Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
13 | g.32336269_32337451del | CA2581463478 | BRCA2 | c.1914_3096del (p.Leu639IlefsTer10) c.1545_2727del (p.Leu516IlefsTer10) n.1914_3096del | |
13 | g.32337091A>C | CA483437324 | BRCA2 | c.2736A>C (p.Thr912=) c.2367A>C (p.Thr789=) n.2736A>C | |
13 | g.32337091A>G | CA483437325 | BRCA2 | c.2736A>G (p.Thr912=) c.2367A>G (p.Thr789=) n.2736A>G | ClinVar |
13 | g.32337091A>T | CA483437323 | BRCA2 | c.2736A>T (p.Thr912=) c.2367A>T (p.Thr789=) n.2736A>T | |
13 | g.32337091_32337096delinsAGACTT | CA2082810879 | BRCA2 | c.2736_2741delinsAGACTT (p.Thr912=) c.2367_2372delinsAGACTT (p.Thr789=) n.2736_2741delinsAGACTT | |
13 | g.32337092G>A | CA387773612 | BRCA2 | c.2737G>A (p.Asp913Asn) c.2368G>A (p.Asp790Asn) n.2737G>A | dbSNP |
13 | g.32337092G>C | CA387773610 | BRCA2 | c.2737G>C (p.Asp913His) c.2368G>C (p.Asp790His) n.2737G>C | dbSNP |
13 | g.32337092G>T | CA387773611 | BRCA2 | c.2737G>T (p.Asp913Tyr) c.2368G>T (p.Asp790Tyr) n.2737G>T | gnomAD v4 |
13 | g.32337098_32337102del | CA016222 | BRCA2 | c.2743_2747del (p.Thr915CysfsTer19) c.2374_2378del (p.Thr792CysfsTer19) n.2743_2747del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337093A>C | CA387773613 | BRCA2 | c.2738A>C (p.Asp913Ala) c.2369A>C (p.Asp790Ala) n.2738A>C | |
13 | g.32337093A>G | CA387773614 | BRCA2 | c.2738A>G (p.Asp913Gly) c.2369A>G (p.Asp790Gly) n.2738A>G | ClinVar |
13 | g.32337093A>T | CA387773615 | BRCA2 | c.2738A>T (p.Asp913Val) c.2369A>T (p.Asp790Val) n.2738A>T | |
13 | g.32337094C>A | CA387773616 | BRCA2 | c.2739C>A (p.Asp913Glu) c.2370C>A (p.Asp790Glu) n.2739C>A | dbSNP |
13 | g.32337094C= | CA2082810896 | BRCA2 | c.2739C= (p.Asp913=) c.2370C= (p.Asp790=) n.2739C= | |
13 | g.32337094C>G | CA387773617 | BRCA2 | c.2739C>G (p.Asp913Glu) c.2370C>G (p.Asp790Glu) n.2739C>G | dbSNP |
13 | g.32337094C>T | CA016192 | BRCA2 | c.2739C>T (p.Asp913=) c.2370C>T (p.Asp790=) n.2739C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337095T>A | CA387773618 | BRCA2 | c.2740T>A (p.Leu914Met) c.2371T>A (p.Leu791Met) n.2740T>A | dbSNP |
13 | g.32337095T>C | CA483437326 | BRCA2 | c.2740T>C (p.Leu914=) c.2371T>C (p.Leu791=) n.2740T>C | ClinVar |
13 | g.32337095T>G | CA387773619 | BRCA2 | c.2740T>G (p.Leu914Val) c.2371T>G (p.Leu791Val) n.2740T>G | |
13 | g.32337096T>A | CA387773620 | BRCA2 | c.2741T>A (p.Leu914Ter) c.2372T>A (p.Leu791Ter) n.2741T>A | dbSNP |
13 | g.32337096T>C | CA387773621 | BRCA2 | c.2741T>C (p.Leu914Ser) c.2372T>C (p.Leu791Ser) n.2741T>C | |
13 | g.32337096T>G | CA387773622 | BRCA2 | c.2741T>G (p.Leu914Trp) c.2372T>G (p.Leu791Trp) n.2741T>G | |
13 | g.32337097G>A | CA483437327 | BRCA2 | c.2742G>A (p.Leu914=) c.2373G>A (p.Leu791=) n.2742G>A | ClinVar dbSNP |
13 | g.32337097G>C | CA6940627 | BRCA2 | c.2742G>C (p.Leu914Phe) c.2373G>C (p.Leu791Phe) n.2742G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337097G= | CA2082810903 | BRCA2 | c.2742G= (p.Leu914=) c.2373G= (p.Leu791=) n.2742G= | |
13 | g.32337097G>T | CA387773623 | BRCA2 | c.2742G>T (p.Leu914Phe) c.2373G>T (p.Leu791Phe) n.2742G>T | ClinVar dbSNP |
13 | g.32337098A>C | CA387773624 | BRCA2 | c.2743A>C (p.Thr915Pro) c.2374A>C (p.Thr792Pro) n.2743A>C | dbSNP |
13 | g.32337098A>G | CA387773625 | BRCA2 | c.2743A>G (p.Thr915Ala) c.2374A>G (p.Thr792Ala) n.2743A>G | dbSNP |
13 | g.32337098A>T | CA387773626 | BRCA2 | c.2743A>T (p.Thr915Ser) c.2374A>T (p.Thr792Ser) n.2743A>T | ClinVar |
13 | g.32337099C>A | CA387773627 | BRCA2 | c.2744C>A (p.Thr915Asn) c.2375C>A (p.Thr792Asn) n.2744C>A | ClinVar |
13 | g.32337099C= | CA2082810913 | BRCA2 | c.2744C= (p.Thr915=) c.2375C= (p.Thr792=) n.2744C= | |
13 | g.32337099C>G | CA016236 | BRCA2 | c.2744C>G (p.Thr915Ser) c.2375C>G (p.Thr792Ser) n.2744C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337099C>T | CA387773628 | BRCA2 | c.2744C>T (p.Thr915Ile) c.2375C>T (p.Thr792Ile) n.2744C>T | ClinVar dbSNP |
13 | g.32337099_32337101delinsCTT | CA2082810915 | BRCA2 | c.2744_2746delinsCTT (p.Thr915=) c.2375_2377delinsCTT (p.Thr792=) n.2744_2746delinsCTT | |
13 | g.32337100T>A | CA483437330 | BRCA2 | c.2745T>A (p.Thr915=) c.2376T>A (p.Thr792=) n.2745T>A | dbSNP |
13 | g.32337100T>C | CA483437329 | BRCA2 | c.2745T>C (p.Thr915=) c.2376T>C (p.Thr792=) n.2745T>C | |
13 | g.32337100T>G | CA483437328 | BRCA2 | c.2745T>G (p.Thr915=) c.2376T>G (p.Thr792=) n.2745T>G | |
13 | g.32337100_32337101del | CA10589168 | BRCA2 | c.2745_2746del (p.Val917LysfsTer18) c.2376_2377del (p.Val794LysfsTer18) n.2745_2746del | ClinVar dbSNP |
13 | g.32337101_32337105dup | CA2573149398 | BRCA2 | c.2746_2750dup (p.Asn918ValfsTer2) c.2377_2381dup (p.Asn795ValfsTer2) n.2746_2750dup | ClinVar dbSNP |
13 | g.32337101T>A | CA387773631 | BRCA2 | c.2746T>A (p.Cys916Ser) c.2377T>A (p.Cys793Ser) n.2746T>A | dbSNP |
13 | g.32337101T>C | CA387773630 | BRCA2 | c.2746T>C (p.Cys916Arg) c.2377T>C (p.Cys793Arg) n.2746T>C | |
13 | g.32337101T>G | CA387773629 | BRCA2 | c.2746T>G (p.Cys916Gly) c.2377T>G (p.Cys793Gly) n.2746T>G | |
13 | g.32337102G>A | CA387773632 | BRCA2 | c.2747G>A (p.Cys916Tyr) c.2378G>A (p.Cys793Tyr) n.2747G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32337102G>C | CA387773633 | BRCA2 | c.2747G>C (p.Cys916Ser) c.2378G>C (p.Cys793Ser) n.2747G>C | ClinVar gnomAD v4 |
13 | g.32337102G= | CA2082810930 | BRCA2 | c.2747G= (p.Cys916=) c.2378G= (p.Cys793=) n.2747G= | |
13 | g.32337102G>T | CA387773634 | BRCA2 | c.2747G>T (p.Cys916Phe) c.2378G>T (p.Cys793Phe) n.2747G>T | ClinVar dbSNP |
13 | g.32337102_32337103delinsGT | CA2082810929 | BRCA2 | c.2747_2748delinsGT (p.Cys916=) c.2378_2379delinsGT (p.Cys793=) n.2747_2748delinsGT | |
13 | g.32337103del | CA10589169 | BRCA2 | c.2748del (p.Cys916TrpfsTer2) c.2379del (p.Cys793TrpfsTer2) n.2748del | ClinVar dbSNP |
13 | g.32337103T>A | CA016242 | BRCA2 | c.2748T>A (p.Cys916Ter) c.2379T>A (p.Cys793Ter) n.2748T>A | ClinVar dbSNP |