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.47342090_47342183del | CA273865 | MYBPC3 | c.1625-27_1691del c.1607-27_1673del | |
11 | g.47342104del | CA010909 | MYBPC3 | c.1678del (p.Asp560ThrfsTer19) c.1660del (p.Asp554ThrfsTer19) | ClinVar dbSNP gnomAD v4 |
11 | g.47342104C>A | CA380324393 | MYBPC3 | c.1677G>T (p.Lys559Asn) c.1659G>T (p.Lys553Asn) | |
11 | g.47342104C= | CA1969335382 | MYBPC3 | c.1677G= (p.Lys559=) c.1659G= (p.Lys553=) | |
11 | g.47342104C>G | CA380324394 | MYBPC3 | c.1677G>C (p.Lys559Asn) c.1659G>C (p.Lys553Asn) | |
11 | g.47342104C>T | CA078262 | MYBPC3 | c.1677G>A (p.Lys559=) c.1659G>A (p.Lys553=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47342105T>A | CA380324395 | MYBPC3 | c.1676A>T (p.Lys559Met) c.1658A>T (p.Lys553Met) | |
11 | g.47342105T>C | CA380324396 | MYBPC3 | c.1676A>G (p.Lys559Arg) c.1658A>G (p.Lys553Arg) | gnomAD v4 |
11 | g.47342105T>G | CA380324397 | MYBPC3 | c.1676A>C (p.Lys559Thr) c.1658A>C (p.Lys553Thr) | |
11 | g.47342106T>A | CA380324398 | MYBPC3 | c.1675A>T (p.Lys559Ter) c.1657A>T (p.Lys553Ter) | |
11 | g.47342106T>C | CA380324400 | MYBPC3 | c.1675A>G (p.Lys559Glu) c.1657A>G (p.Lys553Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47342106T>G | CA380324399 | MYBPC3 | c.1675A>C (p.Lys559Gln) c.1657A>C (p.Lys553Gln) | |
11 | g.47342106T= | CA1969335384 | MYBPC3 | c.1675A= (p.Lys559=) c.1657A= (p.Lys553=) | |
11 | g.47342107T>A | CA474219000 | MYBPC3 | c.1674A>T (p.Ala558=) c.1656A>T (p.Ala552=) | |
11 | g.47342107T>C | CA474219001 | MYBPC3 | c.1674A>G (p.Ala558=) c.1656A>G (p.Ala552=) | |
11 | g.47342107T>G | CA474219002 | MYBPC3 | c.1674A>C (p.Ala558=) c.1656A>C (p.Ala552=) | |
11 | g.47342108G>A | CA380324401 | MYBPC3 | c.1673C>T (p.Ala558Val) c.1655C>T (p.Ala552Val) | |
11 | g.47342108G>C | CA380324402 | MYBPC3 | c.1673C>G (p.Ala558Gly) c.1655C>G (p.Ala552Gly) | |
11 | g.47342108G>T | CA380324403 | MYBPC3 | c.1673C>A (p.Ala558Glu) c.1655C>A (p.Ala552Glu) | |
11 | g.47342110_47342111del | CA2695212785 | MYBPC3 | c.1672_1673del (p.Ala558LysfsTer9) c.1654_1655del (p.Ala552LysfsTer9) | |
11 | g.47342109C>A | CA380324404 | MYBPC3 | c.1672G>T (p.Ala558Ser) c.1654G>T (p.Ala552Ser) | |
11 | g.47342109C= | CA1969335386 | MYBPC3 | c.1672G= (p.Ala558=) c.1654G= (p.Ala552=) | |
11 | g.47342109C>G | CA380324405 | MYBPC3 | c.1672G>C (p.Ala558Pro) c.1654G>C (p.Ala552Pro) | |
11 | g.47342109C>T | CA010902 | MYBPC3 | c.1672G>A (p.Ala558Thr) c.1654G>A (p.Ala552Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342110G>A | CA078259 | MYBPC3 | c.1671C>T (p.Gly557=) c.1653C>T (p.Gly551=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47342110G>C | CA474219007 | MYBPC3 | c.1671C>G (p.Gly557=) c.1653C>G (p.Gly551=) | |
11 | g.47342110G= | CA1969335389 | MYBPC3 | c.1671C= (p.Gly557=) c.1653C= (p.Gly551=) | |
11 | g.47342110G>T | CA474219006 | MYBPC3 | c.1671C>A (p.Gly557=) c.1653C>A (p.Gly551=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342111C>A | CA380324406 | MYBPC3 | c.1670G>T (p.Gly557Val) c.1652G>T (p.Gly551Val) | COSMIC |
11 | g.47342111C= | CA1969335392 | MYBPC3 | c.1670G= (p.Gly557=) c.1652G= (p.Gly551=) | |
11 | g.47342111C>G | CA380324407 | MYBPC3 | c.1670G>C (p.Gly557Ala) c.1652G>C (p.Gly551Ala) | |
11 | g.47342111C>T | CA010893 | MYBPC3 | c.1670G>A (p.Gly557Asp) c.1652G>A (p.Gly551Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47342113dup | CA915940857 | MYBPC3 | c.1670dup (p.Ala558ArgfsTer10) c.1652dup (p.Ala552ArgfsTer10) | |
11 | g.47342113del | CA2695212786 | MYBPC3 | c.1670del (p.Gly557AlafsTer22) c.1652del (p.Gly551AlafsTer22) | |
11 | g.47342112C>A | CA380324408 | MYBPC3 | c.1669G>T (p.Gly557Cys) c.1651G>T (p.Gly551Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47342112C= | CA1969335395 | MYBPC3 | c.1669G= (p.Gly557=) c.1651G= (p.Gly551=) | |
11 | g.47342112C>G | CA380324409 | MYBPC3 | c.1669G>C (p.Gly557Arg) c.1651G>C (p.Gly551Arg) | |
11 | g.47342112C>T | CA010880 | MYBPC3 | c.1669G>A (p.Gly557Ser) c.1651G>A (p.Gly551Ser) | ClinVar dbSNP |
11 | g.47342113C>A | CA474219010 | MYBPC3 | c.1668G>T (p.Val556=) c.1650G>T (p.Val550=) | |
11 | g.47342113C>G | CA474219011 | MYBPC3 | c.1668G>C (p.Val556=) c.1650G>C (p.Val550=) | |
11 | g.47342113C>T | CA474219012 | MYBPC3 | c.1668G>A (p.Val556=) c.1650G>A (p.Val550=) | gnomAD v4 |
11 | g.47342114A= | CA1969335398 | MYBPC3 | c.1667T= (p.Val556=) c.1649T= (p.Val550=) | |
11 | g.47342114A>C | CA380324412 | MYBPC3 | c.1667T>G (p.Val556Gly) c.1649T>G (p.Val550Gly) | dbSNP |
11 | g.47342114A>G | CA380324410 | MYBPC3 | c.1667T>C (p.Val556Ala) c.1649T>C (p.Val550Ala) | |
11 | g.47342114A>T | CA380324411 | MYBPC3 | c.1667T>A (p.Val556Glu) c.1649T>A (p.Val550Glu) | |
11 | g.47342115C>A | CA380324413 | MYBPC3 | c.1666G>T (p.Val556Leu) c.1648G>T (p.Val550Leu) | ClinVar dbSNP gnomAD v4 |
11 | g.47342115C>G | CA380324414 | MYBPC3 | c.1666G>C (p.Val556Leu) c.1648G>C (p.Val550Leu) | |
11 | g.47342115C>T | CA380324415 | MYBPC3 | c.1666G>A (p.Val556Met) c.1648G>A (p.Val550Met) | |
11 | g.47342116del | CA2580084232 | MYBPC3 | c.1666del (p.Val556TrpfsTer23) c.1648del (p.Val550TrpfsTer23) | ClinVar |