Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47337795_47338523dup | CA916081643 | MYBPC3 | c.2306_2309dup c.2288_2291dup c.2225_2228dup | |
11 | g.47338476del | CA2574816070 | MYBPC3 | c.2308+47del (n.2308+47del) c.2290+47del (n.2290+47del) c.2227+47del (n.2227+47del) | |
11 | g.47338476G>A | CA2613393270 | MYBPC3 | c.2308+44C>T (n.2308+44C>T) c.2290+44C>T (n.2290+44C>T) c.2227+44C>T (n.2227+44C>T) | gnomAD v4 |
11 | g.47338477del | CA2613393271 | MYBPC3 | c.2308+43del (n.2308+43del) c.2290+43del (n.2290+43del) c.2227+43del (n.2227+43del) | gnomAD v4 |
11 | g.47338478T>C | CA2569458293 | MYBPC3 | c.2308+42A>G (n.2308+42A>G) c.2290+42A>G (n.2290+42A>G) c.2227+42A>G (n.2227+42A>G) | |
11 | g.47338479G>A | CA2613393278 | MYBPC3 | c.2308+41C>T (n.2308+41C>T) c.2290+41C>T (n.2290+41C>T) c.2227+41C>T (n.2227+41C>T) | gnomAD v4 |
11 | g.47338479G= | CA1969332081 | MYBPC3 | c.2308+41C= (n.2308+41C=) c.2290+41C= (n.2290+41C=) c.2227+41C= (n.2227+41C=) | |
11 | g.47338479G>T | CA599374346 | MYBPC3 | c.2308+41C>A (n.2308+41C>A) c.2290+41C>A (n.2290+41C>A) c.2227+41C>A (n.2227+41C>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47338479dup | CA2613393277 | MYBPC3 | c.2308+41dup (n.2308+41dup) c.2290+41dup (n.2290+41dup) c.2227+41dup (n.2227+41dup) | gnomAD v4 |
11 | g.47338481C= | CA1969332083 | MYBPC3 | c.2308+39G= (n.2308+39G=) c.2290+39G= (n.2290+39G=) c.2227+39G= (n.2227+39G=) | |
11 | g.47338481C>T | CA078639 | MYBPC3 | c.2308+39G>A (n.2308+39G>A) c.2290+39G>A (n.2290+39G>A) c.2227+39G>A (n.2227+39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338483C= | CA1969332085 | MYBPC3 | c.2308+37G= (n.2308+37G=) c.2290+37G= (n.2290+37G=) c.2227+37G= (n.2227+37G=) | |
11 | g.47338483C>G | CA078638 | MYBPC3 | c.2308+37G>C (n.2308+37G>C) c.2290+37G>C (n.2290+37G>C) c.2227+37G>C (n.2227+37G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338483C>T | CA599374347 | MYBPC3 | c.2308+37G>A (n.2308+37G>A) c.2290+37G>A (n.2290+37G>A) c.2227+37G>A (n.2227+37G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47338484T>C | CA2613393291 | MYBPC3 | c.2308+36A>G (n.2308+36A>G) c.2290+36A>G (n.2290+36A>G) c.2227+36A>G (n.2227+36A>G) | gnomAD v4 |
11 | g.47338485C>A | CA221689678 | MYBPC3 | c.2308+35G>T (n.2308+35G>T) c.2290+35G>T (n.2290+35G>T) c.2227+35G>T (n.2227+35G>T) | dbSNP |
11 | g.47338485C= | CA1969332087 | MYBPC3 | c.2308+35G= (n.2308+35G=) c.2290+35G= (n.2290+35G=) c.2227+35G= (n.2227+35G=) | |
11 | g.47338485C>T | CA2613393293 | MYBPC3 | c.2308+35G>A (n.2308+35G>A) c.2290+35G>A (n.2290+35G>A) c.2227+35G>A (n.2227+35G>A) | gnomAD v4 |
11 | g.47338486T>C | CA2613393295 | MYBPC3 | c.2308+34A>G (n.2308+34A>G) c.2290+34A>G (n.2290+34A>G) c.2227+34A>G (n.2227+34A>G) | gnomAD v4 |
11 | g.47338489_47338490del | CA2791323006 | MYBPC3 | c.2308+33_2308+34del (n.2308+33_2308+34del) c.2290+33_2290+34del (n.2290+33_2290+34del) c.2227+33_2227+34del (n.2227+33_2227+34del) | |
11 | g.47338490T>C | CA2613393297 | MYBPC3 | c.2308+30A>G (n.2308+30A>G) c.2290+30A>G (n.2290+30A>G) c.2227+30A>G (n.2227+30A>G) | gnomAD v4 |
11 | g.47338492C>T | CA2613393298 | MYBPC3 | c.2308+28G>A (n.2308+28G>A) c.2290+28G>A (n.2290+28G>A) c.2227+28G>A (n.2227+28G>A) | gnomAD v4 |
11 | g.47338493T>G | CA1969332089 | MYBPC3 | c.2308+27A>C (n.2308+27A>C) c.2290+27A>C (n.2290+27A>C) c.2227+27A>C (n.2227+27A>C) | dbSNP |
11 | g.47338493T= | CA1969332088 | MYBPC3 | c.2308+27A= (n.2308+27A=) c.2290+27A= (n.2290+27A=) c.2227+27A= (n.2227+27A=) | |
11 | g.47338494C>A | CA078636 | MYBPC3 | c.2308+26G>T (n.2308+26G>T) c.2290+26G>T (n.2290+26G>T) c.2227+26G>T (n.2227+26G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47338494C= | CA1969332090 | MYBPC3 | c.2308+26G= (n.2308+26G=) c.2290+26G= (n.2290+26G=) c.2227+26G= (n.2227+26G=) | |
11 | g.47338496A= | CA1969332092 | MYBPC3 | c.2308+24T= (n.2308+24T=) c.2290+24T= (n.2290+24T=) c.2227+24T= (n.2227+24T=) | |
11 | g.47338496A>G | CA1969332093 | MYBPC3 | c.2308+24T>C (n.2308+24T>C) c.2290+24T>C (n.2290+24T>C) c.2227+24T>C (n.2227+24T>C) | dbSNP |
11 | g.47338497G>A | CA937669379 | MYBPC3 | c.2308+23C>T (n.2308+23C>T) c.2290+23C>T (n.2290+23C>T) c.2227+23C>T (n.2227+23C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47338497G= | CA1969332094 | MYBPC3 | c.2308+23C= (n.2308+23C=) c.2290+23C= (n.2290+23C=) c.2227+23C= (n.2227+23C=) | |
11 | g.47338497G>T | CA2791323007 | MYBPC3 | c.2308+23C>A (n.2308+23C>A) c.2290+23C>A (n.2290+23C>A) c.2227+23C>A (n.2227+23C>A) | |
11 | g.47338502_47338530del | CA2580084155 | MYBPC3 | c.2302_2308+22del c.2284_2290+22del c.2221_2227+22del | ClinVar |
11 | g.47338499T>C | CA2613393304 | MYBPC3 | c.2308+21A>G (n.2308+21A>G) c.2290+21A>G (n.2290+21A>G) c.2227+21A>G (n.2227+21A>G) | gnomAD v4 |
11 | g.47338500T>C | CA078634 | MYBPC3 | c.2308+20A>G (n.2308+20A>G) c.2290+20A>G (n.2290+20A>G) c.2227+20A>G (n.2227+20A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338500T= | CA1969332095 | MYBPC3 | c.2308+20A= (n.2308+20A=) c.2290+20A= (n.2290+20A=) c.2227+20A= (n.2227+20A=) | |
11 | g.47338501G>T | CA2574816074 | MYBPC3 | c.2308+19C>A (n.2308+19C>A) c.2290+19C>A (n.2290+19C>A) c.2227+19C>A (n.2227+19C>A) | |
11 | g.47338502G>A | CA474216949 | MYBPC3 | c.2308+18C>T (n.2308+18C>T) c.2290+18C>T (n.2290+18C>T) c.2227+18C>T (n.2227+18C>T) | |
11 | g.47338502G>C | CA011991 | MYBPC3 | c.2308+18C>G (n.2308+18C>G) c.2290+18C>G (n.2290+18C>G) c.2227+18C>G (n.2227+18C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338502G= | CA1969332098 | MYBPC3 | c.2308+18C= (n.2308+18C=) c.2290+18C= (n.2290+18C=) c.2227+18C= (n.2227+18C=) | |
11 | g.47338502G>T | CA2581005432 | MYBPC3 | c.2308+18C>A (n.2308+18C>A) c.2290+18C>A (n.2290+18C>A) c.2227+18C>A (n.2227+18C>A) | |
11 | g.47338503A= | CA1969332104 | MYBPC3 | c.2308+17T= (n.2308+17T=) c.2290+17T= (n.2290+17T=) c.2227+17T= (n.2227+17T=) | |
11 | g.47338503A>C | CA049175 | MYBPC3 | c.2308+17T>G (n.2308+17T>G) c.2290+17T>G (n.2290+17T>G) c.2227+17T>G (n.2227+17T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47338504C>A | CA078630 | MYBPC3 | c.2308+16G>T (n.2308+16G>T) c.2290+16G>T (n.2290+16G>T) c.2227+16G>T (n.2227+16G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47338504C= | CA1969332106 | MYBPC3 | c.2308+16G= (n.2308+16G=) c.2290+16G= (n.2290+16G=) c.2227+16G= (n.2227+16G=) | |
11 | g.47338504C>T | CA078629 | MYBPC3 | c.2308+16G>A (n.2308+16G>A) c.2290+16G>A (n.2290+16G>A) c.2227+16G>A (n.2227+16G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47338505C= | CA1969332109 | MYBPC3 | c.2308+15G= (n.2308+15G=) c.2290+15G= (n.2290+15G=) c.2227+15G= (n.2227+15G=) | |
11 | g.47338505C>G | CA2580084157 | MYBPC3 | c.2308+15G>C (n.2308+15G>C) c.2290+15G>C (n.2290+15G>C) c.2227+15G>C (n.2227+15G>C) | ClinVar |
11 | g.47338505C>T | CA937669393 | MYBPC3 | c.2308+15G>A (n.2308+15G>A) c.2290+15G>A (n.2290+15G>A) c.2227+15G>A (n.2227+15G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47338506C= | CA1969332111 | MYBPC3 | c.2308+14G= (n.2308+14G=) c.2290+14G= (n.2290+14G=) c.2227+14G= (n.2227+14G=) | |
11 | g.47338506C>T | CA1969332113 | MYBPC3 | c.2308+14G>A (n.2308+14G>A) c.2290+14G>A (n.2290+14G>A) c.2227+14G>A (n.2227+14G>A) | dbSNP |
11 | g.47338507C>A | CA049144 | MYBPC3 | c.2308+13G>T (n.2308+13G>T) c.2290+13G>T (n.2290+13G>T) c.2227+13G>T (n.2227+13G>T) | |
11 | g.47338507C= | CA1969332117 | MYBPC3 | c.2308+13G= (n.2308+13G=) c.2290+13G= (n.2290+13G=) c.2227+13G= (n.2227+13G=) | |
11 | g.47338507C>T | CA049138 | MYBPC3 | c.2308+13G>A (n.2308+13G>A) c.2290+13G>A (n.2290+13G>A) c.2227+13G>A (n.2227+13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338508G>A | CA011984 | MYBPC3 | c.2308+12C>T (n.2308+12C>T) c.2290+12C>T (n.2290+12C>T) c.2227+12C>T (n.2227+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338508G>C | CA2613393350 | MYBPC3 | c.2308+12C>G (n.2308+12C>G) c.2290+12C>G (n.2290+12C>G) c.2227+12C>G (n.2227+12C>G) | gnomAD v4 |
11 | g.47338508G= | CA1969332130 | MYBPC3 | c.2308+12C= (n.2308+12C=) c.2290+12C= (n.2290+12C=) c.2227+12C= (n.2227+12C=) | |
11 | g.47338509dup | CA5975366 | MYBPC3 | c.2308+12dup (n.2308+12dup) c.2290+12dup (n.2290+12dup) c.2227+12dup (n.2227+12dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338509G>A | CA2613393353 | MYBPC3 | c.2308+11C>T (n.2308+11C>T) c.2290+11C>T (n.2290+11C>T) c.2227+11C>T (n.2227+11C>T) | gnomAD v4 |
11 | g.47338510C>T | CA049125 | MYBPC3 | c.2308+10G>A (n.2308+10G>A) c.2290+10G>A (n.2290+10G>A) c.2227+10G>A (n.2227+10G>A) | gnomAD v4 |
11 | g.47338511C= | CA1969332133 | MYBPC3 | c.2308+9G= (n.2308+9G=) c.2290+9G= (n.2290+9G=) c.2227+9G= (n.2227+9G=) | |
11 | g.47338511C>T | CA078644 | MYBPC3 | c.2308+9G>A (n.2308+9G>A) c.2290+9G>A (n.2290+9G>A) c.2227+9G>A (n.2227+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338512G>A | CA078643 | MYBPC3 | c.2308+8C>T (n.2308+8C>T) c.2290+8C>T (n.2290+8C>T) c.2227+8C>T (n.2227+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338512G>C | CA2574816082 | MYBPC3 | c.2308+8C>G (n.2308+8C>G) c.2290+8C>G (n.2290+8C>G) c.2227+8C>G (n.2227+8C>G) | gnomAD v4 |
11 | g.47338512G= | CA1969332138 | MYBPC3 | c.2308+8C= (n.2308+8C=) c.2290+8C= (n.2290+8C=) c.2227+8C= (n.2227+8C=) | |
11 | g.47338514C= | CA1969332142 | MYBPC3 | c.2308+6G= (n.2308+6G=) c.2290+6G= (n.2290+6G=) c.2227+6G= (n.2227+6G=) | |
11 | g.47338514C>G | CA2613393373 | MYBPC3 | c.2308+6G>C (n.2308+6G>C) c.2290+6G>C (n.2290+6G>C) c.2227+6G>C (n.2227+6G>C) | gnomAD v4 |
11 | g.47338514C>T | CA049236 | MYBPC3 | c.2308+6G>A (n.2308+6G>A) c.2290+6G>A (n.2290+6G>A) c.2227+6G>A (n.2227+6G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47338515C>T | CA2695212764 | MYBPC3 | c.2308+5G>A (n.2308+5G>A) c.2290+5G>A (n.2290+5G>A) c.2227+5G>A (n.2227+5G>A) | |
11 | g.47338516_47338537delinsTCACCGATGACCTTGACTGTGA | CA1969332144 | MYBPC3 | c.2291_2308+4delinsTCACAGTCAAGGTCATCGGTGA c.2273_2290+4delinsTCACAGTCAAGGTCATCGGTGA c.2210_2227+4delinsTCACAGTCAAGGTCATCGGTGA | |
11 | g.47338517C= | CA1969332151 | MYBPC3 | c.2308+3G= (n.2308+3G=) c.2290+3G= (n.2290+3G=) c.2227+3G= (n.2227+3G=) | |
11 | g.47338517C>G | CA2695212765 | MYBPC3 | c.2308+3G>C (n.2308+3G>C) c.2290+3G>C (n.2290+3G>C) c.2227+3G>C (n.2227+3G>C) | |
11 | g.47338517C>T | CA078641 | MYBPC3 | c.2308+3G>A (n.2308+3G>A) c.2290+3G>A (n.2290+3G>A) c.2227+3G>A (n.2227+3G>A) | dbSNP ExAC gnomAD v2 |
11 | g.47338517_47338524delinsCACCGATG | CA1969332157 | MYBPC3 | c.2304_2308+3delinsCATCGGTG c.2286_2290+3delinsCATCGGTG c.2223_2227+3delinsCATCGGTG | |
11 | g.47338517_47338537del | CA1969332149 | MYBPC3 | c.2291_2308+3del c.2273_2290+3del c.2210_2227+3del | ClinVar dbSNP |
11 | g.47338518A= | CA1969332165 | MYBPC3 | c.2308+2T= (n.2308+2T=) c.2290+2T= (n.2290+2T=) c.2227+2T= (n.2227+2T=) | |
11 | g.47338518A>C | CA380320134 | MYBPC3 | c.2308+2T>G (n.2308+2T>G) c.2290+2T>G (n.2290+2T>G) c.2227+2T>G (n.2227+2T>G) | |
11 | g.47338518A>G | CA221689780 | MYBPC3 | c.2308+2T>C (n.2308+2T>C) c.2290+2T>C (n.2290+2T>C) c.2227+2T>C (n.2227+2T>C) | dbSNP |
11 | g.47338518A>T | CA221689787 | MYBPC3 | c.2308+2T>A (n.2308+2T>A) c.2290+2T>A (n.2290+2T>A) c.2227+2T>A (n.2227+2T>A) | dbSNP |
11 | g.47338521_47338527del | CA676996046 | MYBPC3 | c.2304_2308+2del c.2286_2290+2del c.2223_2227+2del | dbSNP gnomAD v4 |
11 | g.47338519C>A | CA012008 | MYBPC3 | c.2308+1G>T (n.2308+1G>T) c.2290+1G>T (n.2290+1G>T) c.2227+1G>T (n.2227+1G>T) | ClinVar dbSNP gnomAD v4 |
11 | g.47338519C= | CA1969332171 | MYBPC3 | c.2308+1G= (n.2308+1G=) c.2290+1G= (n.2290+1G=) c.2227+1G= (n.2227+1G=) | |
11 | g.47338519C>G | CA221689791 | MYBPC3 | c.2308+1G>C (n.2308+1G>C) c.2290+1G>C (n.2290+1G>C) c.2227+1G>C (n.2227+1G>C) | dbSNP |
11 | g.47338519C>T | CA011996 | MYBPC3 | c.2308+1G>A (n.2308+1G>A) c.2290+1G>A (n.2290+1G>A) c.2227+1G>A (n.2227+1G>A) | ClinVar dbSNP |
11 | g.47338520C>A | CA380320135 | MYBPC3 | c.2308G>T (p.Asp770Tyr) c.2290G>T (p.Asp764Tyr) c.2227G>T (p.Asp743Tyr) | |
11 | g.47338520C= | CA1969332182 | MYBPC3 | c.2308G= (p.Asp770=) c.2290G= (p.Asp764=) c.2227G= (p.Asp743=) | |
11 | g.47338520C>G | CA16613585 | MYBPC3 | c.2308G>C (p.Asp770His) c.2290G>C (p.Asp764His) c.2227G>C (p.Asp743His) | ClinVar dbSNP |
11 | g.47338520C>T | CA012015 | MYBPC3 | c.2308G>A (p.Asp770Asn) c.2290G>A (p.Asp764Asn) c.2227G>A (p.Asp743Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47338520_47338523dup | CA891842474 | MYBPC3 | c.2305_2308dup (p.Val771ArgfsTer?) c.2287_2290dup (p.Val765ArgfsTer?) c.2224_2227dup (p.Val744ArgfsTer?) | ClinVar dbSNP |
11 | g.47338521G>A | CA078624 | MYBPC3 | c.2307C>T (p.Ile769=) c.2289C>T (p.Ile763=) c.2226C>T (p.Ile742=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338521G>C | CA380320136 | MYBPC3 | c.2307C>G (p.Ile769Met) c.2289C>G (p.Ile763Met) c.2226C>G (p.Ile742Met) | |
11 | g.47338521G= | CA1969332187 | MYBPC3 | c.2307C= (p.Ile769=) c.2289C= (p.Ile763=) c.2226C= (p.Ile742=) | |
11 | g.47338521G>T | CA474216951 | MYBPC3 | c.2307C>A (p.Ile769=) c.2289C>A (p.Ile763=) c.2226C>A (p.Ile742=) | gnomAD v4 |
11 | g.47338522del | CA2573131739 | MYBPC3 | c.2306del (p.Ile769ThrfsTer?) c.2288del (p.Ile763ThrfsTer?) c.2225del (p.Ile742ThrfsTer?) | |
11 | g.47338522A>C | CA380320137 | MYBPC3 | c.2306T>G (p.Ile769Ser) c.2288T>G (p.Ile763Ser) c.2225T>G (p.Ile742Ser) | |
11 | g.47338522A>G | CA380320138 | MYBPC3 | c.2306T>C (p.Ile769Thr) c.2288T>C (p.Ile763Thr) c.2225T>C (p.Ile742Thr) | |
11 | g.47338522A>T | CA380320139 | MYBPC3 | c.2306T>A (p.Ile769Asn) c.2288T>A (p.Ile763Asn) c.2225T>A (p.Ile742Asn) | |
11 | g.47338523T>A | CA380320140 | MYBPC3 | c.2305A>T (p.Ile769Phe) c.2287A>T (p.Ile763Phe) c.2224A>T (p.Ile742Phe) | |
11 | g.47338523T>C | CA380320141 | MYBPC3 | c.2305A>G (p.Ile769Val) c.2287A>G (p.Ile763Val) c.2224A>G (p.Ile742Val) | |
11 | g.47338523T>G | CA380320142 | MYBPC3 | c.2305A>C (p.Ile769Leu) c.2287A>C (p.Ile763Leu) c.2224A>C (p.Ile742Leu) | |
11 | g.47338524G>A | CA049095 | MYBPC3 | c.2304C>T (p.Val768=) c.2286C>T (p.Val762=) c.2223C>T (p.Val741=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47338524G>C | CA474216953 | MYBPC3 | c.2304C>G (p.Val768=) c.2286C>G (p.Val762=) c.2223C>G (p.Val741=) | |
11 | g.47338524G= | CA1969332190 | MYBPC3 | c.2304C= (p.Val768=) c.2286C= (p.Val762=) c.2223C= (p.Val741=) | |
11 | g.47338524G>T | CA474216954 | MYBPC3 | c.2304C>A (p.Val768=) c.2286C>A (p.Val762=) c.2223C>A (p.Val741=) | |
11 | g.47338525A>C | CA380320143 | MYBPC3 | c.2303T>G (p.Val768Gly) c.2285T>G (p.Val762Gly) c.2222T>G (p.Val741Gly) | |
11 | g.47338525A>G | CA380320144 | MYBPC3 | c.2303T>C (p.Val768Ala) c.2285T>C (p.Val762Ala) c.2222T>C (p.Val741Ala) | |
11 | g.47338525A>T | CA380320145 | MYBPC3 | c.2303T>A (p.Val768Asp) c.2285T>A (p.Val762Asp) c.2222T>A (p.Val741Asp) | |
11 | g.47338526C>A | CA380320146 | MYBPC3 | c.2302G>T (p.Val768Phe) c.2284G>T (p.Val762Phe) c.2221G>T (p.Val741Phe) | |
11 | g.47338526C>G | CA380320148 | MYBPC3 | c.2302G>C (p.Val768Leu) c.2284G>C (p.Val762Leu) c.2221G>C (p.Val741Leu) | |
11 | g.47338526C>T | CA380320147 | MYBPC3 | c.2302G>A (p.Val768Ile) c.2284G>A (p.Val762Ile) c.2221G>A (p.Val741Ile) | |
11 | g.47338527C>A | CA380320149 | MYBPC3 | c.2301G>T (p.Lys767Asn) c.2283G>T (p.Lys761Asn) c.2220G>T (p.Lys740Asn) | |
11 | g.47338527C= | CA1969332193 | MYBPC3 | c.2301G= (p.Lys767=) c.2283G= (p.Lys761=) c.2220G= (p.Lys740=) | |
11 | g.47338527C>G | CA380320150 | MYBPC3 | c.2301G>C (p.Lys767Asn) c.2283G>C (p.Lys761Asn) c.2220G>C (p.Lys740Asn) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47338527C>T | CA474216957 | MYBPC3 | c.2301G>A (p.Lys767=) c.2283G>A (p.Lys761=) c.2220G>A (p.Lys740=) | |
11 | g.47338528T>A | CA380320151 | MYBPC3 | c.2300A>T (p.Lys767Met) c.2282A>T (p.Lys761Met) c.2219A>T (p.Lys740Met) | |
11 | g.47338528T>C | CA078622 | MYBPC3 | c.2300A>G (p.Lys767Arg) c.2282A>G (p.Lys761Arg) c.2219A>G (p.Lys740Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338528T>G | CA380320152 | MYBPC3 | c.2300A>C (p.Lys767Thr) c.2282A>C (p.Lys761Thr) c.2219A>C (p.Lys740Thr) | |
11 | g.47338528T= | CA1969332199 | MYBPC3 | c.2300A= (p.Lys767=) c.2282A= (p.Lys761=) c.2219A= (p.Lys740=) | |
11 | g.47338529T>A | CA380320153 | MYBPC3 | c.2299A>T (p.Lys767Ter) c.2281A>T (p.Lys761Ter) c.2218A>T (p.Lys740Ter) | |
11 | g.47338529T>C | CA380320154 | MYBPC3 | c.2299A>G (p.Lys767Glu) c.2281A>G (p.Lys761Glu) c.2218A>G (p.Lys740Glu) | gnomAD v4 |
11 | g.47338529T>G | CA380320155 | MYBPC3 | c.2299A>C (p.Lys767Gln) c.2281A>C (p.Lys761Gln) c.2218A>C (p.Lys740Gln) | |
11 | g.47338530G>A | CA474216958 | MYBPC3 | c.2298C>T (p.Val766=) c.2280C>T (p.Val760=) c.2217C>T (p.Val739=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47338530G>C | CA474216959 | MYBPC3 | c.2298C>G (p.Val766=) c.2280C>G (p.Val760=) c.2217C>G (p.Val739=) | dbSNP |
11 | g.47338530G= | CA1969332205 | MYBPC3 | c.2298C= (p.Val766=) c.2280C= (p.Val760=) c.2217C= (p.Val739=) | |
11 | g.47338530G>T | CA474216960 | MYBPC3 | c.2298C>A (p.Val766=) c.2280C>A (p.Val760=) c.2217C>A (p.Val739=) | |
11 | g.47338531A>C | CA380320156 | MYBPC3 | c.2297T>G (p.Val766Gly) c.2279T>G (p.Val760Gly) c.2216T>G (p.Val739Gly) | |
11 | g.47338531A>G | CA380320157 | MYBPC3 | c.2297T>C (p.Val766Ala) c.2279T>C (p.Val760Ala) c.2216T>C (p.Val739Ala) | |
11 | g.47338531A>T | CA380320158 | MYBPC3 | c.2297T>A (p.Val766Asp) c.2279T>A (p.Val760Asp) c.2216T>A (p.Val739Asp) | |
11 | g.47338532C>A | CA380320159 | MYBPC3 | c.2296G>T (p.Val766Phe) c.2278G>T (p.Val760Phe) c.2215G>T (p.Val739Phe) | |
11 | g.47338532C= | CA1969332208 | MYBPC3 | c.2296G= (p.Val766=) c.2278G= (p.Val760=) c.2215G= (p.Val739=) | |
11 | g.47338532C>G | CA380320160 | MYBPC3 | c.2296G>C (p.Val766Leu) c.2278G>C (p.Val760Leu) c.2215G>C (p.Val739Leu) | |
11 | g.47338532C>T | CA380320161 | MYBPC3 | c.2296G>A (p.Val766Ile) c.2278G>A (p.Val760Ile) c.2215G>A (p.Val739Ile) | dbSNP |
11 | g.47338532_47338533insCGAATA | CA2503907703 | MYBPC3 | c.2295_2296insTATTCG (p.Thr765_Val766insTyrSer) c.2277_2278insTATTCG (p.Thr759_Val760insTyrSer) c.2214_2215insTATTCG (p.Thr738_Val739insTyrSer) | |
11 | g.47338533T>A | CA078619 | MYBPC3 | c.2295A>T (p.Thr765=) c.2277A>T (p.Thr759=) c.2214A>T (p.Thr738=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47338533T>C | CA474216961 | MYBPC3 | c.2295A>G (p.Thr765=) c.2277A>G (p.Thr759=) c.2214A>G (p.Thr738=) | |
11 | g.47338533T>G | CA474216962 | MYBPC3 | c.2295A>C (p.Thr765=) c.2277A>C (p.Thr759=) c.2214A>C (p.Thr738=) | |
11 | g.47338533T= | CA1969332212 | MYBPC3 | c.2295A= (p.Thr765=) c.2277A= (p.Thr759=) c.2214A= (p.Thr738=) | |
11 | g.47338535_47338536del | CA2580615673 | MYBPC3 | c.2294_2295del (p.Thr765SerfsTer?) c.2276_2277del (p.Thr759SerfsTer?) c.2213_2214del (p.Thr738SerfsTer?) | ClinVar dbSNP |
11 | g.47338534G>A | CA380320162 | MYBPC3 | c.2294C>T (p.Thr765Ile) c.2276C>T (p.Thr759Ile) c.2213C>T (p.Thr738Ile) | dbSNP |
11 | g.47338534G>C | CA380320163 | MYBPC3 | c.2294C>G (p.Thr765Arg) c.2276C>G (p.Thr759Arg) c.2213C>G (p.Thr738Arg) | |
11 | g.47338534G= | CA1969332213 | MYBPC3 | c.2294C= (p.Thr765=) c.2276C= (p.Thr759=) c.2213C= (p.Thr738=) | |
11 | g.47338534G>T | CA380320164 | MYBPC3 | c.2294C>A (p.Thr765Lys) c.2276C>A (p.Thr759Lys) c.2213C>A (p.Thr738Lys) | |
11 | g.47338534_47338535insCGAT | CA2564468281 | MYBPC3 | c.2293_2294insATCG (p.Thr765AsnfsTer?) c.2275_2276insATCG (p.Thr759AsnfsTer?) c.2212_2213insATCG (p.Thr738AsnfsTer?) | |
11 | g.47338534_47338535insAATATGCGATAGCCAGGAATACGCCGCTCGCAAATGCCATGGTTAGATCGCCCGCTGACTGTGTCAACTTAGCCATCACCATCATCGCAGCCATGATTAGCATGGTCGCGATGGTGCCATTT | CA2503405296 | MYBPC3 | c.2293_2294insAAATGGCACCATCGCGACCATGCTAATCATGGCTGCGATGATGGTGATGGCTAAGTTGACACAGTCAGCGGGCGATCTAACCATGGCATTTGCGAGCGGCGTATTCCTGGCTATCGCATATT (p.Thr765LysfsTer9) c.2275_2276insAAATGGCACCATCGCGACCATGCTAATCATGGCTGCGATGATGGTGATGGCTAAGTTGACACAGTCAGCGGGCGATCTAACCATGGCATTTGCGAGCGGCGTATTCCTGGCTATCGCATATT (p.Thr759LysfsTer9) c.2212_2213insAAATGGCACCATCGCGACCATGCTAATCATGGCTGCGATGATGGTGATGGCTAAGTTGACACAGTCAGCGGGCGATCTAACCATGGCATTTGCGAGCGGCGTATTCCTGGCTATCGCATATT (p.Thr738LysfsTer9) | |
11 | g.47338535T>A | CA380320165 | MYBPC3 | c.2293A>T (p.Thr765Ser) c.2275A>T (p.Thr759Ser) c.2212A>T (p.Thr738Ser) | |
11 | g.47338535T>C | CA380320166 | MYBPC3 | c.2293A>G (p.Thr765Ala) c.2275A>G (p.Thr759Ala) c.2212A>G (p.Thr738Ala) | |
11 | g.47338535T>G | CA380320167 | MYBPC3 | c.2293A>C (p.Thr765Pro) c.2275A>C (p.Thr759Pro) c.2212A>C (p.Thr738Pro) | gnomAD v4 |
11 | g.47338536G>A | CA474216965 | MYBPC3 | c.2292C>T (p.Leu764=) c.2274C>T (p.Leu758=) c.2211C>T (p.Leu737=) | |
11 | g.47338536G>C | CA474216964 | MYBPC3 | c.2292C>G (p.Leu764=) c.2274C>G (p.Leu758=) c.2211C>G (p.Leu737=) | |
11 | g.47338536G>T | CA474216963 | MYBPC3 | c.2292C>A (p.Leu764=) c.2274C>A (p.Leu758=) c.2211C>A (p.Leu737=) | |
11 | g.47338536_47338537insCCAGGAACACTCCACTTGCAAATGCCGTGGTT | CA2517188359 | MYBPC3 | c.2291_2292insAACCACGGCATTTGCAAGTGGAGTGTTCCTGG (p.Val766ThrfsTer?) c.2273_2274insAACCACGGCATTTGCAAGTGGAGTGTTCCTGG (p.Val760ThrfsTer?) c.2210_2211insAACCACGGCATTTGCAAGTGGAGTGTTCCTGG (p.Val739ThrfsTer?) | |
11 | g.47338537A>C | CA380320168 | MYBPC3 | c.2291T>G (p.Leu764Arg) c.2273T>G (p.Leu758Arg) c.2210T>G (p.Leu737Arg) | ClinVar dbSNP |
11 | g.47338537A>G | CA380320169 | MYBPC3 | c.2291T>C (p.Leu764Pro) c.2273T>C (p.Leu758Pro) c.2210T>C (p.Leu737Pro) | |
11 | g.47338537A>T | CA380320170 | MYBPC3 | c.2291T>A (p.Leu764His) c.2273T>A (p.Leu758His) c.2210T>A (p.Leu737His) | |
11 | g.47338538G>A | CA380320171 | MYBPC3 | c.2290C>T (p.Leu764Phe) c.2272C>T (p.Leu758Phe) c.2209C>T (p.Leu737Phe) | dbSNP gnomAD v4 |
11 | g.47338538G>C | CA380320172 | MYBPC3 | c.2290C>G (p.Leu764Val) c.2272C>G (p.Leu758Val) c.2209C>G (p.Leu737Val) | ClinVar dbSNP gnomAD v4 |
11 | g.47338538G= | CA1969332215 | MYBPC3 | c.2290C= (p.Leu764=) c.2272C= (p.Leu758=) c.2209C= (p.Leu737=) | |
11 | g.47338538G>T | CA380320173 | MYBPC3 | c.2290C>A (p.Leu764Ile) c.2272C>A (p.Leu758Ile) c.2209C>A (p.Leu737Ile) | |
11 | g.47338539G>A | CA078616 | MYBPC3 | c.2289C>T (p.Asn763=) c.2271C>T (p.Asn757=) c.2208C>T (p.Asn736=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47338539G>C | CA380320175 | MYBPC3 | c.2289C>G (p.Asn763Lys) c.2271C>G (p.Asn757Lys) c.2208C>G (p.Asn736Lys) | |
11 | g.47338539G= | CA1969332218 | MYBPC3 | c.2289C= (p.Asn763=) c.2271C= (p.Asn757=) c.2208C= (p.Asn736=) | |
11 | g.47338539G>T | CA380320174 | MYBPC3 | c.2289C>A (p.Asn763Lys) c.2271C>A (p.Asn757Lys) c.2208C>A (p.Asn736Lys) | gnomAD v4 |
11 | g.47338540T>A | CA380320176 | MYBPC3 | c.2288A>T (p.Asn763Ile) c.2270A>T (p.Asn757Ile) c.2207A>T (p.Asn736Ile) | |
11 | g.47338540T>C | CA011974 | MYBPC3 | c.2288A>G (p.Asn763Ser) c.2270A>G (p.Asn757Ser) c.2207A>G (p.Asn736Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.47338540T>G | CA380320177 | MYBPC3 | c.2288A>C (p.Asn763Thr) c.2270A>C (p.Asn757Thr) c.2207A>C (p.Asn736Thr) | |
11 | g.47338540T= | CA1969332225 | MYBPC3 | c.2288A= (p.Asn763=) c.2270A= (p.Asn757=) c.2207A= (p.Asn736=) | |
11 | g.47338540_47338541insCGCCGGCCGACTGCGTCAACTTAGCCATAACCATCATCGCAGCCATGATAAGCATGGTAGCAATGGTGCCATTTTGAAGC | CA2525265294 | MYBPC3 | c.2287_2288insGCTTCAAAATGGCACCATTGCTACCATGCTTATCATGGCTGCGATGATGGTTATGGCTAAGTTGACGCAGTCGGCCGGCG (p.Asn763SerfsTer16) c.2269_2270insGCTTCAAAATGGCACCATTGCTACCATGCTTATCATGGCTGCGATGATGGTTATGGCTAAGTTGACGCAGTCGGCCGGCG (p.Asn757SerfsTer16) c.2206_2207insGCTTCAAAATGGCACCATTGCTACCATGCTTATCATGGCTGCGATGATGGTTATGGCTAAGTTGACGCAGTCGGCCGGCG (p.Asn736SerfsTer16) | |
11 | g.47338541T>A | CA380320178 | MYBPC3 | c.2287A>T (p.Asn763Tyr) c.2269A>T (p.Asn757Tyr) c.2206A>T (p.Asn736Tyr) | |
11 | g.47338541T>C | CA380320179 | MYBPC3 | c.2287A>G (p.Asn763Asp) c.2269A>G (p.Asn757Asp) c.2206A>G (p.Asn736Asp) | |
11 | g.47338541T>G | CA380320180 | MYBPC3 | c.2287A>C (p.Asn763His) c.2269A>C (p.Asn757His) c.2206A>C (p.Asn736His) | |
11 | g.47338542G>A | CA049022 | MYBPC3 | c.2286C>T (p.Val762=) c.2268C>T (p.Val756=) c.2205C>T (p.Val735=) | |
11 | g.47338542G>C | CA474216966 | MYBPC3 | c.2286C>G (p.Val762=) c.2268C>G (p.Val756=) c.2205C>G (p.Val735=) | ClinVar dbSNP gnomAD v4 |
11 | g.47338542G>T | CA474216967 | MYBPC3 | c.2286C>A (p.Val762=) c.2268C>A (p.Val756=) c.2205C>A (p.Val735=) | |
11 | g.47338543A= | CA1969332230 | MYBPC3 | c.2285T= (p.Val762=) c.2267T= (p.Val756=) c.2204T= (p.Val735=) | |
11 | g.47338543A>C | CA380320181 | MYBPC3 | c.2285T>G (p.Val762Gly) c.2267T>G (p.Val756Gly) c.2204T>G (p.Val735Gly) | dbSNP |
11 | g.47338543A>G | CA380320182 | MYBPC3 | c.2285T>C (p.Val762Ala) c.2267T>C (p.Val756Ala) c.2204T>C (p.Val735Ala) | |
11 | g.47338543A>T | CA380320183 | MYBPC3 | c.2285T>A (p.Val762Asp) c.2267T>A (p.Val756Asp) c.2204T>A (p.Val735Asp) | ClinVar dbSNP gnomAD v4 |
11 | g.47338544C>A | CA380320184 | MYBPC3 | c.2284G>T (p.Val762Phe) c.2266G>T (p.Val756Phe) c.2203G>T (p.Val735Phe) | |
11 | g.47338544C>G | CA380320185 | MYBPC3 | c.2284G>C (p.Val762Leu) c.2266G>C (p.Val756Leu) c.2203G>C (p.Val735Leu) | gnomAD v4 |
11 | g.47338544C>T | CA380320186 | MYBPC3 | c.2284G>A (p.Val762Ile) c.2266G>A (p.Val756Ile) c.2203G>A (p.Val735Ile) | |
11 | g.47338545C>A | CA380320188 | MYBPC3 | c.2283G>T (p.Gln761His) c.2265G>T (p.Gln755His) c.2202G>T (p.Gln734His) | |
11 | g.47338545C>G | CA380320187 | MYBPC3 | c.2283G>C (p.Gln761His) c.2265G>C (p.Gln755His) c.2202G>C (p.Gln734His) | |
11 | g.47338545C>T | CA474216968 | MYBPC3 | c.2283G>A (p.Gln761=) c.2265G>A (p.Gln755=) c.2202G>A (p.Gln734=) | |
11 | g.47338546T>A | CA380320189 | MYBPC3 | c.2282A>T (p.Gln761Leu) c.2264A>T (p.Gln755Leu) c.2201A>T (p.Gln734Leu) | |
11 | g.47338546T>C | CA380320190 | MYBPC3 | c.2282A>G (p.Gln761Arg) c.2264A>G (p.Gln755Arg) c.2201A>G (p.Gln734Arg) | |
11 | g.47338546T>G | CA380320191 | MYBPC3 | c.2282A>C (p.Gln761Pro) c.2264A>C (p.Gln755Pro) c.2201A>C (p.Gln734Pro) | |
11 | g.47338547G>A | CA380320192 | MYBPC3 | c.2281C>T (p.Gln761Ter) c.2263C>T (p.Gln755Ter) c.2200C>T (p.Gln734Ter) | ClinVar dbSNP |
11 | g.47338547G>C | CA380320193 | MYBPC3 | c.2281C>G (p.Gln761Glu) c.2263C>G (p.Gln755Glu) c.2200C>G (p.Gln734Glu) | |
11 | g.47338547G= | CA1969332235 | MYBPC3 | c.2281C= (p.Gln761=) c.2263C= (p.Gln755=) c.2200C= (p.Gln734=) | |
11 | g.47338547G>T | CA380320194 | MYBPC3 | c.2281C>A (p.Gln761Lys) c.2263C>A (p.Gln755Lys) c.2200C>A (p.Gln734Lys) | |
11 | g.47338548del | CA2580084162 | MYBPC3 | c.2281del (p.Gln761ArgfsTer?) c.2263del (p.Gln755ArgfsTer?) c.2200del (p.Gln734ArgfsTer?) | ClinVar |
11 | g.47338548G>A | CA474216970 | MYBPC3 | c.2280C>T (p.Asp760=) c.2262C>T (p.Asp754=) c.2199C>T (p.Asp733=) | ClinVar gnomAD v4 |
11 | g.47338548G>C | CA380320195 | MYBPC3 | c.2280C>G (p.Asp760Glu) c.2262C>G (p.Asp754Glu) c.2199C>G (p.Asp733Glu) | gnomAD v4 |
11 | g.47338548G>T | CA380320196 | MYBPC3 | c.2280C>A (p.Asp760Glu) c.2262C>A (p.Asp754Glu) c.2199C>A (p.Asp733Glu) | |
11 | g.47338548_47338549delinsGT | CA1969332239 | MYBPC3 | c.2279_2280delinsAC (p.Asp760=) c.2261_2262delinsAC (p.Asp754=) c.2198_2199delinsAC (p.Asp733=) | |
11 | g.47338549del | CA16613383 | MYBPC3 | c.2279del (p.Asp760AlafsTer?) c.2261del (p.Asp754AlafsTer?) c.2198del (p.Asp733AlafsTer?) | ClinVar dbSNP |
11 | g.47338549T>A | CA380320197 | MYBPC3 | c.2279A>T (p.Asp760Val) c.2261A>T (p.Asp754Val) c.2198A>T (p.Asp733Val) | |
11 | g.47338549T>C | CA380320198 | MYBPC3 | c.2279A>G (p.Asp760Gly) c.2261A>G (p.Asp754Gly) c.2198A>G (p.Asp733Gly) | |
11 | g.47338549T>G | CA380320199 | MYBPC3 | c.2279A>C (p.Asp760Ala) c.2261A>C (p.Asp754Ala) c.2198A>C (p.Asp733Ala) | |
11 | g.47338550C>A | CA380320200 | MYBPC3 | c.2278G>T (p.Asp760Tyr) c.2260G>T (p.Asp754Tyr) c.2197G>T (p.Asp733Tyr) | |
11 | g.47338550C= | CA1969332245 | MYBPC3 | c.2278G= (p.Asp760=) c.2260G= (p.Asp754=) c.2197G= (p.Asp733=) | |
11 | g.47338550C>G | CA078614 | MYBPC3 | c.2278G>C (p.Asp760His) c.2260G>C (p.Asp754His) c.2197G>C (p.Asp733His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47338550C>T | CA380320201 | MYBPC3 | c.2278G>A (p.Asp760Asn) c.2260G>A (p.Asp754Asn) c.2197G>A (p.Asp733Asn) | dbSNP |
11 | g.47338550_47338551delinsGT | CA2580084163 | MYBPC3 | c.2277_2278delinsAC (p.Asp760His) c.2259_2260delinsAC (p.Asp754His) c.2196_2197delinsAC (p.Asp733His) | ClinVar |
11 | g.47338551C>A | CA380320202 | MYBPC3 | c.2277G>T (p.Glu759Asp) c.2259G>T (p.Glu753Asp) c.2196G>T (p.Glu732Asp) | |
11 | g.47338551C= | CA1969332249 | MYBPC3 | c.2277G= (p.Glu759=) c.2259G= (p.Glu753=) c.2196G= (p.Glu732=) | |
11 | g.47338551C>G | CA380320203 | MYBPC3 | c.2277G>C (p.Glu759Asp) c.2259G>C (p.Glu753Asp) c.2196G>C (p.Glu732Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338551C>T | CA078612 | MYBPC3 | c.2277G>A (p.Glu759=) c.2259G>A (p.Glu753=) c.2196G>A (p.Glu732=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47338552T>A | CA380320205 | MYBPC3 | c.2276A>T (p.Glu759Val) c.2258A>T (p.Glu753Val) c.2195A>T (p.Glu732Val) | |
11 | g.47338552T>C | CA380320204 | MYBPC3 | c.2276A>G (p.Glu759Gly) c.2258A>G (p.Glu753Gly) c.2195A>G (p.Glu732Gly) | |
11 | g.47338552T>G | CA380320206 | MYBPC3 | c.2276A>C (p.Glu759Ala) c.2258A>C (p.Glu753Ala) c.2195A>C (p.Glu732Ala) | |
11 | g.47338553C>A | CA380320207 | MYBPC3 | c.2275G>T (p.Glu759Ter) c.2257G>T (p.Glu753Ter) c.2194G>T (p.Glu732Ter) | |
11 | g.47338553C= | CA1969332253 | MYBPC3 | c.2275G= (p.Glu759=) c.2257G= (p.Glu753=) c.2194G= (p.Glu732=) | |
11 | g.47338553C>G | CA049009 | MYBPC3 | c.2275G>C (p.Glu759Gln) c.2257G>C (p.Glu753Gln) c.2194G>C (p.Glu732Gln) | |
11 | g.47338553C>T | CA078609 | MYBPC3 | c.2275G>A (p.Glu759Lys) c.2257G>A (p.Glu753Lys) c.2194G>A (p.Glu732Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338554G>A | CA011968 | MYBPC3 | c.2274C>T (p.Gly758=) c.2256C>T (p.Gly752=) c.2193C>T (p.Gly731=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47338554G>C | CA474216971 | MYBPC3 | c.2274C>G (p.Gly758=) c.2256C>G (p.Gly752=) c.2193C>G (p.Gly731=) | |
11 | g.47338554G= | CA1969332258 | MYBPC3 | c.2274C= (p.Gly758=) c.2256C= (p.Gly752=) c.2193C= (p.Gly731=) | |
11 | g.47338554G>T | CA474216972 | MYBPC3 | c.2274C>A (p.Gly758=) c.2256C>A (p.Gly752=) c.2193C>A (p.Gly731=) | |
11 | g.47338555C>A | CA380320208 | MYBPC3 | c.2273G>T (p.Gly758Val) c.2255G>T (p.Gly752Val) c.2192G>T (p.Gly731Val) | |
11 | g.47338555C= | CA1969332266 | MYBPC3 | c.2273G= (p.Gly758=) c.2255G= (p.Gly752=) c.2192G= (p.Gly731=) | |
11 | g.47338555C>G | CA380320209 | MYBPC3 | c.2273G>C (p.Gly758Ala) c.2255G>C (p.Gly752Ala) c.2192G>C (p.Gly731Ala) | |
11 | g.47338555C>T | CA380320210 | MYBPC3 | c.2273G>A (p.Gly758Asp) c.2255G>A (p.Gly752Asp) c.2192G>A (p.Gly731Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338556C>A | CA380320211 | MYBPC3 | c.2272G>T (p.Gly758Cys) c.2254G>T (p.Gly752Cys) c.2191G>T (p.Gly731Cys) | |
11 | g.47338556C>G | CA380320212 | MYBPC3 | c.2272G>C (p.Gly758Arg) c.2254G>C (p.Gly752Arg) c.2191G>C (p.Gly731Arg) | |
11 | g.47338556C>T | CA048984 | MYBPC3 | c.2272G>A (p.Gly758Ser) c.2254G>A (p.Gly752Ser) c.2191G>A (p.Gly731Ser) | |
11 | g.47338557C>A | CA474216975 | MYBPC3 | c.2271G>T (p.Val757=) c.2253G>T (p.Val751=) c.2190G>T (p.Val730=) | |
11 | g.47338557C= | CA1969332268 | MYBPC3 | c.2271G= (p.Val757=) c.2253G= (p.Val751=) c.2190G= (p.Val730=) | |
11 | g.47338557C>G | CA474216974 | MYBPC3 | c.2271G>C (p.Val757=) c.2253G>C (p.Val751=) c.2190G>C (p.Val730=) | |
11 | g.47338557C>T | CA078605 | MYBPC3 | c.2271G>A (p.Val757=) c.2253G>A (p.Val751=) c.2190G>A (p.Val730=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.47338558A= | CA1969332269 | MYBPC3 | c.2270T= (p.Val757=) c.2252T= (p.Val751=) c.2189T= (p.Val730=) | |
11 | g.47338558A>C | CA380320215 | MYBPC3 | c.2270T>G (p.Val757Gly) c.2252T>G (p.Val751Gly) c.2189T>G (p.Val730Gly) | |
11 | g.47338558A>G | CA380320214 | MYBPC3 | c.2270T>C (p.Val757Ala) c.2252T>C (p.Val751Ala) c.2189T>C (p.Val730Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338558A>T | CA380320213 | MYBPC3 | c.2270T>A (p.Val757Glu) c.2252T>A (p.Val751Glu) c.2189T>A (p.Val730Glu) | |
11 | g.47338559C>A | CA380320216 | MYBPC3 | c.2269G>T (p.Val757Leu) c.2251G>T (p.Val751Leu) c.2188G>T (p.Val730Leu) | |
11 | g.47338559C= | CA1969332270 | MYBPC3 | c.2269G= (p.Val757=) c.2251G= (p.Val751=) c.2188G= (p.Val730=) | |
11 | g.47338559C>G | CA380320217 | MYBPC3 | c.2269G>C (p.Val757Leu) c.2251G>C (p.Val751Leu) c.2188G>C (p.Val730Leu) | |
11 | g.47338559C>T | CA011961 | MYBPC3 | c.2269G>A (p.Val757Met) c.2251G>A (p.Val751Met) c.2188G>A (p.Val730Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338560A= | CA1969332274 | MYBPC3 | c.2268T= (p.Pro756=) c.2250T= (p.Pro750=) c.2187T= (p.Pro729=) | |
11 | g.47338560A>C | CA474216978 | MYBPC3 | c.2268T>G (p.Pro756=) c.2250T>G (p.Pro750=) c.2187T>G (p.Pro729=) | |
11 | g.47338560A>G | CA474216979 | MYBPC3 | c.2268T>C (p.Pro756=) c.2250T>C (p.Pro750=) c.2187T>C (p.Pro729=) | ClinVar dbSNP |
11 | g.47338560A>T | CA474216980 | MYBPC3 | c.2268T>A (p.Pro756=) c.2250T>A (p.Pro750=) c.2187T>A (p.Pro729=) | |
11 | g.47338560_47338561delinsAG | CA1969332273 | MYBPC3 | c.2267_2268delinsCT (p.Pro756=) c.2249_2250delinsCT (p.Pro750=) c.2186_2187delinsCT (p.Pro729=) | |
11 | g.47338561G>A | CA380320218 | MYBPC3 | c.2267C>T (p.Pro756Leu) c.2249C>T (p.Pro750Leu) c.2186C>T (p.Pro729Leu) | dbSNP |
11 | g.47338561G>C | CA380320219 | MYBPC3 | c.2267C>G (p.Pro756Arg) c.2249C>G (p.Pro750Arg) c.2186C>G (p.Pro729Arg) | |
11 | g.47338561G= | CA1969332282 | MYBPC3 | c.2267C= (p.Pro756=) c.2249C= (p.Pro750=) c.2186C= (p.Pro729=) | |
11 | g.47338561G>T | CA380320220 | MYBPC3 | c.2267C>A (p.Pro756His) c.2249C>A (p.Pro750His) c.2186C>A (p.Pro729His) | dbSNP |
11 | g.47338563del | CA011951 | MYBPC3 | c.2267del (p.Pro756LeufsTer?) c.2249del (p.Pro750LeufsTer?) c.2186del (p.Pro729LeufsTer?) | ClinVar dbSNP |
11 | g.47338562G>A | CA380320221 | MYBPC3 | c.2266C>T (p.Pro756Ser) c.2248C>T (p.Pro750Ser) c.2185C>T (p.Pro729Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47338562G>C | CA380320222 | MYBPC3 | c.2266C>G (p.Pro756Ala) c.2248C>G (p.Pro750Ala) c.2185C>G (p.Pro729Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47338562G= | CA1969332284 | MYBPC3 | c.2266C= (p.Pro756=) c.2248C= (p.Pro750=) c.2185C= (p.Pro729=) | |
11 | g.47338562G>T | CA380320223 | MYBPC3 | c.2266C>A (p.Pro756Thr) c.2248C>A (p.Pro750Thr) c.2185C>A (p.Pro729Thr) | |
11 | g.47338563G>A | CA474216981 | MYBPC3 | c.2265C>T (p.Asn755=) c.2247C>T (p.Asn749=) c.2184C>T (p.Asn728=) | |
11 | g.47338563G>C | CA380320224 | MYBPC3 | c.2265C>G (p.Asn755Lys) c.2247C>G (p.Asn749Lys) c.2184C>G (p.Asn728Lys) | |
11 | g.47338563G= | CA1969332289 | MYBPC3 | c.2265C= (p.Asn755=) c.2247C= (p.Asn749=) c.2184C= (p.Asn728=) | |
11 | g.47338563G>T | CA16613387 | MYBPC3 | c.2265C>A (p.Asn755Lys) c.2247C>A (p.Asn749Lys) c.2184C>A (p.Asn728Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47338564T>A | CA380320227 | MYBPC3 | c.2264A>T (p.Asn755Ile) c.2246A>T (p.Asn749Ile) c.2183A>T (p.Asn728Ile) | |
11 | g.47338564T>C | CA380320226 | MYBPC3 | c.2264A>G (p.Asn755Ser) c.2246A>G (p.Asn749Ser) c.2183A>G (p.Asn728Ser) | |
11 | g.47338564T>G | CA380320225 | MYBPC3 | c.2264A>C (p.Asn755Thr) c.2246A>C (p.Asn749Thr) c.2183A>C (p.Asn728Thr) | |
11 | g.47338565T>A | CA380320228 | MYBPC3 | c.2263A>T (p.Asn755Tyr) c.2245A>T (p.Asn749Tyr) c.2182A>T (p.Asn728Tyr) | |
11 | g.47338565T>C | CA380320229 | MYBPC3 | c.2263A>G (p.Asn755Asp) c.2245A>G (p.Asn749Asp) c.2182A>G (p.Asn728Asp) | |
11 | g.47338565T>G | CA380320230 | MYBPC3 | c.2263A>C (p.Asn755His) c.2245A>C (p.Asn749His) c.2182A>C (p.Asn728His) | |
11 | g.47338566C>A | CA380320231 | MYBPC3 | c.2262G>T (p.Lys754Asn) c.2244G>T (p.Lys748Asn) c.2181G>T (p.Lys727Asn) | |
11 | g.47338566C>G | CA380320232 | MYBPC3 | c.2262G>C (p.Lys754Asn) c.2244G>C (p.Lys748Asn) c.2181G>C (p.Lys727Asn) | |
11 | g.47338566C>T | CA474216982 | MYBPC3 | c.2262G>A (p.Lys754=) c.2244G>A (p.Lys748=) c.2181G>A (p.Lys727=) | ClinVar gnomAD v4 |
11 | g.47338567T>A | CA380320233 | MYBPC3 | c.2261A>T (p.Lys754Met) c.2243A>T (p.Lys748Met) c.2180A>T (p.Lys727Met) | |
11 | g.47338567T>C | CA380320234 | MYBPC3 | c.2261A>G (p.Lys754Arg) c.2243A>G (p.Lys748Arg) c.2180A>G (p.Lys727Arg) | gnomAD v4 |
11 | g.47338567T>G | CA380320235 | MYBPC3 | c.2261A>C (p.Lys754Thr) c.2243A>C (p.Lys748Thr) c.2180A>C (p.Lys727Thr) | |
11 | g.47338568T>A | CA380320236 | MYBPC3 | c.2260A>T (p.Lys754Ter) c.2242A>T (p.Lys748Ter) c.2179A>T (p.Lys727Ter) | |
11 | g.47338568T>C | CA380320237 | MYBPC3 | c.2260A>G (p.Lys754Glu) c.2242A>G (p.Lys748Glu) c.2179A>G (p.Lys727Glu) | |
11 | g.47338568T>G | CA380320238 | MYBPC3 | c.2260A>C (p.Lys754Gln) c.2242A>C (p.Lys748Gln) c.2179A>C (p.Lys727Gln) | |
11 | g.47338568_47338569insGA | CA2695212766 | MYBPC3 | c.2259_2260insTC (p.Lys754SerfsTer?) c.2241_2242insTC (p.Lys748SerfsTer?) c.2178_2179insTC (p.Lys727SerfsTer?) | |
11 | g.47338569C>A | CA474216986 | MYBPC3 | c.2259G>T (p.Val753=) c.2241G>T (p.Val747=) c.2178G>T (p.Val726=) | |
11 | g.47338569C= | CA1969332293 | MYBPC3 | c.2259G= (p.Val753=) c.2241G= (p.Val747=) c.2178G= (p.Val726=) | |
11 | g.47338569C>G | CA474216987 | MYBPC3 | c.2259G>C (p.Val753=) c.2241G>C (p.Val747=) c.2178G>C (p.Val726=) | |
11 | g.47338569C>T | CA474216988 | MYBPC3 | c.2259G>A (p.Val753=) c.2241G>A (p.Val747=) c.2178G>A (p.Val726=) | dbSNP |
11 | g.47338570A>C | CA380320241 | MYBPC3 | c.2258T>G (p.Val753Gly) c.2240T>G (p.Val747Gly) c.2177T>G (p.Val726Gly) | |
11 | g.47338570A>G | CA380320239 | MYBPC3 | c.2258T>C (p.Val753Ala) c.2240T>C (p.Val747Ala) c.2177T>C (p.Val726Ala) | |
11 | g.47338570A>T | CA380320240 | MYBPC3 | c.2258T>A (p.Val753Glu) c.2240T>A (p.Val747Glu) c.2177T>A (p.Val726Glu) | |
11 | g.47338570dup | CA5975367 | MYBPC3 | c.2258dup (p.Lys754GlufsTer?) c.2240dup (p.Lys748GlufsTer?) c.2177dup (p.Lys727GlufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338571C>A | CA380320242 | MYBPC3 | c.2257G>T (p.Val753Leu) c.2239G>T (p.Val747Leu) c.2176G>T (p.Val726Leu) | |
11 | g.47338571C>G | CA380320243 | MYBPC3 | c.2257G>C (p.Val753Leu) c.2239G>C (p.Val747Leu) c.2176G>C (p.Val726Leu) | ClinVar dbSNP |
11 | g.47338571C>T | CA380320244 | MYBPC3 | c.2257G>A (p.Val753Met) c.2239G>A (p.Val747Met) c.2176G>A (p.Val726Met) | gnomAD v3 gnomAD v4 |
11 | g.47338572T>A | CA474216991 | MYBPC3 | c.2256A>T (p.Thr752=) c.2238A>T (p.Thr746=) c.2175A>T (p.Thr725=) | |
11 | g.47338572T>C | CA474216990 | MYBPC3 | c.2256A>G (p.Thr752=) c.2238A>G (p.Thr746=) c.2175A>G (p.Thr725=) | ClinVar dbSNP gnomAD v4 |
11 | g.47338572T>G | CA474216989 | MYBPC3 | c.2256A>C (p.Thr752=) c.2238A>C (p.Thr746=) c.2175A>C (p.Thr725=) | |
11 | g.47338572T= | CA1969332303 | MYBPC3 | c.2256A= (p.Thr752=) c.2238A= (p.Thr746=) c.2175A= (p.Thr725=) | |
11 | g.47338573G>A | CA380320245 | MYBPC3 | c.2255C>T (p.Thr752Ile) c.2237C>T (p.Thr746Ile) c.2174C>T (p.Thr725Ile) | |
11 | g.47338573G>C | CA380320246 | MYBPC3 | c.2255C>G (p.Thr752Arg) c.2237C>G (p.Thr746Arg) c.2174C>G (p.Thr725Arg) | |
11 | g.47338573G>T | CA380320247 | MYBPC3 | c.2255C>A (p.Thr752Lys) c.2237C>A (p.Thr746Lys) c.2174C>A (p.Thr725Lys) | |
11 | g.47338574T>A | CA380320248 | MYBPC3 | c.2254A>T (p.Thr752Ser) c.2236A>T (p.Thr746Ser) c.2173A>T (p.Thr725Ser) | |
11 | g.47338574T>C | CA380320249 | MYBPC3 | c.2254A>G (p.Thr752Ala) c.2236A>G (p.Thr746Ala) c.2173A>G (p.Thr725Ala) | |
11 | g.47338574T>G | CA380320250 | MYBPC3 | c.2254A>C (p.Thr752Pro) c.2236A>C (p.Thr746Pro) c.2173A>C (p.Thr725Pro) | |
11 | g.47338575G>A | CA474216993 | MYBPC3 | c.2253C>T (p.Val751=) c.2235C>T (p.Val745=) c.2172C>T (p.Val724=) | |
11 | g.47338575G>C | CA474216994 | MYBPC3 | c.2253C>G (p.Val751=) c.2235C>G (p.Val745=) c.2172C>G (p.Val724=) | |
11 | g.47338575G>T | CA474216995 | MYBPC3 | c.2253C>A (p.Val751=) c.2235C>A (p.Val745=) c.2172C>A (p.Val724=) | |
11 | g.47338576A= | CA1969332309 | MYBPC3 | c.2252T= (p.Val751=) c.2234T= (p.Val745=) c.2171T= (p.Val724=) | |
11 | g.47338576A>C | CA380320251 | MYBPC3 | c.2252T>G (p.Val751Gly) c.2234T>G (p.Val745Gly) c.2171T>G (p.Val724Gly) | |
11 | g.47338576A>G | CA380320252 | MYBPC3 | c.2252T>C (p.Val751Ala) c.2234T>C (p.Val745Ala) c.2171T>C (p.Val724Ala) | |
11 | g.47338576A>T | CA380320253 | MYBPC3 | c.2252T>A (p.Val751Asp) c.2234T>A (p.Val745Asp) c.2171T>A (p.Val724Asp) | ClinVar dbSNP |