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.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=) | |
| 12 | g.13569945C>T | CA478703964 | GRIN2B | c.2244G>A (p.Leu748=) n.504G>A c.69+38658G>A (n.69+38658G>A) c.30G>A (p.Leu10=) | |
| 12 | g.13569946A>C | CA383998204 | GRIN2B | c.2243T>G (p.Leu748Arg) n.503T>G c.69+38657T>G (n.69+38657T>G) c.29T>G (p.Leu10Arg) | |
| 12 | g.13569946A>G | CA383998205 | GRIN2B | c.2243T>C (p.Leu748Pro) n.503T>C c.69+38657T>C (n.69+38657T>C) c.29T>C (p.Leu10Pro) | |
| 12 | g.13569946A>T | CA383998206 | GRIN2B | c.2243T>A (p.Leu748Gln) n.503T>A c.69+38657T>A (n.69+38657T>A) c.29T>A (p.Leu10Gln) | |
| 12 | g.13569947G>A | CA478703973 | GRIN2B | c.2242C>T (p.Leu748=) n.502C>T c.69+38656C>T (n.69+38656C>T) c.28C>T (p.Leu10=) | ClinVar |
| 12 | g.13569947G>C | CA383998207 | GRIN2B | c.2242C>G (p.Leu748Val) n.502C>G c.69+38656C>G (n.69+38656C>G) c.28C>G (p.Leu10Val) | |
| 12 | g.13569947G>T | CA383998208 | GRIN2B | c.2242C>A (p.Leu748Met) n.502C>A c.69+38656C>A (n.69+38656C>A) c.28C>A (p.Leu10Met) | |
| 12 | g.13569948C>A | CA383998209 | GRIN2B | c.2241G>T (p.Lys747Asn) n.501G>T c.69+38655G>T (n.69+38655G>T) c.27G>T (p.Lys9Asn) | |
| 12 | g.13569948C= | CA2017440471 | GRIN2B | c.2241G= (p.Lys747=) n.501G= c.69+38655G= (n.69+38655G=) c.27G= (p.Lys9=) | |
| 12 | g.13569948C>G | CA383998210 | GRIN2B | c.2241G>C (p.Lys747Asn) n.501G>C c.69+38655G>C (n.69+38655G>C) c.27G>C (p.Lys9Asn) | |
| 12 | g.13569948C>T | CA478703978 | GRIN2B | c.2241G>A (p.Lys747=) n.501G>A c.69+38655G>A (n.69+38655G>A) c.27G>A (p.Lys9=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.13569949T>A | CA383998211 | GRIN2B | c.2240A>T (p.Lys747Met) n.500A>T c.69+38654A>T (n.69+38654A>T) c.26A>T (p.Lys9Met) | |
| 12 | g.13569949T>C | CA383998212 | GRIN2B | c.2240A>G (p.Lys747Arg) n.500A>G c.69+38654A>G (n.69+38654A>G) c.26A>G (p.Lys9Arg) | |
| 12 | g.13569949T>G | CA383998213 | GRIN2B | c.2240A>C (p.Lys747Thr) n.500A>C c.69+38654A>C (n.69+38654A>C) c.26A>C (p.Lys9Thr) | |
| 12 | g.13569950T>A | CA383998214 | GRIN2B | c.2239A>T (p.Lys747Ter) n.499A>T c.69+38653A>T (n.69+38653A>T) c.25A>T (p.Lys9Ter) | dbSNP |