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.32356426_32356798del | CA2499222288 | BRCA2 | c.7436-2_7617+189del c.7067-2_7248+189del n.7436-2_7617+189del c.7340-2_7521+189del | ClinVar dbSNP |
| 13 | g.32356502_32356793del | CA2580087468 | BRCA2 | c.7510_7617+184del c.7141_7248+184del c.75_182+184del n.7510_7617+184del c.7414_7521+184del | ClinVar |
| 13 | g.32356529_32356539delinsGCAAAAACATC | CA2082814910 | BRCA2 | c.7537_7547delinsGCAAAAACATC (p.Ala2513=) c.7168_7178delinsGCAAAAACATC (p.Ala2390=) c.4_14delinsGCAAAAACATC (p.Ala2=) c.102_112delinsGCAAAAACATC n.7537_7547delinsGCAAAAACATC c.7441_7451delinsGCAAAAACATC (p.Ala2481=) | |
| 13 | g.32356529_32356545delinsGCAAAAACATCCACTCT | CA2082814908 | BRCA2 | c.7537_7553delinsGCAAAAACATCCACTCT (p.Ala2513=) c.7168_7184delinsGCAAAAACATCCACTCT (p.Ala2390=) c.4_20delinsGCAAAAACATCCACTCT (p.Ala2=) c.102_118delinsGCAAAAACATCCACTCT n.7537_7553delinsGCAAAAACATCCACTCT c.7441_7457delinsGCAAAAACATCCACTCT (p.Ala2481=) | |
| 13 | g.32356532_32356541del | CA915946870 | BRCA2 | c.7540_7549del (p.Lys2514LeufsTer7) c.7171_7180del (p.Lys2391LeufsTer7) c.7_16del (p.Lys3LeufsTer7) c.105_114del n.7540_7549del c.7444_7453del (p.Lys2482LeufsTer7) | ClinVar dbSNP |
| 13 | g.32356530_32356545del | CA919242758 | BRCA2 | c.7538_7553del (p.Ala2513GlyfsTer6) c.7169_7184del (p.Ala2390GlyfsTer6) c.5_20del (p.Ala2GlyfsTer6) c.103_118del n.7538_7553del c.7442_7457del (p.Ala2481GlyfsTer6) | dbSNP |
| 13 | g.32356535dup | CA025138 | BRCA2 | c.7543dup (p.Thr2515AsnfsTer24) c.7174dup (p.Thr2392AsnfsTer24) c.10dup (p.Thr4AsnfsTer24) c.108dup n.7543dup c.7447dup (p.Thr2483AsnfsTer24) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32356535del | CA025139 | BRCA2 | c.7543del (p.Thr2515HisfsTer9) c.7174del (p.Thr2392HisfsTer9) c.10del (p.Thr4HisfsTer9) c.108del n.7543del c.7447del (p.Thr2483HisfsTer9) | ClinVar dbSNP |
| 13 | g.32356534_32356541dup | CA2499222294 | BRCA2 | c.7542_7549dup (p.Thr2517LysfsTer10) c.7173_7180dup (p.Thr2394LysfsTer10) c.9_16dup (p.Thr6LysfsTer10) c.107_114dup n.7542_7549dup c.7446_7453dup (p.Thr2485LysfsTer10) | ClinVar dbSNP |
| 13 | g.32356535A= | CA2082814976 | BRCA2 | c.7543A= (p.Thr2515=) c.7174A= (p.Thr2392=) c.10A= (p.Thr4=) c.108A= n.7543A= c.7447A= (p.Thr2483=) | |
| 13 | g.32356535A>C | CA387743640 | BRCA2 | c.7543A>C (p.Thr2515Pro) c.7174A>C (p.Thr2392Pro) c.10A>C (p.Thr4Pro) c.108A>C n.7543A>C c.7447A>C (p.Thr2483Pro) | dbSNP gnomAD v2 |
| 13 | g.32356535A>G | CA387743642 | BRCA2 | c.7543A>G (p.Thr2515Ala) c.7174A>G (p.Thr2392Ala) c.10A>G (p.Thr4Ala) c.108A>G n.7543A>G c.7447A>G (p.Thr2483Ala) | |
| 13 | g.32356535A>T | CA387743645 | BRCA2 | c.7543A>T (p.Thr2515Ser) c.7174A>T (p.Thr2392Ser) c.10A>T (p.Thr4Ser) c.108A>T n.7543A>T c.7447A>T (p.Thr2483Ser) | ClinVar dbSNP |
| 13 | g.32356535_32356536delinsAC | CA2082814971 | BRCA2 | c.7543_7544delinsAC (p.Thr2515=) c.7174_7175delinsAC (p.Thr2392=) c.10_11delinsAC (p.Thr4=) c.108_109delinsAC n.7543_7544delinsAC c.7447_7448delinsAC (p.Thr2483=) | |
| 13 | g.32356536del | CA025141 | BRCA2 | c.7544del (p.Thr2515AsnfsTer9) c.7175del (p.Thr2392AsnfsTer9) c.11del (p.Thr4AsnfsTer9) c.109del n.7544del c.7448del (p.Thr2483AsnfsTer9) | ClinVar dbSNP |
| 13 | g.32356536C>A | CA387743648 | BRCA2 | c.7544C>A (p.Thr2515Lys) c.7175C>A (p.Thr2392Lys) c.11C>A (p.Thr4Lys) c.109C>A n.7544C>A c.7448C>A (p.Thr2483Lys) | dbSNP |
| 13 | g.32356536C= | CA2082814987 | BRCA2 | c.7544C= (p.Thr2515=) c.7175C= (p.Thr2392=) c.11C= (p.Thr4=) c.109C= n.7544C= c.7448C= (p.Thr2483=) | |
| 13 | g.32356536C>G | CA387743658 | BRCA2 | c.7544C>G (p.Thr2515Arg) c.7175C>G (p.Thr2392Arg) c.11C>G (p.Thr4Arg) c.109C>G n.7544C>G c.7448C>G (p.Thr2483Arg) | dbSNP |
| 13 | g.32356536C>T | CA025140 | BRCA2 | c.7544C>T (p.Thr2515Ile) c.7175C>T (p.Thr2392Ile) c.11C>T (p.Thr4Ile) c.109C>T n.7544C>T c.7448C>T (p.Thr2483Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.32356537A= | CA2082814995 | BRCA2 | c.7545A= (p.Thr2515=) c.7176A= (p.Thr2392=) c.12A= (p.Thr4=) c.110A= n.7545A= c.7449A= (p.Thr2483=) | |
| 13 | g.32356537A>C | CA483260405 | BRCA2 | c.7545A>C (p.Thr2515=) c.7176A>C (p.Thr2392=) c.12A>C (p.Thr4=) c.110A>C n.7545A>C c.7449A>C (p.Thr2483=) | dbSNP |
| 13 | g.32356537A>G | CA6941106 | BRCA2 | c.7545A>G (p.Thr2515=) c.7176A>G (p.Thr2392=) c.12A>G (p.Thr4=) c.110A>G n.7545A>G c.7449A>G (p.Thr2483=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32356537A>T | CA483260406 | BRCA2 | c.7545A>T (p.Thr2515=) c.7176A>T (p.Thr2392=) c.12A>T (p.Thr4=) c.110A>T n.7545A>T c.7449A>T (p.Thr2483=) | ClinVar dbSNP |
| 13 | g.32356538T>A | CA387743663 | BRCA2 | c.7546T>A (p.Ser2516Thr) c.7177T>A (p.Ser2393Thr) c.13T>A (p.Ser5Thr) c.111T>A n.7546T>A c.7450T>A (p.Ser2484Thr) | |
| 13 | g.32356538T>C | CA387743665 | BRCA2 | c.7546T>C (p.Ser2516Pro) c.7177T>C (p.Ser2393Pro) c.13T>C (p.Ser5Pro) c.111T>C n.7546T>C c.7450T>C (p.Ser2484Pro) | ClinVar dbSNP |
| 13 | g.32356538T>G | CA387743667 | BRCA2 | c.7546T>G (p.Ser2516Ala) c.7177T>G (p.Ser2393Ala) c.13T>G (p.Ser5Ala) c.111T>G n.7546T>G c.7450T>G (p.Ser2484Ala) | dbSNP |
| 13 | g.32356538T= | CA2082815004 | BRCA2 | c.7546T= (p.Ser2516=) c.7177T= (p.Ser2393=) c.13T= (p.Ser5=) c.111T= n.7546T= c.7450T= (p.Ser2484=) | |
| 13 | g.32356539C>A | CA387743670 | BRCA2 | c.7547C>A (p.Ser2516Tyr) c.7178C>A (p.Ser2393Tyr) c.14C>A (p.Ser5Tyr) c.112C>A n.7547C>A c.7451C>A (p.Ser2484Tyr) | dbSNP |
| 13 | g.32356539C= | CA2082815019 | BRCA2 | c.7547C= (p.Ser2516=) c.7178C= (p.Ser2393=) c.14C= (p.Ser5=) c.112C= n.7547C= c.7451C= (p.Ser2484=) | |
| 13 | g.32356539C>G | CA10577492 | BRCA2 | c.7547C>G (p.Ser2516Cys) c.7178C>G (p.Ser2393Cys) c.14C>G (p.Ser5Cys) c.112C>G n.7547C>G c.7451C>G (p.Ser2484Cys) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356539C>T | CA6941107 | BRCA2 | c.7547C>T (p.Ser2516Phe) c.7178C>T (p.Ser2393Phe) c.14C>T (p.Ser5Phe) c.112C>T n.7547C>T c.7451C>T (p.Ser2484Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356540del | CA2580087479 | BRCA2 | c.7548del (p.Thr2517LeufsTer7) c.7179del (p.Thr2394LeufsTer7) c.15del (p.Thr6LeufsTer7) c.113del n.7548del c.7452del (p.Thr2485LeufsTer7) | ClinVar |
| 13 | g.32356539_32356541delinsCCA | CA2082815016 | BRCA2 | c.7547_7549delinsCCA (p.Ser2516=) c.7178_7180delinsCCA (p.Ser2393=) c.14_16delinsCCA (p.Ser5=) c.112_114delinsCCA n.7547_7549delinsCCA c.7451_7453delinsCCA (p.Ser2484=) | |
| 13 | g.32356539_32356540insACCAAACACACCCAACA | CA2798719183 | BRCA2 | c.7547_7548insACCAAACACACCCAACA (p.Thr2517ProfsTer13) c.7178_7179insACCAAACACACCCAACA (p.Thr2394ProfsTer13) c.14_15insACCAAACACACCCAACA (p.Thr6ProfsTer13) c.112_113insACCAAACACACCCAACA n.7547_7548insACCAAACACACCCAACA c.7451_7452insACCAAACACACCCAACA (p.Thr2485ProfsTer13) | |
| 13 | g.32356540C>A | CA483260407 | BRCA2 | c.7548C>A (p.Ser2516=) c.7179C>A (p.Ser2393=) c.15C>A (p.Ser5=) c.113C>A n.7548C>A c.7452C>A (p.Ser2484=) | |
| 13 | g.32356540C>G | CA483260408 | BRCA2 | c.7548C>G (p.Ser2516=) c.7179C>G (p.Ser2393=) c.15C>G (p.Ser5=) c.113C>G n.7548C>G c.7452C>G (p.Ser2484=) | dbSNP |
| 13 | g.32356540C>T | CA483260409 | BRCA2 | c.7548C>T (p.Ser2516=) c.7179C>T (p.Ser2393=) c.15C>T (p.Ser5=) c.113C>T n.7548C>T c.7452C>T (p.Ser2484=) | dbSNP gnomAD v4 |
| 13 | g.32356541_32356542del | CA10586579 | BRCA2 | c.7549_7550del (p.Thr2517SerfsTer21) c.7180_7181del (p.Thr2394SerfsTer21) c.16_17del (p.Thr6SerfsTer21) c.114_115del n.7549_7550del c.7453_7454del (p.Thr2485SerfsTer21) | ClinVar dbSNP |
| 13 | g.32356541A= | CA2082815029 | BRCA2 | c.7549A= (p.Thr2517=) c.7180A= (p.Thr2394=) c.16A= (p.Thr6=) c.114A= n.7549A= c.7453A= (p.Thr2485=) | |
| 13 | g.32356541A>C | CA387743677 | BRCA2 | c.7549A>C (p.Thr2517Pro) c.7180A>C (p.Thr2394Pro) c.16A>C (p.Thr6Pro) c.114A>C n.7549A>C c.7453A>C (p.Thr2485Pro) | gnomAD v4 |
| 13 | g.32356541A>G | CA387743679 | BRCA2 | c.7549A>G (p.Thr2517Ala) c.7180A>G (p.Thr2394Ala) c.16A>G (p.Thr6Ala) c.114A>G n.7549A>G c.7453A>G (p.Thr2485Ala) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356541A>T | CA387743681 | BRCA2 | c.7549A>T (p.Thr2517Ser) c.7180A>T (p.Thr2394Ser) c.16A>T (p.Thr6Ser) c.114A>T n.7549A>T c.7453A>T (p.Thr2485Ser) | dbSNP |
| 13 | g.32356542C>A | CA387743684 | BRCA2 | c.7550C>A (p.Thr2517Asn) c.7181C>A (p.Thr2394Asn) c.17C>A (p.Thr6Asn) c.115C>A n.7550C>A c.7454C>A (p.Thr2485Asn) | dbSNP |
| 13 | g.32356542C= | CA2082815039 | BRCA2 | c.7550C= (p.Thr2517=) c.7181C= (p.Thr2394=) c.17C= (p.Thr6=) c.115C= n.7550C= c.7454C= (p.Thr2485=) | |
| 13 | g.32356542C>G | CA387743689 | BRCA2 | c.7550C>G (p.Thr2517Ser) c.7181C>G (p.Thr2394Ser) c.17C>G (p.Thr6Ser) c.115C>G n.7550C>G c.7454C>G (p.Thr2485Ser) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356542C>T | CA387743686 | BRCA2 | c.7550C>T (p.Thr2517Ile) c.7181C>T (p.Thr2394Ile) c.17C>T (p.Thr6Ile) c.115C>T n.7550C>T c.7454C>T (p.Thr2485Ile) | ClinVar dbSNP |
| 13 | g.32356543T>A | CA483260410 | BRCA2 | c.7551T>A (p.Thr2517=) c.7182T>A (p.Thr2394=) c.18T>A (p.Thr6=) c.116T>A n.7551T>A c.7455T>A (p.Thr2485=) | dbSNP |
| 13 | g.32356543T>C | CA483260411 | BRCA2 | c.7551T>C (p.Thr2517=) c.7182T>C (p.Thr2394=) c.18T>C (p.Thr6=) c.116T>C n.7551T>C c.7455T>C (p.Thr2485=) | ClinVar dbSNP |
| 13 | g.32356543T>G | CA483260412 | BRCA2 | c.7551T>G (p.Thr2517=) c.7182T>G (p.Thr2394=) c.18T>G (p.Thr6=) c.116T>G n.7551T>G c.7455T>G (p.Thr2485=) | |
| 13 | g.32356543T= | CA2082815050 | BRCA2 | c.7551T= (p.Thr2517=) c.7182T= (p.Thr2394=) c.18T= (p.Thr6=) c.116T= n.7551T= c.7455T= (p.Thr2485=) | |
| 13 | g.32356543dup | CA919242763 | BRCA2 | c.7551dup (p.Leu2518SerfsTer21) c.7182dup (p.Leu2395SerfsTer21) c.18dup (p.Leu7SerfsTer21) c.116dup n.7551dup c.7455dup (p.Leu2486SerfsTer21) | dbSNP |
| 13 | g.32356544C>A | CA387743691 | BRCA2 | c.7552C>A (p.Leu2518Met) c.7183C>A (p.Leu2395Met) c.19C>A (p.Leu7Met) c.117C>A n.7552C>A c.7456C>A (p.Leu2486Met) | dbSNP |
| 13 | g.32356544C= | CA2082815059 | BRCA2 | c.7552C= (p.Leu2518=) c.7183C= (p.Leu2395=) c.19C= (p.Leu7=) c.117C= n.7552C= c.7456C= (p.Leu2486=) | |
| 13 | g.32356544C>G | CA387743693 | BRCA2 | c.7552C>G (p.Leu2518Val) c.7183C>G (p.Leu2395Val) c.19C>G (p.Leu7Val) c.117C>G n.7552C>G c.7456C>G (p.Leu2486Val) | ClinVar dbSNP |
| 13 | g.32356544C>T | CA483260413 | BRCA2 | c.7552C>T (p.Leu2518=) c.7183C>T (p.Leu2395=) c.19C>T (p.Leu7=) c.117C>T n.7552C>T c.7456C>T (p.Leu2486=) | ClinVar dbSNP |
| 13 | g.32356545T>A | CA387743695 | BRCA2 | c.7553T>A (p.Leu2518Gln) c.7184T>A (p.Leu2395Gln) c.20T>A (p.Leu7Gln) c.118T>A n.7553T>A c.7457T>A (p.Leu2486Gln) | |
| 13 | g.32356545T>C | CA387743698 | BRCA2 | c.7553T>C (p.Leu2518Pro) c.7184T>C (p.Leu2395Pro) c.20T>C (p.Leu7Pro) c.118T>C n.7553T>C c.7457T>C (p.Leu2486Pro) | |
| 13 | g.32356545T>G | CA387743700 | BRCA2 | c.7553T>G (p.Leu2518Arg) c.7184T>G (p.Leu2395Arg) c.20T>G (p.Leu7Arg) c.118T>G n.7553T>G c.7457T>G (p.Leu2486Arg) | ClinVar dbSNP |
| 13 | g.32356545T= | CA2082815094 | BRCA2 | c.7553T= (p.Leu2518=) c.7184T= (p.Leu2395=) c.20T= (p.Leu7=) c.118T= n.7553T= c.7457T= (p.Leu2486=) | |
| 13 | g.32356545dup | CA2499222295 | BRCA2 | c.7553dup (p.Pro2519AlafsTer20) c.7184dup (p.Pro2396AlafsTer20) c.20dup (p.Pro8AlafsTer20) c.118dup n.7553dup c.7457dup (p.Pro2487AlafsTer20) | |
| 13 | g.32356546G>A | CA483260416 | BRCA2 | c.7554G>A (p.Leu2518=) c.7185G>A (p.Leu2395=) c.21G>A (p.Leu7=) c.119G>A n.7554G>A c.7458G>A (p.Leu2486=) | ClinVar dbSNP |
| 13 | g.32356546G>C | CA483260415 | BRCA2 | c.7554G>C (p.Leu2518=) c.7185G>C (p.Leu2395=) c.21G>C (p.Leu7=) c.119G>C n.7554G>C c.7458G>C (p.Leu2486=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356546G= | CA2082815098 | BRCA2 | c.7554G= (p.Leu2518=) c.7185G= (p.Leu2395=) c.21G= (p.Leu7=) c.119G= n.7554G= c.7458G= (p.Leu2486=) | |
| 13 | g.32356546G>T | CA483260414 | BRCA2 | c.7554G>T (p.Leu2518=) c.7185G>T (p.Leu2395=) c.21G>T (p.Leu7=) c.119G>T n.7554G>T c.7458G>T (p.Leu2486=) | dbSNP |
| 13 | g.32356547C>A | CA387743707 | BRCA2 | c.7555C>A (p.Pro2519Thr) c.7186C>A (p.Pro2396Thr) c.22C>A (p.Pro8Thr) c.120C>A n.7555C>A c.7459C>A (p.Pro2487Thr) | dbSNP |
| 13 | g.32356547C>G | CA387743704 | BRCA2 | c.7555C>G (p.Pro2519Ala) c.7186C>G (p.Pro2396Ala) c.22C>G (p.Pro8Ala) c.120C>G n.7555C>G c.7459C>G (p.Pro2487Ala) | dbSNP |
| 13 | g.32356547C>T | CA387743703 | BRCA2 | c.7555C>T (p.Pro2519Ser) c.7186C>T (p.Pro2396Ser) c.22C>T (p.Pro8Ser) c.120C>T n.7555C>T c.7459C>T (p.Pro2487Ser) | dbSNP |
| 13 | g.32356548dup | CA025143 | BRCA2 | c.7556dup (p.Arg2520SerfsTer19) c.7187dup (p.Arg2397SerfsTer19) c.23dup (p.Arg9SerfsTer19) c.121dup n.7556dup c.7460dup (p.Arg2488SerfsTer19) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356548C>A | CA387743711 | BRCA2 | c.7556C>A (p.Pro2519His) c.7187C>A (p.Pro2396His) c.23C>A (p.Pro8His) c.121C>A n.7556C>A c.7460C>A (p.Pro2487His) | |
| 13 | g.32356548C= | CA2082815111 | BRCA2 | c.7556C= (p.Pro2519=) c.7187C= (p.Pro2396=) c.23C= (p.Pro8=) c.121C= n.7556C= c.7460C= (p.Pro2487=) | |
| 13 | g.32356548C>G | CA387743713 | BRCA2 | c.7556C>G (p.Pro2519Arg) c.7187C>G (p.Pro2396Arg) c.23C>G (p.Pro8Arg) c.121C>G n.7556C>G c.7460C>G (p.Pro2487Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356548C>T | CA6941108 | BRCA2 | c.7556C>T (p.Pro2519Leu) c.7187C>T (p.Pro2396Leu) c.23C>T (p.Pro8Leu) c.121C>T n.7556C>T c.7460C>T (p.Pro2487Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32356549T>A | CA483260417 | BRCA2 | c.7557T>A (p.Pro2519=) c.7188T>A (p.Pro2396=) c.24T>A (p.Pro8=) c.122T>A n.7557T>A c.7461T>A (p.Pro2487=) | dbSNP |
| 13 | g.32356549T>C | CA483260418 | BRCA2 | c.7557T>C (p.Pro2519=) c.7188T>C (p.Pro2396=) c.24T>C (p.Pro8=) c.122T>C n.7557T>C c.7461T>C (p.Pro2487=) | ClinVar dbSNP |
| 13 | g.32356549T>G | CA483260419 | BRCA2 | c.7557T>G (p.Pro2519=) c.7188T>G (p.Pro2396=) c.24T>G (p.Pro8=) c.122T>G n.7557T>G c.7461T>G (p.Pro2487=) | |
| 13 | g.32356549T= | CA2082815122 | BRCA2 | c.7557T= (p.Pro2519=) c.7188T= (p.Pro2396=) c.24T= (p.Pro8=) c.122T= n.7557T= c.7461T= (p.Pro2487=) | |
| 13 | g.32356549_32356550delinsTC | CA2082815119 | BRCA2 | c.7557_7558delinsTC (p.Pro2519=) c.7188_7189delinsTC (p.Pro2396=) c.24_25delinsTC (p.Pro8=) c.122_123delinsTC n.7557_7558delinsTC c.7461_7462delinsTC (p.Pro2487=) | |
| 13 | g.32356550del | CA10589437 | BRCA2 | c.7558del (p.Arg2520GlufsTer4) c.7189del (p.Arg2397GlufsTer4) c.25del (p.Arg9GlufsTer4) c.123del n.7558del c.7462del (p.Arg2488GlufsTer4) | ClinVar dbSNP |
| 13 | g.32356550C>A | CA483260420 | BRCA2 | c.7558C>A (p.Arg2520=) c.7189C>A (p.Arg2397=) c.25C>A (p.Arg9=) c.123C>A n.7558C>A c.7462C>A (p.Arg2488=) | dbSNP |
| 13 | g.32356550C= | CA2082815143 | BRCA2 | c.7558C= (p.Arg2520=) c.7189C= (p.Arg2397=) c.25C= (p.Arg9=) c.123C= n.7558C= c.7462C= (p.Arg2488=) | |
| 13 | g.32356550C>G | CA387743717 | BRCA2 | c.7558C>G (p.Arg2520Gly) c.7189C>G (p.Arg2397Gly) c.25C>G (p.Arg9Gly) c.123C>G n.7558C>G c.7462C>G (p.Arg2488Gly) | ClinVar dbSNP |
| 13 | g.32356550C>T | CA025146 | BRCA2 | c.7558C>T (p.Arg2520Ter) c.7189C>T (p.Arg2397Ter) c.25C>T (p.Arg9Ter) c.123C>T n.7558C>T c.7462C>T (p.Arg2488Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356551G>A | CA025147 | BRCA2 | c.7559G>A (p.Arg2520Gln) c.7190G>A (p.Arg2397Gln) c.26G>A (p.Arg9Gln) c.124G>A n.7559G>A c.7463G>A (p.Arg2488Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32356551G>C | CA025148 | BRCA2 | c.7559G>C (p.Arg2520Pro) c.7190G>C (p.Arg2397Pro) c.26G>C (p.Arg9Pro) c.124G>C n.7559G>C c.7463G>C (p.Arg2488Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32356551G= | CA2082815157 | BRCA2 | c.7559G= (p.Arg2520=) c.7190G= (p.Arg2397=) c.26G= (p.Arg9=) c.124G= n.7559G= c.7463G= (p.Arg2488=) | |
| 13 | g.32356551G>T | CA025149 | BRCA2 | c.7559G>T (p.Arg2520Leu) c.7190G>T (p.Arg2397Leu) c.26G>T (p.Arg9Leu) c.124G>T n.7559G>T c.7463G>T (p.Arg2488Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32356551_32356552delinsGA | CA2082815167 | BRCA2 | c.7559_7560delinsGA (p.Arg2520=) c.7190_7191delinsGA (p.Arg2397=) c.26_27delinsGA (p.Arg9=) c.124_125delinsGA n.7559_7560delinsGA c.7463_7464delinsGA (p.Arg2488=) | |
| 13 | g.32356552A= | CA2082815178 | BRCA2 | c.7560A= (p.Arg2520=) c.7191A= (p.Arg2397=) c.27A= (p.Arg9=) c.125A= n.7560A= c.7464A= (p.Arg2488=) | |
| 13 | g.32356552A>C | CA483260422 | BRCA2 | c.7560A>C (p.Arg2520=) c.7191A>C (p.Arg2397=) c.27A>C (p.Arg9=) c.125A>C n.7560A>C c.7464A>C (p.Arg2488=) | ClinVar |
| 13 | g.32356552A>G | CA483260423 | BRCA2 | c.7560A>G (p.Arg2520=) c.7191A>G (p.Arg2397=) c.27A>G (p.Arg9=) c.125A>G n.7560A>G c.7464A>G (p.Arg2488=) | |
| 13 | g.32356552A>T | CA483260424 | BRCA2 | c.7560A>T (p.Arg2520=) c.7191A>T (p.Arg2397=) c.27A>T (p.Arg9=) c.125A>T n.7560A>T c.7464A>T (p.Arg2488=) | ClinVar dbSNP |
| 13 | g.32356553del | CA10589438 | BRCA2 | c.7561del (p.Ile2521SerfsTer3) c.7192del (p.Ile2398SerfsTer3) c.28del (p.Ile10SerfsTer3) c.126del n.7561del c.7465del (p.Ile2489SerfsTer3) | ClinVar dbSNP |
| 13 | g.32356553A= | CA2082815194 | BRCA2 | c.7561A= (p.Ile2521=) c.7192A= (p.Ile2398=) c.28A= (p.Ile10=) c.126A= n.7561A= c.7465A= (p.Ile2489=) | |
| 13 | g.32356553A>C | CA387743728 | BRCA2 | c.7561A>C (p.Ile2521Leu) c.7192A>C (p.Ile2398Leu) c.28A>C (p.Ile10Leu) c.126A>C n.7561A>C c.7465A>C (p.Ile2489Leu) | ClinVar dbSNP |
| 13 | g.32356553A>G | CA025151 | BRCA2 | c.7561A>G (p.Ile2521Val) c.7192A>G (p.Ile2398Val) c.28A>G (p.Ile10Val) c.126A>G n.7561A>G c.7465A>G (p.Ile2489Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356553A>T | CA387743735 | BRCA2 | c.7561A>T (p.Ile2521Phe) c.7192A>T (p.Ile2398Phe) c.28A>T (p.Ile10Phe) c.126A>T n.7561A>T c.7465A>T (p.Ile2489Phe) | dbSNP |
| 13 | g.32356553_32356557delinsATCTC | CA2082815189 | BRCA2 | c.7561_7565delinsATCTC (p.Ile2521=) c.7192_7196delinsATCTC (p.Ile2398=) c.28_32delinsATCTC (p.Ile10=) c.126_130delinsATCTC n.7561_7565delinsATCTC c.7465_7469delinsATCTC (p.Ile2489=) | |
| 13 | g.32356554T>A | CA387743739 | BRCA2 | c.7562T>A (p.Ile2521Asn) c.7193T>A (p.Ile2398Asn) c.29T>A (p.Ile10Asn) c.127T>A n.7562T>A c.7466T>A (p.Ile2489Asn) | dbSNP |
| 13 | g.32356554T>C | CA025152 | BRCA2 | c.7562T>C (p.Ile2521Thr) c.7193T>C (p.Ile2398Thr) c.29T>C (p.Ile10Thr) c.127T>C n.7562T>C c.7466T>C (p.Ile2489Thr) | ClinVar dbSNP |
| 13 | g.32356554T>G | CA387743743 | BRCA2 | c.7562T>G (p.Ile2521Ser) c.7193T>G (p.Ile2398Ser) c.29T>G (p.Ile10Ser) c.127T>G n.7562T>G c.7466T>G (p.Ile2489Ser) | |
| 13 | g.32356554T= | CA2082815212 | BRCA2 | c.7562T= (p.Ile2521=) c.7193T= (p.Ile2398=) c.29T= (p.Ile10=) c.127T= n.7562T= c.7466T= (p.Ile2489=) | |
| 13 | g.32356559_32356560del | CA025157 | BRCA2 | c.7567_7568del (p.Leu2523GlufsTer15) c.7198_7199del (p.Leu2400GlufsTer15) c.34_35del (p.Leu12GlufsTer15) c.132_133del n.7567_7568del c.7471_7472del (p.Leu2491GlufsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356557_32356560del | CA10589439 | BRCA2 | c.7565_7568del (p.Ser2522Ter) c.7196_7199del (p.Ser2399Ter) c.32_35del (p.Ser11Ter) c.130_133del n.7565_7568del c.7469_7472del (p.Ser2490Ter) | ClinVar dbSNP |
| 13 | g.32356555del | CA2573149394 | BRCA2 | c.7563del (p.Ser2522LeufsTer2) c.7194del (p.Ser2399LeufsTer2) c.30del (p.Ser11LeufsTer2) c.128del n.7563del c.7467del (p.Ser2490LeufsTer2) | ClinVar dbSNP |
| 13 | g.32356555C>A | CA025153 | BRCA2 | c.7563C>A (p.Ile2521=) c.7194C>A (p.Ile2398=) c.30C>A (p.Ile10=) c.128C>A n.7563C>A c.7467C>A (p.Ile2489=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356555C= | CA2082815225 | BRCA2 | c.7563C= (p.Ile2521=) c.7194C= (p.Ile2398=) c.30C= (p.Ile10=) c.128C= n.7563C= c.7467C= (p.Ile2489=) | |
| 13 | g.32356555C>G | CA387743749 | BRCA2 | c.7563C>G (p.Ile2521Met) c.7194C>G (p.Ile2398Met) c.30C>G (p.Ile10Met) c.128C>G n.7563C>G c.7467C>G (p.Ile2489Met) | ClinVar dbSNP |
| 13 | g.32356555C>T | CA483260425 | BRCA2 | c.7563C>T (p.Ile2521=) c.7194C>T (p.Ile2398=) c.30C>T (p.Ile10=) c.128C>T n.7563C>T c.7467C>T (p.Ile2489=) | dbSNP |
| 13 | g.32356556T>A | CA387743752 | BRCA2 | c.7564T>A (p.Ser2522Thr) c.7195T>A (p.Ser2399Thr) c.31T>A (p.Ser11Thr) c.129T>A n.7564T>A c.7468T>A (p.Ser2490Thr) | dbSNP |
| 13 | g.32356556T>C | CA387743753 | BRCA2 | c.7564T>C (p.Ser2522Pro) c.7195T>C (p.Ser2399Pro) c.31T>C (p.Ser11Pro) c.129T>C n.7564T>C c.7468T>C (p.Ser2490Pro) | dbSNP |
| 13 | g.32356556T>G | CA387743755 | BRCA2 | c.7564T>G (p.Ser2522Ala) c.7195T>G (p.Ser2399Ala) c.31T>G (p.Ser11Ala) c.129T>G n.7564T>G c.7468T>G (p.Ser2490Ala) | |
| 13 | g.32356557C>A | CA387743761 | BRCA2 | c.7565C>A (p.Ser2522Tyr) c.7196C>A (p.Ser2399Tyr) c.32C>A (p.Ser11Tyr) c.130C>A n.7565C>A c.7469C>A (p.Ser2490Tyr) | |
| 13 | g.32356557C= | CA2082815237 | BRCA2 | c.7565C= (p.Ser2522=) c.7196C= (p.Ser2399=) c.32C= (p.Ser11=) c.130C= n.7565C= c.7469C= (p.Ser2490=) | |
| 13 | g.32356557C>G | CA387743759 | BRCA2 | c.7565C>G (p.Ser2522Cys) c.7196C>G (p.Ser2399Cys) c.32C>G (p.Ser11Cys) c.130C>G n.7565C>G c.7469C>G (p.Ser2490Cys) | |
| 13 | g.32356557C>T | CA025154 | BRCA2 | c.7565C>T (p.Ser2522Phe) c.7196C>T (p.Ser2399Phe) c.32C>T (p.Ser11Phe) c.130C>T n.7565C>T c.7469C>T (p.Ser2490Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32356557_32356559delinsTTT | CA2825002141 | BRCA2 | c.7565_7567delinsTTT (p.Ser2522Phe) c.7196_7198delinsTTT (p.Ser2399Phe) c.32_34delinsTTT (p.Ser11Phe) c.130_132delinsTTT n.7565_7567delinsTTT c.7469_7471delinsTTT (p.Ser2490Phe) | ClinVar |
| 13 | g.32356558T>A | CA483260426 | BRCA2 | c.7566T>A (p.Ser2522=) c.7197T>A (p.Ser2399=) c.33T>A (p.Ser11=) c.131T>A n.7566T>A c.7470T>A (p.Ser2490=) | dbSNP |
| 13 | g.32356558T>C | CA483260427 | BRCA2 | c.7566T>C (p.Ser2522=) c.7197T>C (p.Ser2399=) c.33T>C (p.Ser11=) c.131T>C n.7566T>C c.7470T>C (p.Ser2490=) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32356558T>G | CA483260428 | BRCA2 | c.7566T>G (p.Ser2522=) c.7197T>G (p.Ser2399=) c.33T>G (p.Ser11=) c.131T>G n.7566T>G c.7470T>G (p.Ser2490=) | ClinVar |
| 13 | g.32356559C>A | CA387743767 | BRCA2 | c.7567C>A (p.Leu2523Met) c.7198C>A (p.Leu2400Met) c.34C>A (p.Leu12Met) c.132C>A n.7567C>A c.7471C>A (p.Leu2491Met) | |
| 13 | g.32356559C= | CA2082815244 | BRCA2 | c.7567C= (p.Leu2523=) c.7198C= (p.Leu2400=) c.34C= (p.Leu12=) c.132C= n.7567C= c.7471C= (p.Leu2491=) | |
| 13 | g.32356559C>G | CA387743765 | BRCA2 | c.7567C>G (p.Leu2523Val) c.7198C>G (p.Leu2400Val) c.34C>G (p.Leu12Val) c.132C>G n.7567C>G c.7471C>G (p.Leu2491Val) | dbSNP |
| 13 | g.32356559C>T | CA483260429 | BRCA2 | c.7567C>T (p.Leu2523=) c.7198C>T (p.Leu2400=) c.34C>T (p.Leu12=) c.132C>T n.7567C>T c.7471C>T (p.Leu2491=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356560T>A | CA387743769 | BRCA2 | c.7568T>A (p.Leu2523Gln) c.7199T>A (p.Leu2400Gln) c.35T>A (p.Leu12Gln) c.133T>A n.7568T>A c.7472T>A (p.Leu2491Gln) | dbSNP |
| 13 | g.32356560T>C | CA16619765 | BRCA2 | c.7568T>C (p.Leu2523Pro) c.7199T>C (p.Leu2400Pro) c.35T>C (p.Leu12Pro) c.133T>C n.7568T>C c.7472T>C (p.Leu2491Pro) | ClinVar dbSNP |
| 13 | g.32356560T>G | CA387743772 | BRCA2 | c.7568T>G (p.Leu2523Arg) c.7199T>G (p.Leu2400Arg) c.35T>G (p.Leu12Arg) c.133T>G n.7568T>G c.7472T>G (p.Leu2491Arg) | |
| 13 | g.32356560T= | CA2082815254 | BRCA2 | c.7568T= (p.Leu2523=) c.7199T= (p.Leu2400=) c.35T= (p.Leu12=) c.133T= n.7568T= c.7472T= (p.Leu2491=) | |
| 13 | g.32356560dup | CA913189209 | BRCA2 | c.7568dup (p.Lys2524GlufsTer15) c.7199dup (p.Lys2401GlufsTer15) c.35dup (p.Lys13GlufsTer15) c.133dup n.7568dup c.7472dup (p.Lys2492GlufsTer15) | ClinVar dbSNP |
| 13 | g.32356561G>A | CA025158 | BRCA2 | c.7569G>A (p.Leu2523=) c.7200G>A (p.Leu2400=) c.36G>A (p.Leu12=) c.134G>A n.7569G>A c.7473G>A (p.Leu2491=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356561G>C | CA483260430 | BRCA2 | c.7569G>C (p.Leu2523=) c.7200G>C (p.Leu2400=) c.36G>C (p.Leu12=) c.134G>C n.7569G>C c.7473G>C (p.Leu2491=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356561G= | CA2082815264 | BRCA2 | c.7569G= (p.Leu2523=) c.7200G= (p.Leu2400=) c.36G= (p.Leu12=) c.134G= n.7569G= c.7473G= (p.Leu2491=) | |
| 13 | g.32356561G>T | CA483260431 | BRCA2 | c.7569G>T (p.Leu2523=) c.7200G>T (p.Leu2400=) c.36G>T (p.Leu12=) c.134G>T n.7569G>T c.7473G>T (p.Leu2491=) | |
| 13 | g.32356562A= | CA2082815277 | BRCA2 | c.7570A= (p.Lys2524=) c.7201A= (p.Lys2401=) c.37A= (p.Lys13=) c.135A= n.7570A= c.7474A= (p.Lys2492=) | |
| 13 | g.32356562A>C | CA387743781 | BRCA2 | c.7570A>C (p.Lys2524Gln) c.7201A>C (p.Lys2401Gln) c.37A>C (p.Lys13Gln) c.135A>C n.7570A>C c.7474A>C (p.Lys2492Gln) | |
| 13 | g.32356562A>G | CA387743776 | BRCA2 | c.7570A>G (p.Lys2524Glu) c.7201A>G (p.Lys2401Glu) c.37A>G (p.Lys13Glu) c.135A>G n.7570A>G c.7474A>G (p.Lys2492Glu) | ClinVar dbSNP |
| 13 | g.32356562A>T | CA387743779 | BRCA2 | c.7570A>T (p.Lys2524Ter) c.7201A>T (p.Lys2401Ter) c.37A>T (p.Lys13Ter) c.135A>T n.7570A>T c.7474A>T (p.Lys2492Ter) | ClinVar dbSNP |
| 13 | g.32356564dup | CA915946871 | BRCA2 | c.7572dup (p.Ala2525SerfsTer14) c.7203dup (p.Ala2402SerfsTer14) c.39dup (p.Ala14SerfsTer14) c.137dup n.7572dup c.7476dup (p.Ala2493SerfsTer14) | ClinVar dbSNP |
| 13 | g.32356563A>C | CA387743783 | BRCA2 | c.7571A>C (p.Lys2524Thr) c.7202A>C (p.Lys2401Thr) c.38A>C (p.Lys13Thr) c.136A>C n.7571A>C c.7475A>C (p.Lys2492Thr) | |
| 13 | g.32356563A>G | CA387743784 | BRCA2 | c.7571A>G (p.Lys2524Arg) c.7202A>G (p.Lys2401Arg) c.38A>G (p.Lys13Arg) c.136A>G n.7571A>G c.7475A>G (p.Lys2492Arg) | COSMIC COSMIC |
| 13 | g.32356563A>T | CA387743787 | BRCA2 | c.7571A>T (p.Lys2524Ile) c.7202A>T (p.Lys2401Ile) c.38A>T (p.Lys13Ile) c.136A>T n.7571A>T c.7475A>T (p.Lys2492Ile) | dbSNP |
| 13 | g.32356564A>C | CA387743790 | BRCA2 | c.7572A>C (p.Lys2524Asn) c.7203A>C (p.Lys2401Asn) c.39A>C (p.Lys13Asn) c.137A>C n.7572A>C c.7476A>C (p.Lys2492Asn) | |
| 13 | g.32356564A>G | CA483260432 | BRCA2 | c.7572A>G (p.Lys2524=) c.7203A>G (p.Lys2401=) c.39A>G (p.Lys13=) c.137A>G n.7572A>G c.7476A>G (p.Lys2492=) | |
| 13 | g.32356564A>T | CA387743792 | BRCA2 | c.7572A>T (p.Lys2524Asn) c.7203A>T (p.Lys2401Asn) c.39A>T (p.Lys13Asn) c.137A>T n.7572A>T c.7476A>T (p.Lys2492Asn) | ClinVar dbSNP |
| 13 | g.32356565G>A | CA025160 | BRCA2 | c.7573G>A (p.Ala2525Thr) c.7204G>A (p.Ala2402Thr) c.40G>A (p.Ala14Thr) c.138G>A n.7573G>A c.7477G>A (p.Ala2493Thr) | ClinVar dbSNP |
| 13 | g.32356565G>C | CA387743799 | BRCA2 | c.7573G>C (p.Ala2525Pro) c.7204G>C (p.Ala2402Pro) c.40G>C (p.Ala14Pro) c.138G>C n.7573G>C c.7477G>C (p.Ala2493Pro) | ClinVar dbSNP |
| 13 | g.32356565G= | CA2082815291 | BRCA2 | c.7573G= (p.Ala2525=) c.7204G= (p.Ala2402=) c.40G= (p.Ala14=) c.138G= n.7573G= c.7477G= (p.Ala2493=) | |
| 13 | g.32356565G>T | CA387743796 | BRCA2 | c.7573G>T (p.Ala2525Ser) c.7204G>T (p.Ala2402Ser) c.40G>T (p.Ala14Ser) c.138G>T n.7573G>T c.7477G>T (p.Ala2493Ser) | |
| 13 | g.32356565_32356566del | CA2499222296 | BRCA2 | c.7573_7574del (p.Ala2525SerfsTer13) c.7204_7205del (p.Ala2402SerfsTer13) c.40_41del (p.Ala14SerfsTer13) c.138_139del n.7573_7574del c.7477_7478del (p.Ala2493SerfsTer13) | |
| 13 | g.32356566C>A | CA387743801 | BRCA2 | c.7574C>A (p.Ala2525Glu) c.7205C>A (p.Ala2402Glu) c.41C>A (p.Ala14Glu) c.139C>A n.7574C>A c.7478C>A (p.Ala2493Glu) | |
| 13 | g.32356566C>G | CA387743802 | BRCA2 | c.7574C>G (p.Ala2525Gly) c.7205C>G (p.Ala2402Gly) c.41C>G (p.Ala14Gly) c.139C>G n.7574C>G c.7478C>G (p.Ala2493Gly) | |
| 13 | g.32356566C>T | CA387743804 | BRCA2 | c.7574C>T (p.Ala2525Val) c.7205C>T (p.Ala2402Val) c.41C>T (p.Ala14Val) c.139C>T n.7574C>T c.7478C>T (p.Ala2493Val) | |
| 13 | g.32356566_32356567delinsCA | CA2082815294 | BRCA2 | c.7574_7575delinsCA (p.Ala2525=) c.7205_7206delinsCA (p.Ala2402=) c.41_42delinsCA (p.Ala14=) c.139_140delinsCA n.7574_7575delinsCA c.7478_7479delinsCA (p.Ala2493=) | |
| 13 | g.32356567del | CA10576071 | BRCA2 | c.7575del (p.Ala2526GlnfsTer2) c.7206del (p.Ala2403GlnfsTer2) c.42del (p.Ala15GlnfsTer2) c.140del n.7575del c.7479del (p.Ala2494GlnfsTer2) | ClinVar dbSNP |
| 13 | g.32356567A>C | CA483260435 | BRCA2 | c.7575A>C (p.Ala2525=) c.7206A>C (p.Ala2402=) c.42A>C (p.Ala14=) c.140A>C n.7575A>C c.7479A>C (p.Ala2493=) | |
| 13 | g.32356567A>G | CA483260434 | BRCA2 | c.7575A>G (p.Ala2525=) c.7206A>G (p.Ala2402=) c.42A>G (p.Ala14=) c.140A>G n.7575A>G c.7479A>G (p.Ala2493=) | |
| 13 | g.32356567A>T | CA483260433 | BRCA2 | c.7575A>T (p.Ala2525=) c.7206A>T (p.Ala2402=) c.42A>T (p.Ala14=) c.140A>T n.7575A>T c.7479A>T (p.Ala2493=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356568G>A | CA387743810 | BRCA2 | c.7576G>A (p.Ala2526Thr) c.7207G>A (p.Ala2403Thr) c.43G>A (p.Ala15Thr) c.141G>A n.7576G>A c.7480G>A (p.Ala2494Thr) | ClinVar dbSNP |
| 13 | g.32356568G>C | CA387743812 | BRCA2 | c.7576G>C (p.Ala2526Pro) c.7207G>C (p.Ala2403Pro) c.43G>C (p.Ala15Pro) c.141G>C n.7576G>C c.7480G>C (p.Ala2494Pro) | dbSNP |
| 13 | g.32356568G= | CA2082815304 | BRCA2 | c.7576G= (p.Ala2526=) c.7207G= (p.Ala2403=) c.43G= (p.Ala15=) c.141G= n.7576G= c.7480G= (p.Ala2494=) | |
| 13 | g.32356568G>T | CA387743814 | BRCA2 | c.7576G>T (p.Ala2526Ser) c.7207G>T (p.Ala2403Ser) c.43G>T (p.Ala15Ser) c.141G>T n.7576G>T c.7480G>T (p.Ala2494Ser) | |
| 13 | g.32356569C>A | CA387743815 | BRCA2 | c.7577C>A (p.Ala2526Glu) c.7208C>A (p.Ala2403Glu) c.44C>A (p.Ala15Glu) c.142C>A n.7577C>A c.7481C>A (p.Ala2494Glu) | dbSNP |
| 13 | g.32356569C= | CA2082815312 | BRCA2 | c.7577C= (p.Ala2526=) c.7208C= (p.Ala2403=) c.44C= (p.Ala15=) c.142C= n.7577C= c.7481C= (p.Ala2494=) | |
| 13 | g.32356569C>G | CA387743818 | BRCA2 | c.7577C>G (p.Ala2526Gly) c.7208C>G (p.Ala2403Gly) c.44C>G (p.Ala15Gly) c.142C>G n.7577C>G c.7481C>G (p.Ala2494Gly) | ClinVar dbSNP |
| 13 | g.32356569C>T | CA387743820 | BRCA2 | c.7577C>T (p.Ala2526Val) c.7208C>T (p.Ala2403Val) c.44C>T (p.Ala15Val) c.142C>T n.7577C>T c.7481C>T (p.Ala2494Val) | ClinVar dbSNP |
| 13 | g.32356569_32356571delinsCAG | CA2082815314 | BRCA2 | c.7577_7579delinsCAG (p.Ala2526=) c.7208_7210delinsCAG (p.Ala2403=) c.44_46delinsCAG (p.Ala15=) c.142_144delinsCAG n.7577_7579delinsCAG c.7481_7483delinsCAG (p.Ala2494=) | |
| 13 | g.32356569_32356572del | CA2622571688 | BRCA2 | c.7577_7580del (p.Ala2526GlufsTer24) c.7208_7211del (p.Ala2403GlufsTer24) c.44_47del (p.Ala15GlufsTer24) c.142_145del n.7577_7580del c.7481_7484del (p.Ala2494GlufsTer24) | ClinVar gnomAD v4 |
| 13 | g.32356569_32356575delinsAGGA | CA2695217911 | BRCA2 | c.7577_7583delinsAGGA (p.Ala2526_Gly2528delinsGluGlu) c.7208_7214delinsAGGA (p.Ala2403_Gly2405delinsGluGlu) c.44_50delinsAGGA (p.Ala15_Gly17delinsGluGlu) c.142_148delinsAGGA n.7577_7583delinsAGGA c.7481_7487delinsAGGA (p.Ala2494_Gly2496delinsGluGlu) | |
| 13 | g.32356570A= | CA2082815321 | BRCA2 | c.7578A= (p.Ala2526=) c.7209A= (p.Ala2403=) c.45A= (p.Ala15=) c.143A= n.7578A= c.7482A= (p.Ala2494=) | |
| 13 | g.32356570A>C | CA483260438 | BRCA2 | c.7578A>C (p.Ala2526=) c.7209A>C (p.Ala2403=) c.45A>C (p.Ala15=) c.143A>C n.7578A>C c.7482A>C (p.Ala2494=) | |
| 13 | g.32356570A>G | CA483260437 | BRCA2 | c.7578A>G (p.Ala2526=) c.7209A>G (p.Ala2403=) c.45A>G (p.Ala15=) c.143A>G n.7578A>G c.7482A>G (p.Ala2494=) | ClinVar gnomAD v4 |
| 13 | g.32356570A>T | CA483260436 | BRCA2 | c.7578A>T (p.Ala2526=) c.7209A>T (p.Ala2403=) c.45A>T (p.Ala15=) c.143A>T n.7578A>T c.7482A>T (p.Ala2494=) | |
| 13 | g.32356570_32356571del | CA1139663193 | BRCA2 | c.7578_7579del (p.Val2527ArgfsTer11) c.7209_7210del (p.Val2404ArgfsTer11) c.45_46del (p.Val16ArgfsTer11) c.143_144del n.7578_7579del c.7482_7483del (p.Val2495ArgfsTer11) | ClinVar dbSNP |
| 13 | g.32356570_32356571delinsAG | CA2082815318 | BRCA2 | c.7578_7579delinsAG (p.Ala2526=) c.7209_7210delinsAG (p.Ala2403=) c.45_46delinsAG (p.Ala15=) c.143_144delinsAG n.7578_7579delinsAG c.7482_7483delinsAG (p.Ala2494=) | |
| 13 | g.32356572_32356574del | CA2573149395 | BRCA2 | c.7580_7582del (p.Val2527del) c.7211_7213del (p.Val2404del) c.47_49del (p.Val16del) c.145_147del n.7580_7582del c.7484_7486del (p.Val2495del) | ClinVar dbSNP |
| 13 | g.32356571del | CA658683852 | BRCA2 | c.7579del (p.Val2527Ter) c.7210del (p.Val2404Ter) c.46del (p.Val16Ter) c.144del n.7579del c.7483del (p.Val2495Ter) | ClinVar dbSNP |
| 13 | g.32356571G>A | CA387743822 | BRCA2 | c.7579G>A (p.Val2527Ile) c.7210G>A (p.Val2404Ile) c.46G>A (p.Val16Ile) c.144G>A n.7579G>A c.7483G>A (p.Val2495Ile) | ClinVar dbSNP |
| 13 | g.32356571G>C | CA387743827 | BRCA2 | c.7579G>C (p.Val2527Leu) c.7210G>C (p.Val2404Leu) c.46G>C (p.Val16Leu) c.144G>C n.7579G>C c.7483G>C (p.Val2495Leu) | dbSNP |
| 13 | g.32356571G= | CA2082815340 | BRCA2 | c.7579G= (p.Val2527=) c.7210G= (p.Val2404=) c.46G= (p.Val16=) c.144G= n.7579G= c.7483G= (p.Val2495=) | |
| 13 | g.32356571G>T | CA387743824 | BRCA2 | c.7579G>T (p.Val2527Leu) c.7210G>T (p.Val2404Leu) c.46G>T (p.Val16Leu) c.144G>T n.7579G>T c.7483G>T (p.Val2495Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356572_32356575dup | CA658656436 | BRCA2 | c.7580_7583dup (p.Gly2529ArgfsTer11) c.7211_7214dup (p.Gly2406ArgfsTer11) c.47_50dup (p.Gly18ArgfsTer11) c.145_148dup n.7580_7583dup c.7484_7487dup (p.Gly2497ArgfsTer11) | ClinVar dbSNP |
| 13 | g.32356572T>A | CA387743828 | BRCA2 | c.7580T>A (p.Val2527Glu) c.7211T>A (p.Val2404Glu) c.47T>A (p.Val16Glu) c.145T>A n.7580T>A c.7484T>A (p.Val2495Glu) | dbSNP |
| 13 | g.32356572T>C | CA025161 | BRCA2 | c.7580T>C (p.Val2527Ala) c.7211T>C (p.Val2404Ala) c.47T>C (p.Val16Ala) c.145T>C n.7580T>C c.7484T>C (p.Val2495Ala) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356572T>G | CA387743833 | BRCA2 | c.7580T>G (p.Val2527Gly) c.7211T>G (p.Val2404Gly) c.47T>G (p.Val16Gly) c.145T>G n.7580T>G c.7484T>G (p.Val2495Gly) | |
| 13 | g.32356572T= | CA2082815355 | BRCA2 | c.7580T= (p.Val2527=) c.7211T= (p.Val2404=) c.47T= (p.Val16=) c.145T= n.7580T= c.7484T= (p.Val2495=) | |
| 13 | g.32356572dup | CA645372940 | BRCA2 | c.7580dup (p.Gly2528ArgfsTer11) c.7211dup (p.Gly2405ArgfsTer11) c.47dup (p.Gly17ArgfsTer11) c.145dup n.7580dup c.7484dup (p.Gly2496ArgfsTer11) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356573A= | CA2082815365 | BRCA2 | c.7581A= (p.Val2527=) c.7212A= (p.Val2404=) c.48A= (p.Val16=) c.146A= n.7581A= c.7485A= (p.Val2495=) | |
| 13 | g.32356573A>C | CA483260441 | BRCA2 | c.7581A>C (p.Val2527=) c.7212A>C (p.Val2404=) c.48A>C (p.Val16=) c.146A>C n.7581A>C c.7485A>C (p.Val2495=) | |
| 13 | g.32356573A>G | CA483260440 | BRCA2 | c.7581A>G (p.Val2527=) c.7212A>G (p.Val2404=) c.48A>G (p.Val16=) c.146A>G n.7581A>G c.7485A>G (p.Val2495=) | ClinVar dbSNP gnomAD v2 |
| 13 | g.32356573A>T | CA483260439 | BRCA2 | c.7581A>T (p.Val2527=) c.7212A>T (p.Val2404=) c.48A>T (p.Val16=) c.146A>T n.7581A>T c.7485A>T (p.Val2495=) | |
| 13 | g.32356576_32356578del | CA2573130315 | BRCA2 | c.7584_7586del (p.Gly2529del) c.7215_7217del (p.Gly2406del) c.51_53del (p.Gly18del) c.149_151del n.7584_7586del c.7488_7490del (p.Gly2497del) | ClinVar dbSNP |
| 13 | g.32356574G>A | CA387743837 | BRCA2 | c.7582G>A (p.Gly2528Arg) c.7213G>A (p.Gly2405Arg) c.49G>A (p.Gly17Arg) c.147G>A n.7582G>A c.7486G>A (p.Gly2496Arg) | ClinVar dbSNP |
| 13 | g.32356574G>C | CA387743839 | BRCA2 | c.7582G>C (p.Gly2528Arg) c.7213G>C (p.Gly2405Arg) c.49G>C (p.Gly17Arg) c.147G>C n.7582G>C c.7486G>C (p.Gly2496Arg) | dbSNP |
| 13 | g.32356574G= | CA2082815368 | BRCA2 | c.7582G= (p.Gly2528=) c.7213G= (p.Gly2405=) c.49G= (p.Gly17=) c.147G= n.7582G= c.7486G= (p.Gly2496=) | |
| 13 | g.32356574G>T | CA387743842 | BRCA2 | c.7582G>T (p.Gly2528Ter) c.7213G>T (p.Gly2405Ter) c.49G>T (p.Gly17Ter) c.147G>T n.7582G>T c.7486G>T (p.Gly2496Ter) | |
| 13 | g.32356574_32356575insA | CA2622571701 | BRCA2 | c.7582_7583insA (p.Gly2528GlufsTer11) c.7213_7214insA (p.Gly2405GlufsTer11) c.49_50insA (p.Gly17GlufsTer11) c.147_148insA n.7582_7583insA c.7486_7487insA (p.Gly2496GlufsTer11) | ClinVar gnomAD v4 |
| 13 | g.32356575G>A | CA025162 | BRCA2 | c.7583G>A (p.Gly2528Glu) c.7214G>A (p.Gly2405Glu) c.50G>A (p.Gly17Glu) c.148G>A n.7583G>A c.7487G>A (p.Gly2496Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356575G>C | CA387743846 | BRCA2 | c.7583G>C (p.Gly2528Ala) c.7214G>C (p.Gly2405Ala) c.50G>C (p.Gly17Ala) c.148G>C n.7583G>C c.7487G>C (p.Gly2496Ala) | dbSNP |
| 13 | g.32356575G= | CA2082815372 | BRCA2 | c.7583G= (p.Gly2528=) c.7214G= (p.Gly2405=) c.50G= (p.Gly17=) c.148G= n.7583G= c.7487G= (p.Gly2496=) | |
| 13 | g.32356575G>T | CA387743848 | BRCA2 | c.7583G>T (p.Gly2528Val) c.7214G>T (p.Gly2405Val) c.50G>T (p.Gly17Val) c.148G>T n.7583G>T c.7487G>T (p.Gly2496Val) | |
| 13 | g.32356576A>C | CA483260444 | BRCA2 | c.7584A>C (p.Gly2528=) c.7215A>C (p.Gly2405=) c.51A>C (p.Gly17=) c.149A>C n.7584A>C c.7488A>C (p.Gly2496=) | |
| 13 | g.32356576A>G | CA483260442 | BRCA2 | c.7584A>G (p.Gly2528=) c.7215A>G (p.Gly2405=) c.51A>G (p.Gly17=) c.149A>G n.7584A>G c.7488A>G (p.Gly2496=) | |
| 13 | g.32356576A>T | CA483260443 | BRCA2 | c.7584A>T (p.Gly2528=) c.7215A>T (p.Gly2405=) c.51A>T (p.Gly17=) c.149A>T n.7584A>T c.7488A>T (p.Gly2496=) | dbSNP |
| 13 | g.32356576_32356577delinsAG | CA2082815376 | BRCA2 | c.7584_7585delinsAG (p.Gly2528=) c.7215_7216delinsAG (p.Gly2405=) c.51_52delinsAG (p.Gly17=) c.149_150delinsAG n.7584_7585delinsAG c.7488_7489delinsAG (p.Gly2496=) | |
| 13 | g.32356577G>A | CA025163 | BRCA2 | c.7585G>A (p.Gly2529Ser) c.7216G>A (p.Gly2406Ser) c.52G>A (p.Gly18Ser) c.150G>A n.7585G>A c.7489G>A (p.Gly2497Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356577G>C | CA387743854 | BRCA2 | c.7585G>C (p.Gly2529Arg) c.7216G>C (p.Gly2406Arg) c.52G>C (p.Gly18Arg) c.150G>C n.7585G>C c.7489G>C (p.Gly2497Arg) | ClinVar dbSNP |
| 13 | g.32356577G= | CA2082815382 | BRCA2 | c.7585G= (p.Gly2529=) c.7216G= (p.Gly2406=) c.52G= (p.Gly18=) c.150G= n.7585G= c.7489G= (p.Gly2497=) | |
| 13 | g.32356577G>T | CA387743857 | BRCA2 | c.7585G>T (p.Gly2529Cys) c.7216G>T (p.Gly2406Cys) c.52G>T (p.Gly18Cys) c.150G>T n.7585G>T c.7489G>T (p.Gly2497Cys) | dbSNP |
| 13 | g.32356578del | CA1139663194 | BRCA2 | c.7586del (p.Gly2529AlafsTer22) c.7217del (p.Gly2406AlafsTer22) c.53del (p.Gly18AlafsTer22) c.151del n.7586del c.7490del (p.Gly2497AlafsTer22) | ClinVar dbSNP |
| 13 | g.32356578G>A | CA387743860 | BRCA2 | c.7586G>A (p.Gly2529Asp) c.7217G>A (p.Gly2406Asp) c.53G>A (p.Gly18Asp) c.151G>A n.7586G>A c.7490G>A (p.Gly2497Asp) | |
| 13 | g.32356578G>C | CA387743863 | BRCA2 | c.7586G>C (p.Gly2529Ala) c.7217G>C (p.Gly2406Ala) c.53G>C (p.Gly18Ala) c.151G>C n.7586G>C c.7490G>C (p.Gly2497Ala) | |
| 13 | g.32356578G>T | CA387743862 | BRCA2 | c.7586G>T (p.Gly2529Val) c.7217G>T (p.Gly2406Val) c.53G>T (p.Gly18Val) c.151G>T n.7586G>T c.7490G>T (p.Gly2497Val) | |
| 13 | g.32356578_32356579delinsGC | CA2082815387 | BRCA2 | c.7586_7587delinsGC (p.Gly2529=) c.7217_7218delinsGC (p.Gly2406=) c.53_54delinsGC (p.Gly18=) c.151_152delinsGC n.7586_7587delinsGC c.7490_7491delinsGC (p.Gly2497=) | |
| 13 | g.32356579C>A | CA483260447 | BRCA2 | c.7587C>A (p.Gly2529=) c.7218C>A (p.Gly2406=) c.54C>A (p.Gly18=) c.152C>A n.7587C>A c.7491C>A (p.Gly2497=) | dbSNP |
| 13 | g.32356579C>G | CA483260448 | BRCA2 | c.7587C>G (p.Gly2529=) c.7218C>G (p.Gly2406=) c.54C>G (p.Gly18=) c.152C>G n.7587C>G c.7491C>G (p.Gly2497=) | dbSNP |
| 13 | g.32356579C>T | CA483260449 | BRCA2 | c.7587C>T (p.Gly2529=) c.7218C>T (p.Gly2406=) c.54C>T (p.Gly18=) c.152C>T n.7587C>T c.7491C>T (p.Gly2497=) | ClinVar dbSNP |
| 13 | g.32356580del | CA025164 | BRCA2 | c.7588del (p.Gln2530LysfsTer21) c.7219del (p.Gln2407LysfsTer21) c.55del (p.Gln19LysfsTer21) c.153del n.7588del c.7492del (p.Gln2498LysfsTer21) | ClinVar dbSNP |
| 13 | g.32356580C>A | CA387743867 | BRCA2 | c.7588C>A (p.Gln2530Lys) c.7219C>A (p.Gln2407Lys) c.55C>A (p.Gln19Lys) c.153C>A n.7588C>A c.7492C>A (p.Gln2498Lys) | |
| 13 | g.32356580C>G | CA387743870 | BRCA2 | c.7588C>G (p.Gln2530Glu) c.7219C>G (p.Gln2407Glu) c.55C>G (p.Gln19Glu) c.153C>G n.7588C>G c.7492C>G (p.Gln2498Glu) | |
| 13 | g.32356580C>T | CA387743872 | BRCA2 | c.7588C>T (p.Gln2530Ter) c.7219C>T (p.Gln2407Ter) c.55C>T (p.Gln19Ter) c.153C>T n.7588C>T c.7492C>T (p.Gln2498Ter) | ClinVar gnomAD v4 |
| 13 | g.32356581A= | CA2082815395 | BRCA2 | c.7589A= (p.Gln2530=) c.7220A= (p.Gln2407=) c.56A= (p.Gln19=) c.154A= n.7589A= c.7493A= (p.Gln2498=) | |
| 13 | g.32356581A>C | CA387743874 | BRCA2 | c.7589A>C (p.Gln2530Pro) c.7220A>C (p.Gln2407Pro) c.56A>C (p.Gln19Pro) c.154A>C n.7589A>C c.7493A>C (p.Gln2498Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32356581A>G | CA387743876 | BRCA2 | c.7589A>G (p.Gln2530Arg) c.7220A>G (p.Gln2407Arg) c.56A>G (p.Gln19Arg) c.154A>G n.7589A>G c.7493A>G (p.Gln2498Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32356581A>T | CA387743878 | BRCA2 | c.7589A>T (p.Gln2530Leu) c.7220A>T (p.Gln2407Leu) c.56A>T (p.Gln19Leu) c.154A>T n.7589A>T c.7493A>T (p.Gln2498Leu) | |
| 13 | g.32356582A= | CA2082815408 | BRCA2 | c.7590A= (p.Gln2530=) c.7221A= (p.Gln2407=) c.57A= (p.Gln19=) c.155A= n.7590A= c.7494A= (p.Gln2498=) | |
| 13 | g.32356582A>C | CA025165 | BRCA2 | c.7590A>C (p.Gln2530His) c.7221A>C (p.Gln2407His) c.57A>C (p.Gln19His) c.155A>C n.7590A>C c.7494A>C (p.Gln2498His) | ClinVar dbSNP |
| 13 | g.32356582A>G | CA483260450 | BRCA2 | c.7590A>G (p.Gln2530=) c.7221A>G (p.Gln2407=) c.57A>G (p.Gln19=) c.155A>G n.7590A>G c.7494A>G (p.Gln2498=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356582A>T | CA387743883 | BRCA2 | c.7590A>T (p.Gln2530His) c.7221A>T (p.Gln2407His) c.57A>T (p.Gln19His) c.155A>T n.7590A>T c.7494A>T (p.Gln2498His) | ClinVar dbSNP |
| 13 | g.32356583G>A | CA387743888 | BRCA2 | c.7591G>A (p.Val2531Ile) c.7222G>A (p.Val2408Ile) c.58G>A (p.Val20Ile) c.156G>A n.7591G>A c.7495G>A (p.Val2499Ile) | ClinVar dbSNP |
| 13 | g.32356583G>C | CA387743891 | BRCA2 | c.7591G>C (p.Val2531Leu) c.7222G>C (p.Val2408Leu) c.58G>C (p.Val20Leu) c.156G>C n.7591G>C c.7495G>C (p.Val2499Leu) | dbSNP |
| 13 | g.32356583G>T | CA387743886 | BRCA2 | c.7591G>T (p.Val2531Phe) c.7222G>T (p.Val2408Phe) c.58G>T (p.Val20Phe) c.156G>T n.7591G>T c.7495G>T (p.Val2499Phe) | |
| 13 | g.32356583_32356584delinsGT | CA2082815416 | BRCA2 | c.7591_7592delinsGT (p.Val2531=) c.7222_7223delinsGT (p.Val2408=) c.58_59delinsGT (p.Val20=) c.156_157delinsGT n.7591_7592delinsGT c.7495_7496delinsGT (p.Val2499=) | |
| 13 | g.32356583_32356587delinsGTTCC | CA2082815418 | BRCA2 | c.7591_7595delinsGTTCC (p.Val2531=) c.7222_7226delinsGTTCC (p.Val2408=) c.58_62delinsGTTCC (p.Val20=) c.156_160delinsGTTCC n.7591_7595delinsGTTCC c.7495_7499delinsGTTCC (p.Val2499=) | |
| 13 | g.32356584T>A | CA387743899 | BRCA2 | c.7592T>A (p.Val2531Asp) c.7223T>A (p.Val2408Asp) c.59T>A (p.Val20Asp) c.157T>A n.7592T>A c.7496T>A (p.Val2499Asp) | dbSNP |
| 13 | g.32356584T>C | CA387743892 | BRCA2 | c.7592T>C (p.Val2531Ala) c.7223T>C (p.Val2408Ala) c.59T>C (p.Val20Ala) c.157T>C n.7592T>C c.7496T>C (p.Val2499Ala) | |
| 13 | g.32356584T>G | CA387743895 | BRCA2 | c.7592T>G (p.Val2531Gly) c.7223T>G (p.Val2408Gly) c.59T>G (p.Val20Gly) c.157T>G n.7592T>G c.7496T>G (p.Val2499Gly) | |
| 13 | g.32356585del | CA025166 | BRCA2 | c.7593del (p.Ser2533LeufsTer18) c.7224del (p.Ser2410LeufsTer18) c.60del (p.Ser22LeufsTer18) c.158del n.7593del c.7497del (p.Ser2501LeufsTer18) | ClinVar dbSNP |
| 13 | g.32356584_32356587delinsCAGTAGGAGG | CA915946872 | BRCA2 | c.7592_7595delinsCAGTAGGAGG (p.Val2531_Pro2532delinsAlaValGlyGly) c.7223_7226delinsCAGTAGGAGG (p.Val2408_Pro2409delinsAlaValGlyGly) c.59_62delinsCAGTAGGAGG (p.Val20_Pro21delinsAlaValGlyGly) c.157_160delinsCAGTAGGAGG n.7592_7595delinsCAGTAGGAGG c.7496_7499delinsCAGTAGGAGG (p.Val2499_Pro2500delinsAlaValGlyGly) | ClinVar dbSNP |
| 13 | g.32356585T>A | CA483260452 | BRCA2 | c.7593T>A (p.Val2531=) c.7224T>A (p.Val2408=) c.60T>A (p.Val20=) c.158T>A n.7593T>A c.7497T>A (p.Val2499=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356585T>C | CA247470129 | BRCA2 | c.7593T>C (p.Val2531=) c.7224T>C (p.Val2408=) c.60T>C (p.Val20=) c.158T>C n.7593T>C c.7497T>C (p.Val2499=) | dbSNP |
| 13 | g.32356585T>G | CA483260453 | BRCA2 | c.7593T>G (p.Val2531=) c.7224T>G (p.Val2408=) c.60T>G (p.Val20=) c.158T>G n.7593T>G c.7497T>G (p.Val2499=) | |
| 13 | g.32356585T= | CA2018069962 | BRCA2 | c.7593T= (p.Val2531=) c.7224T= (p.Val2408=) c.60T= (p.Val20=) c.158T= n.7593T= c.7497T= (p.Val2499=) | |
| 13 | g.32356586C>A | CA387743902 | BRCA2 | c.7594C>A (p.Pro2532Thr) c.7225C>A (p.Pro2409Thr) c.61C>A (p.Pro21Thr) c.159C>A n.7594C>A c.7498C>A (p.Pro2500Thr) | ClinVar dbSNP |
| 13 | g.32356586C= | CA2082815439 | BRCA2 | c.7594C= (p.Pro2532=) c.7225C= (p.Pro2409=) c.61C= (p.Pro21=) c.159C= n.7594C= c.7498C= (p.Pro2500=) | |
| 13 | g.32356586C>G | CA387743906 | BRCA2 | c.7594C>G (p.Pro2532Ala) c.7225C>G (p.Pro2409Ala) c.61C>G (p.Pro21Ala) c.159C>G n.7594C>G c.7498C>G (p.Pro2500Ala) | ClinVar dbSNP |
| 13 | g.32356586C>T | CA025167 | BRCA2 | c.7594C>T (p.Pro2532Ser) c.7225C>T (p.Pro2409Ser) c.61C>T (p.Pro21Ser) c.159C>T n.7594C>T c.7498C>T (p.Pro2500Ser) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356586_32356600delinsCCCTCTGCGTGTTCT | CA2082815459 | BRCA2 | c.7594_7608delinsCCCTCTGCGTGTTCT (p.Pro2532=) c.7225_7239delinsCCCTCTGCGTGTTCT (p.Pro2409=) c.61_75delinsCCCTCTGCGTGTTCT (p.Pro21=) c.159_173delinsCCCTCTGCGTGTTCT n.7594_7608delinsCCCTCTGCGTGTTCT c.7498_7512delinsCCCTCTGCGTGTTCT (p.Pro2500=) | |
| 13 | g.32356586_32356587insTT | CA658823748 | BRCA2 | c.7594_7595insTT (p.Pro2532LeufsTer20) c.7225_7226insTT (p.Pro2409LeufsTer20) c.61_62insTT (p.Pro21LeufsTer20) c.159_160insTT n.7594_7595insTT c.7498_7499insTT (p.Pro2500LeufsTer20) | ClinVar dbSNP |
| 13 | g.32356587C>A | CA247470136 | BRCA2 | c.7595C>A (p.Pro2532His) c.7226C>A (p.Pro2409His) c.62C>A (p.Pro21His) c.160C>A n.7595C>A c.7499C>A (p.Pro2500His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32356587C= | CA2082815481 | BRCA2 | c.7595C= (p.Pro2532=) c.7226C= (p.Pro2409=) c.62C= (p.Pro21=) c.160C= n.7595C= c.7499C= (p.Pro2500=) | |
| 13 | g.32356587C>G | CA387743927 | BRCA2 | c.7595C>G (p.Pro2532Arg) c.7226C>G (p.Pro2409Arg) c.62C>G (p.Pro21Arg) c.160C>G n.7595C>G c.7499C>G (p.Pro2500Arg) | dbSNP |
| 13 | g.32356587C>T | CA387743924 | BRCA2 | c.7595C>T (p.Pro2532Leu) c.7226C>T (p.Pro2409Leu) c.62C>T (p.Pro21Leu) c.160C>T n.7595C>T c.7499C>T (p.Pro2500Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32356588_32356601del | CA025169 | BRCA2 | c.7596_7609del (p.Ser2533Ter) c.7227_7240del (p.Ser2410Ter) c.63_76del (p.Ser22Ter) c.161_174del n.7596_7609del c.7500_7513del (p.Ser2501Ter) | ClinVar dbSNP |
| 13 | g.32356587_32356588insTT | CA025168 | BRCA2 | c.7595_7596insTT (p.Ala2534LeufsTer18) c.7226_7227insTT (p.Ala2411LeufsTer18) c.62_63insTT (p.Ala23LeufsTer18) c.160_161insTT n.7595_7596insTT c.7499_7500insTT (p.Ala2502LeufsTer18) | ClinVar dbSNP |
| 13 | g.32356587_32356588insAGTAGGAGG | CA2573149397 | BRCA2 | c.7595_7596insAGTAGGAGG (p.Pro2532_Ser2533insValGlyGly) c.7226_7227insAGTAGGAGG (p.Pro2409_Ser2410insValGlyGly) c.62_63insAGTAGGAGG (p.Pro21_Ser22insValGlyGly) c.160_161insAGTAGGAGG n.7595_7596insAGTAGGAGG c.7499_7500insAGTAGGAGG (p.Pro2500_Ser2501insValGlyGly) | dbSNP |
| 13 | g.32356588C>A | CA483260454 | BRCA2 | c.7596C>A (p.Pro2532=) c.7227C>A (p.Pro2409=) c.63C>A (p.Pro21=) c.161C>A n.7596C>A c.7500C>A (p.Pro2500=) | ClinVar dbSNP |
| 13 | g.32356588C= | CA2082815550 | BRCA2 | c.7596C= (p.Pro2532=) c.7227C= (p.Pro2409=) c.63C= (p.Pro21=) c.161C= n.7596C= c.7500C= (p.Pro2500=) | |
| 13 | g.32356588C>G | CA025170 | BRCA2 | c.7596C>G (p.Pro2532=) c.7227C>G (p.Pro2409=) c.63C>G (p.Pro21=) c.161C>G n.7596C>G c.7500C>G (p.Pro2500=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356588C>T | CA025171 | BRCA2 | c.7596C>T (p.Pro2532=) c.7227C>T (p.Pro2409=) c.63C>T (p.Pro21=) c.161C>T n.7596C>T c.7500C>T (p.Pro2500=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32356588_32356871delinsCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCCTGCTAAAGTGATCTGTGCTTCCAAATTACTACTTCTTTTCCCCCTTCAAATCTTTCTTATTTTGTCATTGTAAA | CA2082815558 | BRCA2 | c.7596_7617+262delinsCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCCTGCTAAAGTGATCTGTGCTTCCAAATTACTACTTCTTTTCCCCCTTCAAATCTTTCTTATTTTGTCATTGTAAA c.7227_7248+262delinsCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCCTGCTAAAGTGATCTGTGCTTCCAAATTACTACTTCTTTTCCCCCTTCAAATCTTTCTTATTTTGTCATTGTAAA c.63_84+262delinsCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCCTGCTAAAGTGATCTGTGCTTCCAAATTACTACTTCTTTTCCCCCTTCAAATCTTTCTTATTTTGTCATTGTAAA c.161_182+262delinsCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCCTGCTAAAGTGATCTGTGCTTCCAAATTACTACTTCTTTTCCCCCTTCAAATCTTTCTTATTTTGTCATTGTAAA n.7596_7617+262delinsCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCCTGCTAAAGTGATCTGTGCTTCCAAATTACTACTTCTTTTCCCCCTTCAAATCTTTCTTATTTTGTCATTGTAAA c.7500_7521+262delinsCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCCTGCTAAAGTGATCTGTGCTTCCAAATTACTACTTCTTTTCCCCCTTCAAATCTTTCTTATTTTGTCATTGTAAA | |
| 13 | g.32356589T>A | CA387743933 | BRCA2 | c.7597T>A (p.Ser2533Thr) c.7228T>A (p.Ser2410Thr) c.64T>A (p.Ser22Thr) c.162T>A n.7597T>A c.7501T>A (p.Ser2501Thr) | ClinVar dbSNP |
| 13 | g.32356589T>C | CA387743938 | BRCA2 | c.7597T>C (p.Ser2533Pro) c.7228T>C (p.Ser2410Pro) c.64T>C (p.Ser22Pro) c.162T>C n.7597T>C c.7501T>C (p.Ser2501Pro) | ClinVar dbSNP |
| 13 | g.32356589T>G | CA025172 | BRCA2 | c.7597T>G (p.Ser2533Ala) c.7228T>G (p.Ser2410Ala) c.64T>G (p.Ser22Ala) c.162T>G n.7597T>G c.7501T>G (p.Ser2501Ala) | ClinVar dbSNP |
| 13 | g.32356589T= | CA2082815567 | BRCA2 | c.7597T= (p.Ser2533=) c.7228T= (p.Ser2410=) c.64T= (p.Ser22=) c.162T= n.7597T= c.7501T= (p.Ser2501=) | |
| 13 | g.32356590_32356872del | CA10586327 | BRCA2 | c.7598_7617+263del c.7229_7248+263del c.65_84+263del c.163_182+263del n.7598_7617+263del c.7502_7521+263del | ClinVar dbSNP |
| 13 | g.32356590C>A | CA387743941 | BRCA2 | c.7598C>A (p.Ser2533Tyr) c.7229C>A (p.Ser2410Tyr) c.65C>A (p.Ser22Tyr) c.163C>A n.7598C>A c.7502C>A (p.Ser2501Tyr) | dbSNP |
| 13 | g.32356590C= | CA2082815574 | BRCA2 | c.7598C= (p.Ser2533=) c.7229C= (p.Ser2410=) c.65C= (p.Ser22=) c.163C= n.7598C= c.7502C= (p.Ser2501=) | |
| 13 | g.32356590C>G | CA025173 | BRCA2 | c.7598C>G (p.Ser2533Cys) c.7229C>G (p.Ser2410Cys) c.65C>G (p.Ser22Cys) c.163C>G n.7598C>G c.7502C>G (p.Ser2501Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32356590C>T | CA387743945 | BRCA2 | c.7598C>T (p.Ser2533Phe) c.7229C>T (p.Ser2410Phe) c.65C>T (p.Ser22Phe) c.163C>T n.7598C>T c.7502C>T (p.Ser2501Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356591T>A | CA483260462 | BRCA2 | c.7599T>A (p.Ser2533=) c.7230T>A (p.Ser2410=) c.66T>A (p.Ser22=) c.164T>A n.7599T>A c.7503T>A (p.Ser2501=) | dbSNP |
| 13 | g.32356591T>C | CA483260455 | BRCA2 | c.7599T>C (p.Ser2533=) c.7230T>C (p.Ser2410=) c.66T>C (p.Ser22=) c.164T>C n.7599T>C c.7503T>C (p.Ser2501=) | ClinVar dbSNP |
| 13 | g.32356591T>G | CA483260456 | BRCA2 | c.7599T>G (p.Ser2533=) c.7230T>G (p.Ser2410=) c.66T>G (p.Ser22=) c.164T>G n.7599T>G c.7503T>G (p.Ser2501=) | |
| 13 | g.32356591T= | CA2082815581 | BRCA2 | c.7599T= (p.Ser2533=) c.7230T= (p.Ser2410=) c.66T= (p.Ser22=) c.164T= n.7599T= c.7503T= (p.Ser2501=) | |
| 13 | g.32356592G>A | CA387743948 | BRCA2 | c.7600G>A (p.Ala2534Thr) c.7231G>A (p.Ala2411Thr) c.67G>A (p.Ala23Thr) c.165G>A n.7600G>A c.7504G>A (p.Ala2502Thr) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356592G>C | CA387743949 | BRCA2 | c.7600G>C (p.Ala2534Pro) c.7231G>C (p.Ala2411Pro) c.67G>C (p.Ala23Pro) c.165G>C n.7600G>C c.7504G>C (p.Ala2502Pro) | dbSNP |
| 13 | g.32356592G= | CA2082815587 | BRCA2 | c.7600G= (p.Ala2534=) c.7231G= (p.Ala2411=) c.67G= (p.Ala23=) c.165G= n.7600G= c.7504G= (p.Ala2502=) | |
| 13 | g.32356592G>T | CA387743951 | BRCA2 | c.7600G>T (p.Ala2534Ser) c.7231G>T (p.Ala2411Ser) c.67G>T (p.Ala23Ser) c.165G>T n.7600G>T c.7504G>T (p.Ala2502Ser) | |
| 13 | g.32356593C>A | CA387743953 | BRCA2 | c.7601C>A (p.Ala2534Glu) c.7232C>A (p.Ala2411Glu) c.68C>A (p.Ala23Glu) c.166C>A n.7601C>A c.7505C>A (p.Ala2502Glu) | ClinVar dbSNP |
| 13 | g.32356593C= | CA2082815604 | BRCA2 | c.7601C= (p.Ala2534=) c.7232C= (p.Ala2411=) c.68C= (p.Ala23=) c.166C= n.7601C= c.7505C= (p.Ala2502=) | |
| 13 | g.32356593C>G | CA387743956 | BRCA2 | c.7601C>G (p.Ala2534Gly) c.7232C>G (p.Ala2411Gly) c.68C>G (p.Ala23Gly) c.166C>G n.7601C>G c.7505C>G (p.Ala2502Gly) | ClinVar dbSNP |
| 13 | g.32356593C>T | CA025174 | BRCA2 | c.7601C>T (p.Ala2534Val) c.7232C>T (p.Ala2411Val) c.68C>T (p.Ala23Val) c.166C>T n.7601C>T c.7505C>T (p.Ala2502Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32356593_32356594delinsCG | CA2082815595 | BRCA2 | c.7601_7602delinsCG (p.Ala2534=) c.7232_7233delinsCG (p.Ala2411=) c.68_69delinsCG (p.Ala23=) c.166_167delinsCG n.7601_7602delinsCG c.7505_7506delinsCG (p.Ala2502=) | |
| 13 | g.32356593_32356594insTTGCTATTGAGCAAGGTTGCTTGATCAGTAAGGATGCCGATATCACG | CA2549432224 | BRCA2 | c.7601_7602insTTGCTATTGAGCAAGGTTGCTTGATCAGTAAGGATGCCGATATCACG (p.Ser2536TyrfsTer2) c.7232_7233insTTGCTATTGAGCAAGGTTGCTTGATCAGTAAGGATGCCGATATCACG (p.Ser2413TyrfsTer2) c.68_69insTTGCTATTGAGCAAGGTTGCTTGATCAGTAAGGATGCCGATATCACG (p.Ser25TyrfsTer2) c.166_167insTTGCTATTGAGCAAGGTTGCTTGATCAGTAAGGATGCCGATATCACG n.7601_7602insTTGCTATTGAGCAAGGTTGCTTGATCAGTAAGGATGCCGATATCACG c.7505_7506insTTGCTATTGAGCAAGGTTGCTTGATCAGTAAGGATGCCGATATCACG (p.Ser2504TyrfsTer2) | |
| 13 | g.32356594del | CA10579745 | BRCA2 | c.7602del (p.Cys2535ValfsTer16) c.7233del (p.Cys2412ValfsTer16) c.69del (p.Cys24ValfsTer16) c.167del n.7602del c.7506del (p.Cys2503ValfsTer16) | ClinVar dbSNP |
| 13 | g.32356594G>A | CA025175 | BRCA2 | c.7602G>A (p.Ala2534=) c.7233G>A (p.Ala2411=) c.69G>A (p.Ala23=) c.167G>A n.7602G>A c.7506G>A (p.Ala2502=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356594G>C | CA025176 | BRCA2 | c.7602G>C (p.Ala2534=) c.7233G>C (p.Ala2411=) c.69G>C (p.Ala23=) c.167G>C n.7602G>C c.7506G>C (p.Ala2502=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356594G= | CA2082815619 | BRCA2 | c.7602G= (p.Ala2534=) c.7233G= (p.Ala2411=) c.69G= (p.Ala23=) c.167G= n.7602G= c.7506G= (p.Ala2502=) | |
| 13 | g.32356594G>T | CA247470176 | BRCA2 | c.7602G>T (p.Ala2534=) c.7233G>T (p.Ala2411=) c.69G>T (p.Ala23=) c.167G>T n.7602G>T c.7506G>T (p.Ala2502=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356595T>A | CA387743964 | BRCA2 | c.7603T>A (p.Cys2535Ser) c.7234T>A (p.Cys2412Ser) c.70T>A (p.Cys24Ser) c.168T>A n.7603T>A c.7507T>A (p.Cys2503Ser) | ClinVar dbSNP |
| 13 | g.32356595T>C | CA387743967 | BRCA2 | c.7603T>C (p.Cys2535Arg) c.7234T>C (p.Cys2412Arg) c.70T>C (p.Cys24Arg) c.168T>C n.7603T>C c.7507T>C (p.Cys2503Arg) | ClinVar dbSNP |
| 13 | g.32356595T>G | CA387743968 | BRCA2 | c.7603T>G (p.Cys2535Gly) c.7234T>G (p.Cys2412Gly) c.70T>G (p.Cys24Gly) c.168T>G n.7603T>G c.7507T>G (p.Cys2503Gly) | |
| 13 | g.32356595T= | CA2082815629 | BRCA2 | c.7603T= (p.Cys2535=) c.7234T= (p.Cys2412=) c.70T= (p.Cys24=) c.168T= n.7603T= c.7507T= (p.Cys2503=) | |
| 13 | g.32356596G>A | CA025177 | BRCA2 | c.7604G>A (p.Cys2535Tyr) c.7235G>A (p.Cys2412Tyr) c.71G>A (p.Cys24Tyr) c.169G>A n.7604G>A c.7508G>A (p.Cys2503Tyr) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356596G>C | CA387743971 | BRCA2 | c.7604G>C (p.Cys2535Ser) c.7235G>C (p.Cys2412Ser) c.71G>C (p.Cys24Ser) c.169G>C n.7604G>C c.7508G>C (p.Cys2503Ser) | dbSNP |
| 13 | g.32356596G= | CA2082815636 | BRCA2 | c.7604G= (p.Cys2535=) c.7235G= (p.Cys2412=) c.71G= (p.Cys24=) c.169G= n.7604G= c.7508G= (p.Cys2503=) | |
| 13 | g.32356596G>T | CA387743974 | BRCA2 | c.7604G>T (p.Cys2535Phe) c.7235G>T (p.Cys2412Phe) c.71G>T (p.Cys24Phe) c.169G>T n.7604G>T c.7508G>T (p.Cys2503Phe) | |
| 13 | g.32356596_32356597delinsAG | CA2695217912 | BRCA2 | c.7604_7605delinsAG (p.Cys2535Ter) c.7235_7236delinsAG (p.Cys2412Ter) c.71_72delinsAG (p.Cys24Ter) c.169_170delinsAG n.7604_7605delinsAG c.7508_7509delinsAG (p.Cys2503Ter) | |
| 13 | g.32356596_32356597insGCCT | CA2535514322 | BRCA2 | c.7604_7605insGCCT (p.Cys2535TrpfsTer5) c.7235_7236insGCCT (p.Cys2412TrpfsTer5) c.71_72insGCCT (p.Cys24TrpfsTer5) c.169_170insGCCT n.7604_7605insGCCT c.7508_7509insGCCT (p.Cys2503TrpfsTer5) | |
| 13 | g.32356597T>A | CA387743975 | BRCA2 | c.7605T>A (p.Cys2535Ter) c.7236T>A (p.Cys2412Ter) c.72T>A (p.Cys24Ter) c.170T>A n.7605T>A c.7509T>A (p.Cys2503Ter) | dbSNP |
| 13 | g.32356597T>C | CA483260465 | BRCA2 | c.7605T>C (p.Cys2535=) c.7236T>C (p.Cys2412=) c.72T>C (p.Cys24=) c.170T>C n.7605T>C c.7509T>C (p.Cys2503=) | ClinVar dbSNP |
| 13 | g.32356597T>G | CA16614351 | BRCA2 | c.7605T>G (p.Cys2535Trp) c.7236T>G (p.Cys2412Trp) c.72T>G (p.Cys24Trp) c.170T>G n.7605T>G c.7509T>G (p.Cys2503Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356597T= | CA2082815642 | BRCA2 | c.7605T= (p.Cys2535=) c.7236T= (p.Cys2412=) c.72T= (p.Cys24=) c.170T= n.7605T= c.7509T= (p.Cys2503=) | |
| 13 | g.32356597_32356598insGGAGC | CA2082815645 | BRCA2 | c.7605_7606insGGAGC (p.Ser2536GlyfsTer17) c.7236_7237insGGAGC (p.Ser2413GlyfsTer17) c.72_73insGGAGC (p.Ser25GlyfsTer17) c.170_171insGGAGC n.7605_7606insGGAGC c.7509_7510insGGAGC (p.Ser2504GlyfsTer17) | dbSNP |
| 13 | g.32356598T>A | CA387743977 | BRCA2 | c.7606T>A (p.Ser2536Thr) c.7237T>A (p.Ser2413Thr) c.73T>A (p.Ser25Thr) c.171T>A n.7606T>A c.7510T>A (p.Ser2504Thr) | dbSNP |
| 13 | g.32356598T>C | CA10579746 | BRCA2 | c.7606T>C (p.Ser2536Pro) c.7237T>C (p.Ser2413Pro) c.73T>C (p.Ser25Pro) c.171T>C n.7606T>C c.7510T>C (p.Ser2504Pro) | ClinVar dbSNP |
| 13 | g.32356598T>G | CA387743985 | BRCA2 | c.7606T>G (p.Ser2536Ala) c.7237T>G (p.Ser2413Ala) c.73T>G (p.Ser25Ala) c.171T>G n.7606T>G c.7510T>G (p.Ser2504Ala) | |
| 13 | g.32356598T= | CA2018008790 | BRCA2 | c.7606T= (p.Ser2536=) c.7237T= (p.Ser2413=) c.73T= (p.Ser25=) c.171T= n.7606T= c.7510T= (p.Ser2504=) | |
| 13 | g.32356598_32356599insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA | CA2082815649 | BRCA2 | c.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA (p.Ser2536TyrfsTer7) c.7237_7238insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA (p.Ser2413TyrfsTer7) c.73_74insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA (p.Ser25TyrfsTer7) c.171_172insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA n.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA c.7510_7511insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA (p.Ser2504TyrfsTer7) | dbSNP |
| 13 | g.32356599C>A | CA387743993 | BRCA2 | c.7607C>A (p.Ser2536Tyr) c.7238C>A (p.Ser2413Tyr) c.74C>A (p.Ser25Tyr) c.172C>A n.7607C>A c.7511C>A (p.Ser2504Tyr) | |
| 13 | g.32356599C>G | CA387743995 | BRCA2 | c.7607C>G (p.Ser2536Cys) c.7238C>G (p.Ser2413Cys) c.74C>G (p.Ser25Cys) c.172C>G n.7607C>G c.7511C>G (p.Ser2504Cys) | |
| 13 | g.32356599C>T | CA387743989 | BRCA2 | c.7607C>T (p.Ser2536Phe) c.7238C>T (p.Ser2413Phe) c.74C>T (p.Ser25Phe) c.172C>T n.7607C>T c.7511C>T (p.Ser2504Phe) | |
| 13 | g.32356599_32356600insGGGTGGAGCTACCCGAGCTCT | CA2507401192 | BRCA2 | c.7607_7608insGGGTGGAGCTACCCGAGCTCT (p.Ser2536_His2537insGlyGlyAlaThrArgAlaLeu) c.7238_7239insGGGTGGAGCTACCCGAGCTCT (p.Ser2413_His2414insGlyGlyAlaThrArgAlaLeu) c.74_75insGGGTGGAGCTACCCGAGCTCT (p.Ser25_His26insGlyGlyAlaThrArgAlaLeu) c.172_173insGGGTGGAGCTACCCGAGCTCT n.7607_7608insGGGTGGAGCTACCCGAGCTCT c.7511_7512insGGGTGGAGCTACCCGAGCTCT (p.Ser2504_His2505insGlyGlyAlaThrArgAlaLeu) | |
| 13 | g.32356600T>A | CA483260469 | BRCA2 | c.7608T>A (p.Ser2536=) c.7239T>A (p.Ser2413=) c.75T>A (p.Ser25=) c.173T>A n.7608T>A c.7512T>A (p.Ser2504=) | dbSNP |
| 13 | g.32356600T>C | CA483260467 | BRCA2 | c.7608T>C (p.Ser2536=) c.7239T>C (p.Ser2413=) c.75T>C (p.Ser25=) c.173T>C n.7608T>C c.7512T>C (p.Ser2504=) | dbSNP |
| 13 | g.32356600T>G | CA483260466 | BRCA2 | c.7608T>G (p.Ser2536=) c.7239T>G (p.Ser2413=) c.75T>G (p.Ser25=) c.173T>G n.7608T>G c.7512T>G (p.Ser2504=) | |
| 13 | g.32356601C>A | CA387743997 | BRCA2 | c.7609C>A (p.His2537Asn) c.7240C>A (p.His2414Asn) c.76C>A (p.His26Asn) c.174C>A n.7609C>A c.7513C>A (p.His2505Asn) | |
| 13 | g.32356601C= | CA2082815652 | BRCA2 | c.7609C= (p.His2537=) c.7240C= (p.His2414=) c.76C= (p.His26=) c.174C= n.7609C= c.7513C= (p.His2505=) | |
| 13 | g.32356601C>G | CA387744004 | BRCA2 | c.7609C>G (p.His2537Asp) c.7240C>G (p.His2414Asp) c.76C>G (p.His26Asp) c.174C>G n.7609C>G c.7513C>G (p.His2505Asp) | dbSNP |
| 13 | g.32356601C>T | CA387744005 | BRCA2 | c.7609C>T (p.His2537Tyr) c.7240C>T (p.His2414Tyr) c.76C>T (p.His26Tyr) c.174C>T n.7609C>T c.7513C>T (p.His2505Tyr) | ClinVar dbSNP |
| 13 | g.32356602A= | CA2082815668 | BRCA2 | c.7610A= (p.His2537=) c.7241A= (p.His2414=) c.77A= (p.His26=) c.175A= n.7610A= c.7514A= (p.His2505=) | |
| 13 | g.32356602A>C | CA387744006 | BRCA2 | c.7610A>C (p.His2537Pro) c.7241A>C (p.His2414Pro) c.77A>C (p.His26Pro) c.175A>C n.7610A>C c.7514A>C (p.His2505Pro) | gnomAD v4 |
| 13 | g.32356602A>G | CA025178 | BRCA2 | c.7610A>G (p.His2537Arg) c.7241A>G (p.His2414Arg) c.77A>G (p.His26Arg) c.175A>G n.7610A>G c.7514A>G (p.His2505Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356602A>T | CA387744008 | BRCA2 | c.7610A>T (p.His2537Leu) c.7241A>T (p.His2414Leu) c.77A>T (p.His26Leu) c.175A>T n.7610A>T c.7514A>T (p.His2505Leu) | dbSNP |
| 13 | g.32356602_32356603insCCGTGACCTCGGCAGAG | CA2571358683 | BRCA2 | c.7610_7611insCCGTGACCTCGGCAGAG (p.Lys2538ArgfsTer19) c.7241_7242insCCGTGACCTCGGCAGAG (p.Lys2415ArgfsTer19) c.77_78insCCGTGACCTCGGCAGAG (p.Lys27ArgfsTer19) c.175_176insCCGTGACCTCGGCAGAG n.7610_7611insCCGTGACCTCGGCAGAG c.7514_7515insCCGTGACCTCGGCAGAG (p.Lys2506ArgfsTer19) | |
| 13 | g.32356603T>A | CA387744009 | BRCA2 | c.7611T>A (p.His2537Gln) c.7242T>A (p.His2414Gln) c.78T>A (p.His26Gln) c.176T>A n.7611T>A c.7515T>A (p.His2505Gln) | |
| 13 | g.32356603T>C | CA483260472 | BRCA2 | c.7611T>C (p.His2537=) c.7242T>C (p.His2414=) c.78T>C (p.His26=) c.176T>C n.7611T>C c.7515T>C (p.His2505=) | ClinVar dbSNP |
| 13 | g.32356603T>G | CA387744011 | BRCA2 | c.7611T>G (p.His2537Gln) c.7242T>G (p.His2414Gln) c.78T>G (p.His26Gln) c.176T>G n.7611T>G c.7515T>G (p.His2505Gln) | gnomAD v4 |
| 13 | g.32356603T= | CA2082815679 | BRCA2 | c.7611T= (p.His2537=) c.7242T= (p.His2414=) c.78T= (p.His26=) c.176T= n.7611T= c.7515T= (p.His2505=) | |
| 13 | g.32356604A= | CA2082815690 | BRCA2 | c.7612A= (p.Lys2538=) c.7243A= (p.Lys2415=) c.79A= (p.Lys27=) c.177A= n.7612A= c.7516A= (p.Lys2506=) | |
| 13 | g.32356604A>C | CA387744012 | BRCA2 | c.7612A>C (p.Lys2538Gln) c.7243A>C (p.Lys2415Gln) c.79A>C (p.Lys27Gln) c.177A>C n.7612A>C c.7516A>C (p.Lys2506Gln) | |
| 13 | g.32356604A>G | CA025179 | BRCA2 | c.7612A>G (p.Lys2538Glu) c.7243A>G (p.Lys2415Glu) c.79A>G (p.Lys27Glu) c.177A>G n.7612A>G c.7516A>G (p.Lys2506Glu) | ClinVar dbSNP |
| 13 | g.32356604A>T | CA025180 | BRCA2 | c.7612A>T (p.Lys2538Ter) c.7243A>T (p.Lys2415Ter) c.79A>T (p.Lys27Ter) c.177A>T n.7612A>T c.7516A>T (p.Lys2506Ter) | ClinVar dbSNP |
| 13 | g.32356605_32356606dup | CA913188531 | BRCA2 | c.7613_7614dup (p.Gln2539AsnfsTer13) c.7244_7245dup (p.Gln2416AsnfsTer13) c.80_81dup (p.Gln28AsnfsTer13) c.178_179dup n.7613_7614dup c.7517_7518dup (p.Gln2507AsnfsTer13) | ClinVar dbSNP |
| 13 | g.32356604_32356605insTG | CA2520953627 | BRCA2 | c.7612_7613insTG (p.Lys2538MetfsTer14) c.7243_7244insTG (p.Lys2415MetfsTer14) c.79_80insTG (p.Lys27MetfsTer14) c.177_178insTG n.7612_7613insTG c.7516_7517insTG (p.Lys2506MetfsTer14) | |
| 13 | g.32356605A>C | CA387744018 | BRCA2 | c.7613A>C (p.Lys2538Thr) c.7244A>C (p.Lys2415Thr) c.80A>C (p.Lys27Thr) c.178A>C n.7613A>C c.7517A>C (p.Lys2506Thr) | |
| 13 | g.32356605A>G | CA387744020 | BRCA2 | c.7613A>G (p.Lys2538Arg) c.7244A>G (p.Lys2415Arg) c.80A>G (p.Lys27Arg) c.178A>G n.7613A>G c.7517A>G (p.Lys2506Arg) | dbSNP |
| 13 | g.32356605A>T | CA387744023 | BRCA2 | c.7613A>T (p.Lys2538Ile) c.7244A>T (p.Lys2415Ile) c.80A>T (p.Lys27Ile) c.178A>T n.7613A>T c.7517A>T (p.Lys2506Ile) | |
| 13 | g.32356606A>C | CA387744028 | BRCA2 | c.7614A>C (p.Lys2538Asn) c.7245A>C (p.Lys2415Asn) c.81A>C (p.Lys27Asn) c.179A>C n.7614A>C c.7518A>C (p.Lys2506Asn) | |
| 13 | g.32356606A>G | CA483260476 | BRCA2 | c.7614A>G (p.Lys2538=) c.7245A>G (p.Lys2415=) c.81A>G (p.Lys27=) c.179A>G n.7614A>G c.7518A>G (p.Lys2506=) | |
| 13 | g.32356606A>T | CA387744025 | BRCA2 | c.7614A>T (p.Lys2538Asn) c.7245A>T (p.Lys2415Asn) c.81A>T (p.Lys27Asn) c.179A>T n.7614A>T c.7518A>T (p.Lys2506Asn) | dbSNP |
| 13 | g.32356606_32356607insGCGATG | CA2506417875 | BRCA2 | c.7614_7615insGCGATG (p.Lys2538_Gln2539insAlaMet) c.7245_7246insGCGATG (p.Lys2415_Gln2416insAlaMet) c.81_82insGCGATG (p.Lys27_Gln28insAlaMet) c.179_180insGCGATG n.7614_7615insGCGATG c.7518_7519insGCGATG (p.Lys2506_Gln2507insAlaMet) | |
| 13 | g.32356607C>A | CA387744031 | BRCA2 | c.7615C>A (p.Gln2539Lys) c.7246C>A (p.Gln2416Lys) c.82C>A (p.Gln28Lys) c.180C>A n.7615C>A c.7519C>A (p.Gln2507Lys) | |
| 13 | g.32356607C= | CA2082815697 | BRCA2 | c.7615C= (p.Gln2539=) c.7246C= (p.Gln2416=) c.82C= (p.Gln28=) c.180C= n.7615C= c.7519C= (p.Gln2507=) | |
| 13 | g.32356607C>G | CA387744035 | BRCA2 | c.7615C>G (p.Gln2539Glu) c.7246C>G (p.Gln2416Glu) c.82C>G (p.Gln28Glu) c.180C>G n.7615C>G c.7519C>G (p.Gln2507Glu) | dbSNP |
| 13 | g.32356607C>T | CA10589440 | BRCA2 | c.7615C>T (p.Gln2539Ter) c.7246C>T (p.Gln2416Ter) c.82C>T (p.Gln28Ter) c.180C>T n.7615C>T c.7519C>T (p.Gln2507Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356608A= | CA2082815703 | BRCA2 | c.7616A= (p.Gln2539=) c.7247A= (p.Gln2416=) c.83A= (p.Gln28=) c.181A= n.7616A= c.7520A= (p.Gln2507=) | |
| 13 | g.32356608A>C | CA387744037 | BRCA2 | c.7616A>C (p.Gln2539Pro) c.7247A>C (p.Gln2416Pro) c.83A>C (p.Gln28Pro) c.181A>C n.7616A>C c.7520A>C (p.Gln2507Pro) | |
| 13 | g.32356608A>G | CA025181 | BRCA2 | c.7616A>G (p.Gln2539Arg) c.7247A>G (p.Gln2416Arg) c.83A>G (p.Gln28Arg) c.181A>G n.7616A>G c.7520A>G (p.Gln2507Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32356608A>T | CA387744038 | BRCA2 | c.7616A>T (p.Gln2539Leu) c.7247A>T (p.Gln2416Leu) c.83A>T (p.Gln28Leu) c.181A>T n.7616A>T c.7520A>T (p.Gln2507Leu) | |
| 13 | g.32356608_32356609delinsAG | CA2082815705 | BRCA2 | c.7616_7617delinsAG (p.Gln2539=) c.7247_7248delinsAG (p.Gln2416=) c.83_84delinsAG (p.Gln28=) c.181_182delinsAG n.7616_7617delinsAG c.7520_7521delinsAG (p.Gln2507=) | |
| 13 | g.32356608_32356609insCTCGGCATGGCATAAGGC | CA2531307307 | BRCA2 | c.7616_7617insCTCGGCATGGCATAAGGC (p.Gln2539delinsHisSerAlaTrpHisLysAla) c.7247_7248insCTCGGCATGGCATAAGGC (p.Gln2416delinsHisSerAlaTrpHisLysAla) c.83_84insCTCGGCATGGCATAAGGC (p.Gln28delinsHisSerAlaTrpHisLysAla) c.181_182insCTCGGCATGGCATAAGGC n.7616_7617insCTCGGCATGGCATAAGGC c.7520_7521insCTCGGCATGGCATAAGGC (p.Gln2507delinsHisSerAlaTrpHisLysAla) | |
| 13 | g.32356609G>A | CA483260480 | BRCA2 | c.7617G>A (p.Gln2539=) c.7248G>A (p.Gln2416=) c.84G>A (p.Gln28=) c.182G>A n.7617G>A c.7521G>A (p.Gln2507=) | ClinVar dbSNP |
| 13 | g.32356609G>C | CA387744043 | BRCA2 | c.7617G>C (p.Gln2539His) c.7248G>C (p.Gln2416His) c.84G>C (p.Gln28His) c.182G>C n.7617G>C c.7521G>C (p.Gln2507His) | ClinVar dbSNP |
| 13 | g.32356609G= | CA2082815712 | BRCA2 | c.7617G= (p.Gln2539=) c.7248G= (p.Gln2416=) c.84G= (p.Gln28=) c.182G= n.7617G= c.7521G= (p.Gln2507=) | |
| 13 | g.32356609G>T | CA387744048 | BRCA2 | c.7617G>T (p.Gln2539His) c.7248G>T (p.Gln2416His) c.84G>T (p.Gln28His) c.182G>T n.7617G>T c.7521G>T (p.Gln2507His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32356610del | CA915946873 | BRCA2 | c.7617+1del c.7248+1del c.84+1del c.182+1del n.7617+1del c.7521+1del | ClinVar dbSNP |
| 13 | g.32356610G>A | CA025182 | BRCA2 | c.7617+1G>A (n.7617+1G>A) c.7248+1G>A (n.7248+1G>A) c.84+1G>A (n.84+1G>A) c.182+1G>A n.7617+1G>A c.7521+1G>A (n.7521+1G>A) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356610G>C | CA10584451 | BRCA2 | c.7617+1G>C (n.7617+1G>C) c.7248+1G>C (n.7248+1G>C) c.84+1G>C (n.84+1G>C) c.182+1G>C n.7617+1G>C c.7521+1G>C (n.7521+1G>C) | ClinVar dbSNP |
| 13 | g.32356610G= | CA2082815725 | BRCA2 | c.7617+1G= (n.7617+1G=) c.7248+1G= (n.7248+1G=) c.84+1G= (n.84+1G=) c.182+1G= n.7617+1G= c.7521+1G= (n.7521+1G=) | |
| 13 | g.32356610G>T | CA025183 | BRCA2 | c.7617+1G>T (n.7617+1G>T) c.7248+1G>T (n.7248+1G>T) c.84+1G>T (n.84+1G>T) c.182+1G>T n.7617+1G>T c.7521+1G>T (n.7521+1G>T) | ClinVar dbSNP |
| 13 | g.32356610_32356627delinsGTATGTGTTTGTCTACAA | CA2082815722 | BRCA2 | c.7617+1_7617+18delinsGTATGTGTTTGTCTACAA (n.7617+1_7617+18delinsGTATGTGTTTGTCTACAA) c.7248+1_7248+18delinsGTATGTGTTTGTCTACAA (n.7248+1_7248+18delinsGTATGTGTTTGTCTACAA) c.84+1_84+18delinsGTATGTGTTTGTCTACAA (n.84+1_84+18delinsGTATGTGTTTGTCTACAA) c.182+1_182+18delinsGTATGTGTTTGTCTACAA n.7617+1_7617+18delinsGTATGTGTTTGTCTACAA c.7521+1_7521+18delinsGTATGTGTTTGTCTACAA (n.7521+1_7521+18delinsGTATGTGTTTGTCTACAA) | |
| 13 | g.32356611T>A | CA387744059 | BRCA2 | c.7617+2T>A (n.7617+2T>A) c.7248+2T>A (n.7248+2T>A) c.84+2T>A (n.84+2T>A) c.182+2T>A n.7617+2T>A c.7521+2T>A (n.7521+2T>A) | dbSNP |
| 13 | g.32356611T>C | CA387744060 | BRCA2 | c.7617+2T>C (n.7617+2T>C) c.7248+2T>C (n.7248+2T>C) c.84+2T>C (n.84+2T>C) c.182+2T>C n.7617+2T>C c.7521+2T>C (n.7521+2T>C) | dbSNP |
| 13 | g.32356611T>G | CA025184 | BRCA2 | c.7617+2T>G (n.7617+2T>G) c.7248+2T>G (n.7248+2T>G) c.84+2T>G (n.84+2T>G) c.182+2T>G n.7617+2T>G c.7521+2T>G (n.7521+2T>G) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356611T= | CA2082815733 | BRCA2 | c.7617+2T= (n.7617+2T=) c.7248+2T= (n.7248+2T=) c.84+2T= (n.84+2T=) c.182+2T= n.7617+2T= c.7521+2T= (n.7521+2T=) | |
| 13 | g.32356611dup | CA2622571725 | BRCA2 | c.7617+2dup (n.7617+2dup) c.7248+2dup (n.7248+2dup) c.84+2dup (n.84+2dup) c.182+2dup n.7617+2dup c.7521+2dup (n.7521+2dup) | ClinVar gnomAD v4 |
| 13 | g.32356613_32356629del | CA697350952 | BRCA2 | c.7617+4_7617+20del (n.7617+4_7617+20del) c.7248+4_7248+20del (n.7248+4_7248+20del) c.84+4_84+20del (n.84+4_84+20del) c.182+4_182+20del n.7617+4_7617+20del c.7521+4_7521+20del (n.7521+4_7521+20del) | ClinVar dbSNP |
| 13 | g.32356612A= | CA2082815742 | BRCA2 | c.7617+3A= (n.7617+3A=) c.7248+3A= (n.7248+3A=) c.84+3A= (n.84+3A=) c.182+3A= n.7617+3A= c.7521+3A= (n.7521+3A=) | |
| 13 | g.32356612A>G | CA609453974 | BRCA2 | c.7617+3A>G (n.7617+3A>G) c.7248+3A>G (n.7248+3A>G) c.84+3A>G (n.84+3A>G) c.182+3A>G n.7617+3A>G c.7521+3A>G (n.7521+3A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356612A>T | CA2727856590 | BRCA2 | c.7617+3A>T (n.7617+3A>T) c.7248+3A>T (n.7248+3A>T) c.84+3A>T (n.84+3A>T) c.182+3A>T n.7617+3A>T c.7521+3A>T (n.7521+3A>T) | dbSNP |
| 13 | g.32356613T>A | CA2727836588 | BRCA2 | c.7617+4T>A (n.7617+4T>A) c.7248+4T>A (n.7248+4T>A) c.84+4T>A (n.84+4T>A) c.182+4T>A n.7617+4T>A c.7521+4T>A (n.7521+4T>A) | dbSNP |
| 13 | g.32356613T>C | CA025185 | BRCA2 | c.7617+4T>C (n.7617+4T>C) c.7248+4T>C (n.7248+4T>C) c.84+4T>C (n.84+4T>C) c.182+4T>C n.7617+4T>C c.7521+4T>C (n.7521+4T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32356613T>G | CA609453975 | BRCA2 | c.7617+4T>G (n.7617+4T>G) c.7248+4T>G (n.7248+4T>G) c.84+4T>G (n.84+4T>G) c.182+4T>G n.7617+4T>G c.7521+4T>G (n.7521+4T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356613T= | CA2082815745 | BRCA2 | c.7617+4T= (n.7617+4T=) c.7248+4T= (n.7248+4T=) c.84+4T= (n.84+4T=) c.182+4T= n.7617+4T= c.7521+4T= (n.7521+4T=) | |
| 13 | g.32356614G>A | CA2697551782 | BRCA2 | c.7617+5G>A (n.7617+5G>A) c.7248+5G>A (n.7248+5G>A) c.84+5G>A (n.84+5G>A) c.182+5G>A n.7617+5G>A c.7521+5G>A (n.7521+5G>A) | ClinVar dbSNP |
| 13 | g.32356614G>C | CA2622571728 | BRCA2 | c.7617+5G>C (n.7617+5G>C) c.7248+5G>C (n.7248+5G>C) c.84+5G>C (n.84+5G>C) c.182+5G>C n.7617+5G>C c.7521+5G>C (n.7521+5G>C) | dbSNP gnomAD v4 |
| 13 | g.32356615T>A | CA2622571729 | BRCA2 | c.7617+6T>A (n.7617+6T>A) c.7248+6T>A (n.7248+6T>A) c.84+6T>A (n.84+6T>A) c.182+6T>A n.7617+6T>A c.7521+6T>A (n.7521+6T>A) | dbSNP gnomAD v4 |
| 13 | g.32356615T>C | CA2575388055 | BRCA2 | c.7617+6T>C (n.7617+6T>C) c.7248+6T>C (n.7248+6T>C) c.84+6T>C (n.84+6T>C) c.182+6T>C n.7617+6T>C c.7521+6T>C (n.7521+6T>C) | ClinVar |
| 13 | g.32356618_32356621del | CA2499222297 | BRCA2 | c.7617+9_7617+12del (n.7617+9_7617+12del) c.7248+9_7248+12del (n.7248+9_7248+12del) c.84+9_84+12del (n.84+9_84+12del) c.182+9_182+12del n.7617+9_7617+12del c.7521+9_7521+12del (n.7521+9_7521+12del) | ClinVar dbSNP |
| 13 | g.32356616G>A | CA2622571730 | BRCA2 | c.7617+7G>A (n.7617+7G>A) c.7248+7G>A (n.7248+7G>A) c.84+7G>A (n.84+7G>A) c.182+7G>A n.7617+7G>A c.7521+7G>A (n.7521+7G>A) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356616G>C | CA2727924732 | BRCA2 | c.7617+7G>C (n.7617+7G>C) c.7248+7G>C (n.7248+7G>C) c.84+7G>C (n.84+7G>C) c.182+7G>C n.7617+7G>C c.7521+7G>C (n.7521+7G>C) | dbSNP |
| 13 | g.32356617T>A | CA2727924749 | BRCA2 | c.7617+8T>A (n.7617+8T>A) c.7248+8T>A (n.7248+8T>A) c.84+8T>A (n.84+8T>A) c.182+8T>A n.7617+8T>A c.7521+8T>A (n.7521+8T>A) | dbSNP |
| 13 | g.32356619del | CA645593676 | BRCA2 | c.7617+10del (n.7617+10del) c.7248+10del (n.7248+10del) c.84+10del (n.84+10del) c.182+10del n.7617+10del c.7521+10del (n.7521+10del) | COSMIC COSMIC |
| 13 | g.32356618T>A | CA2727924753 | BRCA2 | c.7617+9T>A (n.7617+9T>A) c.7248+9T>A (n.7248+9T>A) c.84+9T>A (n.84+9T>A) c.182+9T>A n.7617+9T>A c.7521+9T>A (n.7521+9T>A) | dbSNP |
| 13 | g.32356618T>C | CA2727924752 | BRCA2 | c.7617+9T>C (n.7617+9T>C) c.7248+9T>C (n.7248+9T>C) c.84+9T>C (n.84+9T>C) c.182+9T>C n.7617+9T>C c.7521+9T>C (n.7521+9T>C) | dbSNP |
| 13 | g.32356619T>A | CA2727924754 | BRCA2 | c.7617+10T>A (n.7617+10T>A) c.7248+10T>A (n.7248+10T>A) c.84+10T>A (n.84+10T>A) c.182+10T>A n.7617+10T>A c.7521+10T>A (n.7521+10T>A) | dbSNP |
| 13 | g.32356619_32356620delinsTG | CA2082815751 | BRCA2 | c.7617+10_7617+11delinsTG (n.7617+10_7617+11delinsTG) c.7248+10_7248+11delinsTG (n.7248+10_7248+11delinsTG) c.84+10_84+11delinsTG (n.84+10_84+11delinsTG) c.182+10_182+11delinsTG n.7617+10_7617+11delinsTG c.7521+10_7521+11delinsTG (n.7521+10_7521+11delinsTG) | |
| 13 | g.32356620del | CA6941109 | BRCA2 | c.7617+11del (n.7617+11del) c.7248+11del (n.7248+11del) c.84+11del (n.84+11del) c.182+11del n.7617+11del c.7521+11del (n.7521+11del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32356620G>A | CA658656445 | BRCA2 | c.7617+11G>A (n.7617+11G>A) c.7248+11G>A (n.7248+11G>A) c.84+11G>A (n.84+11G>A) c.182+11G>A n.7617+11G>A c.7521+11G>A (n.7521+11G>A) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356620G>C | CA609453976 | BRCA2 | c.7617+11G>C (n.7617+11G>C) c.7248+11G>C (n.7248+11G>C) c.84+11G>C (n.84+11G>C) c.182+11G>C n.7617+11G>C c.7521+11G>C (n.7521+11G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356620G= | CA2082815756 | BRCA2 | c.7617+11G= (n.7617+11G=) c.7248+11G= (n.7248+11G=) c.84+11G= (n.84+11G=) c.182+11G= n.7617+11G= c.7521+11G= (n.7521+11G=) | |
| 13 | g.32356620G>T | CA2580087491 | BRCA2 | c.7617+11G>T (n.7617+11G>T) c.7248+11G>T (n.7248+11G>T) c.84+11G>T (n.84+11G>T) c.182+11G>T n.7617+11G>T c.7521+11G>T (n.7521+11G>T) | ClinVar |
| 13 | g.32356621T>A | CA915946874 | BRCA2 | c.7617+12T>A (n.7617+12T>A) c.7248+12T>A (n.7248+12T>A) c.84+12T>A (n.84+12T>A) c.182+12T>A n.7617+12T>A c.7521+12T>A (n.7521+12T>A) | ClinVar dbSNP |
| 13 | g.32356621T= | CA2082815763 | BRCA2 | c.7617+12T= (n.7617+12T=) c.7248+12T= (n.7248+12T=) c.84+12T= (n.84+12T=) c.182+12T= n.7617+12T= c.7521+12T= (n.7521+12T=) | |
| 13 | g.32356622C>A | CA2727840721 | BRCA2 | c.7617+13C>A (n.7617+13C>A) c.7248+13C>A (n.7248+13C>A) c.84+13C>A (n.84+13C>A) c.182+13C>A n.7617+13C>A c.7521+13C>A (n.7521+13C>A) | dbSNP |
| 13 | g.32356622C= | CA2082815775 | BRCA2 | c.7617+13C= (n.7617+13C=) c.7248+13C= (n.7248+13C=) c.84+13C= (n.84+13C=) c.182+13C= n.7617+13C= c.7521+13C= (n.7521+13C=) | |
| 13 | g.32356622C>G | CA2727840720 | BRCA2 | c.7617+13C>G (n.7617+13C>G) c.7248+13C>G (n.7248+13C>G) c.84+13C>G (n.84+13C>G) c.182+13C>G n.7617+13C>G c.7521+13C>G (n.7521+13C>G) | dbSNP |
| 13 | g.32356622C>T | CA6941110 | BRCA2 | c.7617+13C>T (n.7617+13C>T) c.7248+13C>T (n.7248+13C>T) c.84+13C>T (n.84+13C>T) c.182+13C>T n.7617+13C>T c.7521+13C>T (n.7521+13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32356623T>A | CA2727924769 | BRCA2 | c.7617+14T>A (n.7617+14T>A) c.7248+14T>A (n.7248+14T>A) c.84+14T>A (n.84+14T>A) c.182+14T>A n.7617+14T>A c.7521+14T>A (n.7521+14T>A) | dbSNP |
| 13 | g.32356623T>C | CA2727924756 | BRCA2 | c.7617+14T>C (n.7617+14T>C) c.7248+14T>C (n.7248+14T>C) c.84+14T>C (n.84+14T>C) c.182+14T>C n.7617+14T>C c.7521+14T>C (n.7521+14T>C) | dbSNP |
| 13 | g.32356623T>G | CA2573149400 | BRCA2 | c.7617+14T>G (n.7617+14T>G) c.7248+14T>G (n.7248+14T>G) c.84+14T>G (n.84+14T>G) c.182+14T>G n.7617+14T>G c.7521+14T>G (n.7521+14T>G) | ClinVar dbSNP |
| 13 | g.32356623_32356624del | CA2739277514 | BRCA2 | c.7617+14_7617+15del (n.7617+14_7617+15del) c.7248+14_7248+15del (n.7248+14_7248+15del) c.84+14_84+15del (n.84+14_84+15del) c.182+14_182+15del n.7617+14_7617+15del c.7521+14_7521+15del (n.7521+14_7521+15del) | ClinVar |
| 13 | g.32356624A>G | CA2499222298 | BRCA2 | c.7617+15A>G (n.7617+15A>G) c.7248+15A>G (n.7248+15A>G) c.84+15A>G (n.84+15A>G) c.182+15A>G n.7617+15A>G c.7521+15A>G (n.7521+15A>G) | ClinVar dbSNP |
| 13 | g.32356624A>T | CA2727924786 | BRCA2 | c.7617+15A>T (n.7617+15A>T) c.7248+15A>T (n.7248+15A>T) c.84+15A>T (n.84+15A>T) c.182+15A>T n.7617+15A>T c.7521+15A>T (n.7521+15A>T) | dbSNP |
| 13 | g.32356625C= | CA2082815780 | BRCA2 | c.7617+16C= (n.7617+16C=) c.7248+16C= (n.7248+16C=) c.84+16C= (n.84+16C=) c.182+16C= n.7617+16C= c.7521+16C= (n.7521+16C=) | |
| 13 | g.32356625C>G | CA2727873216 | BRCA2 | c.7617+16C>G (n.7617+16C>G) c.7248+16C>G (n.7248+16C>G) c.84+16C>G (n.84+16C>G) c.182+16C>G n.7617+16C>G c.7521+16C>G (n.7521+16C>G) | dbSNP |
| 13 | g.32356625C>T | CA658798117 | BRCA2 | c.7617+16C>T (n.7617+16C>T) c.7248+16C>T (n.7248+16C>T) c.84+16C>T (n.84+16C>T) c.182+16C>T n.7617+16C>T c.7521+16C>T (n.7521+16C>T) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356626A= | CA2082815784 | BRCA2 | c.7617+17A= (n.7617+17A=) c.7248+17A= (n.7248+17A=) c.84+17A= (n.84+17A=) c.182+17A= n.7617+17A= c.7521+17A= (n.7521+17A=) | |
| 13 | g.32356626A>C | CA2573149401 | BRCA2 | c.7617+17A>C (n.7617+17A>C) c.7248+17A>C (n.7248+17A>C) c.84+17A>C (n.84+17A>C) c.182+17A>C n.7617+17A>C c.7521+17A>C (n.7521+17A>C) | ClinVar dbSNP |
| 13 | g.32356626A>G | CA658798118 | BRCA2 | c.7617+17A>G (n.7617+17A>G) c.7248+17A>G (n.7248+17A>G) c.84+17A>G (n.84+17A>G) c.182+17A>G n.7617+17A>G c.7521+17A>G (n.7521+17A>G) | ClinVar dbSNP |
| 13 | g.32356627A>G | CA2573053823 | BRCA2 | c.7617+18A>G (n.7617+18A>G) c.7248+18A>G (n.7248+18A>G) c.84+18A>G (n.84+18A>G) c.182+18A>G n.7617+18A>G c.7521+18A>G (n.7521+18A>G) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356628T>C | CA2622571732 | BRCA2 | c.7617+19T>C (n.7617+19T>C) c.7248+19T>C (n.7248+19T>C) c.84+19T>C (n.84+19T>C) c.182+19T>C n.7617+19T>C c.7521+19T>C (n.7521+19T>C) | gnomAD v4 |
| 13 | g.32356629A= | CA2082815793 | BRCA2 | c.7617+20A= (n.7617+20A=) c.7248+20A= (n.7248+20A=) c.84+20A= (n.84+20A=) c.182+20A= n.7617+20A= c.7521+20A= (n.7521+20A=) | |
| 13 | g.32356629A>G | CA954697042 | BRCA2 | c.7617+20A>G (n.7617+20A>G) c.7248+20A>G (n.7248+20A>G) c.84+20A>G (n.84+20A>G) c.182+20A>G n.7617+20A>G c.7521+20A>G (n.7521+20A>G) | dbSNP gnomAD v4 |
| 13 | g.32356629A>T | CA2727912911 | BRCA2 | c.7617+20A>T (n.7617+20A>T) c.7248+20A>T (n.7248+20A>T) c.84+20A>T (n.84+20A>T) c.182+20A>T n.7617+20A>T c.7521+20A>T (n.7521+20A>T) | dbSNP |
| 13 | g.32356630C>A | CA2727924836 | BRCA2 | c.7617+21C>A (n.7617+21C>A) c.7248+21C>A (n.7248+21C>A) c.84+21C>A (n.84+21C>A) c.182+21C>A n.7617+21C>A c.7521+21C>A (n.7521+21C>A) | dbSNP |
| 13 | g.32356630C>G | CA2727924834 | BRCA2 | c.7617+21C>G (n.7617+21C>G) c.7248+21C>G (n.7248+21C>G) c.84+21C>G (n.84+21C>G) c.182+21C>G n.7617+21C>G c.7521+21C>G (n.7521+21C>G) | dbSNP |
| 13 | g.32356631T>A | CA2727858015 | BRCA2 | c.7617+22T>A (n.7617+22T>A) c.7248+22T>A (n.7248+22T>A) c.84+22T>A (n.84+22T>A) c.182+22T>A n.7617+22T>A c.7521+22T>A (n.7521+22T>A) | dbSNP |
| 13 | g.32356631T>G | CA697350972 | BRCA2 | c.7617+22T>G (n.7617+22T>G) c.7248+22T>G (n.7248+22T>G) c.84+22T>G (n.84+22T>G) c.182+22T>G n.7617+22T>G c.7521+22T>G (n.7521+22T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32356631T= | CA2082815798 | BRCA2 | c.7617+22T= (n.7617+22T=) c.7248+22T= (n.7248+22T=) c.84+22T= (n.84+22T=) c.182+22T= n.7617+22T= c.7521+22T= (n.7521+22T=) | |
| 13 | g.32356632G>A | CA2727924858 | BRCA2 | c.7617+23G>A (n.7617+23G>A) c.7248+23G>A (n.7248+23G>A) c.84+23G>A (n.84+23G>A) c.182+23G>A n.7617+23G>A c.7521+23G>A (n.7521+23G>A) | dbSNP |
| 13 | g.32356632G>C | CA2727924857 | BRCA2 | c.7617+23G>C (n.7617+23G>C) c.7248+23G>C (n.7248+23G>C) c.84+23G>C (n.84+23G>C) c.182+23G>C n.7617+23G>C c.7521+23G>C (n.7521+23G>C) | dbSNP |
| 13 | g.32356632G>T | CA2727924860 | BRCA2 | c.7617+23G>T (n.7617+23G>T) c.7248+23G>T (n.7248+23G>T) c.84+23G>T (n.84+23G>T) c.182+23G>T n.7617+23G>T c.7521+23G>T (n.7521+23G>T) | dbSNP |
| 13 | g.32356633A>T | CA2727924891 | BRCA2 | c.7617+24A>T (n.7617+24A>T) c.7248+24A>T (n.7248+24A>T) c.84+24A>T (n.84+24A>T) c.182+24A>T n.7617+24A>T c.7521+24A>T (n.7521+24A>T) | dbSNP |
| 13 | g.32356634T>A | CA2727924914 | BRCA2 | c.7617+25T>A (n.7617+25T>A) c.7248+25T>A (n.7248+25T>A) c.84+25T>A (n.84+25T>A) c.182+25T>A n.7617+25T>A c.7521+25T>A (n.7521+25T>A) | dbSNP |
| 13 | g.32356634T>C | CA2622571733 | BRCA2 | c.7617+25T>C (n.7617+25T>C) c.7248+25T>C (n.7248+25T>C) c.84+25T>C (n.84+25T>C) c.182+25T>C n.7617+25T>C c.7521+25T>C (n.7521+25T>C) | gnomAD v4 |
| 13 | g.32356635G>A | CA2727924949 | BRCA2 | c.7617+26G>A (n.7617+26G>A) c.7248+26G>A (n.7248+26G>A) c.84+26G>A (n.84+26G>A) c.182+26G>A n.7617+26G>A c.7521+26G>A (n.7521+26G>A) | dbSNP |
| 13 | g.32356635G>C | CA2727924935 | BRCA2 | c.7617+26G>C (n.7617+26G>C) c.7248+26G>C (n.7248+26G>C) c.84+26G>C (n.84+26G>C) c.182+26G>C n.7617+26G>C c.7521+26G>C (n.7521+26G>C) | dbSNP |
| 13 | g.32356635G>T | CA2727925016 | BRCA2 | c.7617+26G>T (n.7617+26G>T) c.7248+26G>T (n.7248+26G>T) c.84+26G>T (n.84+26G>T) c.182+26G>T n.7617+26G>T c.7521+26G>T (n.7521+26G>T) | dbSNP |