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 |
|---|---|---|---|---|---|
| 20 | g.31820151_31820171delinsTGAAAGACCCCTGGCTGCAGG | CA2360015384 | MYLK2 | c.78_98delinsTGAAAGACCCCTGGCTGCAGG (p.Gly26=) n.243_263delinsTGAAAGACCCCTGGCTGCAGG | |
| 20 | g.31820161_31820180del | CA635267883 | MYLK2 | c.88_107del (p.Leu30TrpfsTer?) n.253_272del | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.31820157_31820158delinsAC | CA2360015388 | MYLK2 | c.84_85delinsAC (p.Arg28=) n.249_250delinsAC | |
| 20 | g.31820158C>A | CA9802837 | MYLK2 | c.85C>A (p.Pro29Thr) n.250C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.31820158C= | CA2360015389 | MYLK2 | c.85C= (p.Pro29=) n.250C= | |
| 20 | g.31820158C>G | CA408524891 | MYLK2 | c.85C>G (p.Pro29Ala) n.250C>G | |
| 20 | g.31820158C>T | CA408524892 | MYLK2 | c.85C>T (p.Pro29Ser) n.250C>T | |
| 20 | g.31820161del | CA635267884 | MYLK2 | c.88del (p.Leu30TrpfsTer21) n.253del | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.31820159C>A | CA408524893 | MYLK2 | c.86C>A (p.Pro29His) n.251C>A | |
| 20 | g.31820159C= | CA2360015390 | MYLK2 | c.86C= (p.Pro29=) n.251C= | |
| 20 | g.31820159C>G | CA408524894 | MYLK2 | c.86C>G (p.Pro29Arg) n.251C>G | |
| 20 | g.31820159C>T | CA408524895 | MYLK2 | c.86C>T (p.Pro29Leu) n.251C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.31820160C>A | CA510173958 | MYLK2 | c.87C>A (p.Pro29=) n.252C>A | |
| 20 | g.31820160C>G | CA510173959 | MYLK2 | c.87C>G (p.Pro29=) n.252C>G | |
| 20 | g.31820160C>T | CA510173960 | MYLK2 | c.87C>T (p.Pro29=) n.252C>T | gnomAD v4 |
| 20 | g.31820161C>A | CA408524896 | MYLK2 | c.88C>A (p.Leu30Met) n.253C>A | |
| 20 | g.31820161C>G | CA408524897 | MYLK2 | c.88C>G (p.Leu30Val) n.253C>G | |
| 20 | g.31820161C>T | CA510173961 | MYLK2 | c.88C>T (p.Leu30=) n.253C>T | gnomAD v4 COSMIC |
| 20 | g.31820161_31820162delinsCT | CA2360015391 | MYLK2 | c.88_89delinsCT (p.Leu30=) n.253_254delinsCT | |
| 20 | g.31820162del | CA2360015392 | MYLK2 | c.89del (p.Leu30ArgfsTer21) n.254del | dbSNP gnomAD v4 |
| 20 | g.31820162T>A | CA408524898 | MYLK2 | c.89T>A (p.Leu30Gln) n.254T>A | |
| 20 | g.31820162T>C | CA408524899 | MYLK2 | c.89T>C (p.Leu30Pro) n.254T>C | gnomAD v4 |
| 20 | g.31820162T>G | CA408524900 | MYLK2 | c.89T>G (p.Leu30Arg) n.254T>G | |
| 20 | g.31820163G>A | CA510173963 | MYLK2 | c.90G>A (p.Leu30=) n.255G>A | dbSNP gnomAD v4 |
| 20 | g.31820163G>C | CA510173964 | MYLK2 | c.90G>C (p.Leu30=) n.255G>C | gnomAD v4 |
| 20 | g.31820163G= | CA2360015393 | MYLK2 | c.90G= (p.Leu30=) n.255G= | |
| 20 | g.31820163G>T | CA510173965 | MYLK2 | c.90G>T (p.Leu30=) n.255G>T | |
| 20 | g.31820164G>A | CA408524902 | MYLK2 | c.91G>A (p.Ala31Thr) n.256G>A | |
| 20 | g.31820164G>C | CA408524903 | MYLK2 | c.91G>C (p.Ala31Pro) n.256G>C | |
| 20 | g.31820164G>T | CA408524901 | MYLK2 | c.91G>T (p.Ala31Ser) n.256G>T | |
| 20 | g.31820165C>A | CA408524904 | MYLK2 | c.92C>A (p.Ala31Asp) n.257C>A | dbSNP |
| 20 | g.31820165C= | CA2360015394 | MYLK2 | c.92C= (p.Ala31=) n.257C= | |
| 20 | g.31820165C>G | CA408524905 | MYLK2 | c.92C>G (p.Ala31Gly) n.257C>G | gnomAD v4 |
| 20 | g.31820165C>T | CA408524906 | MYLK2 | c.92C>T (p.Ala31Val) n.257C>T | |
| 20 | g.31820166T>A | CA510173969 | MYLK2 | c.93T>A (p.Ala31=) n.258T>A | |
| 20 | g.31820166T>C | CA313849449 | MYLK2 | c.93T>C (p.Ala31=) n.258T>C | dbSNP |
| 20 | g.31820166T>G | CA510173971 | MYLK2 | c.93T>G (p.Ala31=) n.258T>G | |
| 20 | g.31820166T= | CA2360015395 | MYLK2 | c.93T= (p.Ala31=) n.258T= | |
| 20 | g.31820167G>A | CA408524907 | MYLK2 | c.94G>A (p.Ala32Thr) n.259G>A | |
| 20 | g.31820167G>C | CA408524908 | MYLK2 | c.94G>C (p.Ala32Pro) n.259G>C | |
| 20 | g.31820167G= | CA2360015396 | MYLK2 | c.94G= (p.Ala32=) n.259G= | |
| 20 | g.31820167G>T | CA9802838 | MYLK2 | c.94G>T (p.Ala32Ser) n.259G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820168C>A | CA408524909 | MYLK2 | c.95C>A (p.Ala32Glu) n.260C>A | |
| 20 | g.31820168C= | CA2360015397 | MYLK2 | c.95C= (p.Ala32=) n.260C= | |
| 20 | g.31820168C>G | CA408524910 | MYLK2 | c.95C>G (p.Ala32Gly) n.260C>G | |
| 20 | g.31820168C>T | CA408524911 | MYLK2 | c.95C>T (p.Ala32Val) n.260C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.31820169A= | CA2360015398 | MYLK2 | c.96A= (p.Ala32=) n.261A= | |
| 20 | g.31820169A>C | CA9802839 | MYLK2 | c.96A>C (p.Ala32=) n.261A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820169A>G | CA510173976 | MYLK2 | c.96A>G (p.Ala32=) n.261A>G | gnomAD v4 |
| 20 | g.31820169A>T | CA510173979 | MYLK2 | c.96A>T (p.Ala32=) n.261A>T | |
| 20 | g.31820169_31820170delinsAG | CA2360015399 | MYLK2 | c.96_97delinsAG (p.Ala32=) n.261_262delinsAG | |
| 20 | g.31820169_31820170delinsCC | CA891843762 | MYLK2 | c.96_97delinsCC (p.Gly33Arg) n.261_262delinsCC | ClinVar dbSNP |
| 20 | g.31820170G>A | CA408524913 | MYLK2 | c.97G>A (p.Gly33Arg) n.262G>A | dbSNP gnomAD v4 |
| 20 | g.31820170G>C | CA9802840 | MYLK2 | c.97G>C (p.Gly33Arg) n.262G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820170G= | CA2360015400 | MYLK2 | c.97G= (p.Gly33=) n.262G= | |
| 20 | g.31820170G>T | CA408524912 | MYLK2 | c.97G>T (p.Gly33Trp) n.262G>T | ClinVar COSMIC |
| 20 | g.31820171G>A | CA408524914 | MYLK2 | c.98G>A (p.Gly33Glu) n.263G>A | |
| 20 | g.31820171G>C | CA408524915 | MYLK2 | c.98G>C (p.Gly33Ala) n.263G>C | |
| 20 | g.31820171G>T | CA408524916 | MYLK2 | c.98G>T (p.Gly33Val) n.263G>T | |
| 20 | g.31820172G>A | CA9802841 | MYLK2 | c.99G>A (p.Gly33=) n.264G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.31820172G>C | CA510173986 | MYLK2 | c.99G>C (p.Gly33=) n.264G>C | |
| 20 | g.31820172G= | CA2360015401 | MYLK2 | c.99G= (p.Gly33=) n.264G= | |
| 20 | g.31820172G>T | CA510173985 | MYLK2 | c.99G>T (p.Gly33=) n.264G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.31820173A>C | CA408524919 | MYLK2 | c.100A>C (p.Lys34Gln) n.265A>C | |
| 20 | g.31820173A>G | CA408524918 | MYLK2 | c.100A>G (p.Lys34Glu) n.265A>G | |
| 20 | g.31820173A>T | CA408524917 | MYLK2 | c.100A>T (p.Lys34Ter) n.265A>T | |
| 20 | g.31820174A>C | CA408524920 | MYLK2 | c.101A>C (p.Lys34Thr) n.266A>C | |
| 20 | g.31820174A>G | CA408524921 | MYLK2 | c.101A>G (p.Lys34Arg) n.266A>G | |
| 20 | g.31820174A>T | CA408524922 | MYLK2 | c.101A>T (p.Lys34Ile) n.266A>T | |
| 20 | g.31820175A= | CA2360015402 | MYLK2 | c.102A= (p.Lys34=) n.267A= | |
| 20 | g.31820175A>C | CA408524923 | MYLK2 | c.102A>C (p.Lys34Asn) n.267A>C | |
| 20 | g.31820175A>G | CA138504 | MYLK2 | c.102A>G (p.Lys34=) n.267A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820175A>T | CA408524924 | MYLK2 | c.102A>T (p.Lys34Asn) n.267A>T | |
| 20 | g.31820176G>A | CA408524927 | MYLK2 | c.103G>A (p.Asp35Asn) n.268G>A | |
| 20 | g.31820176G>C | CA408524926 | MYLK2 | c.103G>C (p.Asp35His) n.268G>C | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.31820176G= | CA2360015403 | MYLK2 | c.103G= (p.Asp35=) n.268G= | |
| 20 | g.31820176G>T | CA408524925 | MYLK2 | c.103G>T (p.Asp35Tyr) n.268G>T | COSMIC |
| 20 | g.31820177A>C | CA408524928 | MYLK2 | c.104A>C (p.Asp35Ala) n.269A>C | |
| 20 | g.31820177A>G | CA408524930 | MYLK2 | c.104A>G (p.Asp35Gly) n.269A>G | |
| 20 | g.31820177A>T | CA408524929 | MYLK2 | c.104A>T (p.Asp35Val) n.269A>T | |
| 20 | g.31820178C>A | CA313849464 | MYLK2 | c.105C>A (p.Asp35Glu) n.270C>A | ClinVar dbSNP gnomAD v4 |
| 20 | g.31820178C= | CA2360015404 | MYLK2 | c.105C= (p.Asp35=) n.270C= | |
| 20 | g.31820178C>G | CA408524931 | MYLK2 | c.105C>G (p.Asp35Glu) n.270C>G | |
| 20 | g.31820178C>T | CA177180 | MYLK2 | c.105C>T (p.Asp35=) n.270C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820179C>A | CA408524932 | MYLK2 | c.106C>A (p.Pro36Thr) n.271C>A | |
| 20 | g.31820179C= | CA2360015405 | MYLK2 | c.106C= (p.Pro36=) n.271C= | |
| 20 | g.31820179C>G | CA408524933 | MYLK2 | c.106C>G (p.Pro36Ala) n.271C>G | |
| 20 | g.31820179C>T | CA9802842 | MYLK2 | c.106C>T (p.Pro36Ser) n.271C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.31820180C>A | CA408524934 | MYLK2 | c.107C>A (p.Pro36His) n.272C>A | |
| 20 | g.31820180C= | CA2360015406 | MYLK2 | c.107C= (p.Pro36=) n.272C= | |
| 20 | g.31820180C>G | CA408524935 | MYLK2 | c.107C>G (p.Pro36Arg) n.272C>G | COSMIC |
| 20 | g.31820180C>T | CA408524936 | MYLK2 | c.107C>T (p.Pro36Leu) n.272C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.31820181T>A | CA510174001 | MYLK2 | c.108T>A (p.Pro36=) n.273T>A | |
| 20 | g.31820181T>C | CA510174002 | MYLK2 | c.108T>C (p.Pro36=) n.273T>C | |
| 20 | g.31820181T>G | CA510174003 | MYLK2 | c.108T>G (p.Pro36=) n.273T>G | |
| 20 | g.31820182G>A | CA408524937 | MYLK2 | c.109G>A (p.Gly37Ser) n.274G>A | gnomAD v4 |
| 20 | g.31820182G>C | CA408524938 | MYLK2 | c.109G>C (p.Gly37Arg) n.274G>C | |
| 20 | g.31820182G>T | CA408524939 | MYLK2 | c.109G>T (p.Gly37Cys) n.274G>T | |
| 20 | g.31820183G>A | CA9802843 | MYLK2 | c.110G>A (p.Gly37Asp) n.275G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820183G>C | CA408524940 | MYLK2 | c.110G>C (p.Gly37Ala) n.275G>C | |
| 20 | g.31820183G= | CA2360015407 | MYLK2 | c.110G= (p.Gly37=) n.275G= | |
| 20 | g.31820183G>T | CA408524941 | MYLK2 | c.110G>T (p.Gly37Val) n.275G>T | |
| 20 | g.31820183_31820184delinsGC | CA2360015408 | MYLK2 | c.110_111delinsGC (p.Gly37=) n.275_276delinsGC | |
| 20 | g.31820184C>A | CA510174006 | MYLK2 | c.111C>A (p.Gly37=) n.276C>A | ClinVar dbSNP gnomAD v4 |
| 20 | g.31820184C= | CA2360015409 | MYLK2 | c.111C= (p.Gly37=) n.276C= | |
| 20 | g.31820184C>G | CA510174007 | MYLK2 | c.111C>G (p.Gly37=) n.276C>G | dbSNP |
| 20 | g.31820184C>T | CA510174008 | MYLK2 | c.111C>T (p.Gly37=) n.276C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.31820189dup | CA2652342980 | MYLK2 | c.116dup (p.Asp40ArgfsTer?) n.281dup | gnomAD v4 |
| 20 | g.31820189del | CA635267885 | MYLK2 | c.116del (p.Pro39GlnfsTer12) n.281del | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.31820185C>A | CA408524942 | MYLK2 | c.112C>A (p.Pro38Thr) n.277C>A | |
| 20 | g.31820185C= | CA2360015410 | MYLK2 | c.112C= (p.Pro38=) n.277C= | |
| 20 | g.31820185C>G | CA408524943 | MYLK2 | c.112C>G (p.Pro38Ala) n.277C>G | gnomAD v4 |
| 20 | g.31820185C>T | CA408524944 | MYLK2 | c.112C>T (p.Pro38Ser) n.277C>T | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.31820186C>A | CA9802844 | MYLK2 | c.113C>A (p.Pro38His) n.278C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820186C= | CA2360015411 | MYLK2 | c.113C= (p.Pro38=) n.278C= | |
| 20 | g.31820186C>G | CA408524945 | MYLK2 | c.113C>G (p.Pro38Arg) n.278C>G | |
| 20 | g.31820186C>T | CA408524946 | MYLK2 | c.113C>T (p.Pro38Leu) n.278C>T | gnomAD v4 |
| 20 | g.31820187C>A | CA510174013 | MYLK2 | c.114C>A (p.Pro38=) n.279C>A | |
| 20 | g.31820187C= | CA2360015412 | MYLK2 | c.114C= (p.Pro38=) n.279C= | |
| 20 | g.31820187C>G | CA510174015 | MYLK2 | c.114C>G (p.Pro38=) n.279C>G | |
| 20 | g.31820187C>T | CA9802845 | MYLK2 | c.114C>T (p.Pro38=) n.279C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.31820188C>A | CA408524947 | MYLK2 | c.115C>A (p.Pro39Thr) n.280C>A | |
| 20 | g.31820188C>G | CA408524948 | MYLK2 | c.115C>G (p.Pro39Ala) n.280C>G | |
| 20 | g.31820188C>T | CA408524949 | MYLK2 | c.115C>T (p.Pro39Ser) n.280C>T | |
| 20 | g.31820189C>A | CA408524951 | MYLK2 | c.116C>A (p.Pro39Gln) n.281C>A | gnomAD v4 |
| 20 | g.31820189C= | CA2360015413 | MYLK2 | c.116C= (p.Pro39=) n.281C= | |
| 20 | g.31820189C>G | CA408524950 | MYLK2 | c.116C>G (p.Pro39Arg) n.281C>G | gnomAD v4 |
| 20 | g.31820189C>T | CA237400 | MYLK2 | c.116C>T (p.Pro39Leu) n.281C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.31820190A>C | CA510174020 | MYLK2 | c.117A>C (p.Pro39=) n.282A>C | |
| 20 | g.31820190A>G | CA510174022 | MYLK2 | c.117A>G (p.Pro39=) n.282A>G | |
| 20 | g.31820190A>T | CA510174023 | MYLK2 | c.117A>T (p.Pro39=) n.282A>T | |
| 20 | g.31820191G>A | CA408524952 | MYLK2 | c.118G>A (p.Asp40Asn) n.283G>A | dbSNP |
| 20 | g.31820191G>C | CA408524953 | MYLK2 | c.118G>C (p.Asp40His) n.283G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.31820191G= | CA2360015414 | MYLK2 | c.118G= (p.Asp40=) n.283G= | |
| 20 | g.31820191G>T | CA408524954 | MYLK2 | c.118G>T (p.Asp40Tyr) n.283G>T | |
| 20 | g.31820192A>C | CA408524955 | MYLK2 | c.119A>C (p.Asp40Ala) n.284A>C | |
| 20 | g.31820192A>G | CA408524956 | MYLK2 | c.119A>G (p.Asp40Gly) n.284A>G | |
| 20 | g.31820192A>T | CA408524957 | MYLK2 | c.119A>T (p.Asp40Val) n.284A>T | |
| 20 | g.31820193C>A | CA408524959 | MYLK2 | c.120C>A (p.Asp40Glu) n.285C>A | dbSNP gnomAD v4 |
| 20 | g.31820193C= | CA2360015415 | MYLK2 | c.120C= (p.Asp40=) n.285C= | |
| 20 | g.31820193C>G | CA408524958 | MYLK2 | c.120C>G (p.Asp40Glu) n.285C>G | |
| 20 | g.31820193C>T | CA510174028 | MYLK2 | c.120C>T (p.Asp40=) n.285C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.31820194C>A | CA408524960 | MYLK2 | c.121C>A (p.Pro41Thr) n.286C>A | |
| 20 | g.31820194C= | CA2360015416 | MYLK2 | c.121C= (p.Pro41=) n.286C= | |
| 20 | g.31820194C>G | CA408524961 | MYLK2 | c.121C>G (p.Pro41Ala) n.286C>G | |
| 20 | g.31820194C>T | CA408524962 | MYLK2 | c.121C>T (p.Pro41Ser) n.286C>T | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.31820195C>A | CA408524963 | MYLK2 | c.122C>A (p.Pro41Gln) n.287C>A | |
| 20 | g.31820195C>G | CA408524964 | MYLK2 | c.122C>G (p.Pro41Arg) n.287C>G | |
| 20 | g.31820195C>T | CA408524965 | MYLK2 | c.122C>T (p.Pro41Leu) n.287C>T | |
| 20 | g.31820196A>C | CA510174030 | MYLK2 | c.123A>C (p.Pro41=) n.288A>C | |
| 20 | g.31820196A>G | CA510174031 | MYLK2 | c.123A>G (p.Pro41=) n.288A>G | |
| 20 | g.31820196A>T | CA510174032 | MYLK2 | c.123A>T (p.Pro41=) n.288A>T | |
| 20 | g.31820197A= | CA2360015417 | MYLK2 | c.124A= (p.Lys42=) n.289A= | |
| 20 | g.31820197A>C | CA408524966 | MYLK2 | c.124A>C (p.Lys42Gln) n.289A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820197A>G | CA408524968 | MYLK2 | c.124A>G (p.Lys42Glu) n.289A>G | |
| 20 | g.31820197A>T | CA408524967 | MYLK2 | c.124A>T (p.Lys42Ter) n.289A>T | |
| 20 | g.31820198A= | CA2360015418 | MYLK2 | c.125A= (p.Lys42=) n.290A= | |
| 20 | g.31820198A>C | CA408524969 | MYLK2 | c.125A>C (p.Lys42Thr) n.290A>C | |
| 20 | g.31820198A>G | CA9802846 | MYLK2 | c.125A>G (p.Lys42Arg) n.290A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820198A>T | CA408524970 | MYLK2 | c.125A>T (p.Lys42Met) n.290A>T | |
| 20 | g.31820199G>A | CA510174034 | MYLK2 | c.126G>A (p.Lys42=) n.291G>A | ClinVar dbSNP |
| 20 | g.31820199G>C | CA408524971 | MYLK2 | c.126G>C (p.Lys42Asn) n.291G>C | |
| 20 | g.31820199G>T | CA408524972 | MYLK2 | c.126G>T (p.Lys42Asn) n.291G>T | gnomAD v4 |
| 20 | g.31820200A= | CA2360015419 | MYLK2 | c.127A= (p.Lys43=) n.292A= | |
| 20 | g.31820200A>C | CA408524973 | MYLK2 | c.127A>C (p.Lys43Gln) n.292A>C | |
| 20 | g.31820200A>G | CA408524974 | MYLK2 | c.127A>G (p.Lys43Glu) n.292A>G | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.31820200A>T | CA408524975 | MYLK2 | c.127A>T (p.Lys43Ter) n.292A>T | |
| 20 | g.31820201A>C | CA408524976 | MYLK2 | c.128A>C (p.Lys43Thr) n.293A>C | |
| 20 | g.31820201A>G | CA408524977 | MYLK2 | c.128A>G (p.Lys43Arg) n.293A>G | |
| 20 | g.31820201A>T | CA408524978 | MYLK2 | c.128A>T (p.Lys43Ile) n.293A>T | |
| 20 | g.31820202A>C | CA408524980 | MYLK2 | c.129A>C (p.Lys43Asn) n.294A>C | |
| 20 | g.31820202A>G | CA510174036 | MYLK2 | c.129A>G (p.Lys43=) n.294A>G | |
| 20 | g.31820202A>T | CA408524979 | MYLK2 | c.129A>T (p.Lys43Asn) n.294A>T | |
| 20 | g.31820202_31820203insCCAAACACACCCAACACA | CA2816132801 | MYLK2 | c.129_130insCCAAACACACCCAACACA (p.Lys43_Ala44insProAsnThrProAsnThr) n.294_295insCCAAACACACCCAACACA | |
| 20 | g.31820203G>A | CA408524981 | MYLK2 | c.130G>A (p.Ala44Thr) n.295G>A | gnomAD v4 |
| 20 | g.31820203G>C | CA408524983 | MYLK2 | c.130G>C (p.Ala44Pro) n.295G>C | |
| 20 | g.31820203G>T | CA408524982 | MYLK2 | c.130G>T (p.Ala44Ser) n.295G>T | |
| 20 | g.31820204C>A | CA408524984 | MYLK2 | c.131C>A (p.Ala44Asp) n.296C>A | |
| 20 | g.31820204C= | CA2360015420 | MYLK2 | c.131C= (p.Ala44=) n.296C= | |
| 20 | g.31820204C>G | CA408524986 | MYLK2 | c.131C>G (p.Ala44Gly) n.296C>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.31820204C>T | CA408524985 | MYLK2 | c.131C>T (p.Ala44Val) n.296C>T | gnomAD v4 |
| 20 | g.31820205T>A | CA510174037 | MYLK2 | c.132T>A (p.Ala44=) n.297T>A | |
| 20 | g.31820205T>C | CA510174038 | MYLK2 | c.132T>C (p.Ala44=) n.297T>C | |
| 20 | g.31820205T>G | CA510174039 | MYLK2 | c.132T>G (p.Ala44=) n.297T>G | |
| 20 | g.31820206C>A | CA408524987 | MYLK2 | c.133C>A (p.Pro45Thr) n.298C>A | |
| 20 | g.31820206C>G | CA408524988 | MYLK2 | c.133C>G (p.Pro45Ala) n.298C>G | |
| 20 | g.31820206C>T | CA408524989 | MYLK2 | c.133C>T (p.Pro45Ser) n.298C>T | |
| 20 | g.31820207C>A | CA408524990 | MYLK2 | c.134C>A (p.Pro45Gln) n.299C>A | |
| 20 | g.31820207C= | CA2360015421 | MYLK2 | c.134C= (p.Pro45=) n.299C= | |
| 20 | g.31820207C>G | CA408524991 | MYLK2 | c.134C>G (p.Pro45Arg) n.299C>G | |
| 20 | g.31820207C>T | CA237403 | MYLK2 | c.134C>T (p.Pro45Leu) n.299C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820208G>A | CA9802847 | MYLK2 | c.135G>A (p.Pro45=) n.300G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820208G>C | CA510174041 | MYLK2 | c.135G>C (p.Pro45=) n.300G>C | |
| 20 | g.31820208G= | CA2360015422 | MYLK2 | c.135G= (p.Pro45=) n.300G= | |
| 20 | g.31820208G>T | CA510174042 | MYLK2 | c.135G>T (p.Pro45=) n.300G>T | |
| 20 | g.31820209del | CA510174043 | MYLK2 | c.136del (p.Asp46IlefsTer5) n.301del | |
| 20 | g.31820209G>A | CA408524992 | MYLK2 | c.136G>A (p.Asp46Asn) n.301G>A | |
| 20 | g.31820209G>C | CA408524993 | MYLK2 | c.136G>C (p.Asp46His) n.301G>C | |
| 20 | g.31820209G>T | CA408524994 | MYLK2 | c.136G>T (p.Asp46Tyr) n.301G>T | gnomAD v4 |
| 20 | g.31820210A>C | CA408524997 | MYLK2 | c.137A>C (p.Asp46Ala) n.302A>C | |
| 20 | g.31820210A>G | CA408524996 | MYLK2 | c.137A>G (p.Asp46Gly) n.302A>G | |
| 20 | g.31820210A>T | CA408524995 | MYLK2 | c.137A>T (p.Asp46Val) n.302A>T | |
| 20 | g.31820211T>A | CA408524998 | MYLK2 | c.138T>A (p.Asp46Glu) n.303T>A | |
| 20 | g.31820211T>C | CA510174046 | MYLK2 | c.138T>C (p.Asp46=) n.303T>C | |
| 20 | g.31820211T>G | CA408524999 | MYLK2 | c.138T>G (p.Asp46Glu) n.303T>G | |
| 20 | g.31820212C>A | CA408525000 | MYLK2 | c.139C>A (p.Pro47Thr) n.304C>A | |
| 20 | g.31820212C>G | CA408525001 | MYLK2 | c.139C>G (p.Pro47Ala) n.304C>G | |
| 20 | g.31820212C>T | CA408525002 | MYLK2 | c.139C>T (p.Pro47Ser) n.304C>T | |
| 20 | g.31820213C>A | CA408525003 | MYLK2 | c.140C>A (p.Pro47Gln) n.305C>A | |
| 20 | g.31820213C>G | CA408525004 | MYLK2 | c.140C>G (p.Pro47Arg) n.305C>G | |
| 20 | g.31820213C>T | CA408525005 | MYLK2 | c.140C>T (p.Pro47Leu) n.305C>T | gnomAD v4 COSMIC |
| 20 | g.31820214A= | CA2360015423 | MYLK2 | c.141A= (p.Pro47=) n.306A= | |
| 20 | g.31820214A>C | CA510174049 | MYLK2 | c.141A>C (p.Pro47=) n.306A>C | |
| 20 | g.31820214A>G | CA510174048 | MYLK2 | c.141A>G (p.Pro47=) n.306A>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.31820214A>T | CA510174047 | MYLK2 | c.141A>T (p.Pro47=) n.306A>T | |
| 20 | g.31820215C>A | CA408525006 | MYLK2 | c.142C>A (p.Pro48Thr) n.307C>A | gnomAD v4 |
| 20 | g.31820215C>G | CA408525007 | MYLK2 | c.142C>G (p.Pro48Ala) n.307C>G | |
| 20 | g.31820215C>T | CA408525008 | MYLK2 | c.142C>T (p.Pro48Ser) n.307C>T | dbSNP |
| 20 | g.31820216C>A | CA408525010 | MYLK2 | c.143C>A (p.Pro48His) n.308C>A | |
| 20 | g.31820216C= | CA2360015424 | MYLK2 | c.143C= (p.Pro48=) n.308C= | |
| 20 | g.31820216C>G | CA408525011 | MYLK2 | c.143C>G (p.Pro48Arg) n.308C>G | |
| 20 | g.31820216C>T | CA408525009 | MYLK2 | c.143C>T (p.Pro48Leu) n.308C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.31820217C>A | CA510174053 | MYLK2 | c.144C>A (p.Pro48=) n.309C>A | |
| 20 | g.31820217C= | CA2360015425 | MYLK2 | c.144C= (p.Pro48=) n.309C= | |
| 20 | g.31820217C>G | CA510174052 | MYLK2 | c.144C>G (p.Pro48=) n.309C>G | |
| 20 | g.31820217C>T | CA510174051 | MYLK2 | c.144C>T (p.Pro48=) n.309C>T | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.31820218A>C | CA408525012 | MYLK2 | c.145A>C (p.Thr49Pro) n.310A>C | ClinVar |
| 20 | g.31820218A>G | CA408525013 | MYLK2 | c.145A>G (p.Thr49Ala) n.310A>G | |
| 20 | g.31820218A>T | CA408525014 | MYLK2 | c.145A>T (p.Thr49Ser) n.310A>T | |
| 20 | g.31820219C>A | CA408525015 | MYLK2 | c.146C>A (p.Thr49Asn) n.311C>A | COSMIC |
| 20 | g.31820219C= | CA2360015426 | MYLK2 | c.146C= (p.Thr49=) n.311C= | |
| 20 | g.31820219C>G | CA408525016 | MYLK2 | c.146C>G (p.Thr49Ser) n.311C>G | |
| 20 | g.31820219C>T | CA9802848 | MYLK2 | c.146C>T (p.Thr49Ile) n.311C>T | ClinVar dbSNP ExAC gnomAD v4 |
| 20 | g.31820220C>A | CA510174054 | MYLK2 | c.147C>A (p.Thr49=) n.312C>A | dbSNP gnomAD v4 |
| 20 | g.31820220C= | CA2360015427 | MYLK2 | c.147C= (p.Thr49=) n.312C= | |
| 20 | g.31820220C>G | CA510174055 | MYLK2 | c.147C>G (p.Thr49=) n.312C>G | |
| 20 | g.31820220C>T | CA9802849 | MYLK2 | c.147C>T (p.Thr49=) n.312C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.31820221C>A | CA408525017 | MYLK2 | c.148C>A (p.Leu50Met) n.313C>A | |
| 20 | g.31820221C>G | CA408525018 | MYLK2 | c.148C>G (p.Leu50Val) n.313C>G | |
| 20 | g.31820221C>T | CA510174056 | MYLK2 | c.148C>T (p.Leu50=) n.313C>T | |
| 20 | g.31820222T>A | CA408525019 | MYLK2 | c.149T>A (p.Leu50Gln) n.314T>A | |
| 20 | g.31820222T>C | CA408525020 | MYLK2 | c.149T>C (p.Leu50Pro) n.314T>C | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.31820222T>G | CA9802850 | MYLK2 | c.149T>G (p.Leu50Arg) n.314T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.31820222T= | CA2360015428 | MYLK2 | c.149T= (p.Leu50=) n.314T= | |
| 20 | g.31820223G>A | CA510174057 | MYLK2 | c.150G>A (p.Leu50=) n.315G>A | gnomAD v4 |
| 20 | g.31820223G>C | CA510174058 | MYLK2 | c.150G>C (p.Leu50=) n.315G>C | |
| 20 | g.31820223G>T | CA510174059 | MYLK2 | c.150G>T (p.Leu50=) n.315G>T | |
| 20 | g.31820224A>C | CA408525022 | MYLK2 | c.151A>C (p.Lys51Gln) n.316A>C | |
| 20 | g.31820224A>G | CA408525023 | MYLK2 | c.151A>G (p.Lys51Glu) n.316A>G | gnomAD v4 |
| 20 | g.31820224A>T | CA408525021 | MYLK2 | c.151A>T (p.Lys51Ter) n.316A>T | |
| 20 | g.31820225A>C | CA408525024 | MYLK2 | c.152A>C (p.Lys51Thr) n.317A>C | |
| 20 | g.31820225A>G | CA408525025 | MYLK2 | c.152A>G (p.Lys51Arg) n.317A>G | dbSNP |
| 20 | g.31820225A>T | CA408525026 | MYLK2 | c.152A>T (p.Lys51Met) n.317A>T | |
| 20 | g.31820226G>A | CA510174060 | MYLK2 | c.153G>A (p.Lys51=) n.318G>A | |
| 20 | g.31820226G>C | CA408525027 | MYLK2 | c.153G>C (p.Lys51Asn) n.318G>C | |
| 20 | g.31820226G>T | CA408525028 | MYLK2 | c.153G>T (p.Lys51Asn) n.318G>T | |
| 20 | g.31820227A= | CA2360015429 | MYLK2 | c.154A= (p.Lys52=) n.319A= | |
| 20 | g.31820227A>C | CA408525031 | MYLK2 | c.154A>C (p.Lys52Gln) n.319A>C | |
| 20 | g.31820227A>G | CA408525029 | MYLK2 | c.154A>G (p.Lys52Glu) n.319A>G | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.31820227A>T | CA408525030 | MYLK2 | c.154A>T (p.Lys52Ter) n.319A>T | |
| 20 | g.31820228A>C | CA408525032 | MYLK2 | c.155A>C (p.Lys52Thr) n.320A>C | |
| 20 | g.31820228A>G | CA408525033 | MYLK2 | c.155A>G (p.Lys52Arg) n.320A>G | |
| 20 | g.31820228A>T | CA408525034 | MYLK2 | c.155A>T (p.Lys52Ile) n.320A>T | |
| 20 | g.31820229A>C | CA408525035 | MYLK2 | c.156A>C (p.Lys52Asn) n.321A>C | |
| 20 | g.31820229A>G | CA510174061 | MYLK2 | c.156A>G (p.Lys52=) n.321A>G | ClinVar dbSNP |
| 20 | g.31820229A>T | CA408525036 | MYLK2 | c.156A>T (p.Lys52Asn) n.321A>T | |
| 20 | g.31820230G>A | CA9802851 | MYLK2 | c.157G>A (p.Asp53Asn) n.322G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820230G>C | CA408525038 | MYLK2 | c.157G>C (p.Asp53His) n.322G>C | |
| 20 | g.31820230G= | CA2360015430 | MYLK2 | c.157G= (p.Asp53=) n.322G= | |
| 20 | g.31820230G>T | CA408525037 | MYLK2 | c.157G>T (p.Asp53Tyr) n.322G>T | |
| 20 | g.31820231A>C | CA408525039 | MYLK2 | c.158A>C (p.Asp53Ala) n.323A>C | |
| 20 | g.31820231A>G | CA408525041 | MYLK2 | c.158A>G (p.Asp53Gly) n.323A>G | gnomAD v4 |
| 20 | g.31820231A>T | CA408525040 | MYLK2 | c.158A>T (p.Asp53Val) n.323A>T | gnomAD v4 |
| 20 | g.31820232T>A | CA408525042 | MYLK2 | c.159T>A (p.Asp53Glu) n.324T>A | |
| 20 | g.31820232T>C | CA510174062 | MYLK2 | c.159T>C (p.Asp53=) n.324T>C | |
| 20 | g.31820232T>G | CA408525043 | MYLK2 | c.159T>G (p.Asp53Glu) n.324T>G | |
| 20 | g.31820233G>A | CA408525044 | MYLK2 | c.160G>A (p.Ala54Thr) n.325G>A | |
| 20 | g.31820233G>C | CA408525045 | MYLK2 | c.160G>C (p.Ala54Pro) n.325G>C | |
| 20 | g.31820233G>T | CA408525046 | MYLK2 | c.160G>T (p.Ala54Ser) n.325G>T | |
| 20 | g.31820234C>A | CA9802852 | MYLK2 | c.161C>A (p.Ala54Asp) n.326C>A | ClinVar dbSNP ExAC gnomAD v2 |
| 20 | g.31820234C= | CA2360015431 | MYLK2 | c.161C= (p.Ala54=) n.326C= | |
| 20 | g.31820234C>G | CA408525047 | MYLK2 | c.161C>G (p.Ala54Gly) n.326C>G | |
| 20 | g.31820234C>T | CA408525048 | MYLK2 | c.161C>T (p.Ala54Val) n.326C>T | ClinVar |
| 20 | g.31820235C>A | CA510174063 | MYLK2 | c.162C>A (p.Ala54=) n.327C>A | |
| 20 | g.31820235C= | CA2360015432 | MYLK2 | c.162C= (p.Ala54=) n.327C= | |
| 20 | g.31820235C>G | CA9802853 | MYLK2 | c.162C>G (p.Ala54=) n.327C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820235C>T | CA510174064 | MYLK2 | c.162C>T (p.Ala54=) n.327C>T | ClinVar gnomAD v4 |
| 20 | g.31820235_31820236insT | CA2697547341 | MYLK2 | c.162_163insT (p.Lys55Ter) n.327_328insT | ClinVar |
| 20 | g.31820236A>C | CA408525049 | MYLK2 | c.163A>C (p.Lys55Gln) n.328A>C | |
| 20 | g.31820236A>G | CA408525050 | MYLK2 | c.163A>G (p.Lys55Glu) n.328A>G | |
| 20 | g.31820236A>T | CA408525051 | MYLK2 | c.163A>T (p.Lys55Ter) n.328A>T | |
| 20 | g.31820238del | CA2652342981 | MYLK2 | c.165del (p.Ala56ProfsTer?) n.330del | gnomAD v4 |
| 20 | g.31820237A>C | CA408525054 | MYLK2 | c.164A>C (p.Lys55Thr) n.329A>C | |
| 20 | g.31820237A>G | CA408525052 | MYLK2 | c.164A>G (p.Lys55Arg) n.329A>G | |
| 20 | g.31820237A>T | CA408525053 | MYLK2 | c.164A>T (p.Lys55Ile) n.329A>T | |
| 20 | g.31820238A>C | CA408525055 | MYLK2 | c.165A>C (p.Lys55Asn) n.330A>C | |
| 20 | g.31820238A>G | CA510174065 | MYLK2 | c.165A>G (p.Lys55=) n.330A>G | |
| 20 | g.31820238A>T | CA408525056 | MYLK2 | c.165A>T (p.Lys55Asn) n.330A>T | |
| 20 | g.31820239del | CA2580615008 | MYLK2 | c.166del (p.Ala56ProfsTer?) n.331del | ClinVar |
| 20 | g.31820239G>A | CA408525057 | MYLK2 | c.166G>A (p.Ala56Thr) n.331G>A | gnomAD v4 |
| 20 | g.31820239G>C | CA408525058 | MYLK2 | c.166G>C (p.Ala56Pro) n.331G>C | |
| 20 | g.31820239G>T | CA408525059 | MYLK2 | c.166G>T (p.Ala56Ser) n.331G>T | gnomAD v4 |
| 20 | g.31820240C>A | CA9802855 | MYLK2 | c.167C>A (p.Ala56Asp) n.332C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.31820240C= | CA2360015433 | MYLK2 | c.167C= (p.Ala56=) n.332C= | |
| 20 | g.31820240C>G | CA9802856 | MYLK2 | c.167C>G (p.Ala56Gly) n.332C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820240C>T | CA9802854 | MYLK2 | c.167C>T (p.Ala56Val) n.332C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820241C>A | CA510174069 | MYLK2 | c.168C>A (p.Ala56=) n.333C>A | ClinVar dbSNP gnomAD v4 |
| 20 | g.31820241C= | CA2360015434 | MYLK2 | c.168C= (p.Ala56=) n.333C= | |
| 20 | g.31820241C>G | CA510174067 | MYLK2 | c.168C>G (p.Ala56=) n.333C>G | |
| 20 | g.31820241C>T | CA510174068 | MYLK2 | c.168C>T (p.Ala56=) n.333C>T | COSMIC |
| 20 | g.31820242C>A | CA408525060 | MYLK2 | c.169C>A (p.Pro57Thr) n.334C>A | |
| 20 | g.31820242C= | CA2360015435 | MYLK2 | c.169C= (p.Pro57=) n.334C= | |
| 20 | g.31820242C>G | CA408525061 | MYLK2 | c.169C>G (p.Pro57Ala) n.334C>G | |
| 20 | g.31820242C>T | CA313849507 | MYLK2 | c.169C>T (p.Pro57Ser) n.334C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820243C>A | CA408525064 | MYLK2 | c.170C>A (p.Pro57His) n.335C>A | |
| 20 | g.31820243C>G | CA408525063 | MYLK2 | c.170C>G (p.Pro57Arg) n.335C>G | |
| 20 | g.31820243C>T | CA408525062 | MYLK2 | c.170C>T (p.Pro57Leu) n.335C>T | |
| 20 | g.31820244T>A | CA510174071 | MYLK2 | c.171T>A (p.Pro57=) n.336T>A | |
| 20 | g.31820244T>C | CA510174073 | MYLK2 | c.171T>C (p.Pro57=) n.336T>C | |
| 20 | g.31820244T>G | CA510174075 | MYLK2 | c.171T>G (p.Pro57=) n.336T>G | |
| 20 | g.31820245G>A | CA408525065 | MYLK2 | c.172G>A (p.Ala58Thr) n.337G>A | ClinVar dbSNP |
| 20 | g.31820245G>C | CA408525066 | MYLK2 | c.172G>C (p.Ala58Pro) n.337G>C | gnomAD v4 |
| 20 | g.31820245G>T | CA408525067 | MYLK2 | c.172G>T (p.Ala58Ser) n.337G>T | |
| 20 | g.31820246C>A | CA138522 | MYLK2 | c.173C>A (p.Ala58Asp) n.338C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820246C= | CA2360015436 | MYLK2 | c.173C= (p.Ala58=) n.338C= | |
| 20 | g.31820246C>G | CA408525068 | MYLK2 | c.173C>G (p.Ala58Gly) n.338C>G | |
| 20 | g.31820246C>T | CA408525069 | MYLK2 | c.173C>T (p.Ala58Val) n.338C>T | |
| 20 | g.31820247C>A | CA510174081 | MYLK2 | c.174C>A (p.Ala58=) n.339C>A | |
| 20 | g.31820247C>G | CA510174079 | MYLK2 | c.174C>G (p.Ala58=) n.339C>G | |
| 20 | g.31820247C>T | CA510174080 | MYLK2 | c.174C>T (p.Ala58=) n.339C>T | |
| 20 | g.31820248T>A | CA408525070 | MYLK2 | c.175T>A (p.Ser59Thr) n.340T>A | |
| 20 | g.31820248T>C | CA408525071 | MYLK2 | c.175T>C (p.Ser59Pro) n.340T>C | |
| 20 | g.31820248T>G | CA408525072 | MYLK2 | c.175T>G (p.Ser59Ala) n.340T>G | |
| 20 | g.31820249C>A | CA408525073 | MYLK2 | c.176C>A (p.Ser59Ter) n.341C>A | |
| 20 | g.31820249C>G | CA408525074 | MYLK2 | c.176C>G (p.Ser59Ter) n.341C>G | |
| 20 | g.31820249C>T | CA408525075 | MYLK2 | c.176C>T (p.Ser59Leu) n.341C>T | |
| 20 | g.31820250A>C | CA510174083 | MYLK2 | c.177A>C (p.Ser59=) n.342A>C | |
| 20 | g.31820250A>G | CA510174084 | MYLK2 | c.177A>G (p.Ser59=) n.342A>G | |
| 20 | g.31820250A>T | CA510174086 | MYLK2 | c.177A>T (p.Ser59=) n.342A>T | |
| 20 | g.31820251G>A | CA408525078 | MYLK2 | c.178G>A (p.Glu60Lys) n.343G>A | |
| 20 | g.31820251G>C | CA408525077 | MYLK2 | c.178G>C (p.Glu60Gln) n.343G>C | |
| 20 | g.31820251G>T | CA408525076 | MYLK2 | c.178G>T (p.Glu60Ter) n.343G>T | |
| 20 | g.31820252A= | CA2360015437 | MYLK2 | c.179A= (p.Glu60=) n.344A= | |
| 20 | g.31820252A>C | CA408525079 | MYLK2 | c.179A>C (p.Glu60Ala) n.344A>C | |
| 20 | g.31820252A>G | CA408525080 | MYLK2 | c.179A>G (p.Glu60Gly) n.344A>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.31820252A>T | CA408525081 | MYLK2 | c.179A>T (p.Glu60Val) n.344A>T | |
| 20 | g.31820253G>A | CA510174088 | MYLK2 | c.180G>A (p.Glu60=) n.345G>A | |
| 20 | g.31820253G>C | CA408525082 | MYLK2 | c.180G>C (p.Glu60Asp) n.345G>C | dbSNP |
| 20 | g.31820253G= | CA2360015438 | MYLK2 | c.180G= (p.Glu60=) n.345G= | |
| 20 | g.31820253G>T | CA408525083 | MYLK2 | c.180G>T (p.Glu60Asp) n.345G>T | |
| 20 | g.31820254A>C | CA408525084 | MYLK2 | c.181A>C (p.Lys61Gln) n.346A>C | |
| 20 | g.31820254A>G | CA408525085 | MYLK2 | c.181A>G (p.Lys61Glu) n.346A>G | |
| 20 | g.31820254A>T | CA408525086 | MYLK2 | c.181A>T (p.Lys61Ter) n.346A>T | |
| 20 | g.31820255A>C | CA408525087 | MYLK2 | c.182A>C (p.Lys61Thr) n.347A>C | |
| 20 | g.31820255A>G | CA408525088 | MYLK2 | c.182A>G (p.Lys61Arg) n.347A>G | |
| 20 | g.31820255A>T | CA408525089 | MYLK2 | c.182A>T (p.Lys61Ile) n.347A>T | |
| 20 | g.31820256A>C | CA408525090 | MYLK2 | c.183A>C (p.Lys61Asn) n.348A>C | |
| 20 | g.31820256A>G | CA510174091 | MYLK2 | c.183A>G (p.Lys61=) n.348A>G | gnomAD v4 |
| 20 | g.31820256A>T | CA408525091 | MYLK2 | c.183A>T (p.Lys61Asn) n.348A>T | |
| 20 | g.31820256_31820257del | CA2652342982 | MYLK2 | c.183_184del (p.Asp63TrpfsTer9) n.348_349del | gnomAD v4 |
| 20 | g.31820257G>A | CA9802857 | MYLK2 | c.184G>A (p.Gly62Arg) n.349G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820257G>C | CA408525093 | MYLK2 | c.184G>C (p.Gly62Arg) n.349G>C | |
| 20 | g.31820257G= | CA2360015439 | MYLK2 | c.184G= (p.Gly62=) n.349G= | |
| 20 | g.31820257G>T | CA408525092 | MYLK2 | c.184G>T (p.Gly62Trp) n.349G>T | |
| 20 | g.31820258G>A | CA408525096 | MYLK2 | c.185G>A (p.Gly62Glu) n.350G>A | |
| 20 | g.31820258G>C | CA408525094 | MYLK2 | c.185G>C (p.Gly62Ala) n.350G>C | dbSNP |
| 20 | g.31820258G= | CA2360015440 | MYLK2 | c.185G= (p.Gly62=) n.350G= | |
| 20 | g.31820258G>T | CA408525095 | MYLK2 | c.185G>T (p.Gly62Val) n.350G>T |