| 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.32330917_32331031del | CA2499222059 | BRCA2 | c.682-2_793+1del c.313-2_424+1del c.*461-2_*572+1del n.880-2_991+1del n.682-2_793+1del | ClinVar dbSNP |
| 13 | g.32330941A= | CA2082759013 | BRCA2 | c.704A= (p.Asn235=) c.335A= (p.Asn112=) c.*483A= (n.*483A=) n.902A= n.704A= | |
| 13 | g.32330941A>C | CA387759921 | BRCA2 | c.704A>C (p.Asn235Thr) c.335A>C (p.Asn112Thr) c.*483A>C (n.*483A>C) n.902A>C n.704A>C | |
| 13 | g.32330941A>G | CA024792 | BRCA2 | c.704A>G (p.Asn235Ser) c.335A>G (p.Asn112Ser) c.*483A>G (n.*483A>G) n.902A>G n.704A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32330941A>T | CA387759923 | BRCA2 | c.704A>T (p.Asn235Ile) c.335A>T (p.Asn112Ile) c.*483A>T (n.*483A>T) n.902A>T n.704A>T | dbSNP |
| 13 | g.32330941_32330942delinsAT | CA2082759018 | BRCA2 | c.704_705delinsAT (p.Asn235=) c.335_336delinsAT (p.Asn112=) c.*483_*484delinsAT (n.*483_*484delinsAT) n.902_903delinsAT n.704_705delinsAT | |
| 13 | g.32330942del | CA658798109 | BRCA2 | c.705del (p.His236MetfsTer5) c.336del (p.His113MetfsTer5) c.*484del (n.*484del) n.903del n.705del | ClinVar dbSNP |
| 13 | g.32330942T>A | CA387759926 | BRCA2 | c.705T>A (p.Asn235Lys) c.336T>A (p.Asn112Lys) c.*484T>A (n.*484T>A) n.903T>A n.705T>A | dbSNP |
| 13 | g.32330942T>C | CA483274408 | BRCA2 | c.705T>C (p.Asn235=) c.336T>C (p.Asn112=) c.*484T>C (n.*484T>C) n.903T>C n.705T>C | ClinVar dbSNP |
| 13 | g.32330942T>G | CA024822 | BRCA2 | c.705T>G (p.Asn235Lys) c.336T>G (p.Asn112Lys) c.*484T>G (n.*484T>G) n.903T>G n.705T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32330942T= | CA2082759026 | BRCA2 | c.705T= (p.Asn235=) c.336T= (p.Asn112=) c.*484T= (n.*484T=) n.903T= n.705T= | |
| 13 | g.32330943C>A | CA387759927 | BRCA2 | c.706C>A (p.His236Asn) c.337C>A (p.His113Asn) c.*485C>A (n.*485C>A) n.904C>A n.706C>A | dbSNP |
| 13 | g.32330943C= | CA2082759043 | BRCA2 | c.706C= (p.His236=) c.337C= (p.His113=) c.*485C= (n.*485C=) n.904C= n.706C= | |
| 13 | g.32330943C>G | CA387759928 | BRCA2 | c.706C>G (p.His236Asp) c.337C>G (p.His113Asp) c.*485C>G (n.*485C>G) n.904C>G n.706C>G | dbSNP gnomAD v4 |
| 13 | g.32330943C>T | CA387759930 | BRCA2 | c.706C>T (p.His236Tyr) c.337C>T (p.His113Tyr) c.*485C>T (n.*485C>T) n.904C>T n.706C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32330943_32330944delinsCA | CA2082759046 | BRCA2 | c.706_707delinsCA (p.His236=) c.337_338delinsCA (p.His113=) c.*485_*486delinsCA (n.*485_*486delinsCA) n.904_905delinsCA n.706_707delinsCA | |
| 13 | g.32330943_32330946delinsCATG | CA2082759041 | BRCA2 | c.706_709delinsCATG (p.His236=) c.337_340delinsCATG (p.His113=) c.*485_*488delinsCATG (n.*485_*488delinsCATG) n.904_907delinsCATG n.706_709delinsCATG | |
| 13 | g.32330944del | CA1139663098 | BRCA2 | c.707del (p.His236LeufsTer5) c.338del (p.His113LeufsTer5) c.*486del (n.*486del) n.905del n.707del | ClinVar dbSNP |
| 13 | g.32330944A= | CA2082759065 | BRCA2 | c.707A= (p.His236=) c.338A= (p.His113=) c.*486A= (n.*486A=) n.905A= n.707A= | |
| 13 | g.32330944A>C | CA387759932 | BRCA2 | c.707A>C (p.His236Pro) c.338A>C (p.His113Pro) c.*486A>C (n.*486A>C) n.905A>C n.707A>C | |
| 13 | g.32330944A>G | CA024845 | BRCA2 | c.707A>G (p.His236Arg) c.338A>G (p.His113Arg) c.*486A>G (n.*486A>G) n.905A>G n.707A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32330944A>T | CA387759933 | BRCA2 | c.707A>T (p.His236Leu) c.338A>T (p.His113Leu) c.*486A>T (n.*486A>T) n.905A>T n.707A>T | ClinVar dbSNP |
| 13 | g.32330948_32330950del | CA10579469 | BRCA2 | c.711_713del (p.Asp237del) c.342_344del (p.Asp114del) c.*490_*492del (n.*490_*492del) n.909_911del n.711_713del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32330945T>A | CA387759936 | BRCA2 | c.708T>A (p.His236Gln) c.339T>A (p.His113Gln) c.*487T>A (n.*487T>A) n.906T>A n.708T>A | |
| 13 | g.32330945T>C | CA024855 | BRCA2 | c.708T>C (p.His236=) c.339T>C (p.His113=) c.*487T>C (n.*487T>C) n.906T>C n.708T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32330945T>G | CA387759937 | BRCA2 | c.708T>G (p.His236Gln) c.339T>G (p.His113Gln) c.*487T>G (n.*487T>G) n.906T>G n.708T>G | ClinVar |
| 13 | g.32330945T= | CA2082759074 | BRCA2 | c.708T= (p.His236=) c.339T= (p.His113=) c.*487T= (n.*487T=) n.906T= n.708T= | |
| 13 | g.32330946G>A | CA024869 | BRCA2 | c.709G>A (p.Asp237Asn) c.340G>A (p.Asp114Asn) c.*488G>A (n.*488G>A) n.907G>A n.709G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32330946G>C | CA387759940 | BRCA2 | c.709G>C (p.Asp237His) c.340G>C (p.Asp114His) c.*488G>C (n.*488G>C) n.907G>C n.709G>C | dbSNP |
| 13 | g.32330946G= | CA2082759083 | BRCA2 | c.709G= (p.Asp237=) c.340G= (p.Asp114=) c.*488G= (n.*488G=) n.907G= n.709G= | |
| 13 | g.32330946G>T | CA387759941 | BRCA2 | c.709G>T (p.Asp237Tyr) c.340G>T (p.Asp114Tyr) c.*488G>T (n.*488G>T) n.907G>T n.709G>T | ClinVar dbSNP |
| 13 | g.32330947A= | CA2082759094 | BRCA2 | c.710A= (p.Asp237=) c.341A= (p.Asp114=) c.*489A= (n.*489A=) n.908A= n.710A= | |
| 13 | g.32330947A>C | CA387759943 | BRCA2 | c.710A>C (p.Asp237Ala) c.341A>C (p.Asp114Ala) c.*489A>C (n.*489A>C) n.908A>C n.710A>C | |
| 13 | g.32330947A>G | CA024877 | BRCA2 | c.710A>G (p.Asp237Gly) c.341A>G (p.Asp114Gly) c.*489A>G (n.*489A>G) n.908A>G n.710A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32330947A>T | CA387759945 | BRCA2 | c.710A>T (p.Asp237Val) c.341A>T (p.Asp114Val) c.*489A>T (n.*489A>T) n.908A>T n.710A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32330948T>A | CA387759947 | BRCA2 | c.711T>A (p.Asp237Glu) c.342T>A (p.Asp114Glu) c.*490T>A (n.*490T>A) n.909T>A n.711T>A | dbSNP |
| 13 | g.32330948T>C | CA483274412 | BRCA2 | c.711T>C (p.Asp237=) c.342T>C (p.Asp114=) c.*490T>C (n.*490T>C) n.909T>C n.711T>C | dbSNP gnomAD v4 |
| 13 | g.32330948T>G | CA387759948 | BRCA2 | c.711T>G (p.Asp237Glu) c.342T>G (p.Asp114Glu) c.*490T>G (n.*490T>G) n.909T>G n.711T>G | |
| 13 | g.32330948T= | CA2082759101 | BRCA2 | c.711T= (p.Asp237=) c.342T= (p.Asp114=) c.*490T= (n.*490T=) n.909T= n.711T= | |
| 13 | g.32330949G>A | CA387759950 | BRCA2 | c.712G>A (p.Glu238Lys) c.343G>A (p.Glu115Lys) c.*491G>A (n.*491G>A) n.910G>A n.712G>A | dbSNP |
| 13 | g.32330949G>C | CA6940437 | BRCA2 | c.712G>C (p.Glu238Gln) c.343G>C (p.Glu115Gln) c.*491G>C (n.*491G>C) n.910G>C n.712G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32330949G= | CA2082759113 | BRCA2 | c.712G= (p.Glu238=) c.343G= (p.Glu115=) c.*491G= (n.*491G=) n.910G= n.712G= | |
| 13 | g.32330949G>T | CA024893 | BRCA2 | c.712G>T (p.Glu238Ter) c.343G>T (p.Glu115Ter) c.*491G>T (n.*491G>T) n.910G>T n.712G>T | ClinVar dbSNP |
| 13 | g.32330949dup | CA915946948 | BRCA2 | c.712dup (p.Glu238GlyfsTer7) c.343dup (p.Glu115GlyfsTer7) c.*491dup (n.*491dup) n.910dup n.712dup | ClinVar dbSNP |
| 13 | g.32330949_32330950delinsGA | CA2082759107 | BRCA2 | c.712_713delinsGA (p.Glu238=) c.343_344delinsGA (p.Glu115=) c.*491_*492delinsGA (n.*491_*492delinsGA) n.910_911delinsGA n.712_713delinsGA | |
| 13 | g.32330950A= | CA2082759125 | BRCA2 | c.713A= (p.Glu238=) c.344A= (p.Glu115=) c.*492A= (n.*492A=) n.911A= n.713A= | |
| 13 | g.32330950A>C | CA387759957 | BRCA2 | c.713A>C (p.Glu238Ala) c.344A>C (p.Glu115Ala) c.*492A>C (n.*492A>C) n.911A>C n.713A>C | gnomAD v4 |
| 13 | g.32330950A>G | CA387759955 | BRCA2 | c.713A>G (p.Glu238Gly) c.344A>G (p.Glu115Gly) c.*492A>G (n.*492A>G) n.911A>G n.713A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32330950A>T | CA387759953 | BRCA2 | c.713A>T (p.Glu238Val) c.344A>T (p.Glu115Val) c.*492A>T (n.*492A>T) n.911A>T n.713A>T | ClinVar dbSNP |