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.47335106_47335111delinsTTGTGT | CA2580084265 | MYBPC3 | c.2836_2841delinsACACAA (p.Ala946_His947delinsThrGln) c.2818_2823delinsACACAA (p.Ala940_His941delinsThrGln) c.2755_2760delinsACACAA (p.Ala919_His920delinsThrGln) | ClinVar |
| 11 | g.47335107T>A | CA380316313 | MYBPC3 | c.2840A>T (p.His947Leu) c.2822A>T (p.His941Leu) c.2759A>T (p.His920Leu) | dbSNP |
| 11 | g.47335107T>C | CA078979 | MYBPC3 | c.2840A>G (p.His947Arg) c.2822A>G (p.His941Arg) c.2759A>G (p.His920Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47335107T>G | CA380316315 | MYBPC3 | c.2840A>C (p.His947Pro) c.2822A>C (p.His941Pro) c.2759A>C (p.His920Pro) | |
| 11 | g.47335107T= | CA1969337120 | MYBPC3 | c.2840A= (p.His947=) c.2822A= (p.His941=) c.2759A= (p.His920=) | |
| 11 | g.47335108G>A | CA380316319 | MYBPC3 | c.2839C>T (p.His947Tyr) c.2821C>T (p.His941Tyr) c.2758C>T (p.His920Tyr) | gnomAD v4 |
| 11 | g.47335108G>C | CA380316317 | MYBPC3 | c.2839C>G (p.His947Asp) c.2821C>G (p.His941Asp) c.2758C>G (p.His920Asp) | |
| 11 | g.47335108G= | CA1969337122 | MYBPC3 | c.2839C= (p.His947=) c.2821C= (p.His941=) c.2758C= (p.His920=) | |
| 11 | g.47335108G>T | CA013033 | MYBPC3 | c.2839C>A (p.His947Asn) c.2821C>A (p.His941Asn) c.2758C>A (p.His920Asn) | ClinVar dbSNP |
| 11 | g.47335109T>A | CA474213021 | MYBPC3 | c.2838A>T (p.Ala946=) c.2820A>T (p.Ala940=) c.2757A>T (p.Ala919=) | |
| 11 | g.47335109T>C | CA078976 | MYBPC3 | c.2838A>G (p.Ala946=) c.2820A>G (p.Ala940=) c.2757A>G (p.Ala919=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47335109T>G | CA474213024 | MYBPC3 | c.2838A>C (p.Ala946=) c.2820A>C (p.Ala940=) c.2757A>C (p.Ala919=) | |
| 11 | g.47335109T= | CA1969337124 | MYBPC3 | c.2838A= (p.Ala946=) c.2820A= (p.Ala940=) c.2757A= (p.Ala919=) | |
| 11 | g.47335110G>A | CA380316322 | MYBPC3 | c.2837C>T (p.Ala946Val) c.2819C>T (p.Ala940Val) c.2756C>T (p.Ala919Val) | |
| 11 | g.47335110G>C | CA380316324 | MYBPC3 | c.2837C>G (p.Ala946Gly) c.2819C>G (p.Ala940Gly) c.2756C>G (p.Ala919Gly) | |
| 11 | g.47335110G>T | CA380316325 | MYBPC3 | c.2837C>A (p.Ala946Glu) c.2819C>A (p.Ala940Glu) c.2756C>A (p.Ala919Glu) | |
| 11 | g.47335111C>A | CA380316329 | MYBPC3 | c.2836G>T (p.Ala946Ser) c.2818G>T (p.Ala940Ser) c.2755G>T (p.Ala919Ser) | |
| 11 | g.47335111C= | CA1969337125 | MYBPC3 | c.2836G= (p.Ala946=) c.2818G= (p.Ala940=) c.2755G= (p.Ala919=) | |
| 11 | g.47335111C>G | CA380316330 | MYBPC3 | c.2836G>C (p.Ala946Pro) c.2818G>C (p.Ala940Pro) c.2755G>C (p.Ala919Pro) | |
| 11 | g.47335111C>T | CA380316332 | MYBPC3 | c.2836G>A (p.Ala946Thr) c.2818G>A (p.Ala940Thr) c.2755G>A (p.Ala919Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47335112C>A | CA474213031 | MYBPC3 | c.2835G>T (p.Arg945=) c.2817G>T (p.Arg939=) c.2754G>T (p.Arg918=) | |
| 11 | g.47335112C>G | CA474213032 | MYBPC3 | c.2835G>C (p.Arg945=) c.2817G>C (p.Arg939=) c.2754G>C (p.Arg918=) | |
| 11 | g.47335112C>T | CA474213034 | MYBPC3 | c.2835G>A (p.Arg945=) c.2817G>A (p.Arg939=) c.2754G>A (p.Arg918=) | |
| 11 | g.47335112_47335114delinsCCG | CA1969337126 | MYBPC3 | c.2833_2835delinsCGG (p.Arg945=) c.2815_2817delinsCGG (p.Arg939=) c.2752_2754delinsCGG (p.Arg918=) | |
| 11 | g.47335113C>A | CA380316335 | MYBPC3 | c.2834G>T (p.Arg945Leu) c.2816G>T (p.Arg939Leu) c.2753G>T (p.Arg918Leu) | dbSNP gnomAD v4 |
| 11 | g.47335113C= | CA1969337129 | MYBPC3 | c.2834G= (p.Arg945=) c.2816G= (p.Arg939=) c.2753G= (p.Arg918=) | |
| 11 | g.47335113C>G | CA380316336 | MYBPC3 | c.2834G>C (p.Arg945Pro) c.2816G>C (p.Arg939Pro) c.2753G>C (p.Arg918Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47335113C>T | CA380316338 | MYBPC3 | c.2834G>A (p.Arg945Gln) c.2816G>A (p.Arg939Gln) c.2753G>A (p.Arg918Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47335114_47335115del | CA013018 | MYBPC3 | c.2833_2834del (p.Arg945GlyfsTer?) c.2815_2816del (p.Arg939GlyfsTer?) c.2752_2753del (p.Arg918GlyfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47335114G>A | CA013027 | MYBPC3 | c.2833C>T (p.Arg945Trp) c.2815C>T (p.Arg939Trp) c.2752C>T (p.Arg918Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47335114G>C | CA380316342 | MYBPC3 | c.2833C>G (p.Arg945Gly) c.2815C>G (p.Arg939Gly) c.2752C>G (p.Arg918Gly) | gnomAD v4 |
| 11 | g.47335114G= | CA1969337131 | MYBPC3 | c.2833C= (p.Arg945=) c.2815C= (p.Arg939=) c.2752C= (p.Arg918=) | |
| 11 | g.47335114G>T | CA474213047 | MYBPC3 | c.2833C>A (p.Arg945=) c.2815C>A (p.Arg939=) c.2752C>A (p.Arg918=) | |
| 11 | g.47335115C>A | CA474213049 | MYBPC3 | c.2832G>T (p.Val944=) c.2814G>T (p.Val938=) c.2751G>T (p.Val917=) | |
| 11 | g.47335115C>G | CA474213052 | MYBPC3 | c.2832G>C (p.Val944=) c.2814G>C (p.Val938=) c.2751G>C (p.Val917=) | |
| 11 | g.47335115C>T | CA474213055 | MYBPC3 | c.2832G>A (p.Val944=) c.2814G>A (p.Val938=) c.2751G>A (p.Val917=) | |
| 11 | g.47335116A>C | CA380316346 | MYBPC3 | c.2831T>G (p.Val944Gly) c.2813T>G (p.Val938Gly) c.2750T>G (p.Val917Gly) | |
| 11 | g.47335116A>G | CA380316348 | MYBPC3 | c.2831T>C (p.Val944Ala) c.2813T>C (p.Val938Ala) c.2750T>C (p.Val917Ala) | |
| 11 | g.47335116A>T | CA380316344 | MYBPC3 | c.2831T>A (p.Val944Glu) c.2813T>A (p.Val938Glu) c.2750T>A (p.Val917Glu) | |
| 11 | g.47335117C>A | CA380316350 | MYBPC3 | c.2830G>T (p.Val944Leu) c.2812G>T (p.Val938Leu) c.2749G>T (p.Val917Leu) | |
| 11 | g.47335117C>G | CA380316354 | MYBPC3 | c.2830G>C (p.Val944Leu) c.2812G>C (p.Val938Leu) c.2749G>C (p.Val917Leu) | gnomAD v4 |
| 11 | g.47335117C>T | CA380316352 | MYBPC3 | c.2830G>A (p.Val944Met) c.2812G>A (p.Val938Met) c.2749G>A (p.Val917Met) | |
| 11 | g.47335118T>A | CA474213067 | MYBPC3 | c.2829A>T (p.Arg943=) c.2811A>T (p.Arg937=) c.2748A>T (p.Arg916=) | |
| 11 | g.47335118T>C | CA474213063 | MYBPC3 | c.2829A>G (p.Arg943=) c.2811A>G (p.Arg937=) c.2748A>G (p.Arg916=) | |
| 11 | g.47335118T>G | CA474213065 | MYBPC3 | c.2829A>C (p.Arg943=) c.2811A>C (p.Arg937=) c.2748A>C (p.Arg916=) | |
| 11 | g.47335119C>A | CA380316356 | MYBPC3 | c.2828G>T (p.Arg943Leu) c.2810G>T (p.Arg937Leu) c.2747G>T (p.Arg916Leu) | |
| 11 | g.47335119C= | CA1969337133 | MYBPC3 | c.2828G= (p.Arg943=) c.2810G= (p.Arg937=) c.2747G= (p.Arg916=) | |
| 11 | g.47335119C>G | CA380316359 | MYBPC3 | c.2828G>C (p.Arg943Pro) c.2810G>C (p.Arg937Pro) c.2747G>C (p.Arg916Pro) |