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 |
|---|---|---|---|---|---|
| 10 | g.43120184C>A | CA376557281 | RET | c.2315C>A (p.Ser772Tyr) n.2285C>A n.2276C>A c.2711C>A (p.Ser904Tyr) c.*1305C>A (n.*1305C>A) c.*60C>A (n.*60C>A) c.1949C>A (p.Ser650Tyr) | COSMIC COSMIC |
| 10 | g.43120184C= | CA1905820005 | RET | c.2315C= (p.Ser772=) n.2285C= n.2276C= c.2711C= (p.Ser904=) c.*1305C= (n.*1305C=) c.*60C= (n.*60C=) c.1949C= (p.Ser650=) | |
| 10 | g.43120184C>G | CA009020 | RET | c.2315C>G (p.Ser772Cys) n.2285C>G n.2276C>G c.2711C>G (p.Ser904Cys) c.*1305C>G (n.*1305C>G) c.*60C>G (n.*60C>G) c.1949C>G (p.Ser650Cys) | ClinVar dbSNP gnomAD v4 |
| 10 | g.43120184C>T | CA009027 | RET | c.2315C>T (p.Ser772Phe) n.2285C>T n.2276C>T c.2711C>T (p.Ser904Phe) c.*1305C>T (n.*1305C>T) c.*60C>T (n.*60C>T) c.1949C>T (p.Ser650Phe) | ClinVar dbSNP gnomAD v4 COSMIC |
| 10 | g.43120184_43120185delinsTG | CA645541262 | RET | c.2315_2316delinsTG (p.Ser772Leu) n.2285_2286delinsTG n.2276_2277delinsTG c.2711_2712delinsTG (p.Ser904Leu) c.*1305_*1306delinsTG (n.*1305_*1306delinsTG) c.*60_*61delinsTG (n.*60_*61delinsTG) c.1949_1950delinsTG (p.Ser650Leu) | COSMIC |
| 10 | g.43120184_43120186delinsTGG | CA645541263 | RET | c.2315_2317delinsTGG (p.Ser772_Tyr773delinsLeuAsp) n.2285_2287delinsTGG n.2276_2278delinsTGG c.2711_2713delinsTGG (p.Ser904_Tyr905delinsLeuAsp) c.*1305_*1307delinsTGG (n.*1305_*1307delinsTGG) c.*60_*62delinsTGG (n.*60_*62delinsTGG) c.1949_1951delinsTGG (p.Ser650_Tyr651delinsLeuAsp) | COSMIC |
| 10 | g.43120184_43120186delinsTTG | CA645541264 | RET | c.2315_2317delinsTTG (p.Ser772_Tyr773delinsPheAsp) n.2285_2287delinsTTG n.2276_2278delinsTTG c.2711_2713delinsTTG (p.Ser904_Tyr905delinsPheAsp) c.*1305_*1307delinsTTG (n.*1305_*1307delinsTTG) c.*60_*62delinsTTG (n.*60_*62delinsTTG) c.1949_1951delinsTTG (p.Ser650_Tyr651delinsPheAsp) | COSMIC |
| 10 | g.43120185C>A | CA040485 | RET | c.2316C>A (p.Ser772=) n.2286C>A n.2277C>A c.2712C>A (p.Ser904=) c.*1306C>A (n.*1306C>A) c.*61C>A (n.*61C>A) c.1950C>A (p.Ser650=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.43120185C= | CA1630848226 | RET | c.2316C= (p.Ser772=) n.2286C= n.2277C= c.2712C= (p.Ser904=) c.*1306C= (n.*1306C=) c.*61C= (n.*61C=) c.1950C= (p.Ser650=) | |
| 10 | g.43120185C>G | CA009034 | RET | c.2316C>G (p.Ser772=) n.2286C>G n.2277C>G c.2712C>G (p.Ser904=) c.*1306C>G (n.*1306C>G) c.*61C>G (n.*61C>G) c.1950C>G (p.Ser650=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.43120185C>T | CA469029015 | RET | c.2316C>T (p.Ser772=) n.2286C>T n.2277C>T c.2712C>T (p.Ser904=) c.*1306C>T (n.*1306C>T) c.*61C>T (n.*61C>T) c.1950C>T (p.Ser650=) | dbSNP |
| 10 | g.43120185_43120186delinsGG | CA645541265 | RET | c.2316_2317delinsGG (p.Tyr773Asp) n.2286_2287delinsGG n.2277_2278delinsGG c.2712_2713delinsGG (p.Tyr905Asp) c.*1306_*1307delinsGG (n.*1306_*1307delinsGG) c.*61_*62delinsGG (n.*61_*62delinsGG) c.1950_1951delinsGG (p.Tyr651Asp) | COSMIC |
| 10 | g.43120186T>A | CA376557282 | RET | c.2317T>A (p.Tyr773Asn) n.2287T>A n.2278T>A c.2713T>A (p.Tyr905Asn) c.*1307T>A (n.*1307T>A) c.*62T>A (n.*62T>A) c.1951T>A (p.Tyr651Asn) | dbSNP |
| 10 | g.43120186T>C | CA376557283 | RET | c.2317T>C (p.Tyr773His) n.2287T>C n.2278T>C c.2713T>C (p.Tyr905His) c.*1307T>C (n.*1307T>C) c.*62T>C (n.*62T>C) c.1951T>C (p.Tyr651His) | |
| 10 | g.43120186T>G | CA376557284 | RET | c.2317T>G (p.Tyr773Asp) n.2287T>G n.2278T>G c.2713T>G (p.Tyr905Asp) c.*1307T>G (n.*1307T>G) c.*62T>G (n.*62T>G) c.1951T>G (p.Tyr651Asp) | |
| 10 | g.43120187A>C | CA376557285 | RET | c.2318A>C (p.Tyr773Ser) n.2288A>C n.2279A>C c.2714A>C (p.Tyr905Ser) c.*1308A>C (n.*1308A>C) c.*63A>C (n.*63A>C) c.1952A>C (p.Tyr651Ser) | dbSNP |
| 10 | g.43120187A>G | CA376557286 | RET | c.2318A>G (p.Tyr773Cys) n.2288A>G n.2279A>G c.2714A>G (p.Tyr905Cys) c.*1308A>G (n.*1308A>G) c.*63A>G (n.*63A>G) c.1952A>G (p.Tyr651Cys) | dbSNP |
| 10 | g.43120187A>T | CA376557287 | RET | c.2318A>T (p.Tyr773Phe) n.2288A>T n.2279A>T c.2714A>T (p.Tyr905Phe) c.*1308A>T (n.*1308A>T) c.*63A>T (n.*63A>T) c.1952A>T (p.Tyr651Phe) | dbSNP |
| 10 | g.43120188C>A | CA376557288 | RET | c.2319C>A (p.Tyr773Ter) n.2289C>A n.2280C>A c.2715C>A (p.Tyr905Ter) c.*1309C>A (n.*1309C>A) c.*64C>A (n.*64C>A) c.1953C>A (p.Tyr651Ter) | dbSNP |
| 10 | g.43120188C= | CA1905820023 | RET | c.2319C= (p.Tyr773=) n.2289C= n.2280C= c.2715C= (p.Tyr905=) c.*1309C= (n.*1309C=) c.*64C= (n.*64C=) c.1953C= (p.Tyr651=) | |
| 10 | g.43120188C>G | CA376557289 | RET | c.2319C>G (p.Tyr773Ter) n.2289C>G n.2280C>G c.2715C>G (p.Tyr905Ter) c.*1309C>G (n.*1309C>G) c.*64C>G (n.*64C>G) c.1953C>G (p.Tyr651Ter) | dbSNP |
| 10 | g.43120188C>T | CA040517 | RET | c.2319C>T (p.Tyr773=) n.2289C>T n.2280C>T c.2715C>T (p.Tyr905=) c.*1309C>T (n.*1309C>T) c.*64C>T (n.*64C>T) c.1953C>T (p.Tyr651=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.43120189G>A | CA040531 | RET | c.2320G>A (p.Val774Met) n.2290G>A n.2281G>A c.2716G>A (p.Val906Met) c.*1310G>A (n.*1310G>A) c.*65G>A (n.*65G>A) c.1954G>A (p.Val652Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.43120189G>C | CA376557290 | RET | c.2320G>C (p.Val774Leu) n.2290G>C n.2281G>C c.2716G>C (p.Val906Leu) c.*1310G>C (n.*1310G>C) c.*65G>C (n.*65G>C) c.1954G>C (p.Val652Leu) | |
| 10 | g.43120189G= | CA1905820026 | RET | c.2320G= (p.Val774=) n.2290G= n.2281G= c.2716G= (p.Val906=) c.*1310G= (n.*1310G=) c.*65G= (n.*65G=) c.1954G= (p.Val652=) | |
| 10 | g.43120189G>T | CA376557291 | RET | c.2320G>T (p.Val774Leu) n.2290G>T n.2281G>T c.2716G>T (p.Val906Leu) c.*1310G>T (n.*1310G>T) c.*65G>T (n.*65G>T) c.1954G>T (p.Val652Leu) | |
| 10 | g.43120190T>A | CA376557292 | RET | c.2321T>A (p.Val774Glu) n.2291T>A n.2282T>A c.2717T>A (p.Val906Glu) c.*1311T>A (n.*1311T>A) c.*66T>A (n.*66T>A) c.1955T>A (p.Val652Glu) | dbSNP |
| 10 | g.43120190T>C | CA376557293 | RET | c.2321T>C (p.Val774Ala) n.2291T>C n.2282T>C c.2717T>C (p.Val906Ala) c.*1311T>C (n.*1311T>C) c.*66T>C (n.*66T>C) c.1955T>C (p.Val652Ala) | dbSNP |
| 10 | g.43120190T>G | CA376557294 | RET | c.2321T>G (p.Val774Gly) n.2291T>G n.2282T>G c.2717T>G (p.Val906Gly) c.*1311T>G (n.*1311T>G) c.*66T>G (n.*66T>G) c.1955T>G (p.Val652Gly) | |
| 10 | g.43120191G>A | CA469029042 | RET | c.2322G>A (p.Val774=) n.2292G>A n.2283G>A c.2718G>A (p.Val906=) c.*1312G>A (n.*1312G>A) c.*67G>A (n.*67G>A) c.1956G>A (p.Val652=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.43120191G>C | CA469029050 | RET | c.2322G>C (p.Val774=) n.2292G>C n.2283G>C c.2718G>C (p.Val906=) c.*1312G>C (n.*1312G>C) c.*67G>C (n.*67G>C) c.1956G>C (p.Val652=) | dbSNP |
| 10 | g.43120191G= | CA1905820030 | RET | c.2322G= (p.Val774=) n.2292G= n.2283G= c.2718G= (p.Val906=) c.*1312G= (n.*1312G=) c.*67G= (n.*67G=) c.1956G= (p.Val652=) | |
| 10 | g.43120191G>T | CA469029047 | RET | c.2322G>T (p.Val774=) n.2292G>T n.2283G>T c.2718G>T (p.Val906=) c.*1312G>T (n.*1312G>T) c.*67G>T (n.*67G>T) c.1956G>T (p.Val652=) | ClinVar dbSNP |
| 10 | g.43120192A= | CA1905820039 | RET | c.2323A= (p.Lys775=) n.2293A= n.2284A= c.2719A= (p.Lys907=) c.*1313A= (n.*1313A=) c.*68A= (n.*68A=) c.1957A= (p.Lys653=) | |
| 10 | g.43120192A>C | CA10578869 | RET | c.2323A>C (p.Lys775Gln) n.2293A>C n.2284A>C c.2719A>C (p.Lys907Gln) c.*1313A>C (n.*1313A>C) c.*68A>C (n.*68A>C) c.1957A>C (p.Lys653Gln) | ClinVar dbSNP |
| 10 | g.43120192A>G | CA009042 | RET | c.2323A>G (p.Lys775Glu) n.2293A>G n.2284A>G c.2719A>G (p.Lys907Glu) c.*1313A>G (n.*1313A>G) c.*68A>G (n.*68A>G) c.1957A>G (p.Lys653Glu) | dbSNP |
| 10 | g.43120192A>T | CA376557295 | RET | c.2323A>T (p.Lys775Ter) n.2293A>T n.2284A>T c.2719A>T (p.Lys907Ter) c.*1313A>T (n.*1313A>T) c.*68A>T (n.*68A>T) c.1957A>T (p.Lys653Ter) | dbSNP |
| 10 | g.43120193A= | CA1905820043 | RET | c.2324A= (p.Lys775=) n.2294A= n.2285A= c.2720A= (p.Lys907=) c.*1314A= (n.*1314A=) c.*69A= (n.*69A=) c.1958A= (p.Lys653=) | |
| 10 | g.43120193A>C | CA376557296 | RET | c.2324A>C (p.Lys775Thr) n.2294A>C n.2285A>C c.2720A>C (p.Lys907Thr) c.*1314A>C (n.*1314A>C) c.*69A>C (n.*69A>C) c.1958A>C (p.Lys653Thr) | |
| 10 | g.43120193A>G | CA376557297 | RET | c.2324A>G (p.Lys775Arg) n.2294A>G n.2285A>G c.2720A>G (p.Lys907Arg) c.*1314A>G (n.*1314A>G) c.*69A>G (n.*69A>G) c.1958A>G (p.Lys653Arg) | dbSNP |
| 10 | g.43120193A>T | CA009051 | RET | c.2324A>T (p.Lys775Met) n.2294A>T n.2285A>T c.2720A>T (p.Lys907Met) c.*1314A>T (n.*1314A>T) c.*69A>T (n.*69A>T) c.1958A>T (p.Lys653Met) | ClinVar dbSNP |
| 10 | g.43120194G>A | CA469029054 | RET | c.2325G>A (p.Lys775=) n.2295G>A n.2286G>A c.2721G>A (p.Lys907=) c.*1315G>A (n.*1315G>A) c.*70G>A (n.*70G>A) c.1959G>A (p.Lys653=) | ClinVar dbSNP |
| 10 | g.43120194G>C | CA376557298 | RET | c.2325G>C (p.Lys775Asn) n.2295G>C n.2286G>C c.2721G>C (p.Lys907Asn) c.*1315G>C (n.*1315G>C) c.*70G>C (n.*70G>C) c.1959G>C (p.Lys653Asn) | dbSNP |
| 10 | g.43120194G= | CA1905820048 | RET | c.2325G= (p.Lys775=) n.2295G= n.2286G= c.2721G= (p.Lys907=) c.*1315G= (n.*1315G=) c.*70G= (n.*70G=) c.1959G= (p.Lys653=) | |
| 10 | g.43120194G>T | CA376557299 | RET | c.2325G>T (p.Lys775Asn) n.2295G>T n.2286G>T c.2721G>T (p.Lys907Asn) c.*1315G>T (n.*1315G>T) c.*70G>T (n.*70G>T) c.1959G>T (p.Lys653Asn) | dbSNP |
| 10 | g.43120195A>C | CA469029056 | RET | c.2326A>C (p.Arg776=) n.2296A>C n.2287A>C c.2722A>C (p.Arg908=) c.*1316A>C (n.*1316A>C) c.*71A>C (n.*71A>C) c.1960A>C (p.Arg654=) | ClinVar |
| 10 | g.43120195A>G | CA376557301 | RET | c.2326A>G (p.Arg776Gly) n.2296A>G n.2287A>G c.2722A>G (p.Arg908Gly) c.*1316A>G (n.*1316A>G) c.*71A>G (n.*71A>G) c.1960A>G (p.Arg654Gly) | |
| 10 | g.43120195A>T | CA376557300 | RET | c.2326A>T (p.Arg776Trp) n.2296A>T n.2287A>T c.2722A>T (p.Arg908Trp) c.*1316A>T (n.*1316A>T) c.*71A>T (n.*71A>T) c.1960A>T (p.Arg654Trp) | |
| 10 | g.43120196G>A | CA040551 | RET | c.2327G>A (p.Arg776Lys) n.2297G>A n.2288G>A c.2723G>A (p.Arg908Lys) c.*1317G>A (n.*1317G>A) c.*72G>A (n.*72G>A) c.1961G>A (p.Arg654Lys) | ClinVar dbSNP ExAC gnomAD v2 COSMIC |
| 10 | g.43120196G>C | CA376557302 | RET | c.2327G>C (p.Arg776Thr) n.2297G>C n.2288G>C c.2723G>C (p.Arg908Thr) c.*1317G>C (n.*1317G>C) c.*72G>C (n.*72G>C) c.1961G>C (p.Arg654Thr) | dbSNP |