UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.47221675_47221678del | CA2262577572 | MYL4 | c.314-7_314-4del (n.314-7_314-4del) c.25-7_25-4del c.*100-7_*100-4del (n.*100-7_*100-4del) c.407-7_407-4del (n.407-7_407-4del) c.314-57_314-54del (n.314-57_314-54del) c.104-7_104-4del (n.104-7_104-4del) | dbSNP |
| 17 | g.47221675C>T | CA2638433046 | MYL4 | c.314-7C>T (n.314-7C>T) c.25-7C>T c.*100-7C>T (n.*100-7C>T) c.407-7C>T (n.407-7C>T) c.314-57C>T (n.314-57C>T) c.104-7C>T (n.104-7C>T) | gnomAD v4 |
| 17 | g.47221676C>T | CA2573154264 | MYL4 | c.314-6C>T (n.314-6C>T) c.25-6C>T c.*100-6C>T (n.*100-6C>T) c.407-6C>T (n.407-6C>T) c.314-56C>T (n.314-56C>T) c.104-6C>T (n.104-6C>T) | ClinVar dbSNP |
| 17 | g.47221678G>A | CA8622715 | MYL4 | c.314-4G>A (n.314-4G>A) c.25-4G>A c.*100-4G>A (n.*100-4G>A) c.407-4G>A (n.407-4G>A) c.314-54G>A (n.314-54G>A) c.104-4G>A (n.104-4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47221678G>C | CA2581311713 | MYL4 | c.314-4G>C (n.314-4G>C) c.25-4G>C c.*100-4G>C (n.*100-4G>C) c.407-4G>C (n.407-4G>C) c.314-54G>C (n.314-54G>C) c.104-4G>C (n.104-4G>C) | |
| 17 | g.47221678G= | CA2262577577 | MYL4 | c.314-4G= (n.314-4G=) c.25-4G= c.*100-4G= (n.*100-4G=) c.407-4G= (n.407-4G=) c.314-54G= (n.314-54G=) c.104-4G= (n.104-4G=) | |
| 17 | g.47221678G>T | CA2581311714 | MYL4 | c.314-4G>T (n.314-4G>T) c.25-4G>T c.*100-4G>T (n.*100-4G>T) c.407-4G>T (n.407-4G>T) c.314-54G>T (n.314-54G>T) c.104-4G>T (n.104-4G>T) | |
| 17 | g.47221680A>C | CA400022147 | MYL4 | c.314-2A>C (n.314-2A>C) c.25-2A>C c.*100-2A>C (n.*100-2A>C) c.407-2A>C (n.407-2A>C) c.314-52A>C (n.314-52A>C) c.104-2A>C (n.104-2A>C) | gnomAD v4 |
| 17 | g.47221680A>G | CA400022148 | MYL4 | c.314-2A>G (n.314-2A>G) c.25-2A>G c.*100-2A>G (n.*100-2A>G) c.407-2A>G (n.407-2A>G) c.314-52A>G (n.314-52A>G) c.104-2A>G (n.104-2A>G) | |
| 17 | g.47221680A>T | CA400022149 | MYL4 | c.314-2A>T (n.314-2A>T) c.25-2A>T c.*100-2A>T (n.*100-2A>T) c.407-2A>T (n.407-2A>T) c.314-52A>T (n.314-52A>T) c.104-2A>T (n.104-2A>T) | |
| 17 | g.47221681G>A | CA400022151 | MYL4 | c.314-1G>A (n.314-1G>A) c.25-1G>A c.*100-1G>A (n.*100-1G>A) c.407-1G>A (n.407-1G>A) c.314-51G>A (n.314-51G>A) c.104-1G>A (n.104-1G>A) | dbSNP gnomAD v4 |
| 17 | g.47221681G>C | CA8622716 | MYL4 | c.314-1G>C (n.314-1G>C) c.25-1G>C c.*100-1G>C (n.*100-1G>C) c.407-1G>C (n.407-1G>C) c.314-51G>C (n.314-51G>C) c.104-1G>C (n.104-1G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47221681G= | CA2262577578 | MYL4 | c.314-1G= (n.314-1G=) c.25-1G= c.*100-1G= (n.*100-1G=) c.407-1G= (n.407-1G=) c.314-51G= (n.314-51G=) c.104-1G= (n.104-1G=) | |
| 17 | g.47221681G>T | CA400022150 | MYL4 | c.314-1G>T (n.314-1G>T) c.25-1G>T c.*100-1G>T (n.*100-1G>T) c.407-1G>T (n.407-1G>T) c.314-51G>T (n.314-51G>T) c.104-1G>T (n.104-1G>T) | |
| 17 | g.47221682A>C | CA400022152 | MYL4 | c.314A>C (p.Glu105Ala) c.25A>C c.*100A>C (n.*100A>C) c.407A>C (p.Glu136Ala) c.314-50A>C (n.314-50A>C) c.104A>C (p.Glu35Ala) | |
| 17 | g.47221682A>G | CA400022153 | MYL4 | c.314A>G (p.Glu105Gly) c.25A>G c.*100A>G (n.*100A>G) c.407A>G (p.Glu136Gly) c.314-50A>G (n.314-50A>G) c.104A>G (p.Glu35Gly) | |
| 17 | g.47221682A>T | CA400022154 | MYL4 | c.314A>T (p.Glu105Val) c.25A>T c.*100A>T (n.*100A>T) c.407A>T (p.Glu136Val) c.314-50A>T (n.314-50A>T) c.104A>T (p.Glu35Val) | |
| 17 | g.47221683G>A | CA8622717 | MYL4 | c.315G>A (p.Glu105=) c.26G>A c.*101G>A (n.*101G>A) c.408G>A (p.Glu136=) c.314-49G>A (n.314-49G>A) c.105G>A (p.Glu35=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.47221683G>C | CA400022155 | MYL4 | c.315G>C (p.Glu105Asp) c.26G>C c.*101G>C (n.*101G>C) c.408G>C (p.Glu136Asp) c.314-49G>C (n.314-49G>C) c.105G>C (p.Glu35Asp) | dbSNP |
| 17 | g.47221683G= | CA2262577579 | MYL4 | c.315G= (p.Glu105=) c.26G= c.*101G= (n.*101G=) c.408G= (p.Glu136=) c.314-49G= (n.314-49G=) c.105G= (p.Glu35=) | |
| 17 | g.47221683G>T | CA400022156 | MYL4 | c.315G>T (p.Glu105Asp) c.26G>T c.*101G>T (n.*101G>T) c.408G>T (p.Glu136Asp) c.314-49G>T (n.314-49G>T) c.105G>T (p.Glu35Asp) | |
| 17 | g.47221684A= | CA2262577580 | MYL4 | c.316A= (p.Met106=) c.27A= c.*102A= (n.*102A=) c.409A= (p.Met137=) c.314-48A= (n.314-48A=) c.106A= (p.Met36=) | |
| 17 | g.47221684A>C | CA400022157 | MYL4 | c.316A>C (p.Met106Leu) c.27A>C c.*102A>C (n.*102A>C) c.409A>C (p.Met137Leu) c.314-48A>C (n.314-48A>C) c.106A>C (p.Met36Leu) | |
| 17 | g.47221684A>G | CA8622718 | MYL4 | c.316A>G (p.Met106Val) c.27A>G c.*102A>G (n.*102A>G) c.409A>G (p.Met137Val) c.314-48A>G (n.314-48A>G) c.106A>G (p.Met36Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.47221684A>T | CA400022158 | MYL4 | c.316A>T (p.Met106Leu) c.27A>T c.*102A>T (n.*102A>T) c.409A>T (p.Met137Leu) c.314-48A>T (n.314-48A>T) c.106A>T (p.Met36Leu) | |
| 17 | g.47221685T>A | CA400022159 | MYL4 | c.317T>A (p.Met106Lys) c.28T>A c.*103T>A (n.*103T>A) c.410T>A (p.Met137Lys) c.314-47T>A (n.314-47T>A) c.107T>A (p.Met36Lys) | |
| 17 | g.47221685T>C | CA8622719 | MYL4 | c.317T>C (p.Met106Thr) c.28T>C c.*103T>C (n.*103T>C) c.410T>C (p.Met137Thr) c.314-47T>C (n.314-47T>C) c.107T>C (p.Met36Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.47221685T>G | CA400022160 | MYL4 | c.317T>G (p.Met106Arg) c.28T>G c.*103T>G (n.*103T>G) c.410T>G (p.Met137Arg) c.314-47T>G (n.314-47T>G) c.107T>G (p.Met36Arg) | |
| 17 | g.47221685T= | CA2262577581 | MYL4 | c.317T= (p.Met106=) c.28T= c.*103T= (n.*103T=) c.410T= (p.Met137=) c.314-47T= (n.314-47T=) c.107T= (p.Met36=) | |
| 17 | g.47221686G>A | CA8622720 | MYL4 | c.318G>A (p.Met106Ile) c.29G>A c.*104G>A (n.*104G>A) c.411G>A (p.Met137Ile) c.314-46G>A (n.314-46G>A) c.108G>A (p.Met36Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.47221686G>C | CA400022162 | MYL4 | c.318G>C (p.Met106Ile) c.29G>C c.*104G>C (n.*104G>C) c.411G>C (p.Met137Ile) c.314-46G>C (n.314-46G>C) c.108G>C (p.Met36Ile) | gnomAD v4 |
| 17 | g.47221686G= | CA2262577582 | MYL4 | c.318G= (p.Met106=) c.29G= c.*104G= (n.*104G=) c.411G= (p.Met137=) c.314-46G= (n.314-46G=) c.108G= (p.Met36=) | |
| 17 | g.47221686G>T | CA400022161 | MYL4 | c.318G>T (p.Met106Ile) c.29G>T c.*104G>T (n.*104G>T) c.411G>T (p.Met137Ile) c.314-46G>T (n.314-46G>T) c.108G>T (p.Met36Ile) | |
| 17 | g.47221687A>C | CA400022163 | MYL4 | c.319A>C (p.Asn107His) c.30A>C c.*105A>C (n.*105A>C) c.412A>C (p.Asn138His) c.314-45A>C (n.314-45A>C) c.109A>C (p.Asn37His) | |
| 17 | g.47221687A>G | CA400022164 | MYL4 | c.319A>G (p.Asn107Asp) c.30A>G c.*105A>G (n.*105A>G) c.412A>G (p.Asn138Asp) c.314-45A>G (n.314-45A>G) c.109A>G (p.Asn37Asp) | |
| 17 | g.47221687A>T | CA400022165 | MYL4 | c.319A>T (p.Asn107Tyr) c.30A>T c.*105A>T (n.*105A>T) c.412A>T (p.Asn138Tyr) c.314-45A>T (n.314-45A>T) c.109A>T (p.Asn37Tyr) | |
| 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 |
| 17 | g.47221703A>C | CA400022202 | MYL4 | c.335A>C (p.Asp112Ala) c.46A>C c.*121A>C (n.*121A>C) c.428A>C (p.Asp143Ala) c.314-29A>C (n.314-29A>C) c.125A>C (p.Asp42Ala) | |
| 17 | g.47221703A>G | CA400022203 | MYL4 | c.335A>G (p.Asp112Gly) c.46A>G c.*121A>G (n.*121A>G) c.428A>G (p.Asp143Gly) c.314-29A>G (n.314-29A>G) c.125A>G (p.Asp42Gly) | |
| 17 | g.47221703A>T | CA400022204 | MYL4 | c.335A>T (p.Asp112Val) c.46A>T c.*121A>T (n.*121A>T) c.428A>T (p.Asp143Val) c.314-29A>T (n.314-29A>T) c.125A>T (p.Asp42Val) | |
| 17 | g.47221704C>A | CA400022205 | MYL4 | c.336C>A (p.Asp112Glu) c.47C>A c.*122C>A (n.*122C>A) c.429C>A (p.Asp143Glu) c.314-28C>A (n.314-28C>A) c.126C>A (p.Asp42Glu) | gnomAD v4 |
| 17 | g.47221704C= | CA2262577588 | MYL4 | c.336C= (p.Asp112=) c.47C= c.*122C= (n.*122C=) c.429C= (p.Asp143=) c.314-28C= (n.314-28C=) c.126C= (p.Asp42=) | |
| 17 | g.47221704C>G | CA400022206 | MYL4 | c.336C>G (p.Asp112Glu) c.47C>G c.*122C>G (n.*122C>G) c.429C>G (p.Asp143Glu) c.314-28C>G (n.314-28C>G) c.126C>G (p.Asp42Glu) | |
| 17 | g.47221704C>T | CA500433855 | MYL4 | c.336C>T (p.Asp112=) c.47C>T c.*122C>T (n.*122C>T) c.429C>T (p.Asp143=) c.314-28C>T (n.314-28C>T) c.126C>T (p.Asp42=) | dbSNP |
| 17 | g.47221705T>A | CA400022207 | MYL4 | c.337T>A (p.Phe113Ile) c.48T>A c.*123T>A (n.*123T>A) c.430T>A (p.Phe144Ile) c.314-27T>A (n.314-27T>A) c.127T>A (p.Phe43Ile) | |
| 17 | g.47221705T>C | CA400022209 | MYL4 | c.337T>C (p.Phe113Leu) c.48T>C c.*123T>C (n.*123T>C) c.430T>C (p.Phe144Leu) c.314-27T>C (n.314-27T>C) c.127T>C (p.Phe43Leu) | |
| 17 | g.47221705T>G | CA400022208 | MYL4 | c.337T>G (p.Phe113Val) c.48T>G c.*123T>G (n.*123T>G) c.430T>G (p.Phe144Val) c.314-27T>G (n.314-27T>G) c.127T>G (p.Phe43Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47221705T= | CA2262577589 | MYL4 | c.337T= (p.Phe113=) c.48T= c.*123T= (n.*123T=) c.430T= (p.Phe144=) c.314-27T= (n.314-27T=) c.127T= (p.Phe43=) | |
| 17 | g.47221706T>A | CA400022210 | MYL4 | c.338T>A (p.Phe113Tyr) c.49T>A c.*124T>A (n.*124T>A) c.431T>A (p.Phe144Tyr) c.314-26T>A (n.314-26T>A) c.128T>A (p.Phe43Tyr) | |
| 17 | g.47221706T>C | CA400022211 | MYL4 | c.338T>C (p.Phe113Ser) c.49T>C c.*124T>C (n.*124T>C) c.431T>C (p.Phe144Ser) c.314-26T>C (n.314-26T>C) c.128T>C (p.Phe43Ser) | |
| 17 | g.47221706T>G | CA400022212 | MYL4 | c.338T>G (p.Phe113Cys) c.49T>G c.*124T>G (n.*124T>G) c.431T>G (p.Phe144Cys) c.314-26T>G (n.314-26T>G) c.128T>G (p.Phe43Cys) | |
| 17 | g.47221707T>A | CA400022213 | MYL4 | c.339T>A (p.Phe113Leu) c.50T>A c.*125T>A (n.*125T>A) c.432T>A (p.Phe144Leu) c.314-25T>A (n.314-25T>A) c.129T>A (p.Phe43Leu) | |
| 17 | g.47221707T>C | CA500433856 | MYL4 | c.339T>C (p.Phe113=) c.50T>C c.*125T>C (n.*125T>C) c.432T>C (p.Phe144=) c.314-25T>C (n.314-25T>C) c.129T>C (p.Phe43=) | |
| 17 | g.47221707T>G | CA8622721 | MYL4 | c.339T>G (p.Phe113Leu) c.50T>G c.*125T>G (n.*125T>G) c.432T>G (p.Phe144Leu) c.314-25T>G (n.314-25T>G) c.129T>G (p.Phe43Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47221707T= | CA2262577590 | MYL4 | c.339T= (p.Phe113=) c.50T= c.*125T= (n.*125T=) c.432T= (p.Phe144=) c.314-25T= (n.314-25T=) c.129T= (p.Phe43=) | |
| 17 | g.47221708G>A | CA400022214 | MYL4 | c.340G>A (p.Glu114Lys) c.51G>A c.*126G>A (n.*126G>A) c.433G>A (p.Glu145Lys) c.314-24G>A (n.314-24G>A) c.130G>A (p.Glu44Lys) | |
| 17 | g.47221708G>C | CA400022215 | MYL4 | c.340G>C (p.Glu114Gln) c.51G>C c.*126G>C (n.*126G>C) c.433G>C (p.Glu145Gln) c.314-24G>C (n.314-24G>C) c.130G>C (p.Glu44Gln) | |
| 17 | g.47221708G>T | CA400022216 | MYL4 | c.340G>T (p.Glu114Ter) c.51G>T c.*126G>T (n.*126G>T) c.433G>T (p.Glu145Ter) c.314-24G>T (n.314-24G>T) c.130G>T (p.Glu44Ter) | |
| 17 | g.47221709A>C | CA400022217 | MYL4 | c.341A>C (p.Glu114Ala) c.52A>C c.*127A>C (n.*127A>C) c.434A>C (p.Glu145Ala) c.314-23A>C (n.314-23A>C) c.131A>C (p.Glu44Ala) | |
| 17 | g.47221709A>G | CA400022218 | MYL4 | c.341A>G (p.Glu114Gly) c.52A>G c.*127A>G (n.*127A>G) c.434A>G (p.Glu145Gly) c.314-23A>G (n.314-23A>G) c.131A>G (p.Glu44Gly) | |
| 17 | g.47221709A>T | CA400022219 | MYL4 | c.341A>T (p.Glu114Val) c.52A>T c.*127A>T (n.*127A>T) c.434A>T (p.Glu145Val) c.314-23A>T (n.314-23A>T) c.131A>T (p.Glu44Val) | |
| 17 | g.47221710G>A | CA500433857 | MYL4 | c.342G>A (p.Glu114=) c.53G>A c.*128G>A (n.*128G>A) c.435G>A (p.Glu145=) c.314-22G>A (n.314-22G>A) c.132G>A (p.Glu44=) | |
| 17 | g.47221710G>C | CA400022221 | MYL4 | c.342G>C (p.Glu114Asp) c.53G>C c.*128G>C (n.*128G>C) c.435G>C (p.Glu145Asp) c.314-22G>C (n.314-22G>C) c.132G>C (p.Glu44Asp) | |
| 17 | g.47221710G>T | CA400022220 | MYL4 | c.342G>T (p.Glu114Asp) c.53G>T c.*128G>T (n.*128G>T) c.435G>T (p.Glu145Asp) c.314-22G>T (n.314-22G>T) c.132G>T (p.Glu44Asp) | |
| 17 | g.47221711A>C | CA400022222 | MYL4 | c.343A>C (p.Thr115Pro) c.54A>C c.*129A>C (n.*129A>C) c.436A>C (p.Thr146Pro) c.314-21A>C (n.314-21A>C) c.133A>C (p.Thr45Pro) | |
| 17 | g.47221711A>G | CA400022224 | MYL4 | c.343A>G (p.Thr115Ala) c.54A>G c.*129A>G (n.*129A>G) c.436A>G (p.Thr146Ala) c.314-21A>G (n.314-21A>G) c.133A>G (p.Thr45Ala) | |
| 17 | g.47221711A>T | CA400022223 | MYL4 | c.343A>T (p.Thr115Ser) c.54A>T c.*129A>T (n.*129A>T) c.436A>T (p.Thr146Ser) c.314-21A>T (n.314-21A>T) c.133A>T (p.Thr45Ser) | |
| 17 | g.47221712C>A | CA400022225 | MYL4 | c.344C>A (p.Thr115Lys) c.55C>A c.*130C>A (n.*130C>A) c.437C>A (p.Thr146Lys) c.314-20C>A (n.314-20C>A) c.134C>A (p.Thr45Lys) | |
| 17 | g.47221712C= | CA2262577591 | MYL4 | c.344C= (p.Thr115=) c.55C= c.*130C= (n.*130C=) c.437C= (p.Thr146=) c.314-20C= (n.314-20C=) c.134C= (p.Thr45=) | |
| 17 | g.47221712C>G | CA400022226 | MYL4 | c.344C>G (p.Thr115Arg) c.55C>G c.*130C>G (n.*130C>G) c.437C>G (p.Thr146Arg) c.314-20C>G (n.314-20C>G) c.134C>G (p.Thr45Arg) | |
| 17 | g.47221712C>T | CA8622722 | MYL4 | c.344C>T (p.Thr115Met) c.55C>T c.*130C>T (n.*130C>T) c.437C>T (p.Thr146Met) c.314-20C>T (n.314-20C>T) c.134C>T (p.Thr45Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47221712_47221713insCAG | CA2576301889 | MYL4 | c.344_345insCAG (p.Thr115_Phe116insArg) c.55_56insCAG c.*130_*131insCAG (n.*130_*131insCAG) c.437_438insCAG (p.Thr146_Phe147insArg) c.314-20_314-19insCAG (n.314-20_314-19insCAG) c.134_135insCAG (p.Thr45_Phe46insArg) | |
| 17 | g.47221713G>A | CA8622723 | MYL4 | c.345G>A (p.Thr115=) c.56G>A c.*131G>A (n.*131G>A) c.438G>A (p.Thr146=) c.314-19G>A (n.314-19G>A) c.135G>A (p.Thr45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47221713G>C | CA500433858 | MYL4 | c.345G>C (p.Thr115=) c.56G>C c.*131G>C (n.*131G>C) c.438G>C (p.Thr146=) c.314-19G>C (n.314-19G>C) c.135G>C (p.Thr45=) | |
| 17 | g.47221713G= | CA2262577592 | MYL4 | c.345G= (p.Thr115=) c.56G= c.*131G= (n.*131G=) c.438G= (p.Thr146=) c.314-19G= (n.314-19G=) c.135G= (p.Thr45=) | |
| 17 | g.47221713G>T | CA500433859 | MYL4 | c.345G>T (p.Thr115=) c.56G>T c.*131G>T (n.*131G>T) c.438G>T (p.Thr146=) c.314-19G>T (n.314-19G>T) c.135G>T (p.Thr45=) | |
| 17 | g.47221714T>A | CA400022229 | MYL4 | c.346T>A (p.Phe116Ile) c.57T>A c.*132T>A (n.*132T>A) c.439T>A (p.Phe147Ile) c.314-18T>A (n.314-18T>A) c.136T>A (p.Phe46Ile) | gnomAD v4 |
| 17 | g.47221714T>C | CA400022227 | MYL4 | c.346T>C (p.Phe116Leu) c.57T>C c.*132T>C (n.*132T>C) c.439T>C (p.Phe147Leu) c.314-18T>C (n.314-18T>C) c.136T>C (p.Phe46Leu) | |
| 17 | g.47221714T>G | CA400022228 | MYL4 | c.346T>G (p.Phe116Val) c.57T>G c.*132T>G (n.*132T>G) c.439T>G (p.Phe147Val) c.314-18T>G (n.314-18T>G) c.136T>G (p.Phe46Val) | |
| 17 | g.47221715T>A | CA400022230 | MYL4 | c.347T>A (p.Phe116Tyr) c.58T>A c.*133T>A (n.*133T>A) c.440T>A (p.Phe147Tyr) c.314-17T>A (n.314-17T>A) c.137T>A (p.Phe46Tyr) | |
| 17 | g.47221715T>C | CA400022231 | MYL4 | c.347T>C (p.Phe116Ser) c.58T>C c.*133T>C (n.*133T>C) c.440T>C (p.Phe147Ser) c.314-17T>C (n.314-17T>C) c.137T>C (p.Phe46Ser) | |
| 17 | g.47221715T>G | CA400022232 | MYL4 | c.347T>G (p.Phe116Cys) c.58T>G c.*133T>G (n.*133T>G) c.440T>G (p.Phe147Cys) c.314-17T>G (n.314-17T>G) c.137T>G (p.Phe46Cys) | |
| 17 | g.47221716C>A | CA400022233 | MYL4 | c.348C>A (p.Phe116Leu) c.59C>A c.*134C>A (n.*134C>A) c.441C>A (p.Phe147Leu) c.314-16C>A (n.314-16C>A) c.138C>A (p.Phe46Leu) | gnomAD v4 |
| 17 | g.47221716C= | CA2262577593 | MYL4 | c.348C= (p.Phe116=) c.59C= c.*134C= (n.*134C=) c.441C= (p.Phe147=) c.314-16C= (n.314-16C=) c.138C= (p.Phe46=) | |
| 17 | g.47221716C>G | CA400022234 | MYL4 | c.348C>G (p.Phe116Leu) c.59C>G c.*134C>G (n.*134C>G) c.441C>G (p.Phe147Leu) c.314-16C>G (n.314-16C>G) c.138C>G (p.Phe46Leu) | |
| 17 | g.47221716C>T | CA8622724 | MYL4 | c.348C>T (p.Phe116=) c.59C>T c.*134C>T (n.*134C>T) c.441C>T (p.Phe147=) c.314-16C>T (n.314-16C>T) c.138C>T (p.Phe46=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47221717T>A | CA400022235 | MYL4 | c.349T>A (p.Leu117Met) c.60T>A c.*135T>A (n.*135T>A) c.442T>A (p.Leu148Met) c.314-15T>A (n.314-15T>A) c.139T>A (p.Leu47Met) | |
| 17 | g.47221717T>C | CA500433860 | MYL4 | c.349T>C (p.Leu117=) c.60T>C c.*135T>C (n.*135T>C) c.442T>C (p.Leu148=) c.314-15T>C (n.314-15T>C) c.139T>C (p.Leu47=) | |
| 17 | g.47221717T>G | CA400022236 | MYL4 | c.349T>G (p.Leu117Val) c.60T>G c.*135T>G (n.*135T>G) c.442T>G (p.Leu148Val) c.314-15T>G (n.314-15T>G) c.139T>G (p.Leu47Val) | |
| 17 | g.47221718T>A | CA400022239 | MYL4 | c.350T>A (p.Leu117Ter) c.61T>A c.*136T>A (n.*136T>A) c.443T>A (p.Leu148Ter) c.314-14T>A (n.314-14T>A) c.140T>A (p.Leu47Ter) | |
| 17 | g.47221718T>C | CA400022238 | MYL4 | c.350T>C (p.Leu117Ser) c.61T>C c.*136T>C (n.*136T>C) c.443T>C (p.Leu148Ser) c.314-14T>C (n.314-14T>C) c.140T>C (p.Leu47Ser) | |
| 17 | g.47221718T>G | CA400022237 | MYL4 | c.350T>G (p.Leu117Trp) c.61T>G c.*136T>G (n.*136T>G) c.443T>G (p.Leu148Trp) c.314-14T>G (n.314-14T>G) c.140T>G (p.Leu47Trp) | gnomAD v4 |
| 17 | g.47221719G>A | CA291225720 | MYL4 | c.351G>A (p.Leu117=) c.62G>A c.*137G>A (n.*137G>A) c.444G>A (p.Leu148=) c.314-13G>A (n.314-13G>A) c.141G>A (p.Leu47=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.47221719G>C | CA400022240 | MYL4 | c.351G>C (p.Leu117Phe) c.62G>C c.*137G>C (n.*137G>C) c.444G>C (p.Leu148Phe) c.314-13G>C (n.314-13G>C) c.141G>C (p.Leu47Phe) | |
| 17 | g.47221719G= | CA2262577594 | MYL4 | c.351G= (p.Leu117=) c.62G= c.*137G= (n.*137G=) c.444G= (p.Leu148=) c.314-13G= (n.314-13G=) c.141G= (p.Leu47=) | |
| 17 | g.47221719G>T | CA400022241 | MYL4 | c.351G>T (p.Leu117Phe) c.62G>T c.*137G>T (n.*137G>T) c.444G>T (p.Leu148Phe) c.314-13G>T (n.314-13G>T) c.141G>T (p.Leu47Phe) | |
| 17 | g.47221720C>A | CA400022242 | MYL4 | c.352C>A (p.Pro118Thr) c.63C>A c.*138C>A (n.*138C>A) c.445C>A (p.Pro149Thr) c.314-12C>A (n.314-12C>A) c.142C>A (p.Pro48Thr) | gnomAD v4 |
| 17 | g.47221720C= | CA2262577595 | MYL4 | c.352C= (p.Pro118=) c.63C= c.*138C= (n.*138C=) c.445C= (p.Pro149=) c.314-12C= (n.314-12C=) c.142C= (p.Pro48=) | |
| 17 | g.47221720C>G | CA400022243 | MYL4 | c.352C>G (p.Pro118Ala) c.63C>G c.*138C>G (n.*138C>G) c.445C>G (p.Pro149Ala) c.314-12C>G (n.314-12C>G) c.142C>G (p.Pro48Ala) | |
| 17 | g.47221720C>T | CA8622725 | MYL4 | c.352C>T (p.Pro118Ser) c.63C>T c.*138C>T (n.*138C>T) c.445C>T (p.Pro149Ser) c.314-12C>T (n.314-12C>T) c.142C>T (p.Pro48Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47221721C>A | CA291225725 | MYL4 | c.353C>A (p.Pro118His) c.64C>A c.*139C>A (n.*139C>A) c.446C>A (p.Pro149His) c.314-11C>A (n.314-11C>A) c.143C>A (p.Pro48His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47221721C= | CA2262577596 | MYL4 | c.353C= (p.Pro118=) c.64C= c.*139C= (n.*139C=) c.446C= (p.Pro149=) c.314-11C= (n.314-11C=) c.143C= (p.Pro48=) | |
| 17 | g.47221721C>G | CA8622726 | MYL4 | c.353C>G (p.Pro118Arg) c.64C>G c.*139C>G (n.*139C>G) c.446C>G (p.Pro149Arg) c.314-11C>G (n.314-11C>G) c.143C>G (p.Pro48Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47221721C>T | CA400022244 | MYL4 | c.353C>T (p.Pro118Leu) c.64C>T c.*139C>T (n.*139C>T) c.446C>T (p.Pro149Leu) c.314-11C>T (n.314-11C>T) c.143C>T (p.Pro48Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.47221722C>A | CA500433863 | MYL4 | c.354C>A (p.Pro118=) c.65C>A c.*140C>A (n.*140C>A) c.447C>A (p.Pro149=) c.314-10C>A (n.314-10C>A) c.144C>A (p.Pro48=) | |
| 17 | g.47221722C>G | CA500433862 | MYL4 | c.354C>G (p.Pro118=) c.65C>G c.*140C>G (n.*140C>G) c.447C>G (p.Pro149=) c.314-10C>G (n.314-10C>G) c.144C>G (p.Pro48=) | |
| 17 | g.47221722C>T | CA500433861 | MYL4 | c.354C>T (p.Pro118=) c.65C>T c.*140C>T (n.*140C>T) c.447C>T (p.Pro149=) c.314-10C>T (n.314-10C>T) c.144C>T (p.Pro48=) | |
| 17 | g.47221723A>C | CA400022245 | MYL4 | c.355A>C (p.Ile119Leu) c.66A>C c.*141A>C (n.*141A>C) c.448A>C (p.Ile150Leu) c.314-9A>C (n.314-9A>C) c.145A>C (p.Ile49Leu) | |
| 17 | g.47221723A>G | CA400022246 | MYL4 | c.355A>G (p.Ile119Val) c.66A>G c.*141A>G (n.*141A>G) c.448A>G (p.Ile150Val) c.314-9A>G (n.314-9A>G) c.145A>G (p.Ile49Val) | |
| 17 | g.47221723A>T | CA400022247 | MYL4 | c.355A>T (p.Ile119Phe) c.66A>T c.*141A>T (n.*141A>T) c.448A>T (p.Ile150Phe) c.314-9A>T (n.314-9A>T) c.145A>T (p.Ile49Phe) | |
| 17 | g.47221724T>A | CA400022249 | MYL4 | c.356T>A (p.Ile119Asn) c.67T>A c.*142T>A (n.*142T>A) c.449T>A (p.Ile150Asn) c.314-8T>A (n.314-8T>A) c.146T>A (p.Ile49Asn) | |
| 17 | g.47221724T>C | CA400022250 | MYL4 | c.356T>C (p.Ile119Thr) c.67T>C c.*142T>C (n.*142T>C) c.449T>C (p.Ile150Thr) c.314-8T>C (n.314-8T>C) c.146T>C (p.Ile49Thr) | |
| 17 | g.47221724T>G | CA400022248 | MYL4 | c.356T>G (p.Ile119Ser) c.67T>G c.*142T>G (n.*142T>G) c.449T>G (p.Ile150Ser) c.314-8T>G (n.314-8T>G) c.146T>G (p.Ile49Ser) | |
| 17 | g.47221725C>A | CA500433864 | MYL4 | c.357C>A (p.Ile119=) c.68C>A c.*143C>A (n.*143C>A) c.450C>A (p.Ile150=) c.314-7C>A (n.314-7C>A) c.147C>A (p.Ile49=) | |
| 17 | g.47221725C= | CA2262577597 | MYL4 | c.357C= (p.Ile119=) c.68C= c.*143C= (n.*143C=) c.450C= (p.Ile150=) c.314-7C= (n.314-7C=) c.147C= (p.Ile49=) | |
| 17 | g.47221725C>G | CA400022251 | MYL4 | c.357C>G (p.Ile119Met) c.68C>G c.*143C>G (n.*143C>G) c.450C>G (p.Ile150Met) c.314-7C>G (n.314-7C>G) c.147C>G (p.Ile49Met) | dbSNP |
| 17 | g.47221725C>T | CA500433865 | MYL4 | c.357C>T (p.Ile119=) c.68C>T c.*143C>T (n.*143C>T) c.450C>T (p.Ile150=) c.314-7C>T (n.314-7C>T) c.147C>T (p.Ile49=) | gnomAD v4 COSMIC |
| 17 | g.47221726C>A | CA400022252 | MYL4 | c.358C>A (p.Leu120Met) c.69C>A c.*144C>A (n.*144C>A) c.451C>A (p.Leu151Met) c.314-6C>A (n.314-6C>A) c.148C>A (p.Leu50Met) | |
| 17 | g.47221726C= | CA2262577598 | MYL4 | c.358C= (p.Leu120=) c.69C= c.*144C= (n.*144C=) c.451C= (p.Leu151=) c.314-6C= (n.314-6C=) c.148C= (p.Leu50=) | |
| 17 | g.47221726C>G | CA400022253 | MYL4 | c.358C>G (p.Leu120Val) c.69C>G c.*144C>G (n.*144C>G) c.451C>G (p.Leu151Val) c.314-6C>G (n.314-6C>G) c.148C>G (p.Leu50Val) | |
| 17 | g.47221726C>T | CA500433866 | MYL4 | c.358C>T (p.Leu120=) c.69C>T c.*144C>T (n.*144C>T) c.451C>T (p.Leu151=) c.314-6C>T (n.314-6C>T) c.148C>T (p.Leu50=) | dbSNP gnomAD v4 |
| 17 | g.47221727T>A | CA400022254 | MYL4 | c.359T>A (p.Leu120Gln) c.70T>A c.*145T>A (n.*145T>A) c.452T>A (p.Leu151Gln) c.314-5T>A (n.314-5T>A) c.149T>A (p.Leu50Gln) | |
| 17 | g.47221727T>C | CA400022255 | MYL4 | c.359T>C (p.Leu120Pro) c.70T>C c.*145T>C (n.*145T>C) c.452T>C (p.Leu151Pro) c.314-5T>C (n.314-5T>C) c.149T>C (p.Leu50Pro) | dbSNP |
| 17 | g.47221727T>G | CA400022256 | MYL4 | c.359T>G (p.Leu120Arg) c.70T>G c.*145T>G (n.*145T>G) c.452T>G (p.Leu151Arg) c.314-5T>G (n.314-5T>G) c.149T>G (p.Leu50Arg) | |
| 17 | g.47221727T= | CA2262577599 | MYL4 | c.359T= (p.Leu120=) c.70T= c.*145T= (n.*145T=) c.452T= (p.Leu151=) c.314-5T= (n.314-5T=) c.149T= (p.Leu50=) | |
| 17 | g.47221728G>A | CA500433867 | MYL4 | c.360G>A (p.Leu120=) c.71G>A c.*146G>A (n.*146G>A) c.453G>A (p.Leu151=) c.314-4G>A (n.314-4G>A) c.150G>A (p.Leu50=) | |
| 17 | g.47221728G>C | CA500433868 | MYL4 | c.360G>C (p.Leu120=) c.71G>C c.*146G>C (n.*146G>C) c.453G>C (p.Leu151=) c.314-4G>C (n.314-4G>C) c.150G>C (p.Leu50=) | |
| 17 | g.47221728G>T | CA500433869 | MYL4 | c.360G>T (p.Leu120=) c.71G>T c.*146G>T (n.*146G>T) c.453G>T (p.Leu151=) c.314-4G>T (n.314-4G>T) c.150G>T (p.Leu50=) | |
| 17 | g.47221728_47221729del | CA645573573 | MYL4 | c.360_361del (p.Gln121AlafsTer12) c.71_72del c.*146_*147del (n.*146_*147del) c.453_454del (p.Gln152AlafsTer12) c.314-4_314-3del (n.314-4_314-3del) c.150_151del (p.Gln51AlafsTer12) | COSMIC |
| 17 | g.47221729C>A | CA400022257 | MYL4 | c.361C>A (p.Gln121Lys) c.72C>A c.*147C>A (n.*147C>A) c.454C>A (p.Gln152Lys) c.314-3C>A (n.314-3C>A) c.151C>A (p.Gln51Lys) | |
| 17 | g.47221729C= | CA2262577600 | MYL4 | c.361C= (p.Gln121=) c.72C= c.*147C= (n.*147C=) c.454C= (p.Gln152=) c.314-3C= (n.314-3C=) c.151C= (p.Gln51=) | |
| 17 | g.47221729C>G | CA400022258 | MYL4 | c.361C>G (p.Gln121Glu) c.72C>G c.*147C>G (n.*147C>G) c.454C>G (p.Gln152Glu) c.314-3C>G (n.314-3C>G) c.151C>G (p.Gln51Glu) | |
| 17 | g.47221729C>T | CA8622727 | MYL4 | c.361C>T (p.Gln121Ter) c.72C>T c.*147C>T (n.*147C>T) c.454C>T (p.Gln152Ter) c.314-3C>T (n.314-3C>T) c.151C>T (p.Gln51Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.47221730A>C | CA400022259 | MYL4 | c.362A>C (p.Gln121Pro) c.73A>C c.*148A>C (n.*148A>C) c.455A>C (p.Gln152Pro) c.314-2A>C (n.314-2A>C) c.152A>C (p.Gln51Pro) | |
| 17 | g.47221730A>G | CA400022260 | MYL4 | c.362A>G (p.Gln121Arg) c.73A>G c.*148A>G (n.*148A>G) c.455A>G (p.Gln152Arg) c.314-2A>G (n.314-2A>G) c.152A>G (p.Gln51Arg) | |
| 17 | g.47221730A>T | CA400022261 | MYL4 | c.362A>T (p.Gln121Leu) c.73A>T c.*148A>T (n.*148A>T) c.455A>T (p.Gln152Leu) c.314-2A>T (n.314-2A>T) c.152A>T (p.Gln51Leu) | |
| 17 | g.47221731G>A | CA500433870 | MYL4 | c.363G>A (p.Gln121=) c.74G>A c.*149G>A (n.*149G>A) c.456G>A (p.Gln152=) c.314-1G>A (n.314-1G>A) c.153G>A (p.Gln51=) | |
| 17 | g.47221731G>C | CA400022263 | MYL4 | c.363G>C (p.Gln121His) c.74G>C c.*149G>C (n.*149G>C) c.456G>C (p.Gln152His) c.314-1G>C (n.314-1G>C) c.153G>C (p.Gln51His) | |
| 17 | g.47221731G>T | CA400022262 | MYL4 | c.363G>T (p.Gln121His) c.74G>T c.*149G>T (n.*149G>T) c.456G>T (p.Gln152His) c.314-1G>T (n.314-1G>T) c.153G>T (p.Gln51His) | |
| 17 | g.47221732C>A | CA400022264 | MYL4 | c.364C>A (p.His122Asn) c.75C>A c.*150C>A (n.*150C>A) c.457C>A (p.His153Asn) c.314C>A (p.Ala105Glu) c.154C>A (p.His52Asn) | |
| 17 | g.47221732C= | CA2262577601 | MYL4 | c.364C= (p.His122=) c.75C= c.*150C= (n.*150C=) c.457C= (p.His153=) c.314C= (p.Ala105=) c.154C= (p.His52=) | |
| 17 | g.47221732C>G | CA400022265 | MYL4 | c.364C>G (p.His122Asp) c.75C>G c.*150C>G (n.*150C>G) c.457C>G (p.His153Asp) c.314C>G (p.Ala105Gly) c.154C>G (p.His52Asp) | |
| 17 | g.47221732C>T | CA400022266 | MYL4 | c.364C>T (p.His122Tyr) c.75C>T c.*150C>T (n.*150C>T) c.457C>T (p.His153Tyr) c.314C>T (p.Ala105Val) c.154C>T (p.His52Tyr) | dbSNP gnomAD v2 |
| 17 | g.47221733A= | CA2262577602 | MYL4 | c.365A= (p.His122=) c.76A= c.*151A= (n.*151A=) c.458A= (p.His153=) c.315A= (p.Ala105=) c.155A= (p.His52=) | |
| 17 | g.47221733A>C | CA400022267 | MYL4 | c.365A>C (p.His122Pro) c.76A>C c.*151A>C (n.*151A>C) c.458A>C (p.His153Pro) c.315A>C (p.Ala105=) c.155A>C (p.His52Pro) | |
| 17 | g.47221733A>G | CA8622728 | MYL4 | c.365A>G (p.His122Arg) c.76A>G c.*151A>G (n.*151A>G) c.458A>G (p.His153Arg) c.315A>G (p.Ala105=) c.155A>G (p.His52Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47221733A>T | CA400022268 | MYL4 | c.365A>T (p.His122Leu) c.76A>T c.*151A>T (n.*151A>T) c.458A>T (p.His153Leu) c.315A>T (p.Ala105=) c.155A>T (p.His52Leu) | |
| 17 | g.47221734C>A | CA400022269 | MYL4 | c.366C>A (p.His122Gln) c.77C>A c.*152C>A (n.*152C>A) c.459C>A (p.His153Gln) c.316C>A (p.His106Asn) c.156C>A (p.His52Gln) | |
| 17 | g.47221734C>G | CA400022270 | MYL4 | c.366C>G (p.His122Gln) c.77C>G c.*152C>G (n.*152C>G) c.459C>G (p.His153Gln) c.316C>G (p.His106Asp) c.156C>G (p.His52Gln) | |
| 17 | g.47221734C>T | CA500433871 | MYL4 | c.366C>T (p.His122=) c.77C>T c.*152C>T (n.*152C>T) c.459C>T (p.His153=) c.316C>T (p.His106Tyr) c.156C>T (p.His52=) | |
| 17 | g.47221735A>C | CA400022271 | MYL4 | c.367A>C (p.Ile123Leu) c.78A>C c.*153A>C (n.*153A>C) c.460A>C (p.Ile154Leu) c.317A>C (p.His106Pro) c.157A>C (p.Ile53Leu) | gnomAD v4 |
| 17 | g.47221735A>G | CA400022272 | MYL4 | c.367A>G (p.Ile123Val) c.78A>G c.*153A>G (n.*153A>G) c.460A>G (p.Ile154Val) c.317A>G (p.His106Arg) c.157A>G (p.Ile53Val) | |
| 17 | g.47221735A>T | CA400022273 | MYL4 | c.367A>T (p.Ile123Phe) c.78A>T c.*153A>T (n.*153A>T) c.460A>T (p.Ile154Phe) c.317A>T (p.His106Leu) c.157A>T (p.Ile53Phe) | gnomAD v4 |
| 17 | g.47221736T>A | CA400022274 | MYL4 | c.368T>A (p.Ile123Asn) c.79T>A c.*154T>A (n.*154T>A) c.461T>A (p.Ile154Asn) c.318T>A (p.His106Gln) c.158T>A (p.Ile53Asn) | |
| 17 | g.47221736T>C | CA8622729 | MYL4 | c.368T>C (p.Ile123Thr) c.79T>C c.*154T>C (n.*154T>C) c.461T>C (p.Ile154Thr) c.318T>C (p.His106=) c.158T>C (p.Ile53Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47221736T>G | CA400022275 | MYL4 | c.368T>G (p.Ile123Ser) c.79T>G c.*154T>G (n.*154T>G) c.461T>G (p.Ile154Ser) c.318T>G (p.His106Gln) c.158T>G (p.Ile53Ser) | |
| 17 | g.47221736T= | CA2262577603 | MYL4 | c.368T= (p.Ile123=) c.79T= c.*154T= (n.*154T=) c.461T= (p.Ile154=) c.318T= (p.His106=) c.158T= (p.Ile53=) | |
| 17 | g.47221737T>A | CA500433873 | MYL4 | c.369T>A (p.Ile123=) c.80T>A c.*155T>A (n.*155T>A) c.462T>A (p.Ile154=) c.319T>A (p.Phe107Ile) c.159T>A (p.Ile53=) | |
| 17 | g.47221737T>C | CA500433872 | MYL4 | c.369T>C (p.Ile123=) c.80T>C c.*155T>C (n.*155T>C) c.462T>C (p.Ile154=) c.319T>C (p.Phe107Leu) c.159T>C (p.Ile53=) | gnomAD v4 |
| 17 | g.47221737T>G | CA400022276 | MYL4 | c.369T>G (p.Ile123Met) c.80T>G c.*155T>G (n.*155T>G) c.462T>G (p.Ile154Met) c.319T>G (p.Phe107Val) c.159T>G (p.Ile53Met) | |
| 17 | g.47221738T>A | CA400022277 | MYL4 | c.370T>A (p.Ser124Thr) c.81T>A c.*156T>A (n.*156T>A) c.463T>A (p.Ser155Thr) c.320T>A (p.Phe107Tyr) c.160T>A (p.Ser54Thr) | |
| 17 | g.47221738T>C | CA8622730 | MYL4 | c.370T>C (p.Ser124Pro) c.81T>C c.*156T>C (n.*156T>C) c.463T>C (p.Ser155Pro) c.320T>C (p.Phe107Ser) c.160T>C (p.Ser54Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.47221738T>G | CA400022278 | MYL4 | c.370T>G (p.Ser124Ala) c.81T>G c.*156T>G (n.*156T>G) c.463T>G (p.Ser155Ala) c.320T>G (p.Phe107Cys) c.160T>G (p.Ser54Ala) | ClinVar dbSNP gnomAD v4 |
| 17 | g.47221738T= | CA2262577604 | MYL4 | c.370T= (p.Ser124=) c.81T= c.*156T= (n.*156T=) c.463T= (p.Ser155=) c.320T= (p.Phe107=) c.160T= (p.Ser54=) | |
| 17 | g.47221739C>A | CA400022279 | MYL4 | c.371C>A (p.Ser124Tyr) c.82C>A c.*157C>A (n.*157C>A) c.464C>A (p.Ser155Tyr) c.321C>A (p.Phe107Leu) c.161C>A (p.Ser54Tyr) | |
| 17 | g.47221739C= | CA2262577605 | MYL4 | c.371C= (p.Ser124=) c.82C= c.*157C= (n.*157C=) c.464C= (p.Ser155=) c.321C= (p.Phe107=) c.161C= (p.Ser54=) | |
| 17 | g.47221739C>G | CA400022280 | MYL4 | c.371C>G (p.Ser124Cys) c.82C>G c.*157C>G (n.*157C>G) c.464C>G (p.Ser155Cys) c.321C>G (p.Phe107Leu) c.161C>G (p.Ser54Cys) | |
| 17 | g.47221739C>T | CA400022281 | MYL4 | c.371C>T (p.Ser124Phe) c.82C>T c.*157C>T (n.*157C>T) c.464C>T (p.Ser155Phe) c.321C>T (p.Phe107=) c.161C>T (p.Ser54Phe) | ClinVar dbSNP gnomAD v4 |
| 17 | g.47221740C>A | CA500433874 | MYL4 | c.372C>A (p.Ser124=) c.83C>A c.*158C>A (n.*158C>A) c.465C>A (p.Ser155=) c.322C>A (p.Pro108Thr) c.162C>A (p.Ser54=) | |
| 17 | g.47221740C>G | CA500433875 | MYL4 | c.372C>G (p.Ser124=) c.83C>G c.*158C>G (n.*158C>G) c.465C>G (p.Ser155=) c.322C>G (p.Pro108Ala) c.162C>G (p.Ser54=) | gnomAD v4 |
| 17 | g.47221740C>T | CA500433876 | MYL4 | c.372C>T (p.Ser124=) c.83C>T c.*158C>T (n.*158C>T) c.465C>T (p.Ser155=) c.322C>T (p.Pro108Ser) c.162C>T (p.Ser54=) | gnomAD v4 |
| 17 | g.47221741C>A | CA400022282 | MYL4 | c.373C>A (p.Arg125Ser) c.84C>A c.*159C>A (n.*159C>A) c.466C>A (p.Arg156Ser) c.323C>A (p.Pro108Gln) c.163C>A (p.Arg55Ser) | gnomAD v4 |
| 17 | g.47221741C= | CA2262577606 | MYL4 | c.373C= (p.Arg125=) c.84C= c.*159C= (n.*159C=) c.466C= (p.Arg156=) c.323C= (p.Pro108=) c.163C= (p.Arg55=) | |
| 17 | g.47221741C>G | CA400022283 | MYL4 | c.373C>G (p.Arg125Gly) c.84C>G c.*159C>G (n.*159C>G) c.466C>G (p.Arg156Gly) c.323C>G (p.Pro108Arg) c.163C>G (p.Arg55Gly) | gnomAD v4 |
| 17 | g.47221741C>T | CA8622731 | MYL4 | c.373C>T (p.Arg125Cys) c.84C>T c.*159C>T (n.*159C>T) c.466C>T (p.Arg156Cys) c.323C>T (p.Pro108Leu) c.163C>T (p.Arg55Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47221742G>A | CA8622732 | MYL4 | c.374G>A (p.Arg125His) c.85G>A c.*160G>A (n.*160G>A) c.467G>A (p.Arg156His) c.324G>A (p.Pro108=) c.164G>A (p.Arg55His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.47221742G>C | CA400022284 | MYL4 | c.374G>C (p.Arg125Pro) c.85G>C c.*160G>C (n.*160G>C) c.467G>C (p.Arg156Pro) c.324G>C (p.Pro108=) c.164G>C (p.Arg55Pro) | |
| 17 | g.47221742G= | CA2262577607 | MYL4 | c.374G= (p.Arg125=) c.85G= c.*160G= (n.*160G=) c.467G= (p.Arg156=) c.324G= (p.Pro108=) c.164G= (p.Arg55=) | |
| 17 | g.47221742G>T | CA400022285 | MYL4 | c.374G>T (p.Arg125Leu) c.85G>T c.*160G>T (n.*160G>T) c.467G>T (p.Arg156Leu) c.324G>T (p.Pro108=) c.164G>T (p.Arg55Leu) | gnomAD v4 |
| 17 | g.47221743C>A | CA500433877 | MYL4 | c.375C>A (p.Arg125=) c.86C>A c.*161C>A (n.*161C>A) c.468C>A (p.Arg156=) c.325C>A (p.Gln109Lys) c.165C>A (p.Arg55=) | |
| 17 | g.47221743C>G | CA500433878 | MYL4 | c.375C>G (p.Arg125=) c.86C>G c.*161C>G (n.*161C>G) c.468C>G (p.Arg156=) c.325C>G (p.Gln109Glu) c.165C>G (p.Arg55=) | |
| 17 | g.47221743C>T | CA500433879 | MYL4 | c.375C>T (p.Arg125=) c.86C>T c.*161C>T (n.*161C>T) c.468C>T (p.Arg156=) c.325C>T (p.Gln109Ter) c.165C>T (p.Arg55=) | |
| 17 | g.47221744A= | CA2262577608 | MYL4 | c.376A= (p.Asn126=) c.87A= c.*162A= (n.*162A=) c.469A= (p.Asn157=) c.326A= (p.Gln109=) c.166A= (p.Asn56=) | |
| 17 | g.47221744A>C | CA400022286 | MYL4 | c.376A>C (p.Asn126His) c.87A>C c.*162A>C (n.*162A>C) c.469A>C (p.Asn157His) c.326A>C (p.Gln109Pro) c.166A>C (p.Asn56His) | |
| 17 | g.47221744A>G | CA291225738 | MYL4 | c.376A>G (p.Asn126Asp) c.87A>G c.*162A>G (n.*162A>G) c.469A>G (p.Asn157Asp) c.326A>G (p.Gln109Arg) c.166A>G (p.Asn56Asp) | ClinVar dbSNP gnomAD v4 |
| 17 | g.47221744A>T | CA400022287 | MYL4 | c.376A>T (p.Asn126Tyr) c.87A>T c.*162A>T (n.*162A>T) c.469A>T (p.Asn157Tyr) c.326A>T (p.Gln109Leu) c.166A>T (p.Asn56Tyr) | |
| 17 | g.47221745A>C | CA400022290 | MYL4 | c.377A>C (p.Asn126Thr) c.88A>C c.*163A>C (n.*163A>C) c.470A>C (p.Asn157Thr) c.327A>C (p.Gln109His) c.167A>C (p.Asn56Thr) | |
| 17 | g.47221745A>G | CA400022288 | MYL4 | c.377A>G (p.Asn126Ser) c.88A>G c.*163A>G (n.*163A>G) c.470A>G (p.Asn157Ser) c.327A>G (p.Gln109=) c.167A>G (p.Asn56Ser) | |
| 17 | g.47221745A>T | CA400022289 | MYL4 | c.377A>T (p.Asn126Ile) c.88A>T c.*163A>T (n.*163A>T) c.470A>T (p.Asn157Ile) c.327A>T (p.Gln109His) c.167A>T (p.Asn56Ile) | |
| 17 | g.47221746C>A | CA400022291 | MYL4 | c.378C>A (p.Asn126Lys) c.89C>A c.*164C>A (n.*164C>A) c.471C>A (p.Asn157Lys) c.328C>A (p.Gln110Lys) c.168C>A (p.Asn56Lys) | |
| 17 | g.47221746C>G | CA400022292 | MYL4 | c.378C>G (p.Asn126Lys) c.89C>G c.*164C>G (n.*164C>G) c.471C>G (p.Asn157Lys) c.328C>G (p.Gln110Glu) c.168C>G (p.Asn56Lys) | |
| 17 | g.47221746C>T | CA500433881 | MYL4 | c.378C>T (p.Asn126=) c.89C>T c.*164C>T (n.*164C>T) c.471C>T (p.Asn157=) c.328C>T (p.Gln110Ter) c.168C>T (p.Asn56=) | gnomAD v4 |
| 17 | g.47221747A>C | CA400022293 | MYL4 | c.379A>C (p.Lys127Gln) c.90A>C c.*165A>C (n.*165A>C) c.472A>C (p.Lys158Gln) c.329A>C (p.Gln110Pro) c.169A>C (p.Lys57Gln) | |
| 17 | g.47221747A>G | CA400022294 | MYL4 | c.379A>G (p.Lys127Glu) c.90A>G c.*165A>G (n.*165A>G) c.472A>G (p.Lys158Glu) c.329A>G (p.Gln110Arg) c.169A>G (p.Lys57Glu) | |
| 17 | g.47221747A>T | CA400022295 | MYL4 | c.379A>T (p.Lys127Ter) c.90A>T c.*165A>T (n.*165A>T) c.472A>T (p.Lys158Ter) c.329A>T (p.Gln110Leu) c.169A>T (p.Lys57Ter) | |
| 17 | g.47221748A>C | CA400022296 | MYL4 | c.380A>C (p.Lys127Thr) c.91A>C c.*166A>C (n.*166A>C) c.473A>C (p.Lys158Thr) c.330A>C (p.Gln110His) c.170A>C (p.Lys57Thr) | |
| 17 | g.47221748A>G | CA400022297 | MYL4 | c.380A>G (p.Lys127Arg) c.91A>G c.*166A>G (n.*166A>G) c.473A>G (p.Lys158Arg) c.330A>G (p.Gln110=) c.170A>G (p.Lys57Arg) | |
| 17 | g.47221748A>T | CA400022298 | MYL4 | c.380A>T (p.Lys127Met) c.91A>T c.*166A>T (n.*166A>T) c.473A>T (p.Lys158Met) c.330A>T (p.Gln110His) c.170A>T (p.Lys57Met) | |
| 17 | g.47221749G>A | CA8622733 | MYL4 | c.381G>A (p.Lys127=) c.92G>A c.*167G>A (n.*167G>A) c.474G>A (p.Lys158=) c.331G>A (p.Gly111Arg) c.171G>A (p.Lys57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47221749G>C | CA400022299 | MYL4 | c.381G>C (p.Lys127Asn) c.92G>C c.*167G>C (n.*167G>C) c.474G>C (p.Lys158Asn) c.331G>C (p.Gly111Arg) c.171G>C (p.Lys57Asn) | |
| 17 | g.47221749G= | CA2262577609 | MYL4 | c.381G= (p.Lys127=) c.92G= c.*167G= (n.*167G=) c.474G= (p.Lys158=) c.331G= (p.Gly111=) c.171G= (p.Lys57=) | |
| 17 | g.47221749G>T | CA400022300 | MYL4 | c.381G>T (p.Lys127Asn) c.92G>T c.*167G>T (n.*167G>T) c.474G>T (p.Lys158Asn) c.331G>T (p.Gly111Ter) c.171G>T (p.Lys57Asn) | |
| 17 | g.47221750G>A | CA400022302 | MYL4 | c.382G>A (p.Glu128Lys) c.93G>A c.*168G>A (n.*168G>A) c.475G>A (p.Glu159Lys) c.332G>A (p.Gly111Glu) c.172G>A (p.Glu58Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.47221750G>C | CA400022303 | MYL4 | c.382G>C (p.Glu128Gln) c.93G>C c.*168G>C (n.*168G>C) c.475G>C (p.Glu159Gln) c.332G>C (p.Gly111Ala) c.172G>C (p.Glu58Gln) | gnomAD v4 |
| 17 | g.47221750G= | CA2262577610 | MYL4 | c.382G= (p.Glu128=) c.93G= c.*168G= (n.*168G=) c.475G= (p.Glu159=) c.332G= (p.Gly111=) c.172G= (p.Glu58=) | |
| 17 | g.47221750G>T | CA400022301 | MYL4 | c.382G>T (p.Glu128Ter) c.93G>T c.*168G>T (n.*168G>T) c.475G>T (p.Glu159Ter) c.332G>T (p.Gly111Val) c.172G>T (p.Glu58Ter) | |
| 17 | g.47221751A>C | CA400022304 | MYL4 | c.383A>C (p.Glu128Ala) c.94A>C c.*169A>C (n.*169A>C) c.476A>C (p.Glu159Ala) c.333A>C (p.Gly111=) c.173A>C (p.Glu58Ala) | |
| 17 | g.47221751A>G | CA400022305 | MYL4 | c.383A>G (p.Glu128Gly) c.94A>G c.*169A>G (n.*169A>G) c.476A>G (p.Glu159Gly) c.333A>G (p.Gly111=) c.173A>G (p.Glu58Gly) | |
| 17 | g.47221751A>T | CA400022306 | MYL4 | c.383A>T (p.Glu128Val) c.94A>T c.*169A>T (n.*169A>T) c.476A>T (p.Glu159Val) c.333A>T (p.Gly111=) c.173A>T (p.Glu58Val) | |
| 17 | g.47221752G>A | CA500433883 | MYL4 | c.384G>A (p.Glu128=) c.95G>A c.*170G>A (n.*170G>A) c.477G>A (p.Glu159=) c.334G>A (p.Ala112Thr) c.174G>A (p.Glu58=) | |
| 17 | g.47221752G>C | CA400022307 | MYL4 | c.384G>C (p.Glu128Asp) c.95G>C c.*170G>C (n.*170G>C) c.477G>C (p.Glu159Asp) c.334G>C (p.Ala112Pro) c.174G>C (p.Glu58Asp) | |
| 17 | g.47221752G>T | CA400022308 | MYL4 | c.384G>T (p.Glu128Asp) c.95G>T c.*170G>T (n.*170G>T) c.477G>T (p.Glu159Asp) c.334G>T (p.Ala112Ser) c.174G>T (p.Glu58Asp) | dbSNP |
| 17 | g.47221753C>A | CA400022309 | MYL4 | c.385C>A (p.Gln129Lys) c.96C>A c.*171C>A (n.*171C>A) c.478C>A (p.Gln160Lys) c.335C>A (p.Ala112Glu) c.175C>A (p.Gln59Lys) | |
| 17 | g.47221753C>G | CA400022310 | MYL4 | c.385C>G (p.Gln129Glu) c.96C>G c.*171C>G (n.*171C>G) c.478C>G (p.Gln160Glu) c.335C>G (p.Ala112Gly) c.175C>G (p.Gln59Glu) | |
| 17 | g.47221753C>T | CA400022311 | MYL4 | c.385C>T (p.Gln129Ter) c.96C>T c.*171C>T (n.*171C>T) c.478C>T (p.Gln160Ter) c.335C>T (p.Ala112Val) c.175C>T (p.Gln59Ter) | |
| 17 | g.47221754A= | CA2262577611 | MYL4 | c.386A= (p.Gln129=) c.97A= c.*172A= (n.*172A=) c.479A= (p.Gln160=) c.336A= (p.Ala112=) c.176A= (p.Gln59=) | |
| 17 | g.47221754A>C | CA400022312 | MYL4 | c.386A>C (p.Gln129Pro) c.97A>C c.*172A>C (n.*172A>C) c.479A>C (p.Gln160Pro) c.336A>C (p.Ala112=) c.176A>C (p.Gln59Pro) | |
| 17 | g.47221754A>G | CA400022313 | MYL4 | c.386A>G (p.Gln129Arg) c.97A>G c.*172A>G (n.*172A>G) c.479A>G (p.Gln160Arg) c.336A>G (p.Ala112=) c.176A>G (p.Gln59Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.47221754A>T | CA400022314 | MYL4 | c.386A>T (p.Gln129Leu) c.97A>T c.*172A>T (n.*172A>T) c.479A>T (p.Gln160Leu) c.336A>T (p.Ala112=) c.176A>T (p.Gln59Leu) | |
| 17 | g.47221755G>A | CA500433888 | MYL4 | c.387G>A (p.Gln129=) c.98G>A c.*173G>A (n.*173G>A) c.480G>A (p.Gln160=) c.337G>A (p.Gly113Arg) c.177G>A (p.Gln59=) | COSMIC |
| 17 | g.47221755G>C | CA400022315 | MYL4 | c.387G>C (p.Gln129His) c.98G>C c.*173G>C (n.*173G>C) c.480G>C (p.Gln160His) c.337G>C (p.Gly113Arg) c.177G>C (p.Gln59His) | |
| 17 | g.47221755G>T | CA400022316 | MYL4 | c.387G>T (p.Gln129His) c.98G>T c.*173G>T (n.*173G>T) c.480G>T (p.Gln160His) c.337G>T (p.Gly113Trp) c.177G>T (p.Gln59His) | |
| 17 | g.47221756G>A | CA400022319 | MYL4 | c.388G>A (p.Gly130Ser) c.99G>A c.*174G>A (n.*174G>A) c.481G>A (p.Gly161Ser) c.338G>A (p.Gly113Glu) c.178G>A (p.Gly60Ser) | gnomAD v4 |
| 17 | g.47221756G>C | CA400022318 | MYL4 | c.388G>C (p.Gly130Arg) c.99G>C c.*174G>C (n.*174G>C) c.481G>C (p.Gly161Arg) c.338G>C (p.Gly113Ala) c.178G>C (p.Gly60Arg) | |
| 17 | g.47221756G>T | CA400022317 | MYL4 | c.388G>T (p.Gly130Cys) c.99G>T c.*174G>T (n.*174G>T) c.481G>T (p.Gly161Cys) c.338G>T (p.Gly113Val) c.178G>T (p.Gly60Cys) | |
| 17 | g.47221757G>A | CA400022320 | MYL4 | c.389G>A (p.Gly130Asp) c.100G>A c.*175G>A (n.*175G>A) c.482G>A (p.Gly161Asp) c.339G>A (p.Gly113=) c.179G>A (p.Gly60Asp) | |
| 17 | g.47221757G>C | CA400022321 | MYL4 | c.389G>C (p.Gly130Ala) c.100G>C c.*175G>C (n.*175G>C) c.482G>C (p.Gly161Ala) c.339G>C (p.Gly113=) c.179G>C (p.Gly60Ala) | |
| 17 | g.47221757G>T | CA400022322 | MYL4 | c.389G>T (p.Gly130Val) c.100G>T c.*175G>T (n.*175G>T) c.482G>T (p.Gly161Val) c.339G>T (p.Gly113=) c.179G>T (p.Gly60Val) | |
| 17 | g.47221758C>A | CA500433893 | MYL4 | c.390C>A (p.Gly130=) c.101C>A c.*176C>A (n.*176C>A) c.483C>A (p.Gly161=) c.340C>A (p.His114Asn) c.180C>A (p.Gly60=) | |
| 17 | g.47221758C>G | CA500433894 | MYL4 | c.390C>G (p.Gly130=) c.101C>G c.*176C>G (n.*176C>G) c.483C>G (p.Gly161=) c.340C>G (p.His114Asp) c.180C>G (p.Gly60=) | |
| 17 | g.47221758C>T | CA500433892 | MYL4 | c.390C>T (p.Gly130=) c.101C>T c.*176C>T (n.*176C>T) c.483C>T (p.Gly161=) c.340C>T (p.His114Tyr) c.180C>T (p.Gly60=) | |
| 17 | g.47221759A>C | CA400022323 | MYL4 | c.391A>C (p.Thr131Pro) c.102A>C c.*177A>C (n.*177A>C) c.484A>C (p.Thr162Pro) c.341A>C (p.His114Pro) c.181A>C (p.Thr61Pro) | |
| 17 | g.47221759A>G | CA400022324 | MYL4 | c.391A>G (p.Thr131Ala) c.102A>G c.*177A>G (n.*177A>G) c.484A>G (p.Thr162Ala) c.341A>G (p.His114Arg) c.181A>G (p.Thr61Ala) | gnomAD v4 |
| 17 | g.47221759A>T | CA400022325 | MYL4 | c.391A>T (p.Thr131Ser) c.102A>T c.*177A>T (n.*177A>T) c.484A>T (p.Thr162Ser) c.341A>T (p.His114Leu) c.181A>T (p.Thr61Ser) | |
| 17 | g.47221760C>A | CA400022326 | MYL4 | c.392C>A (p.Thr131Asn) c.103C>A c.*178C>A (n.*178C>A) c.485C>A (p.Thr162Asn) c.342C>A (p.His114Gln) c.182C>A (p.Thr61Asn) | gnomAD v4 |
| 17 | g.47221760C>G | CA400022327 | MYL4 | c.392C>G (p.Thr131Ser) c.103C>G c.*178C>G (n.*178C>G) c.485C>G (p.Thr162Ser) c.342C>G (p.His114Gln) c.182C>G (p.Thr61Ser) | gnomAD v4 |
| 17 | g.47221760C>T | CA400022328 | MYL4 | c.392C>T (p.Thr131Ile) c.103C>T c.*178C>T (n.*178C>T) c.485C>T (p.Thr162Ile) c.342C>T (p.His114=) c.182C>T (p.Thr61Ile) | ClinVar dbSNP gnomAD v4 |
| 17 | g.47221761C>A | CA500433899 | MYL4 | c.393C>A (p.Thr131=) c.104C>A c.*179C>A (n.*179C>A) c.486C>A (p.Thr162=) c.343C>A (p.Leu115Ile) c.183C>A (p.Thr61=) | dbSNP gnomAD v4 |
| 17 | g.47221761C= | CA2262577612 | MYL4 | c.393C= (p.Thr131=) c.104C= c.*179C= (n.*179C=) c.486C= (p.Thr162=) c.343C= (p.Leu115=) c.183C= (p.Thr61=) | |
| 17 | g.47221761C>G | CA500433896 | MYL4 | c.393C>G (p.Thr131=) c.104C>G c.*179C>G (n.*179C>G) c.486C>G (p.Thr162=) c.343C>G (p.Leu115Val) c.183C>G (p.Thr61=) | |
| 17 | g.47221761C>T | CA500433897 | MYL4 | c.393C>T (p.Thr131=) c.104C>T c.*179C>T (n.*179C>T) c.486C>T (p.Thr162=) c.343C>T (p.Leu115=) c.183C>T (p.Thr61=) | gnomAD v4 |
| 17 | g.47221762T>A | CA400022329 | MYL4 | c.394T>A (p.Tyr132Asn) c.105T>A c.*180T>A (n.*180T>A) c.487T>A (p.Tyr163Asn) c.344T>A (p.Leu115Gln) c.184T>A (p.Tyr62Asn) | gnomAD v4 |
| 17 | g.47221762T>C | CA400022332 | MYL4 | c.394T>C (p.Tyr132His) c.105T>C c.*180T>C (n.*180T>C) c.487T>C (p.Tyr163His) c.344T>C (p.Leu115Pro) c.184T>C (p.Tyr62His) | |
| 17 | g.47221762T>G | CA400022334 | MYL4 | c.394T>G (p.Tyr132Asp) c.105T>G c.*180T>G (n.*180T>G) c.487T>G (p.Tyr163Asp) c.344T>G (p.Leu115Arg) c.184T>G (p.Tyr62Asp) | |
| 17 | g.47221763A= | CA2262577613 | MYL4 | c.395A= (p.Tyr132=) c.106A= c.*181A= (n.*181A=) c.488A= (p.Tyr163=) c.345A= (p.Leu115=) c.185A= (p.Tyr62=) | |
| 17 | g.47221763A>C | CA400022339 | MYL4 | c.395A>C (p.Tyr132Ser) c.106A>C c.*181A>C (n.*181A>C) c.488A>C (p.Tyr163Ser) c.345A>C (p.Leu115=) c.185A>C (p.Tyr62Ser) | |
| 17 | g.47221763A>G | CA400022337 | MYL4 | c.395A>G (p.Tyr132Cys) c.106A>G c.*181A>G (n.*181A>G) c.488A>G (p.Tyr163Cys) c.345A>G (p.Leu115=) c.185A>G (p.Tyr62Cys) | |
| 17 | g.47221763A>T | CA8622734 | MYL4 | c.395A>T (p.Tyr132Phe) c.106A>T c.*181A>T (n.*181A>T) c.488A>T (p.Tyr163Phe) c.345A>T (p.Leu115=) c.185A>T (p.Tyr62Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.47221764T>A | CA400022341 | MYL4 | c.396T>A (p.Tyr132Ter) c.107T>A c.*182T>A (n.*182T>A) c.489T>A (p.Tyr163Ter) c.346T>A (p.Ter116Arg) c.186T>A (p.Tyr62Ter) | |
| 17 | g.47221764T>C | CA8622735 | MYL4 | c.396T>C (p.Tyr132=) c.107T>C c.*182T>C (n.*182T>C) c.489T>C (p.Tyr163=) c.346T>C (p.Ter116Arg) c.186T>C (p.Tyr62=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.47221764T>G | CA400022343 | MYL4 | c.396T>G (p.Tyr132Ter) c.107T>G c.*182T>G (n.*182T>G) c.489T>G (p.Tyr163Ter) c.346T>G (p.Ter116Gly) c.186T>G (p.Tyr62Ter) | |
| 17 | g.47221764T= | CA2262577614 | MYL4 | c.396T= (p.Tyr132=) c.107T= c.*182T= (n.*182T=) c.489T= (p.Tyr163=) c.346T= (p.Ter116=) c.186T= (p.Tyr62=) | |
| 17 | g.47221765G>A | CA400022347 | MYL4 | c.397G>A (p.Glu133Lys) c.108G>A c.*183G>A (n.*183G>A) c.490G>A (p.Glu164Lys) c.347G>A (p.Ter116=) c.187G>A (p.Glu63Lys) | |
| 17 | g.47221765G>C | CA400022349 | MYL4 | c.397G>C (p.Glu133Gln) c.108G>C c.*183G>C (n.*183G>C) c.490G>C (p.Glu164Gln) c.347G>C (p.Ter116Ser) c.187G>C (p.Glu63Gln) | |
| 17 | g.47221765G>T | CA400022350 | MYL4 | c.397G>T (p.Glu133Ter) c.108G>T c.*183G>T (n.*183G>T) c.490G>T (p.Glu164Ter) c.347G>T (p.Ter116Leu) c.187G>T (p.Glu63Ter) | |
| 17 | g.47221766A>C | CA400022354 | MYL4 | c.398A>C (p.Glu133Ala) c.109A>C c.*184A>C (n.*184A>C) c.491A>C (p.Glu164Ala) c.348A>C (p.Ter116Cys) c.188A>C (p.Glu63Ala) | |
| 17 | g.47221766A>G | CA400022356 | MYL4 | c.398A>G (p.Glu133Gly) c.109A>G c.*184A>G (n.*184A>G) c.491A>G (p.Glu164Gly) c.348A>G (p.Ter116Trp) c.188A>G (p.Glu63Gly) | |
| 17 | g.47221766A>T | CA400022357 | MYL4 | c.398A>T (p.Glu133Val) c.109A>T c.*184A>T (n.*184A>T) c.491A>T (p.Glu164Val) c.348A>T (p.Ter116Cys) c.188A>T (p.Glu63Val) | |
| 17 | g.47221767G>A | CA500433905 | MYL4 | c.399G>A (p.Glu133=) c.110G>A c.*185G>A (n.*185G>A) c.492G>A (p.Glu164=) c.*1G>A (n.*1G>A) c.189G>A (p.Glu63=) | gnomAD v4 |
| 17 | g.47221767G>C | CA400022359 | MYL4 | c.399G>C (p.Glu133Asp) c.110G>C c.*185G>C (n.*185G>C) c.492G>C (p.Glu164Asp) c.*1G>C (n.*1G>C) c.189G>C (p.Glu63Asp) | |
| 17 | g.47221767G>T | CA400022361 | MYL4 | c.399G>T (p.Glu133Asp) c.110G>T c.*185G>T (n.*185G>T) c.492G>T (p.Glu164Asp) c.*1G>T (n.*1G>T) c.189G>T (p.Glu63Asp) | |
| 17 | g.47221768G>A | CA400022363 | MYL4 | c.400G>A (p.Asp134Asn) c.111G>A c.*186G>A (n.*186G>A) c.493G>A (p.Asp165Asn) c.*2G>A (n.*2G>A) c.190G>A (p.Asp64Asn) | |
| 17 | g.47221768G>C | CA400022365 | MYL4 | c.400G>C (p.Asp134His) c.111G>C c.*186G>C (n.*186G>C) c.493G>C (p.Asp165His) c.*2G>C (n.*2G>C) c.190G>C (p.Asp64His) | |
| 17 | g.47221768G>T | CA400022367 | MYL4 | c.400G>T (p.Asp134Tyr) c.111G>T c.*186G>T (n.*186G>T) c.493G>T (p.Asp165Tyr) c.*2G>T (n.*2G>T) c.190G>T (p.Asp64Tyr) | |
| 17 | g.47221769A>C | CA400022369 | MYL4 | c.401A>C (p.Asp134Ala) c.112A>C c.*187A>C (n.*187A>C) c.494A>C (p.Asp165Ala) c.*3A>C (n.*3A>C) c.191A>C (p.Asp64Ala) | |
| 17 | g.47221769A>G | CA400022371 | MYL4 | c.401A>G (p.Asp134Gly) c.112A>G c.*187A>G (n.*187A>G) c.494A>G (p.Asp165Gly) c.*3A>G (n.*3A>G) c.191A>G (p.Asp64Gly) | |
| 17 | g.47221769A>T | CA400022373 | MYL4 | c.401A>T (p.Asp134Val) c.112A>T c.*187A>T (n.*187A>T) c.494A>T (p.Asp165Val) c.*3A>T (n.*3A>T) c.191A>T (p.Asp64Val) | |
| 17 | g.47221770C>A | CA400022376 | MYL4 | c.402C>A (p.Asp134Glu) c.113C>A c.*188C>A (n.*188C>A) c.495C>A (p.Asp165Glu) c.*4C>A (n.*4C>A) c.192C>A (p.Asp64Glu) | |
| 17 | g.47221770C= | CA2262577615 | MYL4 | c.402C= (p.Asp134=) c.113C= c.*188C= (n.*188C=) c.495C= (p.Asp165=) c.*4C= (n.*4C=) c.192C= (p.Asp64=) | |
| 17 | g.47221770C>G | CA400022377 | MYL4 | c.402C>G (p.Asp134Glu) c.113C>G c.*188C>G (n.*188C>G) c.495C>G (p.Asp165Glu) c.*4C>G (n.*4C>G) c.192C>G (p.Asp64Glu) | |
| 17 | g.47221770C>T | CA500433909 | MYL4 | c.402C>T (p.Asp134=) c.113C>T c.*188C>T (n.*188C>T) c.495C>T (p.Asp165=) c.*4C>T (n.*4C>T) c.192C>T (p.Asp64=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.47221771T>A | CA400022380 | MYL4 | c.403T>A (p.Phe135Ile) c.114T>A c.*189T>A (n.*189T>A) c.496T>A (p.Phe166Ile) c.*5T>A (n.*5T>A) c.193T>A (p.Phe65Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.47221771T>C | CA400022382 | MYL4 | c.403T>C (p.Phe135Leu) c.114T>C c.*189T>C (n.*189T>C) c.496T>C (p.Phe166Leu) c.*5T>C (n.*5T>C) c.193T>C (p.Phe65Leu) | |
| 17 | g.47221771T>G | CA400022384 | MYL4 | c.403T>G (p.Phe135Val) c.114T>G c.*189T>G (n.*189T>G) c.496T>G (p.Phe166Val) c.*5T>G (n.*5T>G) c.193T>G (p.Phe65Val) | |
| 17 | g.47221771T= | CA2262577616 | MYL4 | c.403T= (p.Phe135=) c.114T= c.*189T= (n.*189T=) c.496T= (p.Phe166=) c.*5T= (n.*5T=) c.193T= (p.Phe65=) | |
| 17 | g.47221772T>A | CA400022386 | MYL4 | c.404T>A (p.Phe135Tyr) c.115T>A c.*190T>A (n.*190T>A) c.497T>A (p.Phe166Tyr) c.*6T>A (n.*6T>A) c.194T>A (p.Phe65Tyr) | |
| 17 | g.47221772T>C | CA400022388 | MYL4 | c.404T>C (p.Phe135Ser) c.115T>C c.*190T>C (n.*190T>C) c.497T>C (p.Phe166Ser) c.*6T>C (n.*6T>C) c.194T>C (p.Phe65Ser) | |
| 17 | g.47221772T>G | CA400022391 | MYL4 | c.404T>G (p.Phe135Cys) c.115T>G c.*190T>G (n.*190T>G) c.497T>G (p.Phe166Cys) c.*6T>G (n.*6T>G) c.194T>G (p.Phe65Cys) | |
| 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) |