Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32359467_32364093del | CA2580087377 | BRCA2 | c.7805+1538_8331+560del c.7436+1538_7962+560del c.272+1538_798+560del c.7805+1538_8339+560del c.370+1538_896+560del c.7709+1538_8235+560del | ClinVar |
13 | g.32363362_32363398dup | CA10589469 | BRCA2 | c.8160_8196dup (p.Asp2733ThrfsTer9) c.7791_7827dup (p.Asp2610ThrfsTer9) c.627_663dup (p.Asp222ThrfsTer9) c.8168_8204dup (n.8168_8204dup) c.725_761dup c.8064_8100dup (p.Asp2701ThrfsTer9) | ClinVar dbSNP |
13 | g.32363370A= | CA2082835912 | BRCA2 | c.8168A= (p.Asp2723=) c.7799A= (p.Asp2600=) c.635A= (p.Asp212=) c.8176A= (n.8176A=) c.733A= c.8072A= (p.Asp2691=) | |
13 | g.32363370A>C | CA025483 | BRCA2 | c.8168A>C (p.Asp2723Ala) c.7799A>C (p.Asp2600Ala) c.635A>C (p.Asp212Ala) c.8176A>C (n.8176A>C) c.733A>C c.8072A>C (p.Asp2691Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363370A>G | CA025484 | BRCA2 | c.8168A>G (p.Asp2723Gly) c.7799A>G (p.Asp2600Gly) c.635A>G (p.Asp212Gly) c.8176A>G (n.8176A>G) c.733A>G c.8072A>G (p.Asp2691Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32363370A>T | CA025485 | BRCA2 | c.8168A>T (p.Asp2723Val) c.7799A>T (p.Asp2600Val) c.635A>T (p.Asp212Val) c.8176A>T (n.8176A>T) c.733A>T c.8072A>T (p.Asp2691Val) | ClinVar dbSNP gnomAD v4 |
13 | g.32363371T>A | CA16614371 | BRCA2 | c.8169T>A (p.Asp2723Glu) c.7800T>A (p.Asp2600Glu) c.636T>A (p.Asp212Glu) c.8177T>A (n.8177T>A) c.734T>A c.8073T>A (p.Asp2691Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363371T>C | CA483439587 | BRCA2 | c.8169T>C (p.Asp2723=) c.7800T>C (p.Asp2600=) c.636T>C (p.Asp212=) c.8177T>C (n.8177T>C) c.734T>C c.8073T>C (p.Asp2691=) | ClinVar dbSNP gnomAD v4 |
13 | g.32363371T>G | CA387749594 | BRCA2 | c.8169T>G (p.Asp2723Glu) c.7800T>G (p.Asp2600Glu) c.636T>G (p.Asp212Glu) c.8177T>G (n.8177T>G) c.734T>G c.8073T>G (p.Asp2691Glu) | |
13 | g.32363371T= | CA2082835924 | BRCA2 | c.8169T= (p.Asp2723=) c.7800T= (p.Asp2600=) c.636T= (p.Asp212=) c.8177T= (n.8177T=) c.734T= c.8073T= (p.Asp2691=) | |
13 | g.32363371_32363372delinsTG | CA2082835931 | BRCA2 | c.8169_8170delinsTG (p.Asp2723=) c.7800_7801delinsTG (p.Asp2600=) c.636_637delinsTG (p.Asp212=) c.8177_8178delinsTG (n.8177_8178delinsTG) c.734_735delinsTG c.8073_8074delinsTG (p.Asp2691=) | |
13 | g.32363374_32363377dup | CA025489 | BRCA2 | c.8172_8175dup (p.Tyr2726ValfsTer5) c.7803_7806dup (p.Tyr2603ValfsTer5) c.639_642dup (p.Tyr215ValfsTer5) c.8180_8183dup (n.8180_8183dup) c.737_740dup c.8076_8079dup (p.Tyr2694ValfsTer5) | ClinVar dbSNP |
13 | g.32363372G>A | CA387749597 | BRCA2 | c.8170G>A (p.Gly2724Arg) c.7801G>A (p.Gly2601Arg) c.637G>A (p.Gly213Arg) c.8178G>A (n.8178G>A) c.735G>A c.8074G>A (p.Gly2692Arg) | ClinVar dbSNP |
13 | g.32363372G>C | CA387749599 | BRCA2 | c.8170G>C (p.Gly2724Arg) c.7801G>C (p.Gly2601Arg) c.637G>C (p.Gly213Arg) c.8178G>C (n.8178G>C) c.735G>C c.8074G>C (p.Gly2692Arg) | dbSNP |
13 | g.32363372G= | CA2082835941 | BRCA2 | c.8170G= (p.Gly2724=) c.7801G= (p.Gly2601=) c.637G= (p.Gly213=) c.8178G= (n.8178G=) c.735G= c.8074G= (p.Gly2692=) | |
13 | g.32363372G>T | CA16607488 | BRCA2 | c.8170G>T (p.Gly2724Trp) c.7801G>T (p.Gly2601Trp) c.637G>T (p.Gly213Trp) c.8178G>T (n.8178G>T) c.735G>T c.8074G>T (p.Gly2692Trp) | ClinVar dbSNP gnomAD v4 |
13 | g.32363374del | CA919242797 | BRCA2 | c.8172del (p.Trp2725GlyfsTer8) c.7803del (p.Trp2602GlyfsTer8) c.639del (p.Trp214GlyfsTer8) c.8180del (n.8180del) c.737del c.8076del (p.Trp2693GlyfsTer8) | ClinVar dbSNP |
13 | g.32363373G>A | CA387749602 | BRCA2 | c.8171G>A (p.Gly2724Glu) c.7802G>A (p.Gly2601Glu) c.638G>A (p.Gly213Glu) c.8179G>A (n.8179G>A) c.736G>A c.8075G>A (p.Gly2692Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363373G>C | CA387749604 | BRCA2 | c.8171G>C (p.Gly2724Ala) c.7802G>C (p.Gly2601Ala) c.638G>C (p.Gly213Ala) c.8179G>C (n.8179G>C) c.736G>C c.8075G>C (p.Gly2692Ala) | dbSNP gnomAD v4 |
13 | g.32363373G= | CA2082835944 | BRCA2 | c.8171G= (p.Gly2724=) c.7802G= (p.Gly2601=) c.638G= (p.Gly213=) c.8179G= (n.8179G=) c.736G= c.8075G= (p.Gly2692=) | |
13 | g.32363373G>T | CA025486 | BRCA2 | c.8171G>T (p.Gly2724Val) c.7802G>T (p.Gly2601Val) c.638G>T (p.Gly213Val) c.8179G>T (n.8179G>T) c.736G>T c.8075G>T (p.Gly2692Val) | ClinVar dbSNP |
13 | g.32363373_32363383delinsGGTGGTATGCT | CA2082835951 | BRCA2 | c.8171_8181delinsGGTGGTATGCT (p.Gly2724=) c.7802_7812delinsGGTGGTATGCT (p.Gly2601=) c.638_648delinsGGTGGTATGCT (p.Gly213=) c.8179_8189delinsGGTGGTATGCT (n.8179_8189delinsGGTGGTATGCT) c.736_746delinsGGTGGTATGCT c.8075_8085delinsGGTGGTATGCT (p.Gly2692=) | |
13 | g.32363374G>A | CA10579770 | BRCA2 | c.8172G>A (p.Gly2724=) c.7803G>A (p.Gly2601=) c.639G>A (p.Gly213=) c.8180G>A (n.8180G>A) c.737G>A c.8076G>A (p.Gly2692=) | ClinVar dbSNP |
13 | g.32363374G>C | CA483439588 | BRCA2 | c.8172G>C (p.Gly2724=) c.7803G>C (p.Gly2601=) c.639G>C (p.Gly213=) c.8180G>C (n.8180G>C) c.737G>C c.8076G>C (p.Gly2692=) | dbSNP |
13 | g.32363374G= | CA2082835968 | BRCA2 | c.8172G= (p.Gly2724=) c.7803G= (p.Gly2601=) c.639G= (p.Gly213=) c.8180G= (n.8180G=) c.737G= c.8076G= (p.Gly2692=) | |
13 | g.32363374G>T | CA483439589 | BRCA2 | c.8172G>T (p.Gly2724=) c.7803G>T (p.Gly2601=) c.639G>T (p.Gly213=) c.8180G>T (n.8180G>T) c.737G>T c.8076G>T (p.Gly2692=) | ClinVar dbSNP |
13 | g.32363376_32363385del | CA2082835956 | BRCA2 | c.8174_8183del (p.Trp2725LeufsTer5) c.7805_7814del (p.Trp2602LeufsTer5) c.641_650del (p.Trp214LeufsTer5) c.8182_8191del (n.8182_8191del) c.739_748del c.8078_8087del (p.Trp2693LeufsTer5) | dbSNP |
13 | g.32363375T>A | CA387749608 | BRCA2 | c.8173T>A (p.Trp2725Arg) c.7804T>A (p.Trp2602Arg) c.640T>A (p.Trp214Arg) c.8181T>A (n.8181T>A) c.738T>A c.8077T>A (p.Trp2693Arg) | |
13 | g.32363375T>C | CA387749610 | BRCA2 | c.8173T>C (p.Trp2725Arg) c.7804T>C (p.Trp2602Arg) c.640T>C (p.Trp214Arg) c.8181T>C (n.8181T>C) c.738T>C c.8077T>C (p.Trp2693Arg) | ClinVar |
13 | g.32363375T>G | CA387749612 | BRCA2 | c.8173T>G (p.Trp2725Gly) c.7804T>G (p.Trp2602Gly) c.640T>G (p.Trp214Gly) c.8181T>G (n.8181T>G) c.738T>G c.8077T>G (p.Trp2693Gly) | ClinVar dbSNP |
13 | g.32363375_32363384delinsTGGTATGCTG | CA2082835976 | BRCA2 | c.8173_8182delinsTGGTATGCTG (p.Trp2725=) c.7804_7813delinsTGGTATGCTG (p.Trp2602=) c.640_649delinsTGGTATGCTG (p.Trp214=) c.8181_8190delinsTGGTATGCTG (n.8181_8190delinsTGGTATGCTG) c.738_747delinsTGGTATGCTG c.8077_8086delinsTGGTATGCTG (p.Trp2693=) | |
13 | g.32363375_32363387delinsTGGTATGCTGTTA | CA2082835974 | BRCA2 | c.8173_8185delinsTGGTATGCTGTTA (p.Trp2725=) c.7804_7816delinsTGGTATGCTGTTA (p.Trp2602=) c.640_652delinsTGGTATGCTGTTA (p.Trp214=) c.8181_8193delinsTGGTATGCTGTTA (n.8181_8193delinsTGGTATGCTGTTA) c.738_750delinsTGGTATGCTGTTA c.8077_8089delinsTGGTATGCTGTTA (p.Trp2693=) | |
13 | g.32363376G>A | CA025488 | BRCA2 | c.8174G>A (p.Trp2725Ter) c.7805G>A (p.Trp2602Ter) c.641G>A (p.Trp214Ter) c.8182G>A (n.8182G>A) c.739G>A c.8078G>A (p.Trp2693Ter) | ClinVar dbSNP |
13 | g.32363376G>C | CA387749616 | BRCA2 | c.8174G>C (p.Trp2725Ser) c.7805G>C (p.Trp2602Ser) c.641G>C (p.Trp214Ser) c.8182G>C (n.8182G>C) c.739G>C c.8078G>C (p.Trp2693Ser) | dbSNP |
13 | g.32363376G= | CA2082835989 | BRCA2 | c.8174G= (p.Trp2725=) c.7805G= (p.Trp2602=) c.641G= (p.Trp214=) c.8182G= (n.8182G=) c.739G= c.8078G= (p.Trp2693=) | |
13 | g.32363376G>T | CA387749613 | BRCA2 | c.8174G>T (p.Trp2725Leu) c.7805G>T (p.Trp2602Leu) c.641G>T (p.Trp214Leu) c.8182G>T (n.8182G>T) c.739G>T c.8078G>T (p.Trp2693Leu) | ClinVar dbSNP |
13 | g.32363377del | CA2499222321 | BRCA2 | c.8175del (p.Trp2725CysfsTer8) c.7806del (p.Trp2602CysfsTer8) c.642del (p.Trp214CysfsTer8) c.8183del (n.8183del) c.740del c.8079del (p.Trp2693CysfsTer8) | |
13 | g.32363376_32363384del | CA954700683 | BRCA2 | c.8174_8182del (p.Trp2725_Val2728delinsPhe) c.7805_7813del (p.Trp2602_Val2605delinsPhe) c.641_649del (p.Trp214_Val217delinsPhe) c.8182_8190del (n.8182_8190del) c.739_747del c.8078_8086del (p.Trp2693_Val2696delinsPhe) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363376_32363387delinsTT | CA025487 | BRCA2 | c.8174_8185delinsTT (p.Trp2725PhefsTer5) c.7805_7816delinsTT (p.Trp2602PhefsTer5) c.641_652delinsTT (p.Trp214PhefsTer5) c.8182_8193delinsTT (n.8182_8193delinsTT) c.739_750delinsTT c.8078_8089delinsTT (p.Trp2693PhefsTer5) | ClinVar dbSNP |
13 | g.32363377G>A | CA025490 | BRCA2 | c.8175G>A (p.Trp2725Ter) c.7806G>A (p.Trp2602Ter) c.642G>A (p.Trp214Ter) c.8183G>A (n.8183G>A) c.740G>A c.8079G>A (p.Trp2693Ter) | ClinVar dbSNP |
13 | g.32363377G>C | CA387749620 | BRCA2 | c.8175G>C (p.Trp2725Cys) c.7806G>C (p.Trp2602Cys) c.642G>C (p.Trp214Cys) c.8183G>C (n.8183G>C) c.740G>C c.8079G>C (p.Trp2693Cys) | dbSNP |
13 | g.32363377G= | CA2082836011 | BRCA2 | c.8175G= (p.Trp2725=) c.7806G= (p.Trp2602=) c.642G= (p.Trp214=) c.8183G= (n.8183G=) c.740G= c.8079G= (p.Trp2693=) | |
13 | g.32363377G>T | CA387749622 | BRCA2 | c.8175G>T (p.Trp2725Cys) c.7806G>T (p.Trp2602Cys) c.642G>T (p.Trp214Cys) c.8183G>T (n.8183G>T) c.740G>T c.8079G>T (p.Trp2693Cys) | dbSNP |
13 | g.32363378T>A | CA387749624 | BRCA2 | c.8176T>A (p.Tyr2726Asn) c.7807T>A (p.Tyr2603Asn) c.643T>A (p.Tyr215Asn) c.8184T>A (n.8184T>A) c.741T>A c.8080T>A (p.Tyr2694Asn) | ClinVar dbSNP gnomAD v4 |
13 | g.32363378T>C | CA387749626 | BRCA2 | c.8176T>C (p.Tyr2726His) c.7807T>C (p.Tyr2603His) c.643T>C (p.Tyr215His) c.8184T>C (n.8184T>C) c.741T>C c.8080T>C (p.Tyr2694His) | dbSNP |
13 | g.32363378T>G | CA387749628 | BRCA2 | c.8176T>G (p.Tyr2726Asp) c.7807T>G (p.Tyr2603Asp) c.643T>G (p.Tyr215Asp) c.8184T>G (n.8184T>G) c.741T>G c.8080T>G (p.Tyr2694Asp) | dbSNP |
13 | g.32363379A= | CA2082836025 | BRCA2 | c.8177A= (p.Tyr2726=) c.7808A= (p.Tyr2603=) c.644A= (p.Tyr215=) c.8185A= (n.8185A=) c.742A= c.8081A= (p.Tyr2694=) | |
13 | g.32363379A>C | CA387749630 | BRCA2 | c.8177A>C (p.Tyr2726Ser) c.7808A>C (p.Tyr2603Ser) c.644A>C (p.Tyr215Ser) c.8185A>C (n.8185A>C) c.742A>C c.8081A>C (p.Tyr2694Ser) | dbSNP |
13 | g.32363379A>G | CA025491 | BRCA2 | c.8177A>G (p.Tyr2726Cys) c.7808A>G (p.Tyr2603Cys) c.644A>G (p.Tyr215Cys) c.8185A>G (n.8185A>G) c.742A>G c.8081A>G (p.Tyr2694Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363379A>T | CA387749633 | BRCA2 | c.8177A>T (p.Tyr2726Phe) c.7808A>T (p.Tyr2603Phe) c.644A>T (p.Tyr215Phe) c.8185A>T (n.8185A>T) c.742A>T c.8081A>T (p.Tyr2694Phe) | ClinVar dbSNP |
13 | g.32363380T>A | CA10586587 | BRCA2 | c.8178T>A (p.Tyr2726Ter) c.7809T>A (p.Tyr2603Ter) c.645T>A (p.Tyr215Ter) c.8186T>A (n.8186T>A) c.743T>A c.8082T>A (p.Tyr2694Ter) | ClinVar dbSNP |
13 | g.32363380T>C | CA6941195 | BRCA2 | c.8178T>C (p.Tyr2726=) c.7809T>C (p.Tyr2603=) c.645T>C (p.Tyr215=) c.8186T>C (n.8186T>C) c.743T>C c.8082T>C (p.Tyr2694=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363380T>G | CA387749637 | BRCA2 | c.8178T>G (p.Tyr2726Ter) c.7809T>G (p.Tyr2603Ter) c.645T>G (p.Tyr215Ter) c.8186T>G (n.8186T>G) c.743T>G c.8082T>G (p.Tyr2694Ter) | |
13 | g.32363380T= | CA2082836042 | BRCA2 | c.8178T= (p.Tyr2726=) c.7809T= (p.Tyr2603=) c.645T= (p.Tyr215=) c.8186T= (n.8186T=) c.743T= c.8082T= (p.Tyr2694=) | |
13 | g.32363380_32363389delinsTGCTGTTAAG | CA2082836036 | BRCA2 | c.8178_8187delinsTGCTGTTAAG (p.Tyr2726=) c.7809_7818delinsTGCTGTTAAG (p.Tyr2603=) c.645_654delinsTGCTGTTAAG (p.Tyr215=) c.8186_8195delinsTGCTGTTAAG (n.8186_8195delinsTGCTGTTAAG) c.743_752delinsTGCTGTTAAG c.8082_8091delinsTGCTGTTAAG (p.Tyr2694=) | |
13 | g.32363381G>A | CA387749643 | BRCA2 | c.8179G>A (p.Ala2727Thr) c.7810G>A (p.Ala2604Thr) c.646G>A (p.Ala216Thr) c.8187G>A (n.8187G>A) c.744G>A c.8083G>A (p.Ala2695Thr) | ClinVar dbSNP |
13 | g.32363381G>C | CA387749640 | BRCA2 | c.8179G>C (p.Ala2727Pro) c.7810G>C (p.Ala2604Pro) c.646G>C (p.Ala216Pro) c.8187G>C (n.8187G>C) c.744G>C c.8083G>C (p.Ala2695Pro) | dbSNP |
13 | g.32363381G= | CA2082836056 | BRCA2 | c.8179G= (p.Ala2727=) c.7810G= (p.Ala2604=) c.646G= (p.Ala216=) c.8187G= (n.8187G=) c.744G= c.8083G= (p.Ala2695=) | |
13 | g.32363381G>T | CA025492 | BRCA2 | c.8179G>T (p.Ala2727Ser) c.7810G>T (p.Ala2604Ser) c.646G>T (p.Ala216Ser) c.8187G>T (n.8187G>T) c.744G>T c.8083G>T (p.Ala2695Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363383_32363391del | CA025493 | BRCA2 | c.8181_8189del (p.Val2728_Ala2730del) c.7812_7820del (p.Val2605_Ala2607del) c.648_656del (p.Val217_Ala219del) c.8189_8197del (n.8189_8197del) c.746_754del c.8085_8093del (p.Val2696_Ala2698del) | ClinVar dbSNP |
13 | g.32363382C>A | CA387749646 | BRCA2 | c.8180C>A (p.Ala2727Asp) c.7811C>A (p.Ala2604Asp) c.647C>A (p.Ala216Asp) c.8188C>A (n.8188C>A) c.745C>A c.8084C>A (p.Ala2695Asp) | dbSNP |
13 | g.32363382C= | CA2082836066 | BRCA2 | c.8180C= (p.Ala2727=) c.7811C= (p.Ala2604=) c.647C= (p.Ala216=) c.8188C= (n.8188C=) c.745C= c.8084C= (p.Ala2695=) | |
13 | g.32363382C>G | CA10586083 | BRCA2 | c.8180C>G (p.Ala2727Gly) c.7811C>G (p.Ala2604Gly) c.647C>G (p.Ala216Gly) c.8188C>G (n.8188C>G) c.745C>G c.8084C>G (p.Ala2695Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32363382C>T | CA387749648 | BRCA2 | c.8180C>T (p.Ala2727Val) c.7811C>T (p.Ala2604Val) c.647C>T (p.Ala216Val) c.8188C>T (n.8188C>T) c.745C>T c.8084C>T (p.Ala2695Val) | ClinVar dbSNP |
13 | g.32363383del | CA2695199720 | BRCA2 | c.8181del (p.Val2728LeufsTer5) c.7812del (p.Val2605LeufsTer5) c.648del (p.Val217LeufsTer5) c.8189del (n.8189del) c.746del c.8085del (p.Val2696LeufsTer5) | ClinVar |
13 | g.32363383T>A | CA483439593 | BRCA2 | c.8181T>A (p.Ala2727=) c.7812T>A (p.Ala2604=) c.648T>A (p.Ala216=) c.8189T>A (n.8189T>A) c.746T>A c.8085T>A (p.Ala2695=) | dbSNP |
13 | g.32363383T>C | CA483439594 | BRCA2 | c.8181T>C (p.Ala2727=) c.7812T>C (p.Ala2604=) c.648T>C (p.Ala216=) c.8189T>C (n.8189T>C) c.746T>C c.8085T>C (p.Ala2695=) | |
13 | g.32363383T>G | CA483439595 | BRCA2 | c.8181T>G (p.Ala2727=) c.7812T>G (p.Ala2604=) c.648T>G (p.Ala216=) c.8189T>G (n.8189T>G) c.746T>G c.8085T>G (p.Ala2695=) | |
13 | g.32363384G>A | CA025494 | BRCA2 | c.8182G>A (p.Val2728Ile) c.7813G>A (p.Val2605Ile) c.649G>A (p.Val217Ile) c.8190G>A (n.8190G>A) c.747G>A c.8086G>A (p.Val2696Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363384G>C | CA025495 | BRCA2 | c.8182G>C (p.Val2728Leu) c.7813G>C (p.Val2605Leu) c.649G>C (p.Val217Leu) c.8190G>C (n.8190G>C) c.747G>C c.8086G>C (p.Val2696Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363384G= | CA2082836077 | BRCA2 | c.8182G= (p.Val2728=) c.7813G= (p.Val2605=) c.649G= (p.Val217=) c.8190G= (n.8190G=) c.747G= c.8086G= (p.Val2696=) | |
13 | g.32363384G>T | CA387749652 | BRCA2 | c.8182G>T (p.Val2728Phe) c.7813G>T (p.Val2605Phe) c.649G>T (p.Val217Phe) c.8190G>T (n.8190G>T) c.747G>T c.8086G>T (p.Val2696Phe) | ClinVar |
13 | g.32363385T>A | CA387749655 | BRCA2 | c.8183T>A (p.Val2728Asp) c.7814T>A (p.Val2605Asp) c.650T>A (p.Val217Asp) c.8191T>A (n.8191T>A) c.748T>A c.8087T>A (p.Val2696Asp) | dbSNP |
13 | g.32363385T>C | CA025496 | BRCA2 | c.8183T>C (p.Val2728Ala) c.7814T>C (p.Val2605Ala) c.650T>C (p.Val217Ala) c.8191T>C (n.8191T>C) c.748T>C c.8087T>C (p.Val2696Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363385T>G | CA387749657 | BRCA2 | c.8183T>G (p.Val2728Gly) c.7814T>G (p.Val2605Gly) c.650T>G (p.Val217Gly) c.8191T>G (n.8191T>G) c.748T>G c.8087T>G (p.Val2696Gly) | dbSNP |
13 | g.32363385T= | CA2082836093 | BRCA2 | c.8183T= (p.Val2728=) c.7814T= (p.Val2605=) c.650T= (p.Val217=) c.8191T= (n.8191T=) c.748T= c.8087T= (p.Val2696=) | |
13 | g.32363386T>A | CA483439597 | BRCA2 | c.8184T>A (p.Val2728=) c.7815T>A (p.Val2605=) c.651T>A (p.Val217=) c.8192T>A (n.8192T>A) c.749T>A c.8088T>A (p.Val2696=) | |
13 | g.32363386T>C | CA483439598 | BRCA2 | c.8184T>C (p.Val2728=) c.7815T>C (p.Val2605=) c.651T>C (p.Val217=) c.8192T>C (n.8192T>C) c.749T>C c.8088T>C (p.Val2696=) | ClinVar dbSNP |
13 | g.32363386T>G | CA483439599 | BRCA2 | c.8184T>G (p.Val2728=) c.7815T>G (p.Val2605=) c.651T>G (p.Val217=) c.8192T>G (n.8192T>G) c.749T>G c.8088T>G (p.Val2696=) | |
13 | g.32363386_32363387delinsTA | CA2082836098 | BRCA2 | c.8184_8185delinsTA (p.Val2728=) c.7815_7816delinsTA (p.Val2605=) c.651_652delinsTA (p.Val217=) c.8192_8193delinsTA (n.8192_8193delinsTA) c.749_750delinsTA c.8088_8089delinsTA (p.Val2696=) | |
13 | g.32363387A= | CA2082836105 | BRCA2 | c.8185A= (p.Lys2729=) c.7816A= (p.Lys2606=) c.652A= (p.Lys218=) c.8193A= (n.8193A=) c.750A= c.8089A= (p.Lys2697=) | |
13 | g.32363387A>C | CA387749660 | BRCA2 | c.8185A>C (p.Lys2729Gln) c.7816A>C (p.Lys2606Gln) c.652A>C (p.Lys218Gln) c.8193A>C (n.8193A>C) c.750A>C c.8089A>C (p.Lys2697Gln) | |
13 | g.32363387A>G | CA387749662 | BRCA2 | c.8185A>G (p.Lys2729Glu) c.7816A>G (p.Lys2606Glu) c.652A>G (p.Lys218Glu) c.8193A>G (n.8193A>G) c.750A>G c.8089A>G (p.Lys2697Glu) | |
13 | g.32363387A>T | CA387749663 | BRCA2 | c.8185A>T (p.Lys2729Ter) c.7816A>T (p.Lys2606Ter) c.652A>T (p.Lys218Ter) c.8193A>T (n.8193A>T) c.750A>T c.8089A>T (p.Lys2697Ter) | dbSNP |
13 | g.32363388del | CA954700713 | BRCA2 | c.8186del (p.Lys2729ArgfsTer4) c.7817del (p.Lys2606ArgfsTer4) c.653del (p.Lys218ArgfsTer4) c.8194del (n.8194del) c.751del c.8090del (p.Lys2697ArgfsTer4) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363388A= | CA2082836107 | BRCA2 | c.8186A= (p.Lys2729=) c.7817A= (p.Lys2606=) c.653A= (p.Lys218=) c.8194A= (n.8194A=) c.751A= c.8090A= (p.Lys2697=) | |
13 | g.32363388A>C | CA387749668 | BRCA2 | c.8186A>C (p.Lys2729Thr) c.7817A>C (p.Lys2606Thr) c.653A>C (p.Lys218Thr) c.8194A>C (n.8194A>C) c.751A>C c.8090A>C (p.Lys2697Thr) | |
13 | g.32363388A>G | CA6941196 | BRCA2 | c.8186A>G (p.Lys2729Arg) c.7817A>G (p.Lys2606Arg) c.653A>G (p.Lys218Arg) c.8194A>G (n.8194A>G) c.751A>G c.8090A>G (p.Lys2697Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363388A>T | CA387749666 | BRCA2 | c.8186A>T (p.Lys2729Met) c.7817A>T (p.Lys2606Met) c.653A>T (p.Lys218Met) c.8194A>T (n.8194A>T) c.751A>T c.8090A>T (p.Lys2697Met) | |
13 | g.32363389G>A | CA025497 | BRCA2 | c.8187G>A (p.Lys2729=) c.7818G>A (p.Lys2606=) c.654G>A (p.Lys218=) c.8195G>A (n.8195G>A) c.752G>A c.8091G>A (p.Lys2697=) | ClinVar dbSNP gnomAD v4 |
13 | g.32363389G>C | CA387749672 | BRCA2 | c.8187G>C (p.Lys2729Asn) c.7818G>C (p.Lys2606Asn) c.654G>C (p.Lys218Asn) c.8195G>C (n.8195G>C) c.752G>C c.8091G>C (p.Lys2697Asn) | dbSNP |
13 | g.32363389G= | CA2082836122 | BRCA2 | c.8187G= (p.Lys2729=) c.7818G= (p.Lys2606=) c.654G= (p.Lys218=) c.8195G= (n.8195G=) c.752G= c.8091G= (p.Lys2697=) | |
13 | g.32363389G>T | CA025498 | BRCA2 | c.8187G>T (p.Lys2729Asn) c.7818G>T (p.Lys2606Asn) c.654G>T (p.Lys218Asn) c.8195G>T (n.8195G>T) c.752G>T c.8091G>T (p.Lys2697Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363390G>A | CA387749675 | BRCA2 | c.8188G>A (p.Ala2730Thr) c.7819G>A (p.Ala2607Thr) c.655G>A (p.Ala219Thr) c.8196G>A (n.8196G>A) c.753G>A c.8092G>A (p.Ala2698Thr) | ClinVar dbSNP |
13 | g.32363390G>C | CA025499 | BRCA2 | c.8188G>C (p.Ala2730Pro) c.7819G>C (p.Ala2607Pro) c.655G>C (p.Ala219Pro) c.8196G>C (n.8196G>C) c.753G>C c.8092G>C (p.Ala2698Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363390G= | CA2082836131 | BRCA2 | c.8188G= (p.Ala2730=) c.7819G= (p.Ala2607=) c.655G= (p.Ala219=) c.8196G= (n.8196G=) c.753G= c.8092G= (p.Ala2698=) | |
13 | g.32363390G>T | CA387749677 | BRCA2 | c.8188G>T (p.Ala2730Ser) c.7819G>T (p.Ala2607Ser) c.655G>T (p.Ala219Ser) c.8196G>T (n.8196G>T) c.753G>T c.8092G>T (p.Ala2698Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.32363390_32363391delinsGC | CA2082836140 | BRCA2 | c.8188_8189delinsGC (p.Ala2730=) c.7819_7820delinsGC (p.Ala2607=) c.655_656delinsGC (p.Ala219=) c.8196_8197delinsGC (n.8196_8197delinsGC) c.753_754delinsGC c.8092_8093delinsGC (p.Ala2698=) | |
13 | g.32363391C>A | CA387749680 | BRCA2 | c.8189C>A (p.Ala2730Asp) c.7820C>A (p.Ala2607Asp) c.656C>A (p.Ala219Asp) c.8197C>A (n.8197C>A) c.754C>A c.8093C>A (p.Ala2698Asp) | dbSNP |
13 | g.32363391C= | CA2082836152 | BRCA2 | c.8189C= (p.Ala2730=) c.7820C= (p.Ala2607=) c.656C= (p.Ala219=) c.8197C= (n.8197C=) c.754C= c.8093C= (p.Ala2698=) | |
13 | g.32363391C>G | CA387749682 | BRCA2 | c.8189C>G (p.Ala2730Gly) c.7820C>G (p.Ala2607Gly) c.656C>G (p.Ala219Gly) c.8197C>G (n.8197C>G) c.754C>G c.8093C>G (p.Ala2698Gly) | ClinVar dbSNP |
13 | g.32363391C>T | CA025500 | BRCA2 | c.8189C>T (p.Ala2730Val) c.7820C>T (p.Ala2607Val) c.656C>T (p.Ala219Val) c.8197C>T (n.8197C>T) c.754C>T c.8093C>T (p.Ala2698Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363393del | CA658798132 | BRCA2 | c.8191del (p.Gln2731SerfsTer2) c.7822del (p.Gln2608SerfsTer2) c.658del (p.Gln220SerfsTer2) c.8199del (n.8199del) c.756del c.8095del (p.Gln2699SerfsTer2) | ClinVar dbSNP |
13 | g.32363392C>A | CA483439603 | BRCA2 | c.8190C>A (p.Ala2730=) c.7821C>A (p.Ala2607=) c.657C>A (p.Ala219=) c.8198C>A (n.8198C>A) c.755C>A c.8094C>A (p.Ala2698=) | dbSNP |
13 | g.32363392C>G | CA483439604 | BRCA2 | c.8190C>G (p.Ala2730=) c.7821C>G (p.Ala2607=) c.657C>G (p.Ala219=) c.8198C>G (n.8198C>G) c.755C>G c.8094C>G (p.Ala2698=) | dbSNP |
13 | g.32363392C>T | CA483439605 | BRCA2 | c.8190C>T (p.Ala2730=) c.7821C>T (p.Ala2607=) c.657C>T (p.Ala219=) c.8198C>T (n.8198C>T) c.755C>T c.8094C>T (p.Ala2698=) | dbSNP |
13 | g.32363393C>A | CA387749685 | BRCA2 | c.8191C>A (p.Gln2731Lys) c.7822C>A (p.Gln2608Lys) c.658C>A (p.Gln220Lys) c.8199C>A (n.8199C>A) c.756C>A c.8095C>A (p.Gln2699Lys) | ClinVar |
13 | g.32363393C= | CA2082836158 | BRCA2 | c.8191C= (p.Gln2731=) c.7822C= (p.Gln2608=) c.658C= (p.Gln220=) c.8199C= (n.8199C=) c.756C= c.8095C= (p.Gln2699=) | |
13 | g.32363393C>G | CA10583138 | BRCA2 | c.8191C>G (p.Gln2731Glu) c.7822C>G (p.Gln2608Glu) c.658C>G (p.Gln220Glu) c.8199C>G (n.8199C>G) c.756C>G c.8095C>G (p.Gln2699Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32363393C>T | CA025503 | BRCA2 | c.8191C>T (p.Gln2731Ter) c.7822C>T (p.Gln2608Ter) c.658C>T (p.Gln220Ter) c.8199C>T (n.8199C>T) c.756C>T c.8095C>T (p.Gln2699Ter) | ClinVar dbSNP |
13 | g.32363394A= | CA2082836167 | BRCA2 | c.8192A= (p.Gln2731=) c.7823A= (p.Gln2608=) c.659A= (p.Gln220=) c.8200A= (n.8200A=) c.757A= c.8096A= (p.Gln2699=) | |
13 | g.32363394A>C | CA387749689 | BRCA2 | c.8192A>C (p.Gln2731Pro) c.7823A>C (p.Gln2608Pro) c.659A>C (p.Gln220Pro) c.8200A>C (n.8200A>C) c.757A>C c.8096A>C (p.Gln2699Pro) | |
13 | g.32363394A>G | CA6941197 | BRCA2 | c.8192A>G (p.Gln2731Arg) c.7823A>G (p.Gln2608Arg) c.659A>G (p.Gln220Arg) c.8200A>G (n.8200A>G) c.757A>G c.8096A>G (p.Gln2699Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363394A>T | CA387749691 | BRCA2 | c.8192A>T (p.Gln2731Leu) c.7823A>T (p.Gln2608Leu) c.659A>T (p.Gln220Leu) c.8200A>T (n.8200A>T) c.757A>T c.8096A>T (p.Gln2699Leu) | dbSNP |
13 | g.32363395G>A | CA483439606 | BRCA2 | c.8193G>A (p.Gln2731=) c.7824G>A (p.Gln2608=) c.660G>A (p.Gln220=) c.8201G>A (n.8201G>A) c.758G>A c.8097G>A (p.Gln2699=) | ClinVar dbSNP gnomAD v4 |
13 | g.32363395G>C | CA387749694 | BRCA2 | c.8193G>C (p.Gln2731His) c.7824G>C (p.Gln2608His) c.660G>C (p.Gln220His) c.8201G>C (n.8201G>C) c.758G>C c.8097G>C (p.Gln2699His) | ClinVar dbSNP |
13 | g.32363395G= | CA2082836181 | BRCA2 | c.8193G= (p.Gln2731=) c.7824G= (p.Gln2608=) c.660G= (p.Gln220=) c.8201G= (n.8201G=) c.758G= c.8097G= (p.Gln2699=) | |
13 | g.32363395G>T | CA387749695 | BRCA2 | c.8193G>T (p.Gln2731His) c.7824G>T (p.Gln2608His) c.660G>T (p.Gln220His) c.8201G>T (n.8201G>T) c.758G>T c.8097G>T (p.Gln2699His) | |
13 | g.32363395_32363403delinsGTTAGATCC | CA2082836178 | BRCA2 | c.8193_8201delinsGTTAGATCC (p.Gln2731=) c.7824_7832delinsGTTAGATCC (p.Gln2608=) c.660_668delinsGTTAGATCC (p.Gln220=) c.8201_8209delinsGTTAGATCC (n.8201_8209delinsGTTAGATCC) c.758_766delinsGTTAGATCC c.8097_8105delinsGTTAGATCC (p.Gln2699=) | |
13 | g.32363396T>A | CA387749697 | BRCA2 | c.8194T>A (p.Leu2732Ile) c.7825T>A (p.Leu2609Ile) c.661T>A (p.Leu221Ile) c.8202T>A (n.8202T>A) c.759T>A c.8098T>A (p.Leu2700Ile) | dbSNP |
13 | g.32363396T>C | CA16613955 | BRCA2 | c.8194T>C (p.Leu2732=) c.7825T>C (p.Leu2609=) c.661T>C (p.Leu221=) c.8202T>C (n.8202T>C) c.759T>C c.8098T>C (p.Leu2700=) | ClinVar dbSNP |
13 | g.32363396T>G | CA387749699 | BRCA2 | c.8194T>G (p.Leu2732Val) c.7825T>G (p.Leu2609Val) c.661T>G (p.Leu221Val) c.8202T>G (n.8202T>G) c.759T>G c.8098T>G (p.Leu2700Val) | ClinVar dbSNP |
13 | g.32363396T= | CA2082836196 | BRCA2 | c.8194T= (p.Leu2732=) c.7825T= (p.Leu2609=) c.661T= (p.Leu221=) c.8202T= (n.8202T=) c.759T= c.8098T= (p.Leu2700=) | |
13 | g.32363397_32363404del | CA10589472 | BRCA2 | c.8195_8202del (p.Leu2732SerfsTer29) c.7826_7833del (p.Leu2609SerfsTer29) c.662_669del (p.Leu221SerfsTer29) c.8203_8210del (n.8203_8210del) c.760_767del c.8099_8106del (p.Leu2700SerfsTer29) | ClinVar dbSNP |
13 | g.32363397T>A | CA10589471 | BRCA2 | c.8195T>A (p.Leu2732Ter) c.7826T>A (p.Leu2609Ter) c.662T>A (p.Leu221Ter) c.8203T>A (n.8203T>A) c.760T>A c.8099T>A (p.Leu2700Ter) | ClinVar dbSNP |
13 | g.32363397T>C | CA387749702 | BRCA2 | c.8195T>C (p.Leu2732Ser) c.7826T>C (p.Leu2609Ser) c.662T>C (p.Leu221Ser) c.8203T>C (n.8203T>C) c.760T>C c.8099T>C (p.Leu2700Ser) | gnomAD v4 |
13 | g.32363397T>G | CA025504 | BRCA2 | c.8195T>G (p.Leu2732Ter) c.7826T>G (p.Leu2609Ter) c.662T>G (p.Leu221Ter) c.8203T>G (n.8203T>G) c.760T>G c.8099T>G (p.Leu2700Ter) | ClinVar dbSNP |
13 | g.32363397T= | CA2082836206 | BRCA2 | c.8195T= (p.Leu2732=) c.7826T= (p.Leu2609=) c.662T= (p.Leu221=) c.8203T= (n.8203T=) c.760T= c.8099T= (p.Leu2700=) | |
13 | g.32363398A= | CA2082836213 | BRCA2 | c.8196A= (p.Leu2732=) c.7827A= (p.Leu2609=) c.663A= (p.Leu221=) c.8204A= (n.8204A=) c.761A= c.8100A= (p.Leu2700=) | |
13 | g.32363398A>C | CA387749707 | BRCA2 | c.8196A>C (p.Leu2732Phe) c.7827A>C (p.Leu2609Phe) c.663A>C (p.Leu221Phe) c.8204A>C (n.8204A>C) c.761A>C c.8100A>C (p.Leu2700Phe) | |
13 | g.32363398A>G | CA483439608 | BRCA2 | c.8196A>G (p.Leu2732=) c.7827A>G (p.Leu2609=) c.663A>G (p.Leu221=) c.8204A>G (n.8204A>G) c.761A>G c.8100A>G (p.Leu2700=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363398A>T | CA387749705 | BRCA2 | c.8196A>T (p.Leu2732Phe) c.7827A>T (p.Leu2609Phe) c.663A>T (p.Leu221Phe) c.8204A>T (n.8204A>T) c.761A>T c.8100A>T (p.Leu2700Phe) | dbSNP |
13 | g.32363399G>A | CA387749709 | BRCA2 | c.8197G>A (p.Asp2733Asn) c.7828G>A (p.Asp2610Asn) c.664G>A (p.Asp222Asn) c.8205G>A (n.8205G>A) c.762G>A c.8101G>A (p.Asp2701Asn) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363399G>C | CA387749711 | BRCA2 | c.8197G>C (p.Asp2733His) c.7828G>C (p.Asp2610His) c.664G>C (p.Asp222His) c.8205G>C (n.8205G>C) c.762G>C c.8101G>C (p.Asp2701His) | ClinVar dbSNP gnomAD v4 |
13 | g.32363399G= | CA2082836218 | BRCA2 | c.8197G= (p.Asp2733=) c.7828G= (p.Asp2610=) c.664G= (p.Asp222=) c.8205G= (n.8205G=) c.762G= c.8101G= (p.Asp2701=) | |
13 | g.32363399G>T | CA387749713 | BRCA2 | c.8197G>T (p.Asp2733Tyr) c.7828G>T (p.Asp2610Tyr) c.664G>T (p.Asp222Tyr) c.8205G>T (n.8205G>T) c.762G>T c.8101G>T (p.Asp2701Tyr) | dbSNP |
13 | g.32363400A= | CA2082836244 | BRCA2 | c.8198A= (p.Asp2733=) c.7829A= (p.Asp2610=) c.665A= (p.Asp222=) c.8206A= (n.8206A=) c.763A= c.8102A= (p.Asp2701=) | |
13 | g.32363400A>C | CA387749716 | BRCA2 | c.8198A>C (p.Asp2733Ala) c.7829A>C (p.Asp2610Ala) c.665A>C (p.Asp222Ala) c.8206A>C (n.8206A>C) c.763A>C c.8102A>C (p.Asp2701Ala) | |
13 | g.32363400A>G | CA387749717 | BRCA2 | c.8198A>G (p.Asp2733Gly) c.7829A>G (p.Asp2610Gly) c.665A>G (p.Asp222Gly) c.8206A>G (n.8206A>G) c.763A>G c.8102A>G (p.Asp2701Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32363400A>T | CA387749719 | BRCA2 | c.8198A>T (p.Asp2733Val) c.7829A>T (p.Asp2610Val) c.665A>T (p.Asp222Val) c.8206A>T (n.8206A>T) c.763A>T c.8102A>T (p.Asp2701Val) | dbSNP |
13 | g.32363400_32363410delinsATCCTCCCCTC | CA2082836223 | BRCA2 | c.8198_8208delinsATCCTCCCCTC (p.Asp2733=) c.7829_7839delinsATCCTCCCCTC (p.Asp2610=) c.665_675delinsATCCTCCCCTC (p.Asp222=) c.8206_8216delinsATCCTCCCCTC (n.8206_8216delinsATCCTCCCCTC) c.763_773delinsATCCTCCCCTC c.8102_8112delinsATCCTCCCCTC (p.Asp2701=) | |
13 | g.32363401T>A | CA387749722 | BRCA2 | c.8199T>A (p.Asp2733Glu) c.7830T>A (p.Asp2610Glu) c.666T>A (p.Asp222Glu) c.8207T>A (n.8207T>A) c.764T>A c.8103T>A (p.Asp2701Glu) | |
13 | g.32363401T>C | CA483439612 | BRCA2 | c.8199T>C (p.Asp2733=) c.7830T>C (p.Asp2610=) c.666T>C (p.Asp222=) c.8207T>C (n.8207T>C) c.764T>C c.8103T>C (p.Asp2701=) | ClinVar dbSNP |
13 | g.32363401T>G | CA387749725 | BRCA2 | c.8199T>G (p.Asp2733Glu) c.7830T>G (p.Asp2610Glu) c.666T>G (p.Asp222Glu) c.8207T>G (n.8207T>G) c.764T>G c.8103T>G (p.Asp2701Glu) | |
13 | g.32363401_32363402delinsTC | CA2082836258 | BRCA2 | c.8199_8200delinsTC (p.Asp2733=) c.7830_7831delinsTC (p.Asp2610=) c.666_667delinsTC (p.Asp222=) c.8207_8208delinsTC (n.8207_8208delinsTC) c.764_765delinsTC c.8103_8104delinsTC (p.Asp2701=) | |
13 | g.32363402_32363411del | CA025507 | BRCA2 | c.8200_8209del (p.Pro2734Ter) c.7831_7840del (p.Pro2611Ter) c.667_676del (p.Pro223Ter) c.8208_8217del (n.8208_8217del) c.765_774del c.8104_8113del (p.Pro2702Ter) | ClinVar dbSNP |
13 | g.32363402C>A | CA387749727 | BRCA2 | c.8200C>A (p.Pro2734Thr) c.7831C>A (p.Pro2611Thr) c.667C>A (p.Pro223Thr) c.8208C>A (n.8208C>A) c.765C>A c.8104C>A (p.Pro2702Thr) | dbSNP |
13 | g.32363402C>G | CA387749730 | BRCA2 | c.8200C>G (p.Pro2734Ala) c.7831C>G (p.Pro2611Ala) c.667C>G (p.Pro223Ala) c.8208C>G (n.8208C>G) c.765C>G c.8104C>G (p.Pro2702Ala) | ClinVar dbSNP |
13 | g.32363402C>T | CA387749732 | BRCA2 | c.8200C>T (p.Pro2734Ser) c.7831C>T (p.Pro2611Ser) c.667C>T (p.Pro223Ser) c.8208C>T (n.8208C>T) c.765C>T c.8104C>T (p.Pro2702Ser) | dbSNP gnomAD v4 |
13 | g.32363403del | CA10589473 | BRCA2 | c.8201del (p.Pro2734LeufsTer4) c.7832del (p.Pro2611LeufsTer4) c.668del (p.Pro223LeufsTer4) c.8209del (n.8209del) c.766del c.8105del (p.Pro2702LeufsTer4) | ClinVar dbSNP |
13 | g.32363403C>A | CA387749735 | BRCA2 | c.8201C>A (p.Pro2734His) c.7832C>A (p.Pro2611His) c.668C>A (p.Pro223His) c.8209C>A (n.8209C>A) c.766C>A c.8105C>A (p.Pro2702His) | dbSNP COSMIC COSMIC |
13 | g.32363403C= | CA2082836273 | BRCA2 | c.8201C= (p.Pro2734=) c.7832C= (p.Pro2611=) c.668C= (p.Pro223=) c.8209C= (n.8209C=) c.766C= c.8105C= (p.Pro2702=) | |
13 | g.32363403C>G | CA387749737 | BRCA2 | c.8201C>G (p.Pro2734Arg) c.7832C>G (p.Pro2611Arg) c.668C>G (p.Pro223Arg) c.8209C>G (n.8209C>G) c.766C>G c.8105C>G (p.Pro2702Arg) | dbSNP |
13 | g.32363403C>T | CA10579771 | BRCA2 | c.8201C>T (p.Pro2734Leu) c.7832C>T (p.Pro2611Leu) c.668C>T (p.Pro223Leu) c.8209C>T (n.8209C>T) c.766C>T c.8105C>T (p.Pro2702Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363404T>A | CA483439617 | BRCA2 | c.8202T>A (p.Pro2734=) c.7833T>A (p.Pro2611=) c.669T>A (p.Pro223=) c.8210T>A (n.8210T>A) c.767T>A c.8106T>A (p.Pro2702=) | |
13 | g.32363404T>C | CA483439619 | BRCA2 | c.8202T>C (p.Pro2734=) c.7833T>C (p.Pro2611=) c.669T>C (p.Pro223=) c.8210T>C (n.8210T>C) c.767T>C c.8106T>C (p.Pro2702=) | |
13 | g.32363404T>G | CA483439620 | BRCA2 | c.8202T>G (p.Pro2734=) c.7833T>G (p.Pro2611=) c.669T>G (p.Pro223=) c.8210T>G (n.8210T>G) c.767T>G c.8106T>G (p.Pro2702=) | |
13 | g.32363404_32363406delinsTCC | CA2082836280 | BRCA2 | c.8202_8204delinsTCC (p.Pro2734=) c.7833_7835delinsTCC (p.Pro2611=) c.669_671delinsTCC (p.Pro223=) c.8210_8212delinsTCC (n.8210_8212delinsTCC) c.767_769delinsTCC c.8106_8108delinsTCC (p.Pro2702=) | |
13 | g.32363405C>A | CA387749741 | BRCA2 | c.8203C>A (p.Pro2735Thr) c.7834C>A (p.Pro2612Thr) c.670C>A (p.Pro224Thr) c.8211C>A (n.8211C>A) c.768C>A c.8107C>A (p.Pro2703Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363405C= | CA2082836294 | BRCA2 | c.8203C= (p.Pro2735=) c.7834C= (p.Pro2612=) c.670C= (p.Pro224=) c.8211C= (n.8211C=) c.768C= c.8107C= (p.Pro2703=) | |
13 | g.32363405C>G | CA387749743 | BRCA2 | c.8203C>G (p.Pro2735Ala) c.7834C>G (p.Pro2612Ala) c.670C>G (p.Pro224Ala) c.8211C>G (n.8211C>G) c.768C>G c.8107C>G (p.Pro2703Ala) | ClinVar dbSNP |
13 | g.32363405C>T | CA387749745 | BRCA2 | c.8203C>T (p.Pro2735Ser) c.7834C>T (p.Pro2612Ser) c.670C>T (p.Pro224Ser) c.8211C>T (n.8211C>T) c.768C>T c.8107C>T (p.Pro2703Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363408dup | CA025513 | BRCA2 | c.8206dup (p.Leu2736ProfsTer28) c.7837dup (p.Leu2613ProfsTer28) c.673dup (p.Leu225ProfsTer28) c.8214dup (n.8214dup) c.771dup c.8110dup (p.Leu2704ProfsTer28) | ClinVar dbSNP ExAC |
13 | g.32363408del | CA645509333 | BRCA2 | c.8206del (p.Leu2736SerfsTer2) c.7837del (p.Leu2613SerfsTer2) c.673del (p.Leu225SerfsTer2) c.8214del (n.8214del) c.771del c.8110del (p.Leu2704SerfsTer2) | ClinVar dbSNP |
13 | g.32363407_32363408del | CA025511 | BRCA2 | c.8205_8206del (p.Leu2737SerfsTer26) c.7836_7837del (p.Leu2614SerfsTer26) c.672_673del (p.Leu226SerfsTer26) c.8213_8214del (n.8213_8214del) c.770_771del c.8109_8110del (p.Leu2705SerfsTer26) | ClinVar dbSNP |
13 | g.32363406C>A | CA387749749 | BRCA2 | c.8204C>A (p.Pro2735His) c.7835C>A (p.Pro2612His) c.671C>A (p.Pro224His) c.8212C>A (n.8212C>A) c.769C>A c.8108C>A (p.Pro2703His) | dbSNP |
13 | g.32363406C= | CA2082836311 | BRCA2 | c.8204C= (p.Pro2735=) c.7835C= (p.Pro2612=) c.671C= (p.Pro224=) c.8212C= (n.8212C=) c.769C= c.8108C= (p.Pro2703=) | |
13 | g.32363406C>G | CA025509 | BRCA2 | c.8204C>G (p.Pro2735Arg) c.7835C>G (p.Pro2612Arg) c.671C>G (p.Pro224Arg) c.8212C>G (n.8212C>G) c.769C>G c.8108C>G (p.Pro2703Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363406C>T | CA387749752 | BRCA2 | c.8204C>T (p.Pro2735Leu) c.7835C>T (p.Pro2612Leu) c.671C>T (p.Pro224Leu) c.8212C>T (n.8212C>T) c.769C>T c.8108C>T (p.Pro2703Leu) | ClinVar dbSNP |
13 | g.32363407C>A | CA483439623 | BRCA2 | c.8205C>A (p.Pro2735=) c.7836C>A (p.Pro2612=) c.672C>A (p.Pro224=) c.8213C>A (n.8213C>A) c.770C>A c.8109C>A (p.Pro2703=) | dbSNP |
13 | g.32363407C= | CA2082836322 | BRCA2 | c.8205C= (p.Pro2735=) c.7836C= (p.Pro2612=) c.672C= (p.Pro224=) c.8213C= (n.8213C=) c.770C= c.8109C= (p.Pro2703=) | |
13 | g.32363407C>G | CA483439625 | BRCA2 | c.8205C>G (p.Pro2735=) c.7836C>G (p.Pro2612=) c.672C>G (p.Pro224=) c.8213C>G (n.8213C>G) c.770C>G c.8109C>G (p.Pro2703=) | ClinVar dbSNP gnomAD v4 |
13 | g.32363407C>T | CA247477967 | BRCA2 | c.8205C>T (p.Pro2735=) c.7836C>T (p.Pro2612=) c.672C>T (p.Pro224=) c.8213C>T (n.8213C>T) c.770C>T c.8109C>T (p.Pro2703=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363407_32363409delinsCCT | CA2082836326 | BRCA2 | c.8205_8207delinsCCT (p.Pro2735=) c.7836_7838delinsCCT (p.Pro2612=) c.672_674delinsCCT (p.Pro224=) c.8213_8215delinsCCT (n.8213_8215delinsCCT) c.770_772delinsCCT c.8109_8111delinsCCT (p.Pro2703=) | |
13 | g.32363408C>A | CA387749754 | BRCA2 | c.8206C>A (p.Leu2736Ile) c.7837C>A (p.Leu2613Ile) c.673C>A (p.Leu225Ile) c.8214C>A (n.8214C>A) c.771C>A c.8110C>A (p.Leu2704Ile) | dbSNP |
13 | g.32363408C= | CA2082836339 | BRCA2 | c.8206C= (p.Leu2736=) c.7837C= (p.Leu2613=) c.673C= (p.Leu225=) c.8214C= (n.8214C=) c.771C= c.8110C= (p.Leu2704=) | |
13 | g.32363408C>G | CA387749755 | BRCA2 | c.8206C>G (p.Leu2736Val) c.7837C>G (p.Leu2613Val) c.673C>G (p.Leu225Val) c.8214C>G (n.8214C>G) c.771C>G c.8110C>G (p.Leu2704Val) | ClinVar dbSNP |
13 | g.32363408C>T | CA387749757 | BRCA2 | c.8206C>T (p.Leu2736Phe) c.7837C>T (p.Leu2613Phe) c.673C>T (p.Leu225Phe) c.8214C>T (n.8214C>T) c.771C>T c.8110C>T (p.Leu2704Phe) | ClinVar dbSNP gnomAD v4 |
13 | g.32363408_32363409delinsCT | CA2082836334 | BRCA2 | c.8206_8207delinsCT (p.Leu2736=) c.7837_7838delinsCT (p.Leu2613=) c.673_674delinsCT (p.Leu225=) c.8214_8215delinsCT (n.8214_8215delinsCT) c.771_772delinsCT c.8110_8111delinsCT (p.Leu2704=) | |
13 | g.32363410_32363411del | CA2082836346 | BRCA2 | c.8208_8209del (p.Leu2737SerfsTer26) c.7839_7840del (p.Leu2614SerfsTer26) c.675_676del (p.Leu226SerfsTer26) c.8216_8217del (n.8216_8217del) c.773_774del c.8112_8113del (p.Leu2705SerfsTer26) | ClinVar dbSNP |
13 | g.32363409del | CA025515 | BRCA2 | c.8207del (p.Leu2736ProfsTer2) c.7838del (p.Leu2613ProfsTer2) c.674del (p.Leu225ProfsTer2) c.8215del (n.8215del) c.772del c.8111del (p.Leu2704ProfsTer2) | ClinVar dbSNP |
13 | g.32363409T>A | CA387749760 | BRCA2 | c.8207T>A (p.Leu2736His) c.7838T>A (p.Leu2613His) c.674T>A (p.Leu225His) c.8215T>A (n.8215T>A) c.772T>A c.8111T>A (p.Leu2704His) | dbSNP |
13 | g.32363409T>C | CA387749762 | BRCA2 | c.8207T>C (p.Leu2736Pro) c.7838T>C (p.Leu2613Pro) c.674T>C (p.Leu225Pro) c.8215T>C (n.8215T>C) c.772T>C c.8111T>C (p.Leu2704Pro) | |
13 | g.32363409T>G | CA387749763 | BRCA2 | c.8207T>G (p.Leu2736Arg) c.7838T>G (p.Leu2613Arg) c.674T>G (p.Leu225Arg) c.8215T>G (n.8215T>G) c.772T>G c.8111T>G (p.Leu2704Arg) | |
13 | g.32363409T= | CA2082836361 | BRCA2 | c.8207T= (p.Leu2736=) c.7838T= (p.Leu2613=) c.674T= (p.Leu225=) c.8215T= (n.8215T=) c.772T= c.8111T= (p.Leu2704=) | |
13 | g.32363409_32363410insAG | CA658823562 | BRCA2 | c.8207_8208insAG (p.Leu2737AlafsTer2) c.7838_7839insAG (p.Leu2614AlafsTer2) c.674_675insAG (p.Leu226AlafsTer2) c.8215_8216insAG (n.8215_8216insAG) c.772_773insAG c.8111_8112insAG (p.Leu2705AlafsTer2) | ClinVar dbSNP |
13 | g.32363410C>A | CA483439627 | BRCA2 | c.8208C>A (p.Leu2736=) c.7839C>A (p.Leu2613=) c.675C>A (p.Leu225=) c.8216C>A (n.8216C>A) c.773C>A c.8112C>A (p.Leu2704=) | ClinVar dbSNP |
13 | g.32363410C= | CA2082836374 | BRCA2 | c.8208C= (p.Leu2736=) c.7839C= (p.Leu2613=) c.675C= (p.Leu225=) c.8216C= (n.8216C=) c.773C= c.8112C= (p.Leu2704=) | |
13 | g.32363410C>G | CA483439628 | BRCA2 | c.8208C>G (p.Leu2736=) c.7839C>G (p.Leu2613=) c.675C>G (p.Leu225=) c.8216C>G (n.8216C>G) c.773C>G c.8112C>G (p.Leu2704=) | |
13 | g.32363410C>T | CA483439629 | BRCA2 | c.8208C>T (p.Leu2736=) c.7839C>T (p.Leu2613=) c.675C>T (p.Leu225=) c.8216C>T (n.8216C>T) c.773C>T c.8112C>T (p.Leu2704=) | dbSNP gnomAD v4 |
13 | g.32363410_32363411insAG | CA025517 | BRCA2 | c.8208_8209insAG (p.Leu2737SerfsTer2) c.7839_7840insAG (p.Leu2614SerfsTer2) c.675_676insAG (p.Leu226SerfsTer2) c.8216_8217insAG (n.8216_8217insAG) c.773_774insAG c.8112_8113insAG (p.Leu2705SerfsTer2) | ClinVar dbSNP |
13 | g.32363411T>A | CA387749767 | BRCA2 | c.8209T>A (p.Leu2737Ile) c.7840T>A (p.Leu2614Ile) c.676T>A (p.Leu226Ile) c.8217T>A (n.8217T>A) c.774T>A c.8113T>A (p.Leu2705Ile) | dbSNP |
13 | g.32363411T>C | CA483439633 | BRCA2 | c.8209T>C (p.Leu2737=) c.7840T>C (p.Leu2614=) c.676T>C (p.Leu226=) c.8217T>C (n.8217T>C) c.774T>C c.8113T>C (p.Leu2705=) | ClinVar dbSNP |
13 | g.32363411T>G | CA387749769 | BRCA2 | c.8209T>G (p.Leu2737Val) c.7840T>G (p.Leu2614Val) c.676T>G (p.Leu226Val) c.8217T>G (n.8217T>G) c.774T>G c.8113T>G (p.Leu2705Val) | |
13 | g.32363411T= | CA2082836380 | BRCA2 | c.8209T= (p.Leu2737=) c.7840T= (p.Leu2614=) c.676T= (p.Leu226=) c.8217T= (n.8217T=) c.774T= c.8113T= (p.Leu2705=) | |
13 | g.32363480_32363481insTTTAGCTGTCTTAAAGAATGGCAGACTGACAGTTGGTCAGAAGATTATTCTTCATGGAGCAGAACTGGTGG | CA2499222322 | BRCA2 | c.8278_8279insTTTAGCTGTCTTAAAGAATGGCAGACTGACAGTTGGTCAGAAGATTATTCTTCATGGAGCAGAACTGGTGG (p.Gly2760ValfsTer2) c.7909_7910insTTTAGCTGTCTTAAAGAATGGCAGACTGACAGTTGGTCAGAAGATTATTCTTCATGGAGCAGAACTGGTGG (p.Gly2637ValfsTer2) c.745_746insTTTAGCTGTCTTAAAGAATGGCAGACTGACAGTTGGTCAGAAGATTATTCTTCATGGAGCAGAACTGGTGG (p.Gly249ValfsTer2) c.8286_8287insTTTAGCTGTCTTAAAGAATGGCAGACTGACAGTTGGTCAGAAGATTATTCTTCATGGAGCAGAACTGGTGG (n.8286_8287insTTTAGCTGTCTTAAAGAATGGCAGACTGACAGTTGGTCAGAAGATTATTCTTCATGGAGCAGAACTGGTGG) c.843_844insTTTAGCTGTCTTAAAGAATGGCAGACTGACAGTTGGTCAGAAGATTATTCTTCATGGAGCAGAACTGGTGG c.8182_8183insTTTAGCTGTCTTAAAGAATGGCAGACTGACAGTTGGTCAGAAGATTATTCTTCATGGAGCAGAACTGGTGG (p.Gly2728ValfsTer2) | ClinVar dbSNP gnomAD v4 |
13 | g.32363411_32363412insAG | CA645372932 | BRCA2 | c.8209_8210insAG (p.Leu2737Ter) c.7840_7841insAG (p.Leu2614Ter) c.676_677insAG (p.Leu226Ter) c.8217_8218insAG (n.8217_8218insAG) c.774_775insAG c.8113_8114insAG (p.Leu2705Ter) | ClinVar dbSNP |
13 | g.32363412T>A | CA387749775 | BRCA2 | c.8210T>A (p.Leu2737Ter) c.7841T>A (p.Leu2614Ter) c.677T>A (p.Leu226Ter) c.8218T>A (n.8218T>A) c.775T>A c.8114T>A (p.Leu2705Ter) | ClinVar dbSNP |
13 | g.32363412T>C | CA387749773 | BRCA2 | c.8210T>C (p.Leu2737Ser) c.7841T>C (p.Leu2614Ser) c.677T>C (p.Leu226Ser) c.8218T>C (n.8218T>C) c.775T>C c.8114T>C (p.Leu2705Ser) | ClinVar dbSNP |
13 | g.32363412T>G | CA387749771 | BRCA2 | c.8210T>G (p.Leu2737Ter) c.7841T>G (p.Leu2614Ter) c.677T>G (p.Leu226Ter) c.8218T>G (n.8218T>G) c.775T>G c.8114T>G (p.Leu2705Ter) | ClinVar dbSNP |
13 | g.32363412T= | CA2082836391 | BRCA2 | c.8210T= (p.Leu2737=) c.7841T= (p.Leu2614=) c.677T= (p.Leu226=) c.8218T= (n.8218T=) c.775T= c.8114T= (p.Leu2705=) | |
13 | g.32363413A>C | CA387749777 | BRCA2 | c.8211A>C (p.Leu2737Phe) c.7842A>C (p.Leu2614Phe) c.678A>C (p.Leu226Phe) c.8219A>C (n.8219A>C) c.776A>C c.8115A>C (p.Leu2705Phe) | |
13 | g.32363413A>G | CA483439635 | BRCA2 | c.8211A>G (p.Leu2737=) c.7842A>G (p.Leu2614=) c.678A>G (p.Leu226=) c.8219A>G (n.8219A>G) c.776A>G c.8115A>G (p.Leu2705=) | ClinVar dbSNP |
13 | g.32363413A>T | CA387749779 | BRCA2 | c.8211A>T (p.Leu2737Phe) c.7842A>T (p.Leu2614Phe) c.678A>T (p.Leu226Phe) c.8219A>T (n.8219A>T) c.776A>T c.8115A>T (p.Leu2705Phe) | dbSNP |
13 | g.32363413_32363417delinsAGCTG | CA2082836398 | BRCA2 | c.8211_8215delinsAGCTG (p.Leu2737=) c.7842_7846delinsAGCTG (p.Leu2614=) c.678_682delinsAGCTG (p.Leu226=) c.8219_8223delinsAGCTG (n.8219_8223delinsAGCTG) c.776_780delinsAGCTG c.8115_8119delinsAGCTG (p.Leu2705=) | |
13 | g.32363414G>A | CA10579772 | BRCA2 | c.8212G>A (p.Ala2738Thr) c.7843G>A (p.Ala2615Thr) c.679G>A (p.Ala227Thr) c.8220G>A (n.8220G>A) c.777G>A c.8116G>A (p.Ala2706Thr) | ClinVar dbSNP |
13 | g.32363414G>C | CA387749782 | BRCA2 | c.8212G>C (p.Ala2738Pro) c.7843G>C (p.Ala2615Pro) c.679G>C (p.Ala227Pro) c.8220G>C (n.8220G>C) c.777G>C c.8116G>C (p.Ala2706Pro) | dbSNP |
13 | g.32363414G= | CA2082836405 | BRCA2 | c.8212G= (p.Ala2738=) c.7843G= (p.Ala2615=) c.679G= (p.Ala227=) c.8220G= (n.8220G=) c.777G= c.8116G= (p.Ala2706=) | |
13 | g.32363414G>T | CA387749783 | BRCA2 | c.8212G>T (p.Ala2738Ser) c.7843G>T (p.Ala2615Ser) c.679G>T (p.Ala227Ser) c.8220G>T (n.8220G>T) c.777G>T c.8116G>T (p.Ala2706Ser) | dbSNP COSMIC COSMIC |
13 | g.32363414_32363417del | CA1139663147 | BRCA2 | c.8212_8215del (p.Ala2738SerfsTer2) c.7843_7846del (p.Ala2615SerfsTer2) c.679_682del (p.Ala227SerfsTer2) c.8220_8223del (n.8220_8223del) c.777_780del c.8116_8119del (p.Ala2706SerfsTer2) | ClinVar dbSNP |
13 | g.32363415C>A | CA387749786 | BRCA2 | c.8213C>A (p.Ala2738Asp) c.7844C>A (p.Ala2615Asp) c.680C>A (p.Ala227Asp) c.8221C>A (n.8221C>A) c.778C>A c.8117C>A (p.Ala2706Asp) | dbSNP |
13 | g.32363415C= | CA2082836426 | BRCA2 | c.8213C= (p.Ala2738=) c.7844C= (p.Ala2615=) c.680C= (p.Ala227=) c.8221C= (n.8221C=) c.778C= c.8117C= (p.Ala2706=) | |
13 | g.32363415C>G | CA387749788 | BRCA2 | c.8213C>G (p.Ala2738Gly) c.7844C>G (p.Ala2615Gly) c.680C>G (p.Ala227Gly) c.8221C>G (n.8221C>G) c.778C>G c.8117C>G (p.Ala2706Gly) | ClinVar dbSNP |
13 | g.32363415C>T | CA387749790 | BRCA2 | c.8213C>T (p.Ala2738Val) c.7844C>T (p.Ala2615Val) c.680C>T (p.Ala227Val) c.8221C>T (n.8221C>T) c.778C>T c.8117C>T (p.Ala2706Val) | ClinVar dbSNP |
13 | g.32363416T>A | CA483439638 | BRCA2 | c.8214T>A (p.Ala2738=) c.7845T>A (p.Ala2615=) c.681T>A (p.Ala227=) c.8222T>A (n.8222T>A) c.779T>A c.8118T>A (p.Ala2706=) | dbSNP |
13 | g.32363416T>C | CA025519 | BRCA2 | c.8214T>C (p.Ala2738=) c.7845T>C (p.Ala2615=) c.681T>C (p.Ala227=) c.8222T>C (n.8222T>C) c.779T>C c.8118T>C (p.Ala2706=) | ClinVar dbSNP |
13 | g.32363416T>G | CA483439639 | BRCA2 | c.8214T>G (p.Ala2738=) c.7845T>G (p.Ala2615=) c.681T>G (p.Ala227=) c.8222T>G (n.8222T>G) c.779T>G c.8118T>G (p.Ala2706=) | |
13 | g.32363416T= | CA2082836439 | BRCA2 | c.8214T= (p.Ala2738=) c.7845T= (p.Ala2615=) c.681T= (p.Ala227=) c.8222T= (n.8222T=) c.779T= c.8118T= (p.Ala2706=) | |
13 | g.32363417G>A | CA025521 | BRCA2 | c.8215G>A (p.Val2739Ile) c.7846G>A (p.Val2616Ile) c.682G>A (p.Val228Ile) c.8223G>A (n.8223G>A) c.780G>A c.8119G>A (p.Val2707Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363417G>C | CA6941198 | BRCA2 | c.8215G>C (p.Val2739Leu) c.7846G>C (p.Val2616Leu) c.682G>C (p.Val228Leu) c.8223G>C (n.8223G>C) c.780G>C c.8119G>C (p.Val2707Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363417G= | CA2082836486 | BRCA2 | c.8215G= (p.Val2739=) c.7846G= (p.Val2616=) c.682G= (p.Val228=) c.8223G= (n.8223G=) c.780G= c.8119G= (p.Val2707=) | |
13 | g.32363417G>T | CA6941199 | BRCA2 | c.8215G>T (p.Val2739Phe) c.7846G>T (p.Val2616Phe) c.682G>T (p.Val228Phe) c.8223G>T (n.8223G>T) c.780G>T c.8119G>T (p.Val2707Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363418T>A | CA387749798 | BRCA2 | c.8216T>A (p.Val2739Asp) c.7847T>A (p.Val2616Asp) c.683T>A (p.Val228Asp) c.8224T>A (n.8224T>A) c.781T>A c.8120T>A (p.Val2707Asp) | dbSNP |
13 | g.32363418T>C | CA387749801 | BRCA2 | c.8216T>C (p.Val2739Ala) c.7847T>C (p.Val2616Ala) c.683T>C (p.Val228Ala) c.8224T>C (n.8224T>C) c.781T>C c.8120T>C (p.Val2707Ala) | ClinVar dbSNP |
13 | g.32363418T>G | CA387749797 | BRCA2 | c.8216T>G (p.Val2739Gly) c.7847T>G (p.Val2616Gly) c.683T>G (p.Val228Gly) c.8224T>G (n.8224T>G) c.781T>G c.8120T>G (p.Val2707Gly) | |
13 | g.32363419C>A | CA483439640 | BRCA2 | c.8217C>A (p.Val2739=) c.7848C>A (p.Val2616=) c.684C>A (p.Val228=) c.8225C>A (n.8225C>A) c.782C>A c.8121C>A (p.Val2707=) | ClinVar dbSNP |
13 | g.32363419C= | CA2082836508 | BRCA2 | c.8217C= (p.Val2739=) c.7848C= (p.Val2616=) c.684C= (p.Val228=) c.8225C= (n.8225C=) c.782C= c.8121C= (p.Val2707=) | |
13 | g.32363419C>G | CA483439641 | BRCA2 | c.8217C>G (p.Val2739=) c.7848C>G (p.Val2616=) c.684C>G (p.Val228=) c.8225C>G (n.8225C>G) c.782C>G c.8121C>G (p.Val2707=) | ClinVar dbSNP |
13 | g.32363419C>T | CA483439642 | BRCA2 | c.8217C>T (p.Val2739=) c.7848C>T (p.Val2616=) c.684C>T (p.Val228=) c.8225C>T (n.8225C>T) c.782C>T c.8121C>T (p.Val2707=) | dbSNP |
13 | g.32363419_32363424delinsCTTAAA | CA2082836515 | BRCA2 | c.8217_8222delinsCTTAAA (p.Val2739=) c.7848_7853delinsCTTAAA (p.Val2616=) c.684_689delinsCTTAAA (p.Val228=) c.8225_8230delinsCTTAAA (n.8225_8230delinsCTTAAA) c.782_787delinsCTTAAA c.8121_8126delinsCTTAAA (p.Val2707=) | |
13 | g.32363420T>A | CA387749804 | BRCA2 | c.8218T>A (p.Leu2740Ile) c.7849T>A (p.Leu2617Ile) c.685T>A (p.Leu229Ile) c.8226T>A (n.8226T>A) c.783T>A c.8122T>A (p.Leu2708Ile) | ClinVar dbSNP |
13 | g.32363420T>C | CA483439643 | BRCA2 | c.8218T>C (p.Leu2740=) c.7849T>C (p.Leu2617=) c.685T>C (p.Leu229=) c.8226T>C (n.8226T>C) c.783T>C c.8122T>C (p.Leu2708=) | dbSNP |
13 | g.32363420T>G | CA16619777 | BRCA2 | c.8218T>G (p.Leu2740Val) c.7849T>G (p.Leu2617Val) c.685T>G (p.Leu229Val) c.8226T>G (n.8226T>G) c.783T>G c.8122T>G (p.Leu2708Val) | ClinVar dbSNP |
13 | g.32363420T= | CA2082836528 | BRCA2 | c.8218T= (p.Leu2740=) c.7849T= (p.Leu2617=) c.685T= (p.Leu229=) c.8226T= (n.8226T=) c.783T= c.8122T= (p.Leu2708=) | |
13 | g.32363421dup | CA025522 | BRCA2 | c.8219dup (p.Leu2740PhefsTer24) c.7850dup (p.Leu2617PhefsTer24) c.686dup (p.Leu229PhefsTer24) c.8227dup (n.8227dup) c.784dup c.8123dup (p.Leu2708PhefsTer24) | ClinVar dbSNP |
13 | g.32363420_32363424del | CA913190911 | BRCA2 | c.8218_8222del (p.Leu2740GlufsTer22) c.7849_7853del (p.Leu2617GlufsTer22) c.685_689del (p.Leu229GlufsTer22) c.8226_8230del (n.8226_8230del) c.783_787del c.8122_8126del (p.Leu2708GlufsTer22) | ClinVar dbSNP |
13 | g.32363421T>A | CA025524 | BRCA2 | c.8219T>A (p.Leu2740Ter) c.7850T>A (p.Leu2617Ter) c.686T>A (p.Leu229Ter) c.8227T>A (n.8227T>A) c.784T>A c.8123T>A (p.Leu2708Ter) | ClinVar dbSNP |
13 | g.32363421T>C | CA387749807 | BRCA2 | c.8219T>C (p.Leu2740Ser) c.7850T>C (p.Leu2617Ser) c.686T>C (p.Leu229Ser) c.8227T>C (n.8227T>C) c.784T>C c.8123T>C (p.Leu2708Ser) | |
13 | g.32363421T>G | CA387749808 | BRCA2 | c.8219T>G (p.Leu2740Ter) c.7850T>G (p.Leu2617Ter) c.686T>G (p.Leu229Ter) c.8227T>G (n.8227T>G) c.784T>G c.8123T>G (p.Leu2708Ter) | |
13 | g.32363421T= | CA2082836536 | BRCA2 | c.8219T= (p.Leu2740=) c.7850T= (p.Leu2617=) c.686T= (p.Leu229=) c.8227T= (n.8227T=) c.784T= c.8123T= (p.Leu2708=) | |
13 | g.32363422A>C | CA387749810 | BRCA2 | c.8220A>C (p.Leu2740Phe) c.7851A>C (p.Leu2617Phe) c.687A>C (p.Leu229Phe) c.8228A>C (n.8228A>C) c.785A>C c.8124A>C (p.Leu2708Phe) | |
13 | g.32363422A>G | CA483439649 | BRCA2 | c.8220A>G (p.Leu2740=) c.7851A>G (p.Leu2617=) c.687A>G (p.Leu229=) c.8228A>G (n.8228A>G) c.785A>G c.8124A>G (p.Leu2708=) | ClinVar dbSNP |
13 | g.32363422A>T | CA387749813 | BRCA2 | c.8220A>T (p.Leu2740Phe) c.7851A>T (p.Leu2617Phe) c.687A>T (p.Leu229Phe) c.8228A>T (n.8228A>T) c.785A>T c.8124A>T (p.Leu2708Phe) | dbSNP |
13 | g.32363423A>C | CA387749814 | BRCA2 | c.8221A>C (p.Lys2741Gln) c.7852A>C (p.Lys2618Gln) c.688A>C (p.Lys230Gln) c.8229A>C (n.8229A>C) c.786A>C c.8125A>C (p.Lys2709Gln) | |
13 | g.32363423A>G | CA387749816 | BRCA2 | c.8221A>G (p.Lys2741Glu) c.7852A>G (p.Lys2618Glu) c.688A>G (p.Lys230Glu) c.8229A>G (n.8229A>G) c.786A>G c.8125A>G (p.Lys2709Glu) | |
13 | g.32363423A>T | CA387749818 | BRCA2 | c.8221A>T (p.Lys2741Ter) c.7852A>T (p.Lys2618Ter) c.688A>T (p.Lys230Ter) c.8229A>T (n.8229A>T) c.786A>T c.8125A>T (p.Lys2709Ter) | |
13 | g.32363424A= | CA2082836543 | BRCA2 | c.8222A= (p.Lys2741=) c.7853A= (p.Lys2618=) c.689A= (p.Lys230=) c.8230A= (n.8230A=) c.787A= c.8126A= (p.Lys2709=) | |
13 | g.32363424A>C | CA387749820 | BRCA2 | c.8222A>C (p.Lys2741Thr) c.7853A>C (p.Lys2618Thr) c.689A>C (p.Lys230Thr) c.8230A>C (n.8230A>C) c.787A>C c.8126A>C (p.Lys2709Thr) | |
13 | g.32363424A>G | CA16613957 | BRCA2 | c.8222A>G (p.Lys2741Arg) c.7853A>G (p.Lys2618Arg) c.689A>G (p.Lys230Arg) c.8230A>G (n.8230A>G) c.787A>G c.8126A>G (p.Lys2709Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32363424A>T | CA387749823 | BRCA2 | c.8222A>T (p.Lys2741Met) c.7853A>T (p.Lys2618Met) c.689A>T (p.Lys230Met) c.8230A>T (n.8230A>T) c.787A>T c.8126A>T (p.Lys2709Met) | dbSNP |
13 | g.32363424_32363425delinsAG | CA2082836540 | BRCA2 | c.8222_8223delinsAG (p.Lys2741=) c.7853_7854delinsAG (p.Lys2618=) c.689_690delinsAG (p.Lys230=) c.8230_8231delinsAG (n.8230_8231delinsAG) c.787_788delinsAG c.8126_8127delinsAG (p.Lys2709=) | |
13 | g.32363427_32363434del | CA2695199723 | BRCA2 | c.8225_8232del (p.Asn2742ThrfsTer19) c.7856_7863del (p.Asn2619ThrfsTer19) c.692_699del (p.Asn231ThrfsTer19) c.8233_8240del (n.8233_8240del) c.790_797del c.8129_8136del (p.Asn2710ThrfsTer19) | ClinVar |
13 | g.32363425del | CA10583139 | BRCA2 | c.8223del (p.Asn2742MetfsTer4) c.7854del (p.Asn2619MetfsTer4) c.690del (p.Asn231MetfsTer4) c.8231del (n.8231del) c.788del c.8127del (p.Asn2710MetfsTer4) | ClinVar dbSNP |
13 | g.32363425G>A | CA483439655 | BRCA2 | c.8223G>A (p.Lys2741=) c.7854G>A (p.Lys2618=) c.690G>A (p.Lys230=) c.8231G>A (n.8231G>A) c.788G>A c.8127G>A (p.Lys2709=) | ClinVar dbSNP |
13 | g.32363425G>C | CA387749826 | BRCA2 | c.8223G>C (p.Lys2741Asn) c.7854G>C (p.Lys2618Asn) c.690G>C (p.Lys230Asn) c.8231G>C (n.8231G>C) c.788G>C c.8127G>C (p.Lys2709Asn) | ClinVar dbSNP |
13 | g.32363425G= | CA2082836560 | BRCA2 | c.8223G= (p.Lys2741=) c.7854G= (p.Lys2618=) c.690G= (p.Lys230=) c.8231G= (n.8231G=) c.788G= c.8127G= (p.Lys2709=) | |
13 | g.32363425G>T | CA387749824 | BRCA2 | c.8223G>T (p.Lys2741Asn) c.7854G>T (p.Lys2618Asn) c.690G>T (p.Lys230Asn) c.8231G>T (n.8231G>T) c.788G>T c.8127G>T (p.Lys2709Asn) | COSMIC COSMIC |
13 | g.32363426A>C | CA387749829 | BRCA2 | c.8224A>C (p.Asn2742His) c.7855A>C (p.Asn2619His) c.691A>C (p.Asn231His) c.8232A>C (n.8232A>C) c.789A>C c.8128A>C (p.Asn2710His) | |
13 | g.32363426A>G | CA387749830 | BRCA2 | c.8224A>G (p.Asn2742Asp) c.7855A>G (p.Asn2619Asp) c.691A>G (p.Asn231Asp) c.8232A>G (n.8232A>G) c.789A>G c.8128A>G (p.Asn2710Asp) | |
13 | g.32363426A>T | CA387749832 | BRCA2 | c.8224A>T (p.Asn2742Tyr) c.7855A>T (p.Asn2619Tyr) c.691A>T (p.Asn231Tyr) c.8232A>T (n.8232A>T) c.789A>T c.8128A>T (p.Asn2710Tyr) | dbSNP |
13 | g.32363427A= | CA2082836581 | BRCA2 | c.8225A= (p.Asn2742=) c.7856A= (p.Asn2619=) c.692A= (p.Asn231=) c.8233A= (n.8233A=) c.790A= c.8129A= (p.Asn2710=) | |
13 | g.32363427A>C | CA387749834 | BRCA2 | c.8225A>C (p.Asn2742Thr) c.7856A>C (p.Asn2619Thr) c.692A>C (p.Asn231Thr) c.8233A>C (n.8233A>C) c.790A>C c.8129A>C (p.Asn2710Thr) | |
13 | g.32363427A>G | CA025525 | BRCA2 | c.8225A>G (p.Asn2742Ser) c.7856A>G (p.Asn2619Ser) c.692A>G (p.Asn231Ser) c.8233A>G (n.8233A>G) c.790A>G c.8129A>G (p.Asn2710Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.32363427A>T | CA387749836 | BRCA2 | c.8225A>T (p.Asn2742Ile) c.7856A>T (p.Asn2619Ile) c.692A>T (p.Asn231Ile) c.8233A>T (n.8233A>T) c.790A>T c.8129A>T (p.Asn2710Ile) | dbSNP |
13 | g.32363427_32363428del | CA2580087499 | BRCA2 | c.8225_8226del (p.Asn2742ArgfsTer21) c.7856_7857del (p.Asn2619ArgfsTer21) c.692_693del (p.Asn231ArgfsTer21) c.8233_8234del (n.8233_8234del) c.790_791del c.8129_8130del (p.Asn2710ArgfsTer21) | ClinVar |
13 | g.32363427_32363442delinsATGGCAGACTGACAGT | CA2082836571 | BRCA2 | c.8225_8240delinsATGGCAGACTGACAGT (p.Asn2742=) c.7856_7871delinsATGGCAGACTGACAGT (p.Asn2619=) c.692_707delinsATGGCAGACTGACAGT (p.Asn231=) c.8233_8248delinsATGGCAGACTGACAGT (n.8233_8248delinsATGGCAGACTGACAGT) c.790_805delinsATGGCAGACTGACAGT c.8129_8144delinsATGGCAGACTGACAGT (p.Asn2710=) | |
13 | g.32363428T>A | CA387749838 | BRCA2 | c.8226T>A (p.Asn2742Lys) c.7857T>A (p.Asn2619Lys) c.693T>A (p.Asn231Lys) c.8234T>A (n.8234T>A) c.791T>A c.8130T>A (p.Asn2710Lys) | |
13 | g.32363428T>C | CA16607489 | BRCA2 | c.8226T>C (p.Asn2742=) c.7857T>C (p.Asn2619=) c.693T>C (p.Asn231=) c.8234T>C (n.8234T>C) c.791T>C c.8130T>C (p.Asn2710=) | ClinVar dbSNP |
13 | g.32363428T>G | CA387749840 | BRCA2 | c.8226T>G (p.Asn2742Lys) c.7857T>G (p.Asn2619Lys) c.693T>G (p.Asn231Lys) c.8234T>G (n.8234T>G) c.791T>G c.8130T>G (p.Asn2710Lys) | |
13 | g.32363428T= | CA2082836588 | BRCA2 | c.8226T= (p.Asn2742=) c.7857T= (p.Asn2619=) c.693T= (p.Asn231=) c.8234T= (n.8234T=) c.791T= c.8130T= (p.Asn2710=) | |
13 | g.32363431_32363445del | CA025528 | BRCA2 | c.8229_8243del (p.Arg2744_Gly2748del) c.7860_7874del (p.Arg2621_Gly2625del) c.696_710del (p.Arg233_Gly237del) c.8237_8251del (n.8237_8251del) c.794_808del c.8133_8147del (p.Arg2712_Gly2716del) | ClinVar dbSNP |
13 | g.32363429G>A | CA025526 | BRCA2 | c.8227G>A (p.Gly2743Ser) c.7858G>A (p.Gly2620Ser) c.694G>A (p.Gly232Ser) c.8235G>A (n.8235G>A) c.792G>A c.8131G>A (p.Gly2711Ser) | ClinVar dbSNP |
13 | g.32363429G>C | CA387749844 | BRCA2 | c.8227G>C (p.Gly2743Arg) c.7858G>C (p.Gly2620Arg) c.694G>C (p.Gly232Arg) c.8235G>C (n.8235G>C) c.792G>C c.8131G>C (p.Gly2711Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32363429G= | CA2082836597 | BRCA2 | c.8227G= (p.Gly2743=) c.7858G= (p.Gly2620=) c.694G= (p.Gly232=) c.8235G= (n.8235G=) c.792G= c.8131G= (p.Gly2711=) | |
13 | g.32363429G>T | CA387749846 | BRCA2 | c.8227G>T (p.Gly2743Cys) c.7858G>T (p.Gly2620Cys) c.694G>T (p.Gly232Cys) c.8235G>T (n.8235G>T) c.792G>T c.8131G>T (p.Gly2711Cys) | ClinVar dbSNP |
13 | g.32363429_32363430insA | CA658823563 | BRCA2 | c.8227_8228insA (p.Gly2743GlufsTer21) c.7858_7859insA (p.Gly2620GlufsTer21) c.694_695insA (p.Gly232GlufsTer21) c.8235_8236insA (n.8235_8236insA) c.792_793insA c.8131_8132insA (p.Gly2711GlufsTer21) | ClinVar dbSNP |
13 | g.32363430G>A | CA387749850 | BRCA2 | c.8228G>A (p.Gly2743Asp) c.7859G>A (p.Gly2620Asp) c.695G>A (p.Gly232Asp) c.8236G>A (n.8236G>A) c.793G>A c.8132G>A (p.Gly2711Asp) | ClinVar dbSNP |
13 | g.32363430G>C | CA387749852 | BRCA2 | c.8228G>C (p.Gly2743Ala) c.7859G>C (p.Gly2620Ala) c.695G>C (p.Gly232Ala) c.8236G>C (n.8236G>C) c.793G>C c.8132G>C (p.Gly2711Ala) | dbSNP |
13 | g.32363430G= | CA2082836602 | BRCA2 | c.8228G= (p.Gly2743=) c.7859G= (p.Gly2620=) c.695G= (p.Gly232=) c.8236G= (n.8236G=) c.793G= c.8132G= (p.Gly2711=) | |
13 | g.32363430G>T | CA387749848 | BRCA2 | c.8228G>T (p.Gly2743Val) c.7859G>T (p.Gly2620Val) c.695G>T (p.Gly232Val) c.8236G>T (n.8236G>T) c.793G>T c.8132G>T (p.Gly2711Val) | dbSNP gnomAD v4 |
13 | g.32363430_32363431insA | CA025527 | BRCA2 | c.8228_8229insA (p.Arg2744GlnfsTer20) c.7859_7860insA (p.Arg2621GlnfsTer20) c.695_696insA (p.Arg233GlnfsTer20) c.8236_8237insA (n.8236_8237insA) c.793_794insA c.8132_8133insA (p.Arg2712GlnfsTer20) | ClinVar dbSNP |
13 | g.32363431C>A | CA483439662 | BRCA2 | c.8229C>A (p.Gly2743=) c.7860C>A (p.Gly2620=) c.696C>A (p.Gly232=) c.8237C>A (n.8237C>A) c.794C>A c.8133C>A (p.Gly2711=) | dbSNP |
13 | g.32363431C= | CA2082836607 | BRCA2 | c.8229C= (p.Gly2743=) c.7860C= (p.Gly2620=) c.696C= (p.Gly232=) c.8237C= (n.8237C=) c.794C= c.8133C= (p.Gly2711=) | |
13 | g.32363431C>G | CA483439664 | BRCA2 | c.8229C>G (p.Gly2743=) c.7860C>G (p.Gly2620=) c.696C>G (p.Gly232=) c.8237C>G (n.8237C>G) c.794C>G c.8133C>G (p.Gly2711=) | ClinVar dbSNP |
13 | g.32363431C>T | CA483439665 | BRCA2 | c.8229C>T (p.Gly2743=) c.7860C>T (p.Gly2620=) c.696C>T (p.Gly232=) c.8237C>T (n.8237C>T) c.794C>T c.8133C>T (p.Gly2711=) | ClinVar dbSNP |
13 | g.32363432A= | CA2082836614 | BRCA2 | c.8230A= (p.Arg2744=) c.7861A= (p.Arg2621=) c.697A= (p.Arg233=) c.8238A= (n.8238A=) c.795A= c.8134A= (p.Arg2712=) | |
13 | g.32363432A>C | CA483439667 | BRCA2 | c.8230A>C (p.Arg2744=) c.7861A>C (p.Arg2621=) c.697A>C (p.Arg233=) c.8238A>C (n.8238A>C) c.795A>C c.8134A>C (p.Arg2712=) | |
13 | g.32363432A>G | CA387749854 | BRCA2 | c.8230A>G (p.Arg2744Gly) c.7861A>G (p.Arg2621Gly) c.697A>G (p.Arg233Gly) c.8238A>G (n.8238A>G) c.795A>G c.8134A>G (p.Arg2712Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32363432A>T | CA387749856 | BRCA2 | c.8230A>T (p.Arg2744Ter) c.7861A>T (p.Arg2621Ter) c.697A>T (p.Arg233Ter) c.8238A>T (n.8238A>T) c.795A>T c.8134A>T (p.Arg2712Ter) | dbSNP |
13 | g.32363432dup | CA697340193 | BRCA2 | c.8230dup (p.Arg2744LysfsTer20) c.7861dup (p.Arg2621LysfsTer20) c.697dup (p.Arg233LysfsTer20) c.8238dup (n.8238dup) c.795dup c.8134dup (p.Arg2712LysfsTer20) | ClinVar dbSNP |
13 | g.32363432_32363436delinsAGACT | CA2082836623 | BRCA2 | c.8230_8234delinsAGACT (p.Arg2744=) c.7861_7865delinsAGACT (p.Arg2621=) c.697_701delinsAGACT (p.Arg233=) c.8238_8242delinsAGACT (n.8238_8242delinsAGACT) c.795_799delinsAGACT c.8134_8138delinsAGACT (p.Arg2712=) | |
13 | g.32363433G>A | CA387749858 | BRCA2 | c.8231G>A (p.Arg2744Lys) c.7862G>A (p.Arg2621Lys) c.698G>A (p.Arg233Lys) c.8239G>A (n.8239G>A) c.796G>A c.8135G>A (p.Arg2712Lys) | ClinVar dbSNP gnomAD v4 |
13 | g.32363433G>C | CA387749860 | BRCA2 | c.8231G>C (p.Arg2744Thr) c.7862G>C (p.Arg2621Thr) c.698G>C (p.Arg233Thr) c.8239G>C (n.8239G>C) c.796G>C c.8135G>C (p.Arg2712Thr) | dbSNP |
13 | g.32363433G= | CA2082836634 | BRCA2 | c.8231G= (p.Arg2744=) c.7862G= (p.Arg2621=) c.698G= (p.Arg233=) c.8239G= (n.8239G=) c.796G= c.8135G= (p.Arg2712=) | |
13 | g.32363433G>T | CA387749862 | BRCA2 | c.8231G>T (p.Arg2744Ile) c.7862G>T (p.Arg2621Ile) c.698G>T (p.Arg233Ile) c.8239G>T (n.8239G>T) c.796G>T c.8135G>T (p.Arg2712Ile) | ClinVar dbSNP |
13 | g.32363436_32363439dup | CA916080534 | BRCA2 | c.8234_8237dup (p.Val2747AspfsTer18) c.7865_7868dup (p.Val2624AspfsTer18) c.701_704dup (p.Val236AspfsTer18) c.8242_8245dup (n.8242_8245dup) c.799_802dup c.8138_8141dup (p.Val2715AspfsTer18) | ClinVar dbSNP |
13 | g.32363436_32363439del | CA025532 | BRCA2 | c.8234_8237del (p.Leu2745GlnfsTer?) c.7865_7868del (p.Leu2622GlnfsTer?) c.701_704del (p.Leu234GlnfsTer?) c.8242_8245del (n.8242_8245del) c.799_802del c.8138_8141del (p.Leu2713GlnfsTer?) | ClinVar dbSNP |
13 | g.32363434A>C | CA387749867 | BRCA2 | c.8232A>C (p.Arg2744Ser) c.7863A>C (p.Arg2621Ser) c.699A>C (p.Arg233Ser) c.8240A>C (n.8240A>C) c.797A>C c.8136A>C (p.Arg2712Ser) | dbSNP |
13 | g.32363434A>G | CA483439669 | BRCA2 | c.8232A>G (p.Arg2744=) c.7863A>G (p.Arg2621=) c.699A>G (p.Arg233=) c.8240A>G (n.8240A>G) c.797A>G c.8136A>G (p.Arg2712=) | gnomAD v4 |
13 | g.32363434A>T | CA387749866 | BRCA2 | c.8232A>T (p.Arg2744Ser) c.7863A>T (p.Arg2621Ser) c.699A>T (p.Arg233Ser) c.8240A>T (n.8240A>T) c.797A>T c.8136A>T (p.Arg2712Ser) | dbSNP |
13 | g.32363435C>A | CA387749869 | BRCA2 | c.8233C>A (p.Leu2745Met) c.7864C>A (p.Leu2622Met) c.700C>A (p.Leu234Met) c.8241C>A (n.8241C>A) c.798C>A c.8137C>A (p.Leu2713Met) | dbSNP |
13 | g.32363435C= | CA2082836742 | BRCA2 | c.8233C= (p.Leu2745=) c.7864C= (p.Leu2622=) c.700C= (p.Leu234=) c.8241C= (n.8241C=) c.798C= c.8137C= (p.Leu2713=) | |
13 | g.32363435C>G | CA025530 | BRCA2 | c.8233C>G (p.Leu2745Val) c.7864C>G (p.Leu2622Val) c.700C>G (p.Leu234Val) c.8241C>G (n.8241C>G) c.798C>G c.8137C>G (p.Leu2713Val) | ClinVar dbSNP |
13 | g.32363435C>T | CA483439670 | BRCA2 | c.8233C>T (p.Leu2745=) c.7864C>T (p.Leu2622=) c.700C>T (p.Leu234=) c.8241C>T (n.8241C>T) c.798C>T c.8137C>T (p.Leu2713=) | ClinVar dbSNP |
13 | g.32363436T>A | CA387749872 | BRCA2 | c.8234T>A (p.Leu2745Gln) c.7865T>A (p.Leu2622Gln) c.701T>A (p.Leu234Gln) c.8242T>A (n.8242T>A) c.799T>A c.8138T>A (p.Leu2713Gln) | dbSNP |
13 | g.32363436T>C | CA387749874 | BRCA2 | c.8234T>C (p.Leu2745Pro) c.7865T>C (p.Leu2622Pro) c.701T>C (p.Leu234Pro) c.8242T>C (n.8242T>C) c.799T>C c.8138T>C (p.Leu2713Pro) | |
13 | g.32363436T>G | CA387749876 | BRCA2 | c.8234T>G (p.Leu2745Arg) c.7865T>G (p.Leu2622Arg) c.701T>G (p.Leu234Arg) c.8242T>G (n.8242T>G) c.799T>G c.8138T>G (p.Leu2713Arg) | |
13 | g.32363436T= | CA2082836756 | BRCA2 | c.8234T= (p.Leu2745=) c.7865T= (p.Leu2622=) c.701T= (p.Leu234=) c.8242T= (n.8242T=) c.799T= c.8138T= (p.Leu2713=) | |
13 | g.32363436dup | CA025531 | BRCA2 | c.8234dup (p.Thr2746AspfsTer18) c.7865dup (p.Thr2623AspfsTer18) c.701dup (p.Thr235AspfsTer18) c.8242dup (n.8242dup) c.799dup c.8138dup (p.Thr2714AspfsTer18) | ClinVar dbSNP |
13 | g.32363437G>A | CA483439673 | BRCA2 | c.8235G>A (p.Leu2745=) c.7866G>A (p.Leu2622=) c.702G>A (p.Leu234=) c.8243G>A (n.8243G>A) c.800G>A c.8139G>A (p.Leu2713=) | dbSNP gnomAD v4 |
13 | g.32363437G>C | CA483439675 | BRCA2 | c.8235G>C (p.Leu2745=) c.7866G>C (p.Leu2622=) c.702G>C (p.Leu234=) c.8243G>C (n.8243G>C) c.800G>C c.8139G>C (p.Leu2713=) | dbSNP |
13 | g.32363437G>T | CA483439676 | BRCA2 | c.8235G>T (p.Leu2745=) c.7866G>T (p.Leu2622=) c.702G>T (p.Leu234=) c.8243G>T (n.8243G>T) c.800G>T c.8139G>T (p.Leu2713=) | gnomAD v4 |
13 | g.32363437_32363439delinsGAC | CA2082836767 | BRCA2 | c.8235_8237delinsGAC (p.Leu2745=) c.7866_7868delinsGAC (p.Leu2622=) c.702_704delinsGAC (p.Leu234=) c.8243_8245delinsGAC (n.8243_8245delinsGAC) c.800_802delinsGAC c.8139_8141delinsGAC (p.Leu2713=) | |
13 | g.32363437_32363439dup | CA913188577 | BRCA2 | c.8235_8237dup (p.Thr2746_Val2747insThr) c.7866_7868dup (p.Thr2623_Val2624insThr) c.702_704dup (p.Thr235_Val236insThr) c.8243_8245dup (n.8243_8245dup) c.800_802dup c.8139_8141dup (p.Thr2714_Val2715insThr) | ClinVar dbSNP |
13 | g.32363438A= | CA2082836781 | BRCA2 | c.8236A= (p.Thr2746=) c.7867A= (p.Thr2623=) c.703A= (p.Thr235=) c.8244A= (n.8244A=) c.801A= c.8140A= (p.Thr2714=) | |
13 | g.32363438A>C | CA387749878 | BRCA2 | c.8236A>C (p.Thr2746Pro) c.7867A>C (p.Thr2623Pro) c.703A>C (p.Thr235Pro) c.8244A>C (n.8244A>C) c.801A>C c.8140A>C (p.Thr2714Pro) | dbSNP |
13 | g.32363438A>G | CA387749882 | BRCA2 | c.8236A>G (p.Thr2746Ala) c.7867A>G (p.Thr2623Ala) c.703A>G (p.Thr235Ala) c.8244A>G (n.8244A>G) c.801A>G c.8140A>G (p.Thr2714Ala) | ClinVar dbSNP gnomAD v4 |
13 | g.32363438A>T | CA387749880 | BRCA2 | c.8236A>T (p.Thr2746Ser) c.7867A>T (p.Thr2623Ser) c.703A>T (p.Thr235Ser) c.8244A>T (n.8244A>T) c.801A>T c.8140A>T (p.Thr2714Ser) | dbSNP |
13 | g.32363439_32363440del | CA025533 | BRCA2 | c.8237_8238del (p.Thr2746SerfsTer17) c.7868_7869del (p.Thr2623SerfsTer17) c.704_705del (p.Thr235SerfsTer17) c.8245_8246del (n.8245_8246del) c.802_803del c.8141_8142del (p.Thr2714SerfsTer17) | ClinVar dbSNP |
13 | g.32363439C>A | CA387749884 | BRCA2 | c.8237C>A (p.Thr2746Lys) c.7868C>A (p.Thr2623Lys) c.704C>A (p.Thr235Lys) c.8245C>A (n.8245C>A) c.802C>A c.8141C>A (p.Thr2714Lys) | dbSNP |
13 | g.32363439C= | CA2082836788 | BRCA2 | c.8237C= (p.Thr2746=) c.7868C= (p.Thr2623=) c.704C= (p.Thr235=) c.8245C= (n.8245C=) c.802C= c.8141C= (p.Thr2714=) | |
13 | g.32363439C>G | CA387749886 | BRCA2 | c.8237C>G (p.Thr2746Arg) c.7868C>G (p.Thr2623Arg) c.704C>G (p.Thr235Arg) c.8245C>G (n.8245C>G) c.802C>G c.8141C>G (p.Thr2714Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32363439C>T | CA387749888 | BRCA2 | c.8237C>T (p.Thr2746Ile) c.7868C>T (p.Thr2623Ile) c.704C>T (p.Thr235Ile) c.8245C>T (n.8245C>T) c.802C>T c.8141C>T (p.Thr2714Ile) | dbSNP gnomAD v4 |
13 | g.32363439_32363443delinsCAGTT | CA2082836794 | BRCA2 | c.8237_8241delinsCAGTT (p.Thr2746=) c.7868_7872delinsCAGTT (p.Thr2623=) c.704_708delinsCAGTT (p.Thr235=) c.8245_8249delinsCAGTT (n.8245_8249delinsCAGTT) c.802_806delinsCAGTT c.8141_8145delinsCAGTT (p.Thr2714=) | |
13 | g.32363440A= | CA2082836804 | BRCA2 | c.8238A= (p.Thr2746=) c.7869A= (p.Thr2623=) c.705A= (p.Thr235=) c.8246A= (n.8246A=) c.803A= c.8142A= (p.Thr2714=) | |
13 | g.32363440A>C | CA335835 | BRCA2 | c.8238A>C (p.Thr2746=) c.7869A>C (p.Thr2623=) c.705A>C (p.Thr235=) c.8246A>C (n.8246A>C) c.803A>C c.8142A>C (p.Thr2714=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363440A>G | CA483439678 | BRCA2 | c.8238A>G (p.Thr2746=) c.7869A>G (p.Thr2623=) c.705A>G (p.Thr235=) c.8246A>G (n.8246A>G) c.803A>G c.8142A>G (p.Thr2714=) | dbSNP gnomAD v4 |
13 | g.32363440A>T | CA483439679 | BRCA2 | c.8238A>T (p.Thr2746=) c.7869A>T (p.Thr2623=) c.705A>T (p.Thr235=) c.8246A>T (n.8246A>T) c.803A>T c.8142A>T (p.Thr2714=) | dbSNP |
13 | g.32363440_32363443del | CA10589474 | BRCA2 | c.8238_8241del (p.Gly2748ArgfsTer28) c.7869_7872del (p.Gly2625ArgfsTer28) c.705_708del (p.Gly237ArgfsTer28) c.8246_8249del (n.8246_8249del) c.803_806del c.8142_8145del (p.Gly2716ArgfsTer28) | ClinVar dbSNP |
13 | g.32363441G>A | CA025534 | BRCA2 | c.8239G>A (p.Val2747Ile) c.7870G>A (p.Val2624Ile) c.706G>A (p.Val236Ile) c.8247G>A (n.8247G>A) c.804G>A c.8143G>A (p.Val2715Ile) | ClinVar dbSNP gnomAD v4 |
13 | g.32363441G>C | CA387749893 | BRCA2 | c.8239G>C (p.Val2747Leu) c.7870G>C (p.Val2624Leu) c.706G>C (p.Val236Leu) c.8247G>C (n.8247G>C) c.804G>C c.8143G>C (p.Val2715Leu) | ClinVar dbSNP |
13 | g.32363441G= | CA2082836813 | BRCA2 | c.8239G= (p.Val2747=) c.7870G= (p.Val2624=) c.706G= (p.Val236=) c.8247G= (n.8247G=) c.804G= c.8143G= (p.Val2715=) | |
13 | g.32363441G>T | CA387749895 | BRCA2 | c.8239G>T (p.Val2747Phe) c.7870G>T (p.Val2624Phe) c.706G>T (p.Val236Phe) c.8247G>T (n.8247G>T) c.804G>T c.8143G>T (p.Val2715Phe) | |
13 | g.32363442T>A | CA387749897 | BRCA2 | c.8240T>A (p.Val2747Asp) c.7871T>A (p.Val2624Asp) c.707T>A (p.Val236Asp) c.8248T>A (n.8248T>A) c.805T>A c.8144T>A (p.Val2715Asp) | dbSNP |
13 | g.32363442T>C | CA387749899 | BRCA2 | c.8240T>C (p.Val2747Ala) c.7871T>C (p.Val2624Ala) c.707T>C (p.Val236Ala) c.8248T>C (n.8248T>C) c.805T>C c.8144T>C (p.Val2715Ala) | ClinVar dbSNP |
13 | g.32363442T>G | CA387749901 | BRCA2 | c.8240T>G (p.Val2747Gly) c.7871T>G (p.Val2624Gly) c.707T>G (p.Val236Gly) c.8248T>G (n.8248T>G) c.805T>G c.8144T>G (p.Val2715Gly) | |
13 | g.32363443T>A | CA483439684 | BRCA2 | c.8241T>A (p.Val2747=) c.7872T>A (p.Val2624=) c.708T>A (p.Val236=) c.8249T>A (n.8249T>A) c.806T>A c.8145T>A (p.Val2715=) | |
13 | g.32363443T>C | CA483439685 | BRCA2 | c.8241T>C (p.Val2747=) c.7872T>C (p.Val2624=) c.708T>C (p.Val236=) c.8249T>C (n.8249T>C) c.806T>C c.8145T>C (p.Val2715=) | |
13 | g.32363443T>G | CA483439686 | BRCA2 | c.8241T>G (p.Val2747=) c.7872T>G (p.Val2624=) c.708T>G (p.Val236=) c.8249T>G (n.8249T>G) c.806T>G c.8145T>G (p.Val2715=) | |
13 | g.32363444G>A | CA16614372 | BRCA2 | c.8242G>A (p.Gly2748Ser) c.7873G>A (p.Gly2625Ser) c.709G>A (p.Gly237Ser) c.8250G>A (n.8250G>A) c.807G>A c.8146G>A (p.Gly2716Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363444G>C | CA387749905 | BRCA2 | c.8242G>C (p.Gly2748Arg) c.7873G>C (p.Gly2625Arg) c.709G>C (p.Gly237Arg) c.8250G>C (n.8250G>C) c.807G>C c.8146G>C (p.Gly2716Arg) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363444G= | CA2082836818 | BRCA2 | c.8242G= (p.Gly2748=) c.7873G= (p.Gly2625=) c.709G= (p.Gly237=) c.8250G= (n.8250G=) c.807G= c.8146G= (p.Gly2716=) | |
13 | g.32363444G>T | CA387749903 | BRCA2 | c.8242G>T (p.Gly2748Cys) c.7873G>T (p.Gly2625Cys) c.709G>T (p.Gly237Cys) c.8250G>T (n.8250G>T) c.807G>T c.8146G>T (p.Gly2716Cys) | dbSNP |
13 | g.32363445G>A | CA025535 | BRCA2 | c.8243G>A (p.Gly2748Asp) c.7874G>A (p.Gly2625Asp) c.710G>A (p.Gly237Asp) c.8251G>A (n.8251G>A) c.808G>A c.8147G>A (p.Gly2716Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363445G>C | CA387749907 | BRCA2 | c.8243G>C (p.Gly2748Ala) c.7874G>C (p.Gly2625Ala) c.710G>C (p.Gly237Ala) c.8251G>C (n.8251G>C) c.808G>C c.8147G>C (p.Gly2716Ala) | dbSNP |
13 | g.32363445G= | CA2082836830 | BRCA2 | c.8243G= (p.Gly2748=) c.7874G= (p.Gly2625=) c.710G= (p.Gly237=) c.8251G= (n.8251G=) c.808G= c.8147G= (p.Gly2716=) | |
13 | g.32363445G>T | CA387749910 | BRCA2 | c.8243G>T (p.Gly2748Val) c.7874G>T (p.Gly2625Val) c.710G>T (p.Gly237Val) c.8251G>T (n.8251G>T) c.808G>T c.8147G>T (p.Gly2716Val) | ClinVar dbSNP |
13 | g.32363446T>A | CA483439687 | BRCA2 | c.8244T>A (p.Gly2748=) c.7875T>A (p.Gly2625=) c.711T>A (p.Gly237=) c.8252T>A (n.8252T>A) c.809T>A c.8148T>A (p.Gly2716=) | dbSNP |
13 | g.32363446T>C | CA483439688 | BRCA2 | c.8244T>C (p.Gly2748=) c.7875T>C (p.Gly2625=) c.711T>C (p.Gly237=) c.8252T>C (n.8252T>C) c.809T>C c.8148T>C (p.Gly2716=) | ClinVar dbSNP |
13 | g.32363446T>G | CA483439689 | BRCA2 | c.8244T>G (p.Gly2748=) c.7875T>G (p.Gly2625=) c.711T>G (p.Gly237=) c.8252T>G (n.8252T>G) c.809T>G c.8148T>G (p.Gly2716=) | dbSNP |
13 | g.32363449_32363463del | CA2695217957 | BRCA2 | c.8247_8261del (p.Gln2749_Leu2753del) c.7878_7892del (p.Gln2626_Leu2630del) c.714_728del (p.Gln238_Leu242del) c.8255_8269del (n.8255_8269del) c.812_826del c.8151_8165del (p.Gln2717_Leu2721del) | |
13 | g.32363447C>A | CA387749913 | BRCA2 | c.8245C>A (p.Gln2749Lys) c.7876C>A (p.Gln2626Lys) c.712C>A (p.Gln238Lys) c.8253C>A (n.8253C>A) c.810C>A c.8149C>A (p.Gln2717Lys) | dbSNP |
13 | g.32363447C= | CA2082836844 | BRCA2 | c.8245C= (p.Gln2749=) c.7876C= (p.Gln2626=) c.712C= (p.Gln238=) c.8253C= (n.8253C=) c.810C= c.8149C= (p.Gln2717=) | |
13 | g.32363447C>G | CA387749916 | BRCA2 | c.8245C>G (p.Gln2749Glu) c.7876C>G (p.Gln2626Glu) c.712C>G (p.Gln238Glu) c.8253C>G (n.8253C>G) c.810C>G c.8149C>G (p.Gln2717Glu) | ClinVar dbSNP |
13 | g.32363447C>T | CA387749914 | BRCA2 | c.8245C>T (p.Gln2749Ter) c.7876C>T (p.Gln2626Ter) c.712C>T (p.Gln238Ter) c.8253C>T (n.8253C>T) c.810C>T c.8149C>T (p.Gln2717Ter) | ClinVar dbSNP |
13 | g.32363447_32363449delinsCAG | CA2082836850 | BRCA2 | c.8245_8247delinsCAG (p.Gln2749=) c.7876_7878delinsCAG (p.Gln2626=) c.712_714delinsCAG (p.Gln238=) c.8253_8255delinsCAG (n.8253_8255delinsCAG) c.810_812delinsCAG c.8149_8151delinsCAG (p.Gln2717=) | |
13 | g.32363447_32363450delinsCAGA | CA2082836846 | BRCA2 | c.8245_8248delinsCAGA (p.Gln2749=) c.7876_7879delinsCAGA (p.Gln2626=) c.712_715delinsCAGA (p.Gln238=) c.8253_8256delinsCAGA (n.8253_8256delinsCAGA) c.810_813delinsCAGA c.8149_8152delinsCAGA (p.Gln2717=) | |
13 | g.32363448A>C | CA387749920 | BRCA2 | c.8246A>C (p.Gln2749Pro) c.7877A>C (p.Gln2626Pro) c.713A>C (p.Gln238Pro) c.8254A>C (n.8254A>C) c.811A>C c.8150A>C (p.Gln2717Pro) | |
13 | g.32363448A>G | CA387749922 | BRCA2 | c.8246A>G (p.Gln2749Arg) c.7877A>G (p.Gln2626Arg) c.713A>G (p.Gln238Arg) c.8254A>G (n.8254A>G) c.811A>G c.8150A>G (p.Gln2717Arg) | ClinVar dbSNP |
13 | g.32363448A>T | CA387749923 | BRCA2 | c.8246A>T (p.Gln2749Leu) c.7877A>T (p.Gln2626Leu) c.713A>T (p.Gln238Leu) c.8254A>T (n.8254A>T) c.811A>T c.8150A>T (p.Gln2717Leu) | dbSNP |
13 | g.32363449_32363450del | CA025536 | BRCA2 | c.8247_8248del (p.Lys2750AspfsTer13) c.7878_7879del (p.Lys2627AspfsTer13) c.714_715del (p.Lys239AspfsTer13) c.8255_8256del (n.8255_8256del) c.812_813del c.8151_8152del (p.Lys2718AspfsTer13) | ClinVar dbSNP gnomAD v4 |
13 | g.32363451_32363453del | CA025539 | BRCA2 | c.8249_8251del (p.Lys2750del) c.7880_7882del (p.Lys2627del) c.716_718del (p.Lys239del) c.8257_8259del (n.8257_8259del) c.814_816del c.8153_8155del (p.Lys2718del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363449G>A | CA025538 | BRCA2 | c.8247G>A (p.Gln2749=) c.7878G>A (p.Gln2626=) c.714G>A (p.Gln238=) c.8255G>A (n.8255G>A) c.812G>A c.8151G>A (p.Gln2717=) | ClinVar dbSNP gnomAD v4 |
13 | g.32363449G>C | CA387749928 | BRCA2 | c.8247G>C (p.Gln2749His) c.7878G>C (p.Gln2626His) c.714G>C (p.Gln238His) c.8255G>C (n.8255G>C) c.812G>C c.8151G>C (p.Gln2717His) | dbSNP |
13 | g.32363449G= | CA2082836861 | BRCA2 | c.8247G= (p.Gln2749=) c.7878G= (p.Gln2626=) c.714G= (p.Gln238=) c.8255G= (n.8255G=) c.812G= c.8151G= (p.Gln2717=) | |
13 | g.32363449G>T | CA387749930 | BRCA2 | c.8247G>T (p.Gln2749His) c.7878G>T (p.Gln2626His) c.714G>T (p.Gln238His) c.8255G>T (n.8255G>T) c.812G>T c.8151G>T (p.Gln2717His) | |
13 | g.32363449_32363450delinsGA | CA2082836863 | BRCA2 | c.8247_8248delinsGA (p.Gln2749=) c.7878_7879delinsGA (p.Gln2626=) c.714_715delinsGA (p.Gln238=) c.8255_8256delinsGA (n.8255_8256delinsGA) c.812_813delinsGA c.8151_8152delinsGA (p.Gln2717=) | |
13 | g.32363450A= | CA2082836869 | BRCA2 | c.8248A= (p.Lys2750=) c.7879A= (p.Lys2627=) c.715A= (p.Lys239=) c.8256A= (n.8256A=) c.813A= c.8152A= (p.Lys2718=) | |
13 | g.32363450A>C | CA387749932 | BRCA2 | c.8248A>C (p.Lys2750Gln) c.7879A>C (p.Lys2627Gln) c.715A>C (p.Lys239Gln) c.8256A>C (n.8256A>C) c.813A>C c.8152A>C (p.Lys2718Gln) | ClinVar dbSNP |
13 | g.32363450A>G | CA387749934 | BRCA2 | c.8248A>G (p.Lys2750Glu) c.7879A>G (p.Lys2627Glu) c.715A>G (p.Lys239Glu) c.8256A>G (n.8256A>G) c.813A>G c.8152A>G (p.Lys2718Glu) | ClinVar dbSNP |
13 | g.32363450A>T | CA387749936 | BRCA2 | c.8248A>T (p.Lys2750Ter) c.7879A>T (p.Lys2627Ter) c.715A>T (p.Lys239Ter) c.8256A>T (n.8256A>T) c.813A>T c.8152A>T (p.Lys2718Ter) | dbSNP |
13 | g.32363451del | CA658823565 | BRCA2 | c.8249del (p.Lys2750ArgfsTer27) c.7880del (p.Lys2627ArgfsTer27) c.716del (p.Lys239ArgfsTer27) c.8257del (n.8257del) c.814del c.8153del (p.Lys2718ArgfsTer27) | ClinVar dbSNP |
13 | g.32363450_32363462delinsAAGATTATTCTTC | CA2082836872 | BRCA2 | c.8248_8260delinsAAGATTATTCTTC (p.Lys2750=) c.7879_7891delinsAAGATTATTCTTC (p.Lys2627=) c.715_727delinsAAGATTATTCTTC (p.Lys239=) c.8256_8268delinsAAGATTATTCTTC (n.8256_8268delinsAAGATTATTCTTC) c.813_825delinsAAGATTATTCTTC c.8152_8164delinsAAGATTATTCTTC (p.Lys2718=) | |
13 | g.32363451A= | CA2082836880 | BRCA2 | c.8249A= (p.Lys2750=) c.7880A= (p.Lys2627=) c.716A= (p.Lys239=) c.8257A= (n.8257A=) c.814A= c.8153A= (p.Lys2718=) | |
13 | g.32363451A>C | CA387749941 | BRCA2 | c.8249A>C (p.Lys2750Thr) c.7880A>C (p.Lys2627Thr) c.716A>C (p.Lys239Thr) c.8257A>C (n.8257A>C) c.814A>C c.8153A>C (p.Lys2718Thr) | |
13 | g.32363451A>G | CA247478057 | BRCA2 | c.8249A>G (p.Lys2750Arg) c.7880A>G (p.Lys2627Arg) c.716A>G (p.Lys239Arg) c.8257A>G (n.8257A>G) c.814A>G c.8153A>G (p.Lys2718Arg) | ClinVar dbSNP |
13 | g.32363451A>T | CA387749938 | BRCA2 | c.8249A>T (p.Lys2750Met) c.7880A>T (p.Lys2627Met) c.716A>T (p.Lys239Met) c.8257A>T (n.8257A>T) c.814A>T c.8153A>T (p.Lys2718Met) | dbSNP |
13 | g.32363452_32363453del | CA645372111 | BRCA2 | c.8250_8251del (p.Lys2750AsnfsTer13) c.7881_7882del (p.Lys2627AsnfsTer13) c.717_718del (p.Lys239AsnfsTer13) c.8258_8259del (n.8258_8259del) c.815_816del c.8154_8155del (p.Lys2718AsnfsTer13) | |
13 | g.32363452_32363463del | CA916080536 | BRCA2 | c.8250_8261del (p.Lys2750_His2754delinsAsn) c.7881_7892del (p.Lys2627_His2631delinsAsn) c.717_728del (p.Lys239_His243delinsAsn) c.8258_8269del (n.8258_8269del) c.815_826del c.8154_8165del (p.Lys2718_His2722delinsAsn) | ClinVar dbSNP |
13 | g.32363452G>A | CA483439695 | BRCA2 | c.8250G>A (p.Lys2750=) c.7881G>A (p.Lys2627=) c.717G>A (p.Lys239=) c.8258G>A (n.8258G>A) c.815G>A c.8154G>A (p.Lys2718=) | ClinVar dbSNP |
13 | g.32363452G>C | CA387749943 | BRCA2 | c.8250G>C (p.Lys2750Asn) c.7881G>C (p.Lys2627Asn) c.717G>C (p.Lys239Asn) c.8258G>C (n.8258G>C) c.815G>C c.8154G>C (p.Lys2718Asn) | dbSNP |
13 | g.32363452G>T | CA387749945 | BRCA2 | c.8250G>T (p.Lys2750Asn) c.7881G>T (p.Lys2627Asn) c.717G>T (p.Lys239Asn) c.8258G>T (n.8258G>T) c.815G>T c.8154G>T (p.Lys2718Asn) | ClinVar |
13 | g.32363453A= | CA2082836895 | BRCA2 | c.8251A= (p.Ile2751=) c.7882A= (p.Ile2628=) c.718A= (p.Ile240=) c.8259A= (n.8259A=) c.816A= c.8155A= (p.Ile2719=) | |
13 | g.32363453A>C | CA387749947 | BRCA2 | c.8251A>C (p.Ile2751Leu) c.7882A>C (p.Ile2628Leu) c.718A>C (p.Ile240Leu) c.8259A>C (n.8259A>C) c.816A>C c.8155A>C (p.Ile2719Leu) | |
13 | g.32363453A>G | CA387749949 | BRCA2 | c.8251A>G (p.Ile2751Val) c.7882A>G (p.Ile2628Val) c.718A>G (p.Ile240Val) c.8259A>G (n.8259A>G) c.816A>G c.8155A>G (p.Ile2719Val) | dbSNP |
13 | g.32363453A>T | CA387749951 | BRCA2 | c.8251A>T (p.Ile2751Phe) c.7882A>T (p.Ile2628Phe) c.718A>T (p.Ile240Phe) c.8259A>T (n.8259A>T) c.816A>T c.8155A>T (p.Ile2719Phe) | dbSNP |
13 | g.32363454T>A | CA387749953 | BRCA2 | c.8252T>A (p.Ile2751Asn) c.7883T>A (p.Ile2628Asn) c.719T>A (p.Ile240Asn) c.8260T>A (n.8260T>A) c.817T>A c.8156T>A (p.Ile2719Asn) | dbSNP |
13 | g.32363454T>C | CA387749955 | BRCA2 | c.8252T>C (p.Ile2751Thr) c.7883T>C (p.Ile2628Thr) c.719T>C (p.Ile240Thr) c.8260T>C (n.8260T>C) c.817T>C c.8156T>C (p.Ile2719Thr) | dbSNP |
13 | g.32363454T>G | CA387749957 | BRCA2 | c.8252T>G (p.Ile2751Ser) c.7883T>G (p.Ile2628Ser) c.719T>G (p.Ile240Ser) c.8260T>G (n.8260T>G) c.817T>G c.8156T>G (p.Ile2719Ser) | ClinVar dbSNP |
13 | g.32363454T= | CA2082836897 | BRCA2 | c.8252T= (p.Ile2751=) c.7883T= (p.Ile2628=) c.719T= (p.Ile240=) c.8260T= (n.8260T=) c.817T= c.8156T= (p.Ile2719=) | |
13 | g.32363455dup | CA025540 | BRCA2 | c.8253dup (p.Ile2752TyrfsTer12) c.7884dup (p.Ile2629TyrfsTer12) c.720dup (p.Ile241TyrfsTer12) c.8261dup (n.8261dup) c.818dup c.8157dup (p.Ile2720TyrfsTer12) | ClinVar dbSNP |
13 | g.32363455T>A | CA483439700 | BRCA2 | c.8253T>A (p.Ile2751=) c.7884T>A (p.Ile2628=) c.720T>A (p.Ile240=) c.8261T>A (n.8261T>A) c.818T>A c.8157T>A (p.Ile2719=) | dbSNP |
13 | g.32363455T>C | CA6941200 | BRCA2 | c.8253T>C (p.Ile2751=) c.7884T>C (p.Ile2628=) c.720T>C (p.Ile240=) c.8261T>C (n.8261T>C) c.818T>C c.8157T>C (p.Ile2719=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363455T>G | CA10583140 | BRCA2 | c.8253T>G (p.Ile2751Met) c.7884T>G (p.Ile2628Met) c.720T>G (p.Ile240Met) c.8261T>G (n.8261T>G) c.818T>G c.8157T>G (p.Ile2719Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363455T= | CA2082836905 | BRCA2 | c.8253T= (p.Ile2751=) c.7884T= (p.Ile2628=) c.720T= (p.Ile240=) c.8261T= (n.8261T=) c.818T= c.8157T= (p.Ile2719=) | |
13 | g.32363456A= | CA2082836917 | BRCA2 | c.8254A= (p.Ile2752=) c.7885A= (p.Ile2629=) c.721A= (p.Ile241=) c.8262A= (n.8262A=) c.819A= c.8158A= (p.Ile2720=) | |
13 | g.32363456A>C | CA387749964 | BRCA2 | c.8254A>C (p.Ile2752Leu) c.7885A>C (p.Ile2629Leu) c.721A>C (p.Ile241Leu) c.8262A>C (n.8262A>C) c.819A>C c.8158A>C (p.Ile2720Leu) | |
13 | g.32363456A>G | CA387749962 | BRCA2 | c.8254A>G (p.Ile2752Val) c.7885A>G (p.Ile2629Val) c.721A>G (p.Ile241Val) c.8262A>G (n.8262A>G) c.819A>G c.8158A>G (p.Ile2720Val) | ClinVar |
13 | g.32363456A>T | CA025541 | BRCA2 | c.8254A>T (p.Ile2752Phe) c.7885A>T (p.Ile2629Phe) c.721A>T (p.Ile241Phe) c.8262A>T (n.8262A>T) c.819A>T c.8158A>T (p.Ile2720Phe) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32363456_32363459delinsATTC | CA2082836928 | BRCA2 | c.8254_8257delinsATTC (p.Ile2752=) c.7885_7888delinsATTC (p.Ile2629=) c.721_724delinsATTC (p.Ile241=) c.8262_8265delinsATTC (n.8262_8265delinsATTC) c.819_822delinsATTC c.8158_8161delinsATTC (p.Ile2720=) | |
13 | g.32363457T>A | CA387749967 | BRCA2 | c.8255T>A (p.Ile2752Asn) c.7886T>A (p.Ile2629Asn) c.722T>A (p.Ile241Asn) c.8263T>A (n.8263T>A) c.820T>A c.8159T>A (p.Ile2720Asn) | |
13 | g.32363457T>C | CA387749968 | BRCA2 | c.8255T>C (p.Ile2752Thr) c.7886T>C (p.Ile2629Thr) c.722T>C (p.Ile241Thr) c.8263T>C (n.8263T>C) c.820T>C c.8159T>C (p.Ile2720Thr) | |
13 | g.32363457T>G | CA387749970 | BRCA2 | c.8255T>G (p.Ile2752Ser) c.7886T>G (p.Ile2629Ser) c.722T>G (p.Ile241Ser) c.8263T>G (n.8263T>G) c.820T>G c.8159T>G (p.Ile2720Ser) | dbSNP |
13 | g.32363460_32363462del | CA025542 | BRCA2 | c.8258_8260del (p.Leu2753del) c.7889_7891del (p.Leu2630del) c.725_727del (p.Leu242del) c.8266_8268del (n.8266_8268del) c.823_825del c.8162_8164del (p.Leu2721del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363458T>A | CA483439705 | BRCA2 | c.8256T>A (p.Ile2752=) c.7887T>A (p.Ile2629=) c.723T>A (p.Ile241=) c.8264T>A (n.8264T>A) c.821T>A c.8160T>A (p.Ile2720=) | dbSNP |
13 | g.32363458T>C | CA483439706 | BRCA2 | c.8256T>C (p.Ile2752=) c.7887T>C (p.Ile2629=) c.723T>C (p.Ile241=) c.8264T>C (n.8264T>C) c.821T>C c.8160T>C (p.Ile2720=) | |
13 | g.32363458T>G | CA387749974 | BRCA2 | c.8256T>G (p.Ile2752Met) c.7887T>G (p.Ile2629Met) c.723T>G (p.Ile241Met) c.8264T>G (n.8264T>G) c.821T>G c.8160T>G (p.Ile2720Met) | |
13 | g.32363459C>A | CA387749975 | BRCA2 | c.8257C>A (p.Leu2753Ile) c.7888C>A (p.Leu2630Ile) c.724C>A (p.Leu242Ile) c.8265C>A (n.8265C>A) c.822C>A c.8161C>A (p.Leu2721Ile) | ClinVar dbSNP |
13 | g.32363459C>G | CA387749978 | BRCA2 | c.8257C>G (p.Leu2753Val) c.7888C>G (p.Leu2630Val) c.724C>G (p.Leu242Val) c.8265C>G (n.8265C>G) c.822C>G c.8161C>G (p.Leu2721Val) | dbSNP |
13 | g.32363459C>T | CA387749980 | BRCA2 | c.8257C>T (p.Leu2753Phe) c.7888C>T (p.Leu2630Phe) c.724C>T (p.Leu242Phe) c.8265C>T (n.8265C>T) c.822C>T c.8161C>T (p.Leu2721Phe) | dbSNP COSMIC COSMIC |
13 | g.32363460T>A | CA387749982 | BRCA2 | c.8258T>A (p.Leu2753His) c.7889T>A (p.Leu2630His) c.725T>A (p.Leu242His) c.8266T>A (n.8266T>A) c.823T>A c.8162T>A (p.Leu2721His) | dbSNP |
13 | g.32363460T>C | CA025543 | BRCA2 | c.8258T>C (p.Leu2753Pro) c.7889T>C (p.Leu2630Pro) c.725T>C (p.Leu242Pro) c.8266T>C (n.8266T>C) c.823T>C c.8162T>C (p.Leu2721Pro) | ClinVar dbSNP |
13 | g.32363460T>G | CA387749984 | BRCA2 | c.8258T>G (p.Leu2753Arg) c.7889T>G (p.Leu2630Arg) c.725T>G (p.Leu242Arg) c.8266T>G (n.8266T>G) c.823T>G c.8162T>G (p.Leu2721Arg) | |
13 | g.32363460T= | CA2082836947 | BRCA2 | c.8258T= (p.Leu2753=) c.7889T= (p.Leu2630=) c.725T= (p.Leu242=) c.8266T= (n.8266T=) c.823T= c.8162T= (p.Leu2721=) | |
13 | g.32363461T>A | CA483439708 | BRCA2 | c.8259T>A (p.Leu2753=) c.7890T>A (p.Leu2630=) c.726T>A (p.Leu242=) c.8267T>A (n.8267T>A) c.824T>A c.8163T>A (p.Leu2721=) | |
13 | g.32363461T>C | CA483439710 | BRCA2 | c.8259T>C (p.Leu2753=) c.7890T>C (p.Leu2630=) c.726T>C (p.Leu242=) c.8267T>C (n.8267T>C) c.824T>C c.8163T>C (p.Leu2721=) | dbSNP |
13 | g.32363461T>G | CA483439712 | BRCA2 | c.8259T>G (p.Leu2753=) c.7890T>G (p.Leu2630=) c.726T>G (p.Leu242=) c.8267T>G (n.8267T>G) c.824T>G c.8163T>G (p.Leu2721=) | |
13 | g.32363462C>A | CA387749991 | BRCA2 | c.8260C>A (p.His2754Asn) c.7891C>A (p.His2631Asn) c.727C>A (p.His243Asn) c.8268C>A (n.8268C>A) c.825C>A c.8164C>A (p.His2722Asn) | |
13 | g.32363462C>G | CA387749987 | BRCA2 | c.8260C>G (p.His2754Asp) c.7891C>G (p.His2631Asp) c.727C>G (p.His243Asp) c.8268C>G (n.8268C>G) c.825C>G c.8164C>G (p.His2722Asp) | ClinVar dbSNP |
13 | g.32363462C>T | CA387749989 | BRCA2 | c.8260C>T (p.His2754Tyr) c.7891C>T (p.His2631Tyr) c.727C>T (p.His243Tyr) c.8268C>T (n.8268C>T) c.825C>T c.8164C>T (p.His2722Tyr) | dbSNP COSMIC COSMIC |
13 | g.32363463A= | CA2082836952 | BRCA2 | c.8261A= (p.His2754=) c.7892A= (p.His2631=) c.728A= (p.His243=) c.8269A= (n.8269A=) c.826A= c.8165A= (p.His2722=) | |
13 | g.32363463A>C | CA387749993 | BRCA2 | c.8261A>C (p.His2754Pro) c.7892A>C (p.His2631Pro) c.728A>C (p.His243Pro) c.8269A>C (n.8269A>C) c.826A>C c.8165A>C (p.His2722Pro) | ClinVar |
13 | g.32363463A>G | CA387749995 | BRCA2 | c.8261A>G (p.His2754Arg) c.7892A>G (p.His2631Arg) c.728A>G (p.His243Arg) c.8269A>G (n.8269A>G) c.826A>G c.8165A>G (p.His2722Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32363463A>T | CA387749997 | BRCA2 | c.8261A>T (p.His2754Leu) c.7892A>T (p.His2631Leu) c.728A>T (p.His243Leu) c.8269A>T (n.8269A>T) c.826A>T c.8165A>T (p.His2722Leu) | ClinVar dbSNP |
13 | g.32363464T>A | CA387749999 | BRCA2 | c.8262T>A (p.His2754Gln) c.7893T>A (p.His2631Gln) c.729T>A (p.His243Gln) c.8270T>A (n.8270T>A) c.827T>A c.8166T>A (p.His2722Gln) | |
13 | g.32363464T>C | CA483439715 | BRCA2 | c.8262T>C (p.His2754=) c.7893T>C (p.His2631=) c.729T>C (p.His243=) c.8270T>C (n.8270T>C) c.827T>C c.8166T>C (p.His2722=) | ClinVar dbSNP |
13 | g.32363464T>G | CA025545 | BRCA2 | c.8262T>G (p.His2754Gln) c.7893T>G (p.His2631Gln) c.729T>G (p.His243Gln) c.8270T>G (n.8270T>G) c.827T>G c.8166T>G (p.His2722Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363464T= | CA2082836957 | BRCA2 | c.8262T= (p.His2754=) c.7893T= (p.His2631=) c.729T= (p.His243=) c.8270T= (n.8270T=) c.827T= c.8166T= (p.His2722=) | |
13 | g.32363467_32363477del | CA2580087503 | BRCA2 | c.8265_8275del (p.Ala2756GlyfsTer4) c.7896_7906del (p.Ala2633GlyfsTer4) c.732_742del (p.Ala245GlyfsTer4) c.8273_8283del (n.8273_8283del) c.830_840del c.8169_8179del (p.Ala2724GlyfsTer4) | ClinVar |
13 | g.32363465G>A | CA387750002 | BRCA2 | c.8263G>A (p.Gly2755Arg) c.7894G>A (p.Gly2632Arg) c.730G>A (p.Gly244Arg) c.8271G>A (n.8271G>A) c.828G>A c.8167G>A (p.Gly2723Arg) | ClinVar dbSNP |
13 | g.32363465G>C | CA387750004 | BRCA2 | c.8263G>C (p.Gly2755Arg) c.7894G>C (p.Gly2632Arg) c.730G>C (p.Gly244Arg) c.8271G>C (n.8271G>C) c.828G>C c.8167G>C (p.Gly2723Arg) | |
13 | g.32363465G= | CA2082836970 | BRCA2 | c.8263G= (p.Gly2755=) c.7894G= (p.Gly2632=) c.730G= (p.Gly244=) c.8271G= (n.8271G=) c.828G= c.8167G= (p.Gly2723=) | |
13 | g.32363465G>T | CA387750006 | BRCA2 | c.8263G>T (p.Gly2755Ter) c.7894G>T (p.Gly2632Ter) c.730G>T (p.Gly244Ter) c.8271G>T (n.8271G>T) c.828G>T c.8167G>T (p.Gly2723Ter) | |
13 | g.32363466G>A | CA387750008 | BRCA2 | c.8264G>A (p.Gly2755Glu) c.7895G>A (p.Gly2632Glu) c.731G>A (p.Gly244Glu) c.8272G>A (n.8272G>A) c.829G>A c.8168G>A (p.Gly2723Glu) | dbSNP |
13 | g.32363466G>C | CA387750010 | BRCA2 | c.8264G>C (p.Gly2755Ala) c.7895G>C (p.Gly2632Ala) c.731G>C (p.Gly244Ala) c.8272G>C (n.8272G>C) c.829G>C c.8168G>C (p.Gly2723Ala) | dbSNP |
13 | g.32363466G= | CA2082836980 | BRCA2 | c.8264G= (p.Gly2755=) c.7895G= (p.Gly2632=) c.731G= (p.Gly244=) c.8272G= (n.8272G=) c.829G= c.8168G= (p.Gly2723=) | |
13 | g.32363466G>T | CA10579773 | BRCA2 | c.8264G>T (p.Gly2755Val) c.7895G>T (p.Gly2632Val) c.731G>T (p.Gly244Val) c.8272G>T (n.8272G>T) c.829G>T c.8168G>T (p.Gly2723Val) | ClinVar dbSNP |
13 | g.32363467A= | CA2082836989 | BRCA2 | c.8265A= (p.Gly2755=) c.7896A= (p.Gly2632=) c.732A= (p.Gly244=) c.8273A= (n.8273A=) c.830A= c.8169A= (p.Gly2723=) | |
13 | g.32363467A>C | CA483439719 | BRCA2 | c.8265A>C (p.Gly2755=) c.7896A>C (p.Gly2632=) c.732A>C (p.Gly244=) c.8273A>C (n.8273A>C) c.830A>C c.8169A>C (p.Gly2723=) | |
13 | g.32363467A>G | CA483439720 | BRCA2 | c.8265A>G (p.Gly2755=) c.7896A>G (p.Gly2632=) c.732A>G (p.Gly244=) c.8273A>G (n.8273A>G) c.830A>G c.8169A>G (p.Gly2723=) | ClinVar dbSNP |
13 | g.32363467A>T | CA6941201 | BRCA2 | c.8265A>T (p.Gly2755=) c.7896A>T (p.Gly2632=) c.732A>T (p.Gly244=) c.8273A>T (n.8273A>T) c.830A>T c.8169A>T (p.Gly2723=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363468G>A | CA387750017 | BRCA2 | c.8266G>A (p.Ala2756Thr) c.7897G>A (p.Ala2633Thr) c.733G>A (p.Ala245Thr) c.8274G>A (n.8274G>A) c.831G>A c.8170G>A (p.Ala2724Thr) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363468G>C | CA387750019 | BRCA2 | c.8266G>C (p.Ala2756Pro) c.7897G>C (p.Ala2633Pro) c.733G>C (p.Ala245Pro) c.8274G>C (n.8274G>C) c.831G>C c.8170G>C (p.Ala2724Pro) | dbSNP |
13 | g.32363468G= | CA2082836995 | BRCA2 | c.8266G= (p.Ala2756=) c.7897G= (p.Ala2633=) c.733G= (p.Ala245=) c.8274G= (n.8274G=) c.831G= c.8170G= (p.Ala2724=) | |
13 | g.32363468G>T | CA387750015 | BRCA2 | c.8266G>T (p.Ala2756Ser) c.7897G>T (p.Ala2633Ser) c.733G>T (p.Ala245Ser) c.8274G>T (n.8274G>T) c.831G>T c.8170G>T (p.Ala2724Ser) | |
13 | g.32363468_32363469dup | CA2499222323 | BRCA2 | c.8266_8267dup (p.Glu2757GlnfsTer21) c.7897_7898dup (p.Glu2634GlnfsTer21) c.733_734dup (p.Glu246GlnfsTer21) c.8274_8275dup (n.8274_8275dup) c.831_832dup c.8170_8171dup (p.Glu2725GlnfsTer21) | ClinVar dbSNP |
13 | g.32363469C>A | CA387750025 | BRCA2 | c.8267C>A (p.Ala2756Glu) c.7898C>A (p.Ala2633Glu) c.734C>A (p.Ala245Glu) c.8275C>A (n.8275C>A) c.832C>A c.8171C>A (p.Ala2724Glu) | dbSNP |
13 | g.32363469C= | CA2082837004 | BRCA2 | c.8267C= (p.Ala2756=) c.7898C= (p.Ala2633=) c.734C= (p.Ala245=) c.8275C= (n.8275C=) c.832C= c.8171C= (p.Ala2724=) | |
13 | g.32363469C>G | CA387750021 | BRCA2 | c.8267C>G (p.Ala2756Gly) c.7898C>G (p.Ala2633Gly) c.734C>G (p.Ala245Gly) c.8275C>G (n.8275C>G) c.832C>G c.8171C>G (p.Ala2724Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32363469C>T | CA387750023 | BRCA2 | c.8267C>T (p.Ala2756Val) c.7898C>T (p.Ala2633Val) c.734C>T (p.Ala245Val) c.8275C>T (n.8275C>T) c.832C>T c.8171C>T (p.Ala2724Val) | dbSNP |
13 | g.32363469_32363470delinsCA | CA2082837009 | BRCA2 | c.8267_8268delinsCA (p.Ala2756=) c.7898_7899delinsCA (p.Ala2633=) c.734_735delinsCA (p.Ala245=) c.8275_8276delinsCA (n.8275_8276delinsCA) c.832_833delinsCA c.8171_8172delinsCA (p.Ala2724=) | |
13 | g.32363470del | CA915946891 | BRCA2 | c.8268del (p.Glu2757AsnfsTer20) c.7899del (p.Glu2634AsnfsTer20) c.735del (p.Glu246AsnfsTer20) c.8276del (n.8276del) c.833del c.8172del (p.Glu2725AsnfsTer20) | ClinVar dbSNP |
13 | g.32363470A= | CA2082837018 | BRCA2 | c.8268A= (p.Ala2756=) c.7899A= (p.Ala2633=) c.735A= (p.Ala245=) c.8276A= (n.8276A=) c.833A= c.8172A= (p.Ala2724=) | |
13 | g.32363470A>C | CA6941202 | BRCA2 | c.8268A>C (p.Ala2756=) c.7899A>C (p.Ala2633=) c.735A>C (p.Ala245=) c.8276A>C (n.8276A>C) c.833A>C c.8172A>C (p.Ala2724=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363470A>G | CA483439722 | BRCA2 | c.8268A>G (p.Ala2756=) c.7899A>G (p.Ala2633=) c.735A>G (p.Ala245=) c.8276A>G (n.8276A>G) c.833A>G c.8172A>G (p.Ala2724=) | ClinVar dbSNP |
13 | g.32363470A>T | CA483439721 | BRCA2 | c.8268A>T (p.Ala2756=) c.7899A>T (p.Ala2633=) c.735A>T (p.Ala245=) c.8276A>T (n.8276A>T) c.833A>T c.8172A>T (p.Ala2724=) | dbSNP |