Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.1801417_1801419del | CA2760148312 | FGFR3 | c.496_498del (p.Val166del) c.484_486del (p.Val162del) n.752_754del n.771_773del | |
4 | g.1801418T>A | CA355974938 | FGFR3 | c.497T>A (p.Val166Glu) c.485T>A (p.Val162Glu) n.753T>A n.772T>A | |
4 | g.1801418T>C | CA355974941 | FGFR3 | c.497T>C (p.Val166Ala) c.485T>C (p.Val162Ala) n.753T>C n.772T>C | |
4 | g.1801418T>G | CA355974939 | FGFR3 | c.497T>G (p.Val166Gly) c.485T>G (p.Val162Gly) n.753T>G n.772T>G | dbSNP |
4 | g.1801419G>A | CA438062761 | FGFR3 | c.498G>A (p.Val166=) c.486G>A (p.Val162=) n.754G>A n.773G>A | dbSNP gnomAD v4 |
4 | g.1801419G>C | CA438062763 | FGFR3 | c.498G>C (p.Val166=) c.486G>C (p.Val162=) n.754G>C n.773G>C | dbSNP |
4 | g.1801419G>T | CA438062762 | FGFR3 | c.498G>T (p.Val166=) c.486G>T (p.Val162=) n.754G>T n.773G>T | gnomAD v4 |
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= |