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.32339564_32339628dup | CA915948485 | BRCA2 | c.5209_5273dup (p.Asn1758LysfsTer5) c.4840_4904dup (p.Asn1635LysfsTer5) n.5209_5273dup | ClinVar dbSNP |
13 | g.32339598_32339601dup | CA2082820893 | BRCA2 | c.5243_5246dup (p.Tyr1749Ter) c.4874_4877dup (p.Tyr1626Ter) n.5243_5246dup | dbSNP |
13 | g.32339599del | CA658761176 | BRCA2 | c.5244del (p.Tyr1749IlefsTer28) c.4875del (p.Tyr1626IlefsTer28) n.5244del | |
13 | g.32339599C>A | CA021843 | BRCA2 | c.5244C>A (p.Ser1748Arg) c.4875C>A (p.Ser1625Arg) n.5244C>A | ClinVar dbSNP |
13 | g.32339599C= | CA2082820913 | BRCA2 | c.5244C= (p.Ser1748=) c.4875C= (p.Ser1625=) n.5244C= | |
13 | g.32339599C>G | CA387784690 | BRCA2 | c.5244C>G (p.Ser1748Arg) c.4875C>G (p.Ser1625Arg) n.5244C>G | dbSNP |
13 | g.32339599C>T | CA10579648 | BRCA2 | c.5244C>T (p.Ser1748=) c.4875C>T (p.Ser1625=) n.5244C>T | ClinVar dbSNP |
13 | g.32339600T>A | CA387784691 | BRCA2 | c.5245T>A (p.Tyr1749Asn) c.4876T>A (p.Tyr1626Asn) n.5245T>A | dbSNP |
13 | g.32339600T>C | CA10579649 | BRCA2 | c.5245T>C (p.Tyr1749His) c.4876T>C (p.Tyr1626His) n.5245T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339600T>G | CA387784692 | BRCA2 | c.5245T>G (p.Tyr1749Asp) c.4876T>G (p.Tyr1626Asp) n.5245T>G | ClinVar dbSNP |
13 | g.32339600T= | CA2082820927 | BRCA2 | c.5245T= (p.Tyr1749=) c.4876T= (p.Tyr1626=) n.5245T= | |
13 | g.32339601A= | CA2082820939 | BRCA2 | c.5246A= (p.Tyr1749=) c.4877A= (p.Tyr1626=) n.5246A= | |
13 | g.32339601A>C | CA387784693 | BRCA2 | c.5246A>C (p.Tyr1749Ser) c.4877A>C (p.Tyr1626Ser) n.5246A>C | dbSNP gnomAD v4 |
13 | g.32339601A>G | CA6940859 | BRCA2 | c.5246A>G (p.Tyr1749Cys) c.4877A>G (p.Tyr1626Cys) n.5246A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339601A>T | CA387784694 | BRCA2 | c.5246A>T (p.Tyr1749Phe) c.4877A>T (p.Tyr1626Phe) n.5246A>T | dbSNP |
13 | g.32339602T>A | CA387784695 | BRCA2 | c.5247T>A (p.Tyr1749Ter) c.4878T>A (p.Tyr1626Ter) n.5247T>A | ClinVar dbSNP |
13 | g.32339602T>C | CA483438458 | BRCA2 | c.5247T>C (p.Tyr1749=) c.4878T>C (p.Tyr1626=) n.5247T>C | ClinVar dbSNP |
13 | g.32339602T>G | CA387784696 | BRCA2 | c.5247T>G (p.Tyr1749Ter) c.4878T>G (p.Tyr1626Ter) n.5247T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339602T= | CA2082820949 | BRCA2 | c.5247T= (p.Tyr1749=) c.4878T= (p.Tyr1626=) n.5247T= | |
13 | g.32339603T>A | CA387784697 | BRCA2 | c.5248T>A (p.Ser1750Thr) c.4879T>A (p.Ser1627Thr) n.5248T>A | dbSNP |
13 | g.32339603T>C | CA387784698 | BRCA2 | c.5248T>C (p.Ser1750Pro) c.4879T>C (p.Ser1627Pro) n.5248T>C | |
13 | g.32339603T>G | CA387784699 | BRCA2 | c.5248T>G (p.Ser1750Ala) c.4879T>G (p.Ser1627Ala) n.5248T>G | |
13 | g.32339603_32339604delinsTC | CA2082820960 | BRCA2 | c.5248_5249delinsTC (p.Ser1750=) c.4879_4880delinsTC (p.Ser1627=) n.5248_5249delinsTC | |
13 | g.32339604C>A | CA387784700 | BRCA2 | c.5249C>A (p.Ser1750Tyr) c.4880C>A (p.Ser1627Tyr) n.5249C>A | dbSNP |
13 | g.32339604C= | CA2082820976 | BRCA2 | c.5249C= (p.Ser1750=) c.4880C= (p.Ser1627=) n.5249C= | |
13 | g.32339604C>G | CA387784701 | BRCA2 | c.5249C>G (p.Ser1750Cys) c.4880C>G (p.Ser1627Cys) n.5249C>G | dbSNP gnomAD v4 |
13 | g.32339604C>T | CA021849 | BRCA2 | c.5249C>T (p.Ser1750Phe) c.4880C>T (p.Ser1627Phe) n.5249C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
13 | g.32339605del | CA021855 | BRCA2 | c.5250del (p.Tyr1751ThrfsTer26) c.4881del (p.Tyr1628ThrfsTer26) n.5250del | ClinVar dbSNP |
13 | g.32339605C>A | CA483438464 | BRCA2 | c.5250C>A (p.Ser1750=) c.4881C>A (p.Ser1627=) n.5250C>A | dbSNP |
13 | g.32339605C>G | CA483438465 | BRCA2 | c.5250C>G (p.Ser1750=) c.4881C>G (p.Ser1627=) n.5250C>G | dbSNP |
13 | g.32339605C>T | CA483438466 | BRCA2 | c.5250C>T (p.Ser1750=) c.4881C>T (p.Ser1627=) n.5250C>T | dbSNP |
13 | g.32339606T>A | CA387784704 | BRCA2 | c.5251T>A (p.Tyr1751Asn) c.4882T>A (p.Tyr1628Asn) n.5251T>A | dbSNP |
13 | g.32339606T>C | CA387784702 | BRCA2 | c.5251T>C (p.Tyr1751His) c.4882T>C (p.Tyr1628His) n.5251T>C | dbSNP |
13 | g.32339606T>G | CA387784703 | BRCA2 | c.5251T>G (p.Tyr1751Asp) c.4882T>G (p.Tyr1628Asp) n.5251T>G | |
13 | g.32339607A= | CA2082820992 | BRCA2 | c.5252A= (p.Tyr1751=) c.4883A= (p.Tyr1628=) n.5252A= | |
13 | g.32339607A>C | CA387784705 | BRCA2 | c.5252A>C (p.Tyr1751Ser) c.4883A>C (p.Tyr1628Ser) n.5252A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339607A>G | CA387784706 | BRCA2 | c.5252A>G (p.Tyr1751Cys) c.4883A>G (p.Tyr1628Cys) n.5252A>G | ClinVar |
13 | g.32339607A>T | CA387784707 | BRCA2 | c.5252A>T (p.Tyr1751Phe) c.4883A>T (p.Tyr1628Phe) n.5252A>T | |
13 | g.32339607_32339608delinsAC | CA2082820991 | BRCA2 | c.5252_5253delinsAC (p.Tyr1751=) c.4883_4884delinsAC (p.Tyr1628=) n.5252_5253delinsAC | |
13 | g.32339608C>A | CA387784708 | BRCA2 | c.5253C>A (p.Tyr1751Ter) c.4884C>A (p.Tyr1628Ter) n.5253C>A | ClinVar dbSNP |
13 | g.32339608C= | CA2082821003 | BRCA2 | c.5253C= (p.Tyr1751=) c.4884C= (p.Tyr1628=) n.5253C= | |
13 | g.32339608C>G | CA387784709 | BRCA2 | c.5253C>G (p.Tyr1751Ter) c.4884C>G (p.Tyr1628Ter) n.5253C>G | dbSNP |
13 | g.32339608C>T | CA483438468 | BRCA2 | c.5253C>T (p.Tyr1751=) c.4884C>T (p.Tyr1628=) n.5253C>T | ClinVar dbSNP |
13 | g.32339609del | CA021869 | BRCA2 | c.5254del (p.His1752IlefsTer25) c.4885del (p.His1629IlefsTer25) n.5254del | ClinVar dbSNP |
13 | g.32339609C>A | CA387784710 | BRCA2 | c.5254C>A (p.His1752Asn) c.4885C>A (p.His1629Asn) n.5254C>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32339609C= | CA2082821014 | BRCA2 | c.5254C= (p.His1752=) c.4885C= (p.His1629=) n.5254C= | |
13 | g.32339609C>G | CA387784711 | BRCA2 | c.5254C>G (p.His1752Asp) c.4885C>G (p.His1629Asp) n.5254C>G | dbSNP |
13 | g.32339609C>T | CA021863 | BRCA2 | c.5254C>T (p.His1752Tyr) c.4885C>T (p.His1629Tyr) n.5254C>T | ClinVar dbSNP |
13 | g.32339610A= | CA2082821019 | BRCA2 | c.5255A= (p.His1752=) c.4886A= (p.His1629=) n.5255A= |