UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32354860_32355660del | CA2499222270 | BRCA2 | c.7008-1_7435+372del c.6639-1_7066+372del n.7008-1_7435+372del c.6912-1_7339+372del | ClinVar dbSNP |
| 13 | g.32355052G>A | CA247468512 | BRCA2 | c.7199G>A (p.Gly2400Asp) c.6830G>A (p.Gly2277Asp) n.7199G>A c.7103G>A (p.Gly2368Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355052G>C | CA387739856 | BRCA2 | c.7199G>C (p.Gly2400Ala) c.6830G>C (p.Gly2277Ala) n.7199G>C c.7103G>C (p.Gly2368Ala) | dbSNP |
| 13 | g.32355052G= | CA2082809660 | BRCA2 | c.7199G= (p.Gly2400=) c.6830G= (p.Gly2277=) n.7199G= c.7103G= (p.Gly2368=) | |
| 13 | g.32355052G>T | CA387739854 | BRCA2 | c.7199G>T (p.Gly2400Val) c.6830G>T (p.Gly2277Val) n.7199G>T c.7103G>T (p.Gly2368Val) | |
| 13 | g.32355053C>A | CA6941069 | BRCA2 | c.7200C>A (p.Gly2400=) c.6831C>A (p.Gly2277=) n.7200C>A c.7104C>A (p.Gly2368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355053C= | CA2082809662 | BRCA2 | c.7200C= (p.Gly2400=) c.6831C= (p.Gly2277=) n.7200C= c.7104C= (p.Gly2368=) | |
| 13 | g.32355053C>G | CA483439709 | BRCA2 | c.7200C>G (p.Gly2400=) c.6831C>G (p.Gly2277=) n.7200C>G c.7104C>G (p.Gly2368=) | dbSNP |
| 13 | g.32355053C>T | CA483439711 | BRCA2 | c.7200C>T (p.Gly2400=) c.6831C>T (p.Gly2277=) n.7200C>T c.7104C>T (p.Gly2368=) | dbSNP |
| 13 | g.32355054A= | CA2082809670 | BRCA2 | c.7201A= (p.Arg2401=) c.6832A= (p.Arg2278=) n.7201A= c.7105A= (p.Arg2369=) | |
| 13 | g.32355054A>C | CA483439713 | BRCA2 | c.7201A>C (p.Arg2401=) c.6832A>C (p.Arg2278=) n.7201A>C c.7105A>C (p.Arg2369=) | |
| 13 | g.32355054A>G | CA387739871 | BRCA2 | c.7201A>G (p.Arg2401Gly) c.6832A>G (p.Arg2278Gly) n.7201A>G c.7105A>G (p.Arg2369Gly) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355054A>T | CA387739874 | BRCA2 | c.7201A>T (p.Arg2401Ter) c.6832A>T (p.Arg2278Ter) n.7201A>T c.7105A>T (p.Arg2369Ter) | |
| 13 | g.32355054_32355066del | CA2580087404 | BRCA2 | c.7201_7213del (p.Arg2401SerfsTer?) c.6832_6844del (p.Arg2278SerfsTer?) n.7201_7213del c.7105_7117del (p.Arg2369SerfsTer?) | ClinVar |
| 13 | g.32355055G>A | CA387739877 | BRCA2 | c.7202G>A (p.Arg2401Lys) c.6833G>A (p.Arg2278Lys) n.7202G>A c.7106G>A (p.Arg2369Lys) | |
| 13 | g.32355055G>C | CA387739879 | BRCA2 | c.7202G>C (p.Arg2401Thr) c.6833G>C (p.Arg2278Thr) n.7202G>C c.7106G>C (p.Arg2369Thr) | |
| 13 | g.32355055G>T | CA387739885 | BRCA2 | c.7202G>T (p.Arg2401Ile) c.6833G>T (p.Arg2278Ile) n.7202G>T c.7106G>T (p.Arg2369Ile) | |
| 13 | g.32355055_32355059delinsGACCA | CA2082809674 | BRCA2 | c.7202_7206delinsGACCA (p.Arg2401=) c.6833_6837delinsGACCA (p.Arg2278=) n.7202_7206delinsGACCA c.7106_7110delinsGACCA (p.Arg2369=) | |
| 13 | g.32355056A>C | CA387739897 | BRCA2 | c.7203A>C (p.Arg2401Ser) c.6834A>C (p.Arg2278Ser) n.7203A>C c.7107A>C (p.Arg2369Ser) | |
| 13 | g.32355056A>G | CA483439718 | BRCA2 | c.7203A>G (p.Arg2401=) c.6834A>G (p.Arg2278=) n.7203A>G c.7107A>G (p.Arg2369=) | |
| 13 | g.32355056A>T | CA387739902 | BRCA2 | c.7203A>T (p.Arg2401Ser) c.6834A>T (p.Arg2278Ser) n.7203A>T c.7107A>T (p.Arg2369Ser) | |
| 13 | g.32355061_32355064del | CA024961 | BRCA2 | c.7208_7211del (p.Thr2403LysfsTer?) c.6839_6842del (p.Thr2280LysfsTer?) n.7208_7211del c.7112_7115del (p.Thr2371LysfsTer?) | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32355057C>A | CA387739909 | BRCA2 | c.7204C>A (p.Pro2402Thr) c.6835C>A (p.Pro2279Thr) n.7204C>A c.7108C>A (p.Pro2370Thr) | dbSNP |
| 13 | g.32355057C>G | CA387739911 | BRCA2 | c.7204C>G (p.Pro2402Ala) c.6835C>G (p.Pro2279Ala) n.7204C>G c.7108C>G (p.Pro2370Ala) | dbSNP |
| 13 | g.32355057C>T | CA387739917 | BRCA2 | c.7204C>T (p.Pro2402Ser) c.6835C>T (p.Pro2279Ser) n.7204C>T c.7108C>T (p.Pro2370Ser) | dbSNP |
| 13 | g.32355058C>A | CA387739921 | BRCA2 | c.7205C>A (p.Pro2402Gln) c.6836C>A (p.Pro2279Gln) n.7205C>A c.7109C>A (p.Pro2370Gln) | dbSNP |
| 13 | g.32355058C= | CA2082809688 | BRCA2 | c.7205C= (p.Pro2402=) c.6836C= (p.Pro2279=) n.7205C= c.7109C= (p.Pro2370=) | |
| 13 | g.32355058C>G | CA387739943 | BRCA2 | c.7205C>G (p.Pro2402Arg) c.6836C>G (p.Pro2279Arg) n.7205C>G c.7109C>G (p.Pro2370Arg) | ClinVar dbSNP |
| 13 | g.32355058C>T | CA387739924 | BRCA2 | c.7205C>T (p.Pro2402Leu) c.6836C>T (p.Pro2279Leu) n.7205C>T c.7109C>T (p.Pro2370Leu) | ClinVar dbSNP |
| 13 | g.32355059A= | CA2082809698 | BRCA2 | c.7206A= (p.Pro2402=) c.6837A= (p.Pro2279=) n.7206A= c.7110A= (p.Pro2370=) | |
| 13 | g.32355059A>C | CA483439723 | BRCA2 | c.7206A>C (p.Pro2402=) c.6837A>C (p.Pro2279=) n.7206A>C c.7110A>C (p.Pro2370=) | |
| 13 | g.32355059A>G | CA483439724 | BRCA2 | c.7206A>G (p.Pro2402=) c.6837A>G (p.Pro2279=) n.7206A>G c.7110A>G (p.Pro2370=) | ClinVar dbSNP |
| 13 | g.32355059A>T | CA483439725 | BRCA2 | c.7206A>T (p.Pro2402=) c.6837A>T (p.Pro2279=) n.7206A>T c.7110A>T (p.Pro2370=) | dbSNP |
| 13 | g.32355060dup | CA916080532 | BRCA2 | c.7207dup (p.Thr2403AsnfsTer9) c.6838dup (p.Thr2280AsnfsTer9) n.7207dup c.7111dup (p.Thr2371AsnfsTer9) | ClinVar dbSNP |
| 13 | g.32355060A= | CA2082809702 | BRCA2 | c.7207A= (p.Thr2403=) c.6838A= (p.Thr2280=) n.7207A= c.7111A= (p.Thr2371=) | |
| 13 | g.32355060A>C | CA387739945 | BRCA2 | c.7207A>C (p.Thr2403Pro) c.6838A>C (p.Thr2280Pro) n.7207A>C c.7111A>C (p.Thr2371Pro) | |
| 13 | g.32355060A>G | CA024960 | BRCA2 | c.7207A>G (p.Thr2403Ala) c.6838A>G (p.Thr2280Ala) n.7207A>G c.7111A>G (p.Thr2371Ala) | ClinVar dbSNP |
| 13 | g.32355060A>T | CA387739946 | BRCA2 | c.7207A>T (p.Thr2403Ser) c.6838A>T (p.Thr2280Ser) n.7207A>T c.7111A>T (p.Thr2371Ser) | |
| 13 | g.32355061C>A | CA387739947 | BRCA2 | c.7208C>A (p.Thr2403Asn) c.6839C>A (p.Thr2280Asn) n.7208C>A c.7112C>A (p.Thr2371Asn) | ClinVar dbSNP |
| 13 | g.32355061C= | CA2082809715 | BRCA2 | c.7208C= (p.Thr2403=) c.6839C= (p.Thr2280=) n.7208C= c.7112C= (p.Thr2371=) | |
| 13 | g.32355061C>G | CA387739954 | BRCA2 | c.7208C>G (p.Thr2403Ser) c.6839C>G (p.Thr2280Ser) n.7208C>G c.7112C>G (p.Thr2371Ser) | dbSNP |
| 13 | g.32355061C>T | CA10583125 | BRCA2 | c.7208C>T (p.Thr2403Ile) c.6839C>T (p.Thr2280Ile) n.7208C>T c.7112C>T (p.Thr2371Ile) | ClinVar dbSNP gnomAD v2 |
| 13 | g.32355061_32355065delinsCCAAA | CA2082809714 | BRCA2 | c.7208_7212delinsCCAAA (p.Thr2403=) c.6839_6843delinsCCAAA (p.Thr2280=) n.7208_7212delinsCCAAA c.7112_7116delinsCCAAA (p.Thr2371=) | |
| 13 | g.32355062C>A | CA483439729 | BRCA2 | c.7209C>A (p.Thr2403=) c.6840C>A (p.Thr2280=) n.7209C>A c.7113C>A (p.Thr2371=) | ClinVar dbSNP |
| 13 | g.32355062C= | CA2082809732 | BRCA2 | c.7209C= (p.Thr2403=) c.6840C= (p.Thr2280=) n.7209C= c.7113C= (p.Thr2371=) | |
| 13 | g.32355062C>G | CA483439728 | BRCA2 | c.7209C>G (p.Thr2403=) c.6840C>G (p.Thr2280=) n.7209C>G c.7113C>G (p.Thr2371=) | dbSNP |
| 13 | g.32355062C>T | CA483439730 | BRCA2 | c.7209C>T (p.Thr2403=) c.6840C>T (p.Thr2280=) n.7209C>T c.7113C>T (p.Thr2371=) | dbSNP |
| 13 | g.32355062_32355064delinsCAA | CA2082809725 | BRCA2 | c.7209_7211delinsCAA (p.Thr2403=) c.6840_6842delinsCAA (p.Thr2280=) n.7209_7211delinsCAA c.7113_7115delinsCAA (p.Thr2371=) | |
| 13 | g.32355062_32355065delinsGG | CA10579727 | BRCA2 | c.7209_7212delinsGG (p.Lys2404GlyfsTer7) c.6840_6843delinsGG (p.Lys2281GlyfsTer7) n.7209_7212delinsGG c.7113_7116delinsGG (p.Lys2372GlyfsTer7) | ClinVar dbSNP |
| 13 | g.32355062_32355069delinsCAAAGTCT | CA2082809727 | BRCA2 | c.7209_7216delinsCAAAGTCT (p.Thr2403=) c.6840_6847delinsCAAAGTCT (p.Thr2280=) n.7209_7216delinsCAAAGTCT c.7113_7120delinsCAAAGTCT (p.Thr2371=) | |
| 13 | g.32355063A= | CA2082809752 | BRCA2 | c.7210A= (p.Lys2404=) c.6841A= (p.Lys2281=) n.7210A= c.7114A= (p.Lys2372=) | |
| 13 | g.32355063A>C | CA387739981 | BRCA2 | c.7210A>C (p.Lys2404Gln) c.6841A>C (p.Lys2281Gln) n.7210A>C c.7114A>C (p.Lys2372Gln) | |
| 13 | g.32355063A>G | CA387739983 | BRCA2 | c.7210A>G (p.Lys2404Glu) c.6841A>G (p.Lys2281Glu) n.7210A>G c.7114A>G (p.Lys2372Glu) | |
| 13 | g.32355063A>T | CA10589417 | BRCA2 | c.7210A>T (p.Lys2404Ter) c.6841A>T (p.Lys2281Ter) n.7210A>T c.7114A>T (p.Lys2372Ter) | ClinVar dbSNP |
| 13 | g.32355065del | CA10589418 | BRCA2 | c.7212del (p.Val2405SerfsTer?) c.6843del (p.Val2282SerfsTer?) n.7212del c.7116del (p.Val2373SerfsTer?) | ClinVar dbSNP |
| 13 | g.32355064_32355065del | CA024966 | BRCA2 | c.7211_7212del (p.Lys2404SerfsTer7) c.6842_6843del (p.Lys2281SerfsTer7) n.7211_7212del c.7115_7116del (p.Lys2372SerfsTer7) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32355063_32355069delinsTG | CA024964 | BRCA2 | c.7210_7216delinsTG (p.Lys2404CysfsTer6) c.6841_6847delinsTG (p.Lys2281CysfsTer6) n.7210_7216delinsTG c.7114_7120delinsTG (p.Lys2372CysfsTer6) | ClinVar dbSNP |
| 13 | g.32355063_32355069delinsTGTAG | CA10588568 | BRCA2 | c.7210_7216delinsTGTAG (p.Lys2404CysfsTer7) c.6841_6847delinsTGTAG (p.Lys2281CysfsTer7) n.7210_7216delinsTGTAG c.7114_7120delinsTGTAG (p.Lys2372CysfsTer7) | ClinVar dbSNP |
| 13 | g.32355064A= | CA2082809765 | BRCA2 | c.7211A= (p.Lys2404=) c.6842A= (p.Lys2281=) n.7211A= c.7115A= (p.Lys2372=) | |
| 13 | g.32355064A>C | CA387739992 | BRCA2 | c.7211A>C (p.Lys2404Thr) c.6842A>C (p.Lys2281Thr) n.7211A>C c.7115A>C (p.Lys2372Thr) | ClinVar dbSNP |
| 13 | g.32355064A>G | CA387739986 | BRCA2 | c.7211A>G (p.Lys2404Arg) c.6842A>G (p.Lys2281Arg) n.7211A>G c.7115A>G (p.Lys2372Arg) | ClinVar |
| 13 | g.32355064A>T | CA387739991 | BRCA2 | c.7211A>T (p.Lys2404Ile) c.6842A>T (p.Lys2281Ile) n.7211A>T c.7115A>T (p.Lys2372Ile) | |
| 13 | g.32355064_32355065delinsGGTT | CA2580614672 | BRCA2 | c.7211_7212delinsGGTT (p.Lys2404ArgfsTer?) c.6842_6843delinsGGTT (p.Lys2281ArgfsTer?) n.7211_7212delinsGGTT c.7115_7116delinsGGTT (p.Lys2372ArgfsTer?) | ClinVar |
| 13 | g.32355065_32355077del | CA891842186 | BRCA2 | c.7212_7224del (p.Lys2404AsnfsTer?) c.6843_6855del (p.Lys2281AsnfsTer?) n.7212_7224del c.7116_7128del (p.Lys2372AsnfsTer?) | |
| 13 | g.32355065A>C | CA387739995 | BRCA2 | c.7212A>C (p.Lys2404Asn) c.6843A>C (p.Lys2281Asn) n.7212A>C c.7116A>C (p.Lys2372Asn) | |
| 13 | g.32355065A>G | CA483439738 | BRCA2 | c.7212A>G (p.Lys2404=) c.6843A>G (p.Lys2281=) n.7212A>G c.7116A>G (p.Lys2372=) | |
| 13 | g.32355065A>T | CA387739998 | BRCA2 | c.7212A>T (p.Lys2404Asn) c.6843A>T (p.Lys2281Asn) n.7212A>T c.7116A>T (p.Lys2372Asn) | dbSNP |
| 13 | g.32355066G>A | CA387740003 | BRCA2 | c.7213G>A (p.Val2405Ile) c.6844G>A (p.Val2282Ile) n.7213G>A c.7117G>A (p.Val2373Ile) | ClinVar dbSNP |
| 13 | g.32355066G>C | CA387740008 | BRCA2 | c.7213G>C (p.Val2405Leu) c.6844G>C (p.Val2282Leu) n.7213G>C c.7117G>C (p.Val2373Leu) | ClinVar dbSNP |
| 13 | g.32355066G= | CA2082809771 | BRCA2 | c.7213G= (p.Val2405=) c.6844G= (p.Val2282=) n.7213G= c.7117G= (p.Val2373=) | |
| 13 | g.32355066G>T | CA387740012 | BRCA2 | c.7213G>T (p.Val2405Phe) c.6844G>T (p.Val2282Phe) n.7213G>T c.7117G>T (p.Val2373Phe) | |
| 13 | g.32355066_32355070delinsGTCTT | CA2082809772 | BRCA2 | c.7213_7217delinsGTCTT (p.Val2405=) c.6844_6848delinsGTCTT (p.Val2282=) n.7213_7217delinsGTCTT c.7117_7121delinsGTCTT (p.Val2373=) | |
| 13 | g.32355067T>A | CA387740018 | BRCA2 | c.7214T>A (p.Val2405Asp) c.6845T>A (p.Val2282Asp) n.7214T>A c.7118T>A (p.Val2373Asp) | dbSNP gnomAD v2 |
| 13 | g.32355067T>C | CA387740021 | BRCA2 | c.7214T>C (p.Val2405Ala) c.6845T>C (p.Val2282Ala) n.7214T>C c.7118T>C (p.Val2373Ala) | |
| 13 | g.32355067T>G | CA387740031 | BRCA2 | c.7214T>G (p.Val2405Gly) c.6845T>G (p.Val2282Gly) n.7214T>G c.7118T>G (p.Val2373Gly) | ClinVar dbSNP |
| 13 | g.32355067T= | CA2082809779 | BRCA2 | c.7214T= (p.Val2405=) c.6845T= (p.Val2282=) n.7214T= c.7118T= (p.Val2373=) | |
| 13 | g.32355068_32355071del | CA658656407 | BRCA2 | c.7215_7218del (p.Val2407HisfsTer?) c.6846_6849del (p.Val2284HisfsTer?) n.7215_7218del c.7119_7122del (p.Val2375HisfsTer?) | ClinVar dbSNP |
| 13 | g.32355068C>A | CA16606699 | BRCA2 | c.7215C>A (p.Val2405=) c.6846C>A (p.Val2282=) n.7215C>A c.7119C>A (p.Val2373=) | ClinVar dbSNP |
| 13 | g.32355068C= | CA2082809787 | BRCA2 | c.7215C= (p.Val2405=) c.6846C= (p.Val2282=) n.7215C= c.7119C= (p.Val2373=) | |
| 13 | g.32355068C>G | CA483439742 | BRCA2 | c.7215C>G (p.Val2405=) c.6846C>G (p.Val2282=) n.7215C>G c.7119C>G (p.Val2373=) | dbSNP |
| 13 | g.32355068C>T | CA483439743 | BRCA2 | c.7215C>T (p.Val2405=) c.6846C>T (p.Val2282=) n.7215C>T c.7119C>T (p.Val2373=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355068_32355070delinsCTT | CA2082809785 | BRCA2 | c.7215_7217delinsCTT (p.Val2405=) c.6846_6848delinsCTT (p.Val2282=) n.7215_7217delinsCTT c.7119_7121delinsCTT (p.Val2373=) | |
| 13 | g.32355068_32355069insAGATG | CA2509409308 | BRCA2 | c.7215_7216insAGATG (p.Phe2406ArgfsTer?) c.6846_6847insAGATG (p.Phe2283ArgfsTer?) n.7215_7216insAGATG c.7119_7120insAGATG (p.Phe2374ArgfsTer?) | |
| 13 | g.32355069T>A | CA387740035 | BRCA2 | c.7216T>A (p.Phe2406Ile) c.6847T>A (p.Phe2283Ile) n.7216T>A c.7120T>A (p.Phe2374Ile) | dbSNP |
| 13 | g.32355069T>C | CA387740037 | BRCA2 | c.7216T>C (p.Phe2406Leu) c.6847T>C (p.Phe2283Leu) n.7216T>C c.7120T>C (p.Phe2374Leu) | ClinVar dbSNP |
| 13 | g.32355069T>G | CA387740038 | BRCA2 | c.7216T>G (p.Phe2406Val) c.6847T>G (p.Phe2283Val) n.7216T>G c.7120T>G (p.Phe2374Val) | dbSNP |
| 13 | g.32355071dup | CA10579728 | BRCA2 | c.7218dup (p.Val2407CysfsTer5) c.6849dup (p.Val2284CysfsTer5) n.7218dup c.7122dup (p.Val2375CysfsTer5) | ClinVar dbSNP |
| 13 | g.32355070_32355071del | CA891844182 | BRCA2 | c.7217_7218del (p.Phe2406CysfsTer5) c.6848_6849del (p.Phe2283CysfsTer5) n.7217_7218del c.7121_7122del (p.Phe2374CysfsTer5) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355070T>A | CA387740046 | BRCA2 | c.7217T>A (p.Phe2406Tyr) c.6848T>A (p.Phe2283Tyr) n.7217T>A c.7121T>A (p.Phe2374Tyr) | dbSNP |
| 13 | g.32355070T>C | CA6941070 | BRCA2 | c.7217T>C (p.Phe2406Ser) c.6848T>C (p.Phe2283Ser) n.7217T>C c.7121T>C (p.Phe2374Ser) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 13 | g.32355070T>G | CA387740040 | BRCA2 | c.7217T>G (p.Phe2406Cys) c.6848T>G (p.Phe2283Cys) n.7217T>G c.7121T>G (p.Phe2374Cys) | |
| 13 | g.32355070T= | CA2082809803 | BRCA2 | c.7217T= (p.Phe2406=) c.6848T= (p.Phe2283=) n.7217T= c.7121T= (p.Phe2374=) | |
| 13 | g.32355071T>A | CA387740057 | BRCA2 | c.7218T>A (p.Phe2406Leu) c.6849T>A (p.Phe2283Leu) n.7218T>A c.7122T>A (p.Phe2374Leu) | dbSNP |
| 13 | g.32355071T>C | CA483439746 | BRCA2 | c.7218T>C (p.Phe2406=) c.6849T>C (p.Phe2283=) n.7218T>C c.7122T>C (p.Phe2374=) | ClinVar dbSNP |
| 13 | g.32355071T>G | CA024968 | BRCA2 | c.7218T>G (p.Phe2406Leu) c.6849T>G (p.Phe2283Leu) n.7218T>G c.7122T>G (p.Phe2374Leu) | ClinVar dbSNP |
| 13 | g.32355071T= | CA2082809808 | BRCA2 | c.7218T= (p.Phe2406=) c.6849T= (p.Phe2283=) n.7218T= c.7122T= (p.Phe2374=) | |
| 13 | g.32355072_32355073del | CA2573149370 | BRCA2 | c.7219_7220del (p.Val2407SerfsTer4) c.6850_6851del (p.Val2284SerfsTer4) n.7219_7220del c.7123_7124del (p.Val2375SerfsTer4) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355071_32355074delinsTGTT | CA2082809813 | BRCA2 | c.7218_7221delinsTGTT (p.Phe2406=) c.6849_6852delinsTGTT (p.Phe2283=) n.7218_7221delinsTGTT c.7122_7125delinsTGTT (p.Phe2374=) | |
| 13 | g.32355072G>A | CA387740069 | BRCA2 | c.7219G>A (p.Val2407Ile) c.6850G>A (p.Val2284Ile) n.7219G>A c.7123G>A (p.Val2375Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355072G>C | CA387740073 | BRCA2 | c.7219G>C (p.Val2407Leu) c.6850G>C (p.Val2284Leu) n.7219G>C c.7123G>C (p.Val2375Leu) | ClinVar dbSNP |
| 13 | g.32355072G= | CA2082809831 | BRCA2 | c.7219G= (p.Val2407=) c.6850G= (p.Val2284=) n.7219G= c.7123G= (p.Val2375=) | |
| 13 | g.32355072G>T | CA387740080 | BRCA2 | c.7219G>T (p.Val2407Phe) c.6850G>T (p.Val2284Phe) n.7219G>T c.7123G>T (p.Val2375Phe) | |
| 13 | g.32355072_32355074delinsA | CA913188629 | BRCA2 | c.7219_7221delinsA (p.Val2407ThrfsTer4) c.6850_6852delinsA (p.Val2284ThrfsTer4) n.7219_7221delinsA c.7123_7125delinsA (p.Val2375ThrfsTer4) | ClinVar dbSNP |
| 13 | g.32355073T>A | CA387740084 | BRCA2 | c.7220T>A (p.Val2407Asp) c.6851T>A (p.Val2284Asp) n.7220T>A c.7124T>A (p.Val2375Asp) | dbSNP |
| 13 | g.32355073T>C | CA387740089 | BRCA2 | c.7220T>C (p.Val2407Ala) c.6851T>C (p.Val2284Ala) n.7220T>C c.7124T>C (p.Val2375Ala) | dbSNP |
| 13 | g.32355073T>G | CA387740094 | BRCA2 | c.7220T>G (p.Val2407Gly) c.6851T>G (p.Val2284Gly) n.7220T>G c.7124T>G (p.Val2375Gly) | dbSNP |
| 13 | g.32355073_32355074delinsAA | CA1139663169 | BRCA2 | c.7220_7221delinsAA (p.Val2407Glu) c.6851_6852delinsAA (p.Val2284Glu) n.7220_7221delinsAA c.7124_7125delinsAA (p.Val2375Glu) | ClinVar |
| 13 | g.32355074del | CA2499222275 | BRCA2 | c.7221del (p.Pro2408HisfsTer?) c.6852del (p.Pro2285HisfsTer?) n.7221del c.7125del (p.Pro2376HisfsTer?) | |
| 13 | g.32355073_32355075delinsAA | CA2499222274 | BRCA2 | c.7220_7222delinsAA (p.Val2407GlufsTer?) c.6851_6853delinsAA (p.Val2284GlufsTer?) n.7220_7222delinsAA c.7124_7126delinsAA (p.Val2375GlufsTer?) | |
| 13 | g.32355073_32355076dup | CA10589419 | BRCA2 | c.7220_7223dup (p.Pro2409SerfsTer4) c.6851_6854dup (p.Pro2286SerfsTer4) n.7220_7223dup c.7124_7127dup (p.Pro2377SerfsTer4) | ClinVar dbSNP |
| 13 | g.32355074T>A | CA483439750 | BRCA2 | c.7221T>A (p.Val2407=) c.6852T>A (p.Val2284=) n.7221T>A c.7125T>A (p.Val2375=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355074T>C | CA483439752 | BRCA2 | c.7221T>C (p.Val2407=) c.6852T>C (p.Val2284=) n.7221T>C c.7125T>C (p.Val2375=) | |
| 13 | g.32355074T>G | CA483439751 | BRCA2 | c.7221T>G (p.Val2407=) c.6852T>G (p.Val2284=) n.7221T>G c.7125T>G (p.Val2375=) | |
| 13 | g.32355075C>A | CA387740116 | BRCA2 | c.7222C>A (p.Pro2408Thr) c.6853C>A (p.Pro2285Thr) n.7222C>A c.7126C>A (p.Pro2376Thr) | ClinVar dbSNP |
| 13 | g.32355075C= | CA2082809854 | BRCA2 | c.7222C= (p.Pro2408=) c.6853C= (p.Pro2285=) n.7222C= c.7126C= (p.Pro2376=) | |
| 13 | g.32355075C>G | CA387740133 | BRCA2 | c.7222C>G (p.Pro2408Ala) c.6853C>G (p.Pro2285Ala) n.7222C>G c.7126C>G (p.Pro2376Ala) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355075C>T | CA024971 | BRCA2 | c.7222C>T (p.Pro2408Ser) c.6853C>T (p.Pro2285Ser) n.7222C>T c.7126C>T (p.Pro2376Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355076del | CA2499222276 | BRCA2 | c.7223del (p.Pro2408HisfsTer?) c.6854del (p.Pro2285HisfsTer?) n.7223del c.7127del (p.Pro2376HisfsTer?) | |
| 13 | g.32355076C>A | CA387740165 | BRCA2 | c.7223C>A (p.Pro2408Gln) c.6854C>A (p.Pro2285Gln) n.7223C>A c.7127C>A (p.Pro2376Gln) | dbSNP |
| 13 | g.32355076C= | CA2082809871 | BRCA2 | c.7223C= (p.Pro2408=) c.6854C= (p.Pro2285=) n.7223C= c.7127C= (p.Pro2376=) | |
| 13 | g.32355076C>G | CA387740172 | BRCA2 | c.7223C>G (p.Pro2408Arg) c.6854C>G (p.Pro2285Arg) n.7223C>G c.7127C>G (p.Pro2376Arg) | |
| 13 | g.32355076C>T | CA387740151 | BRCA2 | c.7223C>T (p.Pro2408Leu) c.6854C>T (p.Pro2285Leu) n.7223C>T c.7127C>T (p.Pro2376Leu) | dbSNP gnomAD v2 |
| 13 | g.32355076_32355077delinsCA | CA2082809874 | BRCA2 | c.7223_7224delinsCA (p.Pro2408=) c.6854_6855delinsCA (p.Pro2285=) n.7223_7224delinsCA c.7127_7128delinsCA (p.Pro2376=) | |
| 13 | g.32355076_32355080delinsCACCT | CA2082809869 | BRCA2 | c.7223_7227delinsCACCT (p.Pro2408=) c.6854_6858delinsCACCT (p.Pro2285=) n.7223_7227delinsCACCT c.7127_7131delinsCACCT (p.Pro2376=) | |
| 13 | g.32355077del | CA915946864 | BRCA2 | c.7224del (p.Pro2409LeufsTer?) c.6855del (p.Pro2286LeufsTer?) n.7224del c.7128del (p.Pro2377LeufsTer?) | ClinVar dbSNP |
| 13 | g.32355077A= | CA2082809894 | BRCA2 | c.7224A= (p.Pro2408=) c.6855A= (p.Pro2285=) n.7224A= c.7128A= (p.Pro2376=) | |
| 13 | g.32355077A>C | CA483439754 | BRCA2 | c.7224A>C (p.Pro2408=) c.6855A>C (p.Pro2285=) n.7224A>C c.7128A>C (p.Pro2376=) | dbSNP |
| 13 | g.32355077A>G | CA024974 | BRCA2 | c.7224A>G (p.Pro2408=) c.6855A>G (p.Pro2285=) n.7224A>G c.7128A>G (p.Pro2376=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355077A>T | CA483439755 | BRCA2 | c.7224A>T (p.Pro2408=) c.6855A>T (p.Pro2285=) n.7224A>T c.7128A>T (p.Pro2376=) | dbSNP |
| 13 | g.32355077_32355078delinsAC | CA2082809896 | BRCA2 | c.7224_7225delinsAC (p.Pro2408=) c.6855_6856delinsAC (p.Pro2285=) n.7224_7225delinsAC c.7128_7129delinsAC (p.Pro2376=) | |
| 13 | g.32355077_32355080del | CA024972 | BRCA2 | c.7224_7227del (p.Pro2409LeufsTer?) c.6855_6858del (p.Pro2286LeufsTer?) n.7224_7227del c.7128_7131del (p.Pro2377LeufsTer?) | ClinVar dbSNP |
| 13 | g.32355078C>A | CA387740198 | BRCA2 | c.7225C>A (p.Pro2409Thr) c.6856C>A (p.Pro2286Thr) n.7225C>A c.7129C>A (p.Pro2377Thr) | dbSNP gnomAD v4 |
| 13 | g.32355078C>G | CA387740205 | BRCA2 | c.7225C>G (p.Pro2409Ala) c.6856C>G (p.Pro2286Ala) n.7225C>G c.7129C>G (p.Pro2377Ala) | dbSNP |
| 13 | g.32355078C>T | CA387740206 | BRCA2 | c.7225C>T (p.Pro2409Ser) c.6856C>T (p.Pro2286Ser) n.7225C>T c.7129C>T (p.Pro2377Ser) | ClinVar dbSNP |
| 13 | g.32355079del | CA024977 | BRCA2 | c.7226del (p.Pro2409LeufsTer?) c.6857del (p.Pro2286LeufsTer?) n.7226del c.7130del (p.Pro2377LeufsTer?) | ClinVar dbSNP |
| 13 | g.32355079C>A | CA387740213 | BRCA2 | c.7226C>A (p.Pro2409His) c.6857C>A (p.Pro2286His) n.7226C>A c.7130C>A (p.Pro2377His) | |
| 13 | g.32355079C= | CA2082809913 | BRCA2 | c.7226C= (p.Pro2409=) c.6857C= (p.Pro2286=) n.7226C= c.7130C= (p.Pro2377=) | |
| 13 | g.32355079C>G | CA387740217 | BRCA2 | c.7226C>G (p.Pro2409Arg) c.6857C>G (p.Pro2286Arg) n.7226C>G c.7130C>G (p.Pro2377Arg) | ClinVar dbSNP |
| 13 | g.32355079C>T | CA6941071 | BRCA2 | c.7226C>T (p.Pro2409Leu) c.6857C>T (p.Pro2286Leu) n.7226C>T c.7130C>T (p.Pro2377Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355079_32355080delinsCT | CA2082809916 | BRCA2 | c.7226_7227delinsCT (p.Pro2409=) c.6857_6858delinsCT (p.Pro2286=) n.7226_7227delinsCT c.7130_7131delinsCT (p.Pro2377=) | |
| 13 | g.32355080T>A | CA483439760 | BRCA2 | c.7227T>A (p.Pro2409=) c.6858T>A (p.Pro2286=) n.7227T>A c.7131T>A (p.Pro2377=) | ClinVar dbSNP |
| 13 | g.32355080T>C | CA483439762 | BRCA2 | c.7227T>C (p.Pro2409=) c.6858T>C (p.Pro2286=) n.7227T>C c.7131T>C (p.Pro2377=) | ClinVar dbSNP |
| 13 | g.32355080T>G | CA483439763 | BRCA2 | c.7227T>G (p.Pro2409=) c.6858T>G (p.Pro2286=) n.7227T>G c.7131T>G (p.Pro2377=) | |
| 13 | g.32355080T= | CA2082809923 | BRCA2 | c.7227T= (p.Pro2409=) c.6858T= (p.Pro2286=) n.7227T= c.7131T= (p.Pro2377=) | |
| 13 | g.32355083del | CA658656409 | BRCA2 | c.7230del (p.Phe2410LeufsTer?) c.6861del (p.Phe2287LeufsTer?) n.7230del c.7134del (p.Phe2378LeufsTer?) | ClinVar dbSNP |
| 13 | g.32355081T>A | CA387740225 | BRCA2 | c.7228T>A (p.Phe2410Ile) c.6859T>A (p.Phe2287Ile) n.7228T>A c.7132T>A (p.Phe2378Ile) | dbSNP |
| 13 | g.32355081T>C | CA387740229 | BRCA2 | c.7228T>C (p.Phe2410Leu) c.6859T>C (p.Phe2287Leu) n.7228T>C c.7132T>C (p.Phe2378Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355081T>G | CA387740234 | BRCA2 | c.7228T>G (p.Phe2410Val) c.6859T>G (p.Phe2287Val) n.7228T>G c.7132T>G (p.Phe2378Val) | |
| 13 | g.32355081T= | CA2082809927 | BRCA2 | c.7228T= (p.Phe2410=) c.6859T= (p.Phe2287=) n.7228T= c.7132T= (p.Phe2378=) | |
| 13 | g.32355082T>A | CA387740241 | BRCA2 | c.7229T>A (p.Phe2410Tyr) c.6860T>A (p.Phe2287Tyr) n.7229T>A c.7133T>A (p.Phe2378Tyr) | dbSNP |
| 13 | g.32355082T>C | CA387740242 | BRCA2 | c.7229T>C (p.Phe2410Ser) c.6860T>C (p.Phe2287Ser) n.7229T>C c.7133T>C (p.Phe2378Ser) | dbSNP |
| 13 | g.32355082T>G | CA387740238 | BRCA2 | c.7229T>G (p.Phe2410Cys) c.6860T>G (p.Phe2287Cys) n.7229T>G c.7133T>G (p.Phe2378Cys) | |
| 13 | g.32355083T>A | CA387740246 | BRCA2 | c.7230T>A (p.Phe2410Leu) c.6861T>A (p.Phe2287Leu) n.7230T>A c.7134T>A (p.Phe2378Leu) | |
| 13 | g.32355083T>C | CA483439767 | BRCA2 | c.7230T>C (p.Phe2410=) c.6861T>C (p.Phe2287=) n.7230T>C c.7134T>C (p.Phe2378=) | |
| 13 | g.32355083T>G | CA387740253 | BRCA2 | c.7230T>G (p.Phe2410Leu) c.6861T>G (p.Phe2287Leu) n.7230T>G c.7134T>G (p.Phe2378Leu) | |
| 13 | g.32355083_32355084delinsTA | CA2082809928 | BRCA2 | c.7230_7231delinsTA (p.Phe2410=) c.6861_6862delinsTA (p.Phe2287=) n.7230_7231delinsTA c.7134_7135delinsTA (p.Phe2378=) | |
| 13 | g.32355084A= | CA2082809940 | BRCA2 | c.7231A= (p.Lys2411=) c.6862A= (p.Lys2288=) n.7231A= c.7135A= (p.Lys2379=) | |
| 13 | g.32355084A>C | CA387740255 | BRCA2 | c.7231A>C (p.Lys2411Gln) c.6862A>C (p.Lys2288Gln) n.7231A>C c.7135A>C (p.Lys2379Gln) | |
| 13 | g.32355084A>G | CA6941072 | BRCA2 | c.7231A>G (p.Lys2411Glu) c.6862A>G (p.Lys2288Glu) n.7231A>G c.7135A>G (p.Lys2379Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355084A>T | CA387740272 | BRCA2 | c.7231A>T (p.Lys2411Ter) c.6862A>T (p.Lys2288Ter) n.7231A>T c.7135A>T (p.Lys2379Ter) | dbSNP |
| 13 | g.32355087del | CA645372931 | BRCA2 | c.7234del (p.Thr2412LeufsTer?) c.6865del (p.Thr2289LeufsTer?) n.7234del c.7138del (p.Thr2380LeufsTer?) | ClinVar dbSNP |
| 13 | g.32355085A= | CA2082809950 | BRCA2 | c.7232A= (p.Lys2411=) c.6863A= (p.Lys2288=) n.7232A= c.7136A= (p.Lys2379=) | |
| 13 | g.32355085A>C | CA024979 | BRCA2 | c.7232A>C (p.Lys2411Thr) c.6863A>C (p.Lys2288Thr) n.7232A>C c.7136A>C (p.Lys2379Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355085A>G | CA387740275 | BRCA2 | c.7232A>G (p.Lys2411Arg) c.6863A>G (p.Lys2288Arg) n.7232A>G c.7136A>G (p.Lys2379Arg) | dbSNP |
| 13 | g.32355085A>T | CA387740276 | BRCA2 | c.7232A>T (p.Lys2411Ile) c.6863A>T (p.Lys2288Ile) n.7232A>T c.7136A>T (p.Lys2379Ile) | dbSNP |
| 13 | g.32355086A= | CA2082809954 | BRCA2 | c.7233A= (p.Lys2411=) c.6864A= (p.Lys2288=) n.7233A= c.7137A= (p.Lys2379=) | |
| 13 | g.32355086A>C | CA387740279 | BRCA2 | c.7233A>C (p.Lys2411Asn) c.6864A>C (p.Lys2288Asn) n.7233A>C c.7137A>C (p.Lys2379Asn) | gnomAD v4 |
| 13 | g.32355086A>G | CA483439769 | BRCA2 | c.7233A>G (p.Lys2411=) c.6864A>G (p.Lys2288=) n.7233A>G c.7137A>G (p.Lys2379=) | |
| 13 | g.32355086A>T | CA387740295 | BRCA2 | c.7233A>T (p.Lys2411Asn) c.6864A>T (p.Lys2288Asn) n.7233A>T c.7137A>T (p.Lys2379Asn) | dbSNP |
| 13 | g.32355086_32355087insG | CA658823700 | BRCA2 | c.7233_7234insG (p.Thr2412AspfsTer2) c.6864_6865insG (p.Thr2289AspfsTer2) n.7233_7234insG c.7137_7138insG (p.Thr2380AspfsTer2) | ClinVar dbSNP |
| 13 | g.32355087A= | CA2082809966 | BRCA2 | c.7234A= (p.Thr2412=) c.6865A= (p.Thr2289=) n.7234A= c.7138A= (p.Thr2380=) | |
| 13 | g.32355087A>C | CA387740299 | BRCA2 | c.7234A>C (p.Thr2412Pro) c.6865A>C (p.Thr2289Pro) n.7234A>C c.7138A>C (p.Thr2380Pro) | ClinVar dbSNP |
| 13 | g.32355087A>G | CA10579729 | BRCA2 | c.7234A>G (p.Thr2412Ala) c.6865A>G (p.Thr2289Ala) n.7234A>G c.7138A>G (p.Thr2380Ala) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355087A>T | CA387740309 | BRCA2 | c.7234A>T (p.Thr2412Ser) c.6865A>T (p.Thr2289Ser) n.7234A>T c.7138A>T (p.Thr2380Ser) | dbSNP |
| 13 | g.32355087_32355088insG | CA024981 | BRCA2 | c.7234_7235insG (p.Thr2412SerfsTer2) c.6865_6866insG (p.Thr2289SerfsTer2) n.7234_7235insG c.7138_7139insG (p.Thr2380SerfsTer2) | ClinVar dbSNP |
| 13 | g.32355088C>A | CA387740313 | BRCA2 | c.7235C>A (p.Thr2412Asn) c.6866C>A (p.Thr2289Asn) n.7235C>A c.7139C>A (p.Thr2380Asn) | dbSNP gnomAD v4 |
| 13 | g.32355088C= | CA2082809992 | BRCA2 | c.7235C= (p.Thr2412=) c.6866C= (p.Thr2289=) n.7235C= c.7139C= (p.Thr2380=) | |
| 13 | g.32355088C>G | CA387740310 | BRCA2 | c.7235C>G (p.Thr2412Ser) c.6866C>G (p.Thr2289Ser) n.7235C>G c.7139C>G (p.Thr2380Ser) | ClinVar gnomAD v4 |
| 13 | g.32355088C>T | CA024985 | BRCA2 | c.7235C>T (p.Thr2412Ile) c.6866C>T (p.Thr2289Ile) n.7235C>T c.7139C>T (p.Thr2380Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355088_32355092delinsCTAAA | CA2082810003 | BRCA2 | c.7235_7239delinsCTAAA (p.Thr2412=) c.6866_6870delinsCTAAA (p.Thr2289=) n.7235_7239delinsCTAAA c.7139_7143delinsCTAAA (p.Thr2380=) | |
| 13 | g.32355088_32355089insG | CA024983 | BRCA2 | c.7235_7236insG (p.Lys2413Ter) c.6866_6867insG (p.Lys2290Ter) n.7235_7236insG c.7139_7140insG (p.Lys2381Ter) | ClinVar dbSNP |
| 13 | g.32355089T>A | CA483439777 | BRCA2 | c.7236T>A (p.Thr2412=) c.6867T>A (p.Thr2289=) n.7236T>A c.7140T>A (p.Thr2380=) | |
| 13 | g.32355089T>C | CA483439778 | BRCA2 | c.7236T>C (p.Thr2412=) c.6867T>C (p.Thr2289=) n.7236T>C c.7140T>C (p.Thr2380=) | |
| 13 | g.32355089T>G | CA483439776 | BRCA2 | c.7236T>G (p.Thr2412=) c.6867T>G (p.Thr2289=) n.7236T>G c.7140T>G (p.Thr2380=) | ClinVar dbSNP |
| 13 | g.32355089T= | CA2082810023 | BRCA2 | c.7236T= (p.Thr2412=) c.6867T= (p.Thr2289=) n.7236T= c.7140T= (p.Thr2380=) | |
| 13 | g.32355090_32355093del | CA891844183 | BRCA2 | c.7237_7240del (p.Lys2413HisfsTer?) c.6868_6871del (p.Lys2290HisfsTer?) n.7237_7240del c.7141_7144del (p.Lys2381HisfsTer?) | ClinVar dbSNP |
| 13 | g.32355090A= | CA2082810036 | BRCA2 | c.7237A= (p.Lys2413=) c.6868A= (p.Lys2290=) n.7237A= c.7141A= (p.Lys2381=) | |
| 13 | g.32355090A>C | CA387740316 | BRCA2 | c.7237A>C (p.Lys2413Gln) c.6868A>C (p.Lys2290Gln) n.7237A>C c.7141A>C (p.Lys2381Gln) | ClinVar dbSNP |
| 13 | g.32355090A>G | CA387740317 | BRCA2 | c.7237A>G (p.Lys2413Glu) c.6868A>G (p.Lys2290Glu) n.7237A>G c.7141A>G (p.Lys2381Glu) | ClinVar dbSNP |
| 13 | g.32355090A>T | CA387740318 | BRCA2 | c.7237A>T (p.Lys2413Ter) c.6868A>T (p.Lys2290Ter) n.7237A>T c.7141A>T (p.Lys2381Ter) | |
| 13 | g.32355091A>C | CA387740319 | BRCA2 | c.7238A>C (p.Lys2413Thr) c.6869A>C (p.Lys2290Thr) n.7238A>C c.7142A>C (p.Lys2381Thr) | |
| 13 | g.32355091A>G | CA387740321 | BRCA2 | c.7238A>G (p.Lys2413Arg) c.6869A>G (p.Lys2290Arg) n.7238A>G c.7142A>G (p.Lys2381Arg) | |
| 13 | g.32355091A>T | CA387740323 | BRCA2 | c.7238A>T (p.Lys2413Ile) c.6869A>T (p.Lys2290Ile) n.7238A>T c.7142A>T (p.Lys2381Ile) | dbSNP |
| 13 | g.32355092A= | CA2082810065 | BRCA2 | c.7239A= (p.Lys2413=) c.6870A= (p.Lys2290=) n.7239A= c.7143A= (p.Lys2381=) | |
| 13 | g.32355092A>C | CA387740328 | BRCA2 | c.7239A>C (p.Lys2413Asn) c.6870A>C (p.Lys2290Asn) n.7239A>C c.7143A>C (p.Lys2381Asn) | |
| 13 | g.32355092A>G | CA339246 | BRCA2 | c.7239A>G (p.Lys2413=) c.6870A>G (p.Lys2290=) n.7239A>G c.7143A>G (p.Lys2381=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355092A>T | CA387740345 | BRCA2 | c.7239A>T (p.Lys2413Asn) c.6870A>T (p.Lys2290Asn) n.7239A>T c.7143A>T (p.Lys2381Asn) | dbSNP |
| 13 | g.32355093T>A | CA387740354 | BRCA2 | c.7240T>A (p.Ser2414Thr) c.6871T>A (p.Ser2291Thr) n.7240T>A c.7144T>A (p.Ser2382Thr) | dbSNP |
| 13 | g.32355093T>C | CA387740356 | BRCA2 | c.7240T>C (p.Ser2414Pro) c.6871T>C (p.Ser2291Pro) n.7240T>C c.7144T>C (p.Ser2382Pro) | ClinVar dbSNP |
| 13 | g.32355093T>G | CA387740364 | BRCA2 | c.7240T>G (p.Ser2414Ala) c.6871T>G (p.Ser2291Ala) n.7240T>G c.7144T>G (p.Ser2382Ala) | ClinVar dbSNP |
| 13 | g.32355093T= | CA2082810074 | BRCA2 | c.7240T= (p.Ser2414=) c.6871T= (p.Ser2291=) n.7240T= c.7144T= (p.Ser2382=) | |
| 13 | g.32355094C>A | CA387740371 | BRCA2 | c.7241C>A (p.Ser2414Ter) c.6872C>A (p.Ser2291Ter) n.7241C>A c.7145C>A (p.Ser2382Ter) | ClinVar |
| 13 | g.32355094C= | CA2082810093 | BRCA2 | c.7241C= (p.Ser2414=) c.6872C= (p.Ser2291=) n.7241C= c.7145C= (p.Ser2382=) | |
| 13 | g.32355094C>G | CA024987 | BRCA2 | c.7241C>G (p.Ser2414Ter) c.6872C>G (p.Ser2291Ter) n.7241C>G c.7145C>G (p.Ser2382Ter) | ClinVar dbSNP |
| 13 | g.32355094C>T | CA024989 | BRCA2 | c.7241C>T (p.Ser2414Leu) c.6872C>T (p.Ser2291Leu) n.7241C>T c.7145C>T (p.Ser2382Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355094_32355095delinsAC | CA658798113 | BRCA2 | c.7241_7242delinsAC (p.Ser2414Tyr) c.6872_6873delinsAC (p.Ser2291Tyr) n.7241_7242delinsAC c.7145_7146delinsAC (p.Ser2382Tyr) | dbSNP |
| 13 | g.32355094_32355095delinsCA | CA2082810103 | BRCA2 | c.7241_7242delinsCA (p.Ser2414=) c.6872_6873delinsCA (p.Ser2291=) n.7241_7242delinsCA c.7145_7146delinsCA (p.Ser2382=) | |
| 13 | g.32355094_32355095delinsTG | CA10583126 | BRCA2 | c.7241_7242delinsTG (p.Ser2414Leu) c.6872_6873delinsTG (p.Ser2291Leu) n.7241_7242delinsTG c.7145_7146delinsTG (p.Ser2382Leu) | ClinVar COSMIC |
| 13 | g.32355094_32355095insTA | CA2739277509 | BRCA2 | c.7241_7242insTA (p.His2415AsnfsTer?) c.6872_6873insTA (p.His2292AsnfsTer?) n.7241_7242insTA c.7145_7146insTA (p.His2383AsnfsTer?) | ClinVar |
| 13 | g.32355095A= | CA1630855884 | BRCA2 | c.7242A= (p.Ser2414=) c.6873A= (p.Ser2291=) n.7242A= c.7146A= (p.Ser2382=) | |
| 13 | g.32355095A>C | CA483439786 | BRCA2 | c.7242A>C (p.Ser2414=) c.6873A>C (p.Ser2291=) n.7242A>C c.7146A>C (p.Ser2382=) | |
| 13 | g.32355095A>G | CA024992 | BRCA2 | c.7242A>G (p.Ser2414=) c.6873A>G (p.Ser2291=) n.7242A>G c.7146A>G (p.Ser2382=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355095A>T | CA6941073 | BRCA2 | c.7242A>T (p.Ser2414=) c.6873A>T (p.Ser2291=) n.7242A>T c.7146A>T (p.Ser2382=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355095delinsTAG | CA1139663170 | BRCA2 | c.7242delinsTAG (p.His2415SerfsTer?) c.6873delinsTAG (p.His2292SerfsTer?) n.7242delinsTAG c.7146delinsTAG (p.His2383SerfsTer?) | dbSNP |
| 13 | g.32355096C>A | CA387740384 | BRCA2 | c.7243C>A (p.His2415Asn) c.6874C>A (p.His2292Asn) n.7243C>A c.7147C>A (p.His2383Asn) | COSMIC |
| 13 | g.32355096C>G | CA387740396 | BRCA2 | c.7243C>G (p.His2415Asp) c.6874C>G (p.His2292Asp) n.7243C>G c.7147C>G (p.His2383Asp) | dbSNP |
| 13 | g.32355096C>T | CA387740401 | BRCA2 | c.7243C>T (p.His2415Tyr) c.6874C>T (p.His2292Tyr) n.7243C>T c.7147C>T (p.His2383Tyr) | dbSNP gnomAD v4 |
| 13 | g.32355097A= | CA2082810133 | BRCA2 | c.7244A= (p.His2415=) c.6875A= (p.His2292=) n.7244A= c.7148A= (p.His2383=) | |
| 13 | g.32355097A>C | CA387740409 | BRCA2 | c.7244A>C (p.His2415Pro) c.6875A>C (p.His2292Pro) n.7244A>C c.7148A>C (p.His2383Pro) | ClinVar |
| 13 | g.32355097A>G | CA6941074 | BRCA2 | c.7244A>G (p.His2415Arg) c.6875A>G (p.His2292Arg) n.7244A>G c.7148A>G (p.His2383Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355097A>T | CA387740406 | BRCA2 | c.7244A>T (p.His2415Leu) c.6875A>T (p.His2292Leu) n.7244A>T c.7148A>T (p.His2383Leu) | |
| 13 | g.32355097_32355098delinsAT | CA2082810137 | BRCA2 | c.7244_7245delinsAT (p.His2415=) c.6875_6876delinsAT (p.His2292=) n.7244_7245delinsAT c.7148_7149delinsAT (p.His2383=) | |
| 13 | g.32355098T>A | CA387740417 | BRCA2 | c.7245T>A (p.His2415Gln) c.6876T>A (p.His2292Gln) n.7245T>A c.7149T>A (p.His2383Gln) | |
| 13 | g.32355098T>C | CA483439788 | BRCA2 | c.7245T>C (p.His2415=) c.6876T>C (p.His2292=) n.7245T>C c.7149T>C (p.His2383=) | |
| 13 | g.32355098T>G | CA387740422 | BRCA2 | c.7245T>G (p.His2415Gln) c.6876T>G (p.His2292Gln) n.7245T>G c.7149T>G (p.His2383Gln) | dbSNP |
| 13 | g.32355101dup | CA2727841603 | BRCA2 | c.7248dup (p.His2417SerfsTer4) c.6879dup (p.His2294SerfsTer4) n.7248dup c.7152dup (p.His2385SerfsTer4) | dbSNP |
| 13 | g.32355101del | CA10586570 | BRCA2 | c.7248del (p.His2417ThrfsTer?) c.6879del (p.His2294ThrfsTer?) n.7248del c.7152del (p.His2385ThrfsTer?) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355099T>A | CA387740426 | BRCA2 | c.7246T>A (p.Phe2416Ile) c.6877T>A (p.Phe2293Ile) n.7246T>A c.7150T>A (p.Phe2384Ile) | dbSNP |
| 13 | g.32355099T>C | CA387740427 | BRCA2 | c.7246T>C (p.Phe2416Leu) c.6877T>C (p.Phe2293Leu) n.7246T>C c.7150T>C (p.Phe2384Leu) | |
| 13 | g.32355099T>G | CA387740430 | BRCA2 | c.7246T>G (p.Phe2416Val) c.6877T>G (p.Phe2293Val) n.7246T>G c.7150T>G (p.Phe2384Val) | ClinVar dbSNP |
| 13 | g.32355099T= | CA2082810145 | BRCA2 | c.7246T= (p.Phe2416=) c.6877T= (p.Phe2293=) n.7246T= c.7150T= (p.Phe2384=) | |
| 13 | g.32355100T>A | CA387740435 | BRCA2 | c.7247T>A (p.Phe2416Tyr) c.6878T>A (p.Phe2293Tyr) n.7247T>A c.7151T>A (p.Phe2384Tyr) | dbSNP |
| 13 | g.32355100T>C | CA387740438 | BRCA2 | c.7247T>C (p.Phe2416Ser) c.6878T>C (p.Phe2293Ser) n.7247T>C c.7151T>C (p.Phe2384Ser) | dbSNP |
| 13 | g.32355100T>G | CA387740434 | BRCA2 | c.7247T>G (p.Phe2416Cys) c.6878T>G (p.Phe2293Cys) n.7247T>G c.7151T>G (p.Phe2384Cys) | |
| 13 | g.32355101T>A | CA387740441 | BRCA2 | c.7248T>A (p.Phe2416Leu) c.6879T>A (p.Phe2293Leu) n.7248T>A c.7152T>A (p.Phe2384Leu) | |
| 13 | g.32355101T>C | CA483439790 | BRCA2 | c.7248T>C (p.Phe2416=) c.6879T>C (p.Phe2293=) n.7248T>C c.7152T>C (p.Phe2384=) | ClinVar dbSNP |
| 13 | g.32355101T>G | CA387740451 | BRCA2 | c.7248T>G (p.Phe2416Leu) c.6879T>G (p.Phe2293Leu) n.7248T>G c.7152T>G (p.Phe2384Leu) | |
| 13 | g.32355101T= | CA2082810151 | BRCA2 | c.7248T= (p.Phe2416=) c.6879T= (p.Phe2293=) n.7248T= c.7152T= (p.Phe2384=) | |
| 13 | g.32355101_32355103delinsTCA | CA2082810150 | BRCA2 | c.7248_7250delinsTCA (p.Phe2416=) c.6879_6881delinsTCA (p.Phe2293=) n.7248_7250delinsTCA c.7152_7154delinsTCA (p.Phe2384=) | |
| 13 | g.32355102C>A | CA387740454 | BRCA2 | c.7249C>A (p.His2417Asn) c.6880C>A (p.His2294Asn) n.7249C>A c.7153C>A (p.His2385Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355102C= | CA2082810174 | BRCA2 | c.7249C= (p.His2417=) c.6880C= (p.His2294=) n.7249C= c.7153C= (p.His2385=) | |
| 13 | g.32355102C>G | CA387740456 | BRCA2 | c.7249C>G (p.His2417Asp) c.6880C>G (p.His2294Asp) n.7249C>G c.7153C>G (p.His2385Asp) | ClinVar dbSNP |
| 13 | g.32355102C>T | CA387740458 | BRCA2 | c.7249C>T (p.His2417Tyr) c.6880C>T (p.His2294Tyr) n.7249C>T c.7153C>T (p.His2385Tyr) | ClinVar dbSNP |
| 13 | g.32355104_32355105del | CA024993 | BRCA2 | c.7251_7252del (p.His2417GlnfsTer3) c.6882_6883del (p.His2294GlnfsTer3) n.7251_7252del c.7155_7156del (p.His2385GlnfsTer3) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355103A= | CA2082810188 | BRCA2 | c.7250A= (p.His2417=) c.6881A= (p.His2294=) n.7250A= c.7154A= (p.His2385=) | |
| 13 | g.32355103A>C | CA387740470 | BRCA2 | c.7250A>C (p.His2417Pro) c.6881A>C (p.His2294Pro) n.7250A>C c.7154A>C (p.His2385Pro) | gnomAD v4 |
| 13 | g.32355103A>G | CA6941075 | BRCA2 | c.7250A>G (p.His2417Arg) c.6881A>G (p.His2294Arg) n.7250A>G c.7154A>G (p.His2385Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355103A>T | CA387740466 | BRCA2 | c.7250A>T (p.His2417Leu) c.6881A>T (p.His2294Leu) n.7250A>T c.7154A>T (p.His2385Leu) | ClinVar dbSNP |
| 13 | g.32355104C>A | CA387740472 | BRCA2 | c.7251C>A (p.His2417Gln) c.6882C>A (p.His2294Gln) n.7251C>A c.7155C>A (p.His2385Gln) | |
| 13 | g.32355104C= | CA2082810240 | BRCA2 | c.7251C= (p.His2417=) c.6882C= (p.His2294=) n.7251C= c.7155C= (p.His2385=) | |
| 13 | g.32355104C>G | CA387740475 | BRCA2 | c.7251C>G (p.His2417Gln) c.6882C>G (p.His2294Gln) n.7251C>G c.7155C>G (p.His2385Gln) | dbSNP gnomAD v4 |
| 13 | g.32355104C>T | CA10579730 | BRCA2 | c.7251C>T (p.His2417=) c.6882C>T (p.His2294=) n.7251C>T c.7155C>T (p.His2385=) | ClinVar dbSNP |
| 13 | g.32355104_32355105delinsCA | CA2082810246 | BRCA2 | c.7251_7252delinsCA (p.His2417=) c.6882_6883delinsCA (p.His2294=) n.7251_7252delinsCA c.7155_7156delinsCA (p.His2385=) | |
| 13 | g.32355104_32355106delinsCAG | CA2082810223 | BRCA2 | c.7251_7253delinsCAG (p.His2417=) c.6882_6884delinsCAG (p.His2294=) n.7251_7253delinsCAG c.7155_7157delinsCAG (p.His2385=) | |
| 13 | g.32355105del | CA658656415 | BRCA2 | c.7252del (p.Arg2418GlufsTer?) c.6883del (p.Arg2295GlufsTer?) n.7252del c.7156del (p.Arg2386GlufsTer?) | ClinVar dbSNP |
| 13 | g.32355105A= | CA2082810268 | BRCA2 | c.7252A= (p.Arg2418=) c.6883A= (p.Arg2295=) n.7252A= c.7156A= (p.Arg2386=) | |
| 13 | g.32355105A>C | CA483439791 | BRCA2 | c.7252A>C (p.Arg2418=) c.6883A>C (p.Arg2295=) n.7252A>C c.7156A>C (p.Arg2386=) | |
| 13 | g.32355105A>G | CA024996 | BRCA2 | c.7252A>G (p.Arg2418Gly) c.6883A>G (p.Arg2295Gly) n.7252A>G c.7156A>G (p.Arg2386Gly) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355105A>T | CA387740481 | BRCA2 | c.7252A>T (p.Arg2418Ter) c.6883A>T (p.Arg2295Ter) n.7252A>T c.7156A>T (p.Arg2386Ter) | ClinVar dbSNP |
| 13 | g.32355107_32355108del | CA025000 | BRCA2 | c.7254_7255del (p.Arg2418SerfsTer2) c.6885_6886del (p.Arg2295SerfsTer2) n.7254_7255del c.7158_7159del (p.Arg2386SerfsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355106G>A | CA024998 | BRCA2 | c.7253G>A (p.Arg2418Lys) c.6884G>A (p.Arg2295Lys) n.7253G>A c.7157G>A (p.Arg2386Lys) | ClinVar dbSNP |
| 13 | g.32355106G>C | CA387740495 | BRCA2 | c.7253G>C (p.Arg2418Thr) c.6884G>C (p.Arg2295Thr) n.7253G>C c.7157G>C (p.Arg2386Thr) | dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32355106G= | CA2082810275 | BRCA2 | c.7253G= (p.Arg2418=) c.6884G= (p.Arg2295=) n.7253G= c.7157G= (p.Arg2386=) | |
| 13 | g.32355106G>T | CA387740493 | BRCA2 | c.7253G>T (p.Arg2418Ile) c.6884G>T (p.Arg2295Ile) n.7253G>T c.7157G>T (p.Arg2386Ile) | dbSNP COSMIC COSMIC |
| 13 | g.32355107A>C | CA387740496 | BRCA2 | c.7254A>C (p.Arg2418Ser) c.6885A>C (p.Arg2295Ser) n.7254A>C c.7158A>C (p.Arg2386Ser) | |
| 13 | g.32355107A>G | CA483439792 | BRCA2 | c.7254A>G (p.Arg2418=) c.6885A>G (p.Arg2295=) n.7254A>G c.7158A>G (p.Arg2386=) | |
| 13 | g.32355107A>T | CA387740505 | BRCA2 | c.7254A>T (p.Arg2418Ser) c.6885A>T (p.Arg2295Ser) n.7254A>T c.7158A>T (p.Arg2386Ser) | dbSNP |
| 13 | g.32355108G>A | CA387740507 | BRCA2 | c.7255G>A (p.Val2419Ile) c.6886G>A (p.Val2296Ile) n.7255G>A c.7159G>A (p.Val2387Ile) | ClinVar |
| 13 | g.32355108G>C | CA387740508 | BRCA2 | c.7255G>C (p.Val2419Leu) c.6886G>C (p.Val2296Leu) n.7255G>C c.7159G>C (p.Val2387Leu) | |
| 13 | g.32355108G= | CA2082810279 | BRCA2 | c.7255G= (p.Val2419=) c.6886G= (p.Val2296=) n.7255G= c.7159G= (p.Val2387=) | |
| 13 | g.32355108G>T | CA387740509 | BRCA2 | c.7255G>T (p.Val2419Phe) c.6886G>T (p.Val2296Phe) n.7255G>T c.7159G>T (p.Val2387Phe) | ClinVar dbSNP |
| 13 | g.32355109T>A | CA387740510 | BRCA2 | c.7256T>A (p.Val2419Asp) c.6887T>A (p.Val2296Asp) n.7256T>A c.7160T>A (p.Val2387Asp) | dbSNP |
| 13 | g.32355109T>C | CA387740513 | BRCA2 | c.7256T>C (p.Val2419Ala) c.6887T>C (p.Val2296Ala) n.7256T>C c.7160T>C (p.Val2387Ala) | dbSNP gnomAD v4 |
| 13 | g.32355109T>G | CA387740514 | BRCA2 | c.7256T>G (p.Val2419Gly) c.6887T>G (p.Val2296Gly) n.7256T>G c.7160T>G (p.Val2387Gly) | ClinVar |
| 13 | g.32355109T= | CA2082810295 | BRCA2 | c.7256T= (p.Val2419=) c.6887T= (p.Val2296=) n.7256T= c.7160T= (p.Val2387=) | |
| 13 | g.32355110T>A | CA483439793 | BRCA2 | c.7257T>A (p.Val2419=) c.6888T>A (p.Val2296=) n.7257T>A c.7161T>A (p.Val2387=) | dbSNP |
| 13 | g.32355110T>C | CA247468604 | BRCA2 | c.7257T>C (p.Val2419=) c.6888T>C (p.Val2296=) n.7257T>C c.7161T>C (p.Val2387=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355110T>G | CA483439794 | BRCA2 | c.7257T>G (p.Val2419=) c.6888T>G (p.Val2296=) n.7257T>G c.7161T>G (p.Val2387=) | |
| 13 | g.32355110T= | CA2082810303 | BRCA2 | c.7257T= (p.Val2419=) c.6888T= (p.Val2296=) n.7257T= c.7161T= (p.Val2387=) | |
| 13 | g.32355110_32355111dup | CA919242720 | BRCA2 | c.7257_7258dup (p.Glu2420ValfsTer?) c.6888_6889dup (p.Glu2297ValfsTer?) n.7257_7258dup c.7161_7162dup (p.Glu2388ValfsTer?) | dbSNP |
| 13 | g.32355112_32355118del | CA2499222277 | BRCA2 | c.7259_7265del (p.Glu2420ValfsTer?) c.6890_6896del (p.Glu2297ValfsTer?) n.7259_7265del c.7163_7169del (p.Glu2388ValfsTer?) | |
| 13 | g.32355111G>A | CA387740528 | BRCA2 | c.7258G>A (p.Glu2420Lys) c.6889G>A (p.Glu2297Lys) n.7258G>A c.7162G>A (p.Glu2388Lys) | dbSNP |
| 13 | g.32355111G>C | CA387740532 | BRCA2 | c.7258G>C (p.Glu2420Gln) c.6889G>C (p.Glu2297Gln) n.7258G>C c.7162G>C (p.Glu2388Gln) | dbSNP |
| 13 | g.32355111G= | CA2082810309 | BRCA2 | c.7258G= (p.Glu2420=) c.6889G= (p.Glu2297=) n.7258G= c.7162G= (p.Glu2388=) | |
| 13 | g.32355111G>T | CA025002 | BRCA2 | c.7258G>T (p.Glu2420Ter) c.6889G>T (p.Glu2297Ter) n.7258G>T c.7162G>T (p.Glu2388Ter) | ClinVar dbSNP |
| 13 | g.32355112A>C | CA387740543 | BRCA2 | c.7259A>C (p.Glu2420Ala) c.6890A>C (p.Glu2297Ala) n.7259A>C c.7163A>C (p.Glu2388Ala) | |
| 13 | g.32355112A>G | CA387740542 | BRCA2 | c.7259A>G (p.Glu2420Gly) c.6890A>G (p.Glu2297Gly) n.7259A>G c.7163A>G (p.Glu2388Gly) | dbSNP |
| 13 | g.32355112A>T | CA387740537 | BRCA2 | c.7259A>T (p.Glu2420Val) c.6890A>T (p.Glu2297Val) n.7259A>T c.7163A>T (p.Glu2388Val) | dbSNP |
| 13 | g.32355112_32355113insGAA | CA2695217917 | BRCA2 | c.7259_7260insGAA (p.Glu2420_Gln2421insLys) c.6890_6891insGAA (p.Glu2297_Gln2298insLys) n.7259_7260insGAA c.7163_7164insGAA (p.Glu2388_Gln2389insLys) | |
| 13 | g.32355113A>C | CA387740546 | BRCA2 | c.7260A>C (p.Glu2420Asp) c.6891A>C (p.Glu2297Asp) n.7260A>C c.7164A>C (p.Glu2388Asp) | dbSNP |
| 13 | g.32355113A>G | CA483439795 | BRCA2 | c.7260A>G (p.Glu2420=) c.6891A>G (p.Glu2297=) n.7260A>G c.7164A>G (p.Glu2388=) | ClinVar COSMIC COSMIC |
| 13 | g.32355113A>T | CA387740548 | BRCA2 | c.7260A>T (p.Glu2420Asp) c.6891A>T (p.Glu2297Asp) n.7260A>T c.7164A>T (p.Glu2388Asp) | dbSNP |
| 13 | g.32355114C>A | CA387740550 | BRCA2 | c.7261C>A (p.Gln2421Lys) c.6892C>A (p.Gln2298Lys) n.7261C>A c.7165C>A (p.Gln2389Lys) | dbSNP |
| 13 | g.32355114C= | CA2082810323 | BRCA2 | c.7261C= (p.Gln2421=) c.6892C= (p.Gln2298=) n.7261C= c.7165C= (p.Gln2389=) | |
| 13 | g.32355114C>G | CA387740552 | BRCA2 | c.7261C>G (p.Gln2421Glu) c.6892C>G (p.Gln2298Glu) n.7261C>G c.7165C>G (p.Gln2389Glu) | dbSNP |
| 13 | g.32355114C>T | CA025004 | BRCA2 | c.7261C>T (p.Gln2421Ter) c.6892C>T (p.Gln2298Ter) n.7261C>T c.7165C>T (p.Gln2389Ter) | ClinVar dbSNP |
| 13 | g.32355115A= | CA2082810333 | BRCA2 | c.7262A= (p.Gln2421=) c.6893A= (p.Gln2298=) n.7262A= c.7166A= (p.Gln2389=) | |
| 13 | g.32355115A>C | CA387740554 | BRCA2 | c.7262A>C (p.Gln2421Pro) c.6893A>C (p.Gln2298Pro) n.7262A>C c.7166A>C (p.Gln2389Pro) | gnomAD v4 |
| 13 | g.32355115A>G | CA387740555 | BRCA2 | c.7262A>G (p.Gln2421Arg) c.6893A>G (p.Gln2298Arg) n.7262A>G c.7166A>G (p.Gln2389Arg) | ClinVar dbSNP |
| 13 | g.32355115A>T | CA387740556 | BRCA2 | c.7262A>T (p.Gln2421Leu) c.6893A>T (p.Gln2298Leu) n.7262A>T c.7166A>T (p.Gln2389Leu) | dbSNP |
| 13 | g.32355115_32355117delinsAGT | CA2082810332 | BRCA2 | c.7262_7264delinsAGT (p.Gln2421=) c.6893_6895delinsAGT (p.Gln2298=) n.7262_7264delinsAGT c.7166_7168delinsAGT (p.Gln2389=) | |
| 13 | g.32355116G>A | CA483439796 | BRCA2 | c.7263G>A (p.Gln2421=) c.6894G>A (p.Gln2298=) n.7263G>A c.7167G>A (p.Gln2389=) | ClinVar dbSNP |
| 13 | g.32355116G>C | CA387740557 | BRCA2 | c.7263G>C (p.Gln2421His) c.6894G>C (p.Gln2298His) n.7263G>C c.7167G>C (p.Gln2389His) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355116G= | CA2082810350 | BRCA2 | c.7263G= (p.Gln2421=) c.6894G= (p.Gln2298=) n.7263G= c.7167G= (p.Gln2389=) | |
| 13 | g.32355116G>T | CA387740559 | BRCA2 | c.7263G>T (p.Gln2421His) c.6894G>T (p.Gln2298His) n.7263G>T c.7167G>T (p.Gln2389His) | |
| 13 | g.32355120_32355121del | CA916080533 | BRCA2 | c.7267_7268del (p.Val2423Ter) c.6898_6899del (p.Val2300Ter) n.7267_7268del c.7171_7172del (p.Val2391Ter) | ClinVar dbSNP |
| 13 | g.32355117T>A | CA387740562 | BRCA2 | c.7264T>A (p.Cys2422Ser) c.6895T>A (p.Cys2299Ser) n.7264T>A c.7168T>A (p.Cys2390Ser) | dbSNP |
| 13 | g.32355117T>C | CA387740563 | BRCA2 | c.7264T>C (p.Cys2422Arg) c.6895T>C (p.Cys2299Arg) n.7264T>C c.7168T>C (p.Cys2390Arg) | |
| 13 | g.32355117T>G | CA387740564 | BRCA2 | c.7264T>G (p.Cys2422Gly) c.6895T>G (p.Cys2299Gly) n.7264T>G c.7168T>G (p.Cys2390Gly) | |
| 13 | g.32355118G>A | CA387740565 | BRCA2 | c.7265G>A (p.Cys2422Tyr) c.6896G>A (p.Cys2299Tyr) n.7265G>A c.7169G>A (p.Cys2390Tyr) | dbSNP |
| 13 | g.32355118G>C | CA387740566 | BRCA2 | c.7265G>C (p.Cys2422Ser) c.6896G>C (p.Cys2299Ser) n.7265G>C c.7169G>C (p.Cys2390Ser) | dbSNP |
| 13 | g.32355118G>T | CA387740568 | BRCA2 | c.7265G>T (p.Cys2422Phe) c.6896G>T (p.Cys2299Phe) n.7265G>T c.7169G>T (p.Cys2390Phe) | ClinVar |
| 13 | g.32355119T>A | CA025006 | BRCA2 | c.7266T>A (p.Cys2422Ter) c.6897T>A (p.Cys2299Ter) n.7266T>A c.7170T>A (p.Cys2390Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32355119T>C | CA483439797 | BRCA2 | c.7266T>C (p.Cys2422=) c.6897T>C (p.Cys2299=) n.7266T>C c.7170T>C (p.Cys2390=) | |
| 13 | g.32355119T>G | CA387740571 | BRCA2 | c.7266T>G (p.Cys2422Trp) c.6897T>G (p.Cys2299Trp) n.7266T>G c.7170T>G (p.Cys2390Trp) | |
| 13 | g.32355119T= | CA2082810374 | BRCA2 | c.7266T= (p.Cys2422=) c.6897T= (p.Cys2299=) n.7266T= c.7170T= (p.Cys2390=) | |
| 13 | g.32355120G>A | CA387740572 | BRCA2 | c.7267G>A (p.Val2423Ile) c.6898G>A (p.Val2300Ile) n.7267G>A c.7171G>A (p.Val2391Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355120G>C | CA387740574 | BRCA2 | c.7267G>C (p.Val2423Leu) c.6898G>C (p.Val2300Leu) n.7267G>C c.7171G>C (p.Val2391Leu) | |
| 13 | g.32355120G= | CA2082810381 | BRCA2 | c.7267G= (p.Val2423=) c.6898G= (p.Val2300=) n.7267G= c.7171G= (p.Val2391=) | |
| 13 | g.32355120G>T | CA387740576 | BRCA2 | c.7267G>T (p.Val2423Phe) c.6898G>T (p.Val2300Phe) n.7267G>T c.7171G>T (p.Val2391Phe) | gnomAD v4 |
| 13 | g.32355121T>A | CA387740579 | BRCA2 | c.7268T>A (p.Val2423Asp) c.6899T>A (p.Val2300Asp) n.7268T>A c.7172T>A (p.Val2391Asp) | dbSNP |
| 13 | g.32355121T>C | CA387740582 | BRCA2 | c.7268T>C (p.Val2423Ala) c.6899T>C (p.Val2300Ala) n.7268T>C c.7172T>C (p.Val2391Ala) | |
| 13 | g.32355121T>G | CA387740591 | BRCA2 | c.7268T>G (p.Val2423Gly) c.6899T>G (p.Val2300Gly) n.7268T>G c.7172T>G (p.Val2391Gly) | dbSNP |
| 13 | g.32355122T>A | CA483439799 | BRCA2 | c.7269T>A (p.Val2423=) c.6900T>A (p.Val2300=) n.7269T>A c.7173T>A (p.Val2391=) | dbSNP |
| 13 | g.32355122T>C | CA247468611 | BRCA2 | c.7269T>C (p.Val2423=) c.6900T>C (p.Val2300=) n.7269T>C c.7173T>C (p.Val2391=) | ClinVar dbSNP |
| 13 | g.32355122T>G | CA483439798 | BRCA2 | c.7269T>G (p.Val2423=) c.6900T>G (p.Val2300=) n.7269T>G c.7173T>G (p.Val2391=) | |
| 13 | g.32355122T= | CA2082810397 | BRCA2 | c.7269T= (p.Val2423=) c.6900T= (p.Val2300=) n.7269T= c.7173T= (p.Val2391=) | |
| 13 | g.32355123A= | CA2082810405 | BRCA2 | c.7270A= (p.Arg2424=) c.6901A= (p.Arg2301=) n.7270A= c.7174A= (p.Arg2392=) | |
| 13 | g.32355123A>C | CA483439800 | BRCA2 | c.7270A>C (p.Arg2424=) c.6901A>C (p.Arg2301=) n.7270A>C c.7174A>C (p.Arg2392=) | ClinVar dbSNP |
| 13 | g.32355123A>G | CA025008 | BRCA2 | c.7270A>G (p.Arg2424Gly) c.6901A>G (p.Arg2301Gly) n.7270A>G c.7174A>G (p.Arg2392Gly) | ClinVar dbSNP gnomAD v2 |
| 13 | g.32355123A>T | CA387740596 | BRCA2 | c.7270A>T (p.Arg2424Trp) c.6901A>T (p.Arg2301Trp) n.7270A>T c.7174A>T (p.Arg2392Trp) | dbSNP |
| 13 | g.32355123dup | CA1139663172 | BRCA2 | c.7270dup (p.Arg2424LysfsTer4) c.6901dup (p.Arg2301LysfsTer4) n.7270dup c.7174dup (p.Arg2392LysfsTer4) | ClinVar dbSNP |
| 13 | g.32355124G>A | CA387740597 | BRCA2 | c.7271G>A (p.Arg2424Lys) c.6902G>A (p.Arg2301Lys) n.7271G>A c.7175G>A (p.Arg2392Lys) | ClinVar dbSNP |
| 13 | g.32355124G>C | CA6941076 | BRCA2 | c.7271G>C (p.Arg2424Thr) c.6902G>C (p.Arg2301Thr) n.7271G>C c.7175G>C (p.Arg2392Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355124G= | CA2082810415 | BRCA2 | c.7271G= (p.Arg2424=) c.6902G= (p.Arg2301=) n.7271G= c.7175G= (p.Arg2392=) | |
| 13 | g.32355124G>T | CA387740611 | BRCA2 | c.7271G>T (p.Arg2424Met) c.6902G>T (p.Arg2301Met) n.7271G>T c.7175G>T (p.Arg2392Met) | dbSNP |
| 13 | g.32355125G>A | CA483439801 | BRCA2 | c.7272G>A (p.Arg2424=) c.6903G>A (p.Arg2301=) n.7272G>A c.7176G>A (p.Arg2392=) | ClinVar dbSNP |
| 13 | g.32355125G>C | CA387740613 | BRCA2 | c.7272G>C (p.Arg2424Ser) c.6903G>C (p.Arg2301Ser) n.7272G>C c.7176G>C (p.Arg2392Ser) | ClinVar dbSNP |
| 13 | g.32355125G= | CA2082810443 | BRCA2 | c.7272G= (p.Arg2424=) c.6903G= (p.Arg2301=) n.7272G= c.7176G= (p.Arg2392=) | |
| 13 | g.32355125G>T | CA387740616 | BRCA2 | c.7272G>T (p.Arg2424Ser) c.6903G>T (p.Arg2301Ser) n.7272G>T c.7176G>T (p.Arg2392Ser) | dbSNP |
| 13 | g.32355125_32355126delinsGA | CA2082810441 | BRCA2 | c.7272_7273delinsGA (p.Arg2424=) c.6903_6904delinsGA (p.Arg2301=) n.7272_7273delinsGA c.7176_7177delinsGA (p.Arg2392=) | |
| 13 | g.32355126A= | CA2082810454 | BRCA2 | c.7273A= (p.Asn2425=) c.6904A= (p.Asn2302=) n.7273A= c.7177A= (p.Asn2393=) | |
| 13 | g.32355126A>C | CA387740624 | BRCA2 | c.7273A>C (p.Asn2425His) c.6904A>C (p.Asn2302His) n.7273A>C c.7177A>C (p.Asn2393His) | |
| 13 | g.32355126A>G | CA10579731 | BRCA2 | c.7273A>G (p.Asn2425Asp) c.6904A>G (p.Asn2302Asp) n.7273A>G c.7177A>G (p.Asn2393Asp) | ClinVar dbSNP |
| 13 | g.32355126A>T | CA387740618 | BRCA2 | c.7273A>T (p.Asn2425Tyr) c.6904A>T (p.Asn2302Tyr) n.7273A>T c.7177A>T (p.Asn2393Tyr) | dbSNP |
| 13 | g.32355127del | CA913191193 | BRCA2 | c.7274del (p.Asn2425IlefsTer?) c.6905del (p.Asn2302IlefsTer?) n.7274del c.7178del (p.Asn2393IlefsTer?) | ClinVar dbSNP |
| 13 | g.32355127A>C | CA387740627 | BRCA2 | c.7274A>C (p.Asn2425Thr) c.6905A>C (p.Asn2302Thr) n.7274A>C c.7178A>C (p.Asn2393Thr) | dbSNP |
| 13 | g.32355127A>G | CA387740632 | BRCA2 | c.7274A>G (p.Asn2425Ser) c.6905A>G (p.Asn2302Ser) n.7274A>G c.7178A>G (p.Asn2393Ser) | |
| 13 | g.32355127A>T | CA387740633 | BRCA2 | c.7274A>T (p.Asn2425Ile) c.6905A>T (p.Asn2302Ile) n.7274A>T c.7178A>T (p.Asn2393Ile) | dbSNP |
| 13 | g.32355128T>A | CA387740634 | BRCA2 | c.7275T>A (p.Asn2425Lys) c.6906T>A (p.Asn2302Lys) n.7275T>A c.7179T>A (p.Asn2393Lys) | dbSNP |
| 13 | g.32355128T>C | CA483439802 | BRCA2 | c.7275T>C (p.Asn2425=) c.6906T>C (p.Asn2302=) n.7275T>C c.7179T>C (p.Asn2393=) | |
| 13 | g.32355128T>G | CA387740638 | BRCA2 | c.7275T>G (p.Asn2425Lys) c.6906T>G (p.Asn2302Lys) n.7275T>G c.7179T>G (p.Asn2393Lys) | dbSNP |
| 13 | g.32355129A= | CA2082810495 | BRCA2 | c.7276A= (p.Ile2426=) c.6907A= (p.Ile2303=) n.7276A= c.7180A= (p.Ile2394=) | |
| 13 | g.32355129A>C | CA387740643 | BRCA2 | c.7276A>C (p.Ile2426Leu) c.6907A>C (p.Ile2303Leu) n.7276A>C c.7180A>C (p.Ile2394Leu) | |
| 13 | g.32355129A>G | CA387740642 | BRCA2 | c.7276A>G (p.Ile2426Val) c.6907A>G (p.Ile2303Val) n.7276A>G c.7180A>G (p.Ile2394Val) | ClinVar dbSNP |
| 13 | g.32355129A>T | CA387740640 | BRCA2 | c.7276A>T (p.Ile2426Phe) c.6907A>T (p.Ile2303Phe) n.7276A>T c.7180A>T (p.Ile2394Phe) | |
| 13 | g.32355129_32355134delinsATTAAC | CA2082810503 | BRCA2 | c.7276_7281delinsATTAAC (p.Ile2426=) c.6907_6912delinsATTAAC (p.Ile2303=) n.7276_7281delinsATTAAC c.7180_7185delinsATTAAC (p.Ile2394=) | |
| 13 | g.32355129_32355136delinsATTAACTT | CA2082810492 | BRCA2 | c.7276_7283delinsATTAACTT (p.Ile2426=) c.6907_6914delinsATTAACTT (p.Ile2303=) n.7276_7283delinsATTAACTT c.7180_7187delinsATTAACTT (p.Ile2394=) | |
| 13 | g.32355130T>A | CA387740648 | BRCA2 | c.7277T>A (p.Ile2426Asn) c.6908T>A (p.Ile2303Asn) n.7277T>A c.7181T>A (p.Ile2394Asn) | dbSNP |
| 13 | g.32355130T>C | CA387740652 | BRCA2 | c.7277T>C (p.Ile2426Thr) c.6908T>C (p.Ile2303Thr) n.7277T>C c.7181T>C (p.Ile2394Thr) | ClinVar dbSNP |
| 13 | g.32355130T>G | CA387740659 | BRCA2 | c.7277T>G (p.Ile2426Ser) c.6908T>G (p.Ile2303Ser) n.7277T>G c.7181T>G (p.Ile2394Ser) | |
| 13 | g.32355130T= | CA2082810521 | BRCA2 | c.7277T= (p.Ile2426=) c.6908T= (p.Ile2303=) n.7277T= c.7181T= (p.Ile2394=) | |
| 13 | g.32355131del | CA2727917814 | BRCA2 | c.7278del (p.Asn2427ThrfsTer?) c.6909del (p.Asn2304ThrfsTer?) n.7278del c.7182del (p.Asn2395ThrfsTer?) | dbSNP |
| 13 | g.32355130_32355136del | CA10589420 | BRCA2 | c.7277_7283del (p.Ile2426ArgfsTer?) c.6908_6914del (p.Ile2303ArgfsTer?) n.7277_7283del c.7181_7187del (p.Ile2394ArgfsTer?) | ClinVar dbSNP |
| 13 | g.32355132_32355136del | CA658656417 | BRCA2 | c.7279_7283del (p.Asn2427GlyfsTer10) c.6910_6914del (p.Asn2304GlyfsTer10) n.7279_7283del c.7183_7187del (p.Asn2395GlyfsTer10) | ClinVar dbSNP |
| 13 | g.32355131T>A | CA025010 | BRCA2 | c.7278T>A (p.Ile2426=) c.6909T>A (p.Ile2303=) n.7278T>A c.7182T>A (p.Ile2394=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355131T>C | CA483439803 | BRCA2 | c.7278T>C (p.Ile2426=) c.6909T>C (p.Ile2303=) n.7278T>C c.7182T>C (p.Ile2394=) | ClinVar dbSNP |
| 13 | g.32355131T>G | CA387740678 | BRCA2 | c.7278T>G (p.Ile2426Met) c.6909T>G (p.Ile2303Met) n.7278T>G c.7182T>G (p.Ile2394Met) | |
| 13 | g.32355131T= | CA2082810526 | BRCA2 | c.7278T= (p.Ile2426=) c.6909T= (p.Ile2303=) n.7278T= c.7182T= (p.Ile2394=) | |
| 13 | g.32355132A= | CA2082810532 | BRCA2 | c.7279A= (p.Asn2427=) c.6910A= (p.Asn2304=) n.7279A= c.7183A= (p.Asn2395=) | |
| 13 | g.32355132A>C | CA387740682 | BRCA2 | c.7279A>C (p.Asn2427His) c.6910A>C (p.Asn2304His) n.7279A>C c.7183A>C (p.Asn2395His) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355132A>G | CA387740691 | BRCA2 | c.7279A>G (p.Asn2427Asp) c.6910A>G (p.Asn2304Asp) n.7279A>G c.7183A>G (p.Asn2395Asp) | ClinVar dbSNP |
| 13 | g.32355132A>T | CA387740685 | BRCA2 | c.7279A>T (p.Asn2427Tyr) c.6910A>T (p.Asn2304Tyr) n.7279A>T c.7183A>T (p.Asn2395Tyr) | dbSNP |
| 13 | g.32355133del | CA2727917846 | BRCA2 | c.7280del (p.Asn2427ThrfsTer?) c.6911del (p.Asn2304ThrfsTer?) n.7280del c.7184del (p.Asn2395ThrfsTer?) | dbSNP |
| 13 | g.32355133A>C | CA387740701 | BRCA2 | c.7280A>C (p.Asn2427Thr) c.6911A>C (p.Asn2304Thr) n.7280A>C c.7184A>C (p.Asn2395Thr) | dbSNP |
| 13 | g.32355133A>G | CA387740705 | BRCA2 | c.7280A>G (p.Asn2427Ser) c.6911A>G (p.Asn2304Ser) n.7280A>G c.7184A>G (p.Asn2395Ser) | dbSNP |
| 13 | g.32355133A>T | CA387740706 | BRCA2 | c.7280A>T (p.Asn2427Ile) c.6911A>T (p.Asn2304Ile) n.7280A>T c.7184A>T (p.Asn2395Ile) | dbSNP |
| 13 | g.32355134del | CA2695199709 | BRCA2 | c.7281del (p.Leu2428TrpfsTer?) c.6912del (p.Leu2305TrpfsTer?) n.7281del c.7185del (p.Leu2396TrpfsTer?) | ClinVar |
| 13 | g.32355134C>A | CA387740707 | BRCA2 | c.7281C>A (p.Asn2427Lys) c.6912C>A (p.Asn2304Lys) n.7281C>A c.7185C>A (p.Asn2395Lys) | dbSNP |
| 13 | g.32355134C= | CA2082810537 | BRCA2 | c.7281C= (p.Asn2427=) c.6912C= (p.Asn2304=) n.7281C= c.7185C= (p.Asn2395=) | |
| 13 | g.32355134C>G | CA387740708 | BRCA2 | c.7281C>G (p.Asn2427Lys) c.6912C>G (p.Asn2304Lys) n.7281C>G c.7185C>G (p.Asn2395Lys) | dbSNP |
| 13 | g.32355134C>T | CA483439807 | BRCA2 | c.7281C>T (p.Asn2427=) c.6912C>T (p.Asn2304=) n.7281C>T c.7185C>T (p.Asn2395=) | dbSNP |
| 13 | g.32355134_32355135delinsCT | CA2082810571 | BRCA2 | c.7281_7282delinsCT (p.Asn2427=) c.6912_6913delinsCT (p.Asn2304=) n.7281_7282delinsCT c.7185_7186delinsCT (p.Asn2395=) | |
| 13 | g.32355135T>A | CA387740709 | BRCA2 | c.7282T>A (p.Leu2428Met) c.6913T>A (p.Leu2305Met) n.7282T>A c.7186T>A (p.Leu2396Met) | dbSNP |
| 13 | g.32355135T>C | CA16606805 | BRCA2 | c.7282T>C (p.Leu2428=) c.6913T>C (p.Leu2305=) n.7282T>C c.7186T>C (p.Leu2396=) | ClinVar dbSNP |
| 13 | g.32355135T>G | CA387740711 | BRCA2 | c.7282T>G (p.Leu2428Val) c.6913T>G (p.Leu2305Val) n.7282T>G c.7186T>G (p.Leu2396Val) | ClinVar dbSNP |
| 13 | g.32355135T= | CA2082810591 | BRCA2 | c.7282T= (p.Leu2428=) c.6913T= (p.Leu2305=) n.7282T= c.7186T= (p.Leu2396=) | |
| 13 | g.32355136del | CA025012 | BRCA2 | c.7283del (p.Leu2428TrpfsTer?) c.6914del (p.Leu2305TrpfsTer?) n.7283del c.7187del (p.Leu2396TrpfsTer?) | ClinVar dbSNP |
| 13 | g.32355136T>A | CA10589421 | BRCA2 | c.7283T>A (p.Leu2428Ter) c.6914T>A (p.Leu2305Ter) n.7283T>A c.7187T>A (p.Leu2396Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32355136T>C | CA387740726 | BRCA2 | c.7283T>C (p.Leu2428Ser) c.6914T>C (p.Leu2305Ser) n.7283T>C c.7187T>C (p.Leu2396Ser) | |
| 13 | g.32355136T>G | CA387740729 | BRCA2 | c.7283T>G (p.Leu2428Trp) c.6914T>G (p.Leu2305Trp) n.7283T>G c.7187T>G (p.Leu2396Trp) | |
| 13 | g.32355136T= | CA2082810606 | BRCA2 | c.7283T= (p.Leu2428=) c.6914T= (p.Leu2305=) n.7283T= c.7187T= (p.Leu2396=) | |
| 13 | g.32355136_32355137delinsTG | CA2082810604 | BRCA2 | c.7283_7284delinsTG (p.Leu2428=) c.6914_6915delinsTG (p.Leu2305=) n.7283_7284delinsTG c.7187_7188delinsTG (p.Leu2396=) | |
| 13 | g.32355137G>A | CA483439810 | BRCA2 | c.7284G>A (p.Leu2428=) c.6915G>A (p.Leu2305=) n.7284G>A c.7188G>A (p.Leu2396=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355137G>C | CA387740732 | BRCA2 | c.7284G>C (p.Leu2428Phe) c.6915G>C (p.Leu2305Phe) n.7284G>C c.7188G>C (p.Leu2396Phe) | ClinVar dbSNP |
| 13 | g.32355137G>T | CA387740746 | BRCA2 | c.7284G>T (p.Leu2428Phe) c.6915G>T (p.Leu2305Phe) n.7284G>T c.7188G>T (p.Leu2396Phe) | ClinVar dbSNP |
| 13 | g.32355138del | CA10586571 | BRCA2 | c.7285del (p.Glu2429ArgfsTer?) c.6916del (p.Glu2306ArgfsTer?) n.7285del c.7189del (p.Glu2397ArgfsTer?) | ClinVar dbSNP |
| 13 | g.32355138G>A | CA387740748 | BRCA2 | c.7285G>A (p.Glu2429Lys) c.6916G>A (p.Glu2306Lys) n.7285G>A c.7189G>A (p.Glu2397Lys) | dbSNP |
| 13 | g.32355138G>C | CA387740747 | BRCA2 | c.7285G>C (p.Glu2429Gln) c.6916G>C (p.Glu2306Gln) n.7285G>C c.7189G>C (p.Glu2397Gln) | dbSNP |
| 13 | g.32355138G>T | CA387740753 | BRCA2 | c.7285G>T (p.Glu2429Ter) c.6916G>T (p.Glu2306Ter) n.7285G>T c.7189G>T (p.Glu2397Ter) | dbSNP |
| 13 | g.32355139A>C | CA387740760 | BRCA2 | c.7286A>C (p.Glu2429Ala) c.6917A>C (p.Glu2306Ala) n.7286A>C c.7190A>C (p.Glu2397Ala) | ClinVar |
| 13 | g.32355139A>G | CA387740762 | BRCA2 | c.7286A>G (p.Glu2429Gly) c.6917A>G (p.Glu2306Gly) n.7286A>G c.7190A>G (p.Glu2397Gly) | dbSNP |
| 13 | g.32355139A>T | CA387740769 | BRCA2 | c.7286A>T (p.Glu2429Val) c.6917A>T (p.Glu2306Val) n.7286A>T c.7190A>T (p.Glu2397Val) | dbSNP |
| 13 | g.32355140G>A | CA025013 | BRCA2 | c.7287G>A (p.Glu2429=) c.6918G>A (p.Glu2306=) n.7287G>A c.7191G>A (p.Glu2397=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355140G>C | CA387740775 | BRCA2 | c.7287G>C (p.Glu2429Asp) c.6918G>C (p.Glu2306Asp) n.7287G>C c.7191G>C (p.Glu2397Asp) | dbSNP |
| 13 | g.32355140G= | CA2082810624 | BRCA2 | c.7287G= (p.Glu2429=) c.6918G= (p.Glu2306=) n.7287G= c.7191G= (p.Glu2397=) | |
| 13 | g.32355140G>T | CA387740778 | BRCA2 | c.7287G>T (p.Glu2429Asp) c.6918G>T (p.Glu2306Asp) n.7287G>T c.7191G>T (p.Glu2397Asp) | COSMIC COSMIC |
| 13 | g.32355141G>A | CA387740781 | BRCA2 | c.7288G>A (p.Glu2430Lys) c.6919G>A (p.Glu2307Lys) n.7288G>A c.7192G>A (p.Glu2398Lys) | dbSNP |
| 13 | g.32355141G>C | CA387740784 | BRCA2 | c.7288G>C (p.Glu2430Gln) c.6919G>C (p.Glu2307Gln) n.7288G>C c.7192G>C (p.Glu2398Gln) | dbSNP |
| 13 | g.32355141G>T | CA387740786 | BRCA2 | c.7288G>T (p.Glu2430Ter) c.6919G>T (p.Glu2307Ter) n.7288G>T c.7192G>T (p.Glu2398Ter) | ClinVar |
| 13 | g.32355142A>C | CA387740787 | BRCA2 | c.7289A>C (p.Glu2430Ala) c.6920A>C (p.Glu2307Ala) n.7289A>C c.7193A>C (p.Glu2398Ala) | |
| 13 | g.32355142A>G | CA387740789 | BRCA2 | c.7289A>G (p.Glu2430Gly) c.6920A>G (p.Glu2307Gly) n.7289A>G c.7193A>G (p.Glu2398Gly) | dbSNP |
| 13 | g.32355142A>T | CA387740794 | BRCA2 | c.7289A>T (p.Glu2430Val) c.6920A>T (p.Glu2307Val) n.7289A>T c.7193A>T (p.Glu2398Val) | ClinVar dbSNP |
| 13 | g.32355145dup | CA2499222278 | BRCA2 | c.7292dup (p.Asn2431LysfsTer8) c.6923dup (p.Asn2308LysfsTer8) n.7292dup c.7196dup (p.Asn2399LysfsTer8) | ClinVar dbSNP |
| 13 | g.32355143A= | CA2082810633 | BRCA2 | c.7290A= (p.Glu2430=) c.6921A= (p.Glu2307=) n.7290A= c.7194A= (p.Glu2398=) | |
| 13 | g.32355143A>C | CA387740798 | BRCA2 | c.7290A>C (p.Glu2430Asp) c.6921A>C (p.Glu2307Asp) n.7290A>C c.7194A>C (p.Glu2398Asp) | |
| 13 | g.32355143A>G | CA483439412 | BRCA2 | c.7290A>G (p.Glu2430=) c.6921A>G (p.Glu2307=) n.7290A>G c.7194A>G (p.Glu2398=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355143A>T | CA387740800 | BRCA2 | c.7290A>T (p.Glu2430Asp) c.6921A>T (p.Glu2307Asp) n.7290A>T c.7194A>T (p.Glu2398Asp) | dbSNP |
| 13 | g.32355144A>C | CA387740805 | BRCA2 | c.7291A>C (p.Asn2431His) c.6922A>C (p.Asn2308His) n.7291A>C c.7195A>C (p.Asn2399His) | |
| 13 | g.32355144A>G | CA387740817 | BRCA2 | c.7291A>G (p.Asn2431Asp) c.6922A>G (p.Asn2308Asp) n.7291A>G c.7195A>G (p.Asn2399Asp) | |
| 13 | g.32355144A>T | CA387740818 | BRCA2 | c.7291A>T (p.Asn2431Tyr) c.6922A>T (p.Asn2308Tyr) n.7291A>T c.7195A>T (p.Asn2399Tyr) | dbSNP |
| 13 | g.32355145A= | CA2082810639 | BRCA2 | c.7292A= (p.Asn2431=) c.6923A= (p.Asn2308=) n.7292A= c.7196A= (p.Asn2399=) | |
| 13 | g.32355145A>C | CA387740822 | BRCA2 | c.7292A>C (p.Asn2431Thr) c.6923A>C (p.Asn2308Thr) n.7292A>C c.7196A>C (p.Asn2399Thr) | |
| 13 | g.32355145A>G | CA387740824 | BRCA2 | c.7292A>G (p.Asn2431Ser) c.6923A>G (p.Asn2308Ser) n.7292A>G c.7196A>G (p.Asn2399Ser) | ClinVar dbSNP |
| 13 | g.32355145A>T | CA387740827 | BRCA2 | c.7292A>T (p.Asn2431Ile) c.6923A>T (p.Asn2308Ile) n.7292A>T c.7196A>T (p.Asn2399Ile) | ClinVar dbSNP |
| 13 | g.32355148_32355151del | CA2697551761 | BRCA2 | c.7295_7298del (p.Arg2432LysfsTer?) c.6926_6929del (p.Arg2309LysfsTer?) n.7295_7298del c.7199_7202del (p.Arg2400LysfsTer?) | ClinVar |
| 13 | g.32355146C>A | CA387740830 | BRCA2 | c.7293C>A (p.Asn2431Lys) c.6924C>A (p.Asn2308Lys) n.7293C>A c.7197C>A (p.Asn2399Lys) | dbSNP |
| 13 | g.32355146C= | CA2082810642 | BRCA2 | c.7293C= (p.Asn2431=) c.6924C= (p.Asn2308=) n.7293C= c.7197C= (p.Asn2399=) | |
| 13 | g.32355146C>G | CA387740834 | BRCA2 | c.7293C>G (p.Asn2431Lys) c.6924C>G (p.Asn2308Lys) n.7293C>G c.7197C>G (p.Asn2399Lys) | dbSNP |
| 13 | g.32355146C>T | CA483439418 | BRCA2 | c.7293C>T (p.Asn2431=) c.6924C>T (p.Asn2308=) n.7293C>T c.7197C>T (p.Asn2399=) | dbSNP |
| 13 | g.32355147A= | CA2082810645 | BRCA2 | c.7294A= (p.Arg2432=) c.6925A= (p.Arg2309=) n.7294A= c.7198A= (p.Arg2400=) | |
| 13 | g.32355147A>C | CA483439420 | BRCA2 | c.7294A>C (p.Arg2432=) c.6925A>C (p.Arg2309=) n.7294A>C c.7198A>C (p.Arg2400=) | |
| 13 | g.32355147A>G | CA387740841 | BRCA2 | c.7294A>G (p.Arg2432Gly) c.6925A>G (p.Arg2309Gly) n.7294A>G c.7198A>G (p.Arg2400Gly) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355147A>T | CA387740844 | BRCA2 | c.7294A>T (p.Arg2432Ter) c.6925A>T (p.Arg2309Ter) n.7294A>T c.7198A>T (p.Arg2400Ter) | dbSNP |
| 13 | g.32355147dup | CA2580087421 | BRCA2 | c.7294dup (p.Arg2432LysfsTer7) c.6925dup (p.Arg2309LysfsTer7) n.7294dup c.7198dup (p.Arg2400LysfsTer7) | ClinVar |
| 13 | g.32355148G>A | CA387740850 | BRCA2 | c.7295G>A (p.Arg2432Lys) c.6926G>A (p.Arg2309Lys) n.7295G>A c.7199G>A (p.Arg2400Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355148G>C | CA387740851 | BRCA2 | c.7295G>C (p.Arg2432Thr) c.6926G>C (p.Arg2309Thr) n.7295G>C c.7199G>C (p.Arg2400Thr) | dbSNP |
| 13 | g.32355148G= | CA2082810646 | BRCA2 | c.7295G= (p.Arg2432=) c.6926G= (p.Arg2309=) n.7295G= c.7199G= (p.Arg2400=) | |
| 13 | g.32355148G>T | CA387740848 | BRCA2 | c.7295G>T (p.Arg2432Ile) c.6926G>T (p.Arg2309Ile) n.7295G>T c.7199G>T (p.Arg2400Ile) | dbSNP |
| 13 | g.32355149A= | CA2082810652 | BRCA2 | c.7296A= (p.Arg2432=) c.6927A= (p.Arg2309=) n.7296A= c.7200A= (p.Arg2400=) | |
| 13 | g.32355149A>C | CA387740852 | BRCA2 | c.7296A>C (p.Arg2432Ser) c.6927A>C (p.Arg2309Ser) n.7296A>C c.7200A>C (p.Arg2400Ser) | |
| 13 | g.32355149A>G | CA16606437 | BRCA2 | c.7296A>G (p.Arg2432=) c.6927A>G (p.Arg2309=) n.7296A>G c.7200A>G (p.Arg2400=) | ClinVar dbSNP |
| 13 | g.32355149A>T | CA387740853 | BRCA2 | c.7296A>T (p.Arg2432Ser) c.6927A>T (p.Arg2309Ser) n.7296A>T c.7200A>T (p.Arg2400Ser) | dbSNP |
| 13 | g.32355150C>A | CA387740856 | BRCA2 | c.7297C>A (p.Gln2433Lys) c.6928C>A (p.Gln2310Lys) n.7297C>A c.7201C>A (p.Gln2401Lys) | ClinVar dbSNP |
| 13 | g.32355150C>G | CA387740859 | BRCA2 | c.7297C>G (p.Gln2433Glu) c.6928C>G (p.Gln2310Glu) n.7297C>G c.7201C>G (p.Gln2401Glu) | |
| 13 | g.32355150C>T | CA387740866 | BRCA2 | c.7297C>T (p.Gln2433Ter) c.6928C>T (p.Gln2310Ter) n.7297C>T c.7201C>T (p.Gln2401Ter) | ClinVar |
| 13 | g.32355150_32355151delinsCA | CA2082810655 | BRCA2 | c.7297_7298delinsCA (p.Gln2433=) c.6928_6929delinsCA (p.Gln2310=) n.7297_7298delinsCA c.7201_7202delinsCA (p.Gln2401=) | |
| 13 | g.32355151A= | CA2082810668 | BRCA2 | c.7298A= (p.Gln2433=) c.6929A= (p.Gln2310=) n.7298A= c.7202A= (p.Gln2401=) | |
| 13 | g.32355151A>C | CA387740869 | BRCA2 | c.7298A>C (p.Gln2433Pro) c.6929A>C (p.Gln2310Pro) n.7298A>C c.7202A>C (p.Gln2401Pro) | |
| 13 | g.32355151A>G | CA387740871 | BRCA2 | c.7298A>G (p.Gln2433Arg) c.6929A>G (p.Gln2310Arg) n.7298A>G c.7202A>G (p.Gln2401Arg) | ClinVar dbSNP |
| 13 | g.32355151A>T | CA387740873 | BRCA2 | c.7298A>T (p.Gln2433Leu) c.6929A>T (p.Gln2310Leu) n.7298A>T c.7202A>T (p.Gln2401Leu) | dbSNP |
| 13 | g.32355154del | CA025019 | BRCA2 | c.7301del (p.Lys2434SerfsTer?) c.6932del (p.Lys2311SerfsTer?) n.7301del c.7205del (p.Lys2402SerfsTer?) | ClinVar dbSNP |
| 13 | g.32355153_32355154del | CA2580617977 | BRCA2 | c.7300_7301del (p.Lys2434AlafsTer4) c.6931_6932del (p.Lys2311AlafsTer4) n.7300_7301del c.7204_7205del (p.Lys2402AlafsTer4) | ClinVar |
| 13 | g.32355152A= | CA2082810684 | BRCA2 | c.7299A= (p.Gln2433=) c.6930A= (p.Gln2310=) n.7299A= c.7203A= (p.Gln2401=) | |
| 13 | g.32355152A>C | CA387740882 | BRCA2 | c.7299A>C (p.Gln2433His) c.6930A>C (p.Gln2310His) n.7299A>C c.7203A>C (p.Gln2401His) | |
| 13 | g.32355152A>G | CA025016 | BRCA2 | c.7299A>G (p.Gln2433=) c.6930A>G (p.Gln2310=) n.7299A>G c.7203A>G (p.Gln2401=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355152A>T | CA387740890 | BRCA2 | c.7299A>T (p.Gln2433His) c.6930A>T (p.Gln2310His) n.7299A>T c.7203A>T (p.Gln2401His) | dbSNP |