UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1801691C>A | CA438063215 | FGFR3 | c.687C>A (p.Val229=) c.675C>A (p.Val225=) n.63C>A c.147C>A (p.Val49=) n.943C>A n.962C>A | gnomAD v4 |
| 4 | g.1801691C= | CA1433504951 | FGFR3 | c.687C= (p.Val229=) c.675C= (p.Val225=) n.63C= c.147C= (p.Val49=) n.943C= n.962C= | |
| 4 | g.1801691C>G | CA438063216 | FGFR3 | c.687C>G (p.Val229=) c.675C>G (p.Val225=) n.63C>G c.147C>G (p.Val49=) n.943C>G n.962C>G | |
| 4 | g.1801691C>T | CA91249535 | FGFR3 | c.687C>T (p.Val229=) c.675C>T (p.Val225=) n.63C>T c.147C>T (p.Val49=) n.943C>T n.962C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1801692G>A | CA355975588 | FGFR3 | c.688G>A (p.Val230Met) c.676G>A (p.Val226Met) n.64G>A c.148G>A (p.Val50Met) n.944G>A n.963G>A | dbSNP gnomAD v4 |
| 4 | g.1801692G>C | CA355975589 | FGFR3 | c.688G>C (p.Val230Leu) c.676G>C (p.Val226Leu) n.64G>C c.148G>C (p.Val50Leu) n.944G>C n.963G>C | |
| 4 | g.1801692G= | CA1433504952 | FGFR3 | c.688G= (p.Val230=) c.676G= (p.Val226=) n.64G= c.148G= (p.Val50=) n.944G= n.963G= | |
| 4 | g.1801692G>T | CA355975590 | FGFR3 | c.688G>T (p.Val230Leu) c.676G>T (p.Val226Leu) n.64G>T c.148G>T (p.Val50Leu) n.944G>T n.963G>T | dbSNP |
| 4 | g.1801693T>A | CA355975591 | FGFR3 | c.689T>A (p.Val230Glu) c.677T>A (p.Val226Glu) n.65T>A c.149T>A (p.Val50Glu) n.945T>A n.964T>A | dbSNP |
| 4 | g.1801693T>C | CA91249537 | FGFR3 | c.689T>C (p.Val230Ala) c.677T>C (p.Val226Ala) n.65T>C c.149T>C (p.Val50Ala) n.945T>C n.964T>C | dbSNP gnomAD v4 |
| 4 | g.1801693T>G | CA355975592 | FGFR3 | c.689T>G (p.Val230Gly) c.677T>G (p.Val226Gly) n.65T>G c.149T>G (p.Val50Gly) n.945T>G n.964T>G | |
| 4 | g.1801693T= | CA1433504953 | FGFR3 | c.689T= (p.Val230=) c.677T= (p.Val226=) n.65T= c.149T= (p.Val50=) n.945T= n.964T= | |
| 4 | g.1801694G>A | CA2809924 | FGFR3 | c.690G>A (p.Val230=) c.678G>A (p.Val226=) n.66G>A c.150G>A (p.Val50=) n.946G>A n.965G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1801694G>C | CA438063225 | FGFR3 | c.690G>C (p.Val230=) c.678G>C (p.Val226=) n.66G>C c.150G>C (p.Val50=) n.946G>C n.965G>C | |
| 4 | g.1801694G= | CA1433504954 | FGFR3 | c.690G= (p.Val230=) c.678G= (p.Val226=) n.66G= c.150G= (p.Val50=) n.946G= n.965G= | |
| 4 | g.1801694G>T | CA438063226 | FGFR3 | c.690G>T (p.Val230=) c.678G>T (p.Val226=) n.66G>T c.150G>T (p.Val50=) n.946G>T n.965G>T | |
| 4 | g.1801695G>A | CA355975595 | FGFR3 | c.691G>A (p.Glu231Lys) c.679G>A (p.Glu227Lys) n.67G>A c.151G>A (p.Glu51Lys) n.947G>A n.966G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1801695G>C | CA355975594 | FGFR3 | c.691G>C (p.Glu231Gln) c.679G>C (p.Glu227Gln) n.67G>C c.151G>C (p.Glu51Gln) n.947G>C n.966G>C | dbSNP |
| 4 | g.1801695G= | CA1433504955 | FGFR3 | c.691G= (p.Glu231=) c.679G= (p.Glu227=) n.67G= c.151G= (p.Glu51=) n.947G= n.966G= | |
| 4 | g.1801695G>T | CA355975593 | FGFR3 | c.691G>T (p.Glu231Ter) c.679G>T (p.Glu227Ter) n.67G>T c.151G>T (p.Glu51Ter) n.947G>T n.966G>T | |
| 4 | g.1801696A>C | CA355975596 | FGFR3 | c.692A>C (p.Glu231Ala) c.680A>C (p.Glu227Ala) n.68A>C c.152A>C (p.Glu51Ala) n.948A>C n.967A>C | |
| 4 | g.1801696A>G | CA355975597 | FGFR3 | c.692A>G (p.Glu231Gly) c.680A>G (p.Glu227Gly) n.68A>G c.152A>G (p.Glu51Gly) n.948A>G n.967A>G | ClinVar |
| 4 | g.1801696A>T | CA355975598 | FGFR3 | c.692A>T (p.Glu231Val) c.680A>T (p.Glu227Val) n.68A>T c.152A>T (p.Glu51Val) n.948A>T n.967A>T | |
| 4 | g.1801697G>A | CA438063233 | FGFR3 | c.693G>A (p.Glu231=) c.681G>A (p.Glu227=) n.69G>A c.153G>A (p.Glu51=) n.949G>A n.968G>A | dbSNP |
| 4 | g.1801697G>C | CA355975599 | FGFR3 | c.693G>C (p.Glu231Asp) c.681G>C (p.Glu227Asp) n.69G>C c.153G>C (p.Glu51Asp) n.949G>C n.968G>C | gnomAD v4 |
| 4 | g.1801697G>T | CA355975600 | FGFR3 | c.693G>T (p.Glu231Asp) c.681G>T (p.Glu227Asp) n.69G>T c.153G>T (p.Glu51Asp) n.949G>T n.968G>T | gnomAD v4 |
| 4 | g.1801698A>C | CA355975601 | FGFR3 | c.694A>C (p.Asn232His) c.682A>C (p.Asn228His) n.70A>C c.154A>C (p.Asn52His) n.950A>C n.969A>C | |
| 4 | g.1801698A>G | CA355975602 | FGFR3 | c.694A>G (p.Asn232Asp) c.682A>G (p.Asn228Asp) n.70A>G c.154A>G (p.Asn52Asp) n.950A>G n.969A>G | |
| 4 | g.1801698A>T | CA355975603 | FGFR3 | c.694A>T (p.Asn232Tyr) c.682A>T (p.Asn228Tyr) n.70A>T c.154A>T (p.Asn52Tyr) n.950A>T n.969A>T | |
| 4 | g.1801699A>C | CA355975604 | FGFR3 | c.695A>C (p.Asn232Thr) c.683A>C (p.Asn228Thr) n.71A>C c.155A>C (p.Asn52Thr) n.951A>C n.970A>C | |
| 4 | g.1801699A>G | CA355975605 | FGFR3 | c.695A>G (p.Asn232Ser) c.683A>G (p.Asn228Ser) n.71A>G c.155A>G (p.Asn52Ser) n.951A>G n.970A>G | |
| 4 | g.1801699A>T | CA355975606 | FGFR3 | c.695A>T (p.Asn232Ile) c.683A>T (p.Asn228Ile) n.71A>T c.155A>T (p.Asn52Ile) n.951A>T n.970A>T | |
| 4 | g.1801700C>A | CA355975607 | FGFR3 | c.696C>A (p.Asn232Lys) c.684C>A (p.Asn228Lys) n.72C>A c.156C>A (p.Asn52Lys) n.952C>A n.971C>A | gnomAD v4 |
| 4 | g.1801700C>G | CA355975608 | FGFR3 | c.696C>G (p.Asn232Lys) c.684C>G (p.Asn228Lys) n.72C>G c.156C>G (p.Asn52Lys) n.952C>G n.971C>G | |
| 4 | g.1801700C>T | CA438063239 | FGFR3 | c.696C>T (p.Asn232=) c.684C>T (p.Asn228=) n.72C>T c.156C>T (p.Asn52=) n.952C>T n.971C>T | |
| 4 | g.1801701A>C | CA355975611 | FGFR3 | c.697A>C (p.Lys233Gln) c.685A>C (p.Lys229Gln) n.73A>C c.157A>C (p.Lys53Gln) n.953A>C n.972A>C | |
| 4 | g.1801701A>G | CA355975610 | FGFR3 | c.697A>G (p.Lys233Glu) c.685A>G (p.Lys229Glu) n.73A>G c.157A>G (p.Lys53Glu) n.953A>G n.972A>G | gnomAD v3 gnomAD v4 |
| 4 | g.1801701A>T | CA355975609 | FGFR3 | c.697A>T (p.Lys233Ter) c.685A>T (p.Lys229Ter) n.73A>T c.157A>T (p.Lys53Ter) n.953A>T n.972A>T | |
| 4 | g.1801702A>C | CA355975615 | FGFR3 | c.698A>C (p.Lys233Thr) c.686A>C (p.Lys229Thr) n.74A>C c.158A>C (p.Lys53Thr) n.954A>C n.973A>C | |
| 4 | g.1801702A>G | CA355975613 | FGFR3 | c.698A>G (p.Lys233Arg) c.686A>G (p.Lys229Arg) n.74A>G c.158A>G (p.Lys53Arg) n.954A>G n.973A>G | |
| 4 | g.1801702A>T | CA355975617 | FGFR3 | c.698A>T (p.Lys233Met) c.686A>T (p.Lys229Met) n.74A>T c.158A>T (p.Lys53Met) n.954A>T n.973A>T | |
| 4 | g.1801702_1801703insAAACCAAACACACCCAACACA | CA2760148385 | FGFR3 | c.698_699insAAACCAAACACACCCAACACA (p.Lys233_Phe234insAsnGlnThrHisProThrGln) c.686_687insAAACCAAACACACCCAACACA (p.Lys229_Phe230insAsnGlnThrHisProThrGln) n.74_75insAAACCAAACACACCCAACACA c.158_159insAAACCAAACACACCCAACACA (p.Lys53_Phe54insAsnGlnThrHisProThrGln) n.954_955insAAACCAAACACACCCAACACA n.973_974insAAACCAAACACACCCAACACA | |
| 4 | g.1801703G>A | CA438063246 | FGFR3 | c.699G>A (p.Lys233=) c.687G>A (p.Lys229=) n.75G>A c.159G>A (p.Lys53=) n.955G>A n.974G>A | |
| 4 | g.1801703G>C | CA355975618 | FGFR3 | c.699G>C (p.Lys233Asn) c.687G>C (p.Lys229Asn) n.75G>C c.159G>C (p.Lys53Asn) n.955G>C n.974G>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1801703G= | CA1433504956 | FGFR3 | c.699G= (p.Lys233=) c.687G= (p.Lys229=) n.75G= c.159G= (p.Lys53=) n.955G= n.974G= | |
| 4 | g.1801703G>T | CA355975619 | FGFR3 | c.699G>T (p.Lys233Asn) c.687G>T (p.Lys229Asn) n.75G>T c.159G>T (p.Lys53Asn) n.955G>T n.974G>T | |
| 4 | g.1801704T>A | CA355975621 | FGFR3 | c.700T>A (p.Phe234Ile) c.688T>A (p.Phe230Ile) n.76T>A c.160T>A (p.Phe54Ile) n.956T>A n.975T>A | dbSNP |
| 4 | g.1801704T>C | CA2809925 | FGFR3 | c.700T>C (p.Phe234Leu) c.688T>C (p.Phe230Leu) n.76T>C c.160T>C (p.Phe54Leu) n.956T>C n.975T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1801704T>G | CA355975623 | FGFR3 | c.700T>G (p.Phe234Val) c.688T>G (p.Phe230Val) n.76T>G c.160T>G (p.Phe54Val) n.956T>G n.975T>G | dbSNP |
| 4 | g.1801704T= | CA1433504957 | FGFR3 | c.700T= (p.Phe234=) c.688T= (p.Phe230=) n.76T= c.160T= (p.Phe54=) n.956T= n.975T= |