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.47332259_47335041del | CA2580084187 | MYBPC3 | c.2905+1_3628-1del c.2887+1_3610-1del c.2824+1_3547-1del | ClinVar |
| 11 | g.47332677_47333963del | CA2573051316 | MYBPC3 | c.2956_3519del c.2938_3501del c.2875_3438del | ClinVar |
| 11 | g.47332675_47335092del | CA2573051317 | MYBPC3 | c.2855_3518del c.2837_3500del c.2774_3437del | ClinVar |
| 11 | g.47333552_47333565delinsCGCACCAACAACCT | CA1969335622 | MYBPC3 | c.3182_3190+5delinsAGGTTGTTGGTGCG c.3164_3172+5delinsAGGTTGTTGGTGCG c.3101_3109+5delinsAGGTTGTTGGTGCG | |
| 11 | g.47333556_47333568del | CA296495 | MYBPC3 | c.3182_3190+4del c.3164_3172+4del c.3101_3109+4del | ClinVar dbSNP |
| 11 | g.47333561_47333563del | CA915940864 | MYBPC3 | c.3188_3190del (p.Val1063del) c.3170_3172del (p.Val1057del) c.3107_3109del (p.Val1036del) | ClinVar dbSNP |
| 11 | g.47333561A>C | CA474212261 | MYBPC3 | c.3186T>G (p.Val1062=) c.3168T>G (p.Val1056=) c.3105T>G (p.Val1035=) | |
| 11 | g.47333561A>G | CA474212262 | MYBPC3 | c.3186T>C (p.Val1062=) c.3168T>C (p.Val1056=) c.3105T>C (p.Val1035=) | |
| 11 | g.47333561A>T | CA474212263 | MYBPC3 | c.3186T>A (p.Val1062=) c.3168T>A (p.Val1056=) c.3105T>A (p.Val1035=) | |
| 11 | g.47333562A= | CA1969335681 | MYBPC3 | c.3185T= (p.Val1062=) c.3167T= (p.Val1056=) c.3104T= (p.Val1035=) | |
| 11 | g.47333562A>C | CA380314617 | MYBPC3 | c.3185T>G (p.Val1062Gly) c.3167T>G (p.Val1056Gly) c.3104T>G (p.Val1035Gly) | |
| 11 | g.47333562A>G | CA380314622 | MYBPC3 | c.3185T>C (p.Val1062Ala) c.3167T>C (p.Val1056Ala) c.3104T>C (p.Val1035Ala) | |
| 11 | g.47333562A>T | CA380314620 | MYBPC3 | c.3185T>A (p.Val1062Asp) c.3167T>A (p.Val1056Asp) c.3104T>A (p.Val1035Asp) | dbSNP |
| 11 | g.47333562_47333563delinsAC | CA1969335683 | MYBPC3 | c.3184_3185delinsGT (p.Val1062=) c.3166_3167delinsGT (p.Val1056=) c.3103_3104delinsGT (p.Val1035=) | |
| 11 | g.47333563C>A | CA380314625 | MYBPC3 | c.3184G>T (p.Val1062Phe) c.3166G>T (p.Val1056Phe) c.3103G>T (p.Val1035Phe) | |
| 11 | g.47333563C>G | CA380314627 | MYBPC3 | c.3184G>C (p.Val1062Leu) c.3166G>C (p.Val1056Leu) c.3103G>C (p.Val1035Leu) | |
| 11 | g.47333563C>T | CA053019 | MYBPC3 | c.3184G>A (p.Val1062Ile) c.3166G>A (p.Val1056Ile) c.3103G>A (p.Val1035Ile) | |
| 11 | g.47333564del | CA915948130 | MYBPC3 | c.3184del (p.Val1062LeufsTer13) c.3166del (p.Val1056LeufsTer13) c.3103del (p.Val1035LeufsTer13) | ClinVar dbSNP |
| 11 | g.47333563_47333567dup | CA2695213935 | MYBPC3 | c.3180_3184dup (p.Val1062GlyfsTer15) c.3162_3166dup (p.Val1056GlyfsTer15) c.3099_3103dup (p.Val1035GlyfsTer15) | |
| 11 | g.47333564C>A | CA380314628 | MYBPC3 | c.3183G>T (p.Gln1061His) c.3165G>T (p.Gln1055His) c.3102G>T (p.Gln1034His) | |
| 11 | g.47333564C>G | CA380314630 | MYBPC3 | c.3183G>C (p.Gln1061His) c.3165G>C (p.Gln1055His) c.3102G>C (p.Gln1034His) | |
| 11 | g.47333564C>T | CA474212265 | MYBPC3 | c.3183G>A (p.Gln1061=) c.3165G>A (p.Gln1055=) c.3102G>A (p.Gln1034=) | gnomAD v4 |
| 11 | g.47333565T>A | CA380314633 | MYBPC3 | c.3182A>T (p.Gln1061Leu) c.3164A>T (p.Gln1055Leu) c.3101A>T (p.Gln1034Leu) | |
| 11 | g.47333565T>C | CA380314635 | MYBPC3 | c.3182A>G (p.Gln1061Arg) c.3164A>G (p.Gln1055Arg) c.3101A>G (p.Gln1034Arg) | |
| 11 | g.47333565T>G | CA380314637 | MYBPC3 | c.3182A>C (p.Gln1061Pro) c.3164A>C (p.Gln1055Pro) c.3101A>C (p.Gln1034Pro) | |
| 11 | g.47333566G>A | CA013596 | MYBPC3 | c.3181C>T (p.Gln1061Ter) c.3163C>T (p.Gln1055Ter) c.3100C>T (p.Gln1034Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333566G>C | CA380314641 | MYBPC3 | c.3181C>G (p.Gln1061Glu) c.3163C>G (p.Gln1055Glu) c.3100C>G (p.Gln1034Glu) | |
| 11 | g.47333566G= | CA1969335689 | MYBPC3 | c.3181C= (p.Gln1061=) c.3163C= (p.Gln1055=) c.3100C= (p.Gln1034=) | |
| 11 | g.47333566G>T | CA380314643 | MYBPC3 | c.3181C>A (p.Gln1061Lys) c.3163C>A (p.Gln1055Lys) c.3100C>A (p.Gln1034Lys) | |
| 11 | g.47333567C>A | CA474212268 | MYBPC3 | c.3180G>T (p.Leu1060=) c.3162G>T (p.Leu1054=) c.3099G>T (p.Leu1033=) | dbSNP |
| 11 | g.47333567C= | CA1969335695 | MYBPC3 | c.3180G= (p.Leu1060=) c.3162G= (p.Leu1054=) c.3099G= (p.Leu1033=) | |
| 11 | g.47333567C>G | CA474212270 | MYBPC3 | c.3180G>C (p.Leu1060=) c.3162G>C (p.Leu1054=) c.3099G>C (p.Leu1033=) | |
| 11 | g.47333567C>T | CA474212271 | MYBPC3 | c.3180G>A (p.Leu1060=) c.3162G>A (p.Leu1054=) c.3099G>A (p.Leu1033=) | gnomAD v4 |
| 11 | g.47333567_47333568delinsCA | CA1969335696 | MYBPC3 | c.3179_3180delinsTG (p.Leu1060=) c.3161_3162delinsTG (p.Leu1054=) c.3098_3099delinsTG (p.Leu1033=) | |
| 11 | g.47333568del | CA599374322 | MYBPC3 | c.3179del (p.Leu1060ArgfsTer15) c.3161del (p.Leu1054ArgfsTer15) c.3098del (p.Leu1033ArgfsTer15) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333568A>C | CA380314646 | MYBPC3 | c.3179T>G (p.Leu1060Arg) c.3161T>G (p.Leu1054Arg) c.3098T>G (p.Leu1033Arg) | |
| 11 | g.47333568A>G | CA380314649 | MYBPC3 | c.3179T>C (p.Leu1060Pro) c.3161T>C (p.Leu1054Pro) c.3098T>C (p.Leu1033Pro) | |
| 11 | g.47333568A>T | CA380314651 | MYBPC3 | c.3179T>A (p.Leu1060Gln) c.3161T>A (p.Leu1054Gln) c.3098T>A (p.Leu1033Gln) | |
| 11 | g.47333569G>A | CA052852 | MYBPC3 | c.3178C>T (p.Leu1060=) c.3160C>T (p.Leu1054=) c.3097C>T (p.Leu1033=) | |
| 11 | g.47333569G>C | CA380314654 | MYBPC3 | c.3178C>G (p.Leu1060Val) c.3160C>G (p.Leu1054Val) c.3097C>G (p.Leu1033Val) | dbSNP gnomAD v4 |
| 11 | g.47333569G= | CA1969335704 | MYBPC3 | c.3178C= (p.Leu1060=) c.3160C= (p.Leu1054=) c.3097C= (p.Leu1033=) | |
| 11 | g.47333569G>T | CA380314656 | MYBPC3 | c.3178C>A (p.Leu1060Met) c.3160C>A (p.Leu1054Met) c.3097C>A (p.Leu1033Met) | |
| 11 | g.47333570C>A | CA474212273 | MYBPC3 | c.3177G>T (p.Val1059=) c.3159G>T (p.Val1053=) c.3096G>T (p.Val1032=) | |
| 11 | g.47333570C= | CA1969335708 | MYBPC3 | c.3177G= (p.Val1059=) c.3159G= (p.Val1053=) c.3096G= (p.Val1032=) | |
| 11 | g.47333570C>G | CA474212274 | MYBPC3 | c.3177G>C (p.Val1059=) c.3159G>C (p.Val1053=) c.3096G>C (p.Val1032=) | dbSNP |
| 11 | g.47333570C>T | CA474212275 | MYBPC3 | c.3177G>A (p.Val1059=) c.3159G>A (p.Val1053=) c.3096G>A (p.Val1032=) | |
| 11 | g.47333571A>C | CA380314659 | MYBPC3 | c.3176T>G (p.Val1059Gly) c.3158T>G (p.Val1053Gly) c.3095T>G (p.Val1032Gly) | |
| 11 | g.47333571A>G | CA380314660 | MYBPC3 | c.3176T>C (p.Val1059Ala) c.3158T>C (p.Val1053Ala) c.3095T>C (p.Val1032Ala) | |
| 11 | g.47333571A>T | CA380314663 | MYBPC3 | c.3176T>A (p.Val1059Glu) c.3158T>A (p.Val1053Glu) c.3095T>A (p.Val1032Glu) |