| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18599721_18599744dup | CA506044665 | CRLF1 | c.221_244dup (p.Arg81_Arg82insLeuTyrTrpThrLeuAsnGlyArg) n.473_496dup c.155_178dup (p.Arg59_Arg60insLeuTyrTrpThrLeuAsnGlyArg) | |
| 19 | g.18599740G>A | CA506044684 | CRLF1 | c.222C>T (p.Leu74=) n.474C>T c.156C>T (p.Leu52=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18599740G>C | CA506044685 | CRLF1 | c.222C>G (p.Leu74=) n.474C>G c.156C>G (p.Leu52=) | |
| 19 | g.18599740G= | CA2326433860 | CRLF1 | c.222C= (p.Leu74=) n.474C= c.156C= (p.Leu52=) | |
| 19 | g.18599740G>T | CA506044686 | CRLF1 | c.222C>A (p.Leu74=) n.474C>A c.156C>A (p.Leu52=) | |
| 19 | g.18599741A= | CA2326433861 | CRLF1 | c.221T= (p.Leu74=) n.473T= c.155T= (p.Leu52=) | |
| 19 | g.18599741A>C | CA404852142 | CRLF1 | c.221T>G (p.Leu74Arg) n.473T>G c.155T>G (p.Leu52Arg) | |
| 19 | g.18599741A>G | CA404852143 | CRLF1 | c.221T>C (p.Leu74Pro) n.473T>C c.155T>C (p.Leu52Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599741A>T | CA404852144 | CRLF1 | c.221T>A (p.Leu74His) n.473T>A c.155T>A (p.Leu52His) | |
| 19 | g.18599742G>A | CA404852145 | CRLF1 | c.220C>T (p.Leu74Phe) n.472C>T c.154C>T (p.Leu52Phe) | gnomAD v4 |
| 19 | g.18599742G>C | CA404852146 | CRLF1 | c.220C>G (p.Leu74Val) n.472C>G c.154C>G (p.Leu52Val) | |
| 19 | g.18599742G>T | CA404852147 | CRLF1 | c.220C>A (p.Leu74Ile) n.472C>A c.154C>A (p.Leu52Ile) | gnomAD v4 |
| 19 | g.18599743G>A | CA506044687 | CRLF1 | c.219C>T (p.Gly73=) n.471C>T c.153C>T (p.Gly51=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18599743G>C | CA506044688 | CRLF1 | c.219C>G (p.Gly73=) n.471C>G c.153C>G (p.Gly51=) | |
| 19 | g.18599743G= | CA2326433862 | CRLF1 | c.219C= (p.Gly73=) n.471C= c.153C= (p.Gly51=) | |
| 19 | g.18599743G>T | CA506044689 | CRLF1 | c.219C>A (p.Gly73=) n.471C>A c.153C>A (p.Gly51=) | |
| 19 | g.18599744C>A | CA404852148 | CRLF1 | c.218G>T (p.Gly73Val) n.470G>T c.152G>T (p.Gly51Val) | gnomAD v4 |
| 19 | g.18599744C>G | CA404852150 | CRLF1 | c.218G>C (p.Gly73Ala) n.470G>C c.152G>C (p.Gly51Ala) | |
| 19 | g.18599744C>T | CA404852149 | CRLF1 | c.218G>A (p.Gly73Asp) n.470G>A c.152G>A (p.Gly51Asp) | gnomAD v4 |
| 19 | g.18599745C>A | CA404852151 | CRLF1 | c.217G>T (p.Gly73Cys) n.469G>T c.151G>T (p.Gly51Cys) | gnomAD v4 |
| 19 | g.18599745C>G | CA404852152 | CRLF1 | c.217G>C (p.Gly73Arg) n.469G>C c.151G>C (p.Gly51Arg) | |
| 19 | g.18599745C>T | CA404852153 | CRLF1 | c.217G>A (p.Gly73Ser) n.469G>A c.151G>A (p.Gly51Ser) | gnomAD v4 |
| 19 | g.18599746C>A | CA404852154 | CRLF1 | c.216G>T (p.Glu72Asp) n.468G>T c.150G>T (p.Glu50Asp) | |
| 19 | g.18599746C= | CA2326433863 | CRLF1 | c.216G= (p.Glu72=) n.468G= c.150G= (p.Glu50=) | |
| 19 | g.18599746C>G | CA404852155 | CRLF1 | c.216G>C (p.Glu72Asp) n.468G>C c.150G>C (p.Glu50Asp) | |
| 19 | g.18599746C>T | CA506044690 | CRLF1 | c.216G>A (p.Glu72=) n.468G>A c.150G>A (p.Glu50=) | dbSNP gnomAD v4 |
| 19 | g.18599747T>A | CA404852156 | CRLF1 | c.215A>T (p.Glu72Val) n.467A>T c.149A>T (p.Glu50Val) | |
| 19 | g.18599747T>C | CA404852157 | CRLF1 | c.215A>G (p.Glu72Gly) n.467A>G c.149A>G (p.Glu50Gly) | |
| 19 | g.18599747T>G | CA404852158 | CRLF1 | c.215A>C (p.Glu72Ala) n.467A>C c.149A>C (p.Glu50Ala) | |
| 19 | g.18599748C>A | CA404852159 | CRLF1 | c.214G>T (p.Glu72Ter) n.466G>T c.148G>T (p.Glu50Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18599748C= | CA2326433864 | CRLF1 | c.214G= (p.Glu72=) n.466G= c.148G= (p.Glu50=) | |
| 19 | g.18599748C>G | CA404852160 | CRLF1 | c.214G>C (p.Glu72Gln) n.466G>C c.148G>C (p.Glu50Gln) | gnomAD v4 COSMIC |
| 19 | g.18599748C>T | CA9314309 | CRLF1 | c.214G>A (p.Glu72Lys) n.466G>A c.148G>A (p.Glu50Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.18599749G>A | CA9314310 | CRLF1 | c.213C>T (p.Ala71=) n.465C>T c.147C>T (p.Ala49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599749G>C | CA9314311 | CRLF1 | c.213C>G (p.Ala71=) n.465C>G c.147C>G (p.Ala49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599749G= | CA2326433865 | CRLF1 | c.213C= (p.Ala71=) n.465C= c.147C= (p.Ala49=) | |
| 19 | g.18599749G>T | CA506044691 | CRLF1 | c.213C>A (p.Ala71=) n.465C>A c.147C>A (p.Ala49=) | |
| 19 | g.18599750G>A | CA404852161 | CRLF1 | c.212C>T (p.Ala71Val) n.464C>T c.146C>T (p.Ala49Val) | gnomAD v4 |
| 19 | g.18599750G>C | CA404852162 | CRLF1 | c.212C>G (p.Ala71Gly) n.464C>G c.146C>G (p.Ala49Gly) | gnomAD v4 |
| 19 | g.18599750G= | CA2326433866 | CRLF1 | c.212C= (p.Ala71=) n.464C= c.146C= (p.Ala49=) | |
| 19 | g.18599750G>T | CA306262402 | CRLF1 | c.212C>A (p.Ala71Asp) n.464C>A c.146C>A (p.Ala49Asp) | dbSNP |
| 19 | g.18599751C>A | CA404852163 | CRLF1 | c.211G>T (p.Ala71Ser) n.463G>T c.145G>T (p.Ala49Ser) | gnomAD v4 |
| 19 | g.18599751C= | CA2326433867 | CRLF1 | c.211G= (p.Ala71=) n.463G= c.145G= (p.Ala49=) | |
| 19 | g.18599751C>G | CA404852164 | CRLF1 | c.211G>C (p.Ala71Pro) n.463G>C c.145G>C (p.Ala49Pro) | |
| 19 | g.18599751C>T | CA9314312 | CRLF1 | c.211G>A (p.Ala71Thr) n.463G>A c.145G>A (p.Ala49Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599752G>A | CA9314313 | CRLF1 | c.210C>T (p.Thr70=) n.462C>T c.144C>T (p.Thr48=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599752G>C | CA506044692 | CRLF1 | c.210C>G (p.Thr70=) n.462C>G c.144C>G (p.Thr48=) | |
| 19 | g.18599752G= | CA2326433868 | CRLF1 | c.210C= (p.Thr70=) n.462C= c.144C= (p.Thr48=) | |
| 19 | g.18599752G>T | CA506044693 | CRLF1 | c.210C>A (p.Thr70=) n.462C>A c.144C>A (p.Thr48=) | dbSNP gnomAD v4 |
| 19 | g.18599753G>A | CA404852167 | CRLF1 | c.209C>T (p.Thr70Ile) n.461C>T c.143C>T (p.Thr48Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18599753G>C | CA404852165 | CRLF1 | c.209C>G (p.Thr70Ser) n.461C>G c.143C>G (p.Thr48Ser) | |
| 19 | g.18599753G= | CA2326433869 | CRLF1 | c.209C= (p.Thr70=) n.461C= c.143C= (p.Thr48=) | |
| 19 | g.18599753G>T | CA404852166 | CRLF1 | c.209C>A (p.Thr70Asn) n.461C>A c.143C>A (p.Thr48Asn) | |
| 19 | g.18599754T>A | CA404852168 | CRLF1 | c.208A>T (p.Thr70Ser) n.460A>T c.142A>T (p.Thr48Ser) | |
| 19 | g.18599754T>C | CA404852169 | CRLF1 | c.208A>G (p.Thr70Ala) n.460A>G c.142A>G (p.Thr48Ala) | |
| 19 | g.18599754T>G | CA404852170 | CRLF1 | c.208A>C (p.Thr70Pro) n.460A>C c.142A>C (p.Thr48Pro) | dbSNP |
| 19 | g.18599754T= | CA2326433870 | CRLF1 | c.208A= (p.Thr70=) n.460A= c.142A= (p.Thr48=) | |
| 19 | g.18599755G>A | CA506044694 | CRLF1 | c.207C>T (p.Ala69=) n.459C>T c.141C>T (p.Ala47=) | |
| 19 | g.18599755G>C | CA506044695 | CRLF1 | c.207C>G (p.Ala69=) n.459C>G c.141C>G (p.Ala47=) | |
| 19 | g.18599755G>T | CA506044696 | CRLF1 | c.207C>A (p.Ala69=) n.459C>A c.141C>A (p.Ala47=) | |
| 19 | g.18599756G>A | CA404852171 | CRLF1 | c.206C>T (p.Ala69Val) n.458C>T c.140C>T (p.Ala47Val) | gnomAD v4 |
| 19 | g.18599756G>C | CA404852172 | CRLF1 | c.206C>G (p.Ala69Gly) n.458C>G c.140C>G (p.Ala47Gly) | |
| 19 | g.18599756G>T | CA404852173 | CRLF1 | c.206C>A (p.Ala69Asp) n.458C>A c.140C>A (p.Ala47Asp) | gnomAD v4 |
| 19 | g.18599757C>A | CA404852174 | CRLF1 | c.205G>T (p.Ala69Ser) n.457G>T c.139G>T (p.Ala47Ser) | gnomAD v4 |
| 19 | g.18599757C= | CA2326433871 | CRLF1 | c.205G= (p.Ala69=) n.457G= c.139G= (p.Ala47=) | |
| 19 | g.18599757C>G | CA404852176 | CRLF1 | c.205G>C (p.Ala69Pro) n.457G>C c.139G>C (p.Ala47Pro) | dbSNP |
| 19 | g.18599757C>T | CA404852175 | CRLF1 | c.205G>A (p.Ala69Thr) n.457G>A c.139G>A (p.Ala47Thr) | dbSNP |
| 19 | g.18599758T>A | CA506044697 | CRLF1 | c.204A>T (p.Gly68=) n.456A>T c.138A>T (p.Gly46=) | |
| 19 | g.18599758T>C | CA506044699 | CRLF1 | c.204A>G (p.Gly68=) n.456A>G c.138A>G (p.Gly46=) | |
| 19 | g.18599758T>G | CA506044698 | CRLF1 | c.204A>C (p.Gly68=) n.456A>C c.138A>C (p.Gly46=) | |
| 19 | g.18599759C>A | CA404852177 | CRLF1 | c.203G>T (p.Gly68Val) n.455G>T c.137G>T (p.Gly46Val) | gnomAD v4 |
| 19 | g.18599759C= | CA2326433872 | CRLF1 | c.203G= (p.Gly68=) n.455G= c.137G= (p.Gly46=) | |
| 19 | g.18599759C>G | CA404852178 | CRLF1 | c.203G>C (p.Gly68Ala) n.455G>C c.137G>C (p.Gly46Ala) | |
| 19 | g.18599759C>T | CA404852179 | CRLF1 | c.203G>A (p.Gly68Glu) n.455G>A c.137G>A (p.Gly46Glu) | dbSNP gnomAD v4 |
| 19 | g.18599760C>A | CA404852180 | CRLF1 | c.202G>T (p.Gly68Ter) n.454G>T c.136G>T (p.Gly46Ter) | gnomAD v4 |
| 19 | g.18599760C>G | CA404852181 | CRLF1 | c.202G>C (p.Gly68Arg) n.454G>C c.136G>C (p.Gly46Arg) | |
| 19 | g.18599760C>T | CA404852182 | CRLF1 | c.202G>A (p.Gly68Arg) n.454G>A c.136G>A (p.Gly46Arg) | |
| 19 | g.18599761T>A | CA506044700 | CRLF1 | c.201A>T (p.Pro67=) n.453A>T c.135A>T (p.Pro45=) | |
| 19 | g.18599761T>C | CA506044701 | CRLF1 | c.201A>G (p.Pro67=) n.453A>G c.135A>G (p.Pro45=) | dbSNP |
| 19 | g.18599761T>G | CA506044702 | CRLF1 | c.201A>C (p.Pro67=) n.453A>C c.135A>C (p.Pro45=) | |
| 19 | g.18599761T= | CA2326433873 | CRLF1 | c.201A= (p.Pro67=) n.453A= c.135A= (p.Pro45=) | |
| 19 | g.18599762G>A | CA404852183 | CRLF1 | c.200C>T (p.Pro67Leu) n.452C>T c.134C>T (p.Pro45Leu) | |
| 19 | g.18599762G>C | CA404852184 | CRLF1 | c.200C>G (p.Pro67Arg) n.452C>G c.134C>G (p.Pro45Arg) | |
| 19 | g.18599762G>T | CA404852185 | CRLF1 | c.200C>A (p.Pro67Gln) n.452C>A c.134C>A (p.Pro45Gln) | gnomAD v4 |
| 19 | g.18599763G>A | CA404852186 | CRLF1 | c.199C>T (p.Pro67Ser) n.451C>T c.133C>T (p.Pro45Ser) | |
| 19 | g.18599763G>C | CA404852187 | CRLF1 | c.199C>G (p.Pro67Ala) n.451C>G c.133C>G (p.Pro45Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18599763G= | CA2326433874 | CRLF1 | c.199C= (p.Pro67=) n.451C= c.133C= (p.Pro45=) | |
| 19 | g.18599763G>T | CA404852188 | CRLF1 | c.199C>A (p.Pro67Thr) n.451C>A c.133C>A (p.Pro45Thr) | |
| 19 | g.18599763_18599764insCGGCGAAGGCC | CA2583603782 | CRLF1 | c.198_199insGGCCTTCGCCG (p.Pro67GlyfsTer?) n.450_451insGGCCTTCGCCG c.132_133insGGCCTTCGCCG (p.Pro45GlyfsTer?) | gnomAD v4 |
| 19 | g.18599764T>A | CA506044703 | CRLF1 | c.198A>T (p.Pro66=) n.450A>T c.132A>T (p.Pro44=) | |
| 19 | g.18599764T>C | CA506044704 | CRLF1 | c.198A>G (p.Pro66=) n.450A>G c.132A>G (p.Pro44=) | |
| 19 | g.18599764T>G | CA506044705 | CRLF1 | c.198A>C (p.Pro66=) n.450A>C c.132A>C (p.Pro44=) | dbSNP |
| 19 | g.18599764T= | CA2326433875 | CRLF1 | c.198A= (p.Pro66=) n.450A= c.132A= (p.Pro44=) | |
| 19 | g.18599765G>A | CA404852189 | CRLF1 | c.197C>T (p.Pro66Leu) n.449C>T c.131C>T (p.Pro44Leu) | gnomAD v4 |
| 19 | g.18599765G>C | CA404852191 | CRLF1 | c.197C>G (p.Pro66Arg) n.449C>G c.131C>G (p.Pro44Arg) | |
| 19 | g.18599765G= | CA2326433876 | CRLF1 | c.197C= (p.Pro66=) n.449C= c.131C= (p.Pro44=) | |
| 19 | g.18599765G>T | CA404852190 | CRLF1 | c.197C>A (p.Pro66Gln) n.449C>A c.131C>A (p.Pro44Gln) | dbSNP |
| 19 | g.18599766G>A | CA404852192 | CRLF1 | c.196C>T (p.Pro66Ser) n.448C>T c.130C>T (p.Pro44Ser) | |
| 19 | g.18599766G>C | CA404852193 | CRLF1 | c.196C>G (p.Pro66Ala) n.448C>G c.130C>G (p.Pro44Ala) | |
| 19 | g.18599766G>T | CA404852194 | CRLF1 | c.196C>A (p.Pro66Thr) n.448C>A c.130C>A (p.Pro44Thr) | |
| 19 | g.18599767G>A | CA506044706 | CRLF1 | c.195C>T (p.Asp65=) n.447C>T c.129C>T (p.Asp43=) | |
| 19 | g.18599767G>C | CA404852195 | CRLF1 | c.195C>G (p.Asp65Glu) n.447C>G c.129C>G (p.Asp43Glu) | |
| 19 | g.18599767G= | CA2326433877 | CRLF1 | c.195C= (p.Asp65=) n.447C= c.129C= (p.Asp43=) | |
| 19 | g.18599767G>T | CA9314314 | CRLF1 | c.195C>A (p.Asp65Glu) n.447C>A c.129C>A (p.Asp43Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599768T>A | CA404852198 | CRLF1 | c.194A>T (p.Asp65Val) n.446A>T c.128A>T (p.Asp43Val) | |
| 19 | g.18599768T>C | CA404852197 | CRLF1 | c.194A>G (p.Asp65Gly) n.446A>G c.128A>G (p.Asp43Gly) | |
| 19 | g.18599768T>G | CA404852196 | CRLF1 | c.194A>C (p.Asp65Ala) n.446A>C c.128A>C (p.Asp43Ala) | dbSNP |
| 19 | g.18599768T= | CA2326433878 | CRLF1 | c.194A= (p.Asp65=) n.446A= c.128A= (p.Asp43=) | |
| 19 | g.18599769C>A | CA404852199 | CRLF1 | c.193G>T (p.Asp65Tyr) n.445G>T c.127G>T (p.Asp43Tyr) | gnomAD v4 |
| 19 | g.18599769C>G | CA404852200 | CRLF1 | c.193G>C (p.Asp65His) n.445G>C c.127G>C (p.Asp43His) | dbSNP gnomAD v4 |
| 19 | g.18599769C>T | CA404852201 | CRLF1 | c.193G>A (p.Asp65Asn) n.445G>A c.127G>A (p.Asp43Asn) | gnomAD v4 |
| 19 | g.18599770T>A | CA506044707 | CRLF1 | c.192A>T (p.Gly64=) n.444A>T c.126A>T (p.Gly42=) | |
| 19 | g.18599770T>C | CA506044708 | CRLF1 | c.192A>G (p.Gly64=) n.444A>G c.126A>G (p.Gly42=) | gnomAD v4 |
| 19 | g.18599770T>G | CA306262407 | CRLF1 | c.192A>C (p.Gly64=) n.444A>C c.126A>C (p.Gly42=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599770T= | CA2326433879 | CRLF1 | c.192A= (p.Gly64=) n.444A= c.126A= (p.Gly42=) | |
| 19 | g.18599771C>A | CA404852202 | CRLF1 | c.191G>T (p.Gly64Val) n.443G>T c.125G>T (p.Gly42Val) | |
| 19 | g.18599771C= | CA2326433880 | CRLF1 | c.191G= (p.Gly64=) n.443G= c.125G= (p.Gly42=) | |
| 19 | g.18599771C>G | CA404852203 | CRLF1 | c.191G>C (p.Gly64Ala) n.443G>C c.125G>C (p.Gly42Ala) | gnomAD v4 |
| 19 | g.18599771C>T | CA404852204 | CRLF1 | c.191G>A (p.Gly64Glu) n.443G>A c.125G>A (p.Gly42Glu) | dbSNP |
| 19 | g.18599772C>A | CA404852205 | CRLF1 | c.190G>T (p.Gly64Ter) n.442G>T c.124G>T (p.Gly42Ter) | gnomAD v4 |
| 19 | g.18599772C= | CA2326433881 | CRLF1 | c.190G= (p.Gly64=) n.442G= c.124G= (p.Gly42=) | |
| 19 | g.18599772C>G | CA404852206 | CRLF1 | c.190G>C (p.Gly64Arg) n.442G>C c.124G>C (p.Gly42Arg) | |
| 19 | g.18599772C>T | CA9314315 | CRLF1 | c.190G>A (p.Gly64Arg) n.442G>A c.124G>A (p.Gly42Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599773G>A | CA506044709 | CRLF1 | c.189C>T (p.His63=) n.441C>T c.123C>T (p.His41=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599773G>C | CA404852207 | CRLF1 | c.189C>G (p.His63Gln) n.441C>G c.123C>G (p.His41Gln) | |
| 19 | g.18599773G= | CA2326433882 | CRLF1 | c.189C= (p.His63=) n.441C= c.123C= (p.His41=) | |
| 19 | g.18599773G>T | CA404852208 | CRLF1 | c.189C>A (p.His63Gln) n.441C>A c.123C>A (p.His41Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599774T>A | CA404852209 | CRLF1 | c.188A>T (p.His63Leu) n.440A>T c.122A>T (p.His41Leu) | |
| 19 | g.18599774T>C | CA404852210 | CRLF1 | c.188A>G (p.His63Arg) n.440A>G c.122A>G (p.His41Arg) | |
| 19 | g.18599774T>G | CA404852211 | CRLF1 | c.188A>C (p.His63Pro) n.440A>C c.122A>C (p.His41Pro) | |
| 19 | g.18599775G>A | CA404852212 | CRLF1 | c.187C>T (p.His63Tyr) n.439C>T c.121C>T (p.His41Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18599775G>C | CA404852213 | CRLF1 | c.187C>G (p.His63Asp) n.439C>G c.121C>G (p.His41Asp) | |
| 19 | g.18599775G= | CA2326433883 | CRLF1 | c.187C= (p.His63=) n.439C= c.121C= (p.His41=) | |
| 19 | g.18599775G>T | CA404852214 | CRLF1 | c.187C>A (p.His63Asn) n.439C>A c.121C>A (p.His41Asn) | |
| 19 | g.18599776C>A | CA506044710 | CRLF1 | c.186G>T (p.Val62=) n.438G>T c.120G>T (p.Val40=) | gnomAD v4 |
| 19 | g.18599776C= | CA2326433884 | CRLF1 | c.186G= (p.Val62=) n.438G= c.120G= (p.Val40=) | |
| 19 | g.18599776C>G | CA506044711 | CRLF1 | c.186G>C (p.Val62=) n.438G>C c.120G>C (p.Val40=) | |
| 19 | g.18599776C>T | CA506044712 | CRLF1 | c.186G>A (p.Val62=) n.438G>A c.120G>A (p.Val40=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18599777A= | CA2326433885 | CRLF1 | c.185T= (p.Val62=) n.437T= c.119T= (p.Val40=) | |
| 19 | g.18599777A>C | CA404852215 | CRLF1 | c.185T>G (p.Val62Gly) n.437T>G c.119T>G (p.Val40Gly) | dbSNP |
| 19 | g.18599777A>G | CA9314316 | CRLF1 | c.185T>C (p.Val62Ala) n.437T>C c.119T>C (p.Val40Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18599777A>T | CA404852216 | CRLF1 | c.185T>A (p.Val62Glu) n.437T>A c.119T>A (p.Val40Glu) | |
| 19 | g.18599778C>A | CA404852217 | CRLF1 | c.184G>T (p.Val62Leu) n.436G>T c.118G>T (p.Val40Leu) | |
| 19 | g.18599778C>G | CA404852219 | CRLF1 | c.184G>C (p.Val62Leu) n.436G>C c.118G>C (p.Val40Leu) | |
| 19 | g.18599778C>T | CA404852218 | CRLF1 | c.184G>A (p.Val62Met) n.436G>A c.118G>A (p.Val40Met) | gnomAD v4 |
| 19 | g.18599778_18599779insCACC | CA2583603783 | CRLF1 | c.184_185insGTGG (p.Val62GlyfsTer26) n.436_437insGTGG c.118_119insGTGG (p.Val40GlyfsTer26) | gnomAD v4 |
| 19 | g.18599779T>A | CA506044714 | CRLF1 | c.183A>T (p.Ser61=) n.435A>T c.117A>T (p.Ser39=) | gnomAD v4 |
| 19 | g.18599779T>C | CA506044715 | CRLF1 | c.183A>G (p.Ser61=) n.435A>G c.117A>G (p.Ser39=) | gnomAD v4 |
| 19 | g.18599779T>G | CA506044713 | CRLF1 | c.183A>C (p.Ser61=) n.435A>C c.117A>C (p.Ser39=) | |
| 19 | g.18599780G>A | CA404852220 | CRLF1 | c.182C>T (p.Ser61Leu) n.434C>T c.116C>T (p.Ser39Leu) | |
| 19 | g.18599780G>C | CA404852221 | CRLF1 | c.182C>G (p.Ser61Ter) n.434C>G c.116C>G (p.Ser39Ter) | gnomAD v4 |
| 19 | g.18599780G>T | CA404852222 | CRLF1 | c.182C>A (p.Ser61Ter) n.434C>A c.116C>A (p.Ser39Ter) | |
| 19 | g.18599780_18599781insCCAAC | CA2583603784 | CRLF1 | c.181_182insGTTGG (p.Ser61CysfsTer?) n.433_434insGTTGG c.115_116insGTTGG (p.Ser39CysfsTer?) | gnomAD v4 |
| 19 | g.18599781A>C | CA404852223 | CRLF1 | c.181T>G (p.Ser61Ala) n.433T>G c.115T>G (p.Ser39Ala) | |
| 19 | g.18599781A>G | CA404852224 | CRLF1 | c.181T>C (p.Ser61Pro) n.433T>C c.115T>C (p.Ser39Pro) | |
| 19 | g.18599781A>T | CA404852225 | CRLF1 | c.181T>A (p.Ser61Thr) n.433T>A c.115T>A (p.Ser39Thr) | |
| 19 | g.18599782G>A | CA506044716 | CRLF1 | c.180C>T (p.Cys60=) n.432C>T c.114C>T (p.Cys38=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18599782G>C | CA404852227 | CRLF1 | c.180C>G (p.Cys60Trp) n.432C>G c.114C>G (p.Cys38Trp) | COSMIC |
| 19 | g.18599782G= | CA2326433886 | CRLF1 | c.180C= (p.Cys60=) n.432C= c.114C= (p.Cys38=) | |
| 19 | g.18599782G>T | CA404852226 | CRLF1 | c.180C>A (p.Cys60Ter) n.432C>A c.114C>A (p.Cys38Ter) | gnomAD v4 |
| 19 | g.18599783C>A | CA404852228 | CRLF1 | c.179G>T (p.Cys60Phe) n.431G>T c.113G>T (p.Cys38Phe) | gnomAD v4 |
| 19 | g.18599783C>G | CA404852229 | CRLF1 | c.179G>C (p.Cys60Ser) n.431G>C c.113G>C (p.Cys38Ser) | |
| 19 | g.18599783C>T | CA404852230 | CRLF1 | c.179G>A (p.Cys60Tyr) n.431G>A c.113G>A (p.Cys38Tyr) | gnomAD v4 |
| 19 | g.18599784A= | CA2326433887 | CRLF1 | c.178T= (p.Cys60=) n.430T= c.112T= (p.Cys38=) | |
| 19 | g.18599784A>C | CA404852231 | CRLF1 | c.178T>G (p.Cys60Gly) n.430T>G c.112T>G (p.Cys38Gly) | dbSNP |
| 19 | g.18599784A>G | CA404852232 | CRLF1 | c.178T>C (p.Cys60Arg) n.430T>C c.112T>C (p.Cys38Arg) | gnomAD v4 |
| 19 | g.18599784A>T | CA404852233 | CRLF1 | c.178T>A (p.Cys60Ser) n.430T>A c.112T>A (p.Cys38Ser) | |
| 19 | g.18599785G>A | CA506044717 | CRLF1 | c.177C>T (p.Thr59=) n.429C>T c.111C>T (p.Thr37=) | gnomAD v4 |
| 19 | g.18599785G>C | CA506044718 | CRLF1 | c.177C>G (p.Thr59=) n.429C>G c.111C>G (p.Thr37=) | |
| 19 | g.18599785G>T | CA506044719 | CRLF1 | c.177C>A (p.Thr59=) n.429C>A c.111C>A (p.Thr37=) | gnomAD v4 |
| 19 | g.18599786G>A | CA404852236 | CRLF1 | c.176C>T (p.Thr59Ile) n.428C>T c.110C>T (p.Thr37Ile) | dbSNP gnomAD v4 |
| 19 | g.18599786G>C | CA404852234 | CRLF1 | c.176C>G (p.Thr59Ser) n.428C>G c.110C>G (p.Thr37Ser) | |
| 19 | g.18599786G= | CA2326433888 | CRLF1 | c.176C= (p.Thr59=) n.428C= c.110C= (p.Thr37=) | |
| 19 | g.18599786G>T | CA404852235 | CRLF1 | c.176C>A (p.Thr59Asn) n.428C>A c.110C>A (p.Thr37Asn) | gnomAD v4 |
| 19 | g.18599787T>A | CA404852237 | CRLF1 | c.175A>T (p.Thr59Ser) n.427A>T c.109A>T (p.Thr37Ser) | |
| 19 | g.18599787T>C | CA404852238 | CRLF1 | c.175A>G (p.Thr59Ala) n.427A>G c.109A>G (p.Thr37Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18599787T>G | CA404852239 | CRLF1 | c.175A>C (p.Thr59Pro) n.427A>C c.109A>C (p.Thr37Pro) | dbSNP |
| 19 | g.18599787T= | CA2326433889 | CRLF1 | c.175A= (p.Thr59=) n.427A= c.109A= (p.Thr37=) | |
| 19 | g.18599787_18599790delinsTGGC | CA2326433890 | CRLF1 | c.172_175delinsGCCA (p.Ala58=) n.424_427delinsGCCA c.106_109delinsGCCA (p.Ala36=) | |
| 19 | g.18599788G>A | CA506044720 | CRLF1 | c.174C>T (p.Ala58=) n.426C>T c.108C>T (p.Ala36=) | dbSNP gnomAD v4 |
| 19 | g.18599788G>C | CA506044721 | CRLF1 | c.174C>G (p.Ala58=) n.426C>G c.108C>G (p.Ala36=) | |
| 19 | g.18599788G= | CA2326433891 | CRLF1 | c.174C= (p.Ala58=) n.426C= c.108C= (p.Ala36=) | |
| 19 | g.18599788G>T | CA506044722 | CRLF1 | c.174C>A (p.Ala58=) n.426C>A c.108C>A (p.Ala36=) | |
| 19 | g.18599788_18599790del | CA2326433892 | CRLF1 | c.172_174del (p.Ala58del) n.424_426del c.106_108del (p.Ala36del) | dbSNP |
| 19 | g.18599789G>A | CA404852240 | CRLF1 | c.173C>T (p.Ala58Val) n.425C>T c.107C>T (p.Ala36Val) | gnomAD v4 |
| 19 | g.18599789G>C | CA404852241 | CRLF1 | c.173C>G (p.Ala58Gly) n.425C>G c.107C>G (p.Ala36Gly) | |
| 19 | g.18599789G>T | CA404852242 | CRLF1 | c.173C>A (p.Ala58Asp) n.425C>A c.107C>A (p.Ala36Asp) | gnomAD v4 COSMIC |
| 19 | g.18599790C>A | CA404852243 | CRLF1 | c.172G>T (p.Ala58Ser) n.424G>T c.106G>T (p.Ala36Ser) | |
| 19 | g.18599790C= | CA2326433893 | CRLF1 | c.172G= (p.Ala58=) n.424G= c.106G= (p.Ala36=) | |
| 19 | g.18599790C>G | CA9314317 | CRLF1 | c.172G>C (p.Ala58Pro) n.424G>C c.106G>C (p.Ala36Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599790C>T | CA404852244 | CRLF1 | c.172G>A (p.Ala58Thr) n.424G>A c.106G>A (p.Ala36Thr) | gnomAD v4 |
| 19 | g.18599791C>A | CA506044723 | CRLF1 | c.171G>T (p.Leu57=) n.423G>T c.105G>T (p.Leu35=) | gnomAD v4 |
| 19 | g.18599791C= | CA2326433894 | CRLF1 | c.171G= (p.Leu57=) n.423G= c.105G= (p.Leu35=) | |
| 19 | g.18599791C>G | CA506044724 | CRLF1 | c.171G>C (p.Leu57=) n.423G>C c.105G>C (p.Leu35=) | gnomAD v4 |
| 19 | g.18599791C>T | CA9314318 | CRLF1 | c.171G>A (p.Leu57=) n.423G>A c.105G>A (p.Leu35=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18599792del | CA2576724795 | CRLF1 | c.170del (p.Leu57ArgfsTer?) n.422del c.104del (p.Leu35ArgfsTer?) | |
| 19 | g.18599792A= | CA2326433895 | CRLF1 | c.170T= (p.Leu57=) n.422T= c.104T= (p.Leu35=) | |
| 19 | g.18599792A>C | CA404852245 | CRLF1 | c.170T>G (p.Leu57Arg) n.422T>G c.104T>G (p.Leu35Arg) | |
| 19 | g.18599792A>G | CA404852246 | CRLF1 | c.170T>C (p.Leu57Pro) n.422T>C c.104T>C (p.Leu35Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599792A>T | CA404852247 | CRLF1 | c.170T>A (p.Leu57Gln) n.422T>A c.104T>A (p.Leu35Gln) | gnomAD v4 |
| 19 | g.18599793G>A | CA9314319 | CRLF1 | c.169C>T (p.Leu57=) n.421C>T c.103C>T (p.Leu35=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599793G>C | CA404852249 | CRLF1 | c.169C>G (p.Leu57Val) n.421C>G c.103C>G (p.Leu35Val) | |
| 19 | g.18599793G= | CA2326433896 | CRLF1 | c.169C= (p.Leu57=) n.421C= c.103C= (p.Leu35=) | |
| 19 | g.18599793G>T | CA404852248 | CRLF1 | c.169C>A (p.Leu57Met) n.421C>A c.103C>A (p.Leu35Met) | |
| 19 | g.18599794C>A | CA506044725 | CRLF1 | c.168G>T (p.Leu56=) n.420G>T c.102G>T (p.Leu34=) | gnomAD v4 |
| 19 | g.18599794C>G | CA506044726 | CRLF1 | c.168G>C (p.Leu56=) n.420G>C c.102G>C (p.Leu34=) | |
| 19 | g.18599794C>T | CA506044727 | CRLF1 | c.168G>A (p.Leu56=) n.420G>A c.102G>A (p.Leu34=) | gnomAD v4 |
| 19 | g.18599795A= | CA2326433897 | CRLF1 | c.167T= (p.Leu56=) n.419T= c.101T= (p.Leu34=) | |
| 19 | g.18599795A>C | CA404852250 | CRLF1 | c.167T>G (p.Leu56Arg) n.419T>G c.101T>G (p.Leu34Arg) | |
| 19 | g.18599795A>G | CA404852251 | CRLF1 | c.167T>C (p.Leu56Pro) n.419T>C c.101T>C (p.Leu34Pro) | ClinVar gnomAD v4 |
| 19 | g.18599795A>T | CA404852252 | CRLF1 | c.167T>A (p.Leu56Gln) n.419T>A c.101T>A (p.Leu34Gln) | gnomAD v4 |
| 19 | g.18599796G>A | CA506044728 | CRLF1 | c.166C>T (p.Leu56=) n.418C>T c.100C>T (p.Leu34=) | |
| 19 | g.18599796G>C | CA404852253 | CRLF1 | c.166C>G (p.Leu56Val) n.418C>G c.100C>G (p.Leu34Val) | |
| 19 | g.18599796G>T | CA404852254 | CRLF1 | c.166C>A (p.Leu56Met) n.418C>A c.100C>A (p.Leu34Met) | gnomAD v4 |
| 19 | g.18599798dup | CA306262425 | CRLF1 | c.166dup (p.Leu56ProfsTer?) n.418dup c.100dup (p.Leu34ProfsTer?) | dbSNP |
| 19 | g.18599797G>A | CA506044729 | CRLF1 | c.165C>T (p.Ser55=) n.417C>T c.99C>T (p.Ser33=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18599797G>C | CA506044730 | CRLF1 | c.165C>G (p.Ser55=) n.417C>G c.99C>G (p.Ser33=) | |
| 19 | g.18599797G= | CA2326433898 | CRLF1 | c.165C= (p.Ser55=) n.417C= c.99C= (p.Ser33=) | |
| 19 | g.18599797G>T | CA506044731 | CRLF1 | c.165C>A (p.Ser55=) n.417C>A c.99C>A (p.Ser33=) | gnomAD v4 |
| 19 | g.18599798G>A | CA404852255 | CRLF1 | c.164C>T (p.Ser55Phe) n.416C>T c.98C>T (p.Ser33Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.18599798G>C | CA404852256 | CRLF1 | c.164C>G (p.Ser55Cys) n.416C>G c.98C>G (p.Ser33Cys) | |
| 19 | g.18599798G= | CA2326433899 | CRLF1 | c.164C= (p.Ser55=) n.416C= c.98C= (p.Ser33=) | |
| 19 | g.18599798G>T | CA404852257 | CRLF1 | c.164C>A (p.Ser55Tyr) n.416C>A c.98C>A (p.Ser33Tyr) | |
| 19 | g.18599799A= | CA2326433900 | CRLF1 | c.163T= (p.Ser55=) n.415T= c.97T= (p.Ser33=) | |
| 19 | g.18599799A>C | CA404852258 | CRLF1 | c.163T>G (p.Ser55Ala) n.415T>G c.97T>G (p.Ser33Ala) | |
| 19 | g.18599799A>G | CA9314320 | CRLF1 | c.163T>C (p.Ser55Pro) n.415T>C c.97T>C (p.Ser33Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18599799A>T | CA404852259 | CRLF1 | c.163T>A (p.Ser55Thr) n.415T>A c.97T>A (p.Ser33Thr) | |
| 19 | g.18599800G>A | CA506044732 | CRLF1 | c.162C>T (p.Ser54=) n.414C>T c.96C>T (p.Ser32=) | gnomAD v4 |
| 19 | g.18599800G>C | CA506044733 | CRLF1 | c.162C>G (p.Ser54=) n.414C>G c.96C>G (p.Ser32=) | |
| 19 | g.18599800G>T | CA506044734 | CRLF1 | c.162C>A (p.Ser54=) n.414C>A c.96C>A (p.Ser32=) | |
| 19 | g.18599801G>A | CA404852262 | CRLF1 | c.161C>T (p.Ser54Phe) n.413C>T c.95C>T (p.Ser32Phe) | gnomAD v4 |
| 19 | g.18599801G>C | CA404852260 | CRLF1 | c.161C>G (p.Ser54Cys) n.413C>G c.95C>G (p.Ser32Cys) | |
| 19 | g.18599801G= | CA2326433901 | CRLF1 | c.161C= (p.Ser54=) n.413C= c.95C= (p.Ser32=) | |
| 19 | g.18599801G>T | CA404852261 | CRLF1 | c.161C>A (p.Ser54Tyr) n.413C>A c.95C>A (p.Ser32Tyr) | dbSNP |
| 19 | g.18599802A= | CA2326433902 | CRLF1 | c.160T= (p.Ser54=) n.412T= c.94T= (p.Ser32=) | |
| 19 | g.18599802A>C | CA404852263 | CRLF1 | c.160T>G (p.Ser54Ala) n.412T>G c.94T>G (p.Ser32Ala) | |
| 19 | g.18599802A>G | CA404852264 | CRLF1 | c.160T>C (p.Ser54Pro) n.412T>C c.94T>C (p.Ser32Pro) | dbSNP |
| 19 | g.18599802A>T | CA404852265 | CRLF1 | c.160T>A (p.Ser54Thr) n.412T>A c.94T>A (p.Ser32Thr) | dbSNP |
| 19 | g.18599803G>A | CA506044735 | CRLF1 | c.159C>T (p.Gly53=) n.411C>T c.93C>T (p.Gly31=) | gnomAD v4 |
| 19 | g.18599803G>C | CA506044736 | CRLF1 | c.159C>G (p.Gly53=) n.411C>G c.93C>G (p.Gly31=) | |
| 19 | g.18599803G>T | CA506044737 | CRLF1 | c.159C>A (p.Gly53=) n.411C>A c.93C>A (p.Gly31=) | gnomAD v4 |
| 19 | g.18599804C>A | CA404852266 | CRLF1 | c.158G>T (p.Gly53Val) n.410G>T c.92G>T (p.Gly31Val) | gnomAD v4 |
| 19 | g.18599804C>G | CA404852267 | CRLF1 | c.158G>C (p.Gly53Ala) n.410G>C c.92G>C (p.Gly31Ala) | |
| 19 | g.18599804C>T | CA404852268 | CRLF1 | c.158G>A (p.Gly53Asp) n.410G>A c.92G>A (p.Gly31Asp) | gnomAD v4 |
| 19 | g.18599805C>A | CA404852269 | CRLF1 | c.157G>T (p.Gly53Cys) n.409G>T c.91G>T (p.Gly31Cys) | gnomAD v4 |
| 19 | g.18599805C= | CA2326433903 | CRLF1 | c.157G= (p.Gly53=) n.409G= c.91G= (p.Gly31=) | |
| 19 | g.18599805C>G | CA404852270 | CRLF1 | c.157G>C (p.Gly53Arg) n.409G>C c.91G>C (p.Gly31Arg) | |
| 19 | g.18599805C>T | CA9314321 | CRLF1 | c.157G>A (p.Gly53Ser) n.409G>A c.91G>A (p.Gly31Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599806G>A | CA9314322 | CRLF1 | c.156C>T (p.Ile52=) n.408C>T c.90C>T (p.Ile30=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.18599806G>C | CA404852271 | CRLF1 | c.156C>G (p.Ile52Met) n.408C>G c.90C>G (p.Ile30Met) | |
| 19 | g.18599806G= | CA2326433904 | CRLF1 | c.156C= (p.Ile52=) n.408C= c.90C= (p.Ile30=) | |
| 19 | g.18599806G>T | CA506044738 | CRLF1 | c.156C>A (p.Ile52=) n.408C>A c.90C>A (p.Ile30=) | gnomAD v4 |
| 19 | g.18599807A>C | CA404852272 | CRLF1 | c.155T>G (p.Ile52Ser) n.407T>G c.89T>G (p.Ile30Ser) | |
| 19 | g.18599807A>G | CA404852274 | CRLF1 | c.155T>C (p.Ile52Thr) n.407T>C c.89T>C (p.Ile30Thr) | |
| 19 | g.18599807A>T | CA404852273 | CRLF1 | c.155T>A (p.Ile52Asn) n.407T>A c.89T>A (p.Ile30Asn) | |
| 19 | g.18599808T>A | CA9314323 | CRLF1 | c.154A>T (p.Ile52Phe) n.406A>T c.88A>T (p.Ile30Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18599808T>C | CA404852276 | CRLF1 | c.154A>G (p.Ile52Val) n.406A>G c.88A>G (p.Ile30Val) | |
| 19 | g.18599808T>G | CA404852275 | CRLF1 | c.154A>C (p.Ile52Leu) n.406A>C c.88A>C (p.Ile30Leu) | gnomAD v4 |
| 19 | g.18599808T= | CA2326433905 | CRLF1 | c.154A= (p.Ile52=) n.406A= c.88A= (p.Ile30=) | |
| 19 | g.18599808_18599811delinsTGAG | CA2326433906 | CRLF1 | c.151_154delinsCTCA (p.Leu51=) n.403_406delinsCTCA c.85_88delinsCTCA (p.Leu29=) | |
| 19 | g.18599809G>A | CA9314325 | CRLF1 | c.153C>T (p.Leu51=) n.405C>T c.87C>T (p.Leu29=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599809G>C | CA506044740 | CRLF1 | c.153C>G (p.Leu51=) n.405C>G c.87C>G (p.Leu29=) | |
| 19 | g.18599809G= | CA2326433907 | CRLF1 | c.153C= (p.Leu51=) n.405C= c.87C= (p.Leu29=) | |
| 19 | g.18599809G>T | CA506044739 | CRLF1 | c.153C>A (p.Leu51=) n.405C>A c.87C>A (p.Leu29=) | |
| 19 | g.18599809_18599811del | CA9314324 | CRLF1 | c.151_153del (p.Leu51del) n.403_405del c.85_87del (p.Leu29del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599810A>C | CA404852277 | CRLF1 | c.152T>G (p.Leu51Arg) n.404T>G c.86T>G (p.Leu29Arg) | gnomAD v4 |
| 19 | g.18599810A>G | CA404852279 | CRLF1 | c.152T>C (p.Leu51Pro) n.404T>C c.86T>C (p.Leu29Pro) | gnomAD v4 |
| 19 | g.18599810A>T | CA404852278 | CRLF1 | c.152T>A (p.Leu51His) n.404T>A c.86T>A (p.Leu29His) | |
| 19 | g.18599811G>A | CA404852280 | CRLF1 | c.151C>T (p.Leu51Phe) n.403C>T c.85C>T (p.Leu29Phe) | gnomAD v4 |
| 19 | g.18599811G>C | CA404852282 | CRLF1 | c.151C>G (p.Leu51Val) n.403C>G c.85C>G (p.Leu29Val) | |
| 19 | g.18599811G>T | CA404852281 | CRLF1 | c.151C>A (p.Leu51Ile) n.403C>A c.85C>A (p.Leu29Ile) | |
| 19 | g.18599812A>C | CA506044741 | CRLF1 | c.150T>G (p.Leu50=) n.402T>G c.84T>G (p.Leu28=) | |
| 19 | g.18599812A>G | CA506044743 | CRLF1 | c.150T>C (p.Leu50=) n.402T>C c.84T>C (p.Leu28=) | gnomAD v4 |
| 19 | g.18599812A>T | CA506044742 | CRLF1 | c.150T>A (p.Leu50=) n.402T>A c.84T>A (p.Leu28=) | |
| 19 | g.18599813A>C | CA404852283 | CRLF1 | c.149T>G (p.Leu50Arg) n.401T>G c.83T>G (p.Leu28Arg) | |
| 19 | g.18599813A>G | CA404852284 | CRLF1 | c.149T>C (p.Leu50Pro) n.401T>C c.83T>C (p.Leu28Pro) | |
| 19 | g.18599813A>T | CA404852285 | CRLF1 | c.149T>A (p.Leu50His) n.401T>A c.83T>A (p.Leu28His) | |
| 19 | g.18599814G>A | CA404852286 | CRLF1 | c.148C>T (p.Leu50Phe) n.400C>T c.82C>T (p.Leu28Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599814G>C | CA404852287 | CRLF1 | c.148C>G (p.Leu50Val) n.400C>G c.82C>G (p.Leu28Val) | |
| 19 | g.18599814G= | CA2326433908 | CRLF1 | c.148C= (p.Leu50=) n.400C= c.82C= (p.Leu28=) | |
| 19 | g.18599814G>T | CA404852288 | CRLF1 | c.148C>A (p.Leu50Ile) n.400C>A c.82C>A (p.Leu28Ile) | gnomAD v4 |
| 19 | g.18599815C>A | CA506044744 | CRLF1 | c.147G>T (p.Thr49=) n.399G>T c.81G>T (p.Thr27=) | gnomAD v4 |
| 19 | g.18599815C= | CA2326433909 | CRLF1 | c.147G= (p.Thr49=) n.399G= c.81G= (p.Thr27=) | |
| 19 | g.18599815C>G | CA506044745 | CRLF1 | c.147G>C (p.Thr49=) n.399G>C c.81G>C (p.Thr27=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18599815C>T | CA9314326 | CRLF1 | c.147G>A (p.Thr49=) n.399G>A c.81G>A (p.Thr27=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599816G>A | CA9314328 | CRLF1 | c.146C>T (p.Thr49Met) n.398C>T c.80C>T (p.Thr27Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599816G>C | CA9314327 | CRLF1 | c.146C>G (p.Thr49Arg) n.398C>G c.80C>G (p.Thr27Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18599816G= | CA2326433910 | CRLF1 | c.146C= (p.Thr49=) n.398C= c.80C= (p.Thr27=) | |
| 19 | g.18599816G>T | CA404852289 | CRLF1 | c.146C>A (p.Thr49Lys) n.398C>A c.80C>A (p.Thr27Lys) | |
| 19 | g.18599817T>A | CA404852292 | CRLF1 | c.145A>T (p.Thr49Ser) n.397A>T c.79A>T (p.Thr27Ser) | |
| 19 | g.18599817T>C | CA404852291 | CRLF1 | c.145A>G (p.Thr49Ala) n.397A>G c.79A>G (p.Thr27Ala) | |
| 19 | g.18599817T>G | CA404852290 | CRLF1 | c.145A>C (p.Thr49Pro) n.397A>C c.79A>C (p.Thr27Pro) | |
| 19 | g.18599818G>A | CA506044746 | CRLF1 | c.144C>T (p.Pro48=) n.396C>T c.78C>T (p.Pro26=) | |
| 19 | g.18599818G>C | CA506044748 | CRLF1 | c.144C>G (p.Pro48=) n.396C>G c.78C>G (p.Pro26=) | |
| 19 | g.18599818G>T | CA506044747 | CRLF1 | c.144C>A (p.Pro48=) n.396C>A c.78C>A (p.Pro26=) | gnomAD v4 |
| 19 | g.18599819G>A | CA404852293 | CRLF1 | c.143C>T (p.Pro48Leu) n.395C>T c.77C>T (p.Pro26Leu) | gnomAD v4 |
| 19 | g.18599819G>C | CA404852294 | CRLF1 | c.143C>G (p.Pro48Arg) n.395C>G c.77C>G (p.Pro26Arg) | |
| 19 | g.18599819G>T | CA404852295 | CRLF1 | c.143C>A (p.Pro48His) n.395C>A c.77C>A (p.Pro26His) | gnomAD v4 |
| 19 | g.18599820G>A | CA404852296 | CRLF1 | c.142C>T (p.Pro48Ser) n.394C>T c.76C>T (p.Pro26Ser) | dbSNP gnomAD v2 |
| 19 | g.18599820G>C | CA404852297 | CRLF1 | c.142C>G (p.Pro48Ala) n.394C>G c.76C>G (p.Pro26Ala) | |
| 19 | g.18599820G= | CA2326433911 | CRLF1 | c.142C= (p.Pro48=) n.394C= c.76C= (p.Pro26=) | |
| 19 | g.18599820G>T | CA9314329 | CRLF1 | c.142C>A (p.Pro48Thr) n.394C>A c.76C>A (p.Pro26Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599821A>C | CA404852298 | CRLF1 | c.141T>G (p.Asp47Glu) n.393T>G c.75T>G (p.Asp25Glu) | |
| 19 | g.18599821A>G | CA506044749 | CRLF1 | c.141T>C (p.Asp47=) n.393T>C c.75T>C (p.Asp25=) | |
| 19 | g.18599821A>T | CA404852299 | CRLF1 | c.141T>A (p.Asp47Glu) n.393T>A c.75T>A (p.Asp25Glu) | |
| 19 | g.18599822T>A | CA404852300 | CRLF1 | c.140A>T (p.Asp47Val) n.392A>T c.74A>T (p.Asp25Val) | |
| 19 | g.18599822T>C | CA404852301 | CRLF1 | c.140A>G (p.Asp47Gly) n.392A>G c.74A>G (p.Asp25Gly) | |
| 19 | g.18599822T>G | CA404852302 | CRLF1 | c.140A>C (p.Asp47Ala) n.392A>C c.74A>C (p.Asp25Ala) | |
| 19 | g.18599823C>A | CA404852304 | CRLF1 | c.139G>T (p.Asp47Tyr) n.391G>T c.73G>T (p.Asp25Tyr) | gnomAD v4 |
| 19 | g.18599823C= | CA2326433912 | CRLF1 | c.139G= (p.Asp47=) n.391G= c.73G= (p.Asp25=) | |
| 19 | g.18599823C>G | CA404852303 | CRLF1 | c.139G>C (p.Asp47His) n.391G>C c.73G>C (p.Asp25His) | |
| 19 | g.18599823C>T | CA306262450 | CRLF1 | c.139G>A (p.Asp47Asn) n.391G>A c.73G>A (p.Asp25Asn) | dbSNP |
| 19 | g.18599824C>A | CA404852305 | CRLF1 | c.138G>T (p.Gln46His) n.390G>T c.72G>T (p.Gln24His) | gnomAD v4 |
| 19 | g.18599824C= | CA2326433913 | CRLF1 | c.138G= (p.Gln46=) n.390G= c.72G= (p.Gln24=) | |
| 19 | g.18599824C>G | CA404852306 | CRLF1 | c.138G>C (p.Gln46His) n.390G>C c.72G>C (p.Gln24His) | |
| 19 | g.18599824C>T | CA506044750 | CRLF1 | c.138G>A (p.Gln46=) n.390G>A c.72G>A (p.Gln24=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18599825T>A | CA404852307 | CRLF1 | c.137A>T (p.Gln46Leu) n.389A>T c.71A>T (p.Gln24Leu) | |
| 19 | g.18599825T>C | CA404852308 | CRLF1 | c.137A>G (p.Gln46Arg) n.389A>G c.71A>G (p.Gln24Arg) | gnomAD v4 |
| 19 | g.18599825T>G | CA404852309 | CRLF1 | c.137A>C (p.Gln46Pro) n.389A>C c.71A>C (p.Gln24Pro) | |
| 19 | g.18599826G>A | CA404852310 | CRLF1 | c.136C>T (p.Gln46Ter) n.388C>T c.70C>T (p.Gln24Ter) | gnomAD v4 |
| 19 | g.18599826G>C | CA9314330 | CRLF1 | c.136C>G (p.Gln46Glu) n.388C>G c.70C>G (p.Gln24Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18599826G= | CA2326433914 | CRLF1 | c.136C= (p.Gln46=) n.388C= c.70C= (p.Gln24=) | |
| 19 | g.18599826G>T | CA404852311 | CRLF1 | c.136C>A (p.Gln46Lys) n.388C>A c.70C>A (p.Gln24Lys) | gnomAD v4 |
| 19 | g.18599829del | CA2583603785 | CRLF1 | c.136del (p.Gln46ArgfsTer?) n.388del c.70del (p.Gln24ArgfsTer?) | gnomAD v4 |
| 19 | g.18599827G>A | CA506044753 | CRLF1 | c.135C>T (p.Pro45=) n.387C>T c.69C>T (p.Pro23=) | gnomAD v4 |
| 19 | g.18599827G>C | CA506044751 | CRLF1 | c.135C>G (p.Pro45=) n.387C>G c.69C>G (p.Pro23=) | |
| 19 | g.18599827G>T | CA506044752 | CRLF1 | c.135C>A (p.Pro45=) n.387C>A c.69C>A (p.Pro23=) | |
| 19 | g.18599828G>A | CA404852312 | CRLF1 | c.134C>T (p.Pro45Leu) n.386C>T c.68C>T (p.Pro23Leu) | gnomAD v4 |
| 19 | g.18599828G>C | CA404852313 | CRLF1 | c.134C>G (p.Pro45Arg) n.386C>G c.68C>G (p.Pro23Arg) | |
| 19 | g.18599828G>T | CA404852314 | CRLF1 | c.134C>A (p.Pro45His) n.386C>A c.68C>A (p.Pro23His) | |
| 19 | g.18599829G>A | CA404852317 | CRLF1 | c.133C>T (p.Pro45Ser) n.385C>T c.67C>T (p.Pro23Ser) | gnomAD v4 |
| 19 | g.18599829G>C | CA404852316 | CRLF1 | c.133C>G (p.Pro45Ala) n.385C>G c.67C>G (p.Pro23Ala) | |
| 19 | g.18599829G>T | CA404852315 | CRLF1 | c.133C>A (p.Pro45Thr) n.385C>A c.67C>A (p.Pro23Thr) | gnomAD v4 |
| 19 | g.18599830A>C | CA404852318 | CRLF1 | c.132T>G (p.Ser44Arg) n.384T>G c.66T>G (p.Ser22Arg) | |
| 19 | g.18599830A>G | CA506044754 | CRLF1 | c.132T>C (p.Ser44=) n.384T>C c.66T>C (p.Ser22=) | |
| 19 | g.18599830A>T | CA404852319 | CRLF1 | c.132T>A (p.Ser44Arg) n.384T>A c.66T>A (p.Ser22Arg) | gnomAD v4 |
| 19 | g.18599831C>A | CA404852320 | CRLF1 | c.131G>T (p.Ser44Ile) n.383G>T c.65G>T (p.Ser22Ile) | gnomAD v4 |
| 19 | g.18599831C>G | CA404852321 | CRLF1 | c.131G>C (p.Ser44Thr) n.383G>C c.65G>C (p.Ser22Thr) | |
| 19 | g.18599831C>T | CA404852322 | CRLF1 | c.131G>A (p.Ser44Asn) n.383G>A c.65G>A (p.Ser22Asn) | gnomAD v4 |
| 19 | g.18599832T>A | CA404852323 | CRLF1 | c.130A>T (p.Ser44Cys) n.382A>T c.64A>T (p.Ser22Cys) | |
| 19 | g.18599832T>C | CA404852324 | CRLF1 | c.130A>G (p.Ser44Gly) n.382A>G c.64A>G (p.Ser22Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18599832T>G | CA404852325 | CRLF1 | c.130A>C (p.Ser44Arg) n.382A>C c.64A>C (p.Ser22Arg) | |
| 19 | g.18599832T= | CA2326433915 | CRLF1 | c.130A= (p.Ser44=) n.382A= c.64A= (p.Ser22=) | |
| 19 | g.18599833G>A | CA506044755 | CRLF1 | c.129C>T (p.Ile43=) n.381C>T c.63C>T (p.Ile21=) | gnomAD v4 COSMIC |
| 19 | g.18599833G>C | CA404852326 | CRLF1 | c.129C>G (p.Ile43Met) n.381C>G c.63C>G (p.Ile21Met) | |
| 19 | g.18599833G>T | CA506044756 | CRLF1 | c.129C>A (p.Ile43=) n.381C>A c.63C>A (p.Ile21=) | gnomAD v4 |
| 19 | g.18599834A>C | CA404852327 | CRLF1 | c.128T>G (p.Ile43Ser) n.380T>G c.62T>G (p.Ile21Ser) | gnomAD v4 |
| 19 | g.18599834A>G | CA404852328 | CRLF1 | c.128T>C (p.Ile43Thr) n.380T>C c.62T>C (p.Ile21Thr) | |
| 19 | g.18599834A>T | CA404852329 | CRLF1 | c.128T>A (p.Ile43Asn) n.380T>A c.62T>A (p.Ile21Asn) | gnomAD v4 |
| 19 | g.18599835T>A | CA404852332 | CRLF1 | c.127A>T (p.Ile43Phe) n.379A>T c.61A>T (p.Ile21Phe) | gnomAD v4 |
| 19 | g.18599835T>C | CA404852331 | CRLF1 | c.127A>G (p.Ile43Val) n.379A>G c.61A>G (p.Ile21Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18599835T>G | CA404852330 | CRLF1 | c.127A>C (p.Ile43Leu) n.379A>C c.61A>C (p.Ile21Leu) | |
| 19 | g.18599835T= | CA2326433916 | CRLF1 | c.127A= (p.Ile43=) n.379A= c.61A= (p.Ile21=) | |
| 19 | g.18599836C>A | CA506044757 | CRLF1 | c.126G>T (p.Val42=) n.378G>T c.60G>T (p.Val20=) | gnomAD v4 |
| 19 | g.18599836C= | CA2326433917 | CRLF1 | c.126G= (p.Val42=) n.378G= c.60G= (p.Val20=) | |
| 19 | g.18599836C>G | CA506044758 | CRLF1 | c.126G>C (p.Val42=) n.378G>C c.60G>C (p.Val20=) | gnomAD v4 |
| 19 | g.18599836C>T | CA9314332 | CRLF1 | c.126G>A (p.Val42=) n.378G>A c.60G>A (p.Val20=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18599838_18599839dup | CA9314331 | CRLF1 | c.125_126dup (p.Ile43Ter) n.377_378dup c.59_60dup (p.Ile21Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18599837A= | CA2326433918 | CRLF1 | c.125T= (p.Val42=) n.377T= c.59T= (p.Val20=) | |
| 19 | g.18599837A>C | CA404852333 | CRLF1 | c.125T>G (p.Val42Gly) n.377T>G c.59T>G (p.Val20Gly) | |
| 19 | g.18599837A>G | CA404852334 | CRLF1 | c.125T>C (p.Val42Ala) n.377T>C c.59T>C (p.Val20Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18599837A>T | CA404852335 | CRLF1 | c.125T>A (p.Val42Glu) n.377T>A c.59T>A (p.Val20Glu) | |
| 19 | g.18599838C>A | CA404852336 | CRLF1 | c.124G>T (p.Val42Leu) n.376G>T c.58G>T (p.Val20Leu) | gnomAD v4 |
| 19 | g.18599838C>G | CA404852337 | CRLF1 | c.124G>C (p.Val42Leu) n.376G>C c.58G>C (p.Val20Leu) | gnomAD v4 |
| 19 | g.18599838C>T | CA404852338 | CRLF1 | c.124G>A (p.Val42Met) n.376G>A c.58G>A (p.Val20Met) | |
| 19 | g.18599839A>C | CA506044759 | CRLF1 | c.123T>G (p.Ala41=) n.375T>G c.57T>G (p.Ala19=) | |
| 19 | g.18599839A>G | CA506044760 | CRLF1 | c.123T>C (p.Ala41=) n.375T>C c.57T>C (p.Ala19=) | |
| 19 | g.18599839A>T | CA506044761 | CRLF1 | c.123T>A (p.Ala41=) n.375T>A c.57T>A (p.Ala19=) | |
| 19 | g.18599840G>A | CA404852339 | CRLF1 | c.122C>T (p.Ala41Val) n.374C>T c.56C>T (p.Ala19Val) | gnomAD v4 |
| 19 | g.18599840G>C | CA404852341 | CRLF1 | c.122C>G (p.Ala41Gly) n.374C>G c.56C>G (p.Ala19Gly) | |
| 19 | g.18599840G>T | CA404852340 | CRLF1 | c.122C>A (p.Ala41Asp) n.374C>A c.56C>A (p.Ala19Asp) | gnomAD v4 |