Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.1805566C>ACA438063177FGFR3c.1548C>A (p.Ala516=)
c.*598C>A (n.*598C>A)
c.1206C>A (p.Ala402=)
c.1530C>A (p.Ala510=)
c.1542C>A (p.Ala514=)
c.1545C>A (p.Ala515=)
n.608C>A
c.1554C>A (p.Ala518=)
c.1551C>A (p.Ala517=)
n.1949C>A
n.1968C>A
4g.1805566C=CA1433507485FGFR3c.1548C= (p.Ala516=)
c.*598C= (n.*598C=)
c.1206C= (p.Ala402=)
c.1530C= (p.Ala510=)
c.1542C= (p.Ala514=)
c.1545C= (p.Ala515=)
n.608C=
c.1554C= (p.Ala518=)
c.1551C= (p.Ala517=)
n.1949C=
n.1968C=
4g.1805566C>GCA438063179FGFR3c.1548C>G (p.Ala516=)
c.*598C>G (n.*598C>G)
c.1206C>G (p.Ala402=)
c.1530C>G (p.Ala510=)
c.1542C>G (p.Ala514=)
c.1545C>G (p.Ala515=)
n.608C>G
c.1554C>G (p.Ala518=)
c.1551C>G (p.Ala517=)
n.1949C>G
n.1968C>G
4g.1805566C>TCA438063176FGFR3c.1548C>T (p.Ala516=)
c.*598C>T (n.*598C>T)
c.1206C>T (p.Ala402=)
c.1530C>T (p.Ala510=)
c.1542C>T (p.Ala514=)
c.1545C>T (p.Ala515=)
n.608C>T
c.1554C>T (p.Ala518=)
c.1551C>T (p.Ala517=)
n.1949C>T
n.1968C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1805567A>CCA355981410FGFR3c.1549A>C (p.Thr517Pro)
c.*599A>C (n.*599A>C)
c.1207A>C (p.Thr403Pro)
c.1531A>C (p.Thr511Pro)
c.1543A>C (p.Thr515Pro)
c.1546A>C (p.Thr516Pro)
n.609A>C
c.1555A>C (p.Thr519Pro)
c.1552A>C (p.Thr518Pro)
n.1950A>C
n.1969A>C
4g.1805567A>GCA355981411FGFR3c.1549A>G (p.Thr517Ala)
c.*599A>G (n.*599A>G)
c.1207A>G (p.Thr403Ala)
c.1531A>G (p.Thr511Ala)
c.1543A>G (p.Thr515Ala)
c.1546A>G (p.Thr516Ala)
n.609A>G
c.1555A>G (p.Thr519Ala)
c.1552A>G (p.Thr518Ala)
n.1950A>G
n.1969A>G
4g.1805567A>TCA355981412FGFR3c.1549A>T (p.Thr517Ser)
c.*599A>T (n.*599A>T)
c.1207A>T (p.Thr403Ser)
c.1531A>T (p.Thr511Ser)
c.1543A>T (p.Thr515Ser)
c.1546A>T (p.Thr516Ser)
n.609A>T
c.1555A>T (p.Thr519Ser)
c.1552A>T (p.Thr518Ser)
n.1950A>T
n.1969A>T
4g.1805568C>ACA355981413FGFR3c.1550C>A (p.Thr517Asn)
c.*600C>A (n.*600C>A)
c.1208C>A (p.Thr403Asn)
c.1532C>A (p.Thr511Asn)
c.1544C>A (p.Thr515Asn)
c.1547C>A (p.Thr516Asn)
n.610C>A
c.1556C>A (p.Thr519Asn)
c.1553C>A (p.Thr518Asn)
n.1951C>A
n.1970C>A
4g.1805568C=CA1433507486FGFR3c.1550C= (p.Thr517=)
c.*600C= (n.*600C=)
c.1208C= (p.Thr403=)
c.1532C= (p.Thr511=)
c.1544C= (p.Thr515=)
c.1547C= (p.Thr516=)
n.610C=
c.1556C= (p.Thr519=)
c.1553C= (p.Thr518=)
n.1951C=
n.1970C=
4g.1805568C>GCA355981414FGFR3c.1550C>G (p.Thr517Ser)
c.*600C>G (n.*600C>G)
c.1208C>G (p.Thr403Ser)
c.1532C>G (p.Thr511Ser)
c.1544C>G (p.Thr515Ser)
c.1547C>G (p.Thr516Ser)
n.610C>G
c.1556C>G (p.Thr519Ser)
c.1553C>G (p.Thr518Ser)
n.1951C>G
n.1970C>G
 dbSNP gnomAD v2 gnomAD v4
4g.1805568C>TCA355981415FGFR3c.1550C>T (p.Thr517Ile)
c.*600C>T (n.*600C>T)
c.1208C>T (p.Thr403Ile)
c.1532C>T (p.Thr511Ile)
c.1544C>T (p.Thr515Ile)
c.1547C>T (p.Thr516Ile)
n.610C>T
c.1556C>T (p.Thr519Ile)
c.1553C>T (p.Thr518Ile)
n.1951C>T
n.1970C>T
 ClinVar gnomAD v4
4g.1805569T>ACA438063183FGFR3c.1551T>A (p.Thr517=)
c.*601T>A (n.*601T>A)
c.1209T>A (p.Thr403=)
c.1533T>A (p.Thr511=)
c.1545T>A (p.Thr515=)
c.1548T>A (p.Thr516=)
n.611T>A
c.1557T>A (p.Thr519=)
c.1554T>A (p.Thr518=)
n.1952T>A
n.1971T>A
4g.1805569T>CCA438063184FGFR3c.1551T>C (p.Thr517=)
c.*601T>C (n.*601T>C)
c.1209T>C (p.Thr403=)
c.1533T>C (p.Thr511=)
c.1545T>C (p.Thr515=)
c.1548T>C (p.Thr516=)
n.611T>C
c.1557T>C (p.Thr519=)
c.1554T>C (p.Thr518=)
n.1952T>C
n.1971T>C
4g.1805569T>GCA438063185FGFR3c.1551T>G (p.Thr517=)
c.*601T>G (n.*601T>G)
c.1209T>G (p.Thr403=)
c.1533T>G (p.Thr511=)
c.1545T>G (p.Thr515=)
c.1548T>G (p.Thr516=)
n.611T>G
c.1557T>G (p.Thr519=)
c.1554T>G (p.Thr518=)
n.1952T>G
n.1971T>G
4g.1805570G>ACA355981416FGFR3c.1552G>A (p.Asp518Asn)
c.*602G>A (n.*602G>A)
c.1210G>A (p.Asp404Asn)
c.1534G>A (p.Asp512Asn)
c.1546G>A (p.Asp516Asn)
c.1549G>A (p.Asp517Asn)
n.612G>A
c.1558G>A (p.Asp520Asn)
c.1555G>A (p.Asp519Asn)
n.1953G>A
n.1972G>A
 gnomAD v4
4g.1805570G>CCA2810468FGFR3c.1552G>C (p.Asp518His)
c.*602G>C (n.*602G>C)
c.1210G>C (p.Asp404His)
c.1534G>C (p.Asp512His)
c.1546G>C (p.Asp516His)
c.1549G>C (p.Asp517His)
n.612G>C
c.1558G>C (p.Asp520His)
c.1555G>C (p.Asp519His)
n.1953G>C
n.1972G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.1805570G=CA1433507487FGFR3c.1552G= (p.Asp518=)
c.*602G= (n.*602G=)
c.1210G= (p.Asp404=)
c.1534G= (p.Asp512=)
c.1546G= (p.Asp516=)
c.1549G= (p.Asp517=)
n.612G=
c.1558G= (p.Asp520=)
c.1555G= (p.Asp519=)
n.1953G=
n.1972G=
4g.1805570G>TCA2810469FGFR3c.1552G>T (p.Asp518Tyr)
c.*602G>T (n.*602G>T)
c.1210G>T (p.Asp404Tyr)
c.1534G>T (p.Asp512Tyr)
c.1546G>T (p.Asp516Tyr)
c.1549G>T (p.Asp517Tyr)
n.612G>T
c.1558G>T (p.Asp520Tyr)
c.1555G>T (p.Asp519Tyr)
n.1953G>T
n.1972G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1805571A=CA1433507488FGFR3c.1553A= (p.Asp518=)
c.*603A= (n.*603A=)
c.1211A= (p.Asp404=)
c.1535A= (p.Asp512=)
c.1547A= (p.Asp516=)
c.1550A= (p.Asp517=)
n.613A=
c.1559A= (p.Asp520=)
c.1556A= (p.Asp519=)
n.1954A=
n.1973A=
4g.1805571A>CCA2810470FGFR3c.1553A>C (p.Asp518Ala)
c.*603A>C (n.*603A>C)
c.1211A>C (p.Asp404Ala)
c.1535A>C (p.Asp512Ala)
c.1547A>C (p.Asp516Ala)
c.1550A>C (p.Asp517Ala)
n.613A>C
c.1559A>C (p.Asp520Ala)
c.1556A>C (p.Asp519Ala)
n.1954A>C
n.1973A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1805571A>GCA91256690FGFR3c.1553A>G (p.Asp518Gly)
c.*603A>G (n.*603A>G)
c.1211A>G (p.Asp404Gly)
c.1535A>G (p.Asp512Gly)
c.1547A>G (p.Asp516Gly)
c.1550A>G (p.Asp517Gly)
n.613A>G
c.1559A>G (p.Asp520Gly)
c.1556A>G (p.Asp519Gly)
n.1954A>G
n.1973A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.1805571A>TCA355981417FGFR3c.1553A>T (p.Asp518Val)
c.*603A>T (n.*603A>T)
c.1211A>T (p.Asp404Val)
c.1535A>T (p.Asp512Val)
c.1547A>T (p.Asp516Val)
c.1550A>T (p.Asp517Val)
n.613A>T
c.1559A>T (p.Asp520Val)
c.1556A>T (p.Asp519Val)
n.1954A>T
n.1973A>T
 dbSNP gnomAD v4
4g.1805572C>ACA355981419FGFR3c.1554C>A (p.Asp518Glu)
c.*604C>A (n.*604C>A)
c.1212C>A (p.Asp404Glu)
c.1536C>A (p.Asp512Glu)
c.1548C>A (p.Asp516Glu)
c.1551C>A (p.Asp517Glu)
n.614C>A
c.1560C>A (p.Asp520Glu)
c.1557C>A (p.Asp519Glu)
n.1955C>A
n.1974C>A
 dbSNP gnomAD v3 gnomAD v4
4g.1805572C=CA1433507489FGFR3c.1554C= (p.Asp518=)
c.*604C= (n.*604C=)
c.1212C= (p.Asp404=)
c.1536C= (p.Asp512=)
c.1548C= (p.Asp516=)
c.1551C= (p.Asp517=)
n.614C=
c.1560C= (p.Asp520=)
c.1557C= (p.Asp519=)
n.1955C=
n.1974C=
4g.1805572C>GCA355981418FGFR3c.1554C>G (p.Asp518Glu)
c.*604C>G (n.*604C>G)
c.1212C>G (p.Asp404Glu)
c.1536C>G (p.Asp512Glu)
c.1548C>G (p.Asp516Glu)
c.1551C>G (p.Asp517Glu)
n.614C>G
c.1560C>G (p.Asp520Glu)
c.1557C>G (p.Asp519Glu)
n.1955C>G
n.1974C>G
4g.1805572C>TCA438063199FGFR3c.1554C>T (p.Asp518=)
c.*604C>T (n.*604C>T)
c.1212C>T (p.Asp404=)
c.1536C>T (p.Asp512=)
c.1548C>T (p.Asp516=)
c.1551C>T (p.Asp517=)
n.614C>T
c.1560C>T (p.Asp520=)
c.1557C>T (p.Asp519=)
n.1955C>T
n.1974C>T
 gnomAD v4
4g.1805573A=CA1433507490FGFR3c.1555A= (p.Lys519=)
c.*605A= (n.*605A=)
c.1213A= (p.Lys405=)
c.1537A= (p.Lys513=)
c.1549A= (p.Lys517=)
c.1552A= (p.Lys518=)
n.615A=
c.1561A= (p.Lys521=)
c.1558A= (p.Lys520=)
n.1956A=
n.1975A=
4g.1805573A>CCA91256691FGFR3c.1555A>C (p.Lys519Gln)
c.*605A>C (n.*605A>C)
c.1213A>C (p.Lys405Gln)
c.1537A>C (p.Lys513Gln)
c.1549A>C (p.Lys517Gln)
c.1552A>C (p.Lys518Gln)
n.615A>C
c.1561A>C (p.Lys521Gln)
c.1558A>C (p.Lys520Gln)
n.1956A>C
n.1975A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1805573A>GCA91256695FGFR3c.1555A>G (p.Lys519Glu)
c.*605A>G (n.*605A>G)
c.1213A>G (p.Lys405Glu)
c.1537A>G (p.Lys513Glu)
c.1549A>G (p.Lys517Glu)
c.1552A>G (p.Lys518Glu)
n.615A>G
c.1561A>G (p.Lys521Glu)
c.1558A>G (p.Lys520Glu)
n.1956A>G
n.1975A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1805573A>TCA355981420FGFR3c.1555A>T (p.Lys519Ter)
c.*605A>T (n.*605A>T)
c.1213A>T (p.Lys405Ter)
c.1537A>T (p.Lys513Ter)
c.1549A>T (p.Lys517Ter)
c.1552A>T (p.Lys518Ter)
n.615A>T
c.1561A>T (p.Lys521Ter)
c.1558A>T (p.Lys520Ter)
n.1956A>T
n.1975A>T
4g.1805574dupCA645526897FGFR3c.1556dup (p.Asp520GlyfsTer8)
c.*606dup (n.*606dup)
c.1214dup (p.Asp406GlyfsTer8)
c.1538dup (p.Asp514GlyfsTer8)
c.1550dup (p.Asp518GlyfsTer8)
c.1553dup (p.Asp519GlyfsTer8)
n.616dup
c.1562dup (p.Asp522GlyfsTer8)
c.1559dup (p.Asp521GlyfsTer8)
n.1957dup
n.1976dup
 COSMIC COSMIC
4g.1805574A=CA1433507491FGFR3c.1556A= (p.Lys519=)
c.*606A= (n.*606A=)
c.1214A= (p.Lys405=)
c.1538A= (p.Lys513=)
c.1550A= (p.Lys517=)
c.1553A= (p.Lys518=)
n.616A=
c.1562A= (p.Lys521=)
c.1559A= (p.Lys520=)
n.1957A=
n.1976A=
4g.1805574A>CCA355981421FGFR3c.1556A>C (p.Lys519Thr)
c.*606A>C (n.*606A>C)
c.1214A>C (p.Lys405Thr)
c.1538A>C (p.Lys513Thr)
c.1550A>C (p.Lys517Thr)
c.1553A>C (p.Lys518Thr)
n.616A>C
c.1562A>C (p.Lys521Thr)
c.1559A>C (p.Lys520Thr)
n.1957A>C
n.1976A>C
4g.1805574A>GCA239727FGFR3c.1556A>G (p.Lys519Arg)
c.*606A>G (n.*606A>G)
c.1214A>G (p.Lys405Arg)
c.1538A>G (p.Lys513Arg)
c.1550A>G (p.Lys517Arg)
c.1553A>G (p.Lys518Arg)
n.616A>G
c.1562A>G (p.Lys521Arg)
c.1559A>G (p.Lys520Arg)
n.1957A>G
n.1976A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1805574A>TCA355981422FGFR3c.1556A>T (p.Lys519Met)
c.*606A>T (n.*606A>T)
c.1214A>T (p.Lys405Met)
c.1538A>T (p.Lys513Met)
c.1550A>T (p.Lys517Met)
c.1553A>T (p.Lys518Met)
n.616A>T
c.1562A>T (p.Lys521Met)
c.1559A>T (p.Lys520Met)
n.1957A>T
n.1976A>T
4g.1805575G>ACA2810471FGFR3c.1557G>A (p.Lys519=)
c.*607G>A (n.*607G>A)
c.1215G>A (p.Lys405=)
c.1539G>A (p.Lys513=)
c.1551G>A (p.Lys517=)
c.1554G>A (p.Lys518=)
n.617G>A
c.1563G>A (p.Lys521=)
c.1560G>A (p.Lys520=)
n.1958G>A
n.1977G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1805575G>CCA355981423FGFR3c.1557G>C (p.Lys519Asn)
c.*607G>C (n.*607G>C)
c.1215G>C (p.Lys405Asn)
c.1539G>C (p.Lys513Asn)
c.1551G>C (p.Lys517Asn)
c.1554G>C (p.Lys518Asn)
n.617G>C
c.1563G>C (p.Lys521Asn)
c.1560G>C (p.Lys520Asn)
n.1958G>C
n.1977G>C
4g.1805575G=CA1433507492FGFR3c.1557G= (p.Lys519=)
c.*607G= (n.*607G=)
c.1215G= (p.Lys405=)
c.1539G= (p.Lys513=)
c.1551G= (p.Lys517=)
c.1554G= (p.Lys518=)
n.617G=
c.1563G= (p.Lys521=)
c.1560G= (p.Lys520=)
n.1958G=
n.1977G=
4g.1805575G>TCA355981424FGFR3c.1557G>T (p.Lys519Asn)
c.*607G>T (n.*607G>T)
c.1215G>T (p.Lys405Asn)
c.1539G>T (p.Lys513Asn)
c.1551G>T (p.Lys517Asn)
c.1554G>T (p.Lys518Asn)
n.617G>T
c.1563G>T (p.Lys521Asn)
c.1560G>T (p.Lys520Asn)
n.1958G>T
n.1977G>T
4g.1805576G>ACA355981425FGFR3c.1558G>A (p.Asp520Asn)
c.*608G>A (n.*608G>A)
c.1216G>A (p.Asp406Asn)
c.1540G>A (p.Asp514Asn)
c.1552G>A (p.Asp518Asn)
c.1555G>A (p.Asp519Asn)
n.618G>A
c.1564G>A (p.Asp522Asn)
c.1561G>A (p.Asp521Asn)
n.1959G>A
n.1978G>A
4g.1805576G>CCA355981426FGFR3c.1558G>C (p.Asp520His)
c.*608G>C (n.*608G>C)
c.1216G>C (p.Asp406His)
c.1540G>C (p.Asp514His)
c.1552G>C (p.Asp518His)
c.1555G>C (p.Asp519His)
n.618G>C
c.1564G>C (p.Asp522His)
c.1561G>C (p.Asp521His)
n.1959G>C
n.1978G>C
4g.1805576G>TCA355981427FGFR3c.1558G>T (p.Asp520Tyr)
c.*608G>T (n.*608G>T)
c.1216G>T (p.Asp406Tyr)
c.1540G>T (p.Asp514Tyr)
c.1552G>T (p.Asp518Tyr)
c.1555G>T (p.Asp519Tyr)
n.618G>T
c.1564G>T (p.Asp522Tyr)
c.1561G>T (p.Asp521Tyr)
n.1959G>T
n.1978G>T
4g.1805577A>CCA355981430FGFR3c.1559A>C (p.Asp520Ala)
c.*609A>C (n.*609A>C)
c.1217A>C (p.Asp406Ala)
c.1541A>C (p.Asp514Ala)
c.1553A>C (p.Asp518Ala)
c.1556A>C (p.Asp519Ala)
n.619A>C
c.1565A>C (p.Asp522Ala)
c.1562A>C (p.Asp521Ala)
n.1960A>C
n.1979A>C
4g.1805577A>GCA355981429FGFR3c.1559A>G (p.Asp520Gly)
c.*609A>G (n.*609A>G)
c.1217A>G (p.Asp406Gly)
c.1541A>G (p.Asp514Gly)
c.1553A>G (p.Asp518Gly)
c.1556A>G (p.Asp519Gly)
n.619A>G
c.1565A>G (p.Asp522Gly)
c.1562A>G (p.Asp521Gly)
n.1960A>G
n.1979A>G
4g.1805577A>TCA355981428FGFR3c.1559A>T (p.Asp520Val)
c.*609A>T (n.*609A>T)
c.1217A>T (p.Asp406Val)
c.1541A>T (p.Asp514Val)
c.1553A>T (p.Asp518Val)
c.1556A>T (p.Asp519Val)
n.619A>T
c.1565A>T (p.Asp522Val)
c.1562A>T (p.Asp521Val)
n.1960A>T
n.1979A>T
4g.1805578C>ACA355981431FGFR3c.1560C>A (p.Asp520Glu)
c.*610C>A (n.*610C>A)
c.1218C>A (p.Asp406Glu)
c.1542C>A (p.Asp514Glu)
c.1554C>A (p.Asp518Glu)
c.1557C>A (p.Asp519Glu)
n.620C>A
c.1566C>A (p.Asp522Glu)
c.1563C>A (p.Asp521Glu)
n.1961C>A
n.1980C>A
4g.1805578C>GCA355981432FGFR3c.1560C>G (p.Asp520Glu)
c.*610C>G (n.*610C>G)
c.1218C>G (p.Asp406Glu)
c.1542C>G (p.Asp514Glu)
c.1554C>G (p.Asp518Glu)
c.1557C>G (p.Asp519Glu)
n.620C>G
c.1566C>G (p.Asp522Glu)
c.1563C>G (p.Asp521Glu)
n.1961C>G
n.1980C>G
4g.1805578C>TCA438063219FGFR3c.1560C>T (p.Asp520=)
c.*610C>T (n.*610C>T)
c.1218C>T (p.Asp406=)
c.1542C>T (p.Asp514=)
c.1554C>T (p.Asp518=)
c.1557C>T (p.Asp519=)
n.620C>T
c.1566C>T (p.Asp522=)
c.1563C>T (p.Asp521=)
n.1961C>T
n.1980C>T
 gnomAD v4
4g.1805579C>ACA355981433FGFR3c.1561C>A (p.Leu521Met)
c.*611C>A (n.*611C>A)
c.1219C>A (p.Leu407Met)
c.1543C>A (p.Leu515Met)
c.1555C>A (p.Leu519Met)
c.1558C>A (p.Leu520Met)
n.621C>A
c.1567C>A (p.Leu523Met)
c.1564C>A (p.Leu522Met)
n.1962C>A
n.1981C>A
4g.1805579C=CA1433507493FGFR3c.1561C= (p.Leu521=)
c.*611C= (n.*611C=)
c.1219C= (p.Leu407=)
c.1543C= (p.Leu515=)
c.1555C= (p.Leu519=)
c.1558C= (p.Leu520=)
n.621C=
c.1567C= (p.Leu523=)
c.1564C= (p.Leu522=)
n.1962C=
n.1981C=
4g.1805579C>GCA355981434FGFR3c.1561C>G (p.Leu521Val)
c.*611C>G (n.*611C>G)
c.1219C>G (p.Leu407Val)
c.1543C>G (p.Leu515Val)
c.1555C>G (p.Leu519Val)
c.1558C>G (p.Leu520Val)
n.621C>G
c.1567C>G (p.Leu523Val)
c.1564C>G (p.Leu522Val)
n.1962C>G
n.1981C>G
4g.1805579C>TCA438063221FGFR3c.1561C>T (p.Leu521=)
c.*611C>T (n.*611C>T)
c.1219C>T (p.Leu407=)
c.1543C>T (p.Leu515=)
c.1555C>T (p.Leu519=)
c.1558C>T (p.Leu520=)
n.621C>T
c.1567C>T (p.Leu523=)
c.1564C>T (p.Leu522=)
n.1962C>T
n.1981C>T
 dbSNP gnomAD v3 gnomAD v4
4g.1805580T>ACA355981435FGFR3c.1562T>A (p.Leu521Gln)
c.*612T>A (n.*612T>A)
c.1220T>A (p.Leu407Gln)
c.1544T>A (p.Leu515Gln)
c.1556T>A (p.Leu519Gln)
c.1559T>A (p.Leu520Gln)
n.622T>A
c.1568T>A (p.Leu523Gln)
c.1565T>A (p.Leu522Gln)
n.1963T>A
n.1982T>A
4g.1805580T>CCA355981436FGFR3c.1562T>C (p.Leu521Pro)
c.*612T>C (n.*612T>C)
c.1220T>C (p.Leu407Pro)
c.1544T>C (p.Leu515Pro)
c.1556T>C (p.Leu519Pro)
c.1559T>C (p.Leu520Pro)
n.622T>C
c.1568T>C (p.Leu523Pro)
c.1565T>C (p.Leu522Pro)
n.1963T>C
n.1982T>C
4g.1805580T>GCA355981437FGFR3c.1562T>G (p.Leu521Arg)
c.*612T>G (n.*612T>G)
c.1220T>G (p.Leu407Arg)
c.1544T>G (p.Leu515Arg)
c.1556T>G (p.Leu519Arg)
c.1559T>G (p.Leu520Arg)
n.622T>G
c.1568T>G (p.Leu523Arg)
c.1565T>G (p.Leu522Arg)
n.1963T>G
n.1982T>G
4g.1805581G>ACA438063222FGFR3c.1563G>A (p.Leu521=)
c.*613G>A (n.*613G>A)
c.1221G>A (p.Leu407=)
c.1545G>A (p.Leu515=)
c.1557G>A (p.Leu519=)
c.1560G>A (p.Leu520=)
n.623G>A
c.1569G>A (p.Leu523=)
c.1566G>A (p.Leu522=)
n.1964G>A
n.1983G>A
 dbSNP gnomAD v2 gnomAD v4
4g.1805581G>CCA438063224FGFR3c.1563G>C (p.Leu521=)
c.*613G>C (n.*613G>C)
c.1221G>C (p.Leu407=)
c.1545G>C (p.Leu515=)
c.1557G>C (p.Leu519=)
c.1560G>C (p.Leu520=)
n.623G>C
c.1569G>C (p.Leu523=)
c.1566G>C (p.Leu522=)
n.1964G>C
n.1983G>C
4g.1805581G=CA1433507494FGFR3c.1563G= (p.Leu521=)
c.*613G= (n.*613G=)
c.1221G= (p.Leu407=)
c.1545G= (p.Leu515=)
c.1557G= (p.Leu519=)
c.1560G= (p.Leu520=)
n.623G=
c.1569G= (p.Leu523=)
c.1566G= (p.Leu522=)
n.1964G=
n.1983G=
4g.1805581G>TCA438063223FGFR3c.1563G>T (p.Leu521=)
c.*613G>T (n.*613G>T)
c.1221G>T (p.Leu407=)
c.1545G>T (p.Leu515=)
c.1557G>T (p.Leu519=)
c.1560G>T (p.Leu520=)
n.623G>T
c.1569G>T (p.Leu523=)
c.1566G>T (p.Leu522=)
n.1964G>T
n.1983G>T
4g.1805582T>ACA355981438FGFR3c.1564T>A (p.Ser522Thr)
c.*614T>A (n.*614T>A)
c.1222T>A (p.Ser408Thr)
c.1546T>A (p.Ser516Thr)
c.1558T>A (p.Ser520Thr)
c.1561T>A (p.Ser521Thr)
n.624T>A
c.1570T>A (p.Ser524Thr)
c.1567T>A (p.Ser523Thr)
n.1965T>A
n.1984T>A
4g.1805582T>CCA355981439FGFR3c.1564T>C (p.Ser522Pro)
c.*614T>C (n.*614T>C)
c.1222T>C (p.Ser408Pro)
c.1546T>C (p.Ser516Pro)
c.1558T>C (p.Ser520Pro)
c.1561T>C (p.Ser521Pro)
n.624T>C
c.1570T>C (p.Ser524Pro)
c.1567T>C (p.Ser523Pro)
n.1965T>C
n.1984T>C
 dbSNP gnomAD v2 gnomAD v4
4g.1805582T>GCA355981440FGFR3c.1564T>G (p.Ser522Ala)
c.*614T>G (n.*614T>G)
c.1222T>G (p.Ser408Ala)
c.1546T>G (p.Ser516Ala)
c.1558T>G (p.Ser520Ala)
c.1561T>G (p.Ser521Ala)
n.624T>G
c.1570T>G (p.Ser524Ala)
c.1567T>G (p.Ser523Ala)
n.1965T>G
n.1984T>G
4g.1805582T=CA1433507495FGFR3c.1564T= (p.Ser522=)
c.*614T= (n.*614T=)
c.1222T= (p.Ser408=)
c.1546T= (p.Ser516=)
c.1558T= (p.Ser520=)
c.1561T= (p.Ser521=)
n.624T=
c.1570T= (p.Ser524=)
c.1567T= (p.Ser523=)
n.1965T=
n.1984T=
4g.1805583C>ACA355981441FGFR3c.1565C>A (p.Ser522Ter)
c.*615C>A (n.*615C>A)
c.1223C>A (p.Ser408Ter)
c.1547C>A (p.Ser516Ter)
c.1559C>A (p.Ser520Ter)
c.1562C>A (p.Ser521Ter)
n.625C>A
c.1571C>A (p.Ser524Ter)
c.1568C>A (p.Ser523Ter)
n.1966C>A
n.1985C>A
4g.1805583C=CA1433507496FGFR3c.1565C= (p.Ser522=)
c.*615C= (n.*615C=)
c.1223C= (p.Ser408=)
c.1547C= (p.Ser516=)
c.1559C= (p.Ser520=)
c.1562C= (p.Ser521=)
n.625C=
c.1571C= (p.Ser524=)
c.1568C= (p.Ser523=)
n.1966C=
n.1985C=
4g.1805583C>GCA355981442FGFR3c.1565C>G (p.Ser522Trp)
c.*615C>G (n.*615C>G)
c.1223C>G (p.Ser408Trp)
c.1547C>G (p.Ser516Trp)
c.1559C>G (p.Ser520Trp)
c.1562C>G (p.Ser521Trp)
n.625C>G
c.1571C>G (p.Ser524Trp)
c.1568C>G (p.Ser523Trp)
n.1966C>G
n.1985C>G
 dbSNP gnomAD v4
4g.1805583C>TCA159713FGFR3c.1565C>T (p.Ser522Leu)
c.*615C>T (n.*615C>T)
c.1223C>T (p.Ser408Leu)
c.1547C>T (p.Ser516Leu)
c.1559C>T (p.Ser520Leu)
c.1562C>T (p.Ser521Leu)
n.625C>T
c.1571C>T (p.Ser524Leu)
c.1568C>T (p.Ser523Leu)
n.1966C>T
n.1985C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1805584G>ACA2810472FGFR3c.1566G>A (p.Ser522=)
c.*616G>A (n.*616G>A)
c.1224G>A (p.Ser408=)
c.1548G>A (p.Ser516=)
c.1560G>A (p.Ser520=)
c.1563G>A (p.Ser521=)
n.626G>A
c.1572G>A (p.Ser524=)
c.1569G>A (p.Ser523=)
n.1967G>A
n.1986G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.1805584G>CCA438063230FGFR3c.1566G>C (p.Ser522=)
c.*616G>C (n.*616G>C)
c.1224G>C (p.Ser408=)
c.1548G>C (p.Ser516=)
c.1560G>C (p.Ser520=)
c.1563G>C (p.Ser521=)
n.626G>C
c.1572G>C (p.Ser524=)
c.1569G>C (p.Ser523=)
n.1967G>C
n.1986G>C
 gnomAD v4
4g.1805584G=CA1433507497FGFR3c.1566G= (p.Ser522=)
c.*616G= (n.*616G=)
c.1224G= (p.Ser408=)
c.1548G= (p.Ser516=)
c.1560G= (p.Ser520=)
c.1563G= (p.Ser521=)
n.626G=
c.1572G= (p.Ser524=)
c.1569G= (p.Ser523=)
n.1967G=
n.1986G=
4g.1805584G>TCA2810473FGFR3c.1566G>T (p.Ser522=)
c.*616G>T (n.*616G>T)
c.1224G>T (p.Ser408=)
c.1548G>T (p.Ser516=)
c.1560G>T (p.Ser520=)
c.1563G>T (p.Ser521=)
n.626G>T
c.1572G>T (p.Ser524=)
c.1569G>T (p.Ser523=)
n.1967G>T
n.1986G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1805585G>ACA355981443FGFR3c.1567G>A (p.Asp523Asn)
c.*617G>A (n.*617G>A)
c.1225G>A (p.Asp409Asn)
c.1549G>A (p.Asp517Asn)
c.1561G>A (p.Asp521Asn)
c.1564G>A (p.Asp522Asn)
n.627G>A
c.1573G>A (p.Asp525Asn)
c.1570G>A (p.Asp524Asn)
n.1968G>A
n.1987G>A
4g.1805585G>CCA355981444FGFR3c.1567G>C (p.Asp523His)
c.*617G>C (n.*617G>C)
c.1225G>C (p.Asp409His)
c.1549G>C (p.Asp517His)
c.1561G>C (p.Asp521His)
c.1564G>C (p.Asp522His)
n.627G>C
c.1573G>C (p.Asp525His)
c.1570G>C (p.Asp524His)
n.1968G>C
n.1987G>C
4g.1805585G>TCA355981445FGFR3c.1567G>T (p.Asp523Tyr)
c.*617G>T (n.*617G>T)
c.1225G>T (p.Asp409Tyr)
c.1549G>T (p.Asp517Tyr)
c.1561G>T (p.Asp521Tyr)
c.1564G>T (p.Asp522Tyr)
n.627G>T
c.1573G>T (p.Asp525Tyr)
c.1570G>T (p.Asp524Tyr)
n.1968G>T
n.1987G>T
4g.1805586A=CA1433507498FGFR3c.1568A= (p.Asp523=)
c.*618A= (n.*618A=)
c.1226A= (p.Asp409=)
c.1550A= (p.Asp517=)
c.1562A= (p.Asp521=)
c.1565A= (p.Asp522=)
n.628A=
c.1574A= (p.Asp525=)
c.1571A= (p.Asp524=)
n.1969A=
n.1988A=
4g.1805586A>CCA355981446FGFR3c.1568A>C (p.Asp523Ala)
c.*618A>C (n.*618A>C)
c.1226A>C (p.Asp409Ala)
c.1550A>C (p.Asp517Ala)
c.1562A>C (p.Asp521Ala)
c.1565A>C (p.Asp522Ala)
n.628A>C
c.1574A>C (p.Asp525Ala)
c.1571A>C (p.Asp524Ala)
n.1969A>C
n.1988A>C
4g.1805586A>GCA91256729FGFR3c.1568A>G (p.Asp523Gly)
c.*618A>G (n.*618A>G)
c.1226A>G (p.Asp409Gly)
c.1550A>G (p.Asp517Gly)
c.1562A>G (p.Asp521Gly)
c.1565A>G (p.Asp522Gly)
n.628A>G
c.1574A>G (p.Asp525Gly)
c.1571A>G (p.Asp524Gly)
n.1969A>G
n.1988A>G
 dbSNP
4g.1805586A>TCA355981447FGFR3c.1568A>T (p.Asp523Val)
c.*618A>T (n.*618A>T)
c.1226A>T (p.Asp409Val)
c.1550A>T (p.Asp517Val)
c.1562A>T (p.Asp521Val)
c.1565A>T (p.Asp522Val)
n.628A>T
c.1574A>T (p.Asp525Val)
c.1571A>T (p.Asp524Val)
n.1969A>T
n.1988A>T
4g.1805587C>ACA355981448FGFR3c.1569C>A (p.Asp523Glu)
c.*619C>A (n.*619C>A)
c.1227C>A (p.Asp409Glu)
c.1551C>A (p.Asp517Glu)
c.1563C>A (p.Asp521Glu)
c.1566C>A (p.Asp522Glu)
n.629C>A
c.1575C>A (p.Asp525Glu)
c.1572C>A (p.Asp524Glu)
n.1970C>A
n.1989C>A
4g.1805587C>GCA355981449FGFR3c.1569C>G (p.Asp523Glu)
c.*619C>G (n.*619C>G)
c.1227C>G (p.Asp409Glu)
c.1551C>G (p.Asp517Glu)
c.1563C>G (p.Asp521Glu)
c.1566C>G (p.Asp522Glu)
n.629C>G
c.1575C>G (p.Asp525Glu)
c.1572C>G (p.Asp524Glu)
n.1970C>G
n.1989C>G
 dbSNP
4g.1805587C>TCA438063232FGFR3c.1569C>T (p.Asp523=)
c.*619C>T (n.*619C>T)
c.1227C>T (p.Asp409=)
c.1551C>T (p.Asp517=)
c.1563C>T (p.Asp521=)
c.1566C>T (p.Asp522=)
n.629C>T
c.1575C>T (p.Asp525=)
c.1572C>T (p.Asp524=)
n.1970C>T
n.1989C>T
 ClinVar gnomAD v4
4g.1805588C>ACA355981450FGFR3c.1570C>A (p.Leu524Met)
c.*620C>A (n.*620C>A)
c.1228C>A (p.Leu410Met)
c.1552C>A (p.Leu518Met)
c.1564C>A (p.Leu522Met)
c.1567C>A (p.Leu523Met)
n.630C>A
c.1576C>A (p.Leu526Met)
c.1573C>A (p.Leu525Met)
n.1971C>A
n.1990C>A
4g.1805588C>GCA355981451FGFR3c.1570C>G (p.Leu524Val)
c.*620C>G (n.*620C>G)
c.1228C>G (p.Leu410Val)
c.1552C>G (p.Leu518Val)
c.1564C>G (p.Leu522Val)
c.1567C>G (p.Leu523Val)
n.630C>G
c.1576C>G (p.Leu526Val)
c.1573C>G (p.Leu525Val)
n.1971C>G
n.1990C>G
4g.1805588C>TCA438063234FGFR3c.1570C>T (p.Leu524=)
c.*620C>T (n.*620C>T)
c.1228C>T (p.Leu410=)
c.1552C>T (p.Leu518=)
c.1564C>T (p.Leu522=)
c.1567C>T (p.Leu523=)
n.630C>T
c.1576C>T (p.Leu526=)
c.1573C>T (p.Leu525=)
n.1971C>T
n.1990C>T
 ClinVar dbSNP gnomAD v4
4g.1805589T>ACA355981452FGFR3c.1571T>A (p.Leu524Gln)
c.*621T>A (n.*621T>A)
c.1229T>A (p.Leu410Gln)
c.1553T>A (p.Leu518Gln)
c.1565T>A (p.Leu522Gln)
c.1568T>A (p.Leu523Gln)
n.631T>A
c.1577T>A (p.Leu526Gln)
c.1574T>A (p.Leu525Gln)
n.1972T>A
n.1991T>A
4g.1805589T>CCA355981453FGFR3c.1571T>C (p.Leu524Pro)
c.*621T>C (n.*621T>C)
c.1229T>C (p.Leu410Pro)
c.1553T>C (p.Leu518Pro)
c.1565T>C (p.Leu522Pro)
c.1568T>C (p.Leu523Pro)
n.631T>C
c.1577T>C (p.Leu526Pro)
c.1574T>C (p.Leu525Pro)
n.1972T>C
n.1991T>C
4g.1805589T>GCA355981454FGFR3c.1571T>G (p.Leu524Arg)
c.*621T>G (n.*621T>G)
c.1229T>G (p.Leu410Arg)
c.1553T>G (p.Leu518Arg)
c.1565T>G (p.Leu522Arg)
c.1568T>G (p.Leu523Arg)
n.631T>G
c.1577T>G (p.Leu526Arg)
c.1574T>G (p.Leu525Arg)
n.1972T>G
n.1991T>G
4g.1805590G>ACA438063235FGFR3c.1572G>A (p.Leu524=)
c.*622G>A (n.*622G>A)
c.1230G>A (p.Leu410=)
c.1554G>A (p.Leu518=)
c.1566G>A (p.Leu522=)
c.1569G>A (p.Leu523=)
n.632G>A
c.1578G>A (p.Leu526=)
c.1575G>A (p.Leu525=)
n.1973G>A
n.1992G>A
 dbSNP gnomAD v3 gnomAD v4
4g.1805590G>CCA438063236FGFR3c.1572G>C (p.Leu524=)
c.*622G>C (n.*622G>C)
c.1230G>C (p.Leu410=)
c.1554G>C (p.Leu518=)
c.1566G>C (p.Leu522=)
c.1569G>C (p.Leu523=)
n.632G>C
c.1578G>C (p.Leu526=)
c.1575G>C (p.Leu525=)
n.1973G>C
n.1992G>C
4g.1805590G=CA1433507499FGFR3c.1572G= (p.Leu524=)
c.*622G= (n.*622G=)
c.1230G= (p.Leu410=)
c.1554G= (p.Leu518=)
c.1566G= (p.Leu522=)
c.1569G= (p.Leu523=)
n.632G=
c.1578G= (p.Leu526=)
c.1575G= (p.Leu525=)
n.1973G=
n.1992G=
4g.1805590G>TCA438063237FGFR3c.1572G>T (p.Leu524=)
c.*622G>T (n.*622G>T)
c.1230G>T (p.Leu410=)
c.1554G>T (p.Leu518=)
c.1566G>T (p.Leu522=)
c.1569G>T (p.Leu523=)
n.632G>T
c.1578G>T (p.Leu526=)
c.1575G>T (p.Leu525=)
n.1973G>T
n.1992G>T
4g.1805591G>ACA355981456FGFR3c.1573G>A (p.Val525Met)
c.*623G>A (n.*623G>A)
c.1231G>A (p.Val411Met)
c.1555G>A (p.Val519Met)
c.1567G>A (p.Val523Met)
c.1570G>A (p.Val524Met)
n.633G>A
c.1579G>A (p.Val527Met)
c.1576G>A (p.Val526Met)
n.1974G>A
n.1993G>A
 dbSNP
4g.1805591G>CCA2810474FGFR3c.1573G>C (p.Val525Leu)
c.*623G>C (n.*623G>C)
c.1231G>C (p.Val411Leu)
c.1555G>C (p.Val519Leu)
c.1567G>C (p.Val523Leu)
c.1570G>C (p.Val524Leu)
n.633G>C
c.1579G>C (p.Val527Leu)
c.1576G>C (p.Val526Leu)
n.1974G>C
n.1993G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1805591G=CA1433507500FGFR3c.1573G= (p.Val525=)
c.*623G= (n.*623G=)
c.1231G= (p.Val411=)
c.1555G= (p.Val519=)
c.1567G= (p.Val523=)
c.1570G= (p.Val524=)
n.633G=
c.1579G= (p.Val527=)
c.1576G= (p.Val526=)
n.1974G=
n.1993G=
4g.1805591G>TCA355981455FGFR3c.1573G>T (p.Val525Leu)
c.*623G>T (n.*623G>T)
c.1231G>T (p.Val411Leu)
c.1555G>T (p.Val519Leu)
c.1567G>T (p.Val523Leu)
c.1570G>T (p.Val524Leu)
n.633G>T
c.1579G>T (p.Val527Leu)
c.1576G>T (p.Val526Leu)
n.1974G>T
n.1993G>T
4g.1805592T>ACA355981457FGFR3c.1574T>A (p.Val525Glu)
c.*624T>A (n.*624T>A)
c.1232T>A (p.Val411Glu)
c.1556T>A (p.Val519Glu)
c.1568T>A (p.Val523Glu)
c.1571T>A (p.Val524Glu)
n.634T>A
c.1580T>A (p.Val527Glu)
c.1577T>A (p.Val526Glu)
n.1975T>A
n.1994T>A
4g.1805592T>CCA2810475FGFR3c.1574T>C (p.Val525Ala)
c.*624T>C (n.*624T>C)
c.1232T>C (p.Val411Ala)
c.1556T>C (p.Val519Ala)
c.1568T>C (p.Val523Ala)
c.1571T>C (p.Val524Ala)
n.634T>C
c.1580T>C (p.Val527Ala)
c.1577T>C (p.Val526Ala)
n.1975T>C
n.1994T>C
 dbSNP ExAC gnomAD v2
4g.1805592T>GCA355981458FGFR3c.1574T>G (p.Val525Gly)
c.*624T>G (n.*624T>G)
c.1232T>G (p.Val411Gly)
c.1556T>G (p.Val519Gly)
c.1568T>G (p.Val523Gly)
c.1571T>G (p.Val524Gly)
n.634T>G
c.1580T>G (p.Val527Gly)
c.1577T>G (p.Val526Gly)
n.1975T>G
n.1994T>G
4g.1805592T=CA1433507501FGFR3c.1574T= (p.Val525=)
c.*624T= (n.*624T=)
c.1232T= (p.Val411=)
c.1556T= (p.Val519=)
c.1568T= (p.Val523=)
c.1571T= (p.Val524=)
n.634T=
c.1580T= (p.Val527=)
c.1577T= (p.Val526=)
n.1975T=
n.1994T=
4g.1805593G>ACA438063243FGFR3c.1575G>A (p.Val525=)
c.*625G>A (n.*625G>A)
c.1233G>A (p.Val411=)
c.1557G>A (p.Val519=)
c.1569G>A (p.Val523=)
c.1572G>A (p.Val524=)
n.635G>A
c.1581G>A (p.Val527=)
c.1578G>A (p.Val526=)
n.1976G>A
n.1995G>A
 dbSNP gnomAD v4
4g.1805593G>CCA438063244FGFR3c.1575G>C (p.Val525=)
c.*625G>C (n.*625G>C)
c.1233G>C (p.Val411=)
c.1557G>C (p.Val519=)
c.1569G>C (p.Val523=)
c.1572G>C (p.Val524=)
n.635G>C
c.1581G>C (p.Val527=)
c.1578G>C (p.Val526=)
n.1976G>C
n.1995G>C
 gnomAD v4
4g.1805593G>TCA438063245FGFR3c.1575G>T (p.Val525=)
c.*625G>T (n.*625G>T)
c.1233G>T (p.Val411=)
c.1557G>T (p.Val519=)
c.1569G>T (p.Val523=)
c.1572G>T (p.Val524=)
n.635G>T
c.1581G>T (p.Val527=)
c.1578G>T (p.Val526=)
n.1976G>T
n.1995G>T
 gnomAD v4
4g.1805594T>ACA355981459FGFR3c.1576T>A (p.Ser526Thr)
c.*626T>A (n.*626T>A)
c.1234T>A (p.Ser412Thr)
c.1558T>A (p.Ser520Thr)
c.1570T>A (p.Ser524Thr)
c.1573T>A (p.Ser525Thr)
n.636T>A
c.1582T>A (p.Ser528Thr)
c.1579T>A (p.Ser527Thr)
n.1977T>A
n.1996T>A
4g.1805594T>CCA355981460FGFR3c.1576T>C (p.Ser526Pro)
c.*626T>C (n.*626T>C)
c.1234T>C (p.Ser412Pro)
c.1558T>C (p.Ser520Pro)
c.1570T>C (p.Ser524Pro)
c.1573T>C (p.Ser525Pro)
n.636T>C
c.1582T>C (p.Ser528Pro)
c.1579T>C (p.Ser527Pro)
n.1977T>C
n.1996T>C
4g.1805594T>GCA355981461FGFR3c.1576T>G (p.Ser526Ala)
c.*626T>G (n.*626T>G)
c.1234T>G (p.Ser412Ala)
c.1558T>G (p.Ser520Ala)
c.1570T>G (p.Ser524Ala)
c.1573T>G (p.Ser525Ala)
n.636T>G
c.1582T>G (p.Ser528Ala)
c.1579T>G (p.Ser527Ala)
n.1977T>G
n.1996T>G
4g.1805595C>ACA355981462FGFR3c.1577C>A (p.Ser526Tyr)
c.*627C>A (n.*627C>A)
c.1235C>A (p.Ser412Tyr)
c.1559C>A (p.Ser520Tyr)
c.1571C>A (p.Ser524Tyr)
c.1574C>A (p.Ser525Tyr)
n.637C>A
c.1583C>A (p.Ser528Tyr)
c.1580C>A (p.Ser527Tyr)
n.1978C>A
n.1997C>A
4g.1805595C>GCA355981463FGFR3c.1577C>G (p.Ser526Cys)
c.*627C>G (n.*627C>G)
c.1235C>G (p.Ser412Cys)
c.1559C>G (p.Ser520Cys)
c.1571C>G (p.Ser524Cys)
c.1574C>G (p.Ser525Cys)
n.637C>G
c.1583C>G (p.Ser528Cys)
c.1580C>G (p.Ser527Cys)
n.1978C>G
n.1997C>G
 dbSNP
4g.1805595C>TCA355981464FGFR3c.1577C>T (p.Ser526Phe)
c.*627C>T (n.*627C>T)
c.1235C>T (p.Ser412Phe)
c.1559C>T (p.Ser520Phe)
c.1571C>T (p.Ser524Phe)
c.1574C>T (p.Ser525Phe)
n.637C>T
c.1583C>T (p.Ser528Phe)
c.1580C>T (p.Ser527Phe)
n.1978C>T
n.1997C>T
 dbSNP
4g.1805596T>ACA438063250FGFR3c.1578T>A (p.Ser526=)
c.*628T>A (n.*628T>A)
c.1236T>A (p.Ser412=)
c.1560T>A (p.Ser520=)
c.1572T>A (p.Ser524=)
c.1575T>A (p.Ser525=)
n.638T>A
c.1584T>A (p.Ser528=)
c.1581T>A (p.Ser527=)
n.1979T>A
n.1998T>A
4g.1805596T>CCA2810476FGFR3c.1578T>C (p.Ser526=)
c.*628T>C (n.*628T>C)
c.1236T>C (p.Ser412=)
c.1560T>C (p.Ser520=)
c.1572T>C (p.Ser524=)
c.1575T>C (p.Ser525=)
n.638T>C
c.1584T>C (p.Ser528=)
c.1581T>C (p.Ser527=)
n.1979T>C
n.1998T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1805596T>GCA438063251FGFR3c.1578T>G (p.Ser526=)
c.*628T>G (n.*628T>G)
c.1236T>G (p.Ser412=)
c.1560T>G (p.Ser520=)
c.1572T>G (p.Ser524=)
c.1575T>G (p.Ser525=)
n.638T>G
c.1584T>G (p.Ser528=)
c.1581T>G (p.Ser527=)
n.1979T>G
n.1998T>G
 gnomAD v4
4g.1805596T=CA1433507502FGFR3c.1578T= (p.Ser526=)
c.*628T= (n.*628T=)
c.1236T= (p.Ser412=)
c.1560T= (p.Ser520=)
c.1572T= (p.Ser524=)
c.1575T= (p.Ser525=)
n.638T=
c.1584T= (p.Ser528=)
c.1581T= (p.Ser527=)
n.1979T=
n.1998T=
4g.1805597G>ACA355981465FGFR3c.1579G>A (p.Glu527Lys)
c.*629G>A (n.*629G>A)
c.1237G>A (p.Glu413Lys)
c.1561G>A (p.Glu521Lys)
c.1573G>A (p.Glu525Lys)
c.1576G>A (p.Glu526Lys)
n.639G>A
c.1585G>A (p.Glu529Lys)
c.1582G>A (p.Glu528Lys)
n.1980G>A
n.1999G>A
4g.1805597G>CCA355981466FGFR3c.1579G>C (p.Glu527Gln)
c.*629G>C (n.*629G>C)
c.1237G>C (p.Glu413Gln)
c.1561G>C (p.Glu521Gln)
c.1573G>C (p.Glu525Gln)
c.1576G>C (p.Glu526Gln)
n.639G>C
c.1585G>C (p.Glu529Gln)
c.1582G>C (p.Glu528Gln)
n.1980G>C
n.1999G>C
4g.1805597G>TCA355981467FGFR3c.1579G>T (p.Glu527Ter)
c.*629G>T (n.*629G>T)
c.1237G>T (p.Glu413Ter)
c.1561G>T (p.Glu521Ter)
c.1573G>T (p.Glu525Ter)
c.1576G>T (p.Glu526Ter)
n.639G>T
c.1585G>T (p.Glu529Ter)
c.1582G>T (p.Glu528Ter)
n.1980G>T
n.1999G>T
4g.1805598A>CCA355981469FGFR3c.1580A>C (p.Glu527Ala)
c.*630A>C (n.*630A>C)
c.1238A>C (p.Glu413Ala)
c.1562A>C (p.Glu521Ala)
c.1574A>C (p.Glu525Ala)
c.1577A>C (p.Glu526Ala)
n.640A>C
c.1586A>C (p.Glu529Ala)
c.1583A>C (p.Glu528Ala)
n.1981A>C
n.2000A>C
4g.1805598A>GCA355981470FGFR3c.1580A>G (p.Glu527Gly)
c.*630A>G (n.*630A>G)
c.1238A>G (p.Glu413Gly)
c.1562A>G (p.Glu521Gly)
c.1574A>G (p.Glu525Gly)
c.1577A>G (p.Glu526Gly)
n.640A>G
c.1586A>G (p.Glu529Gly)
c.1583A>G (p.Glu528Gly)
n.1981A>G
n.2000A>G
4g.1805598A>TCA355981468FGFR3c.1580A>T (p.Glu527Val)
c.*630A>T (n.*630A>T)
c.1238A>T (p.Glu413Val)
c.1562A>T (p.Glu521Val)
c.1574A>T (p.Glu525Val)
c.1577A>T (p.Glu526Val)
n.640A>T
c.1586A>T (p.Glu529Val)
c.1583A>T (p.Glu528Val)
n.1981A>T
n.2000A>T
4g.1805599G>ACA438063256FGFR3c.1581G>A (p.Glu527=)
c.*631G>A (n.*631G>A)
c.1239G>A (p.Glu413=)
c.1563G>A (p.Glu521=)
c.1575G>A (p.Glu525=)
c.1578G>A (p.Glu526=)
n.641G>A
c.1587G>A (p.Glu529=)
c.1584G>A (p.Glu528=)
n.1982G>A
n.2001G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1805599G>CCA355981471FGFR3c.1581G>C (p.Glu527Asp)
c.*631G>C (n.*631G>C)
c.1239G>C (p.Glu413Asp)
c.1563G>C (p.Glu521Asp)
c.1575G>C (p.Glu525Asp)
c.1578G>C (p.Glu526Asp)
n.641G>C
c.1587G>C (p.Glu529Asp)
c.1584G>C (p.Glu528Asp)
n.1982G>C
n.2001G>C
4g.1805599G=CA1433507503FGFR3c.1581G= (p.Glu527=)
c.*631G= (n.*631G=)
c.1239G= (p.Glu413=)
c.1563G= (p.Glu521=)
c.1575G= (p.Glu525=)
c.1578G= (p.Glu526=)
n.641G=
c.1587G= (p.Glu529=)
c.1584G= (p.Glu528=)
n.1982G=
n.2001G=
4g.1805599G>TCA355981472FGFR3c.1581G>T (p.Glu527Asp)
c.*631G>T (n.*631G>T)
c.1239G>T (p.Glu413Asp)
c.1563G>T (p.Glu521Asp)
c.1575G>T (p.Glu525Asp)
c.1578G>T (p.Glu526Asp)
n.641G>T
c.1587G>T (p.Glu529Asp)
c.1584G>T (p.Glu528Asp)
n.1982G>T
n.2001G>T
4g.1805600A=CA1433507504FGFR3c.1582A= (p.Met528=)
c.*632A= (n.*632A=)
c.1240A= (p.Met414=)
c.1564A= (p.Met522=)
c.1576A= (p.Met526=)
c.1579A= (p.Met527=)
n.642A=
c.1588A= (p.Met530=)
c.1585A= (p.Met529=)
n.1983A=
n.2002A=
4g.1805600A>CCA355981473FGFR3c.1582A>C (p.Met528Leu)
c.*632A>C (n.*632A>C)
c.1240A>C (p.Met414Leu)
c.1564A>C (p.Met522Leu)
c.1576A>C (p.Met526Leu)
c.1579A>C (p.Met527Leu)
n.642A>C
c.1588A>C (p.Met530Leu)
c.1585A>C (p.Met529Leu)
n.1983A>C
n.2002A>C
4g.1805600A>GCA2810477FGFR3c.1582A>G (p.Met528Val)
c.*632A>G (n.*632A>G)
c.1240A>G (p.Met414Val)
c.1564A>G (p.Met522Val)
c.1576A>G (p.Met526Val)
c.1579A>G (p.Met527Val)
n.642A>G
c.1588A>G (p.Met530Val)
c.1585A>G (p.Met529Val)
n.1983A>G
n.2002A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1805600A>TCA355981474FGFR3c.1582A>T (p.Met528Leu)
c.*632A>T (n.*632A>T)
c.1240A>T (p.Met414Leu)
c.1564A>T (p.Met522Leu)
c.1576A>T (p.Met526Leu)
c.1579A>T (p.Met527Leu)
n.642A>T
c.1588A>T (p.Met530Leu)
c.1585A>T (p.Met529Leu)
n.1983A>T
n.2002A>T
4g.1805601T>ACA355981477FGFR3c.1583T>A (p.Met528Lys)
c.*633T>A (n.*633T>A)
c.1241T>A (p.Met414Lys)
c.1565T>A (p.Met522Lys)
c.1577T>A (p.Met526Lys)
c.1580T>A (p.Met527Lys)
n.643T>A
c.1589T>A (p.Met530Lys)
c.1586T>A (p.Met529Lys)
n.1984T>A
n.2003T>A
4g.1805601T>CCA355981476FGFR3c.1583T>C (p.Met528Thr)
c.*633T>C (n.*633T>C)
c.1241T>C (p.Met414Thr)
c.1565T>C (p.Met522Thr)
c.1577T>C (p.Met526Thr)
c.1580T>C (p.Met527Thr)
n.643T>C
c.1589T>C (p.Met530Thr)
c.1586T>C (p.Met529Thr)
n.1984T>C
n.2003T>C
4g.1805601T>GCA355981475FGFR3c.1583T>G (p.Met528Arg)
c.*633T>G (n.*633T>G)
c.1241T>G (p.Met414Arg)
c.1565T>G (p.Met522Arg)
c.1577T>G (p.Met526Arg)
c.1580T>G (p.Met527Arg)
n.643T>G
c.1589T>G (p.Met530Arg)
c.1586T>G (p.Met529Arg)
n.1984T>G
n.2003T>G
4g.1805602G>ACA2810478FGFR3c.1584G>A (p.Met528Ile)
c.*634G>A (n.*634G>A)
c.1242G>A (p.Met414Ile)
c.1566G>A (p.Met522Ile)
c.1578G>A (p.Met526Ile)
c.1581G>A (p.Met527Ile)
n.644G>A
c.1590G>A (p.Met530Ile)
c.1587G>A (p.Met529Ile)
n.1985G>A
n.2004G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1805602G>CCA355981478FGFR3c.1584G>C (p.Met528Ile)
c.*634G>C (n.*634G>C)
c.1242G>C (p.Met414Ile)
c.1566G>C (p.Met522Ile)
c.1578G>C (p.Met526Ile)
c.1581G>C (p.Met527Ile)
n.644G>C
c.1590G>C (p.Met530Ile)
c.1587G>C (p.Met529Ile)
n.1985G>C
n.2004G>C
 dbSNP gnomAD v3 gnomAD v4
4g.1805602G=CA1433507505FGFR3c.1584G= (p.Met528=)
c.*634G= (n.*634G=)
c.1242G= (p.Met414=)
c.1566G= (p.Met522=)
c.1578G= (p.Met526=)
c.1581G= (p.Met527=)
n.644G=
c.1590G= (p.Met530=)
c.1587G= (p.Met529=)
n.1985G=
n.2004G=
4g.1805602G>TCA355981479FGFR3c.1584G>T (p.Met528Ile)
c.*634G>T (n.*634G>T)
c.1242G>T (p.Met414Ile)
c.1566G>T (p.Met522Ile)
c.1578G>T (p.Met526Ile)
c.1581G>T (p.Met527Ile)
n.644G>T
c.1590G>T (p.Met530Ile)
c.1587G>T (p.Met529Ile)
n.1985G>T
n.2004G>T
 dbSNP gnomAD v2 gnomAD v4
4g.1805603G>ACA355981480FGFR3c.1585G>A (p.Glu529Lys)
c.*635G>A (n.*635G>A)
c.1243G>A (p.Glu415Lys)
c.1567G>A (p.Glu523Lys)
c.1579G>A (p.Glu527Lys)
c.1582G>A (p.Glu528Lys)
n.645G>A
c.1591G>A (p.Glu531Lys)
c.1588G>A (p.Glu530Lys)
n.1986G>A
n.2005G>A
4g.1805603G>CCA355981481FGFR3c.1585G>C (p.Glu529Gln)
c.*635G>C (n.*635G>C)
c.1243G>C (p.Glu415Gln)
c.1567G>C (p.Glu523Gln)
c.1579G>C (p.Glu527Gln)
c.1582G>C (p.Glu528Gln)
n.645G>C
c.1591G>C (p.Glu531Gln)
c.1588G>C (p.Glu530Gln)
n.1986G>C
n.2005G>C
4g.1805603G>TCA355981482FGFR3c.1585G>T (p.Glu529Ter)
c.*635G>T (n.*635G>T)
c.1243G>T (p.Glu415Ter)
c.1567G>T (p.Glu523Ter)
c.1579G>T (p.Glu527Ter)
c.1582G>T (p.Glu528Ter)
n.645G>T
c.1591G>T (p.Glu531Ter)
c.1588G>T (p.Glu530Ter)
n.1986G>T
n.2005G>T
4g.1805604A>CCA355981485FGFR3c.1586A>C (p.Glu529Ala)
c.*636A>C (n.*636A>C)
c.1244A>C (p.Glu415Ala)
c.1568A>C (p.Glu523Ala)
c.1580A>C (p.Glu527Ala)
c.1583A>C (p.Glu528Ala)
n.646A>C
c.1592A>C (p.Glu531Ala)
c.1589A>C (p.Glu530Ala)
n.1987A>C
n.2006A>C
4g.1805604A>GCA355981483FGFR3c.1586A>G (p.Glu529Gly)
c.*636A>G (n.*636A>G)
c.1244A>G (p.Glu415Gly)
c.1568A>G (p.Glu523Gly)
c.1580A>G (p.Glu527Gly)
c.1583A>G (p.Glu528Gly)
n.646A>G
c.1592A>G (p.Glu531Gly)
c.1589A>G (p.Glu530Gly)
n.1987A>G
n.2006A>G
4g.1805604A>TCA355981484FGFR3c.1586A>T (p.Glu529Val)
c.*636A>T (n.*636A>T)
c.1244A>T (p.Glu415Val)
c.1568A>T (p.Glu523Val)
c.1580A>T (p.Glu527Val)
c.1583A>T (p.Glu528Val)
n.646A>T
c.1592A>T (p.Glu531Val)
c.1589A>T (p.Glu530Val)
n.1987A>T
n.2006A>T
4g.1805605G>ACA438063261FGFR3c.1587G>A (p.Glu529=)
c.*637G>A (n.*637G>A)
c.1245G>A (p.Glu415=)
c.1569G>A (p.Glu523=)
c.1581G>A (p.Glu527=)
c.1584G>A (p.Glu528=)
n.647G>A
c.1593G>A (p.Glu531=)
c.1590G>A (p.Glu530=)
n.1988G>A
n.2007G>A
 gnomAD v4
4g.1805605G>CCA355981486FGFR3c.1587G>C (p.Glu529Asp)
c.*637G>C (n.*637G>C)
c.1245G>C (p.Glu415Asp)
c.1569G>C (p.Glu523Asp)
c.1581G>C (p.Glu527Asp)
c.1584G>C (p.Glu528Asp)
n.647G>C
c.1593G>C (p.Glu531Asp)
c.1590G>C (p.Glu530Asp)
n.1988G>C
n.2007G>C
4g.1805605G>TCA355981487FGFR3c.1587G>T (p.Glu529Asp)
c.*637G>T (n.*637G>T)
c.1245G>T (p.Glu415Asp)
c.1569G>T (p.Glu523Asp)
c.1581G>T (p.Glu527Asp)
c.1584G>T (p.Glu528Asp)
n.647G>T
c.1593G>T (p.Glu531Asp)
c.1590G>T (p.Glu530Asp)
n.1988G>T
n.2007G>T
4g.1805606A=CA1433507506FGFR3c.1588A= (p.Met530=)
c.*638A= (n.*638A=)
c.1246A= (p.Met416=)
c.1570A= (p.Met524=)
c.1582A= (p.Met528=)
c.1585A= (p.Met529=)
n.648A=
c.1594A= (p.Met532=)
c.1591A= (p.Met531=)
n.1989A=
n.2008A=
4g.1805606A>CCA355981488FGFR3c.1588A>C (p.Met530Leu)
c.*638A>C (n.*638A>C)
c.1246A>C (p.Met416Leu)
c.1570A>C (p.Met524Leu)
c.1582A>C (p.Met528Leu)
c.1585A>C (p.Met529Leu)
n.648A>C
c.1594A>C (p.Met532Leu)
c.1591A>C (p.Met531Leu)
n.1989A>C
n.2008A>C
4g.1805606A>GCA355981489FGFR3c.1588A>G (p.Met530Val)
c.*638A>G (n.*638A>G)
c.1246A>G (p.Met416Val)
c.1570A>G (p.Met524Val)
c.1582A>G (p.Met528Val)
c.1585A>G (p.Met529Val)
n.648A>G
c.1594A>G (p.Met532Val)
c.1591A>G (p.Met531Val)
n.1989A>G
n.2008A>G
 dbSNP
4g.1805606A>TCA355981490FGFR3c.1588A>T (p.Met530Leu)
c.*638A>T (n.*638A>T)
c.1246A>T (p.Met416Leu)
c.1570A>T (p.Met524Leu)
c.1582A>T (p.Met528Leu)
c.1585A>T (p.Met529Leu)
n.648A>T
c.1594A>T (p.Met532Leu)
c.1591A>T (p.Met531Leu)
n.1989A>T
n.2008A>T
 gnomAD v4
4g.1805607T>ACA355981493FGFR3c.1589T>A (p.Met530Lys)
c.*639T>A (n.*639T>A)
c.1247T>A (p.Met416Lys)
c.1571T>A (p.Met524Lys)
c.1583T>A (p.Met528Lys)
c.1586T>A (p.Met529Lys)
n.649T>A
c.1595T>A (p.Met532Lys)
c.1592T>A (p.Met531Lys)
n.1990T>A
n.2009T>A
4g.1805607T>CCA355981492FGFR3c.1589T>C (p.Met530Thr)
c.*639T>C (n.*639T>C)
c.1247T>C (p.Met416Thr)
c.1571T>C (p.Met524Thr)
c.1583T>C (p.Met528Thr)
c.1586T>C (p.Met529Thr)
n.649T>C
c.1595T>C (p.Met532Thr)
c.1592T>C (p.Met531Thr)
n.1990T>C
n.2009T>C
4g.1805607T>GCA355981491FGFR3c.1589T>G (p.Met530Arg)
c.*639T>G (n.*639T>G)
c.1247T>G (p.Met416Arg)
c.1571T>G (p.Met524Arg)
c.1583T>G (p.Met528Arg)
c.1586T>G (p.Met529Arg)
n.649T>G
c.1595T>G (p.Met532Arg)
c.1592T>G (p.Met531Arg)
n.1990T>G
n.2009T>G
4g.1805608G>ACA355981494FGFR3c.1590G>A (p.Met530Ile)
c.*640G>A (n.*640G>A)
c.1248G>A (p.Met416Ile)
c.1572G>A (p.Met524Ile)
c.1584G>A (p.Met528Ile)
c.1587G>A (p.Met529Ile)
n.650G>A
c.1596G>A (p.Met532Ile)
c.1593G>A (p.Met531Ile)
n.1991G>A
n.2010G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.1805608G>CCA355981495FGFR3c.1590G>C (p.Met530Ile)
c.*640G>C (n.*640G>C)
c.1248G>C (p.Met416Ile)
c.1572G>C (p.Met524Ile)
c.1584G>C (p.Met528Ile)
c.1587G>C (p.Met529Ile)
n.650G>C
c.1596G>C (p.Met532Ile)
c.1593G>C (p.Met531Ile)
n.1991G>C
n.2010G>C
 ClinVar dbSNP gnomAD v4
4g.1805608G=CA1433507507FGFR3c.1590G= (p.Met530=)
c.*640G= (n.*640G=)
c.1248G= (p.Met416=)
c.1572G= (p.Met524=)
c.1584G= (p.Met528=)
c.1587G= (p.Met529=)
n.650G=
c.1596G= (p.Met532=)
c.1593G= (p.Met531=)
n.1991G=
n.2010G=
4g.1805608G>TCA355981496FGFR3c.1590G>T (p.Met530Ile)
c.*640G>T (n.*640G>T)
c.1248G>T (p.Met416Ile)
c.1572G>T (p.Met524Ile)
c.1584G>T (p.Met528Ile)
c.1587G>T (p.Met529Ile)
n.650G>T
c.1596G>T (p.Met532Ile)
c.1593G>T (p.Met531Ile)
n.1991G>T
n.2010G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1805609A=CA1433507508FGFR3c.1591A= (p.Met531=)
c.*641A= (n.*641A=)
c.1249A= (p.Met417=)
c.1573A= (p.Met525=)
c.1585A= (p.Met529=)
c.1588A= (p.Met530=)
n.651A=
c.1597A= (p.Met533=)
c.1594A= (p.Met532=)
n.1992A=
n.2011A=
4g.1805609A>CCA355981497FGFR3c.1591A>C (p.Met531Leu)
c.*641A>C (n.*641A>C)
c.1249A>C (p.Met417Leu)
c.1573A>C (p.Met525Leu)
c.1585A>C (p.Met529Leu)
c.1588A>C (p.Met530Leu)
n.651A>C
c.1597A>C (p.Met533Leu)
c.1594A>C (p.Met532Leu)
n.1992A>C
n.2011A>C
 gnomAD v4
4g.1805609A>GCA355981498FGFR3c.1591A>G (p.Met531Val)
c.*641A>G (n.*641A>G)
c.1249A>G (p.Met417Val)
c.1573A>G (p.Met525Val)
c.1585A>G (p.Met529Val)
c.1588A>G (p.Met530Val)
n.651A>G
c.1597A>G (p.Met533Val)
c.1594A>G (p.Met532Val)
n.1992A>G
n.2011A>G
4g.1805609A>TCA2810479FGFR3c.1591A>T (p.Met531Leu)
c.*641A>T (n.*641A>T)
c.1249A>T (p.Met417Leu)
c.1573A>T (p.Met525Leu)
c.1585A>T (p.Met529Leu)
c.1588A>T (p.Met530Leu)
n.651A>T
c.1597A>T (p.Met533Leu)
c.1594A>T (p.Met532Leu)
n.1992A>T
n.2011A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1805610T>ACA355981499FGFR3c.1592T>A (p.Met531Lys)
c.*642T>A (n.*642T>A)
c.1250T>A (p.Met417Lys)
c.1574T>A (p.Met525Lys)
c.1586T>A (p.Met529Lys)
c.1589T>A (p.Met530Lys)
n.652T>A
c.1598T>A (p.Met533Lys)
c.1595T>A (p.Met532Lys)
n.1993T>A
n.2012T>A
4g.1805610T>CCA355981501FGFR3c.1592T>C (p.Met531Thr)
c.*642T>C (n.*642T>C)
c.1250T>C (p.Met417Thr)
c.1574T>C (p.Met525Thr)
c.1586T>C (p.Met529Thr)
c.1589T>C (p.Met530Thr)
n.652T>C
c.1598T>C (p.Met533Thr)
c.1595T>C (p.Met532Thr)
n.1993T>C
n.2012T>C
4g.1805610T>GCA355981500FGFR3c.1592T>G (p.Met531Arg)
c.*642T>G (n.*642T>G)
c.1250T>G (p.Met417Arg)
c.1574T>G (p.Met525Arg)
c.1586T>G (p.Met529Arg)
c.1589T>G (p.Met530Arg)
n.652T>G
c.1598T>G (p.Met533Arg)
c.1595T>G (p.Met532Arg)
n.1993T>G
n.2012T>G
4g.1805611G>ACA355981502FGFR3c.1593G>A (p.Met531Ile)
c.*643G>A (n.*643G>A)
c.1251G>A (p.Met417Ile)
c.1575G>A (p.Met525Ile)
c.1587G>A (p.Met529Ile)
c.1590G>A (p.Met530Ile)
n.653G>A
c.1599G>A (p.Met533Ile)
c.1596G>A (p.Met532Ile)
n.1994G>A
n.2013G>A
 dbSNP
4g.1805611G>CCA355981503FGFR3c.1593G>C (p.Met531Ile)
c.*643G>C (n.*643G>C)
c.1251G>C (p.Met417Ile)
c.1575G>C (p.Met525Ile)
c.1587G>C (p.Met529Ile)
c.1590G>C (p.Met530Ile)
n.653G>C
c.1599G>C (p.Met533Ile)
c.1596G>C (p.Met532Ile)
n.1994G>C
n.2013G>C
4g.1805611G=CA1433507509FGFR3c.1593G= (p.Met531=)
c.*643G= (n.*643G=)
c.1251G= (p.Met417=)
c.1575G= (p.Met525=)
c.1587G= (p.Met529=)
c.1590G= (p.Met530=)
n.653G=
c.1599G= (p.Met533=)
c.1596G= (p.Met532=)
n.1994G=
n.2013G=
4g.1805611G>TCA355981504FGFR3c.1593G>T (p.Met531Ile)
c.*643G>T (n.*643G>T)
c.1251G>T (p.Met417Ile)
c.1575G>T (p.Met525Ile)
c.1587G>T (p.Met529Ile)
c.1590G>T (p.Met530Ile)
n.653G>T
c.1599G>T (p.Met533Ile)
c.1596G>T (p.Met532Ile)
n.1994G>T
n.2013G>T
4g.1805612A>CCA355981505FGFR3c.1594A>C (p.Lys532Gln)
c.*644A>C (n.*644A>C)
c.1252A>C (p.Lys418Gln)
c.1576A>C (p.Lys526Gln)
c.1588A>C (p.Lys530Gln)
c.1591A>C (p.Lys531Gln)
n.654A>C
c.1600A>C (p.Lys534Gln)
c.1597A>C (p.Lys533Gln)
n.1995A>C
n.2014A>C
4g.1805612A>GCA355981506FGFR3c.1594A>G (p.Lys532Glu)
c.*644A>G (n.*644A>G)
c.1252A>G (p.Lys418Glu)
c.1576A>G (p.Lys526Glu)
c.1588A>G (p.Lys530Glu)
c.1591A>G (p.Lys531Glu)
n.654A>G
c.1600A>G (p.Lys534Glu)
c.1597A>G (p.Lys533Glu)
n.1995A>G
n.2014A>G
4g.1805612A>TCA355981507FGFR3c.1594A>T (p.Lys532Ter)
c.*644A>T (n.*644A>T)
c.1252A>T (p.Lys418Ter)
c.1576A>T (p.Lys526Ter)
c.1588A>T (p.Lys530Ter)
c.1591A>T (p.Lys531Ter)
n.654A>T
c.1600A>T (p.Lys534Ter)
c.1597A>T (p.Lys533Ter)
n.1995A>T
n.2014A>T
4g.1805613A>CCA355981510FGFR3c.1595A>C (p.Lys532Thr)
c.*645A>C (n.*645A>C)
c.1253A>C (p.Lys418Thr)
c.1577A>C (p.Lys526Thr)
c.1589A>C (p.Lys530Thr)
c.1592A>C (p.Lys531Thr)
n.655A>C
c.1601A>C (p.Lys534Thr)
c.1598A>C (p.Lys533Thr)
n.1996A>C
n.2015A>C
4g.1805613A>GCA355981508FGFR3c.1595A>G (p.Lys532Arg)
c.*645A>G (n.*645A>G)
c.1253A>G (p.Lys418Arg)
c.1577A>G (p.Lys526Arg)
c.1589A>G (p.Lys530Arg)
c.1592A>G (p.Lys531Arg)
n.655A>G
c.1601A>G (p.Lys534Arg)
c.1598A>G (p.Lys533Arg)
n.1996A>G
n.2015A>G
4g.1805613A>TCA355981509FGFR3c.1595A>T (p.Lys532Met)
c.*645A>T (n.*645A>T)
c.1253A>T (p.Lys418Met)
c.1577A>T (p.Lys526Met)
c.1589A>T (p.Lys530Met)
c.1592A>T (p.Lys531Met)
n.655A>T
c.1601A>T (p.Lys534Met)
c.1598A>T (p.Lys533Met)
n.1996A>T
n.2015A>T
4g.1805614G>ACA438063268FGFR3c.1596G>A (p.Lys532=)
c.*646G>A (n.*646G>A)
c.1254G>A (p.Lys418=)
c.1578G>A (p.Lys526=)
c.1590G>A (p.Lys530=)
c.1593G>A (p.Lys531=)
n.656G>A
c.1602G>A (p.Lys534=)
c.1599G>A (p.Lys533=)
n.1997G>A
n.2016G>A
 dbSNP gnomAD v2 gnomAD v4
4g.1805614G>CCA355981511FGFR3c.1596G>C (p.Lys532Asn)
c.*646G>C (n.*646G>C)
c.1254G>C (p.Lys418Asn)
c.1578G>C (p.Lys526Asn)
c.1590G>C (p.Lys530Asn)
c.1593G>C (p.Lys531Asn)
n.656G>C
c.1602G>C (p.Lys534Asn)
c.1599G>C (p.Lys533Asn)
n.1997G>C
n.2016G>C
4g.1805614G=CA1433507510FGFR3c.1596G= (p.Lys532=)
c.*646G= (n.*646G=)
c.1254G= (p.Lys418=)
c.1578G= (p.Lys526=)
c.1590G= (p.Lys530=)
c.1593G= (p.Lys531=)
n.656G=
c.1602G= (p.Lys534=)
c.1599G= (p.Lys533=)
n.1997G=
n.2016G=
4g.1805614G>TCA355981512FGFR3c.1596G>T (p.Lys532Asn)
c.*646G>T (n.*646G>T)
c.1254G>T (p.Lys418Asn)
c.1578G>T (p.Lys526Asn)
c.1590G>T (p.Lys530Asn)
c.1593G>T (p.Lys531Asn)
n.656G>T
c.1602G>T (p.Lys534Asn)
c.1599G>T (p.Lys533Asn)
n.1997G>T
n.2016G>T
 COSMIC COSMIC
4g.1805615A=CA1433507511FGFR3c.1597A= (p.Met533=)
c.*647A= (n.*647A=)
c.1255A= (p.Met419=)
c.1579A= (p.Met527=)
c.1591A= (p.Met531=)
c.1594A= (p.Met532=)
n.657A=
c.1603A= (p.Met535=)
c.1600A= (p.Met534=)
n.1998A=
n.2017A=
4g.1805615A>CCA355981513FGFR3c.1597A>C (p.Met533Leu)
c.*647A>C (n.*647A>C)
c.1255A>C (p.Met419Leu)
c.1579A>C (p.Met527Leu)
c.1591A>C (p.Met531Leu)
c.1594A>C (p.Met532Leu)
n.657A>C
c.1603A>C (p.Met535Leu)
c.1600A>C (p.Met534Leu)
n.1998A>C
n.2017A>C
4g.1805615A>GCA355981514FGFR3c.1597A>G (p.Met533Val)
c.*647A>G (n.*647A>G)
c.1255A>G (p.Met419Val)
c.1579A>G (p.Met527Val)
c.1591A>G (p.Met531Val)
c.1594A>G (p.Met532Val)
n.657A>G
c.1603A>G (p.Met535Val)
c.1600A>G (p.Met534Val)
n.1998A>G
n.2017A>G
 dbSNP gnomAD v2 gnomAD v4
4g.1805615A>TCA355981515FGFR3c.1597A>T (p.Met533Leu)
c.*647A>T (n.*647A>T)
c.1255A>T (p.Met419Leu)
c.1579A>T (p.Met527Leu)
c.1591A>T (p.Met531Leu)
c.1594A>T (p.Met532Leu)
n.657A>T
c.1603A>T (p.Met535Leu)
c.1600A>T (p.Met534Leu)
n.1998A>T
n.2017A>T
 gnomAD v4
4g.1805616T>ACA355981516FGFR3c.1598T>A (p.Met533Lys)
c.*648T>A (n.*648T>A)
c.1256T>A (p.Met419Lys)
c.1580T>A (p.Met527Lys)
c.1592T>A (p.Met531Lys)
c.1595T>A (p.Met532Lys)
n.658T>A
c.1604T>A (p.Met535Lys)
c.1601T>A (p.Met534Lys)
n.1999T>A
n.2018T>A
4g.1805616T>CCA2810480FGFR3c.1598T>C (p.Met533Thr)
c.*648T>C (n.*648T>C)
c.1256T>C (p.Met419Thr)
c.1580T>C (p.Met527Thr)
c.1592T>C (p.Met531Thr)
c.1595T>C (p.Met532Thr)
n.658T>C
c.1604T>C (p.Met535Thr)
c.1601T>C (p.Met534Thr)
n.1999T>C
n.2018T>C
 dbSNP ExAC gnomAD v2
4g.1805616T>GCA355981517FGFR3c.1598T>G (p.Met533Arg)
c.*648T>G (n.*648T>G)
c.1256T>G (p.Met419Arg)
c.1580T>G (p.Met527Arg)
c.1592T>G (p.Met531Arg)
c.1595T>G (p.Met532Arg)
n.658T>G
c.1604T>G (p.Met535Arg)
c.1601T>G (p.Met534Arg)
n.1999T>G
n.2018T>G
4g.1805616T=CA1433507512FGFR3c.1598T= (p.Met533=)
c.*648T= (n.*648T=)
c.1256T= (p.Met419=)
c.1580T= (p.Met527=)
c.1592T= (p.Met531=)
c.1595T= (p.Met532=)
n.658T=
c.1604T= (p.Met535=)
c.1601T= (p.Met534=)
n.1999T=
n.2018T=
4g.1805617G>ACA355981518FGFR3c.1599G>A (p.Met533Ile)
c.*649G>A (n.*649G>A)
c.1257G>A (p.Met419Ile)
c.1581G>A (p.Met527Ile)
c.1593G>A (p.Met531Ile)
c.1596G>A (p.Met532Ile)
n.659G>A
c.1605G>A (p.Met535Ile)
c.1602G>A (p.Met534Ile)
n.2000G>A
n.2019G>A
 dbSNP
4g.1805617G>CCA355981519FGFR3c.1599G>C (p.Met533Ile)
c.*649G>C (n.*649G>C)
c.1257G>C (p.Met419Ile)
c.1581G>C (p.Met527Ile)
c.1593G>C (p.Met531Ile)
c.1596G>C (p.Met532Ile)
n.659G>C
c.1605G>C (p.Met535Ile)
c.1602G>C (p.Met534Ile)
n.2000G>C
n.2019G>C
4g.1805617G=CA1433507513FGFR3c.1599G= (p.Met533=)
c.*649G= (n.*649G=)
c.1257G= (p.Met419=)
c.1581G= (p.Met527=)
c.1593G= (p.Met531=)
c.1596G= (p.Met532=)
n.659G=
c.1605G= (p.Met535=)
c.1602G= (p.Met534=)
n.2000G=
n.2019G=
4g.1805617G>TCA355981520FGFR3c.1599G>T (p.Met533Ile)
c.*649G>T (n.*649G>T)
c.1257G>T (p.Met419Ile)
c.1581G>T (p.Met527Ile)
c.1593G>T (p.Met531Ile)
c.1596G>T (p.Met532Ile)
n.659G>T
c.1605G>T (p.Met535Ile)
c.1602G>T (p.Met534Ile)
n.2000G>T
n.2019G>T
4g.1805618A>CCA355981521FGFR3c.1600A>C (p.Ile534Leu)
c.*650A>C (n.*650A>C)
c.1258A>C (p.Ile420Leu)
c.1582A>C (p.Ile528Leu)
c.1594A>C (p.Ile532Leu)
c.1597A>C (p.Ile533Leu)
n.660A>C
c.1606A>C (p.Ile536Leu)
c.1603A>C (p.Ile535Leu)
n.2001A>C
n.2020A>C
 gnomAD v4
4g.1805618A>GCA355981522FGFR3c.1600A>G (p.Ile534Val)
c.*650A>G (n.*650A>G)
c.1258A>G (p.Ile420Val)
c.1582A>G (p.Ile528Val)
c.1594A>G (p.Ile532Val)
c.1597A>G (p.Ile533Val)
n.660A>G
c.1606A>G (p.Ile536Val)
c.1603A>G (p.Ile535Val)
n.2001A>G
n.2020A>G
 COSMIC COSMIC
4g.1805618A>TCA355981523FGFR3c.1600A>T (p.Ile534Phe)
c.*650A>T (n.*650A>T)
c.1258A>T (p.Ile420Phe)
c.1582A>T (p.Ile528Phe)
c.1594A>T (p.Ile532Phe)
c.1597A>T (p.Ile533Phe)
n.660A>T
c.1606A>T (p.Ile536Phe)
c.1603A>T (p.Ile535Phe)
n.2001A>T
n.2020A>T
4g.1805619T>ACA355981524FGFR3c.1601T>A (p.Ile534Asn)
c.*651T>A (n.*651T>A)
c.1259T>A (p.Ile420Asn)
c.1583T>A (p.Ile528Asn)
c.1595T>A (p.Ile532Asn)
c.1598T>A (p.Ile533Asn)
n.661T>A
c.1607T>A (p.Ile536Asn)
c.1604T>A (p.Ile535Asn)
n.2002T>A
n.2021T>A
4g.1805619T>CCA355981525FGFR3c.1601T>C (p.Ile534Thr)
c.*651T>C (n.*651T>C)
c.1259T>C (p.Ile420Thr)
c.1583T>C (p.Ile528Thr)
c.1595T>C (p.Ile532Thr)
c.1598T>C (p.Ile533Thr)
n.661T>C
c.1607T>C (p.Ile536Thr)
c.1604T>C (p.Ile535Thr)
n.2002T>C
n.2021T>C
4g.1805619T>GCA355981526FGFR3c.1601T>G (p.Ile534Ser)
c.*651T>G (n.*651T>G)
c.1259T>G (p.Ile420Ser)
c.1583T>G (p.Ile528Ser)
c.1595T>G (p.Ile532Ser)
c.1598T>G (p.Ile533Ser)
n.661T>G
c.1607T>G (p.Ile536Ser)
c.1604T>G (p.Ile535Ser)
n.2002T>G
n.2021T>G
4g.1805620C>ACA438063277FGFR3c.1602C>A (p.Ile534=)
c.*652C>A (n.*652C>A)
c.1260C>A (p.Ile420=)
c.1584C>A (p.Ile528=)
c.1596C>A (p.Ile532=)
c.1599C>A (p.Ile533=)
n.662C>A
c.1608C>A (p.Ile536=)
c.1605C>A (p.Ile535=)
n.2003C>A
n.2022C>A
4g.1805620C=CA1433507514FGFR3c.1602C= (p.Ile534=)
c.*652C= (n.*652C=)
c.1260C= (p.Ile420=)
c.1584C= (p.Ile528=)
c.1596C= (p.Ile532=)
c.1599C= (p.Ile533=)
n.662C=
c.1608C= (p.Ile536=)
c.1605C= (p.Ile535=)
n.2003C=
n.2022C=
4g.1805620C>GCA355981527FGFR3c.1602C>G (p.Ile534Met)
c.*652C>G (n.*652C>G)
c.1260C>G (p.Ile420Met)
c.1584C>G (p.Ile528Met)
c.1596C>G (p.Ile532Met)
c.1599C>G (p.Ile533Met)
n.662C>G
c.1608C>G (p.Ile536Met)
c.1605C>G (p.Ile535Met)
n.2003C>G
n.2022C>G
 dbSNP gnomAD v3 gnomAD v4
4g.1805620C>TCA2810481FGFR3c.1602C>T (p.Ile534=)
c.*652C>T (n.*652C>T)
c.1260C>T (p.Ile420=)
c.1584C>T (p.Ile528=)
c.1596C>T (p.Ile532=)
c.1599C>T (p.Ile533=)
n.662C>T
c.1608C>T (p.Ile536=)
c.1605C>T (p.Ile535=)
n.2003C>T
n.2022C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.1805621G>ACA355981530FGFR3c.1603G>A (p.Gly535Arg)
c.*653G>A (n.*653G>A)
c.1261G>A (p.Gly421Arg)
c.1585G>A (p.Gly529Arg)
c.1597G>A (p.Gly533Arg)
c.1600G>A (p.Gly534Arg)
n.663G>A
c.1609G>A (p.Gly537Arg)
c.1606G>A (p.Gly536Arg)
n.2004G>A
n.2023G>A
 dbSNP gnomAD v4
4g.1805621G>CCA355981529FGFR3c.1603G>C (p.Gly535Arg)
c.*653G>C (n.*653G>C)
c.1261G>C (p.Gly421Arg)
c.1585G>C (p.Gly529Arg)
c.1597G>C (p.Gly533Arg)
c.1600G>C (p.Gly534Arg)
n.663G>C
c.1609G>C (p.Gly537Arg)
c.1606G>C (p.Gly536Arg)
n.2004G>C
n.2023G>C
 gnomAD v4
4g.1805621G>TCA355981528FGFR3c.1603G>T (p.Gly535Trp)
c.*653G>T (n.*653G>T)
c.1261G>T (p.Gly421Trp)
c.1585G>T (p.Gly529Trp)
c.1597G>T (p.Gly533Trp)
c.1600G>T (p.Gly534Trp)
n.663G>T
c.1609G>T (p.Gly537Trp)
c.1606G>T (p.Gly536Trp)
n.2004G>T
n.2023G>T
4g.1805622G>ACA355981531FGFR3c.1604G>A (p.Gly535Glu)
c.*654G>A (n.*654G>A)
c.1262G>A (p.Gly421Glu)
c.1586G>A (p.Gly529Glu)
c.1598G>A (p.Gly533Glu)
c.1601G>A (p.Gly534Glu)
n.664G>A
c.1610G>A (p.Gly537Glu)
c.1607G>A (p.Gly536Glu)
n.2005G>A
n.2024G>A
4g.1805622G>CCA355981533FGFR3c.1604G>C (p.Gly535Ala)
c.*654G>C (n.*654G>C)
c.1262G>C (p.Gly421Ala)
c.1586G>C (p.Gly529Ala)
c.1598G>C (p.Gly533Ala)
c.1601G>C (p.Gly534Ala)
n.664G>C
c.1610G>C (p.Gly537Ala)
c.1607G>C (p.Gly536Ala)
n.2005G>C
n.2024G>C
4g.1805622G>TCA355981532FGFR3c.1604G>T (p.Gly535Val)
c.*654G>T (n.*654G>T)
c.1262G>T (p.Gly421Val)
c.1586G>T (p.Gly529Val)
c.1598G>T (p.Gly533Val)
c.1601G>T (p.Gly534Val)
n.664G>T
c.1610G>T (p.Gly537Val)
c.1607G>T (p.Gly536Val)
n.2005G>T
n.2024G>T
4g.1805623G>ACA438063280FGFR3c.1605G>A (p.Gly535=)
c.*655G>A (n.*655G>A)
c.1263G>A (p.Gly421=)
c.1587G>A (p.Gly529=)
c.1599G>A (p.Gly533=)
c.1602G>A (p.Gly534=)
n.665G>A
c.1611G>A (p.Gly537=)
c.1608G>A (p.Gly536=)
n.2006G>A
n.2025G>A
 dbSNP gnomAD v3 gnomAD v4
4g.1805623G>CCA438063281FGFR3c.1605G>C (p.Gly535=)
c.*655G>C (n.*655G>C)
c.1263G>C (p.Gly421=)
c.1587G>C (p.Gly529=)
c.1599G>C (p.Gly533=)
c.1602G>C (p.Gly534=)
n.665G>C
c.1611G>C (p.Gly537=)
c.1608G>C (p.Gly536=)
n.2006G>C
n.2025G>C
4g.1805623G=CA1433507515FGFR3c.1605G= (p.Gly535=)
c.*655G= (n.*655G=)
c.1263G= (p.Gly421=)
c.1587G= (p.Gly529=)
c.1599G= (p.Gly533=)
c.1602G= (p.Gly534=)
n.665G=
c.1611G= (p.Gly537=)
c.1608G= (p.Gly536=)
n.2006G=
n.2025G=
4g.1805623G>TCA438063279FGFR3c.1605G>T (p.Gly535=)
c.*655G>T (n.*655G>T)
c.1263G>T (p.Gly421=)
c.1587G>T (p.Gly529=)
c.1599G>T (p.Gly533=)
c.1602G>T (p.Gly534=)
n.665G>T
c.1611G>T (p.Gly537=)
c.1608G>T (p.Gly536=)
n.2006G>T
n.2025G>T
4g.1805624A>CCA355981534FGFR3c.1606A>C (p.Lys536Gln)
c.*656A>C (n.*656A>C)
c.1264A>C (p.Lys422Gln)
c.1588A>C (p.Lys530Gln)
c.1600A>C (p.Lys534Gln)
c.1603A>C (p.Lys535Gln)
n.666A>C
c.1612A>C (p.Lys538Gln)
c.1609A>C (p.Lys537Gln)
n.2007A>C
n.2026A>C
4g.1805624A>GCA355981536FGFR3c.1606A>G (p.Lys536Glu)
c.*656A>G (n.*656A>G)
c.1264A>G (p.Lys422Glu)
c.1588A>G (p.Lys530Glu)
c.1600A>G (p.Lys534Glu)
c.1603A>G (p.Lys535Glu)
n.666A>G
c.1612A>G (p.Lys538Glu)
c.1609A>G (p.Lys537Glu)
n.2007A>G
n.2026A>G
4g.1805624A>TCA355981535FGFR3c.1606A>T (p.Lys536Ter)
c.*656A>T (n.*656A>T)
c.1264A>T (p.Lys422Ter)
c.1588A>T (p.Lys530Ter)
c.1600A>T (p.Lys534Ter)
c.1603A>T (p.Lys535Ter)
n.666A>T
c.1612A>T (p.Lys538Ter)
c.1609A>T (p.Lys537Ter)
n.2007A>T
n.2026A>T
4g.1805625A>CCA355981537FGFR3c.1607A>C (p.Lys536Thr)
c.*657A>C (n.*657A>C)
c.1265A>C (p.Lys422Thr)
c.1589A>C (p.Lys530Thr)
c.1601A>C (p.Lys534Thr)
c.1604A>C (p.Lys535Thr)
n.667A>C
c.1613A>C (p.Lys538Thr)
c.1610A>C (p.Lys537Thr)
n.2008A>C
n.2027A>C
4g.1805625A>GCA355981539FGFR3c.1607A>G (p.Lys536Arg)
c.*657A>G (n.*657A>G)
c.1265A>G (p.Lys422Arg)
c.1589A>G (p.Lys530Arg)
c.1601A>G (p.Lys534Arg)
c.1604A>G (p.Lys535Arg)
n.667A>G
c.1613A>G (p.Lys538Arg)
c.1610A>G (p.Lys537Arg)
n.2008A>G
n.2027A>G
4g.1805625A>TCA355981538FGFR3c.1607A>T (p.Lys536Ile)
c.*657A>T (n.*657A>T)
c.1265A>T (p.Lys422Ile)
c.1589A>T (p.Lys530Ile)
c.1601A>T (p.Lys534Ile)
c.1604A>T (p.Lys535Ile)
n.667A>T
c.1613A>T (p.Lys538Ile)
c.1610A>T (p.Lys537Ile)
n.2008A>T
n.2027A>T
4g.1805626A=CA1433507516FGFR3c.1608A= (p.Lys536=)
c.*658A= (n.*658A=)
c.1266A= (p.Lys422=)
c.1590A= (p.Lys530=)
c.1602A= (p.Lys534=)
c.1605A= (p.Lys535=)
n.668A=
c.1614A= (p.Lys538=)
c.1611A= (p.Lys537=)
n.2009A=
n.2028A=
4g.1805626A>CCA355981540FGFR3c.1608A>C (p.Lys536Asn)
c.*658A>C (n.*658A>C)
c.1266A>C (p.Lys422Asn)
c.1590A>C (p.Lys530Asn)
c.1602A>C (p.Lys534Asn)
c.1605A>C (p.Lys535Asn)
n.668A>C
c.1614A>C (p.Lys538Asn)
c.1611A>C (p.Lys537Asn)
n.2009A>C
n.2028A>C
4g.1805626A>GCA2810482FGFR3c.1608A>G (p.Lys536=)
c.*658A>G (n.*658A>G)
c.1266A>G (p.Lys422=)
c.1590A>G (p.Lys530=)
c.1602A>G (p.Lys534=)
c.1605A>G (p.Lys535=)
n.668A>G
c.1614A>G (p.Lys538=)
c.1611A>G (p.Lys537=)
n.2009A>G
n.2028A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1805626A>TCA355981541FGFR3c.1608A>T (p.Lys536Asn)
c.*658A>T (n.*658A>T)
c.1266A>T (p.Lys422Asn)
c.1590A>T (p.Lys530Asn)
c.1602A>T (p.Lys534Asn)
c.1605A>T (p.Lys535Asn)
n.668A>T
c.1614A>T (p.Lys538Asn)
c.1611A>T (p.Lys537Asn)
n.2009A>T
n.2028A>T
4g.1805627C>ACA355981542FGFR3c.1609C>A (p.His537Asn)
c.*659C>A (n.*659C>A)
c.1267C>A (p.His423Asn)
c.1591C>A (p.His531Asn)
c.1603C>A (p.His535Asn)
c.1606C>A (p.His536Asn)
n.669C>A
c.1615C>A (p.His539Asn)
c.1612C>A (p.His538Asn)
n.2010C>A
n.2029C>A
4g.1805627C>GCA355981543FGFR3c.1609C>G (p.His537Asp)
c.*659C>G (n.*659C>G)
c.1267C>G (p.His423Asp)
c.1591C>G (p.His531Asp)
c.1603C>G (p.His535Asp)
c.1606C>G (p.His536Asp)
n.669C>G
c.1615C>G (p.His539Asp)
c.1612C>G (p.His538Asp)
n.2010C>G
n.2029C>G
4g.1805627C>TCA355981544FGFR3c.1609C>T (p.His537Tyr)
c.*659C>T (n.*659C>T)
c.1267C>T (p.His423Tyr)
c.1591C>T (p.His531Tyr)
c.1603C>T (p.His535Tyr)
c.1606C>T (p.His536Tyr)
n.669C>T
c.1615C>T (p.His539Tyr)
c.1612C>T (p.His538Tyr)
n.2010C>T
n.2029C>T
4g.1805628A>CCA355981547FGFR3c.1610A>C (p.His537Pro)
c.*660A>C (n.*660A>C)
c.1268A>C (p.His423Pro)
c.1592A>C (p.His531Pro)
c.1604A>C (p.His535Pro)
c.1607A>C (p.His536Pro)
n.670A>C
c.1616A>C (p.His539Pro)
c.1613A>C (p.His538Pro)
n.2011A>C
n.2030A>C
4g.1805628A>GCA355981545FGFR3c.1610A>G (p.His537Arg)
c.*660A>G (n.*660A>G)
c.1268A>G (p.His423Arg)
c.1592A>G (p.His531Arg)
c.1604A>G (p.His535Arg)
c.1607A>G (p.His536Arg)
n.670A>G
c.1616A>G (p.His539Arg)
c.1613A>G (p.His538Arg)
n.2011A>G
n.2030A>G
4g.1805628A>TCA355981546FGFR3c.1610A>T (p.His537Leu)
c.*660A>T (n.*660A>T)
c.1268A>T (p.His423Leu)
c.1592A>T (p.His531Leu)
c.1604A>T (p.His535Leu)
c.1607A>T (p.His536Leu)
n.670A>T
c.1616A>T (p.His539Leu)
c.1613A>T (p.His538Leu)
n.2011A>T
n.2030A>T
4g.1805629C>ACA355981548FGFR3c.1611C>A (p.His537Gln)
c.*661C>A (n.*661C>A)
c.1269C>A (p.His423Gln)
c.1593C>A (p.His531Gln)
c.1605C>A (p.His535Gln)
c.1608C>A (p.His536Gln)
n.671C>A
c.1617C>A (p.His539Gln)
c.1614C>A (p.His538Gln)
n.2012C>A
n.2031C>A
4g.1805629C=CA1433507517FGFR3c.1611C= (p.His537=)
c.*661C= (n.*661C=)
c.1269C= (p.His423=)
c.1593C= (p.His531=)
c.1605C= (p.His535=)
c.1608C= (p.His536=)
n.671C=
c.1617C= (p.His539=)
c.1614C= (p.His538=)
n.2012C=
n.2031C=
4g.1805629C>GCA355981549FGFR3c.1611C>G (p.His537Gln)
c.*661C>G (n.*661C>G)
c.1269C>G (p.His423Gln)
c.1593C>G (p.His531Gln)
c.1605C>G (p.His535Gln)
c.1608C>G (p.His536Gln)
n.671C>G
c.1617C>G (p.His539Gln)
c.1614C>G (p.His538Gln)
n.2012C>G
n.2031C>G
 gnomAD v4
4g.1805629C>TCA438063292FGFR3c.1611C>T (p.His537=)
c.*661C>T (n.*661C>T)
c.1269C>T (p.His423=)
c.1593C>T (p.His531=)
c.1605C>T (p.His535=)
c.1608C>T (p.His536=)
n.671C>T
c.1617C>T (p.His539=)
c.1614C>T (p.His538=)
n.2012C>T
n.2031C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1805630A=CA1433507518FGFR3c.1612A= (p.Lys538=)
c.*662A= (n.*662A=)
c.1270A= (p.Lys424=)
c.1594A= (p.Lys532=)
c.1606A= (p.Lys536=)
c.1609A= (p.Lys537=)
n.672A=
c.1618A= (p.Lys540=)
c.1615A= (p.Lys539=)
n.2013A=
n.2032A=
4g.1805630A>CCA355981550FGFR3c.1612A>C (p.Lys538Gln)
c.*662A>C (n.*662A>C)
c.1270A>C (p.Lys424Gln)
c.1594A>C (p.Lys532Gln)
c.1606A>C (p.Lys536Gln)
c.1609A>C (p.Lys537Gln)
n.672A>C
c.1618A>C (p.Lys540Gln)
c.1615A>C (p.Lys539Gln)
n.2013A>C
n.2032A>C
4g.1805630A>GCA355981551FGFR3c.1612A>G (p.Lys538Glu)
c.*662A>G (n.*662A>G)
c.1270A>G (p.Lys424Glu)
c.1594A>G (p.Lys532Glu)
c.1606A>G (p.Lys536Glu)
c.1609A>G (p.Lys537Glu)
n.672A>G
c.1618A>G (p.Lys540Glu)
c.1615A>G (p.Lys539Glu)
n.2013A>G
n.2032A>G
 ClinVar dbSNP gnomAD v4
4g.1805630A>TCA355981552FGFR3c.1612A>T (p.Lys538Ter)
c.*662A>T (n.*662A>T)
c.1270A>T (p.Lys424Ter)
c.1594A>T (p.Lys532Ter)
c.1606A>T (p.Lys536Ter)
c.1609A>T (p.Lys537Ter)
n.672A>T
c.1618A>T (p.Lys540Ter)
c.1615A>T (p.Lys539Ter)
n.2013A>T
n.2032A>T
4g.1805634delCA2704962320FGFR3c.1616del (p.Asn539ThrfsTer?)
c.*666del (n.*666del)
c.1274del (p.Asn425ThrfsTer?)
c.1598del (p.Asn533ThrfsTer?)
c.1610del (p.Asn537ThrfsTer?)
c.1613del (p.Asn538ThrfsTer?)
n.676del
c.1622del (p.Asn541ThrfsTer?)
c.1619del (p.Asn540ThrfsTer?)
n.2017del
n.2036del
 dbSNP
4g.1805631A>CCA355981553FGFR3c.1613A>C (p.Lys538Thr)
c.*663A>C (n.*663A>C)
c.1271A>C (p.Lys424Thr)
c.1595A>C (p.Lys532Thr)
c.1607A>C (p.Lys536Thr)
c.1610A>C (p.Lys537Thr)
n.673A>C
c.1619A>C (p.Lys540Thr)
c.1616A>C (p.Lys539Thr)
n.2014A>C
n.2033A>C
4g.1805631A>GCA355981555FGFR3c.1613A>G (p.Lys538Arg)
c.*663A>G (n.*663A>G)
c.1271A>G (p.Lys424Arg)
c.1595A>G (p.Lys532Arg)
c.1607A>G (p.Lys536Arg)
c.1610A>G (p.Lys537Arg)
n.673A>G
c.1619A>G (p.Lys540Arg)
c.1616A>G (p.Lys539Arg)
n.2014A>G
n.2033A>G
4g.1805631A>TCA355981554FGFR3c.1613A>T (p.Lys538Ile)
c.*663A>T (n.*663A>T)
c.1271A>T (p.Lys424Ile)
c.1595A>T (p.Lys532Ile)
c.1607A>T (p.Lys536Ile)
c.1610A>T (p.Lys537Ile)
n.673A>T
c.1619A>T (p.Lys540Ile)
c.1616A>T (p.Lys539Ile)
n.2014A>T
n.2033A>T
4g.1805632A>CCA355981556FGFR3c.1614A>C (p.Lys538Asn)
c.*664A>C (n.*664A>C)
c.1272A>C (p.Lys424Asn)
c.1596A>C (p.Lys532Asn)
c.1608A>C (p.Lys536Asn)
c.1611A>C (p.Lys537Asn)
n.674A>C
c.1620A>C (p.Lys540Asn)
c.1617A>C (p.Lys539Asn)
n.2015A>C
n.2034A>C
4g.1805632A>GCA438063300FGFR3c.1614A>G (p.Lys538=)
c.*664A>G (n.*664A>G)
c.1272A>G (p.Lys424=)
c.1596A>G (p.Lys532=)
c.1608A>G (p.Lys536=)
c.1611A>G (p.Lys537=)
n.674A>G
c.1620A>G (p.Lys540=)
c.1617A>G (p.Lys539=)
n.2015A>G
n.2034A>G
 ClinVar dbSNP gnomAD v4
4g.1805632A>TCA355981557FGFR3c.1614A>T (p.Lys538Asn)
c.*664A>T (n.*664A>T)
c.1272A>T (p.Lys424Asn)
c.1596A>T (p.Lys532Asn)
c.1608A>T (p.Lys536Asn)
c.1611A>T (p.Lys537Asn)
n.674A>T
c.1620A>T (p.Lys540Asn)
c.1617A>T (p.Lys539Asn)
n.2015A>T
n.2034A>T
4g.1805633A>CCA355981558FGFR3c.1615A>C (p.Asn539His)
c.*665A>C (n.*665A>C)
c.1273A>C (p.Asn425His)
c.1597A>C (p.Asn533His)
c.1609A>C (p.Asn537His)
c.1612A>C (p.Asn538His)
n.675A>C
c.1621A>C (p.Asn541His)
c.1618A>C (p.Asn540His)
n.2016A>C
n.2035A>C
4g.1805633A>GCA355981559FGFR3c.1615A>G (p.Asn539Asp)
c.*665A>G (n.*665A>G)
c.1273A>G (p.Asn425Asp)
c.1597A>G (p.Asn533Asp)
c.1609A>G (p.Asn537Asp)
c.1612A>G (p.Asn538Asp)
n.675A>G
c.1621A>G (p.Asn541Asp)
c.1618A>G (p.Asn540Asp)
n.2016A>G
n.2035A>G
4g.1805633A>TCA355981560FGFR3c.1615A>T (p.Asn539Tyr)
c.*665A>T (n.*665A>T)
c.1273A>T (p.Asn425Tyr)
c.1597A>T (p.Asn533Tyr)
c.1609A>T (p.Asn537Tyr)
c.1612A>T (p.Asn538Tyr)
n.675A>T
c.1621A>T (p.Asn541Tyr)
c.1618A>T (p.Asn540Tyr)
n.2016A>T
n.2035A>T
4g.1805634A>CCA355981561FGFR3c.1616A>C (p.Asn539Thr)
c.*666A>C (n.*666A>C)
c.1274A>C (p.Asn425Thr)
c.1598A>C (p.Asn533Thr)
c.1610A>C (p.Asn537Thr)
c.1613A>C (p.Asn538Thr)
n.676A>C
c.1622A>C (p.Asn541Thr)
c.1619A>C (p.Asn540Thr)
n.2017A>C
n.2036A>C
 dbSNP
4g.1805634A>GCA355981562FGFR3c.1616A>G (p.Asn539Ser)
c.*666A>G (n.*666A>G)
c.1274A>G (p.Asn425Ser)
c.1598A>G (p.Asn533Ser)
c.1610A>G (p.Asn537Ser)
c.1613A>G (p.Asn538Ser)
n.676A>G
c.1622A>G (p.Asn541Ser)
c.1619A>G (p.Asn540Ser)
n.2017A>G
n.2036A>G
4g.1805634A>TCA355981563FGFR3c.1616A>T (p.Asn539Ile)
c.*666A>T (n.*666A>T)
c.1274A>T (p.Asn425Ile)
c.1598A>T (p.Asn533Ile)
c.1610A>T (p.Asn537Ile)
c.1613A>T (p.Asn538Ile)
n.676A>T
c.1622A>T (p.Asn541Ile)
c.1619A>T (p.Asn540Ile)
n.2017A>T
n.2036A>T
4g.1805635C>ACA355981564FGFR3c.1617C>A (p.Asn539Lys)
c.*667C>A (n.*667C>A)
c.1275C>A (p.Asn425Lys)
c.1599C>A (p.Asn533Lys)
c.1611C>A (p.Asn537Lys)
c.1614C>A (p.Asn538Lys)
n.677C>A
c.1623C>A (p.Asn541Lys)
c.1620C>A (p.Asn540Lys)
n.2018C>A
n.2037C>A
4g.1805635C=CA1433507519FGFR3c.1617C= (p.Asn539=)
c.*667C= (n.*667C=)
c.1275C= (p.Asn425=)
c.1599C= (p.Asn533=)
c.1611C= (p.Asn537=)
c.1614C= (p.Asn538=)
n.677C=
c.1623C= (p.Asn541=)
c.1620C= (p.Asn540=)
n.2018C=
n.2037C=
4g.1805635C>GCA355981565FGFR3c.1617C>G (p.Asn539Lys)
c.*667C>G (n.*667C>G)
c.1275C>G (p.Asn425Lys)
c.1599C>G (p.Asn533Lys)
c.1611C>G (p.Asn537Lys)
c.1614C>G (p.Asn538Lys)
n.677C>G
c.1623C>G (p.Asn541Lys)
c.1620C>G (p.Asn540Lys)
n.2018C>G
n.2037C>G
4g.1805635C>TCA438063307FGFR3c.1617C>T (p.Asn539=)
c.*667C>T (n.*667C>T)
c.1275C>T (p.Asn425=)
c.1599C>T (p.Asn533=)
c.1611C>T (p.Asn537=)
c.1614C>T (p.Asn538=)
n.677C>T
c.1623C>T (p.Asn541=)
c.1620C>T (p.Asn540=)
n.2018C>T
n.2037C>T
 dbSNP gnomAD v2
4g.1805636A=CA1433507520FGFR3c.1618A= (p.Ile540=)
c.*668A= (n.*668A=)
c.1276A= (p.Ile426=)
c.1600A= (p.Ile534=)
c.1612A= (p.Ile538=)
c.1615A= (p.Ile539=)
n.678A=
c.1624A= (p.Ile542=)
c.1621A= (p.Ile541=)
n.2019A=
n.2038A=
4g.1805636A>CCA355981566FGFR3c.1618A>C (p.Ile540Leu)
c.*668A>C (n.*668A>C)
c.1276A>C (p.Ile426Leu)
c.1600A>C (p.Ile534Leu)
c.1612A>C (p.Ile538Leu)
c.1615A>C (p.Ile539Leu)
n.678A>C
c.1624A>C (p.Ile542Leu)
c.1621A>C (p.Ile541Leu)
n.2019A>C
n.2038A>C
4g.1805636A>GCA341417FGFR3c.1618A>G (p.Ile540Val)
c.*668A>G (n.*668A>G)
c.1276A>G (p.Ile426Val)
c.1600A>G (p.Ile534Val)
c.1612A>G (p.Ile538Val)
c.1615A>G (p.Ile539Val)
n.678A>G
c.1624A>G (p.Ile542Val)
c.1621A>G (p.Ile541Val)
n.2019A>G
n.2038A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1805636A>TCA355981567FGFR3c.1618A>T (p.Ile540Phe)
c.*668A>T (n.*668A>T)
c.1276A>T (p.Ile426Phe)
c.1600A>T (p.Ile534Phe)
c.1612A>T (p.Ile538Phe)
c.1615A>T (p.Ile539Phe)
n.678A>T
c.1624A>T (p.Ile542Phe)
c.1621A>T (p.Ile541Phe)
n.2019A>T
n.2038A>T
 COSMIC
4g.1805637T>ACA355981568FGFR3c.1619T>A (p.Ile540Asn)
c.*669T>A (n.*669T>A)
c.1277T>A (p.Ile426Asn)
c.1601T>A (p.Ile534Asn)
c.1613T>A (p.Ile538Asn)
c.1616T>A (p.Ile539Asn)
n.679T>A
c.1625T>A (p.Ile542Asn)
c.1622T>A (p.Ile541Asn)
n.2020T>A
n.2039T>A
4g.1805637T>CCA355981569FGFR3c.1619T>C (p.Ile540Thr)
c.*669T>C (n.*669T>C)
c.1277T>C (p.Ile426Thr)
c.1601T>C (p.Ile534Thr)
c.1613T>C (p.Ile538Thr)
c.1616T>C (p.Ile539Thr)
n.679T>C
c.1625T>C (p.Ile542Thr)
c.1622T>C (p.Ile541Thr)
n.2020T>C
n.2039T>C
4g.1805637T>GCA355981570FGFR3c.1619T>G (p.Ile540Ser)
c.*669T>G (n.*669T>G)
c.1277T>G (p.Ile426Ser)
c.1601T>G (p.Ile534Ser)
c.1613T>G (p.Ile538Ser)
c.1616T>G (p.Ile539Ser)
n.679T>G
c.1625T>G (p.Ile542Ser)
c.1622T>G (p.Ile541Ser)
n.2020T>G
n.2039T>G
4g.1805638C>ACA438063309FGFR3c.1620C>A (p.Ile540=)
c.*670C>A (n.*670C>A)
c.1278C>A (p.Ile426=)
c.1602C>A (p.Ile534=)
c.1614C>A (p.Ile538=)
c.1617C>A (p.Ile539=)
n.680C>A
c.1626C>A (p.Ile542=)
c.1623C>A (p.Ile541=)
n.2021C>A
n.2040C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1805638C=CA1433507521FGFR3c.1620C= (p.Ile540=)
c.*670C= (n.*670C=)
c.1278C= (p.Ile426=)
c.1602C= (p.Ile534=)
c.1614C= (p.Ile538=)
c.1617C= (p.Ile539=)
n.680C=
c.1626C= (p.Ile542=)
c.1623C= (p.Ile541=)
n.2021C=
n.2040C=
4g.1805638C>GCA355981571FGFR3c.1620C>G (p.Ile540Met)
c.*670C>G (n.*670C>G)
c.1278C>G (p.Ile426Met)
c.1602C>G (p.Ile534Met)
c.1614C>G (p.Ile538Met)
c.1617C>G (p.Ile539Met)
n.680C>G
c.1626C>G (p.Ile542Met)
c.1623C>G (p.Ile541Met)
n.2021C>G
n.2040C>G
4g.1805638C>TCA438063310FGFR3c.1620C>T (p.Ile540=)
c.*670C>T (n.*670C>T)
c.1278C>T (p.Ile426=)
c.1602C>T (p.Ile534=)
c.1614C>T (p.Ile538=)
c.1617C>T (p.Ile539=)
n.680C>T
c.1626C>T (p.Ile542=)
c.1623C>T (p.Ile541=)
n.2021C>T
n.2040C>T
 dbSNP gnomAD v4
4g.1805639A>CCA355981572FGFR3c.1621A>C (p.Ile541Leu)
c.*671A>C (n.*671A>C)
c.1279A>C (p.Ile427Leu)
c.1603A>C (p.Ile535Leu)
c.1615A>C (p.Ile539Leu)
c.1618A>C (p.Ile540Leu)
n.681A>C
c.1627A>C (p.Ile543Leu)
c.1624A>C (p.Ile542Leu)
n.2022A>C
n.2041A>C
4g.1805639A>GCA355981573FGFR3c.1621A>G (p.Ile541Val)
c.*671A>G (n.*671A>G)
c.1279A>G (p.Ile427Val)
c.1603A>G (p.Ile535Val)
c.1615A>G (p.Ile539Val)
c.1618A>G (p.Ile540Val)
n.681A>G
c.1627A>G (p.Ile543Val)
c.1624A>G (p.Ile542Val)
n.2022A>G
n.2041A>G
4g.1805639A>TCA355981574FGFR3c.1621A>T (p.Ile541Phe)
c.*671A>T (n.*671A>T)
c.1279A>T (p.Ile427Phe)
c.1603A>T (p.Ile535Phe)
c.1615A>T (p.Ile539Phe)
c.1618A>T (p.Ile540Phe)
n.681A>T
c.1627A>T (p.Ile543Phe)
c.1624A>T (p.Ile542Phe)
n.2022A>T
n.2041A>T
4g.1805640T>ACA355981575FGFR3c.1622T>A (p.Ile541Asn)
c.*672T>A (n.*672T>A)
c.1280T>A (p.Ile427Asn)
c.1604T>A (p.Ile535Asn)
c.1616T>A (p.Ile539Asn)
c.1619T>A (p.Ile540Asn)
n.682T>A
c.1628T>A (p.Ile543Asn)
c.1625T>A (p.Ile542Asn)
n.2023T>A
n.2042T>A
 dbSNP
4g.1805640T>CCA355981576FGFR3c.1622T>C (p.Ile541Thr)
c.*672T>C (n.*672T>C)
c.1280T>C (p.Ile427Thr)
c.1604T>C (p.Ile535Thr)
c.1616T>C (p.Ile539Thr)
c.1619T>C (p.Ile540Thr)
n.682T>C
c.1628T>C (p.Ile543Thr)
c.1625T>C (p.Ile542Thr)
n.2023T>C
n.2042T>C
4g.1805640T>GCA355981577FGFR3c.1622T>G (p.Ile541Ser)
c.*672T>G (n.*672T>G)
c.1280T>G (p.Ile427Ser)
c.1604T>G (p.Ile535Ser)
c.1616T>G (p.Ile539Ser)
c.1619T>G (p.Ile540Ser)
n.682T>G
c.1628T>G (p.Ile543Ser)
c.1625T>G (p.Ile542Ser)
n.2023T>G
n.2042T>G
4g.1805641C>ACA438063315FGFR3c.1623C>A (p.Ile541=)
c.*673C>A (n.*673C>A)
c.1281C>A (p.Ile427=)
c.1605C>A (p.Ile535=)
c.1617C>A (p.Ile539=)
c.1620C>A (p.Ile540=)
n.683C>A
c.1629C>A (p.Ile543=)
c.1626C>A (p.Ile542=)
n.2024C>A
n.2043C>A
4g.1805641C=CA1433507522FGFR3c.1623C= (p.Ile541=)
c.*673C= (n.*673C=)
c.1281C= (p.Ile427=)
c.1605C= (p.Ile535=)
c.1617C= (p.Ile539=)
c.1620C= (p.Ile540=)
n.683C=
c.1629C= (p.Ile543=)
c.1626C= (p.Ile542=)
n.2024C=
n.2043C=
4g.1805641C>GCA355981578FGFR3c.1623C>G (p.Ile541Met)
c.*673C>G (n.*673C>G)
c.1281C>G (p.Ile427Met)
c.1605C>G (p.Ile535Met)
c.1617C>G (p.Ile539Met)
c.1620C>G (p.Ile540Met)
n.683C>G
c.1629C>G (p.Ile543Met)
c.1626C>G (p.Ile542Met)
n.2024C>G
n.2043C>G
4g.1805641C>TCA2810483FGFR3c.1623C>T (p.Ile541=)
c.*673C>T (n.*673C>T)
c.1281C>T (p.Ile427=)
c.1605C>T (p.Ile535=)
c.1617C>T (p.Ile539=)
c.1620C>T (p.Ile540=)
n.683C>T
c.1629C>T (p.Ile543=)
c.1626C>T (p.Ile542=)
n.2024C>T
n.2043C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1805642A=CA1433507523FGFR3c.1624A= (p.Asn542=)
c.*674A= (n.*674A=)
c.1282A= (p.Asn428=)
c.1606A= (p.Asn536=)
c.1618A= (p.Asn540=)
c.1621A= (p.Asn541=)
n.684A=
c.1630A= (p.Asn544=)
c.1627A= (p.Asn543=)
n.2025A=
n.2044A=
4g.1805642A>CCA355981579FGFR3c.1624A>C (p.Asn542His)
c.*674A>C (n.*674A>C)
c.1282A>C (p.Asn428His)
c.1606A>C (p.Asn536His)
c.1618A>C (p.Asn540His)
c.1621A>C (p.Asn541His)
n.684A>C
c.1630A>C (p.Asn544His)
c.1627A>C (p.Asn543His)
n.2025A>C
n.2044A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1805642A>GCA16043904FGFR3c.1624A>G (p.Asn542Asp)
c.*674A>G (n.*674A>G)
c.1282A>G (p.Asn428Asp)
c.1606A>G (p.Asn536Asp)
c.1618A>G (p.Asn540Asp)
c.1621A>G (p.Asn541Asp)
n.684A>G
c.1630A>G (p.Asn544Asp)
c.1627A>G (p.Asn543Asp)
n.2025A>G
n.2044A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1805642A>TCA355981580FGFR3c.1624A>T (p.Asn542Tyr)
c.*674A>T (n.*674A>T)
c.1282A>T (p.Asn428Tyr)
c.1606A>T (p.Asn536Tyr)
c.1618A>T (p.Asn540Tyr)
c.1621A>T (p.Asn541Tyr)
n.684A>T
c.1630A>T (p.Asn544Tyr)
c.1627A>T (p.Asn543Tyr)
n.2025A>T
n.2044A>T
4g.1805643A=CA1433507524FGFR3c.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=
4g.1805643A>CCA341415FGFR3c.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
4g.1805643A>GCA341420FGFR3c.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
4g.1805643A>TCA355981581FGFR3c.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
4g.1805644C>ACA341410FGFR3c.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
4g.1805644C=CA1433507525FGFR3c.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=
4g.1805644C>GCA341412FGFR3c.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
4g.1805644C>TCA2810484FGFR3c.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
4g.1805645C>ACA355981582FGFR3c.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
4g.1805645C=CA1433507526FGFR3c.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=
4g.1805645C>GCA355981583FGFR3c.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
4g.1805645C>TCA2810485FGFR3c.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
4g.1805646T>ACA355981585FGFR3c.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
4g.1805646T>CCA355981586FGFR3c.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
4g.1805646T>GCA355981584FGFR3c.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
4g.1805647G>ACA2810487FGFR3c.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
4g.1805647G>CCA2810486FGFR3c.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
4g.1805647G=CA1433507527FGFR3c.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=
4g.1805647G>TCA438063323FGFR3c.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
4g.1805648C>ACA355981587FGFR3c.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
4g.1805648C=CA1433507528FGFR3c.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=
4g.1805648C>GCA355981588FGFR3c.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
4g.1805648C>TCA2810488FGFR3c.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
4g.1805649T>ACA355981589FGFR3c.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
4g.1805649T>CCA355981590FGFR3c.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
4g.1805649T>GCA355981591FGFR3c.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
4g.1805649T=CA1433507529FGFR3c.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=
4g.1805650G>ACA438063330FGFR3c.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
4g.1805650G>CCA438063331FGFR3c.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
4g.1805650G>TCA438063329FGFR3c.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
4g.1805651G>ACA355981592FGFR3c.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
4g.1805651G>CCA355981593FGFR3c.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
4g.1805651G>TCA355981594FGFR3c.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
4g.1805652G>ACA355981595FGFR3c.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
4g.1805652G>CCA355981596FGFR3c.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
4g.1805652G>TCA355981597FGFR3c.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
4g.1805653C>ACA438063333FGFR3c.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
4g.1805653C=CA1433507530FGFR3c.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=
4g.1805653C>GCA2810490FGFR3c.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
4g.1805653C>TCA2810489FGFR3c.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
4g.1805654G>ACA355981598FGFR3c.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
4g.1805654G>CCA355981599FGFR3c.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
4g.1805654G=CA1433507531FGFR3c.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=
4g.1805654G>TCA2810491FGFR3c.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
4g.1805655C>ACA355981600FGFR3c.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
4g.1805655C>GCA355981601FGFR3c.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
4g.1805655C>TCA355981602FGFR3c.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
4g.1805656C>ACA438063339FGFR3c.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
4g.1805656C=CA1433507532FGFR3c.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=
4g.1805656C>GCA438063340FGFR3c.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
4g.1805656C>TCA438063341FGFR3c.1638C>T (p.Ala546=)
c.*688C>T (n.*688C>T)
c.1296C>T (p.Ala432=)
c.1620C>T (p.Ala540=)
c.1632C>T (p.Ala544=)
c.1635C>T (p.Ala545=)
n.698C>T
c.1644C>T (p.Ala548=)
c.1641C>T (p.Ala547=)
n.2039C>T
n.2058C>T
 dbSNP gnomAD v4
4g.1805657T>ACA355981603FGFR3c.1639T>A (p.Cys547Ser)
c.*689T>A (n.*689T>A)
c.1297T>A (p.Cys433Ser)
c.1621T>A (p.Cys541Ser)
c.1633T>A (p.Cys545Ser)
c.1636T>A (p.Cys546Ser)
n.699T>A
c.1645T>A (p.Cys549Ser)
c.1642T>A (p.Cys548Ser)
n.2040T>A
n.2059T>A
4g.1805657T>CCA355981604FGFR3c.1639T>C (p.Cys547Arg)
c.*689T>C (n.*689T>C)
c.1297T>C (p.Cys433Arg)
c.1621T>C (p.Cys541Arg)
c.1633T>C (p.Cys545Arg)
c.1636T>C (p.Cys546Arg)
n.699T>C
c.1645T>C (p.Cys549Arg)
c.1642T>C (p.Cys548Arg)
n.2040T>C
n.2059T>C
4g.1805657T>GCA355981605FGFR3c.1639T>G (p.Cys547Gly)
c.*689T>G (n.*689T>G)
c.1297T>G (p.Cys433Gly)
c.1621T>G (p.Cys541Gly)
c.1633T>G (p.Cys545Gly)
c.1636T>G (p.Cys546Gly)
n.699T>G
c.1645T>G (p.Cys549Gly)
c.1642T>G (p.Cys548Gly)
n.2040T>G
n.2059T>G
4g.1805657_1805658delCA2580070697FGFR3c.1639_1640del (p.Cys547HisfsTer17)
c.*689_*690del (n.*689_*690del)
c.1297_1298del (p.Cys433HisfsTer17)
c.1621_1622del (p.Cys541HisfsTer17)
c.1633_1634del (p.Cys545HisfsTer17)
c.1636_1637del (p.Cys546HisfsTer17)
n.699_700del
c.1645_1646del (p.Cys549HisfsTer17)
c.1642_1643del (p.Cys548HisfsTer17)
n.2040_2041del
n.2059_2060del
 ClinVar
4g.1805658G>ACA355981606FGFR3c.1640G>A (p.Cys547Tyr)
c.*690G>A (n.*690G>A)
c.1298G>A (p.Cys433Tyr)
c.1622G>A (p.Cys541Tyr)
c.1634G>A (p.Cys545Tyr)
c.1637G>A (p.Cys546Tyr)
n.700G>A
c.1646G>A (p.Cys549Tyr)
c.1643G>A (p.Cys548Tyr)
n.2041G>A
n.2060G>A
 dbSNP
4g.1805658G>CCA355981607FGFR3c.1640G>C (p.Cys547Ser)
c.*690G>C (n.*690G>C)
c.1298G>C (p.Cys433Ser)
c.1622G>C (p.Cys541Ser)
c.1634G>C (p.Cys545Ser)
c.1637G>C (p.Cys546Ser)
n.700G>C
c.1646G>C (p.Cys549Ser)
c.1643G>C (p.Cys548Ser)
n.2041G>C
n.2060G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1805658G=CA1433507533FGFR3c.1640G= (p.Cys547=)
c.*690G= (n.*690G=)
c.1298G= (p.Cys433=)
c.1622G= (p.Cys541=)
c.1634G= (p.Cys545=)
c.1637G= (p.Cys546=)
n.700G=
c.1646G= (p.Cys549=)
c.1643G= (p.Cys548=)
n.2041G=
n.2060G=
4g.1805658G>TCA355981608FGFR3c.1640G>T (p.Cys547Phe)
c.*690G>T (n.*690G>T)
c.1298G>T (p.Cys433Phe)
c.1622G>T (p.Cys541Phe)
c.1634G>T (p.Cys545Phe)
c.1637G>T (p.Cys546Phe)
n.700G>T
c.1646G>T (p.Cys549Phe)
c.1643G>T (p.Cys548Phe)
n.2041G>T
n.2060G>T
4g.1805659C>ACA355981610FGFR3c.1641C>A (p.Cys547Ter)
c.*691C>A (n.*691C>A)
c.1299C>A (p.Cys433Ter)
c.1623C>A (p.Cys541Ter)
c.1635C>A (p.Cys545Ter)
c.1638C>A (p.Cys546Ter)
n.701C>A
c.1647C>A (p.Cys549Ter)
c.1644C>A (p.Cys548Ter)
n.2042C>A
n.2061C>A
4g.1805659C=CA1433507534FGFR3c.1641C= (p.Cys547=)
c.*691C= (n.*691C=)
c.1299C= (p.Cys433=)
c.1623C= (p.Cys541=)
c.1635C= (p.Cys545=)
c.1638C= (p.Cys546=)
n.701C=
c.1647C= (p.Cys549=)
c.1644C= (p.Cys548=)
n.2042C=
n.2061C=
4g.1805659C>GCA355981609FGFR3c.1641C>G (p.Cys547Trp)
c.*691C>G (n.*691C>G)
c.1299C>G (p.Cys433Trp)
c.1623C>G (p.Cys541Trp)
c.1635C>G (p.Cys545Trp)
c.1638C>G (p.Cys546Trp)
n.701C>G
c.1647C>G (p.Cys549Trp)
c.1644C>G (p.Cys548Trp)
n.2042C>G
n.2061C>G
 dbSNP gnomAD v3 gnomAD v4
4g.1805659C>TCA438063345FGFR3c.1641C>T (p.Cys547=)
c.*691C>T (n.*691C>T)
c.1299C>T (p.Cys433=)
c.1623C>T (p.Cys541=)
c.1635C>T (p.Cys545=)
c.1638C>T (p.Cys546=)
n.701C>T
c.1647C>T (p.Cys549=)
c.1644C>T (p.Cys548=)
n.2042C>T
n.2061C>T
4g.1805660A>CCA355981611FGFR3c.1642A>C (p.Thr548Pro)
c.*692A>C (n.*692A>C)
c.1300A>C (p.Thr434Pro)
c.1624A>C (p.Thr542Pro)
c.1636A>C (p.Thr546Pro)
c.1639A>C (p.Thr547Pro)
n.702A>C
c.1648A>C (p.Thr550Pro)
c.1645A>C (p.Thr549Pro)
n.2043A>C
n.2062A>C
4g.1805660A>GCA355981612FGFR3c.1642A>G (p.Thr548Ala)
c.*692A>G (n.*692A>G)
c.1300A>G (p.Thr434Ala)
c.1624A>G (p.Thr542Ala)
c.1636A>G (p.Thr546Ala)
c.1639A>G (p.Thr547Ala)
n.702A>G
c.1648A>G (p.Thr550Ala)
c.1645A>G (p.Thr549Ala)
n.2043A>G
n.2062A>G
4g.1805660A>TCA355981613FGFR3c.1642A>T (p.Thr548Ser)
c.*692A>T (n.*692A>T)
c.1300A>T (p.Thr434Ser)
c.1624A>T (p.Thr542Ser)
c.1636A>T (p.Thr546Ser)
c.1639A>T (p.Thr547Ser)
n.702A>T
c.1648A>T (p.Thr550Ser)
c.1645A>T (p.Thr549Ser)
n.2043A>T
n.2062A>T
4g.1805661C>ACA170920FGFR3c.1643C>A (p.Thr548Lys)
c.*693C>A (n.*693C>A)
c.1301C>A (p.Thr434Lys)
c.1625C>A (p.Thr542Lys)
c.1637C>A (p.Thr546Lys)
c.1640C>A (p.Thr547Lys)
n.703C>A
c.1649C>A (p.Thr550Lys)
c.1646C>A (p.Thr549Lys)
n.2044C>A
n.2063C>A
 ClinVar dbSNP
4g.1805661C=CA1433507535FGFR3c.1643C= (p.Thr548=)
c.*693C= (n.*693C=)
c.1301C= (p.Thr434=)
c.1625C= (p.Thr542=)
c.1637C= (p.Thr546=)
c.1640C= (p.Thr547=)
n.703C=
c.1649C= (p.Thr550=)
c.1646C= (p.Thr549=)
n.2044C=
n.2063C=
4g.1805661C>GCA355981614FGFR3c.1643C>G (p.Thr548Arg)
c.*693C>G (n.*693C>G)
c.1301C>G (p.Thr434Arg)
c.1625C>G (p.Thr542Arg)
c.1637C>G (p.Thr546Arg)
c.1640C>G (p.Thr547Arg)
n.703C>G
c.1649C>G (p.Thr550Arg)
c.1646C>G (p.Thr549Arg)
n.2044C>G
n.2063C>G
4g.1805661C>TCA355981615FGFR3c.1643C>T (p.Thr548Met)
c.*693C>T (n.*693C>T)
c.1301C>T (p.Thr434Met)
c.1625C>T (p.Thr542Met)
c.1637C>T (p.Thr546Met)
c.1640C>T (p.Thr547Met)
n.703C>T
c.1649C>T (p.Thr550Met)
c.1646C>T (p.Thr549Met)
n.2044C>T
n.2063C>T
 dbSNP gnomAD v3 gnomAD v4
4g.1805662G>ACA2810492FGFR3c.1644G>A (p.Thr548=)
c.*694G>A (n.*694G>A)
c.1302G>A (p.Thr434=)
c.1626G>A (p.Thr542=)
c.1638G>A (p.Thr546=)
c.1641G>A (p.Thr547=)
n.704G>A
c.1650G>A (p.Thr550=)
c.1647G>A (p.Thr549=)
n.2045G>A
n.2064G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.1805662G>CCA438063349FGFR3c.1644G>C (p.Thr548=)
c.*694G>C (n.*694G>C)
c.1302G>C (p.Thr434=)
c.1626G>C (p.Thr542=)
c.1638G>C (p.Thr546=)
c.1641G>C (p.Thr547=)
n.704G>C
c.1650G>C (p.Thr550=)
c.1647G>C (p.Thr549=)
n.2045G>C
n.2064G>C
4g.1805662G=CA1433507536FGFR3c.1644G= (p.Thr548=)
c.*694G= (n.*694G=)
c.1302G= (p.Thr434=)
c.1626G= (p.Thr542=)
c.1638G= (p.Thr546=)
c.1641G= (p.Thr547=)
n.704G=
c.1650G= (p.Thr550=)
c.1647G= (p.Thr549=)
n.2045G=
n.2064G=
4g.1805662G>TCA2810493FGFR3c.1644G>T (p.Thr548=)
c.*694G>T (n.*694G>T)
c.1302G>T (p.Thr434=)
c.1626G>T (p.Thr542=)
c.1638G>T (p.Thr546=)
c.1641G>T (p.Thr547=)
n.704G>T
c.1650G>T (p.Thr550=)
c.1647G>T (p.Thr549=)
n.2045G>T
n.2064G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1805663C>ACA355981616FGFR3c.1645C>A (p.Gln549Lys)
c.*695C>A (n.*695C>A)
c.1303C>A (p.Gln435Lys)
c.1627C>A (p.Gln543Lys)
c.1639C>A (p.Gln547Lys)
c.1642C>A (p.Gln548Lys)
n.705C>A
c.1651C>A (p.Gln551Lys)
c.1648C>A (p.Gln550Lys)
n.2046C>A
n.2065C>A
4g.1805663C>GCA355981617FGFR3c.1645C>G (p.Gln549Glu)
c.*695C>G (n.*695C>G)
c.1303C>G (p.Gln435Glu)
c.1627C>G (p.Gln543Glu)
c.1639C>G (p.Gln547Glu)
c.1642C>G (p.Gln548Glu)
n.705C>G
c.1651C>G (p.Gln551Glu)
c.1648C>G (p.Gln550Glu)
n.2046C>G
n.2065C>G
4g.1805663C>TCA355981618FGFR3c.1645C>T (p.Gln549Ter)
c.*695C>T (n.*695C>T)
c.1303C>T (p.Gln435Ter)
c.1627C>T (p.Gln543Ter)
c.1639C>T (p.Gln547Ter)
c.1642C>T (p.Gln548Ter)
n.705C>T
c.1651C>T (p.Gln551Ter)
c.1648C>T (p.Gln550Ter)
n.2046C>T
n.2065C>T
4g.1805664A>CCA355981619FGFR3c.1646A>C (p.Gln549Pro)
c.*696A>C (n.*696A>C)
c.1304A>C (p.Gln435Pro)
c.1628A>C (p.Gln543Pro)
c.1640A>C (p.Gln547Pro)
c.1643A>C (p.Gln548Pro)
n.706A>C
c.1652A>C (p.Gln551Pro)
c.1649A>C (p.Gln550Pro)
n.2047A>C
n.2066A>C
4g.1805664A>GCA355981620FGFR3c.1646A>G (p.Gln549Arg)
c.*696A>G (n.*696A>G)
c.1304A>G (p.Gln435Arg)
c.1628A>G (p.Gln543Arg)
c.1640A>G (p.Gln547Arg)
c.1643A>G (p.Gln548Arg)
n.706A>G
c.1652A>G (p.Gln551Arg)
c.1649A>G (p.Gln550Arg)
n.2047A>G
n.2066A>G
 ClinVar dbSNP gnomAD v4
4g.1805664A>TCA355981621FGFR3c.1646A>T (p.Gln549Leu)
c.*696A>T (n.*696A>T)
c.1304A>T (p.Gln435Leu)
c.1628A>T (p.Gln543Leu)
c.1640A>T (p.Gln547Leu)
c.1643A>T (p.Gln548Leu)
n.706A>T
c.1652A>T (p.Gln551Leu)
c.1649A>T (p.Gln550Leu)
n.2047A>T
n.2066A>T
4g.1805665G>ACA438063352FGFR3c.1647G>A (p.Gln549=)
c.*697G>A (n.*697G>A)
c.1305G>A (p.Gln435=)
c.1629G>A (p.Gln543=)
c.1641G>A (p.Gln547=)
c.1644G>A (p.Gln548=)
n.707G>A
c.1653G>A (p.Gln551=)
c.1650G>A (p.Gln550=)
n.2048G>A
n.2067G>A
 dbSNP gnomAD v4
4g.1805665G>CCA355981622FGFR3c.1647G>C (p.Gln549His)
c.*697G>C (n.*697G>C)
c.1305G>C (p.Gln435His)
c.1629G>C (p.Gln543His)
c.1641G>C (p.Gln547His)
c.1644G>C (p.Gln548His)
n.707G>C
c.1653G>C (p.Gln551His)
c.1650G>C (p.Gln550His)
n.2048G>C
n.2067G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1805665G=CA1433507537FGFR3c.1647G= (p.Gln549=)
c.*697G= (n.*697G=)
c.1305G= (p.Gln435=)
c.1629G= (p.Gln543=)
c.1641G= (p.Gln547=)
c.1644G= (p.Gln548=)
n.707G=
c.1653G= (p.Gln551=)
c.1650G= (p.Gln550=)
n.2048G=
n.2067G=
4g.1805665G>TCA355981623FGFR3c.1647G>T (p.Gln549His)
c.*697G>T (n.*697G>T)
c.1305G>T (p.Gln435His)
c.1629G>T (p.Gln543His)
c.1641G>T (p.Gln547His)
c.1644G>T (p.Gln548His)
n.707G>T
c.1653G>T (p.Gln551His)
c.1650G>T (p.Gln550His)
n.2048G>T
n.2067G>T
4g.1805666G>ACA91256841FGFR3c.1648G>A (p.Gly550Ser)
c.*698G>A (n.*698G>A)
c.1306G>A (p.Gly436Ser)
c.1630G>A (p.Gly544Ser)
c.1642G>A (p.Gly548Ser)
c.1645G>A (p.Gly549Ser)
n.708G>A
c.1654G>A (p.Gly552Ser)
c.1651G>A (p.Gly551Ser)
n.2049G>A
n.2068G>A
 dbSNP gnomAD v4
4g.1805666G>CCA355981624FGFR3c.1648G>C (p.Gly550Arg)
c.*698G>C (n.*698G>C)
c.1306G>C (p.Gly436Arg)
c.1630G>C (p.Gly544Arg)
c.1642G>C (p.Gly548Arg)
c.1645G>C (p.Gly549Arg)
n.708G>C
c.1654G>C (p.Gly552Arg)
c.1651G>C (p.Gly551Arg)
n.2049G>C
n.2068G>C
 dbSNP
4g.1805666G=CA1433507538FGFR3c.1648G= (p.Gly550=)
c.*698G= (n.*698G=)
c.1306G= (p.Gly436=)
c.1630G= (p.Gly544=)
c.1642G= (p.Gly548=)
c.1645G= (p.Gly549=)
n.708G=
c.1654G= (p.Gly552=)
c.1651G= (p.Gly551=)
n.2049G=
n.2068G=
4g.1805666G>TCA355981625FGFR3c.1648G>T (p.Gly550Cys)
c.*698G>T (n.*698G>T)
c.1306G>T (p.Gly436Cys)
c.1630G>T (p.Gly544Cys)
c.1642G>T (p.Gly548Cys)
c.1645G>T (p.Gly549Cys)
n.708G>T
c.1654G>T (p.Gly552Cys)
c.1651G>T (p.Gly551Cys)
n.2049G>T
n.2068G>T
4g.1805666_1805675delinsGGCGGTAGGTCA1433507539FGFR3c.1648_1651+6delinsGGCGGTAGGT
c.*698_*701+6delinsGGCGGTAGGT
c.1306_1309+6delinsGGCGGTAGGT
c.1630_1633+6delinsGGCGGTAGGT
c.1642_1645+6delinsGGCGGTAGGT
c.1645_1648+6delinsGGCGGTAGGT
n.708_711+6delinsGGCGGTAGGT
c.1654_1657+6delinsGGCGGTAGGT
c.1651_1654+6delinsGGCGGTAGGT
n.2049_2052+6delinsGGCGGTAGGT
n.2068_2071+6delinsGGCGGTAGGT

Number of alleles fetched