| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.47221773C>A | CA291225741 | MYL4 | c.405C>A (p.Phe135Leu) c.116C>A c.*191C>A (n.*191C>A) c.498C>A (p.Phe166Leu) c.*7C>A (n.*7C>A) c.195C>A (p.Phe65Leu) | dbSNP |
| 17 | g.47221773C= | CA2262577617 | MYL4 | c.405C= (p.Phe135=) c.116C= c.*191C= (n.*191C=) c.498C= (p.Phe166=) c.*7C= (n.*7C=) c.195C= (p.Phe65=) | |
| 17 | g.47221773C>G | CA400022394 | MYL4 | c.405C>G (p.Phe135Leu) c.116C>G c.*191C>G (n.*191C>G) c.498C>G (p.Phe166Leu) c.*7C>G (n.*7C>G) c.195C>G (p.Phe65Leu) | |
| 17 | g.47221773C>T | CA8622736 | MYL4 | c.405C>T (p.Phe135=) c.116C>T c.*191C>T (n.*191C>T) c.498C>T (p.Phe166=) c.*7C>T (n.*7C>T) c.195C>T (p.Phe65=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47221774G>A | CA8622737 | MYL4 | c.406G>A (p.Val136Met) c.117G>A c.*192G>A (n.*192G>A) c.499G>A (p.Val167Met) c.*8G>A (n.*8G>A) c.196G>A (p.Val66Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.47221774G>C | CA400022398 | MYL4 | c.406G>C (p.Val136Leu) c.117G>C c.*192G>C (n.*192G>C) c.499G>C (p.Val167Leu) c.*8G>C (n.*8G>C) c.196G>C (p.Val66Leu) | dbSNP |
| 17 | g.47221774G= | CA2262577618 | MYL4 | c.406G= (p.Val136=) c.117G= c.*192G= (n.*192G=) c.499G= (p.Val167=) c.*8G= (n.*8G=) c.196G= (p.Val66=) | |
| 17 | g.47221774G>T | CA400022400 | MYL4 | c.406G>T (p.Val136Leu) c.117G>T c.*192G>T (n.*192G>T) c.499G>T (p.Val167Leu) c.*8G>T (n.*8G>T) c.196G>T (p.Val66Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47221775T>A | CA400022403 | MYL4 | c.407T>A (p.Val136Glu) c.118T>A c.*193T>A (n.*193T>A) c.500T>A (p.Val167Glu) c.*9T>A (n.*9T>A) c.197T>A (p.Val66Glu) | |
| 17 | g.47221775T>C | CA400022406 | MYL4 | c.407T>C (p.Val136Ala) c.118T>C c.*193T>C (n.*193T>C) c.500T>C (p.Val167Ala) c.*9T>C (n.*9T>C) c.197T>C (p.Val66Ala) | gnomAD v4 |
| 17 | g.47221775T>G | CA400022405 | MYL4 | c.407T>G (p.Val136Gly) c.118T>G c.*193T>G (n.*193T>G) c.500T>G (p.Val167Gly) c.*9T>G (n.*9T>G) c.197T>G (p.Val66Gly) | |
| 17 | g.47221776G>A | CA500433922 | MYL4 | c.408G>A (p.Val136=) c.119G>A c.*194G>A (n.*194G>A) c.501G>A (p.Val167=) c.*10G>A (n.*10G>A) c.198G>A (p.Val66=) | |
| 17 | g.47221776G>C | CA500433923 | MYL4 | c.408G>C (p.Val136=) c.119G>C c.*194G>C (n.*194G>C) c.501G>C (p.Val167=) c.*10G>C (n.*10G>C) c.198G>C (p.Val66=) | |
| 17 | g.47221776G>T | CA500433924 | MYL4 | c.408G>T (p.Val136=) c.119G>T c.*194G>T (n.*194G>T) c.501G>T (p.Val167=) c.*10G>T (n.*10G>T) c.198G>T (p.Val66=) | |
| 17 | g.47221777G>A | CA400022409 | MYL4 | c.409G>A (p.Glu137Lys) c.120G>A c.*195G>A (n.*195G>A) c.502G>A (p.Glu168Lys) c.*11G>A (n.*11G>A) c.199G>A (p.Glu67Lys) | |
| 17 | g.47221777G>C | CA400022411 | MYL4 | c.409G>C (p.Glu137Gln) c.120G>C c.*195G>C (n.*195G>C) c.502G>C (p.Glu168Gln) c.*11G>C (n.*11G>C) c.199G>C (p.Glu67Gln) | |
| 17 | g.47221777G>T | CA400022413 | MYL4 | c.409G>T (p.Glu137Ter) c.120G>T c.*195G>T (n.*195G>T) c.502G>T (p.Glu168Ter) c.*11G>T (n.*11G>T) c.199G>T (p.Glu67Ter) | |
| 17 | g.47221778A>C | CA400022415 | MYL4 | c.410A>C (p.Glu137Ala) c.121A>C c.*196A>C (n.*196A>C) c.503A>C (p.Glu168Ala) c.*12A>C (n.*12A>C) c.200A>C (p.Glu67Ala) | |
| 17 | g.47221778A>G | CA400022418 | MYL4 | c.410A>G (p.Glu137Gly) c.121A>G c.*196A>G (n.*196A>G) c.503A>G (p.Glu168Gly) c.*12A>G (n.*12A>G) c.200A>G (p.Glu67Gly) | |
| 17 | g.47221778A>T | CA400022420 | MYL4 | c.410A>T (p.Glu137Val) c.121A>T c.*196A>T (n.*196A>T) c.503A>T (p.Glu168Val) c.*12A>T (n.*12A>T) c.200A>T (p.Glu67Val) | |
| 17 | g.47221779G>A | CA500433930 | MYL4 | c.411G>A (p.Glu137=) c.122G>A c.*197G>A (n.*197G>A) c.504G>A (p.Glu168=) c.*13G>A (n.*13G>A) c.201G>A (p.Glu67=) | |
| 17 | g.47221779G>C | CA400022422 | MYL4 | c.411G>C (p.Glu137Asp) c.122G>C c.*197G>C (n.*197G>C) c.504G>C (p.Glu168Asp) c.*13G>C (n.*13G>C) c.201G>C (p.Glu67Asp) | |
| 17 | g.47221779G>T | CA400022424 | MYL4 | c.411G>T (p.Glu137Asp) c.122G>T c.*197G>T (n.*197G>T) c.504G>T (p.Glu168Asp) c.*13G>T (n.*13G>T) c.201G>T (p.Glu67Asp) | |
| 17 | g.47221780G>A | CA400022426 | MYL4 | c.412G>A (p.Gly138Ser) c.123G>A c.*198G>A (n.*198G>A) c.505G>A (p.Gly169Ser) c.*14G>A (n.*14G>A) c.202G>A (p.Gly68Ser) | |
| 17 | g.47221780G>C | CA400022428 | MYL4 | c.412G>C (p.Gly138Arg) c.123G>C c.*198G>C (n.*198G>C) c.505G>C (p.Gly169Arg) c.*14G>C (n.*14G>C) c.202G>C (p.Gly68Arg) | |
| 17 | g.47221780G>T | CA400022430 | MYL4 | c.412G>T (p.Gly138Cys) c.123G>T c.*198G>T (n.*198G>T) c.505G>T (p.Gly169Cys) c.*14G>T (n.*14G>T) c.202G>T (p.Gly68Cys) | |
| 17 | g.47221781G>A | CA400022436 | MYL4 | c.413G>A (p.Gly138Asp) c.124G>A c.*199G>A (n.*199G>A) c.506G>A (p.Gly169Asp) c.*15G>A (n.*15G>A) c.203G>A (p.Gly68Asp) | gnomAD v4 |
| 17 | g.47221781G>C | CA400022435 | MYL4 | c.413G>C (p.Gly138Ala) c.124G>C c.*199G>C (n.*199G>C) c.506G>C (p.Gly169Ala) c.*15G>C (n.*15G>C) c.203G>C (p.Gly68Ala) | |
| 17 | g.47221781G>T | CA400022433 | MYL4 | c.413G>T (p.Gly138Val) c.124G>T c.*199G>T (n.*199G>T) c.506G>T (p.Gly169Val) c.*15G>T (n.*15G>T) c.203G>T (p.Gly68Val) | |
| 17 | g.47221782C>A | CA500433943 | MYL4 | c.414C>A (p.Gly138=) c.125C>A c.*200C>A (n.*200C>A) c.507C>A (p.Gly169=) c.*16C>A (n.*16C>A) c.204C>A (p.Gly68=) | |
| 17 | g.47221782C= | CA2262577619 | MYL4 | c.414C= (p.Gly138=) c.125C= c.*200C= (n.*200C=) c.507C= (p.Gly169=) c.*16C= (n.*16C=) c.204C= (p.Gly68=) | |
| 17 | g.47221782C>G | CA500433941 | MYL4 | c.414C>G (p.Gly138=) c.125C>G c.*200C>G (n.*200C>G) c.507C>G (p.Gly169=) c.*16C>G (n.*16C>G) c.204C>G (p.Gly68=) | |
| 17 | g.47221782C>T | CA291225744 | MYL4 | c.414C>T (p.Gly138=) c.125C>T c.*200C>T (n.*200C>T) c.507C>T (p.Gly169=) c.*16C>T (n.*16C>T) c.204C>T (p.Gly68=) | dbSNP gnomAD v4 COSMIC |
| 17 | g.47221783C>A | CA400022438 | MYL4 | c.415C>A (p.Leu139Met) c.126C>A c.*201C>A (n.*201C>A) c.508C>A (p.Leu170Met) c.*17C>A (n.*17C>A) c.205C>A (p.Leu69Met) | |
| 17 | g.47221783C= | CA2262577620 | MYL4 | c.415C= (p.Leu139=) c.126C= c.*201C= (n.*201C=) c.508C= (p.Leu170=) c.*17C= (n.*17C=) c.205C= (p.Leu69=) | |
| 17 | g.47221783C>G | CA400022440 | MYL4 | c.415C>G (p.Leu139Val) c.126C>G c.*201C>G (n.*201C>G) c.508C>G (p.Leu170Val) c.*17C>G (n.*17C>G) c.205C>G (p.Leu69Val) | |
| 17 | g.47221783C>T | CA500433944 | MYL4 | c.415C>T (p.Leu139=) c.126C>T c.*201C>T (n.*201C>T) c.508C>T (p.Leu170=) c.*17C>T (n.*17C>T) c.205C>T (p.Leu69=) | dbSNP |
| 17 | g.47221784T>A | CA400022442 | MYL4 | c.416T>A (p.Leu139Gln) c.127T>A c.*202T>A (n.*202T>A) c.509T>A (p.Leu170Gln) c.*18T>A (n.*18T>A) c.206T>A (p.Leu69Gln) | |
| 17 | g.47221784T>C | CA400022444 | MYL4 | c.416T>C (p.Leu139Pro) c.127T>C c.*202T>C (n.*202T>C) c.509T>C (p.Leu170Pro) c.*18T>C (n.*18T>C) c.206T>C (p.Leu69Pro) | dbSNP |
| 17 | g.47221784T>G | CA400022446 | MYL4 | c.416T>G (p.Leu139Arg) c.127T>G c.*202T>G (n.*202T>G) c.509T>G (p.Leu170Arg) c.*18T>G (n.*18T>G) c.206T>G (p.Leu69Arg) | |
| 17 | g.47221784T= | CA2262577621 | MYL4 | c.416T= (p.Leu139=) c.127T= c.*202T= (n.*202T=) c.509T= (p.Leu170=) c.*18T= (n.*18T=) c.206T= (p.Leu69=) | |
| 17 | g.47221785G>A | CA500433952 | MYL4 | c.417G>A (p.Leu139=) c.128G>A c.*203G>A (n.*203G>A) c.510G>A (p.Leu170=) c.*19G>A (n.*19G>A) c.207G>A (p.Leu69=) | |
| 17 | g.47221785G>C | CA500433951 | MYL4 | c.417G>C (p.Leu139=) c.128G>C c.*203G>C (n.*203G>C) c.510G>C (p.Leu170=) c.*19G>C (n.*19G>C) c.207G>C (p.Leu69=) | |
| 17 | g.47221785G>T | CA500433953 | MYL4 | c.417G>T (p.Leu139=) c.128G>T c.*203G>T (n.*203G>T) c.510G>T (p.Leu170=) c.*19G>T (n.*19G>T) c.207G>T (p.Leu69=) | |
| 17 | g.47221785_47221787dup | CA2638433047 | MYL4 | c.417_419dup (p.Arg140_Val141insArg) c.128_130dup c.*203_*205dup (n.*203_*205dup) c.510_512dup (p.Arg171_Val172insArg) c.*19_*21dup (n.*19_*21dup) c.207_209dup (p.Arg70_Val71insArg) | gnomAD v4 |
| 17 | g.47221786C>A | CA400022449 | MYL4 | c.418C>A (p.Arg140Ser) c.129C>A c.*204C>A (n.*204C>A) c.511C>A (p.Arg171Ser) c.*20C>A (n.*20C>A) c.208C>A (p.Arg70Ser) | |
| 17 | g.47221786C= | CA2262577622 | MYL4 | c.418C= (p.Arg140=) c.129C= c.*204C= (n.*204C=) c.511C= (p.Arg171=) c.*20C= (n.*20C=) c.208C= (p.Arg70=) | |
| 17 | g.47221786C>G | CA400022451 | MYL4 | c.418C>G (p.Arg140Gly) c.129C>G c.*204C>G (n.*204C>G) c.511C>G (p.Arg171Gly) c.*20C>G (n.*20C>G) c.208C>G (p.Arg70Gly) | dbSNP |
| 17 | g.47221786C>T | CA8622738 | MYL4 | c.418C>T (p.Arg140Cys) c.129C>T c.*204C>T (n.*204C>T) c.511C>T (p.Arg171Cys) c.*20C>T (n.*20C>T) c.208C>T (p.Arg70Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47221787G>A | CA8622739 | MYL4 | c.419G>A (p.Arg140His) c.130G>A c.*205G>A (n.*205G>A) c.512G>A (p.Arg171His) c.*21G>A (n.*21G>A) c.209G>A (p.Arg70His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |