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 |
|---|---|---|---|---|---|
| 14 | g.23422254_23422286del | CA2580088204 | MYH7 | c.3145_3177del (p.Glu1049_Leu1059del) n.3251_3283del | ClinVar |
| 14 | g.23422253C>A | CA013452 | MYH7 | c.3172G>T (p.Asp1058Tyr) n.3278G>T | ClinVar dbSNP |
| 14 | g.23422253C= | CA2123450659 | MYH7 | c.3172G= (p.Asp1058=) n.3278G= | |
| 14 | g.23422253C>G | CA389045313 | MYH7 | c.3172G>C (p.Asp1058His) n.3278G>C | |
| 14 | g.23422253C>T | CA013446 | MYH7 | c.3172G>A (p.Asp1058Asn) n.3278G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422254G>A | CA036041 | MYH7 | c.3171C>T (p.Gly1057=) n.3277C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23422254G>C | CA485621832 | MYH7 | c.3171C>G (p.Gly1057=) n.3277C>G | |
| 14 | g.23422254G= | CA2123450662 | MYH7 | c.3171C= (p.Gly1057=) n.3277C= | |
| 14 | g.23422254G>T | CA485621833 | MYH7 | c.3171C>A (p.Gly1057=) n.3277C>A | gnomAD v4 |
| 14 | g.23422255C>A | CA389045316 | MYH7 | c.3170G>T (p.Gly1057Val) n.3276G>T | |
| 14 | g.23422255C= | CA2123450666 | MYH7 | c.3170G= (p.Gly1057=) n.3276G= | |
| 14 | g.23422255C>G | CA389045318 | MYH7 | c.3170G>C (p.Gly1057Ala) n.3276G>C | |
| 14 | g.23422255C>T | CA389045319 | MYH7 | c.3170G>A (p.Gly1057Asp) n.3276G>A | ClinVar dbSNP |
| 14 | g.23422257del | CA2697553842 | MYH7 | c.3170del (p.Gly1057AlafsTer3) n.3276del | ClinVar |
| 14 | g.23422256C>A | CA389045320 | MYH7 | c.3169G>T (p.Gly1057Cys) n.3275G>T | |
| 14 | g.23422256C= | CA2123450671 | MYH7 | c.3169G= (p.Gly1057=) n.3275G= | |
| 14 | g.23422256C>G | CA389045323 | MYH7 | c.3169G>C (p.Gly1057Arg) n.3275G>C | |
| 14 | g.23422256C>T | CA013436 | MYH7 | c.3169G>A (p.Gly1057Ser) n.3275G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422256_23422257insTGGGTCAG | CA2624234399 | MYH7 | c.3168_3169insCTGACCCA (p.Gly1057LeufsTer6) n.3274_3275insCTGACCCA | gnomAD v4 |
| 14 | g.23422257C>A | CA389045324 | MYH7 | c.3168G>T (p.Glu1056Asp) n.3274G>T | |
| 14 | g.23422257C= | CA2123450679 | MYH7 | c.3168G= (p.Glu1056=) n.3274G= | |
| 14 | g.23422257C>G | CA036012 | MYH7 | c.3168G>C (p.Glu1056Asp) n.3274G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422257C>T | CA485621837 | MYH7 | c.3168G>A (p.Glu1056=) n.3274G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422258T>A | CA389045326 | MYH7 | c.3167A>T (p.Glu1056Val) n.3273A>T | |
| 14 | g.23422258T>C | CA389045327 | MYH7 | c.3167A>G (p.Glu1056Gly) n.3273A>G | |
| 14 | g.23422258T>G | CA389045328 | MYH7 | c.3167A>C (p.Glu1056Ala) n.3273A>C | |
| 14 | g.23422259C>A | CA389045329 | MYH7 | c.3166G>T (p.Glu1056Ter) n.3272G>T | |
| 14 | g.23422259C>G | CA389045330 | MYH7 | c.3166G>C (p.Glu1056Gln) n.3272G>C | |
| 14 | g.23422259C>T | CA389045331 | MYH7 | c.3166G>A (p.Glu1056Lys) n.3272G>A | COSMIC |
| 14 | g.23422259_23422260insTTCAGGGT | CA2624234407 | MYH7 | c.3165_3166insACCCTGAA (p.Glu1056ThrfsTer7) n.3271_3272insACCCTGAA | gnomAD v4 |
| 14 | g.23422260C>A | CA485621839 | MYH7 | c.3165G>T (p.Leu1055=) n.3271G>T | |
| 14 | g.23422260C= | CA2123450687 | MYH7 | c.3165G= (p.Leu1055=) n.3271G= | |
| 14 | g.23422260C>G | CA485621840 | MYH7 | c.3165G>C (p.Leu1055=) n.3271G>C | |
| 14 | g.23422260C>T | CA485621841 | MYH7 | c.3165G>A (p.Leu1055=) n.3271G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23422261A>C | CA389045332 | MYH7 | c.3164T>G (p.Leu1055Arg) n.3270T>G | |
| 14 | g.23422261A>G | CA389045334 | MYH7 | c.3164T>C (p.Leu1055Pro) n.3270T>C | |
| 14 | g.23422261A>T | CA389045335 | MYH7 | c.3164T>A (p.Leu1055Gln) n.3270T>A | |
| 14 | g.23422262G>A | CA485621843 | MYH7 | c.3163C>T (p.Leu1055=) n.3269C>T | |
| 14 | g.23422262G>C | CA389045337 | MYH7 | c.3163C>G (p.Leu1055Val) n.3269C>G | |
| 14 | g.23422262G= | CA2123450694 | MYH7 | c.3163C= (p.Leu1055=) n.3269C= | |
| 14 | g.23422262G>T | CA013428 | MYH7 | c.3163C>A (p.Leu1055Met) n.3269C>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422263C>A | CA389045340 | MYH7 | c.3162G>T (p.Lys1054Asn) n.3268G>T | |
| 14 | g.23422263C= | CA2123450703 | MYH7 | c.3162G= (p.Lys1054=) n.3268G= | |
| 14 | g.23422263C>G | CA389045338 | MYH7 | c.3162G>C (p.Lys1054Asn) n.3268G>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23422263C>T | CA485621846 | MYH7 | c.3162G>A (p.Lys1054=) n.3268G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422264T>A | CA389045342 | MYH7 | c.3161A>T (p.Lys1054Met) n.3267A>T | |
| 14 | g.23422264T>C | CA389045344 | MYH7 | c.3161A>G (p.Lys1054Arg) n.3267A>G | |
| 14 | g.23422264T>G | CA389045345 | MYH7 | c.3161A>C (p.Lys1054Thr) n.3267A>C | |
| 14 | g.23422265T>A | CA389045346 | MYH7 | c.3160A>T (p.Lys1054Ter) n.3266A>T | |
| 14 | g.23422265T>C | CA013421 | MYH7 | c.3160A>G (p.Lys1054Glu) n.3266A>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422265T>G | CA389045347 | MYH7 | c.3160A>C (p.Lys1054Gln) n.3266A>C | |
| 14 | g.23422265T= | CA2123450710 | MYH7 | c.3160A= (p.Lys1054=) n.3266A= | |
| 14 | g.23422266C>A | CA485621854 | MYH7 | c.3159G>T (p.Arg1053=) n.3265G>T | |
| 14 | g.23422266C= | CA2123450717 | MYH7 | c.3159G= (p.Arg1053=) n.3265G= | |
| 14 | g.23422266C>G | CA485621855 | MYH7 | c.3159G>C (p.Arg1053=) n.3265G>C | |
| 14 | g.23422266C>T | CA035997 | MYH7 | c.3159G>A (p.Arg1053=) n.3265G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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 | 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 | |
| 14 | g.23422285T>C | CA389045404 | MYH7 | c.3140A>G (p.Asp1047Gly) n.3246A>G | |
| 14 | g.23422285T>G | CA389045405 | MYH7 | c.3140A>C (p.Asp1047Ala) n.3246A>C | |
| 14 | g.23422286C>A | CA389045407 | MYH7 | c.3139G>T (p.Asp1047Tyr) n.3245G>T | |
| 14 | g.23422286C>G | CA389045408 | MYH7 | c.3139G>C (p.Asp1047His) n.3245G>C | ClinVar gnomAD v4 |
| 14 | g.23422286C>T | CA389045410 | MYH7 | c.3139G>A (p.Asp1047Asn) n.3245G>A | COSMIC |
| 14 | g.23422287C>A | CA389045412 | MYH7 | c.3138G>T (p.Met1046Ile) n.3244G>T | COSMIC |
| 14 | g.23422287C= | CA2123450857 | MYH7 | c.3138G= (p.Met1046=) n.3244G= | |
| 14 | g.23422287C>G | CA389045413 | MYH7 | c.3138G>C (p.Met1046Ile) n.3244G>C | |
| 14 | g.23422287C>T | CA035844 | MYH7 | c.3138G>A (p.Met1046Ile) n.3244G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23422288A= | CA2123450880 | MYH7 | c.3137T= (p.Met1046=) n.3243T= | |
| 14 | g.23422288A>C | CA035837 | MYH7 | c.3137T>G (p.Met1046Arg) n.3243T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422288A>G | CA389045415 | MYH7 | c.3137T>C (p.Met1046Thr) n.3243T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422288A>T | CA389045417 | MYH7 | c.3137T>A (p.Met1046Lys) n.3243T>A | |
| 14 | g.23422289T>A | CA389045422 | MYH7 | c.3136A>T (p.Met1046Leu) n.3242A>T | |
| 14 | g.23422289T>C | CA389045419 | MYH7 | c.3136A>G (p.Met1046Val) n.3242A>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422289T>G | CA389045421 | MYH7 | c.3136A>C (p.Met1046Leu) n.3242A>C | ClinVar dbSNP |
| 14 | g.23422289T= | CA2123450891 | MYH7 | c.3136A= (p.Met1046=) n.3242A= | |
| 14 | g.23422290G>A | CA485621938 | MYH7 | c.3135C>T (p.Arg1045=) n.3241C>T | |
| 14 | g.23422290G>C | CA485621940 | MYH7 | c.3135C>G (p.Arg1045=) n.3241C>G | |
| 14 | g.23422290G>T | CA485621942 | MYH7 | c.3135C>A (p.Arg1045=) n.3241C>A | dbSNP |
| 14 | g.23422291C>A | CA013375 | MYH7 | c.3134G>T (p.Arg1045Leu) n.3240G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422291C= | CA2123450908 | MYH7 | c.3134G= (p.Arg1045=) n.3240G= | |
| 14 | g.23422291C>G | CA389045425 | MYH7 | c.3134G>C (p.Arg1045Pro) n.3240G>C | dbSNP |
| 14 | g.23422291C>T | CA035801 | MYH7 | c.3134G>A (p.Arg1045His) n.3240G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422292G>A | CA013367 | MYH7 | c.3133C>T (p.Arg1045Cys) n.3239C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422292G>C | CA389045427 | MYH7 | c.3133C>G (p.Arg1045Gly) n.3239C>G | |
| 14 | g.23422292G= | CA2123450917 | MYH7 | c.3133C= (p.Arg1045=) n.3239C= | |
| 14 | g.23422292G>T | CA389045429 | MYH7 | c.3133C>A (p.Arg1045Ser) n.3239C>A | dbSNP gnomAD v4 |
| 14 | g.23422293C>A | CA485621950 | MYH7 | c.3132G>T (p.Val1044=) n.3238G>T | |
| 14 | g.23422293C= | CA2123450924 | MYH7 | c.3132G= (p.Val1044=) n.3238G= | |
| 14 | g.23422293C>G | CA485621952 | MYH7 | c.3132G>C (p.Val1044=) n.3238G>C | |
| 14 | g.23422293C>T | CA485621954 | MYH7 | c.3132G>A (p.Val1044=) n.3238G>A | dbSNP gnomAD v4 |
| 14 | g.23422294A>C | CA389045431 | MYH7 | c.3131T>G (p.Val1044Gly) n.3237T>G | |
| 14 | g.23422294A>G | CA389045432 | MYH7 | c.3131T>C (p.Val1044Ala) n.3237T>C | ClinVar gnomAD v4 |
| 14 | g.23422294A>T | CA389045433 | MYH7 | c.3131T>A (p.Val1044Glu) n.3237T>A | |
| 14 | g.23422295C>A | CA389045435 | MYH7 | c.3130G>T (p.Val1044Leu) n.3236G>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422295C>G | CA389045437 | MYH7 | c.3130G>C (p.Val1044Leu) n.3236G>C | |
| 14 | g.23422295C>T | CA389045438 | MYH7 | c.3130G>A (p.Val1044Met) n.3236G>A | ClinVar |
| 14 | g.23422296C>A | CA389045440 | MYH7 | c.3129G>T (p.Lys1043Asn) n.3235G>T | gnomAD v4 |
| 14 | g.23422296C>G | CA389045441 | MYH7 | c.3129G>C (p.Lys1043Asn) n.3235G>C | |
| 14 | g.23422296C>T | CA485621964 | MYH7 | c.3129G>A (p.Lys1043=) n.3235G>A | ClinVar dbSNP |
| 14 | g.23422297T>A | CA389045442 | MYH7 | c.3128A>T (p.Lys1043Met) n.3234A>T | |
| 14 | g.23422297T>C | CA389045444 | MYH7 | c.3128A>G (p.Lys1043Arg) n.3234A>G | ClinVar dbSNP |
| 14 | g.23422297T>G | CA389045445 | MYH7 | c.3128A>C (p.Lys1043Thr) n.3234A>C | |
| 14 | g.23422297T= | CA2123450926 | MYH7 | c.3128A= (p.Lys1043=) n.3234A= | |
| 14 | g.23422298T>A | CA389045447 | MYH7 | c.3127A>T (p.Lys1043Ter) n.3233A>T | |
| 14 | g.23422298T>C | CA389045449 | MYH7 | c.3127A>G (p.Lys1043Glu) n.3233A>G | |
| 14 | g.23422298T>G | CA389045450 | MYH7 | c.3127A>C (p.Lys1043Gln) n.3233A>C | |
| 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 |
| 14 | g.23422312A= | CA2123450990 | MYH7 | c.3113T= (p.Leu1038=) n.3219T= | |
| 14 | g.23422312A>C | CA389045498 | MYH7 | c.3113T>G (p.Leu1038Arg) n.3219T>G | |
| 14 | g.23422312A>G | CA257817954 | MYH7 | c.3113T>C (p.Leu1038Pro) n.3219T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422312A>T | CA389045499 | MYH7 | c.3113T>A (p.Leu1038Gln) n.3219T>A | |
| 14 | g.23422313G>A | CA485622016 | MYH7 | c.3112C>T (p.Leu1038=) n.3218C>T | |
| 14 | g.23422313G>C | CA389045500 | MYH7 | c.3112C>G (p.Leu1038Val) n.3218C>G | |
| 14 | g.23422313G>T | CA389045506 | MYH7 | c.3112C>A (p.Leu1038Met) n.3218C>A | |
| 14 | g.23422314G>A | CA485622021 | MYH7 | c.3111C>T (p.Ser1037=) n.3217C>T | ClinVar dbSNP COSMIC |
| 14 | g.23422314G>C | CA485622022 | MYH7 | c.3111C>G (p.Ser1037=) n.3217C>G | ClinVar gnomAD v4 |
| 14 | g.23422314G>T | CA485622024 | MYH7 | c.3111C>A (p.Ser1037=) n.3217C>A | |
| 14 | g.23422315G>A | CA389045510 | MYH7 | c.3110C>T (p.Ser1037Phe) n.3216C>T | gnomAD v4 |
| 14 | g.23422315G>C | CA389045509 | MYH7 | c.3110C>G (p.Ser1037Cys) n.3216C>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422315G= | CA2123450999 | MYH7 | c.3110C= (p.Ser1037=) n.3216C= | |
| 14 | g.23422315G>T | CA389045508 | MYH7 | c.3110C>A (p.Ser1037Tyr) n.3216C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422316A>C | CA389045512 | MYH7 | c.3109T>G (p.Ser1037Ala) n.3215T>G | |
| 14 | g.23422316A>G | CA389045513 | MYH7 | c.3109T>C (p.Ser1037Pro) n.3215T>C | |
| 14 | g.23422316A>T | CA389045515 | MYH7 | c.3109T>A (p.Ser1037Thr) n.3215T>A | |
| 14 | g.23422317T>A | CA485622033 | MYH7 | c.3108A>T (p.Gly1036=) n.3214A>T | |
| 14 | g.23422317T>C | CA485622035 | MYH7 | c.3108A>G (p.Gly1036=) n.3214A>G | |
| 14 | g.23422317T>G | CA485622037 | MYH7 | c.3108A>C (p.Gly1036=) n.3214A>C | |
| 14 | g.23422318C>A | CA389045518 | MYH7 | c.3107G>T (p.Gly1036Val) n.3213G>T | |
| 14 | g.23422318C= | CA2123451007 | MYH7 | c.3107G= (p.Gly1036=) n.3213G= | |
| 14 | g.23422318C>G | CA389045519 | MYH7 | c.3107G>C (p.Gly1036Ala) n.3213G>C | |
| 14 | g.23422318C>T | CA257817960 | MYH7 | c.3107G>A (p.Gly1036Glu) n.3213G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422319C>A | CA389045521 | MYH7 | c.3106G>T (p.Gly1036Ter) n.3212G>T | |
| 14 | g.23422319C>G | CA389045522 | MYH7 | c.3106G>C (p.Gly1036Arg) n.3212G>C | |
| 14 | g.23422319C>T | CA389045524 | MYH7 | c.3106G>A (p.Gly1036Arg) n.3212G>A | |
| 14 | g.23422320T>A | CA389045526 | MYH7 | c.3105A>T (p.Glu1035Asp) n.3211A>T | |
| 14 | g.23422320T>C | CA485622047 | MYH7 | c.3105A>G (p.Glu1035=) n.3211A>G | dbSNP |
| 14 | g.23422320T>G | CA389045527 | MYH7 | c.3105A>C (p.Glu1035Asp) n.3211A>C | |
| 14 | g.23422320T= | CA2123451010 | MYH7 | c.3105A= (p.Glu1035=) n.3211A= | |
| 14 | g.23422321T>A | CA389045528 | MYH7 | c.3104A>T (p.Glu1035Val) n.3210A>T | |
| 14 | g.23422321T>C | CA389045529 | MYH7 | c.3104A>G (p.Glu1035Gly) n.3210A>G | |
| 14 | g.23422321T>G | CA389045531 | MYH7 | c.3104A>C (p.Glu1035Ala) n.3210A>C | |
| 14 | g.23422322C>A | CA389045533 | MYH7 | c.3103G>T (p.Glu1035Ter) n.3209G>T | |
| 14 | g.23422322C>G | CA389045535 | MYH7 | c.3103G>C (p.Glu1035Gln) n.3209G>C | |
| 14 | g.23422322C>T | CA389045532 | MYH7 | c.3103G>A (p.Glu1035Lys) n.3209G>A | |
| 14 | g.23422323C>A | CA485622056 | MYH7 | c.3102G>T (p.Leu1034=) n.3208G>T | |
| 14 | g.23422323C>G | CA485622058 | MYH7 | c.3102G>C (p.Leu1034=) n.3208G>C | |
| 14 | g.23422323C>T | CA485622059 | MYH7 | c.3102G>A (p.Leu1034=) n.3208G>A | |
| 14 | g.23422324A>C | CA389045536 | MYH7 | c.3101T>G (p.Leu1034Arg) n.3207T>G | |
| 14 | g.23422324A>G | CA389045537 | MYH7 | c.3101T>C (p.Leu1034Pro) n.3207T>C | |
| 14 | g.23422324A>T | CA389045539 | MYH7 | c.3101T>A (p.Leu1034Gln) n.3207T>A | |
| 14 | g.23422325G>A | CA485622065 | MYH7 | c.3100C>T (p.Leu1034=) n.3206C>T | |
| 14 | g.23422325G>C | CA389045541 | MYH7 | c.3100C>G (p.Leu1034Val) n.3206C>G | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23422325G= | CA2123451018 | MYH7 | c.3100C= (p.Leu1034=) n.3206C= | |
| 14 | g.23422325G>T | CA389045542 | MYH7 | c.3100C>A (p.Leu1034Met) n.3206C>A | |
| 14 | g.23422325_23422326insATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGAC | CA612937150 | MYH7 | c.3100-1_3100insGTCAACACCCTGACTAAGGCCAAAGTCAAGCTGGAGCAGCAAGTGGATGAT (n.3100-1_3100insGTCAACACCCTGACTAAGGCCAAAGTCAAGCTGGAGCAGCAAGTGGATGAT) n.3206-1_3206insGTCAACACCCTGACTAAGGCCAAAGTCAAGCTGGAGCAGCAAGTGGATGAT | gnomAD v2 |
| 14 | g.23422325_23422326insATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTC | CA2800863176 | MYH7 | c.3100-1_3100insGAGAAGAAAGCTCTGCAAGAGGCCCACCAACAGGCTCTGGATGACCTTCAGGCCGAGGAGGACAAGGTCAACACCCTGACTAAGGCCAAAGTCAAGCTGGAGCAGCAAGTGGATGAT (n.3100-1_3100insGAGAAGAAAGCTCTGCAAGAGGCCCACCAACAGGCTCTGGATGACCTTCAGGCCGAGGAGGACAAGGTCAACACCCTGACTAAGGCCAAAGTCAAGCTGGAGCAGCAAGTGGATGAT) n.3206-1_3206insGAGAAGAAAGCTCTGCAAGAGGCCCACCAACAGGCTCTGGATGACCTTCAGGCCGAGGAGGACAAGGTCAACACCCTGACTAAGGCCAAAGTCAAGCTGGAGCAGCAAGTGGATGAT | |
| 14 | g.23422326C>A | CA257817963 | MYH7 | c.3100-1G>T (n.3100-1G>T) n.3206-1G>T | dbSNP |
| 14 | g.23422326C= | CA2123451020 | MYH7 | c.3100-1G= (n.3100-1G=) n.3206-1G= | |
| 14 | g.23422326C>G | CA257817968 | MYH7 | c.3100-1G>C (n.3100-1G>C) n.3206-1G>C | dbSNP |
| 14 | g.23422326C>T | CA389045546 | MYH7 | c.3100-1G>A (n.3100-1G>A) n.3206-1G>A | |
| 14 | g.23422327T>A | CA389045548 | MYH7 | c.3100-2A>T (n.3100-2A>T) n.3206-2A>T | |
| 14 | g.23422327T>C | CA389045550 | MYH7 | c.3100-2A>G (n.3100-2A>G) n.3206-2A>G | |
| 14 | g.23422327T>G | CA035633 | MYH7 | c.3100-2A>C (n.3100-2A>C) n.3206-2A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422327T= | CA2123451028 | MYH7 | c.3100-2A= (n.3100-2A=) n.3206-2A= | |
| 14 | g.23422328G>A | CA2123451037 | MYH7 | c.3100-3C>T (n.3100-3C>T) n.3206-3C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422328G>C | CA257817971 | MYH7 | c.3100-3C>G (n.3100-3C>G) n.3206-3C>G | dbSNP |
| 14 | g.23422328G= | CA2123451033 | MYH7 | c.3100-3C= (n.3100-3C=) n.3206-3C= | |
| 14 | g.23422329G>A | CA2123451042 | MYH7 | c.3100-4C>T (n.3100-4C>T) n.3206-4C>T | dbSNP |
| 14 | g.23422329G= | CA2123451039 | MYH7 | c.3100-4C= (n.3100-4C=) n.3206-4C= | |
| 14 | g.23422329G>T | CA2739277778 | MYH7 | c.3100-4C>A (n.3100-4C>A) n.3206-4C>A | ClinVar |
| 14 | g.23422330T>C | CA035723 | MYH7 | c.3100-5A>G (n.3100-5A>G) n.3206-5A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23422330T= | CA2123451049 | MYH7 | c.3100-5A= (n.3100-5A=) n.3206-5A= | |
| 14 | g.23422331A>G | CA2575504375 | MYH7 | c.3100-6T>C (n.3100-6T>C) n.3206-6T>C | ClinVar |
| 14 | g.23422336_23422337dup | CA7116301 | MYH7 | c.3100-7_3100-6dup (n.3100-7_3100-6dup) n.3206-7_3206-6dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23422334G>A | CA2573149856 | MYH7 | c.3100-9C>T (n.3100-9C>T) n.3206-9C>T | ClinVar dbSNP |
| 14 | g.23422335A>C | CA2575504376 | MYH7 | c.3100-10T>G (n.3100-10T>G) n.3206-10T>G | |
| 14 | g.23422336G>A | CA035564 | MYH7 | c.3100-11C>T (n.3100-11C>T) n.3206-11C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23422336G>C | CA1139663387 | MYH7 | c.3100-11C>G (n.3100-11C>G) n.3206-11C>G | ClinVar dbSNP |
| 14 | g.23422336G= | CA2123451067 | MYH7 | c.3100-11C= (n.3100-11C=) n.3206-11C= | |
| 14 | g.23422337A= | CA2123451077 | MYH7 | c.3100-12T= (n.3100-12T=) n.3206-12T= | |
| 14 | g.23422337A>G | CA2123451080 | MYH7 | c.3100-12T>C (n.3100-12T>C) n.3206-12T>C | dbSNP |
| 14 | g.23422339G>A | CA2580088215 | MYH7 | c.3100-14C>T (n.3100-14C>T) n.3206-14C>T | ClinVar |
| 14 | g.23422339G>C | CA2624234618 | MYH7 | c.3100-14C>G (n.3100-14C>G) n.3206-14C>G | gnomAD v4 |
| 14 | g.23422339G= | CA2123451085 | MYH7 | c.3100-14C= (n.3100-14C=) n.3206-14C= | |
| 14 | g.23422339G>T | CA2123451087 | MYH7 | c.3100-14C>A (n.3100-14C>A) n.3206-14C>A | dbSNP |
| 14 | g.23422340G>A | CA035587 | MYH7 | c.3100-15C>T (n.3100-15C>T) n.3206-15C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422340G>C | CA2728909992 | MYH7 | c.3100-15C>G (n.3100-15C>G) n.3206-15C>G | dbSNP |
| 14 | g.23422340G= | CA2123451091 | MYH7 | c.3100-15C= (n.3100-15C=) n.3206-15C= | |
| 14 | g.23422341A= | CA2123451094 | MYH7 | c.3100-16T= (n.3100-16T=) n.3206-16T= | |
| 14 | g.23422341A>C | CA2575504377 | MYH7 | c.3100-16T>G (n.3100-16T>G) n.3206-16T>G | |
| 14 | g.23422341A>G | CA612937151 | MYH7 | c.3100-16T>C (n.3100-16T>C) n.3206-16T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422342G>A | CA612937152 | MYH7 | c.3100-17C>T (n.3100-17C>T) n.3206-17C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23422342G= | CA2123451097 | MYH7 | c.3100-17C= (n.3100-17C=) n.3206-17C= | |
| 14 | g.23422342G>T | CA2123451102 | MYH7 | c.3100-17C>A (n.3100-17C>A) n.3206-17C>A | dbSNP |
| 14 | g.23422346G>C | CA2624234637 | MYH7 | c.3100-21C>G (n.3100-21C>G) n.3206-21C>G | gnomAD v4 |
| 14 | g.23422347G= | CA2123451104 | MYH7 | c.3100-22C= (n.3100-22C=) n.3206-22C= | |
| 14 | g.23422347G>T | CA257817985 | MYH7 | c.3100-22C>A (n.3100-22C>A) n.3206-22C>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23422348C>G | CA2624234644 | MYH7 | c.3100-23G>C (n.3100-23G>C) n.3206-23G>C | gnomAD v4 |
| 14 | g.23422348C>T | CA2624234646 | MYH7 | c.3100-23G>A (n.3100-23G>A) n.3206-23G>A | gnomAD v4 |
| 14 | g.23422351A= | CA2123451110 | MYH7 | c.3100-26T= (n.3100-26T=) n.3206-26T= | |
| 14 | g.23422351A>G | CA2123451114 | MYH7 | c.3100-26T>C (n.3100-26T>C) n.3206-26T>C | dbSNP gnomAD v4 |
| 14 | g.23422352G>A | CA035610 | MYH7 | c.3100-27C>T (n.3100-27C>T) n.3206-27C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23422352G= | CA2123451119 | MYH7 | c.3100-27C= (n.3100-27C=) n.3206-27C= | |
| 14 | g.23422353T>C | CA257818000 | MYH7 | c.3100-28A>G (n.3100-28A>G) n.3206-28A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422353T= | CA2123451125 | MYH7 | c.3100-28A= (n.3100-28A=) n.3206-28A= |