Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.94464115G>A | CA382372637 | MRE11 | c.1223C>T (p.Thr408Ile) c.1232C>T (p.Thr411Ile) c.755C>T (p.Thr252Ile) n.1519C>T | |
11 | g.94464115G>C | CA382372638 | MRE11 | c.1223C>G (p.Thr408Arg) c.1232C>G (p.Thr411Arg) c.755C>G (p.Thr252Arg) n.1519C>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.94464115G= | CA1992468503 | MRE11 | c.1223C= (p.Thr408=) c.1232C= (p.Thr411=) c.755C= (p.Thr252=) n.1519C= | |
11 | g.94464115G>T | CA382372639 | MRE11 | c.1223C>A (p.Thr408Lys) c.1232C>A (p.Thr411Lys) c.755C>A (p.Thr252Lys) n.1519C>A | ClinVar COSMIC COSMIC |
11 | g.94464115_94464116insCTTACCTATAA | CA2615589363 | MRE11 | c.1222_1223insTTATAGGTAAG (p.Thr408IlefsTer24) c.1231_1232insTTATAGGTAAG (p.Thr411IlefsTer24) c.754_755insTTATAGGTAAG (p.Thr252IlefsTer24) n.1518_1519insTTATAGGTAAG | gnomAD v4 |
11 | g.94464116T>A | CA382372640 | MRE11 | c.1222A>T (p.Thr408Ser) c.1231A>T (p.Thr411Ser) c.754A>T (p.Thr252Ser) n.1518A>T | |
11 | g.94464116T>C | CA382372641 | MRE11 | c.1222A>G (p.Thr408Ala) c.1231A>G (p.Thr411Ala) c.754A>G (p.Thr252Ala) n.1518A>G | |
11 | g.94464116T>G | CA382372642 | MRE11 | c.1222A>C (p.Thr408Pro) c.1231A>C (p.Thr411Pro) c.754A>C (p.Thr252Pro) n.1518A>C | |
11 | g.94464121dup | CA189291 | MRE11 | c.1222dup (p.Thr408AsnfsTer?) c.1231dup (p.Thr411AsnfsTer?) c.754dup (p.Thr252AsnfsTer?) n.1518dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.94464121del | CA2615589366 | MRE11 | c.1222del (p.Thr408GlnfsTer20) c.1231del (p.Thr411GlnfsTer20) c.754del (p.Thr252GlnfsTer20) n.1518del | dbSNP gnomAD v4 |
11 | g.94464117T>A | CA382372643 | MRE11 | c.1221A>T (p.Lys407Asn) c.1230A>T (p.Lys410Asn) c.753A>T (p.Lys251Asn) n.1517A>T | gnomAD v4 |
11 | g.94464117T>C | CA476282396 | MRE11 | c.1221A>G (p.Lys407=) c.1230A>G (p.Lys410=) c.753A>G (p.Lys251=) n.1517A>G | |
11 | g.94464117T>G | CA288161 | MRE11 | c.1221A>C (p.Lys407Asn) c.1230A>C (p.Lys410Asn) c.753A>C (p.Lys251Asn) n.1517A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.94464117T= | CA1992468513 | MRE11 | c.1221A= (p.Lys407=) c.1230A= (p.Lys410=) c.753A= (p.Lys251=) n.1517A= | |
11 | g.94464118T>A | CA382372644 | MRE11 | c.1220A>T (p.Lys407Ile) c.1229A>T (p.Lys410Ile) c.752A>T (p.Lys251Ile) n.1516A>T | |
11 | g.94464118T>C | CA382372645 | MRE11 | c.1220A>G (p.Lys407Arg) c.1229A>G (p.Lys410Arg) c.752A>G (p.Lys251Arg) n.1516A>G | |
11 | g.94464118T>G | CA382372646 | MRE11 | c.1220A>C (p.Lys407Thr) c.1229A>C (p.Lys410Thr) c.752A>C (p.Lys251Thr) n.1516A>C | |
11 | g.94464119T>A | CA382372649 | MRE11 | c.1219A>T (p.Lys407Ter) c.1228A>T (p.Lys410Ter) c.751A>T (p.Lys251Ter) n.1515A>T | |
11 | g.94464119T>C | CA382372647 | MRE11 | c.1219A>G (p.Lys407Glu) c.1228A>G (p.Lys410Glu) c.751A>G (p.Lys251Glu) n.1515A>G | |
11 | g.94464119T>G | CA382372648 | MRE11 | c.1219A>C (p.Lys407Gln) c.1228A>C (p.Lys410Gln) c.751A>C (p.Lys251Gln) n.1515A>C | ClinVar dbSNP |
11 | g.94464119T= | CA1992468521 | MRE11 | c.1219A= (p.Lys407=) c.1228A= (p.Lys410=) c.751A= (p.Lys251=) n.1515A= | |
11 | g.94464119_94464120insATATTTACCATAAAAATAACTAACTAACAAAAGAACTAGC | CA2615589376 | MRE11 | c.1218_1219insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT (p.Lys407AlafsTer7) c.1227_1228insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT (p.Lys410AlafsTer7) c.750_751insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT (p.Lys251AlafsTer7) n.1514_1515insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT | gnomAD v4 |
11 | g.94464120T>A | CA382372651 | MRE11 | c.1218A>T (p.Glu406Asp) c.1227A>T (p.Glu409Asp) c.750A>T (p.Glu250Asp) n.1514A>T | |
11 | g.94464120T>C | CA476282397 | MRE11 | c.1218A>G (p.Glu406=) c.1227A>G (p.Glu409=) c.750A>G (p.Glu250=) n.1514A>G | |
11 | g.94464120T>G | CA382372652 | MRE11 | c.1218A>C (p.Glu406Asp) c.1227A>C (p.Glu409Asp) c.750A>C (p.Glu250Asp) n.1514A>C | |
11 | g.94464121T>A | CA382372653 | MRE11 | c.1217A>T (p.Glu406Val) c.1226A>T (p.Glu409Val) c.749A>T (p.Glu250Val) n.1513A>T | |
11 | g.94464121T>C | CA382372654 | MRE11 | c.1217A>G (p.Glu406Gly) c.1226A>G (p.Glu409Gly) c.749A>G (p.Glu250Gly) n.1513A>G | gnomAD v4 |
11 | g.94464121T>G | CA382372656 | MRE11 | c.1217A>C (p.Glu406Ala) c.1226A>C (p.Glu409Ala) c.749A>C (p.Glu250Ala) n.1513A>C | |
11 | g.94464122C>A | CA382372657 | MRE11 | c.1216G>T (p.Glu406Ter) c.1225G>T (p.Glu409Ter) c.748G>T (p.Glu250Ter) n.1512G>T | |
11 | g.94464122C= | CA1992468524 | MRE11 | c.1216G= (p.Glu406=) c.1225G= (p.Glu409=) c.748G= (p.Glu250=) n.1512G= | |
11 | g.94464122C>G | CA382372658 | MRE11 | c.1216G>C (p.Glu406Gln) c.1225G>C (p.Glu409Gln) c.748G>C (p.Glu250Gln) n.1512G>C | |
11 | g.94464122C>T | CA382372659 | MRE11 | c.1216G>A (p.Glu406Lys) c.1225G>A (p.Glu409Lys) c.748G>A (p.Glu250Lys) n.1512G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.94464123C>A | CA382372660 | MRE11 | c.1215G>T (p.Lys405Asn) c.1224G>T (p.Lys408Asn) c.747G>T (p.Lys249Asn) n.1511G>T | |
11 | g.94464123C= | CA1992468528 | MRE11 | c.1215G= (p.Lys405=) c.1224G= (p.Lys408=) c.747G= (p.Lys249=) n.1511G= | |
11 | g.94464123C>G | CA382372662 | MRE11 | c.1215G>C (p.Lys405Asn) c.1224G>C (p.Lys408Asn) c.747G>C (p.Lys249Asn) n.1511G>C | gnomAD v4 |
11 | g.94464123C>T | CA476282398 | MRE11 | c.1215G>A (p.Lys405=) c.1224G>A (p.Lys408=) c.747G>A (p.Lys249=) n.1511G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.94464124T>A | CA382372666 | MRE11 | c.1214A>T (p.Lys405Met) c.1223A>T (p.Lys408Met) c.746A>T (p.Lys249Met) n.1510A>T | |
11 | g.94464124T>C | CA382372665 | MRE11 | c.1214A>G (p.Lys405Arg) c.1223A>G (p.Lys408Arg) c.746A>G (p.Lys249Arg) n.1510A>G | |
11 | g.94464124T>G | CA382372663 | MRE11 | c.1214A>C (p.Lys405Thr) c.1223A>C (p.Lys408Thr) c.746A>C (p.Lys249Thr) n.1510A>C | |
11 | g.94464125T>A | CA382372668 | MRE11 | c.1213A>T (p.Lys405Ter) c.1222A>T (p.Lys408Ter) c.745A>T (p.Lys249Ter) n.1509A>T | |
11 | g.94464125T>C | CA382372669 | MRE11 | c.1213A>G (p.Lys405Glu) c.1222A>G (p.Lys408Glu) c.745A>G (p.Lys249Glu) n.1509A>G | |
11 | g.94464125T>G | CA382372671 | MRE11 | c.1213A>C (p.Lys405Gln) c.1222A>C (p.Lys408Gln) c.745A>C (p.Lys249Gln) n.1509A>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.94464125T= | CA1992468533 | MRE11 | c.1213A= (p.Lys405=) c.1222A= (p.Lys408=) c.745A= (p.Lys249=) n.1509A= | |
11 | g.94464126T>A | CA382372673 | MRE11 | c.1212A>T (p.Gln404His) c.1221A>T (p.Gln407His) c.744A>T (p.Gln248His) n.1508A>T | |
11 | g.94464126T>C | CA476282399 | MRE11 | c.1212A>G (p.Gln404=) c.1221A>G (p.Gln407=) c.744A>G (p.Gln248=) n.1508A>G | |
11 | g.94464126T>G | CA382372675 | MRE11 | c.1212A>C (p.Gln404His) c.1221A>C (p.Gln407His) c.744A>C (p.Gln248His) n.1508A>C | dbSNP |
11 | g.94464126T= | CA1992468542 | MRE11 | c.1212A= (p.Gln404=) c.1221A= (p.Gln407=) c.744A= (p.Gln248=) n.1508A= | |
11 | g.94464127T>A | CA382372676 | MRE11 | c.1211A>T (p.Gln404Leu) c.1220A>T (p.Gln407Leu) c.743A>T (p.Gln248Leu) n.1507A>T | gnomAD v4 |
11 | g.94464127T>C | CA382372678 | MRE11 | c.1211A>G (p.Gln404Arg) c.1220A>G (p.Gln407Arg) c.743A>G (p.Gln248Arg) n.1507A>G | |
11 | g.94464127T>G | CA382372680 | MRE11 | c.1211A>C (p.Gln404Pro) c.1220A>C (p.Gln407Pro) c.743A>C (p.Gln248Pro) n.1507A>C |