Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
13 | g.32340398_32341353del | CA2582073544 | BRCA2 | c.6043_6841+157del c.5674_6472+157del n.6043_6841+157del | |
13 | g.32340649_32340650insCAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATTCATCTGCTTTCTCTGGATTTAGTACAGCAAGTGGAAAGCAAGTTTCCATTTTAGAAAGTTCCTTACACAAAGTTAAGGGAGTGTTAGAGGAATTTGATTTAATCAGAACTGAGCATAGTCTTCACTATTCACCTACGTCT | CA2573149409 | BRCA2 | c.6294_6295insCAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATTCATCTGCTTTCTCTGGATTTAGTACAGCAAGTGGAAAGCAAGTTTCCATTTTAGAAAGTTCCTTACACAAAGTTAAGGGAGTGTTAGAGGAATTTGATTTAATCAGAACTGAGCATAGTCTTCACTATTCACCTACGTCT (p.Arg2099GlnfsTer12) c.5925_5926insCAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATTCATCTGCTTTCTCTGGATTTAGTACAGCAAGTGGAAAGCAAGTTTCCATTTTAGAAAGTTCCTTACACAAAGTTAAGGGAGTGTTAGAGGAATTTGATTTAATCAGAACTGAGCATAGTCTTCACTATTCACCTACGTCT (p.Arg1976GlnfsTer12) n.6294_6295insCAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATTCATCTGCTTTCTCTGGATTTAGTACAGCAAGTGGAAAGCAAGTTTCCATTTTAGAAAGTTCCTTACACAAAGTTAAGGGAGTGTTAGAGGAATTTGATTTAATCAGAACTGAGCATAGTCTTCACTATTCACCTACGTCT | ClinVar dbSNP |
13 | g.32340574_32340575delinsAC | CA2082811706 | BRCA2 | c.6219_6220delinsAC (p.Leu2073=) c.5850_5851delinsAC (p.Leu1950=) n.6219_6220delinsAC | |
13 | g.32340574_32340577delinsACAC | CA2082811703 | BRCA2 | c.6219_6222delinsACAC (p.Leu2073=) c.5850_5853delinsACAC (p.Leu1950=) n.6219_6222delinsACAC | |
13 | g.32340577_32340578dup | CA2695199688 | BRCA2 | c.6222_6223dup (p.Lys2075ThrfsTer7) c.5853_5854dup (p.Lys1952ThrfsTer7) n.6222_6223dup | |
13 | g.32340577_32340578del | CA2582341810 | BRCA2 | c.6222_6223del (p.His2074GlnfsTer3) c.5853_5854del (p.His1951GlnfsTer3) n.6222_6223del | |
13 | g.32340575del | CA16614193 | BRCA2 | c.6220del (p.His2074ThrfsTer7) c.5851del (p.His1951ThrfsTer7) n.6220del | ClinVar dbSNP |
13 | g.32340575C>A | CA023770 | BRCA2 | c.6220C>A (p.His2074Asn) c.5851C>A (p.His1951Asn) n.6220C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340575C= | CA2082811725 | BRCA2 | c.6220C= (p.His2074=) c.5851C= (p.His1951=) n.6220C= | |
13 | g.32340575C>G | CA387788869 | BRCA2 | c.6220C>G (p.His2074Asp) c.5851C>G (p.His1951Asp) n.6220C>G | dbSNP COSMIC COSMIC |
13 | g.32340575C>T | CA6940936 | BRCA2 | c.6220C>T (p.His2074Tyr) c.5851C>T (p.His1951Tyr) n.6220C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340575_32340577delinsAA | CA023768 | BRCA2 | c.6220_6222delinsAA (p.His2074LysfsTer7) c.5851_5853delinsAA (p.His1951LysfsTer7) n.6220_6222delinsAA | ClinVar dbSNP |
13 | g.32340576A>C | CA387788870 | BRCA2 | c.6221A>C (p.His2074Pro) c.5852A>C (p.His1951Pro) n.6221A>C | dbSNP |
13 | g.32340576A>G | CA387788871 | BRCA2 | c.6221A>G (p.His2074Arg) c.5852A>G (p.His1951Arg) n.6221A>G | ClinVar dbSNP |
13 | g.32340576A>T | CA387788872 | BRCA2 | c.6221A>T (p.His2074Leu) c.5852A>T (p.His1951Leu) n.6221A>T | dbSNP |
13 | g.32340577C>A | CA387788873 | BRCA2 | c.6222C>A (p.His2074Gln) c.5853C>A (p.His1951Gln) n.6222C>A | dbSNP gnomAD v4 |
13 | g.32340577C= | CA2082811755 | BRCA2 | c.6222C= (p.His2074=) c.5853C= (p.His1951=) n.6222C= | |
13 | g.32340577C>G | CA387788874 | BRCA2 | c.6222C>G (p.His2074Gln) c.5853C>G (p.His1951Gln) n.6222C>G | ClinVar dbSNP |
13 | g.32340577C>T | CA483438692 | BRCA2 | c.6222C>T (p.His2074=) c.5853C>T (p.His1951=) n.6222C>T | dbSNP |
13 | g.32340577_32340583delinsCAAAGTT | CA2082811762 | BRCA2 | c.6222_6228delinsCAAAGTT (p.His2074=) c.5853_5859delinsCAAAGTT (p.His1951=) n.6222_6228delinsCAAAGTT | |
13 | g.32340578A= | CA2082811782 | BRCA2 | c.6223A= (p.Lys2075=) c.5854A= (p.Lys1952=) n.6223A= | |
13 | g.32340578A>C | CA387788875 | BRCA2 | c.6223A>C (p.Lys2075Gln) c.5854A>C (p.Lys1952Gln) n.6223A>C | |
13 | g.32340578A>G | CA387788876 | BRCA2 | c.6223A>G (p.Lys2075Glu) c.5854A>G (p.Lys1952Glu) n.6223A>G | dbSNP |
13 | g.32340578A>T | CA387788877 | BRCA2 | c.6223A>T (p.Lys2075Ter) c.5854A>T (p.Lys1952Ter) n.6223A>T | ClinVar dbSNP |
13 | g.32340580dup | CA10589360 | BRCA2 | c.6225dup (p.Val2076SerfsTer2) c.5856dup (p.Val1953SerfsTer2) n.6225dup | ClinVar dbSNP |
13 | g.32340579_32340580del | CA2499222225 | BRCA2 | c.6224_6225del (p.Lys2075SerfsTer2) c.5855_5856del (p.Lys1952SerfsTer2) n.6224_6225del | ClinVar |
13 | g.32340578_32340582del | CA2580087863 | BRCA2 | c.6223_6227del (p.Lys2075Ter) c.5854_5858del (p.Lys1952Ter) n.6223_6227del | ClinVar |
13 | g.32340580_32340585del | CA1139663232 | BRCA2 | c.6225_6230del (p.Val2076_Lys2077del) c.5856_5861del (p.Val1953_Lys1954del) n.6225_6230del | ClinVar dbSNP |
13 | g.32340579A= | CA2082811792 | BRCA2 | c.6224A= (p.Lys2075=) c.5855A= (p.Lys1952=) n.6224A= | |
13 | g.32340579A>C | CA387788880 | BRCA2 | c.6224A>C (p.Lys2075Thr) c.5855A>C (p.Lys1952Thr) n.6224A>C | |
13 | g.32340579A>G | CA387788879 | BRCA2 | c.6224A>G (p.Lys2075Arg) c.5855A>G (p.Lys1952Arg) n.6224A>G | ClinVar dbSNP |
13 | g.32340579A>T | CA387788878 | BRCA2 | c.6224A>T (p.Lys2075Ile) c.5855A>T (p.Lys1952Ile) n.6224A>T | dbSNP |
13 | g.32340579_32340583delinsAAGTT | CA2082811791 | BRCA2 | c.6224_6228delinsAAGTT (p.Lys2075=) c.5855_5859delinsAAGTT (p.Lys1952=) n.6224_6228delinsAAGTT | |
13 | g.32340582_32340586del | CA2580087864 | BRCA2 | c.6227_6231del (p.Val2076GlyfsTer7) c.5858_5862del (p.Val1953GlyfsTer7) n.6227_6231del | ClinVar |
13 | g.32340580A= | CA2082811810 | BRCA2 | c.6225A= (p.Lys2075=) c.5856A= (p.Lys1952=) n.6225A= | |
13 | g.32340580A>C | CA023772 | BRCA2 | c.6225A>C (p.Lys2075Asn) c.5856A>C (p.Lys1952Asn) n.6225A>C | ClinVar dbSNP ExAC gnomAD v4 |
13 | g.32340580A>G | CA483438699 | BRCA2 | c.6225A>G (p.Lys2075=) c.5856A>G (p.Lys1952=) n.6225A>G | |
13 | g.32340580A>T | CA387788881 | BRCA2 | c.6225A>T (p.Lys2075Asn) c.5856A>T (p.Lys1952Asn) n.6225A>T | dbSNP |
13 | g.32340580_32340581delinsAG | CA2082811808 | BRCA2 | c.6225_6226delinsAG (p.Lys2075=) c.5856_5857delinsAG (p.Lys1952=) n.6225_6226delinsAG | |
13 | g.32340581_32340584del | CA023774 | BRCA2 | c.6226_6229del (p.Val2076ArgfsTer4) c.5857_5860del (p.Val1953ArgfsTer4) n.6226_6229del | ClinVar dbSNP |
13 | g.32340581del | CA1139663233 | BRCA2 | c.6226del (p.Val2076LeufsTer5) c.5857del (p.Val1953LeufsTer5) n.6226del | ClinVar dbSNP |
13 | g.32340581G>A | CA6940937 | BRCA2 | c.6226G>A (p.Val2076Ile) c.5857G>A (p.Val1953Ile) n.6226G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340581G>C | CA387788883 | BRCA2 | c.6226G>C (p.Val2076Leu) c.5857G>C (p.Val1953Leu) n.6226G>C | |
13 | g.32340581G= | CA2082811823 | BRCA2 | c.6226G= (p.Val2076=) c.5857G= (p.Val1953=) n.6226G= | |
13 | g.32340581G>T | CA387788882 | BRCA2 | c.6226G>T (p.Val2076Phe) c.5857G>T (p.Val1953Phe) n.6226G>T | |
13 | g.32340582T>A | CA387788884 | BRCA2 | c.6227T>A (p.Val2076Asp) c.5858T>A (p.Val1953Asp) n.6227T>A | dbSNP |
13 | g.32340582T>C | CA387788885 | BRCA2 | c.6227T>C (p.Val2076Ala) c.5858T>C (p.Val1953Ala) n.6227T>C | dbSNP |
13 | g.32340582T>G | CA387788886 | BRCA2 | c.6227T>G (p.Val2076Gly) c.5858T>G (p.Val1953Gly) n.6227T>G | dbSNP |
13 | g.32340583T>A | CA483438700 | BRCA2 | c.6228T>A (p.Val2076=) c.5859T>A (p.Val1953=) n.6228T>A |