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.47333649del | CA16613610 | MYBPC3 | c.3100del (p.Ala1034ProfsTer12) c.3082del (p.Ala1028ProfsTer12) c.3019del (p.Ala1007ProfsTer12) | ClinVar dbSNP |
11 | g.47333649C>A | CA380315156 | MYBPC3 | c.3098G>T (p.Arg1033Leu) c.3080G>T (p.Arg1027Leu) c.3017G>T (p.Arg1006Leu) | dbSNP gnomAD v2 |
11 | g.47333649C= | CA1969335863 | MYBPC3 | c.3098G= (p.Arg1033=) c.3080G= (p.Arg1027=) c.3017G= (p.Arg1006=) | |
11 | g.47333649C>G | CA380315158 | MYBPC3 | c.3098G>C (p.Arg1033Pro) c.3080G>C (p.Arg1027Pro) c.3017G>C (p.Arg1006Pro) | |
11 | g.47333649C>T | CA013470 | MYBPC3 | c.3098G>A (p.Arg1033Gln) c.3080G>A (p.Arg1027Gln) c.3017G>A (p.Arg1006Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
11 | g.47333650G>A | CA079120 | MYBPC3 | c.3097C>T (p.Arg1033Trp) c.3079C>T (p.Arg1027Trp) c.3016C>T (p.Arg1006Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333650G>C | CA380315165 | MYBPC3 | c.3097C>G (p.Arg1033Gly) c.3079C>G (p.Arg1027Gly) c.3016C>G (p.Arg1006Gly) | |
11 | g.47333650G= | CA1969335864 | MYBPC3 | c.3097C= (p.Arg1033=) c.3079C= (p.Arg1027=) c.3016C= (p.Arg1006=) | |
11 | g.47333650G>T | CA474429229 | MYBPC3 | c.3097C>A (p.Arg1033=) c.3079C>A (p.Arg1027=) c.3016C>A (p.Arg1006=) | ClinVar dbSNP gnomAD v4 |
11 | g.47333651G>A | CA474429230 | MYBPC3 | c.3096C>T (p.Ile1032=) c.3078C>T (p.Ile1026=) c.3015C>T (p.Ile1005=) | |
11 | g.47333651G>C | CA380315168 | MYBPC3 | c.3096C>G (p.Ile1032Met) c.3078C>G (p.Ile1026Met) c.3015C>G (p.Ile1005Met) | |
11 | g.47333651G>T | CA474429232 | MYBPC3 | c.3096C>A (p.Ile1032=) c.3078C>A (p.Ile1026=) c.3015C>A (p.Ile1005=) | gnomAD v4 |
11 | g.47333652A>C | CA380315172 | MYBPC3 | c.3095T>G (p.Ile1032Ser) c.3077T>G (p.Ile1026Ser) c.3014T>G (p.Ile1005Ser) | |
11 | g.47333652A>G | CA380315176 | MYBPC3 | c.3095T>C (p.Ile1032Thr) c.3077T>C (p.Ile1026Thr) c.3014T>C (p.Ile1005Thr) | ClinVar |
11 | g.47333652A>T | CA380315174 | MYBPC3 | c.3095T>A (p.Ile1032Asn) c.3077T>A (p.Ile1026Asn) c.3014T>A (p.Ile1005Asn) | |
11 | g.47333653T>A | CA380315180 | MYBPC3 | c.3094A>T (p.Ile1032Phe) c.3076A>T (p.Ile1026Phe) c.3013A>T (p.Ile1005Phe) | |
11 | g.47333653T>C | CA380315183 | MYBPC3 | c.3094A>G (p.Ile1032Val) c.3076A>G (p.Ile1026Val) c.3013A>G (p.Ile1005Val) | |
11 | g.47333653T>G | CA380315185 | MYBPC3 | c.3094A>C (p.Ile1032Leu) c.3076A>C (p.Ile1026Leu) c.3013A>C (p.Ile1005Leu) | |
11 | g.47333654G>A | CA474429235 | MYBPC3 | c.3093C>T (p.Phe1031=) c.3075C>T (p.Phe1025=) c.3012C>T (p.Phe1004=) | |
11 | g.47333654G>C | CA380315190 | MYBPC3 | c.3093C>G (p.Phe1031Leu) c.3075C>G (p.Phe1025Leu) c.3012C>G (p.Phe1004Leu) | |
11 | g.47333654G= | CA1969335866 | MYBPC3 | c.3093C= (p.Phe1031=) c.3075C= (p.Phe1025=) c.3012C= (p.Phe1004=) | |
11 | g.47333654G>T | CA380315192 | MYBPC3 | c.3093C>A (p.Phe1031Leu) c.3075C>A (p.Phe1025Leu) c.3012C>A (p.Phe1004Leu) | dbSNP gnomAD v4 |
11 | g.47333655A>C | CA380315197 | MYBPC3 | c.3092T>G (p.Phe1031Cys) c.3074T>G (p.Phe1025Cys) c.3011T>G (p.Phe1004Cys) | |
11 | g.47333655A>G | CA380315198 | MYBPC3 | c.3092T>C (p.Phe1031Ser) c.3074T>C (p.Phe1025Ser) c.3011T>C (p.Phe1004Ser) | |
11 | g.47333655A>T | CA380315194 | MYBPC3 | c.3092T>A (p.Phe1031Tyr) c.3074T>A (p.Phe1025Tyr) c.3011T>A (p.Phe1004Tyr) | |
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=) |