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 |
|---|---|---|---|---|---|
| 5 | g.150129864A= | CA1590805656 | PDGFRB | c.1472T= (p.Val491=) c.*786T= (n.*786T=) c.1280T= (p.Val427=) c.989T= (p.Val330=) | |
| 5 | g.150129864A>C | CA361714868 | PDGFRB | c.1472T>G (p.Val491Gly) c.*786T>G (n.*786T>G) c.1280T>G (p.Val427Gly) c.989T>G (p.Val330Gly) | |
| 5 | g.150129864A>G | CA3507970 | PDGFRB | c.1472T>C (p.Val491Ala) c.*786T>C (n.*786T>C) c.1280T>C (p.Val427Ala) c.989T>C (p.Val330Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129864A>T | CA361714869 | PDGFRB | c.1472T>A (p.Val491Glu) c.*786T>A (n.*786T>A) c.1280T>A (p.Val427Glu) c.989T>A (p.Val330Glu) | |
| 5 | g.150129865C>A | CA361714870 | PDGFRB | c.1471G>T (p.Val491Leu) c.*785G>T (n.*785G>T) c.1279G>T (p.Val427Leu) c.988G>T (p.Val330Leu) | |
| 5 | g.150129865C>G | CA361714872 | PDGFRB | c.1471G>C (p.Val491Leu) c.*785G>C (n.*785G>C) c.1279G>C (p.Val427Leu) c.988G>C (p.Val330Leu) | |
| 5 | g.150129865C>T | CA361714871 | PDGFRB | c.1471G>A (p.Val491Met) c.*785G>A (n.*785G>A) c.1279G>A (p.Val427Met) c.988G>A (p.Val330Met) | |
| 5 | g.150129866C>A | CA361714873 | PDGFRB | c.1470G>T (p.Glu490Asp) c.*784G>T (n.*784G>T) c.1278G>T (p.Glu426Asp) c.987G>T (p.Glu329Asp) | |
| 5 | g.150129866C>G | CA361714874 | PDGFRB | c.1470G>C (p.Glu490Asp) c.*784G>C (n.*784G>C) c.1278G>C (p.Glu426Asp) c.987G>C (p.Glu329Asp) | |
| 5 | g.150129866C>T | CA447144821 | PDGFRB | c.1470G>A (p.Glu490=) c.*784G>A (n.*784G>A) c.1278G>A (p.Glu426=) c.987G>A (p.Glu329=) | dbSNP |
| 5 | g.150129867T>A | CA361714875 | PDGFRB | c.1469A>T (p.Glu490Val) c.*783A>T (n.*783A>T) c.1277A>T (p.Glu426Val) c.986A>T (p.Glu329Val) | |
| 5 | g.150129867T>C | CA361714876 | PDGFRB | c.1469A>G (p.Glu490Gly) c.*783A>G (n.*783A>G) c.1277A>G (p.Glu426Gly) c.986A>G (p.Glu329Gly) | |
| 5 | g.150129867T>G | CA361714877 | PDGFRB | c.1469A>C (p.Glu490Ala) c.*783A>C (n.*783A>C) c.1277A>C (p.Glu426Ala) c.986A>C (p.Glu329Ala) | |
| 5 | g.150129868C>A | CA361714878 | PDGFRB | c.1468G>T (p.Glu490Ter) c.*782G>T (n.*782G>T) c.1276G>T (p.Glu426Ter) c.985G>T (p.Glu329Ter) | |
| 5 | g.150129868C>G | CA361714879 | PDGFRB | c.1468G>C (p.Glu490Gln) c.*782G>C (n.*782G>C) c.1276G>C (p.Glu426Gln) c.985G>C (p.Glu329Gln) | gnomAD v4 |
| 5 | g.150129868C>T | CA361714880 | PDGFRB | c.1468G>A (p.Glu490Lys) c.*782G>A (n.*782G>A) c.1276G>A (p.Glu426Lys) c.985G>A (p.Glu329Lys) | |
| 5 | g.150129869A>C | CA361714881 | PDGFRB | c.1467T>G (p.Phe489Leu) c.*781T>G (n.*781T>G) c.1275T>G (p.Phe425Leu) c.984T>G (p.Phe328Leu) | |
| 5 | g.150129869A>G | CA447144826 | PDGFRB | c.1467T>C (p.Phe489=) c.*781T>C (n.*781T>C) c.1275T>C (p.Phe425=) c.984T>C (p.Phe328=) | |
| 5 | g.150129869A>T | CA361714882 | PDGFRB | c.1467T>A (p.Phe489Leu) c.*781T>A (n.*781T>A) c.1275T>A (p.Phe425Leu) c.984T>A (p.Phe328Leu) | |
| 5 | g.150129870A>C | CA361714885 | PDGFRB | c.1466T>G (p.Phe489Cys) c.*780T>G (n.*780T>G) c.1274T>G (p.Phe425Cys) c.983T>G (p.Phe328Cys) | |
| 5 | g.150129870A>G | CA361714884 | PDGFRB | c.1466T>C (p.Phe489Ser) c.*780T>C (n.*780T>C) c.1274T>C (p.Phe425Ser) c.983T>C (p.Phe328Ser) | gnomAD v4 |
| 5 | g.150129870A>T | CA361714883 | PDGFRB | c.1466T>A (p.Phe489Tyr) c.*780T>A (n.*780T>A) c.1274T>A (p.Phe425Tyr) c.983T>A (p.Phe328Tyr) | |
| 5 | g.150129871A>C | CA361714886 | PDGFRB | c.1465T>G (p.Phe489Val) c.*779T>G (n.*779T>G) c.1273T>G (p.Phe425Val) c.982T>G (p.Phe328Val) | gnomAD v3 gnomAD v4 |
| 5 | g.150129871A>G | CA361714888 | PDGFRB | c.1465T>C (p.Phe489Leu) c.*779T>C (n.*779T>C) c.1273T>C (p.Phe425Leu) c.982T>C (p.Phe328Leu) | |
| 5 | g.150129871A>T | CA361714887 | PDGFRB | c.1465T>A (p.Phe489Ile) c.*779T>A (n.*779T>A) c.1273T>A (p.Phe425Ile) c.982T>A (p.Phe328Ile) | |
| 5 | g.150129872C>A | CA361714889 | PDGFRB | c.1464G>T (p.Glu488Asp) c.*778G>T (n.*778G>T) c.1272G>T (p.Glu424Asp) c.981G>T (p.Glu327Asp) | |
| 5 | g.150129872C= | CA1590805657 | PDGFRB | c.1464G= (p.Glu488=) c.*778G= (n.*778G=) c.1272G= (p.Glu424=) c.981G= (p.Glu327=) | |
| 5 | g.150129872C>G | CA361714890 | PDGFRB | c.1464G>C (p.Glu488Asp) c.*778G>C (n.*778G>C) c.1272G>C (p.Glu424Asp) c.981G>C (p.Glu327Asp) | |
| 5 | g.150129872C>T | CA129065576 | PDGFRB | c.1464G>A (p.Glu488=) c.*778G>A (n.*778G>A) c.1272G>A (p.Glu424=) c.981G>A (p.Glu327=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.150129873T>A | CA361714891 | PDGFRB | c.1463A>T (p.Glu488Val) c.*777A>T (n.*777A>T) c.1271A>T (p.Glu424Val) c.980A>T (p.Glu327Val) | |
| 5 | g.150129873T>C | CA361714892 | PDGFRB | c.1463A>G (p.Glu488Gly) c.*777A>G (n.*777A>G) c.1271A>G (p.Glu424Gly) c.980A>G (p.Glu327Gly) | |
| 5 | g.150129873T>G | CA361714893 | PDGFRB | c.1463A>C (p.Glu488Ala) c.*777A>C (n.*777A>C) c.1271A>C (p.Glu424Ala) c.980A>C (p.Glu327Ala) | |
| 5 | g.150129874C>A | CA361714894 | PDGFRB | c.1462G>T (p.Glu488Ter) c.*776G>T (n.*776G>T) c.1270G>T (p.Glu424Ter) c.979G>T (p.Glu327Ter) | |
| 5 | g.150129874C= | CA1590805658 | PDGFRB | c.1462G= (p.Glu488=) c.*776G= (n.*776G=) c.1270G= (p.Glu424=) c.979G= (p.Glu327=) | |
| 5 | g.150129874C>G | CA361714895 | PDGFRB | c.1462G>C (p.Glu488Gln) c.*776G>C (n.*776G>C) c.1270G>C (p.Glu424Gln) c.979G>C (p.Glu327Gln) | |
| 5 | g.150129874C>T | CA3507971 | PDGFRB | c.1462G>A (p.Glu488Lys) c.*776G>A (n.*776G>A) c.1270G>A (p.Glu424Lys) c.979G>A (p.Glu327Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150129875C>A | CA361714896 | PDGFRB | c.1461G>T (p.Gln487His) c.*775G>T (n.*775G>T) c.1269G>T (p.Gln423His) c.978G>T (p.Gln326His) | |
| 5 | g.150129875C>G | CA361714897 | PDGFRB | c.1461G>C (p.Gln487His) c.*775G>C (n.*775G>C) c.1269G>C (p.Gln423His) c.978G>C (p.Gln326His) | |
| 5 | g.150129875C>T | CA447144830 | PDGFRB | c.1461G>A (p.Gln487=) c.*775G>A (n.*775G>A) c.1269G>A (p.Gln423=) c.978G>A (p.Gln326=) | COSMIC |
| 5 | g.150129876T>A | CA361714898 | PDGFRB | c.1460A>T (p.Gln487Leu) c.*774A>T (n.*774A>T) c.1268A>T (p.Gln423Leu) c.977A>T (p.Gln326Leu) | dbSNP |
| 5 | g.150129876T>C | CA361714899 | PDGFRB | c.1460A>G (p.Gln487Arg) c.*774A>G (n.*774A>G) c.1268A>G (p.Gln423Arg) c.977A>G (p.Gln326Arg) | |
| 5 | g.150129876T>G | CA361714900 | PDGFRB | c.1460A>C (p.Gln487Pro) c.*774A>C (n.*774A>C) c.1268A>C (p.Gln423Pro) c.977A>C (p.Gln326Pro) | |
| 5 | g.150129877G>A | CA361714903 | PDGFRB | c.1459C>T (p.Gln487Ter) c.*773C>T (n.*773C>T) c.1267C>T (p.Gln423Ter) c.976C>T (p.Gln326Ter) | dbSNP |
| 5 | g.150129877G>C | CA361714901 | PDGFRB | c.1459C>G (p.Gln487Glu) c.*773C>G (n.*773C>G) c.1267C>G (p.Gln423Glu) c.976C>G (p.Gln326Glu) | |
| 5 | g.150129877G= | CA1590805659 | PDGFRB | c.1459C= (p.Gln487=) c.*773C= (n.*773C=) c.1267C= (p.Gln423=) c.976C= (p.Gln326=) | |
| 5 | g.150129877G>T | CA361714902 | PDGFRB | c.1459C>A (p.Gln487Lys) c.*773C>A (n.*773C>A) c.1267C>A (p.Gln423Lys) c.976C>A (p.Gln326Lys) | |
| 5 | g.150129877_150129880delinsGCTC | CA1590805660 | PDGFRB | c.1456_1459delinsGAGC (p.Glu486=) c.*770_*773delinsGAGC (n.*770_*773delinsGAGC) c.1264_1267delinsGAGC (p.Glu422=) c.973_976delinsGAGC (p.Glu325=) | |
| 5 | g.150129878C>A | CA361714904 | PDGFRB | c.1458G>T (p.Glu486Asp) c.*772G>T (n.*772G>T) c.1266G>T (p.Glu422Asp) c.975G>T (p.Glu325Asp) | |
| 5 | g.150129878C= | CA1590805662 | PDGFRB | c.1458G= (p.Glu486=) c.*772G= (n.*772G=) c.1266G= (p.Glu422=) c.975G= (p.Glu325=) | |
| 5 | g.150129878C>G | CA3507972 | PDGFRB | c.1458G>C (p.Glu486Asp) c.*772G>C (n.*772G>C) c.1266G>C (p.Glu422Asp) c.975G>C (p.Glu325Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |