| 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.32340880_32340881delinsGA | CA2082815511 | BRCA2 | c.6525_6526delinsGA (p.Glu2175=) c.6156_6157delinsGA (p.Glu2052=) n.6525_6526delinsGA | |
| 13 | g.32340881A>C | CA387789634 | BRCA2 | c.6526A>C (p.Asn2176His) c.6157A>C (p.Asn2053His) n.6526A>C | |
| 13 | g.32340881A>G | CA387789636 | BRCA2 | c.6526A>G (p.Asn2176Asp) c.6157A>G (p.Asn2053Asp) n.6526A>G | gnomAD v4 |
| 13 | g.32340881A>T | CA387789637 | BRCA2 | c.6526A>T (p.Asn2176Tyr) c.6157A>T (p.Asn2053Tyr) n.6526A>T | |
| 13 | g.32340882del | CA024129 | BRCA2 | c.6527del (p.Asn2176ThrfsTer15) c.6158del (p.Asn2053ThrfsTer15) n.6527del | ClinVar dbSNP |
| 13 | g.32340882A= | CA2082815525 | BRCA2 | c.6527A= (p.Asn2176=) c.6158A= (p.Asn2053=) n.6527A= | |
| 13 | g.32340882A>C | CA387789640 | BRCA2 | c.6527A>C (p.Asn2176Thr) c.6158A>C (p.Asn2053Thr) n.6527A>C | |
| 13 | g.32340882A>G | CA387789641 | BRCA2 | c.6527A>G (p.Asn2176Ser) c.6158A>G (p.Asn2053Ser) n.6527A>G | |
| 13 | g.32340882A>T | CA387789643 | BRCA2 | c.6527A>T (p.Asn2176Ile) c.6158A>T (p.Asn2053Ile) n.6527A>T | dbSNP |
| 13 | g.32340882_32340886delinsACATT | CA2082815523 | BRCA2 | c.6527_6531delinsACATT (p.Asn2176=) c.6158_6162delinsACATT (p.Asn2053=) n.6527_6531delinsACATT | |
| 13 | g.32340883C>A | CA387789647 | BRCA2 | c.6528C>A (p.Asn2176Lys) c.6159C>A (p.Asn2053Lys) n.6528C>A | dbSNP |
| 13 | g.32340883C= | CA2082815538 | BRCA2 | c.6528C= (p.Asn2176=) c.6159C= (p.Asn2053=) n.6528C= | |
| 13 | g.32340883C>G | CA387789648 | BRCA2 | c.6528C>G (p.Asn2176Lys) c.6159C>G (p.Asn2053Lys) n.6528C>G | dbSNP |
| 13 | g.32340883C>T | CA024132 | BRCA2 | c.6528C>T (p.Asn2176=) c.6159C>T (p.Asn2053=) n.6528C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340886_32340889del | CA024136 | BRCA2 | c.6531_6534del (p.Ile2177MetfsTer13) c.6162_6165del (p.Ile2054MetfsTer13) n.6531_6534del | ClinVar dbSNP |
| 13 | g.32340883_32340890dup | CA10589386 | BRCA2 | c.6528_6535dup (p.Val2179AlafsTer15) c.6159_6166dup (p.Val2056AlafsTer15) n.6528_6535dup | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340884A= | CA2082815549 | BRCA2 | c.6529A= (p.Ile2177=) c.6160A= (p.Ile2054=) n.6529A= | |
| 13 | g.32340884A>C | CA387789656 | BRCA2 | c.6529A>C (p.Ile2177Leu) c.6160A>C (p.Ile2054Leu) n.6529A>C | ClinVar dbSNP |
| 13 | g.32340884A>G | CA387789658 | BRCA2 | c.6529A>G (p.Ile2177Val) c.6160A>G (p.Ile2054Val) n.6529A>G | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32340884A>T | CA387789654 | BRCA2 | c.6529A>T (p.Ile2177Phe) c.6160A>T (p.Ile2054Phe) n.6529A>T | ClinVar dbSNP |
| 13 | g.32340885T>A | CA387789661 | BRCA2 | c.6530T>A (p.Ile2177Asn) c.6161T>A (p.Ile2054Asn) n.6530T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340885T>C | CA16613906 | BRCA2 | c.6530T>C (p.Ile2177Thr) c.6161T>C (p.Ile2054Thr) n.6530T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340885T>G | CA387789663 | BRCA2 | c.6530T>G (p.Ile2177Ser) c.6161T>G (p.Ile2054Ser) n.6530T>G | |
| 13 | g.32340885T= | CA2082815566 | BRCA2 | c.6530T= (p.Ile2177=) c.6161T= (p.Ile2054=) n.6530T= | |
| 13 | g.32340886dup | CA10589387 | BRCA2 | c.6531dup (p.His2178SerfsTer11) c.6162dup (p.His2055SerfsTer11) n.6531dup | ClinVar dbSNP |
| 13 | g.32340886T>A | CA024138 | BRCA2 | c.6531T>A (p.Ile2177=) c.6162T>A (p.Ile2054=) n.6531T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340886T>C | CA024140 | BRCA2 | c.6531T>C (p.Ile2177=) c.6162T>C (p.Ile2054=) n.6531T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340886T>G | CA387789665 | BRCA2 | c.6531T>G (p.Ile2177Met) c.6162T>G (p.Ile2054Met) n.6531T>G | |
| 13 | g.32340886T= | CA2082815573 | BRCA2 | c.6531T= (p.Ile2177=) c.6162T= (p.Ile2054=) n.6531T= | |
| 13 | g.32340887C>A | CA024142 | BRCA2 | c.6532C>A (p.His2178Asn) c.6163C>A (p.His2055Asn) n.6532C>A | ClinVar dbSNP |
| 13 | g.32340887C= | CA2082815586 | BRCA2 | c.6532C= (p.His2178=) c.6163C= (p.His2055=) n.6532C= | |
| 13 | g.32340887C>G | CA6940966 | BRCA2 | c.6532C>G (p.His2178Asp) c.6163C>G (p.His2055Asp) n.6532C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340887C>T | CA024144 | BRCA2 | c.6532C>T (p.His2178Tyr) c.6163C>T (p.His2055Tyr) n.6532C>T | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32340887dup | CA10575925 | BRCA2 | c.6532dup (p.His2178ProfsTer11) c.6163dup (p.His2055ProfsTer11) n.6532dup | ClinVar dbSNP |
| 13 | g.32340887_32340888insT | CA10589388 | BRCA2 | c.6532_6533insT (p.His2178LeufsTer11) c.6163_6164insT (p.His2055LeufsTer11) n.6532_6533insT | ClinVar dbSNP |
| 13 | g.32340888A>C | CA387789673 | BRCA2 | c.6533A>C (p.His2178Pro) c.6164A>C (p.His2055Pro) n.6533A>C | |
| 13 | g.32340888A>G | CA387789675 | BRCA2 | c.6533A>G (p.His2178Arg) c.6164A>G (p.His2055Arg) n.6533A>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32340888A>T | CA387789677 | BRCA2 | c.6533A>T (p.His2178Leu) c.6164A>T (p.His2055Leu) n.6533A>T | |
| 13 | g.32340888_32340893del | CA2573053818 | BRCA2 | c.6533_6538del (p.His2178_Val2179del) c.6164_6169del (p.His2055_Val2056del) n.6533_6538del | ClinVar dbSNP |
| 13 | g.32340889T>A | CA387789680 | BRCA2 | c.6534T>A (p.His2178Gln) c.6165T>A (p.His2055Gln) n.6534T>A | dbSNP |
| 13 | g.32340889T>C | CA6940967 | BRCA2 | c.6534T>C (p.His2178=) c.6165T>C (p.His2055=) n.6534T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340889T>G | CA387789684 | BRCA2 | c.6534T>G (p.His2178Gln) c.6165T>G (p.His2055Gln) n.6534T>G | |
| 13 | g.32340889T= | CA2082815605 | BRCA2 | c.6534T= (p.His2178=) c.6165T= (p.His2055=) n.6534T= | |
| 13 | g.32340889_32340890insA | CA658823578 | BRCA2 | c.6534_6535insA (p.Val2179SerfsTer10) c.6165_6166insA (p.Val2056SerfsTer10) n.6534_6535insA | ClinVar dbSNP |
| 13 | g.32340890G>A | CA387789694 | BRCA2 | c.6535G>A (p.Val2179Ile) c.6166G>A (p.Val2056Ile) n.6535G>A | ClinVar |
| 13 | g.32340890G>C | CA10579701 | BRCA2 | c.6535G>C (p.Val2179Leu) c.6166G>C (p.Val2056Leu) n.6535G>C | ClinVar dbSNP |
| 13 | g.32340890G= | CA2082815621 | BRCA2 | c.6535G= (p.Val2179=) c.6166G= (p.Val2056=) n.6535G= | |
| 13 | g.32340890G>T | CA387789691 | BRCA2 | c.6535G>T (p.Val2179Phe) c.6166G>T (p.Val2056Phe) n.6535G>T |