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 |
|---|---|---|---|---|---|
| 4 | g.95114733T>A | CA357738290 | BMPR1B | c.247T>A (p.Cys83Ser) n.368T>A c.157T>A (p.Cys53Ser) | |
| 4 | g.95114733T>C | CA279104 | BMPR1B | c.247T>C (p.Cys83Arg) n.368T>C c.157T>C (p.Cys53Arg) | ClinVar dbSNP |
| 4 | g.95114733T>G | CA357738291 | BMPR1B | c.247T>G (p.Cys83Gly) n.368T>G c.157T>G (p.Cys53Gly) | |
| 4 | g.95114733T= | CA1477952322 | BMPR1B | c.247T= (p.Cys83=) n.368T= c.157T= (p.Cys53=) | |
| 4 | g.95114734G>A | CA357738292 | BMPR1B | c.248G>A (p.Cys83Tyr) n.369G>A c.158G>A (p.Cys53Tyr) | |
| 4 | g.95114734G>C | CA357738293 | BMPR1B | c.248G>C (p.Cys83Ser) n.369G>C c.158G>C (p.Cys53Ser) | |
| 4 | g.95114734G>T | CA357738294 | BMPR1B | c.248G>T (p.Cys83Phe) n.369G>T c.158G>T (p.Cys53Phe) | COSMIC |
| 4 | g.95114735T>A | CA357738295 | BMPR1B | c.249T>A (p.Cys83Ter) n.370T>A c.159T>A (p.Cys53Ter) | |
| 4 | g.95114735T>C | CA440476769 | BMPR1B | c.249T>C (p.Cys83=) n.370T>C c.159T>C (p.Cys53=) | |
| 4 | g.95114735T>G | CA357738296 | BMPR1B | c.249T>G (p.Cys83Trp) n.370T>G c.159T>G (p.Cys53Trp) | |
| 4 | g.95114736T>A | CA357738297 | BMPR1B | c.250T>A (p.Phe84Ile) n.371T>A c.160T>A (p.Phe54Ile) | |
| 4 | g.95114736T>C | CA357738299 | BMPR1B | c.250T>C (p.Phe84Leu) n.371T>C c.160T>C (p.Phe54Leu) | |
| 4 | g.95114736T>G | CA357738298 | BMPR1B | c.250T>G (p.Phe84Val) n.371T>G c.160T>G (p.Phe54Val) | gnomAD v4 |
| 4 | g.95114737T>A | CA357738300 | BMPR1B | c.251T>A (p.Phe84Tyr) n.372T>A c.161T>A (p.Phe54Tyr) | |
| 4 | g.95114737T>C | CA357738301 | BMPR1B | c.251T>C (p.Phe84Ser) n.372T>C c.161T>C (p.Phe54Ser) | |
| 4 | g.95114737T>G | CA357738302 | BMPR1B | c.251T>G (p.Phe84Cys) n.372T>G c.161T>G (p.Phe54Cys) | |
| 4 | g.95114738C>A | CA357738303 | BMPR1B | c.252C>A (p.Phe84Leu) n.373C>A c.162C>A (p.Phe54Leu) | |
| 4 | g.95114738C>G | CA357738304 | BMPR1B | c.252C>G (p.Phe84Leu) n.373C>G c.162C>G (p.Phe54Leu) | |
| 4 | g.95114738C>T | CA440476770 | BMPR1B | c.252C>T (p.Phe84=) n.373C>T c.162C>T (p.Phe54=) | |
| 4 | g.95114739A>C | CA357738305 | BMPR1B | c.253A>C (p.Thr85Pro) n.374A>C c.163A>C (p.Thr55Pro) | |
| 4 | g.95114739A>G | CA357738306 | BMPR1B | c.253A>G (p.Thr85Ala) n.374A>G c.163A>G (p.Thr55Ala) | |
| 4 | g.95114739A>T | CA357738307 | BMPR1B | c.253A>T (p.Thr85Ser) n.374A>T c.163A>T (p.Thr55Ser) | |
| 4 | g.95114740C>A | CA357738308 | BMPR1B | c.254C>A (p.Thr85Lys) n.375C>A c.164C>A (p.Thr55Lys) | |
| 4 | g.95114740C= | CA1477952329 | BMPR1B | c.254C= (p.Thr85=) n.375C= c.164C= (p.Thr55=) | |
| 4 | g.95114740C>G | CA357738309 | BMPR1B | c.254C>G (p.Thr85Arg) n.375C>G c.164C>G (p.Thr55Arg) | |
| 4 | g.95114740C>T | CA102313611 | BMPR1B | c.254C>T (p.Thr85Met) n.375C>T c.164C>T (p.Thr55Met) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.95114741G>A | CA3014899 | BMPR1B | c.255G>A (p.Thr85=) n.376G>A c.165G>A (p.Thr55=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95114741G>C | CA3014900 | BMPR1B | c.255G>C (p.Thr85=) n.376G>C c.165G>C (p.Thr55=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.95114741G= | CA1477952334 | BMPR1B | c.255G= (p.Thr85=) n.376G= c.165G= (p.Thr55=) | |
| 4 | g.95114741G>T | CA440476771 | BMPR1B | c.255G>T (p.Thr85=) n.376G>T c.165G>T (p.Thr55=) | |
| 4 | g.95114742A>C | CA357738310 | BMPR1B | c.256A>C (p.Met86Leu) n.377A>C c.166A>C (p.Met56Leu) | |
| 4 | g.95114742A>G | CA357738312 | BMPR1B | c.256A>G (p.Met86Val) n.377A>G c.166A>G (p.Met56Val) | |
| 4 | g.95114742A>T | CA357738311 | BMPR1B | c.256A>T (p.Met86Leu) n.377A>T c.166A>T (p.Met56Leu) | |
| 4 | g.95114743T>A | CA357738313 | BMPR1B | c.257T>A (p.Met86Lys) n.378T>A c.167T>A (p.Met56Lys) | |
| 4 | g.95114743T>C | CA357738314 | BMPR1B | c.257T>C (p.Met86Thr) n.378T>C c.167T>C (p.Met56Thr) | dbSNP |
| 4 | g.95114743T>G | CA357738315 | BMPR1B | c.257T>G (p.Met86Arg) n.378T>G c.167T>G (p.Met56Arg) | |
| 4 | g.95114743T= | CA1477952339 | BMPR1B | c.257T= (p.Met86=) n.378T= c.167T= (p.Met56=) | |
| 4 | g.95114744G>A | CA357738316 | BMPR1B | c.258G>A (p.Met86Ile) n.379G>A c.168G>A (p.Met56Ile) | |
| 4 | g.95114744G>C | CA357738317 | BMPR1B | c.258G>C (p.Met86Ile) n.379G>C c.168G>C (p.Met56Ile) | |
| 4 | g.95114744G>T | CA357738318 | BMPR1B | c.258G>T (p.Met86Ile) n.379G>T c.168G>T (p.Met56Ile) | |
| 4 | g.95114745A= | CA1477952344 | BMPR1B | c.259A= (p.Ile87=) n.380A= c.169A= (p.Ile57=) | |
| 4 | g.95114745A>C | CA357738319 | BMPR1B | c.259A>C (p.Ile87Leu) n.380A>C c.169A>C (p.Ile57Leu) | |
| 4 | g.95114745A>G | CA357738320 | BMPR1B | c.259A>G (p.Ile87Val) n.380A>G c.169A>G (p.Ile57Val) | dbSNP |
| 4 | g.95114745A>T | CA357738321 | BMPR1B | c.259A>T (p.Ile87Leu) n.380A>T c.169A>T (p.Ile57Leu) | |
| 4 | g.95114746T>A | CA357738322 | BMPR1B | c.260T>A (p.Ile87Lys) n.381T>A c.170T>A (p.Ile57Lys) | |
| 4 | g.95114746T>C | CA357738323 | BMPR1B | c.260T>C (p.Ile87Thr) n.381T>C c.170T>C (p.Ile57Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.95114746T>G | CA357738324 | BMPR1B | c.260T>G (p.Ile87Arg) n.381T>G c.170T>G (p.Ile57Arg) | |
| 4 | g.95114746T= | CA1477952347 | BMPR1B | c.260T= (p.Ile87=) n.381T= c.170T= (p.Ile57=) | |
| 4 | g.95114747A>C | CA440476772 | BMPR1B | c.261A>C (p.Ile87=) n.382A>C c.171A>C (p.Ile57=) | |
| 4 | g.95114747A>G | CA357738325 | BMPR1B | c.261A>G (p.Ile87Met) n.382A>G c.171A>G (p.Ile57Met) |