UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47330388_47335387del | CA2740090117 | |||
| 11 | g.47335093_47335180dup | CA2580084264 | MYBPC3 | c.2770_2857dup (p.Gly953AspfsTer?) c.2752_2839dup (p.Gly947AspfsTer?) c.2689_2776dup (p.Gly926AspfsTer?) | ClinVar |
| 11 | g.47335170_47335171dup | CA2695213956 | MYBPC3 | c.2780_2781dup (p.Ser928HisfsTer5) c.2762_2763dup (p.Ser922HisfsTer5) c.2699_2700dup (p.Ser901HisfsTer5) | |
| 11 | g.47335168_47335171dup | CA2695201132 | MYBPC3 | c.2778_2781dup (p.Ser928HisfsTer?) c.2760_2763dup (p.Ser922HisfsTer?) c.2697_2700dup (p.Ser901HisfsTer?) | ClinVar |
| 11 | g.47335170_47335171del | CA012964 | MYBPC3 | c.2780_2781del (p.Thr927IlefsTer?) c.2762_2763del (p.Thr921IlefsTer?) c.2699_2700del (p.Thr900IlefsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47335169_47335177del | CA2580084269 | MYBPC3 | c.2773_2781del (p.Glu925_Thr927del) c.2755_2763del (p.Glu919_Thr921del) c.2692_2700del (p.Glu898_Thr900del) | ClinVar |
| 11 | g.47335170T>A | CA380316641 | MYBPC3 | c.2777A>T (p.His926Leu) c.2759A>T (p.His920Leu) c.2696A>T (p.His899Leu) | |
| 11 | g.47335170T>C | CA380316643 | MYBPC3 | c.2777A>G (p.His926Arg) c.2759A>G (p.His920Arg) c.2696A>G (p.His899Arg) | dbSNP |
| 11 | g.47335170T>G | CA380316644 | MYBPC3 | c.2777A>C (p.His926Pro) c.2759A>C (p.His920Pro) c.2696A>C (p.His899Pro) | |
| 11 | g.47335170T= | CA1969337198 | MYBPC3 | c.2777A= (p.His926=) c.2759A= (p.His920=) c.2696A= (p.His899=) | |
| 11 | g.47335171G>A | CA380316648 | MYBPC3 | c.2776C>T (p.His926Tyr) c.2758C>T (p.His920Tyr) c.2695C>T (p.His899Tyr) | gnomAD v4 |
| 11 | g.47335171G>C | CA380316650 | MYBPC3 | c.2776C>G (p.His926Asp) c.2758C>G (p.His920Asp) c.2695C>G (p.His899Asp) | |
| 11 | g.47335171G>T | CA380316653 | MYBPC3 | c.2776C>A (p.His926Asn) c.2758C>A (p.His920Asn) c.2695C>A (p.His899Asn) | |
| 11 | g.47335172C>A | CA380316655 | MYBPC3 | c.2775G>T (p.Glu925Asp) c.2757G>T (p.Glu919Asp) c.2694G>T (p.Glu898Asp) | |
| 11 | g.47335172C>G | CA380316658 | MYBPC3 | c.2775G>C (p.Glu925Asp) c.2757G>C (p.Glu919Asp) c.2694G>C (p.Glu898Asp) | |
| 11 | g.47335172C>T | CA474213555 | MYBPC3 | c.2775G>A (p.Glu925=) c.2757G>A (p.Glu919=) c.2694G>A (p.Glu898=) | |
| 11 | g.47335174_47335175del | CA2580615693 | MYBPC3 | c.2774_2775del (p.Glu925AlafsTer?) c.2756_2757del (p.Glu919AlafsTer?) c.2693_2694del (p.Glu898AlafsTer?) | ClinVar |
| 11 | g.47335173T>A | CA380316661 | MYBPC3 | c.2774A>T (p.Glu925Val) c.2756A>T (p.Glu919Val) c.2693A>T (p.Glu898Val) | |
| 11 | g.47335173T>C | CA380316665 | MYBPC3 | c.2774A>G (p.Glu925Gly) c.2756A>G (p.Glu919Gly) c.2693A>G (p.Glu898Gly) | gnomAD v4 |
| 11 | g.47335173T>G | CA380316663 | MYBPC3 | c.2774A>C (p.Glu925Ala) c.2756A>C (p.Glu919Ala) c.2693A>C (p.Glu898Ala) | |
| 11 | g.47335174C>A | CA380316668 | MYBPC3 | c.2773G>T (p.Glu925Ter) c.2755G>T (p.Glu919Ter) c.2692G>T (p.Glu898Ter) | |
| 11 | g.47335174C>G | CA380316671 | MYBPC3 | c.2773G>C (p.Glu925Gln) c.2755G>C (p.Glu919Gln) c.2692G>C (p.Glu898Gln) | |
| 11 | g.47335174C>T | CA380316674 | MYBPC3 | c.2773G>A (p.Glu925Lys) c.2755G>A (p.Glu919Lys) c.2692G>A (p.Glu898Lys) | |
| 11 | g.47335175T>A | CA474213561 | MYBPC3 | c.2772A>T (p.Thr924=) c.2754A>T (p.Thr918=) c.2691A>T (p.Thr897=) | |
| 11 | g.47335175T>C | CA474213560 | MYBPC3 | c.2772A>G (p.Thr924=) c.2754A>G (p.Thr918=) c.2691A>G (p.Thr897=) | |
| 11 | g.47335175T>G | CA474213559 | MYBPC3 | c.2772A>C (p.Thr924=) c.2754A>C (p.Thr918=) c.2691A>C (p.Thr897=) | gnomAD v4 |
| 11 | g.47335176G>A | CA012957 | MYBPC3 | c.2771C>T (p.Thr924Ile) c.2753C>T (p.Thr918Ile) c.2690C>T (p.Thr897Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47335176G>C | CA380316678 | MYBPC3 | c.2771C>G (p.Thr924Arg) c.2753C>G (p.Thr918Arg) c.2690C>G (p.Thr897Arg) | |
| 11 | g.47335176G= | CA1969337200 | MYBPC3 | c.2771C= (p.Thr924=) c.2753C= (p.Thr918=) c.2690C= (p.Thr897=) | |
| 11 | g.47335176G>T | CA380316684 | MYBPC3 | c.2771C>A (p.Thr924Lys) c.2753C>A (p.Thr918Lys) c.2690C>A (p.Thr897Lys) | |
| 11 | g.47335177T>A | CA380316688 | MYBPC3 | c.2770A>T (p.Thr924Ser) c.2752A>T (p.Thr918Ser) c.2689A>T (p.Thr897Ser) | |
| 11 | g.47335177T>C | CA380316691 | MYBPC3 | c.2770A>G (p.Thr924Ala) c.2752A>G (p.Thr918Ala) c.2689A>G (p.Thr897Ala) | |
| 11 | g.47335177T>G | CA380316692 | MYBPC3 | c.2770A>C (p.Thr924Pro) c.2752A>C (p.Thr918Pro) c.2689A>C (p.Thr897Pro) | |
| 11 | g.47335178C>A | CA474213567 | MYBPC3 | c.2769G>T (p.Leu923=) c.2751G>T (p.Leu917=) c.2688G>T (p.Leu896=) | |
| 11 | g.47335178C= | CA1969337202 | MYBPC3 | c.2769G= (p.Leu923=) c.2751G= (p.Leu917=) c.2688G= (p.Leu896=) | |
| 11 | g.47335178C>G | CA474213566 | MYBPC3 | c.2769G>C (p.Leu923=) c.2751G>C (p.Leu917=) c.2688G>C (p.Leu896=) | ClinVar |
| 11 | g.47335178C>T | CA078953 | MYBPC3 | c.2769G>A (p.Leu923=) c.2751G>A (p.Leu917=) c.2688G>A (p.Leu896=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47335179A>C | CA380316704 | MYBPC3 | c.2768T>G (p.Leu923Arg) c.2750T>G (p.Leu917Arg) c.2687T>G (p.Leu896Arg) | |
| 11 | g.47335179A>G | CA380316707 | MYBPC3 | c.2768T>C (p.Leu923Pro) c.2750T>C (p.Leu917Pro) c.2687T>C (p.Leu896Pro) | |
| 11 | g.47335179A>T | CA380316709 | MYBPC3 | c.2768T>A (p.Leu923Gln) c.2750T>A (p.Leu917Gln) c.2687T>A (p.Leu896Gln) | gnomAD v4 |
| 11 | g.47335180del | CA2573053507 | MYBPC3 | c.2767del (p.Leu923Ter) c.2749del (p.Leu917Ter) c.2686del (p.Leu896Ter) | ClinVar dbSNP |
| 11 | g.47335180G>A | CA474213572 | MYBPC3 | c.2767C>T (p.Leu923=) c.2749C>T (p.Leu917=) c.2686C>T (p.Leu896=) | dbSNP gnomAD v4 |
| 11 | g.47335180G>C | CA380316713 | MYBPC3 | c.2767C>G (p.Leu923Val) c.2749C>G (p.Leu917Val) c.2686C>G (p.Leu896Val) | |
| 11 | g.47335180G= | CA1969337205 | MYBPC3 | c.2767C= (p.Leu923=) c.2749C= (p.Leu917=) c.2686C= (p.Leu896=) | |
| 11 | g.47335180G>T | CA380316716 | MYBPC3 | c.2767C>A (p.Leu923Met) c.2749C>A (p.Leu917Met) c.2686C>A (p.Leu896Met) | |
| 11 | g.47335180_47335181delinsGC | CA1969337204 | MYBPC3 | c.2766_2767delinsGC (p.Gly922=) c.2748_2749delinsGC (p.Gly916=) c.2685_2686delinsGC (p.Gly895=) | |
| 11 | g.47335181C>A | CA474213577 | MYBPC3 | c.2766G>T (p.Gly922=) c.2748G>T (p.Gly916=) c.2685G>T (p.Gly895=) | gnomAD v4 |
| 11 | g.47335181C>G | CA474213581 | MYBPC3 | c.2766G>C (p.Gly922=) c.2748G>C (p.Gly916=) c.2685G>C (p.Gly895=) | ClinVar |
| 11 | g.47335181C>T | CA051465 | MYBPC3 | c.2766G>A (p.Gly922=) c.2748G>A (p.Gly916=) c.2685G>A (p.Gly895=) | |
| 11 | g.47335184del | CA913190265 | MYBPC3 | c.2766del (p.Leu923Ter) c.2748del (p.Leu917Ter) c.2685del (p.Leu896Ter) | ClinVar dbSNP gnomAD v4 |