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.68885634A>C | CA376881943 | STOX1 | c.1838A>C (p.Glu613Ala) c.2174A>C (p.Glu725Ala) c.463+3524A>C (n.463+3524A>C) c.663+1175A>C (n.663+1175A>C) c.1508A>C (p.Glu503Ala) | |
| 10 | g.68885634A>G | CA376881941 | STOX1 | c.1838A>G (p.Glu613Gly) c.2174A>G (p.Glu725Gly) c.463+3524A>G (n.463+3524A>G) c.663+1175A>G (n.663+1175A>G) c.1508A>G (p.Glu503Gly) | |
| 10 | g.68885634A>T | CA376881942 | STOX1 | c.1838A>T (p.Glu613Val) c.2174A>T (p.Glu725Val) c.463+3524A>T (n.463+3524A>T) c.663+1175A>T (n.663+1175A>T) c.1508A>T (p.Glu503Val) | |
| 10 | g.68885637del | CA470274105 | STOX1 | c.1841del (p.Asn614MetfsTer3) c.2177del (p.Asn726MetfsTer3) c.463+3527del (n.463+3527del) c.663+1178del (n.663+1178del) c.1511del (p.Asn504MetfsTer3) | COSMIC |
| 10 | g.68885635A>C | CA376881944 | STOX1 | c.1839A>C (p.Glu613Asp) c.2175A>C (p.Glu725Asp) c.463+3525A>C (n.463+3525A>C) c.663+1176A>C (n.663+1176A>C) c.1509A>C (p.Glu503Asp) | |
| 10 | g.68885635A>G | CA470274106 | STOX1 | c.1839A>G (p.Glu613=) c.2175A>G (p.Glu725=) c.463+3525A>G (n.463+3525A>G) c.663+1176A>G (n.663+1176A>G) c.1509A>G (p.Glu503=) | |
| 10 | g.68885635A>T | CA376881945 | STOX1 | c.1839A>T (p.Glu613Asp) c.2175A>T (p.Glu725Asp) c.463+3525A>T (n.463+3525A>T) c.663+1176A>T (n.663+1176A>T) c.1509A>T (p.Glu503Asp) | |
| 10 | g.68885636A>C | CA376881946 | STOX1 | c.1840A>C (p.Asn614His) c.2176A>C (p.Asn726His) c.463+3526A>C (n.463+3526A>C) c.663+1177A>C (n.663+1177A>C) c.1510A>C (p.Asn504His) | |
| 10 | g.68885636A>G | CA376881947 | STOX1 | c.1840A>G (p.Asn614Asp) c.2176A>G (p.Asn726Asp) c.463+3526A>G (n.463+3526A>G) c.663+1177A>G (n.663+1177A>G) c.1510A>G (p.Asn504Asp) | |
| 10 | g.68885636A>T | CA376881948 | STOX1 | c.1840A>T (p.Asn614Tyr) c.2176A>T (p.Asn726Tyr) c.463+3526A>T (n.463+3526A>T) c.663+1177A>T (n.663+1177A>T) c.1510A>T (p.Asn504Tyr) | |
| 10 | g.68885637A>C | CA376881949 | STOX1 | c.1841A>C (p.Asn614Thr) c.2177A>C (p.Asn726Thr) c.463+3527A>C (n.463+3527A>C) c.663+1178A>C (n.663+1178A>C) c.1511A>C (p.Asn504Thr) | gnomAD v4 |
| 10 | g.68885637A>G | CA376881950 | STOX1 | c.1841A>G (p.Asn614Ser) c.2177A>G (p.Asn726Ser) c.463+3527A>G (n.463+3527A>G) c.663+1178A>G (n.663+1178A>G) c.1511A>G (p.Asn504Ser) | |
| 10 | g.68885637A>T | CA376881951 | STOX1 | c.1841A>T (p.Asn614Ile) c.2177A>T (p.Asn726Ile) c.463+3527A>T (n.463+3527A>T) c.663+1178A>T (n.663+1178A>T) c.1511A>T (p.Asn504Ile) | |
| 10 | g.68885638T>A | CA376881952 | STOX1 | c.1842T>A (p.Asn614Lys) c.2178T>A (p.Asn726Lys) c.463+3528T>A (n.463+3528T>A) c.663+1179T>A (n.663+1179T>A) c.1512T>A (p.Asn504Lys) | |
| 10 | g.68885638T>C | CA470274107 | STOX1 | c.1842T>C (p.Asn614=) c.2178T>C (p.Asn726=) c.463+3528T>C (n.463+3528T>C) c.663+1179T>C (n.663+1179T>C) c.1512T>C (p.Asn504=) | |
| 10 | g.68885638T>G | CA376881953 | STOX1 | c.1842T>G (p.Asn614Lys) c.2178T>G (p.Asn726Lys) c.463+3528T>G (n.463+3528T>G) c.663+1179T>G (n.663+1179T>G) c.1512T>G (p.Asn504Lys) | dbSNP |
| 10 | g.68885638T= | CA1917550065 | STOX1 | c.1842T= (p.Asn614=) c.2178T= (p.Asn726=) c.463+3528T= (n.463+3528T=) c.663+1179T= (n.663+1179T=) c.1512T= (p.Asn504=) | |
| 10 | g.68885639G>A | CA376881954 | STOX1 | c.1843G>A (p.Glu615Lys) c.2179G>A (p.Glu727Lys) c.463+3529G>A (n.463+3529G>A) c.663+1180G>A (n.663+1180G>A) c.1513G>A (p.Glu505Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.68885639G>C | CA376881955 | STOX1 | c.1843G>C (p.Glu615Gln) c.2179G>C (p.Glu727Gln) c.463+3529G>C (n.463+3529G>C) c.663+1180G>C (n.663+1180G>C) c.1513G>C (p.Glu505Gln) | |
| 10 | g.68885639G= | CA1917550066 | STOX1 | c.1843G= (p.Glu615=) c.2179G= (p.Glu727=) c.463+3529G= (n.463+3529G=) c.663+1180G= (n.663+1180G=) c.1513G= (p.Glu505=) | |
| 10 | g.68885639G>T | CA376881956 | STOX1 | c.1843G>T (p.Glu615Ter) c.2179G>T (p.Glu727Ter) c.463+3529G>T (n.463+3529G>T) c.663+1180G>T (n.663+1180G>T) c.1513G>T (p.Glu505Ter) | |
| 10 | g.68885640A>C | CA376881959 | STOX1 | c.1844A>C (p.Glu615Ala) c.2180A>C (p.Glu727Ala) c.463+3530A>C (n.463+3530A>C) c.663+1181A>C (n.663+1181A>C) c.1514A>C (p.Glu505Ala) | |
| 10 | g.68885640A>G | CA376881958 | STOX1 | c.1844A>G (p.Glu615Gly) c.2180A>G (p.Glu727Gly) c.463+3530A>G (n.463+3530A>G) c.663+1181A>G (n.663+1181A>G) c.1514A>G (p.Glu505Gly) | |
| 10 | g.68885640A>T | CA376881957 | STOX1 | c.1844A>T (p.Glu615Val) c.2180A>T (p.Glu727Val) c.463+3530A>T (n.463+3530A>T) c.663+1181A>T (n.663+1181A>T) c.1514A>T (p.Glu505Val) | |
| 10 | g.68885641G>A | CA5528237 | STOX1 | c.1845G>A (p.Glu615=) c.2181G>A (p.Glu727=) c.463+3531G>A (n.463+3531G>A) c.663+1182G>A (n.663+1182G>A) c.1515G>A (p.Glu505=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.68885641G>C | CA376881960 | STOX1 | c.1845G>C (p.Glu615Asp) c.2181G>C (p.Glu727Asp) c.463+3531G>C (n.463+3531G>C) c.663+1182G>C (n.663+1182G>C) c.1515G>C (p.Glu505Asp) | |
| 10 | g.68885641G= | CA1917550067 | STOX1 | c.1845G= (p.Glu615=) c.2181G= (p.Glu727=) c.463+3531G= (n.463+3531G=) c.663+1182G= (n.663+1182G=) c.1515G= (p.Glu505=) | |
| 10 | g.68885641G>T | CA376881961 | STOX1 | c.1845G>T (p.Glu615Asp) c.2181G>T (p.Glu727Asp) c.463+3531G>T (n.463+3531G>T) c.663+1182G>T (n.663+1182G>T) c.1515G>T (p.Glu505Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.68885642G>A | CA376881962 | STOX1 | c.1846G>A (p.Val616Ile) c.2182G>A (p.Val728Ile) c.463+3532G>A (n.463+3532G>A) c.663+1183G>A (n.663+1183G>A) c.1516G>A (p.Val506Ile) | |
| 10 | g.68885642G>C | CA376881963 | STOX1 | c.1846G>C (p.Val616Leu) c.2182G>C (p.Val728Leu) c.463+3532G>C (n.463+3532G>C) c.663+1183G>C (n.663+1183G>C) c.1516G>C (p.Val506Leu) | dbSNP |
| 10 | g.68885642G= | CA1917550068 | STOX1 | c.1846G= (p.Val616=) c.2182G= (p.Val728=) c.463+3532G= (n.463+3532G=) c.663+1183G= (n.663+1183G=) c.1516G= (p.Val506=) | |
| 10 | g.68885642G>T | CA376881964 | STOX1 | c.1846G>T (p.Val616Leu) c.2182G>T (p.Val728Leu) c.463+3532G>T (n.463+3532G>T) c.663+1183G>T (n.663+1183G>T) c.1516G>T (p.Val506Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.68885643T>A | CA376881965 | STOX1 | c.1847T>A (p.Val616Glu) c.2183T>A (p.Val728Glu) c.463+3533T>A (n.463+3533T>A) c.663+1184T>A (n.663+1184T>A) c.1517T>A (p.Val506Glu) | |
| 10 | g.68885643T>C | CA208268325 | STOX1 | c.1847T>C (p.Val616Ala) c.2183T>C (p.Val728Ala) c.463+3533T>C (n.463+3533T>C) c.663+1184T>C (n.663+1184T>C) c.1517T>C (p.Val506Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.68885643T>G | CA376881966 | STOX1 | c.1847T>G (p.Val616Gly) c.2183T>G (p.Val728Gly) c.463+3533T>G (n.463+3533T>G) c.663+1184T>G (n.663+1184T>G) c.1517T>G (p.Val506Gly) | |
| 10 | g.68885643T= | CA1917550069 | STOX1 | c.1847T= (p.Val616=) c.2183T= (p.Val728=) c.463+3533T= (n.463+3533T=) c.663+1184T= (n.663+1184T=) c.1517T= (p.Val506=) | |
| 10 | g.68885644A>C | CA470274108 | STOX1 | c.1848A>C (p.Val616=) c.2184A>C (p.Val728=) c.463+3534A>C (n.463+3534A>C) c.663+1185A>C (n.663+1185A>C) c.1518A>C (p.Val506=) | |
| 10 | g.68885644A>G | CA470274109 | STOX1 | c.1848A>G (p.Val616=) c.2184A>G (p.Val728=) c.463+3534A>G (n.463+3534A>G) c.663+1185A>G (n.663+1185A>G) c.1518A>G (p.Val506=) | |
| 10 | g.68885644A>T | CA470274110 | STOX1 | c.1848A>T (p.Val616=) c.2184A>T (p.Val728=) c.463+3534A>T (n.463+3534A>T) c.663+1185A>T (n.663+1185A>T) c.1518A>T (p.Val506=) | |
| 10 | g.68885645A>C | CA376881967 | STOX1 | c.1849A>C (p.Ile617Leu) c.2185A>C (p.Ile729Leu) c.463+3535A>C (n.463+3535A>C) c.663+1186A>C (n.663+1186A>C) c.1519A>C (p.Ile507Leu) | |
| 10 | g.68885645A>G | CA376881968 | STOX1 | c.1849A>G (p.Ile617Val) c.2185A>G (p.Ile729Val) c.463+3535A>G (n.463+3535A>G) c.663+1186A>G (n.663+1186A>G) c.1519A>G (p.Ile507Val) | |
| 10 | g.68885645A>T | CA376881969 | STOX1 | c.1849A>T (p.Ile617Phe) c.2185A>T (p.Ile729Phe) c.463+3535A>T (n.463+3535A>T) c.663+1186A>T (n.663+1186A>T) c.1519A>T (p.Ile507Phe) | |
| 10 | g.68885646T>A | CA376881970 | STOX1 | c.1850T>A (p.Ile617Asn) c.2186T>A (p.Ile729Asn) c.463+3536T>A (n.463+3536T>A) c.663+1187T>A (n.663+1187T>A) c.1520T>A (p.Ile507Asn) | |
| 10 | g.68885646T>C | CA376881971 | STOX1 | c.1850T>C (p.Ile617Thr) c.2186T>C (p.Ile729Thr) c.463+3536T>C (n.463+3536T>C) c.663+1187T>C (n.663+1187T>C) c.1520T>C (p.Ile507Thr) | gnomAD v4 |
| 10 | g.68885646T>G | CA376881972 | STOX1 | c.1850T>G (p.Ile617Ser) c.2186T>G (p.Ile729Ser) c.463+3536T>G (n.463+3536T>G) c.663+1187T>G (n.663+1187T>G) c.1520T>G (p.Ile507Ser) | |
| 10 | g.68885647T>A | CA470274111 | STOX1 | c.1851T>A (p.Ile617=) c.2187T>A (p.Ile729=) c.463+3537T>A (n.463+3537T>A) c.663+1188T>A (n.663+1188T>A) c.1521T>A (p.Ile507=) | |
| 10 | g.68885647T>C | CA470274112 | STOX1 | c.1851T>C (p.Ile617=) c.2187T>C (p.Ile729=) c.463+3537T>C (n.463+3537T>C) c.663+1188T>C (n.663+1188T>C) c.1521T>C (p.Ile507=) | |
| 10 | g.68885647T>G | CA376881973 | STOX1 | c.1851T>G (p.Ile617Met) c.2187T>G (p.Ile729Met) c.463+3537T>G (n.463+3537T>G) c.663+1188T>G (n.663+1188T>G) c.1521T>G (p.Ile507Met) | |
| 10 | g.68885648C>A | CA376881975 | STOX1 | c.1852C>A (p.Pro618Thr) c.2188C>A (p.Pro730Thr) c.463+3538C>A (n.463+3538C>A) c.663+1189C>A (n.663+1189C>A) c.1522C>A (p.Pro508Thr) | |
| 10 | g.68885648C= | CA1917550070 | STOX1 | c.1852C= (p.Pro618=) c.2188C= (p.Pro730=) c.463+3538C= (n.463+3538C=) c.663+1189C= (n.663+1189C=) c.1522C= (p.Pro508=) |