Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32339554_32340264del | CA2580087342 | BRCA2 | c.5199_5909del (p.Glu1734_Ser1970del) c.4830_5540del (p.Glu1611_Ser1847del) n.5199_5909del | ClinVar |
13 | g.32340069_32340077del | CA2622600843 | BRCA2 | c.5714_5722del (p.His1905_Ser1907del) c.5345_5353del (p.His1782_Ser1784del) n.5714_5722del | gnomAD v4 |
13 | g.32340071_32340073delinsAAC | CA2082826652 | BRCA2 | c.5716_5718delinsAAC (p.Asn1906=) c.5347_5349delinsAAC (p.Asn1783=) n.5716_5718delinsAAC | |
13 | g.32340072A= | CA2082826677 | BRCA2 | c.5717A= (p.Asn1906=) c.5348A= (p.Asn1783=) n.5717A= | |
13 | g.32340072A>C | CA387786816 | BRCA2 | c.5717A>C (p.Asn1906Thr) c.5348A>C (p.Asn1783Thr) n.5717A>C | |
13 | g.32340072A>G | CA387786819 | BRCA2 | c.5717A>G (p.Asn1906Ser) c.5348A>G (p.Asn1783Ser) n.5717A>G | ClinVar dbSNP |
13 | g.32340072A>T | CA387786821 | BRCA2 | c.5717A>T (p.Asn1906Ile) c.5348A>T (p.Asn1783Ile) n.5717A>T | |
13 | g.32340072_32340073del | CA023037 | BRCA2 | c.5717_5718del (p.Asn1906IlefsTer4) c.5348_5349del (p.Asn1783IlefsTer4) n.5717_5718del | ClinVar dbSNP |
13 | g.32340072_32340073delinsAC | CA2082826675 | BRCA2 | c.5717_5718delinsAC (p.Asn1906=) c.5348_5349delinsAC (p.Asn1783=) n.5717_5718delinsAC | |
13 | g.32340072_32340076delinsACTCT | CA2082826667 | BRCA2 | c.5717_5721delinsACTCT (p.Asn1906=) c.5348_5352delinsACTCT (p.Asn1783=) n.5717_5721delinsACTCT | |
13 | g.32340073del | CA645372973 | BRCA2 | c.5718del (p.Ser1907LeufsTer2) c.5349del (p.Ser1784LeufsTer2) n.5718del | ClinVar dbSNP |
13 | g.32340073C>A | CA387786837 | BRCA2 | c.5718C>A (p.Asn1906Lys) c.5349C>A (p.Asn1783Lys) n.5718C>A | dbSNP |
13 | g.32340073C>G | CA387786833 | BRCA2 | c.5718C>G (p.Asn1906Lys) c.5349C>G (p.Asn1783Lys) n.5718C>G | dbSNP |
13 | g.32340073C>T | CA483438887 | BRCA2 | c.5718C>T (p.Asn1906=) c.5349C>T (p.Asn1783=) n.5718C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32340077_32340078del | CA023040 | BRCA2 | c.5722_5723del (p.Leu1908ArgfsTer2) c.5353_5354del (p.Leu1785ArgfsTer2) n.5722_5723del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340075_32340078del | CA023043 | BRCA2 | c.5720_5723del (p.Ser1907Ter) c.5351_5354del (p.Ser1784Ter) n.5720_5723del | ClinVar dbSNP |
13 | g.32340074T>A | CA10579666 | BRCA2 | c.5719T>A (p.Ser1907Thr) c.5350T>A (p.Ser1784Thr) n.5719T>A | ClinVar dbSNP |
13 | g.32340074T>C | CA387786841 | BRCA2 | c.5719T>C (p.Ser1907Pro) c.5350T>C (p.Ser1784Pro) n.5719T>C | ClinVar |
13 | g.32340074T>G | CA6940899 | BRCA2 | c.5719T>G (p.Ser1907Ala) c.5350T>G (p.Ser1784Ala) n.5719T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340074T= | CA2082826704 | BRCA2 | c.5719T= (p.Ser1907=) c.5350T= (p.Ser1784=) n.5719T= | |
13 | g.32340075C>A | CA387786845 | BRCA2 | c.5720C>A (p.Ser1907Tyr) c.5351C>A (p.Ser1784Tyr) n.5720C>A | dbSNP |
13 | g.32340075C= | CA2082826713 | BRCA2 | c.5720C= (p.Ser1907=) c.5351C= (p.Ser1784=) n.5720C= | |
13 | g.32340075C>G | CA387786847 | BRCA2 | c.5720C>G (p.Ser1907Cys) c.5351C>G (p.Ser1784Cys) n.5720C>G | ClinVar dbSNP |
13 | g.32340075C>T | CA387786848 | BRCA2 | c.5720C>T (p.Ser1907Phe) c.5351C>T (p.Ser1784Phe) n.5720C>T | ClinVar dbSNP |
13 | g.32340076T>A | CA483438888 | BRCA2 | c.5721T>A (p.Ser1907=) c.5352T>A (p.Ser1784=) n.5721T>A | dbSNP |
13 | g.32340076T>C | CA483438890 | BRCA2 | c.5721T>C (p.Ser1907=) c.5352T>C (p.Ser1784=) n.5721T>C | ClinVar dbSNP |
13 | g.32340076T>G | CA483438889 | BRCA2 | c.5721T>G (p.Ser1907=) c.5352T>G (p.Ser1784=) n.5721T>G | |
13 | g.32340076T= | CA2082826718 | BRCA2 | c.5721T= (p.Ser1907=) c.5352T= (p.Ser1784=) n.5721T= | |
13 | g.32340077C>A | CA387786850 | BRCA2 | c.5722C>A (p.Leu1908Ile) c.5353C>A (p.Leu1785Ile) n.5722C>A | dbSNP |
13 | g.32340077C= | CA2082826726 | BRCA2 | c.5722C= (p.Leu1908=) c.5353C= (p.Leu1785=) n.5722C= | |
13 | g.32340077C>G | CA387786852 | BRCA2 | c.5722C>G (p.Leu1908Val) c.5353C>G (p.Leu1785Val) n.5722C>G | ClinVar dbSNP |
13 | g.32340077C>T | CA247511439 | BRCA2 | c.5722C>T (p.Leu1908=) c.5353C>T (p.Leu1785=) n.5722C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32340077_32340079delinsCTA | CA2082826731 | BRCA2 | c.5722_5724delinsCTA (p.Leu1908=) c.5353_5355delinsCTA (p.Leu1785=) n.5722_5724delinsCTA | |
13 | g.32340077_32340082delinsCTAGAT | CA2082826723 | BRCA2 | c.5722_5727delinsCTAGAT (p.Leu1908=) c.5353_5358delinsCTAGAT (p.Leu1785=) n.5722_5727delinsCTAGAT | |
13 | g.32340078T>A | CA387786862 | BRCA2 | c.5723T>A (p.Leu1908Gln) c.5354T>A (p.Leu1785Gln) n.5723T>A | dbSNP |
13 | g.32340078T>C | CA023052 | BRCA2 | c.5723T>C (p.Leu1908Pro) c.5354T>C (p.Leu1785Pro) n.5723T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340078T>G | CA387786866 | BRCA2 | c.5723T>G (p.Leu1908Arg) c.5354T>G (p.Leu1785Arg) n.5723T>G | |
13 | g.32340078T= | CA2082826773 | BRCA2 | c.5723T= (p.Leu1908=) c.5354T= (p.Leu1785=) n.5723T= | |
13 | g.32340078_32340079del | CA10589327 | BRCA2 | c.5723_5724del (p.Leu1908ArgfsTer2) c.5354_5355del (p.Leu1785ArgfsTer2) n.5723_5724del | ClinVar dbSNP |
13 | g.32340078_32340079delinsTA | CA2082826760 | BRCA2 | c.5723_5724delinsTA (p.Leu1908=) c.5354_5355delinsTA (p.Leu1785=) n.5723_5724delinsTA | |
13 | g.32340078_32340082del | CA023049 | BRCA2 | c.5723_5727del (p.Leu1908GlnfsTer2) c.5354_5358del (p.Leu1785GlnfsTer2) n.5723_5727del | ClinVar dbSNP gnomAD v4 |
13 | g.32340079del | CA023054 | BRCA2 | c.5724del (p.Asp1909IlefsTer?) c.5355del (p.Asp1786IlefsTer?) n.5724del | ClinVar dbSNP |
13 | g.32340079A= | CA2082826809 | BRCA2 | c.5724A= (p.Leu1908=) c.5355A= (p.Leu1785=) n.5724A= | |
13 | g.32340079A>C | CA483438891 | BRCA2 | c.5724A>C (p.Leu1908=) c.5355A>C (p.Leu1785=) n.5724A>C | |
13 | g.32340079A>G | CA10579667 | BRCA2 | c.5724A>G (p.Leu1908=) c.5355A>G (p.Leu1785=) n.5724A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32340079A>T | CA483438892 | BRCA2 | c.5724A>T (p.Leu1908=) c.5355A>T (p.Leu1785=) n.5724A>T | dbSNP |
13 | g.32340080G>A | CA10579668 | BRCA2 | c.5725G>A (p.Asp1909Asn) c.5356G>A (p.Asp1786Asn) n.5725G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32340080G>C | CA6940900 | BRCA2 | c.5725G>C (p.Asp1909His) c.5356G>C (p.Asp1786His) n.5725G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340080G= | CA2082826820 | BRCA2 | c.5725G= (p.Asp1909=) c.5356G= (p.Asp1786=) n.5725G= | |
13 | g.32340080G>T | CA387786875 | BRCA2 | c.5725G>T (p.Asp1909Tyr) c.5356G>T (p.Asp1786Tyr) n.5725G>T | ClinVar dbSNP |