Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.31820269_31820289del | CA2577362021 | MYLK2 | c.196_216del (p.Leu66_Ser72del) n.361_381del | |
20 | g.31820269C>A | CA408525111 | MYLK2 | c.196C>A (p.Leu66Met) n.361C>A | |
20 | g.31820269C>G | CA408525112 | MYLK2 | c.196C>G (p.Leu66Val) n.361C>G | |
20 | g.31820269C>T | CA510174125 | MYLK2 | c.196C>T (p.Leu66=) n.361C>T | gnomAD v4 |
20 | g.31820270T>A | CA408525113 | MYLK2 | c.197T>A (p.Leu66Gln) n.362T>A | |
20 | g.31820270T>C | CA408525114 | MYLK2 | c.197T>C (p.Leu66Pro) n.362T>C | gnomAD v4 |
20 | g.31820270T>G | CA408525115 | MYLK2 | c.197T>G (p.Leu66Arg) n.362T>G | |
20 | g.31820271G>A | CA510174126 | MYLK2 | c.198G>A (p.Leu66=) n.363G>A | |
20 | g.31820271G>C | CA510174127 | MYLK2 | c.198G>C (p.Leu66=) n.363G>C | dbSNP gnomAD v4 |
20 | g.31820271G= | CA2360015446 | MYLK2 | c.198G= (p.Leu66=) n.363G= | |
20 | g.31820271G>T | CA510174129 | MYLK2 | c.198G>T (p.Leu66=) n.363G>T | gnomAD v4 |
20 | g.31820272G>A | CA408525116 | MYLK2 | c.199G>A (p.Ala67Thr) n.364G>A | |
20 | g.31820272G>C | CA408525117 | MYLK2 | c.199G>C (p.Ala67Pro) n.364G>C | gnomAD v4 |
20 | g.31820272G>T | CA408525118 | MYLK2 | c.199G>T (p.Ala67Ser) n.364G>T | |
20 | g.31820273C>A | CA408525121 | MYLK2 | c.200C>A (p.Ala67Asp) n.365C>A | |
20 | g.31820273C>G | CA408525120 | MYLK2 | c.200C>G (p.Ala67Gly) n.365C>G | |
20 | g.31820273C>T | CA408525119 | MYLK2 | c.200C>T (p.Ala67Val) n.365C>T | |
20 | g.31820274C>A | CA510174138 | MYLK2 | c.201C>A (p.Ala67=) n.366C>A | |
20 | g.31820274C= | CA2360015447 | MYLK2 | c.201C= (p.Ala67=) n.366C= | |
20 | g.31820274C>G | CA510174139 | MYLK2 | c.201C>G (p.Ala67=) n.366C>G | gnomAD v4 |
20 | g.31820274C>T | CA510174140 | MYLK2 | c.201C>T (p.Ala67=) n.366C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.31820275C>A | CA408525122 | MYLK2 | c.202C>A (p.Gln68Lys) n.367C>A | |
20 | g.31820275C>G | CA408525123 | MYLK2 | c.202C>G (p.Gln68Glu) n.367C>G | |
20 | g.31820275C>T | CA408525124 | MYLK2 | c.202C>T (p.Gln68Ter) n.367C>T | |
20 | g.31820276A>C | CA408525125 | MYLK2 | c.203A>C (p.Gln68Pro) n.368A>C | |
20 | g.31820276A>G | CA408525126 | MYLK2 | c.203A>G (p.Gln68Arg) n.368A>G | |
20 | g.31820276A>T | CA408525127 | MYLK2 | c.203A>T (p.Gln68Leu) n.368A>T | |
20 | g.31820277A= | CA2360015448 | MYLK2 | c.204A= (p.Gln68=) n.369A= | |
20 | g.31820277A>C | CA408525129 | MYLK2 | c.204A>C (p.Gln68His) n.369A>C | |
20 | g.31820277A>G | CA510174145 | MYLK2 | c.204A>G (p.Gln68=) n.369A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.31820277A>T | CA408525128 | MYLK2 | c.204A>T (p.Gln68His) n.369A>T | |
20 | g.31820278C>A | CA408525130 | MYLK2 | c.205C>A (p.Pro69Thr) n.370C>A | |
20 | g.31820278C= | CA2360015449 | MYLK2 | c.205C= (p.Pro69=) n.370C= | |
20 | g.31820278C>G | CA408525131 | MYLK2 | c.205C>G (p.Pro69Ala) n.370C>G | gnomAD v4 |
20 | g.31820278C>T | CA10649493 | MYLK2 | c.205C>T (p.Pro69Ser) n.370C>T | ClinVar dbSNP gnomAD v4 |
20 | g.31820278_31820279insAA | CA2816132812 | MYLK2 | c.205_206insAA (p.Pro69GlnfsTer?) n.370_371insAA | |
20 | g.31820279C>A | CA408525132 | MYLK2 | c.206C>A (p.Pro69His) n.371C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820279C= | CA2360015450 | MYLK2 | c.206C= (p.Pro69=) n.371C= | |
20 | g.31820279C>G | CA408525133 | MYLK2 | c.206C>G (p.Pro69Arg) n.371C>G | |
20 | g.31820279C>T | CA408525134 | MYLK2 | c.206C>T (p.Pro69Leu) n.371C>T | dbSNP gnomAD v4 |
20 | g.31820280C>A | CA510174150 | MYLK2 | c.207C>A (p.Pro69=) n.372C>A | |
20 | g.31820280C>G | CA510174154 | MYLK2 | c.207C>G (p.Pro69=) n.372C>G | |
20 | g.31820280C>T | CA510174151 | MYLK2 | c.207C>T (p.Pro69=) n.372C>T | gnomAD v4 |
20 | g.31820281T>A | CA408525137 | MYLK2 | c.208T>A (p.Ser70Thr) n.373T>A | ClinVar gnomAD v4 |
20 | g.31820281T>C | CA408525135 | MYLK2 | c.208T>C (p.Ser70Pro) n.373T>C | |
20 | g.31820281T>G | CA408525136 | MYLK2 | c.208T>G (p.Ser70Ala) n.373T>G | |
20 | g.31820282C>A | CA408525138 | MYLK2 | c.209C>A (p.Ser70Ter) n.374C>A | |
20 | g.31820282C>G | CA408525139 | MYLK2 | c.209C>G (p.Ser70Ter) n.374C>G | |
20 | g.31820282C>T | CA408525140 | MYLK2 | c.209C>T (p.Ser70Leu) n.374C>T | gnomAD v4 |
20 | g.31820283A>C | CA510174159 | MYLK2 | c.210A>C (p.Ser70=) n.375A>C | |
20 | g.31820283A>G | CA510174161 | MYLK2 | c.210A>G (p.Ser70=) n.375A>G | |
20 | g.31820283A>T | CA510174162 | MYLK2 | c.210A>T (p.Ser70=) n.375A>T | |
20 | g.31820284dup | CA2816132815 | MYLK2 | c.211dup (p.Thr71AsnfsTer2) n.376dup | |
20 | g.31820284A>C | CA408525141 | MYLK2 | c.211A>C (p.Thr71Pro) n.376A>C | |
20 | g.31820284A>G | CA408525142 | MYLK2 | c.211A>G (p.Thr71Ala) n.376A>G | gnomAD v4 |
20 | g.31820284A>T | CA408525143 | MYLK2 | c.211A>T (p.Thr71Ser) n.376A>T | |
20 | g.31820285C>A | CA408525144 | MYLK2 | c.212C>A (p.Thr71Asn) n.377C>A | |
20 | g.31820285C>G | CA408525145 | MYLK2 | c.212C>G (p.Thr71Ser) n.377C>G | |
20 | g.31820285C>T | CA408525146 | MYLK2 | c.212C>T (p.Thr71Ile) n.377C>T | |
20 | g.31820286T>A | CA510174168 | MYLK2 | c.213T>A (p.Thr71=) n.378T>A | |
20 | g.31820286T>C | CA510174170 | MYLK2 | c.213T>C (p.Thr71=) n.378T>C | gnomAD v4 |
20 | g.31820286T>G | CA510174171 | MYLK2 | c.213T>G (p.Thr71=) n.378T>G | |
20 | g.31820287A>C | CA408525147 | MYLK2 | c.214A>C (p.Ser72Arg) n.379A>C | |
20 | g.31820287A>G | CA408525148 | MYLK2 | c.214A>G (p.Ser72Gly) n.379A>G | |
20 | g.31820287A>T | CA408525149 | MYLK2 | c.214A>T (p.Ser72Cys) n.379A>T | |
20 | g.31820288G>A | CA408525152 | MYLK2 | c.215G>A (p.Ser72Asn) n.380G>A | dbSNP gnomAD v2 COSMIC |
20 | g.31820288G>C | CA408525150 | MYLK2 | c.215G>C (p.Ser72Thr) n.380G>C | |
20 | g.31820288G= | CA2360015451 | MYLK2 | c.215G= (p.Ser72=) n.380G= | |
20 | g.31820288G>T | CA408525151 | MYLK2 | c.215G>T (p.Ser72Ile) n.380G>T | gnomAD v4 |
20 | g.31820289C>A | CA408525153 | MYLK2 | c.216C>A (p.Ser72Arg) n.381C>A | COSMIC |
20 | g.31820289C>G | CA408525154 | MYLK2 | c.216C>G (p.Ser72Arg) n.381C>G | |
20 | g.31820289C>T | CA510174177 | MYLK2 | c.216C>T (p.Ser72=) n.381C>T | |
20 | g.31820290A>C | CA408525155 | MYLK2 | c.217A>C (p.Ser73Arg) n.382A>C | |
20 | g.31820290A>G | CA408525156 | MYLK2 | c.217A>G (p.Ser73Gly) n.382A>G | |
20 | g.31820290A>T | CA408525157 | MYLK2 | c.217A>T (p.Ser73Cys) n.382A>T | |
20 | g.31820291G>A | CA408525158 | MYLK2 | c.218G>A (p.Ser73Asn) n.383G>A | |
20 | g.31820291G>C | CA408525159 | MYLK2 | c.218G>C (p.Ser73Thr) n.383G>C | |
20 | g.31820291G>T | CA408525160 | MYLK2 | c.218G>T (p.Ser73Ile) n.383G>T | |
20 | g.31820292C>A | CA408525161 | MYLK2 | c.219C>A (p.Ser73Arg) n.384C>A | |
20 | g.31820292C>G | CA408525162 | MYLK2 | c.219C>G (p.Ser73Arg) n.384C>G | |
20 | g.31820292C>T | CA510174184 | MYLK2 | c.219C>T (p.Ser73=) n.384C>T | gnomAD v4 |
20 | g.31820293C>A | CA408525163 | MYLK2 | c.220C>A (p.Gln74Lys) n.385C>A | |
20 | g.31820293C>G | CA408525164 | MYLK2 | c.220C>G (p.Gln74Glu) n.385C>G | COSMIC |
20 | g.31820293C>T | CA408525165 | MYLK2 | c.220C>T (p.Gln74Ter) n.385C>T | |
20 | g.31820294A= | CA2360015452 | MYLK2 | c.221A= (p.Gln74=) n.386A= | |
20 | g.31820294A>C | CA9802863 | MYLK2 | c.221A>C (p.Gln74Pro) n.386A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.31820294A>G | CA9802862 | MYLK2 | c.221A>G (p.Gln74Arg) n.386A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.31820294A>T | CA408525166 | MYLK2 | c.221A>T (p.Gln74Leu) n.386A>T | |
20 | g.31820295A>C | CA408525167 | MYLK2 | c.222A>C (p.Gln74His) n.387A>C | |
20 | g.31820295A>G | CA510174191 | MYLK2 | c.222A>G (p.Gln74=) n.387A>G | |
20 | g.31820295A>T | CA408525168 | MYLK2 | c.222A>T (p.Gln74His) n.387A>T | |
20 | g.31820296G>A | CA9802864 | MYLK2 | c.223G>A (p.Gly75Ser) n.388G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820296G>C | CA408525169 | MYLK2 | c.223G>C (p.Gly75Arg) n.388G>C | |
20 | g.31820296G= | CA2360015453 | MYLK2 | c.223G= (p.Gly75=) n.388G= | |
20 | g.31820296G>T | CA408525170 | MYLK2 | c.223G>T (p.Gly75Cys) n.388G>T | |
20 | g.31820297G>A | CA408525171 | MYLK2 | c.224G>A (p.Gly75Asp) n.389G>A | ClinVar dbSNP gnomAD v4 COSMIC |
20 | g.31820297G>C | CA408525172 | MYLK2 | c.224G>C (p.Gly75Ala) n.389G>C | |
20 | g.31820297G= | CA2360015454 | MYLK2 | c.224G= (p.Gly75=) n.389G= | |
20 | g.31820297G>T | CA408525173 | MYLK2 | c.224G>T (p.Gly75Val) n.389G>T | |
20 | g.31820298C>A | CA510174197 | MYLK2 | c.225C>A (p.Gly75=) n.390C>A | gnomAD v4 |
20 | g.31820298C>G | CA510174198 | MYLK2 | c.225C>G (p.Gly75=) n.390C>G | |
20 | g.31820298C>T | CA510174199 | MYLK2 | c.225C>T (p.Gly75=) n.390C>T | |
20 | g.31820301del | CA2652342983 | MYLK2 | c.228del (p.Gly78GlufsTer?) n.393del | gnomAD v4 |
20 | g.31820299C>A | CA408525174 | MYLK2 | c.226C>A (p.Pro76Thr) n.391C>A | |
20 | g.31820299C= | CA2360015455 | MYLK2 | c.226C= (p.Pro76=) n.391C= | |
20 | g.31820299C>G | CA408525175 | MYLK2 | c.226C>G (p.Pro76Ala) n.391C>G | |
20 | g.31820299C>T | CA237409 | MYLK2 | c.226C>T (p.Pro76Ser) n.391C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820300C>A | CA408525176 | MYLK2 | c.227C>A (p.Pro76His) n.392C>A | |
20 | g.31820300C= | CA2360015456 | MYLK2 | c.227C= (p.Pro76=) n.392C= | |
20 | g.31820300C>G | CA408525177 | MYLK2 | c.227C>G (p.Pro76Arg) n.392C>G | |
20 | g.31820300C>T | CA9802865 | MYLK2 | c.227C>T (p.Pro76Leu) n.392C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820301C>A | CA313849554 | MYLK2 | c.228C>A (p.Pro76=) n.393C>A | dbSNP COSMIC |
20 | g.31820301C= | CA2360015457 | MYLK2 | c.228C= (p.Pro76=) n.393C= | |
20 | g.31820301C>G | CA510174207 | MYLK2 | c.228C>G (p.Pro76=) n.393C>G | |
20 | g.31820301C>T | CA510174210 | MYLK2 | c.228C>T (p.Pro76=) n.393C>T | |
20 | g.31820301_31820302insCAGCTCATCTCTAGGGGCCATCAAGTGGCCCCAGAGACTCAGTGGGACAAGCATTTGCAAGTTGTTGCCTGGGTGGG | CA920200541 | MYLK2 | c.228_229insCAGCTCATCTCTAGGGGCCATCAAGTGGCCCCAGAGACTCAGTGGGACAAGCATTTGCAAGTTGTTGCCTGGGTGGG (p.Lys77GlnfsTer?) n.393_394insCAGCTCATCTCTAGGGGCCATCAAGTGGCCCCAGAGACTCAGTGGGACAAGCATTTGCAAGTTGTTGCCTGGGTGGG | dbSNP |
20 | g.31820302A= | CA2360015458 | MYLK2 | c.229A= (p.Lys77=) n.394A= | |
20 | g.31820302A>C | CA408525180 | MYLK2 | c.229A>C (p.Lys77Gln) n.394A>C | |
20 | g.31820302A>G | CA408525178 | MYLK2 | c.229A>G (p.Lys77Glu) n.394A>G | dbSNP gnomAD v4 |
20 | g.31820302A>T | CA408525179 | MYLK2 | c.229A>T (p.Lys77Ter) n.394A>T | |
20 | g.31820303A>C | CA408525181 | MYLK2 | c.230A>C (p.Lys77Thr) n.395A>C | |
20 | g.31820303A>G | CA408525182 | MYLK2 | c.230A>G (p.Lys77Arg) n.395A>G | gnomAD v4 |
20 | g.31820303A>T | CA408525183 | MYLK2 | c.230A>T (p.Lys77Ile) n.395A>T | |
20 | g.31820304A>C | CA408525184 | MYLK2 | c.231A>C (p.Lys77Asn) n.396A>C | |
20 | g.31820304A>G | CA510174216 | MYLK2 | c.231A>G (p.Lys77=) n.396A>G | |
20 | g.31820304A>T | CA408525185 | MYLK2 | c.231A>T (p.Lys77Asn) n.396A>T | |
20 | g.31820304_31820305insCACACCCAACACA | CA2816132823 | MYLK2 | c.231_232insCACACCCAACACA (p.Gly78HisfsTer8) n.396_397insCACACCCAACACA | |
20 | g.31820305G>A | CA408525186 | MYLK2 | c.232G>A (p.Gly78Arg) n.397G>A | dbSNP |
20 | g.31820305G>C | CA408525187 | MYLK2 | c.232G>C (p.Gly78Arg) n.397G>C | |
20 | g.31820305G>T | CA408525188 | MYLK2 | c.232G>T (p.Gly78Ter) n.397G>T | |
20 | g.31820306G>A | CA408525189 | MYLK2 | c.233G>A (p.Gly78Glu) n.398G>A | dbSNP COSMIC |
20 | g.31820306G>C | CA408525190 | MYLK2 | c.233G>C (p.Gly78Ala) n.398G>C | |
20 | g.31820306G= | CA2360015459 | MYLK2 | c.233G= (p.Gly78=) n.398G= | |
20 | g.31820306G>T | CA408525191 | MYLK2 | c.233G>T (p.Gly78Val) n.398G>T | |
20 | g.31820307A>C | CA510174224 | MYLK2 | c.234A>C (p.Gly78=) n.399A>C | |
20 | g.31820307A>G | CA510174226 | MYLK2 | c.234A>G (p.Gly78=) n.399A>G | dbSNP |
20 | g.31820307A>T | CA510174229 | MYLK2 | c.234A>T (p.Gly78=) n.399A>T | |
20 | g.31820308G>A | CA408525194 | MYLK2 | c.235G>A (p.Glu79Lys) n.400G>A | |
20 | g.31820308G>C | CA408525192 | MYLK2 | c.235G>C (p.Glu79Gln) n.400G>C | |
20 | g.31820308G>T | CA408525193 | MYLK2 | c.235G>T (p.Glu79Ter) n.400G>T | |
20 | g.31820309A>C | CA408525195 | MYLK2 | c.236A>C (p.Glu79Ala) n.401A>C | |
20 | g.31820309A>G | CA408525196 | MYLK2 | c.236A>G (p.Glu79Gly) n.401A>G | |
20 | g.31820309A>T | CA408525197 | MYLK2 | c.236A>T (p.Glu79Val) n.401A>T | |
20 | g.31820310G>A | CA510174234 | MYLK2 | c.237G>A (p.Glu79=) n.402G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
20 | g.31820310G>C | CA408525198 | MYLK2 | c.237G>C (p.Glu79Asp) n.402G>C | |
20 | g.31820310G= | CA2360015460 | MYLK2 | c.237G= (p.Glu79=) n.402G= | |
20 | g.31820310G>T | CA408525199 | MYLK2 | c.237G>T (p.Glu79Asp) n.402G>T | |
20 | g.31820311G>A | CA408525200 | MYLK2 | c.238G>A (p.Gly80Ser) n.403G>A | |
20 | g.31820311G>C | CA408525201 | MYLK2 | c.238G>C (p.Gly80Arg) n.403G>C | |
20 | g.31820311G>T | CA408525202 | MYLK2 | c.238G>T (p.Gly80Cys) n.403G>T | gnomAD v4 COSMIC |
20 | g.31820312G>A | CA408525203 | MYLK2 | c.239G>A (p.Gly80Asp) n.404G>A | gnomAD v4 |
20 | g.31820312G>C | CA408525204 | MYLK2 | c.239G>C (p.Gly80Ala) n.404G>C | |
20 | g.31820312G= | CA2360015461 | MYLK2 | c.239G= (p.Gly80=) n.404G= | |
20 | g.31820312G>T | CA9802866 | MYLK2 | c.239G>T (p.Gly80Val) n.404G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.31820313T>A | CA510174247 | MYLK2 | c.240T>A (p.Gly80=) n.405T>A | |
20 | g.31820313T>C | CA9802867 | MYLK2 | c.240T>C (p.Gly80=) n.405T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820313T>G | CA510174248 | MYLK2 | c.240T>G (p.Gly80=) n.405T>G | ClinVar |
20 | g.31820313T= | CA2360015462 | MYLK2 | c.240T= (p.Gly80=) n.405T= | |
20 | g.31820314G>A | CA408525205 | MYLK2 | c.241G>A (p.Asp81Asn) n.406G>A | dbSNP |
20 | g.31820314G>C | CA408525207 | MYLK2 | c.241G>C (p.Asp81His) n.406G>C | |
20 | g.31820314G>T | CA408525206 | MYLK2 | c.241G>T (p.Asp81Tyr) n.406G>T | |
20 | g.31820315A>C | CA408525208 | MYLK2 | c.242A>C (p.Asp81Ala) n.407A>C | dbSNP |
20 | g.31820315A>G | CA408525210 | MYLK2 | c.242A>G (p.Asp81Gly) n.407A>G | |
20 | g.31820315A>T | CA408525209 | MYLK2 | c.242A>T (p.Asp81Val) n.407A>T | |
20 | g.31820316C>A | CA408525211 | MYLK2 | c.243C>A (p.Asp81Glu) n.408C>A | |
20 | g.31820316C= | CA2360015463 | MYLK2 | c.243C= (p.Asp81=) n.408C= | |
20 | g.31820316C>G | CA9802868 | MYLK2 | c.243C>G (p.Asp81Glu) n.408C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820316C>T | CA9802869 | MYLK2 | c.243C>T (p.Asp81=) n.408C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.31820316_31820318delinsCAG | CA2360015464 | MYLK2 | c.243_245delinsCAG (p.Asp81=) n.408_410delinsCAG | |
20 | g.31820317A>C | CA510174264 | MYLK2 | c.244A>C (p.Arg82=) n.409A>C | |
20 | g.31820317A>G | CA408525212 | MYLK2 | c.244A>G (p.Arg82Gly) n.409A>G | |
20 | g.31820317A>T | CA408525213 | MYLK2 | c.244A>T (p.Arg82Trp) n.409A>T | |
20 | g.31820317_31820318del | CA9802870 | MYLK2 | c.244_245del (p.Arg82GlyfsTer23) n.409_410del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.31820318G>A | CA408525214 | MYLK2 | c.245G>A (p.Arg82Lys) n.410G>A | COSMIC |
20 | g.31820318G>C | CA408525215 | MYLK2 | c.245G>C (p.Arg82Thr) n.410G>C | |
20 | g.31820318G>T | CA408525216 | MYLK2 | c.245G>T (p.Arg82Met) n.410G>T | |
20 | g.31820319G>A | CA510174276 | MYLK2 | c.246G>A (p.Arg82=) n.411G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
20 | g.31820319G>C | CA408525217 | MYLK2 | c.246G>C (p.Arg82Ser) n.411G>C | |
20 | g.31820319G= | CA2360015465 | MYLK2 | c.246G= (p.Arg82=) n.411G= | |
20 | g.31820319G>T | CA408525218 | MYLK2 | c.246G>T (p.Arg82Ser) n.411G>T | |
20 | g.31820320G>A | CA408525219 | MYLK2 | c.247G>A (p.Gly83Ser) n.412G>A | |
20 | g.31820320G>C | CA408525220 | MYLK2 | c.247G>C (p.Gly83Arg) n.412G>C | |
20 | g.31820320G= | CA2360015466 | MYLK2 | c.247G= (p.Gly83=) n.412G= | |
20 | g.31820320G>T | CA408525221 | MYLK2 | c.247G>T (p.Gly83Cys) n.412G>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.31820321G>A | CA313849569 | MYLK2 | c.248G>A (p.Gly83Asp) n.413G>A | dbSNP |
20 | g.31820321G>C | CA408525223 | MYLK2 | c.248G>C (p.Gly83Ala) n.413G>C | |
20 | g.31820321G= | CA2360015467 | MYLK2 | c.248G= (p.Gly83=) n.413G= | |
20 | g.31820321G>T | CA408525222 | MYLK2 | c.248G>T (p.Gly83Val) n.413G>T | dbSNP gnomAD v4 |
20 | g.31820322C>A | CA9802872 | MYLK2 | c.249C>A (p.Gly83=) n.414C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.31820322C= | CA2360015468 | MYLK2 | c.249C= (p.Gly83=) n.414C= | |
20 | g.31820322C>G | CA510174518 | MYLK2 | c.249C>G (p.Gly83=) n.414C>G | |
20 | g.31820322C>T | CA9802871 | MYLK2 | c.249C>T (p.Gly83=) n.414C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820322_31820323delinsCG | CA2360015469 | MYLK2 | c.249_250delinsCG (p.Gly83=) n.414_415delinsCG | |
20 | g.31820323G>A | CA9802873 | MYLK2 | c.250G>A (p.Gly84Arg) n.415G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.31820323G>C | CA408525224 | MYLK2 | c.250G>C (p.Gly84Arg) n.415G>C | gnomAD v4 |
20 | g.31820323G= | CA2360015470 | MYLK2 | c.250G= (p.Gly84=) n.415G= | |
20 | g.31820323G>T | CA408525225 | MYLK2 | c.250G>T (p.Gly84Trp) n.415G>T | dbSNP COSMIC |
20 | g.31820328dup | CA2816132836 | MYLK2 | c.255dup (p.Pro86AlafsTer20) n.420dup | |
20 | g.31820327_31820328dup | CA2816132837 | MYLK2 | c.254_255dup (p.Pro86GlyfsTer?) n.419_420dup | |
20 | g.31820328del | CA635267863 | MYLK2 | c.255del (p.Ala87ArgfsTer?) n.420del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820324G>A | CA408525226 | MYLK2 | c.251G>A (p.Gly84Glu) n.416G>A | gnomAD v4 |
20 | g.31820324G>C | CA408525227 | MYLK2 | c.251G>C (p.Gly84Ala) n.416G>C | |
20 | g.31820324G>T | CA408525228 | MYLK2 | c.251G>T (p.Gly84Val) n.416G>T | |
20 | g.31820325G>A | CA510174524 | MYLK2 | c.252G>A (p.Gly84=) n.417G>A | ClinVar |
20 | g.31820325G>C | CA510174522 | MYLK2 | c.252G>C (p.Gly84=) n.417G>C | |
20 | g.31820325G>T | CA510174523 | MYLK2 | c.252G>T (p.Gly84=) n.417G>T | |
20 | g.31820326G>A | CA408525229 | MYLK2 | c.253G>A (p.Gly85Arg) n.418G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.31820326G>C | CA408525230 | MYLK2 | c.253G>C (p.Gly85Arg) n.418G>C | |
20 | g.31820326G= | CA2360015471 | MYLK2 | c.253G= (p.Gly85=) n.418G= | |
20 | g.31820326G>T | CA408525231 | MYLK2 | c.253G>T (p.Gly85Trp) n.418G>T | |
20 | g.31820327G>A | CA185751 | MYLK2 | c.254G>A (p.Gly85Glu) n.419G>A | ClinVar dbSNP |
20 | g.31820327G>C | CA408525233 | MYLK2 | c.254G>C (p.Gly85Ala) n.419G>C | |
20 | g.31820327G= | CA2360015472 | MYLK2 | c.254G= (p.Gly85=) n.419G= | |
20 | g.31820327G>T | CA408525232 | MYLK2 | c.254G>T (p.Gly85Val) n.419G>T | |
20 | g.31820328G>A | CA510174532 | MYLK2 | c.255G>A (p.Gly85=) n.420G>A | ClinVar gnomAD v4 |
20 | g.31820328G>C | CA510174533 | MYLK2 | c.255G>C (p.Gly85=) n.420G>C | ClinVar |
20 | g.31820328G= | CA2360015473 | MYLK2 | c.255G= (p.Gly85=) n.420G= | |
20 | g.31820328G>T | CA510174535 | MYLK2 | c.255G>T (p.Gly85=) n.420G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.31820329C>A | CA408525234 | MYLK2 | c.256C>A (p.Pro86Thr) n.421C>A | |
20 | g.31820329C= | CA2360015474 | MYLK2 | c.256C= (p.Pro86=) n.421C= | |
20 | g.31820329C>G | CA9802874 | MYLK2 | c.256C>G (p.Pro86Ala) n.421C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.31820329C>T | CA408525235 | MYLK2 | c.256C>T (p.Pro86Ser) n.421C>T | dbSNP COSMIC |
20 | g.31820330C>A | CA408525236 | MYLK2 | c.257C>A (p.Pro86His) n.422C>A | COSMIC |
20 | g.31820330C>G | CA408525237 | MYLK2 | c.257C>G (p.Pro86Arg) n.422C>G | |
20 | g.31820330C>T | CA408525238 | MYLK2 | c.257C>T (p.Pro86Leu) n.422C>T | |
20 | g.31820331C>A | CA9802876 | MYLK2 | c.258C>A (p.Pro86=) n.423C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820331C= | CA2360015475 | MYLK2 | c.258C= (p.Pro86=) n.423C= | |
20 | g.31820331C>G | CA510174538 | MYLK2 | c.258C>G (p.Pro86=) n.423C>G | |
20 | g.31820331C>T | CA9802875 | MYLK2 | c.258C>T (p.Pro86=) n.423C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820332G>A | CA9802877 | MYLK2 | c.259G>A (p.Ala87Thr) n.424G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.31820332G>C | CA408525239 | MYLK2 | c.259G>C (p.Ala87Pro) n.424G>C | |
20 | g.31820332G= | CA2360015476 | MYLK2 | c.259G= (p.Ala87=) n.424G= | |
20 | g.31820332G>T | CA408525240 | MYLK2 | c.259G>T (p.Ala87Ser) n.424G>T | |
20 | g.31820333C>A | CA408525242 | MYLK2 | c.260C>A (p.Ala87Glu) n.425C>A | |
20 | g.31820333C= | CA2360015477 | MYLK2 | c.260C= (p.Ala87=) n.425C= | |
20 | g.31820333C>G | CA408525241 | MYLK2 | c.260C>G (p.Ala87Gly) n.425C>G | |
20 | g.31820333C>T | CA116734 | MYLK2 | c.260C>T (p.Ala87Val) n.425C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820334G>A | CA9802878 | MYLK2 | c.261G>A (p.Ala87=) n.426G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820334G>C | CA510174549 | MYLK2 | c.261G>C (p.Ala87=) n.426G>C | |
20 | g.31820334G= | CA2360015478 | MYLK2 | c.261G= (p.Ala87=) n.426G= | |
20 | g.31820334G>T | CA510174554 | MYLK2 | c.261G>T (p.Ala87=) n.426G>T | |
20 | g.31820335G>A | CA408525243 | MYLK2 | c.262G>A (p.Glu88Lys) n.427G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.31820335G>C | CA408525244 | MYLK2 | c.262G>C (p.Glu88Gln) n.427G>C | |
20 | g.31820335G= | CA2360015479 | MYLK2 | c.262G= (p.Glu88=) n.427G= | |
20 | g.31820335G>T | CA408525245 | MYLK2 | c.262G>T (p.Glu88Ter) n.427G>T | |
20 | g.31820336A>C | CA408525246 | MYLK2 | c.263A>C (p.Glu88Ala) n.428A>C | |
20 | g.31820336A>G | CA408525247 | MYLK2 | c.263A>G (p.Glu88Gly) n.428A>G | |
20 | g.31820336A>T | CA408525248 | MYLK2 | c.263A>T (p.Glu88Val) n.428A>T | |
20 | g.31820337G>A | CA510174558 | MYLK2 | c.264G>A (p.Glu88=) n.429G>A | dbSNP gnomAD v4 |
20 | g.31820337G>C | CA408525249 | MYLK2 | c.264G>C (p.Glu88Asp) n.429G>C | dbSNP |
20 | g.31820337G= | CA2360015480 | MYLK2 | c.264G= (p.Glu88=) n.429G= | |
20 | g.31820337G>T | CA408525250 | MYLK2 | c.264G>T (p.Glu88Asp) n.429G>T | |
20 | g.31820338G>A | CA408525251 | MYLK2 | c.265G>A (p.Gly89Ser) n.430G>A | |
20 | g.31820338G>C | CA408525252 | MYLK2 | c.265G>C (p.Gly89Arg) n.430G>C | |
20 | g.31820338G>T | CA408525253 | MYLK2 | c.265G>T (p.Gly89Cys) n.430G>T | ClinVar |
20 | g.31820339G>A | CA138525 | MYLK2 | c.266G>A (p.Gly89Asp) n.431G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820339G>C | CA408525255 | MYLK2 | c.266G>C (p.Gly89Ala) n.431G>C | |
20 | g.31820339G= | CA2360015481 | MYLK2 | c.266G= (p.Gly89=) n.431G= | |
20 | g.31820339G>T | CA408525254 | MYLK2 | c.266G>T (p.Gly89Val) n.431G>T | gnomAD v4 |
20 | g.31820340C>A | CA510174560 | MYLK2 | c.267C>A (p.Gly89=) n.432C>A | |
20 | g.31820340C= | CA2360015482 | MYLK2 | c.267C= (p.Gly89=) n.432C= | |
20 | g.31820340C>G | CA510174562 | MYLK2 | c.267C>G (p.Gly89=) n.432C>G | |
20 | g.31820340C>T | CA9802879 | MYLK2 | c.267C>T (p.Gly89=) n.432C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820341A= | CA2360015483 | MYLK2 | c.268A= (p.Ser90=) n.433A= | |
20 | g.31820341A>C | CA408525256 | MYLK2 | c.268A>C (p.Ser90Arg) n.433A>C | gnomAD v4 |
20 | g.31820341A>G | CA9802880 | MYLK2 | c.268A>G (p.Ser90Gly) n.433A>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
20 | g.31820341A>T | CA408525257 | MYLK2 | c.268A>T (p.Ser90Cys) n.433A>T | |
20 | g.31820342G>A | CA408525258 | MYLK2 | c.269G>A (p.Ser90Asn) n.434G>A | |
20 | g.31820342G>C | CA408525259 | MYLK2 | c.269G>C (p.Ser90Thr) n.434G>C | |
20 | g.31820342G>T | CA408525260 | MYLK2 | c.269G>T (p.Ser90Ile) n.434G>T | dbSNP |
20 | g.31820343T>A | CA408525261 | MYLK2 | c.270T>A (p.Ser90Arg) n.435T>A | dbSNP |
20 | g.31820343T>C | CA510174566 | MYLK2 | c.270T>C (p.Ser90=) n.435T>C | |
20 | g.31820343T>G | CA408525262 | MYLK2 | c.270T>G (p.Ser90Arg) n.435T>G | |
20 | g.31820344G>A | CA408525263 | MYLK2 | c.271G>A (p.Ala91Thr) n.436G>A | |
20 | g.31820344G>C | CA408525264 | MYLK2 | c.271G>C (p.Ala91Pro) n.436G>C | |
20 | g.31820344G= | CA2360015484 | MYLK2 | c.271G= (p.Ala91=) n.436G= | |
20 | g.31820344G>T | CA313849607 | MYLK2 | c.271G>T (p.Ala91Ser) n.436G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820345C>A | CA408525265 | MYLK2 | c.272C>A (p.Ala91Asp) n.437C>A | |
20 | g.31820345C>G | CA408525266 | MYLK2 | c.272C>G (p.Ala91Gly) n.437C>G | |
20 | g.31820345C>T | CA408525267 | MYLK2 | c.272C>T (p.Ala91Val) n.437C>T | dbSNP |
20 | g.31820346T>A | CA510174568 | MYLK2 | c.273T>A (p.Ala91=) n.438T>A | dbSNP |
20 | g.31820346T>C | CA9802881 | MYLK2 | c.273T>C (p.Ala91=) n.438T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.31820346T>G | CA510174569 | MYLK2 | c.273T>G (p.Ala91=) n.438T>G | |
20 | g.31820346T= | CA2360015485 | MYLK2 | c.273T= (p.Ala91=) n.438T= | |
20 | g.31820346_31820347delinsTG | CA2360015486 | MYLK2 | c.273_274delinsTG (p.Ala91=) n.438_439delinsTG | |
20 | g.31820347G>A | CA408525268 | MYLK2 | c.274G>A (p.Gly92Arg) n.439G>A | dbSNP gnomAD v4 |
20 | g.31820347G>C | CA408525269 | MYLK2 | c.274G>C (p.Gly92Arg) n.439G>C | |
20 | g.31820347G>T | CA408525270 | MYLK2 | c.274G>T (p.Gly92Trp) n.439G>T | |
20 | g.31820349del | CA743587231 | MYLK2 | c.276del (p.Pro94ArgfsTer?) n.441del | dbSNP |
20 | g.31820348G>A | CA408525271 | MYLK2 | c.275G>A (p.Gly92Glu) n.440G>A | gnomAD v4 |
20 | g.31820348G>C | CA408525272 | MYLK2 | c.275G>C (p.Gly92Ala) n.440G>C | |
20 | g.31820348G>T | CA408525273 | MYLK2 | c.275G>T (p.Gly92Val) n.440G>T | |
20 | g.31820349G>A | CA510174570 | MYLK2 | c.276G>A (p.Gly92=) n.441G>A | dbSNP gnomAD v4 |
20 | g.31820349G>C | CA510174571 | MYLK2 | c.276G>C (p.Gly92=) n.441G>C | |
20 | g.31820349G= | CA2360015487 | MYLK2 | c.276G= (p.Gly92=) n.441G= | |
20 | g.31820349G>T | CA510174573 | MYLK2 | c.276G>T (p.Gly92=) n.441G>T | gnomAD v4 COSMIC |
20 | g.31820350C>A | CA138528 | MYLK2 | c.277C>A (p.Pro93Thr) n.442C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.31820350C= | CA2360015488 | MYLK2 | c.277C= (p.Pro93=) n.442C= | |
20 | g.31820350C>G | CA408525274 | MYLK2 | c.277C>G (p.Pro93Ala) n.442C>G | dbSNP |
20 | g.31820350C>T | CA9802882 | MYLK2 | c.277C>T (p.Pro93Ser) n.442C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.31820354dup | CA2842188568 | MYLK2 | c.281dup (p.Ala95GlyfsTer11) n.446dup | |
20 | g.31820354del | CA2816132847 | MYLK2 | c.281del (p.Pro94ArgfsTer?) n.446del | |
20 | g.31820351C>A | CA408525275 | MYLK2 | c.278C>A (p.Pro93His) n.443C>A | |
20 | g.31820351C= | CA2360015489 | MYLK2 | c.278C= (p.Pro93=) n.443C= | |
20 | g.31820351C>G | CA408525276 | MYLK2 | c.278C>G (p.Pro93Arg) n.443C>G | |
20 | g.31820351C>T | CA408525277 | MYLK2 | c.278C>T (p.Pro93Leu) n.443C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.31820352C>A | CA510174576 | MYLK2 | c.279C>A (p.Pro93=) n.444C>A | |
20 | g.31820352C= | CA2360015490 | MYLK2 | c.279C= (p.Pro93=) n.444C= | |
20 | g.31820352C>G | CA510174577 | MYLK2 | c.279C>G (p.Pro93=) n.444C>G | ClinVar |
20 | g.31820352C>T | CA9802883 | MYLK2 | c.279C>T (p.Pro93=) n.444C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820353C>A | CA408525280 | MYLK2 | c.280C>A (p.Pro94Thr) n.445C>A | |
20 | g.31820353C>G | CA408525279 | MYLK2 | c.280C>G (p.Pro94Ala) n.445C>G | |
20 | g.31820353C>T | CA408525278 | MYLK2 | c.280C>T (p.Pro94Ser) n.445C>T | |
20 | g.31820354C>A | CA408525281 | MYLK2 | c.281C>A (p.Pro94Gln) n.446C>A | |
20 | g.31820354C= | CA2360015491 | MYLK2 | c.281C= (p.Pro94=) n.446C= | |
20 | g.31820354C>G | CA277683 | MYLK2 | c.281C>G (p.Pro94Arg) n.446C>G | ClinVar dbSNP |
20 | g.31820354C>T | CA335247 | MYLK2 | c.281C>T (p.Pro94Leu) n.446C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820355G>A | CA9802884 | MYLK2 | c.282G>A (p.Pro94=) n.447G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820355G>C | CA510174579 | MYLK2 | c.282G>C (p.Pro94=) n.447G>C | |
20 | g.31820355G= | CA2360015492 | MYLK2 | c.282G= (p.Pro94=) n.447G= | |
20 | g.31820355G>T | CA510174580 | MYLK2 | c.282G>T (p.Pro94=) n.447G>T | |
20 | g.31820356G>A | CA408525282 | MYLK2 | c.283G>A (p.Ala95Thr) n.448G>A | |
20 | g.31820356G>C | CA408525283 | MYLK2 | c.283G>C (p.Ala95Pro) n.448G>C | dbSNP |
20 | g.31820356G>T | CA408525284 | MYLK2 | c.283G>T (p.Ala95Ser) n.448G>T | gnomAD v4 |
20 | g.31820357C>A | CA116736 | MYLK2 | c.284C>A (p.Ala95Glu) n.449C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820357C= | CA2360015493 | MYLK2 | c.284C= (p.Ala95=) n.449C= | |
20 | g.31820357C>G | CA408525285 | MYLK2 | c.284C>G (p.Ala95Gly) n.449C>G | |
20 | g.31820357C>T | CA408525286 | MYLK2 | c.284C>T (p.Ala95Val) n.449C>T | |
20 | g.31820358A>C | CA510174584 | MYLK2 | c.285A>C (p.Ala95=) n.450A>C | gnomAD v4 |
20 | g.31820358A>G | CA510174585 | MYLK2 | c.285A>G (p.Ala95=) n.450A>G | gnomAD v4 |
20 | g.31820358A>T | CA510174586 | MYLK2 | c.285A>T (p.Ala95=) n.450A>T | |
20 | g.31820359G>A | CA9802885 | MYLK2 | c.286G>A (p.Ala96Thr) n.451G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.31820359G>C | CA408525287 | MYLK2 | c.286G>C (p.Ala96Pro) n.451G>C | |
20 | g.31820359G= | CA2360015494 | MYLK2 | c.286G= (p.Ala96=) n.451G= | |
20 | g.31820359G>T | CA408525288 | MYLK2 | c.286G>T (p.Ala96Ser) n.451G>T | |
20 | g.31820360C>A | CA408525290 | MYLK2 | c.287C>A (p.Ala96Asp) n.452C>A | |
20 | g.31820360C= | CA2360015495 | MYLK2 | c.287C= (p.Ala96=) n.452C= | |
20 | g.31820360C>G | CA408525289 | MYLK2 | c.287C>G (p.Ala96Gly) n.452C>G | |
20 | g.31820360C>T | CA9802886 | MYLK2 | c.287C>T (p.Ala96Val) n.452C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820361C>A | CA510174588 | MYLK2 | c.288C>A (p.Ala96=) n.453C>A | |
20 | g.31820361C= | CA2360015496 | MYLK2 | c.288C= (p.Ala96=) n.453C= | |
20 | g.31820361C>G | CA510174589 | MYLK2 | c.288C>G (p.Ala96=) n.453C>G | dbSNP gnomAD v4 |
20 | g.31820361C>T | CA9802887 | MYLK2 | c.288C>T (p.Ala96=) n.453C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820362C>A | CA408525291 | MYLK2 | c.289C>A (p.Leu97Met) n.454C>A | |
20 | g.31820362C>G | CA408525292 | MYLK2 | c.289C>G (p.Leu97Val) n.454C>G | |
20 | g.31820362C>T | CA510174590 | MYLK2 | c.289C>T (p.Leu97=) n.454C>T | |
20 | g.31820363T>A | CA408525293 | MYLK2 | c.290T>A (p.Leu97Gln) n.455T>A | gnomAD v4 |
20 | g.31820363T>C | CA408525294 | MYLK2 | c.290T>C (p.Leu97Pro) n.455T>C | |
20 | g.31820363T>G | CA408525295 | MYLK2 | c.290T>G (p.Leu97Arg) n.455T>G | |
20 | g.31820364G>A | CA510174593 | MYLK2 | c.291G>A (p.Leu97=) n.456G>A | |
20 | g.31820364G>C | CA510174596 | MYLK2 | c.291G>C (p.Leu97=) n.456G>C | |
20 | g.31820364G>T | CA510174595 | MYLK2 | c.291G>T (p.Leu97=) n.456G>T | |
20 | g.31820365C>A | CA408525296 | MYLK2 | c.292C>A (p.Pro98Thr) n.457C>A | |
20 | g.31820365C>G | CA408525297 | MYLK2 | c.292C>G (p.Pro98Ala) n.457C>G | |
20 | g.31820365C>T | CA408525298 | MYLK2 | c.292C>T (p.Pro98Ser) n.457C>T | gnomAD v4 COSMIC |
20 | g.31820368del | CA2652342984 | MYLK2 | c.295del (p.Gln99SerfsTer?) n.460del | gnomAD v4 |
20 | g.31820366C>A | CA408525299 | MYLK2 | c.293C>A (p.Pro98His) n.458C>A | |
20 | g.31820366C= | CA2360015497 | MYLK2 | c.293C= (p.Pro98=) n.458C= | |
20 | g.31820366C>G | CA408525300 | MYLK2 | c.293C>G (p.Pro98Arg) n.458C>G | gnomAD v4 |
20 | g.31820366C>T | CA9802888 | MYLK2 | c.293C>T (p.Pro98Leu) n.458C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.31820367C>A | CA510174598 | MYLK2 | c.294C>A (p.Pro98=) n.459C>A | |
20 | g.31820367C= | CA2360015498 | MYLK2 | c.294C= (p.Pro98=) n.459C= | |
20 | g.31820367C>G | CA510174599 | MYLK2 | c.294C>G (p.Pro98=) n.459C>G | |
20 | g.31820367C>T | CA9802889 | MYLK2 | c.294C>T (p.Pro98=) n.459C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820368C>A | CA408525302 | MYLK2 | c.295C>A (p.Gln99Lys) n.460C>A | |
20 | g.31820368C>G | CA408525303 | MYLK2 | c.295C>G (p.Gln99Glu) n.460C>G | |
20 | g.31820368C>T | CA408525301 | MYLK2 | c.295C>T (p.Gln99Ter) n.460C>T | |
20 | g.31820369A>C | CA408525305 | MYLK2 | c.296A>C (p.Gln99Pro) n.461A>C | |
20 | g.31820369A>G | CA408525304 | MYLK2 | c.296A>G (p.Gln99Arg) n.461A>G | gnomAD v4 |
20 | g.31820369A>T | CA408525306 | MYLK2 | c.296A>T (p.Gln99Leu) n.461A>T |