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 |
|---|---|---|---|---|---|
| 15 | g.42730655_42730657del | CA2628073562 | CDAN1 | c.2119_2121del (p.Val707del) c.*1297_*1299del (n.*1297_*1299del) c.112_114del (p.Val38del) c.2122_2124del (p.Val708del) c.2146_2148del (p.Val716del) c.2143_2145del (p.Val715del) c.1111_1113del (p.Val371del) c.1363_1365del (p.Val455del) n.2119_2121del n.2176_2178del n.2139_2141del | gnomAD v4 |
| 15 | g.42730657A= | CA2172870105 | CDAN1 | c.2115T= (p.His705=) c.*1293T= (n.*1293T=) c.108T= (p.His36=) c.2118T= (p.His706=) c.2142T= (p.His714=) c.2139T= (p.His713=) c.1107T= (p.His369=) c.1359T= (p.His453=) n.2115T= n.2172T= n.2135T= | |
| 15 | g.42730657A>C | CA392042291 | CDAN1 | c.2115T>G (p.His705Gln) c.*1293T>G (n.*1293T>G) c.108T>G (p.His36Gln) c.2118T>G (p.His706Gln) c.2142T>G (p.His714Gln) c.2139T>G (p.His713Gln) c.1107T>G (p.His369Gln) c.1359T>G (p.His453Gln) n.2115T>G n.2172T>G n.2135T>G | |
| 15 | g.42730657A>G | CA7515818 | CDAN1 | c.2115T>C (p.His705=) c.*1293T>C (n.*1293T>C) c.108T>C (p.His36=) c.2118T>C (p.His706=) c.2142T>C (p.His714=) c.2139T>C (p.His713=) c.1107T>C (p.His369=) c.1359T>C (p.His453=) n.2115T>C n.2172T>C n.2135T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42730657A>T | CA392042295 | CDAN1 | c.2115T>A (p.His705Gln) c.*1293T>A (n.*1293T>A) c.108T>A (p.His36Gln) c.2118T>A (p.His706Gln) c.2142T>A (p.His714Gln) c.2139T>A (p.His713Gln) c.1107T>A (p.His369Gln) c.1359T>A (p.His453Gln) n.2115T>A n.2172T>A n.2135T>A | |
| 15 | g.42730658del | CA2628073568 | CDAN1 | c.2114del (p.His705LeufsTer?) c.*1292del (n.*1292del) c.107del (p.His36LeufsTer?) c.2117del (p.His706LeufsTer?) c.2141del (p.His714LeufsTer?) c.2138del (p.His713LeufsTer?) c.1106del (p.His369LeufsTer?) c.1358del (p.His453LeufsTer?) n.2114del n.2171del n.2134del | gnomAD v4 |
| 15 | g.42730658T>A | CA392042296 | CDAN1 | c.2114A>T (p.His705Leu) c.*1292A>T (n.*1292A>T) c.107A>T (p.His36Leu) c.2117A>T (p.His706Leu) c.2141A>T (p.His714Leu) c.2138A>T (p.His713Leu) c.1106A>T (p.His369Leu) c.1358A>T (p.His453Leu) n.2114A>T n.2171A>T n.2134A>T | |
| 15 | g.42730658T>C | CA392042297 | CDAN1 | c.2114A>G (p.His705Arg) c.*1292A>G (n.*1292A>G) c.107A>G (p.His36Arg) c.2117A>G (p.His706Arg) c.2141A>G (p.His714Arg) c.2138A>G (p.His713Arg) c.1106A>G (p.His369Arg) c.1358A>G (p.His453Arg) n.2114A>G n.2171A>G n.2134A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42730658T>G | CA392042298 | CDAN1 | c.2114A>C (p.His705Pro) c.*1292A>C (n.*1292A>C) c.107A>C (p.His36Pro) c.2117A>C (p.His706Pro) c.2141A>C (p.His714Pro) c.2138A>C (p.His713Pro) c.1106A>C (p.His369Pro) c.1358A>C (p.His453Pro) n.2114A>C n.2171A>C n.2134A>C | |
| 15 | g.42730658T= | CA2172870106 | CDAN1 | c.2114A= (p.His705=) c.*1292A= (n.*1292A=) c.107A= (p.His36=) c.2117A= (p.His706=) c.2141A= (p.His714=) c.2138A= (p.His713=) c.1106A= (p.His369=) c.1358A= (p.His453=) n.2114A= n.2171A= n.2134A= | |
| 15 | g.42730659G>A | CA392042307 | CDAN1 | c.2113C>T (p.His705Tyr) c.*1291C>T (n.*1291C>T) c.106C>T (p.His36Tyr) c.2116C>T (p.His706Tyr) c.2140C>T (p.His714Tyr) c.2137C>T (p.His713Tyr) c.1105C>T (p.His369Tyr) c.1357C>T (p.His453Tyr) n.2113C>T n.2170C>T n.2133C>T | dbSNP gnomAD v4 |
| 15 | g.42730659G>C | CA392042301 | CDAN1 | c.2113C>G (p.His705Asp) c.*1291C>G (n.*1291C>G) c.106C>G (p.His36Asp) c.2116C>G (p.His706Asp) c.2140C>G (p.His714Asp) c.2137C>G (p.His713Asp) c.1105C>G (p.His369Asp) c.1357C>G (p.His453Asp) n.2113C>G n.2170C>G n.2133C>G | |
| 15 | g.42730659G= | CA2172870107 | CDAN1 | c.2113C= (p.His705=) c.*1291C= (n.*1291C=) c.106C= (p.His36=) c.2116C= (p.His706=) c.2140C= (p.His714=) c.2137C= (p.His713=) c.1105C= (p.His369=) c.1357C= (p.His453=) n.2113C= n.2170C= n.2133C= | |
| 15 | g.42730659G>T | CA392042306 | CDAN1 | c.2113C>A (p.His705Asn) c.*1291C>A (n.*1291C>A) c.106C>A (p.His36Asn) c.2116C>A (p.His706Asn) c.2140C>A (p.His714Asn) c.2137C>A (p.His713Asn) c.1105C>A (p.His369Asn) c.1357C>A (p.His453Asn) n.2113C>A n.2170C>A n.2133C>A | |
| 15 | g.42730660G>A | CA489895213 | CDAN1 | c.2112C>T (p.Asp704=) c.*1290C>T (n.*1290C>T) c.105C>T (p.Asp35=) c.2115C>T (p.Asp705=) c.2139C>T (p.Asp713=) c.2136C>T (p.Asp712=) c.1104C>T (p.Asp368=) c.1356C>T (p.Asp452=) n.2112C>T n.2169C>T n.2132C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42730660G>C | CA392042309 | CDAN1 | c.2112C>G (p.Asp704Glu) c.*1290C>G (n.*1290C>G) c.105C>G (p.Asp35Glu) c.2115C>G (p.Asp705Glu) c.2139C>G (p.Asp713Glu) c.2136C>G (p.Asp712Glu) c.1104C>G (p.Asp368Glu) c.1356C>G (p.Asp452Glu) n.2112C>G n.2169C>G n.2132C>G | |
| 15 | g.42730660G= | CA2172870108 | CDAN1 | c.2112C= (p.Asp704=) c.*1290C= (n.*1290C=) c.105C= (p.Asp35=) c.2115C= (p.Asp705=) c.2139C= (p.Asp713=) c.2136C= (p.Asp712=) c.1104C= (p.Asp368=) c.1356C= (p.Asp452=) n.2112C= n.2169C= n.2132C= | |
| 15 | g.42730660G>T | CA392042312 | CDAN1 | c.2112C>A (p.Asp704Glu) c.*1290C>A (n.*1290C>A) c.105C>A (p.Asp35Glu) c.2115C>A (p.Asp705Glu) c.2139C>A (p.Asp713Glu) c.2136C>A (p.Asp712Glu) c.1104C>A (p.Asp368Glu) c.1356C>A (p.Asp452Glu) n.2112C>A n.2169C>A n.2132C>A | dbSNP |
| 15 | g.42730661T>A | CA392042315 | CDAN1 | c.2111A>T (p.Asp704Val) c.*1289A>T (n.*1289A>T) c.104A>T (p.Asp35Val) c.2114A>T (p.Asp705Val) c.2138A>T (p.Asp713Val) c.2135A>T (p.Asp712Val) c.1103A>T (p.Asp368Val) c.1355A>T (p.Asp452Val) n.2111A>T n.2168A>T n.2131A>T | |
| 15 | g.42730661T>C | CA392042325 | CDAN1 | c.2111A>G (p.Asp704Gly) c.*1289A>G (n.*1289A>G) c.104A>G (p.Asp35Gly) c.2114A>G (p.Asp705Gly) c.2138A>G (p.Asp713Gly) c.2135A>G (p.Asp712Gly) c.1103A>G (p.Asp368Gly) c.1355A>G (p.Asp452Gly) n.2111A>G n.2168A>G n.2131A>G | |
| 15 | g.42730661T>G | CA392042327 | CDAN1 | c.2111A>C (p.Asp704Ala) c.*1289A>C (n.*1289A>C) c.104A>C (p.Asp35Ala) c.2114A>C (p.Asp705Ala) c.2138A>C (p.Asp713Ala) c.2135A>C (p.Asp712Ala) c.1103A>C (p.Asp368Ala) c.1355A>C (p.Asp452Ala) n.2111A>C n.2168A>C n.2131A>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42730661T= | CA2172870109 | CDAN1 | c.2111A= (p.Asp704=) c.*1289A= (n.*1289A=) c.104A= (p.Asp35=) c.2114A= (p.Asp705=) c.2138A= (p.Asp713=) c.2135A= (p.Asp712=) c.1103A= (p.Asp368=) c.1355A= (p.Asp452=) n.2111A= n.2168A= n.2131A= | |
| 15 | g.42730662C>A | CA392042330 | CDAN1 | c.2110G>T (p.Asp704Tyr) c.*1288G>T (n.*1288G>T) c.103G>T (p.Asp35Tyr) c.2113G>T (p.Asp705Tyr) c.2137G>T (p.Asp713Tyr) c.2134G>T (p.Asp712Tyr) c.1102G>T (p.Asp368Tyr) c.1354G>T (p.Asp452Tyr) n.2110G>T n.2167G>T n.2130G>T | |
| 15 | g.42730662C= | CA2172870110 | CDAN1 | c.2110G= (p.Asp704=) c.*1288G= (n.*1288G=) c.103G= (p.Asp35=) c.2113G= (p.Asp705=) c.2137G= (p.Asp713=) c.2134G= (p.Asp712=) c.1102G= (p.Asp368=) c.1354G= (p.Asp452=) n.2110G= n.2167G= n.2130G= | |
| 15 | g.42730662C>G | CA392042332 | CDAN1 | c.2110G>C (p.Asp704His) c.*1288G>C (n.*1288G>C) c.103G>C (p.Asp35His) c.2113G>C (p.Asp705His) c.2137G>C (p.Asp713His) c.2134G>C (p.Asp712His) c.1102G>C (p.Asp368His) c.1354G>C (p.Asp452His) n.2110G>C n.2167G>C n.2130G>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42730662C>T | CA392042331 | CDAN1 | c.2110G>A (p.Asp704Asn) c.*1288G>A (n.*1288G>A) c.103G>A (p.Asp35Asn) c.2113G>A (p.Asp705Asn) c.2137G>A (p.Asp713Asn) c.2134G>A (p.Asp712Asn) c.1102G>A (p.Asp368Asn) c.1354G>A (p.Asp452Asn) n.2110G>A n.2167G>A n.2130G>A | ClinVar dbSNP |
| 15 | g.42730663A>C | CA489895214 | CDAN1 | c.2109T>G (p.Ala703=) c.*1287T>G (n.*1287T>G) c.102T>G (p.Ala34=) c.2112T>G (p.Ala704=) c.2136T>G (p.Ala712=) c.2133T>G (p.Ala711=) c.1101T>G (p.Ala367=) c.1353T>G (p.Ala451=) n.2109T>G n.2166T>G n.2129T>G | |
| 15 | g.42730663A>G | CA489895215 | CDAN1 | c.2109T>C (p.Ala703=) c.*1287T>C (n.*1287T>C) c.102T>C (p.Ala34=) c.2112T>C (p.Ala704=) c.2136T>C (p.Ala712=) c.2133T>C (p.Ala711=) c.1101T>C (p.Ala367=) c.1353T>C (p.Ala451=) n.2109T>C n.2166T>C n.2129T>C | |
| 15 | g.42730663A>T | CA489895216 | CDAN1 | c.2109T>A (p.Ala703=) c.*1287T>A (n.*1287T>A) c.102T>A (p.Ala34=) c.2112T>A (p.Ala704=) c.2136T>A (p.Ala712=) c.2133T>A (p.Ala711=) c.1101T>A (p.Ala367=) c.1353T>A (p.Ala451=) n.2109T>A n.2166T>A n.2129T>A | |
| 15 | g.42730664G>A | CA392042334 | CDAN1 | c.2108C>T (p.Ala703Val) c.*1286C>T (n.*1286C>T) c.101C>T (p.Ala34Val) c.2111C>T (p.Ala704Val) c.2135C>T (p.Ala712Val) c.2132C>T (p.Ala711Val) c.1100C>T (p.Ala367Val) c.1352C>T (p.Ala451Val) n.2108C>T n.2165C>T n.2128C>T | COSMIC |
| 15 | g.42730664G>C | CA392042336 | CDAN1 | c.2108C>G (p.Ala703Gly) c.*1286C>G (n.*1286C>G) c.101C>G (p.Ala34Gly) c.2111C>G (p.Ala704Gly) c.2135C>G (p.Ala712Gly) c.2132C>G (p.Ala711Gly) c.1100C>G (p.Ala367Gly) c.1352C>G (p.Ala451Gly) n.2108C>G n.2165C>G n.2128C>G | |
| 15 | g.42730664G>T | CA392042337 | CDAN1 | c.2108C>A (p.Ala703Asp) c.*1286C>A (n.*1286C>A) c.101C>A (p.Ala34Asp) c.2111C>A (p.Ala704Asp) c.2135C>A (p.Ala712Asp) c.2132C>A (p.Ala711Asp) c.1100C>A (p.Ala367Asp) c.1352C>A (p.Ala451Asp) n.2108C>A n.2165C>A n.2128C>A | |
| 15 | g.42730665C>A | CA392042340 | CDAN1 | c.2107G>T (p.Ala703Ser) c.*1285G>T (n.*1285G>T) c.100G>T (p.Ala34Ser) c.2110G>T (p.Ala704Ser) c.2134G>T (p.Ala712Ser) c.2131G>T (p.Ala711Ser) c.1099G>T (p.Ala367Ser) c.1351G>T (p.Ala451Ser) n.2107G>T n.2164G>T n.2127G>T | |
| 15 | g.42730665C>G | CA392042341 | CDAN1 | c.2107G>C (p.Ala703Pro) c.*1285G>C (n.*1285G>C) c.100G>C (p.Ala34Pro) c.2110G>C (p.Ala704Pro) c.2134G>C (p.Ala712Pro) c.2131G>C (p.Ala711Pro) c.1099G>C (p.Ala367Pro) c.1351G>C (p.Ala451Pro) n.2107G>C n.2164G>C n.2127G>C | |
| 15 | g.42730665C>T | CA392042343 | CDAN1 | c.2107G>A (p.Ala703Thr) c.*1285G>A (n.*1285G>A) c.100G>A (p.Ala34Thr) c.2110G>A (p.Ala704Thr) c.2134G>A (p.Ala712Thr) c.2131G>A (p.Ala711Thr) c.1099G>A (p.Ala367Thr) c.1351G>A (p.Ala451Thr) n.2107G>A n.2164G>A n.2127G>A | |
| 15 | g.42730666A>C | CA392042344 | CDAN1 | c.2106T>G (p.Phe702Leu) c.*1284T>G (n.*1284T>G) c.99T>G (p.Phe33Leu) c.2109T>G (p.Phe703Leu) c.2133T>G (p.Phe711Leu) c.2130T>G (p.Phe710Leu) c.1098T>G (p.Phe366Leu) c.1350T>G (p.Phe450Leu) n.2106T>G n.2163T>G n.2126T>G | |
| 15 | g.42730666A>G | CA489895217 | CDAN1 | c.2106T>C (p.Phe702=) c.*1284T>C (n.*1284T>C) c.99T>C (p.Phe33=) c.2109T>C (p.Phe703=) c.2133T>C (p.Phe711=) c.2130T>C (p.Phe710=) c.1098T>C (p.Phe366=) c.1350T>C (p.Phe450=) n.2106T>C n.2163T>C n.2126T>C | gnomAD v4 |
| 15 | g.42730666A>T | CA392042345 | CDAN1 | c.2106T>A (p.Phe702Leu) c.*1284T>A (n.*1284T>A) c.99T>A (p.Phe33Leu) c.2109T>A (p.Phe703Leu) c.2133T>A (p.Phe711Leu) c.2130T>A (p.Phe710Leu) c.1098T>A (p.Phe366Leu) c.1350T>A (p.Phe450Leu) n.2106T>A n.2163T>A n.2126T>A | |
| 15 | g.42730667A>C | CA392042348 | CDAN1 | c.2105T>G (p.Phe702Cys) c.*1283T>G (n.*1283T>G) c.98T>G (p.Phe33Cys) c.2108T>G (p.Phe703Cys) c.2132T>G (p.Phe711Cys) c.2129T>G (p.Phe710Cys) c.1097T>G (p.Phe366Cys) c.1349T>G (p.Phe450Cys) n.2105T>G n.2162T>G n.2125T>G | |
| 15 | g.42730667A>G | CA392042349 | CDAN1 | c.2105T>C (p.Phe702Ser) c.*1283T>C (n.*1283T>C) c.98T>C (p.Phe33Ser) c.2108T>C (p.Phe703Ser) c.2132T>C (p.Phe711Ser) c.2129T>C (p.Phe710Ser) c.1097T>C (p.Phe366Ser) c.1349T>C (p.Phe450Ser) n.2105T>C n.2162T>C n.2125T>C | |
| 15 | g.42730667A>T | CA392042352 | CDAN1 | c.2105T>A (p.Phe702Tyr) c.*1283T>A (n.*1283T>A) c.98T>A (p.Phe33Tyr) c.2108T>A (p.Phe703Tyr) c.2132T>A (p.Phe711Tyr) c.2129T>A (p.Phe710Tyr) c.1097T>A (p.Phe366Tyr) c.1349T>A (p.Phe450Tyr) n.2105T>A n.2162T>A n.2125T>A | |
| 15 | g.42730668A>C | CA392042360 | CDAN1 | c.2104T>G (p.Phe702Val) c.*1282T>G (n.*1282T>G) c.97T>G (p.Phe33Val) c.2107T>G (p.Phe703Val) c.2131T>G (p.Phe711Val) c.2128T>G (p.Phe710Val) c.1096T>G (p.Phe366Val) c.1348T>G (p.Phe450Val) n.2104T>G n.2161T>G n.2124T>G | |
| 15 | g.42730668A>G | CA392042354 | CDAN1 | c.2104T>C (p.Phe702Leu) c.*1282T>C (n.*1282T>C) c.97T>C (p.Phe33Leu) c.2107T>C (p.Phe703Leu) c.2131T>C (p.Phe711Leu) c.2128T>C (p.Phe710Leu) c.1096T>C (p.Phe366Leu) c.1348T>C (p.Phe450Leu) n.2104T>C n.2161T>C n.2124T>C | |
| 15 | g.42730668A>T | CA392042357 | CDAN1 | c.2104T>A (p.Phe702Ile) c.*1282T>A (n.*1282T>A) c.97T>A (p.Phe33Ile) c.2107T>A (p.Phe703Ile) c.2131T>A (p.Phe711Ile) c.2128T>A (p.Phe710Ile) c.1096T>A (p.Phe366Ile) c.1348T>A (p.Phe450Ile) n.2104T>A n.2161T>A n.2124T>A | |
| 15 | g.42730669G>A | CA7515819 | CDAN1 | c.2103C>T (p.Ser701=) c.*1281C>T (n.*1281C>T) c.96C>T (p.Ser32=) c.2106C>T (p.Ser702=) c.2130C>T (p.Ser710=) c.2127C>T (p.Ser709=) c.1095C>T (p.Ser365=) c.1347C>T (p.Ser449=) n.2103C>T n.2160C>T n.2123C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42730669G>C | CA489895218 | CDAN1 | c.2103C>G (p.Ser701=) c.*1281C>G (n.*1281C>G) c.96C>G (p.Ser32=) c.2106C>G (p.Ser702=) c.2130C>G (p.Ser710=) c.2127C>G (p.Ser709=) c.1095C>G (p.Ser365=) c.1347C>G (p.Ser449=) n.2103C>G n.2160C>G n.2123C>G | |
| 15 | g.42730669G= | CA2172870111 | CDAN1 | c.2103C= (p.Ser701=) c.*1281C= (n.*1281C=) c.96C= (p.Ser32=) c.2106C= (p.Ser702=) c.2130C= (p.Ser710=) c.2127C= (p.Ser709=) c.1095C= (p.Ser365=) c.1347C= (p.Ser449=) n.2103C= n.2160C= n.2123C= | |
| 15 | g.42730669G>T | CA489895219 | CDAN1 | c.2103C>A (p.Ser701=) c.*1281C>A (n.*1281C>A) c.96C>A (p.Ser32=) c.2106C>A (p.Ser702=) c.2130C>A (p.Ser710=) c.2127C>A (p.Ser709=) c.1095C>A (p.Ser365=) c.1347C>A (p.Ser449=) n.2103C>A n.2160C>A n.2123C>A | |
| 15 | g.42730670G>A | CA392042367 | CDAN1 | c.2102C>T (p.Ser701Phe) c.*1280C>T (n.*1280C>T) c.95C>T (p.Ser32Phe) c.2105C>T (p.Ser702Phe) c.2129C>T (p.Ser710Phe) c.2126C>T (p.Ser709Phe) c.1094C>T (p.Ser365Phe) c.1346C>T (p.Ser449Phe) n.2102C>T n.2159C>T n.2122C>T | dbSNP gnomAD v4 |
| 15 | g.42730670G>C | CA392042365 | CDAN1 | c.2102C>G (p.Ser701Cys) c.*1280C>G (n.*1280C>G) c.95C>G (p.Ser32Cys) c.2105C>G (p.Ser702Cys) c.2129C>G (p.Ser710Cys) c.2126C>G (p.Ser709Cys) c.1094C>G (p.Ser365Cys) c.1346C>G (p.Ser449Cys) n.2102C>G n.2159C>G n.2122C>G | dbSNP gnomAD v2 gnomAD v4 |