Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47341001A= | CA1969334456 | MYBPC3 | c.1927+2T= (n.1927+2T=) c.1909+2T= (n.1909+2T=) | |
11 | g.47341001A>C | CA380323189 | MYBPC3 | c.1927+2T>G (n.1927+2T>G) c.1909+2T>G (n.1909+2T>G) | |
11 | g.47341001A>G | CA351870 | MYBPC3 | c.1927+2T>C (n.1927+2T>C) c.1909+2T>C (n.1909+2T>C) | ClinVar dbSNP gnomAD v4 |
11 | g.47341001A>T | CA380323194 | MYBPC3 | c.1927+2T>A (n.1927+2T>A) c.1909+2T>A (n.1909+2T>A) | |
11 | g.47341002C>A | CA380323200 | MYBPC3 | c.1927+1G>T (n.1927+1G>T) c.1909+1G>T (n.1909+1G>T) | ClinVar dbSNP gnomAD v4 |
11 | g.47341002C>G | CA380323203 | MYBPC3 | c.1927+1G>C (n.1927+1G>C) c.1909+1G>C (n.1909+1G>C) | |
11 | g.47341002C>T | CA380323205 | MYBPC3 | c.1927+1G>A (n.1927+1G>A) c.1909+1G>A (n.1909+1G>A) | ClinVar dbSNP gnomAD v4 |
11 | g.47341003C>A | CA380323208 | MYBPC3 | c.1927G>T (p.Glu643Ter) c.1909G>T (p.Glu637Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47341003C= | CA1969334457 | MYBPC3 | c.1927G= (p.Glu643=) c.1909G= (p.Glu637=) | |
11 | g.47341003C>G | CA380323210 | MYBPC3 | c.1927G>C (p.Glu643Gln) c.1909G>C (p.Glu637Gln) | ClinVar dbSNP |
11 | g.47341003C>T | CA380323217 | MYBPC3 | c.1927G>A (p.Glu643Lys) c.1909G>A (p.Glu637Lys) | ClinVar gnomAD v4 |
11 | g.47341004C>A | CA380323220 | MYBPC3 | c.1926G>T (p.Gln642His) c.1908G>T (p.Gln636His) | gnomAD v4 |
11 | g.47341004C>G | CA380323222 | MYBPC3 | c.1926G>C (p.Gln642His) c.1908G>C (p.Gln636His) | |
11 | g.47341004C>T | CA474218074 | MYBPC3 | c.1926G>A (p.Gln642=) c.1908G>A (p.Gln636=) | |
11 | g.47341005T>A | CA380323226 | MYBPC3 | c.1925A>T (p.Gln642Leu) c.1907A>T (p.Gln636Leu) | |
11 | g.47341005T>C | CA380323231 | MYBPC3 | c.1925A>G (p.Gln642Arg) c.1907A>G (p.Gln636Arg) | gnomAD v4 |
11 | g.47341005T>G | CA380323228 | MYBPC3 | c.1925A>C (p.Gln642Pro) c.1907A>C (p.Gln636Pro) | |
11 | g.47341005_47341006delinsTG | CA1969334459 | MYBPC3 | c.1924_1925delinsCA (p.Gln642=) c.1906_1907delinsCA (p.Gln636=) | |
11 | g.47341006del | CA937670668 | MYBPC3 | c.1924del (p.Gln642ArgfsTer21) c.1906del (p.Gln636ArgfsTer21) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47341006G>A | CA011501 | MYBPC3 | c.1924C>T (p.Gln642Ter) c.1906C>T (p.Gln636Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47341006G>C | CA380323234 | MYBPC3 | c.1924C>G (p.Gln642Glu) c.1906C>G (p.Gln636Glu) | |
11 | g.47341006G= | CA1969334461 | MYBPC3 | c.1924C= (p.Gln642=) c.1906C= (p.Gln636=) | |
11 | g.47341006G>T | CA380323237 | MYBPC3 | c.1924C>A (p.Gln642Lys) c.1906C>A (p.Gln636Lys) | gnomAD v4 |
11 | g.47341006_47341008delinsGCC | CA1969334463 | MYBPC3 | c.1922_1924delinsGGC (p.Arg641=) c.1904_1906delinsGGC (p.Arg635=) | |
11 | g.47341007C>A | CA380323239 | MYBPC3 | c.1923G>T (p.Arg641Ser) c.1905G>T (p.Arg635Ser) | gnomAD v4 |
11 | g.47341007C>G | CA380323242 | MYBPC3 | c.1923G>C (p.Arg641Ser) c.1905G>C (p.Arg635Ser) | |
11 | g.47341007C>T | CA474218078 | MYBPC3 | c.1923G>A (p.Arg641=) c.1905G>A (p.Arg635=) | ClinVar gnomAD v4 |
11 | g.47341007_47341008del | CA1139659409 | MYBPC3 | c.1922_1923del (p.Arg641ThrfsTer25) c.1904_1905del (p.Arg635ThrfsTer25) | ClinVar dbSNP |
11 | g.47341008C>A | CA380323250 | MYBPC3 | c.1922G>T (p.Arg641Met) c.1904G>T (p.Arg635Met) | gnomAD v4 |
11 | g.47341008C>G | CA380323252 | MYBPC3 | c.1922G>C (p.Arg641Thr) c.1904G>C (p.Arg635Thr) | |
11 | g.47341008C>T | CA380323255 | MYBPC3 | c.1922G>A (p.Arg641Lys) c.1904G>A (p.Arg635Lys) | ClinVar gnomAD v4 |
11 | g.47341009T>A | CA380323258 | MYBPC3 | c.1921A>T (p.Arg641Trp) c.1903A>T (p.Arg635Trp) | gnomAD v4 |
11 | g.47341009T>C | CA380323260 | MYBPC3 | c.1921A>G (p.Arg641Gly) c.1903A>G (p.Arg635Gly) | gnomAD v4 |
11 | g.47341009T>G | CA474218080 | MYBPC3 | c.1921A>C (p.Arg641=) c.1903A>C (p.Arg635=) | gnomAD v3 gnomAD v4 |
11 | g.47341010G>A | CA474218081 | MYBPC3 | c.1920C>T (p.Pro640=) c.1902C>T (p.Pro634=) | |
11 | g.47341010G>C | CA474218082 | MYBPC3 | c.1920C>G (p.Pro640=) c.1902C>G (p.Pro634=) | |
11 | g.47341010G>T | CA474218083 | MYBPC3 | c.1920C>A (p.Pro640=) c.1902C>A (p.Pro634=) | gnomAD v4 |
11 | g.47341011G>A | CA047589 | MYBPC3 | c.1919C>T (p.Pro640Leu) c.1901C>T (p.Pro634Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47341011G>C | CA380323270 | MYBPC3 | c.1919C>G (p.Pro640Arg) c.1901C>G (p.Pro634Arg) | |
11 | g.47341011G= | CA1969334464 | MYBPC3 | c.1919C= (p.Pro640=) c.1901C= (p.Pro634=) | |
11 | g.47341011G>T | CA380323266 | MYBPC3 | c.1919C>A (p.Pro640His) c.1901C>A (p.Pro634His) | ClinVar gnomAD v4 |
11 | g.47341012G>A | CA380323275 | MYBPC3 | c.1918C>T (p.Pro640Ser) c.1900C>T (p.Pro634Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47341012G>C | CA380323278 | MYBPC3 | c.1918C>G (p.Pro640Ala) c.1900C>G (p.Pro634Ala) | gnomAD v4 |
11 | g.47341012G= | CA1969334466 | MYBPC3 | c.1918C= (p.Pro640=) c.1900C= (p.Pro634=) | |
11 | g.47341012G>T | CA380323281 | MYBPC3 | c.1918C>A (p.Pro640Thr) c.1900C>A (p.Pro634Thr) | gnomAD v4 |
11 | g.47341013T>A | CA474218086 | MYBPC3 | c.1917A>T (p.Val639=) c.1899A>T (p.Val633=) | |
11 | g.47341013T>C | CA474218087 | MYBPC3 | c.1917A>G (p.Val639=) c.1899A>G (p.Val633=) | gnomAD v4 |
11 | g.47341013T>G | CA474218088 | MYBPC3 | c.1917A>C (p.Val639=) c.1899A>C (p.Val633=) | |
11 | g.47341014A>C | CA380323283 | MYBPC3 | c.1916T>G (p.Val639Gly) c.1898T>G (p.Val633Gly) | |
11 | g.47341014A>G | CA380323288 | MYBPC3 | c.1916T>C (p.Val639Ala) c.1898T>C (p.Val633Ala) |