Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
20 | g.31820259G>A | CA510174097 | MYLK2 | c.186G>A (p.Gly62=) n.351G>A | |
20 | g.31820259G>C | CA510174098 | MYLK2 | c.186G>C (p.Gly62=) n.351G>C | |
20 | g.31820259G>T | CA510174099 | MYLK2 | c.186G>T (p.Gly62=) n.351G>T | |
20 | g.31820259_31820260delinsAA | CA645601437 | MYLK2 | c.186_187delinsAA (p.Asp63Asn) n.351_352delinsAA | COSMIC |
20 | g.31820260G>A | CA408525097 | MYLK2 | c.187G>A (p.Asp63Asn) n.352G>A | ClinVar dbSNP gnomAD v4 |
20 | g.31820260G>C | CA9802858 | MYLK2 | c.187G>C (p.Asp63His) n.352G>C | dbSNP ExAC gnomAD v2 |
20 | g.31820260G= | CA2360015441 | MYLK2 | c.187G= (p.Asp63=) n.352G= | |
20 | g.31820260G>T | CA9802859 | MYLK2 | c.187G>T (p.Asp63Tyr) n.352G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820261A>C | CA408525098 | MYLK2 | c.188A>C (p.Asp63Ala) n.353A>C | |
20 | g.31820261A>G | CA408525099 | MYLK2 | c.188A>G (p.Asp63Gly) n.353A>G | |
20 | g.31820261A>T | CA408525100 | MYLK2 | c.188A>T (p.Asp63Val) n.353A>T | |
20 | g.31820262T>A | CA408525101 | MYLK2 | c.189T>A (p.Asp63Glu) n.354T>A | |
20 | g.31820262T>C | CA510174103 | MYLK2 | c.189T>C (p.Asp63=) n.354T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.31820262T>G | CA408525102 | MYLK2 | c.189T>G (p.Asp63Glu) n.354T>G | |
20 | g.31820262T= | CA2360015442 | MYLK2 | c.189T= (p.Asp63=) n.354T= | |
20 | g.31820263G>A | CA408525103 | MYLK2 | c.190G>A (p.Gly64Ser) n.355G>A | |
20 | g.31820263G>C | CA408525104 | MYLK2 | c.190G>C (p.Gly64Arg) n.355G>C | |
20 | g.31820263G>T | CA408525105 | MYLK2 | c.190G>T (p.Gly64Cys) n.355G>T | gnomAD v4 |
20 | g.31820264G>A | CA408525107 | MYLK2 | c.191G>A (p.Gly64Asp) n.356G>A | |
20 | g.31820264G>C | CA9802860 | MYLK2 | c.191G>C (p.Gly64Ala) n.356G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.31820264G= | CA2360015443 | MYLK2 | c.191G= (p.Gly64=) n.356G= | |
20 | g.31820264G>T | CA408525106 | MYLK2 | c.191G>T (p.Gly64Val) n.356G>T | |
20 | g.31820265T>A | CA510174106 | MYLK2 | c.192T>A (p.Gly64=) n.357T>A | |
20 | g.31820265T>C | CA510174107 | MYLK2 | c.192T>C (p.Gly64=) n.357T>C | |
20 | g.31820265T>G | CA510174108 | MYLK2 | c.192T>G (p.Gly64=) n.357T>G | |
20 | g.31820266A= | CA2360015444 | MYLK2 | c.193A= (p.Thr65=) n.358A= | |
20 | g.31820266A>C | CA408525108 | MYLK2 | c.193A>C (p.Thr65Pro) n.358A>C | |
20 | g.31820266A>G | CA9802861 | MYLK2 | c.193A>G (p.Thr65Ala) n.358A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.31820266A>T | CA408525109 | MYLK2 | c.193A>T (p.Thr65Ser) n.358A>T | |
20 | g.31820267C>A | CA408525110 | MYLK2 | c.194C>A (p.Thr65Asn) n.359C>A | |
20 | g.31820267C= | CA2360015445 | MYLK2 | c.194C= (p.Thr65=) n.359C= | |
20 | g.31820267C>G | CA313849527 | MYLK2 | c.194C>G (p.Thr65Ser) n.359C>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.31820267C>T | CA237406 | MYLK2 | c.194C>T (p.Thr65Ile) n.359C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.31820268C>A | CA510174118 | MYLK2 | c.195C>A (p.Thr65=) n.360C>A | |
20 | g.31820268C>G | CA510174120 | MYLK2 | c.195C>G (p.Thr65=) n.360C>G | |
20 | g.31820268C>T | CA510174119 | MYLK2 | c.195C>T (p.Thr65=) n.360C>T | gnomAD v4 COSMIC |
20 | g.31820269_31820289del | CA2577362021 | MYLK2 | c.196_216del (p.Leu66_Ser72del) n.361_381del | |
20 | g.31820269C>A | CA408525111 | MYLK2 | c.196C>A (p.Leu66Met) n.361C>A | |
20 | g.31820269C>G | CA408525112 | MYLK2 | c.196C>G (p.Leu66Val) n.361C>G | |
20 | g.31820269C>T | CA510174125 | MYLK2 | c.196C>T (p.Leu66=) n.361C>T | gnomAD v4 |
20 | g.31820270T>A | CA408525113 | MYLK2 | c.197T>A (p.Leu66Gln) n.362T>A |