Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23422254_23422286del | CA2580088204 | MYH7 | c.3145_3177del (p.Glu1049_Leu1059del) n.3251_3283del | ClinVar |
14 | g.23422272C>A | CA485621876 | MYH7 | c.3153G>T (p.Ala1051=) n.3259G>T | gnomAD v3 gnomAD v4 |
14 | g.23422272C= | CA2123450778 | MYH7 | c.3153G= (p.Ala1051=) n.3259G= | |
14 | g.23422272C>G | CA485621877 | MYH7 | c.3153G>C (p.Ala1051=) n.3259G>C | dbSNP |
14 | g.23422272C>T | CA013398 | MYH7 | c.3153G>A (p.Ala1051=) n.3259G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23422273G>A | CA013389 | MYH7 | c.3152C>T (p.Ala1051Val) n.3258C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23422273G>C | CA389045363 | MYH7 | c.3152C>G (p.Ala1051Gly) n.3258C>G | dbSNP |
14 | g.23422273G= | CA2123450788 | MYH7 | c.3152C= (p.Ala1051=) n.3258C= | |
14 | g.23422273G>T | CA389045365 | MYH7 | c.3152C>A (p.Ala1051Glu) n.3258C>A | ClinVar dbSNP |
14 | g.23422274C>A | CA389045367 | MYH7 | c.3151G>T (p.Ala1051Ser) n.3257G>T | |
14 | g.23422274C= | CA2123450795 | MYH7 | c.3151G= (p.Ala1051=) n.3257G= | |
14 | g.23422274C>G | CA389045368 | MYH7 | c.3151G>C (p.Ala1051Pro) n.3257G>C | |
14 | g.23422274C>T | CA389045369 | MYH7 | c.3151G>A (p.Ala1051Thr) n.3257G>A | ClinVar dbSNP gnomAD v4 |
14 | g.23422275T>A | CA485621890 | MYH7 | c.3150A>T (p.Arg1050=) n.3256A>T | |
14 | g.23422275T>C | CA485621891 | MYH7 | c.3150A>G (p.Arg1050=) n.3256A>G | ClinVar |
14 | g.23422275T>G | CA485621893 | MYH7 | c.3150A>C (p.Arg1050=) n.3256A>C | |
14 | g.23422276C>A | CA389045374 | MYH7 | c.3149G>T (p.Arg1050Leu) n.3255G>T | |
14 | g.23422276C= | CA2123450804 | MYH7 | c.3149G= (p.Arg1050=) n.3255G= | |
14 | g.23422276C>G | CA035905 | MYH7 | c.3149G>C (p.Arg1050Pro) n.3255G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23422276C>T | CA389045372 | MYH7 | c.3149G>A (p.Arg1050Gln) n.3255G>A | ClinVar dbSNP gnomAD v4 |
14 | g.23422277G>A | CA013380 | MYH7 | c.3148C>T (p.Arg1050Ter) n.3254C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23422277G>C | CA389045375 | MYH7 | c.3148C>G (p.Arg1050Gly) n.3254C>G | |
14 | g.23422277G= | CA2123450812 | MYH7 | c.3148C= (p.Arg1050=) n.3254C= | |
14 | g.23422277G>T | CA035886 | MYH7 | c.3148C>A (p.Arg1050=) n.3254C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23422278C>A | CA389045377 | MYH7 | c.3147G>T (p.Glu1049Asp) n.3253G>T | |
14 | g.23422278C= | CA2123450820 | MYH7 | c.3147G= (p.Glu1049=) n.3253G= | |
14 | g.23422278C>G | CA389045378 | MYH7 | c.3147G>C (p.Glu1049Asp) n.3253G>C | |
14 | g.23422278C>T | CA485621901 | MYH7 | c.3147G>A (p.Glu1049=) n.3253G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23422279T>A | CA389045380 | MYH7 | c.3146A>T (p.Glu1049Val) n.3252A>T | |
14 | g.23422279T>C | CA389045381 | MYH7 | c.3146A>G (p.Glu1049Gly) n.3252A>G | |
14 | g.23422279T>G | CA389045382 | MYH7 | c.3146A>C (p.Glu1049Ala) n.3252A>C | |
14 | g.23422280C>A | CA389045384 | MYH7 | c.3145G>T (p.Glu1049Ter) n.3251G>T | |
14 | g.23422280C= | CA2123450827 | MYH7 | c.3145G= (p.Glu1049=) n.3251G= | |
14 | g.23422280C>G | CA389045388 | MYH7 | c.3145G>C (p.Glu1049Gln) n.3251G>C | |
14 | g.23422280C>T | CA389045390 | MYH7 | c.3145G>A (p.Glu1049Lys) n.3251G>A | dbSNP gnomAD v4 |
14 | g.23422281C>A | CA485621909 | MYH7 | c.3144G>T (p.Leu1048=) n.3250G>T | |
14 | g.23422281C= | CA2123450832 | MYH7 | c.3144G= (p.Leu1048=) n.3250G= | |
14 | g.23422281C>G | CA485621910 | MYH7 | c.3144G>C (p.Leu1048=) n.3250G>C | |
14 | g.23422281C>T | CA035861 | MYH7 | c.3144G>A (p.Leu1048=) n.3250G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23422282A>C | CA389045394 | MYH7 | c.3143T>G (p.Leu1048Arg) n.3249T>G | |
14 | g.23422282A>G | CA389045393 | MYH7 | c.3143T>C (p.Leu1048Pro) n.3249T>C | |
14 | g.23422282A>T | CA389045392 | MYH7 | c.3143T>A (p.Leu1048Gln) n.3249T>A | |
14 | g.23422283G>A | CA485621918 | MYH7 | c.3142C>T (p.Leu1048=) n.3248C>T | |
14 | g.23422283G>C | CA389045396 | MYH7 | c.3142C>G (p.Leu1048Val) n.3248C>G | |
14 | g.23422283G>T | CA389045398 | MYH7 | c.3142C>A (p.Leu1048Met) n.3248C>A | COSMIC |
14 | g.23422284G>A | CA485621923 | MYH7 | c.3141C>T (p.Asp1047=) n.3247C>T | ClinVar dbSNP |
14 | g.23422284G>C | CA389045399 | MYH7 | c.3141C>G (p.Asp1047Glu) n.3247C>G | |
14 | g.23422284G= | CA2123450843 | MYH7 | c.3141C= (p.Asp1047=) n.3247C= | |
14 | g.23422284G>T | CA389045400 | MYH7 | c.3141C>A (p.Asp1047Glu) n.3247C>A | |
14 | g.23422285T>A | CA389045402 | MYH7 | c.3140A>T (p.Asp1047Val) n.3246A>T |