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.150129764C>A | CA447144619 | PDGFRB | c.1572G>T (p.Val524=) c.*886G>T (n.*886G>T) c.1380G>T (p.Val460=) c.1089G>T (p.Val363=) | |
| 5 | g.150129764C= | CA1590805608 | PDGFRB | c.1572G= (p.Val524=) c.*886G= (n.*886G=) c.1380G= (p.Val460=) c.1089G= (p.Val363=) | |
| 5 | g.150129764C>G | CA447144620 | PDGFRB | c.1572G>C (p.Val524=) c.*886G>C (n.*886G>C) c.1380G>C (p.Val460=) c.1089G>C (p.Val363=) | |
| 5 | g.150129764C>T | CA3507938 | PDGFRB | c.1572G>A (p.Val524=) c.*886G>A (n.*886G>A) c.1380G>A (p.Val460=) c.1089G>A (p.Val363=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129765A= | CA1590805609 | PDGFRB | c.1571T= (p.Val524=) c.*885T= (n.*885T=) c.1379T= (p.Val460=) c.1088T= (p.Val363=) | |
| 5 | g.150129765A>C | CA361714475 | PDGFRB | c.1571T>G (p.Val524Gly) c.*885T>G (n.*885T>G) c.1379T>G (p.Val460Gly) c.1088T>G (p.Val363Gly) | dbSNP |
| 5 | g.150129765A>G | CA361714478 | PDGFRB | c.1571T>C (p.Val524Ala) c.*885T>C (n.*885T>C) c.1379T>C (p.Val460Ala) c.1088T>C (p.Val363Ala) | |
| 5 | g.150129765A>T | CA361714480 | PDGFRB | c.1571T>A (p.Val524Glu) c.*885T>A (n.*885T>A) c.1379T>A (p.Val460Glu) c.1088T>A (p.Val363Glu) | |
| 5 | g.150129766C>A | CA361714483 | PDGFRB | c.1570G>T (p.Val524Leu) c.*884G>T (n.*884G>T) c.1378G>T (p.Val460Leu) c.1087G>T (p.Val363Leu) | |
| 5 | g.150129766C>G | CA361714486 | PDGFRB | c.1570G>C (p.Val524Leu) c.*884G>C (n.*884G>C) c.1378G>C (p.Val460Leu) c.1087G>C (p.Val363Leu) | |
| 5 | g.150129766C>T | CA361714489 | PDGFRB | c.1570G>A (p.Val524Met) c.*884G>A (n.*884G>A) c.1378G>A (p.Val460Met) c.1087G>A (p.Val363Met) | |
| 5 | g.150129767C>A | CA447144625 | PDGFRB | c.1569G>T (p.Val523=) c.*883G>T (n.*883G>T) c.1377G>T (p.Val459=) c.1086G>T (p.Val362=) | |
| 5 | g.150129767C>G | CA447144627 | PDGFRB | c.1569G>C (p.Val523=) c.*883G>C (n.*883G>C) c.1377G>C (p.Val459=) c.1086G>C (p.Val362=) | |
| 5 | g.150129767C>T | CA447144628 | PDGFRB | c.1569G>A (p.Val523=) c.*883G>A (n.*883G>A) c.1377G>A (p.Val459=) c.1086G>A (p.Val362=) | gnomAD v4 |
| 5 | g.150129768A>C | CA361714492 | PDGFRB | c.1568T>G (p.Val523Gly) c.*882T>G (n.*882T>G) c.1376T>G (p.Val459Gly) c.1085T>G (p.Val362Gly) | |
| 5 | g.150129768A>G | CA361714496 | PDGFRB | c.1568T>C (p.Val523Ala) c.*882T>C (n.*882T>C) c.1376T>C (p.Val459Ala) c.1085T>C (p.Val362Ala) | |
| 5 | g.150129768A>T | CA361714498 | PDGFRB | c.1568T>A (p.Val523Glu) c.*882T>A (n.*882T>A) c.1376T>A (p.Val459Glu) c.1085T>A (p.Val362Glu) | |
| 5 | g.150129769C>A | CA361714503 | PDGFRB | c.1567G>T (p.Val523Leu) c.*881G>T (n.*881G>T) c.1375G>T (p.Val459Leu) c.1084G>T (p.Val362Leu) | |
| 5 | g.150129769C= | CA1590805610 | PDGFRB | c.1567G= (p.Val523=) c.*881G= (n.*881G=) c.1375G= (p.Val459=) c.1084G= (p.Val362=) | |
| 5 | g.150129769C>G | CA361714502 | PDGFRB | c.1567G>C (p.Val523Leu) c.*881G>C (n.*881G>C) c.1375G>C (p.Val459Leu) c.1084G>C (p.Val362Leu) | |
| 5 | g.150129769C>T | CA3507939 | PDGFRB | c.1567G>A (p.Val523Met) c.*881G>A (n.*881G>A) c.1375G>A (p.Val459Met) c.1084G>A (p.Val362Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129770G>A | CA3507940 | PDGFRB | c.1566C>T (p.Ile522=) c.*880C>T (n.*880C>T) c.1374C>T (p.Ile458=) c.1083C>T (p.Ile361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150129770G>C | CA361714504 | PDGFRB | c.1566C>G (p.Ile522Met) c.*880C>G (n.*880C>G) c.1374C>G (p.Ile458Met) c.1083C>G (p.Ile361Met) | dbSNP |
| 5 | g.150129770G= | CA1590805611 | PDGFRB | c.1566C= (p.Ile522=) c.*880C= (n.*880C=) c.1374C= (p.Ile458=) c.1083C= (p.Ile361=) | |
| 5 | g.150129770G>T | CA447144637 | PDGFRB | c.1566C>A (p.Ile522=) c.*880C>A (n.*880C>A) c.1374C>A (p.Ile458=) c.1083C>A (p.Ile361=) | gnomAD v4 |
| 5 | g.150129771A>C | CA361714505 | PDGFRB | c.1565T>G (p.Ile522Ser) c.*879T>G (n.*879T>G) c.1373T>G (p.Ile458Ser) c.1082T>G (p.Ile361Ser) | |
| 5 | g.150129771A>G | CA361714506 | PDGFRB | c.1565T>C (p.Ile522Thr) c.*879T>C (n.*879T>C) c.1373T>C (p.Ile458Thr) c.1082T>C (p.Ile361Thr) | gnomAD v4 |
| 5 | g.150129771A>T | CA361714507 | PDGFRB | c.1565T>A (p.Ile522Asn) c.*879T>A (n.*879T>A) c.1373T>A (p.Ile458Asn) c.1082T>A (p.Ile361Asn) | |
| 5 | g.150129772T>A | CA361714508 | PDGFRB | c.1564A>T (p.Ile522Phe) c.*878A>T (n.*878A>T) c.1372A>T (p.Ile458Phe) c.1081A>T (p.Ile361Phe) | |
| 5 | g.150129772T>C | CA361714509 | PDGFRB | c.1564A>G (p.Ile522Val) c.*878A>G (n.*878A>G) c.1372A>G (p.Ile458Val) c.1081A>G (p.Ile361Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.150129772T>G | CA361714512 | PDGFRB | c.1564A>C (p.Ile522Leu) c.*878A>C (n.*878A>C) c.1372A>C (p.Ile458Leu) c.1081A>C (p.Ile361Leu) | |
| 5 | g.150129772T= | CA1590805612 | PDGFRB | c.1564A= (p.Ile522=) c.*878A= (n.*878A=) c.1372A= (p.Ile458=) c.1081A= (p.Ile361=) | |
| 5 | g.150129773G>A | CA447144657 | PDGFRB | c.1563C>T (p.Val521=) c.*877C>T (n.*877C>T) c.1371C>T (p.Val457=) c.1080C>T (p.Val360=) | ClinVar dbSNP |
| 5 | g.150129773G>C | CA447144655 | PDGFRB | c.1563C>G (p.Val521=) c.*877C>G (n.*877C>G) c.1371C>G (p.Val457=) c.1080C>G (p.Val360=) | |
| 5 | g.150129773G= | CA1590805613 | PDGFRB | c.1563C= (p.Val521=) c.*877C= (n.*877C=) c.1371C= (p.Val457=) c.1080C= (p.Val360=) | |
| 5 | g.150129773G>T | CA447144654 | PDGFRB | c.1563C>A (p.Val521=) c.*877C>A (n.*877C>A) c.1371C>A (p.Val457=) c.1080C>A (p.Val360=) | |
| 5 | g.150129774A= | CA1590805614 | PDGFRB | c.1562T= (p.Val521=) c.*876T= (n.*876T=) c.1370T= (p.Val457=) c.1079T= (p.Val360=) | |
| 5 | g.150129774A>C | CA361714515 | PDGFRB | c.1562T>G (p.Val521Gly) c.*876T>G (n.*876T>G) c.1370T>G (p.Val457Gly) c.1079T>G (p.Val360Gly) | ClinVar dbSNP |
| 5 | g.150129774A>G | CA361714517 | PDGFRB | c.1562T>C (p.Val521Ala) c.*876T>C (n.*876T>C) c.1370T>C (p.Val457Ala) c.1079T>C (p.Val360Ala) | |
| 5 | g.150129774A>T | CA361714520 | PDGFRB | c.1562T>A (p.Val521Asp) c.*876T>A (n.*876T>A) c.1370T>A (p.Val457Asp) c.1079T>A (p.Val360Asp) | dbSNP |
| 5 | g.150129775C>A | CA361714528 | PDGFRB | c.1561G>T (p.Val521Phe) c.*875G>T (n.*875G>T) c.1369G>T (p.Val457Phe) c.1078G>T (p.Val360Phe) | |
| 5 | g.150129775C>G | CA361714527 | PDGFRB | c.1561G>C (p.Val521Leu) c.*875G>C (n.*875G>C) c.1369G>C (p.Val457Leu) c.1078G>C (p.Val360Leu) | |
| 5 | g.150129775C>T | CA361714524 | PDGFRB | c.1561G>A (p.Val521Ile) c.*875G>A (n.*875G>A) c.1369G>A (p.Val457Ile) c.1078G>A (p.Val360Ile) | |
| 5 | g.150129778_150129780del | CA2580614773 | PDGFRB | c.1559_1561del (p.Glu520del) c.*873_*875del (n.*873_*875del) c.1367_1369del (p.Glu456del) c.1076_1078del (p.Glu359del) | ClinVar |
| 5 | g.150129776C>A | CA361714532 | PDGFRB | c.1560G>T (p.Glu520Asp) c.*874G>T (n.*874G>T) c.1368G>T (p.Glu456Asp) c.1077G>T (p.Glu359Asp) | |
| 5 | g.150129776C>G | CA361714535 | PDGFRB | c.1560G>C (p.Glu520Asp) c.*874G>C (n.*874G>C) c.1368G>C (p.Glu456Asp) c.1077G>C (p.Glu359Asp) | |
| 5 | g.150129776C>T | CA447144666 | PDGFRB | c.1560G>A (p.Glu520=) c.*874G>A (n.*874G>A) c.1368G>A (p.Glu456=) c.1077G>A (p.Glu359=) | gnomAD v4 |
| 5 | g.150129777T>A | CA361714539 | PDGFRB | c.1559A>T (p.Glu520Val) c.*873A>T (n.*873A>T) c.1367A>T (p.Glu456Val) c.1076A>T (p.Glu359Val) | |
| 5 | g.150129777T>C | CA361714540 | PDGFRB | c.1559A>G (p.Glu520Gly) c.*873A>G (n.*873A>G) c.1367A>G (p.Glu456Gly) c.1076A>G (p.Glu359Gly) | |
| 5 | g.150129777T>G | CA361714542 | PDGFRB | c.1559A>C (p.Glu520Ala) c.*873A>C (n.*873A>C) c.1367A>C (p.Glu456Ala) c.1076A>C (p.Glu359Ala) |