1 |
FGFR3 |
NM_001163213.1(FGFR3):c.742C>T (p.Arg248Cys) |
SNV |
Pathogenic |
16332 |
rs121913482 |
4:1803564-1803564 |
4:1801837-1801837 |
2 |
FGFR3 |
NM_001163213.1(FGFR3):c.1626C>G (p.Asn542Lys) |
SNV |
Pathogenic |
16338 |
rs28933068 |
4:1807371-1807371 |
4:1805644-1805644 |
3 |
FGFR3 |
NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) |
SNV |
Pathogenic |
16339 |
rs121913483 |
4:1803568-1803568 |
4:1801841-1801841 |
4 |
FGFR3 |
NM_001163213.1(FGFR3):c.1868G>A (p.Arg623His) |
SNV |
Pathogenic |
16355 |
rs121913113 |
4:1807803-1807803 |
4:1806076-1806076 |
5 |
FGFR3 |
NM_001163213.1(FGFR3):c.251C>T (p.Ser84Leu) |
SNV |
Pathogenic |
16358 |
rs121913116 |
4:1801122-1801122 |
4:1799395-1799395 |
6 |
FGFR3 |
NM_001163213.1(FGFR3):c.1955A>C (p.Lys652Thr) |
SNV |
Pathogenic |
65855 |
rs121913105 |
4:1807890-1807890 |
4:1806163-1806163 |
7 |
FGFR3 |
NM_001163213.1(FGFR3):c.1643C>A (p.Thr548Lys) |
SNV |
Pathogenic |
156545 |
rs587777857 |
4:1807388-1807388 |
4:1805661-1805661 |
8 |
FGFR3 |
NM_001163213.1(FGFR3):c.749C>G (p.Pro250Arg) |
SNV |
Pathogenic/Likely pathogenic |
16340 |
rs4647924 |
4:1803571-1803571 |
4:1801844-1801844 |
9 |
FGFR3 |
NM_001163213.1(FGFR3):c.2293C>T (p.Leu765=) |
SNV |
Likely pathogenic |
627445 |
rs774517056 |
4:1808855-1808855 |
4:1807128-1807128 |
10 |
FGFR3 |
NM_001163213.1(FGFR3):c.1144G>A (p.Gly382Arg) |
SNV |
Conflicting interpretations of pathogenicity |
16327 |
rs28931614 |
4:1806119-1806119 |
4:1804392-1804392 |
11 |
FGFR3 |
NM_001163213.1(FGFR3):c.1999G>T (p.Ala667Ser) |
SNV |
Uncertain significance |
465350 |
rs764892330 |
4:1808017-1808017 |
4:1806290-1806290 |
12 |
FGFR3 |
NM_001163213.1(FGFR3):c.2159A>G (p.Asn720Ser) |
SNV |
Uncertain significance |
521225 |
rs139773438 |
4:1808395-1808395 |
4:1806668-1806668 |
13 |
FGFR3 |
NM_001163213.1(FGFR3):c.200G>A (p.Gly67Asp) |
SNV |
Uncertain significance |
546226 |
rs369232922 |
4:1801071-1801071 |
4:1799344-1799344 |
14 |
FGFR3 |
NM_001163213.1(FGFR3):c.1337C>T (p.Ser446Phe) |
SNV |
not provided |
585087 |
rs761325047 |
4:1806615-1806615 |
4:1804888-1804888 |