Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.94478782G>A | CA167765 | MRE11 | c.497C>T (p.Pro166Leu) c.506C>T (p.Pro169Leu) n.573C>T c.29C>T (p.Pro10Leu) n.793C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.94478782G>C | CA382377406 | MRE11 | c.497C>G (p.Pro166Arg) c.506C>G (p.Pro169Arg) n.573C>G c.29C>G (p.Pro10Arg) n.793C>G | |
11 | g.94478782G= | CA1992436673 | MRE11 | c.497C= (p.Pro166=) c.506C= (p.Pro169=) n.573C= c.29C= (p.Pro10=) n.793C= | |
11 | g.94478782G>T | CA382377408 | MRE11 | c.497C>A (p.Pro166Gln) c.506C>A (p.Pro169Gln) n.573C>A c.29C>A (p.Pro10Gln) n.793C>A | gnomAD v4 |
11 | g.94478783G>A | CA382377413 | MRE11 | c.496C>T (p.Pro166Ser) c.505C>T (p.Pro169Ser) n.572C>T c.28C>T (p.Pro10Ser) n.792C>T | ClinVar |
11 | g.94478783G>C | CA169549 | MRE11 | c.496C>G (p.Pro166Ala) c.505C>G (p.Pro169Ala) n.572C>G c.28C>G (p.Pro10Ala) n.792C>G | ClinVar dbSNP |
11 | g.94478783G= | CA1992436679 | MRE11 | c.496C= (p.Pro166=) c.505C= (p.Pro169=) n.572C= c.28C= (p.Pro10=) n.792C= | |
11 | g.94478783G>T | CA382377411 | MRE11 | c.496C>A (p.Pro166Thr) c.505C>A (p.Pro169Thr) n.572C>A c.28C>A (p.Pro10Thr) n.792C>A | |
11 | g.94478784_94478790dup | CA2697548883 | MRE11 | c.490_496dup (p.Pro166HisfsTer2) c.499_505dup (p.Pro169HisfsTer2) n.566_572dup c.22_28dup (p.Pro10HisfsTer2) n.786_792dup | ClinVar |
11 | g.94478784A>C | CA382377416 | MRE11 | c.495T>G (p.Ser165Arg) c.504T>G (p.Ser168Arg) n.571T>G c.27T>G (p.Ser9Arg) n.791T>G | |
11 | g.94478784A>G | CA476286868 | MRE11 | c.495T>C (p.Ser165=) c.504T>C (p.Ser168=) n.571T>C c.27T>C (p.Ser9=) n.791T>C | ClinVar gnomAD v4 |
11 | g.94478784A>T | CA382377418 | MRE11 | c.495T>A (p.Ser165Arg) c.504T>A (p.Ser168Arg) n.571T>A c.27T>A (p.Ser9Arg) n.791T>A | |
11 | g.94478785C>A | CA382377420 | MRE11 | c.494G>T (p.Ser165Ile) c.503G>T (p.Ser168Ile) n.570G>T c.26G>T (p.Ser9Ile) n.790G>T | dbSNP |
11 | g.94478785C>G | CA382377422 | MRE11 | c.494G>C (p.Ser165Thr) c.503G>C (p.Ser168Thr) n.570G>C c.26G>C (p.Ser9Thr) n.790G>C | |
11 | g.94478785C>T | CA382377424 | MRE11 | c.494G>A (p.Ser165Asn) c.503G>A (p.Ser168Asn) n.570G>A c.26G>A (p.Ser9Asn) n.790G>A | ClinVar |
11 | g.94478786T>A | CA382377426 | MRE11 | c.493A>T (p.Ser165Cys) c.502A>T (p.Ser168Cys) n.569A>T c.25A>T (p.Ser9Cys) n.789A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.94478786T>C | CA382377428 | MRE11 | c.493A>G (p.Ser165Gly) c.502A>G (p.Ser168Gly) n.569A>G c.25A>G (p.Ser9Gly) n.789A>G | |
11 | g.94478786T>G | CA6235384 | MRE11 | c.493A>C (p.Ser165Arg) c.502A>C (p.Ser168Arg) n.569A>C c.25A>C (p.Ser9Arg) n.789A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.94478786T= | CA1992436690 | MRE11 | c.493A= (p.Ser165=) c.502A= (p.Ser168=) n.569A= c.25A= (p.Ser9=) n.789A= | |
11 | g.94478787A= | CA1992436695 | MRE11 | c.492T= (p.Ile164=) c.501T= (p.Ile167=) n.568T= c.24T= (p.Ile8=) n.788T= | |
11 | g.94478787A>C | CA382377431 | MRE11 | c.492T>G (p.Ile164Met) c.501T>G (p.Ile167Met) n.568T>G c.24T>G (p.Ile8Met) n.788T>G | |
11 | g.94478787A>G | CA197025 | MRE11 | c.492T>C (p.Ile164=) c.501T>C (p.Ile167=) n.568T>C c.24T>C (p.Ile8=) n.788T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.94478787A>T | CA476286869 | MRE11 | c.492T>A (p.Ile164=) c.501T>A (p.Ile167=) n.568T>A c.24T>A (p.Ile8=) n.788T>A | |
11 | g.94478788A= | CA1992436698 | MRE11 | c.491T= (p.Ile164=) c.500T= (p.Ile167=) n.567T= c.23T= (p.Ile8=) n.787T= | |
11 | g.94478788A>C | CA382377435 | MRE11 | c.491T>G (p.Ile164Ser) c.500T>G (p.Ile167Ser) n.567T>G c.23T>G (p.Ile8Ser) n.787T>G | dbSNP gnomAD v4 |
11 | g.94478788A>G | CA382377436 | MRE11 | c.491T>C (p.Ile164Thr) c.500T>C (p.Ile167Thr) n.567T>C c.23T>C (p.Ile8Thr) n.787T>C | |
11 | g.94478788A>T | CA382377438 | MRE11 | c.491T>A (p.Ile164Asn) c.500T>A (p.Ile167Asn) n.567T>A c.23T>A (p.Ile8Asn) n.787T>A | |
11 | g.94478789T>A | CA382377443 | MRE11 | c.490A>T (p.Ile164Phe) c.499A>T (p.Ile167Phe) n.566A>T c.22A>T (p.Ile8Phe) n.786A>T | |
11 | g.94478789T>C | CA6235385 | MRE11 | c.490A>G (p.Ile164Val) c.499A>G (p.Ile167Val) n.566A>G c.22A>G (p.Ile8Val) n.786A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.94478789T>G | CA382377441 | MRE11 | c.490A>C (p.Ile164Leu) c.499A>C (p.Ile167Leu) n.566A>C c.22A>C (p.Ile8Leu) n.786A>C | |
11 | g.94478789T= | CA1992436701 | MRE11 | c.490A= (p.Ile164=) c.499A= (p.Ile167=) n.566A= c.22A= (p.Ile8=) n.786A= | |
11 | g.94478790_94478791del | CA2615590112 | MRE11 | c.489_490del (p.Ile164Ter) c.498_499del (p.Ile167Ter) n.565_566del c.21_22del (p.Ile8Ter) n.785_786del | ClinVar gnomAD v4 |
11 | g.94478790G>A | CA6235386 | MRE11 | c.489C>T (p.Asp163=) c.498C>T (p.Asp166=) n.565C>T c.21C>T (p.Asp7=) n.785C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.94478790G>C | CA382377446 | MRE11 | c.489C>G (p.Asp163Glu) c.498C>G (p.Asp166Glu) n.565C>G c.21C>G (p.Asp7Glu) n.785C>G | |
11 | g.94478790G= | CA1992436715 | MRE11 | c.489C= (p.Asp163=) c.498C= (p.Asp166=) n.565C= c.21C= (p.Asp7=) n.785C= | |
11 | g.94478790G>T | CA382377448 | MRE11 | c.489C>A (p.Asp163Glu) c.498C>A (p.Asp166Glu) n.565C>A c.21C>A (p.Asp7Glu) n.785C>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.94478791T>A | CA382377451 | MRE11 | c.488A>T (p.Asp163Val) c.497A>T (p.Asp166Val) n.564A>T c.20A>T (p.Asp7Val) n.784A>T | |
11 | g.94478791T>C | CA382377452 | MRE11 | c.488A>G (p.Asp163Gly) c.497A>G (p.Asp166Gly) n.564A>G c.20A>G (p.Asp7Gly) n.784A>G | gnomAD v4 |
11 | g.94478791T>G | CA16613513 | MRE11 | c.488A>C (p.Asp163Ala) c.497A>C (p.Asp166Ala) n.564A>C c.20A>C (p.Asp7Ala) n.784A>C | ClinVar dbSNP gnomAD v4 |
11 | g.94478791T= | CA1992436730 | MRE11 | c.488A= (p.Asp163=) c.497A= (p.Asp166=) n.564A= c.20A= (p.Asp7=) n.784A= | |
11 | g.94478792C>A | CA382377455 | MRE11 | c.487G>T (p.Asp163Tyr) c.496G>T (p.Asp166Tyr) n.563G>T c.19G>T (p.Asp7Tyr) n.783G>T | |
11 | g.94478792C>G | CA382377457 | MRE11 | c.487G>C (p.Asp163His) c.496G>C (p.Asp166His) n.563G>C c.19G>C (p.Asp7His) n.783G>C | |
11 | g.94478792C>T | CA382377458 | MRE11 | c.487G>A (p.Asp163Asn) c.496G>A (p.Asp166Asn) n.563G>A c.19G>A (p.Asp7Asn) n.783G>A | |
11 | g.94478793T>A | CA476286870 | MRE11 | c.486A>T (p.Ile162=) c.495A>T (p.Ile165=) n.562A>T c.18A>T (p.Ile6=) n.782A>T | |
11 | g.94478793T>C | CA382377459 | MRE11 | c.486A>G (p.Ile162Met) c.495A>G (p.Ile165Met) n.562A>G c.18A>G (p.Ile6Met) n.782A>G | ClinVar |
11 | g.94478793T>G | CA476286871 | MRE11 | c.486A>C (p.Ile162=) c.495A>C (p.Ile165=) n.562A>C c.18A>C (p.Ile6=) n.782A>C | |
11 | g.94478794A= | CA1992436741 | MRE11 | c.485T= (p.Ile162=) c.494T= (p.Ile165=) n.561T= c.17T= (p.Ile6=) n.781T= | |
11 | g.94478794A>C | CA382377462 | MRE11 | c.485T>G (p.Ile162Arg) c.494T>G (p.Ile165Arg) n.561T>G c.17T>G (p.Ile6Arg) n.781T>G | |
11 | g.94478794A>G | CA197993 | MRE11 | c.485T>C (p.Ile162Thr) c.494T>C (p.Ile165Thr) n.561T>C c.17T>C (p.Ile6Thr) n.781T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.94478794A>T | CA382377465 | MRE11 | c.485T>A (p.Ile162Lys) c.494T>A (p.Ile165Lys) n.561T>A c.17T>A (p.Ile6Lys) n.781T>A |