Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.1801420C>A | CA355974943 | FGFR3 | c.499C>A (p.Pro167Thr) c.487C>A (p.Pro163Thr) n.755C>A n.774C>A | |
4 | g.1801420C>G | CA355974944 | FGFR3 | c.499C>G (p.Pro167Ala) c.487C>G (p.Pro163Ala) n.755C>G n.774C>G | |
4 | g.1801420C>T | CA355974946 | FGFR3 | c.499C>T (p.Pro167Ser) c.487C>T (p.Pro163Ser) n.755C>T n.774C>T | dbSNP gnomAD v4 |
4 | g.1801421C>A | CA355974948 | FGFR3 | c.500C>A (p.Pro167Gln) c.488C>A (p.Pro163Gln) n.756C>A n.775C>A | gnomAD v4 |
4 | g.1801421C>G | CA355974949 | FGFR3 | c.500C>G (p.Pro167Arg) c.488C>G (p.Pro163Arg) n.756C>G n.775C>G | |
4 | g.1801421C>T | CA355974951 | FGFR3 | c.500C>T (p.Pro167Leu) c.488C>T (p.Pro163Leu) n.756C>T n.775C>T | gnomAD v4 |
4 | g.1801422G>A | CA91249100 | FGFR3 | c.501G>A (p.Pro167=) c.489G>A (p.Pro163=) n.757G>A n.776G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801422G>C | CA438062765 | FGFR3 | c.501G>C (p.Pro167=) c.489G>C (p.Pro163=) n.757G>C n.776G>C | |
4 | g.1801422G= | CA1433504809 | FGFR3 | c.501G= (p.Pro167=) c.489G= (p.Pro163=) n.757G= n.776G= | |
4 | g.1801422G>T | CA438062764 | FGFR3 | c.501G>T (p.Pro167=) c.489G>T (p.Pro163=) n.757G>T n.776G>T | |
4 | g.1801423G>A | CA355974954 | FGFR3 | c.502G>A (p.Ala168Thr) c.490G>A (p.Ala164Thr) n.758G>A n.777G>A | dbSNP gnomAD v4 |
4 | g.1801423G>C | CA355974956 | FGFR3 | c.502G>C (p.Ala168Pro) c.490G>C (p.Ala164Pro) n.758G>C n.777G>C | dbSNP |
4 | g.1801423G>T | CA355974958 | FGFR3 | c.502G>T (p.Ala168Ser) c.490G>T (p.Ala164Ser) n.758G>T n.777G>T | |
4 | g.1801424C>A | CA355974960 | FGFR3 | c.503C>A (p.Ala168Asp) c.491C>A (p.Ala164Asp) n.759C>A n.778C>A | gnomAD v4 |
4 | g.1801424C>G | CA355974963 | FGFR3 | c.503C>G (p.Ala168Gly) c.491C>G (p.Ala164Gly) n.759C>G n.778C>G | |
4 | g.1801424C>T | CA355974962 | FGFR3 | c.503C>T (p.Ala168Val) c.491C>T (p.Ala164Val) n.759C>T n.778C>T | dbSNP gnomAD v4 |
4 | g.1801428_1801440dup | CA2669560527 | FGFR3 | c.507_519dup (p.Phe174GlnfsTer?) c.495_507dup (p.Phe170GlnfsTer?) n.763_775dup n.782_794dup | gnomAD v4 |
4 | g.1801425C>A | CA438062767 | FGFR3 | c.504C>A (p.Ala168=) c.492C>A (p.Ala164=) n.760C>A n.779C>A | dbSNP gnomAD v4 |
4 | g.1801425C= | CA1433504810 | FGFR3 | c.504C= (p.Ala168=) c.492C= (p.Ala164=) n.760C= n.779C= | |
4 | g.1801425C>G | CA438062766 | FGFR3 | c.504C>G (p.Ala168=) c.492C>G (p.Ala164=) n.760C>G n.779C>G | |
4 | g.1801425C>T | CA2809860 | FGFR3 | c.504C>T (p.Ala168=) c.492C>T (p.Ala164=) n.760C>T n.779C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801426G>A | CA355974965 | FGFR3 | c.505G>A (p.Ala169Thr) c.493G>A (p.Ala165Thr) n.761G>A n.780G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801426G>C | CA355974964 | FGFR3 | c.505G>C (p.Ala169Pro) c.493G>C (p.Ala165Pro) n.761G>C n.780G>C | gnomAD v4 |
4 | g.1801426G= | CA1433504811 | FGFR3 | c.505G= (p.Ala169=) c.493G= (p.Ala165=) n.761G= n.780G= | |
4 | g.1801426G>T | CA355974967 | FGFR3 | c.505G>T (p.Ala169Ser) c.493G>T (p.Ala165Ser) n.761G>T n.780G>T | gnomAD v4 |
4 | g.1801427C>A | CA355974968 | FGFR3 | c.506C>A (p.Ala169Asp) c.494C>A (p.Ala165Asp) n.762C>A n.781C>A | |
4 | g.1801427C>G | CA355974971 | FGFR3 | c.506C>G (p.Ala169Gly) c.494C>G (p.Ala165Gly) n.762C>G n.781C>G | |
4 | g.1801427C>T | CA355974969 | FGFR3 | c.506C>T (p.Ala169Val) c.494C>T (p.Ala165Val) n.762C>T n.781C>T | gnomAD v4 |
4 | g.1801428C>A | CA438062769 | FGFR3 | c.507C>A (p.Ala169=) c.495C>A (p.Ala165=) n.763C>A n.782C>A | gnomAD v4 |
4 | g.1801428C= | CA1433504812 | FGFR3 | c.507C= (p.Ala169=) c.495C= (p.Ala165=) n.763C= n.782C= | |
4 | g.1801428C>G | CA438062770 | FGFR3 | c.507C>G (p.Ala169=) c.495C>G (p.Ala165=) n.763C>G n.782C>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801428C>T | CA438062768 | FGFR3 | c.507C>T (p.Ala169=) c.495C>T (p.Ala165=) n.763C>T n.782C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801429A= | CA1433504813 | FGFR3 | c.508A= (p.Asn170=) c.496A= (p.Asn166=) n.764A= n.783A= | |
4 | g.1801429A>C | CA355974972 | FGFR3 | c.508A>C (p.Asn170His) c.496A>C (p.Asn166His) n.764A>C n.783A>C | |
4 | g.1801429A>G | CA355974975 | FGFR3 | c.508A>G (p.Asn170Asp) c.496A>G (p.Asn166Asp) n.764A>G n.783A>G | |
4 | g.1801429A>T | CA355974974 | FGFR3 | c.508A>T (p.Asn170Tyr) c.496A>T (p.Asn166Tyr) n.764A>T n.783A>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.1801430A>C | CA355974978 | FGFR3 | c.509A>C (p.Asn170Thr) c.497A>C (p.Asn166Thr) n.765A>C n.784A>C | |
4 | g.1801430A>G | CA355974981 | FGFR3 | c.509A>G (p.Asn170Ser) c.497A>G (p.Asn166Ser) n.765A>G n.784A>G | |
4 | g.1801430A>T | CA355974980 | FGFR3 | c.509A>T (p.Asn170Ile) c.497A>T (p.Asn166Ile) n.765A>T n.784A>T | |
4 | g.1801431C>A | CA355974983 | FGFR3 | c.510C>A (p.Asn170Lys) c.498C>A (p.Asn166Lys) n.766C>A n.785C>A | |
4 | g.1801431C>G | CA355974985 | FGFR3 | c.510C>G (p.Asn170Lys) c.498C>G (p.Asn166Lys) n.766C>G n.785C>G | |
4 | g.1801431C>T | CA438062771 | FGFR3 | c.510C>T (p.Asn170=) c.498C>T (p.Asn166=) n.766C>T n.785C>T | |
4 | g.1801432A= | CA1433504814 | FGFR3 | c.511A= (p.Thr171=) c.499A= (p.Thr167=) n.767A= n.786A= | |
4 | g.1801432A>C | CA91249133 | FGFR3 | c.511A>C (p.Thr171Pro) c.499A>C (p.Thr167Pro) n.767A>C n.786A>C | dbSNP gnomAD v4 |
4 | g.1801432A>G | CA355974988 | FGFR3 | c.511A>G (p.Thr171Ala) c.499A>G (p.Thr167Ala) n.767A>G n.786A>G | |
4 | g.1801432A>T | CA355974989 | FGFR3 | c.511A>T (p.Thr171Ser) c.499A>T (p.Thr167Ser) n.767A>T n.786A>T | |
4 | g.1801433C>A | CA355974991 | FGFR3 | c.512C>A (p.Thr171Asn) c.500C>A (p.Thr167Asn) n.768C>A n.787C>A | gnomAD v4 |
4 | g.1801433C>G | CA355974992 | FGFR3 | c.512C>G (p.Thr171Ser) c.500C>G (p.Thr167Ser) n.768C>G n.787C>G | |
4 | g.1801433C>T | CA355974993 | FGFR3 | c.512C>T (p.Thr171Ile) c.500C>T (p.Thr167Ile) n.768C>T n.787C>T | |
4 | g.1801434C>A | CA438062772 | FGFR3 | c.513C>A (p.Thr171=) c.501C>A (p.Thr167=) n.769C>A n.788C>A | gnomAD v4 |
4 | g.1801434C= | CA1433504815 | FGFR3 | c.513C= (p.Thr171=) c.501C= (p.Thr167=) n.769C= n.788C= | |
4 | g.1801434C>G | CA438062773 | FGFR3 | c.513C>G (p.Thr171=) c.501C>G (p.Thr167=) n.769C>G n.788C>G | |
4 | g.1801434C>T | CA2809861 | FGFR3 | c.513C>T (p.Thr171=) c.501C>T (p.Thr167=) n.769C>T n.788C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801435G>A | CA2809862 | FGFR3 | c.514G>A (p.Val172Ile) c.502G>A (p.Val168Ile) n.770G>A n.789G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801435G>C | CA355974997 | FGFR3 | c.514G>C (p.Val172Leu) c.502G>C (p.Val168Leu) n.770G>C n.789G>C | |
4 | g.1801435G= | CA1433504816 | FGFR3 | c.514G= (p.Val172=) c.502G= (p.Val168=) n.770G= n.789G= | |
4 | g.1801435G>T | CA355974999 | FGFR3 | c.514G>T (p.Val172Phe) c.502G>T (p.Val168Phe) n.770G>T n.789G>T | gnomAD v4 |
4 | g.1801436T>A | CA355975001 | FGFR3 | c.515T>A (p.Val172Asp) c.503T>A (p.Val168Asp) n.771T>A n.790T>A | |
4 | g.1801436T>C | CA355975004 | FGFR3 | c.515T>C (p.Val172Ala) c.503T>C (p.Val168Ala) n.771T>C n.790T>C | gnomAD v4 |
4 | g.1801436T>G | CA355975003 | FGFR3 | c.515T>G (p.Val172Gly) c.503T>G (p.Val168Gly) n.771T>G n.790T>G | |
4 | g.1801437C>A | CA438062774 | FGFR3 | c.516C>A (p.Val172=) c.504C>A (p.Val168=) n.772C>A n.791C>A | |
4 | g.1801437C>G | CA438062775 | FGFR3 | c.516C>G (p.Val172=) c.504C>G (p.Val168=) n.772C>G n.791C>G | gnomAD v4 |
4 | g.1801437C>T | CA438062776 | FGFR3 | c.516C>T (p.Val172=) c.504C>T (p.Val168=) n.772C>T n.791C>T | gnomAD v4 |
4 | g.1801438C>A | CA355975005 | FGFR3 | c.517C>A (p.Arg173Ser) c.505C>A (p.Arg169Ser) n.773C>A n.792C>A | gnomAD v4 |
4 | g.1801438C= | CA1433504817 | FGFR3 | c.517C= (p.Arg173=) c.505C= (p.Arg169=) n.773C= n.792C= | |
4 | g.1801438C>G | CA355975007 | FGFR3 | c.517C>G (p.Arg173Gly) c.505C>G (p.Arg169Gly) n.773C>G n.792C>G | gnomAD v4 |
4 | g.1801438C>T | CA91249159 | FGFR3 | c.517C>T (p.Arg173Cys) c.505C>T (p.Arg169Cys) n.773C>T n.792C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801439G>A | CA355975010 | FGFR3 | c.518G>A (p.Arg173His) c.506G>A (p.Arg169His) n.774G>A n.793G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801439G>C | CA355975012 | FGFR3 | c.518G>C (p.Arg173Pro) c.506G>C (p.Arg169Pro) n.774G>C n.793G>C | dbSNP |
4 | g.1801439G= | CA1433504818 | FGFR3 | c.518G= (p.Arg173=) c.506G= (p.Arg169=) n.774G= n.793G= | |
4 | g.1801439G>T | CA355975014 | FGFR3 | c.518G>T (p.Arg173Leu) c.506G>T (p.Arg169Leu) n.774G>T n.793G>T | gnomAD v4 |
4 | g.1801440C>A | CA438062777 | FGFR3 | c.519C>A (p.Arg173=) c.507C>A (p.Arg169=) n.775C>A n.794C>A | |
4 | g.1801440C>G | CA438062778 | FGFR3 | c.519C>G (p.Arg173=) c.507C>G (p.Arg169=) n.775C>G n.794C>G | |
4 | g.1801440C>T | CA438062779 | FGFR3 | c.519C>T (p.Arg173=) c.507C>T (p.Arg169=) n.775C>T n.794C>T | gnomAD v4 |
4 | g.1801441T>A | CA355975016 | FGFR3 | c.520T>A (p.Phe174Ile) c.508T>A (p.Phe170Ile) n.776T>A n.795T>A | |
4 | g.1801441T>C | CA355975017 | FGFR3 | c.520T>C (p.Phe174Leu) c.508T>C (p.Phe170Leu) n.776T>C n.795T>C | |
4 | g.1801441T>G | CA355975019 | FGFR3 | c.520T>G (p.Phe174Val) c.508T>G (p.Phe170Val) n.776T>G n.795T>G | |
4 | g.1801442T>A | CA355975023 | FGFR3 | c.521T>A (p.Phe174Tyr) c.509T>A (p.Phe170Tyr) n.777T>A n.796T>A | |
4 | g.1801442T>C | CA355975025 | FGFR3 | c.521T>C (p.Phe174Ser) c.509T>C (p.Phe170Ser) n.777T>C n.796T>C | |
4 | g.1801442T>G | CA355975021 | FGFR3 | c.521T>G (p.Phe174Cys) c.509T>G (p.Phe170Cys) n.777T>G n.796T>G | |
4 | g.1801443C>A | CA355975026 | FGFR3 | c.522C>A (p.Phe174Leu) c.510C>A (p.Phe170Leu) n.778C>A n.797C>A | gnomAD v4 |
4 | g.1801443C>G | CA355975028 | FGFR3 | c.522C>G (p.Phe174Leu) c.510C>G (p.Phe170Leu) n.778C>G n.797C>G | |
4 | g.1801443C>T | CA438062780 | FGFR3 | c.522C>T (p.Phe174=) c.510C>T (p.Phe170=) n.778C>T n.797C>T | gnomAD v4 |
4 | g.1801444C>A | CA355975030 | FGFR3 | c.523C>A (p.Arg175Ser) c.511C>A (p.Arg171Ser) n.779C>A n.798C>A | gnomAD v4 |
4 | g.1801444C= | CA1433504819 | FGFR3 | c.523C= (p.Arg175=) c.511C= (p.Arg171=) n.779C= n.798C= | |
4 | g.1801444C>G | CA355975031 | FGFR3 | c.523C>G (p.Arg175Gly) c.511C>G (p.Arg171Gly) n.779C>G n.798C>G | |
4 | g.1801444C>T | CA355975032 | FGFR3 | c.523C>T (p.Arg175Cys) c.511C>T (p.Arg171Cys) n.779C>T n.798C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801445G>A | CA2809863 | FGFR3 | c.524G>A (p.Arg175His) c.512G>A (p.Arg171His) n.780G>A n.799G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801445G>C | CA355975035 | FGFR3 | c.524G>C (p.Arg175Pro) c.512G>C (p.Arg171Pro) n.780G>C n.799G>C | dbSNP |
4 | g.1801445G= | CA1433504820 | FGFR3 | c.524G= (p.Arg175=) c.512G= (p.Arg171=) n.780G= n.799G= | |
4 | g.1801445G>T | CA355975036 | FGFR3 | c.524G>T (p.Arg175Leu) c.512G>T (p.Arg171Leu) n.780G>T n.799G>T | gnomAD v4 |
4 | g.1801446C>A | CA438062781 | FGFR3 | c.525C>A (p.Arg175=) c.513C>A (p.Arg171=) n.781C>A n.800C>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.1801446C= | CA1433504821 | FGFR3 | c.525C= (p.Arg175=) c.513C= (p.Arg171=) n.781C= n.800C= | |
4 | g.1801446C>G | CA438062782 | FGFR3 | c.525C>G (p.Arg175=) c.513C>G (p.Arg171=) n.781C>G n.800C>G | |
4 | g.1801446C>T | CA438062783 | FGFR3 | c.525C>T (p.Arg175=) c.513C>T (p.Arg171=) n.781C>T n.800C>T | gnomAD v4 |
4 | g.1801447T>A | CA355975037 | FGFR3 | c.526T>A (p.Cys176Ser) c.514T>A (p.Cys172Ser) n.782T>A n.801T>A | |
4 | g.1801447T>C | CA355975038 | FGFR3 | c.526T>C (p.Cys176Arg) c.514T>C (p.Cys172Arg) n.782T>C n.801T>C | gnomAD v4 |
4 | g.1801447T>G | CA355975040 | FGFR3 | c.526T>G (p.Cys176Gly) c.514T>G (p.Cys172Gly) n.782T>G n.801T>G | |
4 | g.1801448G>A | CA355975043 | FGFR3 | c.527G>A (p.Cys176Tyr) c.515G>A (p.Cys172Tyr) n.783G>A n.802G>A | dbSNP gnomAD v4 |
4 | g.1801448G>C | CA355975045 | FGFR3 | c.527G>C (p.Cys176Ser) c.515G>C (p.Cys172Ser) n.783G>C n.802G>C | gnomAD v4 |
4 | g.1801448G>T | CA355975042 | FGFR3 | c.527G>T (p.Cys176Phe) c.515G>T (p.Cys172Phe) n.783G>T n.802G>T | gnomAD v4 |
4 | g.1801449C>A | CA355975047 | FGFR3 | c.528C>A (p.Cys176Ter) c.516C>A (p.Cys172Ter) n.784C>A n.803C>A | gnomAD v4 |
4 | g.1801449C= | CA1433504822 | FGFR3 | c.528C= (p.Cys176=) c.516C= (p.Cys172=) n.784C= n.803C= | |
4 | g.1801449C>G | CA355975049 | FGFR3 | c.528C>G (p.Cys176Trp) c.516C>G (p.Cys172Trp) n.784C>G n.803C>G | |
4 | g.1801449C>T | CA438062784 | FGFR3 | c.528C>T (p.Cys176=) c.516C>T (p.Cys172=) n.784C>T n.803C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801450C>A | CA355975051 | FGFR3 | c.529C>A (p.Pro177Thr) c.517C>A (p.Pro173Thr) n.785C>A n.804C>A | gnomAD v4 |
4 | g.1801450C>G | CA355975053 | FGFR3 | c.529C>G (p.Pro177Ala) c.517C>G (p.Pro173Ala) n.785C>G n.804C>G | |
4 | g.1801450C>T | CA355975055 | FGFR3 | c.529C>T (p.Pro177Ser) c.517C>T (p.Pro173Ser) n.785C>T n.804C>T | |
4 | g.1801451C>A | CA355975060 | FGFR3 | c.530C>A (p.Pro177Gln) c.518C>A (p.Pro173Gln) n.786C>A n.805C>A | dbSNP gnomAD v4 |
4 | g.1801451C>G | CA355975056 | FGFR3 | c.530C>G (p.Pro177Arg) c.518C>G (p.Pro173Arg) n.786C>G n.805C>G | |
4 | g.1801451C>T | CA355975058 | FGFR3 | c.530C>T (p.Pro177Leu) c.518C>T (p.Pro173Leu) n.786C>T n.805C>T | gnomAD v4 COSMIC COSMIC |
4 | g.1801451_1801452insCTGGC | CA2669560528 | FGFR3 | c.530_531insCTGGC (p.Ala178TrpfsTer14) c.518_519insCTGGC (p.Ala174TrpfsTer14) n.786_787insCTGGC n.805_806insCTGGC | gnomAD v4 |
4 | g.1801452A= | CA1433504823 | FGFR3 | c.531A= (p.Pro177=) c.519A= (p.Pro173=) n.787A= n.806A= | |
4 | g.1801452A>C | CA438062785 | FGFR3 | c.531A>C (p.Pro177=) c.519A>C (p.Pro173=) n.787A>C n.806A>C | |
4 | g.1801452A>G | CA438062786 | FGFR3 | c.531A>G (p.Pro177=) c.519A>G (p.Pro173=) n.787A>G n.806A>G | dbSNP gnomAD v4 |
4 | g.1801452A>T | CA438062787 | FGFR3 | c.531A>T (p.Pro177=) c.519A>T (p.Pro173=) n.787A>T n.806A>T | |
4 | g.1801453G>A | CA355975062 | FGFR3 | c.532G>A (p.Ala178Thr) c.520G>A (p.Ala174Thr) n.788G>A n.807G>A | dbSNP gnomAD v4 |
4 | g.1801453G>C | CA355975063 | FGFR3 | c.532G>C (p.Ala178Pro) c.520G>C (p.Ala174Pro) n.788G>C n.807G>C | dbSNP |
4 | g.1801453G>T | CA355975065 | FGFR3 | c.532G>T (p.Ala178Ser) c.520G>T (p.Ala174Ser) n.788G>T n.807G>T | dbSNP gnomAD v4 |
4 | g.1801455_1801456insTGCCTGCC | CA2669560529 | FGFR3 | c.534_535insTGCCTGCC (p.Ala179CysfsTer14) c.522_523insTGCCTGCC (p.Ala175CysfsTer14) n.790_791insTGCCTGCC n.809_810insTGCCTGCC | gnomAD v4 |
4 | g.1801454C>A | CA355975067 | FGFR3 | c.533C>A (p.Ala178Asp) c.521C>A (p.Ala174Asp) n.789C>A n.808C>A | |
4 | g.1801454C>G | CA355975069 | FGFR3 | c.533C>G (p.Ala178Gly) c.521C>G (p.Ala174Gly) n.789C>G n.808C>G | |
4 | g.1801454C>T | CA355975071 | FGFR3 | c.533C>T (p.Ala178Val) c.521C>T (p.Ala174Val) n.789C>T n.808C>T | dbSNP gnomAD v4 |
4 | g.1801455C>A | CA438062788 | FGFR3 | c.534C>A (p.Ala178=) c.522C>A (p.Ala174=) n.790C>A n.809C>A | |
4 | g.1801455C= | CA1433504824 | FGFR3 | c.534C= (p.Ala178=) c.522C= (p.Ala174=) n.790C= n.809C= | |
4 | g.1801455C>G | CA438062789 | FGFR3 | c.534C>G (p.Ala178=) c.522C>G (p.Ala174=) n.790C>G n.809C>G | |
4 | g.1801455C>T | CA2809864 | FGFR3 | c.534C>T (p.Ala178=) c.522C>T (p.Ala174=) n.790C>T n.809C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801456G>A | CA2809865 | FGFR3 | c.535G>A (p.Ala179Thr) c.523G>A (p.Ala175Thr) n.791G>A n.810G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801456G>C | CA355975073 | FGFR3 | c.535G>C (p.Ala179Pro) c.523G>C (p.Ala175Pro) n.791G>C n.810G>C | dbSNP |
4 | g.1801456G= | CA1433504825 | FGFR3 | c.535G= (p.Ala179=) c.523G= (p.Ala175=) n.791G= n.810G= | |
4 | g.1801456G>T | CA355975076 | FGFR3 | c.535G>T (p.Ala179Ser) c.523G>T (p.Ala175Ser) n.791G>T n.810G>T | gnomAD v4 |
4 | g.1801457C>A | CA355975077 | FGFR3 | c.536C>A (p.Ala179Asp) c.524C>A (p.Ala175Asp) n.792C>A n.811C>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801457C= | CA1433504826 | FGFR3 | c.536C= (p.Ala179=) c.524C= (p.Ala175=) n.792C= n.811C= | |
4 | g.1801457C>G | CA355975078 | FGFR3 | c.536C>G (p.Ala179Gly) c.524C>G (p.Ala175Gly) n.792C>G n.811C>G | |
4 | g.1801457C>T | CA355975081 | FGFR3 | c.536C>T (p.Ala179Val) c.524C>T (p.Ala175Val) n.792C>T n.811C>T | dbSNP gnomAD v2 |
4 | g.1801458T>A | CA438062790 | FGFR3 | c.537T>A (p.Ala179=) c.525T>A (p.Ala175=) n.793T>A n.812T>A | |
4 | g.1801458T>C | CA438062791 | FGFR3 | c.537T>C (p.Ala179=) c.525T>C (p.Ala175=) n.793T>C n.812T>C | |
4 | g.1801458T>G | CA438062792 | FGFR3 | c.537T>G (p.Ala179=) c.525T>G (p.Ala175=) n.793T>G n.812T>G | |
4 | g.1801459G>A | CA355975083 | FGFR3 | c.538G>A (p.Gly180Ser) c.526G>A (p.Gly176Ser) n.794G>A n.813G>A | dbSNP |
4 | g.1801459G>C | CA355975085 | FGFR3 | c.538G>C (p.Gly180Arg) c.526G>C (p.Gly176Arg) n.794G>C n.813G>C | |
4 | g.1801459G>T | CA355975086 | FGFR3 | c.538G>T (p.Gly180Cys) c.526G>T (p.Gly176Cys) n.794G>T n.813G>T | |
4 | g.1801460G>A | CA355975088 | FGFR3 | c.539G>A (p.Gly180Asp) c.527G>A (p.Gly176Asp) n.795G>A n.814G>A | gnomAD v4 COSMIC COSMIC |
4 | g.1801460G>C | CA355975090 | FGFR3 | c.539G>C (p.Gly180Ala) c.527G>C (p.Gly176Ala) n.795G>C n.814G>C | dbSNP |
4 | g.1801460G>T | CA355975091 | FGFR3 | c.539G>T (p.Gly180Val) c.527G>T (p.Gly176Val) n.795G>T n.814G>T | gnomAD v4 |
4 | g.1801461C>A | CA438062793 | FGFR3 | c.540C>A (p.Gly180=) c.528C>A (p.Gly176=) n.796C>A n.815C>A | gnomAD v4 |
4 | g.1801461C= | CA1433504827 | FGFR3 | c.540C= (p.Gly180=) c.528C= (p.Gly176=) n.796C= n.815C= | |
4 | g.1801461C>G | CA438062794 | FGFR3 | c.540C>G (p.Gly180=) c.528C>G (p.Gly176=) n.796C>G n.815C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801461C>T | CA438062795 | FGFR3 | c.540C>T (p.Gly180=) c.528C>T (p.Gly176=) n.796C>T n.815C>T | dbSNP gnomAD v4 |
4 | g.1801462A>C | CA355975093 | FGFR3 | c.541A>C (p.Asn181His) c.529A>C (p.Asn177His) c.1A>C (p.Asn1His) n.797A>C n.816A>C | |
4 | g.1801462A>G | CA355975094 | FGFR3 | c.541A>G (p.Asn181Asp) c.529A>G (p.Asn177Asp) c.1A>G (p.Asn1Asp) n.797A>G n.816A>G | |
4 | g.1801462A>T | CA355975095 | FGFR3 | c.541A>T (p.Asn181Tyr) c.529A>T (p.Asn177Tyr) c.1A>T (p.Asn1Tyr) n.797A>T n.816A>T | |
4 | g.1801463A= | CA1433504828 | FGFR3 | c.542A= (p.Asn181=) c.530A= (p.Asn177=) c.2A= (p.Asn1=) n.798A= n.817A= | |
4 | g.1801463A>C | CA355975101 | FGFR3 | c.542A>C (p.Asn181Thr) c.530A>C (p.Asn177Thr) c.2A>C (p.Asn1Thr) n.798A>C n.817A>C | dbSNP |
4 | g.1801463A>G | CA355975098 | FGFR3 | c.542A>G (p.Asn181Ser) c.530A>G (p.Asn177Ser) c.2A>G (p.Asn1Ser) n.798A>G n.817A>G | |
4 | g.1801463A>T | CA355975099 | FGFR3 | c.542A>T (p.Asn181Ile) c.530A>T (p.Asn177Ile) c.2A>T (p.Asn1Ile) n.798A>T n.817A>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801464C>A | CA355975103 | FGFR3 | c.543C>A (p.Asn181Lys) c.531C>A (p.Asn177Lys) c.3C>A (p.Asn1Lys) n.799C>A n.818C>A | gnomAD v4 |
4 | g.1801464C= | CA1433504829 | FGFR3 | c.543C= (p.Asn181=) c.531C= (p.Asn177=) c.3C= (p.Asn1=) n.799C= n.818C= | |
4 | g.1801464C>G | CA355975104 | FGFR3 | c.543C>G (p.Asn181Lys) c.531C>G (p.Asn177Lys) c.3C>G (p.Asn1Lys) n.799C>G n.818C>G | |
4 | g.1801464C>T | CA438062796 | FGFR3 | c.543C>T (p.Asn181=) c.531C>T (p.Asn177=) c.3C>T (p.Asn1=) n.799C>T n.818C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801466_1801467del | CA2760148334 | FGFR3 | c.545_546del (p.Pro182HisfsTer?) c.533_534del (p.Pro178HisfsTer?) c.5_6del (p.Pro2HisfsTer?) n.801_802del n.820_821del | |
4 | g.1801465C>A | CA355975105 | FGFR3 | c.544C>A (p.Pro182Thr) c.532C>A (p.Pro178Thr) c.4C>A (p.Pro2Thr) n.800C>A n.819C>A | |
4 | g.1801465C>G | CA355975107 | FGFR3 | c.544C>G (p.Pro182Ala) c.532C>G (p.Pro178Ala) c.4C>G (p.Pro2Ala) n.800C>G n.819C>G | |
4 | g.1801465C>T | CA355975109 | FGFR3 | c.544C>T (p.Pro182Ser) c.532C>T (p.Pro178Ser) c.4C>T (p.Pro2Ser) n.800C>T n.819C>T | |
4 | g.1801466C>A | CA355975110 | FGFR3 | c.545C>A (p.Pro182His) c.533C>A (p.Pro178His) c.5C>A (p.Pro2His) n.801C>A n.820C>A | dbSNP gnomAD v4 |
4 | g.1801466C>G | CA355975112 | FGFR3 | c.545C>G (p.Pro182Arg) c.533C>G (p.Pro178Arg) c.5C>G (p.Pro2Arg) n.801C>G n.820C>G | dbSNP |
4 | g.1801466C>T | CA355975113 | FGFR3 | c.545C>T (p.Pro182Leu) c.533C>T (p.Pro178Leu) c.5C>T (p.Pro2Leu) n.801C>T n.820C>T | gnomAD v4 |
4 | g.1801467C>A | CA438062797 | FGFR3 | c.546C>A (p.Pro182=) c.534C>A (p.Pro178=) c.6C>A (p.Pro2=) n.802C>A n.821C>A | gnomAD v4 |
4 | g.1801467C= | CA1433504830 | FGFR3 | c.546C= (p.Pro182=) c.534C= (p.Pro178=) c.6C= (p.Pro2=) n.802C= n.821C= | |
4 | g.1801467C>G | CA438062798 | FGFR3 | c.546C>G (p.Pro182=) c.534C>G (p.Pro178=) c.6C>G (p.Pro2=) n.802C>G n.821C>G | |
4 | g.1801467C>T | CA91249172 | FGFR3 | c.546C>T (p.Pro182=) c.534C>T (p.Pro178=) c.6C>T (p.Pro2=) n.802C>T n.821C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801468A>C | CA355975114 | FGFR3 | c.547A>C (p.Thr183Pro) c.535A>C (p.Thr179Pro) c.7A>C (p.Thr3Pro) n.803A>C n.822A>C | |
4 | g.1801468A>G | CA355975115 | FGFR3 | c.547A>G (p.Thr183Ala) c.535A>G (p.Thr179Ala) c.7A>G (p.Thr3Ala) n.803A>G n.822A>G | |
4 | g.1801468A>T | CA355975117 | FGFR3 | c.547A>T (p.Thr183Ser) c.535A>T (p.Thr179Ser) c.7A>T (p.Thr3Ser) n.803A>T n.822A>T | |
4 | g.1801469C>A | CA355975121 | FGFR3 | c.548C>A (p.Thr183Asn) c.536C>A (p.Thr179Asn) c.8C>A (p.Thr3Asn) n.804C>A n.823C>A | gnomAD v4 |
4 | g.1801469C>G | CA355975120 | FGFR3 | c.548C>G (p.Thr183Ser) c.536C>G (p.Thr179Ser) c.8C>G (p.Thr3Ser) n.804C>G n.823C>G | |
4 | g.1801469C>T | CA355975119 | FGFR3 | c.548C>T (p.Thr183Ile) c.536C>T (p.Thr179Ile) c.8C>T (p.Thr3Ile) n.804C>T n.823C>T | |
4 | g.1801470T>A | CA438062800 | FGFR3 | c.549T>A (p.Thr183=) c.537T>A (p.Thr179=) c.9T>A (p.Thr3=) n.805T>A n.824T>A | gnomAD v4 |
4 | g.1801470T>C | CA438062801 | FGFR3 | c.549T>C (p.Thr183=) c.537T>C (p.Thr179=) c.9T>C (p.Thr3=) n.805T>C n.824T>C | gnomAD v4 |
4 | g.1801470T>G | CA438062799 | FGFR3 | c.549T>G (p.Thr183=) c.537T>G (p.Thr179=) c.9T>G (p.Thr3=) n.805T>G n.824T>G | |
4 | g.1801471C>A | CA355975122 | FGFR3 | c.550C>A (p.Pro184Thr) c.538C>A (p.Pro180Thr) c.10C>A (p.Pro4Thr) n.806C>A n.825C>A | gnomAD v4 |
4 | g.1801471C>G | CA355975123 | FGFR3 | c.550C>G (p.Pro184Ala) c.538C>G (p.Pro180Ala) c.10C>G (p.Pro4Ala) n.806C>G n.825C>G | |
4 | g.1801471C>T | CA355975126 | FGFR3 | c.550C>T (p.Pro184Ser) c.538C>T (p.Pro180Ser) c.10C>T (p.Pro4Ser) n.806C>T n.825C>T | |
4 | g.1801472C>A | CA355975128 | FGFR3 | c.551C>A (p.Pro184His) c.539C>A (p.Pro180His) c.11C>A (p.Pro4His) n.807C>A n.826C>A | gnomAD v4 |
4 | g.1801472C>G | CA355975129 | FGFR3 | c.551C>G (p.Pro184Arg) c.539C>G (p.Pro180Arg) c.11C>G (p.Pro4Arg) n.807C>G n.826C>G | |
4 | g.1801472C>T | CA355975132 | FGFR3 | c.551C>T (p.Pro184Leu) c.539C>T (p.Pro180Leu) c.11C>T (p.Pro4Leu) n.807C>T n.826C>T | gnomAD v4 |
4 | g.1801473C>A | CA438062802 | FGFR3 | c.552C>A (p.Pro184=) c.540C>A (p.Pro180=) c.12C>A (p.Pro4=) n.808C>A n.827C>A | dbSNP gnomAD v4 |
4 | g.1801473C= | CA1433504831 | FGFR3 | c.552C= (p.Pro184=) c.540C= (p.Pro180=) c.12C= (p.Pro4=) n.808C= n.827C= | |
4 | g.1801473C>G | CA438062803 | FGFR3 | c.552C>G (p.Pro184=) c.540C>G (p.Pro180=) c.12C>G (p.Pro4=) n.808C>G n.827C>G | |
4 | g.1801473C>T | CA2809866 | FGFR3 | c.552C>T (p.Pro184=) c.540C>T (p.Pro180=) c.12C>T (p.Pro4=) n.808C>T n.827C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.1801474T>A | CA355975136 | FGFR3 | c.553T>A (p.Ser185Thr) c.541T>A (p.Ser181Thr) c.13T>A (p.Ser5Thr) n.809T>A n.828T>A | gnomAD v4 |
4 | g.1801474T>C | CA355975139 | FGFR3 | c.553T>C (p.Ser185Pro) c.541T>C (p.Ser181Pro) c.13T>C (p.Ser5Pro) n.809T>C n.828T>C | |
4 | g.1801474T>G | CA355975137 | FGFR3 | c.553T>G (p.Ser185Ala) c.541T>G (p.Ser181Ala) c.13T>G (p.Ser5Ala) n.809T>G n.828T>G | |
4 | g.1801475C>A | CA355975141 | FGFR3 | c.554C>A (p.Ser185Tyr) c.542C>A (p.Ser181Tyr) c.14C>A (p.Ser5Tyr) n.810C>A n.829C>A | gnomAD v4 |
4 | g.1801475C>G | CA355975142 | FGFR3 | c.554C>G (p.Ser185Cys) c.542C>G (p.Ser181Cys) c.14C>G (p.Ser5Cys) n.810C>G n.829C>G | |
4 | g.1801475C>T | CA355975144 | FGFR3 | c.554C>T (p.Ser185Phe) c.542C>T (p.Ser181Phe) c.14C>T (p.Ser5Phe) n.810C>T n.829C>T | gnomAD v4 |
4 | g.1801476C>A | CA2809867 | FGFR3 | c.555C>A (p.Ser185=) c.543C>A (p.Ser181=) c.15C>A (p.Ser5=) n.811C>A n.830C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.1801476C= | CA1433504832 | FGFR3 | c.555C= (p.Ser185=) c.543C= (p.Ser181=) c.15C= (p.Ser5=) n.811C= n.830C= | |
4 | g.1801476C>G | CA438062804 | FGFR3 | c.555C>G (p.Ser185=) c.543C>G (p.Ser181=) c.15C>G (p.Ser5=) n.811C>G n.830C>G | |
4 | g.1801476C>T | CA438062805 | FGFR3 | c.555C>T (p.Ser185=) c.543C>T (p.Ser181=) c.15C>T (p.Ser5=) n.811C>T n.830C>T | gnomAD v4 |
4 | g.1801477A= | CA1433504833 | FGFR3 | c.556A= (p.Ile186=) c.544A= (p.Ile182=) c.16A= (p.Ile6=) n.812A= n.831A= | |
4 | g.1801477A>C | CA355975147 | FGFR3 | c.556A>C (p.Ile186Leu) c.544A>C (p.Ile182Leu) c.16A>C (p.Ile6Leu) n.812A>C n.831A>C | |
4 | g.1801477A>G | CA355975150 | FGFR3 | c.556A>G (p.Ile186Val) c.544A>G (p.Ile182Val) c.16A>G (p.Ile6Val) n.812A>G n.831A>G | ClinVar dbSNP gnomAD v4 |
4 | g.1801477A>T | CA355975148 | FGFR3 | c.556A>T (p.Ile186Phe) c.544A>T (p.Ile182Phe) c.16A>T (p.Ile6Phe) n.812A>T n.831A>T | |
4 | g.1801478T>A | CA355975152 | FGFR3 | c.557T>A (p.Ile186Asn) c.545T>A (p.Ile182Asn) c.17T>A (p.Ile6Asn) n.813T>A n.832T>A | gnomAD v4 |
4 | g.1801478T>C | CA355975153 | FGFR3 | c.557T>C (p.Ile186Thr) c.545T>C (p.Ile182Thr) c.17T>C (p.Ile6Thr) n.813T>C n.832T>C | |
4 | g.1801478T>G | CA355975155 | FGFR3 | c.557T>G (p.Ile186Ser) c.545T>G (p.Ile182Ser) c.17T>G (p.Ile6Ser) n.813T>G n.832T>G | |
4 | g.1801479C>A | CA438062807 | FGFR3 | c.558C>A (p.Ile186=) c.546C>A (p.Ile182=) c.18C>A (p.Ile6=) n.814C>A n.833C>A | gnomAD v4 |
4 | g.1801479C= | CA1433504834 | FGFR3 | c.558C= (p.Ile186=) c.546C= (p.Ile182=) c.18C= (p.Ile6=) n.814C= n.833C= | |
4 | g.1801479C>G | CA355975160 | FGFR3 | c.558C>G (p.Ile186Met) c.546C>G (p.Ile182Met) c.18C>G (p.Ile6Met) n.814C>G n.833C>G | |
4 | g.1801479C>T | CA438062806 | FGFR3 | c.558C>T (p.Ile186=) c.546C>T (p.Ile182=) c.18C>T (p.Ile6=) n.814C>T n.833C>T | dbSNP gnomAD v2 |
4 | g.1801480T>A | CA355975162 | FGFR3 | c.559T>A (p.Ser187Thr) c.547T>A (p.Ser183Thr) c.19T>A (p.Ser7Thr) n.815T>A n.834T>A | |
4 | g.1801480T>C | CA355975163 | FGFR3 | c.559T>C (p.Ser187Pro) c.547T>C (p.Ser183Pro) c.19T>C (p.Ser7Pro) n.815T>C n.834T>C | |
4 | g.1801480T>G | CA355975165 | FGFR3 | c.559T>G (p.Ser187Ala) c.547T>G (p.Ser183Ala) c.19T>G (p.Ser7Ala) n.815T>G n.834T>G | |
4 | g.1801481C>A | CA2809868 | FGFR3 | c.560C>A (p.Ser187Tyr) c.548C>A (p.Ser183Tyr) c.20C>A (p.Ser7Tyr) n.816C>A n.835C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801481C= | CA1433504835 | FGFR3 | c.560C= (p.Ser187=) c.548C= (p.Ser183=) c.20C= (p.Ser7=) n.816C= n.835C= | |
4 | g.1801481C>G | CA355975167 | FGFR3 | c.560C>G (p.Ser187Cys) c.548C>G (p.Ser183Cys) c.20C>G (p.Ser7Cys) n.816C>G n.835C>G | |
4 | g.1801481C>T | CA355975169 | FGFR3 | c.560C>T (p.Ser187Phe) c.548C>T (p.Ser183Phe) c.20C>T (p.Ser7Phe) n.816C>T n.835C>T | gnomAD v4 |
4 | g.1801482C>A | CA438062808 | FGFR3 | c.561C>A (p.Ser187=) c.549C>A (p.Ser183=) c.21C>A (p.Ser7=) n.817C>A n.836C>A | gnomAD v4 |
4 | g.1801482C= | CA1433504836 | FGFR3 | c.561C= (p.Ser187=) c.549C= (p.Ser183=) c.21C= (p.Ser7=) n.817C= n.836C= | |
4 | g.1801482C>G | CA438062810 | FGFR3 | c.561C>G (p.Ser187=) c.549C>G (p.Ser183=) c.21C>G (p.Ser7=) n.817C>G n.836C>G | dbSNP |
4 | g.1801482C>T | CA438062809 | FGFR3 | c.561C>T (p.Ser187=) c.549C>T (p.Ser183=) c.21C>T (p.Ser7=) n.817C>T n.836C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801483T>A | CA355975174 | FGFR3 | c.562T>A (p.Trp188Arg) c.550T>A (p.Trp184Arg) c.22T>A (p.Trp8Arg) n.818T>A n.837T>A | |
4 | g.1801483T>C | CA355975173 | FGFR3 | c.562T>C (p.Trp188Arg) c.550T>C (p.Trp184Arg) c.22T>C (p.Trp8Arg) n.818T>C n.837T>C | gnomAD v4 |
4 | g.1801483T>G | CA355975171 | FGFR3 | c.562T>G (p.Trp188Gly) c.550T>G (p.Trp184Gly) c.22T>G (p.Trp8Gly) n.818T>G n.837T>G | |
4 | g.1801484G>A | CA355975176 | FGFR3 | c.563G>A (p.Trp188Ter) c.551G>A (p.Trp184Ter) c.23G>A (p.Trp8Ter) n.819G>A n.838G>A | |
4 | g.1801484G>C | CA355975180 | FGFR3 | c.563G>C (p.Trp188Ser) c.551G>C (p.Trp184Ser) c.23G>C (p.Trp8Ser) n.819G>C n.838G>C | dbSNP |
4 | g.1801484G>T | CA355975178 | FGFR3 | c.563G>T (p.Trp188Leu) c.551G>T (p.Trp184Leu) c.23G>T (p.Trp8Leu) n.819G>T n.838G>T | gnomAD v4 |
4 | g.1801485G>A | CA355975181 | FGFR3 | c.564G>A (p.Trp188Ter) c.552G>A (p.Trp184Ter) c.24G>A (p.Trp8Ter) n.820G>A n.839G>A | dbSNP gnomAD v4 |
4 | g.1801485G>C | CA355975182 | FGFR3 | c.564G>C (p.Trp188Cys) c.552G>C (p.Trp184Cys) c.24G>C (p.Trp8Cys) n.820G>C n.839G>C | |
4 | g.1801485G>T | CA355975183 | FGFR3 | c.564G>T (p.Trp188Cys) c.552G>T (p.Trp184Cys) c.24G>T (p.Trp8Cys) n.820G>T n.839G>T | |
4 | g.1801486C>A | CA355975184 | FGFR3 | c.565C>A (p.Leu189Met) c.553C>A (p.Leu185Met) c.25C>A (p.Leu9Met) n.821C>A n.840C>A | gnomAD v4 |
4 | g.1801486C= | CA1433504837 | FGFR3 | c.565C= (p.Leu189=) c.553C= (p.Leu185=) c.25C= (p.Leu9=) n.821C= n.840C= | |
4 | g.1801486C>G | CA355975185 | FGFR3 | c.565C>G (p.Leu189Val) c.553C>G (p.Leu185Val) c.25C>G (p.Leu9Val) n.821C>G n.840C>G | |
4 | g.1801486C>T | CA91249178 | FGFR3 | c.565C>T (p.Leu189=) c.553C>T (p.Leu185=) c.25C>T (p.Leu9=) n.821C>T n.840C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801487T>A | CA355975188 | FGFR3 | c.566T>A (p.Leu189Gln) c.554T>A (p.Leu185Gln) c.26T>A (p.Leu9Gln) n.822T>A n.841T>A | |
4 | g.1801487T>C | CA355975189 | FGFR3 | c.566T>C (p.Leu189Pro) c.554T>C (p.Leu185Pro) c.26T>C (p.Leu9Pro) n.822T>C n.841T>C | |
4 | g.1801487T>G | CA355975191 | FGFR3 | c.566T>G (p.Leu189Arg) c.554T>G (p.Leu185Arg) c.26T>G (p.Leu9Arg) n.822T>G n.841T>G | dbSNP |
4 | g.1801487T= | CA1433504838 | FGFR3 | c.566T= (p.Leu189=) c.554T= (p.Leu185=) c.26T= (p.Leu9=) n.822T= n.841T= | |
4 | g.1801488G>A | CA438062811 | FGFR3 | c.567G>A (p.Leu189=) c.555G>A (p.Leu185=) c.27G>A (p.Leu9=) n.823G>A n.842G>A | gnomAD v4 |
4 | g.1801488G>C | CA438062812 | FGFR3 | c.567G>C (p.Leu189=) c.555G>C (p.Leu185=) c.27G>C (p.Leu9=) n.823G>C n.842G>C | gnomAD v4 |
4 | g.1801488G>T | CA438062813 | FGFR3 | c.567G>T (p.Leu189=) c.555G>T (p.Leu185=) c.27G>T (p.Leu9=) n.823G>T n.842G>T | gnomAD v4 |
4 | g.1801489A= | CA1433504839 | FGFR3 | c.568A= (p.Lys190=) c.556A= (p.Lys186=) c.28A= (p.Lys10=) n.824A= n.843A= | |
4 | g.1801489A>C | CA355975193 | FGFR3 | c.568A>C (p.Lys190Gln) c.556A>C (p.Lys186Gln) c.28A>C (p.Lys10Gln) n.824A>C n.843A>C | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801489A>G | CA355975195 | FGFR3 | c.568A>G (p.Lys190Glu) c.556A>G (p.Lys186Glu) c.28A>G (p.Lys10Glu) n.824A>G n.843A>G | |
4 | g.1801489A>T | CA355975196 | FGFR3 | c.568A>T (p.Lys190Ter) c.556A>T (p.Lys186Ter) c.28A>T (p.Lys10Ter) n.824A>T n.843A>T | |
4 | g.1801490A>C | CA355975198 | FGFR3 | c.569A>C (p.Lys190Thr) c.557A>C (p.Lys186Thr) c.29A>C (p.Lys10Thr) n.825A>C n.844A>C | |
4 | g.1801490A>G | CA355975200 | FGFR3 | c.569A>G (p.Lys190Arg) c.557A>G (p.Lys186Arg) c.29A>G (p.Lys10Arg) n.825A>G n.844A>G | gnomAD v4 |
4 | g.1801490A>T | CA355975202 | FGFR3 | c.569A>T (p.Lys190Met) c.557A>T (p.Lys186Met) c.29A>T (p.Lys10Met) n.825A>T n.844A>T | |
4 | g.1801491G>A | CA438062814 | FGFR3 | c.570G>A (p.Lys190=) c.558G>A (p.Lys186=) c.30G>A (p.Lys10=) n.826G>A n.845G>A | dbSNP gnomAD v2 |
4 | g.1801491G>C | CA355975204 | FGFR3 | c.570G>C (p.Lys190Asn) c.558G>C (p.Lys186Asn) c.30G>C (p.Lys10Asn) n.826G>C n.845G>C | |
4 | g.1801491G= | CA1433504840 | FGFR3 | c.570G= (p.Lys190=) c.558G= (p.Lys186=) c.30G= (p.Lys10=) n.826G= n.845G= | |
4 | g.1801491G>T | CA355975205 | FGFR3 | c.570G>T (p.Lys190Asn) c.558G>T (p.Lys186Asn) c.30G>T (p.Lys10Asn) n.826G>T n.845G>T | gnomAD v4 |
4 | g.1801492A>C | CA355975208 | FGFR3 | c.571A>C (p.Asn191His) c.559A>C (p.Asn187His) c.31A>C (p.Asn11His) n.827A>C n.846A>C | |
4 | g.1801492A>G | CA355975209 | FGFR3 | c.571A>G (p.Asn191Asp) c.559A>G (p.Asn187Asp) c.31A>G (p.Asn11Asp) n.827A>G n.846A>G | gnomAD v4 |
4 | g.1801492A>T | CA355975211 | FGFR3 | c.571A>T (p.Asn191Tyr) c.559A>T (p.Asn187Tyr) c.31A>T (p.Asn11Tyr) n.827A>T n.846A>T | |
4 | g.1801493A>C | CA355975214 | FGFR3 | c.572A>C (p.Asn191Thr) c.560A>C (p.Asn187Thr) c.32A>C (p.Asn11Thr) n.828A>C n.847A>C | dbSNP |
4 | g.1801493A>G | CA355975216 | FGFR3 | c.572A>G (p.Asn191Ser) c.560A>G (p.Asn187Ser) c.32A>G (p.Asn11Ser) n.828A>G n.847A>G | |
4 | g.1801493A>T | CA355975218 | FGFR3 | c.572A>T (p.Asn191Ile) c.560A>T (p.Asn187Ile) c.32A>T (p.Asn11Ile) n.828A>T n.847A>T | |
4 | g.1801494C>A | CA355975220 | FGFR3 | c.573C>A (p.Asn191Lys) c.561C>A (p.Asn187Lys) c.33C>A (p.Asn11Lys) n.829C>A n.848C>A | gnomAD v4 |
4 | g.1801494C= | CA1433504841 | FGFR3 | c.573C= (p.Asn191=) c.561C= (p.Asn187=) c.33C= (p.Asn11=) n.829C= n.848C= | |
4 | g.1801494C>G | CA355975221 | FGFR3 | c.573C>G (p.Asn191Lys) c.561C>G (p.Asn187Lys) c.33C>G (p.Asn11Lys) n.829C>G n.848C>G | dbSNP |
4 | g.1801494C>T | CA2809869 | FGFR3 | c.573C>T (p.Asn191=) c.561C>T (p.Asn187=) c.33C>T (p.Asn11=) n.829C>T n.848C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801495G>A | CA355975223 | FGFR3 | c.574G>A (p.Gly192Ser) c.562G>A (p.Gly188Ser) c.34G>A (p.Gly12Ser) n.830G>A n.849G>A | dbSNP gnomAD v4 |
4 | g.1801495G>C | CA355975224 | FGFR3 | c.574G>C (p.Gly192Arg) c.562G>C (p.Gly188Arg) c.34G>C (p.Gly12Arg) n.830G>C n.849G>C | |
4 | g.1801495G>T | CA355975226 | FGFR3 | c.574G>T (p.Gly192Cys) c.562G>T (p.Gly188Cys) c.34G>T (p.Gly12Cys) n.830G>T n.849G>T | gnomAD v4 |
4 | g.1801496G>A | CA355975227 | FGFR3 | c.575G>A (p.Gly192Asp) c.563G>A (p.Gly188Asp) c.35G>A (p.Gly12Asp) n.831G>A n.850G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801496G>C | CA355975230 | FGFR3 | c.575G>C (p.Gly192Ala) c.563G>C (p.Gly188Ala) c.35G>C (p.Gly12Ala) n.831G>C n.850G>C | |
4 | g.1801496G= | CA1433504842 | FGFR3 | c.575G= (p.Gly192=) c.563G= (p.Gly188=) c.35G= (p.Gly12=) n.831G= n.850G= | |
4 | g.1801496G>T | CA355975229 | FGFR3 | c.575G>T (p.Gly192Val) c.563G>T (p.Gly188Val) c.35G>T (p.Gly12Val) n.831G>T n.850G>T | gnomAD v4 |
4 | g.1801497C>A | CA438062815 | FGFR3 | c.576C>A (p.Gly192=) c.564C>A (p.Gly188=) c.36C>A (p.Gly12=) n.832C>A n.851C>A | dbSNP gnomAD v4 |
4 | g.1801497C= | CA1433504843 | FGFR3 | c.576C= (p.Gly192=) c.564C= (p.Gly188=) c.36C= (p.Gly12=) n.832C= n.851C= | |
4 | g.1801497C>G | CA438062816 | FGFR3 | c.576C>G (p.Gly192=) c.564C>G (p.Gly188=) c.36C>G (p.Gly12=) n.832C>G n.851C>G | gnomAD v4 |
4 | g.1801497C>T | CA438062817 | FGFR3 | c.576C>T (p.Gly192=) c.564C>T (p.Gly188=) c.36C>T (p.Gly12=) n.832C>T n.851C>T | dbSNP COSMIC COSMIC |
4 | g.1801498A= | CA1433504844 | FGFR3 | c.577A= (p.Arg193=) c.565A= (p.Arg189=) c.37A= (p.Arg13=) n.833A= n.852A= | |
4 | g.1801498A>C | CA438062818 | FGFR3 | c.577A>C (p.Arg193=) c.565A>C (p.Arg189=) c.37A>C (p.Arg13=) n.833A>C n.852A>C | |
4 | g.1801498A>G | CA355975232 | FGFR3 | c.577A>G (p.Arg193Gly) c.565A>G (p.Arg189Gly) c.37A>G (p.Arg13Gly) n.833A>G n.852A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.1801498A>T | CA355975234 | FGFR3 | c.577A>T (p.Arg193Trp) c.565A>T (p.Arg189Trp) c.37A>T (p.Arg13Trp) n.833A>T n.852A>T | |
4 | g.1801499G>A | CA355975236 | FGFR3 | c.578G>A (p.Arg193Lys) c.566G>A (p.Arg189Lys) c.38G>A (p.Arg13Lys) n.834G>A n.853G>A | |
4 | g.1801499G>C | CA355975237 | FGFR3 | c.578G>C (p.Arg193Thr) c.566G>C (p.Arg189Thr) c.38G>C (p.Arg13Thr) n.834G>C n.853G>C | |
4 | g.1801499G>T | CA355975239 | FGFR3 | c.578G>T (p.Arg193Met) c.566G>T (p.Arg189Met) c.38G>T (p.Arg13Met) n.834G>T n.853G>T | gnomAD v4 |
4 | g.1801500G>A | CA438062819 | FGFR3 | c.579G>A (p.Arg193=) c.567G>A (p.Arg189=) c.39G>A (p.Arg13=) n.835G>A n.854G>A | |
4 | g.1801500G>C | CA355975241 | FGFR3 | c.579G>C (p.Arg193Ser) c.567G>C (p.Arg189Ser) c.39G>C (p.Arg13Ser) n.835G>C n.854G>C | |
4 | g.1801500G>T | CA355975242 | FGFR3 | c.579G>T (p.Arg193Ser) c.567G>T (p.Arg189Ser) c.39G>T (p.Arg13Ser) n.835G>T n.854G>T | gnomAD v4 |
4 | g.1801501G>A | CA355975245 | FGFR3 | c.580G>A (p.Glu194Lys) c.568G>A (p.Glu190Lys) c.40G>A (p.Glu14Lys) n.836G>A n.855G>A | COSMIC COSMIC |
4 | g.1801501G>C | CA355975247 | FGFR3 | c.580G>C (p.Glu194Gln) c.568G>C (p.Glu190Gln) c.40G>C (p.Glu14Gln) n.836G>C n.855G>C | |
4 | g.1801501G>T | CA355975248 | FGFR3 | c.580G>T (p.Glu194Ter) c.568G>T (p.Glu190Ter) c.40G>T (p.Glu14Ter) n.836G>T n.855G>T | |
4 | g.1801502A= | CA1433504845 | FGFR3 | c.581A= (p.Glu194=) c.569A= (p.Glu190=) c.41A= (p.Glu14=) n.837A= n.856A= | |
4 | g.1801502A>C | CA355975251 | FGFR3 | c.581A>C (p.Glu194Ala) c.569A>C (p.Glu190Ala) c.41A>C (p.Glu14Ala) n.837A>C n.856A>C | |
4 | g.1801502A>G | CA355975252 | FGFR3 | c.581A>G (p.Glu194Gly) c.569A>G (p.Glu190Gly) c.41A>G (p.Glu14Gly) n.837A>G n.856A>G | gnomAD v4 |
4 | g.1801502A>T | CA2809870 | FGFR3 | c.581A>T (p.Glu194Val) c.569A>T (p.Glu190Val) c.41A>T (p.Glu14Val) n.837A>T n.856A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.1801503G>A | CA438062820 | FGFR3 | c.582G>A (p.Glu194=) c.570G>A (p.Glu190=) c.42G>A (p.Glu14=) n.838G>A n.857G>A | dbSNP gnomAD v4 |
4 | g.1801503G>C | CA355975255 | FGFR3 | c.582G>C (p.Glu194Asp) c.570G>C (p.Glu190Asp) c.42G>C (p.Glu14Asp) n.838G>C n.857G>C | |
4 | g.1801503G>T | CA355975257 | FGFR3 | c.582G>T (p.Glu194Asp) c.570G>T (p.Glu190Asp) c.42G>T (p.Glu14Asp) n.838G>T n.857G>T | gnomAD v4 |
4 | g.1801504T>A | CA355975258 | FGFR3 | c.583T>A (p.Phe195Ile) c.571T>A (p.Phe191Ile) c.43T>A (p.Phe15Ile) n.839T>A n.858T>A | |
4 | g.1801504T>C | CA355975260 | FGFR3 | c.583T>C (p.Phe195Leu) c.571T>C (p.Phe191Leu) c.43T>C (p.Phe15Leu) n.839T>C n.858T>C | gnomAD v4 |
4 | g.1801504T>G | CA355975262 | FGFR3 | c.583T>G (p.Phe195Val) c.571T>G (p.Phe191Val) c.43T>G (p.Phe15Val) n.839T>G n.858T>G | dbSNP gnomAD v4 |
4 | g.1801505T>A | CA355975264 | FGFR3 | c.584T>A (p.Phe195Tyr) c.572T>A (p.Phe191Tyr) c.44T>A (p.Phe15Tyr) n.840T>A n.859T>A | |
4 | g.1801505T>C | CA355975265 | FGFR3 | c.584T>C (p.Phe195Ser) c.572T>C (p.Phe191Ser) c.44T>C (p.Phe15Ser) n.840T>C n.859T>C | |
4 | g.1801505T>G | CA355975266 | FGFR3 | c.584T>G (p.Phe195Cys) c.572T>G (p.Phe191Cys) c.44T>G (p.Phe15Cys) n.840T>G n.859T>G | |
4 | g.1801506C>A | CA355975268 | FGFR3 | c.585C>A (p.Phe195Leu) c.573C>A (p.Phe191Leu) c.45C>A (p.Phe15Leu) n.841C>A n.860C>A | dbSNP gnomAD v4 |
4 | g.1801506C= | CA1433504846 | FGFR3 | c.585C= (p.Phe195=) c.573C= (p.Phe191=) c.45C= (p.Phe15=) n.841C= n.860C= | |
4 | g.1801506C>G | CA91249187 | FGFR3 | c.585C>G (p.Phe195Leu) c.573C>G (p.Phe191Leu) c.45C>G (p.Phe15Leu) n.841C>G n.860C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801506C>T | CA438062821 | FGFR3 | c.585C>T (p.Phe195=) c.573C>T (p.Phe191=) c.45C>T (p.Phe15=) n.841C>T n.860C>T | gnomAD v4 |
4 | g.1801507C>A | CA91249220 | FGFR3 | c.586C>A (p.Arg196Ser) c.574C>A (p.Arg192Ser) c.46C>A (p.Arg16Ser) n.842C>A n.861C>A | dbSNP gnomAD v4 |
4 | g.1801507C= | CA1433504847 | FGFR3 | c.586C= (p.Arg196=) c.574C= (p.Arg192=) c.46C= (p.Arg16=) n.842C= n.861C= | |
4 | g.1801507C>G | CA355975273 | FGFR3 | c.586C>G (p.Arg196Gly) c.574C>G (p.Arg192Gly) c.46C>G (p.Arg16Gly) n.842C>G n.861C>G | |
4 | g.1801507C>T | CA355975276 | FGFR3 | c.586C>T (p.Arg196Cys) c.574C>T (p.Arg192Cys) c.46C>T (p.Arg16Cys) n.842C>T n.861C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.1801508G>A | CA91249225 | FGFR3 | c.587G>A (p.Arg196His) c.575G>A (p.Arg192His) c.47G>A (p.Arg16His) n.843G>A n.862G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
4 | g.1801508G>C | CA355975280 | FGFR3 | c.587G>C (p.Arg196Pro) c.575G>C (p.Arg192Pro) c.47G>C (p.Arg16Pro) n.843G>C n.862G>C | |
4 | g.1801508G= | CA1433504848 | FGFR3 | c.587G= (p.Arg196=) c.575G= (p.Arg192=) c.47G= (p.Arg16=) n.843G= n.862G= | |
4 | g.1801508G>T | CA355975278 | FGFR3 | c.587G>T (p.Arg196Leu) c.575G>T (p.Arg192Leu) c.47G>T (p.Arg16Leu) n.843G>T n.862G>T | gnomAD v4 |
4 | g.1801509C>A | CA438062822 | FGFR3 | c.588C>A (p.Arg196=) c.576C>A (p.Arg192=) c.48C>A (p.Arg16=) n.844C>A n.863C>A | gnomAD v4 |
4 | g.1801509C= | CA1433504849 | FGFR3 | c.588C= (p.Arg196=) c.576C= (p.Arg192=) c.48C= (p.Arg16=) n.844C= n.863C= | |
4 | g.1801509C>G | CA438062823 | FGFR3 | c.588C>G (p.Arg196=) c.576C>G (p.Arg192=) c.48C>G (p.Arg16=) n.844C>G n.863C>G | dbSNP |
4 | g.1801509C>T | CA202984 | FGFR3 | c.588C>T (p.Arg196=) c.576C>T (p.Arg192=) c.48C>T (p.Arg16=) n.844C>T n.863C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.1801510G>A | CA2809871 | FGFR3 | c.589G>A (p.Gly197Ser) c.577G>A (p.Gly193Ser) c.49G>A (p.Gly17Ser) n.845G>A n.864G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801510G>C | CA355975284 | FGFR3 | c.589G>C (p.Gly197Arg) c.577G>C (p.Gly193Arg) c.49G>C (p.Gly17Arg) n.845G>C n.864G>C | |
4 | g.1801510G= | CA1433504850 | FGFR3 | c.589G= (p.Gly197=) c.577G= (p.Gly193=) c.49G= (p.Gly17=) n.845G= n.864G= | |
4 | g.1801510G>T | CA355975286 | FGFR3 | c.589G>T (p.Gly197Cys) c.577G>T (p.Gly193Cys) c.49G>T (p.Gly17Cys) n.845G>T n.864G>T | gnomAD v4 |
4 | g.1801511G>A | CA355975288 | FGFR3 | c.590G>A (p.Gly197Asp) c.578G>A (p.Gly193Asp) c.50G>A (p.Gly17Asp) n.846G>A n.865G>A | gnomAD v4 |
4 | g.1801511G>C | CA355975290 | FGFR3 | c.590G>C (p.Gly197Ala) c.578G>C (p.Gly193Ala) c.50G>C (p.Gly17Ala) n.846G>C n.865G>C | |
4 | g.1801511G>T | CA355975291 | FGFR3 | c.590G>T (p.Gly197Val) c.578G>T (p.Gly193Val) c.50G>T (p.Gly17Val) n.846G>T n.865G>T | |
4 | g.1801512del | CA2669560530 | FGFR3 | c.591del (p.Glu198SerfsTer?) c.579del (p.Glu194SerfsTer?) c.51del (p.Glu18SerfsTer?) n.847del n.866del | gnomAD v4 |
4 | g.1801512C>A | CA438062825 | FGFR3 | c.591C>A (p.Gly197=) c.579C>A (p.Gly193=) c.51C>A (p.Gly17=) n.847C>A n.866C>A | gnomAD v4 |
4 | g.1801512C= | CA1433504851 | FGFR3 | c.591C= (p.Gly197=) c.579C= (p.Gly193=) c.51C= (p.Gly17=) n.847C= n.866C= | |
4 | g.1801512C>G | CA438062824 | FGFR3 | c.591C>G (p.Gly197=) c.579C>G (p.Gly193=) c.51C>G (p.Gly17=) n.847C>G n.866C>G | dbSNP |
4 | g.1801512C>T | CA91249251 | FGFR3 | c.591C>T (p.Gly197=) c.579C>T (p.Gly193=) c.51C>T (p.Gly17=) n.847C>T n.866C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801513G>A | CA355975292 | FGFR3 | c.592G>A (p.Glu198Lys) c.580G>A (p.Glu194Lys) c.52G>A (p.Glu18Lys) n.848G>A n.867G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.1801513G>C | CA355975296 | FGFR3 | c.592G>C (p.Glu198Gln) c.580G>C (p.Glu194Gln) c.52G>C (p.Glu18Gln) n.848G>C n.867G>C | gnomAD v4 |
4 | g.1801513G= | CA1433504852 | FGFR3 | c.592G= (p.Glu198=) c.580G= (p.Glu194=) c.52G= (p.Glu18=) n.848G= n.867G= | |
4 | g.1801513G>T | CA355975294 | FGFR3 | c.592G>T (p.Glu198Ter) c.580G>T (p.Glu194Ter) c.52G>T (p.Glu18Ter) n.848G>T n.867G>T | gnomAD v4 |
4 | g.1801514A>C | CA355975299 | FGFR3 | c.593A>C (p.Glu198Ala) c.581A>C (p.Glu194Ala) c.53A>C (p.Glu18Ala) n.849A>C n.868A>C | |
4 | g.1801514A>G | CA355975301 | FGFR3 | c.593A>G (p.Glu198Gly) c.581A>G (p.Glu194Gly) c.53A>G (p.Glu18Gly) n.849A>G n.868A>G | |
4 | g.1801514A>T | CA355975302 | FGFR3 | c.593A>T (p.Glu198Val) c.581A>T (p.Glu194Val) c.53A>T (p.Glu18Val) n.849A>T n.868A>T | |
4 | g.1801515G>A | CA438062826 | FGFR3 | c.594G>A (p.Glu198=) c.582G>A (p.Glu194=) c.54G>A (p.Glu18=) n.850G>A n.869G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801515G>C | CA355975304 | FGFR3 | c.594G>C (p.Glu198Asp) c.582G>C (p.Glu194Asp) c.54G>C (p.Glu18Asp) n.850G>C n.869G>C | |
4 | g.1801515G= | CA1433504853 | FGFR3 | c.594G= (p.Glu198=) c.582G= (p.Glu194=) c.54G= (p.Glu18=) n.850G= n.869G= | |
4 | g.1801515G>T | CA355975306 | FGFR3 | c.594G>T (p.Glu198Asp) c.582G>T (p.Glu194Asp) c.54G>T (p.Glu18Asp) n.850G>T n.869G>T | |
4 | g.1801516C>A | CA355975307 | FGFR3 | c.595C>A (p.His199Asn) c.583C>A (p.His195Asn) c.55C>A (p.His19Asn) n.851C>A n.870C>A | dbSNP gnomAD v4 |
4 | g.1801516C= | CA1433504854 | FGFR3 | c.595C= (p.His199=) c.583C= (p.His195=) c.55C= (p.His19=) n.851C= n.870C= | |
4 | g.1801516C>G | CA355975310 | FGFR3 | c.595C>G (p.His199Asp) c.583C>G (p.His195Asp) c.55C>G (p.His19Asp) n.851C>G n.870C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801516C>T | CA355975308 | FGFR3 | c.595C>T (p.His199Tyr) c.583C>T (p.His195Tyr) c.55C>T (p.His19Tyr) n.851C>T n.870C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801517A>C | CA355975312 | FGFR3 | c.596A>C (p.His199Pro) c.584A>C (p.His195Pro) c.56A>C (p.His19Pro) n.852A>C n.871A>C | |
4 | g.1801517A>G | CA355975314 | FGFR3 | c.596A>G (p.His199Arg) c.584A>G (p.His195Arg) c.56A>G (p.His19Arg) n.852A>G n.871A>G | |
4 | g.1801517A>T | CA355975315 | FGFR3 | c.596A>T (p.His199Leu) c.584A>T (p.His195Leu) c.56A>T (p.His19Leu) n.852A>T n.871A>T | dbSNP |
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 |