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.32340422_32340431del | CA10589350 | BRCA2 | c.6067_6076del (p.Asp2023GlnfsTer14) c.5698_5707del (p.Asp1900GlnfsTer14) n.6067_6076del | ClinVar dbSNP |
13 | g.32340429_32340430del | CA16614332 | BRCA2 | c.6074_6075del (p.Leu2025HisfsTer23) c.5705_5706del (p.Leu1902HisfsTer23) n.6074_6075del | ClinVar dbSNP |
13 | g.32340430C>A | CA483439138 | BRCA2 | c.6075C>A (p.Leu2025=) c.5706C>A (p.Leu1902=) n.6075C>A | dbSNP |
13 | g.32340430C= | CA2082809739 | BRCA2 | c.6075C= (p.Leu2025=) c.5706C= (p.Leu1902=) n.6075C= | |
13 | g.32340430C>G | CA483439140 | BRCA2 | c.6075C>G (p.Leu2025=) c.5706C>G (p.Leu1902=) n.6075C>G | dbSNP |
13 | g.32340430C>T | CA483439141 | BRCA2 | c.6075C>T (p.Leu2025=) c.5706C>T (p.Leu1902=) n.6075C>T | ClinVar dbSNP |
13 | g.32340430_32340431delinsCA | CA2082809738 | BRCA2 | c.6075_6076delinsCA (p.Leu2025=) c.5706_5707delinsCA (p.Leu1902=) n.6075_6076delinsCA | |
13 | g.32340430_32340447del | CA2504432832 | BRCA2 | c.6075_6092del (p.Thr2026_Thr2031del) c.5706_5723del (p.Thr1903_Thr1908del) n.6075_6092del | |
13 | g.32340431del | CA919242633 | BRCA2 | c.6076del (p.Thr2026GlnfsTer14) c.5707del (p.Thr1903GlnfsTer14) n.6076del | dbSNP |
13 | g.32340431A= | CA2082809748 | BRCA2 | c.6076A= (p.Thr2026=) c.5707A= (p.Thr1903=) n.6076A= | |
13 | g.32340431A>C | CA387787990 | BRCA2 | c.6076A>C (p.Thr2026Pro) c.5707A>C (p.Thr1903Pro) n.6076A>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340431A>G | CA023608 | BRCA2 | c.6076A>G (p.Thr2026Ala) c.5707A>G (p.Thr1903Ala) n.6076A>G | ClinVar dbSNP |
13 | g.32340431A>T | CA387787992 | BRCA2 | c.6076A>T (p.Thr2026Ser) c.5707A>T (p.Thr1903Ser) n.6076A>T | ClinVar dbSNP |
13 | g.32340432C>A | CA387787994 | BRCA2 | c.6077C>A (p.Thr2026Lys) c.5708C>A (p.Thr1903Lys) n.6077C>A | dbSNP |
13 | g.32340432C= | CA2082809770 | BRCA2 | c.6077C= (p.Thr2026=) c.5708C= (p.Thr1903=) n.6077C= | |
13 | g.32340432C>G | CA387787995 | BRCA2 | c.6077C>G (p.Thr2026Arg) c.5708C>G (p.Thr1903Arg) n.6077C>G | dbSNP |
13 | g.32340432C>T | CA387787997 | BRCA2 | c.6077C>T (p.Thr2026Ile) c.5708C>T (p.Thr1903Ile) n.6077C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32340432_32340434delinsCAA | CA2082809767 | BRCA2 | c.6077_6079delinsCAA (p.Thr2026=) c.5708_5710delinsCAA (p.Thr1903=) n.6077_6079delinsCAA | |
13 | g.32340432_32340437delinsCAAGAG | CA2082809769 | BRCA2 | c.6077_6082delinsCAAGAG (p.Thr2026=) c.5708_5713delinsCAAGAG (p.Thr1903=) n.6077_6082delinsCAAGAG | |
13 | g.32340433A= | CA2082809777 | BRCA2 | c.6078A= (p.Thr2026=) c.5709A= (p.Thr1903=) n.6078A= | |
13 | g.32340433A>C | CA483439146 | BRCA2 | c.6078A>C (p.Thr2026=) c.5709A>C (p.Thr1903=) n.6078A>C | gnomAD v4 |
13 | g.32340433A>G | CA023614 | BRCA2 | c.6078A>G (p.Thr2026=) c.5709A>G (p.Thr1903=) n.6078A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340433A>T | CA483439147 | BRCA2 | c.6078A>T (p.Thr2026=) c.5709A>T (p.Thr1903=) n.6078A>T | |
13 | g.32340433_32340434del | CA023610 | BRCA2 | c.6078_6079del (p.Glu2028ArgfsTer20) c.5709_5710del (p.Glu1905ArgfsTer20) n.6078_6079del | ClinVar dbSNP |
13 | g.32340434dup | CA023617 | BRCA2 | c.6079dup (p.Arg2027LysfsTer22) c.5710dup (p.Arg1904LysfsTer22) n.6079dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340434del | CA1139770424 | BRCA2 | c.6079del (p.Arg2027GlufsTer13) c.5710del (p.Arg1904GlufsTer13) n.6079del | |
13 | g.32340433_32340435delinsAAG | CA2082809778 | BRCA2 | c.6078_6080delinsAAG (p.Thr2026=) c.5709_5711delinsAAG (p.Thr1903=) n.6078_6080delinsAAG | |
13 | g.32340437_32340441del | CA023627 | BRCA2 | c.6082_6086del (p.Glu2028LysfsTer19) c.5713_5717del (p.Glu1905LysfsTer19) n.6082_6086del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340434A= | CA2082809798 | BRCA2 | c.6079A= (p.Arg2027=) c.5710A= (p.Arg1904=) n.6079A= | |
13 | g.32340434A>C | CA483439149 | BRCA2 | c.6079A>C (p.Arg2027=) c.5710A>C (p.Arg1904=) n.6079A>C | dbSNP |
13 | g.32340434A>G | CA023620 | BRCA2 | c.6079A>G (p.Arg2027Gly) c.5710A>G (p.Arg1904Gly) n.6079A>G | ClinVar dbSNP |
13 | g.32340434A>T | CA387788004 | BRCA2 | c.6079A>T (p.Arg2027Ter) c.5710A>T (p.Arg1904Ter) n.6079A>T | dbSNP |
13 | g.32340437_32340438del | CA10589352 | BRCA2 | c.6082_6083del (p.Glu2028ArgfsTer20) c.5713_5714del (p.Glu1905ArgfsTer20) n.6082_6083del | ClinVar dbSNP |
13 | g.32340435_32340438del | CA1139770802 | BRCA2 | c.6080_6083del (p.Arg2027LysfsTer12) c.5711_5714del (p.Arg1904LysfsTer12) n.6080_6083del | |
13 | g.32340435G>A | CA023625 | BRCA2 | c.6080G>A (p.Arg2027Lys) c.5711G>A (p.Arg1904Lys) n.6080G>A | ClinVar dbSNP |
13 | g.32340435G>C | CA387788008 | BRCA2 | c.6080G>C (p.Arg2027Thr) c.5711G>C (p.Arg1904Thr) n.6080G>C | dbSNP |
13 | g.32340435G= | CA2082809809 | BRCA2 | c.6080G= (p.Arg2027=) c.5711G= (p.Arg1904=) n.6080G= | |
13 | g.32340435G>T | CA387788010 | BRCA2 | c.6080G>T (p.Arg2027Ile) c.5711G>T (p.Arg1904Ile) n.6080G>T | |
13 | g.32340436A>C | CA387788013 | BRCA2 | c.6081A>C (p.Arg2027Ser) c.5712A>C (p.Arg1904Ser) n.6081A>C | |
13 | g.32340436A>G | CA483439150 | BRCA2 | c.6081A>G (p.Arg2027=) c.5712A>G (p.Arg1904=) n.6081A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340436A>T | CA387788015 | BRCA2 | c.6081A>T (p.Arg2027Ser) c.5712A>T (p.Arg1904Ser) n.6081A>T | dbSNP |
13 | g.32340436dup | CA10589351 | BRCA2 | c.6081dup (p.Glu2028ArgfsTer21) c.5712dup (p.Glu1905ArgfsTer21) n.6081dup | ClinVar dbSNP |
13 | g.32340437G>A | CA387788017 | BRCA2 | c.6082G>A (p.Glu2028Lys) c.5713G>A (p.Glu1905Lys) n.6082G>A | dbSNP |
13 | g.32340437G>C | CA387788018 | BRCA2 | c.6082G>C (p.Glu2028Gln) c.5713G>C (p.Glu1905Gln) n.6082G>C | dbSNP |
13 | g.32340437G= | CA2082809840 | BRCA2 | c.6082G= (p.Glu2028=) c.5713G= (p.Glu1905=) n.6082G= | |
13 | g.32340437G>T | CA023631 | BRCA2 | c.6082G>T (p.Glu2028Ter) c.5713G>T (p.Glu1905Ter) n.6082G>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32340437_32340438delinsAG | CA2580087786 | BRCA2 | c.6082_6083delinsAG (p.Glu2028Arg) c.5713_5714delinsAG (p.Glu1905Arg) n.6082_6083delinsAG | ClinVar |
13 | g.32340437_32340442delinsGAAGAA | CA2082809830 | BRCA2 | c.6082_6087delinsGAAGAA (p.Glu2028=) c.5713_5718delinsGAAGAA (p.Glu1905=) n.6082_6087delinsGAAGAA |