| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47341216_47341229del | CA2580084222 | MYBPC3 | c.1808_1821del (p.Ile603ThrfsTer6) c.1790_1803del (p.Ile597ThrfsTer6) | ClinVar |
| 11 | g.47341225_47341226delinsCA | CA1969334740 | MYBPC3 | c.1809_1810delinsTG (p.Ile603=) c.1791_1792delinsTG (p.Ile597=) | |
| 11 | g.47341226A= | CA1969334742 | MYBPC3 | c.1809T= (p.Ile603=) c.1791T= (p.Ile597=) | |
| 11 | g.47341226A>C | CA078307 | MYBPC3 | c.1809T>G (p.Ile603Met) c.1791T>G (p.Ile597Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47341226A>G | CA474218239 | MYBPC3 | c.1809T>C (p.Ile603=) c.1791T>C (p.Ile597=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341226A>T | CA474218240 | MYBPC3 | c.1809T>A (p.Ile603=) c.1791T>A (p.Ile597=) | |
| 11 | g.47341227del | CA16619340 | MYBPC3 | c.1809del (p.Ile603MetfsTer?) c.1791del (p.Ile597MetfsTer?) | ClinVar dbSNP |
| 11 | g.47341227A= | CA1969334745 | MYBPC3 | c.1808T= (p.Ile603=) c.1790T= (p.Ile597=) | |
| 11 | g.47341227A>C | CA380324025 | MYBPC3 | c.1808T>G (p.Ile603Ser) c.1790T>G (p.Ile597Ser) | |
| 11 | g.47341227A>G | CA011205 | MYBPC3 | c.1808T>C (p.Ile603Thr) c.1790T>C (p.Ile597Thr) | ClinVar dbSNP |
| 11 | g.47341227A>T | CA380324027 | MYBPC3 | c.1808T>A (p.Ile603Asn) c.1790T>A (p.Ile597Asn) | |
| 11 | g.47341227_47341228insATC | CA2697548578 | MYBPC3 | c.1807_1808insGAT (p.Ile603delinsArgPhe) c.1789_1790insGAT (p.Ile597delinsArgPhe) | ClinVar |
| 11 | g.47341228T>A | CA380324030 | MYBPC3 | c.1807A>T (p.Ile603Phe) c.1789A>T (p.Ile597Phe) | |
| 11 | g.47341228T>C | CA380324032 | MYBPC3 | c.1807A>G (p.Ile603Val) c.1789A>G (p.Ile597Val) | |
| 11 | g.47341228T>G | CA380324034 | MYBPC3 | c.1807A>C (p.Ile603Leu) c.1789A>C (p.Ile597Leu) | |
| 11 | g.47341228_47341229delinsTG | CA1969334746 | MYBPC3 | c.1806_1807delinsCA (p.Thr602=) c.1788_1789delinsCA (p.Thr596=) | |
| 11 | g.47341229G>A | CA474218254 | MYBPC3 | c.1806C>T (p.Thr602=) c.1788C>T (p.Thr596=) | gnomAD v4 |
| 11 | g.47341229G>C | CA474218257 | MYBPC3 | c.1806C>G (p.Thr602=) c.1788C>G (p.Thr596=) | gnomAD v4 |
| 11 | g.47341229G= | CA1969334749 | MYBPC3 | c.1806C= (p.Thr602=) c.1788C= (p.Thr596=) | |
| 11 | g.47341229G>T | CA078304 | MYBPC3 | c.1806C>A (p.Thr602=) c.1788C>A (p.Thr596=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341230del | CA011196 | MYBPC3 | c.1806del (p.Ile603LeufsTer?) c.1788del (p.Ile597LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341230G>A | CA011188 | MYBPC3 | c.1805C>T (p.Thr602Ile) c.1787C>T (p.Thr596Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341230G>C | CA380324038 | MYBPC3 | c.1805C>G (p.Thr602Ser) c.1787C>G (p.Thr596Ser) | |
| 11 | g.47341230G= | CA1969334752 | MYBPC3 | c.1805C= (p.Thr602=) c.1787C= (p.Thr596=) | |
| 11 | g.47341230G>T | CA380324040 | MYBPC3 | c.1805C>A (p.Thr602Asn) c.1787C>A (p.Thr596Asn) | |
| 11 | g.47341231T>A | CA380324042 | MYBPC3 | c.1804A>T (p.Thr602Ser) c.1786A>T (p.Thr596Ser) | |
| 11 | g.47341231T>C | CA380324044 | MYBPC3 | c.1804A>G (p.Thr602Ala) c.1786A>G (p.Thr596Ala) | gnomAD v4 |
| 11 | g.47341231T>G | CA380324046 | MYBPC3 | c.1804A>C (p.Thr602Pro) c.1786A>C (p.Thr596Pro) | |
| 11 | g.47341232C>A | CA474218266 | MYBPC3 | c.1803G>T (p.Leu601=) c.1785G>T (p.Leu595=) | gnomAD v4 |
| 11 | g.47341232C= | CA1969334753 | MYBPC3 | c.1803G= (p.Leu601=) c.1785G= (p.Leu595=) | |
| 11 | g.47341232C>G | CA474218264 | MYBPC3 | c.1803G>C (p.Leu601=) c.1785G>C (p.Leu595=) | |
| 11 | g.47341232C>T | CA011180 | MYBPC3 | c.1803G>A (p.Leu601=) c.1785G>A (p.Leu595=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341233A>C | CA380324049 | MYBPC3 | c.1802T>G (p.Leu601Arg) c.1784T>G (p.Leu595Arg) | |
| 11 | g.47341233A>G | CA380324052 | MYBPC3 | c.1802T>C (p.Leu601Pro) c.1784T>C (p.Leu595Pro) | gnomAD v4 |
| 11 | g.47341233A>T | CA380324051 | MYBPC3 | c.1802T>A (p.Leu601Gln) c.1784T>A (p.Leu595Gln) | |
| 11 | g.47341234G>A | CA474218271 | MYBPC3 | c.1801C>T (p.Leu601=) c.1783C>T (p.Leu595=) | gnomAD v4 |
| 11 | g.47341234G>C | CA380324054 | MYBPC3 | c.1801C>G (p.Leu601Val) c.1783C>G (p.Leu595Val) | |
| 11 | g.47341234G>T | CA380324056 | MYBPC3 | c.1801C>A (p.Leu601Met) c.1783C>A (p.Leu595Met) | gnomAD v4 |
| 11 | g.47341234_47341235delinsGT | CA1969334755 | MYBPC3 | c.1800_1801delinsAC (p.Lys600=) c.1782_1783delinsAC (p.Lys594=) | |
| 11 | g.47341235T>A | CA380324057 | MYBPC3 | c.1800A>T (p.Lys600Asn) c.1782A>T (p.Lys594Asn) | |
| 11 | g.47341235T>C | CA474218294 | MYBPC3 | c.1800A>G (p.Lys600=) c.1782A>G (p.Lys594=) | |
| 11 | g.47341235T>G | CA380324059 | MYBPC3 | c.1800A>C (p.Lys600Asn) c.1782A>C (p.Lys594Asn) | |
| 11 | g.47341237del | CA011173 | MYBPC3 | c.1800del (p.Lys600AsnfsTer2) c.1782del (p.Lys594AsnfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47341236T>A | CA380324065 | MYBPC3 | c.1799A>T (p.Lys600Ile) c.1781A>T (p.Lys594Ile) | |
| 11 | g.47341236T>C | CA380324067 | MYBPC3 | c.1799A>G (p.Lys600Arg) c.1781A>G (p.Lys594Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341236T>G | CA380324063 | MYBPC3 | c.1799A>C (p.Lys600Thr) c.1781A>C (p.Lys594Thr) | |
| 11 | g.47341237T>A | CA380324071 | MYBPC3 | c.1798A>T (p.Lys600Ter) c.1780A>T (p.Lys594Ter) | |
| 11 | g.47341237T>C | CA380324069 | MYBPC3 | c.1798A>G (p.Lys600Glu) c.1780A>G (p.Lys594Glu) | gnomAD v4 |
| 11 | g.47341237T>G | CA380324073 | MYBPC3 | c.1798A>C (p.Lys600Gln) c.1780A>C (p.Lys594Gln) | |
| 11 | g.47341238del | CA2695212781 | MYBPC3 | c.1797del (p.His599GlnfsTer3) c.1779del (p.His593GlnfsTer3) |