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.32339620G>A | CA021875 | BRCA2 | c.5265G>A (p.Glu1755=) c.4896G>A (p.Glu1632=) n.5265G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339620G>C | CA387784733 | BRCA2 | c.5265G>C (p.Glu1755Asp) c.4896G>C (p.Glu1632Asp) n.5265G>C | dbSNP |
13 | g.32339620G= | CA2082821056 | BRCA2 | c.5265G= (p.Glu1755=) c.4896G= (p.Glu1632=) n.5265G= | |
13 | g.32339620G>T | CA387784734 | BRCA2 | c.5265G>T (p.Glu1755Asp) c.4896G>T (p.Glu1632Asp) n.5265G>T | dbSNP |
13 | g.32339621dup | CA2580087328 | BRCA2 | c.5266dup (p.Val1756GlyfsTer3) c.4897dup (p.Val1633GlyfsTer3) n.5266dup | ClinVar |
13 | g.32339620_32339624delinsGGTAT | CA2082821053 | BRCA2 | c.5265_5269delinsGGTAT (p.Glu1755=) c.4896_4900delinsGGTAT (p.Glu1632=) n.5265_5269delinsGGTAT | |
13 | g.32339621G>A | CA387784735 | BRCA2 | c.5266G>A (p.Val1756Ile) c.4897G>A (p.Val1633Ile) n.5266G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339621G>C | CA10579650 | BRCA2 | c.5266G>C (p.Val1756Leu) c.4897G>C (p.Val1633Leu) n.5266G>C | ClinVar dbSNP |
13 | g.32339621G= | CA2082821073 | BRCA2 | c.5266G= (p.Val1756=) c.4897G= (p.Val1633=) n.5266G= | |
13 | g.32339621G>T | CA387784736 | BRCA2 | c.5266G>T (p.Val1756Leu) c.4897G>T (p.Val1633Leu) n.5266G>T | dbSNP |
13 | g.32339621_32339624del | CA021880 | BRCA2 | c.5266_5269del (p.Val1756IlefsTer20) c.4897_4900del (p.Val1633IlefsTer20) n.5266_5269del | ClinVar dbSNP |
13 | g.32339621_32339638delinsGTATATAATGATTCAGGA | CA2082821075 | BRCA2 | c.5266_5283delinsGTATATAATGATTCAGGA (p.Val1756=) c.4897_4914delinsGTATATAATGATTCAGGA (p.Val1633=) n.5266_5283delinsGTATATAATGATTCAGGA | |
13 | g.32339622T>A | CA6940863 | BRCA2 | c.5267T>A (p.Val1756Glu) c.4898T>A (p.Val1633Glu) n.5267T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339622T>C | CA387784737 | BRCA2 | c.5267T>C (p.Val1756Ala) c.4898T>C (p.Val1633Ala) n.5267T>C | dbSNP |
13 | g.32339622T>G | CA387784738 | BRCA2 | c.5267T>G (p.Val1756Gly) c.4898T>G (p.Val1633Gly) n.5267T>G | dbSNP |
13 | g.32339622T= | CA2082821094 | BRCA2 | c.5267T= (p.Val1756=) c.4898T= (p.Val1633=) n.5267T= | |
13 | g.32339622_32339637delinsTATATAATGATTCAGG | CA2082821096 | BRCA2 | c.5267_5282delinsTATATAATGATTCAGG (p.Val1756=) c.4898_4913delinsTATATAATGATTCAGG (p.Val1633=) n.5267_5282delinsTATATAATGATTCAGG | |
13 | g.32339625_32339641del | CA021904 | BRCA2 | c.5270_5286del (p.Tyr1757SerfsTer5) c.4901_4917del (p.Tyr1634SerfsTer5) n.5270_5286del | ClinVar dbSNP |
13 | g.32339623A= | CA2082821103 | BRCA2 | c.5268A= (p.Val1756=) c.4899A= (p.Val1633=) n.5268A= | |
13 | g.32339623A>C | CA483438486 | BRCA2 | c.5268A>C (p.Val1756=) c.4899A>C (p.Val1633=) n.5268A>C | |
13 | g.32339623A>G | CA021893 | BRCA2 | c.5268A>G (p.Val1756=) c.4899A>G (p.Val1633=) n.5268A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339623A>T | CA483438487 | BRCA2 | c.5268A>T (p.Val1756=) c.4899A>T (p.Val1633=) n.5268A>T | dbSNP |
13 | g.32339627_32339641del | CA6940862 | BRCA2 | c.5272_5286del (p.Asn1758_Tyr1762del) c.4903_4917del (p.Asn1635_Tyr1639del) n.5272_5286del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339624T>A | CA387784739 | BRCA2 | c.5269T>A (p.Tyr1757Asn) c.4900T>A (p.Tyr1634Asn) n.5269T>A | dbSNP |
13 | g.32339624T>C | CA387784740 | BRCA2 | c.5269T>C (p.Tyr1757His) c.4900T>C (p.Tyr1634His) n.5269T>C | ClinVar dbSNP |
13 | g.32339624T>G | CA387784741 | BRCA2 | c.5269T>G (p.Tyr1757Asp) c.4900T>G (p.Tyr1634Asp) n.5269T>G | dbSNP |
13 | g.32339624T= | CA2082821121 | BRCA2 | c.5269T= (p.Tyr1757=) c.4900T= (p.Tyr1634=) n.5269T= | |
13 | g.32339624_32339627delinsTATA | CA2082821116 | BRCA2 | c.5269_5272delinsTATA (p.Tyr1757=) c.4900_4903delinsTATA (p.Tyr1634=) n.5269_5272delinsTATA | |
13 | g.32339624_32339628delinsTATAA | CA2082821118 | BRCA2 | c.5269_5273delinsTATAA (p.Tyr1757=) c.4900_4904delinsTATAA (p.Tyr1634=) n.5269_5273delinsTATAA | |
13 | g.32339625A= | CA2082821132 | BRCA2 | c.5270A= (p.Tyr1757=) c.4901A= (p.Tyr1634=) n.5270A= | |
13 | g.32339625A>C | CA387784743 | BRCA2 | c.5270A>C (p.Tyr1757Ser) c.4901A>C (p.Tyr1634Ser) n.5270A>C | |
13 | g.32339625A>G | CA021909 | BRCA2 | c.5270A>G (p.Tyr1757Cys) c.4901A>G (p.Tyr1634Cys) n.5270A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339625A>T | CA387784742 | BRCA2 | c.5270A>T (p.Tyr1757Phe) c.4901A>T (p.Tyr1634Phe) n.5270A>T | dbSNP |
13 | g.32339625_32339628del | CA10589305 | BRCA2 | c.5270_5273del (p.Tyr1757LeufsTer19) c.4901_4904del (p.Tyr1634LeufsTer19) n.5270_5273del | ClinVar dbSNP |
13 | g.32339627_32339629del | CA021899 | BRCA2 | c.5272_5274del (p.Asn1758del) c.4903_4905del (p.Asn1635del) n.5272_5274del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339626T>A | CA387784744 | BRCA2 | c.5271T>A (p.Tyr1757Ter) c.4902T>A (p.Tyr1634Ter) n.5271T>A | ClinVar dbSNP |
13 | g.32339626T>C | CA483438490 | BRCA2 | c.5271T>C (p.Tyr1757=) c.4902T>C (p.Tyr1634=) n.5271T>C | ClinVar dbSNP |
13 | g.32339626T>G | CA387784745 | BRCA2 | c.5271T>G (p.Tyr1757Ter) c.4902T>G (p.Tyr1634Ter) n.5271T>G | |
13 | g.32339626T= | CA2082821151 | BRCA2 | c.5271T= (p.Tyr1757=) c.4902T= (p.Tyr1634=) n.5271T= | |
13 | g.32339627A= | CA2082821169 | BRCA2 | c.5272A= (p.Asn1758=) c.4903A= (p.Asn1635=) n.5272A= | |
13 | g.32339627A>C | CA387784746 | BRCA2 | c.5272A>C (p.Asn1758His) c.4903A>C (p.Asn1635His) n.5272A>C | |
13 | g.32339627A>G | CA021918 | BRCA2 | c.5272A>G (p.Asn1758Asp) c.4903A>G (p.Asn1635Asp) n.5272A>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.32339627A>T | CA387784747 | BRCA2 | c.5272A>T (p.Asn1758Tyr) c.4903A>T (p.Asn1635Tyr) n.5272A>T | dbSNP |
13 | g.32339628A= | CA2082821212 | BRCA2 | c.5273A= (p.Asn1758=) c.4904A= (p.Asn1635=) n.5273A= | |
13 | g.32339628A>C | CA387784750 | BRCA2 | c.5273A>C (p.Asn1758Thr) c.4904A>C (p.Asn1635Thr) n.5273A>C | |
13 | g.32339628A>G | CA387784748 | BRCA2 | c.5273A>G (p.Asn1758Ser) c.4904A>G (p.Asn1635Ser) n.5273A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339628A>T | CA387784749 | BRCA2 | c.5273A>T (p.Asn1758Ile) c.4904A>T (p.Asn1635Ile) n.5273A>T | |
13 | g.32339629T>A | CA387784751 | BRCA2 | c.5274T>A (p.Asn1758Lys) c.4905T>A (p.Asn1635Lys) n.5274T>A | dbSNP |