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 |
|---|---|---|---|---|---|
| 12 | g.13569931C>A | CA383998175 | GRIN2B | c.2258G>T (p.Ser753Ile) n.518G>T c.69+38672G>T (n.69+38672G>T) c.44G>T (p.Ser15Ile) | |
| 12 | g.13569931C>G | CA383998176 | GRIN2B | c.2258G>C (p.Ser753Thr) n.518G>C c.69+38672G>C (n.69+38672G>C) c.44G>C (p.Ser15Thr) | |
| 12 | g.13569931C>T | CA383998177 | GRIN2B | c.2258G>A (p.Ser753Asn) n.518G>A c.69+38672G>A (n.69+38672G>A) c.44G>A (p.Ser15Asn) | |
| 12 | g.13569932T>A | CA383998178 | GRIN2B | c.2257A>T (p.Ser753Cys) n.517A>T c.69+38671A>T (n.69+38671A>T) c.43A>T (p.Ser15Cys) | |
| 12 | g.13569932T>C | CA383998179 | GRIN2B | c.2257A>G (p.Ser753Gly) n.517A>G c.69+38671A>G (n.69+38671A>G) c.43A>G (p.Ser15Gly) | |
| 12 | g.13569932T>G | CA383998180 | GRIN2B | c.2257A>C (p.Ser753Arg) n.517A>C c.69+38671A>C (n.69+38671A>C) c.43A>C (p.Ser15Arg) | |
| 12 | g.13569933G>A | CA478703915 | GRIN2B | c.2256C>T (p.Gly752=) n.516C>T c.69+38670C>T (n.69+38670C>T) c.42C>T (p.Gly14=) | gnomAD v4 |
| 12 | g.13569933G>C | CA478703912 | GRIN2B | c.2256C>G (p.Gly752=) n.516C>G c.69+38670C>G (n.69+38670C>G) c.42C>G (p.Gly14=) | |
| 12 | g.13569933G>T | CA478703914 | GRIN2B | c.2256C>A (p.Gly752=) n.516C>A c.69+38670C>A (n.69+38670C>A) c.42C>A (p.Gly14=) | |
| 12 | g.13569934C>A | CA383998181 | GRIN2B | c.2255G>T (p.Gly752Val) n.515G>T c.69+38669G>T (n.69+38669G>T) c.41G>T (p.Gly14Val) | |
| 12 | g.13569934C>G | CA383998182 | GRIN2B | c.2255G>C (p.Gly752Ala) n.515G>C c.69+38669G>C (n.69+38669G>C) c.41G>C (p.Gly14Ala) | |
| 12 | g.13569934C>T | CA383998183 | GRIN2B | c.2255G>A (p.Gly752Asp) n.515G>A c.69+38669G>A (n.69+38669G>A) c.41G>A (p.Gly14Asp) | |
| 12 | g.13569935C>A | CA383998184 | GRIN2B | c.2254G>T (p.Gly752Cys) n.514G>T c.69+38668G>T (n.69+38668G>T) c.40G>T (p.Gly14Cys) | |
| 12 | g.13569935C>G | CA383998185 | GRIN2B | c.2254G>C (p.Gly752Arg) n.514G>C c.69+38668G>C (n.69+38668G>C) c.40G>C (p.Gly14Arg) | |
| 12 | g.13569935C>T | CA383998186 | GRIN2B | c.2254G>A (p.Gly752Ser) n.514G>A c.69+38668G>A (n.69+38668G>A) c.40G>A (p.Gly14Ser) | |
| 12 | g.13569936A>C | CA383998187 | GRIN2B | c.2253T>G (p.Ile751Met) n.513T>G c.69+38667T>G (n.69+38667T>G) c.39T>G (p.Ile13Met) | |
| 12 | g.13569936A>G | CA478703924 | GRIN2B | c.2253T>C (p.Ile751=) n.513T>C c.69+38667T>C (n.69+38667T>C) c.39T>C (p.Ile13=) | |
| 12 | g.13569936A>T | CA478703925 | GRIN2B | c.2253T>A (p.Ile751=) n.513T>A c.69+38667T>A (n.69+38667T>A) c.39T>A (p.Ile13=) | |
| 12 | g.13569937A= | CA2017440466 | GRIN2B | c.2252T= (p.Ile751=) n.512T= c.69+38666T= (n.69+38666T=) c.38T= (p.Ile13=) | |
| 12 | g.13569937A>C | CA383998189 | GRIN2B | c.2252T>G (p.Ile751Ser) n.512T>G c.69+38666T>G (n.69+38666T>G) c.38T>G (p.Ile13Ser) | |
| 12 | g.13569937A>G | CA10577445 | GRIN2B | c.2252T>C (p.Ile751Thr) n.512T>C c.69+38666T>C (n.69+38666T>C) c.38T>C (p.Ile13Thr) | ClinVar dbSNP |
| 12 | g.13569937A>T | CA383998188 | GRIN2B | c.2252T>A (p.Ile751Asn) n.512T>A c.69+38666T>A (n.69+38666T>A) c.38T>A (p.Ile13Asn) | |
| 12 | g.13569938T>A | CA383998190 | GRIN2B | c.2251A>T (p.Ile751Phe) n.511A>T c.69+38665A>T (n.69+38665A>T) c.37A>T (p.Ile13Phe) | |
| 12 | g.13569938T>C | CA383998191 | GRIN2B | c.2251A>G (p.Ile751Val) n.511A>G c.69+38665A>G (n.69+38665A>G) c.37A>G (p.Ile13Val) | |
| 12 | g.13569938T>G | CA10584425 | GRIN2B | c.2251A>C (p.Ile751Leu) n.511A>C c.69+38665A>C (n.69+38665A>C) c.37A>C (p.Ile13Leu) | ClinVar dbSNP |
| 12 | g.13569938T= | CA2017440467 | GRIN2B | c.2251A= (p.Ile751=) n.511A= c.69+38665A= (n.69+38665A=) c.37A= (p.Ile13=) | |
| 12 | g.13569939G>A | CA478703935 | GRIN2B | c.2250C>T (p.Thr750=) n.510C>T c.69+38664C>T (n.69+38664C>T) c.36C>T (p.Thr12=) | gnomAD v4 |
| 12 | g.13569939G>C | CA6461089 | GRIN2B | c.2250C>G (p.Thr750=) n.510C>G c.69+38664C>G (n.69+38664C>G) c.36C>G (p.Thr12=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.13569939G= | CA2017440468 | GRIN2B | c.2250C= (p.Thr750=) n.510C= c.69+38664C= (n.69+38664C=) c.36C= (p.Thr12=) | |
| 12 | g.13569939G>T | CA478703938 | GRIN2B | c.2250C>A (p.Thr750=) n.510C>A c.69+38664C>A (n.69+38664C>A) c.36C>A (p.Thr12=) | |
| 12 | g.13569939_13569940dup | CA2580085196 | GRIN2B | c.2249_2250dup (p.Ile751ProfsTer?) n.509_510dup c.69+38663_69+38664dup (n.69+38663_69+38664dup) c.35_36dup (p.Ile13ProfsTer?) | ClinVar |
| 12 | g.13569940G>A | CA383998192 | GRIN2B | c.2249C>T (p.Thr750Ile) n.509C>T c.69+38663C>T (n.69+38663C>T) c.35C>T (p.Thr12Ile) | |
| 12 | g.13569940G>C | CA383998193 | GRIN2B | c.2249C>G (p.Thr750Ser) n.509C>G c.69+38663C>G (n.69+38663C>G) c.35C>G (p.Thr12Ser) | |
| 12 | g.13569940G>T | CA383998194 | GRIN2B | c.2249C>A (p.Thr750Asn) n.509C>A c.69+38663C>A (n.69+38663C>A) c.35C>A (p.Thr12Asn) | |
| 12 | g.13569941T>A | CA383998195 | GRIN2B | c.2248A>T (p.Thr750Ser) n.508A>T c.69+38662A>T (n.69+38662A>T) c.34A>T (p.Thr12Ser) | |
| 12 | g.13569941T>C | CA383998196 | GRIN2B | c.2248A>G (p.Thr750Ala) n.508A>G c.69+38662A>G (n.69+38662A>G) c.34A>G (p.Thr12Ala) | |
| 12 | g.13569941T>G | CA383998197 | GRIN2B | c.2248A>C (p.Thr750Pro) n.508A>C c.69+38662A>C (n.69+38662A>C) c.34A>C (p.Thr12Pro) | |
| 12 | g.13569942C>A | CA478703947 | GRIN2B | c.2247G>T (p.Val749=) n.507G>T c.69+38661G>T (n.69+38661G>T) c.33G>T (p.Val11=) | |
| 12 | g.13569942C= | CA2017440469 | GRIN2B | c.2247G= (p.Val749=) n.507G= c.69+38661G= (n.69+38661G=) c.33G= (p.Val11=) | |
| 12 | g.13569942C>G | CA478703949 | GRIN2B | c.2247G>C (p.Val749=) n.507G>C c.69+38661G>C (n.69+38661G>C) c.33G>C (p.Val11=) | |
| 12 | g.13569942C>T | CA6461090 | GRIN2B | c.2247G>A (p.Val749=) n.507G>A c.69+38661G>A (n.69+38661G>A) c.33G>A (p.Val11=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.13569943A= | CA2017440470 | GRIN2B | c.2246T= (p.Val749=) n.506T= c.69+38660T= (n.69+38660T=) c.32T= (p.Val11=) | |
| 12 | g.13569943A>C | CA383998198 | GRIN2B | c.2246T>G (p.Val749Gly) n.506T>G c.69+38660T>G (n.69+38660T>G) c.32T>G (p.Val11Gly) | dbSNP |
| 12 | g.13569943A>G | CA383998199 | GRIN2B | c.2246T>C (p.Val749Ala) n.506T>C c.69+38660T>C (n.69+38660T>C) c.32T>C (p.Val11Ala) | |
| 12 | g.13569943A>T | CA383998200 | GRIN2B | c.2246T>A (p.Val749Glu) n.506T>A c.69+38660T>A (n.69+38660T>A) c.32T>A (p.Val11Glu) | |
| 12 | g.13569944C>A | CA383998202 | GRIN2B | c.2245G>T (p.Val749Leu) n.505G>T c.69+38659G>T (n.69+38659G>T) c.31G>T (p.Val11Leu) | |
| 12 | g.13569944C>G | CA383998203 | GRIN2B | c.2245G>C (p.Val749Leu) n.505G>C c.69+38659G>C (n.69+38659G>C) c.31G>C (p.Val11Leu) | |
| 12 | g.13569944C>T | CA383998201 | GRIN2B | c.2245G>A (p.Val749Met) n.505G>A c.69+38659G>A (n.69+38659G>A) c.31G>A (p.Val11Met) | |
| 12 | g.13569945C>A | CA478703966 | GRIN2B | c.2244G>T (p.Leu748=) n.504G>T c.69+38658G>T (n.69+38658G>T) c.30G>T (p.Leu10=) | |
| 12 | g.13569945C>G | CA478703962 | GRIN2B | c.2244G>C (p.Leu748=) n.504G>C c.69+38658G>C (n.69+38658G>C) c.30G>C (p.Leu10=) |