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.1805643A= | CA1433507524 | FGFR3 | c.1625A= (p.Asn542=) c.*675A= (n.*675A=) c.1283A= (p.Asn428=) c.1607A= (p.Asn536=) c.1619A= (p.Asn540=) c.1622A= (p.Asn541=) n.685A= c.1631A= (p.Asn544=) c.1628A= (p.Asn543=) n.2026A= n.2045A= | |
| 4 | g.1805643A>C | CA341415 | FGFR3 | c.1625A>C (p.Asn542Thr) c.*675A>C (n.*675A>C) c.1283A>C (p.Asn428Thr) c.1607A>C (p.Asn536Thr) c.1619A>C (p.Asn540Thr) c.1622A>C (p.Asn541Thr) n.685A>C c.1631A>C (p.Asn544Thr) c.1628A>C (p.Asn543Thr) n.2026A>C n.2045A>C | ClinVar dbSNP gnomAD v4 |
| 4 | g.1805643A>G | CA341420 | FGFR3 | c.1625A>G (p.Asn542Ser) c.*675A>G (n.*675A>G) c.1283A>G (p.Asn428Ser) c.1607A>G (p.Asn536Ser) c.1619A>G (p.Asn540Ser) c.1622A>G (p.Asn541Ser) n.685A>G c.1631A>G (p.Asn544Ser) c.1628A>G (p.Asn543Ser) n.2026A>G n.2045A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1805643A>T | CA355981581 | FGFR3 | c.1625A>T (p.Asn542Ile) c.*675A>T (n.*675A>T) c.1283A>T (p.Asn428Ile) c.1607A>T (p.Asn536Ile) c.1619A>T (p.Asn540Ile) c.1622A>T (p.Asn541Ile) n.685A>T c.1631A>T (p.Asn544Ile) c.1628A>T (p.Asn543Ile) n.2026A>T n.2045A>T | |
| 4 | g.1805644C>A | CA341410 | FGFR3 | c.1626C>A (p.Asn542Lys) c.*676C>A (n.*676C>A) c.1284C>A (p.Asn428Lys) c.1608C>A (p.Asn536Lys) c.1620C>A (p.Asn540Lys) c.1623C>A (p.Asn541Lys) n.686C>A c.1632C>A (p.Asn544Lys) c.1629C>A (p.Asn543Lys) n.2027C>A n.2046C>A | ClinVar dbSNP gnomAD v2 |
| 4 | g.1805644C= | CA1433507525 | FGFR3 | c.1626C= (p.Asn542=) c.*676C= (n.*676C=) c.1284C= (p.Asn428=) c.1608C= (p.Asn536=) c.1620C= (p.Asn540=) c.1623C= (p.Asn541=) n.686C= c.1632C= (p.Asn544=) c.1629C= (p.Asn543=) n.2027C= n.2046C= | |
| 4 | g.1805644C>G | CA341412 | FGFR3 | c.1626C>G (p.Asn542Lys) c.*676C>G (n.*676C>G) c.1284C>G (p.Asn428Lys) c.1608C>G (p.Asn536Lys) c.1620C>G (p.Asn540Lys) c.1623C>G (p.Asn541Lys) n.686C>G c.1632C>G (p.Asn544Lys) c.1629C>G (p.Asn543Lys) n.2027C>G n.2046C>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.1805644C>T | CA2810484 | FGFR3 | c.1626C>T (p.Asn542=) c.*676C>T (n.*676C>T) c.1284C>T (p.Asn428=) c.1608C>T (p.Asn536=) c.1620C>T (p.Asn540=) c.1623C>T (p.Asn541=) n.686C>T c.1632C>T (p.Asn544=) c.1629C>T (p.Asn543=) n.2027C>T n.2046C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1805645C>A | CA355981582 | FGFR3 | c.1627C>A (p.Leu543Met) c.*677C>A (n.*677C>A) c.1285C>A (p.Leu429Met) c.1609C>A (p.Leu537Met) c.1621C>A (p.Leu541Met) c.1624C>A (p.Leu542Met) n.687C>A c.1633C>A (p.Leu545Met) c.1630C>A (p.Leu544Met) n.2028C>A n.2047C>A | |
| 4 | g.1805645C= | CA1433507526 | FGFR3 | c.1627C= (p.Leu543=) c.*677C= (n.*677C=) c.1285C= (p.Leu429=) c.1609C= (p.Leu537=) c.1621C= (p.Leu541=) c.1624C= (p.Leu542=) n.687C= c.1633C= (p.Leu545=) c.1630C= (p.Leu544=) n.2028C= n.2047C= | |
| 4 | g.1805645C>G | CA355981583 | FGFR3 | c.1627C>G (p.Leu543Val) c.*677C>G (n.*677C>G) c.1285C>G (p.Leu429Val) c.1609C>G (p.Leu537Val) c.1621C>G (p.Leu541Val) c.1624C>G (p.Leu542Val) n.687C>G c.1633C>G (p.Leu545Val) c.1630C>G (p.Leu544Val) n.2028C>G n.2047C>G | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.1805645C>T | CA2810485 | FGFR3 | c.1627C>T (p.Leu543=) c.*677C>T (n.*677C>T) c.1285C>T (p.Leu429=) c.1609C>T (p.Leu537=) c.1621C>T (p.Leu541=) c.1624C>T (p.Leu542=) n.687C>T c.1633C>T (p.Leu545=) c.1630C>T (p.Leu544=) n.2028C>T n.2047C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1805646T>A | CA355981585 | FGFR3 | c.1628T>A (p.Leu543Gln) c.*678T>A (n.*678T>A) c.1286T>A (p.Leu429Gln) c.1610T>A (p.Leu537Gln) c.1622T>A (p.Leu541Gln) c.1625T>A (p.Leu542Gln) n.688T>A c.1634T>A (p.Leu545Gln) c.1631T>A (p.Leu544Gln) n.2029T>A n.2048T>A | |
| 4 | g.1805646T>C | CA355981586 | FGFR3 | c.1628T>C (p.Leu543Pro) c.*678T>C (n.*678T>C) c.1286T>C (p.Leu429Pro) c.1610T>C (p.Leu537Pro) c.1622T>C (p.Leu541Pro) c.1625T>C (p.Leu542Pro) n.688T>C c.1634T>C (p.Leu545Pro) c.1631T>C (p.Leu544Pro) n.2029T>C n.2048T>C | |
| 4 | g.1805646T>G | CA355981584 | FGFR3 | c.1628T>G (p.Leu543Arg) c.*678T>G (n.*678T>G) c.1286T>G (p.Leu429Arg) c.1610T>G (p.Leu537Arg) c.1622T>G (p.Leu541Arg) c.1625T>G (p.Leu542Arg) n.688T>G c.1634T>G (p.Leu545Arg) c.1631T>G (p.Leu544Arg) n.2029T>G n.2048T>G | |
| 4 | g.1805647G>A | CA2810487 | FGFR3 | c.1629G>A (p.Leu543=) c.*679G>A (n.*679G>A) c.1287G>A (p.Leu429=) c.1611G>A (p.Leu537=) c.1623G>A (p.Leu541=) c.1626G>A (p.Leu542=) n.689G>A c.1635G>A (p.Leu545=) c.1632G>A (p.Leu544=) n.2030G>A n.2049G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1805647G>C | CA2810486 | FGFR3 | c.1629G>C (p.Leu543=) c.*679G>C (n.*679G>C) c.1287G>C (p.Leu429=) c.1611G>C (p.Leu537=) c.1623G>C (p.Leu541=) c.1626G>C (p.Leu542=) n.689G>C c.1635G>C (p.Leu545=) c.1632G>C (p.Leu544=) n.2030G>C n.2049G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1805647G= | CA1433507527 | FGFR3 | c.1629G= (p.Leu543=) c.*679G= (n.*679G=) c.1287G= (p.Leu429=) c.1611G= (p.Leu537=) c.1623G= (p.Leu541=) c.1626G= (p.Leu542=) n.689G= c.1635G= (p.Leu545=) c.1632G= (p.Leu544=) n.2030G= n.2049G= | |
| 4 | g.1805647G>T | CA438063323 | FGFR3 | c.1629G>T (p.Leu543=) c.*679G>T (n.*679G>T) c.1287G>T (p.Leu429=) c.1611G>T (p.Leu537=) c.1623G>T (p.Leu541=) c.1626G>T (p.Leu542=) n.689G>T c.1635G>T (p.Leu545=) c.1632G>T (p.Leu544=) n.2030G>T n.2049G>T | |
| 4 | g.1805648C>A | CA355981587 | FGFR3 | c.1630C>A (p.Leu544Met) c.*680C>A (n.*680C>A) c.1288C>A (p.Leu430Met) c.1612C>A (p.Leu538Met) c.1624C>A (p.Leu542Met) c.1627C>A (p.Leu543Met) n.690C>A c.1636C>A (p.Leu546Met) c.1633C>A (p.Leu545Met) n.2031C>A n.2050C>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.1805648C= | CA1433507528 | FGFR3 | c.1630C= (p.Leu544=) c.*680C= (n.*680C=) c.1288C= (p.Leu430=) c.1612C= (p.Leu538=) c.1624C= (p.Leu542=) c.1627C= (p.Leu543=) n.690C= c.1636C= (p.Leu546=) c.1633C= (p.Leu545=) n.2031C= n.2050C= | |
| 4 | g.1805648C>G | CA355981588 | FGFR3 | c.1630C>G (p.Leu544Val) c.*680C>G (n.*680C>G) c.1288C>G (p.Leu430Val) c.1612C>G (p.Leu538Val) c.1624C>G (p.Leu542Val) c.1627C>G (p.Leu543Val) n.690C>G c.1636C>G (p.Leu546Val) c.1633C>G (p.Leu545Val) n.2031C>G n.2050C>G | |
| 4 | g.1805648C>T | CA2810488 | FGFR3 | c.1630C>T (p.Leu544=) c.*680C>T (n.*680C>T) c.1288C>T (p.Leu430=) c.1612C>T (p.Leu538=) c.1624C>T (p.Leu542=) c.1627C>T (p.Leu543=) n.690C>T c.1636C>T (p.Leu546=) c.1633C>T (p.Leu545=) n.2031C>T n.2050C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1805649T>A | CA355981589 | FGFR3 | c.1631T>A (p.Leu544Gln) c.*681T>A (n.*681T>A) c.1289T>A (p.Leu430Gln) c.1613T>A (p.Leu538Gln) c.1625T>A (p.Leu542Gln) c.1628T>A (p.Leu543Gln) n.691T>A c.1637T>A (p.Leu546Gln) c.1634T>A (p.Leu545Gln) n.2032T>A n.2051T>A | dbSNP |
| 4 | g.1805649T>C | CA355981590 | FGFR3 | c.1631T>C (p.Leu544Pro) c.*681T>C (n.*681T>C) c.1289T>C (p.Leu430Pro) c.1613T>C (p.Leu538Pro) c.1625T>C (p.Leu542Pro) c.1628T>C (p.Leu543Pro) n.691T>C c.1637T>C (p.Leu546Pro) c.1634T>C (p.Leu545Pro) n.2032T>C n.2051T>C | |
| 4 | g.1805649T>G | CA355981591 | FGFR3 | c.1631T>G (p.Leu544Arg) c.*681T>G (n.*681T>G) c.1289T>G (p.Leu430Arg) c.1613T>G (p.Leu538Arg) c.1625T>G (p.Leu542Arg) c.1628T>G (p.Leu543Arg) n.691T>G c.1637T>G (p.Leu546Arg) c.1634T>G (p.Leu545Arg) n.2032T>G n.2051T>G | dbSNP gnomAD v4 |
| 4 | g.1805649T= | CA1433507529 | FGFR3 | c.1631T= (p.Leu544=) c.*681T= (n.*681T=) c.1289T= (p.Leu430=) c.1613T= (p.Leu538=) c.1625T= (p.Leu542=) c.1628T= (p.Leu543=) n.691T= c.1637T= (p.Leu546=) c.1634T= (p.Leu545=) n.2032T= n.2051T= | |
| 4 | g.1805650G>A | CA438063330 | FGFR3 | c.1632G>A (p.Leu544=) c.*682G>A (n.*682G>A) c.1290G>A (p.Leu430=) c.1614G>A (p.Leu538=) c.1626G>A (p.Leu542=) c.1629G>A (p.Leu543=) n.692G>A c.1638G>A (p.Leu546=) c.1635G>A (p.Leu545=) n.2033G>A n.2052G>A | |
| 4 | g.1805650G>C | CA438063331 | FGFR3 | c.1632G>C (p.Leu544=) c.*682G>C (n.*682G>C) c.1290G>C (p.Leu430=) c.1614G>C (p.Leu538=) c.1626G>C (p.Leu542=) c.1629G>C (p.Leu543=) n.692G>C c.1638G>C (p.Leu546=) c.1635G>C (p.Leu545=) n.2033G>C n.2052G>C | |
| 4 | g.1805650G>T | CA438063329 | FGFR3 | c.1632G>T (p.Leu544=) c.*682G>T (n.*682G>T) c.1290G>T (p.Leu430=) c.1614G>T (p.Leu538=) c.1626G>T (p.Leu542=) c.1629G>T (p.Leu543=) n.692G>T c.1638G>T (p.Leu546=) c.1635G>T (p.Leu545=) n.2033G>T n.2052G>T | |
| 4 | g.1805651G>A | CA355981592 | FGFR3 | c.1633G>A (p.Gly545Ser) c.*683G>A (n.*683G>A) c.1291G>A (p.Gly431Ser) c.1615G>A (p.Gly539Ser) c.1627G>A (p.Gly543Ser) c.1630G>A (p.Gly544Ser) n.693G>A c.1639G>A (p.Gly547Ser) c.1636G>A (p.Gly546Ser) n.2034G>A n.2053G>A | |
| 4 | g.1805651G>C | CA355981593 | FGFR3 | c.1633G>C (p.Gly545Arg) c.*683G>C (n.*683G>C) c.1291G>C (p.Gly431Arg) c.1615G>C (p.Gly539Arg) c.1627G>C (p.Gly543Arg) c.1630G>C (p.Gly544Arg) n.693G>C c.1639G>C (p.Gly547Arg) c.1636G>C (p.Gly546Arg) n.2034G>C n.2053G>C | dbSNP |
| 4 | g.1805651G>T | CA355981594 | FGFR3 | c.1633G>T (p.Gly545Cys) c.*683G>T (n.*683G>T) c.1291G>T (p.Gly431Cys) c.1615G>T (p.Gly539Cys) c.1627G>T (p.Gly543Cys) c.1630G>T (p.Gly544Cys) n.693G>T c.1639G>T (p.Gly547Cys) c.1636G>T (p.Gly546Cys) n.2034G>T n.2053G>T | |
| 4 | g.1805652G>A | CA355981595 | FGFR3 | c.1634G>A (p.Gly545Asp) c.*684G>A (n.*684G>A) c.1292G>A (p.Gly431Asp) c.1616G>A (p.Gly539Asp) c.1628G>A (p.Gly543Asp) c.1631G>A (p.Gly544Asp) n.694G>A c.1640G>A (p.Gly547Asp) c.1637G>A (p.Gly546Asp) n.2035G>A n.2054G>A | |
| 4 | g.1805652G>C | CA355981596 | FGFR3 | c.1634G>C (p.Gly545Ala) c.*684G>C (n.*684G>C) c.1292G>C (p.Gly431Ala) c.1616G>C (p.Gly539Ala) c.1628G>C (p.Gly543Ala) c.1631G>C (p.Gly544Ala) n.694G>C c.1640G>C (p.Gly547Ala) c.1637G>C (p.Gly546Ala) n.2035G>C n.2054G>C | |
| 4 | g.1805652G>T | CA355981597 | FGFR3 | c.1634G>T (p.Gly545Val) c.*684G>T (n.*684G>T) c.1292G>T (p.Gly431Val) c.1616G>T (p.Gly539Val) c.1628G>T (p.Gly543Val) c.1631G>T (p.Gly544Val) n.694G>T c.1640G>T (p.Gly547Val) c.1637G>T (p.Gly546Val) n.2035G>T n.2054G>T | |
| 4 | g.1805653C>A | CA438063333 | FGFR3 | c.1635C>A (p.Gly545=) c.*685C>A (n.*685C>A) c.1293C>A (p.Gly431=) c.1617C>A (p.Gly539=) c.1629C>A (p.Gly543=) c.1632C>A (p.Gly544=) n.695C>A c.1641C>A (p.Gly547=) c.1638C>A (p.Gly546=) n.2036C>A n.2055C>A | dbSNP |
| 4 | g.1805653C= | CA1433507530 | FGFR3 | c.1635C= (p.Gly545=) c.*685C= (n.*685C=) c.1293C= (p.Gly431=) c.1617C= (p.Gly539=) c.1629C= (p.Gly543=) c.1632C= (p.Gly544=) n.695C= c.1641C= (p.Gly547=) c.1638C= (p.Gly546=) n.2036C= n.2055C= | |
| 4 | g.1805653C>G | CA2810490 | FGFR3 | c.1635C>G (p.Gly545=) c.*685C>G (n.*685C>G) c.1293C>G (p.Gly431=) c.1617C>G (p.Gly539=) c.1629C>G (p.Gly543=) c.1632C>G (p.Gly544=) n.695C>G c.1641C>G (p.Gly547=) c.1638C>G (p.Gly546=) n.2036C>G n.2055C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1805653C>T | CA2810489 | FGFR3 | c.1635C>T (p.Gly545=) c.*685C>T (n.*685C>T) c.1293C>T (p.Gly431=) c.1617C>T (p.Gly539=) c.1629C>T (p.Gly543=) c.1632C>T (p.Gly544=) n.695C>T c.1641C>T (p.Gly547=) c.1638C>T (p.Gly546=) n.2036C>T n.2055C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1805654G>A | CA355981598 | FGFR3 | c.1636G>A (p.Ala546Thr) c.*686G>A (n.*686G>A) c.1294G>A (p.Ala432Thr) c.1618G>A (p.Ala540Thr) c.1630G>A (p.Ala544Thr) c.1633G>A (p.Ala545Thr) n.696G>A c.1642G>A (p.Ala548Thr) c.1639G>A (p.Ala547Thr) n.2037G>A n.2056G>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.1805654G>C | CA355981599 | FGFR3 | c.1636G>C (p.Ala546Pro) c.*686G>C (n.*686G>C) c.1294G>C (p.Ala432Pro) c.1618G>C (p.Ala540Pro) c.1630G>C (p.Ala544Pro) c.1633G>C (p.Ala545Pro) n.696G>C c.1642G>C (p.Ala548Pro) c.1639G>C (p.Ala547Pro) n.2037G>C n.2056G>C | |
| 4 | g.1805654G= | CA1433507531 | FGFR3 | c.1636G= (p.Ala546=) c.*686G= (n.*686G=) c.1294G= (p.Ala432=) c.1618G= (p.Ala540=) c.1630G= (p.Ala544=) c.1633G= (p.Ala545=) n.696G= c.1642G= (p.Ala548=) c.1639G= (p.Ala547=) n.2037G= n.2056G= | |
| 4 | g.1805654G>T | CA2810491 | FGFR3 | c.1636G>T (p.Ala546Ser) c.*686G>T (n.*686G>T) c.1294G>T (p.Ala432Ser) c.1618G>T (p.Ala540Ser) c.1630G>T (p.Ala544Ser) c.1633G>T (p.Ala545Ser) n.696G>T c.1642G>T (p.Ala548Ser) c.1639G>T (p.Ala547Ser) n.2037G>T n.2056G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1805655C>A | CA355981600 | FGFR3 | c.1637C>A (p.Ala546Asp) c.*687C>A (n.*687C>A) c.1295C>A (p.Ala432Asp) c.1619C>A (p.Ala540Asp) c.1631C>A (p.Ala544Asp) c.1634C>A (p.Ala545Asp) n.697C>A c.1643C>A (p.Ala548Asp) c.1640C>A (p.Ala547Asp) n.2038C>A n.2057C>A | |
| 4 | g.1805655C>G | CA355981601 | FGFR3 | c.1637C>G (p.Ala546Gly) c.*687C>G (n.*687C>G) c.1295C>G (p.Ala432Gly) c.1619C>G (p.Ala540Gly) c.1631C>G (p.Ala544Gly) c.1634C>G (p.Ala545Gly) n.697C>G c.1643C>G (p.Ala548Gly) c.1640C>G (p.Ala547Gly) n.2038C>G n.2057C>G | dbSNP |
| 4 | g.1805655C>T | CA355981602 | FGFR3 | c.1637C>T (p.Ala546Val) c.*687C>T (n.*687C>T) c.1295C>T (p.Ala432Val) c.1619C>T (p.Ala540Val) c.1631C>T (p.Ala544Val) c.1634C>T (p.Ala545Val) n.697C>T c.1643C>T (p.Ala548Val) c.1640C>T (p.Ala547Val) n.2038C>T n.2057C>T | gnomAD v4 |
| 4 | g.1805656C>A | CA438063339 | FGFR3 | c.1638C>A (p.Ala546=) c.*688C>A (n.*688C>A) c.1296C>A (p.Ala432=) c.1620C>A (p.Ala540=) c.1632C>A (p.Ala544=) c.1635C>A (p.Ala545=) n.698C>A c.1644C>A (p.Ala548=) c.1641C>A (p.Ala547=) n.2039C>A n.2058C>A | |
| 4 | g.1805656C= | CA1433507532 | FGFR3 | c.1638C= (p.Ala546=) c.*688C= (n.*688C=) c.1296C= (p.Ala432=) c.1620C= (p.Ala540=) c.1632C= (p.Ala544=) c.1635C= (p.Ala545=) n.698C= c.1644C= (p.Ala548=) c.1641C= (p.Ala547=) n.2039C= n.2058C= | |
| 4 | g.1805656C>G | CA438063340 | FGFR3 | c.1638C>G (p.Ala546=) c.*688C>G (n.*688C>G) c.1296C>G (p.Ala432=) c.1620C>G (p.Ala540=) c.1632C>G (p.Ala544=) c.1635C>G (p.Ala545=) n.698C>G c.1644C>G (p.Ala548=) c.1641C>G (p.Ala547=) n.2039C>G n.2058C>G | dbSNP gnomAD v2 gnomAD v4 |