Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23422299C>A | CA013364 | MYH7 | c.3126G>T (p.Lys1042Asn) n.3232G>T | ClinVar dbSNP gnomAD v4 |
14 | g.23422299C= | CA2123450940 | MYH7 | c.3126G= (p.Lys1042=) n.3232G= | |
14 | g.23422299C>G | CA389045452 | MYH7 | c.3126G>C (p.Lys1042Asn) n.3232G>C | |
14 | g.23422299C>T | CA485621975 | MYH7 | c.3126G>A (p.Lys1042=) n.3232G>A | |
14 | g.23422300T>A | CA389045454 | MYH7 | c.3125A>T (p.Lys1042Met) n.3231A>T | |
14 | g.23422300T>C | CA257817945 | MYH7 | c.3125A>G (p.Lys1042Arg) n.3231A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23422300T>G | CA389045456 | MYH7 | c.3125A>C (p.Lys1042Thr) n.3231A>C | |
14 | g.23422300T= | CA2123450947 | MYH7 | c.3125A= (p.Lys1042=) n.3231A= | |
14 | g.23422301T>A | CA389045457 | MYH7 | c.3124A>T (p.Lys1042Ter) n.3230A>T | |
14 | g.23422301T>C | CA389045458 | MYH7 | c.3124A>G (p.Lys1042Glu) n.3230A>G | |
14 | g.23422301T>G | CA389045460 | MYH7 | c.3124A>C (p.Lys1042Gln) n.3230A>C | |
14 | g.23422302C>A | CA389045462 | MYH7 | c.3123G>T (p.Glu1041Asp) n.3229G>T | |
14 | g.23422302C>G | CA389045464 | MYH7 | c.3123G>C (p.Glu1041Asp) n.3229G>C | gnomAD v4 |
14 | g.23422302C>T | CA485621983 | MYH7 | c.3123G>A (p.Glu1041=) n.3229G>A | |
14 | g.23422303T>A | CA389045465 | MYH7 | c.3122A>T (p.Glu1041Val) n.3228A>T | |
14 | g.23422303T>C | CA389045466 | MYH7 | c.3122A>G (p.Glu1041Gly) n.3228A>G | gnomAD v4 |
14 | g.23422303T>G | CA389045467 | MYH7 | c.3122A>C (p.Glu1041Ala) n.3228A>C | |
14 | g.23422304C>A | CA389045469 | MYH7 | c.3121G>T (p.Glu1041Ter) n.3227G>T | |
14 | g.23422304C>G | CA389045471 | MYH7 | c.3121G>C (p.Glu1041Gln) n.3227G>C | |
14 | g.23422304C>T | CA389045472 | MYH7 | c.3121G>A (p.Glu1041Lys) n.3227G>A | |
14 | g.23422305T>A | CA389045474 | MYH7 | c.3120A>T (p.Gln1040His) n.3226A>T | |
14 | g.23422305T>C | CA485621989 | MYH7 | c.3120A>G (p.Gln1040=) n.3226A>G | dbSNP |
14 | g.23422305T>G | CA389045477 | MYH7 | c.3120A>C (p.Gln1040His) n.3226A>C | |
14 | g.23422305T= | CA2123450957 | MYH7 | c.3120A= (p.Gln1040=) n.3226A= | |
14 | g.23422306T>A | CA389045479 | MYH7 | c.3119A>T (p.Gln1040Leu) n.3225A>T | |
14 | g.23422306T>C | CA389045480 | MYH7 | c.3119A>G (p.Gln1040Arg) n.3225A>G | ClinVar |
14 | g.23422306T>G | CA389045481 | MYH7 | c.3119A>C (p.Gln1040Pro) n.3225A>C | |
14 | g.23422306_23422307delinsTG | CA2123450962 | MYH7 | c.3118_3119delinsCA (p.Gln1040=) n.3224_3225delinsCA | |
14 | g.23422307del | CA2123450966 | MYH7 | c.3118del (p.Gln1040LysfsTer20) n.3224del | dbSNP |
14 | g.23422307G>A | CA389045486 | MYH7 | c.3118C>T (p.Gln1040Ter) n.3224C>T | |
14 | g.23422307G>C | CA389045484 | MYH7 | c.3118C>G (p.Gln1040Glu) n.3224C>G | gnomAD v4 |
14 | g.23422307G>T | CA389045482 | MYH7 | c.3118C>A (p.Gln1040Lys) n.3224C>A | |
14 | g.23422308C>A | CA389045487 | MYH7 | c.3117G>T (p.Glu1039Asp) n.3223G>T | |
14 | g.23422308C= | CA2123450968 | MYH7 | c.3117G= (p.Glu1039=) n.3223G= | |
14 | g.23422308C>G | CA389045489 | MYH7 | c.3117G>C (p.Glu1039Asp) n.3223G>C | |
14 | g.23422308C>T | CA485622000 | MYH7 | c.3117G>A (p.Glu1039=) n.3223G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23422308_23422320delinsCTCCAGGGATCCT | CA2123450970 | MYH7 | c.3105_3117delinsAGGATCCCTGGAG (p.Glu1035=) n.3211_3223delinsAGGATCCCTGGAG | |
14 | g.23422309T>A | CA389045490 | MYH7 | c.3116A>T (p.Glu1039Val) n.3222A>T | |
14 | g.23422309T>C | CA035756 | MYH7 | c.3116A>G (p.Glu1039Gly) n.3222A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23422309T>G | CA389045492 | MYH7 | c.3116A>C (p.Glu1039Ala) n.3222A>C | |
14 | g.23422309T= | CA2123450974 | MYH7 | c.3116A= (p.Glu1039=) n.3222A= | |
14 | g.23422314_23422325del | CA1139663386 | MYH7 | c.3105_3116del (p.Gly1036_Glu1039del) n.3211_3222del | ClinVar dbSNP |
14 | g.23422310C>A | CA389045494 | MYH7 | c.3115G>T (p.Glu1039Ter) n.3221G>T | |
14 | g.23422310C= | CA2123450979 | MYH7 | c.3115G= (p.Glu1039=) n.3221G= | |
14 | g.23422310C>G | CA389045495 | MYH7 | c.3115G>C (p.Glu1039Gln) n.3221G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23422310C>T | CA389045497 | MYH7 | c.3115G>A (p.Glu1039Lys) n.3221G>A | gnomAD v4 |
14 | g.23422311C>A | CA485622007 | MYH7 | c.3114G>T (p.Leu1038=) n.3220G>T | |
14 | g.23422311C= | CA2123450982 | MYH7 | c.3114G= (p.Leu1038=) n.3220G= | |
14 | g.23422311C>G | CA485622010 | MYH7 | c.3114G>C (p.Leu1038=) n.3220G>C | ClinVar dbSNP gnomAD v4 |
14 | g.23422311C>T | CA485622012 | MYH7 | c.3114G>A (p.Leu1038=) n.3220G>A | ClinVar dbSNP gnomAD v4 |