Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.94476318C>A | CA382376647 | MRE11 | c.630G>T (p.Trp210Cys) c.639G>T (p.Trp213Cys) c.162G>T (p.Trp54Cys) n.926G>T | |
11 | g.94476318C= | CA1992433143 | MRE11 | c.630G= (p.Trp210=) c.639G= (p.Trp213=) c.162G= (p.Trp54=) n.926G= | |
11 | g.94476318C>G | CA119930 | MRE11 | c.630G>C (p.Trp210Cys) c.639G>C (p.Trp213Cys) c.162G>C (p.Trp54Cys) n.926G>C | ClinVar dbSNP |
11 | g.94476318C>T | CA382376649 | MRE11 | c.630G>A (p.Trp210Ter) c.639G>A (p.Trp213Ter) c.162G>A (p.Trp54Ter) n.926G>A | |
11 | g.94476319C>A | CA382376653 | MRE11 | c.629G>T (p.Trp210Leu) c.638G>T (p.Trp213Leu) c.161G>T (p.Trp54Leu) n.925G>T | |
11 | g.94476319C>G | CA382376658 | MRE11 | c.629G>C (p.Trp210Ser) c.638G>C (p.Trp213Ser) c.161G>C (p.Trp54Ser) n.925G>C | |
11 | g.94476319C>T | CA382376655 | MRE11 | c.629G>A (p.Trp210Ter) c.638G>A (p.Trp213Ter) c.161G>A (p.Trp54Ter) n.925G>A | |
11 | g.94476319_94476321delinsCAA | CA1992433150 | MRE11 | c.627_629delinsTTG (p.Ser209=) c.636_638delinsTTG (p.Ser212=) c.159_161delinsTTG (p.Ser53=) n.923_925delinsTTG | |
11 | g.94476320A>C | CA382376662 | MRE11 | c.628T>G (p.Trp210Gly) c.637T>G (p.Trp213Gly) c.160T>G (p.Trp54Gly) n.924T>G | |
11 | g.94476320A>G | CA382376665 | MRE11 | c.628T>C (p.Trp210Arg) c.637T>C (p.Trp213Arg) c.160T>C (p.Trp54Arg) n.924T>C | |
11 | g.94476320A>T | CA382376668 | MRE11 | c.628T>A (p.Trp210Arg) c.637T>A (p.Trp213Arg) c.160T>A (p.Trp54Arg) n.924T>A | |
11 | g.94476320_94476321del | CA299298 | MRE11 | c.627_628del (p.Trp210ValfsTer2) c.636_637del (p.Trp213ValfsTer2) c.159_160del (p.Trp54ValfsTer2) n.923_924del | ClinVar dbSNP |
11 | g.94476321del | CA2580085086 | MRE11 | c.628del (p.Trp210GlyfsTer6) c.637del (p.Trp213GlyfsTer6) c.160del (p.Trp54GlyfsTer6) n.924del | ClinVar gnomAD v4 |
11 | g.94476321A>C | CA476286742 | MRE11 | c.627T>G (p.Ser209=) c.636T>G (p.Ser212=) c.159T>G (p.Ser53=) n.923T>G | |
11 | g.94476321A>G | CA476286743 | MRE11 | c.627T>C (p.Ser209=) c.636T>C (p.Ser212=) c.159T>C (p.Ser53=) n.923T>C | |
11 | g.94476321A>T | CA476286744 | MRE11 | c.627T>A (p.Ser209=) c.636T>A (p.Ser212=) c.159T>A (p.Ser53=) n.923T>A | |
11 | g.94476322G>A | CA382376671 | MRE11 | c.626C>T (p.Ser209Phe) c.635C>T (p.Ser212Phe) c.158C>T (p.Ser53Phe) n.922C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.94476322G>C | CA382376672 | MRE11 | c.626C>G (p.Ser209Cys) c.635C>G (p.Ser212Cys) c.158C>G (p.Ser53Cys) n.922C>G | |
11 | g.94476322G= | CA1992433157 | MRE11 | c.626C= (p.Ser209=) c.635C= (p.Ser212=) c.158C= (p.Ser53=) n.922C= | |
11 | g.94476322G>T | CA382376673 | MRE11 | c.626C>A (p.Ser209Tyr) c.635C>A (p.Ser212Tyr) c.158C>A (p.Ser53Tyr) n.922C>A | |
11 | g.94476323A>C | CA382376675 | MRE11 | c.625T>G (p.Ser209Ala) c.634T>G (p.Ser212Ala) c.157T>G (p.Ser53Ala) n.921T>G | |
11 | g.94476323A>G | CA382376676 | MRE11 | c.625T>C (p.Ser209Pro) c.634T>C (p.Ser212Pro) c.157T>C (p.Ser53Pro) n.921T>C | |
11 | g.94476323A>T | CA382376677 | MRE11 | c.625T>A (p.Ser209Thr) c.634T>A (p.Ser212Thr) c.157T>A (p.Ser53Thr) n.921T>A | |
11 | g.94476324G>A | CA476286745 | MRE11 | c.624C>T (p.Asn208=) c.633C>T (p.Asn211=) c.156C>T (p.Asn52=) n.920C>T | ClinVar dbSNP gnomAD v4 |
11 | g.94476324G>C | CA382376678 | MRE11 | c.624C>G (p.Asn208Lys) c.633C>G (p.Asn211Lys) c.156C>G (p.Asn52Lys) n.920C>G | gnomAD v4 |
11 | g.94476324G= | CA1992433168 | MRE11 | c.624C= (p.Asn208=) c.633C= (p.Asn211=) c.156C= (p.Asn52=) n.920C= | |
11 | g.94476324G>T | CA382376679 | MRE11 | c.624C>A (p.Asn208Lys) c.633C>A (p.Asn211Lys) c.156C>A (p.Asn52Lys) n.920C>A | |
11 | g.94476325T>A | CA382376681 | MRE11 | c.623A>T (p.Asn208Ile) c.632A>T (p.Asn211Ile) c.155A>T (p.Asn52Ile) n.919A>T | |
11 | g.94476325T>C | CA382376682 | MRE11 | c.623A>G (p.Asn208Ser) c.632A>G (p.Asn211Ser) c.155A>G (p.Asn52Ser) n.919A>G | |
11 | g.94476325T>G | CA382376683 | MRE11 | c.623A>C (p.Asn208Thr) c.632A>C (p.Asn211Thr) c.155A>C (p.Asn52Thr) n.919A>C | |
11 | g.94476326T>A | CA382376685 | MRE11 | c.622A>T (p.Asn208Tyr) c.631A>T (p.Asn211Tyr) c.154A>T (p.Asn52Tyr) n.918A>T | |
11 | g.94476326T>C | CA382376688 | MRE11 | c.622A>G (p.Asn208Asp) c.631A>G (p.Asn211Asp) c.154A>G (p.Asn52Asp) n.918A>G | |
11 | g.94476326T>G | CA382376689 | MRE11 | c.622A>C (p.Asn208His) c.631A>C (p.Asn211His) c.154A>C (p.Asn52His) n.918A>C | |
11 | g.94476327C>A | CA382376690 | MRE11 | c.621G>T (p.Glu207Asp) c.630G>T (p.Glu210Asp) c.153G>T (p.Glu51Asp) n.917G>T | |
11 | g.94476327C>G | CA382376693 | MRE11 | c.621G>C (p.Glu207Asp) c.630G>C (p.Glu210Asp) c.153G>C (p.Glu51Asp) n.917G>C | |
11 | g.94476327C>T | CA476286749 | MRE11 | c.621G>A (p.Glu207=) c.630G>A (p.Glu210=) c.153G>A (p.Glu51=) n.917G>A | ClinVar |
11 | g.94476328T>A | CA382376697 | MRE11 | c.620A>T (p.Glu207Val) c.629A>T (p.Glu210Val) c.152A>T (p.Glu51Val) n.916A>T | |
11 | g.94476328T>C | CA382376699 | MRE11 | c.620A>G (p.Glu207Gly) c.629A>G (p.Glu210Gly) c.152A>G (p.Glu51Gly) n.916A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.94476328T>G | CA382376702 | MRE11 | c.620A>C (p.Glu207Ala) c.629A>C (p.Glu210Ala) c.152A>C (p.Glu51Ala) n.916A>C | |
11 | g.94476328T= | CA1992433175 | MRE11 | c.620A= (p.Glu207=) c.629A= (p.Glu210=) c.152A= (p.Glu51=) n.916A= | |
11 | g.94476329C>A | CA382376704 | MRE11 | c.619G>T (p.Glu207Ter) c.628G>T (p.Glu210Ter) c.151G>T (p.Glu51Ter) n.915G>T | |
11 | g.94476329C>G | CA382376706 | MRE11 | c.619G>C (p.Glu207Gln) c.628G>C (p.Glu210Gln) c.151G>C (p.Glu51Gln) n.915G>C | |
11 | g.94476329C>T | CA382376708 | MRE11 | c.619G>A (p.Glu207Lys) c.628G>A (p.Glu210Lys) c.151G>A (p.Glu51Lys) n.915G>A | |
11 | g.94476330A= | CA1992433194 | MRE11 | c.618T= (p.Asp206=) c.627T= (p.Asp209=) c.150T= (p.Asp50=) n.914T= | |
11 | g.94476330A>C | CA382376710 | MRE11 | c.618T>G (p.Asp206Glu) c.627T>G (p.Asp209Glu) c.150T>G (p.Asp50Glu) n.914T>G | |
11 | g.94476330A>G | CA188823 | MRE11 | c.618T>C (p.Asp206=) c.627T>C (p.Asp209=) c.150T>C (p.Asp50=) n.914T>C | ClinVar dbSNP gnomAD v4 |
11 | g.94476330A>T | CA382376715 | MRE11 | c.618T>A (p.Asp206Glu) c.627T>A (p.Asp209Glu) c.150T>A (p.Asp50Glu) n.914T>A | |
11 | g.94476331T>A | CA382376718 | MRE11 | c.617A>T (p.Asp206Val) c.626A>T (p.Asp209Val) c.149A>T (p.Asp50Val) n.913A>T | |
11 | g.94476331T>C | CA382376720 | MRE11 | c.617A>G (p.Asp206Gly) c.626A>G (p.Asp209Gly) c.149A>G (p.Asp50Gly) n.913A>G | ClinVar |
11 | g.94476331T>G | CA382376723 | MRE11 | c.617A>C (p.Asp206Ala) c.626A>C (p.Asp209Ala) c.149A>C (p.Asp50Ala) n.913A>C | dbSNP |