Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.1801518C>A | CA355975317 | FGFR3 | c.597C>A (p.His199Gln) c.585C>A (p.His195Gln) c.57C>A (p.His19Gln) n.853C>A n.872C>A | |
4 | g.1801518C= | CA1433504855 | FGFR3 | c.597C= (p.His199=) c.585C= (p.His195=) c.57C= (p.His19=) n.853C= n.872C= | |
4 | g.1801518C>G | CA355975318 | FGFR3 | c.597C>G (p.His199Gln) c.585C>G (p.His195Gln) c.57C>G (p.His19Gln) n.853C>G n.872C>G | dbSNP |
4 | g.1801518C>T | CA345216 | FGFR3 | c.597C>T (p.His199=) c.585C>T (p.His195=) c.57C>T (p.His19=) n.853C>T n.872C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801519C>A | CA355975320 | FGFR3 | c.598C>A (p.Arg200Ser) c.586C>A (p.Arg196Ser) c.58C>A (p.Arg20Ser) n.854C>A n.873C>A | gnomAD v4 |
4 | g.1801519C= | CA1433504856 | FGFR3 | c.598C= (p.Arg200=) c.586C= (p.Arg196=) c.58C= (p.Arg20=) n.854C= n.873C= | |
4 | g.1801519C>G | CA355975321 | FGFR3 | c.598C>G (p.Arg200Gly) c.586C>G (p.Arg196Gly) c.58C>G (p.Arg20Gly) n.854C>G n.873C>G | |
4 | g.1801519C>T | CA10605728 | FGFR3 | c.598C>T (p.Arg200Cys) c.586C>T (p.Arg196Cys) c.58C>T (p.Arg20Cys) n.854C>T n.873C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
4 | g.1801520del | CA2669560531 | FGFR3 | c.599del (p.Arg200ProfsTer?) c.587del (p.Arg196ProfsTer?) c.59del (p.Arg20ProfsTer?) n.855del n.874del | gnomAD v4 |
4 | g.1801520G>A | CA355975323 | FGFR3 | c.599G>A (p.Arg200His) c.587G>A (p.Arg196His) c.59G>A (p.Arg20His) n.855G>A n.874G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
4 | g.1801520G>C | CA355975324 | FGFR3 | c.599G>C (p.Arg200Pro) c.587G>C (p.Arg196Pro) c.59G>C (p.Arg20Pro) n.855G>C n.874G>C | |
4 | g.1801520G= | CA1433504857 | FGFR3 | c.599G= (p.Arg200=) c.587G= (p.Arg196=) c.59G= (p.Arg20=) n.855G= n.874G= | |
4 | g.1801520G>T | CA159697 | FGFR3 | c.599G>T (p.Arg200Leu) c.587G>T (p.Arg196Leu) c.59G>T (p.Arg20Leu) n.855G>T n.874G>T | ClinVar dbSNP gnomAD v4 |
4 | g.1801521C>A | CA438062827 | FGFR3 | c.600C>A (p.Arg200=) c.588C>A (p.Arg196=) c.60C>A (p.Arg20=) n.856C>A n.875C>A | gnomAD v4 |
4 | g.1801521C>G | CA438062828 | FGFR3 | c.600C>G (p.Arg200=) c.588C>G (p.Arg196=) c.60C>G (p.Arg20=) n.856C>G n.875C>G | |
4 | g.1801521C>T | CA438062829 | FGFR3 | c.600C>T (p.Arg200=) c.588C>T (p.Arg196=) c.60C>T (p.Arg20=) n.856C>T n.875C>T | |
4 | g.1801522A>C | CA355975326 | FGFR3 | c.601A>C (p.Ile201Leu) c.589A>C (p.Ile197Leu) c.61A>C (p.Ile21Leu) n.857A>C n.876A>C | |
4 | g.1801522A>G | CA355975329 | FGFR3 | c.601A>G (p.Ile201Val) c.589A>G (p.Ile197Val) c.61A>G (p.Ile21Val) n.857A>G n.876A>G | gnomAD v4 |
4 | g.1801522A>T | CA355975328 | FGFR3 | c.601A>T (p.Ile201Phe) c.589A>T (p.Ile197Phe) c.61A>T (p.Ile21Phe) n.857A>T n.876A>T | |
4 | g.1801523T>A | CA355975331 | FGFR3 | c.602T>A (p.Ile201Asn) c.590T>A (p.Ile197Asn) c.62T>A (p.Ile21Asn) n.858T>A n.877T>A | gnomAD v4 |
4 | g.1801523T>C | CA355975333 | FGFR3 | c.602T>C (p.Ile201Thr) c.590T>C (p.Ile197Thr) c.62T>C (p.Ile21Thr) n.858T>C n.877T>C | |
4 | g.1801523T>G | CA355975334 | FGFR3 | c.602T>G (p.Ile201Ser) c.590T>G (p.Ile197Ser) c.62T>G (p.Ile21Ser) n.858T>G n.877T>G | |
4 | g.1801524T>A | CA438062830 | FGFR3 | c.603T>A (p.Ile201=) c.591T>A (p.Ile197=) c.63T>A (p.Ile21=) n.859T>A n.878T>A | |
4 | g.1801524T>C | CA202980 | FGFR3 | c.603T>C (p.Ile201=) c.591T>C (p.Ile197=) c.63T>C (p.Ile21=) n.859T>C n.878T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.1801524T>G | CA355975336 | FGFR3 | c.603T>G (p.Ile201Met) c.591T>G (p.Ile197Met) c.63T>G (p.Ile21Met) n.859T>G n.878T>G | |
4 | g.1801524T= | CA1433504858 | FGFR3 | c.603T= (p.Ile201=) c.591T= (p.Ile197=) c.63T= (p.Ile21=) n.859T= n.878T= | |
4 | g.1801525G>A | CA355975340 | FGFR3 | c.604G>A (p.Gly202Arg) c.592G>A (p.Gly198Arg) c.64G>A (p.Gly22Arg) n.860G>A n.879G>A | dbSNP gnomAD v2 |
4 | g.1801525G>C | CA355975338 | FGFR3 | c.604G>C (p.Gly202Arg) c.592G>C (p.Gly198Arg) c.64G>C (p.Gly22Arg) n.860G>C n.879G>C | |
4 | g.1801525G= | CA1433504859 | FGFR3 | c.604G= (p.Gly202=) c.592G= (p.Gly198=) c.64G= (p.Gly22=) n.860G= n.879G= | |
4 | g.1801525G>T | CA355975337 | FGFR3 | c.604G>T (p.Gly202Ter) c.592G>T (p.Gly198Ter) c.64G>T (p.Gly22Ter) n.860G>T n.879G>T | gnomAD v4 |
4 | g.1801526G>A | CA355975342 | FGFR3 | c.605G>A (p.Gly202Glu) c.593G>A (p.Gly198Glu) c.65G>A (p.Gly22Glu) n.861G>A n.880G>A | |
4 | g.1801526G>C | CA355975343 | FGFR3 | c.605G>C (p.Gly202Ala) c.593G>C (p.Gly198Ala) c.65G>C (p.Gly22Ala) n.861G>C n.880G>C | |
4 | g.1801526G>T | CA355975345 | FGFR3 | c.605G>T (p.Gly202Val) c.593G>T (p.Gly198Val) c.65G>T (p.Gly22Val) n.861G>T n.880G>T | gnomAD v4 |
4 | g.1801527A>C | CA438062831 | FGFR3 | c.606A>C (p.Gly202=) c.594A>C (p.Gly198=) c.66A>C (p.Gly22=) n.862A>C n.881A>C | gnomAD v4 |
4 | g.1801527A>G | CA438062833 | FGFR3 | c.606A>G (p.Gly202=) c.594A>G (p.Gly198=) c.66A>G (p.Gly22=) n.862A>G n.881A>G | dbSNP gnomAD v4 |
4 | g.1801527A>T | CA438062832 | FGFR3 | c.606A>T (p.Gly202=) c.594A>T (p.Gly198=) c.66A>T (p.Gly22=) n.862A>T n.881A>T | gnomAD v4 |
4 | g.1801528G>A | CA355975348 | FGFR3 | c.607G>A (p.Gly203Ser) c.595G>A (p.Gly199Ser) c.67G>A (p.Gly23Ser) n.863G>A n.882G>A | dbSNP gnomAD v2 |
4 | g.1801528G>C | CA355975349 | FGFR3 | c.607G>C (p.Gly203Arg) c.595G>C (p.Gly199Arg) c.67G>C (p.Gly23Arg) n.863G>C n.882G>C | |
4 | g.1801528G= | CA1433504860 | FGFR3 | c.607G= (p.Gly203=) c.595G= (p.Gly199=) c.67G= (p.Gly23=) n.863G= n.882G= | |
4 | g.1801528G>T | CA355975351 | FGFR3 | c.607G>T (p.Gly203Cys) c.595G>T (p.Gly199Cys) c.67G>T (p.Gly23Cys) n.863G>T n.882G>T | gnomAD v4 |
4 | g.1801529G>A | CA355975353 | FGFR3 | c.608G>A (p.Gly203Asp) c.596G>A (p.Gly199Asp) c.68G>A (p.Gly23Asp) n.864G>A n.883G>A | gnomAD v4 |
4 | g.1801529G>C | CA355975356 | FGFR3 | c.608G>C (p.Gly203Ala) c.596G>C (p.Gly199Ala) c.68G>C (p.Gly23Ala) n.864G>C n.883G>C | |
4 | g.1801529G>T | CA355975355 | FGFR3 | c.608G>T (p.Gly203Val) c.596G>T (p.Gly199Val) c.68G>T (p.Gly23Val) n.864G>T n.883G>T | gnomAD v4 |
4 | g.1801530C>A | CA438062834 | FGFR3 | c.609C>A (p.Gly203=) c.597C>A (p.Gly199=) c.69C>A (p.Gly23=) n.865C>A n.884C>A | gnomAD v4 |
4 | g.1801530C>G | CA438062835 | FGFR3 | c.609C>G (p.Gly203=) c.597C>G (p.Gly199=) c.69C>G (p.Gly23=) n.865C>G n.884C>G | |
4 | g.1801530C>T | CA438062836 | FGFR3 | c.609C>T (p.Gly203=) c.597C>T (p.Gly199=) c.69C>T (p.Gly23=) n.865C>T n.884C>T | |
4 | g.1801531A>C | CA355975358 | FGFR3 | c.610A>C (p.Ile204Leu) c.598A>C (p.Ile200Leu) c.70A>C (p.Ile24Leu) n.866A>C n.885A>C | |
4 | g.1801531A>G | CA355975360 | FGFR3 | c.610A>G (p.Ile204Val) c.598A>G (p.Ile200Val) c.70A>G (p.Ile24Val) n.866A>G n.885A>G | |
4 | g.1801531A>T | CA355975362 | FGFR3 | c.610A>T (p.Ile204Phe) c.598A>T (p.Ile200Phe) c.70A>T (p.Ile24Phe) n.866A>T n.885A>T | gnomAD v4 |
4 | g.1801532T>A | CA355975364 | FGFR3 | c.611T>A (p.Ile204Asn) c.599T>A (p.Ile200Asn) c.71T>A (p.Ile24Asn) n.867T>A n.886T>A | dbSNP |