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.47335937_47335950del | CA2695213960 | MYBPC3 | c.2666_2679del (p.Lys889ArgfsTer?) c.*171_*184del (n.*171_*184del) c.2648_2661del (p.Lys883ArgfsTer?) c.2585_2598del (p.Lys862ArgfsTer?) | |
| 11 | g.47335942_47335967dup | CA658656133 | MYBPC3 | c.2648_2673dup (p.Pro892ThrfsTer?) c.*153_*178dup (n.*153_*178dup) c.2630_2655dup (p.Pro886ThrfsTer?) c.2567_2592dup (p.Pro865ThrfsTer?) | ClinVar dbSNP |
| 11 | g.47335942C>A | CA380317330 | MYBPC3 | c.2672G>T (p.Arg891Leu) c.*177G>T (n.*177G>T) c.2654G>T (p.Arg885Leu) c.2591G>T (p.Arg864Leu) | gnomAD v4 |
| 11 | g.47335942C= | CA1969338021 | MYBPC3 | c.2672G= (p.Arg891=) c.*177G= (n.*177G=) c.2654G= (p.Arg885=) c.2591G= (p.Arg864=) | |
| 11 | g.47335942C>G | CA380317331 | MYBPC3 | c.2672G>C (p.Arg891Pro) c.*177G>C (n.*177G>C) c.2654G>C (p.Arg885Pro) c.2591G>C (p.Arg864Pro) | |
| 11 | g.47335942C>T | CA012826 | MYBPC3 | c.2672G>A (p.Arg891Gln) c.*177G>A (n.*177G>A) c.2654G>A (p.Arg885Gln) c.2591G>A (p.Arg864Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47335943G>A | CA012818 | MYBPC3 | c.2671C>T (p.Arg891Trp) c.*176C>T (n.*176C>T) c.2653C>T (p.Arg885Trp) c.2590C>T (p.Arg864Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47335943G>C | CA380317332 | MYBPC3 | c.2671C>G (p.Arg891Gly) c.*176C>G (n.*176C>G) c.2653C>G (p.Arg885Gly) c.2590C>G (p.Arg864Gly) | |
| 11 | g.47335943G= | CA1969338025 | MYBPC3 | c.2671C= (p.Arg891=) c.*176C= (n.*176C=) c.2653C= (p.Arg885=) c.2590C= (p.Arg864=) | |
| 11 | g.47335943G>T | CA474214497 | MYBPC3 | c.2671C>A (p.Arg891=) c.*176C>A (n.*176C>A) c.2653C>A (p.Arg885=) c.2590C>A (p.Arg864=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47335944C>A | CA380317333 | MYBPC3 | c.2670G>T (p.Trp890Cys) c.*175G>T (n.*175G>T) c.2652G>T (p.Trp884Cys) c.2589G>T (p.Trp863Cys) | |
| 11 | g.47335944C= | CA1969338031 | MYBPC3 | c.2670G= (p.Trp890=) c.*175G= (n.*175G=) c.2652G= (p.Trp884=) c.2589G= (p.Trp863=) | |
| 11 | g.47335944C>G | CA380317334 | MYBPC3 | c.2670G>C (p.Trp890Cys) c.*175G>C (n.*175G>C) c.2652G>C (p.Trp884Cys) c.2589G>C (p.Trp863Cys) | |
| 11 | g.47335944C>T | CA012809 | MYBPC3 | c.2670G>A (p.Trp890Ter) c.*175G>A (n.*175G>A) c.2652G>A (p.Trp884Ter) c.2589G>A (p.Trp863Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47335945dup | CA279270 | MYBPC3 | c.2670dup (p.Arg891AlafsTer?) c.*175dup (n.*175dup) c.2652dup (p.Arg885AlafsTer?) c.2589dup (p.Arg864AlafsTer?) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47335945C>A | CA380317335 | MYBPC3 | c.2669G>T (p.Trp890Leu) c.*174G>T (n.*174G>T) c.2651G>T (p.Trp884Leu) c.2588G>T (p.Trp863Leu) | gnomAD v4 |
| 11 | g.47335945C>G | CA380317336 | MYBPC3 | c.2669G>C (p.Trp890Ser) c.*174G>C (n.*174G>C) c.2651G>C (p.Trp884Ser) c.2588G>C (p.Trp863Ser) | |
| 11 | g.47335945C>T | CA051149 | MYBPC3 | c.2669G>A (p.Trp890Ter) c.*174G>A (n.*174G>A) c.2651G>A (p.Trp884Ter) c.2588G>A (p.Trp863Ter) | gnomAD v4 |
| 11 | g.47335946A= | CA1969338036 | MYBPC3 | c.2668T= (p.Trp890=) c.*173T= (n.*173T=) c.2650T= (p.Trp884=) c.2587T= (p.Trp863=) | |
| 11 | g.47335946A>C | CA078897 | MYBPC3 | c.2668T>G (p.Trp890Gly) c.*173T>G (n.*173T>G) c.2650T>G (p.Trp884Gly) c.2587T>G (p.Trp863Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47335946A>G | CA380317338 | MYBPC3 | c.2668T>C (p.Trp890Arg) c.*173T>C (n.*173T>C) c.2650T>C (p.Trp884Arg) c.2587T>C (p.Trp863Arg) | gnomAD v4 |
| 11 | g.47335946A>T | CA380317337 | MYBPC3 | c.2668T>A (p.Trp890Arg) c.*173T>A (n.*173T>A) c.2650T>A (p.Trp884Arg) c.2587T>A (p.Trp863Arg) | |
| 11 | g.47335947C>A | CA380317339 | MYBPC3 | c.2667G>T (p.Lys889Asn) c.*172G>T (n.*172G>T) c.2649G>T (p.Lys883Asn) c.2586G>T (p.Lys862Asn) | gnomAD v4 |
| 11 | g.47335947C= | CA1969338040 | MYBPC3 | c.2667G= (p.Lys889=) c.*172G= (n.*172G=) c.2649G= (p.Lys883=) c.2586G= (p.Lys862=) | |
| 11 | g.47335947C>G | CA380317340 | MYBPC3 | c.2667G>C (p.Lys889Asn) c.*172G>C (n.*172G>C) c.2649G>C (p.Lys883Asn) c.2586G>C (p.Lys862Asn) | |
| 11 | g.47335947C>T | CA474214509 | MYBPC3 | c.2667G>A (p.Lys889=) c.*172G>A (n.*172G>A) c.2649G>A (p.Lys883=) c.2586G>A (p.Lys862=) | dbSNP gnomAD v4 |
| 11 | g.47335948T>A | CA380317341 | MYBPC3 | c.2666A>T (p.Lys889Met) c.*171A>T (n.*171A>T) c.2648A>T (p.Lys883Met) c.2585A>T (p.Lys862Met) | gnomAD v4 |
| 11 | g.47335948T>C | CA380317343 | MYBPC3 | c.2666A>G (p.Lys889Arg) c.*171A>G (n.*171A>G) c.2648A>G (p.Lys883Arg) c.2585A>G (p.Lys862Arg) | |
| 11 | g.47335948T>G | CA380317342 | MYBPC3 | c.2666A>C (p.Lys889Thr) c.*171A>C (n.*171A>C) c.2648A>C (p.Lys883Thr) c.2585A>C (p.Lys862Thr) | |
| 11 | g.47335949T>A | CA380317344 | MYBPC3 | c.2665A>T (p.Lys889Ter) c.*170A>T (n.*170A>T) c.2647A>T (p.Lys883Ter) c.2584A>T (p.Lys862Ter) | |
| 11 | g.47335949T>C | CA221685890 | MYBPC3 | c.2665A>G (p.Lys889Glu) c.*170A>G (n.*170A>G) c.2647A>G (p.Lys883Glu) c.2584A>G (p.Lys862Glu) | dbSNP gnomAD v4 |
| 11 | g.47335949T>G | CA380317345 | MYBPC3 | c.2665A>C (p.Lys889Gln) c.*170A>C (n.*170A>C) c.2647A>C (p.Lys883Gln) c.2584A>C (p.Lys862Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47335949T= | CA1969338044 | MYBPC3 | c.2665A= (p.Lys889=) c.*170A= (n.*170A=) c.2647A= (p.Lys883=) c.2584A= (p.Lys862=) | |
| 11 | g.47335950G>A | CA474214521 | MYBPC3 | c.2664C>T (p.Leu888=) c.*169C>T (n.*169C>T) c.2646C>T (p.Leu882=) c.2583C>T (p.Leu861=) | |
| 11 | g.47335950G>C | CA474214523 | MYBPC3 | c.2664C>G (p.Leu888=) c.*169C>G (n.*169C>G) c.2646C>G (p.Leu882=) c.2583C>G (p.Leu861=) | |
| 11 | g.47335950G>T | CA474214525 | MYBPC3 | c.2664C>A (p.Leu888=) c.*169C>A (n.*169C>A) c.2646C>A (p.Leu882=) c.2583C>A (p.Leu861=) | gnomAD v4 |
| 11 | g.47335951del | CA2613398010 | MYBPC3 | c.2663del (p.Leu888ProfsTer?) c.*168del (n.*168del) c.2645del (p.Leu882ProfsTer?) c.2582del (p.Leu861ProfsTer?) | gnomAD v4 |
| 11 | g.47335951A>C | CA380317346 | MYBPC3 | c.2663T>G (p.Leu888Arg) c.*168T>G (n.*168T>G) c.2645T>G (p.Leu882Arg) c.2582T>G (p.Leu861Arg) | |
| 11 | g.47335951A>G | CA380317347 | MYBPC3 | c.2663T>C (p.Leu888Pro) c.*168T>C (n.*168T>C) c.2645T>C (p.Leu882Pro) c.2582T>C (p.Leu861Pro) | gnomAD v4 |
| 11 | g.47335951A>T | CA380317348 | MYBPC3 | c.2663T>A (p.Leu888His) c.*168T>A (n.*168T>A) c.2645T>A (p.Leu882His) c.2582T>A (p.Leu861His) | gnomAD v4 |
| 11 | g.47335952G>A | CA380317349 | MYBPC3 | c.2662C>T (p.Leu888Phe) c.*167C>T (n.*167C>T) c.2644C>T (p.Leu882Phe) c.2581C>T (p.Leu861Phe) | gnomAD v4 COSMIC COSMIC |
| 11 | g.47335952G>C | CA380317350 | MYBPC3 | c.2662C>G (p.Leu888Val) c.*167C>G (n.*167C>G) c.2644C>G (p.Leu882Val) c.2581C>G (p.Leu861Val) | |
| 11 | g.47335952G>T | CA380317351 | MYBPC3 | c.2662C>A (p.Leu888Ile) c.*167C>A (n.*167C>A) c.2644C>A (p.Leu882Ile) c.2581C>A (p.Leu861Ile) | gnomAD v4 |
| 11 | g.47335954del | CA2613398015 | MYBPC3 | c.2662del (p.Leu888SerfsTer?) c.*167del (n.*167del) c.2644del (p.Leu882SerfsTer?) c.2581del (p.Leu861SerfsTer?) | gnomAD v4 |
| 11 | g.47335953G>A | CA474214531 | MYBPC3 | c.2661C>T (p.Ser887=) c.*166C>T (n.*166C>T) c.2643C>T (p.Ser881=) c.2580C>T (p.Ser860=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47335953G>C | CA474214532 | MYBPC3 | c.2661C>G (p.Ser887=) c.*166C>G (n.*166C>G) c.2643C>G (p.Ser881=) c.2580C>G (p.Ser860=) | |
| 11 | g.47335953G= | CA1969338052 | MYBPC3 | c.2661C= (p.Ser887=) c.*166C= (n.*166C=) c.2643C= (p.Ser881=) c.2580C= (p.Ser860=) | |
| 11 | g.47335953G>T | CA474214534 | MYBPC3 | c.2661C>A (p.Ser887=) c.*166C>A (n.*166C>A) c.2643C>A (p.Ser881=) c.2580C>A (p.Ser860=) | dbSNP gnomAD v4 |
| 11 | g.47335954G>A | CA380317352 | MYBPC3 | c.2660C>T (p.Ser887Phe) c.*165C>T (n.*165C>T) c.2642C>T (p.Ser881Phe) c.2579C>T (p.Ser860Phe) | gnomAD v4 COSMIC COSMIC |
| 11 | g.47335954G>C | CA380317353 | MYBPC3 | c.2660C>G (p.Ser887Cys) c.*165C>G (n.*165C>G) c.2642C>G (p.Ser881Cys) c.2579C>G (p.Ser860Cys) | gnomAD v4 |
| 11 | g.47335954G>T | CA380317354 | MYBPC3 | c.2660C>A (p.Ser887Tyr) c.*165C>A (n.*165C>A) c.2642C>A (p.Ser881Tyr) c.2579C>A (p.Ser860Tyr) | |
| 11 | g.47335955A= | CA1969338054 | MYBPC3 | c.2659T= (p.Ser887=) c.*164T= (n.*164T=) c.2641T= (p.Ser881=) c.2578T= (p.Ser860=) | |
| 11 | g.47335955A>C | CA380317355 | MYBPC3 | c.2659T>G (p.Ser887Ala) c.*164T>G (n.*164T>G) c.2641T>G (p.Ser881Ala) c.2578T>G (p.Ser860Ala) | |
| 11 | g.47335955A>G | CA380317356 | MYBPC3 | c.2659T>C (p.Ser887Pro) c.*164T>C (n.*164T>C) c.2641T>C (p.Ser881Pro) c.2578T>C (p.Ser860Pro) | gnomAD v4 |
| 11 | g.47335955A>T | CA380317357 | MYBPC3 | c.2659T>A (p.Ser887Thr) c.*164T>A (n.*164T>A) c.2641T>A (p.Ser881Thr) c.2578T>A (p.Ser860Thr) | ClinVar dbSNP |
| 11 | g.47335956G>A | CA474214547 | MYBPC3 | c.2658C>T (p.Val886=) c.*163C>T (n.*163C>T) c.2640C>T (p.Val880=) c.2577C>T (p.Val859=) | dbSNP gnomAD v4 |
| 11 | g.47335956G>C | CA474214549 | MYBPC3 | c.2658C>G (p.Val886=) c.*163C>G (n.*163C>G) c.2640C>G (p.Val880=) c.2577C>G (p.Val859=) | |
| 11 | g.47335956G= | CA1969338056 | MYBPC3 | c.2658C= (p.Val886=) c.*163C= (n.*163C=) c.2640C= (p.Val880=) c.2577C= (p.Val859=) | |
| 11 | g.47335956G>T | CA474214551 | MYBPC3 | c.2658C>A (p.Val886=) c.*163C>A (n.*163C>A) c.2640C>A (p.Val880=) c.2577C>A (p.Val859=) | gnomAD v4 |
| 11 | g.47335957A>C | CA380317360 | MYBPC3 | c.2657T>G (p.Val886Gly) c.*162T>G (n.*162T>G) c.2639T>G (p.Val880Gly) c.2576T>G (p.Val859Gly) | |
| 11 | g.47335957A>G | CA380317358 | MYBPC3 | c.2657T>C (p.Val886Ala) c.*162T>C (n.*162T>C) c.2639T>C (p.Val880Ala) c.2576T>C (p.Val859Ala) | gnomAD v4 |
| 11 | g.47335957A>T | CA380317359 | MYBPC3 | c.2657T>A (p.Val886Asp) c.*162T>A (n.*162T>A) c.2639T>A (p.Val880Asp) c.2576T>A (p.Val859Asp) | |
| 11 | g.47335958C>A | CA380317361 | MYBPC3 | c.2656G>T (p.Val886Phe) c.*161G>T (n.*161G>T) c.2638G>T (p.Val880Phe) c.2575G>T (p.Val859Phe) | gnomAD v4 |
| 11 | g.47335958C>G | CA380317362 | MYBPC3 | c.2656G>C (p.Val886Leu) c.*161G>C (n.*161G>C) c.2638G>C (p.Val880Leu) c.2575G>C (p.Val859Leu) | |
| 11 | g.47335958C>T | CA380317363 | MYBPC3 | c.2656G>A (p.Val886Ile) c.*161G>A (n.*161G>A) c.2638G>A (p.Val880Ile) c.2575G>A (p.Val859Ile) | gnomAD v4 |
| 11 | g.47335959C>A | CA474214564 | MYBPC3 | c.2655G>T (p.Thr885=) c.*160G>T (n.*160G>T) c.2637G>T (p.Thr879=) c.2574G>T (p.Thr858=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47335959C= | CA1969338058 | MYBPC3 | c.2655G= (p.Thr885=) c.*160G= (n.*160G=) c.2637G= (p.Thr879=) c.2574G= (p.Thr858=) | |
| 11 | g.47335959C>G | CA474214559 | MYBPC3 | c.2655G>C (p.Thr885=) c.*160G>C (n.*160G>C) c.2637G>C (p.Thr879=) c.2574G>C (p.Thr858=) | ClinVar |
| 11 | g.47335959C>T | CA078894 | MYBPC3 | c.2655G>A (p.Thr885=) c.*160G>A (n.*160G>A) c.2637G>A (p.Thr879=) c.2574G>A (p.Thr858=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47335960G>A | CA012806 | MYBPC3 | c.2654C>T (p.Thr885Met) c.*159C>T (n.*159C>T) c.2636C>T (p.Thr879Met) c.2573C>T (p.Thr858Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47335960G>C | CA380317364 | MYBPC3 | c.2654C>G (p.Thr885Arg) c.*159C>G (n.*159C>G) c.2636C>G (p.Thr879Arg) c.2573C>G (p.Thr858Arg) | gnomAD v4 |
| 11 | g.47335960G= | CA1969338065 | MYBPC3 | c.2654C= (p.Thr885=) c.*159C= (n.*159C=) c.2636C= (p.Thr879=) c.2573C= (p.Thr858=) | |
| 11 | g.47335960G>T | CA380317365 | MYBPC3 | c.2654C>A (p.Thr885Lys) c.*159C>A (n.*159C>A) c.2636C>A (p.Thr879Lys) c.2573C>A (p.Thr858Lys) | gnomAD v4 |
| 11 | g.47335961T>A | CA380317366 | MYBPC3 | c.2653A>T (p.Thr885Ser) c.*158A>T (n.*158A>T) c.2635A>T (p.Thr879Ser) c.2572A>T (p.Thr858Ser) | gnomAD v4 |
| 11 | g.47335961T>C | CA380317367 | MYBPC3 | c.2653A>G (p.Thr885Ala) c.*158A>G (n.*158A>G) c.2635A>G (p.Thr879Ala) c.2572A>G (p.Thr858Ala) | gnomAD v4 |
| 11 | g.47335961T>G | CA380317368 | MYBPC3 | c.2653A>C (p.Thr885Pro) c.*158A>C (n.*158A>C) c.2635A>C (p.Thr879Pro) c.2572A>C (p.Thr858Pro) | gnomAD v4 |
| 11 | g.47335962G>A | CA474214575 | MYBPC3 | c.2652C>T (p.Thr884=) c.*157C>T (n.*157C>T) c.2634C>T (p.Thr878=) c.2571C>T (p.Thr857=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47335962G>C | CA474214573 | MYBPC3 | c.2652C>G (p.Thr884=) c.*157C>G (n.*157C>G) c.2634C>G (p.Thr878=) c.2571C>G (p.Thr857=) | |
| 11 | g.47335962G= | CA1969338071 | MYBPC3 | c.2652C= (p.Thr884=) c.*157C= (n.*157C=) c.2634C= (p.Thr878=) c.2571C= (p.Thr857=) | |
| 11 | g.47335962G>T | CA474214572 | MYBPC3 | c.2652C>A (p.Thr884=) c.*157C>A (n.*157C>A) c.2634C>A (p.Thr878=) c.2571C>A (p.Thr857=) | gnomAD v4 |
| 11 | g.47335963G>A | CA051104 | MYBPC3 | c.2651C>T (p.Thr884Ile) c.*156C>T (n.*156C>T) c.2633C>T (p.Thr878Ile) c.2570C>T (p.Thr857Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47335963G>C | CA380317370 | MYBPC3 | c.2651C>G (p.Thr884Ser) c.*156C>G (n.*156C>G) c.2633C>G (p.Thr878Ser) c.2570C>G (p.Thr857Ser) | |
| 11 | g.47335963G= | CA1969338076 | MYBPC3 | c.2651C= (p.Thr884=) c.*156C= (n.*156C=) c.2633C= (p.Thr878=) c.2570C= (p.Thr857=) | |
| 11 | g.47335963G>T | CA380317369 | MYBPC3 | c.2651C>A (p.Thr884Asn) c.*156C>A (n.*156C>A) c.2633C>A (p.Thr878Asn) c.2570C>A (p.Thr857Asn) | gnomAD v4 |
| 11 | g.47335964T>A | CA380317371 | MYBPC3 | c.2650A>T (p.Thr884Ser) c.*155A>T (n.*155A>T) c.2632A>T (p.Thr878Ser) c.2569A>T (p.Thr857Ser) | |
| 11 | g.47335964T>C | CA380317372 | MYBPC3 | c.2650A>G (p.Thr884Ala) c.*155A>G (n.*155A>G) c.2632A>G (p.Thr878Ala) c.2569A>G (p.Thr857Ala) | gnomAD v4 |
| 11 | g.47335964T>G | CA380317373 | MYBPC3 | c.2650A>C (p.Thr884Pro) c.*155A>C (n.*155A>C) c.2632A>C (p.Thr878Pro) c.2569A>C (p.Thr857Pro) | gnomAD v4 |
| 11 | g.47335965G>A | CA474214581 | MYBPC3 | c.2649C>T (p.Asp883=) c.*154C>T (n.*154C>T) c.2631C>T (p.Asp877=) c.2568C>T (p.Asp856=) | gnomAD v4 |
| 11 | g.47335965G>C | CA380317374 | MYBPC3 | c.2649C>G (p.Asp883Glu) c.*154C>G (n.*154C>G) c.2631C>G (p.Asp877Glu) c.2568C>G (p.Asp856Glu) | |
| 11 | g.47335965G>T | CA380317375 | MYBPC3 | c.2649C>A (p.Asp883Glu) c.*154C>A (n.*154C>A) c.2631C>A (p.Asp877Glu) c.2568C>A (p.Asp856Glu) | gnomAD v4 |
| 11 | g.47335966T>A | CA380317376 | MYBPC3 | c.2648A>T (p.Asp883Val) c.*153A>T (n.*153A>T) c.2630A>T (p.Asp877Val) c.2567A>T (p.Asp856Val) | |
| 11 | g.47335966T>C | CA380317377 | MYBPC3 | c.2648A>G (p.Asp883Gly) c.*153A>G (n.*153A>G) c.2630A>G (p.Asp877Gly) c.2567A>G (p.Asp856Gly) | gnomAD v4 |
| 11 | g.47335966T>G | CA380317378 | MYBPC3 | c.2648A>C (p.Asp883Ala) c.*153A>C (n.*153A>C) c.2630A>C (p.Asp877Ala) c.2567A>C (p.Asp856Ala) | |
| 11 | g.47335967C>A | CA380317379 | MYBPC3 | c.2647G>T (p.Asp883Tyr) c.*152G>T (n.*152G>T) c.2629G>T (p.Asp877Tyr) c.2566G>T (p.Asp856Tyr) | |
| 11 | g.47335967C>G | CA380317380 | MYBPC3 | c.2647G>C (p.Asp883His) c.*152G>C (n.*152G>C) c.2629G>C (p.Asp877His) c.2566G>C (p.Asp856His) | |
| 11 | g.47335967C>T | CA380317381 | MYBPC3 | c.2647G>A (p.Asp883Asn) c.*152G>A (n.*152G>A) c.2629G>A (p.Asp877Asn) c.2566G>A (p.Asp856Asn) | |
| 11 | g.47335968A>C | CA474214593 | MYBPC3 | c.2646T>G (p.Ser882=) c.*151T>G (n.*151T>G) c.2628T>G (p.Ser876=) c.2565T>G (p.Ser855=) | |
| 11 | g.47335968A>G | CA474214596 | MYBPC3 | c.2646T>C (p.Ser882=) c.*151T>C (n.*151T>C) c.2628T>C (p.Ser876=) c.2565T>C (p.Ser855=) | gnomAD v4 |
| 11 | g.47335968A>T | CA474214598 | MYBPC3 | c.2646T>A (p.Ser882=) c.*151T>A (n.*151T>A) c.2628T>A (p.Ser876=) c.2565T>A (p.Ser855=) | gnomAD v4 |
| 11 | g.47335971_47335972del | CA2580615694 | MYBPC3 | c.2645_2646del (p.Ser882Ter) c.*150_*151del (n.*150_*151del) c.2627_2628del (p.Ser876Ter) c.2564_2565del (p.Ser855Ter) | ClinVar |
| 11 | g.47335969G>A | CA380317384 | MYBPC3 | c.2645C>T (p.Ser882Phe) c.*150C>T (n.*150C>T) c.2627C>T (p.Ser876Phe) c.2564C>T (p.Ser855Phe) | ClinVar |
| 11 | g.47335969G>C | CA380317383 | MYBPC3 | c.2645C>G (p.Ser882Cys) c.*150C>G (n.*150C>G) c.2627C>G (p.Ser876Cys) c.2564C>G (p.Ser855Cys) | |
| 11 | g.47335969G>T | CA380317382 | MYBPC3 | c.2645C>A (p.Ser882Tyr) c.*150C>A (n.*150C>A) c.2627C>A (p.Ser876Tyr) c.2564C>A (p.Ser855Tyr) | gnomAD v4 |
| 11 | g.47335970A>C | CA380317385 | MYBPC3 | c.2644T>G (p.Ser882Ala) c.*149T>G (n.*149T>G) c.2626T>G (p.Ser876Ala) c.2563T>G (p.Ser855Ala) | gnomAD v4 |
| 11 | g.47335970A>G | CA380317386 | MYBPC3 | c.2644T>C (p.Ser882Pro) c.*149T>C (n.*149T>C) c.2626T>C (p.Ser876Pro) c.2563T>C (p.Ser855Pro) | gnomAD v4 |
| 11 | g.47335970A>T | CA380317387 | MYBPC3 | c.2644T>A (p.Ser882Thr) c.*149T>A (n.*149T>A) c.2626T>A (p.Ser876Thr) c.2563T>A (p.Ser855Thr) | |
| 11 | g.47335971G>A | CA474214608 | MYBPC3 | c.2643C>T (p.Val881=) c.*148C>T (n.*148C>T) c.2625C>T (p.Val875=) c.2562C>T (p.Val854=) | |
| 11 | g.47335971G>C | CA474214609 | MYBPC3 | c.2643C>G (p.Val881=) c.*148C>G (n.*148C>G) c.2625C>G (p.Val875=) c.2562C>G (p.Val854=) | |
| 11 | g.47335971G>T | CA474214610 | MYBPC3 | c.2643C>A (p.Val881=) c.*148C>A (n.*148C>A) c.2625C>A (p.Val875=) c.2562C>A (p.Val854=) | gnomAD v4 |
| 11 | g.47335972A>C | CA380317388 | MYBPC3 | c.2642T>G (p.Val881Gly) c.*147T>G (n.*147T>G) c.2624T>G (p.Val875Gly) c.2561T>G (p.Val854Gly) | |
| 11 | g.47335972A>G | CA380317389 | MYBPC3 | c.2642T>C (p.Val881Ala) c.*147T>C (n.*147T>C) c.2624T>C (p.Val875Ala) c.2561T>C (p.Val854Ala) | ClinVar gnomAD v4 |
| 11 | g.47335972A>T | CA380317390 | MYBPC3 | c.2642T>A (p.Val881Asp) c.*147T>A (n.*147T>A) c.2624T>A (p.Val875Asp) c.2561T>A (p.Val854Asp) | |
| 11 | g.47335972_47335975del | CA2580617955 | MYBPC3 | c.2639_2642del (p.Asp880AlafsTer?) c.*144_*147del (n.*144_*147del) c.2621_2624del (p.Asp874AlafsTer?) c.2558_2561del (p.Asp853AlafsTer?) | ClinVar |
| 11 | g.47335972_47335975dup | CA915940851 | MYBPC3 | c.2639_2642dup (p.Ser882ArgfsTer3) c.*144_*147dup (n.*144_*147dup) c.2621_2624dup (p.Ser876ArgfsTer3) c.2558_2561dup (p.Ser855ArgfsTer3) | ClinVar |
| 11 | g.47335973C>A | CA380317391 | MYBPC3 | c.2641G>T (p.Val881Phe) c.*146G>T (n.*146G>T) c.2623G>T (p.Val875Phe) c.2560G>T (p.Val854Phe) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47335973C= | CA1969338080 | MYBPC3 | c.2641G= (p.Val881=) c.*146G= (n.*146G=) c.2623G= (p.Val875=) c.2560G= (p.Val854=) | |
| 11 | g.47335973C>G | CA380317392 | MYBPC3 | c.2641G>C (p.Val881Leu) c.*146G>C (n.*146G>C) c.2623G>C (p.Val875Leu) c.2560G>C (p.Val854Leu) | gnomAD v4 |
| 11 | g.47335973C>T | CA012797 | MYBPC3 | c.2641G>A (p.Val881Ile) c.*146G>A (n.*146G>A) c.2623G>A (p.Val875Ile) c.2560G>A (p.Val854Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47335974G>A | CA012791 | MYBPC3 | c.2640C>T (p.Asp880=) c.*145C>T (n.*145C>T) c.2622C>T (p.Asp874=) c.2559C>T (p.Asp853=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47335974G>C | CA380317393 | MYBPC3 | c.2640C>G (p.Asp880Glu) c.*145C>G (n.*145C>G) c.2622C>G (p.Asp874Glu) c.2559C>G (p.Asp853Glu) | |
| 11 | g.47335974G= | CA1969338084 | MYBPC3 | c.2640C= (p.Asp880=) c.*145C= (n.*145C=) c.2622C= (p.Asp874=) c.2559C= (p.Asp853=) | |
| 11 | g.47335974G>T | CA380317394 | MYBPC3 | c.2640C>A (p.Asp880Glu) c.*145C>A (n.*145C>A) c.2622C>A (p.Asp874Glu) c.2559C>A (p.Asp853Glu) | gnomAD v4 |
| 11 | g.47335975T>A | CA380317396 | MYBPC3 | c.2639A>T (p.Asp880Val) c.*144A>T (n.*144A>T) c.2621A>T (p.Asp874Val) c.2558A>T (p.Asp853Val) | |
| 11 | g.47335975T>C | CA380317395 | MYBPC3 | c.2639A>G (p.Asp880Gly) c.*144A>G (n.*144A>G) c.2621A>G (p.Asp874Gly) c.2558A>G (p.Asp853Gly) | gnomAD v4 COSMIC COSMIC |
| 11 | g.47335975T>G | CA10638732 | MYBPC3 | c.2639A>C (p.Asp880Ala) c.*144A>C (n.*144A>C) c.2621A>C (p.Asp874Ala) c.2558A>C (p.Asp853Ala) | ClinVar dbSNP |
| 11 | g.47335975T= | CA1969338092 | MYBPC3 | c.2639A= (p.Asp880=) c.*144A= (n.*144A=) c.2621A= (p.Asp874=) c.2558A= (p.Asp853=) | |
| 11 | g.47335976C>A | CA380317397 | MYBPC3 | c.2638G>T (p.Asp880Tyr) c.*143G>T (n.*143G>T) c.2620G>T (p.Asp874Tyr) c.2557G>T (p.Asp853Tyr) | gnomAD v4 |
| 11 | g.47335976C>G | CA380317398 | MYBPC3 | c.2638G>C (p.Asp880His) c.*143G>C (n.*143G>C) c.2620G>C (p.Asp874His) c.2557G>C (p.Asp853His) | gnomAD v4 |
| 11 | g.47335976C>T | CA051054 | MYBPC3 | c.2638G>A (p.Asp880Asn) c.*143G>A (n.*143G>A) c.2620G>A (p.Asp874Asn) c.2557G>A (p.Asp853Asn) | gnomAD v4 |
| 11 | g.47335977C>A | CA380317399 | MYBPC3 | c.2637G>T (p.Glu879Asp) c.*142G>T (n.*142G>T) c.2619G>T (p.Glu873Asp) c.2556G>T (p.Glu852Asp) | gnomAD v4 |
| 11 | g.47335977C= | CA1969338097 | MYBPC3 | c.2637G= (p.Glu879=) c.*142G= (n.*142G=) c.2619G= (p.Glu873=) c.2556G= (p.Glu852=) | |
| 11 | g.47335977C>G | CA380317400 | MYBPC3 | c.2637G>C (p.Glu879Asp) c.*142G>C (n.*142G>C) c.2619G>C (p.Glu873Asp) c.2556G>C (p.Glu852Asp) | |
| 11 | g.47335977C>T | CA474214625 | MYBPC3 | c.2637G>A (p.Glu879=) c.*142G>A (n.*142G>A) c.2619G>A (p.Glu873=) c.2556G>A (p.Glu852=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47335978T>A | CA380317403 | MYBPC3 | c.2636A>T (p.Glu879Val) c.*141A>T (n.*141A>T) c.2618A>T (p.Glu873Val) c.2555A>T (p.Glu852Val) | gnomAD v4 |
| 11 | g.47335978T>C | CA380317402 | MYBPC3 | c.2636A>G (p.Glu879Gly) c.*141A>G (n.*141A>G) c.2618A>G (p.Glu873Gly) c.2555A>G (p.Glu852Gly) | gnomAD v4 |
| 11 | g.47335978T>G | CA380317401 | MYBPC3 | c.2636A>C (p.Glu879Ala) c.*141A>C (n.*141A>C) c.2618A>C (p.Glu873Ala) c.2555A>C (p.Glu852Ala) | |
| 11 | g.47335979C>A | CA380317404 | MYBPC3 | c.2635G>T (p.Glu879Ter) c.*140G>T (n.*140G>T) c.2617G>T (p.Glu873Ter) c.2554G>T (p.Glu852Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47335979C= | CA1969338102 | MYBPC3 | c.2635G= (p.Glu879=) c.*140G= (n.*140G=) c.2617G= (p.Glu873=) c.2554G= (p.Glu852=) | |
| 11 | g.47335979C>G | CA380317405 | MYBPC3 | c.2635G>C (p.Glu879Gln) c.*140G>C (n.*140G>C) c.2617G>C (p.Glu873Gln) c.2554G>C (p.Glu852Gln) | ClinVar |
| 11 | g.47335979C>T | CA380317406 | MYBPC3 | c.2635G>A (p.Glu879Lys) c.*140G>A (n.*140G>A) c.2617G>A (p.Glu873Lys) c.2554G>A (p.Glu852Lys) | |
| 11 | g.47335980T>A | CA474214637 | MYBPC3 | c.2634A>T (p.Val878=) c.*139A>T (n.*139A>T) c.2616A>T (p.Val872=) c.2553A>T (p.Val851=) | gnomAD v4 |
| 11 | g.47335980T>C | CA474214640 | MYBPC3 | c.2634A>G (p.Val878=) c.*139A>G (n.*139A>G) c.2616A>G (p.Val872=) c.2553A>G (p.Val851=) | ClinVar gnomAD v4 |
| 11 | g.47335980T>G | CA474214639 | MYBPC3 | c.2634A>C (p.Val878=) c.*139A>C (n.*139A>C) c.2616A>C (p.Val872=) c.2553A>C (p.Val851=) | |
| 11 | g.47335981del | CA2613398117 | MYBPC3 | c.2633del (p.Val878GlufsTer?) c.*138del (n.*138del) c.2615del (p.Val872GlufsTer?) c.2552del (p.Val851GlufsTer?) | gnomAD v4 |
| 11 | g.47335981A>C | CA380317407 | MYBPC3 | c.2633T>G (p.Val878Gly) c.*138T>G (n.*138T>G) c.2615T>G (p.Val872Gly) c.2552T>G (p.Val851Gly) | |
| 11 | g.47335981A>G | CA380317408 | MYBPC3 | c.2633T>C (p.Val878Ala) c.*138T>C (n.*138T>C) c.2615T>C (p.Val872Ala) c.2552T>C (p.Val851Ala) | gnomAD v4 |
| 11 | g.47335981A>T | CA380317409 | MYBPC3 | c.2633T>A (p.Val878Glu) c.*138T>A (n.*138T>A) c.2615T>A (p.Val872Glu) c.2552T>A (p.Val851Glu) | |
| 11 | g.47335982C>A | CA380317411 | MYBPC3 | c.2632G>T (p.Val878Leu) c.*137G>T (n.*137G>T) c.2614G>T (p.Val872Leu) c.2551G>T (p.Val851Leu) | gnomAD v4 |
| 11 | g.47335982C= | CA1969338106 | MYBPC3 | c.2632G= (p.Val878=) c.*137G= (n.*137G=) c.2614G= (p.Val872=) c.2551G= (p.Val851=) | |
| 11 | g.47335982C>G | CA380317410 | MYBPC3 | c.2632G>C (p.Val878Leu) c.*137G>C (n.*137G>C) c.2614G>C (p.Val872Leu) c.2551G>C (p.Val851Leu) | gnomAD v4 |
| 11 | g.47335982C>T | CA012779 | MYBPC3 | c.2632G>A (p.Val878Ile) c.*137G>A (n.*137G>A) c.2614G>A (p.Val872Ile) c.2551G>A (p.Val851Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47335983T>A | CA474214649 | MYBPC3 | c.2631A>T (p.Ala877=) c.*136A>T (n.*136A>T) c.2613A>T (p.Ala871=) c.2550A>T (p.Ala850=) | |
| 11 | g.47335983T>C | CA474214647 | MYBPC3 | c.2631A>G (p.Ala877=) c.*136A>G (n.*136A>G) c.2613A>G (p.Ala871=) c.2550A>G (p.Ala850=) | dbSNP gnomAD v4 |
| 11 | g.47335983T>G | CA474214646 | MYBPC3 | c.2631A>C (p.Ala877=) c.*136A>C (n.*136A>C) c.2613A>C (p.Ala871=) c.2550A>C (p.Ala850=) | |
| 11 | g.47335983T= | CA1969338112 | MYBPC3 | c.2631A= (p.Ala877=) c.*136A= (n.*136A=) c.2613A= (p.Ala871=) c.2550A= (p.Ala850=) | |
| 11 | g.47335984G>A | CA380317412 | MYBPC3 | c.2630C>T (p.Ala877Val) c.*135C>T (n.*135C>T) c.2612C>T (p.Ala871Val) c.2549C>T (p.Ala850Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47335984G>C | CA380317413 | MYBPC3 | c.2630C>G (p.Ala877Gly) c.*135C>G (n.*135C>G) c.2612C>G (p.Ala871Gly) c.2549C>G (p.Ala850Gly) | |
| 11 | g.47335984G= | CA1969338116 | MYBPC3 | c.2630C= (p.Ala877=) c.*135C= (n.*135C=) c.2612C= (p.Ala871=) c.2549C= (p.Ala850=) | |
| 11 | g.47335984G>T | CA380317414 | MYBPC3 | c.2630C>A (p.Ala877Glu) c.*135C>A (n.*135C>A) c.2612C>A (p.Ala871Glu) c.2549C>A (p.Ala850Glu) | gnomAD v4 |
| 11 | g.47335985C>A | CA380317415 | MYBPC3 | c.2629G>T (p.Ala877Ser) c.*134G>T (n.*134G>T) c.2611G>T (p.Ala871Ser) c.2548G>T (p.Ala850Ser) | gnomAD v4 |
| 11 | g.47335985C>G | CA380317416 | MYBPC3 | c.2629G>C (p.Ala877Pro) c.*134G>C (n.*134G>C) c.2611G>C (p.Ala871Pro) c.2548G>C (p.Ala850Pro) | |
| 11 | g.47335985C>T | CA380317417 | MYBPC3 | c.2629G>A (p.Ala877Thr) c.*134G>A (n.*134G>A) c.2611G>A (p.Ala871Thr) c.2548G>A (p.Ala850Thr) | gnomAD v4 |
| 11 | g.47335986del | CA2613398132 | MYBPC3 | c.2629del (p.Ala877GlnfsTer2) c.*134del (n.*134del) c.2611del (p.Ala871GlnfsTer2) c.2548del (p.Ala850GlnfsTer2) | gnomAD v4 |
| 11 | g.47335986C>A | CA474214671 | MYBPC3 | c.2628G>T (p.Leu876=) c.*133G>T (n.*133G>T) c.2610G>T (p.Leu870=) c.2547G>T (p.Leu849=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47335986C= | CA1969338120 | MYBPC3 | c.2628G= (p.Leu876=) c.*133G= (n.*133G=) c.2610G= (p.Leu870=) c.2547G= (p.Leu849=) | |
| 11 | g.47335986C>G | CA474214674 | MYBPC3 | c.2628G>C (p.Leu876=) c.*133G>C (n.*133G>C) c.2610G>C (p.Leu870=) c.2547G>C (p.Leu849=) | |
| 11 | g.47335986C>T | CA474214672 | MYBPC3 | c.2628G>A (p.Leu876=) c.*133G>A (n.*133G>A) c.2610G>A (p.Leu870=) c.2547G>A (p.Leu849=) | gnomAD v4 |
| 11 | g.47335987A>C | CA380317418 | MYBPC3 | c.2627T>G (p.Leu876Arg) c.*132T>G (n.*132T>G) c.2609T>G (p.Leu870Arg) c.2546T>G (p.Leu849Arg) | |
| 11 | g.47335987A>G | CA380317419 | MYBPC3 | c.2627T>C (p.Leu876Pro) c.*132T>C (n.*132T>C) c.2609T>C (p.Leu870Pro) c.2546T>C (p.Leu849Pro) | gnomAD v4 |
| 11 | g.47335987A>T | CA380317420 | MYBPC3 | c.2627T>A (p.Leu876Gln) c.*132T>A (n.*132T>A) c.2609T>A (p.Leu870Gln) c.2546T>A (p.Leu849Gln) | |
| 11 | g.47335987_47335990del | CA2613398138 | MYBPC3 | c.2624_2627del (p.His875ArgfsTer3) c.*129_*132del (n.*129_*132del) c.2606_2609del (p.His869ArgfsTer3) c.2543_2546del (p.His848ArgfsTer3) | gnomAD v4 |
| 11 | g.47335988G>A | CA474214680 | MYBPC3 | c.2626C>T (p.Leu876=) c.*131C>T (n.*131C>T) c.2608C>T (p.Leu870=) c.2545C>T (p.Leu849=) | gnomAD v4 |
| 11 | g.47335988G>C | CA380317421 | MYBPC3 | c.2626C>G (p.Leu876Val) c.*131C>G (n.*131C>G) c.2608C>G (p.Leu870Val) c.2545C>G (p.Leu849Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47335988G= | CA1969338122 | MYBPC3 | c.2626C= (p.Leu876=) c.*131C= (n.*131C=) c.2608C= (p.Leu870=) c.2545C= (p.Leu849=) | |
| 11 | g.47335988G>T | CA380317422 | MYBPC3 | c.2626C>A (p.Leu876Met) c.*131C>A (n.*131C>A) c.2608C>A (p.Leu870Met) c.2545C>A (p.Leu849Met) | gnomAD v4 |
| 11 | g.47335989G>A | CA474214684 | MYBPC3 | c.2625C>T (p.His875=) c.*130C>T (n.*130C>T) c.2607C>T (p.His869=) c.2544C>T (p.His848=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47335989G>C | CA380317423 | MYBPC3 | c.2625C>G (p.His875Gln) c.*130C>G (n.*130C>G) c.2607C>G (p.His869Gln) c.2544C>G (p.His848Gln) | |
| 11 | g.47335989G= | CA1969338124 | MYBPC3 | c.2625C= (p.His875=) c.*130C= (n.*130C=) c.2607C= (p.His869=) c.2544C= (p.His848=) | |
| 11 | g.47335989G>T | CA380317424 | MYBPC3 | c.2625C>A (p.His875Gln) c.*130C>A (n.*130C>A) c.2607C>A (p.His869Gln) c.2544C>A (p.His848Gln) | gnomAD v4 |
| 11 | g.47335990del | CA2695213961 | MYBPC3 | c.2624del (p.His875ProfsTer4) c.*129del (n.*129del) c.2606del (p.His869ProfsTer4) c.2543del (p.His848ProfsTer4) | |
| 11 | g.47335990T>A | CA078881 | MYBPC3 | c.2624A>T (p.His875Leu) c.*129A>T (n.*129A>T) c.2606A>T (p.His869Leu) c.2543A>T (p.His848Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47335990T>C | CA380317426 | MYBPC3 | c.2624A>G (p.His875Arg) c.*129A>G (n.*129A>G) c.2606A>G (p.His869Arg) c.2543A>G (p.His848Arg) | ClinVar dbSNP |
| 11 | g.47335990T>G | CA380317425 | MYBPC3 | c.2624A>C (p.His875Pro) c.*129A>C (n.*129A>C) c.2606A>C (p.His869Pro) c.2543A>C (p.His848Pro) | |
| 11 | g.47335990T= | CA1969338128 | MYBPC3 | c.2624A= (p.His875=) c.*129A= (n.*129A=) c.2606A= (p.His869=) c.2543A= (p.His848=) | |
| 11 | g.47335991G>A | CA380317427 | MYBPC3 | c.2623C>T (p.His875Tyr) c.*128C>T (n.*128C>T) c.2605C>T (p.His869Tyr) c.2542C>T (p.His848Tyr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47335991G>C | CA380317428 | MYBPC3 | c.2623C>G (p.His875Asp) c.*128C>G (n.*128C>G) c.2605C>G (p.His869Asp) c.2542C>G (p.His848Asp) | |
| 11 | g.47335991G= | CA1969338132 | MYBPC3 | c.2623C= (p.His875=) c.*128C= (n.*128C=) c.2605C= (p.His869=) c.2542C= (p.His848=) | |
| 11 | g.47335991G>T | CA380317429 | MYBPC3 | c.2623C>A (p.His875Asn) c.*128C>A (n.*128C>A) c.2605C>A (p.His869Asn) c.2542C>A (p.His848Asn) | gnomAD v4 |
| 11 | g.47335992G>A | CA221685964 | MYBPC3 | c.2622C>T (p.Thr874=) c.*127C>T (n.*127C>T) c.2604C>T (p.Thr868=) c.2541C>T (p.Thr847=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47335992G>C | CA474214689 | MYBPC3 | c.2622C>G (p.Thr874=) c.*127C>G (n.*127C>G) c.2604C>G (p.Thr868=) c.2541C>G (p.Thr847=) | |
| 11 | g.47335992G= | CA1969338140 | MYBPC3 | c.2622C= (p.Thr874=) c.*127C= (n.*127C=) c.2604C= (p.Thr868=) c.2541C= (p.Thr847=) | |
| 11 | g.47335992G>T | CA10631016 | MYBPC3 | c.2622C>A (p.Thr874=) c.*127C>A (n.*127C>A) c.2604C>A (p.Thr868=) c.2541C>A (p.Thr847=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47335993G>A | CA050989 | MYBPC3 | c.2621C>T (p.Thr874Ile) c.*126C>T (n.*126C>T) c.2603C>T (p.Thr868Ile) c.2540C>T (p.Thr847Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47335993G>C | CA380317430 | MYBPC3 | c.2621C>G (p.Thr874Ser) c.*126C>G (n.*126C>G) c.2603C>G (p.Thr868Ser) c.2540C>G (p.Thr847Ser) | |
| 11 | g.47335993G= | CA1969338152 | MYBPC3 | c.2621C= (p.Thr874=) c.*126C= (n.*126C=) c.2603C= (p.Thr868=) c.2540C= (p.Thr847=) | |
| 11 | g.47335993G>T | CA380317431 | MYBPC3 | c.2621C>A (p.Thr874Asn) c.*126C>A (n.*126C>A) c.2603C>A (p.Thr868Asn) c.2540C>A (p.Thr847Asn) | ClinVar gnomAD v4 |
| 11 | g.47335994T>A | CA380317432 | MYBPC3 | c.2620A>T (p.Thr874Ser) c.*125A>T (n.*125A>T) c.2602A>T (p.Thr868Ser) c.2539A>T (p.Thr847Ser) | |
| 11 | g.47335994T>C | CA380317433 | MYBPC3 | c.2620A>G (p.Thr874Ala) c.*125A>G (n.*125A>G) c.2602A>G (p.Thr868Ala) c.2539A>G (p.Thr847Ala) | gnomAD v4 |
| 11 | g.47335994T>G | CA380317434 | MYBPC3 | c.2620A>C (p.Thr874Pro) c.*125A>C (n.*125A>C) c.2602A>C (p.Thr868Pro) c.2539A>C (p.Thr847Pro) | dbSNP |
| 11 | g.47335995G>A | CA474214693 | MYBPC3 | c.2619C>T (p.Pro873=) c.*124C>T (n.*124C>T) c.2601C>T (p.Pro867=) c.2538C>T (p.Pro846=) | ClinVar gnomAD v4 |
| 11 | g.47335995G>C | CA474214694 | MYBPC3 | c.2619C>G (p.Pro873=) c.*124C>G (n.*124C>G) c.2601C>G (p.Pro867=) c.2538C>G (p.Pro846=) | |
| 11 | g.47335995G>T | CA474214696 | MYBPC3 | c.2619C>A (p.Pro873=) c.*124C>A (n.*124C>A) c.2601C>A (p.Pro867=) c.2538C>A (p.Pro846=) | gnomAD v4 |
| 11 | g.47335997del | CA2613398181 | MYBPC3 | c.2619del (p.Thr874ProfsTer5) c.*124del (n.*124del) c.2601del (p.Thr868ProfsTer5) c.2538del (p.Thr847ProfsTer5) | gnomAD v4 |
| 11 | g.47335996G>A | CA012757 | MYBPC3 | c.2618C>T (p.Pro873Leu) c.*123C>T (n.*123C>T) c.2600C>T (p.Pro867Leu) c.2537C>T (p.Pro846Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47335996G>C | CA380317435 | MYBPC3 | c.2618C>G (p.Pro873Arg) c.*123C>G (n.*123C>G) c.2600C>G (p.Pro867Arg) c.2537C>G (p.Pro846Arg) | |
| 11 | g.47335996G= | CA1969338161 | MYBPC3 | c.2618C= (p.Pro873=) c.*123C= (n.*123C=) c.2600C= (p.Pro867=) c.2537C= (p.Pro846=) | |
| 11 | g.47335996G>T | CA012748 | MYBPC3 | c.2618C>A (p.Pro873His) c.*123C>A (n.*123C>A) c.2600C>A (p.Pro867His) c.2537C>A (p.Pro846His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47335997G>A | CA380317436 | MYBPC3 | c.2617C>T (p.Pro873Ser) c.*122C>T (n.*122C>T) c.2599C>T (p.Pro867Ser) c.2536C>T (p.Pro846Ser) | gnomAD v4 |
| 11 | g.47335997G>C | CA380317438 | MYBPC3 | c.2617C>G (p.Pro873Ala) c.*122C>G (n.*122C>G) c.2599C>G (p.Pro867Ala) c.2536C>G (p.Pro846Ala) | gnomAD v4 |
| 11 | g.47335997G>T | CA380317437 | MYBPC3 | c.2617C>A (p.Pro873Thr) c.*122C>A (n.*122C>A) c.2599C>A (p.Pro867Thr) c.2536C>A (p.Pro846Thr) | gnomAD v4 |
| 11 | g.47335998T>A | CA380317439 | MYBPC3 | c.2616A>T (p.Glu872Asp) c.*121A>T (n.*121A>T) c.2598A>T (p.Glu866Asp) c.2535A>T (p.Glu845Asp) | |
| 11 | g.47335998T>C | CA474214711 | MYBPC3 | c.2616A>G (p.Glu872=) c.*121A>G (n.*121A>G) c.2598A>G (p.Glu866=) c.2535A>G (p.Glu845=) | |
| 11 | g.47335998T>G | CA380317440 | MYBPC3 | c.2616A>C (p.Glu872Asp) c.*121A>C (n.*121A>C) c.2598A>C (p.Glu866Asp) c.2535A>C (p.Glu845Asp) | |
| 11 | g.47335999T>A | CA380317441 | MYBPC3 | c.2615A>T (p.Glu872Val) c.*120A>T (n.*120A>T) c.2597A>T (p.Glu866Val) c.2534A>T (p.Glu845Val) | gnomAD v4 |
| 11 | g.47335999T>C | CA380317442 | MYBPC3 | c.2615A>G (p.Glu872Gly) c.*120A>G (n.*120A>G) c.2597A>G (p.Glu866Gly) c.2534A>G (p.Glu845Gly) | |
| 11 | g.47335999T>G | CA380317443 | MYBPC3 | c.2615A>C (p.Glu872Ala) c.*120A>C (n.*120A>C) c.2597A>C (p.Glu866Ala) c.2534A>C (p.Glu845Ala) | |
| 11 | g.47336000C>A | CA380317444 | MYBPC3 | c.2614G>T (p.Glu872Ter) c.*119G>T (n.*119G>T) c.2596G>T (p.Glu866Ter) c.2533G>T (p.Glu845Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47336000C= | CA1969338175 | MYBPC3 | c.2614G= (p.Glu872=) c.*119G= (n.*119G=) c.2596G= (p.Glu866=) c.2533G= (p.Glu845=) | |
| 11 | g.47336000C>G | CA380317445 | MYBPC3 | c.2614G>C (p.Glu872Gln) c.*119G>C (n.*119G>C) c.2596G>C (p.Glu866Gln) c.2533G>C (p.Glu845Gln) | |
| 11 | g.47336000C>T | CA012739 | MYBPC3 | c.2614G>A (p.Glu872Lys) c.*119G>A (n.*119G>A) c.2596G>A (p.Glu866Lys) c.2533G>A (p.Glu845Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47336001G>A | CA078867 | MYBPC3 | c.2613C>T (p.Ser871=) c.*118C>T (n.*118C>T) c.2595C>T (p.Ser865=) c.2532C>T (p.Ser844=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47336001G>C | CA380317446 | MYBPC3 | c.2613C>G (p.Ser871Arg) c.*118C>G (n.*118C>G) c.2595C>G (p.Ser865Arg) c.2532C>G (p.Ser844Arg) | |
| 11 | g.47336001G= | CA1969338185 | MYBPC3 | c.2613C= (p.Ser871=) c.*118C= (n.*118C=) c.2595C= (p.Ser865=) c.2532C= (p.Ser844=) | |
| 11 | g.47336001G>T | CA380317447 | MYBPC3 | c.2613C>A (p.Ser871Arg) c.*118C>A (n.*118C>A) c.2595C>A (p.Ser865Arg) c.2532C>A (p.Ser844Arg) | gnomAD v4 |
| 11 | g.47336002C>A | CA380317450 | MYBPC3 | c.2612G>T (p.Ser871Ile) c.*117G>T (n.*117G>T) c.2594G>T (p.Ser865Ile) c.2531G>T (p.Ser844Ile) | gnomAD v4 |
| 11 | g.47336002C>G | CA380317449 | MYBPC3 | c.2612G>C (p.Ser871Thr) c.*117G>C (n.*117G>C) c.2594G>C (p.Ser865Thr) c.2531G>C (p.Ser844Thr) | |
| 11 | g.47336002C>T | CA380317448 | MYBPC3 | c.2612G>A (p.Ser871Asn) c.*117G>A (n.*117G>A) c.2594G>A (p.Ser865Asn) c.2531G>A (p.Ser844Asn) | gnomAD v4 |
| 11 | g.47336007_47336016del | CA2573146377 | MYBPC3 | c.2603_2612del c.*108_*117del c.2585_2594del c.2522_2531del | ClinVar |
| 11 | g.47336002_47336003insG | CA2573332628 | MYBPC3 | c.2611_2612insC (p.Ser871ThrfsTer13) c.*116_*117insC (n.*116_*117insC) c.2593_2594insC (p.Ser865ThrfsTer13) c.2530_2531insC (p.Ser844ThrfsTer13) | |
| 11 | g.47336003T>A | CA380317452 | MYBPC3 | c.2611A>T (p.Ser871Cys) c.*116A>T (n.*116A>T) c.2593A>T (p.Ser865Cys) c.2530A>T (p.Ser844Cys) | |
| 11 | g.47336003T>C | CA380317451 | MYBPC3 | c.2611A>G (p.Ser871Gly) c.*116A>G (n.*116A>G) c.2593A>G (p.Ser865Gly) c.2530A>G (p.Ser844Gly) | gnomAD v4 |
| 11 | g.47336003T>G | CA380317453 | MYBPC3 | c.2611A>C (p.Ser871Arg) c.*116A>C (n.*116A>C) c.2593A>C (p.Ser865Arg) c.2530A>C (p.Ser844Arg) | |
| 11 | g.47336003_47336004delinsTG | CA1969338189 | MYBPC3 | c.2610_2611delinsCA (p.Pro870=) c.*115_*116delinsCA (n.*115_*116delinsCA) c.2592_2593delinsCA (p.Pro864=) c.2529_2530delinsCA (p.Pro843=) | |
| 11 | g.47336004G>A | CA050865 | MYBPC3 | c.2610C>T (p.Pro870=) c.*115C>T (n.*115C>T) c.2592C>T (p.Pro864=) c.2529C>T (p.Pro843=) | |
| 11 | g.47336004G>C | CA474214736 | MYBPC3 | c.2610C>G (p.Pro870=) c.*115C>G (n.*115C>G) c.2592C>G (p.Pro864=) c.2529C>G (p.Pro843=) | |
| 11 | g.47336004G>T | CA474214738 | MYBPC3 | c.2610C>A (p.Pro870=) c.*115C>A (n.*115C>A) c.2592C>A (p.Pro864=) c.2529C>A (p.Pro843=) | gnomAD v4 |
| 11 | g.47336009dup | CA012705 | MYBPC3 | c.2610dup (p.Ser871GlnfsTer13) c.*115dup (n.*115dup) c.2592dup (p.Ser865GlnfsTer13) c.2529dup (p.Ser844GlnfsTer13) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47336009del | CA012712 | MYBPC3 | c.2610del (p.Ser871AlafsTer8) c.*115del (n.*115del) c.2592del (p.Ser865AlafsTer8) c.2529del (p.Ser844AlafsTer8) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47336005G>A | CA380317454 | MYBPC3 | c.2609C>T (p.Pro870Leu) c.*114C>T (n.*114C>T) c.2591C>T (p.Pro864Leu) c.2528C>T (p.Pro843Leu) | |
| 11 | g.47336005G>C | CA380317455 | MYBPC3 | c.2609C>G (p.Pro870Arg) c.*114C>G (n.*114C>G) c.2591C>G (p.Pro864Arg) c.2528C>G (p.Pro843Arg) | |
| 11 | g.47336005G>T | CA380317456 | MYBPC3 | c.2609C>A (p.Pro870His) c.*114C>A (n.*114C>A) c.2591C>A (p.Pro864His) c.2528C>A (p.Pro843His) | gnomAD v4 |
| 11 | g.47336006G>A | CA380317457 | MYBPC3 | c.2608C>T (p.Pro870Ser) c.*113C>T (n.*113C>T) c.2590C>T (p.Pro864Ser) c.2527C>T (p.Pro843Ser) | gnomAD v4 |
| 11 | g.47336006G>C | CA380317458 | MYBPC3 | c.2608C>G (p.Pro870Ala) c.*113C>G (n.*113C>G) c.2590C>G (p.Pro864Ala) c.2527C>G (p.Pro843Ala) | |
| 11 | g.47336006G>T | CA380317459 | MYBPC3 | c.2608C>A (p.Pro870Thr) c.*113C>A (n.*113C>A) c.2590C>A (p.Pro864Thr) c.2527C>A (p.Pro843Thr) | gnomAD v4 COSMIC COSMIC |
| 11 | g.47336007G>A | CA474214767 | MYBPC3 | c.2607C>T (p.Pro869=) c.*112C>T (n.*112C>T) c.2589C>T (p.Pro863=) c.2526C>T (p.Pro842=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47336007G>C | CA474214768 | MYBPC3 | c.2607C>G (p.Pro869=) c.*112C>G (n.*112C>G) c.2589C>G (p.Pro863=) c.2526C>G (p.Pro842=) | |
| 11 | g.47336007G= | CA1969338206 | MYBPC3 | c.2607C= (p.Pro869=) c.*112C= (n.*112C=) c.2589C= (p.Pro863=) c.2526C= (p.Pro842=) | |
| 11 | g.47336007G>T | CA474214770 | MYBPC3 | c.2607C>A (p.Pro869=) c.*112C>A (n.*112C>A) c.2589C>A (p.Pro863=) c.2526C>A (p.Pro842=) | gnomAD v4 |
| 11 | g.47336007_47336010del | CA2580084279 | MYBPC3 | c.2604_2607del (p.Pro870AlafsTer8) c.*109_*112del (n.*109_*112del) c.2586_2589del (p.Pro864AlafsTer8) c.2523_2526del (p.Pro843AlafsTer8) | ClinVar |
| 11 | g.47336008G>A | CA380317462 | MYBPC3 | c.2606C>T (p.Pro869Leu) c.*111C>T (n.*111C>T) c.2588C>T (p.Pro863Leu) c.2525C>T (p.Pro842Leu) | gnomAD v4 |
| 11 | g.47336008G>C | CA380317460 | MYBPC3 | c.2606C>G (p.Pro869Arg) c.*111C>G (n.*111C>G) c.2588C>G (p.Pro863Arg) c.2525C>G (p.Pro842Arg) | |
| 11 | g.47336008G>T | CA380317461 | MYBPC3 | c.2606C>A (p.Pro869His) c.*111C>A (n.*111C>A) c.2588C>A (p.Pro863His) c.2525C>A (p.Pro842His) | |
| 11 | g.47336008_47336010delinsGGA | CA1969338209 | MYBPC3 | c.2604_2606delinsTCC (p.Gly868=) c.*109_*111delinsTCC (n.*109_*111delinsTCC) c.2586_2588delinsTCC (p.Gly862=) c.2523_2525delinsTCC (p.Gly841=) | |
| 11 | g.47336009G>A | CA380317463 | MYBPC3 | c.2605C>T (p.Pro869Ser) c.*110C>T (n.*110C>T) c.2587C>T (p.Pro863Ser) c.2524C>T (p.Pro842Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47336009G>C | CA380317464 | MYBPC3 | c.2605C>G (p.Pro869Ala) c.*110C>G (n.*110C>G) c.2587C>G (p.Pro863Ala) c.2524C>G (p.Pro842Ala) | ClinVar |
| 11 | g.47336009G= | CA1969338217 | MYBPC3 | c.2605C= (p.Pro869=) c.*110C= (n.*110C=) c.2587C= (p.Pro863=) c.2524C= (p.Pro842=) | |
| 11 | g.47336009G>T | CA380317465 | MYBPC3 | c.2605C>A (p.Pro869Thr) c.*110C>A (n.*110C>A) c.2587C>A (p.Pro863Thr) c.2524C>A (p.Pro842Thr) | gnomAD v4 |
| 11 | g.47336009_47336010delinsT | CA012683 | MYBPC3 | c.2604_2605delinsA (p.Ser871AlafsTer8) c.*109_*110delinsA (n.*109_*110delinsA) c.2586_2587delinsA (p.Ser865AlafsTer8) c.2523_2524delinsA (p.Ser844AlafsTer8) | ClinVar dbSNP |
| 11 | g.47336009_47336010delinsGA | CA1969338215 | MYBPC3 | c.2604_2605delinsTC (p.Gly868=) c.*109_*110delinsTC (n.*109_*110delinsTC) c.2586_2587delinsTC (p.Gly862=) c.2523_2524delinsTC (p.Gly841=) | |
| 11 | g.47336009_47336010insT | CA658797622 | MYBPC3 | c.2604_2605insA (p.Pro869ThrfsTer15) c.*109_*110insA (n.*109_*110insA) c.2586_2587insA (p.Pro863ThrfsTer15) c.2523_2524insA (p.Pro842ThrfsTer15) | ClinVar dbSNP |
| 11 | g.47336010del | CA012697 | MYBPC3 | c.2604del (p.Ser871AlafsTer8) c.*109del (n.*109del) c.2586del (p.Ser865AlafsTer8) c.2523del (p.Ser844AlafsTer8) | ClinVar dbSNP |
| 11 | g.47336010A= | CA1969338227 | MYBPC3 | c.2604T= (p.Gly868=) c.*109T= (n.*109T=) c.2586T= (p.Gly862=) c.2523T= (p.Gly841=) | |
| 11 | g.47336010A>C | CA474214800 | MYBPC3 | c.2604T>G (p.Gly868=) c.*109T>G (n.*109T>G) c.2586T>G (p.Gly862=) c.2523T>G (p.Gly841=) | |
| 11 | g.47336010A>G | CA474214802 | MYBPC3 | c.2604T>C (p.Gly868=) c.*109T>C (n.*109T>C) c.2586T>C (p.Gly862=) c.2523T>C (p.Gly841=) | gnomAD v4 |
| 11 | g.47336010A>T | CA474214798 | MYBPC3 | c.2604T>A (p.Gly868=) c.*109T>A (n.*109T>A) c.2586T>A (p.Gly862=) c.2523T>A (p.Gly841=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47336011C>A | CA10639333 | MYBPC3 | c.2603G>T (p.Gly868Val) c.*108G>T (n.*108G>T) c.2585G>T (p.Gly862Val) c.2522G>T (p.Gly841Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47336011C= | CA1969338238 | MYBPC3 | c.2603G= (p.Gly868=) c.*108G= (n.*108G=) c.2585G= (p.Gly862=) c.2522G= (p.Gly841=) | |
| 11 | g.47336011C>G | CA380317467 | MYBPC3 | c.2603G>C (p.Gly868Ala) c.*108G>C (n.*108G>C) c.2585G>C (p.Gly862Ala) c.2522G>C (p.Gly841Ala) | |
| 11 | g.47336011C>T | CA380317466 | MYBPC3 | c.2603G>A (p.Gly868Asp) c.*108G>A (n.*108G>A) c.2585G>A (p.Gly862Asp) c.2522G>A (p.Gly841Asp) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47336012del | CA2739270419 | MYBPC3 | c.2603del c.*108del c.2585del c.2522del | ClinVar |
| 11 | g.47336012C>A | CA380317468 | MYBPC3 | c.2603-1G>T (n.2603-1G>T) c.*108-1G>T (n.*108-1G>T) c.2585-1G>T (n.2585-1G>T) c.2522-1G>T (n.2522-1G>T) | ClinVar gnomAD v4 |
| 11 | g.47336012C= | CA1969338246 | MYBPC3 | c.2603-1G= (n.2603-1G=) c.*108-1G= (n.*108-1G=) c.2585-1G= (n.2585-1G=) c.2522-1G= (n.2522-1G=) | |
| 11 | g.47336012C>G | CA16619337 | MYBPC3 | c.2603-1G>C (n.2603-1G>C) c.*108-1G>C (n.*108-1G>C) c.2585-1G>C (n.2585-1G>C) c.2522-1G>C (n.2522-1G>C) | ClinVar dbSNP |
| 11 | g.47336012C>T | CA380317469 | MYBPC3 | c.2603-1G>A (n.2603-1G>A) c.*108-1G>A (n.*108-1G>A) c.2585-1G>A (n.2585-1G>A) c.2522-1G>A (n.2522-1G>A) | ClinVar dbSNP |
| 11 | g.47336012_47336013delinsCT | CA1969338248 | MYBPC3 | c.2603-2_2603-1delinsAG (n.2603-2_2603-1delinsAG) c.*108-2_*108-1delinsAG (n.*108-2_*108-1delinsAG) c.2585-2_2585-1delinsAG (n.2585-2_2585-1delinsAG) c.2522-2_2522-1delinsAG (n.2522-2_2522-1delinsAG) | |
| 11 | g.47336012_47336013delinsTC | CA918872570 | MYBPC3 | c.2603-2_2603-1delinsGA (n.2603-2_2603-1delinsGA) c.*108-2_*108-1delinsGA (n.*108-2_*108-1delinsGA) c.2585-2_2585-1delinsGA (n.2585-2_2585-1delinsGA) c.2522-2_2522-1delinsGA (n.2522-2_2522-1delinsGA) | dbSNP |
| 11 | g.47336013T>A | CA380317470 | MYBPC3 | c.2603-2A>T (n.2603-2A>T) c.*108-2A>T (n.*108-2A>T) c.2585-2A>T (n.2585-2A>T) c.2522-2A>T (n.2522-2A>T) | dbSNP gnomAD v4 |
| 11 | g.47336013T>C | CA380317471 | MYBPC3 | c.2603-2A>G (n.2603-2A>G) c.*108-2A>G (n.*108-2A>G) c.2585-2A>G (n.2585-2A>G) c.2522-2A>G (n.2522-2A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47336013T>G | CA380317472 | MYBPC3 | c.2603-2A>C (n.2603-2A>C) c.*108-2A>C (n.*108-2A>C) c.2585-2A>C (n.2585-2A>C) c.2522-2A>C (n.2522-2A>C) | |
| 11 | g.47336013T= | CA1969338254 | MYBPC3 | c.2603-2A= (n.2603-2A=) c.*108-2A= (n.*108-2A=) c.2585-2A= (n.2585-2A=) c.2522-2A= (n.2522-2A=) | |
| 11 | g.47336014G>A | CA2613398278 | MYBPC3 | c.2603-3C>T (n.2603-3C>T) c.*108-3C>T (n.*108-3C>T) c.2585-3C>T (n.2585-3C>T) c.2522-3C>T (n.2522-3C>T) | gnomAD v4 |
| 11 | g.47336014G>C | CA2561592735 | MYBPC3 | c.2603-3C>G (n.2603-3C>G) c.*108-3C>G (n.*108-3C>G) c.2585-3C>G (n.2585-3C>G) c.2522-3C>G (n.2522-3C>G) | |
| 11 | g.47336014G>T | CA2613398276 | MYBPC3 | c.2603-3C>A (n.2603-3C>A) c.*108-3C>A (n.*108-3C>A) c.2585-3C>A (n.2585-3C>A) c.2522-3C>A (n.2522-3C>A) | gnomAD v4 |
| 11 | g.47336016del | CA2613398280 | MYBPC3 | c.2603-3del (n.2603-3del) c.*108-3del (n.*108-3del) c.2585-3del (n.2585-3del) c.2522-3del (n.2522-3del) | gnomAD v4 |
| 11 | g.47336015G= | CA1969338259 | MYBPC3 | c.2603-4C= (n.2603-4C=) c.*108-4C= (n.*108-4C=) c.2585-4C= (n.2585-4C=) c.2522-4C= (n.2522-4C=) | |
| 11 | g.47336015G>T | CA10639334 | MYBPC3 | c.2603-4C>A (n.2603-4C>A) c.*108-4C>A (n.*108-4C>A) c.2585-4C>A (n.2585-4C>A) c.2522-4C>A (n.2522-4C>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47336016G>A | CA599058150 | MYBPC3 | c.2603-5C>T (n.2603-5C>T) c.*108-5C>T (n.*108-5C>T) c.2585-5C>T (n.2585-5C>T) c.2522-5C>T (n.2522-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47336016G= | CA1969338263 | MYBPC3 | c.2603-5C= (n.2603-5C=) c.*108-5C= (n.*108-5C=) c.2585-5C= (n.2585-5C=) c.2522-5C= (n.2522-5C=) | |
| 11 | g.47336016G>T | CA078860 | MYBPC3 | c.2603-5C>A (n.2603-5C>A) c.*108-5C>A (n.*108-5C>A) c.2585-5C>A (n.2585-5C>A) c.2522-5C>A (n.2522-5C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47336017C>A | CA221686089 | MYBPC3 | c.2603-6G>T (n.2603-6G>T) c.*108-6G>T (n.*108-6G>T) c.2585-6G>T (n.2585-6G>T) c.2522-6G>T (n.2522-6G>T) | dbSNP gnomAD v4 |
| 11 | g.47336017C= | CA1969338268 | MYBPC3 | c.2603-6G= (n.2603-6G=) c.*108-6G= (n.*108-6G=) c.2585-6G= (n.2585-6G=) c.2522-6G= (n.2522-6G=) | |
| 11 | g.47336017C>T | CA2613398295 | MYBPC3 | c.2603-6G>A (n.2603-6G>A) c.*108-6G>A (n.*108-6G>A) c.2585-6G>A (n.2585-6G>A) c.2522-6G>A (n.2522-6G>A) | gnomAD v4 |
| 11 | g.47336018A>G | CA2613398303 | MYBPC3 | c.2603-7T>C (n.2603-7T>C) c.*108-7T>C (n.*108-7T>C) c.2585-7T>C (n.2585-7T>C) c.2522-7T>C (n.2522-7T>C) | gnomAD v4 |
| 11 | g.47336018A>T | CA2613398301 | MYBPC3 | c.2603-7T>A (n.2603-7T>A) c.*108-7T>A (n.*108-7T>A) c.2585-7T>A (n.2585-7T>A) c.2522-7T>A (n.2522-7T>A) | gnomAD v4 |
| 11 | g.47336019G>A | CA078862 | MYBPC3 | c.2603-8C>T (n.2603-8C>T) c.*108-8C>T (n.*108-8C>T) c.2585-8C>T (n.2585-8C>T) c.2522-8C>T (n.2522-8C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47336019G= | CA1969338273 | MYBPC3 | c.2603-8C= (n.2603-8C=) c.*108-8C= (n.*108-8C=) c.2585-8C= (n.2585-8C=) c.2522-8C= (n.2522-8C=) | |
| 11 | g.47336020A>G | CA2613398305 | MYBPC3 | c.2603-9T>C (n.2603-9T>C) c.*108-9T>C (n.*108-9T>C) c.2585-9T>C (n.2585-9T>C) c.2522-9T>C (n.2522-9T>C) | dbSNP gnomAD v4 |
| 11 | g.47336021G>A | CA078846 | MYBPC3 | c.2603-10C>T (n.2603-10C>T) c.*108-10C>T (n.*108-10C>T) c.2585-10C>T (n.2585-10C>T) c.2522-10C>T (n.2522-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47336021G>C | CA2613398309 | MYBPC3 | c.2603-10C>G (n.2603-10C>G) c.*108-10C>G (n.*108-10C>G) c.2585-10C>G (n.2585-10C>G) c.2522-10C>G (n.2522-10C>G) | gnomAD v4 |
| 11 | g.47336021G= | CA1969338277 | MYBPC3 | c.2603-10C= (n.2603-10C=) c.*108-10C= (n.*108-10C=) c.2585-10C= (n.2585-10C=) c.2522-10C= (n.2522-10C=) | |
| 11 | g.47336021G>T | CA2613398310 | MYBPC3 | c.2603-10C>A (n.2603-10C>A) c.*108-10C>A (n.*108-10C>A) c.2585-10C>A (n.2585-10C>A) c.2522-10C>A (n.2522-10C>A) | gnomAD v4 |
| 11 | g.47336022G>A | CA012681 | MYBPC3 | c.2603-11C>T (n.2603-11C>T) c.*108-11C>T (n.*108-11C>T) c.2585-11C>T (n.2585-11C>T) c.2522-11C>T (n.2522-11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47336022G= | CA1969338290 | MYBPC3 | c.2603-11C= (n.2603-11C=) c.*108-11C= (n.*108-11C=) c.2585-11C= (n.2585-11C=) c.2522-11C= (n.2522-11C=) | |
| 11 | g.47336022G>T | CA599058151 | MYBPC3 | c.2603-11C>A (n.2603-11C>A) c.*108-11C>A (n.*108-11C>A) c.2585-11C>A (n.2585-11C>A) c.2522-11C>A (n.2522-11C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47336023A>G | CA2613398316 | MYBPC3 | c.2603-12T>C (n.2603-12T>C) c.*108-12T>C (n.*108-12T>C) c.2585-12T>C (n.2585-12T>C) c.2522-12T>C (n.2522-12T>C) | gnomAD v4 |
| 11 | g.47336023A>T | CA2613398318 | MYBPC3 | c.2603-12T>A (n.2603-12T>A) c.*108-12T>A (n.*108-12T>A) c.2585-12T>A (n.2585-12T>A) c.2522-12T>A (n.2522-12T>A) | gnomAD v4 |
| 11 | g.47336024G>C | CA2613398319 | MYBPC3 | c.2603-13C>G (n.2603-13C>G) c.*108-13C>G (n.*108-13C>G) c.2585-13C>G (n.2585-13C>G) c.2522-13C>G (n.2522-13C>G) | gnomAD v4 |
| 11 | g.47336024G>T | CA2613398320 | MYBPC3 | c.2603-13C>A (n.2603-13C>A) c.*108-13C>A (n.*108-13C>A) c.2585-13C>A (n.2585-13C>A) c.2522-13C>A (n.2522-13C>A) | gnomAD v4 |
| 11 | g.47336025A>G | CA2613398322 | MYBPC3 | c.2603-14T>C (n.2603-14T>C) c.*108-14T>C (n.*108-14T>C) c.2585-14T>C (n.2585-14T>C) c.2522-14T>C (n.2522-14T>C) | gnomAD v4 |
| 11 | g.47336025A>T | CA2613398324 | MYBPC3 | c.2603-14T>A (n.2603-14T>A) c.*108-14T>A (n.*108-14T>A) c.2585-14T>A (n.2585-14T>A) c.2522-14T>A (n.2522-14T>A) | gnomAD v4 |
| 11 | g.47336026G>A | CA2574815902 | MYBPC3 | c.2603-15C>T (n.2603-15C>T) c.*108-15C>T (n.*108-15C>T) c.2585-15C>T (n.2585-15C>T) c.2522-15C>T (n.2522-15C>T) | gnomAD v4 |
| 11 | g.47336026G>T | CA2613398326 | MYBPC3 | c.2603-15C>A (n.2603-15C>A) c.*108-15C>A (n.*108-15C>A) c.2585-15C>A (n.2585-15C>A) c.2522-15C>A (n.2522-15C>A) | gnomAD v4 |
| 11 | g.47336027G>A | CA937667515 | MYBPC3 | c.2603-16C>T (n.2603-16C>T) c.*108-16C>T (n.*108-16C>T) c.2585-16C>T (n.2585-16C>T) c.2522-16C>T (n.2522-16C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47336027G= | CA1969338292 | MYBPC3 | c.2603-16C= (n.2603-16C=) c.*108-16C= (n.*108-16C=) c.2585-16C= (n.2585-16C=) c.2522-16C= (n.2522-16C=) | |
| 11 | g.47336027G>T | CA2613398329 | MYBPC3 | c.2603-16C>A (n.2603-16C>A) c.*108-16C>A (n.*108-16C>A) c.2585-16C>A (n.2585-16C>A) c.2522-16C>A (n.2522-16C>A) | gnomAD v4 |
| 11 | g.47336028T>A | CA1969338296 | MYBPC3 | c.2603-17A>T (n.2603-17A>T) c.*108-17A>T (n.*108-17A>T) c.2585-17A>T (n.2585-17A>T) c.2522-17A>T (n.2522-17A>T) | dbSNP |
| 11 | g.47336028T>C | CA2613398331 | MYBPC3 | c.2603-17A>G (n.2603-17A>G) c.*108-17A>G (n.*108-17A>G) c.2585-17A>G (n.2585-17A>G) c.2522-17A>G (n.2522-17A>G) | gnomAD v4 |
| 11 | g.47336028T>G | CA676993754 | MYBPC3 | c.2603-17A>C (n.2603-17A>C) c.*108-17A>C (n.*108-17A>C) c.2585-17A>C (n.2585-17A>C) c.2522-17A>C (n.2522-17A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47336028T= | CA1969338295 | MYBPC3 | c.2603-17A= (n.2603-17A=) c.*108-17A= (n.*108-17A=) c.2585-17A= (n.2585-17A=) c.2522-17A= (n.2522-17A=) | |
| 11 | g.47336029del | CA2613398334 | MYBPC3 | c.2603-18del (n.2603-18del) c.*108-18del (n.*108-18del) c.2585-18del (n.2585-18del) c.2522-18del (n.2522-18del) | gnomAD v4 |
| 11 | g.47336029C>A | CA2613398336 | MYBPC3 | c.2603-18G>T (n.2603-18G>T) c.*108-18G>T (n.*108-18G>T) c.2585-18G>T (n.2585-18G>T) c.2522-18G>T (n.2522-18G>T) | gnomAD v4 |
| 11 | g.47336029C= | CA1969338303 | MYBPC3 | c.2603-18G= (n.2603-18G=) c.*108-18G= (n.*108-18G=) c.2585-18G= (n.2585-18G=) c.2522-18G= (n.2522-18G=) | |
| 11 | g.47336029C>G | CA221686102 | MYBPC3 | c.2603-18G>C (n.2603-18G>C) c.*108-18G>C (n.*108-18G>C) c.2585-18G>C (n.2585-18G>C) c.2522-18G>C (n.2522-18G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47336029_47336031delinsCAG | CA1969338301 | MYBPC3 | c.2603-20_2603-18delinsCTG (n.2603-20_2603-18delinsCTG) c.*108-20_*108-18delinsCTG (n.*108-20_*108-18delinsCTG) c.2585-20_2585-18delinsCTG (n.2585-20_2585-18delinsCTG) c.2522-20_2522-18delinsCTG (n.2522-20_2522-18delinsCTG) | |
| 11 | g.47336030A>G | CA2613398345 | MYBPC3 | c.2603-19T>C (n.2603-19T>C) c.*108-19T>C (n.*108-19T>C) c.2585-19T>C (n.2585-19T>C) c.2522-19T>C (n.2522-19T>C) | gnomAD v4 |
| 11 | g.47336034_47336035del | CA078848 | MYBPC3 | c.2603-20_2603-19del (n.2603-20_2603-19del) c.*108-20_*108-19del (n.*108-20_*108-19del) c.2585-20_2585-19del (n.2585-20_2585-19del) c.2522-20_2522-19del (n.2522-20_2522-19del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47336031G>A | CA2613398351 | MYBPC3 | c.2603-20C>T (n.2603-20C>T) c.*108-20C>T (n.*108-20C>T) c.2585-20C>T (n.2585-20C>T) c.2522-20C>T (n.2522-20C>T) | gnomAD v4 |
| 11 | g.47336031G>C | CA1969338307 | MYBPC3 | c.2603-20C>G (n.2603-20C>G) c.*108-20C>G (n.*108-20C>G) c.2585-20C>G (n.2585-20C>G) c.2522-20C>G (n.2522-20C>G) | dbSNP |
| 11 | g.47336031G= | CA1969338309 | MYBPC3 | c.2603-20C= (n.2603-20C=) c.*108-20C= (n.*108-20C=) c.2585-20C= (n.2585-20C=) c.2522-20C= (n.2522-20C=) | |
| 11 | g.47336031G>T | CA2613398352 | MYBPC3 | c.2603-20C>A (n.2603-20C>A) c.*108-20C>A (n.*108-20C>A) c.2585-20C>A (n.2585-20C>A) c.2522-20C>A (n.2522-20C>A) | gnomAD v4 |
| 11 | g.47336032A>G | CA2613398353 | MYBPC3 | c.2603-21T>C (n.2603-21T>C) c.*108-21T>C (n.*108-21T>C) c.2585-21T>C (n.2585-21T>C) c.2522-21T>C (n.2522-21T>C) | gnomAD v4 |
| 11 | g.47336033G>A | CA599058152 | MYBPC3 | c.2603-22C>T (n.2603-22C>T) c.*108-22C>T (n.*108-22C>T) c.2585-22C>T (n.2585-22C>T) c.2522-22C>T (n.2522-22C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47336033G= | CA1969338310 | MYBPC3 | c.2603-22C= (n.2603-22C=) c.*108-22C= (n.*108-22C=) c.2585-22C= (n.2585-22C=) c.2522-22C= (n.2522-22C=) | |
| 11 | g.47336033G>T | CA2613398357 | MYBPC3 | c.2603-22C>A (n.2603-22C>A) c.*108-22C>A (n.*108-22C>A) c.2585-22C>A (n.2585-22C>A) c.2522-22C>A (n.2522-22C>A) | gnomAD v4 |
| 11 | g.47336034A>G | CA2574815903 | MYBPC3 | c.2603-23T>C (n.2603-23T>C) c.*108-23T>C (n.*108-23T>C) c.2585-23T>C (n.2585-23T>C) c.2522-23T>C (n.2522-23T>C) | gnomAD v4 |
| 11 | g.47336035G>A | CA2613398361 | MYBPC3 | c.2603-24C>T (n.2603-24C>T) c.*108-24C>T (n.*108-24C>T) c.2585-24C>T (n.2585-24C>T) c.2522-24C>T (n.2522-24C>T) | gnomAD v4 |
| 11 | g.47336035G>T | CA2613398359 | MYBPC3 | c.2603-24C>A (n.2603-24C>A) c.*108-24C>A (n.*108-24C>A) c.2585-24C>A (n.2585-24C>A) c.2522-24C>A (n.2522-24C>A) | gnomAD v4 |
| 11 | g.47336038del | CA2574815905 | MYBPC3 | c.2603-24del (n.2603-24del) c.*108-24del (n.*108-24del) c.2585-24del (n.2585-24del) c.2522-24del (n.2522-24del) | |
| 11 | g.47336036G>A | CA2613398364 | MYBPC3 | c.2603-25C>T (n.2603-25C>T) c.*108-25C>T (n.*108-25C>T) c.2585-25C>T (n.2585-25C>T) c.2522-25C>T (n.2522-25C>T) | gnomAD v4 |
| 11 | g.47336036G>C | CA078850 | MYBPC3 | c.2603-25C>G (n.2603-25C>G) c.*108-25C>G (n.*108-25C>G) c.2585-25C>G (n.2585-25C>G) c.2522-25C>G (n.2522-25C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47336036G= | CA1969338312 | MYBPC3 | c.2603-25C= (n.2603-25C=) c.*108-25C= (n.*108-25C=) c.2585-25C= (n.2585-25C=) c.2522-25C= (n.2522-25C=) | |
| 11 | g.47336036G>T | CA2613398366 | MYBPC3 | c.2603-25C>A (n.2603-25C>A) c.*108-25C>A (n.*108-25C>A) c.2585-25C>A (n.2585-25C>A) c.2522-25C>A (n.2522-25C>A) | gnomAD v4 |
| 11 | g.47336037G= | CA1969338315 | MYBPC3 | c.2603-26C= (n.2603-26C=) c.*108-26C= (n.*108-26C=) c.2585-26C= (n.2585-26C=) c.2522-26C= (n.2522-26C=) | |
| 11 | g.47336037G>T | CA937667516 | MYBPC3 | c.2603-26C>A (n.2603-26C>A) c.*108-26C>A (n.*108-26C>A) c.2585-26C>A (n.2585-26C>A) c.2522-26C>A (n.2522-26C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47336038G>A | CA599058153 | MYBPC3 | c.2603-27C>T (n.2603-27C>T) c.*108-27C>T (n.*108-27C>T) c.2585-27C>T (n.2585-27C>T) c.2522-27C>T (n.2522-27C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47336038G>C | CA2791331607 | MYBPC3 | c.2603-27C>G (n.2603-27C>G) c.*108-27C>G (n.*108-27C>G) c.2585-27C>G (n.2585-27C>G) c.2522-27C>G (n.2522-27C>G) | |
| 11 | g.47336038G= | CA1969338319 | MYBPC3 | c.2603-27C= (n.2603-27C=) c.*108-27C= (n.*108-27C=) c.2585-27C= (n.2585-27C=) c.2522-27C= (n.2522-27C=) | |
| 11 | g.47336038G>T | CA599058154 | MYBPC3 | c.2603-27C>A (n.2603-27C>A) c.*108-27C>A (n.*108-27C>A) c.2585-27C>A (n.2585-27C>A) c.2522-27C>A (n.2522-27C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47336039del | CA2791331608 | MYBPC3 | c.2603-28del (n.2603-28del) c.*108-28del (n.*108-28del) c.2585-28del (n.2585-28del) c.2522-28del (n.2522-28del) | |
| 11 | g.47336040C>A | CA2613398370 | MYBPC3 | c.2603-29G>T (n.2603-29G>T) c.*108-29G>T (n.*108-29G>T) c.2585-29G>T (n.2585-29G>T) c.2522-29G>T (n.2522-29G>T) | gnomAD v4 |
| 11 | g.47336040C>G | CA2613398371 | MYBPC3 | c.2603-29G>C (n.2603-29G>C) c.*108-29G>C (n.*108-29G>C) c.2585-29G>C (n.2585-29G>C) c.2522-29G>C (n.2522-29G>C) | gnomAD v4 |
| 11 | g.47336041T>C | CA2613398373 | MYBPC3 | c.2603-30A>G (n.2603-30A>G) c.*108-30A>G (n.*108-30A>G) c.2585-30A>G (n.2585-30A>G) c.2522-30A>G (n.2522-30A>G) | gnomAD v4 |
| 11 | g.47336042G>A | CA078852 | MYBPC3 | c.2603-31C>T (n.2603-31C>T) c.*108-31C>T (n.*108-31C>T) c.2585-31C>T (n.2585-31C>T) c.2522-31C>T (n.2522-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47336042G= | CA1969338323 | MYBPC3 | c.2603-31C= (n.2603-31C=) c.*108-31C= (n.*108-31C=) c.2585-31C= (n.2585-31C=) c.2522-31C= (n.2522-31C=) | |
| 11 | g.47336042G>T | CA676993763 | MYBPC3 | c.2603-31C>A (n.2603-31C>A) c.*108-31C>A (n.*108-31C>A) c.2585-31C>A (n.2585-31C>A) c.2522-31C>A (n.2522-31C>A) | dbSNP gnomAD v4 |