UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1805839_1805841del | CA2810558 | FGFR3 | c.1741_1743del (p.Phe581del) c.*791_*793del (n.*791_*793del) c.1399_1401del (p.Phe467del) c.1723_1725del (p.Phe575del) c.1735_1737del (p.Phe579del) c.1738_1740del (p.Phe580del) n.801_803del c.1747_1749del (p.Phe583del) c.1744_1746del (p.Phe582del) n.2142_2144del n.2161_2163del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1805841C>A | CA355981819 | FGFR3 | c.1743C>A (p.Phe581Leu) c.*793C>A (n.*793C>A) c.1401C>A (p.Phe467Leu) c.1725C>A (p.Phe575Leu) c.1737C>A (p.Phe579Leu) c.1740C>A (p.Phe580Leu) n.803C>A c.1749C>A (p.Phe583Leu) c.1746C>A (p.Phe582Leu) n.2144C>A n.2163C>A | |
| 4 | g.1805841C= | CA1433507642 | FGFR3 | c.1743C= (p.Phe581=) c.*793C= (n.*793C=) c.1401C= (p.Phe467=) c.1725C= (p.Phe575=) c.1737C= (p.Phe579=) c.1740C= (p.Phe580=) n.803C= c.1749C= (p.Phe583=) c.1746C= (p.Phe582=) n.2144C= n.2163C= | |
| 4 | g.1805841C>G | CA355981820 | FGFR3 | c.1743C>G (p.Phe581Leu) c.*793C>G (n.*793C>G) c.1401C>G (p.Phe467Leu) c.1725C>G (p.Phe575Leu) c.1737C>G (p.Phe579Leu) c.1740C>G (p.Phe580Leu) n.803C>G c.1749C>G (p.Phe583Leu) c.1746C>G (p.Phe582Leu) n.2144C>G n.2163C>G | gnomAD v4 |
| 4 | g.1805841C>T | CA2810559 | FGFR3 | c.1743C>T (p.Phe581=) c.*793C>T (n.*793C>T) c.1401C>T (p.Phe467=) c.1725C>T (p.Phe575=) c.1737C>T (p.Phe579=) c.1740C>T (p.Phe580=) n.803C>T c.1749C>T (p.Phe583=) c.1746C>T (p.Phe582=) n.2144C>T n.2163C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.1805842G>A | CA2810560 | FGFR3 | c.1744G>A (p.Asp582Asn) c.*794G>A (n.*794G>A) c.1402G>A (p.Asp468Asn) c.1726G>A (p.Asp576Asn) c.1738G>A (p.Asp580Asn) c.1741G>A (p.Asp581Asn) n.804G>A c.1750G>A (p.Asp584Asn) c.1747G>A (p.Asp583Asn) n.2145G>A n.2164G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1805842G>C | CA355981821 | FGFR3 | c.1744G>C (p.Asp582His) c.*794G>C (n.*794G>C) c.1402G>C (p.Asp468His) c.1726G>C (p.Asp576His) c.1738G>C (p.Asp580His) c.1741G>C (p.Asp581His) n.804G>C c.1750G>C (p.Asp584His) c.1747G>C (p.Asp583His) n.2145G>C n.2164G>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1805842G= | CA1433507643 | FGFR3 | c.1744G= (p.Asp582=) c.*794G= (n.*794G=) c.1402G= (p.Asp468=) c.1726G= (p.Asp576=) c.1738G= (p.Asp580=) c.1741G= (p.Asp581=) n.804G= c.1750G= (p.Asp584=) c.1747G= (p.Asp583=) n.2145G= n.2164G= | |
| 4 | g.1805842G>T | CA355981822 | FGFR3 | c.1744G>T (p.Asp582Tyr) c.*794G>T (n.*794G>T) c.1402G>T (p.Asp468Tyr) c.1726G>T (p.Asp576Tyr) c.1738G>T (p.Asp580Tyr) c.1741G>T (p.Asp581Tyr) n.804G>T c.1750G>T (p.Asp584Tyr) c.1747G>T (p.Asp583Tyr) n.2145G>T n.2164G>T | dbSNP |
| 4 | g.1805843A>C | CA355981823 | FGFR3 | c.1745A>C (p.Asp582Ala) c.*795A>C (n.*795A>C) c.1403A>C (p.Asp468Ala) c.1727A>C (p.Asp576Ala) c.1739A>C (p.Asp580Ala) c.1742A>C (p.Asp581Ala) n.805A>C c.1751A>C (p.Asp584Ala) c.1748A>C (p.Asp583Ala) n.2146A>C n.2165A>C | |
| 4 | g.1805843A>G | CA355981824 | FGFR3 | c.1745A>G (p.Asp582Gly) c.*795A>G (n.*795A>G) c.1403A>G (p.Asp468Gly) c.1727A>G (p.Asp576Gly) c.1739A>G (p.Asp580Gly) c.1742A>G (p.Asp581Gly) n.805A>G c.1751A>G (p.Asp584Gly) c.1748A>G (p.Asp583Gly) n.2146A>G n.2165A>G | |
| 4 | g.1805843A>T | CA355981825 | FGFR3 | c.1745A>T (p.Asp582Val) c.*795A>T (n.*795A>T) c.1403A>T (p.Asp468Val) c.1727A>T (p.Asp576Val) c.1739A>T (p.Asp580Val) c.1742A>T (p.Asp581Val) n.805A>T c.1751A>T (p.Asp584Val) c.1748A>T (p.Asp583Val) n.2146A>T n.2165A>T | |
| 4 | g.1805845_1805846dup | CA549266816 | FGFR3 | c.1747_1748dup (p.Cys584ProfsTer?) c.*797_*798dup (n.*797_*798dup) c.1405_1406dup (p.Cys470ProfsTer?) c.1729_1730dup (p.Cys578ProfsTer?) c.1741_1742dup (p.Cys582ProfsTer?) c.1744_1745dup (p.Cys583ProfsTer?) n.807_808dup c.1753_1754dup (p.Cys586ProfsTer?) c.1750_1751dup (p.Cys585ProfsTer?) n.2148_2149dup n.2167_2168dup | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1805844C>A | CA355981826 | FGFR3 | c.1746C>A (p.Asp582Glu) c.*796C>A (n.*796C>A) c.1404C>A (p.Asp468Glu) c.1728C>A (p.Asp576Glu) c.1740C>A (p.Asp580Glu) c.1743C>A (p.Asp581Glu) n.806C>A c.1752C>A (p.Asp584Glu) c.1749C>A (p.Asp583Glu) n.2147C>A n.2166C>A | |
| 4 | g.1805844C= | CA1433507644 | FGFR3 | c.1746C= (p.Asp582=) c.*796C= (n.*796C=) c.1404C= (p.Asp468=) c.1728C= (p.Asp576=) c.1740C= (p.Asp580=) c.1743C= (p.Asp581=) n.806C= c.1752C= (p.Asp584=) c.1749C= (p.Asp583=) n.2147C= n.2166C= | |
| 4 | g.1805844C>G | CA355981827 | FGFR3 | c.1746C>G (p.Asp582Glu) c.*796C>G (n.*796C>G) c.1404C>G (p.Asp468Glu) c.1728C>G (p.Asp576Glu) c.1740C>G (p.Asp580Glu) c.1743C>G (p.Asp581Glu) n.806C>G c.1752C>G (p.Asp584Glu) c.1749C>G (p.Asp583Glu) n.2147C>G n.2166C>G | |
| 4 | g.1805844C>T | CA91257191 | FGFR3 | c.1746C>T (p.Asp582=) c.*796C>T (n.*796C>T) c.1404C>T (p.Asp468=) c.1728C>T (p.Asp576=) c.1740C>T (p.Asp580=) c.1743C>T (p.Asp581=) n.806C>T c.1752C>T (p.Asp584=) c.1749C>T (p.Asp583=) n.2147C>T n.2166C>T | ClinVar dbSNP |
| 4 | g.1805845A= | CA1433507645 | FGFR3 | c.1747A= (p.Thr583=) c.*797A= (n.*797A=) c.1405A= (p.Thr469=) c.1729A= (p.Thr577=) c.1741A= (p.Thr581=) c.1744A= (p.Thr582=) n.807A= c.1753A= (p.Thr585=) c.1750A= (p.Thr584=) n.2148A= n.2167A= | |
| 4 | g.1805845A>C | CA355981830 | FGFR3 | c.1747A>C (p.Thr583Pro) c.*797A>C (n.*797A>C) c.1405A>C (p.Thr469Pro) c.1729A>C (p.Thr577Pro) c.1741A>C (p.Thr581Pro) c.1744A>C (p.Thr582Pro) n.807A>C c.1753A>C (p.Thr585Pro) c.1750A>C (p.Thr584Pro) n.2148A>C n.2167A>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1805845A>G | CA355981829 | FGFR3 | c.1747A>G (p.Thr583Ala) c.*797A>G (n.*797A>G) c.1405A>G (p.Thr469Ala) c.1729A>G (p.Thr577Ala) c.1741A>G (p.Thr581Ala) c.1744A>G (p.Thr582Ala) n.807A>G c.1753A>G (p.Thr585Ala) c.1750A>G (p.Thr584Ala) n.2148A>G n.2167A>G | gnomAD v4 |
| 4 | g.1805845A>T | CA355981828 | FGFR3 | c.1747A>T (p.Thr583Ser) c.*797A>T (n.*797A>T) c.1405A>T (p.Thr469Ser) c.1729A>T (p.Thr577Ser) c.1741A>T (p.Thr581Ser) c.1744A>T (p.Thr582Ser) n.807A>T c.1753A>T (p.Thr585Ser) c.1750A>T (p.Thr584Ser) n.2148A>T n.2167A>T | |
| 4 | g.1805846C>A | CA355981831 | FGFR3 | c.1748C>A (p.Thr583Asn) c.*798C>A (n.*798C>A) c.1406C>A (p.Thr469Asn) c.1730C>A (p.Thr577Asn) c.1742C>A (p.Thr581Asn) c.1745C>A (p.Thr582Asn) n.808C>A c.1754C>A (p.Thr585Asn) c.1751C>A (p.Thr584Asn) n.2149C>A n.2168C>A | |
| 4 | g.1805846C= | CA1433507646 | FGFR3 | c.1748C= (p.Thr583=) c.*798C= (n.*798C=) c.1406C= (p.Thr469=) c.1730C= (p.Thr577=) c.1742C= (p.Thr581=) c.1745C= (p.Thr582=) n.808C= c.1754C= (p.Thr585=) c.1751C= (p.Thr584=) n.2149C= n.2168C= | |
| 4 | g.1805846C>G | CA355981832 | FGFR3 | c.1748C>G (p.Thr583Ser) c.*798C>G (n.*798C>G) c.1406C>G (p.Thr469Ser) c.1730C>G (p.Thr577Ser) c.1742C>G (p.Thr581Ser) c.1745C>G (p.Thr582Ser) n.808C>G c.1754C>G (p.Thr585Ser) c.1751C>G (p.Thr584Ser) n.2149C>G n.2168C>G | gnomAD v4 |
| 4 | g.1805846C>T | CA91257200 | FGFR3 | c.1748C>T (p.Thr583Ile) c.*798C>T (n.*798C>T) c.1406C>T (p.Thr469Ile) c.1730C>T (p.Thr577Ile) c.1742C>T (p.Thr581Ile) c.1745C>T (p.Thr582Ile) n.808C>T c.1754C>T (p.Thr585Ile) c.1751C>T (p.Thr584Ile) n.2149C>T n.2168C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1805847C>A | CA438063093 | FGFR3 | c.1749C>A (p.Thr583=) c.*799C>A (n.*799C>A) c.1407C>A (p.Thr469=) c.1731C>A (p.Thr577=) c.1743C>A (p.Thr581=) c.1746C>A (p.Thr582=) n.809C>A c.1755C>A (p.Thr585=) c.1752C>A (p.Thr584=) n.2150C>A n.2169C>A | |
| 4 | g.1805847C= | CA1433507647 | FGFR3 | c.1749C= (p.Thr583=) c.*799C= (n.*799C=) c.1407C= (p.Thr469=) c.1731C= (p.Thr577=) c.1743C= (p.Thr581=) c.1746C= (p.Thr582=) n.809C= c.1755C= (p.Thr585=) c.1752C= (p.Thr584=) n.2150C= n.2169C= | |
| 4 | g.1805847C>G | CA438063094 | FGFR3 | c.1749C>G (p.Thr583=) c.*799C>G (n.*799C>G) c.1407C>G (p.Thr469=) c.1731C>G (p.Thr577=) c.1743C>G (p.Thr581=) c.1746C>G (p.Thr582=) n.809C>G c.1755C>G (p.Thr585=) c.1752C>G (p.Thr584=) n.2150C>G n.2169C>G | |
| 4 | g.1805847C>T | CA91257205 | FGFR3 | c.1749C>T (p.Thr583=) c.*799C>T (n.*799C>T) c.1407C>T (p.Thr469=) c.1731C>T (p.Thr577=) c.1743C>T (p.Thr581=) c.1746C>T (p.Thr582=) n.809C>T c.1755C>T (p.Thr585=) c.1752C>T (p.Thr584=) n.2150C>T n.2169C>T | dbSNP |
| 4 | g.1805848_1805850dup | CA2669553986 | FGFR3 | c.1750_1752dup (p.Cys584_Lys585insCys) c.*800_*802dup (n.*800_*802dup) c.1408_1410dup (p.Cys470_Lys471insCys) c.1732_1734dup (p.Cys578_Lys579insCys) c.1744_1746dup (p.Cys582_Lys583insCys) c.1747_1749dup (p.Cys583_Lys584insCys) n.810_812dup c.1756_1758dup (p.Cys586_Lys587insCys) c.1753_1755dup (p.Cys585_Lys586insCys) n.2151_2153dup n.2170_2172dup | gnomAD v4 |
| 4 | g.1805848T>A | CA355981833 | FGFR3 | c.1750T>A (p.Cys584Ser) c.*800T>A (n.*800T>A) c.1408T>A (p.Cys470Ser) c.1732T>A (p.Cys578Ser) c.1744T>A (p.Cys582Ser) c.1747T>A (p.Cys583Ser) n.810T>A c.1756T>A (p.Cys586Ser) c.1753T>A (p.Cys585Ser) n.2151T>A n.2170T>A | |
| 4 | g.1805848T>C | CA355981834 | FGFR3 | c.1750T>C (p.Cys584Arg) c.*800T>C (n.*800T>C) c.1408T>C (p.Cys470Arg) c.1732T>C (p.Cys578Arg) c.1744T>C (p.Cys582Arg) c.1747T>C (p.Cys583Arg) n.810T>C c.1756T>C (p.Cys586Arg) c.1753T>C (p.Cys585Arg) n.2151T>C n.2170T>C | |
| 4 | g.1805848T>G | CA355981835 | FGFR3 | c.1750T>G (p.Cys584Gly) c.*800T>G (n.*800T>G) c.1408T>G (p.Cys470Gly) c.1732T>G (p.Cys578Gly) c.1744T>G (p.Cys582Gly) c.1747T>G (p.Cys583Gly) n.810T>G c.1756T>G (p.Cys586Gly) c.1753T>G (p.Cys585Gly) n.2151T>G n.2170T>G | |
| 4 | g.1805849G>A | CA355981836 | FGFR3 | c.1751G>A (p.Cys584Tyr) c.*801G>A (n.*801G>A) c.1409G>A (p.Cys470Tyr) c.1733G>A (p.Cys578Tyr) c.1745G>A (p.Cys582Tyr) c.1748G>A (p.Cys583Tyr) n.811G>A c.1757G>A (p.Cys586Tyr) c.1754G>A (p.Cys585Tyr) n.2152G>A n.2171G>A | dbSNP gnomAD v4 |
| 4 | g.1805849G>C | CA355981838 | FGFR3 | c.1751G>C (p.Cys584Ser) c.*801G>C (n.*801G>C) c.1409G>C (p.Cys470Ser) c.1733G>C (p.Cys578Ser) c.1745G>C (p.Cys582Ser) c.1748G>C (p.Cys583Ser) n.811G>C c.1757G>C (p.Cys586Ser) c.1754G>C (p.Cys585Ser) n.2152G>C n.2171G>C | |
| 4 | g.1805849G>T | CA355981837 | FGFR3 | c.1751G>T (p.Cys584Phe) c.*801G>T (n.*801G>T) c.1409G>T (p.Cys470Phe) c.1733G>T (p.Cys578Phe) c.1745G>T (p.Cys582Phe) c.1748G>T (p.Cys583Phe) n.811G>T c.1757G>T (p.Cys586Phe) c.1754G>T (p.Cys585Phe) n.2152G>T n.2171G>T | COSMIC |
| 4 | g.1805850C>A | CA355981839 | FGFR3 | c.1752C>A (p.Cys584Ter) c.*802C>A (n.*802C>A) c.1410C>A (p.Cys470Ter) c.1734C>A (p.Cys578Ter) c.1746C>A (p.Cys582Ter) c.1749C>A (p.Cys583Ter) n.812C>A c.1758C>A (p.Cys586Ter) c.1755C>A (p.Cys585Ter) n.2153C>A n.2172C>A | |
| 4 | g.1805850C= | CA1433507648 | FGFR3 | c.1752C= (p.Cys584=) c.*802C= (n.*802C=) c.1410C= (p.Cys470=) c.1734C= (p.Cys578=) c.1746C= (p.Cys582=) c.1749C= (p.Cys583=) n.812C= c.1758C= (p.Cys586=) c.1755C= (p.Cys585=) n.2153C= n.2172C= | |
| 4 | g.1805850C>G | CA355981840 | FGFR3 | c.1752C>G (p.Cys584Trp) c.*802C>G (n.*802C>G) c.1410C>G (p.Cys470Trp) c.1734C>G (p.Cys578Trp) c.1746C>G (p.Cys582Trp) c.1749C>G (p.Cys583Trp) n.812C>G c.1758C>G (p.Cys586Trp) c.1755C>G (p.Cys585Trp) n.2153C>G n.2172C>G | |
| 4 | g.1805850C>T | CA438063101 | FGFR3 | c.1752C>T (p.Cys584=) c.*802C>T (n.*802C>T) c.1410C>T (p.Cys470=) c.1734C>T (p.Cys578=) c.1746C>T (p.Cys582=) c.1749C>T (p.Cys583=) n.812C>T c.1758C>T (p.Cys586=) c.1755C>T (p.Cys585=) n.2153C>T n.2172C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 4 | g.1805851A>C | CA355981841 | FGFR3 | c.1753A>C (p.Lys585Gln) c.*803A>C (n.*803A>C) c.1411A>C (p.Lys471Gln) c.1735A>C (p.Lys579Gln) c.1747A>C (p.Lys583Gln) c.1750A>C (p.Lys584Gln) n.813A>C c.1759A>C (p.Lys587Gln) c.1756A>C (p.Lys586Gln) n.2154A>C n.2173A>C | |
| 4 | g.1805851A>G | CA355981842 | FGFR3 | c.1753A>G (p.Lys585Glu) c.*803A>G (n.*803A>G) c.1411A>G (p.Lys471Glu) c.1735A>G (p.Lys579Glu) c.1747A>G (p.Lys583Glu) c.1750A>G (p.Lys584Glu) n.813A>G c.1759A>G (p.Lys587Glu) c.1756A>G (p.Lys586Glu) n.2154A>G n.2173A>G | |
| 4 | g.1805851A>T | CA355981843 | FGFR3 | c.1753A>T (p.Lys585Ter) c.*803A>T (n.*803A>T) c.1411A>T (p.Lys471Ter) c.1735A>T (p.Lys579Ter) c.1747A>T (p.Lys583Ter) c.1750A>T (p.Lys584Ter) n.813A>T c.1759A>T (p.Lys587Ter) c.1756A>T (p.Lys586Ter) n.2154A>T n.2173A>T | |
| 4 | g.1805852A= | CA1433507649 | FGFR3 | c.1754A= (p.Lys585=) c.*804A= (n.*804A=) c.1412A= (p.Lys471=) c.1736A= (p.Lys579=) c.1748A= (p.Lys583=) c.1751A= (p.Lys584=) n.814A= c.1760A= (p.Lys587=) c.1757A= (p.Lys586=) n.2155A= n.2174A= | |
| 4 | g.1805852A>C | CA355981844 | FGFR3 | c.1754A>C (p.Lys585Thr) c.*804A>C (n.*804A>C) c.1412A>C (p.Lys471Thr) c.1736A>C (p.Lys579Thr) c.1748A>C (p.Lys583Thr) c.1751A>C (p.Lys584Thr) n.814A>C c.1760A>C (p.Lys587Thr) c.1757A>C (p.Lys586Thr) n.2155A>C n.2174A>C | |
| 4 | g.1805852A>G | CA2810561 | FGFR3 | c.1754A>G (p.Lys585Arg) c.*804A>G (n.*804A>G) c.1412A>G (p.Lys471Arg) c.1736A>G (p.Lys579Arg) c.1748A>G (p.Lys583Arg) c.1751A>G (p.Lys584Arg) n.814A>G c.1760A>G (p.Lys587Arg) c.1757A>G (p.Lys586Arg) n.2155A>G n.2174A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1805852A>T | CA2810562 | FGFR3 | c.1754A>T (p.Lys585Met) c.*804A>T (n.*804A>T) c.1412A>T (p.Lys471Met) c.1736A>T (p.Lys579Met) c.1748A>T (p.Lys583Met) c.1751A>T (p.Lys584Met) n.814A>T c.1760A>T (p.Lys587Met) c.1757A>T (p.Lys586Met) n.2155A>T n.2174A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1805853G>A | CA438063108 | FGFR3 | c.1755G>A (p.Lys585=) c.*805G>A (n.*805G>A) c.1413G>A (p.Lys471=) c.1737G>A (p.Lys579=) c.1749G>A (p.Lys583=) c.1752G>A (p.Lys584=) n.815G>A c.1761G>A (p.Lys587=) c.1758G>A (p.Lys586=) n.2156G>A n.2175G>A | |
| 4 | g.1805853G>C | CA355981845 | FGFR3 | c.1755G>C (p.Lys585Asn) c.*805G>C (n.*805G>C) c.1413G>C (p.Lys471Asn) c.1737G>C (p.Lys579Asn) c.1749G>C (p.Lys583Asn) c.1752G>C (p.Lys584Asn) n.815G>C c.1761G>C (p.Lys587Asn) c.1758G>C (p.Lys586Asn) n.2156G>C n.2175G>C | dbSNP |
| 4 | g.1805853G>T | CA355981846 | FGFR3 | c.1755G>T (p.Lys585Asn) c.*805G>T (n.*805G>T) c.1413G>T (p.Lys471Asn) c.1737G>T (p.Lys579Asn) c.1749G>T (p.Lys583Asn) c.1752G>T (p.Lys584Asn) n.815G>T c.1761G>T (p.Lys587Asn) c.1758G>T (p.Lys586Asn) n.2156G>T n.2175G>T |