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 |
|---|---|---|---|---|---|
| 11 | g.47330388_47335387del | CA2740090117 | |||
| 11 | g.47332259_47335041del | CA2580084187 | MYBPC3 | c.2905+1_3628-1del c.2887+1_3610-1del c.2824+1_3547-1del | ClinVar |
| 11 | g.47332677_47333963del | CA2573051316 | MYBPC3 | c.2956_3519del c.2938_3501del c.2875_3438del | ClinVar |
| 11 | g.47332675_47335092del | CA2573051317 | MYBPC3 | c.2855_3518del c.2837_3500del c.2774_3437del | ClinVar |
| 11 | g.47333596_47333810delinsGGCCTGGTA | CA2697548544 | MYBPC3 | c.2995-58_3151delinsTACCAGGCC c.2977-58_3133delinsTACCAGGCC c.2914-58_3070delinsTACCAGGCC | ClinVar |
| 11 | g.47333645_47333658delinsGGCCCGGATGAACA | CA1969335852 | MYBPC3 | c.3089_3102delinsTGTTCATCCGGGCC (p.Leu1030=) c.3071_3084delinsTGTTCATCCGGGCC (p.Leu1024=) c.3008_3021delinsTGTTCATCCGGGCC (p.Leu1003=) | |
| 11 | g.47333647_47333659del | CA013448 | MYBPC3 | c.3089_3101del (p.Leu1030ProfsTer12) c.3071_3083del (p.Leu1024ProfsTer12) c.3008_3020del (p.Leu1003ProfsTer12) | ClinVar dbSNP |
| 11 | g.47333656A>C | CA380315199 | MYBPC3 | c.3091T>G (p.Phe1031Val) c.3073T>G (p.Phe1025Val) c.3010T>G (p.Phe1004Val) | |
| 11 | g.47333656A>G | CA380315200 | MYBPC3 | c.3091T>C (p.Phe1031Leu) c.3073T>C (p.Phe1025Leu) c.3010T>C (p.Phe1004Leu) | |
| 11 | g.47333656A>T | CA380315201 | MYBPC3 | c.3091T>A (p.Phe1031Ile) c.3073T>A (p.Phe1025Ile) c.3010T>A (p.Phe1004Ile) | |
| 11 | g.47333657C>A | CA079118 | MYBPC3 | c.3090G>T (p.Leu1030=) c.3072G>T (p.Leu1024=) c.3009G>T (p.Leu1003=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333657C= | CA1969335868 | MYBPC3 | c.3090G= (p.Leu1030=) c.3072G= (p.Leu1024=) c.3009G= (p.Leu1003=) | |
| 11 | g.47333657C>G | CA474429240 | MYBPC3 | c.3090G>C (p.Leu1030=) c.3072G>C (p.Leu1024=) c.3009G>C (p.Leu1003=) | gnomAD v4 |
| 11 | g.47333657C>T | CA079115 | MYBPC3 | c.3090G>A (p.Leu1030=) c.3072G>A (p.Leu1024=) c.3009G>A (p.Leu1003=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333658A= | CA1969335872 | MYBPC3 | c.3089T= (p.Leu1030=) c.3071T= (p.Leu1024=) c.3008T= (p.Leu1003=) | |
| 11 | g.47333658A>C | CA380315215 | MYBPC3 | c.3089T>G (p.Leu1030Arg) c.3071T>G (p.Leu1024Arg) c.3008T>G (p.Leu1003Arg) | |
| 11 | g.47333658A>G | CA013461 | MYBPC3 | c.3089T>C (p.Leu1030Pro) c.3071T>C (p.Leu1024Pro) c.3008T>C (p.Leu1003Pro) | ClinVar dbSNP |
| 11 | g.47333658A>T | CA380315217 | MYBPC3 | c.3089T>A (p.Leu1030Gln) c.3071T>A (p.Leu1024Gln) c.3008T>A (p.Leu1003Gln) | |
| 11 | g.47333659G>A | CA474429247 | MYBPC3 | c.3088C>T (p.Leu1030=) c.3070C>T (p.Leu1024=) c.3007C>T (p.Leu1003=) | dbSNP |
| 11 | g.47333659G>C | CA380315220 | MYBPC3 | c.3088C>G (p.Leu1030Val) c.3070C>G (p.Leu1024Val) c.3007C>G (p.Leu1003Val) | |
| 11 | g.47333659G= | CA1969335874 | MYBPC3 | c.3088C= (p.Leu1030=) c.3070C= (p.Leu1024=) c.3007C= (p.Leu1003=) | |
| 11 | g.47333659G>T | CA380315222 | MYBPC3 | c.3088C>A (p.Leu1030Met) c.3070C>A (p.Leu1024Met) c.3007C>A (p.Leu1003Met) | gnomAD v4 |
| 11 | g.47333660G>A | CA013444 | MYBPC3 | c.3087C>T (p.Ile1029=) c.3069C>T (p.Ile1023=) c.3006C>T (p.Ile1002=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333660G>C | CA380315224 | MYBPC3 | c.3087C>G (p.Ile1029Met) c.3069C>G (p.Ile1023Met) c.3006C>G (p.Ile1002Met) | |
| 11 | g.47333660G= | CA1969335877 | MYBPC3 | c.3087C= (p.Ile1029=) c.3069C= (p.Ile1023=) c.3006C= (p.Ile1002=) | |
| 11 | g.47333660G>T | CA474429249 | MYBPC3 | c.3087C>A (p.Ile1029=) c.3069C>A (p.Ile1023=) c.3006C>A (p.Ile1002=) | gnomAD v4 |
| 11 | g.47333661A= | CA1969335878 | MYBPC3 | c.3086T= (p.Ile1029=) c.3068T= (p.Ile1023=) c.3005T= (p.Ile1002=) | |
| 11 | g.47333661A>C | CA380315243 | MYBPC3 | c.3086T>G (p.Ile1029Ser) c.3068T>G (p.Ile1023Ser) c.3005T>G (p.Ile1002Ser) | |
| 11 | g.47333661A>G | CA380315239 | MYBPC3 | c.3086T>C (p.Ile1029Thr) c.3068T>C (p.Ile1023Thr) c.3005T>C (p.Ile1002Thr) | |
| 11 | g.47333661A>T | CA013434 | MYBPC3 | c.3086T>A (p.Ile1029Asn) c.3068T>A (p.Ile1023Asn) c.3005T>A (p.Ile1002Asn) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333662T>A | CA380315247 | MYBPC3 | c.3085A>T (p.Ile1029Phe) c.3067A>T (p.Ile1023Phe) c.3004A>T (p.Ile1002Phe) | |
| 11 | g.47333662T>C | CA380315249 | MYBPC3 | c.3085A>G (p.Ile1029Val) c.3067A>G (p.Ile1023Val) c.3004A>G (p.Ile1002Val) | |
| 11 | g.47333662T>G | CA380315252 | MYBPC3 | c.3085A>C (p.Ile1029Leu) c.3067A>C (p.Ile1023Leu) c.3004A>C (p.Ile1002Leu) | |
| 11 | g.47333663G>A | CA474429253 | MYBPC3 | c.3084C>T (p.Thr1028=) c.3066C>T (p.Thr1022=) c.3003C>T (p.Thr1001=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47333663G>C | CA474429252 | MYBPC3 | c.3084C>G (p.Thr1028=) c.3066C>G (p.Thr1022=) c.3003C>G (p.Thr1001=) | |
| 11 | g.47333663G= | CA1969335880 | MYBPC3 | c.3084C= (p.Thr1028=) c.3066C= (p.Thr1022=) c.3003C= (p.Thr1001=) | |
| 11 | g.47333663G>T | CA474429254 | MYBPC3 | c.3084C>A (p.Thr1028=) c.3066C>A (p.Thr1022=) c.3003C>A (p.Thr1001=) | dbSNP gnomAD v4 |
| 11 | g.47333664G>A | CA013426 | MYBPC3 | c.3083C>T (p.Thr1028Ile) c.3065C>T (p.Thr1022Ile) c.3002C>T (p.Thr1001Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333664G>C | CA013420 | MYBPC3 | c.3083C>G (p.Thr1028Ser) c.3065C>G (p.Thr1022Ser) c.3002C>G (p.Thr1001Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47333664G= | CA1969335882 | MYBPC3 | c.3083C= (p.Thr1028=) c.3065C= (p.Thr1022=) c.3002C= (p.Thr1001=) | |
| 11 | g.47333664G>T | CA380315258 | MYBPC3 | c.3083C>A (p.Thr1028Asn) c.3065C>A (p.Thr1022Asn) c.3002C>A (p.Thr1001Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47333665T>A | CA380315260 | MYBPC3 | c.3082A>T (p.Thr1028Ser) c.3064A>T (p.Thr1022Ser) c.3001A>T (p.Thr1001Ser) | |
| 11 | g.47333665T>C | CA380315262 | MYBPC3 | c.3082A>G (p.Thr1028Ala) c.3064A>G (p.Thr1022Ala) c.3001A>G (p.Thr1001Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47333665T>G | CA380315264 | MYBPC3 | c.3082A>C (p.Thr1028Pro) c.3064A>C (p.Thr1022Pro) c.3001A>C (p.Thr1001Pro) | |
| 11 | g.47333665T= | CA1969335884 | MYBPC3 | c.3082A= (p.Thr1028=) c.3064A= (p.Thr1022=) c.3001A= (p.Thr1001=) | |
| 11 | g.47333666G>A | CA474429255 | MYBPC3 | c.3081C>T (p.Asp1027=) c.3063C>T (p.Asp1021=) c.3000C>T (p.Asp1000=) | dbSNP |
| 11 | g.47333666G>C | CA380315275 | MYBPC3 | c.3081C>G (p.Asp1027Glu) c.3063C>G (p.Asp1021Glu) c.3000C>G (p.Asp1000Glu) | |
| 11 | g.47333666G= | CA1969335886 | MYBPC3 | c.3081C= (p.Asp1027=) c.3063C= (p.Asp1021=) c.3000C= (p.Asp1000=) | |
| 11 | g.47333666G>T | CA380315279 | MYBPC3 | c.3081C>A (p.Asp1027Glu) c.3063C>A (p.Asp1021Glu) c.3000C>A (p.Asp1000Glu) | gnomAD v4 |
| 11 | g.47333667T>A | CA380315281 | MYBPC3 | c.3080A>T (p.Asp1027Val) c.3062A>T (p.Asp1021Val) c.2999A>T (p.Asp1000Val) | |
| 11 | g.47333667T>C | CA221682830 | MYBPC3 | c.3080A>G (p.Asp1027Gly) c.3062A>G (p.Asp1021Gly) c.2999A>G (p.Asp1000Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47333667T>G | CA380315283 | MYBPC3 | c.3080A>C (p.Asp1027Ala) c.3062A>C (p.Asp1021Ala) c.2999A>C (p.Asp1000Ala) | |
| 11 | g.47333667T= | CA1969335888 | MYBPC3 | c.3080A= (p.Asp1027=) c.3062A= (p.Asp1021=) c.2999A= (p.Asp1000=) | |
| 11 | g.47333667dup | CA2613393995 | MYBPC3 | c.3080dup (p.Asp1027GlufsTer24) c.3062dup (p.Asp1021GlufsTer24) c.2999dup (p.Asp1000GlufsTer24) | gnomAD v4 |
| 11 | g.47333667_47333668delinsTC | CA1969335887 | MYBPC3 | c.3079_3080delinsGA (p.Asp1027=) c.3061_3062delinsGA (p.Asp1021=) c.2998_2999delinsGA (p.Asp1000=) | |
| 11 | g.47333668C>A | CA380315289 | MYBPC3 | c.3079G>T (p.Asp1027Tyr) c.3061G>T (p.Asp1021Tyr) c.2998G>T (p.Asp1000Tyr) | |
| 11 | g.47333668C= | CA1969335890 | MYBPC3 | c.3079G= (p.Asp1027=) c.3061G= (p.Asp1021=) c.2998G= (p.Asp1000=) | |
| 11 | g.47333668C>G | CA079113 | MYBPC3 | c.3079G>C (p.Asp1027His) c.3061G>C (p.Asp1021His) c.2998G>C (p.Asp1000His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333668C>T | CA380315286 | MYBPC3 | c.3079G>A (p.Asp1027Asn) c.3061G>A (p.Asp1021Asn) c.2998G>A (p.Asp1000Asn) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333668delinsTT | CA296432 | MYBPC3 | c.3079delinsAA (p.Asp1027LysfsTer24) c.3061delinsAA (p.Asp1021LysfsTer24) c.2998delinsAA (p.Asp1000LysfsTer24) | ClinVar dbSNP |
| 11 | g.47333669T>A | CA474429256 | MYBPC3 | c.3078A>T (p.Thr1026=) c.3060A>T (p.Thr1020=) c.2997A>T (p.Thr999=) | |
| 11 | g.47333669T>C | CA474429257 | MYBPC3 | c.3078A>G (p.Thr1026=) c.3060A>G (p.Thr1020=) c.2997A>G (p.Thr999=) | gnomAD v4 |
| 11 | g.47333669T>G | CA474429258 | MYBPC3 | c.3078A>C (p.Thr1026=) c.3060A>C (p.Thr1020=) c.2997A>C (p.Thr999=) | |
| 11 | g.47333670G>A | CA380315291 | MYBPC3 | c.3077C>T (p.Thr1026Ile) c.3059C>T (p.Thr1020Ile) c.2996C>T (p.Thr999Ile) | |
| 11 | g.47333670G>C | CA380315294 | MYBPC3 | c.3077C>G (p.Thr1026Arg) c.3059C>G (p.Thr1020Arg) c.2996C>G (p.Thr999Arg) | |
| 11 | g.47333670G>T | CA380315295 | MYBPC3 | c.3077C>A (p.Thr1026Lys) c.3059C>A (p.Thr1020Lys) c.2996C>A (p.Thr999Lys) | gnomAD v4 |
| 11 | g.47333671T>A | CA380315296 | MYBPC3 | c.3076A>T (p.Thr1026Ser) c.3058A>T (p.Thr1020Ser) c.2995A>T (p.Thr999Ser) | |
| 11 | g.47333671T>C | CA380315297 | MYBPC3 | c.3076A>G (p.Thr1026Ala) c.3058A>G (p.Thr1020Ala) c.2995A>G (p.Thr999Ala) | dbSNP |
| 11 | g.47333671T>G | CA380315298 | MYBPC3 | c.3076A>C (p.Thr1026Pro) c.3058A>C (p.Thr1020Pro) c.2995A>C (p.Thr999Pro) | |
| 11 | g.47333671T= | CA1969335893 | MYBPC3 | c.3076A= (p.Thr1026=) c.3058A= (p.Thr1020=) c.2995A= (p.Thr999=) | |
| 11 | g.47333672G>A | CA474429259 | MYBPC3 | c.3075C>T (p.Pro1025=) c.3057C>T (p.Pro1019=) c.2994C>T (p.Pro998=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333672G>C | CA474429260 | MYBPC3 | c.3075C>G (p.Pro1025=) c.3057C>G (p.Pro1019=) c.2994C>G (p.Pro998=) | |
| 11 | g.47333672G= | CA1969335895 | MYBPC3 | c.3075C= (p.Pro1025=) c.3057C= (p.Pro1019=) c.2994C= (p.Pro998=) | |
| 11 | g.47333672G>T | CA474429261 | MYBPC3 | c.3075C>A (p.Pro1025=) c.3057C>A (p.Pro1019=) c.2994C>A (p.Pro998=) | |
| 11 | g.47333673G>A | CA380315301 | MYBPC3 | c.3074C>T (p.Pro1025Leu) c.3056C>T (p.Pro1019Leu) c.2993C>T (p.Pro998Leu) | |
| 11 | g.47333673G>C | CA380315299 | MYBPC3 | c.3074C>G (p.Pro1025Arg) c.3056C>G (p.Pro1019Arg) c.2993C>G (p.Pro998Arg) | |
| 11 | g.47333673G>T | CA380315300 | MYBPC3 | c.3074C>A (p.Pro1025His) c.3056C>A (p.Pro1019His) c.2993C>A (p.Pro998His) | gnomAD v4 |
| 11 | g.47333674G>A | CA380315302 | MYBPC3 | c.3073C>T (p.Pro1025Ser) c.3055C>T (p.Pro1019Ser) c.2992C>T (p.Pro998Ser) | dbSNP |
| 11 | g.47333674G>C | CA380315303 | MYBPC3 | c.3073C>G (p.Pro1025Ala) c.3055C>G (p.Pro1019Ala) c.2992C>G (p.Pro998Ala) | |
| 11 | g.47333674G= | CA1969335897 | MYBPC3 | c.3073C= (p.Pro1025=) c.3055C= (p.Pro1019=) c.2992C= (p.Pro998=) | |
| 11 | g.47333674G>T | CA380315305 | MYBPC3 | c.3073C>A (p.Pro1025Thr) c.3055C>A (p.Pro1019Thr) c.2992C>A (p.Pro998Thr) | |
| 11 | g.47333675G>A | CA221682834 | MYBPC3 | c.3072C>T (p.Ser1024=) c.3054C>T (p.Ser1018=) c.2991C>T (p.Ser997=) | dbSNP gnomAD v4 |
| 11 | g.47333675G>C | CA380315307 | MYBPC3 | c.3072C>G (p.Ser1024Arg) c.3054C>G (p.Ser1018Arg) c.2991C>G (p.Ser997Arg) | ClinVar dbSNP |
| 11 | g.47333675G= | CA1969335899 | MYBPC3 | c.3072C= (p.Ser1024=) c.3054C= (p.Ser1018=) c.2991C= (p.Ser997=) | |
| 11 | g.47333675G>T | CA079110 | MYBPC3 | c.3072C>A (p.Ser1024Arg) c.3054C>A (p.Ser1018Arg) c.2991C>A (p.Ser997Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333676C>A | CA380315309 | MYBPC3 | c.3071G>T (p.Ser1024Ile) c.3053G>T (p.Ser1018Ile) c.2990G>T (p.Ser997Ile) | |
| 11 | g.47333676C>G | CA380315313 | MYBPC3 | c.3071G>C (p.Ser1024Thr) c.3053G>C (p.Ser1018Thr) c.2990G>C (p.Ser997Thr) | |
| 11 | g.47333676C>T | CA380315311 | MYBPC3 | c.3071G>A (p.Ser1024Asn) c.3053G>A (p.Ser1018Asn) c.2990G>A (p.Ser997Asn) | |
| 11 | g.47333677T>A | CA380315315 | MYBPC3 | c.3070A>T (p.Ser1024Cys) c.3052A>T (p.Ser1018Cys) c.2989A>T (p.Ser997Cys) | |
| 11 | g.47333677T>C | CA380315317 | MYBPC3 | c.3070A>G (p.Ser1024Gly) c.3052A>G (p.Ser1018Gly) c.2989A>G (p.Ser997Gly) | gnomAD v4 |
| 11 | g.47333677T>G | CA380315320 | MYBPC3 | c.3070A>C (p.Ser1024Arg) c.3052A>C (p.Ser1018Arg) c.2989A>C (p.Ser997Arg) | |
| 11 | g.47333678G>A | CA474429262 | MYBPC3 | c.3069C>T (p.Asn1023=) c.3051C>T (p.Asn1017=) c.2988C>T (p.Asn996=) | gnomAD v4 |
| 11 | g.47333678G>C | CA380315325 | MYBPC3 | c.3069C>G (p.Asn1023Lys) c.3051C>G (p.Asn1017Lys) c.2988C>G (p.Asn996Lys) | |
| 11 | g.47333678G= | CA1969335901 | MYBPC3 | c.3069C= (p.Asn1023=) c.3051C= (p.Asn1017=) c.2988C= (p.Asn996=) | |
| 11 | g.47333678G>T | CA052445 | MYBPC3 | c.3069C>A (p.Asn1023Lys) c.3051C>A (p.Asn1017Lys) c.2988C>A (p.Asn996Lys) | |
| 11 | g.47333679T>A | CA380315333 | MYBPC3 | c.3068A>T (p.Asn1023Ile) c.3050A>T (p.Asn1017Ile) c.2987A>T (p.Asn996Ile) | |
| 11 | g.47333679T>C | CA380315335 | MYBPC3 | c.3068A>G (p.Asn1023Ser) c.3050A>G (p.Asn1017Ser) c.2987A>G (p.Asn996Ser) | gnomAD v4 |
| 11 | g.47333679T>G | CA380315338 | MYBPC3 | c.3068A>C (p.Asn1023Thr) c.3050A>C (p.Asn1017Thr) c.2987A>C (p.Asn996Thr) | |
| 11 | g.47333680dup | CA013410 | MYBPC3 | c.3068dup (p.Asn1023LysfsTer28) c.3050dup (p.Asn1017LysfsTer28) c.2987dup (p.Asn996LysfsTer28) | ClinVar dbSNP |
| 11 | g.47333680T>A | CA380315340 | MYBPC3 | c.3067A>T (p.Asn1023Tyr) c.3049A>T (p.Asn1017Tyr) c.2986A>T (p.Asn996Tyr) | gnomAD v4 |
| 11 | g.47333680T>C | CA079109 | MYBPC3 | c.3067A>G (p.Asn1023Asp) c.3049A>G (p.Asn1017Asp) c.2986A>G (p.Asn996Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333680T>G | CA380315345 | MYBPC3 | c.3067A>C (p.Asn1023His) c.3049A>C (p.Asn1017His) c.2986A>C (p.Asn996His) | |
| 11 | g.47333680T= | CA1969335903 | MYBPC3 | c.3067A= (p.Asn1023=) c.3049A= (p.Asn1017=) c.2986A= (p.Asn996=) | |
| 11 | g.47333681G>A | CA474429263 | MYBPC3 | c.3066C>T (p.Arg1022=) c.3048C>T (p.Arg1016=) c.2985C>T (p.Arg995=) | |
| 11 | g.47333681G>C | CA474429264 | MYBPC3 | c.3066C>G (p.Arg1022=) c.3048C>G (p.Arg1016=) c.2985C>G (p.Arg995=) | |
| 11 | g.47333681G>T | CA474429265 | MYBPC3 | c.3066C>A (p.Arg1022=) c.3048C>A (p.Arg1016=) c.2985C>A (p.Arg995=) | |
| 11 | g.47333681dup | CA937666281 | MYBPC3 | c.3066dup (p.Asn1023GlnfsTer28) c.3048dup (p.Asn1017GlnfsTer28) c.2985dup (p.Asn996GlnfsTer28) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47333682C>A | CA380315348 | MYBPC3 | c.3065G>T (p.Arg1022Leu) c.3047G>T (p.Arg1016Leu) c.2984G>T (p.Arg995Leu) | gnomAD v4 |
| 11 | g.47333682C= | CA1969335906 | MYBPC3 | c.3065G= (p.Arg1022=) c.3047G= (p.Arg1016=) c.2984G= (p.Arg995=) | |
| 11 | g.47333682C>G | CA013405 | MYBPC3 | c.3065G>C (p.Arg1022Pro) c.3047G>C (p.Arg1016Pro) c.2984G>C (p.Arg995Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333682C>T | CA013397 | MYBPC3 | c.3065G>A (p.Arg1022His) c.3047G>A (p.Arg1016His) c.2984G>A (p.Arg995His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47333683G>A | CA013388 | MYBPC3 | c.3064C>T (p.Arg1022Cys) c.3046C>T (p.Arg1016Cys) c.2983C>T (p.Arg995Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47333683G>C | CA380315355 | MYBPC3 | c.3064C>G (p.Arg1022Gly) c.3046C>G (p.Arg1016Gly) c.2983C>G (p.Arg995Gly) | |
| 11 | g.47333683G= | CA1969335908 | MYBPC3 | c.3064C= (p.Arg1022=) c.3046C= (p.Arg1016=) c.2983C= (p.Arg995=) | |
| 11 | g.47333683G>T | CA380315358 | MYBPC3 | c.3064C>A (p.Arg1022Ser) c.3046C>A (p.Arg1016Ser) c.2983C>A (p.Arg995Ser) | ClinVar gnomAD v4 |
| 11 | g.47333684G>A | CA474429266 | MYBPC3 | c.3063C>T (p.Ile1021=) c.3045C>T (p.Ile1015=) c.2982C>T (p.Ile994=) | |
| 11 | g.47333684G>C | CA380315361 | MYBPC3 | c.3063C>G (p.Ile1021Met) c.3045C>G (p.Ile1015Met) c.2982C>G (p.Ile994Met) | |
| 11 | g.47333684G>T | CA474429267 | MYBPC3 | c.3063C>A (p.Ile1021=) c.3045C>A (p.Ile1015=) c.2982C>A (p.Ile994=) | gnomAD v4 |
| 11 | g.47333685A>C | CA380315363 | MYBPC3 | c.3062T>G (p.Ile1021Ser) c.3044T>G (p.Ile1015Ser) c.2981T>G (p.Ile994Ser) | |
| 11 | g.47333685A>G | CA380315365 | MYBPC3 | c.3062T>C (p.Ile1021Thr) c.3044T>C (p.Ile1015Thr) c.2981T>C (p.Ile994Thr) | gnomAD v4 |
| 11 | g.47333685A>T | CA380315370 | MYBPC3 | c.3062T>A (p.Ile1021Asn) c.3044T>A (p.Ile1015Asn) c.2981T>A (p.Ile994Asn) | |
| 11 | g.47333686T>A | CA380315377 | MYBPC3 | c.3061A>T (p.Ile1021Phe) c.3043A>T (p.Ile1015Phe) c.2980A>T (p.Ile994Phe) | |
| 11 | g.47333686T>C | CA380315373 | MYBPC3 | c.3061A>G (p.Ile1021Val) c.3043A>G (p.Ile1015Val) c.2980A>G (p.Ile994Val) | |
| 11 | g.47333686T>G | CA380315375 | MYBPC3 | c.3061A>C (p.Ile1021Leu) c.3043A>C (p.Ile1015Leu) c.2980A>C (p.Ile994Leu) | |
| 11 | g.47333687G>A | CA474429268 | MYBPC3 | c.3060C>T (p.Ser1020=) c.3042C>T (p.Ser1014=) c.2979C>T (p.Ser993=) | gnomAD v4 |
| 11 | g.47333687G>C | CA380315380 | MYBPC3 | c.3060C>G (p.Ser1020Arg) c.3042C>G (p.Ser1014Arg) c.2979C>G (p.Ser993Arg) | |
| 11 | g.47333687G>T | CA380315382 | MYBPC3 | c.3060C>A (p.Ser1020Arg) c.3042C>A (p.Ser1014Arg) c.2979C>A (p.Ser993Arg) | |
| 11 | g.47333688C>A | CA380315385 | MYBPC3 | c.3059G>T (p.Ser1020Ile) c.3041G>T (p.Ser1014Ile) c.2978G>T (p.Ser993Ile) | |
| 11 | g.47333688C>G | CA380315386 | MYBPC3 | c.3059G>C (p.Ser1020Thr) c.3041G>C (p.Ser1014Thr) c.2978G>C (p.Ser993Thr) | |
| 11 | g.47333688C>T | CA380315387 | MYBPC3 | c.3059G>A (p.Ser1020Asn) c.3041G>A (p.Ser1014Asn) c.2978G>A (p.Ser993Asn) | gnomAD v4 |
| 11 | g.47333689T>A | CA380315388 | MYBPC3 | c.3058A>T (p.Ser1020Cys) c.3040A>T (p.Ser1014Cys) c.2977A>T (p.Ser993Cys) | |
| 11 | g.47333689T>C | CA380315391 | MYBPC3 | c.3058A>G (p.Ser1020Gly) c.3040A>G (p.Ser1014Gly) c.2977A>G (p.Ser993Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47333689T>G | CA380315389 | MYBPC3 | c.3058A>C (p.Ser1020Arg) c.3040A>C (p.Ser1014Arg) c.2977A>C (p.Ser993Arg) | |
| 11 | g.47333689T= | CA1969335911 | MYBPC3 | c.3058A= (p.Ser1020=) c.3040A= (p.Ser1014=) c.2977A= (p.Ser993=) | |
| 11 | g.47333690C>A | CA474429269 | MYBPC3 | c.3057G>T (p.Val1019=) c.3039G>T (p.Val1013=) c.2976G>T (p.Val992=) | gnomAD v4 |
| 11 | g.47333690C= | CA1969335912 | MYBPC3 | c.3057G= (p.Val1019=) c.3039G= (p.Val1013=) c.2976G= (p.Val992=) | |
| 11 | g.47333690C>G | CA079103 | MYBPC3 | c.3057G>C (p.Val1019=) c.3039G>C (p.Val1013=) c.2976G>C (p.Val992=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333690C>T | CA16606313 | MYBPC3 | c.3057G>A (p.Val1019=) c.3039G>A (p.Val1013=) c.2976G>A (p.Val992=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47333691A= | CA1969335914 | MYBPC3 | c.3056T= (p.Val1019=) c.3038T= (p.Val1013=) c.2975T= (p.Val992=) | |
| 11 | g.47333691A>C | CA380315393 | MYBPC3 | c.3056T>G (p.Val1019Gly) c.3038T>G (p.Val1013Gly) c.2975T>G (p.Val992Gly) | dbSNP |
| 11 | g.47333691A>G | CA380315404 | MYBPC3 | c.3056T>C (p.Val1019Ala) c.3038T>C (p.Val1013Ala) c.2975T>C (p.Val992Ala) | |
| 11 | g.47333691A>T | CA380315407 | MYBPC3 | c.3056T>A (p.Val1019Glu) c.3038T>A (p.Val1013Glu) c.2975T>A (p.Val992Glu) | |
| 11 | g.47333692C>A | CA380315410 | MYBPC3 | c.3055G>T (p.Val1019Leu) c.3037G>T (p.Val1013Leu) c.2974G>T (p.Val992Leu) | |
| 11 | g.47333692C>G | CA380315413 | MYBPC3 | c.3055G>C (p.Val1019Leu) c.3037G>C (p.Val1013Leu) c.2974G>C (p.Val992Leu) | |
| 11 | g.47333692C>T | CA380315415 | MYBPC3 | c.3055G>A (p.Val1019Met) c.3037G>A (p.Val1013Met) c.2974G>A (p.Val992Met) | |
| 11 | g.47333693C>A | CA380315418 | MYBPC3 | c.3054G>T (p.Glu1018Asp) c.3036G>T (p.Glu1012Asp) c.2973G>T (p.Glu991Asp) | gnomAD v4 |
| 11 | g.47333693C>G | CA052383 | MYBPC3 | c.3054G>C (p.Glu1018Asp) c.3036G>C (p.Glu1012Asp) c.2973G>C (p.Glu991Asp) | |
| 11 | g.47333693C>T | CA474429270 | MYBPC3 | c.3054G>A (p.Glu1018=) c.3036G>A (p.Glu1012=) c.2973G>A (p.Glu991=) | |
| 11 | g.47333694T>A | CA380315424 | MYBPC3 | c.3053A>T (p.Glu1018Val) c.3035A>T (p.Glu1012Val) c.2972A>T (p.Glu991Val) | |
| 11 | g.47333694T>C | CA380315430 | MYBPC3 | c.3053A>G (p.Glu1018Gly) c.3035A>G (p.Glu1012Gly) c.2972A>G (p.Glu991Gly) | |
| 11 | g.47333694T>G | CA380315433 | MYBPC3 | c.3053A>C (p.Glu1018Ala) c.3035A>C (p.Glu1012Ala) c.2972A>C (p.Glu991Ala) | |
| 11 | g.47333695C>A | CA380315437 | MYBPC3 | c.3052G>T (p.Glu1018Ter) c.3034G>T (p.Glu1012Ter) c.2971G>T (p.Glu991Ter) | |
| 11 | g.47333695C= | CA1969335917 | MYBPC3 | c.3052G= (p.Glu1018=) c.3034G= (p.Glu1012=) c.2971G= (p.Glu991=) | |
| 11 | g.47333695C>G | CA079101 | MYBPC3 | c.3052G>C (p.Glu1018Gln) c.3034G>C (p.Glu1012Gln) c.2971G>C (p.Glu991Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333695C>T | CA380315440 | MYBPC3 | c.3052G>A (p.Glu1018Lys) c.3034G>A (p.Glu1012Lys) c.2971G>A (p.Glu991Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47333696C>A | CA380315448 | MYBPC3 | c.3051G>T (p.Glu1017Asp) c.3033G>T (p.Glu1011Asp) c.2970G>T (p.Glu990Asp) | |
| 11 | g.47333696C= | CA1969335919 | MYBPC3 | c.3051G= (p.Glu1017=) c.3033G= (p.Glu1011=) c.2970G= (p.Glu990=) | |
| 11 | g.47333696C>G | CA380315450 | MYBPC3 | c.3051G>C (p.Glu1017Asp) c.3033G>C (p.Glu1011Asp) c.2970G>C (p.Glu990Asp) | |
| 11 | g.47333696C>T | CA079099 | MYBPC3 | c.3051G>A (p.Glu1017=) c.3033G>A (p.Glu1011=) c.2970G>A (p.Glu990=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333698_47333720del | CA2695213944 | MYBPC3 | c.3029_3051del (p.Glu1010GlyfsTer?) c.3011_3033del (p.Glu1004GlyfsTer?) c.2948_2970del (p.Glu983GlyfsTer?) | |
| 11 | g.47333697T>A | CA380315453 | MYBPC3 | c.3050A>T (p.Glu1017Val) c.3032A>T (p.Glu1011Val) c.2969A>T (p.Glu990Val) | |
| 11 | g.47333697T>C | CA380315457 | MYBPC3 | c.3050A>G (p.Glu1017Gly) c.3032A>G (p.Glu1011Gly) c.2969A>G (p.Glu990Gly) | |
| 11 | g.47333697T>G | CA380315460 | MYBPC3 | c.3050A>C (p.Glu1017Ala) c.3032A>C (p.Glu1011Ala) c.2969A>C (p.Glu990Ala) | |
| 11 | g.47333697_47333698insG | CA2695213945 | MYBPC3 | c.3049_3050insC (p.Glu1017AlafsTer?) c.3031_3032insC (p.Glu1011AlafsTer?) c.2968_2969insC (p.Glu990AlafsTer?) | |
| 11 | g.47333698C>A | CA380315464 | MYBPC3 | c.3049G>T (p.Glu1017Ter) c.3031G>T (p.Glu1011Ter) c.2968G>T (p.Glu990Ter) | |
| 11 | g.47333698C= | CA1969335921 | MYBPC3 | c.3049G= (p.Glu1017=) c.3031G= (p.Glu1011=) c.2968G= (p.Glu990=) | |
| 11 | g.47333698C>G | CA052376 | MYBPC3 | c.3049G>C (p.Glu1017Gln) c.3031G>C (p.Glu1011Gln) c.2968G>C (p.Glu990Gln) | |
| 11 | g.47333698C>T | CA013374 | MYBPC3 | c.3049G>A (p.Glu1017Lys) c.3031G>A (p.Glu1011Lys) c.2968G>A (p.Glu990Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333699G>A | CA013366 | MYBPC3 | c.3048C>T (p.Gly1016=) c.3030C>T (p.Gly1010=) c.2967C>T (p.Gly989=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333699G>C | CA474429271 | MYBPC3 | c.3048C>G (p.Gly1016=) c.3030C>G (p.Gly1010=) c.2967C>G (p.Gly989=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333699G= | CA1969335925 | MYBPC3 | c.3048C= (p.Gly1016=) c.3030C= (p.Gly1010=) c.2967C= (p.Gly989=) | |
| 11 | g.47333699G>T | CA221682873 | MYBPC3 | c.3048C>A (p.Gly1016=) c.3030C>A (p.Gly1010=) c.2967C>A (p.Gly989=) | dbSNP |
| 11 | g.47333699_47333700insGAG | CA2613394061 | MYBPC3 | c.3048_3049insTCC (p.Gly1016_Glu1017insSer) c.3030_3031insTCC (p.Gly1010_Glu1011insSer) c.2967_2968insTCC (p.Gly989_Glu990insSer) | gnomAD v4 |
| 11 | g.47333699dup | CA2695213946 | MYBPC3 | c.3048dup (p.Glu1017ArgfsTer?) c.3030dup (p.Glu1011ArgfsTer?) c.2967dup (p.Glu990ArgfsTer?) | |
| 11 | g.47333700C>A | CA380315471 | MYBPC3 | c.3047G>T (p.Gly1016Val) c.3029G>T (p.Gly1010Val) c.2966G>T (p.Gly989Val) | |
| 11 | g.47333700C>G | CA380315473 | MYBPC3 | c.3047G>C (p.Gly1016Ala) c.3029G>C (p.Gly1010Ala) c.2966G>C (p.Gly989Ala) | |
| 11 | g.47333700C>T | CA380315475 | MYBPC3 | c.3047G>A (p.Gly1016Asp) c.3029G>A (p.Gly1010Asp) c.2966G>A (p.Gly989Asp) | gnomAD v4 |
| 11 | g.47333701C>A | CA380315477 | MYBPC3 | c.3046G>T (p.Gly1016Cys) c.3028G>T (p.Gly1010Cys) c.2965G>T (p.Gly989Cys) | |
| 11 | g.47333701C>G | CA380315481 | MYBPC3 | c.3046G>C (p.Gly1016Arg) c.3028G>C (p.Gly1010Arg) c.2965G>C (p.Gly989Arg) | |
| 11 | g.47333701C>T | CA052359 | MYBPC3 | c.3046G>A (p.Gly1016Ser) c.3028G>A (p.Gly1010Ser) c.2965G>A (p.Gly989Ser) | |
| 11 | g.47333702T>A | CA474429272 | MYBPC3 | c.3045A>T (p.Ala1015=) c.3027A>T (p.Ala1009=) c.2964A>T (p.Ala988=) | |
| 11 | g.47333702T>C | CA474429273 | MYBPC3 | c.3045A>G (p.Ala1015=) c.3027A>G (p.Ala1009=) c.2964A>G (p.Ala988=) | |
| 11 | g.47333702T>G | CA474429274 | MYBPC3 | c.3045A>C (p.Ala1015=) c.3027A>C (p.Ala1009=) c.2964A>C (p.Ala988=) | |
| 11 | g.47333703G>A | CA380315484 | MYBPC3 | c.3044C>T (p.Ala1015Val) c.3026C>T (p.Ala1009Val) c.2963C>T (p.Ala988Val) | dbSNP |
| 11 | g.47333703G>C | CA380315487 | MYBPC3 | c.3044C>G (p.Ala1015Gly) c.3026C>G (p.Ala1009Gly) c.2963C>G (p.Ala988Gly) | |
| 11 | g.47333703G= | CA1969335926 | MYBPC3 | c.3044C= (p.Ala1015=) c.3026C= (p.Ala1009=) c.2963C= (p.Ala988=) | |
| 11 | g.47333703G>T | CA380315490 | MYBPC3 | c.3044C>A (p.Ala1015Glu) c.3026C>A (p.Ala1009Glu) c.2963C>A (p.Ala988Glu) | gnomAD v4 |
| 11 | g.47333704C>A | CA380315495 | MYBPC3 | c.3043G>T (p.Ala1015Ser) c.3025G>T (p.Ala1009Ser) c.2962G>T (p.Ala988Ser) | |
| 11 | g.47333704C= | CA1969335928 | MYBPC3 | c.3043G= (p.Ala1015=) c.3025G= (p.Ala1009=) c.2962G= (p.Ala988=) | |
| 11 | g.47333704C>G | CA380315497 | MYBPC3 | c.3043G>C (p.Ala1015Pro) c.3025G>C (p.Ala1009Pro) c.2962G>C (p.Ala988Pro) | |
| 11 | g.47333704C>T | CA079094 | MYBPC3 | c.3043G>A (p.Ala1015Thr) c.3025G>A (p.Ala1009Thr) c.2962G>A (p.Ala988Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.47333705dup | CA351856 | MYBPC3 | c.3043dup (p.Ala1015GlyfsTer?) c.3025dup (p.Ala1009GlyfsTer?) c.2962dup (p.Ala988GlyfsTer?) | ClinVar dbSNP |
| 11 | g.47333705del | CA2791331120 | MYBPC3 | c.3043del (p.Ala1015GlnfsTer5) c.3025del (p.Ala1009GlnfsTer5) c.2962del (p.Ala988GlnfsTer5) | |
| 11 | g.47333705C>A | CA474429276 | MYBPC3 | c.3042G>T (p.Leu1014=) c.3024G>T (p.Leu1008=) c.2961G>T (p.Leu987=) | |
| 11 | g.47333705C>G | CA474429275 | MYBPC3 | c.3042G>C (p.Leu1014=) c.3024G>C (p.Leu1008=) c.2961G>C (p.Leu987=) | |
| 11 | g.47333705C>T | CA474429277 | MYBPC3 | c.3042G>A (p.Leu1014=) c.3024G>A (p.Leu1008=) c.2961G>A (p.Leu987=) | |
| 11 | g.47333706del | CA2695213947 | MYBPC3 | c.3041del (p.Leu1014ArgfsTer6) c.3023del (p.Leu1008ArgfsTer6) c.2960del (p.Leu987ArgfsTer6) | |
| 11 | g.47333706A>C | CA380315503 | MYBPC3 | c.3041T>G (p.Leu1014Arg) c.3023T>G (p.Leu1008Arg) c.2960T>G (p.Leu987Arg) | |
| 11 | g.47333706A>G | CA380315504 | MYBPC3 | c.3041T>C (p.Leu1014Pro) c.3023T>C (p.Leu1008Pro) c.2960T>C (p.Leu987Pro) | |
| 11 | g.47333706A>T | CA380315506 | MYBPC3 | c.3041T>A (p.Leu1014Gln) c.3023T>A (p.Leu1008Gln) c.2960T>A (p.Leu987Gln) | |
| 11 | g.47333706_47333707delinsAG | CA1969335930 | MYBPC3 | c.3040_3041delinsCT (p.Leu1014=) c.3022_3023delinsCT (p.Leu1008=) c.2959_2960delinsCT (p.Leu987=) | |
| 11 | g.47333707G>A | CA474429278 | MYBPC3 | c.3040C>T (p.Leu1014=) c.3022C>T (p.Leu1008=) c.2959C>T (p.Leu987=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47333707G>C | CA380315513 | MYBPC3 | c.3040C>G (p.Leu1014Val) c.3022C>G (p.Leu1008Val) c.2959C>G (p.Leu987Val) | |
| 11 | g.47333707G= | CA1969335932 | MYBPC3 | c.3040C= (p.Leu1014=) c.3022C= (p.Leu1008=) c.2959C= (p.Leu987=) | |
| 11 | g.47333707G>T | CA380315511 | MYBPC3 | c.3040C>A (p.Leu1014Met) c.3022C>A (p.Leu1008Met) c.2959C>A (p.Leu987Met) | gnomAD v4 |
| 11 | g.47333710dup | CA2613394080 | MYBPC3 | c.3040dup (p.Leu1014ProfsTer?) c.3022dup (p.Leu1008ProfsTer?) c.2959dup (p.Leu987ProfsTer?) | gnomAD v4 |
| 11 | g.47333709_47333710dup | CA2695213948 | MYBPC3 | c.3039_3040dup (p.Leu1014ProfsTer7) c.3021_3022dup (p.Leu1008ProfsTer7) c.2958_2959dup (p.Leu987ProfsTer7) | |
| 11 | g.47333710del | CA013363 | MYBPC3 | c.3040del (p.Leu1014TrpfsTer6) c.3022del (p.Leu1008TrpfsTer6) c.2959del (p.Leu987TrpfsTer6) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333708G>A | CA474429279 | MYBPC3 | c.3039C>T (p.Pro1013=) c.3021C>T (p.Pro1007=) c.2958C>T (p.Pro986=) | COSMIC COSMIC |
| 11 | g.47333708G>C | CA474429280 | MYBPC3 | c.3039C>G (p.Pro1013=) c.3021C>G (p.Pro1007=) c.2958C>G (p.Pro986=) | |
| 11 | g.47333708G= | CA1969335933 | MYBPC3 | c.3039C= (p.Pro1013=) c.3021C= (p.Pro1007=) c.2958C= (p.Pro986=) | |
| 11 | g.47333708G>T | CA474429281 | MYBPC3 | c.3039C>A (p.Pro1013=) c.3021C>A (p.Pro1007=) c.2958C>A (p.Pro986=) | dbSNP gnomAD v4 |
| 11 | g.47333709G>A | CA380315516 | MYBPC3 | c.3038C>T (p.Pro1013Leu) c.3020C>T (p.Pro1007Leu) c.2957C>T (p.Pro986Leu) | gnomAD v4 |
| 11 | g.47333709G>C | CA380315521 | MYBPC3 | c.3038C>G (p.Pro1013Arg) c.3020C>G (p.Pro1007Arg) c.2957C>G (p.Pro986Arg) | |
| 11 | g.47333709G>T | CA380315519 | MYBPC3 | c.3038C>A (p.Pro1013His) c.3020C>A (p.Pro1007His) c.2957C>A (p.Pro986His) | COSMIC COSMIC |
| 11 | g.47333710G>A | CA380315523 | MYBPC3 | c.3037C>T (p.Pro1013Ser) c.3019C>T (p.Pro1007Ser) c.2956C>T (p.Pro986Ser) | gnomAD v4 |
| 11 | g.47333710G>C | CA221682883 | MYBPC3 | c.3037C>G (p.Pro1013Ala) c.3019C>G (p.Pro1007Ala) c.2956C>G (p.Pro986Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333710G= | CA1969335934 | MYBPC3 | c.3037C= (p.Pro1013=) c.3019C= (p.Pro1007=) c.2956C= (p.Pro986=) | |
| 11 | g.47333710G>T | CA380315526 | MYBPC3 | c.3037C>A (p.Pro1013Thr) c.3019C>A (p.Pro1007Thr) c.2956C>A (p.Pro986Thr) | gnomAD v4 |
| 11 | g.47333711C>A | CA380315532 | MYBPC3 | c.3036G>T (p.Gln1012His) c.3018G>T (p.Gln1006His) c.2955G>T (p.Gln985His) | |
| 11 | g.47333711C>G | CA380315535 | MYBPC3 | c.3036G>C (p.Gln1012His) c.3018G>C (p.Gln1006His) c.2955G>C (p.Gln985His) | |
| 11 | g.47333711C>T | CA474429282 | MYBPC3 | c.3036G>A (p.Gln1012=) c.3018G>A (p.Gln1006=) c.2955G>A (p.Gln985=) | |
| 11 | g.47333712T>A | CA380315539 | MYBPC3 | c.3035A>T (p.Gln1012Leu) c.3017A>T (p.Gln1006Leu) c.2954A>T (p.Gln985Leu) | |
| 11 | g.47333712T>C | CA380315540 | MYBPC3 | c.3035A>G (p.Gln1012Arg) c.3017A>G (p.Gln1006Arg) c.2954A>G (p.Gln985Arg) | |
| 11 | g.47333712T>G | CA380315542 | MYBPC3 | c.3035A>C (p.Gln1012Pro) c.3017A>C (p.Gln1006Pro) c.2954A>C (p.Gln985Pro) | |
| 11 | g.47333713G>A | CA013359 | MYBPC3 | c.3034C>T (p.Gln1012Ter) c.3016C>T (p.Gln1006Ter) c.2953C>T (p.Gln985Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333713G>C | CA380315547 | MYBPC3 | c.3034C>G (p.Gln1012Glu) c.3016C>G (p.Gln1006Glu) c.2953C>G (p.Gln985Glu) | |
| 11 | g.47333713G= | CA1969335938 | MYBPC3 | c.3034C= (p.Gln1012=) c.3016C= (p.Gln1006=) c.2953C= (p.Gln985=) | |
| 11 | g.47333713G>T | CA380315549 | MYBPC3 | c.3034C>A (p.Gln1012Lys) c.3016C>A (p.Gln1006Lys) c.2953C>A (p.Gln985Lys) | gnomAD v4 |
| 11 | g.47333714C>A | CA474429283 | MYBPC3 | c.3033G>T (p.Gly1011=) c.3015G>T (p.Gly1005=) c.2952G>T (p.Gly984=) | gnomAD v4 |
| 11 | g.47333714C= | CA1969335939 | MYBPC3 | c.3033G= (p.Gly1011=) c.3015G= (p.Gly1005=) c.2952G= (p.Gly984=) | |
| 11 | g.47333714C>G | CA474429284 | MYBPC3 | c.3033G>C (p.Gly1011=) c.3015G>C (p.Gly1005=) c.2952G>C (p.Gly984=) | |
| 11 | g.47333714C>T | CA079091 | MYBPC3 | c.3033G>A (p.Gly1011=) c.3015G>A (p.Gly1005=) c.2952G>A (p.Gly984=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333717del | CA2613394101 | MYBPC3 | c.3033del (p.Gln1012SerfsTer8) c.3015del (p.Gln1006SerfsTer8) c.2952del (p.Gln985SerfsTer8) | gnomAD v4 |
| 11 | g.47333715C>A | CA380315553 | MYBPC3 | c.3032G>T (p.Gly1011Val) c.3014G>T (p.Gly1005Val) c.2951G>T (p.Gly984Val) | gnomAD v4 |
| 11 | g.47333715C>G | CA380315556 | MYBPC3 | c.3032G>C (p.Gly1011Ala) c.3014G>C (p.Gly1005Ala) c.2951G>C (p.Gly984Ala) | gnomAD v4 |
| 11 | g.47333715C>T | CA380315557 | MYBPC3 | c.3032G>A (p.Gly1011Glu) c.3014G>A (p.Gly1005Glu) c.2951G>A (p.Gly984Glu) | |
| 11 | g.47333716C>A | CA380315562 | MYBPC3 | c.3031G>T (p.Gly1011Trp) c.3013G>T (p.Gly1005Trp) c.2950G>T (p.Gly984Trp) | |
| 11 | g.47333716C= | CA1969335942 | MYBPC3 | c.3031G= (p.Gly1011=) c.3013G= (p.Gly1005=) c.2950G= (p.Gly984=) | |
| 11 | g.47333716C>G | CA380315561 | MYBPC3 | c.3031G>C (p.Gly1011Arg) c.3013G>C (p.Gly1005Arg) c.2950G>C (p.Gly984Arg) | |
| 11 | g.47333716C>T | CA079089 | MYBPC3 | c.3031G>A (p.Gly1011Arg) c.3013G>A (p.Gly1005Arg) c.2950G>A (p.Gly984Arg) | dbSNP ExAC gnomAD v4 |
| 11 | g.47333716_47333718delinsCCT | CA1969335941 | MYBPC3 | c.3029_3031delinsAGG (p.Glu1010=) c.3011_3013delinsAGG (p.Glu1004=) c.2948_2950delinsAGG (p.Glu983=) | |
| 11 | g.47333717C>A | CA380315574 | MYBPC3 | c.3030G>T (p.Glu1010Asp) c.3012G>T (p.Glu1004Asp) c.2949G>T (p.Glu983Asp) | |
| 11 | g.47333717C>G | CA380315577 | MYBPC3 | c.3030G>C (p.Glu1010Asp) c.3012G>C (p.Glu1004Asp) c.2949G>C (p.Glu983Asp) | ClinVar |
| 11 | g.47333717C>T | CA052320 | MYBPC3 | c.3030G>A (p.Glu1010=) c.3012G>A (p.Glu1004=) c.2949G>A (p.Glu983=) | ClinVar gnomAD v4 |
| 11 | g.47333719_47333720del | CA013350 | MYBPC3 | c.3029_3030del (p.Glu1010GlyfsTer?) c.3011_3012del (p.Glu1004GlyfsTer?) c.2948_2949del (p.Glu983GlyfsTer?) | ClinVar dbSNP |
| 11 | g.47333718del | CA2573130287 | MYBPC3 | c.3029del (p.Glu1010GlyfsTer10) c.3011del (p.Glu1004GlyfsTer10) c.2948del (p.Glu983GlyfsTer10) | |
| 11 | g.47333718T>A | CA380315582 | MYBPC3 | c.3029A>T (p.Glu1010Val) c.3011A>T (p.Glu1004Val) c.2948A>T (p.Glu983Val) | |
| 11 | g.47333718T>C | CA380315584 | MYBPC3 | c.3029A>G (p.Glu1010Gly) c.3011A>G (p.Glu1004Gly) c.2948A>G (p.Glu983Gly) | |
| 11 | g.47333718T>G | CA380315586 | MYBPC3 | c.3029A>C (p.Glu1010Ala) c.3011A>C (p.Glu1004Ala) c.2948A>C (p.Glu983Ala) | |
| 11 | g.47333719del | CA2573332625 | MYBPC3 | c.3028del (p.Glu1010ArgfsTer10) c.3010del (p.Glu1004ArgfsTer10) c.2947del (p.Glu983ArgfsTer10) | |
| 11 | g.47333719C>A | CA380315588 | MYBPC3 | c.3028G>T (p.Glu1010Ter) c.3010G>T (p.Glu1004Ter) c.2947G>T (p.Glu983Ter) | |
| 11 | g.47333719C>G | CA380315590 | MYBPC3 | c.3028G>C (p.Glu1010Gln) c.3010G>C (p.Glu1004Gln) c.2947G>C (p.Glu983Gln) | |
| 11 | g.47333719C>T | CA052311 | MYBPC3 | c.3028G>A (p.Glu1010Lys) c.3010G>A (p.Glu1004Lys) c.2947G>A (p.Glu983Lys) | |
| 11 | g.47333720T>A | CA380315592 | MYBPC3 | c.3027A>T (p.Lys1009Asn) c.3009A>T (p.Lys1003Asn) c.2946A>T (p.Lys982Asn) | |
| 11 | g.47333720T>C | CA474429285 | MYBPC3 | c.3027A>G (p.Lys1009=) c.3009A>G (p.Lys1003=) c.2946A>G (p.Lys982=) | |
| 11 | g.47333720T>G | CA380315594 | MYBPC3 | c.3027A>C (p.Lys1009Asn) c.3009A>C (p.Lys1003Asn) c.2946A>C (p.Lys982Asn) | |
| 11 | g.47333721T>A | CA380315597 | MYBPC3 | c.3026A>T (p.Lys1009Ile) c.3008A>T (p.Lys1003Ile) c.2945A>T (p.Lys982Ile) | |
| 11 | g.47333721T>C | CA380315599 | MYBPC3 | c.3026A>G (p.Lys1009Arg) c.3008A>G (p.Lys1003Arg) c.2945A>G (p.Lys982Arg) | gnomAD v4 |
| 11 | g.47333721T>G | CA380315595 | MYBPC3 | c.3026A>C (p.Lys1009Thr) c.3008A>C (p.Lys1003Thr) c.2945A>C (p.Lys982Thr) | |
| 11 | g.47333722T>A | CA380315601 | MYBPC3 | c.3025A>T (p.Lys1009Ter) c.3007A>T (p.Lys1003Ter) c.2944A>T (p.Lys982Ter) | |
| 11 | g.47333722T>C | CA380315603 | MYBPC3 | c.3025A>G (p.Lys1009Glu) c.3007A>G (p.Lys1003Glu) c.2944A>G (p.Lys982Glu) | |
| 11 | g.47333722T>G | CA380315605 | MYBPC3 | c.3025A>C (p.Lys1009Gln) c.3007A>C (p.Lys1003Gln) c.2944A>C (p.Lys982Gln) | |
| 11 | g.47333723G>A | CA474429286 | MYBPC3 | c.3024C>T (p.Thr1008=) c.3006C>T (p.Thr1002=) c.2943C>T (p.Thr981=) | gnomAD v4 |
| 11 | g.47333723G>C | CA474429287 | MYBPC3 | c.3024C>G (p.Thr1008=) c.3006C>G (p.Thr1002=) c.2943C>G (p.Thr981=) | |
| 11 | g.47333723G= | CA1969335946 | MYBPC3 | c.3024C= (p.Thr1008=) c.3006C= (p.Thr1002=) c.2943C= (p.Thr981=) | |
| 11 | g.47333723G>T | CA221682899 | MYBPC3 | c.3024C>A (p.Thr1008=) c.3006C>A (p.Thr1002=) c.2943C>A (p.Thr981=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333724G>A | CA380315607 | MYBPC3 | c.3023C>T (p.Thr1008Ile) c.3005C>T (p.Thr1002Ile) c.2942C>T (p.Thr981Ile) | |
| 11 | g.47333724G>C | CA380315608 | MYBPC3 | c.3023C>G (p.Thr1008Ser) c.3005C>G (p.Thr1002Ser) c.2942C>G (p.Thr981Ser) | |
| 11 | g.47333724G>T | CA380315609 | MYBPC3 | c.3023C>A (p.Thr1008Asn) c.3005C>A (p.Thr1002Asn) c.2942C>A (p.Thr981Asn) | gnomAD v4 |
| 11 | g.47333725T>A | CA380315612 | MYBPC3 | c.3022A>T (p.Thr1008Ser) c.3004A>T (p.Thr1002Ser) c.2941A>T (p.Thr981Ser) | ClinVar |
| 11 | g.47333725T>C | CA380315614 | MYBPC3 | c.3022A>G (p.Thr1008Ala) c.3004A>G (p.Thr1002Ala) c.2941A>G (p.Thr981Ala) | dbSNP gnomAD v4 |
| 11 | g.47333725T>G | CA380315616 | MYBPC3 | c.3022A>C (p.Thr1008Pro) c.3004A>C (p.Thr1002Pro) c.2941A>C (p.Thr981Pro) | gnomAD v4 |
| 11 | g.47333725T= | CA1969335947 | MYBPC3 | c.3022A= (p.Thr1008=) c.3004A= (p.Thr1002=) c.2941A= (p.Thr981=) | |
| 11 | g.47333726C>A | CA380315619 | MYBPC3 | c.3021G>T (p.Trp1007Cys) c.3003G>T (p.Trp1001Cys) c.2940G>T (p.Trp980Cys) | |
| 11 | g.47333726C= | CA1969335949 | MYBPC3 | c.3021G= (p.Trp1007=) c.3003G= (p.Trp1001=) c.2940G= (p.Trp980=) | |
| 11 | g.47333726C>G | CA380315621 | MYBPC3 | c.3021G>C (p.Trp1007Cys) c.3003G>C (p.Trp1001Cys) c.2940G>C (p.Trp980Cys) | gnomAD v4 |
| 11 | g.47333726C>T | CA013344 | MYBPC3 | c.3021G>A (p.Trp1007Ter) c.3003G>A (p.Trp1001Ter) c.2940G>A (p.Trp980Ter) | ClinVar dbSNP |
| 11 | g.47333727C>A | CA380315626 | MYBPC3 | c.3020G>T (p.Trp1007Leu) c.3002G>T (p.Trp1001Leu) c.2939G>T (p.Trp980Leu) | |
| 11 | g.47333727C= | CA1969335950 | MYBPC3 | c.3020G= (p.Trp1007=) c.3002G= (p.Trp1001=) c.2939G= (p.Trp980=) | |
| 11 | g.47333727C>G | CA380315623 | MYBPC3 | c.3020G>C (p.Trp1007Ser) c.3002G>C (p.Trp1001Ser) c.2939G>C (p.Trp980Ser) | dbSNP |
| 11 | g.47333727C>T | CA380315624 | MYBPC3 | c.3020G>A (p.Trp1007Ter) c.3002G>A (p.Trp1001Ter) c.2939G>A (p.Trp980Ter) | ClinVar |
| 11 | g.47333728A= | CA1969335952 | MYBPC3 | c.3019T= (p.Trp1007=) c.3001T= (p.Trp1001=) c.2938T= (p.Trp980=) | |
| 11 | g.47333728A>C | CA380315628 | MYBPC3 | c.3019T>G (p.Trp1007Gly) c.3001T>G (p.Trp1001Gly) c.2938T>G (p.Trp980Gly) | |
| 11 | g.47333728A>G | CA013338 | MYBPC3 | c.3019T>C (p.Trp1007Arg) c.3001T>C (p.Trp1001Arg) c.2938T>C (p.Trp980Arg) | ClinVar dbSNP |
| 11 | g.47333728A>T | CA380315630 | MYBPC3 | c.3019T>A (p.Trp1007Arg) c.3001T>A (p.Trp1001Arg) c.2938T>A (p.Trp980Arg) | |
| 11 | g.47333729G>A | CA474429290 | MYBPC3 | c.3018C>T (p.Thr1006=) c.3000C>T (p.Thr1000=) c.2937C>T (p.Thr979=) | dbSNP gnomAD v4 |
| 11 | g.47333729G>C | CA474429289 | MYBPC3 | c.3018C>G (p.Thr1006=) c.3000C>G (p.Thr1000=) c.2937C>G (p.Thr979=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47333729G= | CA1969335954 | MYBPC3 | c.3018C= (p.Thr1006=) c.3000C= (p.Thr1000=) c.2937C= (p.Thr979=) | |
| 11 | g.47333729G>T | CA474429288 | MYBPC3 | c.3018C>A (p.Thr1006=) c.3000C>A (p.Thr1000=) c.2937C>A (p.Thr979=) | gnomAD v4 |
| 11 | g.47333730del | CA2695213949 | MYBPC3 | c.3018del (p.Trp1007GlyfsTer13) c.3000del (p.Trp1001GlyfsTer13) c.2937del (p.Trp980GlyfsTer13) | |
| 11 | g.47333730G>A | CA380315633 | MYBPC3 | c.3017C>T (p.Thr1006Ile) c.2999C>T (p.Thr1000Ile) c.2936C>T (p.Thr979Ile) | dbSNP gnomAD v4 |
| 11 | g.47333730G>C | CA380315635 | MYBPC3 | c.3017C>G (p.Thr1006Ser) c.2999C>G (p.Thr1000Ser) c.2936C>G (p.Thr979Ser) | |
| 11 | g.47333730G= | CA1969335955 | MYBPC3 | c.3017C= (p.Thr1006=) c.2999C= (p.Thr1000=) c.2936C= (p.Thr979=) | |
| 11 | g.47333730G>T | CA013329 | MYBPC3 | c.3017C>A (p.Thr1006Asn) c.2999C>A (p.Thr1000Asn) c.2936C>A (p.Thr979Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333731T>A | CA380315638 | MYBPC3 | c.3016A>T (p.Thr1006Ser) c.2998A>T (p.Thr1000Ser) c.2935A>T (p.Thr979Ser) | |
| 11 | g.47333731T>C | CA380315640 | MYBPC3 | c.3016A>G (p.Thr1006Ala) c.2998A>G (p.Thr1000Ala) c.2935A>G (p.Thr979Ala) | dbSNP gnomAD v4 |
| 11 | g.47333731T>G | CA380315642 | MYBPC3 | c.3016A>C (p.Thr1006Pro) c.2998A>C (p.Thr1000Pro) c.2935A>C (p.Thr979Pro) | gnomAD v4 |
| 11 | g.47333731T= | CA1969335956 | MYBPC3 | c.3016A= (p.Thr1006=) c.2998A= (p.Thr1000=) c.2935A= (p.Thr979=) | |
| 11 | g.47333732C>A | CA474429291 | MYBPC3 | c.3015G>T (p.Val1005=) c.2997G>T (p.Val999=) c.2934G>T (p.Val978=) | gnomAD v4 |
| 11 | g.47333732C>G | CA474429292 | MYBPC3 | c.3015G>C (p.Val1005=) c.2997G>C (p.Val999=) c.2934G>C (p.Val978=) | |
| 11 | g.47333732C>T | CA474429293 | MYBPC3 | c.3015G>A (p.Val1005=) c.2997G>A (p.Val999=) c.2934G>A (p.Val978=) | ClinVar |
| 11 | g.47333733A>C | CA380315644 | MYBPC3 | c.3014T>G (p.Val1005Gly) c.2996T>G (p.Val999Gly) c.2933T>G (p.Val978Gly) | |
| 11 | g.47333733A>G | CA380315647 | MYBPC3 | c.3014T>C (p.Val1005Ala) c.2996T>C (p.Val999Ala) c.2933T>C (p.Val978Ala) | |
| 11 | g.47333733A>T | CA380315648 | MYBPC3 | c.3014T>A (p.Val1005Glu) c.2996T>A (p.Val999Glu) c.2933T>A (p.Val978Glu) | ClinVar |
| 11 | g.47333734C>A | CA380315653 | MYBPC3 | c.3013G>T (p.Val1005Leu) c.2995G>T (p.Val999Leu) c.2932G>T (p.Val978Leu) | |
| 11 | g.47333734C>G | CA380315655 | MYBPC3 | c.3013G>C (p.Val1005Leu) c.2995G>C (p.Val999Leu) c.2932G>C (p.Val978Leu) | |
| 11 | g.47333734C>T | CA380315650 | MYBPC3 | c.3013G>A (p.Val1005Met) c.2995G>A (p.Val999Met) c.2932G>A (p.Val978Met) | gnomAD v4 |
| 11 | g.47333741_47333758del | CA915940866 | MYBPC3 | c.2996_3013del c.2978_2995del c.2915_2932del | |
| 11 | g.47333735C>A | CA380315659 | MYBPC3 | c.3012G>T (p.Gln1004His) c.2994G>T (p.Gln998His) c.2931G>T (p.Gln977His) | gnomAD v4 |
| 11 | g.47333735C= | CA1969335958 | MYBPC3 | c.3012G= (p.Gln1004=) c.2994G= (p.Gln998=) c.2931G= (p.Gln977=) | |
| 11 | g.47333735C>G | CA380315657 | MYBPC3 | c.3012G>C (p.Gln1004His) c.2994G>C (p.Gln998His) c.2931G>C (p.Gln977His) | gnomAD v4 |
| 11 | g.47333735C>T | CA474429294 | MYBPC3 | c.3012G>A (p.Gln1004=) c.2994G>A (p.Gln998=) c.2931G>A (p.Gln977=) | dbSNP |
| 11 | g.47333736T>A | CA380315661 | MYBPC3 | c.3011A>T (p.Gln1004Leu) c.2993A>T (p.Gln998Leu) c.2930A>T (p.Gln977Leu) | |
| 11 | g.47333736T>C | CA380315662 | MYBPC3 | c.3011A>G (p.Gln1004Arg) c.2993A>G (p.Gln998Arg) c.2930A>G (p.Gln977Arg) | gnomAD v4 |
| 11 | g.47333736T>G | CA380315663 | MYBPC3 | c.3011A>C (p.Gln1004Pro) c.2993A>C (p.Gln998Pro) c.2930A>C (p.Gln977Pro) | |
| 11 | g.47333736_47333738delinsTGA | CA1969335959 | MYBPC3 | c.3009_3011delinsTCA (p.Pro1003=) c.2991_2993delinsTCA (p.Pro997=) c.2928_2930delinsTCA (p.Pro976=) | |
| 11 | g.47333737G>A | CA380315664 | MYBPC3 | c.3010C>T (p.Gln1004Ter) c.2992C>T (p.Gln998Ter) c.2929C>T (p.Gln977Ter) | |
| 11 | g.47333737G>C | CA380315665 | MYBPC3 | c.3010C>G (p.Gln1004Glu) c.2992C>G (p.Gln998Glu) c.2929C>G (p.Gln977Glu) | |
| 11 | g.47333737G>T | CA380315667 | MYBPC3 | c.3010C>A (p.Gln1004Lys) c.2992C>A (p.Gln998Lys) c.2929C>A (p.Gln977Lys) | gnomAD v4 |
| 11 | g.47333738_47333739del | CA1969335960 | MYBPC3 | c.3009_3010del (p.Gln1004GlyfsTer?) c.2991_2992del (p.Gln998GlyfsTer?) c.2928_2929del (p.Gln977GlyfsTer?) | ClinVar dbSNP |
| 11 | g.47333738A= | CA1969335962 | MYBPC3 | c.3009T= (p.Pro1003=) c.2991T= (p.Pro997=) c.2928T= (p.Pro976=) | |
| 11 | g.47333738A>C | CA079086 | MYBPC3 | c.3009T>G (p.Pro1003=) c.2991T>G (p.Pro997=) c.2928T>G (p.Pro976=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333738A>G | CA474429295 | MYBPC3 | c.3009T>C (p.Pro1003=) c.2991T>C (p.Pro997=) c.2928T>C (p.Pro976=) | |
| 11 | g.47333738A>T | CA474429296 | MYBPC3 | c.3009T>A (p.Pro1003=) c.2991T>A (p.Pro997=) c.2928T>A (p.Pro976=) | |
| 11 | g.47333739G>A | CA380315670 | MYBPC3 | c.3008C>T (p.Pro1003Leu) c.2990C>T (p.Pro997Leu) c.2927C>T (p.Pro976Leu) | dbSNP gnomAD v4 |
| 11 | g.47333739G>C | CA380315671 | MYBPC3 | c.3008C>G (p.Pro1003Arg) c.2990C>G (p.Pro997Arg) c.2927C>G (p.Pro976Arg) | |
| 11 | g.47333739G= | CA1969335964 | MYBPC3 | c.3008C= (p.Pro1003=) c.2990C= (p.Pro997=) c.2927C= (p.Pro976=) | |
| 11 | g.47333739G>T | CA380315673 | MYBPC3 | c.3008C>A (p.Pro1003His) c.2990C>A (p.Pro997His) c.2927C>A (p.Pro976His) | gnomAD v4 |
| 11 | g.47333740G>A | CA380315675 | MYBPC3 | c.3007C>T (p.Pro1003Ser) c.2989C>T (p.Pro997Ser) c.2926C>T (p.Pro976Ser) | |
| 11 | g.47333740G>C | CA380315677 | MYBPC3 | c.3007C>G (p.Pro1003Ala) c.2989C>G (p.Pro997Ala) c.2926C>G (p.Pro976Ala) | |
| 11 | g.47333740G>T | CA380315679 | MYBPC3 | c.3007C>A (p.Pro1003Thr) c.2989C>A (p.Pro997Thr) c.2926C>A (p.Pro976Thr) | gnomAD v4 |
| 11 | g.47333741C>A | CA474429297 | MYBPC3 | c.3006G>T (p.Arg1002=) c.2988G>T (p.Arg996=) c.2925G>T (p.Arg975=) | gnomAD v4 |
| 11 | g.47333741C>G | CA474429298 | MYBPC3 | c.3006G>C (p.Arg1002=) c.2988G>C (p.Arg996=) c.2925G>C (p.Arg975=) | |
| 11 | g.47333741C>T | CA474429299 | MYBPC3 | c.3006G>A (p.Arg1002=) c.2988G>A (p.Arg996=) c.2925G>A (p.Arg975=) | ClinVar gnomAD v4 |
| 11 | g.47333742C>A | CA380315680 | MYBPC3 | c.3005G>T (p.Arg1002Leu) c.2987G>T (p.Arg996Leu) c.2924G>T (p.Arg975Leu) | |
| 11 | g.47333742C= | CA1969335965 | MYBPC3 | c.3005G= (p.Arg1002=) c.2987G= (p.Arg996=) c.2924G= (p.Arg975=) | |
| 11 | g.47333742C>G | CA380315682 | MYBPC3 | c.3005G>C (p.Arg1002Pro) c.2987G>C (p.Arg996Pro) c.2924G>C (p.Arg975Pro) | |
| 11 | g.47333742C>T | CA013325 | MYBPC3 | c.3005G>A (p.Arg1002Gln) c.2987G>A (p.Arg996Gln) c.2924G>A (p.Arg975Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47333742_47333743del | CA2697548545 | MYBPC3 | c.3004_3005del (p.Arg1002AlafsTer?) c.2986_2987del (p.Arg996AlafsTer?) c.2923_2924del (p.Arg975AlafsTer?) | ClinVar |
| 11 | g.47333743G>A | CA013316 | MYBPC3 | c.3004C>T (p.Arg1002Trp) c.2986C>T (p.Arg996Trp) c.2923C>T (p.Arg975Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333743G>C | CA380315685 | MYBPC3 | c.3004C>G (p.Arg1002Gly) c.2986C>G (p.Arg996Gly) c.2923C>G (p.Arg975Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333743G= | CA1969335968 | MYBPC3 | c.3004C= (p.Arg1002=) c.2986C= (p.Arg996=) c.2923C= (p.Arg975=) | |
| 11 | g.47333743G>T | CA474429300 | MYBPC3 | c.3004C>A (p.Arg1002=) c.2986C>A (p.Arg996=) c.2923C>A (p.Arg975=) | gnomAD v4 |
| 11 | g.47333746del | CA2613394187 | MYBPC3 | c.3004del (p.Arg1002GlyfsTer4) c.2986del (p.Arg996GlyfsTer4) c.2923del (p.Arg975GlyfsTer4) | gnomAD v4 |
| 11 | g.47333744G>A | CA013310 | MYBPC3 | c.3003C>T (p.Pro1001=) c.2985C>T (p.Pro995=) c.2922C>T (p.Pro974=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333744G>C | CA474429301 | MYBPC3 | c.3003C>G (p.Pro1001=) c.2985C>G (p.Pro995=) c.2922C>G (p.Pro974=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47333744G= | CA1969335970 | MYBPC3 | c.3003C= (p.Pro1001=) c.2985C= (p.Pro995=) c.2922C= (p.Pro974=) | |
| 11 | g.47333744G>T | CA474429302 | MYBPC3 | c.3003C>A (p.Pro1001=) c.2985C>A (p.Pro995=) c.2922C>A (p.Pro974=) | |
| 11 | g.47333745G>A | CA380315688 | MYBPC3 | c.3002C>T (p.Pro1001Leu) c.2984C>T (p.Pro995Leu) c.2921C>T (p.Pro974Leu) | COSMIC COSMIC |
| 11 | g.47333745G>C | CA380315689 | MYBPC3 | c.3002C>G (p.Pro1001Arg) c.2984C>G (p.Pro995Arg) c.2921C>G (p.Pro974Arg) | |
| 11 | g.47333745G>T | CA380315690 | MYBPC3 | c.3002C>A (p.Pro1001His) c.2984C>A (p.Pro995His) c.2921C>A (p.Pro974His) | gnomAD v4 |
| 11 | g.47333746G>A | CA052267 | MYBPC3 | c.3001C>T (p.Pro1001Ser) c.2983C>T (p.Pro995Ser) c.2920C>T (p.Pro974Ser) | gnomAD v4 |
| 11 | g.47333746G>C | CA380315692 | MYBPC3 | c.3001C>G (p.Pro1001Ala) c.2983C>G (p.Pro995Ala) c.2920C>G (p.Pro974Ala) | |
| 11 | g.47333746G= | CA1969335972 | MYBPC3 | c.3001C= (p.Pro1001=) c.2983C= (p.Pro995=) c.2920C= (p.Pro974=) | |
| 11 | g.47333746G>T | CA380315693 | MYBPC3 | c.3001C>A (p.Pro1001Thr) c.2983C>A (p.Pro995Thr) c.2920C>A (p.Pro974Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47333746_47333751del | CA2613394204 | MYBPC3 | c.2996_3001del (p.Gly999_Pro1001delinsAla) c.2978_2983del (p.Gly993_Pro995delinsAla) c.2915_2920del (p.Gly972_Pro974delinsAla) | gnomAD v4 |
| 11 | g.47333747C>A | CA380315694 | MYBPC3 | c.3000G>T (p.Lys1000Asn) c.2982G>T (p.Lys994Asn) c.2919G>T (p.Lys973Asn) | gnomAD v4 |
| 11 | g.47333747C= | CA1969335974 | MYBPC3 | c.3000G= (p.Lys1000=) c.2982G= (p.Lys994=) c.2919G= (p.Lys973=) | |
| 11 | g.47333747C>G | CA380315696 | MYBPC3 | c.3000G>C (p.Lys1000Asn) c.2982G>C (p.Lys994Asn) c.2919G>C (p.Lys973Asn) | |
| 11 | g.47333747C>T | CA474429303 | MYBPC3 | c.3000G>A (p.Lys1000=) c.2982G>A (p.Lys994=) c.2919G>A (p.Lys973=) | dbSNP gnomAD v4 |
| 11 | g.47333748T>A | CA380315701 | MYBPC3 | c.2999A>T (p.Lys1000Met) c.2981A>T (p.Lys994Met) c.2918A>T (p.Lys973Met) | |
| 11 | g.47333748T>C | CA380315700 | MYBPC3 | c.2999A>G (p.Lys1000Arg) c.2981A>G (p.Lys994Arg) c.2918A>G (p.Lys973Arg) | |
| 11 | g.47333748T>G | CA380315698 | MYBPC3 | c.2999A>C (p.Lys1000Thr) c.2981A>C (p.Lys994Thr) c.2918A>C (p.Lys973Thr) | |
| 11 | g.47333749T>A | CA380315703 | MYBPC3 | c.2998A>T (p.Lys1000Ter) c.2980A>T (p.Lys994Ter) c.2917A>T (p.Lys973Ter) | |
| 11 | g.47333749T>C | CA380315705 | MYBPC3 | c.2998A>G (p.Lys1000Glu) c.2980A>G (p.Lys994Glu) c.2917A>G (p.Lys973Glu) | COSMIC COSMIC |
| 11 | g.47333749T>G | CA380315707 | MYBPC3 | c.2998A>C (p.Lys1000Gln) c.2980A>C (p.Lys994Gln) c.2917A>C (p.Lys973Gln) | |
| 11 | g.47333750del | CA2695213950 | MYBPC3 | c.2997del (p.Lys1000SerfsTer6) c.2979del (p.Lys994SerfsTer6) c.2916del (p.Lys973SerfsTer6) | |
| 11 | g.47333750G>A | CA013301 | MYBPC3 | c.2997C>T (p.Gly999=) c.2979C>T (p.Gly993=) c.2916C>T (p.Gly972=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333750G>C | CA474429304 | MYBPC3 | c.2997C>G (p.Gly999=) c.2979C>G (p.Gly993=) c.2916C>G (p.Gly972=) | |
| 11 | g.47333750G= | CA1969335976 | MYBPC3 | c.2997C= (p.Gly999=) c.2979C= (p.Gly993=) c.2916C= (p.Gly972=) | |
| 11 | g.47333750G>T | CA474429305 | MYBPC3 | c.2997C>A (p.Gly999=) c.2979C>A (p.Gly993=) c.2916C>A (p.Gly972=) | gnomAD v4 |
| 11 | g.47333751C>A | CA380315708 | MYBPC3 | c.2996G>T (p.Gly999Val) c.2978G>T (p.Gly993Val) c.2915G>T (p.Gly972Val) | gnomAD v4 |
| 11 | g.47333751C>G | CA380315709 | MYBPC3 | c.2996G>C (p.Gly999Ala) c.2978G>C (p.Gly993Ala) c.2915G>C (p.Gly972Ala) | |
| 11 | g.47333751C>T | CA380315710 | MYBPC3 | c.2996G>A (p.Gly999Asp) c.2978G>A (p.Gly993Asp) c.2915G>A (p.Gly972Asp) | gnomAD v4 |
| 11 | g.47333753dup | CA913187679 | MYBPC3 | c.2996dup c.2978dup c.2915dup | |
| 11 | g.47333752C>A | CA380315712 | MYBPC3 | c.2995G>T (p.Gly999Cys) c.2977G>T (p.Gly993Cys) c.2914G>T (p.Gly972Cys) | |
| 11 | g.47333752C= | CA1969335979 | MYBPC3 | c.2995G= (p.Gly999=) c.2977G= (p.Gly993=) c.2914G= (p.Gly972=) | |
| 11 | g.47333752C>G | CA380315714 | MYBPC3 | c.2995G>C (p.Gly999Arg) c.2977G>C (p.Gly993Arg) c.2914G>C (p.Gly972Arg) | |
| 11 | g.47333752C>T | CA380315715 | MYBPC3 | c.2995G>A (p.Gly999Ser) c.2977G>A (p.Gly993Ser) c.2914G>A (p.Gly972Ser) | dbSNP |
| 11 | g.47333753C>A | CA380315717 | MYBPC3 | c.2995-1G>T (n.2995-1G>T) c.2977-1G>T (n.2977-1G>T) c.2914-1G>T (n.2914-1G>T) | gnomAD v4 |
| 11 | g.47333753C= | CA1969335981 | MYBPC3 | c.2995-1G= (n.2995-1G=) c.2977-1G= (n.2977-1G=) c.2914-1G= (n.2914-1G=) | |
| 11 | g.47333753C>G | CA380315719 | MYBPC3 | c.2995-1G>C (n.2995-1G>C) c.2977-1G>C (n.2977-1G>C) c.2914-1G>C (n.2914-1G>C) | |
| 11 | g.47333753C>T | CA013288 | MYBPC3 | c.2995-1G>A (n.2995-1G>A) c.2977-1G>A (n.2977-1G>A) c.2914-1G>A (n.2914-1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47333753_47333754del | CA2573053505 | MYBPC3 | c.2995-2_2995-1del (n.2995-2_2995-1del) c.2977-2_2977-1del (n.2977-2_2977-1del) c.2914-2_2914-1del (n.2914-2_2914-1del) | ClinVar dbSNP |
| 11 | g.47333754T>A | CA380315725 | MYBPC3 | c.2995-2A>T (n.2995-2A>T) c.2977-2A>T (n.2977-2A>T) c.2914-2A>T (n.2914-2A>T) | |
| 11 | g.47333754T>C | CA380315722 | MYBPC3 | c.2995-2A>G (n.2995-2A>G) c.2977-2A>G (n.2977-2A>G) c.2914-2A>G (n.2914-2A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47333754T>G | CA380315724 | MYBPC3 | c.2995-2A>C (n.2995-2A>C) c.2977-2A>C (n.2977-2A>C) c.2914-2A>C (n.2914-2A>C) | |
| 11 | g.47333754T= | CA1969335983 | MYBPC3 | c.2995-2A= (n.2995-2A=) c.2977-2A= (n.2977-2A=) c.2914-2A= (n.2914-2A=) | |
| 11 | g.47333755G>C | CA676991690 | MYBPC3 | c.2995-3C>G (n.2995-3C>G) c.2977-3C>G (n.2977-3C>G) c.2914-3C>G (n.2914-3C>G) | dbSNP |
| 11 | g.47333755G= | CA1969335984 | MYBPC3 | c.2995-3C= (n.2995-3C=) c.2977-3C= (n.2977-3C=) c.2914-3C= (n.2914-3C=) |