Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47338548_47338549delinsGT | CA1969332239 | MYBPC3 | c.2279_2280delinsAC (p.Asp760=) c.2261_2262delinsAC (p.Asp754=) c.2198_2199delinsAC (p.Asp733=) | |
11 | g.47338549del | CA16613383 | MYBPC3 | c.2279del (p.Asp760AlafsTer?) c.2261del (p.Asp754AlafsTer?) c.2198del (p.Asp733AlafsTer?) | ClinVar dbSNP |
11 | g.47338549T>A | CA380320197 | MYBPC3 | c.2279A>T (p.Asp760Val) c.2261A>T (p.Asp754Val) c.2198A>T (p.Asp733Val) | |
11 | g.47338549T>C | CA380320198 | MYBPC3 | c.2279A>G (p.Asp760Gly) c.2261A>G (p.Asp754Gly) c.2198A>G (p.Asp733Gly) | |
11 | g.47338549T>G | CA380320199 | MYBPC3 | c.2279A>C (p.Asp760Ala) c.2261A>C (p.Asp754Ala) c.2198A>C (p.Asp733Ala) | |
11 | g.47338550C>A | CA380320200 | MYBPC3 | c.2278G>T (p.Asp760Tyr) c.2260G>T (p.Asp754Tyr) c.2197G>T (p.Asp733Tyr) | |
11 | g.47338550C= | CA1969332245 | MYBPC3 | c.2278G= (p.Asp760=) c.2260G= (p.Asp754=) c.2197G= (p.Asp733=) | |
11 | g.47338550C>G | CA078614 | MYBPC3 | c.2278G>C (p.Asp760His) c.2260G>C (p.Asp754His) c.2197G>C (p.Asp733His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47338550C>T | CA380320201 | MYBPC3 | c.2278G>A (p.Asp760Asn) c.2260G>A (p.Asp754Asn) c.2197G>A (p.Asp733Asn) | dbSNP |
11 | g.47338550_47338551delinsGT | CA2580084163 | MYBPC3 | c.2277_2278delinsAC (p.Asp760His) c.2259_2260delinsAC (p.Asp754His) c.2196_2197delinsAC (p.Asp733His) | ClinVar |
11 | g.47338551C>A | CA380320202 | MYBPC3 | c.2277G>T (p.Glu759Asp) c.2259G>T (p.Glu753Asp) c.2196G>T (p.Glu732Asp) | |
11 | g.47338551C= | CA1969332249 | MYBPC3 | c.2277G= (p.Glu759=) c.2259G= (p.Glu753=) c.2196G= (p.Glu732=) | |
11 | g.47338551C>G | CA380320203 | MYBPC3 | c.2277G>C (p.Glu759Asp) c.2259G>C (p.Glu753Asp) c.2196G>C (p.Glu732Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338551C>T | CA078612 | MYBPC3 | c.2277G>A (p.Glu759=) c.2259G>A (p.Glu753=) c.2196G>A (p.Glu732=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47338552T>A | CA380320205 | MYBPC3 | c.2276A>T (p.Glu759Val) c.2258A>T (p.Glu753Val) c.2195A>T (p.Glu732Val) | |
11 | g.47338552T>C | CA380320204 | MYBPC3 | c.2276A>G (p.Glu759Gly) c.2258A>G (p.Glu753Gly) c.2195A>G (p.Glu732Gly) | |
11 | g.47338552T>G | CA380320206 | MYBPC3 | c.2276A>C (p.Glu759Ala) c.2258A>C (p.Glu753Ala) c.2195A>C (p.Glu732Ala) | |
11 | g.47338553C>A | CA380320207 | MYBPC3 | c.2275G>T (p.Glu759Ter) c.2257G>T (p.Glu753Ter) c.2194G>T (p.Glu732Ter) | |
11 | g.47338553C= | CA1969332253 | MYBPC3 | c.2275G= (p.Glu759=) c.2257G= (p.Glu753=) c.2194G= (p.Glu732=) | |
11 | g.47338553C>G | CA049009 | MYBPC3 | c.2275G>C (p.Glu759Gln) c.2257G>C (p.Glu753Gln) c.2194G>C (p.Glu732Gln) | |
11 | g.47338553C>T | CA078609 | MYBPC3 | c.2275G>A (p.Glu759Lys) c.2257G>A (p.Glu753Lys) c.2194G>A (p.Glu732Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338554G>A | CA011968 | MYBPC3 | c.2274C>T (p.Gly758=) c.2256C>T (p.Gly752=) c.2193C>T (p.Gly731=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47338554G>C | CA474216971 | MYBPC3 | c.2274C>G (p.Gly758=) c.2256C>G (p.Gly752=) c.2193C>G (p.Gly731=) | |
11 | g.47338554G= | CA1969332258 | MYBPC3 | c.2274C= (p.Gly758=) c.2256C= (p.Gly752=) c.2193C= (p.Gly731=) | |
11 | g.47338554G>T | CA474216972 | MYBPC3 | c.2274C>A (p.Gly758=) c.2256C>A (p.Gly752=) c.2193C>A (p.Gly731=) | |
11 | g.47338555C>A | CA380320208 | MYBPC3 | c.2273G>T (p.Gly758Val) c.2255G>T (p.Gly752Val) c.2192G>T (p.Gly731Val) | |
11 | g.47338555C= | CA1969332266 | MYBPC3 | c.2273G= (p.Gly758=) c.2255G= (p.Gly752=) c.2192G= (p.Gly731=) | |
11 | g.47338555C>G | CA380320209 | MYBPC3 | c.2273G>C (p.Gly758Ala) c.2255G>C (p.Gly752Ala) c.2192G>C (p.Gly731Ala) | |
11 | g.47338555C>T | CA380320210 | MYBPC3 | c.2273G>A (p.Gly758Asp) c.2255G>A (p.Gly752Asp) c.2192G>A (p.Gly731Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338556C>A | CA380320211 | MYBPC3 | c.2272G>T (p.Gly758Cys) c.2254G>T (p.Gly752Cys) c.2191G>T (p.Gly731Cys) | |
11 | g.47338556C>G | CA380320212 | MYBPC3 | c.2272G>C (p.Gly758Arg) c.2254G>C (p.Gly752Arg) c.2191G>C (p.Gly731Arg) | |
11 | g.47338556C>T | CA048984 | MYBPC3 | c.2272G>A (p.Gly758Ser) c.2254G>A (p.Gly752Ser) c.2191G>A (p.Gly731Ser) | |
11 | g.47338557C>A | CA474216975 | MYBPC3 | c.2271G>T (p.Val757=) c.2253G>T (p.Val751=) c.2190G>T (p.Val730=) | |
11 | g.47338557C= | CA1969332268 | MYBPC3 | c.2271G= (p.Val757=) c.2253G= (p.Val751=) c.2190G= (p.Val730=) | |
11 | g.47338557C>G | CA474216974 | MYBPC3 | c.2271G>C (p.Val757=) c.2253G>C (p.Val751=) c.2190G>C (p.Val730=) | |
11 | g.47338557C>T | CA078605 | MYBPC3 | c.2271G>A (p.Val757=) c.2253G>A (p.Val751=) c.2190G>A (p.Val730=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.47338558A= | CA1969332269 | MYBPC3 | c.2270T= (p.Val757=) c.2252T= (p.Val751=) c.2189T= (p.Val730=) | |
11 | g.47338558A>C | CA380320215 | MYBPC3 | c.2270T>G (p.Val757Gly) c.2252T>G (p.Val751Gly) c.2189T>G (p.Val730Gly) | |
11 | g.47338558A>G | CA380320214 | MYBPC3 | c.2270T>C (p.Val757Ala) c.2252T>C (p.Val751Ala) c.2189T>C (p.Val730Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338558A>T | CA380320213 | MYBPC3 | c.2270T>A (p.Val757Glu) c.2252T>A (p.Val751Glu) c.2189T>A (p.Val730Glu) | |
11 | g.47338559C>A | CA380320216 | MYBPC3 | c.2269G>T (p.Val757Leu) c.2251G>T (p.Val751Leu) c.2188G>T (p.Val730Leu) | |
11 | g.47338559C= | CA1969332270 | MYBPC3 | c.2269G= (p.Val757=) c.2251G= (p.Val751=) c.2188G= (p.Val730=) | |
11 | g.47338559C>G | CA380320217 | MYBPC3 | c.2269G>C (p.Val757Leu) c.2251G>C (p.Val751Leu) c.2188G>C (p.Val730Leu) | |
11 | g.47338559C>T | CA011961 | MYBPC3 | c.2269G>A (p.Val757Met) c.2251G>A (p.Val751Met) c.2188G>A (p.Val730Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47338560A= | CA1969332274 | MYBPC3 | c.2268T= (p.Pro756=) c.2250T= (p.Pro750=) c.2187T= (p.Pro729=) | |
11 | g.47338560A>C | CA474216978 | MYBPC3 | c.2268T>G (p.Pro756=) c.2250T>G (p.Pro750=) c.2187T>G (p.Pro729=) | |
11 | g.47338560A>G | CA474216979 | MYBPC3 | c.2268T>C (p.Pro756=) c.2250T>C (p.Pro750=) c.2187T>C (p.Pro729=) | ClinVar dbSNP |
11 | g.47338560A>T | CA474216980 | MYBPC3 | c.2268T>A (p.Pro756=) c.2250T>A (p.Pro750=) c.2187T>A (p.Pro729=) | |
11 | g.47338560_47338561delinsAG | CA1969332273 | MYBPC3 | c.2267_2268delinsCT (p.Pro756=) c.2249_2250delinsCT (p.Pro750=) c.2186_2187delinsCT (p.Pro729=) | |
11 | g.47338561G>A | CA380320218 | MYBPC3 | c.2267C>T (p.Pro756Leu) c.2249C>T (p.Pro750Leu) c.2186C>T (p.Pro729Leu) | dbSNP |