Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47341257_47344691del | CA913203384 | MYBPC3 | c.1091-1066_1791-12del c.1073-1066_1773-12del | |
11 | g.47342061G>A | CA010995 | MYBPC3 | c.1720C>T (p.Arg574Trp) c.1702C>T (p.Arg568Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342061G>C | CA380324297 | MYBPC3 | c.1720C>G (p.Arg574Gly) c.1702C>G (p.Arg568Gly) | dbSNP |
11 | g.47342061G= | CA1969335339 | MYBPC3 | c.1720C= (p.Arg574=) c.1702C= (p.Arg568=) | |
11 | g.47342061G>T | CA010986 | MYBPC3 | c.1720C>A (p.Arg574=) c.1702C>A (p.Arg568=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342062A= | CA1969335344 | MYBPC3 | c.1719T= (p.Val573=) c.1701T= (p.Val567=) | |
11 | g.47342062A>C | CA010977 | MYBPC3 | c.1719T>G (p.Val573=) c.1701T>G (p.Val567=) | ClinVar dbSNP |
11 | g.47342062A>G | CA474218868 | MYBPC3 | c.1719T>C (p.Val573=) c.1701T>C (p.Val567=) | ClinVar dbSNP |
11 | g.47342062A>T | CA010969 | MYBPC3 | c.1719T>A (p.Val573=) c.1701T>A (p.Val567=) | ClinVar dbSNP gnomAD v4 |
11 | g.47342063A>C | CA380324298 | MYBPC3 | c.1718T>G (p.Val573Gly) c.1700T>G (p.Val567Gly) | |
11 | g.47342063A>G | CA380324300 | MYBPC3 | c.1718T>C (p.Val573Ala) c.1700T>C (p.Val567Ala) | |
11 | g.47342063A>T | CA380324299 | MYBPC3 | c.1718T>A (p.Val573Asp) c.1700T>A (p.Val567Asp) | |
11 | g.47342064C>A | CA380324301 | MYBPC3 | c.1717G>T (p.Val573Phe) c.1699G>T (p.Val567Phe) | |
11 | g.47342064C>G | CA380324302 | MYBPC3 | c.1717G>C (p.Val573Leu) c.1699G>C (p.Val567Leu) | |
11 | g.47342064C>T | CA380324303 | MYBPC3 | c.1717G>A (p.Val573Ile) c.1699G>A (p.Val567Ile) | |
11 | g.47342065A= | CA1969335347 | MYBPC3 | c.1716T= (p.Asn572=) c.1698T= (p.Asn566=) | |
11 | g.47342065A>C | CA380324304 | MYBPC3 | c.1716T>G (p.Asn572Lys) c.1698T>G (p.Asn566Lys) | |
11 | g.47342065A>G | CA474218889 | MYBPC3 | c.1716T>C (p.Asn572=) c.1698T>C (p.Asn566=) | ClinVar dbSNP gnomAD v4 |
11 | g.47342065A>T | CA380324305 | MYBPC3 | c.1716T>A (p.Asn572Lys) c.1698T>A (p.Asn566Lys) | dbSNP gnomAD v2 |
11 | g.47342066T>A | CA380324306 | MYBPC3 | c.1715A>T (p.Asn572Ile) c.1697A>T (p.Asn566Ile) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47342066T>C | CA380324307 | MYBPC3 | c.1715A>G (p.Asn572Ser) c.1697A>G (p.Asn566Ser) | |
11 | g.47342066T>G | CA380324308 | MYBPC3 | c.1715A>C (p.Asn572Thr) c.1697A>C (p.Asn566Thr) | |
11 | g.47342066T= | CA1969335349 | MYBPC3 | c.1715A= (p.Asn572=) c.1697A= (p.Asn566=) | |
11 | g.47342067T>A | CA380324309 | MYBPC3 | c.1714A>T (p.Asn572Tyr) c.1696A>T (p.Asn566Tyr) | |
11 | g.47342067T>C | CA380324310 | MYBPC3 | c.1714A>G (p.Asn572Asp) c.1696A>G (p.Asn566Asp) | ClinVar |
11 | g.47342067T>G | CA380324311 | MYBPC3 | c.1714A>C (p.Asn572His) c.1696A>C (p.Asn566His) | |
11 | g.47342068C>A | CA380324312 | MYBPC3 | c.1713G>T (p.Glu571Asp) c.1695G>T (p.Glu565Asp) | |
11 | g.47342068C= | CA1969335350 | MYBPC3 | c.1713G= (p.Glu571=) c.1695G= (p.Glu565=) | |
11 | g.47342068C>G | CA380324313 | MYBPC3 | c.1713G>C (p.Glu571Asp) c.1695G>C (p.Glu565Asp) | |
11 | g.47342068C>T | CA16613619 | MYBPC3 | c.1713G>A (p.Glu571=) c.1695G>A (p.Glu565=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47342069T>A | CA380324314 | MYBPC3 | c.1712A>T (p.Glu571Val) c.1694A>T (p.Glu565Val) | |
11 | g.47342069T>C | CA380324316 | MYBPC3 | c.1712A>G (p.Glu571Gly) c.1694A>G (p.Glu565Gly) | |
11 | g.47342069T>G | CA380324315 | MYBPC3 | c.1712A>C (p.Glu571Ala) c.1694A>C (p.Glu565Ala) | |
11 | g.47342070C>A | CA380324317 | MYBPC3 | c.1711G>T (p.Glu571Ter) c.1693G>T (p.Glu565Ter) | |
11 | g.47342070C>G | CA380324319 | MYBPC3 | c.1711G>C (p.Glu571Gln) c.1693G>C (p.Glu565Gln) | |
11 | g.47342070C>T | CA380324318 | MYBPC3 | c.1711G>A (p.Glu571Lys) c.1693G>A (p.Glu565Lys) | |
11 | g.47342071A>C | CA380324320 | MYBPC3 | c.1710T>G (p.Asp570Glu) c.1692T>G (p.Asp564Glu) | gnomAD v4 |
11 | g.47342071A>G | CA474218912 | MYBPC3 | c.1710T>C (p.Asp570=) c.1692T>C (p.Asp564=) | |
11 | g.47342071A>T | CA380324321 | MYBPC3 | c.1710T>A (p.Asp570Glu) c.1692T>A (p.Asp564Glu) | |
11 | g.47342071_47342073delinsATC | CA1969335352 | MYBPC3 | c.1708_1710delinsGAT (p.Asp570=) c.1690_1692delinsGAT (p.Asp564=) | |
11 | g.47342072T>A | CA380324322 | MYBPC3 | c.1709A>T (p.Asp570Val) c.1691A>T (p.Asp564Val) | |
11 | g.47342072T>C | CA380324323 | MYBPC3 | c.1709A>G (p.Asp570Gly) c.1691A>G (p.Asp564Gly) | ClinVar |
11 | g.47342072T>G | CA380324324 | MYBPC3 | c.1709A>C (p.Asp570Ala) c.1691A>C (p.Asp564Ala) | gnomAD v4 |
11 | g.47342072dup | CA2695212784 | MYBPC3 | c.1709dup (p.Asp570GlufsTer2) c.1691dup (p.Asp564GlufsTer2) | |
11 | g.47342073_47342074del | CA1969335353 | MYBPC3 | c.1708_1709del (p.Asp570Ter) c.1690_1691del (p.Asp564Ter) | dbSNP |
11 | g.47342073C>A | CA380324325 | MYBPC3 | c.1708G>T (p.Asp570Tyr) c.1690G>T (p.Asp564Tyr) | |
11 | g.47342073C>G | CA380324326 | MYBPC3 | c.1708G>C (p.Asp570His) c.1690G>C (p.Asp564His) | |
11 | g.47342073C>T | CA380324327 | MYBPC3 | c.1708G>A (p.Asp570Asn) c.1690G>A (p.Asp564Asn) | gnomAD v4 |
11 | g.47342074T>A | CA474218917 | MYBPC3 | c.1707A>T (p.Ser569=) c.1689A>T (p.Ser563=) | dbSNP |
11 | g.47342074T>C | CA474218922 | MYBPC3 | c.1707A>G (p.Ser569=) c.1689A>G (p.Ser563=) |