Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32337846_32337848del | CA658683865 | BRCA2 | c.3491_3493del (p.Leu1164del) c.3122_3124del (p.Leu1041del) n.3491_3493del | ClinVar dbSNP |
13 | g.32337848del | CA2580087085 | BRCA2 | c.3493del (p.His1165MetfsTer3) c.3124del (p.His1042MetfsTer3) n.3493del | ClinVar |
13 | g.32337848C>A | CA387776914 | BRCA2 | c.3493C>A (p.His1165Asn) c.3124C>A (p.His1042Asn) n.3493C>A | dbSNP gnomAD v4 |
13 | g.32337848C>G | CA387776913 | BRCA2 | c.3493C>G (p.His1165Asp) c.3124C>G (p.His1042Asp) n.3493C>G | dbSNP |
13 | g.32337848C>T | CA387776912 | BRCA2 | c.3493C>T (p.His1165Tyr) c.3124C>T (p.His1042Tyr) n.3493C>T | ClinVar dbSNP COSMIC COSMIC |
13 | g.32337849A= | CA2082817809 | BRCA2 | c.3494A= (p.His1165=) c.3125A= (p.His1042=) n.3494A= | |
13 | g.32337849A>C | CA387776915 | BRCA2 | c.3494A>C (p.His1165Pro) c.3125A>C (p.His1042Pro) n.3494A>C | gnomAD v4 |
13 | g.32337849A>G | CA018167 | BRCA2 | c.3494A>G (p.His1165Arg) c.3125A>G (p.His1042Arg) n.3494A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337849A>T | CA387776918 | BRCA2 | c.3494A>T (p.His1165Leu) c.3125A>T (p.His1042Leu) n.3494A>T | ClinVar dbSNP |
13 | g.32337850T>A | CA387776921 | BRCA2 | c.3495T>A (p.His1165Gln) c.3126T>A (p.His1042Gln) n.3495T>A | dbSNP |
13 | g.32337850T>C | CA018171 | BRCA2 | c.3495T>C (p.His1165=) c.3126T>C (p.His1042=) n.3495T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337850T>G | CA387776924 | BRCA2 | c.3495T>G (p.His1165Gln) c.3126T>G (p.His1042Gln) n.3495T>G | ClinVar dbSNP |
13 | g.32337850T= | CA2082817816 | BRCA2 | c.3495T= (p.His1165=) c.3126T= (p.His1042=) n.3495T= | |
13 | g.32337851G>A | CA018177 | BRCA2 | c.3496G>A (p.Val1166Ile) c.3127G>A (p.Val1043Ile) n.3496G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337851G>C | CA387776926 | BRCA2 | c.3496G>C (p.Val1166Leu) c.3127G>C (p.Val1043Leu) n.3496G>C | dbSNP |
13 | g.32337851G= | CA2082817830 | BRCA2 | c.3496G= (p.Val1166=) c.3127G= (p.Val1043=) n.3496G= | |
13 | g.32337851G>T | CA387776925 | BRCA2 | c.3496G>T (p.Val1166Phe) c.3127G>T (p.Val1043Phe) n.3496G>T | dbSNP |
13 | g.32337851_32337852delinsGT | CA2082817832 | BRCA2 | c.3496_3497delinsGT (p.Val1166=) c.3127_3128delinsGT (p.Val1043=) n.3496_3497delinsGT | |
13 | g.32337851_32337854del | CA2573149319 | BRCA2 | c.3496_3499del (p.Val1166Ter) c.3127_3130del (p.Val1043Ter) n.3496_3499del | ClinVar dbSNP |
13 | g.32337852del | CA10589206 | BRCA2 | c.3497del (p.Val1166AlafsTer2) c.3128del (p.Val1043AlafsTer2) n.3497del | ClinVar dbSNP |
13 | g.32337852T>A | CA018181 | BRCA2 | c.3497T>A (p.Val1166Asp) c.3128T>A (p.Val1043Asp) n.3497T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337852T>C | CA6940701 | BRCA2 | c.3497T>C (p.Val1166Ala) c.3128T>C (p.Val1043Ala) n.3497T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337852T>G | CA387776929 | BRCA2 | c.3497T>G (p.Val1166Gly) c.3128T>G (p.Val1043Gly) n.3497T>G | dbSNP |
13 | g.32337852T= | CA2082817856 | BRCA2 | c.3497T= (p.Val1166=) c.3128T= (p.Val1043=) n.3497T= | |
13 | g.32337853C>A | CA483437562 | BRCA2 | c.3498C>A (p.Val1166=) c.3129C>A (p.Val1043=) n.3498C>A | gnomAD v4 |
13 | g.32337853C= | CA2082817861 | BRCA2 | c.3498C= (p.Val1166=) c.3129C= (p.Val1043=) n.3498C= | |
13 | g.32337853C>G | CA483437563 | BRCA2 | c.3498C>G (p.Val1166=) c.3129C>G (p.Val1043=) n.3498C>G | dbSNP |
13 | g.32337853C>T | CA483437564 | BRCA2 | c.3498C>T (p.Val1166=) c.3129C>T (p.Val1043=) n.3498C>T | dbSNP gnomAD v4 |
13 | g.32337853_32337855delinsCAT | CA2082817860 | BRCA2 | c.3498_3500delinsCAT (p.Val1166=) c.3129_3131delinsCAT (p.Val1043=) n.3498_3500delinsCAT | |
13 | g.32337854del | CA2695202246 | BRCA2 | c.3499del (p.Ile1167Ter) c.3130del (p.Ile1044Ter) n.3499del | |
13 | g.32337854A= | CA2082817872 | BRCA2 | c.3499A= (p.Ile1167=) c.3130A= (p.Ile1044=) n.3499A= | |
13 | g.32337854A>C | CA387776932 | BRCA2 | c.3499A>C (p.Ile1167Leu) c.3130A>C (p.Ile1044Leu) n.3499A>C | dbSNP |
13 | g.32337854A>G | CA018187 | BRCA2 | c.3499A>G (p.Ile1167Val) c.3130A>G (p.Ile1044Val) n.3499A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337854A>T | CA387776935 | BRCA2 | c.3499A>T (p.Ile1167Leu) c.3130A>T (p.Ile1044Leu) n.3499A>T | dbSNP |
13 | g.32337855_32337856del | CA018202 | BRCA2 | c.3500_3501del (p.Ile1167AsnfsTer16) c.3131_3132del (p.Ile1044AsnfsTer16) n.3500_3501del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337855T>A | CA387776938 | BRCA2 | c.3500T>A (p.Ile1167Lys) c.3131T>A (p.Ile1044Lys) n.3500T>A | |
13 | g.32337855T>C | CA387776940 | BRCA2 | c.3500T>C (p.Ile1167Thr) c.3131T>C (p.Ile1044Thr) n.3500T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337855T>G | CA387776943 | BRCA2 | c.3500T>G (p.Ile1167Arg) c.3131T>G (p.Ile1044Arg) n.3500T>G | |
13 | g.32337855T= | CA2082817887 | BRCA2 | c.3500T= (p.Ile1167=) c.3131T= (p.Ile1044=) n.3500T= | |
13 | g.32337856A= | CA2082817901 | BRCA2 | c.3501A= (p.Ile1167=) c.3132A= (p.Ile1044=) n.3501A= | |
13 | g.32337856A>C | CA483437571 | BRCA2 | c.3501A>C (p.Ile1167=) c.3132A>C (p.Ile1044=) n.3501A>C | |
13 | g.32337856A>G | CA387776945 | BRCA2 | c.3501A>G (p.Ile1167Met) c.3132A>G (p.Ile1044Met) n.3501A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337856A>T | CA483437569 | BRCA2 | c.3501A>T (p.Ile1167=) c.3132A>T (p.Ile1044=) n.3501A>T | dbSNP |
13 | g.32337857dup | CA10589207 | BRCA2 | c.3502dup (p.Met1168AsnfsTer16) c.3133dup (p.Met1045AsnfsTer16) n.3502dup | ClinVar dbSNP |
13 | g.32337857A>C | CA387776949 | BRCA2 | c.3502A>C (p.Met1168Leu) c.3133A>C (p.Met1045Leu) n.3502A>C | |
13 | g.32337857A>G | CA387776952 | BRCA2 | c.3502A>G (p.Met1168Val) c.3133A>G (p.Met1045Val) n.3502A>G | ClinVar dbSNP |
13 | g.32337857A>T | CA387776946 | BRCA2 | c.3502A>T (p.Met1168Leu) c.3133A>T (p.Met1045Leu) n.3502A>T | dbSNP |
13 | g.32337858T>A | CA018209 | BRCA2 | c.3503T>A (p.Met1168Lys) c.3134T>A (p.Met1045Lys) n.3503T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337858T>C | CA387776957 | BRCA2 | c.3503T>C (p.Met1168Thr) c.3134T>C (p.Met1045Thr) n.3503T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337858T>G | CA387776956 | BRCA2 | c.3503T>G (p.Met1168Arg) c.3134T>G (p.Met1045Arg) n.3503T>G | |
13 | g.32337858T= | CA2082817912 | BRCA2 | c.3503T= (p.Met1168=) c.3134T= (p.Met1045=) n.3503T= | |
13 | g.32337859G>A | CA387776960 | BRCA2 | c.3504G>A (p.Met1168Ile) c.3135G>A (p.Met1045Ile) n.3504G>A | |
13 | g.32337859G>C | CA387776962 | BRCA2 | c.3504G>C (p.Met1168Ile) c.3135G>C (p.Met1045Ile) n.3504G>C | |
13 | g.32337859G= | CA2082817926 | BRCA2 | c.3504G= (p.Met1168=) c.3135G= (p.Met1045=) n.3504G= | |
13 | g.32337859G>T | CA387776965 | BRCA2 | c.3504G>T (p.Met1168Ile) c.3135G>T (p.Met1045Ile) n.3504G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337860A>C | CA387776968 | BRCA2 | c.3505A>C (p.Asn1169His) c.3136A>C (p.Asn1046His) n.3505A>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337860A>G | CA387776969 | BRCA2 | c.3505A>G (p.Asn1169Asp) c.3136A>G (p.Asn1046Asp) n.3505A>G | dbSNP |
13 | g.32337860A>T | CA387776973 | BRCA2 | c.3505A>T (p.Asn1169Tyr) c.3136A>T (p.Asn1046Tyr) n.3505A>T | dbSNP |
13 | g.32337861del | CA658761205 | BRCA2 | c.3506del (p.Asn1169MetfsTer8) c.3137del (p.Asn1046MetfsTer8) n.3506del | |
13 | g.32337861A= | CA2082817955 | BRCA2 | c.3506A= (p.Asn1169=) c.3137A= (p.Asn1046=) n.3506A= | |
13 | g.32337861A>C | CA387776976 | BRCA2 | c.3506A>C (p.Asn1169Thr) c.3137A>C (p.Asn1046Thr) n.3506A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337861A>G | CA387776978 | BRCA2 | c.3506A>G (p.Asn1169Ser) c.3137A>G (p.Asn1046Ser) n.3506A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337861A>T | CA387776981 | BRCA2 | c.3506A>T (p.Asn1169Ile) c.3137A>T (p.Asn1046Ile) n.3506A>T | dbSNP |
13 | g.32337862T>A | CA387776984 | BRCA2 | c.3507T>A (p.Asn1169Lys) c.3138T>A (p.Asn1046Lys) n.3507T>A | dbSNP |
13 | g.32337862T>C | CA483437587 | BRCA2 | c.3507T>C (p.Asn1169=) c.3138T>C (p.Asn1046=) n.3507T>C | gnomAD v4 |
13 | g.32337862T>G | CA387776986 | BRCA2 | c.3507T>G (p.Asn1169Lys) c.3138T>G (p.Asn1046Lys) n.3507T>G | |
13 | g.32337863G>A | CA387776992 | BRCA2 | c.3508G>A (p.Ala1170Thr) c.3139G>A (p.Ala1047Thr) n.3508G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337863G>C | CA387776989 | BRCA2 | c.3508G>C (p.Ala1170Pro) c.3139G>C (p.Ala1047Pro) n.3508G>C | |
13 | g.32337863G= | CA2082817962 | BRCA2 | c.3508G= (p.Ala1170=) c.3139G= (p.Ala1047=) n.3508G= | |
13 | g.32337863G>T | CA387776987 | BRCA2 | c.3508G>T (p.Ala1170Ser) c.3139G>T (p.Ala1047Ser) n.3508G>T | |
13 | g.32337863_32337864delinsGC | CA2082817967 | BRCA2 | c.3508_3509delinsGC (p.Ala1170=) c.3139_3140delinsGC (p.Ala1047=) n.3508_3509delinsGC | |
13 | g.32337864C>A | CA387776996 | BRCA2 | c.3509C>A (p.Ala1170Asp) c.3140C>A (p.Ala1047Asp) n.3509C>A | dbSNP |
13 | g.32337864C= | CA2082817973 | BRCA2 | c.3509C= (p.Ala1170=) c.3140C= (p.Ala1047=) n.3509C= | |
13 | g.32337864C>G | CA387776997 | BRCA2 | c.3509C>G (p.Ala1170Gly) c.3140C>G (p.Ala1047Gly) n.3509C>G | dbSNP |
13 | g.32337864C>T | CA018216 | BRCA2 | c.3509C>T (p.Ala1170Val) c.3140C>T (p.Ala1047Val) n.3509C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337867dup | CA2695218185 | BRCA2 | c.3512dup (p.Ser1172IlefsTer12) c.3143dup (p.Ser1049IlefsTer12) n.3512dup | ClinVar |
13 | g.32337867del | CA919242463 | BRCA2 | c.3512del (p.Pro1171HisfsTer6) c.3143del (p.Pro1048HisfsTer6) n.3512del | dbSNP |
13 | g.32337865C>A | CA483437588 | BRCA2 | c.3510C>A (p.Ala1170=) c.3141C>A (p.Ala1047=) n.3510C>A | dbSNP |
13 | g.32337865C= | CA2082817977 | BRCA2 | c.3510C= (p.Ala1170=) c.3141C= (p.Ala1047=) n.3510C= | |
13 | g.32337865C>G | CA483437589 | BRCA2 | c.3510C>G (p.Ala1170=) c.3141C>G (p.Ala1047=) n.3510C>G | dbSNP |
13 | g.32337865C>T | CA483437590 | BRCA2 | c.3510C>T (p.Ala1170=) c.3141C>T (p.Ala1047=) n.3510C>T | dbSNP |
13 | g.32337866C>A | CA387777001 | BRCA2 | c.3511C>A (p.Pro1171Thr) c.3142C>A (p.Pro1048Thr) n.3511C>A | ClinVar dbSNP |
13 | g.32337866C>G | CA387777003 | BRCA2 | c.3511C>G (p.Pro1171Ala) c.3142C>G (p.Pro1048Ala) n.3511C>G | dbSNP gnomAD v4 |
13 | g.32337866C>T | CA387777005 | BRCA2 | c.3511C>T (p.Pro1171Ser) c.3142C>T (p.Pro1048Ser) n.3511C>T | ClinVar dbSNP |
13 | g.32337867C>A | CA387777008 | BRCA2 | c.3512C>A (p.Pro1171Gln) c.3143C>A (p.Pro1048Gln) n.3512C>A | |
13 | g.32337867C= | CA2082817983 | BRCA2 | c.3512C= (p.Pro1171=) c.3143C= (p.Pro1048=) n.3512C= | |
13 | g.32337867C>G | CA387777009 | BRCA2 | c.3512C>G (p.Pro1171Arg) c.3143C>G (p.Pro1048Arg) n.3512C>G | |
13 | g.32337867C>T | CA387777012 | BRCA2 | c.3512C>T (p.Pro1171Leu) c.3143C>T (p.Pro1048Leu) n.3512C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32337868A= | CA2082817989 | BRCA2 | c.3513A= (p.Pro1171=) c.3144A= (p.Pro1048=) n.3513A= | |
13 | g.32337868A>C | CA483437591 | BRCA2 | c.3513A>C (p.Pro1171=) c.3144A>C (p.Pro1048=) n.3513A>C | dbSNP |
13 | g.32337868A>G | CA16606673 | BRCA2 | c.3513A>G (p.Pro1171=) c.3144A>G (p.Pro1048=) n.3513A>G | ClinVar dbSNP |
13 | g.32337868A>T | CA483437592 | BRCA2 | c.3513A>T (p.Pro1171=) c.3144A>T (p.Pro1048=) n.3513A>T | dbSNP |
13 | g.32337869del | CA2825002128 | BRCA2 | c.3514del (p.Ser1172ArgfsTer5) c.3145del (p.Ser1049ArgfsTer5) n.3514del | ClinVar |
13 | g.32337869T>A | CA387777014 | BRCA2 | c.3514T>A (p.Ser1172Thr) c.3145T>A (p.Ser1049Thr) n.3514T>A | ClinVar dbSNP |
13 | g.32337869T>C | CA387777016 | BRCA2 | c.3514T>C (p.Ser1172Pro) c.3145T>C (p.Ser1049Pro) n.3514T>C | dbSNP |
13 | g.32337869T>G | CA387777019 | BRCA2 | c.3514T>G (p.Ser1172Ala) c.3145T>G (p.Ser1049Ala) n.3514T>G | ClinVar dbSNP |
13 | g.32337869T= | CA2082818012 | BRCA2 | c.3514T= (p.Ser1172=) c.3145T= (p.Ser1049=) n.3514T= | |
13 | g.32337870C>A | CA16614291 | BRCA2 | c.3515C>A (p.Ser1172Ter) c.3146C>A (p.Ser1049Ter) n.3515C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337870C= | CA2082818036 | BRCA2 | c.3515C= (p.Ser1172=) c.3146C= (p.Ser1049=) n.3515C= | |
13 | g.32337870C>G | CA018223 | BRCA2 | c.3515C>G (p.Ser1172Trp) c.3146C>G (p.Ser1049Trp) n.3515C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337870C>T | CA018231 | BRCA2 | c.3515C>T (p.Ser1172Leu) c.3146C>T (p.Ser1049Leu) n.3515C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337871G>A | CA018238 | BRCA2 | c.3516G>A (p.Ser1172=) c.3147G>A (p.Ser1049=) n.3516G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337871G>C | CA483437593 | BRCA2 | c.3516G>C (p.Ser1172=) c.3147G>C (p.Ser1049=) n.3516G>C | dbSNP |
13 | g.32337871G= | CA2018046949 | BRCA2 | c.3516G= (p.Ser1172=) c.3147G= (p.Ser1049=) n.3516G= | |
13 | g.32337871G>T | CA10579580 | BRCA2 | c.3516G>T (p.Ser1172=) c.3147G>T (p.Ser1049=) n.3516G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337872A= | CA2082818055 | BRCA2 | c.3517A= (p.Ile1173=) c.3148A= (p.Ile1050=) n.3517A= | |
13 | g.32337872A>C | CA387777030 | BRCA2 | c.3517A>C (p.Ile1173Leu) c.3148A>C (p.Ile1050Leu) n.3517A>C | dbSNP |
13 | g.32337872A>G | CA387777031 | BRCA2 | c.3517A>G (p.Ile1173Val) c.3148A>G (p.Ile1050Val) n.3517A>G | ClinVar dbSNP |
13 | g.32337872A>T | CA018244 | BRCA2 | c.3517A>T (p.Ile1173Phe) c.3148A>T (p.Ile1050Phe) n.3517A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32337873T>A | CA387777035 | BRCA2 | c.3518T>A (p.Ile1173Asn) c.3149T>A (p.Ile1050Asn) n.3518T>A | dbSNP |
13 | g.32337873T>C | CA018250 | BRCA2 | c.3518T>C (p.Ile1173Thr) c.3149T>C (p.Ile1050Thr) n.3518T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337873T>G | CA387777038 | BRCA2 | c.3518T>G (p.Ile1173Ser) c.3149T>G (p.Ile1050Ser) n.3518T>G | dbSNP |
13 | g.32337873T= | CA2082818060 | BRCA2 | c.3518T= (p.Ile1173=) c.3149T= (p.Ile1050=) n.3518T= | |
13 | g.32337874del | CA2499222134 | BRCA2 | c.3519del (p.Ile1173MetfsTer4) c.3150del (p.Ile1050MetfsTer4) n.3519del | |
13 | g.32337874T>A | CA483437594 | BRCA2 | c.3519T>A (p.Ile1173=) c.3150T>A (p.Ile1050=) n.3519T>A | dbSNP |
13 | g.32337874T>C | CA483437595 | BRCA2 | c.3519T>C (p.Ile1173=) c.3150T>C (p.Ile1050=) n.3519T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337874T>G | CA387777041 | BRCA2 | c.3519T>G (p.Ile1173Met) c.3150T>G (p.Ile1050Met) n.3519T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337874T= | CA2082818068 | BRCA2 | c.3519T= (p.Ile1173=) c.3150T= (p.Ile1050=) n.3519T= | |
13 | g.32337874_32337878del | CA2695218186 | BRCA2 | c.3519_3523del (p.Gln1175ArgfsTer7) c.3150_3154del (p.Gln1052ArgfsTer7) n.3519_3523del | |
13 | g.32337875G>A | CA387777043 | BRCA2 | c.3520G>A (p.Gly1174Ser) c.3151G>A (p.Gly1051Ser) n.3520G>A | dbSNP |
13 | g.32337875G>C | CA387777046 | BRCA2 | c.3520G>C (p.Gly1174Arg) c.3151G>C (p.Gly1051Arg) n.3520G>C | dbSNP |
13 | g.32337875G>T | CA387777048 | BRCA2 | c.3520G>T (p.Gly1174Cys) c.3151G>T (p.Gly1051Cys) n.3520G>T | dbSNP |
13 | g.32337875_32337876insAATC | CA2499222135 | BRCA2 | c.3520_3521insAATC (p.Gly1174GlufsTer11) c.3151_3152insAATC (p.Gly1051GlufsTer11) n.3520_3521insAATC | |
13 | g.32337876G>A | CA387777051 | BRCA2 | c.3521G>A (p.Gly1174Asp) c.3152G>A (p.Gly1051Asp) n.3521G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337876G>C | CA387777052 | BRCA2 | c.3521G>C (p.Gly1174Ala) c.3152G>C (p.Gly1051Ala) n.3521G>C | dbSNP |
13 | g.32337876G= | CA2082818085 | BRCA2 | c.3521G= (p.Gly1174=) c.3152G= (p.Gly1051=) n.3521G= | |
13 | g.32337876G>T | CA387777054 | BRCA2 | c.3521G>T (p.Gly1174Val) c.3152G>T (p.Gly1051Val) n.3521G>T | ClinVar dbSNP |
13 | g.32337877T>A | CA483437596 | BRCA2 | c.3522T>A (p.Gly1174=) c.3153T>A (p.Gly1051=) n.3522T>A | |
13 | g.32337877T>C | CA483437597 | BRCA2 | c.3522T>C (p.Gly1174=) c.3153T>C (p.Gly1051=) n.3522T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337877T>G | CA483437598 | BRCA2 | c.3522T>G (p.Gly1174=) c.3153T>G (p.Gly1051=) n.3522T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337877T= | CA2082818089 | BRCA2 | c.3522T= (p.Gly1174=) c.3153T= (p.Gly1051=) n.3522T= | |
13 | g.32337878C>A | CA387777056 | BRCA2 | c.3523C>A (p.Gln1175Lys) c.3154C>A (p.Gln1052Lys) n.3523C>A | ClinVar dbSNP |
13 | g.32337878C= | CA2082818098 | BRCA2 | c.3523C= (p.Gln1175=) c.3154C= (p.Gln1052=) n.3523C= | |
13 | g.32337878C>G | CA387777063 | BRCA2 | c.3523C>G (p.Gln1175Glu) c.3154C>G (p.Gln1052Glu) n.3523C>G | ClinVar dbSNP |
13 | g.32337878C>T | CA10589208 | BRCA2 | c.3523C>T (p.Gln1175Ter) c.3154C>T (p.Gln1052Ter) n.3523C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337879A>C | CA387777064 | BRCA2 | c.3524A>C (p.Gln1175Pro) c.3155A>C (p.Gln1052Pro) n.3524A>C | |
13 | g.32337879A>G | CA387777066 | BRCA2 | c.3524A>G (p.Gln1175Arg) c.3155A>G (p.Gln1052Arg) n.3524A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337879A>T | CA387777068 | BRCA2 | c.3524A>T (p.Gln1175Leu) c.3155A>T (p.Gln1052Leu) n.3524A>T | dbSNP |
13 | g.32337880G>A | CA10579581 | BRCA2 | c.3525G>A (p.Gln1175=) c.3156G>A (p.Gln1052=) n.3525G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337880G>C | CA387777071 | BRCA2 | c.3525G>C (p.Gln1175His) c.3156G>C (p.Gln1052His) n.3525G>C | dbSNP |
13 | g.32337880G= | CA2082818105 | BRCA2 | c.3525G= (p.Gln1175=) c.3156G= (p.Gln1052=) n.3525G= | |
13 | g.32337880G>T | CA387777074 | BRCA2 | c.3525G>T (p.Gln1175His) c.3156G>T (p.Gln1052His) n.3525G>T | |
13 | g.32337881G>A | CA018256 | BRCA2 | c.3526G>A (p.Val1176Ile) c.3157G>A (p.Val1053Ile) n.3526G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32337881G>C | CA387777078 | BRCA2 | c.3526G>C (p.Val1176Leu) c.3157G>C (p.Val1053Leu) n.3526G>C | dbSNP |
13 | g.32337881G= | CA2082818123 | BRCA2 | c.3526G= (p.Val1176=) c.3157G= (p.Val1053=) n.3526G= | |
13 | g.32337881G>T | CA387777079 | BRCA2 | c.3526G>T (p.Val1176Leu) c.3157G>T (p.Val1053Leu) n.3526G>T | dbSNP |
13 | g.32337882T>A | CA387777082 | BRCA2 | c.3527T>A (p.Val1176Glu) c.3158T>A (p.Val1053Glu) n.3527T>A | dbSNP |
13 | g.32337882T>C | CA387777088 | BRCA2 | c.3527T>C (p.Val1176Ala) c.3158T>C (p.Val1053Ala) n.3527T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337882T>G | CA387777089 | BRCA2 | c.3527T>G (p.Val1176Gly) c.3158T>G (p.Val1053Gly) n.3527T>G | dbSNP |
13 | g.32337882T= | CA2082818132 | BRCA2 | c.3527T= (p.Val1176=) c.3158T= (p.Val1053=) n.3527T= | |
13 | g.32337882_32337886delinsTAGAC | CA2082818130 | BRCA2 | c.3527_3531delinsTAGAC (p.Val1176=) c.3158_3162delinsTAGAC (p.Val1053=) n.3527_3531delinsTAGAC | |
13 | g.32337883A>C | CA483437599 | BRCA2 | c.3528A>C (p.Val1176=) c.3159A>C (p.Val1053=) n.3528A>C | |
13 | g.32337883A>G | CA483437600 | BRCA2 | c.3528A>G (p.Val1176=) c.3159A>G (p.Val1053=) n.3528A>G | |
13 | g.32337883A>T | CA483437601 | BRCA2 | c.3528A>T (p.Val1176=) c.3159A>T (p.Val1053=) n.3528A>T | dbSNP |
13 | g.32337885_32337888del | CA10589209 | BRCA2 | c.3530_3533del (p.Asp1177AlafsTer19) c.3161_3164del (p.Asp1054AlafsTer19) n.3530_3533del | ClinVar dbSNP |
13 | g.32337884G>A | CA16613951 | BRCA2 | c.3529G>A (p.Asp1177Asn) c.3160G>A (p.Asp1054Asn) n.3529G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32337884G>C | CA387777097 | BRCA2 | c.3529G>C (p.Asp1177His) c.3160G>C (p.Asp1054His) n.3529G>C | dbSNP |
13 | g.32337884G= | CA2082818140 | BRCA2 | c.3529G= (p.Asp1177=) c.3160G= (p.Asp1054=) n.3529G= | |
13 | g.32337884G>T | CA387777095 | BRCA2 | c.3529G>T (p.Asp1177Tyr) c.3160G>T (p.Asp1054Tyr) n.3529G>T | dbSNP |
13 | g.32337884_32337886delinsGAC | CA2082818139 | BRCA2 | c.3529_3531delinsGAC (p.Asp1177=) c.3160_3162delinsGAC (p.Asp1054=) n.3529_3531delinsGAC | |
13 | g.32337885A= | CA2082818161 | BRCA2 | c.3530A= (p.Asp1177=) c.3161A= (p.Asp1054=) n.3530A= | |
13 | g.32337885A>C | CA6940702 | BRCA2 | c.3530A>C (p.Asp1177Ala) c.3161A>C (p.Asp1054Ala) n.3530A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337885A>G | CA387777101 | BRCA2 | c.3530A>G (p.Asp1177Gly) c.3161A>G (p.Asp1054Gly) n.3530A>G | |
13 | g.32337885A>T | CA387777104 | BRCA2 | c.3530A>T (p.Asp1177Val) c.3161A>T (p.Asp1054Val) n.3530A>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337886_32337887del | CA913188522 | BRCA2 | c.3531_3532del (p.Asp1177GlufsTer6) c.3162_3163del (p.Asp1054GlufsTer6) n.3531_3532del | ClinVar dbSNP |
13 | g.32337885_32337889delinsACAGC | CA2082818157 | BRCA2 | c.3530_3534delinsACAGC (p.Asp1177=) c.3161_3165delinsACAGC (p.Asp1054=) n.3530_3534delinsACAGC | |
13 | g.32337886C>A | CA387777107 | BRCA2 | c.3531C>A (p.Asp1177Glu) c.3162C>A (p.Asp1054Glu) n.3531C>A | dbSNP |
13 | g.32337886C= | CA2082818172 | BRCA2 | c.3531C= (p.Asp1177=) c.3162C= (p.Asp1054=) n.3531C= | |
13 | g.32337886C>G | CA387777109 | BRCA2 | c.3531C>G (p.Asp1177Glu) c.3162C>G (p.Asp1054Glu) n.3531C>G | dbSNP |
13 | g.32337886C>T | CA16606679 | BRCA2 | c.3531C>T (p.Asp1177=) c.3162C>T (p.Asp1054=) n.3531C>T | ClinVar dbSNP |
13 | g.32337886_32337889del | CA018270 | BRCA2 | c.3531_3534del (p.Asp1177GlufsTer19) c.3162_3165del (p.Asp1054GlufsTer19) n.3531_3534del | ClinVar dbSNP |
13 | g.32337887A= | CA2082818184 | BRCA2 | c.3532A= (p.Ser1178=) c.3163A= (p.Ser1055=) n.3532A= | |
13 | g.32337887A>C | CA387777113 | BRCA2 | c.3532A>C (p.Ser1178Arg) c.3163A>C (p.Ser1055Arg) n.3532A>C | |
13 | g.32337887A>G | CA018276 | BRCA2 | c.3532A>G (p.Ser1178Gly) c.3163A>G (p.Ser1055Gly) n.3532A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337887A>T | CA387777117 | BRCA2 | c.3532A>T (p.Ser1178Cys) c.3163A>T (p.Ser1055Cys) n.3532A>T | dbSNP |
13 | g.32337888G>A | CA387777119 | BRCA2 | c.3533G>A (p.Ser1178Asn) c.3164G>A (p.Ser1055Asn) n.3533G>A | dbSNP |
13 | g.32337888G>C | CA387777120 | BRCA2 | c.3533G>C (p.Ser1178Thr) c.3164G>C (p.Ser1055Thr) n.3533G>C | dbSNP |
13 | g.32337888G>T | CA387777123 | BRCA2 | c.3533G>T (p.Ser1178Ile) c.3164G>T (p.Ser1055Ile) n.3533G>T | |
13 | g.32337889C>A | CA387777125 | BRCA2 | c.3534C>A (p.Ser1178Arg) c.3165C>A (p.Ser1055Arg) n.3534C>A | dbSNP |
13 | g.32337889C= | CA2082818193 | BRCA2 | c.3534C= (p.Ser1178=) c.3165C= (p.Ser1055=) n.3534C= | |
13 | g.32337889C>G | CA387777126 | BRCA2 | c.3534C>G (p.Ser1178Arg) c.3165C>G (p.Ser1055Arg) n.3534C>G | dbSNP |
13 | g.32337889C>T | CA483437602 | BRCA2 | c.3534C>T (p.Ser1178=) c.3165C>T (p.Ser1055=) n.3534C>T | ClinVar dbSNP |
13 | g.32337889_32337893delinsCAGCA | CA2082818197 | BRCA2 | c.3534_3538delinsCAGCA (p.Ser1178=) c.3165_3169delinsCAGCA (p.Ser1055=) n.3534_3538delinsCAGCA | |
13 | g.32337890A>C | CA387777133 | BRCA2 | c.3535A>C (p.Ser1179Arg) c.3166A>C (p.Ser1056Arg) n.3535A>C | |
13 | g.32337890A>G | CA387777129 | BRCA2 | c.3535A>G (p.Ser1179Gly) c.3166A>G (p.Ser1056Gly) n.3535A>G | |
13 | g.32337890A>T | CA387777131 | BRCA2 | c.3535A>T (p.Ser1179Cys) c.3166A>T (p.Ser1056Cys) n.3535A>T | |
13 | g.32337895_32337898del | CA915948453 | BRCA2 | c.3540_3543del (p.Lys1180AsnfsTer16) c.3171_3174del (p.Lys1057AsnfsTer16) n.3540_3543del | ClinVar dbSNP |
13 | g.32337891G>A | CA018282 | BRCA2 | c.3536G>A (p.Ser1179Asn) c.3167G>A (p.Ser1056Asn) n.3536G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337891G>C | CA387777137 | BRCA2 | c.3536G>C (p.Ser1179Thr) c.3167G>C (p.Ser1056Thr) n.3536G>C | dbSNP |
13 | g.32337891G= | CA2082818213 | BRCA2 | c.3536G= (p.Ser1179=) c.3167G= (p.Ser1056=) n.3536G= | |
13 | g.32337891G>T | CA387777138 | BRCA2 | c.3536G>T (p.Ser1179Ile) c.3167G>T (p.Ser1056Ile) n.3536G>T | |
13 | g.32337892C>A | CA387777141 | BRCA2 | c.3537C>A (p.Ser1179Arg) c.3168C>A (p.Ser1056Arg) n.3537C>A | |
13 | g.32337892C>G | CA387777142 | BRCA2 | c.3537C>G (p.Ser1179Arg) c.3168C>G (p.Ser1056Arg) n.3537C>G | |
13 | g.32337892C>T | CA483437603 | BRCA2 | c.3537C>T (p.Ser1179=) c.3168C>T (p.Ser1056=) n.3537C>T | |
13 | g.32337893A>C | CA387777145 | BRCA2 | c.3538A>C (p.Lys1180Gln) c.3169A>C (p.Lys1057Gln) n.3538A>C | |
13 | g.32337893A>G | CA387777148 | BRCA2 | c.3538A>G (p.Lys1180Glu) c.3169A>G (p.Lys1057Glu) n.3538A>G | ClinVar dbSNP |
13 | g.32337893A>T | CA387777150 | BRCA2 | c.3538A>T (p.Lys1180Ter) c.3169A>T (p.Lys1057Ter) n.3538A>T | ClinVar dbSNP |
13 | g.32337894A= | CA2082818218 | BRCA2 | c.3539A= (p.Lys1180=) c.3170A= (p.Lys1057=) n.3539A= | |
13 | g.32337894A>C | CA387777152 | BRCA2 | c.3539A>C (p.Lys1180Thr) c.3170A>C (p.Lys1057Thr) n.3539A>C | |
13 | g.32337894A>G | CA018286 | BRCA2 | c.3539A>G (p.Lys1180Arg) c.3170A>G (p.Lys1057Arg) n.3539A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32337894A>T | CA387777154 | BRCA2 | c.3539A>T (p.Lys1180Met) c.3170A>T (p.Lys1057Met) n.3539A>T | dbSNP |
13 | g.32337895G>A | CA483437604 | BRCA2 | c.3540G>A (p.Lys1180=) c.3171G>A (p.Lys1057=) n.3540G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337895G>C | CA350624 | BRCA2 | c.3540G>C (p.Lys1180Asn) c.3171G>C (p.Lys1057Asn) n.3540G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337895G= | CA2082818232 | BRCA2 | c.3540G= (p.Lys1180=) c.3171G= (p.Lys1057=) n.3540G= | |
13 | g.32337895G>T | CA387777157 | BRCA2 | c.3540G>T (p.Lys1180Asn) c.3171G>T (p.Lys1057Asn) n.3540G>T | ClinVar dbSNP |
13 | g.32337895_32337896delinsGC | CA2082818230 | BRCA2 | c.3540_3541delinsGC (p.Lys1180=) c.3171_3172delinsGC (p.Lys1057=) n.3540_3541delinsGC | |
13 | g.32337896del | CA919242465 | BRCA2 | c.3541del (p.Gln1181AsnfsTer16) c.3172del (p.Gln1058AsnfsTer16) n.3541del | dbSNP |
13 | g.32337896C>A | CA387777159 | BRCA2 | c.3541C>A (p.Gln1181Lys) c.3172C>A (p.Gln1058Lys) n.3541C>A | dbSNP |
13 | g.32337896C= | CA2082818245 | BRCA2 | c.3541C= (p.Gln1181=) c.3172C= (p.Gln1058=) n.3541C= | |
13 | g.32337896C>G | CA387777162 | BRCA2 | c.3541C>G (p.Gln1181Glu) c.3172C>G (p.Gln1058Glu) n.3541C>G | dbSNP |
13 | g.32337896C>T | CA247505295 | BRCA2 | c.3541C>T (p.Gln1181Ter) c.3172C>T (p.Gln1058Ter) n.3541C>T | dbSNP |
13 | g.32337897A>C | CA387777164 | BRCA2 | c.3542A>C (p.Gln1181Pro) c.3173A>C (p.Gln1058Pro) n.3542A>C | |
13 | g.32337897A>G | CA387777167 | BRCA2 | c.3542A>G (p.Gln1181Arg) c.3173A>G (p.Gln1058Arg) n.3542A>G | dbSNP |
13 | g.32337897A>T | CA387777168 | BRCA2 | c.3542A>T (p.Gln1181Leu) c.3173A>T (p.Gln1058Leu) n.3542A>T | |
13 | g.32337898A= | CA2082818268 | BRCA2 | c.3543A= (p.Gln1181=) c.3174A= (p.Gln1058=) n.3543A= | |
13 | g.32337898A>C | CA387777170 | BRCA2 | c.3543A>C (p.Gln1181His) c.3174A>C (p.Gln1058His) n.3543A>C | ClinVar dbSNP |
13 | g.32337898A>G | CA483437605 | BRCA2 | c.3543A>G (p.Gln1181=) c.3174A>G (p.Gln1058=) n.3543A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337898A>T | CA387777172 | BRCA2 | c.3543A>T (p.Gln1181His) c.3174A>T (p.Gln1058His) n.3543A>T | dbSNP |
13 | g.32337898_32337900delinsATT | CA2082818258 | BRCA2 | c.3543_3545delinsATT (p.Gln1181=) c.3174_3176delinsATT (p.Gln1058=) n.3543_3545delinsATT | |
13 | g.32337899T>A | CA387777179 | BRCA2 | c.3544T>A (p.Phe1182Ile) c.3175T>A (p.Phe1059Ile) n.3544T>A | dbSNP |
13 | g.32337899T>C | CA387777182 | BRCA2 | c.3544T>C (p.Phe1182Leu) c.3175T>C (p.Phe1059Leu) n.3544T>C | dbSNP |
13 | g.32337899T>G | CA387777184 | BRCA2 | c.3544T>G (p.Phe1182Val) c.3175T>G (p.Phe1059Val) n.3544T>G | dbSNP |
13 | g.32337901del | CA10589210 | BRCA2 | c.3546del (p.Phe1182LeufsTer15) c.3177del (p.Phe1059LeufsTer15) n.3546del | ClinVar dbSNP |
13 | g.32337900_32337901del | CA018299 | BRCA2 | c.3545_3546del (p.Phe1182Ter) c.3176_3177del (p.Phe1059Ter) n.3545_3546del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337900T>A | CA387777191 | BRCA2 | c.3545T>A (p.Phe1182Tyr) c.3176T>A (p.Phe1059Tyr) n.3545T>A | |
13 | g.32337900T>C | CA387777190 | BRCA2 | c.3545T>C (p.Phe1182Ser) c.3176T>C (p.Phe1059Ser) n.3545T>C | |
13 | g.32337900T>G | CA387777188 | BRCA2 | c.3545T>G (p.Phe1182Cys) c.3176T>G (p.Phe1059Cys) n.3545T>G | |
13 | g.32337901T>A | CA387777195 | BRCA2 | c.3546T>A (p.Phe1182Leu) c.3177T>A (p.Phe1059Leu) n.3546T>A | dbSNP |
13 | g.32337901T>C | CA483437606 | BRCA2 | c.3546T>C (p.Phe1182=) c.3177T>C (p.Phe1059=) n.3546T>C | dbSNP |
13 | g.32337901T>G | CA387777200 | BRCA2 | c.3546T>G (p.Phe1182Leu) c.3177T>G (p.Phe1059Leu) n.3546T>G | |
13 | g.32337902G>A | CA387777203 | BRCA2 | c.3547G>A (p.Glu1183Lys) c.3178G>A (p.Glu1060Lys) n.3547G>A | dbSNP |
13 | g.32337902G>C | CA387777204 | BRCA2 | c.3547G>C (p.Glu1183Gln) c.3178G>C (p.Glu1060Gln) n.3547G>C | ClinVar dbSNP |
13 | g.32337902G= | CA2082818288 | BRCA2 | c.3547G= (p.Glu1183=) c.3178G= (p.Glu1060=) n.3547G= | |
13 | g.32337902G>T | CA387777205 | BRCA2 | c.3547G>T (p.Glu1183Ter) c.3178G>T (p.Glu1060Ter) n.3547G>T | |
13 | g.32337903A>C | CA387777208 | BRCA2 | c.3548A>C (p.Glu1183Ala) c.3179A>C (p.Glu1060Ala) n.3548A>C | |
13 | g.32337903A>G | CA387777211 | BRCA2 | c.3548A>G (p.Glu1183Gly) c.3179A>G (p.Glu1060Gly) n.3548A>G | dbSNP |
13 | g.32337903A>T | CA387777212 | BRCA2 | c.3548A>T (p.Glu1183Val) c.3179A>T (p.Glu1060Val) n.3548A>T | dbSNP |
13 | g.32337904A>C | CA387777215 | BRCA2 | c.3549A>C (p.Glu1183Asp) c.3180A>C (p.Glu1060Asp) n.3549A>C | |
13 | g.32337904A>G | CA483437607 | BRCA2 | c.3549A>G (p.Glu1183=) c.3180A>G (p.Glu1060=) n.3549A>G | dbSNP |
13 | g.32337904A>T | CA387777217 | BRCA2 | c.3549A>T (p.Glu1183Asp) c.3180A>T (p.Glu1060Asp) n.3549A>T | dbSNP |
13 | g.32337905G>A | CA387777220 | BRCA2 | c.3550G>A (p.Gly1184Ser) c.3181G>A (p.Gly1061Ser) n.3550G>A | ClinVar dbSNP COSMIC COSMIC |
13 | g.32337905G>C | CA387777225 | BRCA2 | c.3550G>C (p.Gly1184Arg) c.3181G>C (p.Gly1061Arg) n.3550G>C | dbSNP |
13 | g.32337905G= | CA2082818289 | BRCA2 | c.3550G= (p.Gly1184=) c.3181G= (p.Gly1061=) n.3550G= | |
13 | g.32337905G>T | CA387777221 | BRCA2 | c.3550G>T (p.Gly1184Cys) c.3181G>T (p.Gly1061Cys) n.3550G>T | ClinVar dbSNP |
13 | g.32337906G>A | CA387777227 | BRCA2 | c.3551G>A (p.Gly1184Asp) c.3182G>A (p.Gly1061Asp) n.3551G>A | ClinVar dbSNP |
13 | g.32337906G>C | CA018307 | BRCA2 | c.3551G>C (p.Gly1184Ala) c.3182G>C (p.Gly1061Ala) n.3551G>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337906G= | CA2082818297 | BRCA2 | c.3551G= (p.Gly1184=) c.3182G= (p.Gly1061=) n.3551G= | |
13 | g.32337906G>T | CA387777229 | BRCA2 | c.3551G>T (p.Gly1184Val) c.3182G>T (p.Gly1061Val) n.3551G>T | |
13 | g.32337907T>A | CA483437608 | BRCA2 | c.3552T>A (p.Gly1184=) c.3183T>A (p.Gly1061=) n.3552T>A | dbSNP |
13 | g.32337907T>C | CA483437609 | BRCA2 | c.3552T>C (p.Gly1184=) c.3183T>C (p.Gly1061=) n.3552T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32337907T>G | CA483437610 | BRCA2 | c.3552T>G (p.Gly1184=) c.3183T>G (p.Gly1061=) n.3552T>G | |
13 | g.32337907T= | CA2082818305 | BRCA2 | c.3552T= (p.Gly1184=) c.3183T= (p.Gly1061=) n.3552T= | |
13 | g.32337907_32337909delinsTAC | CA2082818304 | BRCA2 | c.3552_3554delinsTAC (p.Gly1184=) c.3183_3185delinsTAC (p.Gly1061=) n.3552_3554delinsTAC | |
13 | g.32337908A= | CA2082818317 | BRCA2 | c.3553A= (p.Thr1185=) c.3184A= (p.Thr1062=) n.3553A= | |
13 | g.32337908A>C | CA387777234 | BRCA2 | c.3553A>C (p.Thr1185Pro) c.3184A>C (p.Thr1062Pro) n.3553A>C | |
13 | g.32337908A>G | CA018312 | BRCA2 | c.3553A>G (p.Thr1185Ala) c.3184A>G (p.Thr1062Ala) n.3553A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337908A>T | CA387777237 | BRCA2 | c.3553A>T (p.Thr1185Ser) c.3184A>T (p.Thr1062Ser) n.3553A>T | |
13 | g.32337908dup | CA2573149323 | BRCA2 | c.3553dup (p.Thr1185AsnfsTer3) c.3184dup (p.Thr1062AsnfsTer3) n.3553dup | ClinVar dbSNP |
13 | g.32337909_32337910del | CA018315 | BRCA2 | c.3554_3555del (p.Thr1185SerfsTer2) c.3185_3186del (p.Thr1062SerfsTer2) n.3554_3555del | ClinVar dbSNP |
13 | g.32337908_32337918delinsACAGTTGAAAT | CA2082818319 | BRCA2 | c.3553_3563delinsACAGTTGAAAT (p.Thr1185=) c.3184_3194delinsACAGTTGAAAT (p.Thr1062=) n.3553_3563delinsACAGTTGAAAT | |
13 | g.32337909C>A | CA387777242 | BRCA2 | c.3554C>A (p.Thr1185Lys) c.3185C>A (p.Thr1062Lys) n.3554C>A | |
13 | g.32337909C= | CA2082818335 | BRCA2 | c.3554C= (p.Thr1185=) c.3185C= (p.Thr1062=) n.3554C= | |
13 | g.32337909C>G | CA387777246 | BRCA2 | c.3554C>G (p.Thr1185Arg) c.3185C>G (p.Thr1062Arg) n.3554C>G | |
13 | g.32337909C>T | CA387777248 | BRCA2 | c.3554C>T (p.Thr1185Ile) c.3185C>T (p.Thr1062Ile) n.3554C>T | ClinVar dbSNP |
13 | g.32337909_32337918del | CA018321 | BRCA2 | c.3554_3563del (p.Thr1185IlefsTer9) c.3185_3194del (p.Thr1062IlefsTer9) n.3554_3563del | ClinVar dbSNP |
13 | g.32337909_32337919delinsCAGTTGAAATT | CA2082818338 | BRCA2 | c.3554_3564delinsCAGTTGAAATT (p.Thr1185=) c.3185_3195delinsCAGTTGAAATT (p.Thr1062=) n.3554_3564delinsCAGTTGAAATT | |
13 | g.32337910A= | CA2082818355 | BRCA2 | c.3555A= (p.Thr1185=) c.3186A= (p.Thr1062=) n.3555A= | |
13 | g.32337910A>C | CA483437611 | BRCA2 | c.3555A>C (p.Thr1185=) c.3186A>C (p.Thr1062=) n.3555A>C | |
13 | g.32337910A>G | CA10579582 | BRCA2 | c.3555A>G (p.Thr1185=) c.3186A>G (p.Thr1062=) n.3555A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337910A>T | CA483437612 | BRCA2 | c.3555A>T (p.Thr1185=) c.3186A>T (p.Thr1062=) n.3555A>T | ClinVar dbSNP |
13 | g.32337910_32337911delinsAG | CA2082818353 | BRCA2 | c.3555_3556delinsAG (p.Thr1185=) c.3186_3187delinsAG (p.Thr1062=) n.3555_3556delinsAG | |
13 | g.32337911_32337920del | CA018331 | BRCA2 | c.3556_3565del (p.Val1186AsnfsTer8) c.3187_3196del (p.Val1063AsnfsTer8) n.3556_3565del | ClinVar dbSNP |
13 | g.32337911G>A | CA018342 | BRCA2 | c.3556G>A (p.Val1186Ile) c.3187G>A (p.Val1063Ile) n.3556G>A | ClinVar dbSNP |
13 | g.32337911G>C | CA387777255 | BRCA2 | c.3556G>C (p.Val1186Leu) c.3187G>C (p.Val1063Leu) n.3556G>C | dbSNP |
13 | g.32337911G= | CA2082818372 | BRCA2 | c.3556G= (p.Val1186=) c.3187G= (p.Val1063=) n.3556G= | |
13 | g.32337911G>T | CA387777256 | BRCA2 | c.3556G>T (p.Val1186Phe) c.3187G>T (p.Val1063Phe) n.3556G>T | |
13 | g.32337911delinsTTACAA | CA915948454 | BRCA2 | c.3556delinsTTACAA (p.Val1186LeufsTer13) c.3187delinsTTACAA (p.Val1063LeufsTer13) n.3556delinsTTACAA | ClinVar dbSNP |
13 | g.32337912T>A | CA387777259 | BRCA2 | c.3557T>A (p.Val1186Asp) c.3188T>A (p.Val1063Asp) n.3557T>A | ClinVar dbSNP |
13 | g.32337912T>C | CA6940703 | BRCA2 | c.3557T>C (p.Val1186Ala) c.3188T>C (p.Val1063Ala) n.3557T>C | dbSNP ExAC gnomAD v2 |
13 | g.32337912T>G | CA387777263 | BRCA2 | c.3557T>G (p.Val1186Gly) c.3188T>G (p.Val1063Gly) n.3557T>G | |
13 | g.32337912T= | CA2082818381 | BRCA2 | c.3557T= (p.Val1186=) c.3188T= (p.Val1063=) n.3557T= | |
13 | g.32337913T>A | CA483437613 | BRCA2 | c.3558T>A (p.Val1186=) c.3189T>A (p.Val1063=) n.3558T>A | dbSNP |
13 | g.32337913T>C | CA483437615 | BRCA2 | c.3558T>C (p.Val1186=) c.3189T>C (p.Val1063=) n.3558T>C | ClinVar dbSNP |
13 | g.32337913T>G | CA483437614 | BRCA2 | c.3558T>G (p.Val1186=) c.3189T>G (p.Val1063=) n.3558T>G | dbSNP |
13 | g.32337913T= | CA2082818390 | BRCA2 | c.3558T= (p.Val1186=) c.3189T= (p.Val1063=) n.3558T= | |
13 | g.32337914G>A | CA387777270 | BRCA2 | c.3559G>A (p.Glu1187Lys) c.3190G>A (p.Glu1064Lys) n.3559G>A | dbSNP |
13 | g.32337914G>C | CA387777268 | BRCA2 | c.3559G>C (p.Glu1187Gln) c.3190G>C (p.Glu1064Gln) n.3559G>C | dbSNP |
13 | g.32337914G= | CA2082818399 | BRCA2 | c.3559G= (p.Glu1187=) c.3190G= (p.Glu1064=) n.3559G= | |
13 | g.32337914G>T | CA387777265 | BRCA2 | c.3559G>T (p.Glu1187Ter) c.3190G>T (p.Glu1064Ter) n.3559G>T | dbSNP |
13 | g.32337915A>C | CA387777273 | BRCA2 | c.3560A>C (p.Glu1187Ala) c.3191A>C (p.Glu1064Ala) n.3560A>C | ClinVar |
13 | g.32337915A>G | CA387777275 | BRCA2 | c.3560A>G (p.Glu1187Gly) c.3191A>G (p.Glu1064Gly) n.3560A>G | dbSNP |
13 | g.32337915A>T | CA387777277 | BRCA2 | c.3560A>T (p.Glu1187Val) c.3191A>T (p.Glu1064Val) n.3560A>T | dbSNP |
13 | g.32337916A>C | CA387777279 | BRCA2 | c.3561A>C (p.Glu1187Asp) c.3192A>C (p.Glu1064Asp) n.3561A>C | |
13 | g.32337916A>G | CA483437616 | BRCA2 | c.3561A>G (p.Glu1187=) c.3192A>G (p.Glu1064=) n.3561A>G | dbSNP |
13 | g.32337916A>T | CA387777282 | BRCA2 | c.3561A>T (p.Glu1187Asp) c.3192A>T (p.Glu1064Asp) n.3561A>T | |
13 | g.32337917A= | CA2082818406 | BRCA2 | c.3562A= (p.Ile1188=) c.3193A= (p.Ile1065=) n.3562A= | |
13 | g.32337917A>C | CA387777284 | BRCA2 | c.3562A>C (p.Ile1188Leu) c.3193A>C (p.Ile1065Leu) n.3562A>C | |
13 | g.32337917A>G | CA018345 | BRCA2 | c.3562A>G (p.Ile1188Val) c.3193A>G (p.Ile1065Val) n.3562A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337917A>T | CA387777290 | BRCA2 | c.3562A>T (p.Ile1188Phe) c.3193A>T (p.Ile1065Phe) n.3562A>T | |
13 | g.32337918T>A | CA387777292 | BRCA2 | c.3563T>A (p.Ile1188Asn) c.3194T>A (p.Ile1065Asn) n.3563T>A | dbSNP |
13 | g.32337918T>C | CA387777295 | BRCA2 | c.3563T>C (p.Ile1188Thr) c.3194T>C (p.Ile1065Thr) n.3563T>C | ClinVar dbSNP |
13 | g.32337918T>G | CA387777296 | BRCA2 | c.3563T>G (p.Ile1188Ser) c.3194T>G (p.Ile1065Ser) n.3563T>G | |
13 | g.32337918_32337922delinsTTAAA | CA2082818415 | BRCA2 | c.3563_3567delinsTTAAA (p.Ile1188=) c.3194_3198delinsTTAAA (p.Ile1065=) n.3563_3567delinsTTAAA | |
13 | g.32337919T>A | CA483437618 | BRCA2 | c.3564T>A (p.Ile1188=) c.3195T>A (p.Ile1065=) n.3564T>A | |
13 | g.32337919T>C | CA483437617 | BRCA2 | c.3564T>C (p.Ile1188=) c.3195T>C (p.Ile1065=) n.3564T>C | ClinVar |
13 | g.32337919T>G | CA387777301 | BRCA2 | c.3564T>G (p.Ile1188Met) c.3195T>G (p.Ile1065Met) n.3564T>G | |
13 | g.32337919_32337922del | CA10589211 | BRCA2 | c.3564_3567del (p.Lys1189GlyfsTer7) c.3195_3198del (p.Lys1066GlyfsTer7) n.3564_3567del | ClinVar dbSNP |
13 | g.32337920A>C | CA387777303 | BRCA2 | c.3565A>C (p.Lys1189Gln) c.3196A>C (p.Lys1066Gln) n.3565A>C | |
13 | g.32337920A>G | CA387777306 | BRCA2 | c.3565A>G (p.Lys1189Glu) c.3196A>G (p.Lys1066Glu) n.3565A>G | dbSNP |
13 | g.32337920A>T | CA387777307 | BRCA2 | c.3565A>T (p.Lys1189Ter) c.3196A>T (p.Lys1066Ter) n.3565A>T | dbSNP |
13 | g.32337922dup | CA2695199695 | BRCA2 | c.3567dup (p.Arg1190ThrfsTer10) c.3198dup (p.Arg1067ThrfsTer10) n.3567dup | ClinVar |
13 | g.32337921A= | CA2082818429 | BRCA2 | c.3566A= (p.Lys1189=) c.3197A= (p.Lys1066=) n.3566A= | |
13 | g.32337921A>C | CA387777309 | BRCA2 | c.3566A>C (p.Lys1189Thr) c.3197A>C (p.Lys1066Thr) n.3566A>C | ClinVar dbSNP |
13 | g.32337921A>G | CA387777312 | BRCA2 | c.3566A>G (p.Lys1189Arg) c.3197A>G (p.Lys1066Arg) n.3566A>G | dbSNP |
13 | g.32337921A>T | CA387777314 | BRCA2 | c.3566A>T (p.Lys1189Ile) c.3197A>T (p.Lys1066Ile) n.3566A>T | ClinVar dbSNP |
13 | g.32337922A>C | CA387777319 | BRCA2 | c.3567A>C (p.Lys1189Asn) c.3198A>C (p.Lys1066Asn) n.3567A>C | |
13 | g.32337922A>G | CA483437619 | BRCA2 | c.3567A>G (p.Lys1189=) c.3198A>G (p.Lys1066=) n.3567A>G | ClinVar dbSNP |
13 | g.32337922A>T | CA387777317 | BRCA2 | c.3567A>T (p.Lys1189Asn) c.3198A>T (p.Lys1066Asn) n.3567A>T | dbSNP |
13 | g.32337923del | CA2580087093 | BRCA2 | c.3568del (p.Arg1190GlyfsTer7) c.3199del (p.Arg1067GlyfsTer7) n.3568del | ClinVar |
13 | g.32337923C>A | CA483437620 | BRCA2 | c.3568C>A (p.Arg1190=) c.3199C>A (p.Arg1067=) n.3568C>A | dbSNP |
13 | g.32337923C= | CA2082818435 | BRCA2 | c.3568C= (p.Arg1190=) c.3199C= (p.Arg1067=) n.3568C= | |
13 | g.32337923C>G | CA387777321 | BRCA2 | c.3568C>G (p.Arg1190Gly) c.3199C>G (p.Arg1067Gly) n.3568C>G | dbSNP |
13 | g.32337923C>T | CA018352 | BRCA2 | c.3568C>T (p.Arg1190Trp) c.3199C>T (p.Arg1067Trp) n.3568C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32337923_32337924delinsCG | CA2082818441 | BRCA2 | c.3568_3569delinsCG (p.Arg1190=) c.3199_3200delinsCG (p.Arg1067=) n.3568_3569delinsCG | |
13 | g.32337924G>A | CA018360 | BRCA2 | c.3569G>A (p.Arg1190Gln) c.3200G>A (p.Arg1067Gln) n.3569G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337924G>C | CA387777326 | BRCA2 | c.3569G>C (p.Arg1190Pro) c.3200G>C (p.Arg1067Pro) n.3569G>C | dbSNP |
13 | g.32337924G= | CA2082818453 | BRCA2 | c.3569G= (p.Arg1190=) c.3200G= (p.Arg1067=) n.3569G= | |
13 | g.32337924G>T | CA387777328 | BRCA2 | c.3569G>T (p.Arg1190Leu) c.3200G>T (p.Arg1067Leu) n.3569G>T | ClinVar dbSNP |
13 | g.32337925dup | CA2695218187 | BRCA2 | c.3570dup (p.Lys1191GlufsTer9) c.3201dup (p.Lys1068GlufsTer9) n.3570dup | |
13 | g.32337925del | CA018365 | BRCA2 | c.3570del (p.Lys1191SerfsTer6) c.3201del (p.Lys1068SerfsTer6) n.3570del | ClinVar dbSNP |
13 | g.32337925G>A | CA483437621 | BRCA2 | c.3570G>A (p.Arg1190=) c.3201G>A (p.Arg1067=) n.3570G>A | ClinVar dbSNP |
13 | g.32337925G>C | CA483437622 | BRCA2 | c.3570G>C (p.Arg1190=) c.3201G>C (p.Arg1067=) n.3570G>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337925G= | CA2082818466 | BRCA2 | c.3570G= (p.Arg1190=) c.3201G= (p.Arg1067=) n.3570G= | |
13 | g.32337925G>T | CA483437623 | BRCA2 | c.3570G>T (p.Arg1190=) c.3201G>T (p.Arg1067=) n.3570G>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
13 | g.32337926A>C | CA387777331 | BRCA2 | c.3571A>C (p.Lys1191Gln) c.3202A>C (p.Lys1068Gln) n.3571A>C | |
13 | g.32337926A>G | CA387777334 | BRCA2 | c.3571A>G (p.Lys1191Glu) c.3202A>G (p.Lys1068Glu) n.3571A>G | |
13 | g.32337926A>T | CA387777333 | BRCA2 | c.3571A>T (p.Lys1191Ter) c.3202A>T (p.Lys1068Ter) n.3571A>T | |
13 | g.32337927del | CA2499222136 | BRCA2 | c.3572del (p.Lys1191SerfsTer6) c.3203del (p.Lys1068SerfsTer6) n.3572del | ClinVar |
13 | g.32337927A= | CA2082818476 | BRCA2 | c.3572A= (p.Lys1191=) c.3203A= (p.Lys1068=) n.3572A= | |
13 | g.32337927A>C | CA387777337 | BRCA2 | c.3572A>C (p.Lys1191Thr) c.3203A>C (p.Lys1068Thr) n.3572A>C | |
13 | g.32337927A>G | CA387777339 | BRCA2 | c.3572A>G (p.Lys1191Arg) c.3203A>G (p.Lys1068Arg) n.3572A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337927A>T | CA387777341 | BRCA2 | c.3572A>T (p.Lys1191Met) c.3203A>T (p.Lys1068Met) n.3572A>T | dbSNP |
13 | g.32337928G>A | CA483437624 | BRCA2 | c.3573G>A (p.Lys1191=) c.3204G>A (p.Lys1068=) n.3573G>A | ClinVar dbSNP |
13 | g.32337928G>C | CA387777344 | BRCA2 | c.3573G>C (p.Lys1191Asn) c.3204G>C (p.Lys1068Asn) n.3573G>C | dbSNP COSMIC COSMIC |
13 | g.32337928G= | CA2082818488 | BRCA2 | c.3573G= (p.Lys1191=) c.3204G= (p.Lys1068=) n.3573G= | |
13 | g.32337928G>T | CA387777346 | BRCA2 | c.3573G>T (p.Lys1191Asn) c.3204G>T (p.Lys1068Asn) n.3573G>T | |
13 | g.32337929T>A | CA387777349 | BRCA2 | c.3574T>A (p.Phe1192Ile) c.3205T>A (p.Phe1069Ile) n.3574T>A | dbSNP |
13 | g.32337929T>C | CA387777351 | BRCA2 | c.3574T>C (p.Phe1192Leu) c.3205T>C (p.Phe1069Leu) n.3574T>C | dbSNP |
13 | g.32337929T>G | CA387777353 | BRCA2 | c.3574T>G (p.Phe1192Val) c.3205T>G (p.Phe1069Val) n.3574T>G | dbSNP |
13 | g.32337930T>A | CA387777356 | BRCA2 | c.3575T>A (p.Phe1192Tyr) c.3206T>A (p.Phe1069Tyr) n.3575T>A | dbSNP |
13 | g.32337930T>C | CA387777358 | BRCA2 | c.3575T>C (p.Phe1192Ser) c.3206T>C (p.Phe1069Ser) n.3575T>C | |
13 | g.32337930T>G | CA018368 | BRCA2 | c.3575T>G (p.Phe1192Cys) c.3206T>G (p.Phe1069Cys) n.3575T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32337930T= | CA2082818503 | BRCA2 | c.3575T= (p.Phe1192=) c.3206T= (p.Phe1069=) n.3575T= | |
13 | g.32337931T>A | CA387777361 | BRCA2 | c.3576T>A (p.Phe1192Leu) c.3207T>A (p.Phe1069Leu) n.3576T>A | ClinVar dbSNP |
13 | g.32337931T>C | CA483437626 | BRCA2 | c.3576T>C (p.Phe1192=) c.3207T>C (p.Phe1069=) n.3576T>C | |
13 | g.32337931T>G | CA387777363 | BRCA2 | c.3576T>G (p.Phe1192Leu) c.3207T>G (p.Phe1069Leu) n.3576T>G | |
13 | g.32337932G>A | CA387777366 | BRCA2 | c.3577G>A (p.Ala1193Thr) c.3208G>A (p.Ala1070Thr) n.3577G>A | ClinVar dbSNP |
13 | g.32337932G>C | CA387777368 | BRCA2 | c.3577G>C (p.Ala1193Pro) c.3208G>C (p.Ala1070Pro) n.3577G>C | dbSNP gnomAD v4 |
13 | g.32337932G= | CA2082818515 | BRCA2 | c.3577G= (p.Ala1193=) c.3208G= (p.Ala1070=) n.3577G= | |
13 | g.32337932G>T | CA387777371 | BRCA2 | c.3577G>T (p.Ala1193Ser) c.3208G>T (p.Ala1070Ser) n.3577G>T | ClinVar dbSNP |
13 | g.32337933C>A | CA387777373 | BRCA2 | c.3578C>A (p.Ala1193Asp) c.3209C>A (p.Ala1070Asp) n.3578C>A | |
13 | g.32337933C= | CA2082818524 | BRCA2 | c.3578C= (p.Ala1193=) c.3209C= (p.Ala1070=) n.3578C= | |
13 | g.32337933C>G | CA387777375 | BRCA2 | c.3578C>G (p.Ala1193Gly) c.3209C>G (p.Ala1070Gly) n.3578C>G | dbSNP |
13 | g.32337933C>T | CA018374 | BRCA2 | c.3578C>T (p.Ala1193Val) c.3209C>T (p.Ala1070Val) n.3578C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337934T>A | CA483437630 | BRCA2 | c.3579T>A (p.Ala1193=) c.3210T>A (p.Ala1070=) n.3579T>A | |
13 | g.32337934T>C | CA483437628 | BRCA2 | c.3579T>C (p.Ala1193=) c.3210T>C (p.Ala1070=) n.3579T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337934T>G | CA483437629 | BRCA2 | c.3579T>G (p.Ala1193=) c.3210T>G (p.Ala1070=) n.3579T>G | |
13 | g.32337934T= | CA2082818533 | BRCA2 | c.3579T= (p.Ala1193=) c.3210T= (p.Ala1070=) n.3579T= | |
13 | g.32337935G>A | CA387777383 | BRCA2 | c.3580G>A (p.Gly1194Ser) c.3211G>A (p.Gly1071Ser) n.3580G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337935G>C | CA387777381 | BRCA2 | c.3580G>C (p.Gly1194Arg) c.3211G>C (p.Gly1071Arg) n.3580G>C | dbSNP |
13 | g.32337935G>T | CA387777379 | BRCA2 | c.3580G>T (p.Gly1194Cys) c.3211G>T (p.Gly1071Cys) n.3580G>T | dbSNP |
13 | g.32337936G>A | CA018377 | BRCA2 | c.3581G>A (p.Gly1194Asp) c.3212G>A (p.Gly1071Asp) n.3581G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337936G>C | CA387777386 | BRCA2 | c.3581G>C (p.Gly1194Ala) c.3212G>C (p.Gly1071Ala) n.3581G>C | dbSNP |
13 | g.32337936G= | CA2082818540 | BRCA2 | c.3581G= (p.Gly1194=) c.3212G= (p.Gly1071=) n.3581G= | |
13 | g.32337936G>T | CA387777389 | BRCA2 | c.3581G>T (p.Gly1194Val) c.3212G>T (p.Gly1071Val) n.3581G>T | dbSNP |
13 | g.32337937C>A | CA483437633 | BRCA2 | c.3582C>A (p.Gly1194=) c.3213C>A (p.Gly1071=) n.3582C>A | dbSNP |
13 | g.32337937C= | CA2082818557 | BRCA2 | c.3582C= (p.Gly1194=) c.3213C= (p.Gly1071=) n.3582C= | |
13 | g.32337937C>G | CA6940704 | BRCA2 | c.3582C>G (p.Gly1194=) c.3213C>G (p.Gly1071=) n.3582C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337937C>T | CA483437634 | BRCA2 | c.3582C>T (p.Gly1194=) c.3213C>T (p.Gly1071=) n.3582C>T | ClinVar dbSNP |
13 | g.32337938C>A | CA10583091 | BRCA2 | c.3583C>A (p.Leu1195Met) c.3214C>A (p.Leu1072Met) n.3583C>A | ClinVar dbSNP |
13 | g.32337938C= | CA2082818562 | BRCA2 | c.3583C= (p.Leu1195=) c.3214C= (p.Leu1072=) n.3583C= | |
13 | g.32337938C>G | CA387777397 | BRCA2 | c.3583C>G (p.Leu1195Val) c.3214C>G (p.Leu1072Val) n.3583C>G | ClinVar dbSNP |
13 | g.32337938C>T | CA483437635 | BRCA2 | c.3583C>T (p.Leu1195=) c.3214C>T (p.Leu1072=) n.3583C>T | dbSNP |
13 | g.32337939del | CA2580087099 | BRCA2 | c.3584del (p.Leu1195ArgfsTer2) c.3215del (p.Leu1072ArgfsTer2) n.3584del | ClinVar |
13 | g.32337939T>A | CA387777399 | BRCA2 | c.3584T>A (p.Leu1195Gln) c.3215T>A (p.Leu1072Gln) n.3584T>A | dbSNP |
13 | g.32337939T>C | CA387777404 | BRCA2 | c.3584T>C (p.Leu1195Pro) c.3215T>C (p.Leu1072Pro) n.3584T>C | gnomAD v4 |
13 | g.32337939T>G | CA387777402 | BRCA2 | c.3584T>G (p.Leu1195Arg) c.3215T>G (p.Leu1072Arg) n.3584T>G | dbSNP |
13 | g.32337940G>A | CA483437636 | BRCA2 | c.3585G>A (p.Leu1195=) c.3216G>A (p.Leu1072=) n.3585G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337940G>C | CA483437637 | BRCA2 | c.3585G>C (p.Leu1195=) c.3216G>C (p.Leu1072=) n.3585G>C | dbSNP gnomAD v4 |
13 | g.32337940G>T | CA483437638 | BRCA2 | c.3585G>T (p.Leu1195=) c.3216G>T (p.Leu1072=) n.3585G>T | ClinVar |
13 | g.32337941T>A | CA387777406 | BRCA2 | c.3586T>A (p.Leu1196Met) c.3217T>A (p.Leu1073Met) n.3586T>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337941T>C | CA483437640 | BRCA2 | c.3586T>C (p.Leu1196=) c.3217T>C (p.Leu1073=) n.3586T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337941T>G | CA387777408 | BRCA2 | c.3586T>G (p.Leu1196Val) c.3217T>G (p.Leu1073Val) n.3586T>G | dbSNP |
13 | g.32337941T= | CA2082818573 | BRCA2 | c.3586T= (p.Leu1196=) c.3217T= (p.Leu1073=) n.3586T= | |
13 | g.32337942T>A | CA387777410 | BRCA2 | c.3587T>A (p.Leu1196Ter) c.3218T>A (p.Leu1073Ter) n.3587T>A | dbSNP |
13 | g.32337942T>C | CA387777412 | BRCA2 | c.3587T>C (p.Leu1196Ser) c.3218T>C (p.Leu1073Ser) n.3587T>C | |
13 | g.32337942T>G | CA387777415 | BRCA2 | c.3587T>G (p.Leu1196Trp) c.3218T>G (p.Leu1073Trp) n.3587T>G | |
13 | g.32337943G>A | CA6940705 | BRCA2 | c.3588G>A (p.Leu1196=) c.3219G>A (p.Leu1073=) n.3588G>A | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.32337943G>C | CA387777417 | BRCA2 | c.3588G>C (p.Leu1196Phe) c.3219G>C (p.Leu1073Phe) n.3588G>C | |
13 | g.32337943G= | CA2082818588 | BRCA2 | c.3588G= (p.Leu1196=) c.3219G= (p.Leu1073=) n.3588G= | |
13 | g.32337943G>T | CA387777419 | BRCA2 | c.3588G>T (p.Leu1196Phe) c.3219G>T (p.Leu1073Phe) n.3588G>T | |
13 | g.32337943_32337944delinsGA | CA2082818581 | BRCA2 | c.3588_3589delinsGA (p.Leu1196=) c.3219_3220delinsGA (p.Leu1073=) n.3588_3589delinsGA | |
13 | g.32337944A= | CA2082818601 | BRCA2 | c.3589A= (p.Lys1197=) c.3220A= (p.Lys1074=) n.3589A= | |
13 | g.32337944A>C | CA387777422 | BRCA2 | c.3589A>C (p.Lys1197Gln) c.3220A>C (p.Lys1074Gln) n.3589A>C | dbSNP |
13 | g.32337944A>G | CA387777425 | BRCA2 | c.3589A>G (p.Lys1197Glu) c.3220A>G (p.Lys1074Glu) n.3589A>G | ClinVar dbSNP |
13 | g.32337944A>T | CA387777426 | BRCA2 | c.3589A>T (p.Lys1197Ter) c.3220A>T (p.Lys1074Ter) n.3589A>T | dbSNP |
13 | g.32337948dup | CA280072 | BRCA2 | c.3593dup (p.Asn1198LysfsTer2) c.3224dup (p.Asn1075LysfsTer2) n.3593dup | ClinVar dbSNP |
13 | g.32337948del | CA018383 | BRCA2 | c.3593del (p.Asn1198MetfsTer11) c.3224del (p.Asn1075MetfsTer11) n.3593del | ClinVar dbSNP |
13 | g.32337945A>C | CA387777430 | BRCA2 | c.3590A>C (p.Lys1197Thr) c.3221A>C (p.Lys1074Thr) n.3590A>C | |
13 | g.32337945A>G | CA387777432 | BRCA2 | c.3590A>G (p.Lys1197Arg) c.3221A>G (p.Lys1074Arg) n.3590A>G | gnomAD v4 |
13 | g.32337945A>T | CA387777433 | BRCA2 | c.3590A>T (p.Lys1197Ile) c.3221A>T (p.Lys1074Ile) n.3590A>T | dbSNP |
13 | g.32337946A>C | CA387777436 | BRCA2 | c.3591A>C (p.Lys1197Asn) c.3222A>C (p.Lys1074Asn) n.3591A>C | gnomAD v4 |
13 | g.32337946A>G | CA483437645 | BRCA2 | c.3591A>G (p.Lys1197=) c.3222A>G (p.Lys1074=) n.3591A>G | |
13 | g.32337946A>T | CA387777439 | BRCA2 | c.3591A>T (p.Lys1197Asn) c.3222A>T (p.Lys1074Asn) n.3591A>T | dbSNP |
13 | g.32337947A>C | CA387777442 | BRCA2 | c.3592A>C (p.Asn1198His) c.3223A>C (p.Asn1075His) n.3592A>C | |
13 | g.32337947A>G | CA387777443 | BRCA2 | c.3592A>G (p.Asn1198Asp) c.3223A>G (p.Asn1075Asp) n.3592A>G | ClinVar dbSNP |
13 | g.32337947A>T | CA387777445 | BRCA2 | c.3592A>T (p.Asn1198Tyr) c.3223A>T (p.Asn1075Tyr) n.3592A>T | |
13 | g.32337948A= | CA2082818607 | BRCA2 | c.3593A= (p.Asn1198=) c.3224A= (p.Asn1075=) n.3593A= | |
13 | g.32337948A>C | CA387777448 | BRCA2 | c.3593A>C (p.Asn1198Thr) c.3224A>C (p.Asn1075Thr) n.3593A>C | ClinVar dbSNP |
13 | g.32337948A>G | CA6940706 | BRCA2 | c.3593A>G (p.Asn1198Ser) c.3224A>G (p.Asn1075Ser) n.3593A>G | ClinVar dbSNP ExAC |
13 | g.32337948A>T | CA387777451 | BRCA2 | c.3593A>T (p.Asn1198Ile) c.3224A>T (p.Asn1075Ile) n.3593A>T | dbSNP |
13 | g.32337948_32337952delinsATGAC | CA2082818614 | BRCA2 | c.3593_3597delinsATGAC (p.Asn1198=) c.3224_3228delinsATGAC (p.Asn1075=) n.3593_3597delinsATGAC |