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 |
|---|---|---|---|---|---|
| 4 | g.1806163_1806165del | CA2810630 | FGFR3 | c.1955_1957del (p.Lys652del) c.*1005_*1007del (n.*1005_*1007del) c.1613_1615del (p.Lys538del) c.1937_1939del (p.Lys646del) c.1949_1951del (p.Lys650del) c.1952_1954del (p.Lys651del) c.1961_1963del (p.Lys654del) c.1958_1960del (p.Lys653del) n.2356_2358del n.2375_2377del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1806162_1806163delinsCT | CA2573130207 | FGFR3 | c.1954_1955delinsCT (p.Lys652Leu) c.*1004_*1005delinsCT (n.*1004_*1005delinsCT) c.1612_1613delinsCT (p.Lys538Leu) c.1936_1937delinsCT (p.Lys646Leu) c.1948_1949delinsCT (p.Lys650Leu) c.1951_1952delinsCT (p.Lys651Leu) c.1960_1961delinsCT (p.Lys654Leu) c.1957_1958delinsCT (p.Lys653Leu) n.2355_2356delinsCT n.2374_2375delinsCT | |
| 4 | g.1806162_1806164delinsGAC | CA2573130206 | FGFR3 | c.1954_1956delinsGAC (p.Lys652Asp) c.*1004_*1006delinsGAC (n.*1004_*1006delinsGAC) c.1612_1614delinsGAC (p.Lys538Asp) c.1936_1938delinsGAC (p.Lys646Asp) c.1948_1950delinsGAC (p.Lys650Asp) c.1951_1953delinsGAC (p.Lys651Asp) c.1960_1962delinsGAC (p.Lys654Asp) c.1957_1959delinsGAC (p.Lys653Asp) n.2355_2357delinsGAC n.2374_2376delinsGAC | |
| 4 | g.1806163A= | CA1433507819 | FGFR3 | c.1955A= (p.Lys652=) c.*1005A= (n.*1005A=) c.1613A= (p.Lys538=) c.1937A= (p.Lys646=) c.1949A= (p.Lys650=) c.1952A= (p.Lys651=) c.1961A= (p.Lys654=) c.1958A= (p.Lys653=) n.2356A= n.2375A= | |
| 4 | g.1806163A>C | CA345185 | FGFR3 | c.1955A>C (p.Lys652Thr) c.*1005A>C (n.*1005A>C) c.1613A>C (p.Lys538Thr) c.1937A>C (p.Lys646Thr) c.1949A>C (p.Lys650Thr) c.1952A>C (p.Lys651Thr) c.1961A>C (p.Lys654Thr) c.1958A>C (p.Lys653Thr) n.2356A>C n.2375A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.1806163A>G | CA355982606 | FGFR3 | c.1955A>G (p.Lys652Arg) c.*1005A>G (n.*1005A>G) c.1613A>G (p.Lys538Arg) c.1937A>G (p.Lys646Arg) c.1949A>G (p.Lys650Arg) c.1952A>G (p.Lys651Arg) c.1961A>G (p.Lys654Arg) c.1958A>G (p.Lys653Arg) n.2356A>G n.2375A>G | dbSNP |
| 4 | g.1806163A>T | CA126382 | FGFR3 | c.1955A>T (p.Lys652Met) c.*1005A>T (n.*1005A>T) c.1613A>T (p.Lys538Met) c.1937A>T (p.Lys646Met) c.1949A>T (p.Lys650Met) c.1952A>T (p.Lys651Met) c.1961A>T (p.Lys654Met) c.1958A>T (p.Lys653Met) n.2356A>T n.2375A>T | ClinVar dbSNP COSMIC |
| 4 | g.1806163_1806165delinsTGC | CA2586965955 | FGFR3 | c.1955_1957delinsTGC (p.Lys652_Thr653delinsMetPro) c.*1005_*1007delinsTGC (n.*1005_*1007delinsTGC) c.1613_1615delinsTGC (p.Lys538_Thr539delinsMetPro) c.1937_1939delinsTGC (p.Lys646_Thr647delinsMetPro) c.1949_1951delinsTGC (p.Lys650_Thr651delinsMetPro) c.1952_1954delinsTGC (p.Lys651_Thr652delinsMetPro) c.1961_1963delinsTGC (p.Lys654_Thr655delinsMetPro) c.1958_1960delinsTGC (p.Lys653_Thr654delinsMetPro) n.2356_2358delinsTGC n.2375_2377delinsTGC | |
| 4 | g.1806164G>A | CA438063262 | FGFR3 | c.1956G>A (p.Lys652=) c.*1006G>A (n.*1006G>A) c.1614G>A (p.Lys538=) c.1938G>A (p.Lys646=) c.1950G>A (p.Lys650=) c.1953G>A (p.Lys651=) c.1962G>A (p.Lys654=) c.1959G>A (p.Lys653=) n.2357G>A n.2376G>A | dbSNP gnomAD v4 |
| 4 | g.1806164G>C | CA280221 | FGFR3 | c.1956G>C (p.Lys652Asn) c.*1006G>C (n.*1006G>C) c.1614G>C (p.Lys538Asn) c.1938G>C (p.Lys646Asn) c.1950G>C (p.Lys650Asn) c.1953G>C (p.Lys651Asn) c.1962G>C (p.Lys654Asn) c.1959G>C (p.Lys653Asn) n.2357G>C n.2376G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.1806164G= | CA1433507820 | FGFR3 | c.1956G= (p.Lys652=) c.*1006G= (n.*1006G=) c.1614G= (p.Lys538=) c.1938G= (p.Lys646=) c.1950G= (p.Lys650=) c.1953G= (p.Lys651=) c.1962G= (p.Lys654=) c.1959G= (p.Lys653=) n.2357G= n.2376G= | |
| 4 | g.1806164G>T | CA341419 | FGFR3 | c.1956G>T (p.Lys652Asn) c.*1006G>T (n.*1006G>T) c.1614G>T (p.Lys538Asn) c.1938G>T (p.Lys646Asn) c.1950G>T (p.Lys650Asn) c.1953G>T (p.Lys651Asn) c.1962G>T (p.Lys654Asn) c.1959G>T (p.Lys653Asn) n.2357G>T n.2376G>T | ClinVar dbSNP COSMIC |
| 4 | g.1806165A>C | CA355982611 | FGFR3 | c.1957A>C (p.Thr653Pro) c.*1007A>C (n.*1007A>C) c.1615A>C (p.Thr539Pro) c.1939A>C (p.Thr647Pro) c.1951A>C (p.Thr651Pro) c.1954A>C (p.Thr652Pro) c.1963A>C (p.Thr655Pro) c.1960A>C (p.Thr654Pro) n.2358A>C n.2377A>C | |
| 4 | g.1806165A>G | CA355982614 | FGFR3 | c.1957A>G (p.Thr653Ala) c.*1007A>G (n.*1007A>G) c.1615A>G (p.Thr539Ala) c.1939A>G (p.Thr647Ala) c.1951A>G (p.Thr651Ala) c.1954A>G (p.Thr652Ala) c.1963A>G (p.Thr655Ala) c.1960A>G (p.Thr654Ala) n.2358A>G n.2377A>G | |
| 4 | g.1806165A>T | CA355982615 | FGFR3 | c.1957A>T (p.Thr653Ser) c.*1007A>T (n.*1007A>T) c.1615A>T (p.Thr539Ser) c.1939A>T (p.Thr647Ser) c.1951A>T (p.Thr651Ser) c.1954A>T (p.Thr652Ser) c.1963A>T (p.Thr655Ser) c.1960A>T (p.Thr654Ser) n.2358A>T n.2377A>T | |
| 4 | g.1806166C>A | CA355982618 | FGFR3 | c.1958C>A (p.Thr653Lys) c.*1008C>A (n.*1008C>A) c.1616C>A (p.Thr539Lys) c.1940C>A (p.Thr647Lys) c.1952C>A (p.Thr651Lys) c.1955C>A (p.Thr652Lys) c.1964C>A (p.Thr655Lys) c.1961C>A (p.Thr654Lys) n.2359C>A n.2378C>A | |
| 4 | g.1806166C>G | CA355982619 | FGFR3 | c.1958C>G (p.Thr653Arg) c.*1008C>G (n.*1008C>G) c.1616C>G (p.Thr539Arg) c.1940C>G (p.Thr647Arg) c.1952C>G (p.Thr651Arg) c.1955C>G (p.Thr652Arg) c.1964C>G (p.Thr655Arg) c.1961C>G (p.Thr654Arg) n.2359C>G n.2378C>G | |
| 4 | g.1806166C>T | CA355982622 | FGFR3 | c.1958C>T (p.Thr653Met) c.*1008C>T (n.*1008C>T) c.1616C>T (p.Thr539Met) c.1940C>T (p.Thr647Met) c.1952C>T (p.Thr651Met) c.1955C>T (p.Thr652Met) c.1952C>T (p.Thr651Ile) c.1958C>T (p.Thr653Ile) c.1616C>T (p.Thr539Ile) c.1964C>T (p.Thr655Met) c.1961C>T (p.Thr654Met) c.1955C>T (p.Thr652Ile) n.2359C>T n.2378C>T | COSMIC |
| 4 | g.1806167G>A | CA2810632 | FGFR3 | c.1959G>A (p.Thr653=) c.*1009G>A (n.*1009G>A) c.1617G>A (p.Thr539=) c.1941G>A (p.Thr647=) c.1953G>A (p.Thr651=) c.1956G>A (p.Thr652=) c.1965G>A (p.Thr655=) c.1962G>A (p.Thr654=) n.2379G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1806167G>C | CA438063264 | FGFR3 | c.1959G>C (p.Thr653=) c.*1009G>C (n.*1009G>C) c.1617G>C (p.Thr539=) c.1941G>C (p.Thr647=) c.1953G>C (p.Thr651=) c.1956G>C (p.Thr652=) c.1965G>C (p.Thr655=) c.1962G>C (p.Thr654=) n.2379G>C | gnomAD v4 |
| 4 | g.1806167G= | CA16605084 | FGFR3 | c.1959G= (p.Thr653=) c.*1009G= (n.*1009G=) c.1617G= (p.Thr539=) c.1941G= (p.Thr647=) c.1953G= (p.Thr651=) c.1956G= (p.Thr652=) c.1965G= (p.Thr655=) c.1962G= (p.Thr654=) n.2379G= | |
| 4 | g.1806167G>T | CA438063265 | FGFR3 | c.1959G>T (p.Thr653=) c.*1009G>T (n.*1009G>T) c.1617G>T (p.Thr539=) c.1941G>T (p.Thr647=) c.1953G>T (p.Thr651=) c.1956G>T (p.Thr652=) c.1965G>T (p.Thr655=) c.1962G>T (p.Thr654=) n.2379G>T | |
| 4 | g.1806168A= | CA1433507821 | FGFR3 | c.1960A= (p.Thr654=) c.*1010A= (n.*1010A=) c.1618A= (p.Thr540=) c.1942A= (p.Thr648=) c.1954A= (p.Thr652=) c.1957A= (p.Thr653=) c.1966A= (p.Thr656=) c.1963A= (p.Thr655=) n.2361A= n.2380A= | |
| 4 | g.1806168A>C | CA355982625 | FGFR3 | c.1960A>C (p.Thr654Pro) c.*1010A>C (n.*1010A>C) c.1618A>C (p.Thr540Pro) c.1942A>C (p.Thr648Pro) c.1954A>C (p.Thr652Pro) c.1957A>C (p.Thr653Pro) c.1966A>C (p.Thr656Pro) c.1963A>C (p.Thr655Pro) n.2361A>C n.2380A>C | |
| 4 | g.1806168A>G | CA355982627 | FGFR3 | c.1960A>G (p.Thr654Ala) c.*1010A>G (n.*1010A>G) c.1618A>G (p.Thr540Ala) c.1942A>G (p.Thr648Ala) c.1954A>G (p.Thr652Ala) c.1957A>G (p.Thr653Ala) c.1966A>G (p.Thr656Ala) c.1963A>G (p.Thr655Ala) n.2361A>G n.2380A>G | ClinVar dbSNP |
| 4 | g.1806168A>T | CA355982628 | FGFR3 | c.1960A>T (p.Thr654Ser) c.*1010A>T (n.*1010A>T) c.1618A>T (p.Thr540Ser) c.1942A>T (p.Thr648Ser) c.1954A>T (p.Thr652Ser) c.1957A>T (p.Thr653Ser) c.1966A>T (p.Thr656Ser) c.1963A>T (p.Thr655Ser) n.2361A>T n.2380A>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1806169C>A | CA355982632 | FGFR3 | c.1961C>A (p.Thr654Asn) c.*1011C>A (n.*1011C>A) c.1619C>A (p.Thr540Asn) c.1943C>A (p.Thr648Asn) c.1955C>A (p.Thr652Asn) c.1958C>A (p.Thr653Asn) c.1967C>A (p.Thr656Asn) c.1964C>A (p.Thr655Asn) n.2362C>A n.2381C>A | |
| 4 | g.1806169C= | CA1433507822 | FGFR3 | c.1961C= (p.Thr654=) c.*1011C= (n.*1011C=) c.1619C= (p.Thr540=) c.1943C= (p.Thr648=) c.1955C= (p.Thr652=) c.1958C= (p.Thr653=) c.1967C= (p.Thr656=) c.1964C= (p.Thr655=) n.2362C= n.2381C= | |
| 4 | g.1806169C>G | CA2810633 | FGFR3 | c.1961C>G (p.Thr654Ser) c.*1011C>G (n.*1011C>G) c.1619C>G (p.Thr540Ser) c.1943C>G (p.Thr648Ser) c.1955C>G (p.Thr652Ser) c.1958C>G (p.Thr653Ser) c.1967C>G (p.Thr656Ser) c.1964C>G (p.Thr655Ser) n.2362C>G n.2381C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1806169C>T | CA355982631 | FGFR3 | c.1961C>T (p.Thr654Ile) c.*1011C>T (n.*1011C>T) c.1619C>T (p.Thr540Ile) c.1943C>T (p.Thr648Ile) c.1955C>T (p.Thr652Ile) c.1958C>T (p.Thr653Ile) c.1967C>T (p.Thr656Ile) c.1964C>T (p.Thr655Ile) n.2362C>T n.2381C>T | COSMIC |
| 4 | g.1806170C>A | CA438063270 | FGFR3 | c.1962C>A (p.Thr654=) c.*1012C>A (n.*1012C>A) c.1620C>A (p.Thr540=) c.1944C>A (p.Thr648=) c.1956C>A (p.Thr652=) c.1959C>A (p.Thr653=) c.1968C>A (p.Thr656=) c.1965C>A (p.Thr655=) n.2363C>A n.2382C>A | dbSNP |
| 4 | g.1806170C= | CA1433507823 | FGFR3 | c.1962C= (p.Thr654=) c.*1012C= (n.*1012C=) c.1620C= (p.Thr540=) c.1944C= (p.Thr648=) c.1956C= (p.Thr652=) c.1959C= (p.Thr653=) c.1968C= (p.Thr656=) c.1965C= (p.Thr655=) n.2363C= n.2382C= | |
| 4 | g.1806170C>G | CA438063272 | FGFR3 | c.1962C>G (p.Thr654=) c.*1012C>G (n.*1012C>G) c.1620C>G (p.Thr540=) c.1944C>G (p.Thr648=) c.1956C>G (p.Thr652=) c.1959C>G (p.Thr653=) c.1968C>G (p.Thr656=) c.1965C>G (p.Thr655=) n.2363C>G n.2382C>G | dbSNP gnomAD v4 |
| 4 | g.1806170C>T | CA438063271 | FGFR3 | c.1962C>T (p.Thr654=) c.*1012C>T (n.*1012C>T) c.1620C>T (p.Thr540=) c.1944C>T (p.Thr648=) c.1956C>T (p.Thr652=) c.1959C>T (p.Thr653=) c.1968C>T (p.Thr656=) c.1965C>T (p.Thr655=) n.2363C>T n.2382C>T | dbSNP gnomAD v4 |
| 4 | g.1806171A= | CA1433507824 | FGFR3 | c.1963A= (p.Asn655=) c.*1013A= (n.*1013A=) c.1621A= (p.Asn541=) c.1945A= (p.Asn649=) c.1957A= (p.Asn653=) c.1960A= (p.Asn654=) c.1969A= (p.Asn657=) c.1966A= (p.Asn656=) n.2364A= n.2383A= | |
| 4 | g.1806171A>C | CA355982639 | FGFR3 | c.1963A>C (p.Asn655His) c.*1013A>C (n.*1013A>C) c.1621A>C (p.Asn541His) c.1945A>C (p.Asn649His) c.1957A>C (p.Asn653His) c.1960A>C (p.Asn654His) c.1969A>C (p.Asn657His) c.1966A>C (p.Asn656His) n.2364A>C n.2383A>C | dbSNP COSMIC |
| 4 | g.1806171A>G | CA355982636 | FGFR3 | c.1963A>G (p.Asn655Asp) c.*1013A>G (n.*1013A>G) c.1621A>G (p.Asn541Asp) c.1945A>G (p.Asn649Asp) c.1957A>G (p.Asn653Asp) c.1960A>G (p.Asn654Asp) c.1969A>G (p.Asn657Asp) c.1966A>G (p.Asn656Asp) n.2364A>G n.2383A>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.1806171A>T | CA355982637 | FGFR3 | c.1963A>T (p.Asn655Tyr) c.*1013A>T (n.*1013A>T) c.1621A>T (p.Asn541Tyr) c.1945A>T (p.Asn649Tyr) c.1957A>T (p.Asn653Tyr) c.1960A>T (p.Asn654Tyr) c.1969A>T (p.Asn657Tyr) c.1966A>T (p.Asn656Tyr) n.2364A>T n.2383A>T | |
| 4 | g.1806172A= | CA1433507825 | FGFR3 | c.1964A= (p.Asn655=) c.*1014A= (n.*1014A=) c.1622A= (p.Asn541=) c.1946A= (p.Asn649=) c.1958A= (p.Asn653=) c.1961A= (p.Asn654=) c.1970A= (p.Asn657=) c.1967A= (p.Asn656=) n.2365A= n.2384A= | |
| 4 | g.1806172A>C | CA355982641 | FGFR3 | c.1964A>C (p.Asn655Thr) c.*1014A>C (n.*1014A>C) c.1622A>C (p.Asn541Thr) c.1946A>C (p.Asn649Thr) c.1958A>C (p.Asn653Thr) c.1961A>C (p.Asn654Thr) c.1970A>C (p.Asn657Thr) c.1967A>C (p.Asn656Thr) n.2365A>C n.2384A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1806172A>G | CA355982643 | FGFR3 | c.1964A>G (p.Asn655Ser) c.*1014A>G (n.*1014A>G) c.1622A>G (p.Asn541Ser) c.1946A>G (p.Asn649Ser) c.1958A>G (p.Asn653Ser) c.1961A>G (p.Asn654Ser) c.1970A>G (p.Asn657Ser) c.1967A>G (p.Asn656Ser) n.2365A>G n.2384A>G | dbSNP |
| 4 | g.1806172A>T | CA355982645 | FGFR3 | c.1964A>T (p.Asn655Ile) c.*1014A>T (n.*1014A>T) c.1622A>T (p.Asn541Ile) c.1946A>T (p.Asn649Ile) c.1958A>T (p.Asn653Ile) c.1961A>T (p.Asn654Ile) c.1970A>T (p.Asn657Ile) c.1967A>T (p.Asn656Ile) n.2365A>T n.2384A>T | dbSNP |
| 4 | g.1806173C>A | CA355982647 | FGFR3 | c.1965C>A (p.Asn655Lys) c.*1015C>A (n.*1015C>A) c.1623C>A (p.Asn541Lys) c.1947C>A (p.Asn649Lys) c.1959C>A (p.Asn653Lys) c.1962C>A (p.Asn654Lys) c.1971C>A (p.Asn657Lys) c.1968C>A (p.Asn656Lys) n.2366C>A n.2385C>A | dbSNP gnomAD v4 |
| 4 | g.1806173C= | CA1433507826 | FGFR3 | c.1965C= (p.Asn655=) c.*1015C= (n.*1015C=) c.1623C= (p.Asn541=) c.1947C= (p.Asn649=) c.1959C= (p.Asn653=) c.1962C= (p.Asn654=) c.1971C= (p.Asn657=) c.1968C= (p.Asn656=) n.2366C= n.2385C= | |
| 4 | g.1806173C>G | CA2810635 | FGFR3 | c.1965C>G (p.Asn655Lys) c.*1015C>G (n.*1015C>G) c.1623C>G (p.Asn541Lys) c.1947C>G (p.Asn649Lys) c.1959C>G (p.Asn653Lys) c.1962C>G (p.Asn654Lys) c.1971C>G (p.Asn657Lys) c.1968C>G (p.Asn656Lys) n.2366C>G n.2385C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1806173C>T | CA2810634 | FGFR3 | c.1965C>T (p.Asn655=) c.*1015C>T (n.*1015C>T) c.1623C>T (p.Asn541=) c.1947C>T (p.Asn649=) c.1959C>T (p.Asn653=) c.1962C>T (p.Asn654=) c.1971C>T (p.Asn657=) c.1968C>T (p.Asn656=) n.2366C>T n.2385C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1806174G>A | CA355982650 | FGFR3 | c.1965+1G>A (n.1965+1G>A) c.*1015+1G>A (n.*1015+1G>A) c.1623+1G>A (n.1623+1G>A) c.1947+1G>A (n.1947+1G>A) c.1959+1G>A (n.1959+1G>A) c.1962+1G>A (n.1962+1G>A) c.1971+1G>A (n.1971+1G>A) c.1968+1G>A (n.1968+1G>A) n.2366+1G>A n.2385+1G>A | dbSNP gnomAD v4 |
| 4 | g.1806174G>C | CA355982651 | FGFR3 | c.1965+1G>C (n.1965+1G>C) c.*1015+1G>C (n.*1015+1G>C) c.1623+1G>C (n.1623+1G>C) c.1947+1G>C (n.1947+1G>C) c.1959+1G>C (n.1959+1G>C) c.1962+1G>C (n.1962+1G>C) c.1971+1G>C (n.1971+1G>C) c.1968+1G>C (n.1968+1G>C) n.2366+1G>C n.2385+1G>C | dbSNP |
| 4 | g.1806174G>T | CA355982653 | FGFR3 | c.1965+1G>T (n.1965+1G>T) c.*1015+1G>T (n.*1015+1G>T) c.1623+1G>T (n.1623+1G>T) c.1947+1G>T (n.1947+1G>T) c.1959+1G>T (n.1959+1G>T) c.1962+1G>T (n.1962+1G>T) c.1971+1G>T (n.1971+1G>T) c.1968+1G>T (n.1968+1G>T) n.2366+1G>T n.2385+1G>T | |
| 4 | g.1806175_1806257del | CA2669554200 | FGFR3 | c.1965+2_1966del c.*1015+2_*1016del c.1623+2_1624del c.1947+2_1948del c.1959+2_1960del c.1962+2_1962+84del (n.1962+2_1962+84del) c.1971+2_1972del c.1968+2_1969del c.1962+2_1963del n.2366+2_2367del n.2385+2_2386del | gnomAD v4 |