Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
13 | g.32336269_32337451del | CA2581463478 | BRCA2 | c.1914_3096del (p.Leu639IlefsTer10) c.1545_2727del (p.Leu516IlefsTer10) n.1914_3096del | |
13 | g.32336972dup | CA015849 | BRCA2 | c.2617dup (p.Ile873AsnfsTer8) c.2248dup (p.Ile750AsnfsTer8) n.2617dup | ClinVar dbSNP |
13 | g.32336968_32336972dup | CA2622601021 | BRCA2 | c.2613_2617dup (p.Ile873LysfsTer3) c.2244_2248dup (p.Ile750LysfsTer3) n.2613_2617dup | gnomAD v4 |
13 | g.32336972del | CA2580087290 | BRCA2 | c.2617del (p.Ile873Ter) c.2248del (p.Ile750Ter) n.2617del | ClinVar dbSNP |
13 | g.32336971_32336973delinsAAT | CA2082809998 | BRCA2 | c.2616_2618delinsAAT (p.Lys872=) c.2247_2249delinsAAT (p.Lys749=) n.2616_2618delinsAAT | |
13 | g.32336972A= | CA2082810008 | BRCA2 | c.2617A= (p.Ile873=) c.2248A= (p.Ile750=) n.2617A= | |
13 | g.32336972A>C | CA387773180 | BRCA2 | c.2617A>C (p.Ile873Leu) c.2248A>C (p.Ile750Leu) n.2617A>C | ClinVar dbSNP |
13 | g.32336972A>G | CA387773182 | BRCA2 | c.2617A>G (p.Ile873Val) c.2248A>G (p.Ile750Val) n.2617A>G | ClinVar |
13 | g.32336972A>T | CA387773184 | BRCA2 | c.2617A>T (p.Ile873Leu) c.2248A>T (p.Ile750Leu) n.2617A>T | dbSNP |
13 | g.32336973_32336974del | CA015858 | BRCA2 | c.2618_2619del (p.Ile873AsnfsTer7) c.2249_2250del (p.Ile750AsnfsTer7) n.2618_2619del | ClinVar dbSNP |
13 | g.32336973T>A | CA387773186 | BRCA2 | c.2618T>A (p.Ile873Lys) c.2249T>A (p.Ile750Lys) n.2618T>A | |
13 | g.32336973T>C | CA387773188 | BRCA2 | c.2618T>C (p.Ile873Thr) c.2249T>C (p.Ile750Thr) n.2618T>C | |
13 | g.32336973T>G | CA387773189 | BRCA2 | c.2618T>G (p.Ile873Arg) c.2249T>G (p.Ile750Arg) n.2618T>G | |
13 | g.32336973dup | CA015865 | BRCA2 | c.2618dup (p.Thr874AsnfsTer7) c.2249dup (p.Thr751AsnfsTer7) n.2618dup | ClinVar dbSNP gnomAD v4 |
13 | g.32336974A= | CA2082810021 | BRCA2 | c.2619A= (p.Ile873=) c.2250A= (p.Ile750=) n.2619A= | |
13 | g.32336974A>C | CA483436943 | BRCA2 | c.2619A>C (p.Ile873=) c.2250A>C (p.Ile750=) n.2619A>C | ClinVar dbSNP |
13 | g.32336974A>G | CA387773191 | BRCA2 | c.2619A>G (p.Ile873Met) c.2250A>G (p.Ile750Met) n.2619A>G | |
13 | g.32336974A>T | CA483436946 | BRCA2 | c.2619A>T (p.Ile873=) c.2250A>T (p.Ile750=) n.2619A>T | dbSNP |
13 | g.32336975A= | CA2082810027 | BRCA2 | c.2620A= (p.Thr874=) c.2251A= (p.Thr751=) n.2620A= | |
13 | g.32336975A>C | CA387773192 | BRCA2 | c.2620A>C (p.Thr874Pro) c.2251A>C (p.Thr751Pro) n.2620A>C | dbSNP |
13 | g.32336975A>G | CA387773193 | BRCA2 | c.2620A>G (p.Thr874Ala) c.2251A>G (p.Thr751Ala) n.2620A>G | ClinVar dbSNP |
13 | g.32336975A>T | CA387773195 | BRCA2 | c.2620A>T (p.Thr874Ser) c.2251A>T (p.Thr751Ser) n.2620A>T | dbSNP |
13 | g.32336976C>A | CA387773198 | BRCA2 | c.2621C>A (p.Thr874Asn) c.2252C>A (p.Thr751Asn) n.2621C>A | dbSNP |
13 | g.32336976C= | CA2082810035 | BRCA2 | c.2621C= (p.Thr874=) c.2252C= (p.Thr751=) n.2621C= | |
13 | g.32336976C>G | CA387773199 | BRCA2 | c.2621C>G (p.Thr874Ser) c.2252C>G (p.Thr751Ser) n.2621C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32336976C>T | CA387773197 | BRCA2 | c.2621C>T (p.Thr874Ile) c.2252C>T (p.Thr751Ile) n.2621C>T | dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32336976_32336978delinsCTG | CA2082810033 | BRCA2 | c.2621_2623delinsCTG (p.Thr874=) c.2252_2254delinsCTG (p.Thr751=) n.2621_2623delinsCTG | |
13 | g.32336976_32336977insG | CA658823631 | BRCA2 | c.2621_2622insG (p.Val875CysfsTer6) c.2252_2253insG (p.Val752CysfsTer6) n.2621_2622insG | ClinVar dbSNP |
13 | g.32336977del | CA2580087291 | BRCA2 | c.2622del (p.Val875SerfsTer20) c.2253del (p.Val752SerfsTer20) n.2622del | ClinVar |
13 | g.32336977T>A | CA483436949 | BRCA2 | c.2622T>A (p.Thr874=) c.2253T>A (p.Thr751=) n.2622T>A | dbSNP |
13 | g.32336977T>C | CA483436950 | BRCA2 | c.2622T>C (p.Thr874=) c.2253T>C (p.Thr751=) n.2622T>C | ClinVar dbSNP |
13 | g.32336977T>G | CA483436951 | BRCA2 | c.2622T>G (p.Thr874=) c.2253T>G (p.Thr751=) n.2622T>G | |
13 | g.32336977T= | CA2082810055 | BRCA2 | c.2622T= (p.Thr874=) c.2253T= (p.Thr751=) n.2622T= | |
13 | g.32336977dup | CA10586503 | BRCA2 | c.2622dup (p.Val875CysfsTer6) c.2253dup (p.Val752CysfsTer6) n.2622dup | ClinVar dbSNP |
13 | g.32336978_32336979del | CA10579542 | BRCA2 | c.2623_2624del (p.Val875GlnfsTer5) c.2254_2255del (p.Val752GlnfsTer5) n.2623_2624del | ClinVar dbSNP |
13 | g.32336978G>A | CA015888 | BRCA2 | c.2623G>A (p.Val875Ile) c.2254G>A (p.Val752Ile) n.2623G>A | ClinVar dbSNP |
13 | g.32336978G>C | CA387773203 | BRCA2 | c.2623G>C (p.Val875Leu) c.2254G>C (p.Val752Leu) n.2623G>C | ClinVar dbSNP |
13 | g.32336978G= | CA2082810067 | BRCA2 | c.2623G= (p.Val875=) c.2254G= (p.Val752=) n.2623G= | |
13 | g.32336978G>T | CA387773204 | BRCA2 | c.2623G>T (p.Val875Phe) c.2254G>T (p.Val752Phe) n.2623G>T | |
13 | g.32336979T>A | CA387773206 | BRCA2 | c.2624T>A (p.Val875Asp) c.2255T>A (p.Val752Asp) n.2624T>A | dbSNP |
13 | g.32336979T>C | CA387773207 | BRCA2 | c.2624T>C (p.Val875Ala) c.2255T>C (p.Val752Ala) n.2624T>C | ClinVar dbSNP |
13 | g.32336979T>G | CA387773210 | BRCA2 | c.2624T>G (p.Val875Gly) c.2255T>G (p.Val752Gly) n.2624T>G | |
13 | g.32336980C>A | CA483436961 | BRCA2 | c.2625C>A (p.Val875=) c.2256C>A (p.Val752=) n.2625C>A | dbSNP |
13 | g.32336980C>G | CA483436959 | BRCA2 | c.2625C>G (p.Val875=) c.2256C>G (p.Val752=) n.2625C>G | dbSNP |
13 | g.32336980C>T | CA483436960 | BRCA2 | c.2625C>T (p.Val875=) c.2256C>T (p.Val752=) n.2625C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32336981A>C | CA387773211 | BRCA2 | c.2626A>C (p.Asn876His) c.2257A>C (p.Asn753His) n.2626A>C | |
13 | g.32336981A>G | CA387773213 | BRCA2 | c.2626A>G (p.Asn876Asp) c.2257A>G (p.Asn753Asp) n.2626A>G | dbSNP |
13 | g.32336981A>T | CA387773214 | BRCA2 | c.2626A>T (p.Asn876Tyr) c.2257A>T (p.Asn753Tyr) n.2626A>T | |
13 | g.32336982del | CA658761171 | BRCA2 | c.2627del (p.Asn876IlefsTer19) c.2258del (p.Asn753IlefsTer19) n.2627del |