Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
11 | g.47338577C>A | CA380320255 | MYBPC3 | c.2251G>T (p.Val751Phe) c.2233G>T (p.Val745Phe) c.2170G>T (p.Val724Phe) | |
11 | g.47338577C>G | CA380320256 | MYBPC3 | c.2251G>C (p.Val751Leu) c.2233G>C (p.Val745Leu) c.2170G>C (p.Val724Leu) | |
11 | g.47338577C>T | CA380320254 | MYBPC3 | c.2251G>A (p.Val751Ile) c.2233G>A (p.Val745Ile) c.2170G>A (p.Val724Ile) | ClinVar gnomAD v4 |
11 | g.47338578C>A | CA474216996 | MYBPC3 | c.2250G>T (p.Thr750=) c.2232G>T (p.Thr744=) c.2169G>T (p.Thr723=) | dbSNP COSMIC COSMIC |
11 | g.47338578C= | CA1969332315 | MYBPC3 | c.2250G= (p.Thr750=) c.2232G= (p.Thr744=) c.2169G= (p.Thr723=) | |
11 | g.47338578C>G | CA474216998 | MYBPC3 | c.2250G>C (p.Thr750=) c.2232G>C (p.Thr744=) c.2169G>C (p.Thr723=) | ClinVar dbSNP |
11 | g.47338578C>T | CA078601 | MYBPC3 | c.2250G>A (p.Thr750=) c.2232G>A (p.Thr744=) c.2169G>A (p.Thr723=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338578_47338579insTAC | CA2573053510 | MYBPC3 | c.2250_2251insTAG c.2232_2233insTAG c.2169_2170insTAG | ClinVar dbSNP |
11 | g.47338579G>A | CA011943 | MYBPC3 | c.2249C>T (p.Thr750Met) c.2231C>T (p.Thr744Met) c.2168C>T (p.Thr723Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338579G>C | CA380320257 | MYBPC3 | c.2249C>G (p.Thr750Arg) c.2231C>G (p.Thr744Arg) c.2168C>G (p.Thr723Arg) | |
11 | g.47338579G= | CA1969332320 | MYBPC3 | c.2249C= (p.Thr750=) c.2231C= (p.Thr744=) c.2168C= (p.Thr723=) | |
11 | g.47338579G>T | CA380320258 | MYBPC3 | c.2249C>A (p.Thr750Lys) c.2231C>A (p.Thr744Lys) c.2168C>A (p.Thr723Lys) | |
11 | g.47338580T>A | CA380320259 | MYBPC3 | c.2248A>T (p.Thr750Ser) c.2230A>T (p.Thr744Ser) c.2167A>T (p.Thr723Ser) | |
11 | g.47338580T>C | CA380320260 | MYBPC3 | c.2248A>G (p.Thr750Ala) c.2230A>G (p.Thr744Ala) c.2167A>G (p.Thr723Ala) | ClinVar |
11 | g.47338580T>G | CA380320261 | MYBPC3 | c.2248A>C (p.Thr750Pro) c.2230A>C (p.Thr744Pro) c.2167A>C (p.Thr723Pro) | |
11 | g.47338581G>A | CA474217000 | MYBPC3 | c.2247C>T (p.Tyr749=) c.2229C>T (p.Tyr743=) c.2166C>T (p.Tyr722=) | ClinVar dbSNP gnomAD v4 |
11 | g.47338581G>C | CA380320262 | MYBPC3 | c.2247C>G (p.Tyr749Ter) c.2229C>G (p.Tyr743Ter) c.2166C>G (p.Tyr722Ter) | |
11 | g.47338581G= | CA1969332324 | MYBPC3 | c.2247C= (p.Tyr749=) c.2229C= (p.Tyr743=) c.2166C= (p.Tyr722=) | |
11 | g.47338581G>T | CA380320263 | MYBPC3 | c.2247C>A (p.Tyr749Ter) c.2229C>A (p.Tyr743Ter) c.2166C>A (p.Tyr722Ter) | dbSNP |
11 | g.47338582T>A | CA380320264 | MYBPC3 | c.2246A>T (p.Tyr749Phe) c.2228A>T (p.Tyr743Phe) c.2165A>T (p.Tyr722Phe) | |
11 | g.47338582T>C | CA380320265 | MYBPC3 | c.2246A>G (p.Tyr749Cys) c.2228A>G (p.Tyr743Cys) c.2165A>G (p.Tyr722Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47338582T>G | CA380320267 | MYBPC3 | c.2246A>C (p.Tyr749Ser) c.2228A>C (p.Tyr743Ser) c.2165A>C (p.Tyr722Ser) | |
11 | g.47338582T= | CA1969332329 | MYBPC3 | c.2246A= (p.Tyr749=) c.2228A= (p.Tyr743=) c.2165A= (p.Tyr722=) | |
11 | g.47338582_47338588delinsTAGACGC | CA1969332327 | MYBPC3 | c.2240_2246delinsGCGTCTA (p.Gly747=) c.2222_2228delinsGCGTCTA (p.Gly741=) c.2159_2165delinsGCGTCTA (p.Gly720=) | |
11 | g.47338583A>C | CA380320269 | MYBPC3 | c.2245T>G (p.Tyr749Asp) c.2227T>G (p.Tyr743Asp) c.2164T>G (p.Tyr722Asp) | |
11 | g.47338583A>G | CA380320271 | MYBPC3 | c.2245T>C (p.Tyr749His) c.2227T>C (p.Tyr743His) c.2164T>C (p.Tyr722His) | |
11 | g.47338583A>T | CA380320273 | MYBPC3 | c.2245T>A (p.Tyr749Asn) c.2227T>A (p.Tyr743Asn) c.2164T>A (p.Tyr722Asn) | |
11 | g.47338583_47338588delinsGAAGG | CA916081644 | MYBPC3 | c.2240_2245delinsCCTTC (p.Gly747AlafsTer7) c.2222_2227delinsCCTTC (p.Gly741AlafsTer7) c.2159_2164delinsCCTTC (p.Gly720AlafsTer7) | ClinVar dbSNP |
11 | g.47338584G>A | CA474217002 | MYBPC3 | c.2244C>T (p.Val748=) c.2226C>T (p.Val742=) c.2163C>T (p.Val721=) | ClinVar dbSNP |
11 | g.47338584G>C | CA474217004 | MYBPC3 | c.2244C>G (p.Val748=) c.2226C>G (p.Val742=) c.2163C>G (p.Val721=) | |
11 | g.47338584G= | CA1969332338 | MYBPC3 | c.2244C= (p.Val748=) c.2226C= (p.Val742=) c.2163C= (p.Val721=) | |
11 | g.47338584G>T | CA474217003 | MYBPC3 | c.2244C>A (p.Val748=) c.2226C>A (p.Val742=) c.2163C>A (p.Val721=) | |
11 | g.47338585A= | CA1969332341 | MYBPC3 | c.2243T= (p.Val748=) c.2225T= (p.Val742=) c.2162T= (p.Val721=) | |
11 | g.47338585A>C | CA380320275 | MYBPC3 | c.2243T>G (p.Val748Gly) c.2225T>G (p.Val742Gly) c.2162T>G (p.Val721Gly) | |
11 | g.47338585A>G | CA380320279 | MYBPC3 | c.2243T>C (p.Val748Ala) c.2225T>C (p.Val742Ala) c.2162T>C (p.Val721Ala) | COSMIC COSMIC |
11 | g.47338585A>T | CA380320277 | MYBPC3 | c.2243T>A (p.Val748Asp) c.2225T>A (p.Val742Asp) c.2162T>A (p.Val721Asp) | |
11 | g.47338585dup | CA2573053511 | MYBPC3 | c.2243dup (p.Tyr749LeufsTer?) c.2225dup (p.Tyr743LeufsTer?) c.2162dup (p.Tyr722LeufsTer?) | ClinVar dbSNP |
11 | g.47338586C>A | CA380320280 | MYBPC3 | c.2242G>T (p.Val748Phe) c.2224G>T (p.Val742Phe) c.2161G>T (p.Val721Phe) | |
11 | g.47338586C= | CA1969332347 | MYBPC3 | c.2242G= (p.Val748=) c.2224G= (p.Val742=) c.2161G= (p.Val721=) | |
11 | g.47338586C>G | CA380320281 | MYBPC3 | c.2242G>C (p.Val748Leu) c.2224G>C (p.Val742Leu) c.2161G>C (p.Val721Leu) | |
11 | g.47338586C>T | CA011935 | MYBPC3 | c.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 |
11 | g.47338586_47338600del | CA2791323019 | MYBPC3 | c.2228_2242del (p.Lys743_Val748delinsIle) c.2210_2224del (p.Lys737_Val742delinsIle) c.2147_2161del (p.Lys716_Val721delinsIle) | |
11 | g.47338587_47338608dup | CA918872606 | MYBPC3 | c.2221_2242dup (p.Val748GlyfsTer6) c.2203_2224dup (p.Val742GlyfsTer6) c.2140_2161dup (p.Val721GlyfsTer6) | dbSNP |
11 | g.47338587G>A | CA078596 | MYBPC3 | c.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 |
11 | g.47338587G>C | CA474217006 | MYBPC3 | c.2241C>G (p.Gly747=) c.2223C>G (p.Gly741=) c.2160C>G (p.Gly720=) | |
11 | g.47338587G= | CA1969332354 | MYBPC3 | c.2241C= (p.Gly747=) c.2223C= (p.Gly741=) c.2160C= (p.Gly720=) | |
11 | g.47338587G>T | CA474217007 | MYBPC3 | c.2241C>A (p.Gly747=) c.2223C>A (p.Gly741=) c.2160C>A (p.Gly720=) | |
11 | g.47338588C>A | CA380320284 | MYBPC3 | c.2240G>T (p.Gly747Val) c.2222G>T (p.Gly741Val) c.2159G>T (p.Gly720Val) | ClinVar dbSNP |
11 | g.47338588C= | CA1969332359 | MYBPC3 | c.2240G= (p.Gly747=) c.2222G= (p.Gly741=) c.2159G= (p.Gly720=) | |
11 | g.47338588C>G | CA380320285 | MYBPC3 | c.2240G>C (p.Gly747Ala) c.2222G>C (p.Gly741Ala) c.2159G>C (p.Gly720Ala) | |
11 | g.47338588C>T | CA380320287 | MYBPC3 | c.2240G>A (p.Gly747Asp) c.2222G>A (p.Gly741Asp) c.2159G>A (p.Gly720Asp) | ClinVar dbSNP |
11 | g.47338590del | CA2580084167 | MYBPC3 | c.2240del (p.Gly747AlafsTer7) c.2222del (p.Gly741AlafsTer7) c.2159del (p.Gly720AlafsTer7) | ClinVar |
11 | g.47338589C>A | CA380320289 | MYBPC3 | c.2239G>T (p.Gly747Cys) c.2221G>T (p.Gly741Cys) c.2158G>T (p.Gly720Cys) | |
11 | g.47338589C>G | CA380320291 | MYBPC3 | c.2239G>C (p.Gly747Arg) c.2221G>C (p.Gly741Arg) c.2158G>C (p.Gly720Arg) | |
11 | g.47338589C>T | CA048872 | MYBPC3 | c.2239G>A (p.Gly747Ser) c.2221G>A (p.Gly741Ser) c.2158G>A (p.Gly720Ser) | |
11 | g.47338590C>A | CA380320294 | MYBPC3 | c.2238G>T (p.Glu746Asp) c.2220G>T (p.Glu740Asp) c.2157G>T (p.Glu719Asp) | |
11 | g.47338590C>G | CA380320296 | MYBPC3 | c.2238G>C (p.Glu746Asp) c.2220G>C (p.Glu740Asp) c.2157G>C (p.Glu719Asp) | gnomAD v4 |
11 | g.47338590C>T | CA474217008 | MYBPC3 | c.2238G>A (p.Glu746=) c.2220G>A (p.Glu740=) c.2157G>A (p.Glu719=) | |
11 | g.47338591del | CA2695212767 | MYBPC3 | c.2237del (p.Glu746GlyfsTer8) c.2219del (p.Glu740GlyfsTer8) c.2156del (p.Glu719GlyfsTer8) | |
11 | g.47338591T>A | CA380320299 | MYBPC3 | c.2237A>T (p.Glu746Val) c.2219A>T (p.Glu740Val) c.2156A>T (p.Glu719Val) | |
11 | g.47338591T>C | CA380320302 | MYBPC3 | c.2237A>G (p.Glu746Gly) c.2219A>G (p.Glu740Gly) c.2156A>G (p.Glu719Gly) | |
11 | g.47338591T>G | CA380320300 | MYBPC3 | c.2237A>C (p.Glu746Ala) c.2219A>C (p.Glu740Ala) c.2156A>C (p.Glu719Ala) | |
11 | g.47338592C>A | CA380320304 | MYBPC3 | c.2236G>T (p.Glu746Ter) c.2218G>T (p.Glu740Ter) c.2155G>T (p.Glu719Ter) | ClinVar |
11 | g.47338592C>G | CA380320306 | MYBPC3 | c.2236G>C (p.Glu746Gln) c.2218G>C (p.Glu740Gln) c.2155G>C (p.Glu719Gln) | |
11 | g.47338592C>T | CA380320308 | MYBPC3 | c.2236G>A (p.Glu746Lys) c.2218G>A (p.Glu740Lys) c.2155G>A (p.Glu719Lys) | |
11 | g.47338593A>C | CA380320310 | MYBPC3 | c.2235T>G (p.Asp745Glu) c.2217T>G (p.Asp739Glu) c.2154T>G (p.Asp718Glu) | |
11 | g.47338593A>G | CA474217010 | MYBPC3 | c.2235T>C (p.Asp745=) c.2217T>C (p.Asp739=) c.2154T>C (p.Asp718=) | COSMIC COSMIC |
11 | g.47338593A>T | CA380320312 | MYBPC3 | c.2235T>A (p.Asp745Glu) c.2217T>A (p.Asp739Glu) c.2154T>A (p.Asp718Glu) | |
11 | g.47338594T>A | CA380320314 | MYBPC3 | c.2234A>T (p.Asp745Val) c.2216A>T (p.Asp739Val) c.2153A>T (p.Asp718Val) | |
11 | g.47338594T>C | CA011923 | MYBPC3 | c.2234A>G (p.Asp745Gly) c.2216A>G (p.Asp739Gly) c.2153A>G (p.Asp718Gly) | ClinVar dbSNP |
11 | g.47338594T>G | CA380320316 | MYBPC3 | c.2234A>C (p.Asp745Ala) c.2216A>C (p.Asp739Ala) c.2153A>C (p.Asp718Ala) | |
11 | g.47338594T= | CA1969332364 | MYBPC3 | c.2234A= (p.Asp745=) c.2216A= (p.Asp739=) c.2153A= (p.Asp718=) | |
11 | g.47338595del | CA2573332850 | MYBPC3 | c.2233del (p.Asp745MetfsTer9) c.2215del (p.Asp739MetfsTer9) c.2152del (p.Asp718MetfsTer9) | |
11 | g.47338595C>A | CA380320318 | MYBPC3 | c.2233G>T (p.Asp745Tyr) c.2215G>T (p.Asp739Tyr) c.2152G>T (p.Asp718Tyr) | |
11 | g.47338595C>G | CA380320320 | MYBPC3 | c.2233G>C (p.Asp745His) c.2215G>C (p.Asp739His) c.2152G>C (p.Asp718His) | |
11 | g.47338595C>T | CA380320321 | MYBPC3 | c.2233G>A (p.Asp745Asn) c.2215G>A (p.Asp739Asn) c.2152G>A (p.Asp718Asn) | |
11 | g.47338599_47338602del | CA2580615675 | MYBPC3 | c.2230_2233del (p.Glu744MetfsTer9) c.2212_2215del (p.Glu738MetfsTer9) c.2149_2152del (p.Glu717MetfsTer9) | ClinVar |
11 | g.47338596T>A | CA380320323 | MYBPC3 | c.2232A>T (p.Glu744Asp) c.2214A>T (p.Glu738Asp) c.2151A>T (p.Glu717Asp) | |
11 | g.47338596T>C | CA474217011 | MYBPC3 | c.2232A>G (p.Glu744=) c.2214A>G (p.Glu738=) c.2151A>G (p.Glu717=) | |
11 | g.47338596T>G | CA380320326 | MYBPC3 | c.2232A>C (p.Glu744Asp) c.2214A>C (p.Glu738Asp) c.2151A>C (p.Glu717Asp) | |
11 | g.47338597T>A | CA380320331 | MYBPC3 | c.2231A>T (p.Glu744Val) c.2213A>T (p.Glu738Val) c.2150A>T (p.Glu717Val) | |
11 | g.47338597T>C | CA380320328 | MYBPC3 | c.2231A>G (p.Glu744Gly) c.2213A>G (p.Glu738Gly) c.2150A>G (p.Glu717Gly) | ClinVar dbSNP |
11 | g.47338597T>G | CA380320330 | MYBPC3 | c.2231A>C (p.Glu744Ala) c.2213A>C (p.Glu738Ala) c.2150A>C (p.Glu717Ala) | |
11 | g.47338598C>A | CA380320332 | MYBPC3 | c.2230G>T (p.Glu744Ter) c.2212G>T (p.Glu738Ter) c.2149G>T (p.Glu717Ter) | |
11 | g.47338598C>G | CA380320334 | MYBPC3 | c.2230G>C (p.Glu744Gln) c.2212G>C (p.Glu738Gln) c.2149G>C (p.Glu717Gln) | |
11 | g.47338598C>T | CA380320336 | MYBPC3 | c.2230G>A (p.Glu744Lys) c.2212G>A (p.Glu738Lys) c.2149G>A (p.Glu717Lys) | COSMIC COSMIC |
11 | g.47338599del | CA2695212768 | MYBPC3 | c.2230del (p.Glu744LysfsTer10) c.2212del (p.Glu738LysfsTer10) c.2149del (p.Glu717LysfsTer10) | |
11 | g.47338599C>A | CA380320338 | MYBPC3 | c.2229G>T (p.Lys743Asn) c.2211G>T (p.Lys737Asn) c.2148G>T (p.Lys716Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338599C= | CA1969332369 | MYBPC3 | c.2229G= (p.Lys743=) c.2211G= (p.Lys737=) c.2148G= (p.Lys716=) | |
11 | g.47338599C>G | CA380320340 | MYBPC3 | c.2229G>C (p.Lys743Asn) c.2211G>C (p.Lys737Asn) c.2148G>C (p.Lys716Asn) | |
11 | g.47338599C>T | CA474217013 | MYBPC3 | c.2229G>A (p.Lys743=) c.2211G>A (p.Lys737=) c.2148G>A (p.Lys716=) | |
11 | g.47338600T>A | CA380320342 | MYBPC3 | c.2228A>T (p.Lys743Met) c.2210A>T (p.Lys737Met) c.2147A>T (p.Lys716Met) | |
11 | g.47338600T>C | CA380320347 | MYBPC3 | c.2228A>G (p.Lys743Arg) c.2210A>G (p.Lys737Arg) c.2147A>G (p.Lys716Arg) | |
11 | g.47338600T>G | CA380320349 | MYBPC3 | c.2228A>C (p.Lys743Thr) c.2210A>C (p.Lys737Thr) c.2147A>C (p.Lys716Thr) | |
11 | g.47338601T>A | CA380320352 | MYBPC3 | c.2227A>T (p.Lys743Ter) c.2209A>T (p.Lys737Ter) c.2146A>T (p.Lys716Ter) | |
11 | g.47338601T>C | CA380320354 | MYBPC3 | c.2227A>G (p.Lys743Glu) c.2209A>G (p.Lys737Glu) c.2146A>G (p.Lys716Glu) | |
11 | g.47338601T>G | CA380320356 | MYBPC3 | c.2227A>C (p.Lys743Gln) c.2209A>C (p.Lys737Gln) c.2146A>C (p.Lys716Gln) | |
11 | g.47338602C>A | CA380320358 | MYBPC3 | c.2226G>T (p.Glu742Asp) c.2208G>T (p.Glu736Asp) c.2145G>T (p.Glu715Asp) | |
11 | g.47338602C>G | CA380320360 | MYBPC3 | c.2226G>C (p.Glu742Asp) c.2208G>C (p.Glu736Asp) c.2145G>C (p.Glu715Asp) | |
11 | g.47338602C>T | CA474217016 | MYBPC3 | c.2226G>A (p.Glu742=) c.2208G>A (p.Glu736=) c.2145G>A (p.Glu715=) | |
11 | g.47338603T>A | CA380320364 | MYBPC3 | c.2225A>T (p.Glu742Val) c.2207A>T (p.Glu736Val) c.2144A>T (p.Glu715Val) | |
11 | g.47338603T>C | CA380320365 | MYBPC3 | c.2225A>G (p.Glu742Gly) c.2207A>G (p.Glu736Gly) c.2144A>G (p.Glu715Gly) | |
11 | g.47338603T>G | CA380320362 | MYBPC3 | c.2225A>C (p.Glu742Ala) c.2207A>C (p.Glu736Ala) c.2144A>C (p.Glu715Ala) | |
11 | g.47338604C>A | CA380320370 | MYBPC3 | c.2224G>T (p.Glu742Ter) c.2206G>T (p.Glu736Ter) c.2143G>T (p.Glu715Ter) | |
11 | g.47338604C= | CA1969332371 | MYBPC3 | c.2224G= (p.Glu742=) c.2206G= (p.Glu736=) c.2143G= (p.Glu715=) | |
11 | g.47338604C>G | CA380320369 | MYBPC3 | c.2224G>C (p.Glu742Gln) c.2206G>C (p.Glu736Gln) c.2143G>C (p.Glu715Gln) | gnomAD v4 |
11 | g.47338604C>T | CA380320371 | MYBPC3 | c.2224G>A (p.Glu742Lys) c.2206G>A (p.Glu736Lys) c.2143G>A (p.Glu715Lys) | dbSNP |
11 | g.47338604_47338605insGG | CA2791323022 | MYBPC3 | c.2223_2224insCC (p.Glu742ProfsTer13) c.2205_2206insCC (p.Glu736ProfsTer13) c.2142_2143insCC (p.Glu715ProfsTer13) | |
11 | g.47338605T>A | CA474217021 | MYBPC3 | c.2223A>T (p.Ala741=) c.2205A>T (p.Ala735=) c.2142A>T (p.Ala714=) | |
11 | g.47338605T>C | CA474217019 | MYBPC3 | c.2223A>G (p.Ala741=) c.2205A>G (p.Ala735=) c.2142A>G (p.Ala714=) | dbSNP |
11 | g.47338605T>G | CA474217020 | MYBPC3 | c.2223A>C (p.Ala741=) c.2205A>C (p.Ala735=) c.2142A>C (p.Ala714=) | |
11 | g.47338605T= | CA1969332375 | MYBPC3 | c.2223A= (p.Ala741=) c.2205A= (p.Ala735=) c.2142A= (p.Ala714=) | |
11 | g.47338608_47338627del | CA2695212769 | MYBPC3 | c.2204_2223del (p.Ile735ArgfsTer5) c.2186_2205del (p.Ile729ArgfsTer5) c.2123_2142del (p.Ile708ArgfsTer5) | |
11 | g.47338606G>A | CA380320374 | MYBPC3 | c.2222C>T (p.Ala741Val) c.2204C>T (p.Ala735Val) c.2141C>T (p.Ala714Val) | |
11 | g.47338606G>C | CA380320377 | MYBPC3 | c.2222C>G (p.Ala741Gly) c.2204C>G (p.Ala735Gly) c.2141C>G (p.Ala714Gly) | |
11 | g.47338606G>T | CA380320375 | MYBPC3 | c.2222C>A (p.Ala741Glu) c.2204C>A (p.Ala735Glu) c.2141C>A (p.Ala714Glu) | |
11 | g.47338606_47338607delinsGC | CA1969332377 | MYBPC3 | c.2221_2222delinsGC (p.Ala741=) c.2203_2204delinsGC (p.Ala735=) c.2140_2141delinsGC (p.Ala714=) | |
11 | g.47338607C>A | CA380320380 | MYBPC3 | c.2221G>T (p.Ala741Ser) c.2203G>T (p.Ala735Ser) c.2140G>T (p.Ala714Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47338607C= | CA1969332382 | MYBPC3 | c.2221G= (p.Ala741=) c.2203G= (p.Ala735=) c.2140G= (p.Ala714=) | |
11 | g.47338607C>G | CA380320381 | MYBPC3 | c.2221G>C (p.Ala741Pro) c.2203G>C (p.Ala735Pro) c.2140G>C (p.Ala714Pro) | |
11 | g.47338607C>T | CA380320383 | MYBPC3 | c.2221G>A (p.Ala741Thr) c.2203G>A (p.Ala735Thr) c.2140G>A (p.Ala714Thr) | |
11 | g.47338611dup | CA2573147064 | MYBPC3 | c.2221dup (p.Ala741GlyfsTer6) c.2203dup (p.Ala735GlyfsTer6) c.2140dup (p.Ala714GlyfsTer6) | ClinVar dbSNP |
11 | g.47338611del | CA011913 | MYBPC3 | c.2221del (p.Ala741GlnfsTer13) c.2203del (p.Ala735GlnfsTer13) c.2140del (p.Ala714GlnfsTer13) | ClinVar dbSNP |
11 | g.47338608_47338611del | CA2791323024 | MYBPC3 | c.2218_2221del (p.Gly740GlnfsTer13) c.2200_2203del (p.Gly734GlnfsTer13) c.2137_2140del (p.Gly713GlnfsTer13) | |
11 | g.47338608C>A | CA474217026 | MYBPC3 | c.2220G>T (p.Gly740=) c.2202G>T (p.Gly734=) c.2139G>T (p.Gly713=) | |
11 | g.47338608C= | CA1969332385 | MYBPC3 | c.2220G= (p.Gly740=) c.2202G= (p.Gly734=) c.2139G= (p.Gly713=) | |
11 | g.47338608C>G | CA474217027 | MYBPC3 | c.2220G>C (p.Gly740=) c.2202G>C (p.Gly734=) c.2139G>C (p.Gly713=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47338608C>T | CA474217028 | MYBPC3 | c.2220G>A (p.Gly740=) c.2202G>A (p.Gly734=) c.2139G>A (p.Gly713=) | |
11 | g.47338609C>A | CA380320386 | MYBPC3 | c.2219G>T (p.Gly740Val) c.2201G>T (p.Gly734Val) c.2138G>T (p.Gly713Val) | |
11 | g.47338609C= | CA1969332388 | MYBPC3 | c.2219G= (p.Gly740=) c.2201G= (p.Gly734=) c.2138G= (p.Gly713=) | |
11 | g.47338609C>G | CA380320388 | MYBPC3 | c.2219G>C (p.Gly740Ala) c.2201G>C (p.Gly734Ala) c.2138G>C (p.Gly713Ala) | dbSNP gnomAD v4 |
11 | g.47338609C>T | CA380320390 | MYBPC3 | c.2219G>A (p.Gly740Glu) c.2201G>A (p.Gly734Glu) c.2138G>A (p.Gly713Glu) | |
11 | g.47338610C>A | CA380320392 | MYBPC3 | c.2218G>T (p.Gly740Trp) c.2200G>T (p.Gly734Trp) c.2137G>T (p.Gly713Trp) | gnomAD v4 |
11 | g.47338610C>G | CA380320393 | MYBPC3 | c.2218G>C (p.Gly740Arg) c.2200G>C (p.Gly734Arg) c.2137G>C (p.Gly713Arg) | |
11 | g.47338610C>T | CA380320395 | MYBPC3 | c.2218G>A (p.Gly740Arg) c.2200G>A (p.Gly734Arg) c.2137G>A (p.Gly713Arg) | |
11 | g.47338611C>A | CA011909 | MYBPC3 | c.2217G>T (p.Glu739Asp) c.2199G>T (p.Glu733Asp) c.2136G>T (p.Glu712Asp) | ClinVar dbSNP |
11 | g.47338611C= | CA1969332393 | MYBPC3 | c.2217G= (p.Glu739=) c.2199G= (p.Glu733=) c.2136G= (p.Glu712=) | |
11 | g.47338611C>G | CA380320398 | MYBPC3 | c.2217G>C (p.Glu739Asp) c.2199G>C (p.Glu733Asp) c.2136G>C (p.Glu712Asp) | |
11 | g.47338611C>T | CA16613616 | MYBPC3 | c.2217G>A (p.Glu739=) c.2199G>A (p.Glu733=) c.2136G>A (p.Glu712=) | ClinVar dbSNP |
11 | g.47338612T>A | CA380320403 | MYBPC3 | c.2216A>T (p.Glu739Val) c.2198A>T (p.Glu733Val) c.2135A>T (p.Glu712Val) | |
11 | g.47338612T>C | CA380320401 | MYBPC3 | c.2216A>G (p.Glu739Gly) c.2198A>G (p.Glu733Gly) c.2135A>G (p.Glu712Gly) | |
11 | g.47338612T>G | CA380320402 | MYBPC3 | c.2216A>C (p.Glu739Ala) c.2198A>C (p.Glu733Ala) c.2135A>C (p.Glu712Ala) | |
11 | g.47338613C>A | CA380320406 | MYBPC3 | c.2215G>T (p.Glu739Ter) c.2197G>T (p.Glu733Ter) c.2134G>T (p.Glu712Ter) | |
11 | g.47338613C= | CA1969332403 | MYBPC3 | c.2215G= (p.Glu739=) c.2197G= (p.Glu733=) c.2134G= (p.Glu712=) | |
11 | g.47338613C>G | CA380320407 | MYBPC3 | c.2215G>C (p.Glu739Gln) c.2197G>C (p.Glu733Gln) c.2134G>C (p.Glu712Gln) | gnomAD v4 |
11 | g.47338613C>T | CA380320408 | MYBPC3 | c.2215G>A (p.Glu739Lys) c.2197G>A (p.Glu733Lys) c.2134G>A (p.Glu712Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
11 | g.47338614G>A | CA078593 | MYBPC3 | c.2214C>T (p.Val738=) c.2196C>T (p.Val732=) c.2133C>T (p.Val711=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338614G>C | CA474217030 | MYBPC3 | c.2214C>G (p.Val738=) c.2196C>G (p.Val732=) c.2133C>G (p.Val711=) | |
11 | g.47338614G= | CA1969332405 | MYBPC3 | c.2214C= (p.Val738=) c.2196C= (p.Val732=) c.2133C= (p.Val711=) | |
11 | g.47338614G>T | CA474217031 | MYBPC3 | c.2214C>A (p.Val738=) c.2196C>A (p.Val732=) c.2133C>A (p.Val711=) | gnomAD v4 |
11 | g.47338615del | CA2791323029 | MYBPC3 | c.2213del (p.Val738AlafsTer16) c.2195del (p.Val732AlafsTer16) c.2132del (p.Val711AlafsTer16) | |
11 | g.47338615A>C | CA380320410 | MYBPC3 | c.2213T>G (p.Val738Gly) c.2195T>G (p.Val732Gly) c.2132T>G (p.Val711Gly) | |
11 | g.47338615A>G | CA380320412 | MYBPC3 | c.2213T>C (p.Val738Ala) c.2195T>C (p.Val732Ala) c.2132T>C (p.Val711Ala) | gnomAD v4 |
11 | g.47338615A>T | CA380320414 | MYBPC3 | c.2213T>A (p.Val738Asp) c.2195T>A (p.Val732Asp) c.2132T>A (p.Val711Asp) | |
11 | g.47338616C>A | CA380320417 | MYBPC3 | c.2212G>T (p.Val738Phe) c.2194G>T (p.Val732Phe) c.2131G>T (p.Val711Phe) | |
11 | g.47338616C>G | CA380320418 | MYBPC3 | c.2212G>C (p.Val738Leu) c.2194G>C (p.Val732Leu) c.2131G>C (p.Val711Leu) | |
11 | g.47338616C>T | CA380320419 | MYBPC3 | c.2212G>A (p.Val738Ile) c.2194G>A (p.Val732Ile) c.2131G>A (p.Val711Ile) | |
11 | g.47338617C>A | CA474217035 | MYBPC3 | c.2211G>T (p.Thr737=) c.2193G>T (p.Thr731=) c.2130G>T (p.Thr710=) | ClinVar dbSNP |
11 | g.47338617C= | CA1969332409 | MYBPC3 | c.2211G= (p.Thr737=) c.2193G= (p.Thr731=) c.2130G= (p.Thr710=) | |
11 | g.47338617C>G | CA474217036 | MYBPC3 | c.2211G>C (p.Thr737=) c.2193G>C (p.Thr731=) c.2130G>C (p.Thr710=) | |
11 | g.47338617C>T | CA078590 | MYBPC3 | c.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 |
11 | g.47338618G>A | CA011903 | MYBPC3 | c.2210C>T (p.Thr737Met) c.2192C>T (p.Thr731Met) c.2129C>T (p.Thr710Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338618G>C | CA380320423 | MYBPC3 | c.2210C>G (p.Thr737Arg) c.2192C>G (p.Thr731Arg) c.2129C>G (p.Thr710Arg) | COSMIC COSMIC |
11 | g.47338618G= | CA1969332414 | MYBPC3 | c.2210C= (p.Thr737=) c.2192C= (p.Thr731=) c.2129C= (p.Thr710=) | |
11 | g.47338618G>T | CA380320421 | MYBPC3 | c.2210C>A (p.Thr737Lys) c.2192C>A (p.Thr731Lys) c.2129C>A (p.Thr710Lys) | dbSNP |
11 | g.47338619T>A | CA380320427 | MYBPC3 | c.2209A>T (p.Thr737Ser) c.2191A>T (p.Thr731Ser) c.2128A>T (p.Thr710Ser) | |
11 | g.47338619T>C | CA221689945 | MYBPC3 | c.2209A>G (p.Thr737Ala) c.2191A>G (p.Thr731Ala) c.2128A>G (p.Thr710Ala) | dbSNP gnomAD v4 |
11 | g.47338619T>G | CA380320426 | MYBPC3 | c.2209A>C (p.Thr737Pro) c.2191A>C (p.Thr731Pro) c.2128A>C (p.Thr710Pro) | |
11 | g.47338619T= | CA1969332417 | MYBPC3 | c.2209A= (p.Thr737=) c.2191A= (p.Thr731=) c.2128A= (p.Thr710=) | |
11 | g.47338619_47338620insATCATTAAAAAAAAAAGA | CA2791323033 | MYBPC3 | c.2208_2209insTCTTTTTTTTTTAATGAT (p.Phe736_Thr737insSerPhePhePheAsnAsp) c.2190_2191insTCTTTTTTTTTTAATGAT (p.Phe730_Thr731insSerPhePhePheAsnAsp) c.2127_2128insTCTTTTTTTTTTAATGAT (p.Phe709_Thr710insSerPhePhePheAsnAsp) | |
11 | g.47338620G>A | CA474217038 | MYBPC3 | c.2208C>T (p.Phe736=) c.2190C>T (p.Phe730=) c.2127C>T (p.Phe709=) | gnomAD v4 |
11 | g.47338620G>C | CA380320430 | MYBPC3 | c.2208C>G (p.Phe736Leu) c.2190C>G (p.Phe730Leu) c.2127C>G (p.Phe709Leu) | |
11 | g.47338620G= | CA1969332420 | MYBPC3 | c.2208C= (p.Phe736=) c.2190C= (p.Phe730=) c.2127C= (p.Phe709=) | |
11 | g.47338620G>T | CA380320432 | MYBPC3 | c.2208C>A (p.Phe736Leu) c.2190C>A (p.Phe730Leu) c.2127C>A (p.Phe709Leu) | ClinVar dbSNP gnomAD v4 |
11 | g.47338621A>C | CA380320433 | MYBPC3 | c.2207T>G (p.Phe736Cys) c.2189T>G (p.Phe730Cys) c.2126T>G (p.Phe709Cys) | gnomAD v4 |
11 | g.47338621A>G | CA380320435 | MYBPC3 | c.2207T>C (p.Phe736Ser) c.2189T>C (p.Phe730Ser) c.2126T>C (p.Phe709Ser) | |
11 | g.47338621A>T | CA380320437 | MYBPC3 | c.2207T>A (p.Phe736Tyr) c.2189T>A (p.Phe730Tyr) c.2126T>A (p.Phe709Tyr) | |
11 | g.47338622A>C | CA380320439 | MYBPC3 | c.2206T>G (p.Phe736Val) c.2188T>G (p.Phe730Val) c.2125T>G (p.Phe709Val) | |
11 | g.47338622A>G | CA380320442 | MYBPC3 | c.2206T>C (p.Phe736Leu) c.2188T>C (p.Phe730Leu) c.2125T>C (p.Phe709Leu) | |
11 | g.47338622A>T | CA380320440 | MYBPC3 | c.2206T>A (p.Phe736Ile) c.2188T>A (p.Phe730Ile) c.2125T>A (p.Phe709Ile) | |
11 | g.47338623G>A | CA474217039 | MYBPC3 | c.2205C>T (p.Ile735=) c.2187C>T (p.Ile729=) c.2124C>T (p.Ile708=) | ClinVar |
11 | g.47338623G>C | CA380320444 | MYBPC3 | c.2205C>G (p.Ile735Met) c.2187C>G (p.Ile729Met) c.2124C>G (p.Ile708Met) | |
11 | g.47338623G>T | CA474217040 | MYBPC3 | c.2205C>A (p.Ile735=) c.2187C>A (p.Ile729=) c.2124C>A (p.Ile708=) | |
11 | g.47338624A>C | CA380320446 | MYBPC3 | c.2204T>G (p.Ile735Ser) c.2186T>G (p.Ile729Ser) c.2123T>G (p.Ile708Ser) | |
11 | g.47338624A>G | CA380320448 | MYBPC3 | c.2204T>C (p.Ile735Thr) c.2186T>C (p.Ile729Thr) c.2123T>C (p.Ile708Thr) | |
11 | g.47338624A>T | CA380320450 | MYBPC3 | c.2204T>A (p.Ile735Asn) c.2186T>A (p.Ile729Asn) c.2123T>A (p.Ile708Asn) | |
11 | g.47338625T>A | CA380320453 | MYBPC3 | c.2203A>T (p.Ile735Phe) c.2185A>T (p.Ile729Phe) c.2122A>T (p.Ile708Phe) | |
11 | g.47338625T>C | CA380320456 | MYBPC3 | c.2203A>G (p.Ile735Val) c.2185A>G (p.Ile729Val) c.2122A>G (p.Ile708Val) | dbSNP |
11 | g.47338625T>G | CA380320455 | MYBPC3 | c.2203A>C (p.Ile735Leu) c.2185A>C (p.Ile729Leu) c.2122A>C (p.Ile708Leu) | |
11 | g.47338625T= | CA1969332422 | MYBPC3 | c.2203A= (p.Ile735=) c.2185A= (p.Ile729=) c.2122A= (p.Ile708=) | |
11 | g.47338626G>A | CA078587 | MYBPC3 | c.2202C>T (p.Ser734=) c.2184C>T (p.Ser728=) c.2121C>T (p.Ser707=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47338626G>C | CA380320460 | MYBPC3 | c.2202C>G (p.Ser734Arg) c.2184C>G (p.Ser728Arg) c.2121C>G (p.Ser707Arg) | |
11 | g.47338626G= | CA1969332424 | MYBPC3 | c.2202C= (p.Ser734=) c.2184C= (p.Ser728=) c.2121C= (p.Ser707=) | |
11 | g.47338626G>T | CA380320462 | MYBPC3 | c.2202C>A (p.Ser734Arg) c.2184C>A (p.Ser728Arg) c.2121C>A (p.Ser707Arg) | |
11 | g.47338627C>A | CA380320465 | MYBPC3 | c.2201G>T (p.Ser734Ile) c.2183G>T (p.Ser728Ile) c.2120G>T (p.Ser707Ile) | |
11 | g.47338627C>G | CA380320467 | MYBPC3 | c.2201G>C (p.Ser734Thr) c.2183G>C (p.Ser728Thr) c.2120G>C (p.Ser707Thr) | |
11 | g.47338627C>T | CA380320469 | MYBPC3 | c.2201G>A (p.Ser734Asn) c.2183G>A (p.Ser728Asn) c.2120G>A (p.Ser707Asn) | ClinVar dbSNP |
11 | g.47338628T>A | CA380320471 | MYBPC3 | c.2200A>T (p.Ser734Cys) c.2182A>T (p.Ser728Cys) c.2119A>T (p.Ser707Cys) | |
11 | g.47338628T>C | CA011895 | MYBPC3 | c.2200A>G (p.Ser734Gly) c.2182A>G (p.Ser728Gly) c.2119A>G (p.Ser707Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47338628T>G | CA380320474 | MYBPC3 | c.2200A>C (p.Ser734Arg) c.2182A>C (p.Ser728Arg) c.2119A>C (p.Ser707Arg) | |
11 | g.47338628T= | CA1969332427 | MYBPC3 | c.2200A= (p.Ser734=) c.2182A= (p.Ser728=) c.2119A= (p.Ser707=) | |
11 | g.47338629G>A | CA048805 | MYBPC3 | c.2199C>T (p.Arg733=) c.2181C>T (p.Arg727=) c.2118C>T (p.Arg706=) | |
11 | g.47338629G>C | CA474217042 | MYBPC3 | c.2199C>G (p.Arg733=) c.2181C>G (p.Arg727=) c.2118C>G (p.Arg706=) | |
11 | g.47338629G= | CA1969332429 | MYBPC3 | c.2199C= (p.Arg733=) c.2181C= (p.Arg727=) c.2118C= (p.Arg706=) | |
11 | g.47338629G>T | CA474217043 | MYBPC3 | c.2199C>A (p.Arg733=) c.2181C>A (p.Arg727=) c.2118C>A (p.Arg706=) | dbSNP |
11 | g.47338630C>A | CA078583 | MYBPC3 | c.2198G>T (p.Arg733Leu) c.2180G>T (p.Arg727Leu) c.2117G>T (p.Arg706Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47338630C= | CA1969332436 | MYBPC3 | c.2198G= (p.Arg733=) c.2180G= (p.Arg727=) c.2117G= (p.Arg706=) | |
11 | g.47338630C>G | CA380320477 | MYBPC3 | c.2198G>C (p.Arg733Pro) c.2180G>C (p.Arg727Pro) c.2117G>C (p.Arg706Pro) | |
11 | g.47338630C>T | CA011887 | MYBPC3 | c.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 |
11 | g.47338631G>A | CA011877 | MYBPC3 | c.2197C>T (p.Arg733Cys) c.2179C>T (p.Arg727Cys) c.2116C>T (p.Arg706Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338631G>C | CA380320481 | MYBPC3 | c.2197C>G (p.Arg733Gly) c.2179C>G (p.Arg727Gly) c.2116C>G (p.Arg706Gly) | |
11 | g.47338631G= | CA1969332448 | MYBPC3 | c.2197C= (p.Arg733=) c.2179C= (p.Arg727=) c.2116C= (p.Arg706=) | |
11 | g.47338631G>T | CA011872 | MYBPC3 | c.2197C>A (p.Arg733Ser) c.2179C>A (p.Arg727Ser) c.2116C>A (p.Arg706Ser) | ClinVar dbSNP |
11 | g.47338632G>A | CA011863 | MYBPC3 | c.2196C>T (p.Asp732=) c.2178C>T (p.Asp726=) c.2115C>T (p.Asp705=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338632G>C | CA380320487 | MYBPC3 | c.2196C>G (p.Asp732Glu) c.2178C>G (p.Asp726Glu) c.2115C>G (p.Asp705Glu) | |
11 | g.47338632G= | CA1969332456 | MYBPC3 | c.2196C= (p.Asp732=) c.2178C= (p.Asp726=) c.2115C= (p.Asp705=) | |
11 | g.47338632G>T | CA380320484 | MYBPC3 | c.2196C>A (p.Asp732Glu) c.2178C>A (p.Asp726Glu) c.2115C>A (p.Asp705Glu) | |
11 | g.47338633del | CA2580084170 | MYBPC3 | c.2195del (p.Asp732AlafsTer22) c.2177del (p.Asp726AlafsTer22) c.2114del (p.Asp705AlafsTer22) | ClinVar |
11 | g.47338633T>A | CA380320489 | MYBPC3 | c.2195A>T (p.Asp732Val) c.2177A>T (p.Asp726Val) c.2114A>T (p.Asp705Val) | |
11 | g.47338633T>C | CA380320490 | MYBPC3 | c.2195A>G (p.Asp732Gly) c.2177A>G (p.Asp726Gly) c.2114A>G (p.Asp705Gly) | |
11 | g.47338633T>G | CA380320492 | MYBPC3 | c.2195A>C (p.Asp732Ala) c.2177A>C (p.Asp726Ala) c.2114A>C (p.Asp705Ala) | |
11 | g.47338634C>A | CA048738 | MYBPC3 | c.2194G>T (p.Asp732Tyr) c.2176G>T (p.Asp726Tyr) c.2113G>T (p.Asp705Tyr) | dbSNP ExAC |
11 | g.47338634C= | CA1969332460 | MYBPC3 | c.2194G= (p.Asp732=) c.2176G= (p.Asp726=) c.2113G= (p.Asp705=) | |
11 | g.47338634C>G | CA380320495 | MYBPC3 | c.2194G>C (p.Asp732His) c.2176G>C (p.Asp726His) c.2113G>C (p.Asp705His) | |
11 | g.47338634C>T | CA380320497 | MYBPC3 | c.2194G>A (p.Asp732Asn) c.2176G>A (p.Asp726Asn) c.2113G>A (p.Asp705Asn) | |
11 | g.47338635C>A | CA380320499 | MYBPC3 | c.2193G>T (p.Lys731Asn) c.2175G>T (p.Lys725Asn) c.2112G>T (p.Lys704Asn) | ClinVar |
11 | g.47338635C= | CA1969332464 | MYBPC3 | c.2193G= (p.Lys731=) c.2175G= (p.Lys725=) c.2112G= (p.Lys704=) | |
11 | g.47338635C>G | CA380320501 | MYBPC3 | c.2193G>C (p.Lys731Asn) c.2175G>C (p.Lys725Asn) c.2112G>C (p.Lys704Asn) | dbSNP gnomAD v2 |
11 | g.47338635C>T | CA474217050 | MYBPC3 | c.2193G>A (p.Lys731=) c.2175G>A (p.Lys725=) c.2112G>A (p.Lys704=) | dbSNP |
11 | g.47338636T>A | CA380320503 | MYBPC3 | c.2192A>T (p.Lys731Met) c.2174A>T (p.Lys725Met) c.2111A>T (p.Lys704Met) | |
11 | g.47338636T>C | CA380320505 | MYBPC3 | c.2192A>G (p.Lys731Arg) c.2174A>G (p.Lys725Arg) c.2111A>G (p.Lys704Arg) | |
11 | g.47338636T>G | CA380320506 | MYBPC3 | c.2192A>C (p.Lys731Thr) c.2174A>C (p.Lys725Thr) c.2111A>C (p.Lys704Thr) | |
11 | g.47338637T>A | CA380320512 | MYBPC3 | c.2191A>T (p.Lys731Ter) c.2173A>T (p.Lys725Ter) c.2110A>T (p.Lys704Ter) | |
11 | g.47338637T>C | CA380320510 | MYBPC3 | c.2191A>G (p.Lys731Glu) c.2173A>G (p.Lys725Glu) c.2110A>G (p.Lys704Glu) | |
11 | g.47338637T>G | CA380320508 | MYBPC3 | c.2191A>C (p.Lys731Gln) c.2173A>C (p.Lys725Gln) c.2110A>C (p.Lys704Gln) | |
11 | g.47338637_47338638delinsTG | CA1969332467 | MYBPC3 | c.2190_2191delinsCA (p.Thr730=) c.2172_2173delinsCA (p.Thr724=) c.2109_2110delinsCA (p.Thr703=) | |
11 | g.47338641_47338643del | CA2580615676 | MYBPC3 | c.2189_2191del (p.Thr730del) c.2171_2173del (p.Thr724del) c.2108_2110del (p.Thr703del) | ClinVar |
11 | g.47338638G>A | CA474217052 | MYBPC3 | c.2190C>T (p.Thr730=) c.2172C>T (p.Thr724=) c.2109C>T (p.Thr703=) | |
11 | g.47338638G>C | CA474217053 | MYBPC3 | c.2190C>G (p.Thr730=) c.2172C>G (p.Thr724=) c.2109C>G (p.Thr703=) | |
11 | g.47338638G= | CA1969332476 | MYBPC3 | c.2190C= (p.Thr730=) c.2172C= (p.Thr724=) c.2109C= (p.Thr703=) | |
11 | g.47338638G>T | CA10582917 | MYBPC3 | c.2190C>A (p.Thr730=) c.2172C>A (p.Thr724=) c.2109C>A (p.Thr703=) | ClinVar dbSNP gnomAD v4 |
11 | g.47338639del | CA658797628 | MYBPC3 | c.2190del (p.Lys731ArgfsTer23) c.2172del (p.Lys725ArgfsTer23) c.2109del (p.Lys704ArgfsTer23) | ClinVar dbSNP |
11 | g.47338639G>A | CA011857 | MYBPC3 | c.2189C>T (p.Thr730Ile) c.2171C>T (p.Thr724Ile) c.2108C>T (p.Thr703Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47338639G>C | CA380320518 | MYBPC3 | c.2189C>G (p.Thr730Ser) c.2171C>G (p.Thr724Ser) c.2108C>G (p.Thr703Ser) | gnomAD v4 |
11 | g.47338639G= | CA1969332484 | MYBPC3 | c.2189C= (p.Thr730=) c.2171C= (p.Thr724=) c.2108C= (p.Thr703=) | |
11 | g.47338639G>T | CA380320520 | MYBPC3 | c.2189C>A (p.Thr730Asn) c.2171C>A (p.Thr724Asn) c.2108C>A (p.Thr703Asn) | |
11 | g.47338640del | CA2613393749 | MYBPC3 | c.2188del (p.Thr730ProfsTer24) c.2170del (p.Thr724ProfsTer24) c.2107del (p.Thr703ProfsTer24) | gnomAD v4 |
11 | g.47338640T>A | CA380320523 | MYBPC3 | c.2188A>T (p.Thr730Ser) c.2170A>T (p.Thr724Ser) c.2107A>T (p.Thr703Ser) | |
11 | g.47338640T>C | CA380320524 | MYBPC3 | c.2188A>G (p.Thr730Ala) c.2170A>G (p.Thr724Ala) c.2107A>G (p.Thr703Ala) | |
11 | g.47338640T>G | CA078576 | MYBPC3 | c.2188A>C (p.Thr730Pro) c.2170A>C (p.Thr724Pro) c.2107A>C (p.Thr703Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47338640T= | CA1969332486 | MYBPC3 | c.2188A= (p.Thr730=) c.2170A= (p.Thr724=) c.2107A= (p.Thr703=) | |
11 | g.47338641G>A | CA078574 | MYBPC3 | c.2187C>T (p.Thr729=) c.2169C>T (p.Thr723=) c.2106C>T (p.Thr702=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338641G>C | CA474217056 | MYBPC3 | c.2187C>G (p.Thr729=) c.2169C>G (p.Thr723=) c.2106C>G (p.Thr702=) | |
11 | g.47338641G= | CA1969332487 | MYBPC3 | c.2187C= (p.Thr729=) c.2169C= (p.Thr723=) c.2106C= (p.Thr702=) | |
11 | g.47338641G>T | CA474217055 | MYBPC3 | c.2187C>A (p.Thr729=) c.2169C>A (p.Thr723=) c.2106C>A (p.Thr702=) | |
11 | g.47338642G>A | CA048708 | MYBPC3 | c.2186C>T (p.Thr729Ile) c.2168C>T (p.Thr723Ile) c.2105C>T (p.Thr702Ile) | |
11 | g.47338642G>C | CA380320529 | MYBPC3 | c.2186C>G (p.Thr729Ser) c.2168C>G (p.Thr723Ser) c.2105C>G (p.Thr702Ser) | |
11 | g.47338642G= | CA1969332490 | MYBPC3 | c.2186C= (p.Thr729=) c.2168C= (p.Thr723=) c.2105C= (p.Thr702=) | |
11 | g.47338642G>T | CA380320531 | MYBPC3 | c.2186C>A (p.Thr729Asn) c.2168C>A (p.Thr723Asn) c.2105C>A (p.Thr702Asn) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47338643T>A | CA380320535 | MYBPC3 | c.2185A>T (p.Thr729Ser) c.2167A>T (p.Thr723Ser) c.2104A>T (p.Thr702Ser) | gnomAD v4 |
11 | g.47338643T>C | CA380320534 | MYBPC3 | c.2185A>G (p.Thr729Ala) c.2167A>G (p.Thr723Ala) c.2104A>G (p.Thr702Ala) | |
11 | g.47338643T>G | CA048688 | MYBPC3 | c.2185A>C (p.Thr729Pro) c.2167A>C (p.Thr723Pro) c.2104A>C (p.Thr702Pro) | |
11 | g.47338644C>A | CA380320536 | MYBPC3 | c.2184G>T (p.Glu728Asp) c.2166G>T (p.Glu722Asp) c.2103G>T (p.Glu701Asp) | |
11 | g.47338644C= | CA1969332494 | MYBPC3 | c.2184G= (p.Glu728=) c.2166G= (p.Glu722=) c.2103G= (p.Glu701=) | |
11 | g.47338644C>G | CA380320538 | MYBPC3 | c.2184G>C (p.Glu728Asp) c.2166G>C (p.Glu722Asp) c.2103G>C (p.Glu701Asp) | ClinVar dbSNP |
11 | g.47338644C>T | CA474217060 | MYBPC3 | c.2184G>A (p.Glu728=) c.2166G>A (p.Glu722=) c.2103G>A (p.Glu701=) | |
11 | g.47338645T>A | CA380320539 | MYBPC3 | c.2183A>T (p.Glu728Val) c.2165A>T (p.Glu722Val) c.2102A>T (p.Glu701Val) | |
11 | g.47338645T>C | CA380320541 | MYBPC3 | c.2183A>G (p.Glu728Gly) c.2165A>G (p.Glu722Gly) c.2102A>G (p.Glu701Gly) | gnomAD v4 |
11 | g.47338645T>G | CA380320543 | MYBPC3 | c.2183A>C (p.Glu728Ala) c.2165A>C (p.Glu722Ala) c.2102A>C (p.Glu701Ala) | |
11 | g.47338646C>A | CA011848 | MYBPC3 | c.2182G>T (p.Glu728Ter) c.2164G>T (p.Glu722Ter) c.2101G>T (p.Glu701Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47338646C= | CA1969332499 | MYBPC3 | c.2182G= (p.Glu728=) c.2164G= (p.Glu722=) c.2101G= (p.Glu701=) | |
11 | g.47338646C>G | CA380320546 | MYBPC3 | c.2182G>C (p.Glu728Gln) c.2164G>C (p.Glu722Gln) c.2101G>C (p.Glu701Gln) | |
11 | g.47338646C>T | CA380320548 | MYBPC3 | c.2182G>A (p.Glu728Lys) c.2164G>A (p.Glu722Lys) c.2101G>A (p.Glu701Lys) | |
11 | g.47338647C>A | CA474217062 | MYBPC3 | c.2181G>T (p.Val727=) c.2163G>T (p.Val721=) c.2100G>T (p.Val700=) | |
11 | g.47338647C>G | CA474217065 | MYBPC3 | c.2181G>C (p.Val727=) c.2163G>C (p.Val721=) c.2100G>C (p.Val700=) | |
11 | g.47338647C>T | CA474217063 | MYBPC3 | c.2181G>A (p.Val727=) c.2163G>A (p.Val721=) c.2100G>A (p.Val700=) | gnomAD v4 |
11 | g.47338648A>C | CA380320550 | MYBPC3 | c.2180T>G (p.Val727Gly) c.2162T>G (p.Val721Gly) c.2099T>G (p.Val700Gly) | |
11 | g.47338648A>G | CA380320552 | MYBPC3 | c.2180T>C (p.Val727Ala) c.2162T>C (p.Val721Ala) c.2099T>C (p.Val700Ala) | |
11 | g.47338648A>T | CA380320554 | MYBPC3 | c.2180T>A (p.Val727Glu) c.2162T>A (p.Val721Glu) c.2099T>A (p.Val700Glu) | gnomAD v4 |
11 | g.47338649C>A | CA221690025 | MYBPC3 | c.2179G>T (p.Val727Leu) c.2161G>T (p.Val721Leu) c.2098G>T (p.Val700Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47338649C= | CA1969332508 | MYBPC3 | c.2179G= (p.Val727=) c.2161G= (p.Val721=) c.2098G= (p.Val700=) | |
11 | g.47338649C>G | CA380320557 | MYBPC3 | c.2179G>C (p.Val727Leu) c.2161G>C (p.Val721Leu) c.2098G>C (p.Val700Leu) | ClinVar dbSNP |
11 | g.47338649C>T | CA011840 | MYBPC3 | c.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 |
11 | g.47338650G>A | CA011832 | MYBPC3 | c.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 |
11 | g.47338650G>C | CA474217066 | MYBPC3 | c.2178C>G (p.Arg726=) c.2160C>G (p.Arg720=) c.2097C>G (p.Arg699=) | |
11 | g.47338650G= | CA1969332516 | MYBPC3 | c.2178C= (p.Arg726=) c.2160C= (p.Arg720=) c.2097C= (p.Arg699=) | |
11 | g.47338650G>T | CA474217067 | MYBPC3 | c.2178C>A (p.Arg726=) c.2160C>A (p.Arg720=) c.2097C>A (p.Arg699=) |