WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.43338607_43338614dup | CA2740090652 | MPL | c.278_285dup (p.Pro96AlafsTer19) c.257_264dup (p.Pro89AlafsTer19) n.278_285dup c.449_456dup (p.Pro153AlafsTer19) | ClinVar |
| 1 | g.43338607del | CA2573049019 | MPL | c.278del (p.Cys93SerfsTer19) c.257del (p.Cys86SerfsTer19) n.278del c.449del (p.Cys150SerfsTer19) | |
| 1 | g.43338607G>A | CA339973458 | MPL | c.278G>A (p.Cys93Tyr) c.257G>A (p.Cys86Tyr) n.278G>A c.449G>A (p.Cys150Tyr) | dbSNP |
| 1 | g.43338607G>C | CA339973459 | MPL | c.278G>C (p.Cys93Ser) c.257G>C (p.Cys86Ser) n.278G>C c.449G>C (p.Cys150Ser) | |
| 1 | g.43338607G>T | CA339973460 | MPL | c.278G>T (p.Cys93Phe) c.257G>T (p.Cys86Phe) n.278G>T c.449G>T (p.Cys150Phe) | |
| 1 | g.43338608C>A | CA339973463 | MPL | c.279C>A (p.Cys93Ter) c.258C>A (p.Cys86Ter) n.279C>A c.450C>A (p.Cys150Ter) | |
| 1 | g.43338608C>G | CA339973464 | MPL | c.279C>G (p.Cys93Trp) c.258C>G (p.Cys86Trp) n.279C>G c.450C>G (p.Cys150Trp) | |
| 1 | g.43338608C>T | CA417417379 | MPL | c.279C>T (p.Cys93=) c.258C>T (p.Cys86=) n.279C>T c.450C>T (p.Cys150=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.43338609C>A | CA339973466 | MPL | c.280C>A (p.Gln94Lys) c.259C>A (p.Gln87Lys) n.280C>A c.451C>A (p.Gln151Lys) | |
| 1 | g.43338609C= | CA1165576069 | MPL | c.280C= (p.Gln94=) c.259C= (p.Gln87=) n.280C= c.451C= (p.Gln151=) | |
| 1 | g.43338609C>G | CA339973468 | MPL | c.280C>G (p.Gln94Glu) c.259C>G (p.Gln87Glu) n.280C>G c.451C>G (p.Gln151Glu) | |
| 1 | g.43338609C>T | CA339973470 | MPL | c.280C>T (p.Gln94Ter) c.259C>T (p.Gln87Ter) n.280C>T c.451C>T (p.Gln151Ter) | ClinVar dbSNP |
| 1 | g.43338610A>C | CA339973472 | MPL | c.281A>C (p.Gln94Pro) c.260A>C (p.Gln87Pro) n.281A>C c.452A>C (p.Gln151Pro) | |
| 1 | g.43338610A>G | CA339973474 | MPL | c.281A>G (p.Gln94Arg) c.260A>G (p.Gln87Arg) n.281A>G c.452A>G (p.Gln151Arg) | |
| 1 | g.43338610A>T | CA339973476 | MPL | c.281A>T (p.Gln94Leu) c.260A>T (p.Gln87Leu) n.281A>T c.452A>T (p.Gln151Leu) | |
| 1 | g.43338611G>A | CA417417381 | MPL | c.282G>A (p.Gln94=) c.261G>A (p.Gln87=) n.282G>A c.453G>A (p.Gln151=) | dbSNP |
| 1 | g.43338611G>C | CA339973478 | MPL | c.282G>C (p.Gln94His) c.261G>C (p.Gln87His) n.282G>C c.453G>C (p.Gln151His) | |
| 1 | g.43338611G>T | CA339973480 | MPL | c.282G>T (p.Gln94His) c.261G>T (p.Gln87His) n.282G>T c.453G>T (p.Gln151His) | dbSNP |
| 1 | g.43338612T>A | CA339973482 | MPL | c.283T>A (p.Phe95Ile) c.262T>A (p.Phe88Ile) n.283T>A c.454T>A (p.Phe152Ile) | |
| 1 | g.43338612T>C | CA806629 | MPL | c.283T>C (p.Phe95Leu) c.262T>C (p.Phe88Leu) n.283T>C c.454T>C (p.Phe152Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43338612T>G | CA339973485 | MPL | c.283T>G (p.Phe95Val) c.262T>G (p.Phe88Val) n.283T>G c.454T>G (p.Phe152Val) | |
| 1 | g.43338612T= | CA1165576070 | MPL | c.283T= (p.Phe95=) c.262T= (p.Phe88=) n.283T= c.454T= (p.Phe152=) | |
| 1 | g.43338613T>A | CA339973487 | MPL | c.284T>A (p.Phe95Tyr) c.263T>A (p.Phe88Tyr) n.284T>A c.455T>A (p.Phe152Tyr) | |
| 1 | g.43338613T>C | CA339973489 | MPL | c.284T>C (p.Phe95Ser) c.263T>C (p.Phe88Ser) n.284T>C c.455T>C (p.Phe152Ser) | |
| 1 | g.43338613T>G | CA339973491 | MPL | c.284T>G (p.Phe95Cys) c.263T>G (p.Phe88Cys) n.284T>G c.455T>G (p.Phe152Cys) | |
| 1 | g.43338614T>A | CA339973493 | MPL | c.285T>A (p.Phe95Leu) c.264T>A (p.Phe88Leu) n.285T>A c.456T>A (p.Phe152Leu) | |
| 1 | g.43338614T>C | CA417417392 | MPL | c.285T>C (p.Phe95=) c.264T>C (p.Phe88=) n.285T>C c.456T>C (p.Phe152=) | |
| 1 | g.43338614T>G | CA339973495 | MPL | c.285T>G (p.Phe95Leu) c.264T>G (p.Phe88Leu) n.285T>G c.456T>G (p.Phe152Leu) | gnomAD v4 |
| 1 | g.43338615C>A | CA339973497 | MPL | c.286C>A (p.Pro96Thr) c.265C>A (p.Pro89Thr) n.286C>A c.457C>A (p.Pro153Thr) | |
| 1 | g.43338615C= | CA1165576071 | MPL | c.286C= (p.Pro96=) c.265C= (p.Pro89=) n.286C= c.457C= (p.Pro153=) | |
| 1 | g.43338615C>G | CA339973498 | MPL | c.286C>G (p.Pro96Ala) c.265C>G (p.Pro89Ala) n.286C>G c.457C>G (p.Pro153Ala) | |
| 1 | g.43338615C>T | CA339973500 | MPL | c.286C>T (p.Pro96Ser) c.265C>T (p.Pro89Ser) n.286C>T c.457C>T (p.Pro153Ser) | dbSNP gnomAD v4 |
| 1 | g.43338615_43338616insTTCT | CA2695806192 | MPL | c.286_287insTTCT (p.Pro96LeufsTer?) c.265_266insTTCT (p.Pro89LeufsTer?) n.286_287insTTCT c.457_458insTTCT (p.Pro153LeufsTer?) | dbSNP |
| 1 | g.43338616C>A | CA339973505 | MPL | c.287C>A (p.Pro96Gln) c.266C>A (p.Pro89Gln) n.287C>A c.458C>A (p.Pro153Gln) | |
| 1 | g.43338616C>G | CA339973504 | MPL | c.287C>G (p.Pro96Arg) c.266C>G (p.Pro89Arg) n.287C>G c.458C>G (p.Pro153Arg) | |
| 1 | g.43338616C>T | CA339973503 | MPL | c.287C>T (p.Pro96Leu) c.266C>T (p.Pro89Leu) n.287C>T c.458C>T (p.Pro153Leu) | |
| 1 | g.43338617A>C | CA417417394 | MPL | c.288A>C (p.Pro96=) c.267A>C (p.Pro89=) n.288A>C c.459A>C (p.Pro153=) | |
| 1 | g.43338617A>G | CA417417395 | MPL | c.288A>G (p.Pro96=) c.267A>G (p.Pro89=) n.288A>G c.459A>G (p.Pro153=) | |
| 1 | g.43338617A>T | CA417417397 | MPL | c.288A>T (p.Pro96=) c.267A>T (p.Pro89=) n.288A>T c.459A>T (p.Pro153=) | |
| 1 | g.43338617_43338618insCTGCCTGGGATAGGTGG | CA2695806195 | MPL | c.288_289insCTGCCTGGGATAGGTGG (p.Asp97LeufsTer21) c.267_268insCTGCCTGGGATAGGTGG (p.Asp90LeufsTer21) n.288_289insCTGCCTGGGATAGGTGG c.459_460insCTGCCTGGGATAGGTGG (p.Asp154LeufsTer21) | dbSNP |
| 1 | g.43338618G>A | CA339973508 | MPL | c.289G>A (p.Asp97Asn) c.268G>A (p.Asp90Asn) n.289G>A c.460G>A (p.Asp154Asn) | |
| 1 | g.43338618G>C | CA339973511 | MPL | c.289G>C (p.Asp97His) c.268G>C (p.Asp90His) n.289G>C c.460G>C (p.Asp154His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43338618G= | CA1165576072 | MPL | c.289G= (p.Asp97=) c.268G= (p.Asp90=) n.289G= c.460G= (p.Asp154=) | |
| 1 | g.43338618G>T | CA339973510 | MPL | c.289G>T (p.Asp97Tyr) c.268G>T (p.Asp90Tyr) n.289G>T c.460G>T (p.Asp154Tyr) | COSMIC |
| 1 | g.43338619A>C | CA339973514 | MPL | c.290A>C (p.Asp97Ala) c.269A>C (p.Asp90Ala) n.290A>C c.461A>C (p.Asp154Ala) | |
| 1 | g.43338619A>G | CA339973516 | MPL | c.290A>G (p.Asp97Gly) c.269A>G (p.Asp90Gly) n.290A>G c.461A>G (p.Asp154Gly) | gnomAD v4 |
| 1 | g.43338619A>T | CA339973518 | MPL | c.290A>T (p.Asp97Val) c.269A>T (p.Asp90Val) n.290A>T c.461A>T (p.Asp154Val) | |
| 1 | g.43338620C>A | CA339973520 | MPL | c.291C>A (p.Asp97Glu) c.270C>A (p.Asp90Glu) n.291C>A c.462C>A (p.Asp154Glu) | dbSNP |
| 1 | g.43338620C>G | CA339973521 | MPL | c.291C>G (p.Asp97Glu) c.270C>G (p.Asp90Glu) n.291C>G c.462C>G (p.Asp154Glu) | |
| 1 | g.43338620C>T | CA417417403 | MPL | c.291C>T (p.Asp97=) c.270C>T (p.Asp90=) n.291C>T c.462C>T (p.Asp154=) |