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.23422267C>A | CA389045348 | MYH7 | c.3158G>T (p.Arg1053Leu) n.3264G>T | |
14 | g.23422267C= | CA2123450725 | MYH7 | c.3158G= (p.Arg1053=) n.3264G= | |
14 | g.23422267C>G | CA389045349 | MYH7 | c.3158G>C (p.Arg1053Pro) n.3264G>C | |
14 | g.23422267C>T | CA013417 | MYH7 | c.3158G>A (p.Arg1053Gln) n.3264G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23422268G>A | CA013411 | MYH7 | c.3157C>T (p.Arg1053Trp) n.3263C>T | ClinVar dbSNP gnomAD v4 |
14 | g.23422268G>C | CA389045350 | MYH7 | c.3157C>G (p.Arg1053Gly) n.3263C>G | |
14 | g.23422268G= | CA2123450738 | MYH7 | c.3157C= (p.Arg1053=) n.3263C= | |
14 | g.23422268G>T | CA485621863 | MYH7 | c.3157C>A (p.Arg1053=) n.3263C>A | |
14 | g.23422269C>A | CA389045351 | MYH7 | c.3156G>T (p.Lys1052Asn) n.3262G>T | |
14 | g.23422269C= | CA2123450766 | MYH7 | c.3156G= (p.Lys1052=) n.3262G= | |
14 | g.23422269C>G | CA389045352 | MYH7 | c.3156G>C (p.Lys1052Asn) n.3262G>C | |
14 | g.23422269C>T | CA013406 | MYH7 | c.3156G>A (p.Lys1052=) n.3262G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23422270T>A | CA389045353 | MYH7 | c.3155A>T (p.Lys1052Met) n.3261A>T | |
14 | g.23422270T>C | CA389045354 | MYH7 | c.3155A>G (p.Lys1052Arg) n.3261A>G | |
14 | g.23422270T>G | CA389045357 | MYH7 | c.3155A>C (p.Lys1052Thr) n.3261A>C | |
14 | g.23422271T>A | CA389045358 | MYH7 | c.3154A>T (p.Lys1052Ter) n.3260A>T | |
14 | g.23422271T>C | CA389045360 | MYH7 | c.3154A>G (p.Lys1052Glu) n.3260A>G | ClinVar dbSNP |
14 | g.23422271T>G | CA389045361 | MYH7 | c.3154A>C (p.Lys1052Gln) n.3260A>C | |
14 | g.23422271T= | CA2123450772 | MYH7 | c.3154A= (p.Lys1052=) n.3260A= | |
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 | 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 |