| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.46726001C>A | CA380265096 | F2 | c.702C>A (p.Cys234Ter) c.672C>A (p.Cys224Ter) n.482C>A c.654C>A (p.Cys218Ter) n.746C>A n.737C>A | |
| 11 | g.46726001C>G | CA380265094 | F2 | c.702C>G (p.Cys234Trp) c.672C>G (p.Cys224Trp) n.482C>G c.654C>G (p.Cys218Trp) n.746C>G n.737C>G | |
| 11 | g.46726001C>T | CA474043720 | F2 | c.702C>T (p.Cys234=) c.672C>T (p.Cys224=) n.482C>T c.654C>T (p.Cys218=) n.746C>T n.737C>T | |
| 11 | g.46726002C>A | CA380265099 | F2 | c.703C>A (p.Leu235Met) c.673C>A (p.Leu225Met) n.483C>A c.655C>A (p.Leu219Met) n.747C>A n.738C>A | |
| 11 | g.46726002C= | CA1969072137 | F2 | c.703C= (p.Leu235=) c.673C= (p.Leu225=) n.483C= c.655C= (p.Leu219=) n.747C= n.738C= | |
| 11 | g.46726002C>G | CA380265101 | F2 | c.703C>G (p.Leu235Val) c.673C>G (p.Leu225Val) n.483C>G c.655C>G (p.Leu219Val) n.747C>G n.738C>G | |
| 11 | g.46726002C>T | CA474043721 | F2 | c.703C>T (p.Leu235=) c.673C>T (p.Leu225=) n.483C>T c.655C>T (p.Leu219=) n.747C>T n.738C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46726003T>A | CA380265104 | F2 | c.704T>A (p.Leu235Gln) c.674T>A (p.Leu225Gln) n.484T>A c.656T>A (p.Leu219Gln) n.748T>A n.739T>A | |
| 11 | g.46726003T>C | CA380265107 | F2 | c.704T>C (p.Leu235Pro) c.674T>C (p.Leu225Pro) n.484T>C c.656T>C (p.Leu219Pro) n.748T>C n.739T>C | |
| 11 | g.46726003T>G | CA380265109 | F2 | c.704T>G (p.Leu235Arg) c.674T>G (p.Leu225Arg) n.484T>G c.656T>G (p.Leu219Arg) n.748T>G n.739T>G | |
| 11 | g.46726004G>A | CA474043723 | F2 | c.705G>A (p.Leu235=) c.675G>A (p.Leu225=) n.485G>A c.657G>A (p.Leu219=) n.749G>A n.740G>A | |
| 11 | g.46726004G>C | CA474043724 | F2 | c.705G>C (p.Leu235=) c.675G>C (p.Leu225=) n.485G>C c.657G>C (p.Leu219=) n.749G>C n.740G>C | |
| 11 | g.46726004G>T | CA474043725 | F2 | c.705G>T (p.Leu235=) c.675G>T (p.Leu225=) n.485G>T c.657G>T (p.Leu219=) n.749G>T n.740G>T | |
| 11 | g.46726005G>A | CA5967041 | F2 | c.706G>A (p.Ala236Thr) c.676G>A (p.Ala226Thr) n.486G>A c.658G>A (p.Ala220Thr) n.750G>A n.741G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726005G>C | CA380265112 | F2 | c.706G>C (p.Ala236Pro) c.676G>C (p.Ala226Pro) n.486G>C c.658G>C (p.Ala220Pro) n.750G>C n.741G>C | |
| 11 | g.46726005G= | CA1969072142 | F2 | c.706G= (p.Ala236=) c.676G= (p.Ala226=) n.486G= c.658G= (p.Ala220=) n.750G= n.741G= | |
| 11 | g.46726005G>T | CA380265115 | F2 | c.706G>T (p.Ala236Ser) c.676G>T (p.Ala226Ser) n.486G>T c.658G>T (p.Ala220Ser) n.750G>T n.741G>T | gnomAD v4 |
| 11 | g.46726006C>A | CA380265116 | F2 | c.707C>A (p.Ala236Asp) c.677C>A (p.Ala226Asp) n.487C>A c.659C>A (p.Ala220Asp) n.751C>A n.742C>A | |
| 11 | g.46726006C>G | CA380265118 | F2 | c.707C>G (p.Ala236Gly) c.677C>G (p.Ala226Gly) n.487C>G c.659C>G (p.Ala220Gly) n.751C>G n.742C>G | |
| 11 | g.46726006C>T | CA380265119 | F2 | c.707C>T (p.Ala236Val) c.677C>T (p.Ala226Val) n.487C>T c.659C>T (p.Ala220Val) n.751C>T n.742C>T | |
| 11 | g.46726007C>A | CA474043726 | F2 | c.708C>A (p.Ala236=) c.678C>A (p.Ala226=) n.488C>A c.660C>A (p.Ala220=) n.752C>A n.743C>A | |
| 11 | g.46726007C= | CA1969072146 | F2 | c.708C= (p.Ala236=) c.678C= (p.Ala226=) n.488C= c.660C= (p.Ala220=) n.752C= n.743C= | |
| 11 | g.46726007C>G | CA474043727 | F2 | c.708C>G (p.Ala236=) c.678C>G (p.Ala226=) n.488C>G c.660C>G (p.Ala220=) n.752C>G n.743C>G | |
| 11 | g.46726007C>T | CA221652038 | F2 | c.708C>T (p.Ala236=) c.678C>T (p.Ala226=) n.488C>T c.660C>T (p.Ala220=) n.752C>T n.743C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726008T>A | CA380265121 | F2 | c.709T>A (p.Trp237Arg) c.679T>A (p.Trp227Arg) n.489T>A c.661T>A (p.Trp221Arg) n.753T>A n.744T>A | |
| 11 | g.46726008T>C | CA380265122 | F2 | c.709T>C (p.Trp237Arg) c.679T>C (p.Trp227Arg) n.489T>C c.661T>C (p.Trp221Arg) n.753T>C n.744T>C | |
| 11 | g.46726008T>G | CA380265123 | F2 | c.709T>G (p.Trp237Gly) c.679T>G (p.Trp227Gly) n.489T>G c.661T>G (p.Trp221Gly) n.753T>G n.744T>G | |
| 11 | g.46726009G>A | CA380265127 | F2 | c.710G>A (p.Trp237Ter) c.680G>A (p.Trp227Ter) n.490G>A c.662G>A (p.Trp221Ter) n.754G>A n.745G>A | |
| 11 | g.46726009G>C | CA380265129 | F2 | c.710G>C (p.Trp237Ser) c.680G>C (p.Trp227Ser) n.490G>C c.662G>C (p.Trp221Ser) n.754G>C n.745G>C | |
| 11 | g.46726009G>T | CA380265125 | F2 | c.710G>T (p.Trp237Leu) c.680G>T (p.Trp227Leu) n.490G>T c.662G>T (p.Trp221Leu) n.754G>T n.745G>T | |
| 11 | g.46726010G>A | CA380265135 | F2 | c.711G>A (p.Trp237Ter) c.681G>A (p.Trp227Ter) n.491G>A c.663G>A (p.Trp221Ter) n.755G>A n.746G>A | gnomAD v4 |
| 11 | g.46726010G>C | CA380265131 | F2 | c.711G>C (p.Trp237Cys) c.681G>C (p.Trp227Cys) n.491G>C c.663G>C (p.Trp221Cys) n.755G>C n.746G>C | |
| 11 | g.46726010G>T | CA380265132 | F2 | c.711G>T (p.Trp237Cys) c.681G>T (p.Trp227Cys) n.491G>T c.663G>T (p.Trp221Cys) n.755G>T n.746G>T | |
| 11 | g.46726011G>A | CA380265137 | F2 | c.712G>A (p.Ala238Thr) c.682G>A (p.Ala228Thr) n.492G>A c.664G>A (p.Ala222Thr) n.756G>A n.747G>A | |
| 11 | g.46726011G>C | CA380265139 | F2 | c.712G>C (p.Ala238Pro) c.682G>C (p.Ala228Pro) n.492G>C c.664G>C (p.Ala222Pro) n.756G>C n.747G>C | |
| 11 | g.46726011G= | CA1969072149 | F2 | c.712G= (p.Ala238=) c.682G= (p.Ala228=) n.492G= c.664G= (p.Ala222=) n.756G= n.747G= | |
| 11 | g.46726011G>T | CA380265140 | F2 | c.712G>T (p.Ala238Ser) c.682G>T (p.Ala228Ser) n.492G>T c.664G>T (p.Ala222Ser) n.756G>T n.747G>T | |
| 11 | g.46726012C>A | CA380265146 | F2 | c.713C>A (p.Ala238Asp) c.683C>A (p.Ala228Asp) n.493C>A c.665C>A (p.Ala222Asp) n.757C>A n.748C>A | |
| 11 | g.46726012C>G | CA380265144 | F2 | c.713C>G (p.Ala238Gly) c.683C>G (p.Ala228Gly) n.493C>G c.665C>G (p.Ala222Gly) n.757C>G n.748C>G | |
| 11 | g.46726012C>T | CA380265142 | F2 | c.713C>T (p.Ala238Val) c.683C>T (p.Ala228Val) n.493C>T c.665C>T (p.Ala222Val) n.757C>T n.748C>T | |
| 11 | g.46726013dup | CA599372386 | F2 | c.714dup (p.Ser239GlnfsTer?) c.684dup (p.Ser229GlnfsTer?) n.494dup c.666dup (p.Ser223GlnfsTer?) n.758dup n.749dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726013C>A | CA474043732 | F2 | c.714C>A (p.Ala238=) c.684C>A (p.Ala228=) n.494C>A c.666C>A (p.Ala222=) n.758C>A n.749C>A | |
| 11 | g.46726013C>G | CA474043734 | F2 | c.714C>G (p.Ala238=) c.684C>G (p.Ala228=) n.494C>G c.666C>G (p.Ala222=) n.758C>G n.749C>G | |
| 11 | g.46726013C>T | CA474043735 | F2 | c.714C>T (p.Ala238=) c.684C>T (p.Ala228=) n.494C>T c.666C>T (p.Ala222=) n.758C>T n.749C>T | |
| 11 | g.46726014A= | CA1969072154 | F2 | c.715A= (p.Ser239=) c.685A= (p.Ser229=) n.495A= c.667A= (p.Ser223=) n.759A= n.750A= | |
| 11 | g.46726014A>C | CA380265147 | F2 | c.715A>C (p.Ser239Arg) c.685A>C (p.Ser229Arg) n.495A>C c.667A>C (p.Ser223Arg) n.759A>C n.750A>C | |
| 11 | g.46726014A>G | CA5967042 | F2 | c.715A>G (p.Ser239Gly) c.685A>G (p.Ser229Gly) n.495A>G c.667A>G (p.Ser223Gly) n.759A>G n.750A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726014A>T | CA380265149 | F2 | c.715A>T (p.Ser239Cys) c.685A>T (p.Ser229Cys) n.495A>T c.667A>T (p.Ser223Cys) n.759A>T n.750A>T | |
| 11 | g.46726015G>A | CA5967043 | F2 | c.716G>A (p.Ser239Asn) c.686G>A (p.Ser229Asn) n.496G>A c.668G>A (p.Ser223Asn) n.760G>A n.751G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.46726015G>C | CA380265152 | F2 | c.716G>C (p.Ser239Thr) c.686G>C (p.Ser229Thr) n.496G>C c.668G>C (p.Ser223Thr) n.760G>C n.751G>C | |
| 11 | g.46726015G= | CA1969072159 | F2 | c.716G= (p.Ser239=) c.686G= (p.Ser229=) n.496G= c.668G= (p.Ser223=) n.760G= n.751G= | |
| 11 | g.46726015G>T | CA380265155 | F2 | c.716G>T (p.Ser239Ile) c.686G>T (p.Ser229Ile) n.496G>T c.668G>T (p.Ser223Ile) n.760G>T n.751G>T | |
| 11 | g.46726016C>A | CA380265158 | F2 | c.717C>A (p.Ser239Arg) c.687C>A (p.Ser229Arg) n.497C>A c.669C>A (p.Ser223Arg) n.761C>A n.752C>A | |
| 11 | g.46726016C= | CA1969072163 | F2 | c.717C= (p.Ser239=) c.687C= (p.Ser229=) n.497C= c.669C= (p.Ser223=) n.761C= n.752C= | |
| 11 | g.46726016C>G | CA380265160 | F2 | c.717C>G (p.Ser239Arg) c.687C>G (p.Ser229Arg) n.497C>G c.669C>G (p.Ser223Arg) n.761C>G n.752C>G | |
| 11 | g.46726016C>T | CA5967044 | F2 | c.717C>T (p.Ser239=) c.687C>T (p.Ser229=) n.497C>T c.669C>T (p.Ser223=) n.761C>T n.752C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726017G>A | CA5967045 | F2 | c.718G>A (p.Ala240Thr) c.688G>A (p.Ala230Thr) n.498G>A c.670G>A (p.Ala224Thr) n.762G>A n.753G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726017G>C | CA380265163 | F2 | c.718G>C (p.Ala240Pro) c.688G>C (p.Ala230Pro) n.498G>C c.670G>C (p.Ala224Pro) n.762G>C n.753G>C | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.46726017G= | CA1969072166 | F2 | c.718G= (p.Ala240=) c.688G= (p.Ala230=) n.498G= c.670G= (p.Ala224=) n.762G= n.753G= | |
| 11 | g.46726017G>T | CA380265166 | F2 | c.718G>T (p.Ala240Ser) c.688G>T (p.Ala230Ser) n.498G>T c.670G>T (p.Ala224Ser) n.762G>T n.753G>T | dbSNP COSMIC |
| 11 | g.46726018C>A | CA380265168 | F2 | c.719C>A (p.Ala240Glu) c.689C>A (p.Ala230Glu) n.499C>A c.671C>A (p.Ala224Glu) n.763C>A n.754C>A | |
| 11 | g.46726018C>G | CA380265170 | F2 | c.719C>G (p.Ala240Gly) c.689C>G (p.Ala230Gly) n.499C>G c.671C>G (p.Ala224Gly) n.763C>G n.754C>G | |
| 11 | g.46726018C>T | CA380265172 | F2 | c.719C>T (p.Ala240Val) c.689C>T (p.Ala230Val) n.499C>T c.671C>T (p.Ala224Val) n.763C>T n.754C>T | |
| 11 | g.46726019A= | CA1969072170 | F2 | c.720A= (p.Ala240=) c.690A= (p.Ala230=) n.500A= c.672A= (p.Ala224=) n.764A= n.755A= | |
| 11 | g.46726019A>C | CA221652051 | F2 | c.720A>C (p.Ala240=) c.690A>C (p.Ala230=) n.500A>C c.672A>C (p.Ala224=) n.764A>C n.755A>C | dbSNP |
| 11 | g.46726019A>G | CA474043738 | F2 | c.720A>G (p.Ala240=) c.690A>G (p.Ala230=) n.500A>G c.672A>G (p.Ala224=) n.764A>G n.755A>G | gnomAD v4 |
| 11 | g.46726019A>T | CA474043737 | F2 | c.720A>T (p.Ala240=) c.690A>T (p.Ala230=) n.500A>T c.672A>T (p.Ala224=) n.764A>T n.755A>T | |
| 11 | g.46726020C>A | CA380265176 | F2 | c.721C>A (p.Gln241Lys) c.691C>A (p.Gln231Lys) n.501C>A c.673C>A (p.Gln225Lys) n.765C>A n.756C>A | |
| 11 | g.46726020C>G | CA380265178 | F2 | c.721C>G (p.Gln241Glu) c.691C>G (p.Gln231Glu) n.501C>G c.673C>G (p.Gln225Glu) n.765C>G n.756C>G | |
| 11 | g.46726020C>T | CA380265179 | F2 | c.721C>T (p.Gln241Ter) c.691C>T (p.Gln231Ter) n.501C>T c.673C>T (p.Gln225Ter) n.765C>T n.756C>T | |
| 11 | g.46726021A= | CA1969072175 | F2 | c.722A= (p.Gln241=) c.692A= (p.Gln231=) n.502A= c.674A= (p.Gln225=) n.766A= n.757A= | |
| 11 | g.46726021A>C | CA380265181 | F2 | c.722A>C (p.Gln241Pro) c.692A>C (p.Gln231Pro) n.502A>C c.674A>C (p.Gln225Pro) n.766A>C n.757A>C | |
| 11 | g.46726021A>G | CA380265184 | F2 | c.722A>G (p.Gln241Arg) c.692A>G (p.Gln231Arg) n.502A>G c.674A>G (p.Gln225Arg) n.766A>G n.757A>G | dbSNP |
| 11 | g.46726021A>T | CA380265187 | F2 | c.722A>T (p.Gln241Leu) c.692A>T (p.Gln231Leu) n.502A>T c.674A>T (p.Gln225Leu) n.766A>T n.757A>T | |
| 11 | g.46726022G>A | CA474043739 | F2 | c.723G>A (p.Gln241=) c.693G>A (p.Gln231=) n.503G>A c.675G>A (p.Gln225=) n.767G>A n.758G>A | gnomAD v4 |
| 11 | g.46726022G>C | CA380265189 | F2 | c.723G>C (p.Gln241His) c.693G>C (p.Gln231His) n.503G>C c.675G>C (p.Gln225His) n.767G>C n.758G>C | |
| 11 | g.46726022G>T | CA380265191 | F2 | c.723G>T (p.Gln241His) c.693G>T (p.Gln231His) n.503G>T c.675G>T (p.Gln225His) n.767G>T n.758G>T | |
| 11 | g.46726023G>A | CA380265193 | F2 | c.724G>A (p.Ala242Thr) c.694G>A (p.Ala232Thr) n.504G>A c.676G>A (p.Ala226Thr) n.768G>A n.759G>A | |
| 11 | g.46726023G>C | CA380265196 | F2 | c.724G>C (p.Ala242Pro) c.694G>C (p.Ala232Pro) n.504G>C c.676G>C (p.Ala226Pro) n.768G>C n.759G>C | |
| 11 | g.46726023G>T | CA380265197 | F2 | c.724G>T (p.Ala242Ser) c.694G>T (p.Ala232Ser) n.504G>T c.676G>T (p.Ala226Ser) n.768G>T n.759G>T | |
| 11 | g.46726024C>A | CA380265200 | F2 | c.725C>A (p.Ala242Asp) c.695C>A (p.Ala232Asp) n.505C>A c.677C>A (p.Ala226Asp) n.769C>A n.760C>A | |
| 11 | g.46726024C>G | CA380265202 | F2 | c.725C>G (p.Ala242Gly) c.695C>G (p.Ala232Gly) n.505C>G c.677C>G (p.Ala226Gly) n.769C>G n.760C>G | |
| 11 | g.46726024C>T | CA380265203 | F2 | c.725C>T (p.Ala242Val) c.695C>T (p.Ala232Val) n.505C>T c.677C>T (p.Ala226Val) n.769C>T n.760C>T | |
| 11 | g.46726025C>A | CA474043740 | F2 | c.726C>A (p.Ala242=) c.696C>A (p.Ala232=) n.506C>A c.678C>A (p.Ala226=) n.770C>A n.761C>A | |
| 11 | g.46726025C>G | CA474043742 | F2 | c.726C>G (p.Ala242=) c.696C>G (p.Ala232=) n.506C>G c.678C>G (p.Ala226=) n.770C>G n.761C>G | |
| 11 | g.46726025C>T | CA474043741 | F2 | c.726C>T (p.Ala242=) c.696C>T (p.Ala232=) n.506C>T c.678C>T (p.Ala226=) n.770C>T n.761C>T | ClinVar gnomAD v4 |
| 11 | g.46726026A= | CA1969072177 | F2 | c.727A= (p.Lys243=) c.697A= (p.Lys233=) n.507A= c.679A= (p.Lys227=) n.771A= n.762A= | |
| 11 | g.46726026A>C | CA380265206 | F2 | c.727A>C (p.Lys243Gln) c.697A>C (p.Lys233Gln) n.507A>C c.679A>C (p.Lys227Gln) n.771A>C n.762A>C | |
| 11 | g.46726026A>G | CA380265204 | F2 | c.727A>G (p.Lys243Glu) c.697A>G (p.Lys233Glu) n.507A>G c.679A>G (p.Lys227Glu) n.771A>G n.762A>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.46726026A>T | CA380265205 | F2 | c.727A>T (p.Lys243Ter) c.697A>T (p.Lys233Ter) n.507A>T c.679A>T (p.Lys227Ter) n.771A>T n.762A>T | |
| 11 | g.46726027A>C | CA380265207 | F2 | c.728A>C (p.Lys243Thr) c.698A>C (p.Lys233Thr) n.508A>C c.680A>C (p.Lys227Thr) n.772A>C n.763A>C | |
| 11 | g.46726027A>G | CA380265210 | F2 | c.728A>G (p.Lys243Arg) c.698A>G (p.Lys233Arg) n.508A>G c.680A>G (p.Lys227Arg) n.772A>G n.763A>G | |
| 11 | g.46726027A>T | CA380265212 | F2 | c.728A>T (p.Lys243Met) c.698A>T (p.Lys233Met) n.508A>T c.680A>T (p.Lys227Met) n.772A>T n.763A>T | |
| 11 | g.46726028G>A | CA474043743 | F2 | c.729G>A (p.Lys243=) c.699G>A (p.Lys233=) n.509G>A c.681G>A (p.Lys227=) n.773G>A n.764G>A | |
| 11 | g.46726028G>C | CA380265214 | F2 | c.729G>C (p.Lys243Asn) c.699G>C (p.Lys233Asn) n.509G>C c.681G>C (p.Lys227Asn) n.773G>C n.764G>C | |
| 11 | g.46726028G>T | CA380265217 | F2 | c.729G>T (p.Lys243Asn) c.699G>T (p.Lys233Asn) n.509G>T c.681G>T (p.Lys227Asn) n.773G>T n.764G>T | |
| 11 | g.46726029G>A | CA380265223 | F2 | c.730G>A (p.Ala244Thr) c.700G>A (p.Ala234Thr) n.510G>A c.682G>A (p.Ala228Thr) n.774G>A n.765G>A | |
| 11 | g.46726029G>C | CA380265226 | F2 | c.730G>C (p.Ala244Pro) c.700G>C (p.Ala234Pro) n.510G>C c.682G>C (p.Ala228Pro) n.774G>C n.765G>C | dbSNP |
| 11 | g.46726029G= | CA1969072184 | F2 | c.730G= (p.Ala244=) c.700G= (p.Ala234=) n.510G= c.682G= (p.Ala228=) n.774G= n.765G= | |
| 11 | g.46726029G>T | CA10634977 | F2 | c.730G>T (p.Ala244Ser) c.700G>T (p.Ala234Ser) n.510G>T c.682G>T (p.Ala228Ser) n.774G>T n.765G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46726030C>A | CA380265228 | F2 | c.731C>A (p.Ala244Asp) c.701C>A (p.Ala234Asp) n.511C>A c.683C>A (p.Ala228Asp) n.775C>A n.766C>A | |
| 11 | g.46726030C>G | CA380265230 | F2 | c.731C>G (p.Ala244Gly) c.701C>G (p.Ala234Gly) n.511C>G c.683C>G (p.Ala228Gly) n.775C>G n.766C>G | |
| 11 | g.46726030C>T | CA380265232 | F2 | c.731C>T (p.Ala244Val) c.701C>T (p.Ala234Val) n.511C>T c.683C>T (p.Ala228Val) n.775C>T n.766C>T | gnomAD v4 |
| 11 | g.46726031C>A | CA474043744 | F2 | c.732C>A (p.Ala244=) c.702C>A (p.Ala234=) n.512C>A c.684C>A (p.Ala228=) n.776C>A n.767C>A | |
| 11 | g.46726031C>G | CA474043745 | F2 | c.732C>G (p.Ala244=) c.702C>G (p.Ala234=) n.512C>G c.684C>G (p.Ala228=) n.776C>G n.767C>G | |
| 11 | g.46726031C>T | CA474043746 | F2 | c.732C>T (p.Ala244=) c.702C>T (p.Ala234=) n.512C>T c.684C>T (p.Ala228=) n.776C>T n.767C>T | |
| 11 | g.46726032C>A | CA380265234 | F2 | c.733C>A (p.Leu245Met) c.703C>A (p.Leu235Met) n.513C>A c.685C>A (p.Leu229Met) n.777C>A n.768C>A | |
| 11 | g.46726032C= | CA1969072191 | F2 | c.733C= (p.Leu245=) c.703C= (p.Leu235=) n.513C= c.685C= (p.Leu229=) n.777C= n.768C= | |
| 11 | g.46726032C>G | CA221652052 | F2 | c.733C>G (p.Leu245Val) c.703C>G (p.Leu235Val) n.513C>G c.685C>G (p.Leu229Val) n.777C>G n.768C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726032C>T | CA474043747 | F2 | c.733C>T (p.Leu245=) c.703C>T (p.Leu235=) n.513C>T c.685C>T (p.Leu229=) n.777C>T n.768C>T | |
| 11 | g.46726032_46726033delinsCT | CA1969072190 | F2 | c.733_734delinsCT (p.Leu245=) c.703_704delinsCT (p.Leu235=) n.513_514delinsCT c.685_686delinsCT (p.Leu229=) n.777_778delinsCT n.768_769delinsCT | |
| 11 | g.46726033del | CA174094 | F2 | c.734del (p.Leu245ArgfsTer?) c.704del (p.Leu235ArgfsTer?) n.514del c.686del (p.Leu229ArgfsTer?) n.778del n.769del | ClinVar dbSNP COSMIC |
| 11 | g.46726033T>A | CA380265238 | F2 | c.734T>A (p.Leu245Gln) c.704T>A (p.Leu235Gln) n.514T>A c.686T>A (p.Leu229Gln) n.778T>A n.769T>A | |
| 11 | g.46726033T>C | CA5967046 | F2 | c.734T>C (p.Leu245Pro) c.704T>C (p.Leu235Pro) n.514T>C c.686T>C (p.Leu229Pro) n.778T>C n.769T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726033T>G | CA380265241 | F2 | c.734T>G (p.Leu245Arg) c.704T>G (p.Leu235Arg) n.514T>G c.686T>G (p.Leu229Arg) n.778T>G n.769T>G | dbSNP |
| 11 | g.46726033T= | CA1969072194 | F2 | c.734T= (p.Leu245=) c.704T= (p.Leu235=) n.514T= c.686T= (p.Leu229=) n.778T= n.769T= | |
| 11 | g.46726034G>A | CA474043748 | F2 | c.735G>A (p.Leu245=) c.705G>A (p.Leu235=) n.515G>A c.687G>A (p.Leu229=) n.779G>A n.770G>A | |
| 11 | g.46726034G>C | CA474043749 | F2 | c.735G>C (p.Leu245=) c.705G>C (p.Leu235=) n.515G>C c.687G>C (p.Leu229=) n.779G>C n.770G>C | |
| 11 | g.46726034G>T | CA474043750 | F2 | c.735G>T (p.Leu245=) c.705G>T (p.Leu235=) n.515G>T c.687G>T (p.Leu229=) n.779G>T n.770G>T | |
| 11 | g.46726035A>C | CA380265245 | F2 | c.736A>C (p.Ser246Arg) c.706A>C (p.Ser236Arg) n.516A>C c.688A>C (p.Ser230Arg) n.780A>C n.771A>C | |
| 11 | g.46726035A>G | CA380265247 | F2 | c.736A>G (p.Ser246Gly) c.706A>G (p.Ser236Gly) n.516A>G c.688A>G (p.Ser230Gly) n.780A>G n.771A>G | |
| 11 | g.46726035A>T | CA380265248 | F2 | c.736A>T (p.Ser246Cys) c.706A>T (p.Ser236Cys) n.516A>T c.688A>T (p.Ser230Cys) n.780A>T n.771A>T | |
| 11 | g.46726036G>A | CA380265253 | F2 | c.737G>A (p.Ser246Asn) c.707G>A (p.Ser236Asn) n.517G>A c.689G>A (p.Ser230Asn) n.781G>A n.772G>A | gnomAD v4 |
| 11 | g.46726036G>C | CA380265255 | F2 | c.737G>C (p.Ser246Thr) c.707G>C (p.Ser236Thr) n.517G>C c.689G>C (p.Ser230Thr) n.781G>C n.772G>C | |
| 11 | g.46726036G>T | CA380265252 | F2 | c.737G>T (p.Ser246Ile) c.707G>T (p.Ser236Ile) n.517G>T c.689G>T (p.Ser230Ile) n.781G>T n.772G>T | |
| 11 | g.46726037C>A | CA380265257 | F2 | c.738C>A (p.Ser246Arg) c.708C>A (p.Ser236Arg) n.518C>A c.690C>A (p.Ser230Arg) n.782C>A n.773C>A | |
| 11 | g.46726037C>G | CA380265259 | F2 | c.738C>G (p.Ser246Arg) c.708C>G (p.Ser236Arg) n.518C>G c.690C>G (p.Ser230Arg) n.782C>G n.773C>G | |
| 11 | g.46726037C>T | CA474043751 | F2 | c.738C>T (p.Ser246=) c.708C>T (p.Ser236=) n.518C>T c.690C>T (p.Ser230=) n.782C>T n.773C>T | |
| 11 | g.46726038A>C | CA380265262 | F2 | c.739A>C (p.Lys247Gln) c.709A>C (p.Lys237Gln) n.519A>C c.691A>C (p.Lys231Gln) n.783A>C n.774A>C | |
| 11 | g.46726038A>G | CA380265264 | F2 | c.739A>G (p.Lys247Glu) c.709A>G (p.Lys237Glu) n.519A>G c.691A>G (p.Lys231Glu) n.783A>G n.774A>G | gnomAD v4 |
| 11 | g.46726038A>T | CA380265266 | F2 | c.739A>T (p.Lys247Ter) c.709A>T (p.Lys237Ter) n.519A>T c.691A>T (p.Lys231Ter) n.783A>T n.774A>T | |
| 11 | g.46726039A>C | CA380265268 | F2 | c.740A>C (p.Lys247Thr) c.710A>C (p.Lys237Thr) n.520A>C c.692A>C (p.Lys231Thr) n.784A>C n.775A>C | |
| 11 | g.46726039A>G | CA380265270 | F2 | c.740A>G (p.Lys247Arg) c.710A>G (p.Lys237Arg) n.520A>G c.692A>G (p.Lys231Arg) n.784A>G n.775A>G | |
| 11 | g.46726039A>T | CA380265273 | F2 | c.740A>T (p.Lys247Met) c.710A>T (p.Lys237Met) n.520A>T c.692A>T (p.Lys231Met) n.784A>T n.775A>T | |
| 11 | g.46726040G>A | CA474043752 | F2 | c.741G>A (p.Lys247=) c.711G>A (p.Lys237=) n.521G>A c.693G>A (p.Lys231=) n.785G>A n.776G>A | |
| 11 | g.46726040G>C | CA380265274 | F2 | c.741G>C (p.Lys247Asn) c.711G>C (p.Lys237Asn) n.521G>C c.693G>C (p.Lys231Asn) n.785G>C n.776G>C | gnomAD v4 |
| 11 | g.46726040G>T | CA380265276 | F2 | c.741G>T (p.Lys247Asn) c.711G>T (p.Lys237Asn) n.521G>T c.693G>T (p.Lys231Asn) n.785G>T n.776G>T | |
| 11 | g.46726041C>A | CA380265277 | F2 | c.742C>A (p.His248Asn) c.712C>A (p.His238Asn) n.522C>A c.694C>A (p.His232Asn) n.786C>A n.777C>A | |
| 11 | g.46726041C>G | CA380265279 | F2 | c.742C>G (p.His248Asp) c.712C>G (p.His238Asp) n.522C>G c.694C>G (p.His232Asp) n.786C>G n.777C>G | gnomAD v4 |
| 11 | g.46726041C>T | CA380265281 | F2 | c.742C>T (p.His248Tyr) c.712C>T (p.His238Tyr) n.522C>T c.694C>T (p.His232Tyr) n.786C>T n.777C>T | |
| 11 | g.46726042A= | CA1969072197 | F2 | c.743A= (p.His248=) c.713A= (p.His238=) n.523A= c.695A= (p.His232=) n.787A= n.778A= | |
| 11 | g.46726042A>C | CA380265286 | F2 | c.743A>C (p.His248Pro) c.713A>C (p.His238Pro) n.523A>C c.695A>C (p.His232Pro) n.787A>C n.778A>C | |
| 11 | g.46726042A>G | CA380265285 | F2 | c.743A>G (p.His248Arg) c.713A>G (p.His238Arg) n.523A>G c.695A>G (p.His232Arg) n.787A>G n.778A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46726042A>T | CA380265282 | F2 | c.743A>T (p.His248Leu) c.713A>T (p.His238Leu) n.523A>T c.695A>T (p.His232Leu) n.787A>T n.778A>T | |
| 11 | g.46726043C>A | CA380265288 | F2 | c.744C>A (p.His248Gln) c.714C>A (p.His238Gln) n.524C>A c.696C>A (p.His232Gln) n.788C>A n.779C>A | |
| 11 | g.46726043C>G | CA380265290 | F2 | c.744C>G (p.His248Gln) c.714C>G (p.His238Gln) n.524C>G c.696C>G (p.His232Gln) n.788C>G n.779C>G | |
| 11 | g.46726043C>T | CA474043753 | F2 | c.744C>T (p.His248=) c.714C>T (p.His238=) n.524C>T c.696C>T (p.His232=) n.788C>T n.779C>T | |
| 11 | g.46726044C>A | CA380265293 | F2 | c.745C>A (p.Gln249Lys) c.715C>A (p.Gln239Lys) n.525C>A c.697C>A (p.Gln233Lys) n.789C>A n.780C>A | |
| 11 | g.46726044C>G | CA380265294 | F2 | c.745C>G (p.Gln249Glu) c.715C>G (p.Gln239Glu) n.525C>G c.697C>G (p.Gln233Glu) n.789C>G n.780C>G | |
| 11 | g.46726044C>T | CA380265297 | F2 | c.745C>T (p.Gln249Ter) c.715C>T (p.Gln239Ter) n.525C>T c.697C>T (p.Gln233Ter) n.789C>T n.780C>T | |
| 11 | g.46726045A>C | CA380265298 | F2 | c.746A>C (p.Gln249Pro) c.716A>C (p.Gln239Pro) n.526A>C c.698A>C (p.Gln233Pro) n.790A>C n.781A>C | |
| 11 | g.46726045A>G | CA380265302 | F2 | c.746A>G (p.Gln249Arg) c.716A>G (p.Gln239Arg) n.526A>G c.698A>G (p.Gln233Arg) n.790A>G n.781A>G | gnomAD v4 |
| 11 | g.46726045A>T | CA380265303 | F2 | c.746A>T (p.Gln249Leu) c.716A>T (p.Gln239Leu) n.526A>T c.698A>T (p.Gln233Leu) n.790A>T n.781A>T | |
| 11 | g.46726046G>A | CA474043754 | F2 | c.747G>A (p.Gln249=) c.717G>A (p.Gln239=) n.527G>A c.699G>A (p.Gln233=) n.791G>A n.782G>A | |
| 11 | g.46726046G>C | CA380265304 | F2 | c.747G>C (p.Gln249His) c.717G>C (p.Gln239His) n.527G>C c.699G>C (p.Gln233His) n.791G>C n.782G>C | gnomAD v4 |
| 11 | g.46726046G>T | CA380265306 | F2 | c.747G>T (p.Gln249His) c.717G>T (p.Gln239His) n.527G>T c.699G>T (p.Gln233His) n.791G>T n.782G>T | |
| 11 | g.46726047G>A | CA380265308 | F2 | c.748G>A (p.Asp250Asn) c.718G>A (p.Asp240Asn) n.528G>A c.700G>A (p.Asp234Asn) n.792G>A n.783G>A | |
| 11 | g.46726047G>C | CA380265310 | F2 | c.748G>C (p.Asp250His) c.718G>C (p.Asp240His) n.528G>C c.700G>C (p.Asp234His) n.792G>C n.783G>C | |
| 11 | g.46726047G>T | CA380265312 | F2 | c.748G>T (p.Asp250Tyr) c.718G>T (p.Asp240Tyr) n.528G>T c.700G>T (p.Asp234Tyr) n.792G>T n.783G>T | |
| 11 | g.46726048A>C | CA380265318 | F2 | c.749A>C (p.Asp250Ala) c.719A>C (p.Asp240Ala) n.529A>C c.701A>C (p.Asp234Ala) n.793A>C n.784A>C | |
| 11 | g.46726048A>G | CA380265316 | F2 | c.749A>G (p.Asp250Gly) c.719A>G (p.Asp240Gly) n.529A>G c.701A>G (p.Asp234Gly) n.793A>G n.784A>G | gnomAD v4 |
| 11 | g.46726048A>T | CA380265315 | F2 | c.749A>T (p.Asp250Val) c.719A>T (p.Asp240Val) n.529A>T c.701A>T (p.Asp234Val) n.793A>T n.784A>T | |
| 11 | g.46726049C>A | CA380265323 | F2 | c.750C>A (p.Asp250Glu) c.720C>A (p.Asp240Glu) n.530C>A c.702C>A (p.Asp234Glu) n.794C>A n.785C>A | |
| 11 | g.46726049C>G | CA380265320 | F2 | c.750C>G (p.Asp250Glu) c.720C>G (p.Asp240Glu) n.530C>G c.702C>G (p.Asp234Glu) n.794C>G n.785C>G | |
| 11 | g.46726049C>T | CA474043755 | F2 | c.750C>T (p.Asp250=) c.720C>T (p.Asp240=) n.530C>T c.702C>T (p.Asp234=) n.794C>T n.785C>T | |
| 11 | g.46726050T>A | CA380265326 | F2 | c.751T>A (p.Phe251Ile) c.721T>A (p.Phe241Ile) n.531T>A c.703T>A (p.Phe235Ile) n.795T>A n.786T>A | |
| 11 | g.46726050T>C | CA380265327 | F2 | c.751T>C (p.Phe251Leu) c.721T>C (p.Phe241Leu) n.531T>C c.703T>C (p.Phe235Leu) n.795T>C n.786T>C | |
| 11 | g.46726050T>G | CA380265328 | F2 | c.751T>G (p.Phe251Val) c.721T>G (p.Phe241Val) n.531T>G c.703T>G (p.Phe235Val) n.795T>G n.786T>G | |
| 11 | g.46726051T>A | CA380265331 | F2 | c.752T>A (p.Phe251Tyr) c.722T>A (p.Phe241Tyr) n.532T>A c.704T>A (p.Phe235Tyr) n.796T>A n.787T>A | gnomAD v4 |
| 11 | g.46726051T>C | CA380265334 | F2 | c.752T>C (p.Phe251Ser) c.722T>C (p.Phe241Ser) n.532T>C c.704T>C (p.Phe235Ser) n.796T>C n.787T>C | |
| 11 | g.46726051T>G | CA380265335 | F2 | c.752T>G (p.Phe251Cys) c.722T>G (p.Phe241Cys) n.532T>G c.704T>G (p.Phe235Cys) n.796T>G n.787T>G | |
| 11 | g.46726052C>A | CA380265337 | F2 | c.753C>A (p.Phe251Leu) c.723C>A (p.Phe241Leu) n.533C>A c.705C>A (p.Phe235Leu) n.797C>A n.788C>A | |
| 11 | g.46726052C>G | CA380265340 | F2 | c.753C>G (p.Phe251Leu) c.723C>G (p.Phe241Leu) n.533C>G c.705C>G (p.Phe235Leu) n.797C>G n.788C>G | |
| 11 | g.46726052C>T | CA474043756 | F2 | c.753C>T (p.Phe251=) c.723C>T (p.Phe241=) n.533C>T c.705C>T (p.Phe235=) n.797C>T n.788C>T | |
| 11 | g.46726053A= | CA1969072199 | F2 | c.754A= (p.Asn252=) c.724A= (p.Asn242=) n.534A= c.706A= (p.Asn236=) n.798A= n.789A= | |
| 11 | g.46726053A>C | CA380265344 | F2 | c.754A>C (p.Asn252His) c.724A>C (p.Asn242His) n.534A>C c.706A>C (p.Asn236His) n.798A>C n.789A>C | dbSNP gnomAD v4 |
| 11 | g.46726053A>G | CA380265345 | F2 | c.754A>G (p.Asn252Asp) c.724A>G (p.Asn242Asp) n.534A>G c.706A>G (p.Asn236Asp) n.798A>G n.789A>G | |
| 11 | g.46726053A>T | CA380265346 | F2 | c.754A>T (p.Asn252Tyr) c.724A>T (p.Asn242Tyr) n.534A>T c.706A>T (p.Asn236Tyr) n.798A>T n.789A>T | |
| 11 | g.46726054A= | CA1969072201 | F2 | c.755A= (p.Asn252=) c.725A= (p.Asn242=) n.535A= c.707A= (p.Asn236=) n.799A= n.790A= | |
| 11 | g.46726054A>C | CA221652057 | F2 | c.755A>C (p.Asn252Thr) c.725A>C (p.Asn242Thr) n.535A>C c.707A>C (p.Asn236Thr) n.799A>C n.790A>C | dbSNP gnomAD v4 |
| 11 | g.46726054A>G | CA380265352 | F2 | c.755A>G (p.Asn252Ser) c.725A>G (p.Asn242Ser) n.535A>G c.707A>G (p.Asn236Ser) n.799A>G n.790A>G | COSMIC |
| 11 | g.46726054A>T | CA380265349 | F2 | c.755A>T (p.Asn252Ile) c.725A>T (p.Asn242Ile) n.535A>T c.707A>T (p.Asn236Ile) n.799A>T n.790A>T | |
| 11 | g.46726055C>A | CA380265355 | F2 | c.756C>A (p.Asn252Lys) c.726C>A (p.Asn242Lys) n.536C>A c.708C>A (p.Asn236Lys) n.800C>A n.791C>A | |
| 11 | g.46726055C>G | CA380265357 | F2 | c.756C>G (p.Asn252Lys) c.726C>G (p.Asn242Lys) n.536C>G c.708C>G (p.Asn236Lys) n.800C>G n.791C>G | |
| 11 | g.46726055C>T | CA474043757 | F2 | c.756C>T (p.Asn252=) c.726C>T (p.Asn242=) n.536C>T c.708C>T (p.Asn236=) n.800C>T n.791C>T | |
| 11 | g.46726056T>A | CA380265360 | F2 | c.757T>A (p.Ser253Thr) c.727T>A (p.Ser243Thr) n.537T>A c.709T>A (p.Ser237Thr) n.801T>A n.792T>A | |
| 11 | g.46726056T>C | CA380265361 | F2 | c.757T>C (p.Ser253Pro) c.727T>C (p.Ser243Pro) n.537T>C c.709T>C (p.Ser237Pro) n.801T>C n.792T>C | |
| 11 | g.46726056T>G | CA380265364 | F2 | c.757T>G (p.Ser253Ala) c.727T>G (p.Ser243Ala) n.537T>G c.709T>G (p.Ser237Ala) n.801T>G n.792T>G | |
| 11 | g.46726057C>A | CA380265368 | F2 | c.758C>A (p.Ser253Ter) c.728C>A (p.Ser243Ter) n.538C>A c.710C>A (p.Ser237Ter) n.802C>A n.793C>A | |
| 11 | g.46726057C>G | CA380265365 | F2 | c.758C>G (p.Ser253Ter) c.728C>G (p.Ser243Ter) n.538C>G c.710C>G (p.Ser237Ter) n.802C>G n.793C>G | |
| 11 | g.46726057C>T | CA380265366 | F2 | c.758C>T (p.Ser253Leu) c.728C>T (p.Ser243Leu) n.538C>T c.710C>T (p.Ser237Leu) n.802C>T n.793C>T | |
| 11 | g.46726058A= | CA1969072203 | F2 | c.759A= (p.Ser253=) c.729A= (p.Ser243=) n.539A= c.711A= (p.Ser237=) n.803A= n.794A= | |
| 11 | g.46726058A>C | CA474043758 | F2 | c.759A>C (p.Ser253=) c.729A>C (p.Ser243=) n.539A>C c.711A>C (p.Ser237=) n.803A>C n.794A>C | |
| 11 | g.46726058A>G | CA474043759 | F2 | c.759A>G (p.Ser253=) c.729A>G (p.Ser243=) n.539A>G c.711A>G (p.Ser237=) n.803A>G n.794A>G | |
| 11 | g.46726058A>T | CA221652058 | F2 | c.759A>T (p.Ser253=) c.729A>T (p.Ser243=) n.539A>T c.711A>T (p.Ser237=) n.803A>T n.794A>T | dbSNP gnomAD v4 |
| 11 | g.46726059G>A | CA380265372 | F2 | c.760G>A (p.Ala254Thr) c.730G>A (p.Ala244Thr) n.540G>A c.712G>A (p.Ala238Thr) n.804G>A n.795G>A | |
| 11 | g.46726059G>C | CA380265378 | F2 | c.760G>C (p.Ala254Pro) c.730G>C (p.Ala244Pro) n.540G>C c.712G>C (p.Ala238Pro) n.804G>C n.795G>C | gnomAD v4 |
| 11 | g.46726059G>T | CA380265380 | F2 | c.760G>T (p.Ala254Ser) c.730G>T (p.Ala244Ser) n.540G>T c.712G>T (p.Ala238Ser) n.804G>T n.795G>T | |
| 11 | g.46726060C>A | CA380265381 | F2 | c.761C>A (p.Ala254Asp) c.731C>A (p.Ala244Asp) n.541C>A c.713C>A (p.Ala238Asp) n.805C>A n.796C>A | |
| 11 | g.46726060C>G | CA380265385 | F2 | c.761C>G (p.Ala254Gly) c.731C>G (p.Ala244Gly) n.541C>G c.713C>G (p.Ala238Gly) n.805C>G n.796C>G | |
| 11 | g.46726060C>T | CA380265386 | F2 | c.761C>T (p.Ala254Val) c.731C>T (p.Ala244Val) n.541C>T c.713C>T (p.Ala238Val) n.805C>T n.796C>T | |
| 11 | g.46726061T>A | CA474043760 | F2 | c.762T>A (p.Ala254=) c.732T>A (p.Ala244=) n.542T>A c.714T>A (p.Ala238=) n.806T>A n.797T>A | |
| 11 | g.46726061T>C | CA474043761 | F2 | c.762T>C (p.Ala254=) c.732T>C (p.Ala244=) n.542T>C c.714T>C (p.Ala238=) n.806T>C n.797T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.46726061T>G | CA474043762 | F2 | c.762T>G (p.Ala254=) c.732T>G (p.Ala244=) n.542T>G c.714T>G (p.Ala238=) n.806T>G n.797T>G | |
| 11 | g.46726062G>A | CA5967047 | F2 | c.763G>A (p.Val255Met) c.733G>A (p.Val245Met) n.543G>A c.715G>A (p.Val239Met) n.807G>A n.798G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.46726062G>C | CA221652069 | F2 | c.763G>C (p.Val255Leu) c.733G>C (p.Val245Leu) n.543G>C c.715G>C (p.Val239Leu) n.807G>C n.798G>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46726062G= | CA1969072205 | F2 | c.763G= (p.Val255=) c.733G= (p.Val245=) n.543G= c.715G= (p.Val239=) n.807G= n.798G= | |
| 11 | g.46726062G>T | CA380265387 | F2 | c.763G>T (p.Val255Leu) c.733G>T (p.Val245Leu) n.543G>T c.715G>T (p.Val239Leu) n.807G>T n.798G>T | |
| 11 | g.46726063T>A | CA380265396 | F2 | c.764T>A (p.Val255Glu) c.734T>A (p.Val245Glu) n.544T>A c.716T>A (p.Val239Glu) n.808T>A n.799T>A | |
| 11 | g.46726063T>C | CA380265400 | F2 | c.764T>C (p.Val255Ala) c.734T>C (p.Val245Ala) n.544T>C c.716T>C (p.Val239Ala) n.808T>C n.799T>C | |
| 11 | g.46726063T>G | CA380265403 | F2 | c.764T>G (p.Val255Gly) c.734T>G (p.Val245Gly) n.544T>G c.716T>G (p.Val239Gly) n.808T>G n.799T>G | |
| 11 | g.46726064G>A | CA474043763 | F2 | c.765G>A (p.Val255=) c.735G>A (p.Val245=) n.545G>A c.717G>A (p.Val239=) n.809G>A n.800G>A | |
| 11 | g.46726064G>C | CA474043764 | F2 | c.765G>C (p.Val255=) c.735G>C (p.Val245=) n.545G>C c.717G>C (p.Val239=) n.809G>C n.800G>C | |
| 11 | g.46726064G>T | CA474043765 | F2 | c.765G>T (p.Val255=) c.735G>T (p.Val245=) n.545G>T c.717G>T (p.Val239=) n.809G>T n.800G>T | |
| 11 | g.46726065C>A | CA380265408 | F2 | c.766C>A (p.Gln256Lys) c.736C>A (p.Gln246Lys) c.718C>A (p.Gln240Lys) n.810C>A n.801C>A | |
| 11 | g.46726065C>G | CA380265411 | F2 | c.766C>G (p.Gln256Glu) c.736C>G (p.Gln246Glu) c.718C>G (p.Gln240Glu) n.810C>G n.801C>G | |
| 11 | g.46726065C>T | CA380265414 | F2 | c.766C>T (p.Gln256Ter) c.736C>T (p.Gln246Ter) c.718C>T (p.Gln240Ter) n.810C>T n.801C>T | |
| 11 | g.46726066A>C | CA380265415 | F2 | c.767A>C (p.Gln256Pro) c.737A>C (p.Gln246Pro) c.719A>C (p.Gln240Pro) n.811A>C n.802A>C | |
| 11 | g.46726066A>G | CA380265417 | F2 | c.767A>G (p.Gln256Arg) c.737A>G (p.Gln246Arg) c.719A>G (p.Gln240Arg) n.811A>G n.802A>G | |
| 11 | g.46726066A>T | CA380265418 | F2 | c.767A>T (p.Gln256Leu) c.737A>T (p.Gln246Leu) c.719A>T (p.Gln240Leu) n.811A>T n.802A>T | |
| 11 | g.46726067G>A | CA474043766 | F2 | c.768G>A (p.Gln256=) c.738G>A (p.Gln246=) c.720G>A (p.Gln240=) n.812G>A n.803G>A | gnomAD v4 |
| 11 | g.46726067G>C | CA380265421 | F2 | c.768G>C (p.Gln256His) c.738G>C (p.Gln246His) c.720G>C (p.Gln240His) n.812G>C n.803G>C | gnomAD v4 |
| 11 | g.46726067G>T | CA380265424 | F2 | c.768G>T (p.Gln256His) c.738G>T (p.Gln246His) c.720G>T (p.Gln240His) n.812G>T n.803G>T | |
| 11 | g.46726068C>A | CA380265427 | F2 | c.769C>A (p.Leu257Met) c.739C>A (p.Leu247Met) c.721C>A (p.Leu241Met) n.813C>A n.804C>A | |
| 11 | g.46726068C>G | CA380265430 | F2 | c.769C>G (p.Leu257Val) c.739C>G (p.Leu247Val) c.721C>G (p.Leu241Val) n.813C>G n.804C>G | gnomAD v4 |
| 11 | g.46726068C>T | CA474043767 | F2 | c.769C>T (p.Leu257=) c.739C>T (p.Leu247=) c.721C>T (p.Leu241=) n.813C>T n.804C>T | |
| 11 | g.46726069T>A | CA380265439 | F2 | c.770T>A (p.Leu257Gln) c.740T>A (p.Leu247Gln) c.722T>A (p.Leu241Gln) n.814T>A n.805T>A | dbSNP |
| 11 | g.46726069T>C | CA380265437 | F2 | c.770T>C (p.Leu257Pro) c.740T>C (p.Leu247Pro) c.722T>C (p.Leu241Pro) n.814T>C n.805T>C | gnomAD v4 |
| 11 | g.46726069T>G | CA380265433 | F2 | c.770T>G (p.Leu257Arg) c.740T>G (p.Leu247Arg) c.722T>G (p.Leu241Arg) n.814T>G n.805T>G | |
| 11 | g.46726069T= | CA1969072207 | F2 | c.770T= (p.Leu257=) c.740T= (p.Leu247=) c.722T= (p.Leu241=) n.814T= n.805T= | |
| 11 | g.46726070G>A | CA474043768 | F2 | c.771G>A (p.Leu257=) c.741G>A (p.Leu247=) c.723G>A (p.Leu241=) n.815G>A n.806G>A | |
| 11 | g.46726070G>C | CA474043769 | F2 | c.771G>C (p.Leu257=) c.741G>C (p.Leu247=) c.723G>C (p.Leu241=) n.815G>C n.806G>C | |
| 11 | g.46726070G>T | CA474043770 | F2 | c.771G>T (p.Leu257=) c.741G>T (p.Leu247=) c.723G>T (p.Leu241=) n.815G>T n.806G>T | |
| 11 | g.46726071G>A | CA5967048 | F2 | c.772G>A (p.Val258Met) c.742G>A (p.Val248Met) c.724G>A (p.Val242Met) n.816G>A n.807G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.46726071G>C | CA380265443 | F2 | c.772G>C (p.Val258Leu) c.742G>C (p.Val248Leu) c.724G>C (p.Val242Leu) n.816G>C n.807G>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46726071G= | CA1969072209 | F2 | c.772G= (p.Val258=) c.742G= (p.Val248=) c.724G= (p.Val242=) n.816G= n.807G= | |
| 11 | g.46726071G>T | CA380265445 | F2 | c.772G>T (p.Val258Leu) c.742G>T (p.Val248Leu) c.724G>T (p.Val242Leu) n.816G>T n.807G>T | |
| 11 | g.46726072T>A | CA380265447 | F2 | c.773T>A (p.Val258Glu) c.743T>A (p.Val248Glu) c.725T>A (p.Val242Glu) n.817T>A n.808T>A | |
| 11 | g.46726072T>C | CA380265448 | F2 | c.773T>C (p.Val258Ala) c.743T>C (p.Val248Ala) c.725T>C (p.Val242Ala) n.817T>C n.808T>C | gnomAD v4 |
| 11 | g.46726072T>G | CA380265451 | F2 | c.773T>G (p.Val258Gly) c.743T>G (p.Val248Gly) c.725T>G (p.Val242Gly) n.817T>G n.808T>G | |
| 11 | g.46726073G>A | CA474043771 | F2 | c.774G>A (p.Val258=) c.744G>A (p.Val248=) c.726G>A (p.Val242=) n.818G>A n.809G>A | |
| 11 | g.46726073G>C | CA474043772 | F2 | c.774G>C (p.Val258=) c.744G>C (p.Val248=) c.726G>C (p.Val242=) n.818G>C n.809G>C | |
| 11 | g.46726073G>T | CA474043773 | F2 | c.774G>T (p.Val258=) c.744G>T (p.Val248=) c.726G>T (p.Val242=) n.818G>T n.809G>T | |
| 11 | g.46726074G>A | CA380265455 | F2 | c.775G>A (p.Glu259Lys) c.745G>A (p.Glu249Lys) c.727G>A (p.Glu243Lys) n.819G>A n.810G>A | |
| 11 | g.46726074G>C | CA380265456 | F2 | c.775G>C (p.Glu259Gln) c.745G>C (p.Glu249Gln) c.727G>C (p.Glu243Gln) n.819G>C n.810G>C | |
| 11 | g.46726074G>T | CA380265457 | F2 | c.775G>T (p.Glu259Ter) c.745G>T (p.Glu249Ter) c.727G>T (p.Glu243Ter) n.819G>T n.810G>T | |
| 11 | g.46726075A= | CA1969072211 | F2 | c.776A= (p.Glu259=) c.746A= (p.Glu249=) c.728A= (p.Glu243=) n.820A= n.811A= | |
| 11 | g.46726075A>C | CA380265458 | F2 | c.776A>C (p.Glu259Ala) c.746A>C (p.Glu249Ala) c.728A>C (p.Glu243Ala) n.820A>C n.811A>C | |
| 11 | g.46726075A>G | CA380265459 | F2 | c.776A>G (p.Glu259Gly) c.746A>G (p.Glu249Gly) c.728A>G (p.Glu243Gly) n.820A>G n.811A>G | dbSNP |
| 11 | g.46726075A>T | CA380265461 | F2 | c.776A>T (p.Glu259Val) c.746A>T (p.Glu249Val) c.728A>T (p.Glu243Val) n.820A>T n.811A>T | |
| 11 | g.46726076G>A | CA474043774 | F2 | c.777G>A (p.Glu259=) c.747G>A (p.Glu249=) c.729G>A (p.Glu243=) n.821G>A n.812G>A | dbSNP |
| 11 | g.46726076G>C | CA380265464 | F2 | c.777G>C (p.Glu259Asp) c.747G>C (p.Glu249Asp) c.729G>C (p.Glu243Asp) n.821G>C n.812G>C | |
| 11 | g.46726076G= | CA1969072213 | F2 | c.777G= (p.Glu259=) c.747G= (p.Glu249=) c.729G= (p.Glu243=) n.821G= n.812G= | |
| 11 | g.46726076G>T | CA380265468 | F2 | c.777G>T (p.Glu259Asp) c.747G>T (p.Glu249Asp) c.729G>T (p.Glu243Asp) n.821G>T n.812G>T | gnomAD v4 |
| 11 | g.46726077A= | CA1969072215 | F2 | c.778A= (p.Asn260=) c.748A= (p.Asn250=) c.730A= (p.Asn244=) n.822A= n.813A= | |
| 11 | g.46726077A>C | CA380265471 | F2 | c.778A>C (p.Asn260His) c.748A>C (p.Asn250His) c.730A>C (p.Asn244His) n.822A>C n.813A>C | gnomAD v4 |
| 11 | g.46726077A>G | CA5967049 | F2 | c.778A>G (p.Asn260Asp) c.748A>G (p.Asn250Asp) c.730A>G (p.Asn244Asp) n.822A>G n.813A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726077A>T | CA380265469 | F2 | c.778A>T (p.Asn260Tyr) c.748A>T (p.Asn250Tyr) c.730A>T (p.Asn244Tyr) n.822A>T n.813A>T | COSMIC |
| 11 | g.46726078A>C | CA380265476 | F2 | c.779A>C (p.Asn260Thr) c.749A>C (p.Asn250Thr) c.731A>C (p.Asn244Thr) n.823A>C n.814A>C | |
| 11 | g.46726078A>G | CA380265479 | F2 | c.779A>G (p.Asn260Ser) c.749A>G (p.Asn250Ser) c.731A>G (p.Asn244Ser) n.823A>G n.814A>G | |
| 11 | g.46726078A>T | CA380265481 | F2 | c.779A>T (p.Asn260Ile) c.749A>T (p.Asn250Ile) c.731A>T (p.Asn244Ile) n.823A>T n.814A>T | |
| 11 | g.46726079C>A | CA380265484 | F2 | c.780C>A (p.Asn260Lys) c.750C>A (p.Asn250Lys) c.732C>A (p.Asn244Lys) n.824C>A n.815C>A | |
| 11 | g.46726079C>G | CA380265487 | F2 | c.780C>G (p.Asn260Lys) c.750C>G (p.Asn250Lys) c.732C>G (p.Asn244Lys) n.824C>G n.815C>G | |
| 11 | g.46726079C>T | CA474043775 | F2 | c.780C>T (p.Asn260=) c.750C>T (p.Asn250=) c.732C>T (p.Asn244=) n.824C>T n.815C>T | |
| 11 | g.46726080T>A | CA380265488 | F2 | c.781T>A (p.Phe261Ile) c.751T>A (p.Phe251Ile) c.733T>A (p.Phe245Ile) n.825T>A n.816T>A | |
| 11 | g.46726080T>C | CA380265489 | F2 | c.781T>C (p.Phe261Leu) c.751T>C (p.Phe251Leu) c.733T>C (p.Phe245Leu) n.825T>C n.816T>C | |
| 11 | g.46726080T>G | CA380265492 | F2 | c.781T>G (p.Phe261Val) c.751T>G (p.Phe251Val) c.733T>G (p.Phe245Val) n.825T>G n.816T>G | |
| 11 | g.46726081T>A | CA380265495 | F2 | c.782T>A (p.Phe261Tyr) c.752T>A (p.Phe251Tyr) c.734T>A (p.Phe245Tyr) n.826T>A n.817T>A | |
| 11 | g.46726081T>C | CA380265497 | F2 | c.782T>C (p.Phe261Ser) c.752T>C (p.Phe251Ser) c.734T>C (p.Phe245Ser) n.826T>C n.817T>C | |
| 11 | g.46726081T>G | CA380265506 | F2 | c.782T>G (p.Phe261Cys) c.752T>G (p.Phe251Cys) c.734T>G (p.Phe245Cys) n.826T>G n.817T>G | |
| 11 | g.46726082C>A | CA380265509 | F2 | c.783C>A (p.Phe261Leu) c.753C>A (p.Phe251Leu) c.735C>A (p.Phe245Leu) n.827C>A n.818C>A | |
| 11 | g.46726082C>G | CA380265511 | F2 | c.783C>G (p.Phe261Leu) c.753C>G (p.Phe251Leu) c.735C>G (p.Phe245Leu) n.827C>G n.818C>G | gnomAD v4 |
| 11 | g.46726082C>T | CA474043776 | F2 | c.783C>T (p.Phe261=) c.753C>T (p.Phe251=) c.735C>T (p.Phe245=) n.827C>T n.818C>T | gnomAD v4 |
| 11 | g.46726083T>A | CA380265518 | F2 | c.784T>A (p.Cys262Ser) c.754T>A (p.Cys252Ser) c.736T>A (p.Cys246Ser) n.828T>A n.819T>A | |
| 11 | g.46726083T>C | CA380265514 | F2 | c.784T>C (p.Cys262Arg) c.754T>C (p.Cys252Arg) c.736T>C (p.Cys246Arg) n.828T>C n.819T>C | |
| 11 | g.46726083T>G | CA380265517 | F2 | c.784T>G (p.Cys262Gly) c.754T>G (p.Cys252Gly) c.736T>G (p.Cys246Gly) n.828T>G n.819T>G | |
| 11 | g.46726084G>A | CA380265522 | F2 | c.785G>A (p.Cys262Tyr) c.755G>A (p.Cys252Tyr) c.737G>A (p.Cys246Tyr) n.829G>A n.820G>A | COSMIC |
| 11 | g.46726084G>C | CA380265526 | F2 | c.785G>C (p.Cys262Ser) c.755G>C (p.Cys252Ser) c.737G>C (p.Cys246Ser) n.829G>C n.820G>C | |
| 11 | g.46726084G>T | CA380265528 | F2 | c.785G>T (p.Cys262Phe) c.755G>T (p.Cys252Phe) c.737G>T (p.Cys246Phe) n.829G>T n.820G>T | |
| 11 | g.46726085C>A | CA380265530 | F2 | c.786C>A (p.Cys262Ter) c.756C>A (p.Cys252Ter) c.738C>A (p.Cys246Ter) n.830C>A n.821C>A | |
| 11 | g.46726085C= | CA1969072217 | F2 | c.786C= (p.Cys262=) c.756C= (p.Cys252=) c.738C= (p.Cys246=) n.830C= n.821C= | |
| 11 | g.46726085C>G | CA380265532 | F2 | c.786C>G (p.Cys262Trp) c.756C>G (p.Cys252Trp) c.738C>G (p.Cys246Trp) n.830C>G n.821C>G | |
| 11 | g.46726085C>T | CA474043777 | F2 | c.786C>T (p.Cys262=) c.756C>T (p.Cys252=) c.738C>T (p.Cys246=) n.830C>T n.821C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46726086C>A | CA380265533 | F2 | c.787C>A (p.Arg263Ser) c.757C>A (p.Arg253Ser) c.739C>A (p.Arg247Ser) n.831C>A n.822C>A | |
| 11 | g.46726086C= | CA1969072219 | F2 | c.787C= (p.Arg263=) c.757C= (p.Arg253=) c.739C= (p.Arg247=) n.831C= n.822C= | |
| 11 | g.46726086C>G | CA380265534 | F2 | c.787C>G (p.Arg263Gly) c.757C>G (p.Arg253Gly) c.739C>G (p.Arg247Gly) n.831C>G n.822C>G | |
| 11 | g.46726086C>T | CA380265535 | F2 | c.787C>T (p.Arg263Cys) c.757C>T (p.Arg253Cys) c.739C>T (p.Arg247Cys) n.831C>T n.822C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.46726087G>A | CA380265538 | F2 | c.788G>A (p.Arg263His) c.758G>A (p.Arg253His) c.740G>A (p.Arg247His) n.832G>A n.823G>A | gnomAD v4 COSMIC |
| 11 | g.46726087G>C | CA380265541 | F2 | c.788G>C (p.Arg263Pro) c.758G>C (p.Arg253Pro) c.740G>C (p.Arg247Pro) n.832G>C n.823G>C | |
| 11 | g.46726087G>T | CA380265548 | F2 | c.788G>T (p.Arg263Leu) c.758G>T (p.Arg253Leu) c.740G>T (p.Arg247Leu) n.832G>T n.823G>T | |
| 11 | g.46726088C>A | CA474043780 | F2 | c.789C>A (p.Arg263=) c.759C>A (p.Arg253=) c.741C>A (p.Arg247=) n.833C>A n.824C>A | |
| 11 | g.46726088C>G | CA474043779 | F2 | c.789C>G (p.Arg263=) c.759C>G (p.Arg253=) c.741C>G (p.Arg247=) n.833C>G n.824C>G | |
| 11 | g.46726088C>T | CA474043778 | F2 | c.789C>T (p.Arg263=) c.759C>T (p.Arg253=) c.741C>T (p.Arg247=) n.833C>T n.824C>T | ClinVar |
| 11 | g.46726089A>C | CA380265550 | F2 | c.790A>C (p.Asn264His) c.760A>C (p.Asn254His) c.742A>C (p.Asn248His) n.834A>C n.825A>C | |
| 11 | g.46726089A>G | CA380265555 | F2 | c.790A>G (p.Asn264Asp) c.760A>G (p.Asn254Asp) c.742A>G (p.Asn248Asp) n.834A>G n.825A>G | |
| 11 | g.46726089A>T | CA380265552 | F2 | c.790A>T (p.Asn264Tyr) c.760A>T (p.Asn254Tyr) c.742A>T (p.Asn248Tyr) n.834A>T n.825A>T | |
| 11 | g.46726090A= | CA1969072221 | F2 | c.791A= (p.Asn264=) c.761A= (p.Asn254=) c.743A= (p.Asn248=) n.835A= n.826A= | |
| 11 | g.46726090A>C | CA380265574 | F2 | c.791A>C (p.Asn264Thr) c.761A>C (p.Asn254Thr) c.743A>C (p.Asn248Thr) n.835A>C n.826A>C | |
| 11 | g.46726090A>G | CA5967050 | F2 | c.791A>G (p.Asn264Ser) c.761A>G (p.Asn254Ser) c.743A>G (p.Asn248Ser) n.835A>G n.826A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.46726090A>T | CA380265577 | F2 | c.791A>T (p.Asn264Ile) c.761A>T (p.Asn254Ile) c.743A>T (p.Asn248Ile) n.835A>T n.826A>T | |
| 11 | g.46726091C>A | CA380265579 | F2 | c.792C>A (p.Asn264Lys) c.762C>A (p.Asn254Lys) c.744C>A (p.Asn248Lys) n.836C>A n.827C>A | |
| 11 | g.46726091C>G | CA380265581 | F2 | c.792C>G (p.Asn264Lys) c.762C>G (p.Asn254Lys) c.744C>G (p.Asn248Lys) n.836C>G n.827C>G | |
| 11 | g.46726091C>T | CA474043781 | F2 | c.792C>T (p.Asn264=) c.762C>T (p.Asn254=) c.744C>T (p.Asn248=) n.836C>T n.827C>T | ClinVar |
| 11 | g.46726092C>A | CA380265593 | F2 | c.793C>A (p.Pro265Thr) c.763C>A (p.Pro255Thr) c.745C>A (p.Pro249Thr) n.837C>A n.828C>A | |
| 11 | g.46726092C= | CA1969072222 | F2 | c.793C= (p.Pro265=) c.763C= (p.Pro255=) c.745C= (p.Pro249=) n.837C= n.828C= | |
| 11 | g.46726092C>G | CA380265592 | F2 | c.793C>G (p.Pro265Ala) c.763C>G (p.Pro255Ala) c.745C>G (p.Pro249Ala) n.837C>G n.828C>G | |
| 11 | g.46726092C>T | CA221652083 | F2 | c.793C>T (p.Pro265Ser) c.763C>T (p.Pro255Ser) c.745C>T (p.Pro249Ser) n.837C>T n.828C>T | dbSNP |
| 11 | g.46726093C>A | CA380265594 | F2 | c.794C>A (p.Pro265Gln) c.764C>A (p.Pro255Gln) c.746C>A (p.Pro249Gln) n.838C>A n.829C>A | |
| 11 | g.46726093C>G | CA380265595 | F2 | c.794C>G (p.Pro265Arg) c.764C>G (p.Pro255Arg) c.746C>G (p.Pro249Arg) n.838C>G n.829C>G | |
| 11 | g.46726093C>T | CA380265596 | F2 | c.794C>T (p.Pro265Leu) c.764C>T (p.Pro255Leu) c.746C>T (p.Pro249Leu) n.838C>T n.829C>T | |
| 11 | g.46726094A>C | CA474043782 | F2 | c.795A>C (p.Pro265=) c.765A>C (p.Pro255=) c.747A>C (p.Pro249=) n.839A>C n.830A>C | |
| 11 | g.46726094A>G | CA474043784 | F2 | c.795A>G (p.Pro265=) c.765A>G (p.Pro255=) c.747A>G (p.Pro249=) n.839A>G n.830A>G | |
| 11 | g.46726094A>T | CA474043783 | F2 | c.795A>T (p.Pro265=) c.765A>T (p.Pro255=) c.747A>T (p.Pro249=) n.839A>T n.830A>T | |
| 11 | g.46726095G>A | CA380265600 | F2 | c.796G>A (p.Asp266Asn) c.766G>A (p.Asp256Asn) c.748G>A (p.Asp250Asn) n.840G>A n.831G>A | |
| 11 | g.46726095G>C | CA380265602 | F2 | c.796G>C (p.Asp266His) c.766G>C (p.Asp256His) c.748G>C (p.Asp250His) n.840G>C n.831G>C | COSMIC |
| 11 | g.46726095G>T | CA380265604 | F2 | c.796G>T (p.Asp266Tyr) c.766G>T (p.Asp256Tyr) c.748G>T (p.Asp250Tyr) n.840G>T n.831G>T | |
| 11 | g.46726096A>C | CA380265608 | F2 | c.797A>C (p.Asp266Ala) c.767A>C (p.Asp256Ala) c.749A>C (p.Asp250Ala) n.841A>C n.832A>C | |
| 11 | g.46726096A>G | CA380265606 | F2 | c.797A>G (p.Asp266Gly) c.767A>G (p.Asp256Gly) c.749A>G (p.Asp250Gly) n.841A>G n.832A>G | |
| 11 | g.46726096A>T | CA380265607 | F2 | c.797A>T (p.Asp266Val) c.767A>T (p.Asp256Val) c.749A>T (p.Asp250Val) n.841A>T n.832A>T | |
| 11 | g.46726097C>A | CA380265609 | F2 | c.798C>A (p.Asp266Glu) c.768C>A (p.Asp256Glu) c.750C>A (p.Asp250Glu) n.842C>A n.833C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726097C= | CA1969072225 | F2 | c.798C= (p.Asp266=) c.768C= (p.Asp256=) c.750C= (p.Asp250=) n.842C= n.833C= | |
| 11 | g.46726097C>G | CA380265611 | F2 | c.798C>G (p.Asp266Glu) c.768C>G (p.Asp256Glu) c.750C>G (p.Asp250Glu) n.842C>G n.833C>G | gnomAD v4 |
| 11 | g.46726097C>T | CA5967051 | F2 | c.798C>T (p.Asp266=) c.768C>T (p.Asp256=) c.750C>T (p.Asp250=) n.842C>T n.833C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726098G>A | CA5967053 | F2 | c.799G>A (p.Gly267Arg) c.769G>A (p.Gly257Arg) c.751G>A (p.Gly251Arg) n.843G>A n.834G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726098G>C | CA221652109 | F2 | c.799G>C (p.Gly267Arg) c.769G>C (p.Gly257Arg) c.751G>C (p.Gly251Arg) n.843G>C n.834G>C | dbSNP |
| 11 | g.46726098G= | CA1969072228 | F2 | c.799G= (p.Gly267=) c.769G= (p.Gly257=) c.751G= (p.Gly251=) n.843G= n.834G= | |
| 11 | g.46726098G>T | CA5967052 | F2 | c.799G>T (p.Gly267Trp) c.769G>T (p.Gly257Trp) c.751G>T (p.Gly251Trp) n.843G>T n.834G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.46726098_46726099delinsAA | CA645571956 | F2 | c.799_800delinsAA (p.Gly267Lys) c.769_770delinsAA (p.Gly257Lys) c.751_752delinsAA (p.Gly251Lys) n.843_844delinsAA n.834_835delinsAA | COSMIC |
| 11 | g.46726099G>A | CA380265620 | F2 | c.800G>A (p.Gly267Glu) c.770G>A (p.Gly257Glu) c.752G>A (p.Gly251Glu) n.844G>A n.835G>A | COSMIC |
| 11 | g.46726099G>C | CA380265622 | F2 | c.800G>C (p.Gly267Ala) c.770G>C (p.Gly257Ala) c.752G>C (p.Gly251Ala) n.844G>C n.835G>C | gnomAD v4 |
| 11 | g.46726099G>T | CA380265623 | F2 | c.800G>T (p.Gly267Val) c.770G>T (p.Gly257Val) c.752G>T (p.Gly251Val) n.844G>T n.835G>T | dbSNP |
| 11 | g.46726100G>A | CA474043785 | F2 | c.801G>A (p.Gly267=) c.771G>A (p.Gly257=) c.753G>A (p.Gly251=) n.845G>A n.836G>A | gnomAD v4 |
| 11 | g.46726100G>C | CA474043786 | F2 | c.801G>C (p.Gly267=) c.771G>C (p.Gly257=) c.753G>C (p.Gly251=) n.845G>C n.836G>C | |
| 11 | g.46726100G= | CA1969072230 | F2 | c.801G= (p.Gly267=) c.771G= (p.Gly257=) c.753G= (p.Gly251=) n.845G= n.836G= | |
| 11 | g.46726100G>T | CA5967054 | F2 | c.801G>T (p.Gly267=) c.771G>T (p.Gly257=) c.753G>T (p.Gly251=) n.845G>T n.836G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.46726101G>A | CA380265628 | F2 | c.802G>A (p.Asp268Asn) c.772G>A (p.Asp258Asn) c.754G>A (p.Asp252Asn) n.846G>A n.837G>A | COSMIC |
| 11 | g.46726101G>C | CA380265630 | F2 | c.802G>C (p.Asp268His) c.772G>C (p.Asp258His) c.754G>C (p.Asp252His) n.846G>C n.837G>C | |
| 11 | g.46726101G>T | CA380265634 | F2 | c.802G>T (p.Asp268Tyr) c.772G>T (p.Asp258Tyr) c.754G>T (p.Asp252Tyr) n.846G>T n.837G>T |