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.32337556_32337600delinsTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA | CA2082815219 | BRCA2 | c.3201_3245delinsTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA (p.Thr1067=) c.2832_2876delinsTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA (p.Thr944=) n.3201_3245delinsTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA | |
13 | g.32337557_32337600del | CA913190906 | BRCA2 | c.3202_3245del (p.Val1068LysfsTer2) c.2833_2876del (p.Val945LysfsTer2) n.3202_3245del | ClinVar dbSNP |
13 | g.32337590dup | CA913190907 | BRCA2 | c.3235dup (p.Ser1079PhefsTer2) c.2866dup (p.Ser956PhefsTer2) n.3235dup | ClinVar dbSNP |
13 | g.32337590del | CA017602 | BRCA2 | c.3235del (p.Ser1079LeufsTer8) c.2866del (p.Ser956LeufsTer8) n.3235del | ClinVar dbSNP |
13 | g.32337590T>A | CA387775930 | BRCA2 | c.3235T>A (p.Ser1079Thr) c.2866T>A (p.Ser956Thr) n.3235T>A | gnomAD v4 |
13 | g.32337590T>C | CA387775931 | BRCA2 | c.3235T>C (p.Ser1079Pro) c.2866T>C (p.Ser956Pro) n.3235T>C | |
13 | g.32337590T>G | CA387775932 | BRCA2 | c.3235T>G (p.Ser1079Ala) c.2866T>G (p.Ser956Ala) n.3235T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337590T= | CA2082815435 | BRCA2 | c.3235T= (p.Ser1079=) c.2866T= (p.Ser956=) n.3235T= | |
13 | g.32337591C>A | CA387775933 | BRCA2 | c.3236C>A (p.Ser1079Tyr) c.2867C>A (p.Ser956Tyr) n.3236C>A | ClinVar dbSNP |
13 | g.32337591C= | CA2082815443 | BRCA2 | c.3236C= (p.Ser1079=) c.2867C= (p.Ser956=) n.3236C= | |
13 | g.32337591C>G | CA387775934 | BRCA2 | c.3236C>G (p.Ser1079Cys) c.2867C>G (p.Ser956Cys) n.3236C>G | dbSNP |
13 | g.32337591C>T | CA387775935 | BRCA2 | c.3236C>T (p.Ser1079Phe) c.2867C>T (p.Ser956Phe) n.3236C>T | ClinVar dbSNP |
13 | g.32337592T>A | CA483437576 | BRCA2 | c.3237T>A (p.Ser1079=) c.2868T>A (p.Ser956=) n.3237T>A | dbSNP |
13 | g.32337592T>C | CA483437579 | BRCA2 | c.3237T>C (p.Ser1079=) c.2868T>C (p.Ser956=) n.3237T>C | dbSNP |
13 | g.32337592T>G | CA483437577 | BRCA2 | c.3237T>G (p.Ser1079=) c.2868T>G (p.Ser956=) n.3237T>G | |
13 | g.32337593G>A | CA387775937 | BRCA2 | c.3238G>A (p.Asp1080Asn) c.2869G>A (p.Asp957Asn) n.3238G>A | dbSNP |
13 | g.32337593G>C | CA16619693 | BRCA2 | c.3238G>C (p.Asp1080His) c.2869G>C (p.Asp957His) n.3238G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32337593G= | CA2082815456 | BRCA2 | c.3238G= (p.Asp1080=) c.2869G= (p.Asp957=) n.3238G= | |
13 | g.32337593G>T | CA387775936 | BRCA2 | c.3238G>T (p.Asp1080Tyr) c.2869G>T (p.Asp957Tyr) n.3238G>T | COSMIC COSMIC |
13 | g.32337594A= | CA2082815464 | BRCA2 | c.3239A= (p.Asp1080=) c.2870A= (p.Asp957=) n.3239A= | |
13 | g.32337594A>C | CA387775938 | BRCA2 | c.3239A>C (p.Asp1080Ala) c.2870A>C (p.Asp957Ala) n.3239A>C | |
13 | g.32337594A>G | CA387775939 | BRCA2 | c.3239A>G (p.Asp1080Gly) c.2870A>G (p.Asp957Gly) n.3239A>G | dbSNP |
13 | g.32337594A>T | CA387775940 | BRCA2 | c.3239A>T (p.Asp1080Val) c.2870A>T (p.Asp957Val) n.3239A>T | ClinVar dbSNP |
13 | g.32337594_32337595delinsAT | CA2082815463 | BRCA2 | c.3239_3240delinsAT (p.Asp1080=) c.2870_2871delinsAT (p.Asp957=) n.3239_3240delinsAT | |
13 | g.32337595T>A | CA387775941 | BRCA2 | c.3240T>A (p.Asp1080Glu) c.2871T>A (p.Asp957Glu) n.3240T>A | dbSNP |
13 | g.32337595T>C | CA483437580 | BRCA2 | c.3240T>C (p.Asp1080=) c.2871T>C (p.Asp957=) n.3240T>C | dbSNP |
13 | g.32337595T>G | CA387775942 | BRCA2 | c.3240T>G (p.Asp1080Glu) c.2871T>G (p.Asp957Glu) n.3240T>G | dbSNP |
13 | g.32337595T= | CA2082815471 | BRCA2 | c.3240T= (p.Asp1080=) c.2871T= (p.Asp957=) n.3240T= | |
13 | g.32337596del | CA915948449 | BRCA2 | c.3241del (p.Cys1081ValfsTer6) c.2872del (p.Cys958ValfsTer6) n.3241del | ClinVar dbSNP |
13 | g.32337596T>A | CA387775945 | BRCA2 | c.3241T>A (p.Cys1081Ser) c.2872T>A (p.Cys958Ser) n.3241T>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337596T>C | CA387775943 | BRCA2 | c.3241T>C (p.Cys1081Arg) c.2872T>C (p.Cys958Arg) n.3241T>C | ClinVar dbSNP |
13 | g.32337596T>G | CA387775944 | BRCA2 | c.3241T>G (p.Cys1081Gly) c.2872T>G (p.Cys958Gly) n.3241T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337596T= | CA2082815480 | BRCA2 | c.3241T= (p.Cys1081=) c.2872T= (p.Cys958=) n.3241T= | |
13 | g.32337597G>A | CA16619694 | BRCA2 | c.3242G>A (p.Cys1081Tyr) c.2873G>A (p.Cys958Tyr) n.3242G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337597G>C | CA387775946 | BRCA2 | c.3242G>C (p.Cys1081Ser) c.2873G>C (p.Cys958Ser) n.3242G>C | dbSNP |
13 | g.32337597G= | CA2082815493 | BRCA2 | c.3242G= (p.Cys1081=) c.2873G= (p.Cys958=) n.3242G= | |
13 | g.32337597G>T | CA6940680 | BRCA2 | c.3242G>T (p.Cys1081Phe) c.2873G>T (p.Cys958Phe) n.3242G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337598T>A | CA387775947 | BRCA2 | c.3243T>A (p.Cys1081Ter) c.2874T>A (p.Cys958Ter) n.3243T>A | |
13 | g.32337598T>C | CA483437581 | BRCA2 | c.3243T>C (p.Cys1081=) c.2874T>C (p.Cys958=) n.3243T>C | |
13 | g.32337598T>G | CA387775948 | BRCA2 | c.3243T>G (p.Cys1081Trp) c.2874T>G (p.Cys958Trp) n.3243T>G | |
13 | g.32337598_32337599delinsTA | CA2082815499 | BRCA2 | c.3243_3244delinsTA (p.Cys1081=) c.2874_2875delinsTA (p.Cys958=) n.3243_3244delinsTA | |
13 | g.32337599A= | CA2082815510 | BRCA2 | c.3244A= (p.Lys1082=) c.2875A= (p.Lys959=) n.3244A= | |
13 | g.32337599A>C | CA387775949 | BRCA2 | c.3244A>C (p.Lys1082Gln) c.2875A>C (p.Lys959Gln) n.3244A>C | |
13 | g.32337599A>G | CA387775951 | BRCA2 | c.3244A>G (p.Lys1082Glu) c.2875A>G (p.Lys959Glu) n.3244A>G | gnomAD v4 |
13 | g.32337599A>T | CA10589192 | BRCA2 | c.3244A>T (p.Lys1082Ter) c.2875A>T (p.Lys959Ter) n.3244A>T | ClinVar dbSNP |
13 | g.32337603dup | CA10589194 | BRCA2 | c.3248dup (p.Asn1083LysfsTer2) c.2879dup (p.Asn960LysfsTer2) n.3248dup | ClinVar dbSNP |
13 | g.32337603del | CA10589193 | BRCA2 | c.3248del (p.Asn1083IlefsTer4) c.2879del (p.Asn960IlefsTer4) n.3248del | ClinVar dbSNP |
13 | g.32337600A= | CA2082815522 | BRCA2 | c.3245A= (p.Lys1082=) c.2876A= (p.Lys959=) n.3245A= | |
13 | g.32337600A>C | CA387775954 | BRCA2 | c.3245A>C (p.Lys1082Thr) c.2876A>C (p.Lys959Thr) n.3245A>C |