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.32336943dup | CA015689 | BRCA2 | c.2588dup (p.Asn863LysfsTer18) c.2219dup (p.Asn740LysfsTer18) n.2588dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32336943del | CA2082809665 | BRCA2 | c.2588del (p.Asn863IlefsTer11) c.2219del (p.Asn740IlefsTer11) n.2588del | ClinVar dbSNP gnomAD v4 |
13 | g.32336938_32336945delinsAAAAAATC | CA2082809673 | BRCA2 | c.2583_2590delinsAAAAAATC (p.Gln861=) c.2214_2221delinsAAAAAATC (p.Gln738=) n.2583_2590delinsAAAAAATC | |
13 | g.32336941_32336947del | CA015698 | BRCA2 | c.2586_2592del (p.Asn863LysfsTer9) c.2217_2223del (p.Asn740LysfsTer9) n.2586_2592del | ClinVar dbSNP |
13 | g.32336941A>C | CA387772600 | BRCA2 | c.2586A>C (p.Lys862Asn) c.2217A>C (p.Lys739Asn) n.2586A>C | |
13 | g.32336941A>G | CA483437311 | BRCA2 | c.2586A>G (p.Lys862=) c.2217A>G (p.Lys739=) n.2586A>G | dbSNP |
13 | g.32336941A>T | CA387772601 | BRCA2 | c.2586A>T (p.Lys862Asn) c.2217A>T (p.Lys739Asn) n.2586A>T | dbSNP |
13 | g.32336942A>C | CA387772602 | BRCA2 | c.2587A>C (p.Asn863His) c.2218A>C (p.Asn740His) n.2587A>C | ClinVar dbSNP gnomAD v4 |
13 | g.32336942A>G | CA387772603 | BRCA2 | c.2587A>G (p.Asn863Asp) c.2218A>G (p.Asn740Asp) n.2587A>G | |
13 | g.32336942A>T | CA387772604 | BRCA2 | c.2587A>T (p.Asn863Tyr) c.2218A>T (p.Asn740Tyr) n.2587A>T | ClinVar |
13 | g.32336943A= | CA2082809701 | BRCA2 | c.2588A= (p.Asn863=) c.2219A= (p.Asn740=) n.2588A= | |
13 | g.32336943A>C | CA387772605 | BRCA2 | c.2588A>C (p.Asn863Thr) c.2219A>C (p.Asn740Thr) n.2588A>C | ClinVar dbSNP |
13 | g.32336943A>G | CA6940615 | BRCA2 | c.2588A>G (p.Asn863Ser) c.2219A>G (p.Asn740Ser) n.2588A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32336943A>T | CA387772606 | BRCA2 | c.2588A>T (p.Asn863Ile) c.2219A>T (p.Asn740Ile) n.2588A>T | dbSNP |
13 | g.32336943_32336944delinsAT | CA2082809699 | BRCA2 | c.2588_2589delinsAT (p.Asn863=) c.2219_2220delinsAT (p.Asn740=) n.2588_2589delinsAT | |
13 | g.32336943_32336944insACCAAACACACCCAAC | CA2798719186 | BRCA2 | c.2588_2589insACCAAACACACCCAAC (p.Asn863LysfsTer23) c.2219_2220insACCAAACACACCCAAC (p.Asn740LysfsTer23) n.2588_2589insACCAAACACACCCAAC | |
13 | g.32336944del | CA015722 | BRCA2 | c.2589del (p.Gln864LysfsTer10) c.2220del (p.Gln741LysfsTer10) n.2589del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32336944T>A | CA015734 | BRCA2 | c.2589T>A (p.Asn863Lys) c.2220T>A (p.Asn740Lys) n.2589T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32336944T>C | CA483437312 | BRCA2 | c.2589T>C (p.Asn863=) c.2220T>C (p.Asn740=) n.2589T>C | |
13 | g.32336944T>G | CA387772607 | BRCA2 | c.2589T>G (p.Asn863Lys) c.2220T>G (p.Asn740Lys) n.2589T>G | |
13 | g.32336944T= | CA2082809719 | BRCA2 | c.2589T= (p.Asn863=) c.2220T= (p.Asn740=) n.2589T= | |
13 | g.32336945C>A | CA387772608 | BRCA2 | c.2590C>A (p.Gln864Lys) c.2221C>A (p.Gln741Lys) n.2590C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32336945C= | CA2082809729 | BRCA2 | c.2590C= (p.Gln864=) c.2221C= (p.Gln741=) n.2590C= | |
13 | g.32336945C>G | CA387772609 | BRCA2 | c.2590C>G (p.Gln864Glu) c.2221C>G (p.Gln741Glu) n.2590C>G | dbSNP |
13 | g.32336945C>T | CA16614253 | BRCA2 | c.2590C>T (p.Gln864Ter) c.2221C>T (p.Gln741Ter) n.2590C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32336946A= | CA2082809737 | BRCA2 | c.2591A= (p.Gln864=) c.2222A= (p.Gln741=) n.2591A= | |
13 | g.32336946A>C | CA387772610 | BRCA2 | c.2591A>C (p.Gln864Pro) c.2222A>C (p.Gln741Pro) n.2591A>C | ClinVar dbSNP |
13 | g.32336946A>G | CA387772611 | BRCA2 | c.2591A>G (p.Gln864Arg) c.2222A>G (p.Gln741Arg) n.2591A>G | dbSNP |
13 | g.32336946A>T | CA10579539 | BRCA2 | c.2591A>T (p.Gln864Leu) c.2222A>T (p.Gln741Leu) n.2591A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32336947del | CA2573053803 | BRCA2 | c.2592del (p.Glu865LysfsTer9) c.2223del (p.Glu742LysfsTer9) n.2592del | ClinVar dbSNP |
13 | g.32336947A>C | CA387772612 | BRCA2 | c.2592A>C (p.Gln864His) c.2223A>C (p.Gln741His) n.2592A>C | |
13 | g.32336947A>G | CA483437313 | BRCA2 | c.2592A>G (p.Gln864=) c.2223A>G (p.Gln741=) n.2592A>G | ClinVar dbSNP |
13 | g.32336947A>T | CA387772613 | BRCA2 | c.2592A>T (p.Gln864His) c.2223A>T (p.Gln741His) n.2592A>T | dbSNP |
13 | g.32336947_32336948insCCAAACACACCCAACACA | CA2798719187 | BRCA2 | c.2592_2593insCCAAACACACCCAACACA (p.Gln864_Glu865insProAsnThrProAsnThr) c.2223_2224insCCAAACACACCCAACACA (p.Gln741_Glu742insProAsnThrProAsnThr) n.2592_2593insCCAAACACACCCAACACA | |
13 | g.32336948G>A | CA387772614 | BRCA2 | c.2593G>A (p.Glu865Lys) c.2224G>A (p.Glu742Lys) n.2593G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32336948G>C | CA015745 | BRCA2 | c.2593G>C (p.Glu865Gln) c.2224G>C (p.Glu742Gln) n.2593G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32336948G= | CA2082809756 | BRCA2 | c.2593G= (p.Glu865=) c.2224G= (p.Glu742=) n.2593G= | |
13 | g.32336948G>T | CA10589164 | BRCA2 | c.2593G>T (p.Glu865Ter) c.2224G>T (p.Glu742Ter) n.2593G>T | ClinVar dbSNP |
13 | g.32336948_32336949delinsGA | CA2082809759 | BRCA2 | c.2593_2594delinsGA (p.Glu865=) c.2224_2225delinsGA (p.Glu742=) n.2593_2594delinsGA | |
13 | g.32336948_32336952delinsGAAGA | CA2082809763 | BRCA2 | c.2593_2597delinsGAAGA (p.Glu865=) c.2224_2228delinsGAAGA (p.Glu742=) n.2593_2597delinsGAAGA | |
13 | g.32336949A= | CA2082809775 | BRCA2 | c.2594A= (p.Glu865=) c.2225A= (p.Glu742=) n.2594A= | |
13 | g.32336949A>C | CA387772617 | BRCA2 | c.2594A>C (p.Glu865Ala) c.2225A>C (p.Glu742Ala) n.2594A>C | |
13 | g.32336949A>G | CA387772616 | BRCA2 | c.2594A>G (p.Glu865Gly) c.2225A>G (p.Glu742Gly) n.2594A>G | ClinVar dbSNP |
13 | g.32336949A>T | CA387772615 | BRCA2 | c.2594A>T (p.Glu865Val) c.2225A>T (p.Glu742Val) n.2594A>T | |
13 | g.32336950del | CA015752 | BRCA2 | c.2595del (p.Glu866LysfsTer8) c.2226del (p.Glu743LysfsTer8) n.2595del | ClinVar dbSNP |
13 | g.32336951_32336954del | CA015758 | BRCA2 | c.2596_2599del (p.Glu866LeufsTer7) c.2227_2230del (p.Glu743LeufsTer7) n.2596_2599del | ClinVar dbSNP |
13 | g.32336950A>C | CA387772618 | BRCA2 | c.2595A>C (p.Glu865Asp) c.2226A>C (p.Glu742Asp) n.2595A>C | |
13 | g.32336950A>G | CA483437314 | BRCA2 | c.2595A>G (p.Glu865=) c.2226A>G (p.Glu742=) n.2595A>G |