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 |
|---|---|---|---|---|---|
| 20 | g.57251112A= | CA2371748273 | BMP7 | c.418+14593T= (n.418+14593T=) c.74+14593T= | |
| 20 | g.57251112A>C | CA2580644849 | BMP7 | c.418+14593T>G (n.418+14593T>G) c.74+14593T>G | |
| 20 | g.57251112A>G | CA14791312 | BMP7 | c.418+14593T>C (n.418+14593T>C) c.74+14593T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57251112A>T | CA2580644850 | BMP7 | c.418+14593T>A (n.418+14593T>A) c.74+14593T>A | |
| 20 | g.57251113T>C | CA1018812820 | BMP7 | c.418+14592A>G (n.418+14592A>G) c.74+14592A>G | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57251113T= | CA2371748274 | BMP7 | c.418+14592A= (n.418+14592A=) c.74+14592A= | |
| 20 | g.57251114G= | CA2371748275 | BMP7 | c.418+14591C= (n.418+14591C=) c.74+14591C= | |
| 20 | g.57251114G>T | CA316818329 | BMP7 | c.418+14591C>A (n.418+14591C>A) c.74+14591C>A | dbSNP |
| 20 | g.57251118T>C | CA745903153 | BMP7 | c.418+14587A>G (n.418+14587A>G) c.74+14587A>G | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57251118T= | CA2371748276 | BMP7 | c.418+14587A= (n.418+14587A=) c.74+14587A= | |
| 20 | g.57251119A= | CA2371748277 | BMP7 | c.418+14586T= (n.418+14586T=) c.74+14586T= | |
| 20 | g.57251119A>T | CA2371748278 | BMP7 | c.418+14586T>A (n.418+14586T>A) c.74+14586T>A | dbSNP |
| 20 | g.57251121C>A | CA2816813828 | BMP7 | c.418+14584G>T (n.418+14584G>T) c.74+14584G>T | |
| 20 | g.57251121C= | CA2371748279 | BMP7 | c.418+14584G= (n.418+14584G=) c.74+14584G= | |
| 20 | g.57251121C>T | CA2371748280 | BMP7 | c.418+14584G>A (n.418+14584G>A) c.74+14584G>A | dbSNP |
| 20 | g.57251130G>A | CA2816813829 | BMP7 | c.418+14575C>T (n.418+14575C>T) c.74+14575C>T | |
| 20 | g.57251135A>G | CA2736952462 | BMP7 | c.418+14570T>C (n.418+14570T>C) c.74+14570T>C | dbSNP |
| 20 | g.57251139C>A | CA657963421 | BMP7 | c.418+14566G>T (n.418+14566G>T) c.74+14566G>T | COSMIC |
| 20 | g.57251141T>A | CA2371748282 | BMP7 | c.418+14564A>T (n.418+14564A>T) c.74+14564A>T | dbSNP |
| 20 | g.57251141T= | CA2371748281 | BMP7 | c.418+14564A= (n.418+14564A=) c.74+14564A= | |
| 20 | g.57251141_57251148delinsTACCACTG | CA2371748283 | BMP7 | c.418+14557_418+14564delinsCAGTGGTA (n.418+14557_418+14564delinsCAGTGGTA) c.74+14557_74+14564delinsCAGTGGTA | |
| 20 | g.57251144_57251150del | CA316818330 | BMP7 | c.418+14557_418+14563del (n.418+14557_418+14563del) c.74+14557_74+14563del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57251144C>T | CA2816813830 | BMP7 | c.418+14561G>A (n.418+14561G>A) c.74+14561G>A | |
| 20 | g.57251145A= | CA2371748284 | BMP7 | c.418+14560T= (n.418+14560T=) c.74+14560T= | |
| 20 | g.57251145A>G | CA2371748285 | BMP7 | c.418+14560T>C (n.418+14560T>C) c.74+14560T>C | dbSNP |
| 20 | g.57251147T>A | CA745903156 | BMP7 | c.418+14558A>T (n.418+14558A>T) c.74+14558A>T | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57251147T>C | CA2371748287 | BMP7 | c.418+14558A>G (n.418+14558A>G) c.74+14558A>G | dbSNP |
| 20 | g.57251147T= | CA2371748286 | BMP7 | c.418+14558A= (n.418+14558A=) c.74+14558A= | |
| 20 | g.57251150C>T | CA2532882518 | BMP7 | c.418+14555G>A (n.418+14555G>A) c.74+14555G>A | |
| 20 | g.57251152_57251153delinsTC | CA2371748288 | BMP7 | c.418+14552_418+14553delinsGA (n.418+14552_418+14553delinsGA) c.74+14552_74+14553delinsGA | |
| 20 | g.57251153C>A | CA2371748291 | BMP7 | c.418+14552G>T (n.418+14552G>T) c.74+14552G>T | dbSNP |
| 20 | g.57251153C= | CA2371748290 | BMP7 | c.418+14552G= (n.418+14552G=) c.74+14552G= | |
| 20 | g.57251156del | CA2371748289 | BMP7 | c.418+14552del (n.418+14552del) c.74+14552del | dbSNP |
| 20 | g.57251154C>A | CA2371748293 | BMP7 | c.418+14551G>T (n.418+14551G>T) c.74+14551G>T | dbSNP |
| 20 | g.57251154C= | CA2371748292 | BMP7 | c.418+14551G= (n.418+14551G=) c.74+14551G= | |
| 20 | g.57251154C>G | CA2371748294 | BMP7 | c.418+14551G>C (n.418+14551G>C) c.74+14551G>C | dbSNP |
| 20 | g.57251155C= | CA2371748295 | BMP7 | c.418+14550G= (n.418+14550G=) c.74+14550G= | |
| 20 | g.57251155C>G | CA2371748296 | BMP7 | c.418+14550G>C (n.418+14550G>C) c.74+14550G>C | dbSNP |
| 20 | g.57251155C>T | CA745903157 | BMP7 | c.418+14550G>A (n.418+14550G>A) c.74+14550G>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57251156C>A | CA2371748297 | BMP7 | c.418+14549G>T (n.418+14549G>T) c.74+14549G>T | dbSNP |
| 20 | g.57251156C= | CA2371748298 | BMP7 | c.418+14549G= (n.418+14549G=) c.74+14549G= | |
| 20 | g.57251159G>A | CA745903159 | BMP7 | c.418+14546C>T (n.418+14546C>T) c.74+14546C>T | dbSNP |
| 20 | g.57251159G= | CA2371748299 | BMP7 | c.418+14546C= (n.418+14546C=) c.74+14546C= | |
| 20 | g.57251166C= | CA2371748300 | BMP7 | c.418+14539G= (n.418+14539G=) c.74+14539G= | |
| 20 | g.57251166C>G | CA745903160 | BMP7 | c.418+14539G>C (n.418+14539G>C) c.74+14539G>C | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.57251168G>A | CA2371748302 | BMP7 | c.418+14537C>T (n.418+14537C>T) c.74+14537C>T | dbSNP |
| 20 | g.57251168G= | CA2371748301 | BMP7 | c.418+14537C= (n.418+14537C=) c.74+14537C= | |
| 20 | g.57251170A= | CA2371748303 | BMP7 | c.418+14535T= (n.418+14535T=) c.74+14535T= | |
| 20 | g.57251170A>C | CA316818331 | BMP7 | c.418+14535T>G (n.418+14535T>G) c.74+14535T>G | dbSNP |
| 20 | g.57251171G>A | CA2371748305 | BMP7 | c.418+14534C>T (n.418+14534C>T) c.74+14534C>T | dbSNP |