Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47338550C>ACA380320200MYBPC3c.2278G>T (p.Asp760Tyr)
c.2260G>T (p.Asp754Tyr)
c.2197G>T (p.Asp733Tyr)
11g.47338550C=CA1969332245MYBPC3c.2278G= (p.Asp760=)
c.2260G= (p.Asp754=)
c.2197G= (p.Asp733=)
11g.47338550C>GCA078614MYBPC3c.2278G>C (p.Asp760His)
c.2260G>C (p.Asp754His)
c.2197G>C (p.Asp733His)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47338550C>TCA380320201MYBPC3c.2278G>A (p.Asp760Asn)
c.2260G>A (p.Asp754Asn)
c.2197G>A (p.Asp733Asn)
dbSNP
11g.47338550_47338551delinsGTCA2580084163MYBPC3c.2277_2278delinsAC (p.Asp760His)
c.2259_2260delinsAC (p.Asp754His)
c.2196_2197delinsAC (p.Asp733His)
ClinVar
11g.47338551C>ACA380320202MYBPC3c.2277G>T (p.Glu759Asp)
c.2259G>T (p.Glu753Asp)
c.2196G>T (p.Glu732Asp)
11g.47338551C=CA1969332249MYBPC3c.2277G= (p.Glu759=)
c.2259G= (p.Glu753=)
c.2196G= (p.Glu732=)
11g.47338551C>GCA380320203MYBPC3c.2277G>C (p.Glu759Asp)
c.2259G>C (p.Glu753Asp)
c.2196G>C (p.Glu732Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47338551C>TCA078612MYBPC3c.2277G>A (p.Glu759=)
c.2259G>A (p.Glu753=)
c.2196G>A (p.Glu732=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47338552T>ACA380320205MYBPC3c.2276A>T (p.Glu759Val)
c.2258A>T (p.Glu753Val)
c.2195A>T (p.Glu732Val)
11g.47338552T>CCA380320204MYBPC3c.2276A>G (p.Glu759Gly)
c.2258A>G (p.Glu753Gly)
c.2195A>G (p.Glu732Gly)
11g.47338552T>GCA380320206MYBPC3c.2276A>C (p.Glu759Ala)
c.2258A>C (p.Glu753Ala)
c.2195A>C (p.Glu732Ala)
11g.47338553C>ACA380320207MYBPC3c.2275G>T (p.Glu759Ter)
c.2257G>T (p.Glu753Ter)
c.2194G>T (p.Glu732Ter)
11g.47338553C=CA1969332253MYBPC3c.2275G= (p.Glu759=)
c.2257G= (p.Glu753=)
c.2194G= (p.Glu732=)
11g.47338553C>GCA049009MYBPC3c.2275G>C (p.Glu759Gln)
c.2257G>C (p.Glu753Gln)
c.2194G>C (p.Glu732Gln)
11g.47338553C>TCA078609MYBPC3c.2275G>A (p.Glu759Lys)
c.2257G>A (p.Glu753Lys)
c.2194G>A (p.Glu732Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338554G>ACA011968MYBPC3c.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
11g.47338554G>CCA474216971MYBPC3c.2274C>G (p.Gly758=)
c.2256C>G (p.Gly752=)
c.2193C>G (p.Gly731=)
11g.47338554G=CA1969332258MYBPC3c.2274C= (p.Gly758=)
c.2256C= (p.Gly752=)
c.2193C= (p.Gly731=)
11g.47338554G>TCA474216972MYBPC3c.2274C>A (p.Gly758=)
c.2256C>A (p.Gly752=)
c.2193C>A (p.Gly731=)
11g.47338555C>ACA380320208MYBPC3c.2273G>T (p.Gly758Val)
c.2255G>T (p.Gly752Val)
c.2192G>T (p.Gly731Val)
11g.47338555C=CA1969332266MYBPC3c.2273G= (p.Gly758=)
c.2255G= (p.Gly752=)
c.2192G= (p.Gly731=)
11g.47338555C>GCA380320209MYBPC3c.2273G>C (p.Gly758Ala)
c.2255G>C (p.Gly752Ala)
c.2192G>C (p.Gly731Ala)
11g.47338555C>TCA380320210MYBPC3c.2273G>A (p.Gly758Asp)
c.2255G>A (p.Gly752Asp)
c.2192G>A (p.Gly731Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47338556C>ACA380320211MYBPC3c.2272G>T (p.Gly758Cys)
c.2254G>T (p.Gly752Cys)
c.2191G>T (p.Gly731Cys)
11g.47338556C>GCA380320212MYBPC3c.2272G>C (p.Gly758Arg)
c.2254G>C (p.Gly752Arg)
c.2191G>C (p.Gly731Arg)
11g.47338556C>TCA048984MYBPC3c.2272G>A (p.Gly758Ser)
c.2254G>A (p.Gly752Ser)
c.2191G>A (p.Gly731Ser)
11g.47338557C>ACA474216975MYBPC3c.2271G>T (p.Val757=)
c.2253G>T (p.Val751=)
c.2190G>T (p.Val730=)
11g.47338557C=CA1969332268MYBPC3c.2271G= (p.Val757=)
c.2253G= (p.Val751=)
c.2190G= (p.Val730=)
11g.47338557C>GCA474216974MYBPC3c.2271G>C (p.Val757=)
c.2253G>C (p.Val751=)
c.2190G>C (p.Val730=)
11g.47338557C>TCA078605MYBPC3c.2271G>A (p.Val757=)
c.2253G>A (p.Val751=)
c.2190G>A (p.Val730=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.47338558A=CA1969332269MYBPC3c.2270T= (p.Val757=)
c.2252T= (p.Val751=)
c.2189T= (p.Val730=)
11g.47338558A>CCA380320215MYBPC3c.2270T>G (p.Val757Gly)
c.2252T>G (p.Val751Gly)
c.2189T>G (p.Val730Gly)
11g.47338558A>GCA380320214MYBPC3c.2270T>C (p.Val757Ala)
c.2252T>C (p.Val751Ala)
c.2189T>C (p.Val730Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47338558A>TCA380320213MYBPC3c.2270T>A (p.Val757Glu)
c.2252T>A (p.Val751Glu)
c.2189T>A (p.Val730Glu)
11g.47338559C>ACA380320216MYBPC3c.2269G>T (p.Val757Leu)
c.2251G>T (p.Val751Leu)
c.2188G>T (p.Val730Leu)
11g.47338559C=CA1969332270MYBPC3c.2269G= (p.Val757=)
c.2251G= (p.Val751=)
c.2188G= (p.Val730=)
11g.47338559C>GCA380320217MYBPC3c.2269G>C (p.Val757Leu)
c.2251G>C (p.Val751Leu)
c.2188G>C (p.Val730Leu)
11g.47338559C>TCA011961MYBPC3c.2269G>A (p.Val757Met)
c.2251G>A (p.Val751Met)
c.2188G>A (p.Val730Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338560A=CA1969332274MYBPC3c.2268T= (p.Pro756=)
c.2250T= (p.Pro750=)
c.2187T= (p.Pro729=)
11g.47338560A>CCA474216978MYBPC3c.2268T>G (p.Pro756=)
c.2250T>G (p.Pro750=)
c.2187T>G (p.Pro729=)
11g.47338560A>GCA474216979MYBPC3c.2268T>C (p.Pro756=)
c.2250T>C (p.Pro750=)
c.2187T>C (p.Pro729=)
ClinVar dbSNP
11g.47338560A>TCA474216980MYBPC3c.2268T>A (p.Pro756=)
c.2250T>A (p.Pro750=)
c.2187T>A (p.Pro729=)
11g.47338560_47338561delinsAGCA1969332273MYBPC3c.2267_2268delinsCT (p.Pro756=)
c.2249_2250delinsCT (p.Pro750=)
c.2186_2187delinsCT (p.Pro729=)
11g.47338561G>ACA380320218MYBPC3c.2267C>T (p.Pro756Leu)
c.2249C>T (p.Pro750Leu)
c.2186C>T (p.Pro729Leu)
dbSNP
11g.47338561G>CCA380320219MYBPC3c.2267C>G (p.Pro756Arg)
c.2249C>G (p.Pro750Arg)
c.2186C>G (p.Pro729Arg)
11g.47338561G=CA1969332282MYBPC3c.2267C= (p.Pro756=)
c.2249C= (p.Pro750=)
c.2186C= (p.Pro729=)
11g.47338561G>TCA380320220MYBPC3c.2267C>A (p.Pro756His)
c.2249C>A (p.Pro750His)
c.2186C>A (p.Pro729His)
dbSNP
11g.47338563delCA011951MYBPC3c.2267del (p.Pro756LeufsTer?)
c.2249del (p.Pro750LeufsTer?)
c.2186del (p.Pro729LeufsTer?)
ClinVar dbSNP
11g.47338562G>ACA380320221MYBPC3c.2266C>T (p.Pro756Ser)
c.2248C>T (p.Pro750Ser)
c.2185C>T (p.Pro729Ser)
dbSNP gnomAD v3 gnomAD v4
11g.47338562G>CCA380320222MYBPC3c.2266C>G (p.Pro756Ala)
c.2248C>G (p.Pro750Ala)
c.2185C>G (p.Pro729Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47338562G=CA1969332284MYBPC3c.2266C= (p.Pro756=)
c.2248C= (p.Pro750=)
c.2185C= (p.Pro729=)
11g.47338562G>TCA380320223MYBPC3c.2266C>A (p.Pro756Thr)
c.2248C>A (p.Pro750Thr)
c.2185C>A (p.Pro729Thr)
11g.47338563G>ACA474216981MYBPC3c.2265C>T (p.Asn755=)
c.2247C>T (p.Asn749=)
c.2184C>T (p.Asn728=)
11g.47338563G>CCA380320224MYBPC3c.2265C>G (p.Asn755Lys)
c.2247C>G (p.Asn749Lys)
c.2184C>G (p.Asn728Lys)
11g.47338563G=CA1969332289MYBPC3c.2265C= (p.Asn755=)
c.2247C= (p.Asn749=)
c.2184C= (p.Asn728=)
11g.47338563G>TCA16613387MYBPC3c.2265C>A (p.Asn755Lys)
c.2247C>A (p.Asn749Lys)
c.2184C>A (p.Asn728Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47338564T>ACA380320227MYBPC3c.2264A>T (p.Asn755Ile)
c.2246A>T (p.Asn749Ile)
c.2183A>T (p.Asn728Ile)
11g.47338564T>CCA380320226MYBPC3c.2264A>G (p.Asn755Ser)
c.2246A>G (p.Asn749Ser)
c.2183A>G (p.Asn728Ser)
11g.47338564T>GCA380320225MYBPC3c.2264A>C (p.Asn755Thr)
c.2246A>C (p.Asn749Thr)
c.2183A>C (p.Asn728Thr)
11g.47338565T>ACA380320228MYBPC3c.2263A>T (p.Asn755Tyr)
c.2245A>T (p.Asn749Tyr)
c.2182A>T (p.Asn728Tyr)
11g.47338565T>CCA380320229MYBPC3c.2263A>G (p.Asn755Asp)
c.2245A>G (p.Asn749Asp)
c.2182A>G (p.Asn728Asp)
11g.47338565T>GCA380320230MYBPC3c.2263A>C (p.Asn755His)
c.2245A>C (p.Asn749His)
c.2182A>C (p.Asn728His)
11g.47338566C>ACA380320231MYBPC3c.2262G>T (p.Lys754Asn)
c.2244G>T (p.Lys748Asn)
c.2181G>T (p.Lys727Asn)
11g.47338566C>GCA380320232MYBPC3c.2262G>C (p.Lys754Asn)
c.2244G>C (p.Lys748Asn)
c.2181G>C (p.Lys727Asn)
11g.47338566C>TCA474216982MYBPC3c.2262G>A (p.Lys754=)
c.2244G>A (p.Lys748=)
c.2181G>A (p.Lys727=)
ClinVar gnomAD v4
11g.47338567T>ACA380320233MYBPC3c.2261A>T (p.Lys754Met)
c.2243A>T (p.Lys748Met)
c.2180A>T (p.Lys727Met)
11g.47338567T>CCA380320234MYBPC3c.2261A>G (p.Lys754Arg)
c.2243A>G (p.Lys748Arg)
c.2180A>G (p.Lys727Arg)
gnomAD v4
11g.47338567T>GCA380320235MYBPC3c.2261A>C (p.Lys754Thr)
c.2243A>C (p.Lys748Thr)
c.2180A>C (p.Lys727Thr)
11g.47338568T>ACA380320236MYBPC3c.2260A>T (p.Lys754Ter)
c.2242A>T (p.Lys748Ter)
c.2179A>T (p.Lys727Ter)
11g.47338568T>CCA380320237MYBPC3c.2260A>G (p.Lys754Glu)
c.2242A>G (p.Lys748Glu)
c.2179A>G (p.Lys727Glu)
11g.47338568T>GCA380320238MYBPC3c.2260A>C (p.Lys754Gln)
c.2242A>C (p.Lys748Gln)
c.2179A>C (p.Lys727Gln)
11g.47338568_47338569insGACA2695212766MYBPC3c.2259_2260insTC (p.Lys754SerfsTer?)
c.2241_2242insTC (p.Lys748SerfsTer?)
c.2178_2179insTC (p.Lys727SerfsTer?)
11g.47338569C>ACA474216986MYBPC3c.2259G>T (p.Val753=)
c.2241G>T (p.Val747=)
c.2178G>T (p.Val726=)
11g.47338569C=CA1969332293MYBPC3c.2259G= (p.Val753=)
c.2241G= (p.Val747=)
c.2178G= (p.Val726=)
11g.47338569C>GCA474216987MYBPC3c.2259G>C (p.Val753=)
c.2241G>C (p.Val747=)
c.2178G>C (p.Val726=)
11g.47338569C>TCA474216988MYBPC3c.2259G>A (p.Val753=)
c.2241G>A (p.Val747=)
c.2178G>A (p.Val726=)
dbSNP
11g.47338570A>CCA380320241MYBPC3c.2258T>G (p.Val753Gly)
c.2240T>G (p.Val747Gly)
c.2177T>G (p.Val726Gly)
11g.47338570A>GCA380320239MYBPC3c.2258T>C (p.Val753Ala)
c.2240T>C (p.Val747Ala)
c.2177T>C (p.Val726Ala)
11g.47338570A>TCA380320240MYBPC3c.2258T>A (p.Val753Glu)
c.2240T>A (p.Val747Glu)
c.2177T>A (p.Val726Glu)
11g.47338570dupCA5975367MYBPC3c.2258dup (p.Lys754GlufsTer?)
c.2240dup (p.Lys748GlufsTer?)
c.2177dup (p.Lys727GlufsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338571C>ACA380320242MYBPC3c.2257G>T (p.Val753Leu)
c.2239G>T (p.Val747Leu)
c.2176G>T (p.Val726Leu)
11g.47338571C>GCA380320243MYBPC3c.2257G>C (p.Val753Leu)
c.2239G>C (p.Val747Leu)
c.2176G>C (p.Val726Leu)
ClinVar dbSNP
11g.47338571C>TCA380320244MYBPC3c.2257G>A (p.Val753Met)
c.2239G>A (p.Val747Met)
c.2176G>A (p.Val726Met)
gnomAD v3 gnomAD v4
11g.47338572T>ACA474216991MYBPC3c.2256A>T (p.Thr752=)
c.2238A>T (p.Thr746=)
c.2175A>T (p.Thr725=)
11g.47338572T>CCA474216990MYBPC3c.2256A>G (p.Thr752=)
c.2238A>G (p.Thr746=)
c.2175A>G (p.Thr725=)
ClinVar dbSNP gnomAD v4
11g.47338572T>GCA474216989MYBPC3c.2256A>C (p.Thr752=)
c.2238A>C (p.Thr746=)
c.2175A>C (p.Thr725=)
11g.47338572T=CA1969332303MYBPC3c.2256A= (p.Thr752=)
c.2238A= (p.Thr746=)
c.2175A= (p.Thr725=)
11g.47338573G>ACA380320245MYBPC3c.2255C>T (p.Thr752Ile)
c.2237C>T (p.Thr746Ile)
c.2174C>T (p.Thr725Ile)
11g.47338573G>CCA380320246MYBPC3c.2255C>G (p.Thr752Arg)
c.2237C>G (p.Thr746Arg)
c.2174C>G (p.Thr725Arg)
11g.47338573G>TCA380320247MYBPC3c.2255C>A (p.Thr752Lys)
c.2237C>A (p.Thr746Lys)
c.2174C>A (p.Thr725Lys)
11g.47338574T>ACA380320248MYBPC3c.2254A>T (p.Thr752Ser)
c.2236A>T (p.Thr746Ser)
c.2173A>T (p.Thr725Ser)
11g.47338574T>CCA380320249MYBPC3c.2254A>G (p.Thr752Ala)
c.2236A>G (p.Thr746Ala)
c.2173A>G (p.Thr725Ala)
11g.47338574T>GCA380320250MYBPC3c.2254A>C (p.Thr752Pro)
c.2236A>C (p.Thr746Pro)
c.2173A>C (p.Thr725Pro)
11g.47338575G>ACA474216993MYBPC3c.2253C>T (p.Val751=)
c.2235C>T (p.Val745=)
c.2172C>T (p.Val724=)
11g.47338575G>CCA474216994MYBPC3c.2253C>G (p.Val751=)
c.2235C>G (p.Val745=)
c.2172C>G (p.Val724=)
11g.47338575G>TCA474216995MYBPC3c.2253C>A (p.Val751=)
c.2235C>A (p.Val745=)
c.2172C>A (p.Val724=)
11g.47338576A=CA1969332309MYBPC3c.2252T= (p.Val751=)
c.2234T= (p.Val745=)
c.2171T= (p.Val724=)
11g.47338576A>CCA380320251MYBPC3c.2252T>G (p.Val751Gly)
c.2234T>G (p.Val745Gly)
c.2171T>G (p.Val724Gly)
11g.47338576A>GCA380320252MYBPC3c.2252T>C (p.Val751Ala)
c.2234T>C (p.Val745Ala)
c.2171T>C (p.Val724Ala)
11g.47338576A>TCA380320253MYBPC3c.2252T>A (p.Val751Asp)
c.2234T>A (p.Val745Asp)
c.2171T>A (p.Val724Asp)
ClinVar dbSNP
11g.47338577C>ACA380320255MYBPC3c.2251G>T (p.Val751Phe)
c.2233G>T (p.Val745Phe)
c.2170G>T (p.Val724Phe)
11g.47338577C>GCA380320256MYBPC3c.2251G>C (p.Val751Leu)
c.2233G>C (p.Val745Leu)
c.2170G>C (p.Val724Leu)
11g.47338577C>TCA380320254MYBPC3c.2251G>A (p.Val751Ile)
c.2233G>A (p.Val745Ile)
c.2170G>A (p.Val724Ile)
ClinVar gnomAD v4
11g.47338578C>ACA474216996MYBPC3c.2250G>T (p.Thr750=)
c.2232G>T (p.Thr744=)
c.2169G>T (p.Thr723=)
dbSNP COSMIC COSMIC
11g.47338578C=CA1969332315MYBPC3c.2250G= (p.Thr750=)
c.2232G= (p.Thr744=)
c.2169G= (p.Thr723=)
11g.47338578C>GCA474216998MYBPC3c.2250G>C (p.Thr750=)
c.2232G>C (p.Thr744=)
c.2169G>C (p.Thr723=)
ClinVar dbSNP
11g.47338578C>TCA078601MYBPC3c.2250G>A (p.Thr750=)
c.2232G>A (p.Thr744=)
c.2169G>A (p.Thr723=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338578_47338579insTACCA2573053510MYBPC3c.2250_2251insTAG
c.2232_2233insTAG
c.2169_2170insTAG
ClinVar dbSNP
11g.47338579G>ACA011943MYBPC3c.2249C>T (p.Thr750Met)
c.2231C>T (p.Thr744Met)
c.2168C>T (p.Thr723Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338579G>CCA380320257MYBPC3c.2249C>G (p.Thr750Arg)
c.2231C>G (p.Thr744Arg)
c.2168C>G (p.Thr723Arg)
11g.47338579G=CA1969332320MYBPC3c.2249C= (p.Thr750=)
c.2231C= (p.Thr744=)
c.2168C= (p.Thr723=)
11g.47338579G>TCA380320258MYBPC3c.2249C>A (p.Thr750Lys)
c.2231C>A (p.Thr744Lys)
c.2168C>A (p.Thr723Lys)
11g.47338580T>ACA380320259MYBPC3c.2248A>T (p.Thr750Ser)
c.2230A>T (p.Thr744Ser)
c.2167A>T (p.Thr723Ser)
11g.47338580T>CCA380320260MYBPC3c.2248A>G (p.Thr750Ala)
c.2230A>G (p.Thr744Ala)
c.2167A>G (p.Thr723Ala)
ClinVar
11g.47338580T>GCA380320261MYBPC3c.2248A>C (p.Thr750Pro)
c.2230A>C (p.Thr744Pro)
c.2167A>C (p.Thr723Pro)
11g.47338581G>ACA474217000MYBPC3c.2247C>T (p.Tyr749=)
c.2229C>T (p.Tyr743=)
c.2166C>T (p.Tyr722=)
ClinVar dbSNP gnomAD v4
11g.47338581G>CCA380320262MYBPC3c.2247C>G (p.Tyr749Ter)
c.2229C>G (p.Tyr743Ter)
c.2166C>G (p.Tyr722Ter)
11g.47338581G=CA1969332324MYBPC3c.2247C= (p.Tyr749=)
c.2229C= (p.Tyr743=)
c.2166C= (p.Tyr722=)
11g.47338581G>TCA380320263MYBPC3c.2247C>A (p.Tyr749Ter)
c.2229C>A (p.Tyr743Ter)
c.2166C>A (p.Tyr722Ter)
dbSNP
11g.47338582T>ACA380320264MYBPC3c.2246A>T (p.Tyr749Phe)
c.2228A>T (p.Tyr743Phe)
c.2165A>T (p.Tyr722Phe)
11g.47338582T>CCA380320265MYBPC3c.2246A>G (p.Tyr749Cys)
c.2228A>G (p.Tyr743Cys)
c.2165A>G (p.Tyr722Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47338582T>GCA380320267MYBPC3c.2246A>C (p.Tyr749Ser)
c.2228A>C (p.Tyr743Ser)
c.2165A>C (p.Tyr722Ser)
11g.47338582T=CA1969332329MYBPC3c.2246A= (p.Tyr749=)
c.2228A= (p.Tyr743=)
c.2165A= (p.Tyr722=)
11g.47338582_47338588delinsTAGACGCCA1969332327MYBPC3c.2240_2246delinsGCGTCTA (p.Gly747=)
c.2222_2228delinsGCGTCTA (p.Gly741=)
c.2159_2165delinsGCGTCTA (p.Gly720=)
11g.47338583A>CCA380320269MYBPC3c.2245T>G (p.Tyr749Asp)
c.2227T>G (p.Tyr743Asp)
c.2164T>G (p.Tyr722Asp)
11g.47338583A>GCA380320271MYBPC3c.2245T>C (p.Tyr749His)
c.2227T>C (p.Tyr743His)
c.2164T>C (p.Tyr722His)
11g.47338583A>TCA380320273MYBPC3c.2245T>A (p.Tyr749Asn)
c.2227T>A (p.Tyr743Asn)
c.2164T>A (p.Tyr722Asn)
11g.47338583_47338588delinsGAAGGCA916081644MYBPC3c.2240_2245delinsCCTTC (p.Gly747AlafsTer7)
c.2222_2227delinsCCTTC (p.Gly741AlafsTer7)
c.2159_2164delinsCCTTC (p.Gly720AlafsTer7)
ClinVar dbSNP
11g.47338584G>ACA474217002MYBPC3c.2244C>T (p.Val748=)
c.2226C>T (p.Val742=)
c.2163C>T (p.Val721=)
ClinVar dbSNP
11g.47338584G>CCA474217004MYBPC3c.2244C>G (p.Val748=)
c.2226C>G (p.Val742=)
c.2163C>G (p.Val721=)
11g.47338584G=CA1969332338MYBPC3c.2244C= (p.Val748=)
c.2226C= (p.Val742=)
c.2163C= (p.Val721=)
11g.47338584G>TCA474217003MYBPC3c.2244C>A (p.Val748=)
c.2226C>A (p.Val742=)
c.2163C>A (p.Val721=)
11g.47338585A=CA1969332341MYBPC3c.2243T= (p.Val748=)
c.2225T= (p.Val742=)
c.2162T= (p.Val721=)
11g.47338585A>CCA380320275MYBPC3c.2243T>G (p.Val748Gly)
c.2225T>G (p.Val742Gly)
c.2162T>G (p.Val721Gly)
11g.47338585A>GCA380320279MYBPC3c.2243T>C (p.Val748Ala)
c.2225T>C (p.Val742Ala)
c.2162T>C (p.Val721Ala)
COSMIC COSMIC
11g.47338585A>TCA380320277MYBPC3c.2243T>A (p.Val748Asp)
c.2225T>A (p.Val742Asp)
c.2162T>A (p.Val721Asp)
11g.47338585dupCA2573053511MYBPC3c.2243dup (p.Tyr749LeufsTer?)
c.2225dup (p.Tyr743LeufsTer?)
c.2162dup (p.Tyr722LeufsTer?)
ClinVar dbSNP
11g.47338586C>ACA380320280MYBPC3c.2242G>T (p.Val748Phe)
c.2224G>T (p.Val742Phe)
c.2161G>T (p.Val721Phe)
11g.47338586C=CA1969332347MYBPC3c.2242G= (p.Val748=)
c.2224G= (p.Val742=)
c.2161G= (p.Val721=)
11g.47338586C>GCA380320281MYBPC3c.2242G>C (p.Val748Leu)
c.2224G>C (p.Val742Leu)
c.2161G>C (p.Val721Leu)
11g.47338586C>TCA011935MYBPC3c.2242G>A (p.Val748Ile)
c.2224G>A (p.Val742Ile)
c.2161G>A (p.Val721Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.47338586_47338600delCA2791323019MYBPC3c.2228_2242del (p.Lys743_Val748delinsIle)
c.2210_2224del (p.Lys737_Val742delinsIle)
c.2147_2161del (p.Lys716_Val721delinsIle)
11g.47338587_47338608dupCA918872606MYBPC3c.2221_2242dup (p.Val748GlyfsTer6)
c.2203_2224dup (p.Val742GlyfsTer6)
c.2140_2161dup (p.Val721GlyfsTer6)
dbSNP
11g.47338587G>ACA078596MYBPC3c.2241C>T (p.Gly747=)
c.2223C>T (p.Gly741=)
c.2160C>T (p.Gly720=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.47338587G>CCA474217006MYBPC3c.2241C>G (p.Gly747=)
c.2223C>G (p.Gly741=)
c.2160C>G (p.Gly720=)
11g.47338587G=CA1969332354MYBPC3c.2241C= (p.Gly747=)
c.2223C= (p.Gly741=)
c.2160C= (p.Gly720=)
11g.47338587G>TCA474217007MYBPC3c.2241C>A (p.Gly747=)
c.2223C>A (p.Gly741=)
c.2160C>A (p.Gly720=)
11g.47338588C>ACA380320284MYBPC3c.2240G>T (p.Gly747Val)
c.2222G>T (p.Gly741Val)
c.2159G>T (p.Gly720Val)
ClinVar dbSNP
11g.47338588C=CA1969332359MYBPC3c.2240G= (p.Gly747=)
c.2222G= (p.Gly741=)
c.2159G= (p.Gly720=)
11g.47338588C>GCA380320285MYBPC3c.2240G>C (p.Gly747Ala)
c.2222G>C (p.Gly741Ala)
c.2159G>C (p.Gly720Ala)
11g.47338588C>TCA380320287MYBPC3c.2240G>A (p.Gly747Asp)
c.2222G>A (p.Gly741Asp)
c.2159G>A (p.Gly720Asp)
ClinVar dbSNP
11g.47338590delCA2580084167MYBPC3c.2240del (p.Gly747AlafsTer7)
c.2222del (p.Gly741AlafsTer7)
c.2159del (p.Gly720AlafsTer7)
ClinVar
11g.47338589C>ACA380320289MYBPC3c.2239G>T (p.Gly747Cys)
c.2221G>T (p.Gly741Cys)
c.2158G>T (p.Gly720Cys)
11g.47338589C>GCA380320291MYBPC3c.2239G>C (p.Gly747Arg)
c.2221G>C (p.Gly741Arg)
c.2158G>C (p.Gly720Arg)
11g.47338589C>TCA048872MYBPC3c.2239G>A (p.Gly747Ser)
c.2221G>A (p.Gly741Ser)
c.2158G>A (p.Gly720Ser)
11g.47338590C>ACA380320294MYBPC3c.2238G>T (p.Glu746Asp)
c.2220G>T (p.Glu740Asp)
c.2157G>T (p.Glu719Asp)
11g.47338590C>GCA380320296MYBPC3c.2238G>C (p.Glu746Asp)
c.2220G>C (p.Glu740Asp)
c.2157G>C (p.Glu719Asp)
gnomAD v4
11g.47338590C>TCA474217008MYBPC3c.2238G>A (p.Glu746=)
c.2220G>A (p.Glu740=)
c.2157G>A (p.Glu719=)
11g.47338591delCA2695212767MYBPC3c.2237del (p.Glu746GlyfsTer8)
c.2219del (p.Glu740GlyfsTer8)
c.2156del (p.Glu719GlyfsTer8)
11g.47338591T>ACA380320299MYBPC3c.2237A>T (p.Glu746Val)
c.2219A>T (p.Glu740Val)
c.2156A>T (p.Glu719Val)
11g.47338591T>CCA380320302MYBPC3c.2237A>G (p.Glu746Gly)
c.2219A>G (p.Glu740Gly)
c.2156A>G (p.Glu719Gly)
11g.47338591T>GCA380320300MYBPC3c.2237A>C (p.Glu746Ala)
c.2219A>C (p.Glu740Ala)
c.2156A>C (p.Glu719Ala)
11g.47338592C>ACA380320304MYBPC3c.2236G>T (p.Glu746Ter)
c.2218G>T (p.Glu740Ter)
c.2155G>T (p.Glu719Ter)
ClinVar
11g.47338592C>GCA380320306MYBPC3c.2236G>C (p.Glu746Gln)
c.2218G>C (p.Glu740Gln)
c.2155G>C (p.Glu719Gln)
11g.47338592C>TCA380320308MYBPC3c.2236G>A (p.Glu746Lys)
c.2218G>A (p.Glu740Lys)
c.2155G>A (p.Glu719Lys)
11g.47338593A>CCA380320310MYBPC3c.2235T>G (p.Asp745Glu)
c.2217T>G (p.Asp739Glu)
c.2154T>G (p.Asp718Glu)
11g.47338593A>GCA474217010MYBPC3c.2235T>C (p.Asp745=)
c.2217T>C (p.Asp739=)
c.2154T>C (p.Asp718=)
COSMIC COSMIC
11g.47338593A>TCA380320312MYBPC3c.2235T>A (p.Asp745Glu)
c.2217T>A (p.Asp739Glu)
c.2154T>A (p.Asp718Glu)
11g.47338594T>ACA380320314MYBPC3c.2234A>T (p.Asp745Val)
c.2216A>T (p.Asp739Val)
c.2153A>T (p.Asp718Val)
11g.47338594T>CCA011923MYBPC3c.2234A>G (p.Asp745Gly)
c.2216A>G (p.Asp739Gly)
c.2153A>G (p.Asp718Gly)
ClinVar dbSNP
11g.47338594T>GCA380320316MYBPC3c.2234A>C (p.Asp745Ala)
c.2216A>C (p.Asp739Ala)
c.2153A>C (p.Asp718Ala)
11g.47338594T=CA1969332364MYBPC3c.2234A= (p.Asp745=)
c.2216A= (p.Asp739=)
c.2153A= (p.Asp718=)
11g.47338595delCA2573332850MYBPC3c.2233del (p.Asp745MetfsTer9)
c.2215del (p.Asp739MetfsTer9)
c.2152del (p.Asp718MetfsTer9)
11g.47338595C>ACA380320318MYBPC3c.2233G>T (p.Asp745Tyr)
c.2215G>T (p.Asp739Tyr)
c.2152G>T (p.Asp718Tyr)
11g.47338595C>GCA380320320MYBPC3c.2233G>C (p.Asp745His)
c.2215G>C (p.Asp739His)
c.2152G>C (p.Asp718His)
11g.47338595C>TCA380320321MYBPC3c.2233G>A (p.Asp745Asn)
c.2215G>A (p.Asp739Asn)
c.2152G>A (p.Asp718Asn)
11g.47338599_47338602delCA2580615675MYBPC3c.2230_2233del (p.Glu744MetfsTer9)
c.2212_2215del (p.Glu738MetfsTer9)
c.2149_2152del (p.Glu717MetfsTer9)
ClinVar
11g.47338596T>ACA380320323MYBPC3c.2232A>T (p.Glu744Asp)
c.2214A>T (p.Glu738Asp)
c.2151A>T (p.Glu717Asp)
11g.47338596T>CCA474217011MYBPC3c.2232A>G (p.Glu744=)
c.2214A>G (p.Glu738=)
c.2151A>G (p.Glu717=)
11g.47338596T>GCA380320326MYBPC3c.2232A>C (p.Glu744Asp)
c.2214A>C (p.Glu738Asp)
c.2151A>C (p.Glu717Asp)
11g.47338597T>ACA380320331MYBPC3c.2231A>T (p.Glu744Val)
c.2213A>T (p.Glu738Val)
c.2150A>T (p.Glu717Val)
11g.47338597T>CCA380320328MYBPC3c.2231A>G (p.Glu744Gly)
c.2213A>G (p.Glu738Gly)
c.2150A>G (p.Glu717Gly)
ClinVar dbSNP
11g.47338597T>GCA380320330MYBPC3c.2231A>C (p.Glu744Ala)
c.2213A>C (p.Glu738Ala)
c.2150A>C (p.Glu717Ala)
11g.47338598C>ACA380320332MYBPC3c.2230G>T (p.Glu744Ter)
c.2212G>T (p.Glu738Ter)
c.2149G>T (p.Glu717Ter)
11g.47338598C>GCA380320334MYBPC3c.2230G>C (p.Glu744Gln)
c.2212G>C (p.Glu738Gln)
c.2149G>C (p.Glu717Gln)
11g.47338598C>TCA380320336MYBPC3c.2230G>A (p.Glu744Lys)
c.2212G>A (p.Glu738Lys)
c.2149G>A (p.Glu717Lys)
COSMIC COSMIC
11g.47338599delCA2695212768MYBPC3c.2230del (p.Glu744LysfsTer10)
c.2212del (p.Glu738LysfsTer10)
c.2149del (p.Glu717LysfsTer10)
11g.47338599C>ACA380320338MYBPC3c.2229G>T (p.Lys743Asn)
c.2211G>T (p.Lys737Asn)
c.2148G>T (p.Lys716Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47338599C=CA1969332369MYBPC3c.2229G= (p.Lys743=)
c.2211G= (p.Lys737=)
c.2148G= (p.Lys716=)
11g.47338599C>GCA380320340MYBPC3c.2229G>C (p.Lys743Asn)
c.2211G>C (p.Lys737Asn)
c.2148G>C (p.Lys716Asn)
11g.47338599C>TCA474217013MYBPC3c.2229G>A (p.Lys743=)
c.2211G>A (p.Lys737=)
c.2148G>A (p.Lys716=)
11g.47338600T>ACA380320342MYBPC3c.2228A>T (p.Lys743Met)
c.2210A>T (p.Lys737Met)
c.2147A>T (p.Lys716Met)
11g.47338600T>CCA380320347MYBPC3c.2228A>G (p.Lys743Arg)
c.2210A>G (p.Lys737Arg)
c.2147A>G (p.Lys716Arg)
11g.47338600T>GCA380320349MYBPC3c.2228A>C (p.Lys743Thr)
c.2210A>C (p.Lys737Thr)
c.2147A>C (p.Lys716Thr)
11g.47338601T>ACA380320352MYBPC3c.2227A>T (p.Lys743Ter)
c.2209A>T (p.Lys737Ter)
c.2146A>T (p.Lys716Ter)
11g.47338601T>CCA380320354MYBPC3c.2227A>G (p.Lys743Glu)
c.2209A>G (p.Lys737Glu)
c.2146A>G (p.Lys716Glu)
11g.47338601T>GCA380320356MYBPC3c.2227A>C (p.Lys743Gln)
c.2209A>C (p.Lys737Gln)
c.2146A>C (p.Lys716Gln)
11g.47338602C>ACA380320358MYBPC3c.2226G>T (p.Glu742Asp)
c.2208G>T (p.Glu736Asp)
c.2145G>T (p.Glu715Asp)
11g.47338602C>GCA380320360MYBPC3c.2226G>C (p.Glu742Asp)
c.2208G>C (p.Glu736Asp)
c.2145G>C (p.Glu715Asp)
11g.47338602C>TCA474217016MYBPC3c.2226G>A (p.Glu742=)
c.2208G>A (p.Glu736=)
c.2145G>A (p.Glu715=)
11g.47338603T>ACA380320364MYBPC3c.2225A>T (p.Glu742Val)
c.2207A>T (p.Glu736Val)
c.2144A>T (p.Glu715Val)
11g.47338603T>CCA380320365MYBPC3c.2225A>G (p.Glu742Gly)
c.2207A>G (p.Glu736Gly)
c.2144A>G (p.Glu715Gly)
11g.47338603T>GCA380320362MYBPC3c.2225A>C (p.Glu742Ala)
c.2207A>C (p.Glu736Ala)
c.2144A>C (p.Glu715Ala)
11g.47338604C>ACA380320370MYBPC3c.2224G>T (p.Glu742Ter)
c.2206G>T (p.Glu736Ter)
c.2143G>T (p.Glu715Ter)
11g.47338604C=CA1969332371MYBPC3c.2224G= (p.Glu742=)
c.2206G= (p.Glu736=)
c.2143G= (p.Glu715=)
11g.47338604C>GCA380320369MYBPC3c.2224G>C (p.Glu742Gln)
c.2206G>C (p.Glu736Gln)
c.2143G>C (p.Glu715Gln)
gnomAD v4
11g.47338604C>TCA380320371MYBPC3c.2224G>A (p.Glu742Lys)
c.2206G>A (p.Glu736Lys)
c.2143G>A (p.Glu715Lys)
dbSNP
11g.47338604_47338605insGGCA2791323022MYBPC3c.2223_2224insCC (p.Glu742ProfsTer13)
c.2205_2206insCC (p.Glu736ProfsTer13)
c.2142_2143insCC (p.Glu715ProfsTer13)
11g.47338605T>ACA474217021MYBPC3c.2223A>T (p.Ala741=)
c.2205A>T (p.Ala735=)
c.2142A>T (p.Ala714=)
11g.47338605T>CCA474217019MYBPC3c.2223A>G (p.Ala741=)
c.2205A>G (p.Ala735=)
c.2142A>G (p.Ala714=)
dbSNP
11g.47338605T>GCA474217020MYBPC3c.2223A>C (p.Ala741=)
c.2205A>C (p.Ala735=)
c.2142A>C (p.Ala714=)
11g.47338605T=CA1969332375MYBPC3c.2223A= (p.Ala741=)
c.2205A= (p.Ala735=)
c.2142A= (p.Ala714=)
11g.47338608_47338627delCA2695212769MYBPC3c.2204_2223del (p.Ile735ArgfsTer5)
c.2186_2205del (p.Ile729ArgfsTer5)
c.2123_2142del (p.Ile708ArgfsTer5)
11g.47338606G>ACA380320374MYBPC3c.2222C>T (p.Ala741Val)
c.2204C>T (p.Ala735Val)
c.2141C>T (p.Ala714Val)
11g.47338606G>CCA380320377MYBPC3c.2222C>G (p.Ala741Gly)
c.2204C>G (p.Ala735Gly)
c.2141C>G (p.Ala714Gly)
11g.47338606G>TCA380320375MYBPC3c.2222C>A (p.Ala741Glu)
c.2204C>A (p.Ala735Glu)
c.2141C>A (p.Ala714Glu)
11g.47338606_47338607delinsGCCA1969332377MYBPC3c.2221_2222delinsGC (p.Ala741=)
c.2203_2204delinsGC (p.Ala735=)
c.2140_2141delinsGC (p.Ala714=)
11g.47338607C>ACA380320380MYBPC3c.2221G>T (p.Ala741Ser)
c.2203G>T (p.Ala735Ser)
c.2140G>T (p.Ala714Ser)
dbSNP gnomAD v2 gnomAD v4
11g.47338607C=CA1969332382MYBPC3c.2221G= (p.Ala741=)
c.2203G= (p.Ala735=)
c.2140G= (p.Ala714=)
11g.47338607C>GCA380320381MYBPC3c.2221G>C (p.Ala741Pro)
c.2203G>C (p.Ala735Pro)
c.2140G>C (p.Ala714Pro)
11g.47338607C>TCA380320383MYBPC3c.2221G>A (p.Ala741Thr)
c.2203G>A (p.Ala735Thr)
c.2140G>A (p.Ala714Thr)
11g.47338611dupCA2573147064MYBPC3c.2221dup (p.Ala741GlyfsTer6)
c.2203dup (p.Ala735GlyfsTer6)
c.2140dup (p.Ala714GlyfsTer6)
ClinVar dbSNP
11g.47338611delCA011913MYBPC3c.2221del (p.Ala741GlnfsTer13)
c.2203del (p.Ala735GlnfsTer13)
c.2140del (p.Ala714GlnfsTer13)
ClinVar dbSNP
11g.47338608_47338611delCA2791323024MYBPC3c.2218_2221del (p.Gly740GlnfsTer13)
c.2200_2203del (p.Gly734GlnfsTer13)
c.2137_2140del (p.Gly713GlnfsTer13)
11g.47338608C>ACA474217026MYBPC3c.2220G>T (p.Gly740=)
c.2202G>T (p.Gly734=)
c.2139G>T (p.Gly713=)
11g.47338608C=CA1969332385MYBPC3c.2220G= (p.Gly740=)
c.2202G= (p.Gly734=)
c.2139G= (p.Gly713=)
11g.47338608C>GCA474217027MYBPC3c.2220G>C (p.Gly740=)
c.2202G>C (p.Gly734=)
c.2139G>C (p.Gly713=)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47338608C>TCA474217028MYBPC3c.2220G>A (p.Gly740=)
c.2202G>A (p.Gly734=)
c.2139G>A (p.Gly713=)
11g.47338609C>ACA380320386MYBPC3c.2219G>T (p.Gly740Val)
c.2201G>T (p.Gly734Val)
c.2138G>T (p.Gly713Val)
11g.47338609C=CA1969332388MYBPC3c.2219G= (p.Gly740=)
c.2201G= (p.Gly734=)
c.2138G= (p.Gly713=)
11g.47338609C>GCA380320388MYBPC3c.2219G>C (p.Gly740Ala)
c.2201G>C (p.Gly734Ala)
c.2138G>C (p.Gly713Ala)
dbSNP gnomAD v4
11g.47338609C>TCA380320390MYBPC3c.2219G>A (p.Gly740Glu)
c.2201G>A (p.Gly734Glu)
c.2138G>A (p.Gly713Glu)
11g.47338610C>ACA380320392MYBPC3c.2218G>T (p.Gly740Trp)
c.2200G>T (p.Gly734Trp)
c.2137G>T (p.Gly713Trp)
gnomAD v4
11g.47338610C>GCA380320393MYBPC3c.2218G>C (p.Gly740Arg)
c.2200G>C (p.Gly734Arg)
c.2137G>C (p.Gly713Arg)
11g.47338610C>TCA380320395MYBPC3c.2218G>A (p.Gly740Arg)
c.2200G>A (p.Gly734Arg)
c.2137G>A (p.Gly713Arg)
11g.47338611C>ACA011909MYBPC3c.2217G>T (p.Glu739Asp)
c.2199G>T (p.Glu733Asp)
c.2136G>T (p.Glu712Asp)
ClinVar dbSNP
11g.47338611C=CA1969332393MYBPC3c.2217G= (p.Glu739=)
c.2199G= (p.Glu733=)
c.2136G= (p.Glu712=)
11g.47338611C>GCA380320398MYBPC3c.2217G>C (p.Glu739Asp)
c.2199G>C (p.Glu733Asp)
c.2136G>C (p.Glu712Asp)
11g.47338611C>TCA16613616MYBPC3c.2217G>A (p.Glu739=)
c.2199G>A (p.Glu733=)
c.2136G>A (p.Glu712=)
ClinVar dbSNP
11g.47338612T>ACA380320403MYBPC3c.2216A>T (p.Glu739Val)
c.2198A>T (p.Glu733Val)
c.2135A>T (p.Glu712Val)
11g.47338612T>CCA380320401MYBPC3c.2216A>G (p.Glu739Gly)
c.2198A>G (p.Glu733Gly)
c.2135A>G (p.Glu712Gly)
11g.47338612T>GCA380320402MYBPC3c.2216A>C (p.Glu739Ala)
c.2198A>C (p.Glu733Ala)
c.2135A>C (p.Glu712Ala)
11g.47338613C>ACA380320406MYBPC3c.2215G>T (p.Glu739Ter)
c.2197G>T (p.Glu733Ter)
c.2134G>T (p.Glu712Ter)
11g.47338613C=CA1969332403MYBPC3c.2215G= (p.Glu739=)
c.2197G= (p.Glu733=)
c.2134G= (p.Glu712=)
11g.47338613C>GCA380320407MYBPC3c.2215G>C (p.Glu739Gln)
c.2197G>C (p.Glu733Gln)
c.2134G>C (p.Glu712Gln)
gnomAD v4
11g.47338613C>TCA380320408MYBPC3c.2215G>A (p.Glu739Lys)
c.2197G>A (p.Glu733Lys)
c.2134G>A (p.Glu712Lys)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
11g.47338614G>ACA078593MYBPC3c.2214C>T (p.Val738=)
c.2196C>T (p.Val732=)
c.2133C>T (p.Val711=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338614G>CCA474217030MYBPC3c.2214C>G (p.Val738=)
c.2196C>G (p.Val732=)
c.2133C>G (p.Val711=)
11g.47338614G=CA1969332405MYBPC3c.2214C= (p.Val738=)
c.2196C= (p.Val732=)
c.2133C= (p.Val711=)
11g.47338614G>TCA474217031MYBPC3c.2214C>A (p.Val738=)
c.2196C>A (p.Val732=)
c.2133C>A (p.Val711=)
gnomAD v4
11g.47338615delCA2791323029MYBPC3c.2213del (p.Val738AlafsTer16)
c.2195del (p.Val732AlafsTer16)
c.2132del (p.Val711AlafsTer16)
11g.47338615A>CCA380320410MYBPC3c.2213T>G (p.Val738Gly)
c.2195T>G (p.Val732Gly)
c.2132T>G (p.Val711Gly)
11g.47338615A>GCA380320412MYBPC3c.2213T>C (p.Val738Ala)
c.2195T>C (p.Val732Ala)
c.2132T>C (p.Val711Ala)
gnomAD v4
11g.47338615A>TCA380320414MYBPC3c.2213T>A (p.Val738Asp)
c.2195T>A (p.Val732Asp)
c.2132T>A (p.Val711Asp)
11g.47338616C>ACA380320417MYBPC3c.2212G>T (p.Val738Phe)
c.2194G>T (p.Val732Phe)
c.2131G>T (p.Val711Phe)
11g.47338616C>GCA380320418MYBPC3c.2212G>C (p.Val738Leu)
c.2194G>C (p.Val732Leu)
c.2131G>C (p.Val711Leu)
11g.47338616C>TCA380320419MYBPC3c.2212G>A (p.Val738Ile)
c.2194G>A (p.Val732Ile)
c.2131G>A (p.Val711Ile)
11g.47338617C>ACA474217035MYBPC3c.2211G>T (p.Thr737=)
c.2193G>T (p.Thr731=)
c.2130G>T (p.Thr710=)
ClinVar dbSNP
11g.47338617C=CA1969332409MYBPC3c.2211G= (p.Thr737=)
c.2193G= (p.Thr731=)
c.2130G= (p.Thr710=)
11g.47338617C>GCA474217036MYBPC3c.2211G>C (p.Thr737=)
c.2193G>C (p.Thr731=)
c.2130G>C (p.Thr710=)
11g.47338617C>TCA078590MYBPC3c.2211G>A (p.Thr737=)
c.2193G>A (p.Thr731=)
c.2130G>A (p.Thr710=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.47338618G>ACA011903MYBPC3c.2210C>T (p.Thr737Met)
c.2192C>T (p.Thr731Met)
c.2129C>T (p.Thr710Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338618G>CCA380320423MYBPC3c.2210C>G (p.Thr737Arg)
c.2192C>G (p.Thr731Arg)
c.2129C>G (p.Thr710Arg)
COSMIC COSMIC
11g.47338618G=CA1969332414MYBPC3c.2210C= (p.Thr737=)
c.2192C= (p.Thr731=)
c.2129C= (p.Thr710=)
11g.47338618G>TCA380320421MYBPC3c.2210C>A (p.Thr737Lys)
c.2192C>A (p.Thr731Lys)
c.2129C>A (p.Thr710Lys)
dbSNP
11g.47338619T>ACA380320427MYBPC3c.2209A>T (p.Thr737Ser)
c.2191A>T (p.Thr731Ser)
c.2128A>T (p.Thr710Ser)
11g.47338619T>CCA221689945MYBPC3c.2209A>G (p.Thr737Ala)
c.2191A>G (p.Thr731Ala)
c.2128A>G (p.Thr710Ala)
dbSNP gnomAD v4
11g.47338619T>GCA380320426MYBPC3c.2209A>C (p.Thr737Pro)
c.2191A>C (p.Thr731Pro)
c.2128A>C (p.Thr710Pro)
11g.47338619T=CA1969332417MYBPC3c.2209A= (p.Thr737=)
c.2191A= (p.Thr731=)
c.2128A= (p.Thr710=)
11g.47338619_47338620insATCATTAAAAAAAAAAGACA2791323033MYBPC3c.2208_2209insTCTTTTTTTTTTAATGAT (p.Phe736_Thr737insSerPhePhePheAsnAsp)
c.2190_2191insTCTTTTTTTTTTAATGAT (p.Phe730_Thr731insSerPhePhePheAsnAsp)
c.2127_2128insTCTTTTTTTTTTAATGAT (p.Phe709_Thr710insSerPhePhePheAsnAsp)
11g.47338620G>ACA474217038MYBPC3c.2208C>T (p.Phe736=)
c.2190C>T (p.Phe730=)
c.2127C>T (p.Phe709=)
gnomAD v4
11g.47338620G>CCA380320430MYBPC3c.2208C>G (p.Phe736Leu)
c.2190C>G (p.Phe730Leu)
c.2127C>G (p.Phe709Leu)
11g.47338620G=CA1969332420MYBPC3c.2208C= (p.Phe736=)
c.2190C= (p.Phe730=)
c.2127C= (p.Phe709=)
11g.47338620G>TCA380320432MYBPC3c.2208C>A (p.Phe736Leu)
c.2190C>A (p.Phe730Leu)
c.2127C>A (p.Phe709Leu)
ClinVar dbSNP gnomAD v4
11g.47338621A>CCA380320433MYBPC3c.2207T>G (p.Phe736Cys)
c.2189T>G (p.Phe730Cys)
c.2126T>G (p.Phe709Cys)
gnomAD v4
11g.47338621A>GCA380320435MYBPC3c.2207T>C (p.Phe736Ser)
c.2189T>C (p.Phe730Ser)
c.2126T>C (p.Phe709Ser)
11g.47338621A>TCA380320437MYBPC3c.2207T>A (p.Phe736Tyr)
c.2189T>A (p.Phe730Tyr)
c.2126T>A (p.Phe709Tyr)
11g.47338622A>CCA380320439MYBPC3c.2206T>G (p.Phe736Val)
c.2188T>G (p.Phe730Val)
c.2125T>G (p.Phe709Val)
11g.47338622A>GCA380320442MYBPC3c.2206T>C (p.Phe736Leu)
c.2188T>C (p.Phe730Leu)
c.2125T>C (p.Phe709Leu)
11g.47338622A>TCA380320440MYBPC3c.2206T>A (p.Phe736Ile)
c.2188T>A (p.Phe730Ile)
c.2125T>A (p.Phe709Ile)
11g.47338623G>ACA474217039MYBPC3c.2205C>T (p.Ile735=)
c.2187C>T (p.Ile729=)
c.2124C>T (p.Ile708=)
ClinVar
11g.47338623G>CCA380320444MYBPC3c.2205C>G (p.Ile735Met)
c.2187C>G (p.Ile729Met)
c.2124C>G (p.Ile708Met)
11g.47338623G>TCA474217040MYBPC3c.2205C>A (p.Ile735=)
c.2187C>A (p.Ile729=)
c.2124C>A (p.Ile708=)
11g.47338624A>CCA380320446MYBPC3c.2204T>G (p.Ile735Ser)
c.2186T>G (p.Ile729Ser)
c.2123T>G (p.Ile708Ser)
11g.47338624A>GCA380320448MYBPC3c.2204T>C (p.Ile735Thr)
c.2186T>C (p.Ile729Thr)
c.2123T>C (p.Ile708Thr)
11g.47338624A>TCA380320450MYBPC3c.2204T>A (p.Ile735Asn)
c.2186T>A (p.Ile729Asn)
c.2123T>A (p.Ile708Asn)
11g.47338625T>ACA380320453MYBPC3c.2203A>T (p.Ile735Phe)
c.2185A>T (p.Ile729Phe)
c.2122A>T (p.Ile708Phe)
11g.47338625T>CCA380320456MYBPC3c.2203A>G (p.Ile735Val)
c.2185A>G (p.Ile729Val)
c.2122A>G (p.Ile708Val)
dbSNP
11g.47338625T>GCA380320455MYBPC3c.2203A>C (p.Ile735Leu)
c.2185A>C (p.Ile729Leu)
c.2122A>C (p.Ile708Leu)
11g.47338625T=CA1969332422MYBPC3c.2203A= (p.Ile735=)
c.2185A= (p.Ile729=)
c.2122A= (p.Ile708=)
11g.47338626G>ACA078587MYBPC3c.2202C>T (p.Ser734=)
c.2184C>T (p.Ser728=)
c.2121C>T (p.Ser707=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47338626G>CCA380320460MYBPC3c.2202C>G (p.Ser734Arg)
c.2184C>G (p.Ser728Arg)
c.2121C>G (p.Ser707Arg)
11g.47338626G=CA1969332424MYBPC3c.2202C= (p.Ser734=)
c.2184C= (p.Ser728=)
c.2121C= (p.Ser707=)
11g.47338626G>TCA380320462MYBPC3c.2202C>A (p.Ser734Arg)
c.2184C>A (p.Ser728Arg)
c.2121C>A (p.Ser707Arg)
11g.47338627C>ACA380320465MYBPC3c.2201G>T (p.Ser734Ile)
c.2183G>T (p.Ser728Ile)
c.2120G>T (p.Ser707Ile)
11g.47338627C>GCA380320467MYBPC3c.2201G>C (p.Ser734Thr)
c.2183G>C (p.Ser728Thr)
c.2120G>C (p.Ser707Thr)
11g.47338627C>TCA380320469MYBPC3c.2201G>A (p.Ser734Asn)
c.2183G>A (p.Ser728Asn)
c.2120G>A (p.Ser707Asn)
ClinVar dbSNP
11g.47338628T>ACA380320471MYBPC3c.2200A>T (p.Ser734Cys)
c.2182A>T (p.Ser728Cys)
c.2119A>T (p.Ser707Cys)
11g.47338628T>CCA011895MYBPC3c.2200A>G (p.Ser734Gly)
c.2182A>G (p.Ser728Gly)
c.2119A>G (p.Ser707Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47338628T>GCA380320474MYBPC3c.2200A>C (p.Ser734Arg)
c.2182A>C (p.Ser728Arg)
c.2119A>C (p.Ser707Arg)
11g.47338628T=CA1969332427MYBPC3c.2200A= (p.Ser734=)
c.2182A= (p.Ser728=)
c.2119A= (p.Ser707=)
11g.47338629G>ACA048805MYBPC3c.2199C>T (p.Arg733=)
c.2181C>T (p.Arg727=)
c.2118C>T (p.Arg706=)
11g.47338629G>CCA474217042MYBPC3c.2199C>G (p.Arg733=)
c.2181C>G (p.Arg727=)
c.2118C>G (p.Arg706=)
11g.47338629G=CA1969332429MYBPC3c.2199C= (p.Arg733=)
c.2181C= (p.Arg727=)
c.2118C= (p.Arg706=)
11g.47338629G>TCA474217043MYBPC3c.2199C>A (p.Arg733=)
c.2181C>A (p.Arg727=)
c.2118C>A (p.Arg706=)
dbSNP
11g.47338630C>ACA078583MYBPC3c.2198G>T (p.Arg733Leu)
c.2180G>T (p.Arg727Leu)
c.2117G>T (p.Arg706Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47338630C=CA1969332436MYBPC3c.2198G= (p.Arg733=)
c.2180G= (p.Arg727=)
c.2117G= (p.Arg706=)
11g.47338630C>GCA380320477MYBPC3c.2198G>C (p.Arg733Pro)
c.2180G>C (p.Arg727Pro)
c.2117G>C (p.Arg706Pro)
11g.47338630C>TCA011887MYBPC3c.2198G>A (p.Arg733His)
c.2180G>A (p.Arg727His)
c.2117G>A (p.Arg706His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.47338631G>ACA011877MYBPC3c.2197C>T (p.Arg733Cys)
c.2179C>T (p.Arg727Cys)
c.2116C>T (p.Arg706Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338631G>CCA380320481MYBPC3c.2197C>G (p.Arg733Gly)
c.2179C>G (p.Arg727Gly)
c.2116C>G (p.Arg706Gly)
11g.47338631G=CA1969332448MYBPC3c.2197C= (p.Arg733=)
c.2179C= (p.Arg727=)
c.2116C= (p.Arg706=)
11g.47338631G>TCA011872MYBPC3c.2197C>A (p.Arg733Ser)
c.2179C>A (p.Arg727Ser)
c.2116C>A (p.Arg706Ser)
ClinVar dbSNP
11g.47338632G>ACA011863MYBPC3c.2196C>T (p.Asp732=)
c.2178C>T (p.Asp726=)
c.2115C>T (p.Asp705=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47338632G>CCA380320487MYBPC3c.2196C>G (p.Asp732Glu)
c.2178C>G (p.Asp726Glu)
c.2115C>G (p.Asp705Glu)
11g.47338632G=CA1969332456MYBPC3c.2196C= (p.Asp732=)
c.2178C= (p.Asp726=)
c.2115C= (p.Asp705=)
11g.47338632G>TCA380320484MYBPC3c.2196C>A (p.Asp732Glu)
c.2178C>A (p.Asp726Glu)
c.2115C>A (p.Asp705Glu)
11g.47338633delCA2580084170MYBPC3c.2195del (p.Asp732AlafsTer22)
c.2177del (p.Asp726AlafsTer22)
c.2114del (p.Asp705AlafsTer22)
ClinVar
11g.47338633T>ACA380320489MYBPC3c.2195A>T (p.Asp732Val)
c.2177A>T (p.Asp726Val)
c.2114A>T (p.Asp705Val)
11g.47338633T>CCA380320490MYBPC3c.2195A>G (p.Asp732Gly)
c.2177A>G (p.Asp726Gly)
c.2114A>G (p.Asp705Gly)
11g.47338633T>GCA380320492MYBPC3c.2195A>C (p.Asp732Ala)
c.2177A>C (p.Asp726Ala)
c.2114A>C (p.Asp705Ala)
11g.47338634C>ACA048738MYBPC3c.2194G>T (p.Asp732Tyr)
c.2176G>T (p.Asp726Tyr)
c.2113G>T (p.Asp705Tyr)
dbSNP ExAC
11g.47338634C=CA1969332460MYBPC3c.2194G= (p.Asp732=)
c.2176G= (p.Asp726=)
c.2113G= (p.Asp705=)
11g.47338634C>GCA380320495MYBPC3c.2194G>C (p.Asp732His)
c.2176G>C (p.Asp726His)
c.2113G>C (p.Asp705His)
11g.47338634C>TCA380320497MYBPC3c.2194G>A (p.Asp732Asn)
c.2176G>A (p.Asp726Asn)
c.2113G>A (p.Asp705Asn)
11g.47338635C>ACA380320499MYBPC3c.2193G>T (p.Lys731Asn)
c.2175G>T (p.Lys725Asn)
c.2112G>T (p.Lys704Asn)
ClinVar
11g.47338635C=CA1969332464MYBPC3c.2193G= (p.Lys731=)
c.2175G= (p.Lys725=)
c.2112G= (p.Lys704=)
11g.47338635C>GCA380320501MYBPC3c.2193G>C (p.Lys731Asn)
c.2175G>C (p.Lys725Asn)
c.2112G>C (p.Lys704Asn)
dbSNP gnomAD v2
11g.47338635C>TCA474217050MYBPC3c.2193G>A (p.Lys731=)
c.2175G>A (p.Lys725=)
c.2112G>A (p.Lys704=)
dbSNP
11g.47338636T>ACA380320503MYBPC3c.2192A>T (p.Lys731Met)
c.2174A>T (p.Lys725Met)
c.2111A>T (p.Lys704Met)
11g.47338636T>CCA380320505MYBPC3c.2192A>G (p.Lys731Arg)
c.2174A>G (p.Lys725Arg)
c.2111A>G (p.Lys704Arg)
11g.47338636T>GCA380320506MYBPC3c.2192A>C (p.Lys731Thr)
c.2174A>C (p.Lys725Thr)
c.2111A>C (p.Lys704Thr)
11g.47338637T>ACA380320512MYBPC3c.2191A>T (p.Lys731Ter)
c.2173A>T (p.Lys725Ter)
c.2110A>T (p.Lys704Ter)
11g.47338637T>CCA380320510MYBPC3c.2191A>G (p.Lys731Glu)
c.2173A>G (p.Lys725Glu)
c.2110A>G (p.Lys704Glu)
11g.47338637T>GCA380320508MYBPC3c.2191A>C (p.Lys731Gln)
c.2173A>C (p.Lys725Gln)
c.2110A>C (p.Lys704Gln)
11g.47338637_47338638delinsTGCA1969332467MYBPC3c.2190_2191delinsCA (p.Thr730=)
c.2172_2173delinsCA (p.Thr724=)
c.2109_2110delinsCA (p.Thr703=)
11g.47338641_47338643delCA2580615676MYBPC3c.2189_2191del (p.Thr730del)
c.2171_2173del (p.Thr724del)
c.2108_2110del (p.Thr703del)
ClinVar
11g.47338638G>ACA474217052MYBPC3c.2190C>T (p.Thr730=)
c.2172C>T (p.Thr724=)
c.2109C>T (p.Thr703=)
11g.47338638G>CCA474217053MYBPC3c.2190C>G (p.Thr730=)
c.2172C>G (p.Thr724=)
c.2109C>G (p.Thr703=)
11g.47338638G=CA1969332476MYBPC3c.2190C= (p.Thr730=)
c.2172C= (p.Thr724=)
c.2109C= (p.Thr703=)
11g.47338638G>TCA10582917MYBPC3c.2190C>A (p.Thr730=)
c.2172C>A (p.Thr724=)
c.2109C>A (p.Thr703=)
ClinVar dbSNP gnomAD v4
11g.47338639delCA658797628MYBPC3c.2190del (p.Lys731ArgfsTer23)
c.2172del (p.Lys725ArgfsTer23)
c.2109del (p.Lys704ArgfsTer23)
ClinVar dbSNP
11g.47338639G>ACA011857MYBPC3c.2189C>T (p.Thr730Ile)
c.2171C>T (p.Thr724Ile)
c.2108C>T (p.Thr703Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47338639G>CCA380320518MYBPC3c.2189C>G (p.Thr730Ser)
c.2171C>G (p.Thr724Ser)
c.2108C>G (p.Thr703Ser)
gnomAD v4
11g.47338639G=CA1969332484MYBPC3c.2189C= (p.Thr730=)
c.2171C= (p.Thr724=)
c.2108C= (p.Thr703=)
11g.47338639G>TCA380320520MYBPC3c.2189C>A (p.Thr730Asn)
c.2171C>A (p.Thr724Asn)
c.2108C>A (p.Thr703Asn)
11g.47338640delCA2613393749MYBPC3c.2188del (p.Thr730ProfsTer24)
c.2170del (p.Thr724ProfsTer24)
c.2107del (p.Thr703ProfsTer24)
gnomAD v4
11g.47338640T>ACA380320523MYBPC3c.2188A>T (p.Thr730Ser)
c.2170A>T (p.Thr724Ser)
c.2107A>T (p.Thr703Ser)
11g.47338640T>CCA380320524MYBPC3c.2188A>G (p.Thr730Ala)
c.2170A>G (p.Thr724Ala)
c.2107A>G (p.Thr703Ala)
11g.47338640T>GCA078576MYBPC3c.2188A>C (p.Thr730Pro)
c.2170A>C (p.Thr724Pro)
c.2107A>C (p.Thr703Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47338640T=CA1969332486MYBPC3c.2188A= (p.Thr730=)
c.2170A= (p.Thr724=)
c.2107A= (p.Thr703=)
11g.47338641G>ACA078574MYBPC3c.2187C>T (p.Thr729=)
c.2169C>T (p.Thr723=)
c.2106C>T (p.Thr702=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338641G>CCA474217056MYBPC3c.2187C>G (p.Thr729=)
c.2169C>G (p.Thr723=)
c.2106C>G (p.Thr702=)
11g.47338641G=CA1969332487MYBPC3c.2187C= (p.Thr729=)
c.2169C= (p.Thr723=)
c.2106C= (p.Thr702=)
11g.47338641G>TCA474217055MYBPC3c.2187C>A (p.Thr729=)
c.2169C>A (p.Thr723=)
c.2106C>A (p.Thr702=)
11g.47338642G>ACA048708MYBPC3c.2186C>T (p.Thr729Ile)
c.2168C>T (p.Thr723Ile)
c.2105C>T (p.Thr702Ile)
11g.47338642G>CCA380320529MYBPC3c.2186C>G (p.Thr729Ser)
c.2168C>G (p.Thr723Ser)
c.2105C>G (p.Thr702Ser)
11g.47338642G=CA1969332490MYBPC3c.2186C= (p.Thr729=)
c.2168C= (p.Thr723=)
c.2105C= (p.Thr702=)
11g.47338642G>TCA380320531MYBPC3c.2186C>A (p.Thr729Asn)
c.2168C>A (p.Thr723Asn)
c.2105C>A (p.Thr702Asn)
dbSNP gnomAD v3 gnomAD v4
11g.47338643T>ACA380320535MYBPC3c.2185A>T (p.Thr729Ser)
c.2167A>T (p.Thr723Ser)
c.2104A>T (p.Thr702Ser)
gnomAD v4
11g.47338643T>CCA380320534MYBPC3c.2185A>G (p.Thr729Ala)
c.2167A>G (p.Thr723Ala)
c.2104A>G (p.Thr702Ala)
11g.47338643T>GCA048688MYBPC3c.2185A>C (p.Thr729Pro)
c.2167A>C (p.Thr723Pro)
c.2104A>C (p.Thr702Pro)
11g.47338644C>ACA380320536MYBPC3c.2184G>T (p.Glu728Asp)
c.2166G>T (p.Glu722Asp)
c.2103G>T (p.Glu701Asp)
11g.47338644C=CA1969332494MYBPC3c.2184G= (p.Glu728=)
c.2166G= (p.Glu722=)
c.2103G= (p.Glu701=)
11g.47338644C>GCA380320538MYBPC3c.2184G>C (p.Glu728Asp)
c.2166G>C (p.Glu722Asp)
c.2103G>C (p.Glu701Asp)
ClinVar dbSNP
11g.47338644C>TCA474217060MYBPC3c.2184G>A (p.Glu728=)
c.2166G>A (p.Glu722=)
c.2103G>A (p.Glu701=)
11g.47338645T>ACA380320539MYBPC3c.2183A>T (p.Glu728Val)
c.2165A>T (p.Glu722Val)
c.2102A>T (p.Glu701Val)
11g.47338645T>CCA380320541MYBPC3c.2183A>G (p.Glu728Gly)
c.2165A>G (p.Glu722Gly)
c.2102A>G (p.Glu701Gly)
gnomAD v4
11g.47338645T>GCA380320543MYBPC3c.2183A>C (p.Glu728Ala)
c.2165A>C (p.Glu722Ala)
c.2102A>C (p.Glu701Ala)
11g.47338646C>ACA011848MYBPC3c.2182G>T (p.Glu728Ter)
c.2164G>T (p.Glu722Ter)
c.2101G>T (p.Glu701Ter)
ClinVar dbSNP gnomAD v4
11g.47338646C=CA1969332499MYBPC3c.2182G= (p.Glu728=)
c.2164G= (p.Glu722=)
c.2101G= (p.Glu701=)
11g.47338646C>GCA380320546MYBPC3c.2182G>C (p.Glu728Gln)
c.2164G>C (p.Glu722Gln)
c.2101G>C (p.Glu701Gln)
11g.47338646C>TCA380320548MYBPC3c.2182G>A (p.Glu728Lys)
c.2164G>A (p.Glu722Lys)
c.2101G>A (p.Glu701Lys)
11g.47338647C>ACA474217062MYBPC3c.2181G>T (p.Val727=)
c.2163G>T (p.Val721=)
c.2100G>T (p.Val700=)
11g.47338647C>GCA474217065MYBPC3c.2181G>C (p.Val727=)
c.2163G>C (p.Val721=)
c.2100G>C (p.Val700=)
11g.47338647C>TCA474217063MYBPC3c.2181G>A (p.Val727=)
c.2163G>A (p.Val721=)
c.2100G>A (p.Val700=)
gnomAD v4
11g.47338648A>CCA380320550MYBPC3c.2180T>G (p.Val727Gly)
c.2162T>G (p.Val721Gly)
c.2099T>G (p.Val700Gly)
11g.47338648A>GCA380320552MYBPC3c.2180T>C (p.Val727Ala)
c.2162T>C (p.Val721Ala)
c.2099T>C (p.Val700Ala)
11g.47338648A>TCA380320554MYBPC3c.2180T>A (p.Val727Glu)
c.2162T>A (p.Val721Glu)
c.2099T>A (p.Val700Glu)
gnomAD v4
11g.47338649C>ACA221690025MYBPC3c.2179G>T (p.Val727Leu)
c.2161G>T (p.Val721Leu)
c.2098G>T (p.Val700Leu)
dbSNP gnomAD v2 gnomAD v4
11g.47338649C=CA1969332508MYBPC3c.2179G= (p.Val727=)
c.2161G= (p.Val721=)
c.2098G= (p.Val700=)
11g.47338649C>GCA380320557MYBPC3c.2179G>C (p.Val727Leu)
c.2161G>C (p.Val721Leu)
c.2098G>C (p.Val700Leu)
ClinVar dbSNP
11g.47338649C>TCA011840MYBPC3c.2179G>A (p.Val727Met)
c.2161G>A (p.Val721Met)
c.2098G>A (p.Val700Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.47338650G>ACA011832MYBPC3c.2178C>T (p.Arg726=)
c.2160C>T (p.Arg720=)
c.2097C>T (p.Arg699=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.47338650G>CCA474217066MYBPC3c.2178C>G (p.Arg726=)
c.2160C>G (p.Arg720=)
c.2097C>G (p.Arg699=)
11g.47338650G=CA1969332516MYBPC3c.2178C= (p.Arg726=)
c.2160C= (p.Arg720=)
c.2097C= (p.Arg699=)
11g.47338650G>TCA474217067MYBPC3c.2178C>A (p.Arg726=)
c.2160C>A (p.Arg720=)
c.2097C>A (p.Arg699=)

Number of alleles fetched