Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47221688A= | CA2262577583 | MYL4 | c.320A= (p.Asn107=) c.31A= c.*106A= (n.*106A=) c.413A= (p.Asn138=) c.314-44A= (n.314-44A=) c.110A= (p.Asn37=) | |
17 | g.47221688A>C | CA400022166 | MYL4 | c.320A>C (p.Asn107Thr) c.31A>C c.*106A>C (n.*106A>C) c.413A>C (p.Asn138Thr) c.314-44A>C (n.314-44A>C) c.110A>C (p.Asn37Thr) | dbSNP |
17 | g.47221688A>G | CA400022167 | MYL4 | c.320A>G (p.Asn107Ser) c.31A>G c.*106A>G (n.*106A>G) c.413A>G (p.Asn138Ser) c.314-44A>G (n.314-44A>G) c.110A>G (p.Asn37Ser) | |
17 | g.47221688A>T | CA400022168 | MYL4 | c.320A>T (p.Asn107Ile) c.31A>T c.*106A>T (n.*106A>T) c.413A>T (p.Asn138Ile) c.314-44A>T (n.314-44A>T) c.110A>T (p.Asn37Ile) | |
17 | g.47221689T>A | CA400022169 | MYL4 | c.321T>A (p.Asn107Lys) c.32T>A c.*107T>A (n.*107T>A) c.414T>A (p.Asn138Lys) c.314-43T>A (n.314-43T>A) c.111T>A (p.Asn37Lys) | |
17 | g.47221689T>C | CA500433845 | MYL4 | c.321T>C (p.Asn107=) c.32T>C c.*107T>C (n.*107T>C) c.414T>C (p.Asn138=) c.314-43T>C (n.314-43T>C) c.111T>C (p.Asn37=) | gnomAD v4 |
17 | g.47221689T>G | CA400022170 | MYL4 | c.321T>G (p.Asn107Lys) c.32T>G c.*107T>G (n.*107T>G) c.414T>G (p.Asn138Lys) c.314-43T>G (n.314-43T>G) c.111T>G (p.Asn37Lys) | |
17 | g.47221690G>A | CA400022171 | MYL4 | c.322G>A (p.Val108Ile) c.33G>A c.*108G>A (n.*108G>A) c.415G>A (p.Val139Ile) c.314-42G>A (n.314-42G>A) c.112G>A (p.Val38Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47221690G>C | CA400022173 | MYL4 | c.322G>C (p.Val108Leu) c.33G>C c.*108G>C (n.*108G>C) c.415G>C (p.Val139Leu) c.314-42G>C (n.314-42G>C) c.112G>C (p.Val38Leu) | |
17 | g.47221690G= | CA2262577584 | MYL4 | c.322G= (p.Val108=) c.33G= c.*108G= (n.*108G=) c.415G= (p.Val139=) c.314-42G= (n.314-42G=) c.112G= (p.Val38=) | |
17 | g.47221690G>T | CA400022172 | MYL4 | c.322G>T (p.Val108Phe) c.33G>T c.*108G>T (n.*108G>T) c.415G>T (p.Val139Phe) c.314-42G>T (n.314-42G>T) c.112G>T (p.Val38Phe) | |
17 | g.47221691T>A | CA400022174 | MYL4 | c.323T>A (p.Val108Asp) c.34T>A c.*109T>A (n.*109T>A) c.416T>A (p.Val139Asp) c.314-41T>A (n.314-41T>A) c.113T>A (p.Val38Asp) | |
17 | g.47221691T>C | CA400022175 | MYL4 | c.323T>C (p.Val108Ala) c.34T>C c.*109T>C (n.*109T>C) c.416T>C (p.Val139Ala) c.314-41T>C (n.314-41T>C) c.113T>C (p.Val38Ala) | |
17 | g.47221691T>G | CA400022176 | MYL4 | c.323T>G (p.Val108Gly) c.34T>G c.*109T>G (n.*109T>G) c.416T>G (p.Val139Gly) c.314-41T>G (n.314-41T>G) c.113T>G (p.Val38Gly) | |
17 | g.47221692C>A | CA500433846 | MYL4 | c.324C>A (p.Val108=) c.35C>A c.*110C>A (n.*110C>A) c.417C>A (p.Val139=) c.314-40C>A (n.314-40C>A) c.114C>A (p.Val38=) | |
17 | g.47221692C= | CA2262577585 | MYL4 | c.324C= (p.Val108=) c.35C= c.*110C= (n.*110C=) c.417C= (p.Val139=) c.314-40C= (n.314-40C=) c.114C= (p.Val38=) | |
17 | g.47221692C>G | CA500433847 | MYL4 | c.324C>G (p.Val108=) c.35C>G c.*110C>G (n.*110C>G) c.417C>G (p.Val139=) c.314-40C>G (n.314-40C>G) c.114C>G (p.Val38=) | gnomAD v4 |
17 | g.47221692C>T | CA291225707 | MYL4 | c.324C>T (p.Val108=) c.35C>T c.*110C>T (n.*110C>T) c.417C>T (p.Val139=) c.314-40C>T (n.314-40C>T) c.114C>T (p.Val38=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47221693A>C | CA400022177 | MYL4 | c.325A>C (p.Lys109Gln) c.36A>C c.*111A>C (n.*111A>C) c.418A>C (p.Lys140Gln) c.314-39A>C (n.314-39A>C) c.115A>C (p.Lys39Gln) | |
17 | g.47221693A>G | CA400022179 | MYL4 | c.325A>G (p.Lys109Glu) c.36A>G c.*111A>G (n.*111A>G) c.418A>G (p.Lys140Glu) c.314-39A>G (n.314-39A>G) c.115A>G (p.Lys39Glu) | |
17 | g.47221693A>T | CA400022178 | MYL4 | c.325A>T (p.Lys109Ter) c.36A>T c.*111A>T (n.*111A>T) c.418A>T (p.Lys140Ter) c.314-39A>T (n.314-39A>T) c.115A>T (p.Lys39Ter) | |
17 | g.47221694A>C | CA400022180 | MYL4 | c.326A>C (p.Lys109Thr) c.37A>C c.*112A>C (n.*112A>C) c.419A>C (p.Lys140Thr) c.314-38A>C (n.314-38A>C) c.116A>C (p.Lys39Thr) | |
17 | g.47221694A>G | CA400022181 | MYL4 | c.326A>G (p.Lys109Arg) c.37A>G c.*112A>G (n.*112A>G) c.419A>G (p.Lys140Arg) c.314-38A>G (n.314-38A>G) c.116A>G (p.Lys39Arg) | |
17 | g.47221694A>T | CA400022182 | MYL4 | c.326A>T (p.Lys109Met) c.37A>T c.*112A>T (n.*112A>T) c.419A>T (p.Lys140Met) c.314-38A>T (n.314-38A>T) c.116A>T (p.Lys39Met) | |
17 | g.47221695G>A | CA500433850 | MYL4 | c.327G>A (p.Lys109=) c.38G>A c.*113G>A (n.*113G>A) c.420G>A (p.Lys140=) c.314-37G>A (n.314-37G>A) c.117G>A (p.Lys39=) | |
17 | g.47221695G>C | CA400022183 | MYL4 | c.327G>C (p.Lys109Asn) c.38G>C c.*113G>C (n.*113G>C) c.420G>C (p.Lys140Asn) c.314-37G>C (n.314-37G>C) c.117G>C (p.Lys39Asn) | |
17 | g.47221695G>T | CA400022184 | MYL4 | c.327G>T (p.Lys109Asn) c.38G>T c.*113G>T (n.*113G>T) c.420G>T (p.Lys140Asn) c.314-37G>T (n.314-37G>T) c.117G>T (p.Lys39Asn) | |
17 | g.47221696A>C | CA400022185 | MYL4 | c.328A>C (p.Met110Leu) c.39A>C c.*114A>C (n.*114A>C) c.421A>C (p.Met141Leu) c.314-36A>C (n.314-36A>C) c.118A>C (p.Met40Leu) | |
17 | g.47221696A>G | CA400022186 | MYL4 | c.328A>G (p.Met110Val) c.39A>G c.*114A>G (n.*114A>G) c.421A>G (p.Met141Val) c.314-36A>G (n.314-36A>G) c.118A>G (p.Met40Val) | |
17 | g.47221696A>T | CA400022187 | MYL4 | c.328A>T (p.Met110Leu) c.39A>T c.*114A>T (n.*114A>T) c.421A>T (p.Met141Leu) c.314-36A>T (n.314-36A>T) c.118A>T (p.Met40Leu) | |
17 | g.47221697T>A | CA400022188 | MYL4 | c.329T>A (p.Met110Lys) c.40T>A c.*115T>A (n.*115T>A) c.422T>A (p.Met141Lys) c.314-35T>A (n.314-35T>A) c.119T>A (p.Met40Lys) | gnomAD v4 |
17 | g.47221697T>C | CA400022189 | MYL4 | c.329T>C (p.Met110Thr) c.40T>C c.*115T>C (n.*115T>C) c.422T>C (p.Met141Thr) c.314-35T>C (n.314-35T>C) c.119T>C (p.Met40Thr) | gnomAD v4 |
17 | g.47221697T>G | CA400022190 | MYL4 | c.329T>G (p.Met110Arg) c.40T>G c.*115T>G (n.*115T>G) c.422T>G (p.Met141Arg) c.314-35T>G (n.314-35T>G) c.119T>G (p.Met40Arg) | |
17 | g.47221698G>A | CA400022191 | MYL4 | c.330G>A (p.Met110Ile) c.41G>A c.*116G>A (n.*116G>A) c.423G>A (p.Met141Ile) c.314-34G>A (n.314-34G>A) c.120G>A (p.Met40Ile) | |
17 | g.47221698G>C | CA400022193 | MYL4 | c.330G>C (p.Met110Ile) c.41G>C c.*116G>C (n.*116G>C) c.423G>C (p.Met141Ile) c.314-34G>C (n.314-34G>C) c.120G>C (p.Met40Ile) | |
17 | g.47221698G>T | CA400022192 | MYL4 | c.330G>T (p.Met110Ile) c.41G>T c.*116G>T (n.*116G>T) c.423G>T (p.Met141Ile) c.314-34G>T (n.314-34G>T) c.120G>T (p.Met40Ile) | |
17 | g.47221699C>A | CA400022194 | MYL4 | c.331C>A (p.Leu111Met) c.42C>A c.*117C>A (n.*117C>A) c.424C>A (p.Leu142Met) c.314-33C>A (n.314-33C>A) c.121C>A (p.Leu41Met) | |
17 | g.47221699C>G | CA400022195 | MYL4 | c.331C>G (p.Leu111Val) c.42C>G c.*117C>G (n.*117C>G) c.424C>G (p.Leu142Val) c.314-33C>G (n.314-33C>G) c.121C>G (p.Leu41Val) | |
17 | g.47221699C>T | CA500433851 | MYL4 | c.331C>T (p.Leu111=) c.42C>T c.*117C>T (n.*117C>T) c.424C>T (p.Leu142=) c.314-33C>T (n.314-33C>T) c.121C>T (p.Leu41=) | |
17 | g.47221700T>A | CA400022196 | MYL4 | c.332T>A (p.Leu111Gln) c.43T>A c.*118T>A (n.*118T>A) c.425T>A (p.Leu142Gln) c.314-32T>A (n.314-32T>A) c.122T>A (p.Leu41Gln) | |
17 | g.47221700T>C | CA400022197 | MYL4 | c.332T>C (p.Leu111Pro) c.43T>C c.*118T>C (n.*118T>C) c.425T>C (p.Leu142Pro) c.314-32T>C (n.314-32T>C) c.122T>C (p.Leu41Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.47221700T>G | CA400022198 | MYL4 | c.332T>G (p.Leu111Arg) c.43T>G c.*118T>G (n.*118T>G) c.425T>G (p.Leu142Arg) c.314-32T>G (n.314-32T>G) c.122T>G (p.Leu41Arg) | |
17 | g.47221700T= | CA2262577586 | MYL4 | c.332T= (p.Leu111=) c.43T= c.*118T= (n.*118T=) c.425T= (p.Leu142=) c.314-32T= (n.314-32T=) c.122T= (p.Leu41=) | |
17 | g.47221701G>A | CA500433853 | MYL4 | c.333G>A (p.Leu111=) c.44G>A c.*119G>A (n.*119G>A) c.426G>A (p.Leu142=) c.314-31G>A (n.314-31G>A) c.123G>A (p.Leu41=) | |
17 | g.47221701G>C | CA500433852 | MYL4 | c.333G>C (p.Leu111=) c.44G>C c.*119G>C (n.*119G>C) c.426G>C (p.Leu142=) c.314-31G>C (n.314-31G>C) c.123G>C (p.Leu41=) | |
17 | g.47221701G>T | CA500433854 | MYL4 | c.333G>T (p.Leu111=) c.44G>T c.*119G>T (n.*119G>T) c.426G>T (p.Leu142=) c.314-31G>T (n.314-31G>T) c.123G>T (p.Leu41=) | |
17 | g.47221702G>A | CA400022199 | MYL4 | c.334G>A (p.Asp112Asn) c.45G>A c.*120G>A (n.*120G>A) c.427G>A (p.Asp143Asn) c.314-30G>A (n.314-30G>A) c.124G>A (p.Asp42Asn) | |
17 | g.47221702G>C | CA400022200 | MYL4 | c.334G>C (p.Asp112His) c.45G>C c.*120G>C (n.*120G>C) c.427G>C (p.Asp143His) c.314-30G>C (n.314-30G>C) c.124G>C (p.Asp42His) | dbSNP gnomAD v4 |
17 | g.47221702G= | CA2262577587 | MYL4 | c.334G= (p.Asp112=) c.45G= c.*120G= (n.*120G=) c.427G= (p.Asp143=) c.314-30G= (n.314-30G=) c.124G= (p.Asp42=) | |
17 | g.47221702G>T | CA400022201 | MYL4 | c.334G>T (p.Asp112Tyr) c.45G>T c.*120G>T (n.*120G>T) c.427G>T (p.Asp143Tyr) c.314-30G>T (n.314-30G>T) c.124G>T (p.Asp42Tyr) | COSMIC |