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.32340735G>A | CA387789190 | BRCA2 | c.6380G>A (p.Ser2127Asn) c.6011G>A (p.Ser2004Asn) n.6380G>A | dbSNP |
13 | g.32340735G>C | CA387789191 | BRCA2 | c.6380G>C (p.Ser2127Thr) c.6011G>C (p.Ser2004Thr) n.6380G>C | |
13 | g.32340735G>T | CA387789192 | BRCA2 | c.6380G>T (p.Ser2127Ile) c.6011G>T (p.Ser2004Ile) n.6380G>T | |
13 | g.32340736T>A | CA387789194 | BRCA2 | c.6381T>A (p.Ser2127Arg) c.6012T>A (p.Ser2004Arg) n.6381T>A | |
13 | g.32340736T>C | CA483438838 | BRCA2 | c.6381T>C (p.Ser2127=) c.6012T>C (p.Ser2004=) n.6381T>C | |
13 | g.32340736T>G | CA387789193 | BRCA2 | c.6381T>G (p.Ser2127Arg) c.6012T>G (p.Ser2004Arg) n.6381T>G | dbSNP |
13 | g.32340736_32340737insTT | CA2499222232 | BRCA2 | c.6381_6382insTT (p.Lys2128LeufsTer10) c.6012_6013insTT (p.Lys2005LeufsTer10) n.6381_6382insTT | |
13 | g.32340736_32340741delinsTAAAGA | CA2082813911 | BRCA2 | c.6381_6386delinsTAAAGA (p.Ser2127=) c.6012_6017delinsTAAAGA (p.Ser2004=) n.6381_6386delinsTAAAGA | |
13 | g.32340737A= | CA2082813923 | BRCA2 | c.6382A= (p.Lys2128=) c.6013A= (p.Lys2005=) n.6382A= | |
13 | g.32340737A>C | CA387789195 | BRCA2 | c.6382A>C (p.Lys2128Gln) c.6013A>C (p.Lys2005Gln) n.6382A>C | |
13 | g.32340737A>G | CA6940947 | BRCA2 | c.6382A>G (p.Lys2128Glu) c.6013A>G (p.Lys2005Glu) n.6382A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340737A>T | CA023965 | BRCA2 | c.6382A>T (p.Lys2128Ter) c.6013A>T (p.Lys2005Ter) n.6382A>T | ClinVar dbSNP |
13 | g.32340738_32340742del | CA919242697 | BRCA2 | c.6383_6387del (p.Lys2128IlefsTer2) c.6014_6018del (p.Lys2005IlefsTer2) n.6383_6387del | ClinVar dbSNP |
13 | g.32340738A= | CA2082813927 | BRCA2 | c.6383A= (p.Lys2128=) c.6014A= (p.Lys2005=) n.6383A= | |
13 | g.32340738A>C | CA023967 | BRCA2 | c.6383A>C (p.Lys2128Thr) c.6014A>C (p.Lys2005Thr) n.6383A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340738A>G | CA387789196 | BRCA2 | c.6383A>G (p.Lys2128Arg) c.6014A>G (p.Lys2005Arg) n.6383A>G | dbSNP |
13 | g.32340738A>T | CA387789197 | BRCA2 | c.6383A>T (p.Lys2128Ile) c.6014A>T (p.Lys2005Ile) n.6383A>T | dbSNP |
13 | g.32340740_32340742del | CA2580087901 | BRCA2 | c.6385_6387del (p.Glu2129del) c.6016_6018del (p.Glu2006del) n.6385_6387del | ClinVar |
13 | g.32340739A= | CA2082813940 | BRCA2 | c.6384A= (p.Lys2128=) c.6015A= (p.Lys2005=) n.6384A= | |
13 | g.32340739A>C | CA023970 | BRCA2 | c.6384A>C (p.Lys2128Asn) c.6015A>C (p.Lys2005Asn) n.6384A>C | ClinVar dbSNP |
13 | g.32340739A>G | CA483438839 | BRCA2 | c.6384A>G (p.Lys2128=) c.6015A>G (p.Lys2005=) n.6384A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340739A>T | CA387789198 | BRCA2 | c.6384A>T (p.Lys2128Asn) c.6015A>T (p.Lys2005Asn) n.6384A>T | dbSNP |
13 | g.32340740G>A | CA387789199 | BRCA2 | c.6385G>A (p.Glu2129Lys) c.6016G>A (p.Glu2006Lys) n.6385G>A | dbSNP |
13 | g.32340740G>C | CA387789200 | BRCA2 | c.6385G>C (p.Glu2129Gln) c.6016G>C (p.Glu2006Gln) n.6385G>C | dbSNP |
13 | g.32340740G= | CA2082813947 | BRCA2 | c.6385G= (p.Glu2129=) c.6016G= (p.Glu2006=) n.6385G= | |
13 | g.32340740G>T | CA10589373 | BRCA2 | c.6385G>T (p.Glu2129Ter) c.6016G>T (p.Glu2006Ter) n.6385G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32340741A= | CA2082813964 | BRCA2 | c.6386A= (p.Glu2129=) c.6017A= (p.Glu2006=) n.6386A= | |
13 | g.32340741A>C | CA387789201 | BRCA2 | c.6386A>C (p.Glu2129Ala) c.6017A>C (p.Glu2006Ala) n.6386A>C | |
13 | g.32340741A>G | CA387789202 | BRCA2 | c.6386A>G (p.Glu2129Gly) c.6017A>G (p.Glu2006Gly) n.6386A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32340741A>T | CA387789203 | BRCA2 | c.6386A>T (p.Glu2129Val) c.6017A>T (p.Glu2006Val) n.6386A>T | dbSNP gnomAD v4 |
13 | g.32340742del | CA2499222233 | BRCA2 | c.6387del (p.Glu2129AspfsTer8) c.6018del (p.Glu2006AspfsTer8) n.6387del | ClinVar dbSNP |
13 | g.32340743_32340747del | CA2573149192 | BRCA2 | c.6388_6392del (p.Phe2130IlefsTer4) c.6019_6023del (p.Phe2007IlefsTer4) n.6388_6392del | ClinVar dbSNP |
13 | g.32340741_32340750delinsAATTTAAATT | CA2082813967 | BRCA2 | c.6386_6395delinsAATTTAAATT (p.Glu2129=) c.6017_6026delinsAATTTAAATT (p.Glu2006=) n.6386_6395delinsAATTTAAATT | |
13 | g.32340742A= | CA2082813977 | BRCA2 | c.6387A= (p.Glu2129=) c.6018A= (p.Glu2006=) n.6387A= | |
13 | g.32340742A>C | CA387789205 | BRCA2 | c.6387A>C (p.Glu2129Asp) c.6018A>C (p.Glu2006Asp) n.6387A>C | |
13 | g.32340742A>G | CA483438840 | BRCA2 | c.6387A>G (p.Glu2129=) c.6018A>G (p.Glu2006=) n.6387A>G | |
13 | g.32340742A>T | CA387789204 | BRCA2 | c.6387A>T (p.Glu2129Asp) c.6018A>T (p.Glu2006Asp) n.6387A>T | ClinVar dbSNP |
13 | g.32340742_32340750delinsTTTA | CA915948507 | BRCA2 | c.6387_6395delinsTTTA (p.Glu2129AspfsTer5) c.6018_6026delinsTTTA (p.Glu2006AspfsTer5) n.6387_6395delinsTTTA | ClinVar dbSNP |
13 | g.32340743T>A | CA387789206 | BRCA2 | c.6388T>A (p.Phe2130Ile) c.6019T>A (p.Phe2007Ile) n.6388T>A | ClinVar dbSNP |
13 | g.32340743T>C | CA16613994 | BRCA2 | c.6388T>C (p.Phe2130Leu) c.6019T>C (p.Phe2007Leu) n.6388T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340743T>G | CA387789207 | BRCA2 | c.6388T>G (p.Phe2130Val) c.6019T>G (p.Phe2007Val) n.6388T>G | dbSNP |
13 | g.32340743T= | CA2082813985 | BRCA2 | c.6388T= (p.Phe2130=) c.6019T= (p.Phe2007=) n.6388T= | |
13 | g.32340745dup | CA023972 | BRCA2 | c.6390dup (p.Lys2131Ter) c.6021dup (p.Lys2008Ter) n.6390dup | ClinVar dbSNP |
13 | g.32340745del | CA913189206 | BRCA2 | c.6390del (p.Phe2130LeufsTer7) c.6021del (p.Phe2007LeufsTer7) n.6390del | |
13 | g.32340743_32340748delinsTTTAAA | CA2082813982 | BRCA2 | c.6388_6393delinsTTTAAA (p.Phe2130=) c.6019_6024delinsTTTAAA (p.Phe2007=) n.6388_6393delinsTTTAAA | |
13 | g.32340744T>A | CA387789208 | BRCA2 | c.6389T>A (p.Phe2130Tyr) c.6020T>A (p.Phe2007Tyr) n.6389T>A | dbSNP |
13 | g.32340744T>C | CA387789209 | BRCA2 | c.6389T>C (p.Phe2130Ser) c.6020T>C (p.Phe2007Ser) n.6389T>C | dbSNP |
13 | g.32340744T>G | CA387789210 | BRCA2 | c.6389T>G (p.Phe2130Cys) c.6020T>G (p.Phe2007Cys) n.6389T>G | ClinVar dbSNP |