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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47337380G>A | CA676994482 | MYBPC3 | c.2602+11C>T (n.2602+11C>T) c.*107+11C>T (n.*107+11C>T) c.2584+11C>T (n.2584+11C>T) c.2521+11C>T (n.2521+11C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47337380G= | CA1969339645 | MYBPC3 | c.2602+11C= (n.2602+11C=) c.*107+11C= (n.*107+11C=) c.2584+11C= (n.2584+11C=) c.2521+11C= (n.2521+11C=) | |
| 11 | g.47337381G>A | CA2613400615 | MYBPC3 | c.2602+10C>T (n.2602+10C>T) c.*107+10C>T (n.*107+10C>T) c.2584+10C>T (n.2584+10C>T) c.2521+10C>T (n.2521+10C>T) | gnomAD v4 |
| 11 | g.47337381G>T | CA2574815956 | MYBPC3 | c.2602+10C>A (n.2602+10C>A) c.*107+10C>A (n.*107+10C>A) c.2584+10C>A (n.2584+10C>A) c.2521+10C>A (n.2521+10C>A) | gnomAD v4 |
| 11 | g.47337382C>A | CA599374159 | MYBPC3 | c.2602+9G>T (n.2602+9G>T) c.*107+9G>T (n.*107+9G>T) c.2584+9G>T (n.2584+9G>T) c.2521+9G>T (n.2521+9G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47337382C= | CA1969339647 | MYBPC3 | c.2602+9G= (n.2602+9G=) c.*107+9G= (n.*107+9G=) c.2584+9G= (n.2584+9G=) c.2521+9G= (n.2521+9G=) | |
| 11 | g.47337382C>G | CA221688193 | MYBPC3 | c.2602+9G>C (n.2602+9G>C) c.*107+9G>C (n.*107+9G>C) c.2584+9G>C (n.2584+9G>C) c.2521+9G>C (n.2521+9G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47337382C>T | CA16605921 | MYBPC3 | c.2602+9G>A (n.2602+9G>A) c.*107+9G>A (n.*107+9G>A) c.2584+9G>A (n.2584+9G>A) c.2521+9G>A (n.2521+9G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47337385G>A | CA2613400630 | MYBPC3 | c.2602+6C>T (n.2602+6C>T) c.*107+6C>T (n.*107+6C>T) c.2584+6C>T (n.2584+6C>T) c.2521+6C>T (n.2521+6C>T) | gnomAD v4 |
| 11 | g.47337385G>C | CA676994490 | MYBPC3 | c.2602+6C>G (n.2602+6C>G) c.*107+6C>G (n.*107+6C>G) c.2584+6C>G (n.2584+6C>G) c.2521+6C>G (n.2521+6C>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337385G= | CA1969339649 | MYBPC3 | c.2602+6C= (n.2602+6C=) c.*107+6C= (n.*107+6C=) c.2584+6C= (n.2584+6C=) c.2521+6C= (n.2521+6C=) | |
| 11 | g.47337385G>T | CA2840399600 | MYBPC3 | c.2602+6C>A (n.2602+6C>A) c.*107+6C>A (n.*107+6C>A) c.2584+6C>A (n.2584+6C>A) c.2521+6C>A (n.2521+6C>A) | |
| 11 | g.47337386C>A | CA2613400644 | MYBPC3 | c.2602+5G>T (n.2602+5G>T) c.*107+5G>T (n.*107+5G>T) c.2584+5G>T (n.2584+5G>T) c.2521+5G>T (n.2521+5G>T) | gnomAD v4 |
| 11 | g.47337386C>T | CA2613400637 | MYBPC3 | c.2602+5G>A (n.2602+5G>A) c.*107+5G>A (n.*107+5G>A) c.2584+5G>A (n.2584+5G>A) c.2521+5G>A (n.2521+5G>A) | gnomAD v4 |
| 11 | g.47337387T>A | CA2840399601 | MYBPC3 | c.2602+4A>T (n.2602+4A>T) c.*107+4A>T (n.*107+4A>T) c.2584+4A>T (n.2584+4A>T) c.2521+4A>T (n.2521+4A>T) | |
| 11 | g.47337387T>C | CA1969339652 | MYBPC3 | c.2602+4A>G (n.2602+4A>G) c.*107+4A>G (n.*107+4A>G) c.2584+4A>G (n.2584+4A>G) c.2521+4A>G (n.2521+4A>G) | dbSNP |
| 11 | g.47337387T= | CA1969339651 | MYBPC3 | c.2602+4A= (n.2602+4A=) c.*107+4A= (n.*107+4A=) c.2584+4A= (n.2584+4A=) c.2521+4A= (n.2521+4A=) | |
| 11 | g.47337388C>A | CA2838210470 | MYBPC3 | c.2602+3G>T (n.2602+3G>T) c.*107+3G>T (n.*107+3G>T) c.2584+3G>T (n.2584+3G>T) c.2521+3G>T (n.2521+3G>T) | |
| 11 | g.47337389A= | CA1969339653 | MYBPC3 | c.2602+2T= (n.2602+2T=) c.*107+2T= (n.*107+2T=) c.2584+2T= (n.2584+2T=) c.2521+2T= (n.2521+2T=) | |
| 11 | g.47337389A>C | CA380317943 | MYBPC3 | c.2602+2T>G (n.2602+2T>G) c.*107+2T>G (n.*107+2T>G) c.2584+2T>G (n.2584+2T>G) c.2521+2T>G (n.2521+2T>G) | ClinVar dbSNP |
| 11 | g.47337389A>G | CA380317946 | MYBPC3 | c.2602+2T>C (n.2602+2T>C) c.*107+2T>C (n.*107+2T>C) c.2584+2T>C (n.2584+2T>C) c.2521+2T>C (n.2521+2T>C) | |
| 11 | g.47337389A>T | CA380317948 | MYBPC3 | c.2602+2T>A (n.2602+2T>A) c.*107+2T>A (n.*107+2T>A) c.2584+2T>A (n.2584+2T>A) c.2521+2T>A (n.2521+2T>A) | |
| 11 | g.47337390C>A | CA380317950 | MYBPC3 | c.2602+1G>T (n.2602+1G>T) c.*107+1G>T (n.*107+1G>T) c.2584+1G>T (n.2584+1G>T) c.2521+1G>T (n.2521+1G>T) | |
| 11 | g.47337390C>G | CA380317952 | MYBPC3 | c.2602+1G>C (n.2602+1G>C) c.*107+1G>C (n.*107+1G>C) c.2584+1G>C (n.2584+1G>C) c.2521+1G>C (n.2521+1G>C) | |
| 11 | g.47337390C>T | CA380317957 | MYBPC3 | c.2602+1G>A (n.2602+1G>A) c.*107+1G>A (n.*107+1G>A) c.2584+1G>A (n.2584+1G>A) c.2521+1G>A (n.2521+1G>A) | ClinVar |
| 11 | g.47337391C>A | CA380317964 | MYBPC3 | c.2602G>T (p.Gly868Cys) c.*107G>T (n.*107G>T) c.2584G>T (p.Gly862Cys) c.2521G>T (p.Gly841Cys) | dbSNP |
| 11 | g.47337391C= | CA1969339655 | MYBPC3 | c.2602G= (p.Gly868=) c.*107G= (n.*107G=) c.2584G= (p.Gly862=) c.2521G= (p.Gly841=) | |
| 11 | g.47337391C>G | CA380317961 | MYBPC3 | c.2602G>C (p.Gly868Arg) c.*107G>C (n.*107G>C) c.2584G>C (p.Gly862Arg) c.2521G>C (p.Gly841Arg) | |
| 11 | g.47337391C>T | CA078844 | MYBPC3 | c.2602G>A (p.Gly868Ser) c.*107G>A (n.*107G>A) c.2584G>A (p.Gly862Ser) c.2521G>A (p.Gly841Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337392G>A | CA012676 | MYBPC3 | c.2601C>T (p.Ile867=) c.*106C>T (n.*106C>T) c.2583C>T (p.Ile861=) c.2520C>T (p.Ile840=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337392G>C | CA380317967 | MYBPC3 | c.2601C>G (p.Ile867Met) c.*106C>G (n.*106C>G) c.2583C>G (p.Ile861Met) c.2520C>G (p.Ile840Met) | ClinVar |
| 11 | g.47337392G= | CA1969339658 | MYBPC3 | c.2601C= (p.Ile867=) c.*106C= (n.*106C=) c.2583C= (p.Ile861=) c.2520C= (p.Ile840=) | |
| 11 | g.47337392G>T | CA474429515 | MYBPC3 | c.2601C>A (p.Ile867=) c.*106C>A (n.*106C>A) c.2583C>A (p.Ile861=) c.2520C>A (p.Ile840=) | |
| 11 | g.47337393A>C | CA380317970 | MYBPC3 | c.2600T>G (p.Ile867Ser) c.*105T>G (n.*105T>G) c.2582T>G (p.Ile861Ser) c.2519T>G (p.Ile840Ser) | |
| 11 | g.47337393A>G | CA380317972 | MYBPC3 | c.2600T>C (p.Ile867Thr) c.*105T>C (n.*105T>C) c.2582T>C (p.Ile861Thr) c.2519T>C (p.Ile840Thr) | |
| 11 | g.47337393A>T | CA380317974 | MYBPC3 | c.2600T>A (p.Ile867Asn) c.*105T>A (n.*105T>A) c.2582T>A (p.Ile861Asn) c.2519T>A (p.Ile840Asn) | |
| 11 | g.47337394T>A | CA380317976 | MYBPC3 | c.2599A>T (p.Ile867Phe) c.*104A>T (n.*104A>T) c.2581A>T (p.Ile861Phe) c.2518A>T (p.Ile840Phe) | |
| 11 | g.47337394T>C | CA078831 | MYBPC3 | c.2599A>G (p.Ile867Val) c.*104A>G (n.*104A>G) c.2581A>G (p.Ile861Val) c.2518A>G (p.Ile840Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337394T>G | CA380317979 | MYBPC3 | c.2599A>C (p.Ile867Leu) c.*104A>C (n.*104A>C) c.2581A>C (p.Ile861Leu) c.2518A>C (p.Ile840Leu) | |
| 11 | g.47337394T= | CA1969339661 | MYBPC3 | c.2599A= (p.Ile867=) c.*104A= (n.*104A=) c.2581A= (p.Ile861=) c.2518A= (p.Ile840=) | |
| 11 | g.47337395A= | CA1969339663 | MYBPC3 | c.2598T= (p.Pro866=) c.*103T= (n.*103T=) c.2580T= (p.Pro860=) c.2517T= (p.Pro839=) | |
| 11 | g.47337395A>C | CA474429517 | MYBPC3 | c.2598T>G (p.Pro866=) c.*103T>G (n.*103T>G) c.2580T>G (p.Pro860=) c.2517T>G (p.Pro839=) | |
| 11 | g.47337395A>G | CA221688228 | MYBPC3 | c.2598T>C (p.Pro866=) c.*103T>C (n.*103T>C) c.2580T>C (p.Pro860=) c.2517T>C (p.Pro839=) | dbSNP gnomAD v4 |
| 11 | g.47337395A>T | CA474429519 | MYBPC3 | c.2598T>A (p.Pro866=) c.*103T>A (n.*103T>A) c.2580T>A (p.Pro860=) c.2517T>A (p.Pro839=) | |
| 11 | g.47337396G>A | CA380317983 | MYBPC3 | c.2597C>T (p.Pro866Leu) c.*102C>T (n.*102C>T) c.2579C>T (p.Pro860Leu) c.2516C>T (p.Pro839Leu) | |
| 11 | g.47337396G>C | CA380317985 | MYBPC3 | c.2597C>G (p.Pro866Arg) c.*102C>G (n.*102C>G) c.2579C>G (p.Pro860Arg) c.2516C>G (p.Pro839Arg) | dbSNP |
| 11 | g.47337396G= | CA1969339664 | MYBPC3 | c.2597C= (p.Pro866=) c.*102C= (n.*102C=) c.2579C= (p.Pro860=) c.2516C= (p.Pro839=) | |
| 11 | g.47337396G>T | CA380317987 | MYBPC3 | c.2597C>A (p.Pro866His) c.*102C>A (n.*102C>A) c.2579C>A (p.Pro860His) c.2516C>A (p.Pro839His) | gnomAD v4 |
| 11 | g.47337397G>A | CA380317993 | MYBPC3 | c.2596C>T (p.Pro866Ser) c.*101C>T (n.*101C>T) c.2578C>T (p.Pro860Ser) c.2515C>T (p.Pro839Ser) | gnomAD v4 |
| 11 | g.47337397G>C | CA380317992 | MYBPC3 | c.2596C>G (p.Pro866Ala) c.*101C>G (n.*101C>G) c.2578C>G (p.Pro860Ala) c.2515C>G (p.Pro839Ala) | |
| 11 | g.47337397G= | CA1969339666 | MYBPC3 | c.2596C= (p.Pro866=) c.*101C= (n.*101C=) c.2578C= (p.Pro860=) c.2515C= (p.Pro839=) | |
| 11 | g.47337397G>T | CA380317989 | MYBPC3 | c.2596C>A (p.Pro866Thr) c.*101C>A (n.*101C>A) c.2578C>A (p.Pro860Thr) c.2515C>A (p.Pro839Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47337398C>A | CA380317996 | MYBPC3 | c.2595G>T (p.Met865Ile) c.*100G>T (n.*100G>T) c.2577G>T (p.Met859Ile) c.2514G>T (p.Met838Ile) | gnomAD v4 |
| 11 | g.47337398C>G | CA380317999 | MYBPC3 | c.2595G>C (p.Met865Ile) c.*100G>C (n.*100G>C) c.2577G>C (p.Met859Ile) c.2514G>C (p.Met838Ile) | |
| 11 | g.47337398C>T | CA380317997 | MYBPC3 | c.2595G>A (p.Met865Ile) c.*100G>A (n.*100G>A) c.2577G>A (p.Met859Ile) c.2514G>A (p.Met838Ile) | |
| 11 | g.47337399A>C | CA380318002 | MYBPC3 | c.2594T>G (p.Met865Arg) c.*99T>G (n.*99T>G) c.2576T>G (p.Met859Arg) c.2513T>G (p.Met838Arg) | |
| 11 | g.47337399A>G | CA380318005 | MYBPC3 | c.2594T>C (p.Met865Thr) c.*99T>C (n.*99T>C) c.2576T>C (p.Met859Thr) c.2513T>C (p.Met838Thr) | |
| 11 | g.47337399A>T | CA380318003 | MYBPC3 | c.2594T>A (p.Met865Lys) c.*99T>A (n.*99T>A) c.2576T>A (p.Met859Lys) c.2513T>A (p.Met838Lys) | gnomAD v4 |
| 11 | g.47337400T>A | CA380318008 | MYBPC3 | c.2593A>T (p.Met865Leu) c.*98A>T (n.*98A>T) c.2575A>T (p.Met859Leu) c.2512A>T (p.Met838Leu) | |
| 11 | g.47337400T>C | CA380318010 | MYBPC3 | c.2593A>G (p.Met865Val) c.*98A>G (n.*98A>G) c.2575A>G (p.Met859Val) c.2512A>G (p.Met838Val) | |
| 11 | g.47337400T>G | CA380318012 | MYBPC3 | c.2593A>C (p.Met865Leu) c.*98A>C (n.*98A>C) c.2575A>C (p.Met859Leu) c.2512A>C (p.Met838Leu) | |
| 11 | g.47337401G>A | CA050854 | MYBPC3 | c.2592C>T (p.Phe864=) c.*97C>T (n.*97C>T) c.2574C>T (p.Phe858=) c.2511C>T (p.Phe837=) | gnomAD v4 |
| 11 | g.47337401G>C | CA380318014 | MYBPC3 | c.2592C>G (p.Phe864Leu) c.*97C>G (n.*97C>G) c.2574C>G (p.Phe858Leu) c.2511C>G (p.Phe837Leu) | |
| 11 | g.47337401G>T | CA380318016 | MYBPC3 | c.2592C>A (p.Phe864Leu) c.*97C>A (n.*97C>A) c.2574C>A (p.Phe858Leu) c.2511C>A (p.Phe837Leu) | |
| 11 | g.47337402A>C | CA380318019 | MYBPC3 | c.2591T>G (p.Phe864Cys) c.*96T>G (n.*96T>G) c.2573T>G (p.Phe858Cys) c.2510T>G (p.Phe837Cys) | |
| 11 | g.47337402A>G | CA380318020 | MYBPC3 | c.2591T>C (p.Phe864Ser) c.*96T>C (n.*96T>C) c.2573T>C (p.Phe858Ser) c.2510T>C (p.Phe837Ser) | |
| 11 | g.47337402A>T | CA380318021 | MYBPC3 | c.2591T>A (p.Phe864Tyr) c.*96T>A (n.*96T>A) c.2573T>A (p.Phe858Tyr) c.2510T>A (p.Phe837Tyr) | |
| 11 | g.47337403del | CA2573051236 | MYBPC3 | c.2591del (p.Phe864SerfsTer15) c.*96del (n.*96del) c.2573del (p.Phe858SerfsTer15) c.2510del (p.Phe837SerfsTer15) | |
| 11 | g.47337403_47337416dup | CA2695212748 | MYBPC3 | c.2578_2591dup (p.Phe864LeufsTer20) c.*83_*96dup (n.*83_*96dup) c.2560_2573dup (p.Phe858LeufsTer20) c.2497_2510dup (p.Phe837LeufsTer20) | |
| 11 | g.47337403A>C | CA380318025 | MYBPC3 | c.2590T>G (p.Phe864Val) c.*95T>G (n.*95T>G) c.2572T>G (p.Phe858Val) c.2509T>G (p.Phe837Val) | |
| 11 | g.47337403A>G | CA380318026 | MYBPC3 | c.2590T>C (p.Phe864Leu) c.*95T>C (n.*95T>C) c.2572T>C (p.Phe858Leu) c.2509T>C (p.Phe837Leu) | |
| 11 | g.47337403A>T | CA380318028 | MYBPC3 | c.2590T>A (p.Phe864Ile) c.*95T>A (n.*95T>A) c.2572T>A (p.Phe858Ile) c.2509T>A (p.Phe837Ile) | gnomAD v4 |
| 11 | g.47337412_47337424dup | CA923726187 | MYBPC3 | c.2578_2590dup (p.Phe864CysfsTer24) c.*83_*95dup (n.*83_*95dup) c.2560_2572dup (p.Phe858CysfsTer24) c.2497_2509dup (p.Phe837CysfsTer24) | ClinVar dbSNP |
| 11 | g.47337404G>A | CA050770 | MYBPC3 | c.2589C>T (p.Pro863=) c.*94C>T (n.*94C>T) c.2571C>T (p.Pro857=) c.2508C>T (p.Pro836=) | |
| 11 | g.47337404G>C | CA474429520 | MYBPC3 | c.2589C>G (p.Pro863=) c.*94C>G (n.*94C>G) c.2571C>G (p.Pro857=) c.2508C>G (p.Pro836=) | |
| 11 | g.47337404G>T | CA474429521 | MYBPC3 | c.2589C>A (p.Pro863=) c.*94C>A (n.*94C>A) c.2571C>A (p.Pro857=) c.2508C>A (p.Pro836=) | gnomAD v4 |
| 11 | g.47337405G>A | CA380318034 | MYBPC3 | c.2588C>T (p.Pro863Leu) c.*93C>T (n.*93C>T) c.2570C>T (p.Pro857Leu) c.2507C>T (p.Pro836Leu) | |
| 11 | g.47337405G>C | CA380318032 | MYBPC3 | c.2588C>G (p.Pro863Arg) c.*93C>G (n.*93C>G) c.2570C>G (p.Pro857Arg) c.2507C>G (p.Pro836Arg) | gnomAD v4 |
| 11 | g.47337405G>T | CA380318031 | MYBPC3 | c.2588C>A (p.Pro863His) c.*93C>A (n.*93C>A) c.2570C>A (p.Pro857His) c.2507C>A (p.Pro836His) | gnomAD v4 |
| 11 | g.47337406G>A | CA380318036 | MYBPC3 | c.2587C>T (p.Pro863Ser) c.*92C>T (n.*92C>T) c.2569C>T (p.Pro857Ser) c.2506C>T (p.Pro836Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337406G>C | CA380318038 | MYBPC3 | c.2587C>G (p.Pro863Ala) c.*92C>G (n.*92C>G) c.2569C>G (p.Pro857Ala) c.2506C>G (p.Pro836Ala) | |
| 11 | g.47337406G= | CA1969339667 | MYBPC3 | c.2587C= (p.Pro863=) c.*92C= (n.*92C=) c.2569C= (p.Pro857=) c.2506C= (p.Pro836=) | |
| 11 | g.47337406G>T | CA380318040 | MYBPC3 | c.2587C>A (p.Pro863Thr) c.*92C>A (n.*92C>A) c.2569C>A (p.Pro857Thr) c.2506C>A (p.Pro836Thr) | |
| 11 | g.47337407C>A | CA380318042 | MYBPC3 | c.2586G>T (p.Gln862His) c.*91G>T (n.*91G>T) c.2568G>T (p.Gln856His) c.2505G>T (p.Gln835His) | gnomAD v4 |
| 11 | g.47337407C= | CA1969339669 | MYBPC3 | c.2586G= (p.Gln862=) c.*91G= (n.*91G=) c.2568G= (p.Gln856=) c.2505G= (p.Gln835=) | |
| 11 | g.47337407C>G | CA380318044 | MYBPC3 | c.2586G>C (p.Gln862His) c.*91G>C (n.*91G>C) c.2568G>C (p.Gln856His) c.2505G>C (p.Gln835His) | |
| 11 | g.47337407C>T | CA078829 | MYBPC3 | c.2586G>A (p.Gln862=) c.*91G>A (n.*91G>A) c.2568G>A (p.Gln856=) c.2505G>A (p.Gln835=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47337408T>A | CA380318047 | MYBPC3 | c.2585A>T (p.Gln862Leu) c.*90A>T (n.*90A>T) c.2567A>T (p.Gln856Leu) c.2504A>T (p.Gln835Leu) | |
| 11 | g.47337408T>C | CA380318049 | MYBPC3 | c.2585A>G (p.Gln862Arg) c.*90A>G (n.*90A>G) c.2567A>G (p.Gln856Arg) c.2504A>G (p.Gln835Arg) | |
| 11 | g.47337408T>G | CA380318051 | MYBPC3 | c.2585A>C (p.Gln862Pro) c.*90A>C (n.*90A>C) c.2567A>C (p.Gln856Pro) c.2504A>C (p.Gln835Pro) | |
| 11 | g.47337409G>A | CA380318053 | MYBPC3 | c.2584C>T (p.Gln862Ter) c.*89C>T (n.*89C>T) c.2566C>T (p.Gln856Ter) c.2503C>T (p.Gln835Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47337409G>C | CA380318055 | MYBPC3 | c.2584C>G (p.Gln862Glu) c.*89C>G (n.*89C>G) c.2566C>G (p.Gln856Glu) c.2503C>G (p.Gln835Glu) | |
| 11 | g.47337409G= | CA1969339671 | MYBPC3 | c.2584C= (p.Gln862=) c.*89C= (n.*89C=) c.2566C= (p.Gln856=) c.2503C= (p.Gln835=) | |
| 11 | g.47337409G>T | CA380318057 | MYBPC3 | c.2584C>A (p.Gln862Lys) c.*89C>A (n.*89C>A) c.2566C>A (p.Gln856Lys) c.2503C>A (p.Gln835Lys) | gnomAD v4 |
| 11 | g.47337411del | CA2613400754 | MYBPC3 | c.2584del (p.Gln862SerfsTer17) c.*89del (n.*89del) c.2566del (p.Gln856SerfsTer17) c.2503del (p.Gln835SerfsTer17) | gnomAD v4 |
| 11 | g.47337410G>A | CA474429526 | MYBPC3 | c.2583C>T (p.Ser861=) c.*88C>T (n.*88C>T) c.2565C>T (p.Ser855=) c.2502C>T (p.Ser834=) | ClinVar dbSNP |
| 11 | g.47337410G>C | CA474429527 | MYBPC3 | c.2583C>G (p.Ser861=) c.*88C>G (n.*88C>G) c.2565C>G (p.Ser855=) c.2502C>G (p.Ser834=) | ClinVar |
| 11 | g.47337410G= | CA1969339673 | MYBPC3 | c.2583C= (p.Ser861=) c.*88C= (n.*88C=) c.2565C= (p.Ser855=) c.2502C= (p.Ser834=) | |
| 11 | g.47337410G>T | CA474429528 | MYBPC3 | c.2583C>A (p.Ser861=) c.*88C>A (n.*88C>A) c.2565C>A (p.Ser855=) c.2502C>A (p.Ser834=) | |
| 11 | g.47337411G>A | CA380318064 | MYBPC3 | c.2582C>T (p.Ser861Phe) c.*87C>T (n.*87C>T) c.2564C>T (p.Ser855Phe) c.2501C>T (p.Ser834Phe) | COSMIC COSMIC |
| 11 | g.47337411G>C | CA380318062 | MYBPC3 | c.2582C>G (p.Ser861Cys) c.*87C>G (n.*87C>G) c.2564C>G (p.Ser855Cys) c.2501C>G (p.Ser834Cys) | |
| 11 | g.47337411G>T | CA380318059 | MYBPC3 | c.2582C>A (p.Ser861Tyr) c.*87C>A (n.*87C>A) c.2564C>A (p.Ser855Tyr) c.2501C>A (p.Ser834Tyr) | |
| 11 | g.47337412_47337413del | CA050783 | MYBPC3 | c.2581_2582del (p.Ser861ProfsTer22) c.*86_*87del (n.*86_*87del) c.2563_2564del (p.Ser855ProfsTer22) c.2500_2501del (p.Ser834ProfsTer22) | |
| 11 | g.47337412A= | CA1969339675 | MYBPC3 | c.2581T= (p.Ser861=) c.*86T= (n.*86T=) c.2563T= (p.Ser855=) c.2500T= (p.Ser834=) | |
| 11 | g.47337412A>C | CA380318066 | MYBPC3 | c.2581T>G (p.Ser861Ala) c.*86T>G (n.*86T>G) c.2563T>G (p.Ser855Ala) c.2500T>G (p.Ser834Ala) | |
| 11 | g.47337412A>G | CA221688238 | MYBPC3 | c.2581T>C (p.Ser861Pro) c.*86T>C (n.*86T>C) c.2563T>C (p.Ser855Pro) c.2500T>C (p.Ser834Pro) | dbSNP |
| 11 | g.47337412A>T | CA380318069 | MYBPC3 | c.2581T>A (p.Ser861Thr) c.*86T>A (n.*86T>A) c.2563T>A (p.Ser855Thr) c.2500T>A (p.Ser834Thr) | |
| 11 | g.47337413G>A | CA474429532 | MYBPC3 | c.2580C>T (p.Ala860=) c.*85C>T (n.*85C>T) c.2562C>T (p.Ala854=) c.2499C>T (p.Ala833=) | |
| 11 | g.47337413G>C | CA474429533 | MYBPC3 | c.2580C>G (p.Ala860=) c.*85C>G (n.*85C>G) c.2562C>G (p.Ala854=) c.2499C>G (p.Ala833=) | |
| 11 | g.47337413G>T | CA474429534 | MYBPC3 | c.2580C>A (p.Ala860=) c.*85C>A (n.*85C>A) c.2562C>A (p.Ala854=) c.2499C>A (p.Ala833=) | gnomAD v4 |
| 11 | g.47337414G>A | CA380318071 | MYBPC3 | c.2579C>T (p.Ala860Val) c.*84C>T (n.*84C>T) c.2561C>T (p.Ala854Val) c.2498C>T (p.Ala833Val) | gnomAD v4 |
| 11 | g.47337414G>C | CA380318073 | MYBPC3 | c.2579C>G (p.Ala860Gly) c.*84C>G (n.*84C>G) c.2561C>G (p.Ala854Gly) c.2498C>G (p.Ala833Gly) | |
| 11 | g.47337414G>T | CA380318075 | MYBPC3 | c.2579C>A (p.Ala860Asp) c.*84C>A (n.*84C>A) c.2561C>A (p.Ala854Asp) c.2498C>A (p.Ala833Asp) | gnomAD v4 |
| 11 | g.47337415C>A | CA380318077 | MYBPC3 | c.2578G>T (p.Ala860Ser) c.*83G>T (n.*83G>T) c.2560G>T (p.Ala854Ser) c.2497G>T (p.Ala833Ser) | |
| 11 | g.47337415C= | CA1969339677 | MYBPC3 | c.2578G= (p.Ala860=) c.*83G= (n.*83G=) c.2560G= (p.Ala854=) c.2497G= (p.Ala833=) | |
| 11 | g.47337415C>G | CA380318079 | MYBPC3 | c.2578G>C (p.Ala860Pro) c.*83G>C (n.*83G>C) c.2560G>C (p.Ala854Pro) c.2497G>C (p.Ala833Pro) | dbSNP |
| 11 | g.47337415C>T | CA380318081 | MYBPC3 | c.2578G>A (p.Ala860Thr) c.*83G>A (n.*83G>A) c.2560G>A (p.Ala854Thr) c.2497G>A (p.Ala833Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47337416del | CA2695239088 | MYBPC3 | c.2577del (p.Ala860ProfsTer19) c.*82del (n.*82del) c.2559del (p.Ala854ProfsTer19) c.2496del (p.Ala833ProfsTer19) | |
| 11 | g.47337416A= | CA1969339679 | MYBPC3 | c.2577T= (p.Pro859=) c.*82T= (n.*82T=) c.2559T= (p.Pro853=) c.2496T= (p.Pro832=) | |
| 11 | g.47337416A>C | CA474429537 | MYBPC3 | c.2577T>G (p.Pro859=) c.*82T>G (n.*82T>G) c.2559T>G (p.Pro853=) c.2496T>G (p.Pro832=) | |
| 11 | g.47337416A>G | CA474429538 | MYBPC3 | c.2577T>C (p.Pro859=) c.*82T>C (n.*82T>C) c.2559T>C (p.Pro853=) c.2496T>C (p.Pro832=) | |
| 11 | g.47337416A>T | CA474429539 | MYBPC3 | c.2577T>A (p.Pro859=) c.*82T>A (n.*82T>A) c.2559T>A (p.Pro853=) c.2496T>A (p.Pro832=) | |
| 11 | g.47337417G>A | CA078825 | MYBPC3 | c.2576C>T (p.Pro859Leu) c.*81C>T (n.*81C>T) c.2558C>T (p.Pro853Leu) c.2495C>T (p.Pro832Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47337417G>C | CA380318084 | MYBPC3 | c.2576C>G (p.Pro859Arg) c.*81C>G (n.*81C>G) c.2558C>G (p.Pro853Arg) c.2495C>G (p.Pro832Arg) | dbSNP |
| 11 | g.47337417G= | CA1969339681 | MYBPC3 | c.2576C= (p.Pro859=) c.*81C= (n.*81C=) c.2558C= (p.Pro853=) c.2495C= (p.Pro832=) | |
| 11 | g.47337417G>T | CA380318086 | MYBPC3 | c.2576C>A (p.Pro859His) c.*81C>A (n.*81C>A) c.2558C>A (p.Pro853His) c.2495C>A (p.Pro832His) | gnomAD v4 |
| 11 | g.47337421_47337425dup | CA915948146 | MYBPC3 | c.2572_2576dup (p.Ser861LeufsTer20) c.*77_*81dup (n.*77_*81dup) c.2554_2558dup (p.Ser855LeufsTer20) c.2491_2495dup (p.Ser834LeufsTer20) | ClinVar dbSNP |
| 11 | g.47337418G>A | CA380318090 | MYBPC3 | c.2575C>T (p.Pro859Ser) c.*80C>T (n.*80C>T) c.2557C>T (p.Pro853Ser) c.2494C>T (p.Pro832Ser) | |
| 11 | g.47337418G>C | CA050793 | MYBPC3 | c.2575C>G (p.Pro859Ala) c.*80C>G (n.*80C>G) c.2557C>G (p.Pro853Ala) c.2494C>G (p.Pro832Ala) | |
| 11 | g.47337418G>T | CA380318088 | MYBPC3 | c.2575C>A (p.Pro859Thr) c.*80C>A (n.*80C>A) c.2557C>A (p.Pro853Thr) c.2494C>A (p.Pro832Thr) | |
| 11 | g.47337419G>A | CA474429540 | MYBPC3 | c.2574C>T (p.Ser858=) c.*79C>T (n.*79C>T) c.2556C>T (p.Ser852=) c.2493C>T (p.Ser831=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47337419G>C | CA380318092 | MYBPC3 | c.2574C>G (p.Ser858Arg) c.*79C>G (n.*79C>G) c.2556C>G (p.Ser852Arg) c.2493C>G (p.Ser831Arg) | ClinVar dbSNP |
| 11 | g.47337419G= | CA1969339683 | MYBPC3 | c.2574C= (p.Ser858=) c.*79C= (n.*79C=) c.2556C= (p.Ser852=) c.2493C= (p.Ser831=) | |
| 11 | g.47337419G>T | CA380318095 | MYBPC3 | c.2574C>A (p.Ser858Arg) c.*79C>A (n.*79C>A) c.2556C>A (p.Ser852Arg) c.2493C>A (p.Ser831Arg) | ClinVar dbSNP |
| 11 | g.47337420C>A | CA380318096 | MYBPC3 | c.2573G>T (p.Ser858Ile) c.*78G>T (n.*78G>T) c.2555G>T (p.Ser852Ile) c.2492G>T (p.Ser831Ile) | gnomAD v4 |
| 11 | g.47337420C= | CA1969339685 | MYBPC3 | c.2573G= (p.Ser858=) c.*78G= (n.*78G=) c.2555G= (p.Ser852=) c.2492G= (p.Ser831=) | |
| 11 | g.47337420C>G | CA380318098 | MYBPC3 | c.2573G>C (p.Ser858Thr) c.*78G>C (n.*78G>C) c.2555G>C (p.Ser852Thr) c.2492G>C (p.Ser831Thr) | |
| 11 | g.47337420C>T | CA012667 | MYBPC3 | c.2573G>A (p.Ser858Asn) c.*78G>A (n.*78G>A) c.2555G>A (p.Ser852Asn) c.2492G>A (p.Ser831Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337421T>A | CA380318105 | MYBPC3 | c.2572A>T (p.Ser858Cys) c.*77A>T (n.*77A>T) c.2554A>T (p.Ser852Cys) c.2491A>T (p.Ser831Cys) | |
| 11 | g.47337421T>C | CA380318101 | MYBPC3 | c.2572A>G (p.Ser858Gly) c.*77A>G (n.*77A>G) c.2554A>G (p.Ser852Gly) c.2491A>G (p.Ser831Gly) | |
| 11 | g.47337421T>G | CA380318103 | MYBPC3 | c.2572A>C (p.Ser858Arg) c.*77A>C (n.*77A>C) c.2554A>C (p.Ser852Arg) c.2491A>C (p.Ser831Arg) | ClinVar dbSNP |
| 11 | g.47337421T= | CA1969339689 | MYBPC3 | c.2572A= (p.Ser858=) c.*77A= (n.*77A=) c.2554A= (p.Ser852=) c.2491A= (p.Ser831=) | |
| 11 | g.47337421_47337422insTT | CA16613382 | MYBPC3 | c.2572_2573insAA (p.Ser858LysfsTer22) c.*77_*78insAA (n.*77_*78insAA) c.2554_2555insAA (p.Ser852LysfsTer22) c.2491_2492insAA (p.Ser831LysfsTer22) | ClinVar dbSNP |
| 11 | g.47337422G>A | CA474429543 | MYBPC3 | c.2571C>T (p.Pro857=) c.*76C>T (n.*76C>T) c.2553C>T (p.Pro851=) c.2490C>T (p.Pro830=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337422G>C | CA474429542 | MYBPC3 | c.2571C>G (p.Pro857=) c.*76C>G (n.*76C>G) c.2553C>G (p.Pro851=) c.2490C>G (p.Pro830=) | |
| 11 | g.47337422G>T | CA474429541 | MYBPC3 | c.2571C>A (p.Pro857=) c.*76C>A (n.*76C>A) c.2553C>A (p.Pro851=) c.2490C>A (p.Pro830=) | gnomAD v4 |
| 11 | g.47337422_47337433delinsGGGCCTGGACAT | CA1969339692 | MYBPC3 | c.2560_2571delinsATGTCCAGGCCC (p.Met854=) c.*65_*76delinsATGTCCAGGCCC (n.*65_*76delinsATGTCCAGGCCC) c.2542_2553delinsATGTCCAGGCCC (p.Met848=) c.2479_2490delinsATGTCCAGGCCC (p.Met827=) | |
| 11 | g.47337423G>A | CA078823 | MYBPC3 | c.2570C>T (p.Pro857Leu) c.*75C>T (n.*75C>T) c.2552C>T (p.Pro851Leu) c.2489C>T (p.Pro830Leu) | dbSNP ExAC gnomAD v2 |
| 11 | g.47337423G>C | CA380318108 | MYBPC3 | c.2570C>G (p.Pro857Arg) c.*75C>G (n.*75C>G) c.2552C>G (p.Pro851Arg) c.2489C>G (p.Pro830Arg) | |
| 11 | g.47337423G= | CA1969339695 | MYBPC3 | c.2570C= (p.Pro857=) c.*75C= (n.*75C=) c.2552C= (p.Pro851=) c.2489C= (p.Pro830=) | |
| 11 | g.47337423G>T | CA380318110 | MYBPC3 | c.2570C>A (p.Pro857His) c.*75C>A (n.*75C>A) c.2552C>A (p.Pro851His) c.2489C>A (p.Pro830His) | |
| 11 | g.47337425_47337429del | CA2695212749 | MYBPC3 | c.2566_2570del (p.Arg856GlnfsTer26) c.*71_*75del (n.*71_*75del) c.2548_2552del (p.Arg850GlnfsTer26) c.2485_2489del (p.Arg829GlnfsTer26) | |
| 11 | g.47337424_47337434del | CA937668548 | MYBPC3 | c.2560_2570del (p.Met854GlnfsTer26) c.*65_*75del (n.*65_*75del) c.2542_2552del (p.Met848GlnfsTer26) c.2479_2489del (p.Met827GlnfsTer26) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47337424G>A | CA050802 | MYBPC3 | c.2569C>T (p.Pro857Ser) c.*74C>T (n.*74C>T) c.2551C>T (p.Pro851Ser) c.2488C>T (p.Pro830Ser) | gnomAD v3 gnomAD v4 |
| 11 | g.47337424G>C | CA380318113 | MYBPC3 | c.2569C>G (p.Pro857Ala) c.*74C>G (n.*74C>G) c.2551C>G (p.Pro851Ala) c.2488C>G (p.Pro830Ala) | |
| 11 | g.47337424G= | CA1969339756 | MYBPC3 | c.2569C= (p.Pro857=) c.*74C= (n.*74C=) c.2551C= (p.Pro851=) c.2488C= (p.Pro830=) | |
| 11 | g.47337424G>T | CA380318115 | MYBPC3 | c.2569C>A (p.Pro857Thr) c.*74C>A (n.*74C>A) c.2551C>A (p.Pro851Thr) c.2488C>A (p.Pro830Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47337424_47337425delinsGC | CA1969339753 | MYBPC3 | c.2568_2569delinsGC (p.Arg856=) c.*73_*74delinsGC (n.*73_*74delinsGC) c.2550_2551delinsGC (p.Arg850=) c.2487_2488delinsGC (p.Arg829=) | |
| 11 | g.47337425C>A | CA078820 | MYBPC3 | c.2568G>T (p.Arg856Ser) c.*73G>T (n.*73G>T) c.2550G>T (p.Arg850Ser) c.2487G>T (p.Arg829Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47337425C= | CA1969339768 | MYBPC3 | c.2568G= (p.Arg856=) c.*73G= (n.*73G=) c.2550G= (p.Arg850=) c.2487G= (p.Arg829=) | |
| 11 | g.47337425C>G | CA380318117 | MYBPC3 | c.2568G>C (p.Arg856Ser) c.*73G>C (n.*73G>C) c.2550G>C (p.Arg850Ser) c.2487G>C (p.Arg829Ser) | gnomAD v4 |
| 11 | g.47337425C>T | CA16605924 | MYBPC3 | c.2568G>A (p.Arg856=) c.*73G>A (n.*73G>A) c.2550G>A (p.Arg850=) c.2487G>A (p.Arg829=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337426del | CA658656137 | MYBPC3 | c.2568del (p.Arg856SerfsTer23) c.*73del (n.*73del) c.2550del (p.Arg850SerfsTer23) c.2487del (p.Arg829SerfsTer23) | ClinVar dbSNP |
| 11 | g.47337426C>A | CA380318118 | MYBPC3 | c.2567G>T (p.Arg856Met) c.*72G>T (n.*72G>T) c.2549G>T (p.Arg850Met) c.2486G>T (p.Arg829Met) | |
| 11 | g.47337426C>G | CA380318119 | MYBPC3 | c.2567G>C (p.Arg856Thr) c.*72G>C (n.*72G>C) c.2549G>C (p.Arg850Thr) c.2486G>C (p.Arg829Thr) | |
| 11 | g.47337426C>T | CA380318120 | MYBPC3 | c.2567G>A (p.Arg856Lys) c.*72G>A (n.*72G>A) c.2549G>A (p.Arg850Lys) c.2486G>A (p.Arg829Lys) | |
| 11 | g.47337427T>A | CA380318121 | MYBPC3 | c.2566A>T (p.Arg856Trp) c.*71A>T (n.*71A>T) c.2548A>T (p.Arg850Trp) c.2485A>T (p.Arg829Trp) | |
| 11 | g.47337427T>C | CA380318122 | MYBPC3 | c.2566A>G (p.Arg856Gly) c.*71A>G (n.*71A>G) c.2548A>G (p.Arg850Gly) c.2485A>G (p.Arg829Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47337427T>G | CA474429544 | MYBPC3 | c.2566A>C (p.Arg856=) c.*71A>C (n.*71A>C) c.2548A>C (p.Arg850=) c.2485A>C (p.Arg829=) | |
| 11 | g.47337427T= | CA1969339773 | MYBPC3 | c.2566A= (p.Arg856=) c.*71A= (n.*71A=) c.2548A= (p.Arg850=) c.2485A= (p.Arg829=) | |
| 11 | g.47337428G>A | CA474429546 | MYBPC3 | c.2565C>T (p.Ser855=) c.*70C>T (n.*70C>T) c.2547C>T (p.Ser849=) c.2484C>T (p.Ser828=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.47337428G>C | CA078818 | MYBPC3 | c.2565C>G (p.Ser855=) c.*70C>G (n.*70C>G) c.2547C>G (p.Ser849=) c.2484C>G (p.Ser828=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47337428G= | CA1969339778 | MYBPC3 | c.2565C= (p.Ser855=) c.*70C= (n.*70C=) c.2547C= (p.Ser849=) c.2484C= (p.Ser828=) | |
| 11 | g.47337428G>T | CA474429548 | MYBPC3 | c.2565C>A (p.Ser855=) c.*70C>A (n.*70C>A) c.2547C>A (p.Ser849=) c.2484C>A (p.Ser828=) | gnomAD v4 |
| 11 | g.47337429G>A | CA380318125 | MYBPC3 | c.2564C>T (p.Ser855Phe) c.*69C>T (n.*69C>T) c.2546C>T (p.Ser849Phe) c.2483C>T (p.Ser828Phe) | gnomAD v4 |
| 11 | g.47337429G>C | CA380318124 | MYBPC3 | c.2564C>G (p.Ser855Cys) c.*69C>G (n.*69C>G) c.2546C>G (p.Ser849Cys) c.2483C>G (p.Ser828Cys) | |
| 11 | g.47337429G>T | CA380318123 | MYBPC3 | c.2564C>A (p.Ser855Tyr) c.*69C>A (n.*69C>A) c.2546C>A (p.Ser849Tyr) c.2483C>A (p.Ser828Tyr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337430A>C | CA380318126 | MYBPC3 | c.2563T>G (p.Ser855Ala) c.*68T>G (n.*68T>G) c.2545T>G (p.Ser849Ala) c.2482T>G (p.Ser828Ala) | |
| 11 | g.47337430A>G | CA380318127 | MYBPC3 | c.2563T>C (p.Ser855Pro) c.*68T>C (n.*68T>C) c.2545T>C (p.Ser849Pro) c.2482T>C (p.Ser828Pro) | |
| 11 | g.47337430A>T | CA380318128 | MYBPC3 | c.2563T>A (p.Ser855Thr) c.*68T>A (n.*68T>A) c.2545T>A (p.Ser849Thr) c.2482T>A (p.Ser828Thr) | |
| 11 | g.47337431C>A | CA050826 | MYBPC3 | c.2562G>T (p.Met854Ile) c.*67G>T (n.*67G>T) c.2544G>T (p.Met848Ile) c.2481G>T (p.Met827Ile) | gnomAD v4 |
| 11 | g.47337431C= | CA1969339783 | MYBPC3 | c.2562G= (p.Met854=) c.*67G= (n.*67G=) c.2544G= (p.Met848=) c.2481G= (p.Met827=) | |
| 11 | g.47337431C>G | CA050818 | MYBPC3 | c.2562G>C (p.Met854Ile) c.*67G>C (n.*67G>C) c.2544G>C (p.Met848Ile) c.2481G>C (p.Met827Ile) | |
| 11 | g.47337431C>T | CA012658 | MYBPC3 | c.2562G>A (p.Met854Ile) c.*67G>A (n.*67G>A) c.2544G>A (p.Met848Ile) c.2481G>A (p.Met827Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337432A>C | CA380318131 | MYBPC3 | c.2561T>G (p.Met854Arg) c.*66T>G (n.*66T>G) c.2543T>G (p.Met848Arg) c.2480T>G (p.Met827Arg) | |
| 11 | g.47337432A>G | CA380318129 | MYBPC3 | c.2561T>C (p.Met854Thr) c.*66T>C (n.*66T>C) c.2543T>C (p.Met848Thr) c.2480T>C (p.Met827Thr) | |
| 11 | g.47337432A>T | CA380318130 | MYBPC3 | c.2561T>A (p.Met854Lys) c.*66T>A (n.*66T>A) c.2543T>A (p.Met848Lys) c.2480T>A (p.Met827Lys) | |
| 11 | g.47337433T>A | CA078815 | MYBPC3 | c.2560A>T (p.Met854Leu) c.*65A>T (n.*65A>T) c.2542A>T (p.Met848Leu) c.2479A>T (p.Met827Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47337433T>C | CA012649 | MYBPC3 | c.2560A>G (p.Met854Val) c.*65A>G (n.*65A>G) c.2542A>G (p.Met848Val) c.2479A>G (p.Met827Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337433T>G | CA380318132 | MYBPC3 | c.2560A>C (p.Met854Leu) c.*65A>C (n.*65A>C) c.2542A>C (p.Met848Leu) c.2479A>C (p.Met827Leu) | |
| 11 | g.47337433T= | CA1969339795 | MYBPC3 | c.2560A= (p.Met854=) c.*65A= (n.*65A=) c.2542A= (p.Met848=) c.2479A= (p.Met827=) | |
| 11 | g.47337433_47337445delinsCGCC | CA2695212750 | MYBPC3 | c.2548_2560delinsGGCG (p.Asn850_Met854delinsGlyVal) c.*53_*65delinsGGCG (n.*53_*65delinsGGCG) c.2530_2542delinsGGCG (p.Asn844_Met848delinsGlyVal) c.2467_2479delinsGGCG (p.Asn823_Met827delinsGlyVal) | |
| 11 | g.47337434G>A | CA474429551 | MYBPC3 | c.2559C>T (p.Gly853=) c.*64C>T (n.*64C>T) c.2541C>T (p.Gly847=) c.2478C>T (p.Gly826=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337434G>C | CA474429552 | MYBPC3 | c.2559C>G (p.Gly853=) c.*64C>G (n.*64C>G) c.2541C>G (p.Gly847=) c.2478C>G (p.Gly826=) | |
| 11 | g.47337434G>T | CA474429553 | MYBPC3 | c.2559C>A (p.Gly853=) c.*64C>A (n.*64C>A) c.2541C>A (p.Gly847=) c.2478C>A (p.Gly826=) | |
| 11 | g.47337434_47337435delinsGC | CA1969339801 | MYBPC3 | c.2558_2559delinsGC (p.Gly853=) c.*63_*64delinsGC (n.*63_*64delinsGC) c.2540_2541delinsGC (p.Gly847=) c.2477_2478delinsGC (p.Gly826=) | |
| 11 | g.47337435C>A | CA380318133 | MYBPC3 | c.2558G>T (p.Gly853Val) c.*63G>T (n.*63G>T) c.2540G>T (p.Gly847Val) c.2477G>T (p.Gly826Val) | |
| 11 | g.47337435C>G | CA380318134 | MYBPC3 | c.2558G>C (p.Gly853Ala) c.*63G>C (n.*63G>C) c.2540G>C (p.Gly847Ala) c.2477G>C (p.Gly826Ala) | |
| 11 | g.47337435C>T | CA380318135 | MYBPC3 | c.2558G>A (p.Gly853Asp) c.*63G>A (n.*63G>A) c.2540G>A (p.Gly847Asp) c.2477G>A (p.Gly826Asp) | |
| 11 | g.47337436del | CA012641 | MYBPC3 | c.2558del (p.Gly853AlafsTer26) c.*63del (n.*63del) c.2540del (p.Gly847AlafsTer26) c.2477del (p.Gly826AlafsTer26) | ClinVar dbSNP |
| 11 | g.47337435_47337437delinsCCG | CA1969339812 | MYBPC3 | c.2556_2558delinsCGG (p.Ile852=) c.*61_*63delinsCGG (n.*61_*63delinsCGG) c.2538_2540delinsCGG (p.Ile846=) c.2475_2477delinsCGG (p.Ile825=) | |
| 11 | g.47337436C>A | CA050572 | MYBPC3 | c.2557G>T (p.Gly853Cys) c.*62G>T (n.*62G>T) c.2539G>T (p.Gly847Cys) c.2476G>T (p.Gly826Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47337436C= | CA1969339821 | MYBPC3 | c.2557G= (p.Gly853=) c.*62G= (n.*62G=) c.2539G= (p.Gly847=) c.2476G= (p.Gly826=) | |
| 11 | g.47337436C>G | CA380318136 | MYBPC3 | c.2557G>C (p.Gly853Arg) c.*62G>C (n.*62G>C) c.2539G>C (p.Gly847Arg) c.2476G>C (p.Gly826Arg) | gnomAD v4 |
| 11 | g.47337436C>T | CA012636 | MYBPC3 | c.2557G>A (p.Gly853Ser) c.*62G>A (n.*62G>A) c.2539G>A (p.Gly847Ser) c.2476G>A (p.Gly826Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337436_47337437delinsCG | CA1969339826 | MYBPC3 | c.2556_2557delinsCG (p.Ile852=) c.*61_*62delinsCG (n.*61_*62delinsCG) c.2538_2539delinsCG (p.Ile846=) c.2475_2476delinsCG (p.Ile825=) | |
| 11 | g.47337436_47337437delinsACA | CA2695212751 | MYBPC3 | c.2556_2557delinsTGT (p.Gly853ValfsTer?) c.*61_*62delinsTGT (n.*61_*62delinsTGT) c.2538_2539delinsTGT (p.Gly847ValfsTer?) c.2475_2476delinsTGT (p.Gly826ValfsTer?) | |
| 11 | g.47337436_47337437delinsAGA | CA012620 | MYBPC3 | c.2556_2557delinsTCT (p.Gly853LeufsTer?) c.*61_*62delinsTCT (n.*61_*62delinsTCT) c.2538_2539delinsTCT (p.Gly847LeufsTer?) c.2475_2476delinsTCT (p.Gly826LeufsTer?) | ClinVar dbSNP |
| 11 | g.47337436_47337440delinsCGATG | CA1969339827 | MYBPC3 | c.2553_2557delinsCATCG (p.Ala851=) c.*58_*62delinsCATCG (n.*58_*62delinsCATCG) c.2535_2539delinsCATCG (p.Ala845=) c.2472_2476delinsCATCG (p.Ala824=) | |
| 11 | g.47337437del | CA012627 | MYBPC3 | c.2556del (p.Ile852MetfsTer27) c.*61del (n.*61del) c.2538del (p.Ile846MetfsTer27) c.2475del (p.Ile825MetfsTer27) | ClinVar dbSNP |
| 11 | g.47337437G>A | CA078809 | MYBPC3 | c.2556C>T (p.Ile852=) c.*61C>T (n.*61C>T) c.2538C>T (p.Ile846=) c.2475C>T (p.Ile825=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47337437G>C | CA380318137 | MYBPC3 | c.2556C>G (p.Ile852Met) c.*61C>G (n.*61C>G) c.2538C>G (p.Ile846Met) c.2475C>G (p.Ile825Met) | |
| 11 | g.47337437G= | CA1969339837 | MYBPC3 | c.2556C= (p.Ile852=) c.*61C= (n.*61C=) c.2538C= (p.Ile846=) c.2475C= (p.Ile825=) | |
| 11 | g.47337437G>T | CA474429554 | MYBPC3 | c.2556C>A (p.Ile852=) c.*61C>A (n.*61C>A) c.2538C>A (p.Ile846=) c.2475C>A (p.Ile825=) | |
| 11 | g.47337438_47337441del | CA676994660 | MYBPC3 | c.2553_2556del (p.Ile852AlafsTer26) c.*58_*61del (n.*58_*61del) c.2535_2538del (p.Ile846AlafsTer26) c.2472_2475del (p.Ile825AlafsTer26) | dbSNP |
| 11 | g.47337438A>C | CA380318139 | MYBPC3 | c.2555T>G (p.Ile852Ser) c.*60T>G (n.*60T>G) c.2537T>G (p.Ile846Ser) c.2474T>G (p.Ile825Ser) | |
| 11 | g.47337438A>G | CA380318140 | MYBPC3 | c.2555T>C (p.Ile852Thr) c.*60T>C (n.*60T>C) c.2537T>C (p.Ile846Thr) c.2474T>C (p.Ile825Thr) | ClinVar dbSNP |
| 11 | g.47337438A>T | CA380318138 | MYBPC3 | c.2555T>A (p.Ile852Asn) c.*60T>A (n.*60T>A) c.2537T>A (p.Ile846Asn) c.2474T>A (p.Ile825Asn) | |
| 11 | g.47337438dup | CA5975364 | MYBPC3 | c.2555dup (p.Gly853ArgfsTer?) c.*60dup (n.*60dup) c.2537dup (p.Gly847ArgfsTer?) c.2474dup (p.Gly826ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47337439T>A | CA380318141 | MYBPC3 | c.2554A>T (p.Ile852Phe) c.*59A>T (n.*59A>T) c.2536A>T (p.Ile846Phe) c.2473A>T (p.Ile825Phe) | |
| 11 | g.47337439T>C | CA380318142 | MYBPC3 | c.2554A>G (p.Ile852Val) c.*59A>G (n.*59A>G) c.2536A>G (p.Ile846Val) c.2473A>G (p.Ile825Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47337439T>G | CA380318143 | MYBPC3 | c.2554A>C (p.Ile852Leu) c.*59A>C (n.*59A>C) c.2536A>C (p.Ile846Leu) c.2473A>C (p.Ile825Leu) | |
| 11 | g.47337439T= | CA1969339849 | MYBPC3 | c.2554A= (p.Ile852=) c.*59A= (n.*59A=) c.2536A= (p.Ile846=) c.2473A= (p.Ile825=) | |
| 11 | g.47337439_47337440insA | CA2695212752 | MYBPC3 | c.2553_2554insT (p.Ile852TyrfsTer?) c.*58_*59insT (n.*58_*59insT) c.2535_2536insT (p.Ile846TyrfsTer?) c.2472_2473insT (p.Ile825TyrfsTer?) | |
| 11 | g.47337440G>A | CA050537 | MYBPC3 | c.2553C>T (p.Ala851=) c.*58C>T (n.*58C>T) c.2535C>T (p.Ala845=) c.2472C>T (p.Ala824=) | dbSNP |
| 11 | g.47337440G>C | CA474429555 | MYBPC3 | c.2553C>G (p.Ala851=) c.*58C>G (n.*58C>G) c.2535C>G (p.Ala845=) c.2472C>G (p.Ala824=) | |
| 11 | g.47337440G= | CA1969339855 | MYBPC3 | c.2553C= (p.Ala851=) c.*58C= (n.*58C=) c.2535C= (p.Ala845=) c.2472C= (p.Ala824=) | |
| 11 | g.47337440G>T | CA474429556 | MYBPC3 | c.2553C>A (p.Ala851=) c.*58C>A (n.*58C>A) c.2535C>A (p.Ala845=) c.2472C>A (p.Ala824=) | |
| 11 | g.47337440_47337448dup | CA2613400913 | MYBPC3 | c.2545_2553dup (p.Ala851_Ile852insValAsnAla) c.*50_*58dup (n.*50_*58dup) c.2527_2535dup (p.Ala845_Ile846insValAsnAla) c.2464_2472dup (p.Ala824_Ile825insValAsnAla) | gnomAD v4 |
| 11 | g.47337441G>A | CA078807 | MYBPC3 | c.2552C>T (p.Ala851Val) c.*57C>T (n.*57C>T) c.2534C>T (p.Ala845Val) c.2471C>T (p.Ala824Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337441G>C | CA380318144 | MYBPC3 | c.2552C>G (p.Ala851Gly) c.*57C>G (n.*57C>G) c.2534C>G (p.Ala845Gly) c.2471C>G (p.Ala824Gly) | |
| 11 | g.47337441G= | CA1969339858 | MYBPC3 | c.2552C= (p.Ala851=) c.*57C= (n.*57C=) c.2534C= (p.Ala845=) c.2471C= (p.Ala824=) | |
| 11 | g.47337441G>T | CA380318145 | MYBPC3 | c.2552C>A (p.Ala851Asp) c.*57C>A (n.*57C>A) c.2534C>A (p.Ala845Asp) c.2471C>A (p.Ala824Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47337445_47337453dup | CA2739270431 | MYBPC3 | c.2544_2552dup (p.Ala851_Ile852insValAsnAla) c.*49_*57dup (n.*49_*57dup) c.2526_2534dup (p.Ala845_Ile846insValAsnAla) c.2463_2471dup (p.Ala824_Ile825insValAsnAla) | ClinVar |
| 11 | g.47337442C>A | CA380318146 | MYBPC3 | c.2551G>T (p.Ala851Ser) c.*56G>T (n.*56G>T) c.2533G>T (p.Ala845Ser) c.2470G>T (p.Ala824Ser) | |
| 11 | g.47337442C= | CA1969339862 | MYBPC3 | c.2551G= (p.Ala851=) c.*56G= (n.*56G=) c.2533G= (p.Ala845=) c.2470G= (p.Ala824=) | |
| 11 | g.47337442C>G | CA380318147 | MYBPC3 | c.2551G>C (p.Ala851Pro) c.*56G>C (n.*56G>C) c.2533G>C (p.Ala845Pro) c.2470G>C (p.Ala824Pro) | |
| 11 | g.47337442C>T | CA012612 | MYBPC3 | c.2551G>A (p.Ala851Thr) c.*56G>A (n.*56G>A) c.2533G>A (p.Ala845Thr) c.2470G>A (p.Ala824Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337442dup | CA2838688122 | MYBPC3 | c.2551dup (p.Ala851GlyfsTer?) c.*56dup (n.*56dup) c.2533dup (p.Ala845GlyfsTer?) c.2470dup (p.Ala824GlyfsTer?) | |
| 11 | g.47337442_47337443delinsCG | CA1969339864 | MYBPC3 | c.2550_2551delinsCG (p.Asn850=) c.*55_*56delinsCG (n.*55_*56delinsCG) c.2532_2533delinsCG (p.Asn844=) c.2469_2470delinsCG (p.Asn823=) | |
| 11 | g.47337443del | CA279283 | MYBPC3 | c.2550del (p.Asn850LysfsTer29) c.*55del (n.*55del) c.2532del (p.Asn844LysfsTer29) c.2469del (p.Asn823LysfsTer29) | ClinVar dbSNP |
| 11 | g.47337443G>A | CA474429557 | MYBPC3 | c.2550C>T (p.Asn850=) c.*55C>T (n.*55C>T) c.2532C>T (p.Asn844=) c.2469C>T (p.Asn823=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47337443G>C | CA380318148 | MYBPC3 | c.2550C>G (p.Asn850Lys) c.*55C>G (n.*55C>G) c.2532C>G (p.Asn844Lys) c.2469C>G (p.Asn823Lys) | ClinVar |
| 11 | g.47337443G= | CA1969339870 | MYBPC3 | c.2550C= (p.Asn850=) c.*55C= (n.*55C=) c.2532C= (p.Asn844=) c.2469C= (p.Asn823=) | |
| 11 | g.47337443G>T | CA380318149 | MYBPC3 | c.2550C>A (p.Asn850Lys) c.*55C>A (n.*55C>A) c.2532C>A (p.Asn844Lys) c.2469C>A (p.Asn823Lys) | |
| 11 | g.47337444_47337446del | CA2697548559 | MYBPC3 | c.2548_2550del (p.Asn850del) c.*53_*55del (n.*53_*55del) c.2530_2532del (p.Asn844del) c.2467_2469del (p.Asn823del) | ClinVar |
| 11 | g.47337443_47337448delinsATGA | CA2580084284 | MYBPC3 | c.2545_2550delinsTCAT (p.Val849SerfsTer?) c.*50_*55delinsTCAT (n.*50_*55delinsTCAT) c.2527_2532delinsTCAT (p.Val843SerfsTer?) c.2464_2469delinsTCAT (p.Val822SerfsTer?) | ClinVar |
| 11 | g.47337444T>A | CA012604 | MYBPC3 | c.2549A>T (p.Asn850Ile) c.*54A>T (n.*54A>T) c.2531A>T (p.Asn844Ile) c.2468A>T (p.Asn823Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47337444T>C | CA380318150 | MYBPC3 | c.2549A>G (p.Asn850Ser) c.*54A>G (n.*54A>G) c.2531A>G (p.Asn844Ser) c.2468A>G (p.Asn823Ser) | gnomAD v4 |
| 11 | g.47337444T>G | CA380318151 | MYBPC3 | c.2549A>C (p.Asn850Thr) c.*54A>C (n.*54A>C) c.2531A>C (p.Asn844Thr) c.2468A>C (p.Asn823Thr) | |
| 11 | g.47337444T= | CA1969339874 | MYBPC3 | c.2549A= (p.Asn850=) c.*54A= (n.*54A=) c.2531A= (p.Asn844=) c.2468A= (p.Asn823=) | |
| 11 | g.47337445T>A | CA380318152 | MYBPC3 | c.2548A>T (p.Asn850Tyr) c.*53A>T (n.*53A>T) c.2530A>T (p.Asn844Tyr) c.2467A>T (p.Asn823Tyr) | |
| 11 | g.47337445T>C | CA380318153 | MYBPC3 | c.2548A>G (p.Asn850Asp) c.*53A>G (n.*53A>G) c.2530A>G (p.Asn844Asp) c.2467A>G (p.Asn823Asp) | |
| 11 | g.47337445T>G | CA380318154 | MYBPC3 | c.2548A>C (p.Asn850His) c.*53A>C (n.*53A>C) c.2530A>C (p.Asn844His) c.2467A>C (p.Asn823His) | ClinVar dbSNP |
| 11 | g.47337446del | CA2613400957 | MYBPC3 | c.2547del (p.Asn850ThrfsTer29) c.*52del (n.*52del) c.2529del (p.Asn844ThrfsTer29) c.2466del (p.Asn823ThrfsTer29) | gnomAD v4 |
| 11 | g.47337446G>A | CA012598 | MYBPC3 | c.2547C>T (p.Val849=) c.*52C>T (n.*52C>T) c.2529C>T (p.Val843=) c.2466C>T (p.Val822=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337446G>C | CA474429559 | MYBPC3 | c.2547C>G (p.Val849=) c.*52C>G (n.*52C>G) c.2529C>G (p.Val843=) c.2466C>G (p.Val822=) | |
| 11 | g.47337446G= | CA1969339878 | MYBPC3 | c.2547C= (p.Val849=) c.*52C= (n.*52C=) c.2529C= (p.Val843=) c.2466C= (p.Val822=) | |
| 11 | g.47337446G>T | CA474429558 | MYBPC3 | c.2547C>A (p.Val849=) c.*52C>A (n.*52C>A) c.2529C>A (p.Val843=) c.2466C>A (p.Val822=) | |
| 11 | g.47337446_47337447delinsAC | CA891842472 | MYBPC3 | c.2546_2547delinsGT (p.Val849Gly) c.*51_*52delinsGT (n.*51_*52delinsGT) c.2528_2529delinsGT (p.Val843Gly) c.2465_2466delinsGT (p.Val822Gly) | ClinVar dbSNP |
| 11 | g.47337446_47337447delinsGA | CA1969339879 | MYBPC3 | c.2546_2547delinsTC (p.Val849=) c.*51_*52delinsTC (n.*51_*52delinsTC) c.2528_2529delinsTC (p.Val843=) c.2465_2466delinsTC (p.Val822=) | |
| 11 | g.47337447_47337450del | CA2613400963 | MYBPC3 | c.2544_2547del (p.Val849ThrfsTer29) c.*49_*52del (n.*49_*52del) c.2526_2529del (p.Val843ThrfsTer29) c.2463_2466del (p.Val822ThrfsTer29) | gnomAD v4 |
| 11 | g.47337446_47337453delinsA | CA915940853 | MYBPC3 | c.2540_2547delinsT (p.Tyr847LeufsTer30) c.*45_*52delinsT (n.*45_*52delinsT) c.2522_2529delinsT (p.Tyr841LeufsTer30) c.2459_2466delinsT (p.Tyr820LeufsTer30) | |
| 11 | g.47337447A= | CA1969339881 | MYBPC3 | c.2546T= (p.Val849=) c.*51T= (n.*51T=) c.2528T= (p.Val843=) c.2465T= (p.Val822=) | |
| 11 | g.47337447A>C | CA380318155 | MYBPC3 | c.2546T>G (p.Val849Gly) c.*51T>G (n.*51T>G) c.2528T>G (p.Val843Gly) c.2465T>G (p.Val822Gly) | |
| 11 | g.47337447A>G | CA078803 | MYBPC3 | c.2546T>C (p.Val849Ala) c.*51T>C (n.*51T>C) c.2528T>C (p.Val843Ala) c.2465T>C (p.Val822Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47337447A>T | CA380318156 | MYBPC3 | c.2546T>A (p.Val849Asp) c.*51T>A (n.*51T>A) c.2528T>A (p.Val843Asp) c.2465T>A (p.Val822Asp) | |
| 11 | g.47337448C>A | CA380318157 | MYBPC3 | c.2545G>T (p.Val849Phe) c.*50G>T (n.*50G>T) c.2527G>T (p.Val843Phe) c.2464G>T (p.Val822Phe) | |
| 11 | g.47337448C= | CA1969339883 | MYBPC3 | c.2545G= (p.Val849=) c.*50G= (n.*50G=) c.2527G= (p.Val843=) c.2464G= (p.Val822=) | |
| 11 | g.47337448C>G | CA380318158 | MYBPC3 | c.2545G>C (p.Val849Leu) c.*50G>C (n.*50G>C) c.2527G>C (p.Val843Leu) c.2464G>C (p.Val822Leu) | ClinVar dbSNP |
| 11 | g.47337448C>T | CA380318159 | MYBPC3 | c.2545G>A (p.Val849Ile) c.*50G>A (n.*50G>A) c.2527G>A (p.Val843Ile) c.2464G>A (p.Val822Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47337449del | CA2695212753 | MYBPC3 | c.2545del (p.Val849SerfsTer30) c.*50del (n.*50del) c.2527del (p.Val843SerfsTer30) c.2464del (p.Val822SerfsTer30) | |
| 11 | g.47337449C>A | CA474429560 | MYBPC3 | c.2544G>T (p.Ala848=) c.*49G>T (n.*49G>T) c.2526G>T (p.Ala842=) c.2463G>T (p.Ala821=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47337449C= | CA1969339885 | MYBPC3 | c.2544G= (p.Ala848=) c.*49G= (n.*49G=) c.2526G= (p.Ala842=) c.2463G= (p.Ala821=) | |
| 11 | g.47337449C>G | CA474429561 | MYBPC3 | c.2544G>C (p.Ala848=) c.*49G>C (n.*49G>C) c.2526G>C (p.Ala842=) c.2463G>C (p.Ala821=) | |
| 11 | g.47337449C>T | CA012593 | MYBPC3 | c.2544G>A (p.Ala848=) c.*49G>A (n.*49G>A) c.2526G>A (p.Ala842=) c.2463G>A (p.Ala821=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.47337449_47337450delinsCG | CA1969339887 | MYBPC3 | c.2543_2544delinsCG (p.Ala848=) c.*48_*49delinsCG (n.*48_*49delinsCG) c.2525_2526delinsCG (p.Ala842=) c.2462_2463delinsCG (p.Ala821=) | |
| 11 | g.47337451_47337452dup | CA913190269 | MYBPC3 | c.2543_2544dup (p.Val849ArgfsTer?) c.*48_*49dup (n.*48_*49dup) c.2525_2526dup (p.Val843ArgfsTer?) c.2462_2463dup (p.Val822ArgfsTer?) | ClinVar dbSNP |
| 11 | g.47337451_47337452del | CA2695212754 | MYBPC3 | c.2543_2544del (p.Ala848GlyfsTer?) c.*48_*49del (n.*48_*49del) c.2525_2526del (p.Ala842GlyfsTer?) c.2462_2463del (p.Ala821GlyfsTer?) | |
| 11 | g.47337450del | CA012582 | MYBPC3 | c.2543del (p.Ala848GlyfsTer?) c.*48del (n.*48del) c.2525del (p.Ala842GlyfsTer?) c.2462del (p.Ala821GlyfsTer?) | ClinVar dbSNP |
| 11 | g.47337450G>A | CA078799 | MYBPC3 | c.2543C>T (p.Ala848Val) c.*48C>T (n.*48C>T) c.2525C>T (p.Ala842Val) c.2462C>T (p.Ala821Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47337450G>C | CA012577 | MYBPC3 | c.2543C>G (p.Ala848Gly) c.*48C>G (n.*48C>G) c.2525C>G (p.Ala842Gly) c.2462C>G (p.Ala821Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47337450G= | CA1969339890 | MYBPC3 | c.2543C= (p.Ala848=) c.*48C= (n.*48C=) c.2525C= (p.Ala842=) c.2462C= (p.Ala821=) | |
| 11 | g.47337450G>T | CA349345 | MYBPC3 | c.2543C>A (p.Ala848Glu) c.*48C>A (n.*48C>A) c.2525C>A (p.Ala842Glu) c.2462C>A (p.Ala821Glu) | ClinVar dbSNP |
| 11 | g.47337450_47337451delinsCA | CA2573053508 | MYBPC3 | c.2542_2543delinsTG (p.Ala848Trp) c.*47_*48delinsTG (n.*47_*48delinsTG) c.2524_2525delinsTG (p.Ala842Trp) c.2461_2462delinsTG (p.Ala821Trp) | ClinVar dbSNP |
| 11 | g.47337451del | CA2695212755 | MYBPC3 | c.2542del (p.Ala848ArgfsTer?) c.*47del (n.*47del) c.2524del (p.Ala842ArgfsTer?) c.2461del (p.Ala821ArgfsTer?) | ClinVar |
| 11 | g.47337451C>A | CA380318161 | MYBPC3 | c.2542G>T (p.Ala848Ser) c.*47G>T (n.*47G>T) c.2524G>T (p.Ala842Ser) c.2461G>T (p.Ala821Ser) | ClinVar |
| 11 | g.47337451C= | CA1969339893 | MYBPC3 | c.2542G= (p.Ala848=) c.*47G= (n.*47G=) c.2524G= (p.Ala842=) c.2461G= (p.Ala821=) | |
| 11 | g.47337451C>G | CA380318160 | MYBPC3 | c.2542G>C (p.Ala848Pro) c.*47G>C (n.*47G>C) c.2524G>C (p.Ala842Pro) c.2461G>C (p.Ala821Pro) | ClinVar dbSNP |
| 11 | g.47337451C>T | CA078797 | MYBPC3 | c.2542G>A (p.Ala848Thr) c.*47G>A (n.*47G>A) c.2524G>A (p.Ala842Thr) c.2461G>A (p.Ala821Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47337452G>A | CA474429306 | MYBPC3 | c.2541C>T (p.Tyr847=) c.*46C>T (n.*46C>T) c.2523C>T (p.Tyr841=) c.2460C>T (p.Tyr820=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337452G>C | CA012567 | MYBPC3 | c.2541C>G (p.Tyr847Ter) c.*46C>G (n.*46C>G) c.2523C>G (p.Tyr841Ter) c.2460C>G (p.Tyr820Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337452G= | CA1969339896 | MYBPC3 | c.2541C= (p.Tyr847=) c.*46C= (n.*46C=) c.2523C= (p.Tyr841=) c.2460C= (p.Tyr820=) | |
| 11 | g.47337452G>T | CA012558 | MYBPC3 | c.2541C>A (p.Tyr847Ter) c.*46C>A (n.*46C>A) c.2523C>A (p.Tyr841Ter) c.2460C>A (p.Tyr820Ter) | ClinVar dbSNP |
| 11 | g.47337453T>A | CA380318162 | MYBPC3 | c.2540A>T (p.Tyr847Phe) c.*45A>T (n.*45A>T) c.2522A>T (p.Tyr841Phe) c.2459A>T (p.Tyr820Phe) | gnomAD v4 |
| 11 | g.47337453T>C | CA380318163 | MYBPC3 | c.2540A>G (p.Tyr847Cys) c.*45A>G (n.*45A>G) c.2522A>G (p.Tyr841Cys) c.2459A>G (p.Tyr820Cys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337453T>G | CA348478 | MYBPC3 | c.2540A>C (p.Tyr847Ser) c.*45A>C (n.*45A>C) c.2522A>C (p.Tyr841Ser) c.2459A>C (p.Tyr820Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337453T= | CA1969339899 | MYBPC3 | c.2540A= (p.Tyr847=) c.*45A= (n.*45A=) c.2522A= (p.Tyr841=) c.2459A= (p.Tyr820=) | |
| 11 | g.47337453_47337459del | CA2695212756 | MYBPC3 | c.2534_2540del (p.Arg845ProfsTer?) c.*39_*45del (n.*39_*45del) c.2516_2522del (p.Arg839ProfsTer?) c.2453_2459del (p.Arg818ProfsTer?) | |
| 11 | g.47337454A= | CA1969339902 | MYBPC3 | c.2539T= (p.Tyr847=) c.*44T= (n.*44T=) c.2521T= (p.Tyr841=) c.2458T= (p.Tyr820=) | |
| 11 | g.47337454A>C | CA380318164 | MYBPC3 | c.2539T>G (p.Tyr847Asp) c.*44T>G (n.*44T>G) c.2521T>G (p.Tyr841Asp) c.2458T>G (p.Tyr820Asp) | |
| 11 | g.47337454A>G | CA078794 | MYBPC3 | c.2539T>C (p.Tyr847His) c.*44T>C (n.*44T>C) c.2521T>C (p.Tyr841His) c.2458T>C (p.Tyr820His) | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.47337454A>T | CA380318165 | MYBPC3 | c.2539T>A (p.Tyr847Asn) c.*44T>A (n.*44T>A) c.2521T>A (p.Tyr841Asn) c.2458T>A (p.Tyr820Asn) | |
| 11 | g.47337454_47337459delinsAGACGC | CA1969339906 | MYBPC3 | c.2534_2539delinsGCGTCT (p.Arg845=) c.*39_*44delinsGCGTCT (n.*39_*44delinsGCGTCT) c.2516_2521delinsGCGTCT (p.Arg839=) c.2453_2458delinsGCGTCT (p.Arg818=) | |
| 11 | g.47337454_47337461delinsAGACGCGC | CA1969339904 | MYBPC3 | c.2532_2539delinsGCGCGTCT (p.Met844=) c.*37_*44delinsGCGCGTCT (n.*37_*44delinsGCGCGTCT) c.2514_2521delinsGCGCGTCT (p.Met838=) c.2451_2458delinsGCGCGTCT (p.Met817=) | |
| 11 | g.47337454_47337476delinsAGACGCGCATCTCGTACACCACG | CA1969339905 | MYBPC3 | c.2517_2539delinsCGTGGTGTACGAGATGCGCGTCT (p.Gly839=) c.*22_*44delinsCGTGGTGTACGAGATGCGCGTCT (n.*22_*44delinsCGTGGTGTACGAGATGCGCGTCT) c.2499_2521delinsCGTGGTGTACGAGATGCGCGTCT (p.Gly833=) c.2436_2458delinsCGTGGTGTACGAGATGCGCGTCT (p.Gly812=) | |
| 11 | g.47337455G>A | CA474429307 | MYBPC3 | c.2538C>T (p.Val846=) c.*43C>T (n.*43C>T) c.2520C>T (p.Val840=) c.2457C>T (p.Val819=) | |
| 11 | g.47337455G>C | CA078792 | MYBPC3 | c.2538C>G (p.Val846=) c.*43C>G (n.*43C>G) c.2520C>G (p.Val840=) c.2457C>G (p.Val819=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337455G= | CA1969339911 | MYBPC3 | c.2538C= (p.Val846=) c.*43C= (n.*43C=) c.2520C= (p.Val840=) c.2457C= (p.Val819=) | |
| 11 | g.47337455G>T | CA474429308 | MYBPC3 | c.2538C>A (p.Val846=) c.*43C>A (n.*43C>A) c.2520C>A (p.Val840=) c.2457C>A (p.Val819=) | gnomAD v4 |
| 11 | g.47337456_47337460del | CA012522 | MYBPC3 | c.2534_2538del (p.Arg845LeufsTer?) c.*39_*43del (n.*39_*43del) c.2516_2520del (p.Arg839LeufsTer?) c.2453_2457del (p.Arg818LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337455_47337461del | CA012500 | MYBPC3 | c.2532_2538del (p.Met844IlefsTer?) c.*37_*43del (n.*37_*43del) c.2514_2520del (p.Met838IlefsTer?) c.2451_2457del (p.Met817IlefsTer?) | ClinVar dbSNP |
| 11 | g.47337455_47337476del | CA012435 | MYBPC3 | c.2517_2538del (p.Val840ThrfsTer?) c.*22_*43del (n.*22_*43del) c.2499_2520del (p.Val834ThrfsTer?) c.2436_2457del (p.Val813ThrfsTer?) | ClinVar dbSNP |
| 11 | g.47337456A= | CA1969339918 | MYBPC3 | c.2537T= (p.Val846=) c.*42T= (n.*42T=) c.2519T= (p.Val840=) c.2456T= (p.Val819=) | |
| 11 | g.47337456A>C | CA380318166 | MYBPC3 | c.2537T>G (p.Val846Gly) c.*42T>G (n.*42T>G) c.2519T>G (p.Val840Gly) c.2456T>G (p.Val819Gly) | |
| 11 | g.47337456A>G | CA380318167 | MYBPC3 | c.2537T>C (p.Val846Ala) c.*42T>C (n.*42T>C) c.2519T>C (p.Val840Ala) c.2456T>C (p.Val819Ala) | gnomAD v4 |
| 11 | g.47337456A>T | CA012545 | MYBPC3 | c.2537T>A (p.Val846Asp) c.*42T>A (n.*42T>A) c.2519T>A (p.Val840Asp) c.2456T>A (p.Val819Asp) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337456_47337465delinsACGCGCATCT | CA1969339920 | MYBPC3 | c.2528_2537delinsAGATGCGCGT (p.Glu843=) c.*33_*42delinsAGATGCGCGT (n.*33_*42delinsAGATGCGCGT) c.2510_2519delinsAGATGCGCGT (p.Glu837=) c.2447_2456delinsAGATGCGCGT (p.Glu816=) | |
| 11 | g.47337457C>A | CA380318168 | MYBPC3 | c.2536G>T (p.Val846Phe) c.*41G>T (n.*41G>T) c.2518G>T (p.Val840Phe) c.2455G>T (p.Val819Phe) | dbSNP |
| 11 | g.47337457C= | CA1969339924 | MYBPC3 | c.2536G= (p.Val846=) c.*41G= (n.*41G=) c.2518G= (p.Val840=) c.2455G= (p.Val819=) | |
| 11 | g.47337457C>G | CA380318169 | MYBPC3 | c.2536G>C (p.Val846Leu) c.*41G>C (n.*41G>C) c.2518G>C (p.Val840Leu) c.2455G>C (p.Val819Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337457C>T | CA078789 | MYBPC3 | c.2536G>A (p.Val846Ile) c.*41G>A (n.*41G>A) c.2518G>A (p.Val840Ile) c.2455G>A (p.Val819Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337459_47337467del | CA012493 | MYBPC3 | c.2528_2536del (p.Glu843_Arg845del) c.*33_*41del (n.*33_*41del) c.2510_2518del (p.Glu837_Arg839del) c.2447_2455del (p.Glu816_Arg818del) | ClinVar dbSNP |
| 11 | g.47337458G>A | CA474429309 | MYBPC3 | c.2535C>T (p.Arg845=) c.*40C>T (n.*40C>T) c.2517C>T (p.Arg839=) c.2454C>T (p.Arg818=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47337458G>C | CA050376 | MYBPC3 | c.2535C>G (p.Arg845=) c.*40C>G (n.*40C>G) c.2517C>G (p.Arg839=) c.2454C>G (p.Arg818=) | dbSNP gnomAD v4 |
| 11 | g.47337458G= | CA1969339930 | MYBPC3 | c.2535C= (p.Arg845=) c.*40C= (n.*40C=) c.2517C= (p.Arg839=) c.2454C= (p.Arg818=) | |
| 11 | g.47337458G>T | CA474429310 | MYBPC3 | c.2535C>A (p.Arg845=) c.*40C>A (n.*40C>A) c.2517C>A (p.Arg839=) c.2454C>A (p.Arg818=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337459C>A | CA380318170 | MYBPC3 | c.2534G>T (p.Arg845Leu) c.*39G>T (n.*39G>T) c.2516G>T (p.Arg839Leu) c.2453G>T (p.Arg818Leu) | ClinVar |
| 11 | g.47337459C= | CA1969339938 | MYBPC3 | c.2534G= (p.Arg845=) c.*39G= (n.*39G=) c.2516G= (p.Arg839=) c.2453G= (p.Arg818=) | |
| 11 | g.47337459C>G | CA012536 | MYBPC3 | c.2534G>C (p.Arg845Pro) c.*39G>C (n.*39G>C) c.2516G>C (p.Arg839Pro) c.2453G>C (p.Arg818Pro) | ClinVar dbSNP |
| 11 | g.47337459C>T | CA012528 | MYBPC3 | c.2534G>A (p.Arg845His) c.*39G>A (n.*39G>A) c.2516G>A (p.Arg839His) c.2453G>A (p.Arg818His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337460G>A | CA012513 | MYBPC3 | c.2533C>T (p.Arg845Cys) c.*38C>T (n.*38C>T) c.2515C>T (p.Arg839Cys) c.2452C>T (p.Arg818Cys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337460G>C | CA012504 | MYBPC3 | c.2533C>G (p.Arg845Gly) c.*38C>G (n.*38C>G) c.2515C>G (p.Arg839Gly) c.2452C>G (p.Arg818Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337460G= | CA1969339947 | MYBPC3 | c.2533C= (p.Arg845=) c.*38C= (n.*38C=) c.2515C= (p.Arg839=) c.2452C= (p.Arg818=) | |
| 11 | g.47337460G>T | CA380318171 | MYBPC3 | c.2533C>A (p.Arg845Ser) c.*38C>A (n.*38C>A) c.2515C>A (p.Arg839Ser) c.2452C>A (p.Arg818Ser) | ClinVar dbSNP |
| 11 | g.47337461C>A | CA380318174 | MYBPC3 | c.2532G>T (p.Met844Ile) c.*37G>T (n.*37G>T) c.2514G>T (p.Met838Ile) c.2451G>T (p.Met817Ile) | |
| 11 | g.47337461C>G | CA380318173 | MYBPC3 | c.2532G>C (p.Met844Ile) c.*37G>C (n.*37G>C) c.2514G>C (p.Met838Ile) c.2451G>C (p.Met817Ile) | |
| 11 | g.47337461C>T | CA380318172 | MYBPC3 | c.2532G>A (p.Met844Ile) c.*37G>A (n.*37G>A) c.2514G>A (p.Met838Ile) c.2451G>A (p.Met817Ile) | gnomAD v4 |
| 11 | g.47337462A= | CA1969339955 | MYBPC3 | c.2531T= (p.Met844=) c.*36T= (n.*36T=) c.2513T= (p.Met838=) c.2450T= (p.Met817=) | |
| 11 | g.47337462A>C | CA380318177 | MYBPC3 | c.2531T>G (p.Met844Arg) c.*36T>G (n.*36T>G) c.2513T>G (p.Met838Arg) c.2450T>G (p.Met817Arg) | |
| 11 | g.47337462A>G | CA380318175 | MYBPC3 | c.2531T>C (p.Met844Thr) c.*36T>C (n.*36T>C) c.2513T>C (p.Met838Thr) c.2450T>C (p.Met817Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47337462A>T | CA380318176 | MYBPC3 | c.2531T>A (p.Met844Lys) c.*36T>A (n.*36T>A) c.2513T>A (p.Met838Lys) c.2450T>A (p.Met817Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47337463T>A | CA380318178 | MYBPC3 | c.2530A>T (p.Met844Leu) c.*35A>T (n.*35A>T) c.2512A>T (p.Met838Leu) c.2449A>T (p.Met817Leu) | ClinVar dbSNP |
| 11 | g.47337463T>C | CA380318179 | MYBPC3 | c.2530A>G (p.Met844Val) c.*35A>G (n.*35A>G) c.2512A>G (p.Met838Val) c.2449A>G (p.Met817Val) | gnomAD v4 |
| 11 | g.47337463T>G | CA380318180 | MYBPC3 | c.2530A>C (p.Met844Leu) c.*35A>C (n.*35A>C) c.2512A>C (p.Met838Leu) c.2449A>C (p.Met817Leu) | |
| 11 | g.47337465_47337466dup | CA2695212757 | MYBPC3 | c.2529_2530dup (p.Met844ArgfsTer?) c.*34_*35dup (n.*34_*35dup) c.2511_2512dup (p.Met838ArgfsTer?) c.2448_2449dup (p.Met817ArgfsTer?) | |
| 11 | g.47337464C>A | CA380318181 | MYBPC3 | c.2529G>T (p.Glu843Asp) c.*34G>T (n.*34G>T) c.2511G>T (p.Glu837Asp) c.2448G>T (p.Glu816Asp) | |
| 11 | g.47337464C= | CA1969339960 | MYBPC3 | c.2529G= (p.Glu843=) c.*34G= (n.*34G=) c.2511G= (p.Glu837=) c.2448G= (p.Glu816=) | |
| 11 | g.47337464C>G | CA380318182 | MYBPC3 | c.2529G>C (p.Glu843Asp) c.*34G>C (n.*34G>C) c.2511G>C (p.Glu837Asp) c.2448G>C (p.Glu816Asp) | ClinVar |
| 11 | g.47337464C>T | CA474429311 | MYBPC3 | c.2529G>A (p.Glu843=) c.*34G>A (n.*34G>A) c.2511G>A (p.Glu837=) c.2448G>A (p.Glu816=) | dbSNP gnomAD v4 |
| 11 | g.47337465T>A | CA380318183 | MYBPC3 | c.2528A>T (p.Glu843Val) c.*33A>T (n.*33A>T) c.2510A>T (p.Glu837Val) c.2447A>T (p.Glu816Val) | dbSNP |
| 11 | g.47337465T>C | CA380318184 | MYBPC3 | c.2528A>G (p.Glu843Gly) c.*33A>G (n.*33A>G) c.2510A>G (p.Glu837Gly) c.2447A>G (p.Glu816Gly) | gnomAD v4 |
| 11 | g.47337465T>G | CA380318185 | MYBPC3 | c.2528A>C (p.Glu843Ala) c.*33A>C (n.*33A>C) c.2510A>C (p.Glu837Ala) c.2447A>C (p.Glu816Ala) | |
| 11 | g.47337465T= | CA1969339964 | MYBPC3 | c.2528A= (p.Glu843=) c.*33A= (n.*33A=) c.2510A= (p.Glu837=) c.2447A= (p.Glu816=) | |
| 11 | g.47337466C>A | CA380318186 | MYBPC3 | c.2527G>T (p.Glu843Ter) c.*32G>T (n.*32G>T) c.2509G>T (p.Glu837Ter) c.2446G>T (p.Glu816Ter) | dbSNP |
| 11 | g.47337466C= | CA1969339968 | MYBPC3 | c.2527G= (p.Glu843=) c.*32G= (n.*32G=) c.2509G= (p.Glu837=) c.2446G= (p.Glu816=) | |
| 11 | g.47337466C>G | CA380318187 | MYBPC3 | c.2527G>C (p.Glu843Gln) c.*32G>C (n.*32G>C) c.2509G>C (p.Glu837Gln) c.2446G>C (p.Glu816Gln) | ClinVar |
| 11 | g.47337466C>T | CA012486 | MYBPC3 | c.2527G>A (p.Glu843Lys) c.*32G>A (n.*32G>A) c.2509G>A (p.Glu837Lys) c.2446G>A (p.Glu816Lys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337466_47337467delinsCG | CA1969339972 | MYBPC3 | c.2526_2527delinsCG (p.Tyr842=) c.*31_*32delinsCG (n.*31_*32delinsCG) c.2508_2509delinsCG (p.Tyr836=) c.2445_2446delinsCG (p.Tyr815=) | |
| 11 | g.47337467del | CA915948147 | MYBPC3 | c.2526del (p.Tyr842Ter) c.*31del (n.*31del) c.2508del (p.Tyr836Ter) c.2445del (p.Tyr815Ter) | ClinVar dbSNP |
| 11 | g.47337467G>A | CA078782 | MYBPC3 | c.2526C>T (p.Tyr842=) c.*31C>T (n.*31C>T) c.2508C>T (p.Tyr836=) c.2445C>T (p.Tyr815=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337467G>C | CA380318188 | MYBPC3 | c.2526C>G (p.Tyr842Ter) c.*31C>G (n.*31C>G) c.2508C>G (p.Tyr836Ter) c.2445C>G (p.Tyr815Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337467G= | CA1969339988 | MYBPC3 | c.2526C= (p.Tyr842=) c.*31C= (n.*31C=) c.2508C= (p.Tyr836=) c.2445C= (p.Tyr815=) | |
| 11 | g.47337467G>T | CA380318189 | MYBPC3 | c.2526C>A (p.Tyr842Ter) c.*31C>A (n.*31C>A) c.2508C>A (p.Tyr836Ter) c.2445C>A (p.Tyr815Ter) | ClinVar dbSNP |
| 11 | g.47337468T>A | CA380318190 | MYBPC3 | c.2525A>T (p.Tyr842Phe) c.*30A>T (n.*30A>T) c.2507A>T (p.Tyr836Phe) c.2444A>T (p.Tyr815Phe) | |
| 11 | g.47337468T>C | CA012476 | MYBPC3 | c.2525A>G (p.Tyr842Cys) c.*30A>G (n.*30A>G) c.2507A>G (p.Tyr836Cys) c.2444A>G (p.Tyr815Cys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337468T>G | CA380318191 | MYBPC3 | c.2525A>C (p.Tyr842Ser) c.*30A>C (n.*30A>C) c.2507A>C (p.Tyr836Ser) c.2444A>C (p.Tyr815Ser) | |
| 11 | g.47337468T= | CA1969339997 | MYBPC3 | c.2525A= (p.Tyr842=) c.*30A= (n.*30A=) c.2507A= (p.Tyr836=) c.2444A= (p.Tyr815=) | |
| 11 | g.47337469A= | CA1969340011 | MYBPC3 | c.2524T= (p.Tyr842=) c.*29T= (n.*29T=) c.2506T= (p.Tyr836=) c.2443T= (p.Tyr815=) | |
| 11 | g.47337469A>C | CA380318192 | MYBPC3 | c.2524T>G (p.Tyr842Asp) c.*29T>G (n.*29T>G) c.2506T>G (p.Tyr836Asp) c.2443T>G (p.Tyr815Asp) | |
| 11 | g.47337469A>G | CA380318193 | MYBPC3 | c.2524T>C (p.Tyr842His) c.*29T>C (n.*29T>C) c.2506T>C (p.Tyr836His) c.2443T>C (p.Tyr815His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47337469A>T | CA380318194 | MYBPC3 | c.2524T>A (p.Tyr842Asn) c.*29T>A (n.*29T>A) c.2506T>A (p.Tyr836Asn) c.2443T>A (p.Tyr815Asn) | |
| 11 | g.47337469dup | CA012465 | MYBPC3 | c.2524dup (p.Tyr842LeufsTer?) c.*29dup (n.*29dup) c.2506dup (p.Tyr836LeufsTer?) c.2443dup (p.Tyr815LeufsTer?) | ClinVar dbSNP |
| 11 | g.47337470C>A | CA474429312 | MYBPC3 | c.2523G>T (p.Val841=) c.*28G>T (n.*28G>T) c.2505G>T (p.Val835=) c.2442G>T (p.Val814=) | |
| 11 | g.47337470C>G | CA474429313 | MYBPC3 | c.2523G>C (p.Val841=) c.*28G>C (n.*28G>C) c.2505G>C (p.Val835=) c.2442G>C (p.Val814=) | |
| 11 | g.47337470C>T | CA474429314 | MYBPC3 | c.2523G>A (p.Val841=) c.*28G>A (n.*28G>A) c.2505G>A (p.Val835=) c.2442G>A (p.Val814=) | ClinVar |
| 11 | g.47337473_47337475del | CA2613401208 | MYBPC3 | c.2521_2523del (p.Val841del) c.*26_*28del (n.*26_*28del) c.2503_2505del (p.Val835del) c.2440_2442del (p.Val814del) | gnomAD v4 |
| 11 | g.47337471A= | CA1969340014 | MYBPC3 | c.2522T= (p.Val841=) c.*27T= (n.*27T=) c.2504T= (p.Val835=) c.2441T= (p.Val814=) | |
| 11 | g.47337471A>C | CA380318195 | MYBPC3 | c.2522T>G (p.Val841Gly) c.*27T>G (n.*27T>G) c.2504T>G (p.Val835Gly) c.2441T>G (p.Val814Gly) | |
| 11 | g.47337471A>G | CA221688459 | MYBPC3 | c.2522T>C (p.Val841Ala) c.*27T>C (n.*27T>C) c.2504T>C (p.Val835Ala) c.2441T>C (p.Val814Ala) | dbSNP gnomAD v4 |
| 11 | g.47337471A>T | CA380318196 | MYBPC3 | c.2522T>A (p.Val841Glu) c.*27T>A (n.*27T>A) c.2504T>A (p.Val835Glu) c.2441T>A (p.Val814Glu) | |
| 11 | g.47337472C>A | CA380318197 | MYBPC3 | c.2521G>T (p.Val841Leu) c.*26G>T (n.*26G>T) c.2503G>T (p.Val835Leu) c.2440G>T (p.Val814Leu) | |
| 11 | g.47337472C>G | CA380318198 | MYBPC3 | c.2521G>C (p.Val841Leu) c.*26G>C (n.*26G>C) c.2503G>C (p.Val835Leu) c.2440G>C (p.Val814Leu) | |
| 11 | g.47337472C>T | CA380318199 | MYBPC3 | c.2521G>A (p.Val841Met) c.*26G>A (n.*26G>A) c.2503G>A (p.Val835Met) c.2440G>A (p.Val814Met) | gnomAD v4 |
| 11 | g.47337473del | CA2695212758 | MYBPC3 | c.2521del (p.Val841CysfsTer?) c.*26del (n.*26del) c.2503del (p.Val835CysfsTer?) c.2440del (p.Val814CysfsTer?) | |
| 11 | g.47337472_47337474delinsTG | CA2573331896 | MYBPC3 | c.2519_2521delinsCA (p.Val840AlafsTer?) c.*24_*26delinsCA (n.*24_*26delinsCA) c.2501_2503delinsCA (p.Val834AlafsTer?) c.2438_2440delinsCA (p.Val813AlafsTer?) | ClinVar |
| 11 | g.47337473C>A | CA474429315 | MYBPC3 | c.2520G>T (p.Val840=) c.*25G>T (n.*25G>T) c.2502G>T (p.Val834=) c.2439G>T (p.Val813=) | |
| 11 | g.47337473C>G | CA474429316 | MYBPC3 | c.2520G>C (p.Val840=) c.*25G>C (n.*25G>C) c.2502G>C (p.Val834=) c.2439G>C (p.Val813=) | |
| 11 | g.47337473C>T | CA474429317 | MYBPC3 | c.2520G>A (p.Val840=) c.*25G>A (n.*25G>A) c.2502G>A (p.Val834=) c.2439G>A (p.Val813=) | |
| 11 | g.47337474A>C | CA380318201 | MYBPC3 | c.2519T>G (p.Val840Gly) c.*24T>G (n.*24T>G) c.2501T>G (p.Val834Gly) c.2438T>G (p.Val813Gly) | |
| 11 | g.47337474A>G | CA380318202 | MYBPC3 | c.2519T>C (p.Val840Ala) c.*24T>C (n.*24T>C) c.2501T>C (p.Val834Ala) c.2438T>C (p.Val813Ala) | |
| 11 | g.47337474A>T | CA380318200 | MYBPC3 | c.2519T>A (p.Val840Glu) c.*24T>A (n.*24T>A) c.2501T>A (p.Val834Glu) c.2438T>A (p.Val813Glu) | |
| 11 | g.47337474_47337475insTG | CA2613401246 | MYBPC3 | c.2518_2519insCA (p.Val840AlafsTer?) c.*23_*24insCA (n.*23_*24insCA) c.2500_2501insCA (p.Val834AlafsTer?) c.2437_2438insCA (p.Val813AlafsTer?) | gnomAD v4 |
| 11 | g.47337475C>A | CA380318203 | MYBPC3 | c.2518G>T (p.Val840Leu) c.*23G>T (n.*23G>T) c.2500G>T (p.Val834Leu) c.2437G>T (p.Val813Leu) | gnomAD v4 |
| 11 | g.47337475C= | CA1969340023 | MYBPC3 | c.2518G= (p.Val840=) c.*23G= (n.*23G=) c.2500G= (p.Val834=) c.2437G= (p.Val813=) | |
| 11 | g.47337475C>G | CA380318204 | MYBPC3 | c.2518G>C (p.Val840Leu) c.*23G>C (n.*23G>C) c.2500G>C (p.Val834Leu) c.2437G>C (p.Val813Leu) | |
| 11 | g.47337475C>T | CA012456 | MYBPC3 | c.2518G>A (p.Val840Met) c.*23G>A (n.*23G>A) c.2500G>A (p.Val834Met) c.2437G>A (p.Val813Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.47337476G>A | CA012448 | MYBPC3 | c.2517C>T (p.Gly839=) c.*22C>T (n.*22C>T) c.2499C>T (p.Gly833=) c.2436C>T (p.Gly812=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337476G>C | CA474429318 | MYBPC3 | c.2517C>G (p.Gly839=) c.*22C>G (n.*22C>G) c.2499C>G (p.Gly833=) c.2436C>G (p.Gly812=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47337476G= | CA1969340032 | MYBPC3 | c.2517C= (p.Gly839=) c.*22C= (n.*22C=) c.2499C= (p.Gly833=) c.2436C= (p.Gly812=) | |
| 11 | g.47337476G>T | CA474429319 | MYBPC3 | c.2517C>A (p.Gly839=) c.*22C>A (n.*22C>A) c.2499C>A (p.Gly833=) c.2436C>A (p.Gly812=) | ClinVar gnomAD v4 |
| 11 | g.47337477C>A | CA380318205 | MYBPC3 | c.2516G>T (p.Gly839Val) c.*21G>T (n.*21G>T) c.2498G>T (p.Gly833Val) c.2435G>T (p.Gly812Val) | |
| 11 | g.47337477C= | CA1969340039 | MYBPC3 | c.2516G= (p.Gly839=) c.*21G= (n.*21G=) c.2498G= (p.Gly833=) c.2435G= (p.Gly812=) | |
| 11 | g.47337477C>G | CA380318206 | MYBPC3 | c.2516G>C (p.Gly839Ala) c.*21G>C (n.*21G>C) c.2498G>C (p.Gly833Ala) c.2435G>C (p.Gly812Ala) | |
| 11 | g.47337477C>T | CA380318207 | MYBPC3 | c.2516G>A (p.Gly839Asp) c.*21G>A (n.*21G>A) c.2498G>A (p.Gly833Asp) c.2435G>A (p.Gly812Asp) | dbSNP gnomAD v4 |
| 11 | g.47337478_47337512del | CA2573051151 | MYBPC3 | c.2482_2516del (p.Glu828ArgfsTer?) c.2414_*21del c.2464_2498del (p.Glu822ArgfsTer?) c.2401_2435del (p.Glu801ArgfsTer?) | |
| 11 | g.47337478C>A | CA380318209 | MYBPC3 | c.2515G>T (p.Gly839Cys) c.*20G>T (n.*20G>T) c.2497G>T (p.Gly833Cys) c.2434G>T (p.Gly812Cys) | |
| 11 | g.47337478C= | CA1969340042 | MYBPC3 | c.2515G= (p.Gly839=) c.*20G= (n.*20G=) c.2497G= (p.Gly833=) c.2434G= (p.Gly812=) | |
| 11 | g.47337478C>G | CA380318208 | MYBPC3 | c.2515G>C (p.Gly839Arg) c.*20G>C (n.*20G>C) c.2497G>C (p.Gly833Arg) c.2434G>C (p.Gly812Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47337478C>T | CA050296 | MYBPC3 | c.2515G>A (p.Gly839Ser) c.*20G>A (n.*20G>A) c.2497G>A (p.Gly833Ser) c.2434G>A (p.Gly812Ser) | ClinVar gnomAD v4 |
| 11 | g.47337479C>A | CA380318210 | MYBPC3 | c.2514G>T (p.Glu838Asp) c.*19G>T (n.*19G>T) c.2496G>T (p.Glu832Asp) c.2433G>T (p.Glu811Asp) | |
| 11 | g.47337479C>G | CA380318211 | MYBPC3 | c.2514G>C (p.Glu838Asp) c.*19G>C (n.*19G>C) c.2496G>C (p.Glu832Asp) c.2433G>C (p.Glu811Asp) | gnomAD v4 |
| 11 | g.47337479C>T | CA474429320 | MYBPC3 | c.2514G>A (p.Glu838=) c.*19G>A (n.*19G>A) c.2496G>A (p.Glu832=) c.2433G>A (p.Glu811=) | |
| 11 | g.47337479_47337483delinsCTCGA | CA1969340045 | MYBPC3 | c.2510_2514delinsTCGAG (p.Ile837=) c.*15_*19delinsTCGAG (n.*15_*19delinsTCGAG) c.2492_2496delinsTCGAG (p.Ile831=) c.2429_2433delinsTCGAG (p.Ile810=) | |
| 11 | g.47337480T>A | CA380318212 | MYBPC3 | c.2513A>T (p.Glu838Val) c.*18A>T (n.*18A>T) c.2495A>T (p.Glu832Val) c.2432A>T (p.Glu811Val) | |
| 11 | g.47337480T>C | CA380318213 | MYBPC3 | c.2513A>G (p.Glu838Gly) c.*18A>G (n.*18A>G) c.2495A>G (p.Glu832Gly) c.2432A>G (p.Glu811Gly) | |
| 11 | g.47337480T>G | CA380318214 | MYBPC3 | c.2513A>C (p.Glu838Ala) c.*18A>C (n.*18A>C) c.2495A>C (p.Glu832Ala) c.2432A>C (p.Glu811Ala) | |
| 11 | g.47337480T= | CA1969340050 | MYBPC3 | c.2513A= (p.Glu838=) c.*18A= (n.*18A=) c.2495A= (p.Glu832=) c.2432A= (p.Glu811=) | |
| 11 | g.47337482_47337485del | CA916081640 | MYBPC3 | c.2510_2513del (p.Ile837ArgfsTer?) c.*15_*18del (n.*15_*18del) c.2492_2495del (p.Ile831ArgfsTer?) c.2429_2432del (p.Ile810ArgfsTer?) | ClinVar dbSNP |