536C>G (p.Thr1179Ser) n.3905C>G | |
13 | g.32338260C>T | CA247506143 | BRCA2 | c.3905C>T (p.Thr1302Ile) c.3536C>T (p.Thr1179Ile) n.3905C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338260_32338261delinsCT | CA2082821886 | BRCA2 | c.3905_3906delinsCT (p.Thr1302=) c.3536_3537delinsCT (p.Thr1179=) n.3905_3906delinsCT | |
13 | g.32338261del | CA658798133 | BRCA2 | c.3906del (p.Gly1303AlafsTer?) c.3537del (p.Gly1180AlafsTer?) n.3906del | ClinVar dbSNP |
13 | g.32338261T>A | CA483437845 | BRCA2 | c.3906T>A (p.Thr1302=) c.3537T>A (p.Thr1179=) n.3906T>A | gnomAD v4 |
13 | g.32338261T>C | CA483437846 | BRCA2 | c.3906T>C (p.Thr1302=) c.3537T>C (p.Thr1179=) n.3906T>C | ClinVar |
13 | g.32338261T>G | CA483437848 | BRCA2 | c.3906T>G (p.Thr1302=) c.3537T>G (p.Thr1179=) n.3906T>G | |
13 | g.32338262G>A | CA387778799 | BRCA2 | c.3907G>A (p.Gly1303Ser) c.3538G>A (p.Gly1180Ser) n.3907G>A | ClinVar dbSNP |
13 | g.32338262G>C | CA387778800 | BRCA2 | c.3907G>C (p.Gly1303Arg) c.3538G>C (p.Gly1180Arg) n.3907G>C | dbSNP |
13 | g.32338262G= | CA2082821914 | BRCA2 | c.3907G= (p.Gly1303=) c.3538G= (p.Gly1180=) n.3907G= | |
13 | g.32338262G>T | CA387778801 | BRCA2 | c.3907G>T (p.Gly1303Cys) c.3538G>T (p.Gly1180Cys) n.3907G>T | dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32338263G>A | CA019126 | BRCA2 | c.3908G>A (p.Gly1303Asp) c.3539G>A (p.Gly1180Asp) n.3908G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338263G>C | CA387778803 | BRCA2 | c.3908G>C (p.Gly1303Ala) c.3539G>C (p.Gly1180Ala) n.3908G>C | dbSNP |
13 | g.32338263G= | CA2082821924 | BRCA2 | c.3908G= (p.Gly1303=) c.3539G= (p.Gly1180=) n.3908G= | |
13 | g.32338263G>T | CA387778802 | BRCA2 | c.3908G>T (p.Gly1303Val) c.3539G>T (p.Gly1180Val) n.3908G>T | dbSNP gnomAD v4 |
13 | g.32338263_32338264delinsAA | CA2739277537 | BRCA2 | c.3908_3909delinsAA (p.Gly1303Glu) c.3539_3540delinsAA (p.Gly1180Glu) n.3908_3909delinsAA | ClinVar |
13 | g.32338264C>A | CA019132 | BRCA2 | c.3909C>A (p.Gly1303=) c.3540C>A (p.Gly1180=) n.3909C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338264C= | CA2082821931 | BRCA2 | c.3909C= (p.Gly1303=) c.3540C= (p.Gly1180=) n.3909C= | |
13 | g.32338264C>G | CA483437854 | BRCA2 | c.3909C>G (p.Gly1303=) c.3540C>G (p.Gly1180=) n.3909C>G | dbSNP |
13 | g.32338264C>T | CA483437852 | BRCA2 | c.3909C>T (p.Gly1303=) c.3540C>T (p.Gly1180=) n.3909C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338265A= | CA2082821948 | BRCA2 | c.3910A= (p.Thr1304=) c.3541A= (p.Thr1181=) n.3910A= | |
13 | g.32338265A>C | CA387778804 | BRCA2 | c.3910A>C (p.Thr1304Pro) c.3541A>C (p.Thr1181Pro) n.3910A>C | dbSNP |
13 | g.32338265A>G | CA019137 | BRCA2 | c.3910A>G (p.Thr1304Ala) c.3541A>G (p.Thr1181Ala) n.3910A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338265A>T | CA387778805 | BRCA2 | c.3910A>T (p.Thr1304Ser) c.3541A>T (p.Thr1181Ser) n.3910A>T | dbSNP |
13 | g.32338265_32338266delinsAC | CA2082821944 | BRCA2 | c.3910_3911delinsAC (p.Thr1304=) c.3541_3542delinsAC (p.Thr1181=) n.3910_3911delinsAC | |
13 | g.32338266del | CA019141 | BRCA2 | c.3911del (p.Thr1304IlefsTer?) c.3542del (p.Thr1181IlefsTer?) n.3911del | ClinVar dbSNP |
13 | g.32338266C>A | CA387778808 | BRCA2 | c.3911C>A (p.Thr1304Asn) c.3542C>A (p.Thr1181Asn) n.3911C>A | |
13 | g.32338266C= | CA2082821960 | BRCA2 | c.3911C= (p.Thr1304=) c.3542C= (p.Thr1181=) n.3911C= | |
13 | g.32338266C>G | CA387778806 | BRCA2 | c.3911C>G (p.Thr1304Ser) c.3542C>G (p.Thr1181Ser) n.3911C>G | ClinVar dbSNP |
13 | g.32338266C>T | CA387778807 | BRCA2 | c.3911C>T (p.Thr1304Ile) c.3542C>T (p.Thr1181Ile) n.3911C>T | ClinVar dbSNP |
13 | g.32338266_32338268delinsCTT | CA2082821963 | BRCA2 | c.3911_3913delinsCTT (p.Thr1304=) c.3542_3544delinsCTT (p.Thr1181=) n.3911_3913delinsCTT | |
13 | g.32338267T>A | CA483437862 | BRCA2 | c.3912T>A (p.Thr1304=) c.3543T>A (p.Thr1181=) n.3912T>A | dbSNP |
13 | g.32338267T>C | CA483437863 | BRCA2 | c.3912T>C (p.Thr1304=) c.3543T>C (p.Thr1181=) n.3912T>C | dbSNP gnomAD v4 |
13 | g.32338267T>G | CA483437864 | BRCA2 | c.3912T>G (p.Thr1304=) c.3543T>G (p.Thr1181=) n.3912T>G | |
13 | g.32338270del | CA019164 | BRCA2 | c.3915del (p.Phe1305LeufsTer30) c.3546del (p.Phe1182LeufsTer30) n.3915del | ClinVar dbSNP |
13 | g.32338269_32338270del | CA913190942 | BRCA2 | c.3914_3915del (p.Phe1305CysfsTer2) c.3545_3546del (p.Phe1182CysfsTer2) n.3914_3915del | ClinVar dbSNP |
13 | g.32338268T>A | CA387778809 | BRCA2 | c.3913T>A (p.Phe1305Ile) c.3544T>A (p.Phe1182Ile) n.3913T>A | dbSNP |
13 | g.32338268T>C | CA387778810 | BRCA2 | c.3913T>C (p.Phe1305Leu) c.3544T>C (p.Phe1182Leu) n.3913T>C | dbSNP |
13 | g.32338268T>G | CA387778811 | BRCA2 | c.3913T>G (p.Phe1305Val) c.3544T>G (p.Phe1182Val) n.3913T>G | |
13 | g.32338269T>A | CA387778812 | BRCA2 | c.3914T>A (p.Phe1305Tyr) c.3545T>A (p.Phe1182Tyr) n.3914T>A | dbSNP |
13 | g.32338269T>C | CA019159 | BRCA2 | c.3914T>C (p.Phe1305Ser) c.3545T>C (p.Phe1182Ser) n.3914T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338269T>G | CA387778813 | BRCA2 | c.3914T>G (p.Phe1305Cys) c.3545T>G (p.Phe1182Cys) n.3914T>G | gnomAD v4 |
13 | g.32338269T= | CA2082821995 | BRCA2 | c.3914T= (p.Phe1305=) c.3545T= (p.Phe1182=) n.3914T= | |
13 | g.32338272_32338274del | CA2580614667 | BRCA2 | c.3917_3919del (p.Val1306del) c.3548_3550del (p.Val1183del) n.3917_3919del | ClinVar dbSNP gnomAD v4 |
13 | g.32338270T>A | CA387778814 | BRCA2 | c.3915T>A (p.Phe1305Leu) c.3546T>A (p.Phe1182Leu) n.3915T>A | dbSNP |
13 | g.32338270T>C | CA483437866 | BRCA2 | c.3915T>C (p.Phe1305=) c.3546T>C (p.Phe1182=) n.3915T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338270T>G | CA387778815 | BRCA2 | c.3915T>G (p.Phe1305Leu) c.3546T>G (p.Phe1182Leu) n.3915T>G | |
13 | g.32338270T= | CA2082822010 | BRCA2 | c.3915T= (p.Phe1305=) c.3546T= (p.Phe1182=) n.3915T= | |
13 | g.32338271G>A | CA019173 | BRCA2 | c.3916G>A (p.Val1306Ile) c.3547G>A (p.Val1183Ile) n.3916G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338271G>C | CA387778816 | BRCA2 | c.3916G>C (p.Val1306Leu) c.3547G>C (p.Val1183Leu) n.3916G>C | dbSNP gnomAD v4 |
13 | g.32338271G= | CA2082822019 | BRCA2 | c.3916G= (p.Val1306=) c.3547G= (p.Val1183=) n.3916G= | |
13 | g.32338271G>T | CA387778817 | BRCA2 | c.3916G>T (p.Val1306Phe) c.3547G>T (p.Val1183Phe) n.3916G>T | |
13 | g.32338272T>A | CA387778819 | BRCA2 | c.3917T>A (p.Val1306Asp) c.3548T>A (p.Val1183Asp) n.3917T>A | dbSNP |
13 | g.32338272T>C | CA019180 | BRCA2 | c.3917T>C (p.Val1306Ala) c.3548T>C (p.Val1183Ala) n.3917T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338272T>G | CA387778818 | BRCA2 | c.3917T>G (p.Val1306Gly) c.3548T>G (p.Val1183Gly) n.3917T>G | |
13 | g.32338272T= | CA2082822028 | BRCA2 | c.3917T= (p.Val1306=) c.3548T= (p.Val1183=) n.3917T= | |
13 | g.32338273T>A | CA483437870 | BRCA2 | c.3918T>A (p.Val1306=) c.3549T>A (p.Val1183=) n.3918T>A | dbSNP |
13 | g.32338273T>C | CA483437871 | BRCA2 | c.3918T>C (p.Val1306=) c.3549T>C (p.Val1183=) n.3918T>C | dbSNP |
13 | g.32338273T>G | CA483437872 | BRCA2 | c.3918T>G (p.Val1306=) c.3549T>G (p.Val1183=) n.3918T>G | |
13 | g.32338273_32338274delinsTG | CA2082822032 | BRCA2 | c.3918_3919delinsTG (p.Val1306=) c.3549_3550delinsTG (p.Val1183=) n.3918_3919delinsTG | |
13 | g.32338273_32338276delinsTGAA | CA2082822037 | BRCA2 | c.3918_3921delinsTGAA (p.Val1306=) c.3549_3552delinsTGAA (p.Val1183=) n.3918_3921delinsTGAA | |
13 | g.32338274del | CA019184 | BRCA2 | c.3919del (p.Glu1307LysfsTer28) c.3550del (p.Glu1184LysfsTer28) n.3919del | ClinVar dbSNP |
13 | g.32338274G>A | CA387778820 | BRCA2 | c.3919G>A (p.Glu1307Lys) c.3550G>A (p.Glu1184Lys) n.3919G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338274G>C | CA387778821 | BRCA2 | c.3919G>C (p.Glu1307Gln) c.3550G>C (p.Glu1184Gln) n.3919G>C | dbSNP |
13 | g.32338274G>T | CA387778822 | BRCA2 | c.3919G>T (p.Glu1307Ter) c.3550G>T (p.Glu1184Ter) n.3919G>T | dbSNP gnomAD v4 |
13 | g.32338274dup | CA2697551723 | BRCA2 | c.3919dup (p.Glu1307GlyfsTer5) c.3550dup (p.Glu1184GlyfsTer5) n.3919dup | ClinVar |
13 | g.32338277_32338279del | CA891844452 | BRCA2 | c.3922_3924del (p.Glu1308del) c.3553_3555del (p.Glu1185del) n.3922_3924del | ClinVar dbSNP |
13 | g.32338274_32338296delinsGAAGAAATTACTGAAAATTACAA | CA2082822056 | BRCA2 | c.3919_3941delinsGAAGAAATTACTGAAAATTACAA (p.Glu1307=) c.3550_3572delinsGAAGAAATTACTGAAAATTACAA (p.Glu1184=) n.3919_3941delinsGAAGAAATTACTGAAAATTACAA | |
13 | g.32338275A= | CA2082822068 | BRCA2 | c.3920A= (p.Glu1307=) c.3551A= (p.Glu1184=) n.3920A= | |
13 | g.32338275A>C | CA387778823 | BRCA2 | c.3920A>C (p.Glu1307Ala) c.3551A>C (p.Glu1184Ala) n.3920A>C | |
13 | g.32338275A>G | CA387778824 | BRCA2 | c.3920A>G (p.Glu1307Gly) c.3551A>G (p.Glu1184Gly) n.3920A>G | ClinVar dbSNP |
13 | g.32338275A>T | CA387778825 | BRCA2 | c.3920A>T (p.Glu1307Val) c.3551A>T (p.Glu1184Val) n.3920A>T | dbSNP |
13 | g.32338275_32338296del | CA10589231 | BRCA2 | c.3920_3941del (p.Glu1307GlyfsTer21) c.3551_3572del (p.Glu1184GlyfsTer21) n.3920_3941del | ClinVar dbSNP |
13 | g.32338276A>C | CA387778827 | BRCA2 | c.3921A>C (p.Glu1307Asp) c.3552A>C (p.Glu1184Asp) n.3921A>C | |
13 | g.32338276A>G | CA483437881 | BRCA2 | c.3921A>G (p.Glu1307=) c.3552A>G (p.Glu1184=) n.3921A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338276A>T | CA387778828 | BRCA2 | c.3921A>T (p.Glu1307Asp) c.3552A>T (p.Glu1184Asp) n.3921A>T | |
13 | g.32338277G>A | CA387778829 | BRCA2 | c.3922G>A (p.Glu1308Lys) c.3553G>A (p.Glu1185Lys) n.3922G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338277G>C | CA387778830 | BRCA2 | c.3922G>C (p.Glu1308Gln) c.3553G>C (p.Glu1185Gln) n.3922G>C | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32338277G= | CA2082822081 | BRCA2 | c.3922G= (p.Glu1308=) c.3553G= (p.Glu1185=) n.3922G= | |
13 | g.32338277G>T | CA019195 | BRCA2 | c.3922G>T (p.Glu1308Ter) c.3553G>T (p.Glu1185Ter) n.3922G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338278A>C | CA387778833 | BRCA2 | c.3923A>C (p.Glu1308Ala) c.3554A>C (p.Glu1185Ala) n.3923A>C | ClinVar dbSNP |
13 | g.32338278A>G | CA387778832 | BRCA2 | c.3923A>G (p.Glu1308Gly) c.3554A>G (p.Glu1185Gly) n.3923A>G | |
13 | g.32338278A>T | CA387778831 | BRCA2 | c.3923A>T (p.Glu1308Val) c.3554A>T (p.Glu1185Val) n.3923A>T | |
13 | g.32338280del | CA2739277538 | BRCA2 | c.3925del (p.Ile1309LeufsTer26) c.3556del (p.Ile1186LeufsTer26) n.3925del | ClinVar |
13 | g.32338279A>C | CA387778834 | BRCA2 | c.3924A>C (p.Glu1308Asp) c.3555A>C (p.Glu1185Asp) n.3924A>C | ClinVar |
13 | g.32338279A>G | CA483437884 | BRCA2 | c.3924A>G (p.Glu1308=) c.3555A>G (p.Glu1185=) n.3924A>G | dbSNP |
13 | g.32338279A>T | CA387778835 | BRCA2 | c.3924A>T (p.Glu1308Asp) c.3555A>T (p.Glu1185Asp) n.3924A>T | |
13 | g.32338280A= | CA2082822099 | BRCA2 | c.3925A= (p.Ile1309=) c.3556A= (p.Ile1186=) n.3925A= | |
13 | g.32338280A>C | CA387778836 | BRCA2 | c.3925A>C (p.Ile1309Leu) c.3556A>C (p.Ile1186Leu) n.3925A>C | |
13 | g.32338280A>G | CA019203 | BRCA2 | c.3925A>G (p.Ile1309Val) c.3556A>G (p.Ile1186Val) n.3925A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338280A>T | CA387778837 | BRCA2 | c.3925A>T (p.Ile1309Phe) c.3556A>T (p.Ile1186Phe) n.3925A>T | |
13 | g.32338281T>A | CA387778838 | BRCA2 | c.3926T>A (p.Ile1309Asn) c.3557T>A (p.Ile1186Asn) n.3926T>A | gnomAD v4 |
13 | g.32338281T>C | CA387778839 | BRCA2 | c.3926T>C (p.Ile1309Thr) c.3557T>C (p.Ile1186Thr) n.3926T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338281T>G | CA387778840 | BRCA2 | c.3926T>G (p.Ile1309Ser) c.3557T>G (p.Ile1186Ser) n.3926T>G | ClinVar dbSNP |
13 | g.32338281T= | CA2082822116 | BRCA2 | c.3926T= (p.Ile1309=) c.3557T= (p.Ile1186=) n.3926T= | |
13 | g.32338281_32338282del | CA2825002133 | BRCA2 | c.3926_3927del (p.Ile1309AsnfsTer2) c.3557_3558del (p.Ile1186AsnfsTer2) n.3926_3927del | ClinVar |