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.47332900_47332902del | CA014090 | MYBPC3 | c.3407_3409del (p.Tyr1136del) c.3389_3391del (p.Tyr1130del) c.3326_3328del (p.Tyr1109del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332900T>A | CA380313554 | MYBPC3 | c.3404A>T (p.Tyr1135Phe) c.3386A>T (p.Tyr1129Phe) c.3323A>T (p.Tyr1108Phe) | |
| 11 | g.47332900T>C | CA380313557 | MYBPC3 | c.3404A>G (p.Tyr1135Cys) c.3386A>G (p.Tyr1129Cys) c.3323A>G (p.Tyr1108Cys) | |
| 11 | g.47332900T>G | CA380313559 | MYBPC3 | c.3404A>C (p.Tyr1135Ser) c.3386A>C (p.Tyr1129Ser) c.3323A>C (p.Tyr1108Ser) | |
| 11 | g.47332901A>C | CA380313564 | MYBPC3 | c.3403T>G (p.Tyr1135Asp) c.3385T>G (p.Tyr1129Asp) c.3322T>G (p.Tyr1108Asp) | |
| 11 | g.47332901A>G | CA380313567 | MYBPC3 | c.3403T>C (p.Tyr1135His) c.3385T>C (p.Tyr1129His) c.3322T>C (p.Tyr1108His) | |
| 11 | g.47332901A>T | CA380313569 | MYBPC3 | c.3403T>A (p.Tyr1135Asn) c.3385T>A (p.Tyr1129Asn) c.3322T>A (p.Tyr1108Asn) | |
| 11 | g.47332902del | CA2580084218 | MYBPC3 | c.3402del (p.Tyr1135ThrfsTer?) c.3384del (p.Tyr1129ThrfsTer?) c.3321del (p.Tyr1108ThrfsTer?) | ClinVar |
| 11 | g.47332902G>A | CA474429045 | MYBPC3 | c.3402C>T (p.Gly1134=) c.3384C>T (p.Gly1128=) c.3321C>T (p.Gly1107=) | |
| 11 | g.47332902G>C | CA474429046 | MYBPC3 | c.3402C>G (p.Gly1134=) c.3384C>G (p.Gly1128=) c.3321C>G (p.Gly1107=) | ClinVar dbSNP |
| 11 | g.47332902G= | CA1969334696 | MYBPC3 | c.3402C= (p.Gly1134=) c.3384C= (p.Gly1128=) c.3321C= (p.Gly1107=) | |
| 11 | g.47332902G>T | CA474429047 | MYBPC3 | c.3402C>A (p.Gly1134=) c.3384C>A (p.Gly1128=) c.3321C>A (p.Gly1107=) | gnomAD v4 |
| 11 | g.47332903C>A | CA380313571 | MYBPC3 | c.3401G>T (p.Gly1134Val) c.3383G>T (p.Gly1128Val) c.3320G>T (p.Gly1107Val) | |
| 11 | g.47332903C= | CA1969334698 | MYBPC3 | c.3401G= (p.Gly1134=) c.3383G= (p.Gly1128=) c.3320G= (p.Gly1107=) | |
| 11 | g.47332903C>G | CA380313575 | MYBPC3 | c.3401G>C (p.Gly1134Ala) c.3383G>C (p.Gly1128Ala) c.3320G>C (p.Gly1107Ala) | |
| 11 | g.47332903C>T | CA221682263 | MYBPC3 | c.3401G>A (p.Gly1134Asp) c.3383G>A (p.Gly1128Asp) c.3320G>A (p.Gly1107Asp) | dbSNP gnomAD v4 COSMIC |
| 11 | g.47332904C>A | CA380313586 | MYBPC3 | c.3400G>T (p.Gly1134Cys) c.3382G>T (p.Gly1128Cys) c.3319G>T (p.Gly1107Cys) | |
| 11 | g.47332904C>G | CA380313583 | MYBPC3 | c.3400G>C (p.Gly1134Arg) c.3382G>C (p.Gly1128Arg) c.3319G>C (p.Gly1107Arg) | |
| 11 | g.47332904C>T | CA380313580 | MYBPC3 | c.3400G>A (p.Gly1134Ser) c.3382G>A (p.Gly1128Ser) c.3319G>A (p.Gly1107Ser) | gnomAD v4 |
| 11 | g.47332905A= | CA1969334699 | MYBPC3 | c.3399T= (p.Asn1133=) c.3381T= (p.Asn1127=) c.3318T= (p.Asn1106=) | |
| 11 | g.47332905A>C | CA380313589 | MYBPC3 | c.3399T>G (p.Asn1133Lys) c.3381T>G (p.Asn1127Lys) c.3318T>G (p.Asn1106Lys) | |
| 11 | g.47332905A>G | CA474429048 | MYBPC3 | c.3399T>C (p.Asn1133=) c.3381T>C (p.Asn1127=) c.3318T>C (p.Asn1106=) | dbSNP gnomAD v4 |
| 11 | g.47332905A>T | CA380313593 | MYBPC3 | c.3399T>A (p.Asn1133Lys) c.3381T>A (p.Asn1127Lys) c.3318T>A (p.Asn1106Lys) | gnomAD v4 |
| 11 | g.47332906T>A | CA380313596 | MYBPC3 | c.3398A>T (p.Asn1133Ile) c.3380A>T (p.Asn1127Ile) c.3317A>T (p.Asn1106Ile) | |
| 11 | g.47332906T>C | CA221682267 | MYBPC3 | c.3398A>G (p.Asn1133Ser) c.3380A>G (p.Asn1127Ser) c.3317A>G (p.Asn1106Ser) | dbSNP gnomAD v2 |
| 11 | g.47332906T>G | CA380313600 | MYBPC3 | c.3398A>C (p.Asn1133Thr) c.3380A>C (p.Asn1127Thr) c.3317A>C (p.Asn1106Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47332906T= | CA1969334700 | MYBPC3 | c.3398A= (p.Asn1133=) c.3380A= (p.Asn1127=) c.3317A= (p.Asn1106=) | |
| 11 | g.47332907T>A | CA380313605 | MYBPC3 | c.3397A>T (p.Asn1133Tyr) c.3379A>T (p.Asn1127Tyr) c.3316A>T (p.Asn1106Tyr) | |
| 11 | g.47332907T>C | CA380313608 | MYBPC3 | c.3397A>G (p.Asn1133Asp) c.3379A>G (p.Asn1127Asp) c.3316A>G (p.Asn1106Asp) | |
| 11 | g.47332907T>G | CA380313611 | MYBPC3 | c.3397A>C (p.Asn1133His) c.3379A>C (p.Asn1127His) c.3316A>C (p.Asn1106His) | |
| 11 | g.47332908G>A | CA079350 | MYBPC3 | c.3396C>T (p.Gly1132=) c.3378C>T (p.Gly1126=) c.3315C>T (p.Gly1105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47332908G>C | CA474429049 | MYBPC3 | c.3396C>G (p.Gly1132=) c.3378C>G (p.Gly1126=) c.3315C>G (p.Gly1105=) | |
| 11 | g.47332908G= | CA1969334702 | MYBPC3 | c.3396C= (p.Gly1132=) c.3378C= (p.Gly1126=) c.3315C= (p.Gly1105=) | |
| 11 | g.47332908G>T | CA474429050 | MYBPC3 | c.3396C>A (p.Gly1132=) c.3378C>A (p.Gly1126=) c.3315C>A (p.Gly1105=) | gnomAD v4 |
| 11 | g.47332909C>A | CA380313618 | MYBPC3 | c.3395G>T (p.Gly1132Val) c.3377G>T (p.Gly1126Val) c.3314G>T (p.Gly1105Val) | |
| 11 | g.47332909C>G | CA380313620 | MYBPC3 | c.3395G>C (p.Gly1132Ala) c.3377G>C (p.Gly1126Ala) c.3314G>C (p.Gly1105Ala) | |
| 11 | g.47332909C>T | CA380313623 | MYBPC3 | c.3395G>A (p.Gly1132Asp) c.3377G>A (p.Gly1126Asp) c.3314G>A (p.Gly1105Asp) | COSMIC COSMIC |
| 11 | g.47332910C>A | CA380313632 | MYBPC3 | c.3394G>T (p.Gly1132Cys) c.3376G>T (p.Gly1126Cys) c.3313G>T (p.Gly1105Cys) | |
| 11 | g.47332910C>G | CA380313629 | MYBPC3 | c.3394G>C (p.Gly1132Arg) c.3376G>C (p.Gly1126Arg) c.3313G>C (p.Gly1105Arg) | |
| 11 | g.47332910C>T | CA380313626 | MYBPC3 | c.3394G>A (p.Gly1132Ser) c.3376G>A (p.Gly1126Ser) c.3313G>A (p.Gly1105Ser) | |
| 11 | g.47332911A>C | CA380313634 | MYBPC3 | c.3393T>G (p.Ile1131Met) c.3375T>G (p.Ile1125Met) c.3312T>G (p.Ile1104Met) | |
| 11 | g.47332911A>G | CA474429051 | MYBPC3 | c.3393T>C (p.Ile1131=) c.3375T>C (p.Ile1125=) c.3312T>C (p.Ile1104=) | |
| 11 | g.47332911A>T | CA474429052 | MYBPC3 | c.3393T>A (p.Ile1131=) c.3375T>A (p.Ile1125=) c.3312T>A (p.Ile1104=) | |
| 11 | g.47332912A= | CA1969334704 | MYBPC3 | c.3392T= (p.Ile1131=) c.3374T= (p.Ile1125=) c.3311T= (p.Ile1104=) | |
| 11 | g.47332912A>C | CA380313645 | MYBPC3 | c.3392T>G (p.Ile1131Ser) c.3374T>G (p.Ile1125Ser) c.3311T>G (p.Ile1104Ser) | |
| 11 | g.47332912A>G | CA014070 | MYBPC3 | c.3392T>C (p.Ile1131Thr) c.3374T>C (p.Ile1125Thr) c.3311T>C (p.Ile1104Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |