| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32324894_32328983dup | CA2580086925 | BRCA2 | c.317-182_632-460dup c.-53-182_263-460dup c.*95+68_*411-460dup n.515-182_830-460dup n.317-182_632-460dup | ClinVar |
| 13 | g.32326101_32326613del | CA2581463424 | BRCA2 | c.426_631del c.57_262del n.297_502del c.*205_*410del n.624_829del n.426_631del | |
| 13 | g.32326471_32326622del | CA2695217875 | BRCA2 | c.517-28_631+9del c.148-28_262+9del n.388-28_511del c.*296-28_*410+9del n.715-28_829+9del n.517-28_631+9del | |
| 13 | g.32326497_32326614del | CA2499222047 | BRCA2 | c.517-2_631+1del c.148-2_262+1del n.388-2_503del c.*296-2_*410+1del n.715-2_829+1del n.517-2_631+1del | ClinVar dbSNP |
| 13 | g.32326499_32327075delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA | CA2082751656 | BRCA2 | c.517_631+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA c.148_262+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA c.*296_*410+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA n.715_829+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA n.517_631+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA | |
| 13 | g.32326500_32327075del | CA1139663062 | BRCA2 | c.518_631+462del c.149_262+462del c.*297_*410+462del n.716_829+462del n.518_631+462del | ClinVar dbSNP |
| 13 | g.32326500_32327075delinsAAAGAAATTTTATTTCTTT | CA2697551694 | BRCA2 | c.518_631+462delinsAAAGAAATTTTATTTCTTT c.149_262+462delinsAAAGAAATTTTATTTCTTT c.*297_*410+462delinsAAAGAAATTTTATTTCTTT n.716_829+462delinsAAAGAAATTTTATTTCTTT n.518_631+462delinsAAAGAAATTTTATTTCTTT | ClinVar |
| 13 | g.32326516dup | CA2580087027 | BRCA2 | c.534dup (p.His179ThrfsTer4) c.165dup (p.His56ThrfsTer4) n.405dup c.*313dup (n.*313dup) n.732dup n.534dup | ClinVar |
| 13 | g.32326514_32326516dup | CA645372288 | BRCA2 | c.532_534dup (p.Lys178_His179insLys) c.163_165dup (p.Lys55_His56insLys) n.403_405dup c.*311_*313dup (n.*311_*313dup) n.730_732dup n.532_534dup | dbSNP |
| 13 | g.32326516del | CA1139663063 | BRCA2 | c.534del (p.Lys178AsnfsTer7) c.165del (p.Lys55AsnfsTer7) n.405del c.*313del (n.*313del) n.732del n.534del | ClinVar dbSNP |
| 13 | g.32326514_32326521delinsAAACATAT | CA2082751776 | BRCA2 | c.532_539delinsAAACATAT (p.Lys178=) c.163_170delinsAAACATAT (p.Lys55=) n.403_410delinsAAACATAT c.*311_*318delinsAAACATAT (n.*311_*318delinsAAACATAT) n.730_737delinsAAACATAT n.532_539delinsAAACATAT | |
| 13 | g.32326515A>C | CA387757820 | BRCA2 | c.533A>C (p.Lys178Thr) c.164A>C (p.Lys55Thr) n.404A>C c.*312A>C (n.*312A>C) n.731A>C n.533A>C | |
| 13 | g.32326515A>G | CA387757823 | BRCA2 | c.533A>G (p.Lys178Arg) c.164A>G (p.Lys55Arg) n.404A>G c.*312A>G (n.*312A>G) n.731A>G n.533A>G | dbSNP |
| 13 | g.32326515A>T | CA387757822 | BRCA2 | c.533A>T (p.Lys178Ile) c.164A>T (p.Lys55Ile) n.404A>T c.*312A>T (n.*312A>T) n.731A>T n.533A>T | |
| 13 | g.32326515_32326521delinsGAC | CA658798103 | BRCA2 | c.533_539delinsGAC (p.Lys178ArgfsTer6) c.164_170delinsGAC (p.Lys55ArgfsTer6) n.404_410delinsGAC c.*312_*318delinsGAC (n.*312_*318delinsGAC) n.731_737delinsGAC n.533_539delinsGAC | ClinVar dbSNP |
| 13 | g.32326516A= | CA2082751787 | BRCA2 | c.534A= (p.Lys178=) c.165A= (p.Lys55=) n.405A= c.*313A= (n.*313A=) n.732A= n.534A= | |
| 13 | g.32326516A>C | CA387757825 | BRCA2 | c.534A>C (p.Lys178Asn) c.165A>C (p.Lys55Asn) n.405A>C c.*313A>C (n.*313A>C) n.732A>C n.534A>C | dbSNP |
| 13 | g.32326516A>G | CA022088 | BRCA2 | c.534A>G (p.Lys178=) c.165A>G (p.Lys55=) n.405A>G c.*313A>G (n.*313A>G) n.732A>G n.534A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32326516A>T | CA387757826 | BRCA2 | c.534A>T (p.Lys178Asn) c.165A>T (p.Lys55Asn) n.405A>T c.*313A>T (n.*313A>T) n.732A>T n.534A>T | dbSNP |
| 13 | g.32326517C>A | CA387757828 | BRCA2 | c.535C>A (p.His179Asn) c.166C>A (p.His56Asn) n.406C>A c.*314C>A (n.*314C>A) n.733C>A n.535C>A | ClinVar gnomAD v4 |
| 13 | g.32326517C>G | CA387757831 | BRCA2 | c.535C>G (p.His179Asp) c.166C>G (p.His56Asp) n.406C>G c.*314C>G (n.*314C>G) n.733C>G n.535C>G | |
| 13 | g.32326517C>T | CA387757829 | BRCA2 | c.535C>T (p.His179Tyr) c.166C>T (p.His56Tyr) n.406C>T c.*314C>T (n.*314C>T) n.733C>T n.535C>T | ClinVar dbSNP |
| 13 | g.32326517_32326519delinsCAT | CA2082751796 | BRCA2 | c.535_537delinsCAT (p.His179=) c.166_168delinsCAT (p.His56=) n.406_408delinsCAT c.*314_*316delinsCAT (n.*314_*316delinsCAT) n.733_735delinsCAT n.535_537delinsCAT | |
| 13 | g.32326518A= | CA2082751807 | BRCA2 | c.536A= (p.His179=) c.167A= (p.His56=) n.407A= c.*315A= (n.*315A=) n.734A= n.536A= | |
| 13 | g.32326518A>C | CA387757833 | BRCA2 | c.536A>C (p.His179Pro) c.167A>C (p.His56Pro) n.407A>C c.*315A>C (n.*315A>C) n.734A>C n.536A>C | |
| 13 | g.32326518A>G | CA6940397 | BRCA2 | c.536A>G (p.His179Arg) c.167A>G (p.His56Arg) n.407A>G c.*315A>G (n.*315A>G) n.734A>G n.536A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32326518A>T | CA387757837 | BRCA2 | c.536A>T (p.His179Leu) c.167A>T (p.His56Leu) n.407A>T c.*315A>T (n.*315A>T) n.734A>T n.536A>T | dbSNP |
| 13 | g.32326520_32326521dup | CA022222 | BRCA2 | c.538_539dup (p.Ser181PhefsTer5) c.169_170dup (p.Ser58PhefsTer5) n.409_410dup c.*317_*318dup (n.*317_*318dup) n.736_737dup n.538_539dup | ClinVar dbSNP gnomAD v4 |
| 13 | g.32326520_32326521del | CA022179 | BRCA2 | c.538_539del (p.Ile180PhefsTer2) c.169_170del (p.Ile57PhefsTer2) n.409_410del c.*317_*318del (n.*317_*318del) n.736_737del n.538_539del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32326519T>A | CA387757840 | BRCA2 | c.537T>A (p.His179Gln) c.168T>A (p.His56Gln) n.408T>A c.*316T>A (n.*316T>A) n.735T>A n.537T>A | dbSNP |
| 13 | g.32326519T>C | CA483273831 | BRCA2 | c.537T>C (p.His179=) c.168T>C (p.His56=) n.408T>C c.*316T>C (n.*316T>C) n.735T>C n.537T>C | ClinVar |
| 13 | g.32326519T>G | CA387757839 | BRCA2 | c.537T>G (p.His179Gln) c.168T>G (p.His56Gln) n.408T>G c.*316T>G (n.*316T>G) n.735T>G n.537T>G | |
| 13 | g.32326519dup | CA891843613 | BRCA2 | c.537dup (p.Ile180TyrfsTer3) c.168dup (p.Ile57TyrfsTer3) n.408dup c.*316dup (n.*316dup) n.735dup n.537dup | ClinVar dbSNP |
| 13 | g.32326520A= | CA2082751841 | BRCA2 | c.538A= (p.Ile180=) c.169A= (p.Ile57=) n.409A= c.*317A= (n.*317A=) n.736A= n.538A= | |
| 13 | g.32326520A>C | CA387757844 | BRCA2 | c.538A>C (p.Ile180Leu) c.169A>C (p.Ile57Leu) n.409A>C c.*317A>C (n.*317A>C) n.736A>C n.538A>C | |
| 13 | g.32326520A>G | CA387757842 | BRCA2 | c.538A>G (p.Ile180Val) c.169A>G (p.Ile57Val) n.409A>G c.*317A>G (n.*317A>G) n.736A>G n.538A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32326520A>T | CA387757843 | BRCA2 | c.538A>T (p.Ile180Phe) c.169A>T (p.Ile57Phe) n.409A>T c.*317A>T (n.*317A>T) n.736A>T n.538A>T | ClinVar dbSNP |
| 13 | g.32326520_32326521delinsAT | CA2082751844 | BRCA2 | c.538_539delinsAT (p.Ile180=) c.169_170delinsAT (p.Ile57=) n.409_410delinsAT c.*317_*318delinsAT (n.*317_*318delinsAT) n.736_737delinsAT n.538_539delinsAT | |
| 13 | g.32326521T>A | CA387757845 | BRCA2 | c.539T>A (p.Ile180Asn) c.170T>A (p.Ile57Asn) n.410T>A c.*318T>A (n.*318T>A) n.737T>A n.539T>A | dbSNP |
| 13 | g.32326521T>C | CA022232 | BRCA2 | c.539T>C (p.Ile180Thr) c.170T>C (p.Ile57Thr) n.410T>C c.*318T>C (n.*318T>C) n.737T>C n.539T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32326521T>G | CA387757852 | BRCA2 | c.539T>G (p.Ile180Ser) c.170T>G (p.Ile57Ser) n.410T>G c.*318T>G (n.*318T>G) n.737T>G n.539T>G | |
| 13 | g.32326521T= | CA2082751862 | BRCA2 | c.539T= (p.Ile180=) c.170T= (p.Ile57=) n.410T= c.*318T= (n.*318T=) n.737T= n.539T= | |
| 13 | g.32326523del | CA022226 | BRCA2 | c.541del (p.Ser181LeufsTer4) c.172del (p.Ser58LeufsTer4) n.412del c.*320del (n.*320del) n.739del n.541del | ClinVar dbSNP |
| 13 | g.32326522T>A | CA483273833 | BRCA2 | c.540T>A (p.Ile180=) c.171T>A (p.Ile57=) n.411T>A c.*319T>A (n.*319T>A) n.738T>A n.540T>A | dbSNP |
| 13 | g.32326522T>C | CA483273835 | BRCA2 | c.540T>C (p.Ile180=) c.171T>C (p.Ile57=) n.411T>C c.*319T>C (n.*319T>C) n.738T>C n.540T>C | dbSNP |
| 13 | g.32326522T>G | CA387757855 | BRCA2 | c.540T>G (p.Ile180Met) c.171T>G (p.Ile57Met) n.411T>G c.*319T>G (n.*319T>G) n.738T>G n.540T>G | |
| 13 | g.32326523T>A | CA387757857 | BRCA2 | c.541T>A (p.Ser181Thr) c.172T>A (p.Ser58Thr) n.412T>A c.*320T>A (n.*320T>A) n.739T>A n.541T>A | |
| 13 | g.32326523T>C | CA387757858 | BRCA2 | c.541T>C (p.Ser181Pro) c.172T>C (p.Ser58Pro) n.412T>C c.*320T>C (n.*320T>C) n.739T>C n.541T>C | dbSNP |
| 13 | g.32326523T>G | CA387757860 | BRCA2 | c.541T>G (p.Ser181Ala) c.172T>G (p.Ser58Ala) n.412T>G c.*320T>G (n.*320T>G) n.739T>G n.541T>G | |
| 13 | g.32326523_32326524delinsTC | CA2082751866 | BRCA2 | c.541_542delinsTC (p.Ser181=) c.172_173delinsTC (p.Ser58=) n.412_413delinsTC c.*320_*321delinsTC (n.*320_*321delinsTC) n.739_740delinsTC n.541_542delinsTC |