Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.1801625G>A | CA438063052 | FGFR3 | c.621G>A (p.Arg207=) c.609G>A (p.Arg203=) c.81G>A (p.Arg27=) n.877G>A n.896G>A | dbSNP gnomAD v4 |
4 | g.1801625G>C | CA438063053 | FGFR3 | c.621G>C (p.Arg207=) c.609G>C (p.Arg203=) c.81G>C (p.Arg27=) n.877G>C n.896G>C | |
4 | g.1801625G>T | CA438063056 | FGFR3 | c.621G>T (p.Arg207=) c.609G>T (p.Arg203=) c.81G>T (p.Arg27=) n.877G>T n.896G>T | gnomAD v4 |
4 | g.1801626C>A | CA355975435 | FGFR3 | c.622C>A (p.His208Asn) c.610C>A (p.His204Asn) c.82C>A (p.His28Asn) n.878C>A n.897C>A | dbSNP |
4 | g.1801626C= | CA1433504924 | FGFR3 | c.622C= (p.His208=) c.610C= (p.His204=) c.82C= (p.His28=) n.878C= n.897C= | |
4 | g.1801626C>G | CA355975437 | FGFR3 | c.622C>G (p.His208Asp) c.610C>G (p.His204Asp) c.82C>G (p.His28Asp) n.878C>G n.897C>G | |
4 | g.1801626C>T | CA2809905 | FGFR3 | c.622C>T (p.His208Tyr) c.610C>T (p.His204Tyr) c.82C>T (p.His28Tyr) n.878C>T n.897C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.1801627A= | CA1433504925 | FGFR3 | c.623A= (p.His208=) c.611A= (p.His204=) c.83A= (p.His28=) n.879A= n.898A= | |
4 | g.1801627A>C | CA355975439 | FGFR3 | c.623A>C (p.His208Pro) c.611A>C (p.His204Pro) c.83A>C (p.His28Pro) n.879A>C n.898A>C | |
4 | g.1801627A>G | CA355975440 | FGFR3 | c.623A>G (p.His208Arg) c.611A>G (p.His204Arg) c.83A>G (p.His28Arg) n.879A>G n.898A>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801627A>T | CA355975438 | FGFR3 | c.623A>T (p.His208Leu) c.611A>T (p.His204Leu) c.83A>T (p.His28Leu) n.879A>T n.898A>T | |
4 | g.1801628T>A | CA355975442 | FGFR3 | c.624T>A (p.His208Gln) c.612T>A (p.His204Gln) c.84T>A (p.His28Gln) n.880T>A n.899T>A | |
4 | g.1801628T>C | CA438063063 | FGFR3 | c.624T>C (p.His208=) c.612T>C (p.His204=) c.84T>C (p.His28=) n.880T>C n.899T>C | |
4 | g.1801628T>G | CA355975441 | FGFR3 | c.624T>G (p.His208Gln) c.612T>G (p.His204Gln) c.84T>G (p.His28Gln) n.880T>G n.899T>G | |
4 | g.1801629C>A | CA355975443 | FGFR3 | c.625C>A (p.Gln209Lys) c.613C>A (p.Gln205Lys) n.1C>A c.85C>A (p.Gln29Lys) n.881C>A n.900C>A | |
4 | g.1801629C>G | CA355975445 | FGFR3 | c.625C>G (p.Gln209Glu) c.613C>G (p.Gln205Glu) n.1C>G c.85C>G (p.Gln29Glu) n.881C>G n.900C>G | dbSNP |
4 | g.1801629C>T | CA355975447 | FGFR3 | c.625C>T (p.Gln209Ter) c.613C>T (p.Gln205Ter) n.1C>T c.85C>T (p.Gln29Ter) n.881C>T n.900C>T | dbSNP COSMIC COSMIC |
4 | g.1801630A>C | CA355975449 | FGFR3 | c.626A>C (p.Gln209Pro) c.614A>C (p.Gln205Pro) n.2A>C c.86A>C (p.Gln29Pro) n.882A>C n.901A>C | |
4 | g.1801630A>G | CA355975450 | FGFR3 | c.626A>G (p.Gln209Arg) c.614A>G (p.Gln205Arg) n.2A>G c.86A>G (p.Gln29Arg) n.882A>G n.901A>G | gnomAD v4 |
4 | g.1801630A>T | CA355975451 | FGFR3 | c.626A>T (p.Gln209Leu) c.614A>T (p.Gln205Leu) n.2A>T c.86A>T (p.Gln29Leu) n.882A>T n.901A>T | |
4 | g.1801631G>A | CA438063070 | FGFR3 | c.627G>A (p.Gln209=) c.615G>A (p.Gln205=) n.3G>A c.87G>A (p.Gln29=) n.883G>A n.902G>A | dbSNP |
4 | g.1801631G>C | CA355975452 | FGFR3 | c.627G>C (p.Gln209His) c.615G>C (p.Gln205His) n.3G>C c.87G>C (p.Gln29His) n.883G>C n.902G>C | |
4 | g.1801631G= | CA1433504926 | FGFR3 | c.627G= (p.Gln209=) c.615G= (p.Gln205=) n.3G= c.87G= (p.Gln29=) n.883G= n.902G= | |
4 | g.1801631G>T | CA355975453 | FGFR3 | c.627G>T (p.Gln209His) c.615G>T (p.Gln205His) n.3G>T c.87G>T (p.Gln29His) n.883G>T n.902G>T | gnomAD v4 COSMIC COSMIC |
4 | g.1801632C>A | CA355975454 | FGFR3 | c.628C>A (p.Gln210Lys) c.616C>A (p.Gln206Lys) n.4C>A c.88C>A (p.Gln30Lys) n.884C>A n.903C>A | gnomAD v4 |
4 | g.1801632C>G | CA355975455 | FGFR3 | c.628C>G (p.Gln210Glu) c.616C>G (p.Gln206Glu) n.4C>G c.88C>G (p.Gln30Glu) n.884C>G n.903C>G | |
4 | g.1801632C>T | CA355975456 | FGFR3 | c.628C>T (p.Gln210Ter) c.616C>T (p.Gln206Ter) n.4C>T c.88C>T (p.Gln30Ter) n.884C>T n.903C>T | dbSNP |
4 | g.1801633A= | CA1433504927 | FGFR3 | c.629A= (p.Gln210=) c.617A= (p.Gln206=) n.5A= c.89A= (p.Gln30=) n.885A= n.904A= | |
4 | g.1801633A>C | CA355975459 | FGFR3 | c.629A>C (p.Gln210Pro) c.617A>C (p.Gln206Pro) n.5A>C c.89A>C (p.Gln30Pro) n.885A>C n.904A>C | |
4 | g.1801633A>G | CA355975457 | FGFR3 | c.629A>G (p.Gln210Arg) c.617A>G (p.Gln206Arg) n.5A>G c.89A>G (p.Gln30Arg) n.885A>G n.904A>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.1801633A>T | CA355975458 | FGFR3 | c.629A>T (p.Gln210Leu) c.617A>T (p.Gln206Leu) n.5A>T c.89A>T (p.Gln30Leu) n.885A>T n.904A>T | |
4 | g.1801634G>A | CA2809906 | FGFR3 | c.630G>A (p.Gln210=) c.618G>A (p.Gln206=) n.6G>A c.90G>A (p.Gln30=) n.886G>A n.905G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801634G>C | CA355975460 | FGFR3 | c.630G>C (p.Gln210His) c.618G>C (p.Gln206His) n.6G>C c.90G>C (p.Gln30His) n.886G>C n.905G>C | gnomAD v4 |
4 | g.1801634G= | CA1433504928 | FGFR3 | c.630G= (p.Gln210=) c.618G= (p.Gln206=) n.6G= c.90G= (p.Gln30=) n.886G= n.905G= | |
4 | g.1801634G>T | CA355975461 | FGFR3 | c.630G>T (p.Gln210His) c.618G>T (p.Gln206His) n.6G>T c.90G>T (p.Gln30His) n.886G>T n.905G>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801635T>A | CA355975462 | FGFR3 | c.631T>A (p.Trp211Arg) c.619T>A (p.Trp207Arg) n.7T>A c.91T>A (p.Trp31Arg) n.887T>A n.906T>A | |
4 | g.1801635T>C | CA355975463 | FGFR3 | c.631T>C (p.Trp211Arg) c.619T>C (p.Trp207Arg) n.7T>C c.91T>C (p.Trp31Arg) n.887T>C n.906T>C | |
4 | g.1801635T>G | CA355975464 | FGFR3 | c.631T>G (p.Trp211Gly) c.619T>G (p.Trp207Gly) n.7T>G c.91T>G (p.Trp31Gly) n.887T>G n.906T>G | |
4 | g.1801636G>A | CA355975465 | FGFR3 | c.632G>A (p.Trp211Ter) c.620G>A (p.Trp207Ter) n.8G>A c.92G>A (p.Trp31Ter) n.888G>A n.907G>A | |
4 | g.1801636G>C | CA355975466 | FGFR3 | c.632G>C (p.Trp211Ser) c.620G>C (p.Trp207Ser) n.8G>C c.92G>C (p.Trp31Ser) n.888G>C n.907G>C | |
4 | g.1801636G>T | CA355975467 | FGFR3 | c.632G>T (p.Trp211Leu) c.620G>T (p.Trp207Leu) n.8G>T c.92G>T (p.Trp31Leu) n.888G>T n.907G>T | dbSNP gnomAD v4 |
4 | g.1801637G>A | CA2809907 | FGFR3 | c.633G>A (p.Trp211Ter) c.621G>A (p.Trp207Ter) n.9G>A c.93G>A (p.Trp31Ter) n.889G>A n.908G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801637G>C | CA355975468 | FGFR3 | c.633G>C (p.Trp211Cys) c.621G>C (p.Trp207Cys) n.9G>C c.93G>C (p.Trp31Cys) n.889G>C n.908G>C | |
4 | g.1801637G= | CA1433504929 | FGFR3 | c.633G= (p.Trp211=) c.621G= (p.Trp207=) n.9G= c.93G= (p.Trp31=) n.889G= n.908G= | |
4 | g.1801637G>T | CA355975469 | FGFR3 | c.633G>T (p.Trp211Cys) c.621G>T (p.Trp207Cys) n.9G>T c.93G>T (p.Trp31Cys) n.889G>T n.908G>T | |
4 | g.1801638A>C | CA355975471 | FGFR3 | c.634A>C (p.Ser212Arg) c.622A>C (p.Ser208Arg) n.10A>C c.94A>C (p.Ser32Arg) n.890A>C n.909A>C | |
4 | g.1801638A>G | CA355975472 | FGFR3 | c.634A>G (p.Ser212Gly) c.622A>G (p.Ser208Gly) n.10A>G c.94A>G (p.Ser32Gly) n.890A>G n.909A>G | |
4 | g.1801638A>T | CA355975470 | FGFR3 | c.634A>T (p.Ser212Cys) c.622A>T (p.Ser208Cys) n.10A>T c.94A>T (p.Ser32Cys) n.890A>T n.909A>T | |
4 | g.1801639G>A | CA355975473 | FGFR3 | c.635G>A (p.Ser212Asn) c.623G>A (p.Ser208Asn) n.11G>A c.95G>A (p.Ser32Asn) n.891G>A n.910G>A | |
4 | g.1801639G>C | CA355975474 | FGFR3 | c.635G>C (p.Ser212Thr) c.623G>C (p.Ser208Thr) n.11G>C c.95G>C (p.Ser32Thr) n.891G>C n.910G>C | |
4 | g.1801639G>T | CA355975475 | FGFR3 | c.635G>T (p.Ser212Ile) c.623G>T (p.Ser208Ile) n.11G>T c.95G>T (p.Ser32Ile) n.891G>T n.910G>T | |
4 | g.1801640C>A | CA355975476 | FGFR3 | c.636C>A (p.Ser212Arg) c.624C>A (p.Ser208Arg) n.12C>A c.96C>A (p.Ser32Arg) n.892C>A n.911C>A | |
4 | g.1801640C>G | CA355975477 | FGFR3 | c.636C>G (p.Ser212Arg) c.624C>G (p.Ser208Arg) n.12C>G c.96C>G (p.Ser32Arg) n.892C>G n.911C>G | |
4 | g.1801640C>T | CA438063091 | FGFR3 | c.636C>T (p.Ser212=) c.624C>T (p.Ser208=) n.12C>T c.96C>T (p.Ser32=) n.892C>T n.911C>T | |
4 | g.1801641C>A | CA355975478 | FGFR3 | c.637C>A (p.Leu213Met) c.625C>A (p.Leu209Met) n.13C>A c.97C>A (p.Leu33Met) n.893C>A n.912C>A | |
4 | g.1801641C= | CA1433504930 | FGFR3 | c.637C= (p.Leu213=) c.625C= (p.Leu209=) n.13C= c.97C= (p.Leu33=) n.893C= n.912C= | |
4 | g.1801641C>G | CA355975479 | FGFR3 | c.637C>G (p.Leu213Val) c.625C>G (p.Leu209Val) n.13C>G c.97C>G (p.Leu33Val) n.893C>G n.912C>G | gnomAD v4 |
4 | g.1801641C>T | CA438063092 | FGFR3 | c.637C>T (p.Leu213=) c.625C>T (p.Leu209=) n.13C>T c.97C>T (p.Leu33=) n.893C>T n.912C>T | dbSNP |
4 | g.1801642T>A | CA355975480 | FGFR3 | c.638T>A (p.Leu213Gln) c.626T>A (p.Leu209Gln) n.14T>A c.98T>A (p.Leu33Gln) n.894T>A n.913T>A | |
4 | g.1801642T>C | CA355975482 | FGFR3 | c.638T>C (p.Leu213Pro) c.626T>C (p.Leu209Pro) n.14T>C c.98T>C (p.Leu33Pro) n.894T>C n.913T>C | |
4 | g.1801642T>G | CA355975481 | FGFR3 | c.638T>G (p.Leu213Arg) c.626T>G (p.Leu209Arg) n.14T>G c.98T>G (p.Leu33Arg) n.894T>G n.913T>G | |
4 | g.1801643G>A | CA2809908 | FGFR3 | c.639G>A (p.Leu213=) c.627G>A (p.Leu209=) n.15G>A c.99G>A (p.Leu33=) n.895G>A n.914G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.1801643G>C | CA438063095 | FGFR3 | c.639G>C (p.Leu213=) c.627G>C (p.Leu209=) n.15G>C c.99G>C (p.Leu33=) n.895G>C n.914G>C | |
4 | g.1801643G= | CA1433504931 | FGFR3 | c.639G= (p.Leu213=) c.627G= (p.Leu209=) n.15G= c.99G= (p.Leu33=) n.895G= n.914G= | |
4 | g.1801643G>T | CA438063098 | FGFR3 | c.639G>T (p.Leu213=) c.627G>T (p.Leu209=) n.15G>T c.99G>T (p.Leu33=) n.895G>T n.914G>T | |
4 | g.1801644G>A | CA355975483 | FGFR3 | c.640G>A (p.Val214Ile) c.628G>A (p.Val210Ile) n.16G>A c.100G>A (p.Val34Ile) n.896G>A n.915G>A | |
4 | g.1801644G>C | CA355975484 | FGFR3 | c.640G>C (p.Val214Leu) c.628G>C (p.Val210Leu) n.16G>C c.100G>C (p.Val34Leu) n.896G>C n.915G>C | |
4 | g.1801644G>T | CA355975485 | FGFR3 | c.640G>T (p.Val214Phe) c.628G>T (p.Val210Phe) n.16G>T c.100G>T (p.Val34Phe) n.896G>T n.915G>T | |
4 | g.1801645T>A | CA355975486 | FGFR3 | c.641T>A (p.Val214Asp) c.629T>A (p.Val210Asp) n.17T>A c.101T>A (p.Val34Asp) n.897T>A n.916T>A | dbSNP |
4 | g.1801645T>C | CA355975488 | FGFR3 | c.641T>C (p.Val214Ala) c.629T>C (p.Val210Ala) n.17T>C c.101T>C (p.Val34Ala) n.897T>C n.916T>C | |
4 | g.1801645T>G | CA355975487 | FGFR3 | c.641T>G (p.Val214Gly) c.629T>G (p.Val210Gly) n.17T>G c.101T>G (p.Val34Gly) n.897T>G n.916T>G | |
4 | g.1801646C>A | CA438063103 | FGFR3 | c.642C>A (p.Val214=) c.630C>A (p.Val210=) n.18C>A c.102C>A (p.Val34=) n.898C>A n.917C>A | |
4 | g.1801646C>G | CA438063105 | FGFR3 | c.642C>G (p.Val214=) c.630C>G (p.Val210=) n.18C>G c.102C>G (p.Val34=) n.898C>G n.917C>G | dbSNP |
4 | g.1801646C>T | CA438063104 | FGFR3 | c.642C>T (p.Val214=) c.630C>T (p.Val210=) n.18C>T c.102C>T (p.Val34=) n.898C>T n.917C>T | gnomAD v4 |
4 | g.1801647A= | CA1433504932 | FGFR3 | c.643A= (p.Met215=) c.631A= (p.Met211=) n.19A= c.103A= (p.Met35=) n.899A= n.918A= | |
4 | g.1801647A>C | CA355975489 | FGFR3 | c.643A>C (p.Met215Leu) c.631A>C (p.Met211Leu) n.19A>C c.103A>C (p.Met35Leu) n.899A>C n.918A>C | |
4 | g.1801647A>G | CA355975490 | FGFR3 | c.643A>G (p.Met215Val) c.631A>G (p.Met211Val) n.19A>G c.103A>G (p.Met35Val) n.899A>G n.918A>G | |
4 | g.1801647A>T | CA355975491 | FGFR3 | c.643A>T (p.Met215Leu) c.631A>T (p.Met211Leu) n.19A>T c.103A>T (p.Met35Leu) n.899A>T n.918A>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801648T>A | CA355975492 | FGFR3 | c.644T>A (p.Met215Lys) c.632T>A (p.Met211Lys) n.20T>A c.104T>A (p.Met35Lys) n.900T>A n.919T>A | dbSNP |
4 | g.1801648T>C | CA355975493 | FGFR3 | c.644T>C (p.Met215Thr) c.632T>C (p.Met211Thr) n.20T>C c.104T>C (p.Met35Thr) n.900T>C n.919T>C | |
4 | g.1801648T>G | CA355975494 | FGFR3 | c.644T>G (p.Met215Arg) c.632T>G (p.Met211Arg) n.20T>G c.104T>G (p.Met35Arg) n.900T>G n.919T>G | |
4 | g.1801649G>A | CA355975495 | FGFR3 | c.645G>A (p.Met215Ile) c.633G>A (p.Met211Ile) n.21G>A c.105G>A (p.Met35Ile) n.901G>A n.920G>A | |
4 | g.1801649G>C | CA355975496 | FGFR3 | c.645G>C (p.Met215Ile) c.633G>C (p.Met211Ile) n.21G>C c.105G>C (p.Met35Ile) n.901G>C n.920G>C | |
4 | g.1801649G>T | CA355975497 | FGFR3 | c.645G>T (p.Met215Ile) c.633G>T (p.Met211Ile) n.21G>T c.105G>T (p.Met35Ile) n.901G>T n.920G>T | gnomAD v4 |
4 | g.1801650G>A | CA355975498 | FGFR3 | c.646G>A (p.Glu216Lys) c.634G>A (p.Glu212Lys) n.22G>A c.106G>A (p.Glu36Lys) n.902G>A n.921G>A | gnomAD v4 COSMIC COSMIC |
4 | g.1801650G>C | CA355975499 | FGFR3 | c.646G>C (p.Glu216Gln) c.634G>C (p.Glu212Gln) n.22G>C c.106G>C (p.Glu36Gln) n.902G>C n.921G>C | |
4 | g.1801650G>T | CA355975500 | FGFR3 | c.646G>T (p.Glu216Ter) c.634G>T (p.Glu212Ter) n.22G>T c.106G>T (p.Glu36Ter) n.902G>T n.921G>T | |
4 | g.1801650_1801651delinsGA | CA1433504933 | FGFR3 | c.646_647delinsGA (p.Glu216=) c.634_635delinsGA (p.Glu212=) n.22_23delinsGA c.106_107delinsGA (p.Glu36=) n.902_903delinsGA n.921_922delinsGA | |
4 | g.1801651A= | CA1433504934 | FGFR3 | c.647A= (p.Glu216=) c.635A= (p.Glu212=) n.23A= c.107A= (p.Glu36=) n.903A= n.922A= | |
4 | g.1801651A>C | CA355975502 | FGFR3 | c.647A>C (p.Glu216Ala) c.635A>C (p.Glu212Ala) n.23A>C c.107A>C (p.Glu36Ala) n.903A>C n.922A>C | |
4 | g.1801651A>G | CA2809909 | FGFR3 | c.647A>G (p.Glu216Gly) c.635A>G (p.Glu212Gly) n.23A>G c.107A>G (p.Glu36Gly) n.903A>G n.922A>G | dbSNP ExAC gnomAD v2 |
4 | g.1801651A>T | CA355975501 | FGFR3 | c.647A>T (p.Glu216Val) c.635A>T (p.Glu212Val) n.23A>T c.107A>T (p.Glu36Val) n.903A>T n.922A>T | |
4 | g.1801653del | CA1058526247 | FGFR3 | c.649del (p.Ser217AlafsTer?) c.637del (p.Ser213AlafsTer?) n.25del c.109del (p.Ser37AlafsTer?) n.905del n.924del | dbSNP gnomAD v3 gnomAD v4 |
4 | g.1801652A>C | CA355975503 | FGFR3 | c.648A>C (p.Glu216Asp) c.636A>C (p.Glu212Asp) n.24A>C c.108A>C (p.Glu36Asp) n.904A>C n.923A>C | |
4 | g.1801652A>G | CA438063114 | FGFR3 | c.648A>G (p.Glu216=) c.636A>G (p.Glu212=) n.24A>G c.108A>G (p.Glu36=) n.904A>G n.923A>G | |
4 | g.1801652A>T | CA355975504 | FGFR3 | c.648A>T (p.Glu216Asp) c.636A>T (p.Glu212Asp) n.24A>T c.108A>T (p.Glu36Asp) n.904A>T n.923A>T | |
4 | g.1801653A>C | CA355975505 | FGFR3 | c.649A>C (p.Ser217Arg) c.637A>C (p.Ser213Arg) n.25A>C c.109A>C (p.Ser37Arg) n.905A>C n.924A>C | |
4 | g.1801653A>G | CA355975506 | FGFR3 | c.649A>G (p.Ser217Gly) c.637A>G (p.Ser213Gly) n.25A>G c.109A>G (p.Ser37Gly) n.905A>G n.924A>G | |
4 | g.1801653A>T | CA355975507 | FGFR3 | c.649A>T (p.Ser217Cys) c.637A>T (p.Ser213Cys) n.25A>T c.109A>T (p.Ser37Cys) n.905A>T n.924A>T | |
4 | g.1801654G>A | CA355975508 | FGFR3 | c.650G>A (p.Ser217Asn) c.638G>A (p.Ser213Asn) n.26G>A c.110G>A (p.Ser37Asn) n.906G>A n.925G>A | |
4 | g.1801654G>C | CA355975509 | FGFR3 | c.650G>C (p.Ser217Thr) c.638G>C (p.Ser213Thr) n.26G>C c.110G>C (p.Ser37Thr) n.906G>C n.925G>C | |
4 | g.1801654G>T | CA355975510 | FGFR3 | c.650G>T (p.Ser217Ile) c.638G>T (p.Ser213Ile) n.26G>T c.110G>T (p.Ser37Ile) n.906G>T n.925G>T | |
4 | g.1801655C>A | CA355975511 | FGFR3 | c.651C>A (p.Ser217Arg) c.639C>A (p.Ser213Arg) n.27C>A c.111C>A (p.Ser37Arg) n.907C>A n.926C>A | dbSNP |
4 | g.1801655C= | CA1433504935 | FGFR3 | c.651C= (p.Ser217=) c.639C= (p.Ser213=) n.27C= c.111C= (p.Ser37=) n.907C= n.926C= | |
4 | g.1801655C>G | CA355975512 | FGFR3 | c.651C>G (p.Ser217Arg) c.639C>G (p.Ser213Arg) n.27C>G c.111C>G (p.Ser37Arg) n.907C>G n.926C>G | dbSNP |
4 | g.1801655C>T | CA2809910 | FGFR3 | c.651C>T (p.Ser217=) c.639C>T (p.Ser213=) n.27C>T c.111C>T (p.Ser37=) n.907C>T n.926C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801656G>A | CA355975513 | FGFR3 | c.652G>A (p.Val218Met) c.640G>A (p.Val214Met) n.28G>A c.112G>A (p.Val38Met) n.908G>A n.927G>A | gnomAD v4 |
4 | g.1801656G>C | CA355975514 | FGFR3 | c.652G>C (p.Val218Leu) c.640G>C (p.Val214Leu) n.28G>C c.112G>C (p.Val38Leu) n.908G>C n.927G>C | |
4 | g.1801656G>T | CA355975515 | FGFR3 | c.652G>T (p.Val218Leu) c.640G>T (p.Val214Leu) n.28G>T c.112G>T (p.Val38Leu) n.908G>T n.927G>T | gnomAD v4 |
4 | g.1801657T>A | CA355975517 | FGFR3 | c.653T>A (p.Val218Glu) c.641T>A (p.Val214Glu) n.29T>A c.113T>A (p.Val38Glu) n.909T>A n.928T>A | |
4 | g.1801657T>C | CA2809911 | FGFR3 | c.653T>C (p.Val218Ala) c.641T>C (p.Val214Ala) n.29T>C c.113T>C (p.Val38Ala) n.909T>C n.928T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801657T>G | CA355975516 | FGFR3 | c.653T>G (p.Val218Gly) c.641T>G (p.Val214Gly) n.29T>G c.113T>G (p.Val38Gly) n.909T>G n.928T>G | dbSNP |
4 | g.1801657T= | CA1433504936 | FGFR3 | c.653T= (p.Val218=) c.641T= (p.Val214=) n.29T= c.113T= (p.Val38=) n.909T= n.928T= | |
4 | g.1801658G>A | CA438063123 | FGFR3 | c.654G>A (p.Val218=) c.642G>A (p.Val214=) n.30G>A c.114G>A (p.Val38=) n.910G>A n.929G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801658G>C | CA2809912 | FGFR3 | c.654G>C (p.Val218=) c.642G>C (p.Val214=) n.30G>C c.114G>C (p.Val38=) n.910G>C n.929G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801658G= | CA1433504937 | FGFR3 | c.654G= (p.Val218=) c.642G= (p.Val214=) n.30G= c.114G= (p.Val38=) n.910G= n.929G= | |
4 | g.1801658G>T | CA438063124 | FGFR3 | c.654G>T (p.Val218=) c.642G>T (p.Val214=) n.30G>T c.114G>T (p.Val38=) n.910G>T n.929G>T | |
4 | g.1801659G>A | CA355975518 | FGFR3 | c.655G>A (p.Val219Met) c.643G>A (p.Val215Met) n.31G>A c.115G>A (p.Val39Met) n.911G>A n.930G>A | dbSNP |
4 | g.1801659G>C | CA355975519 | FGFR3 | c.655G>C (p.Val219Leu) c.643G>C (p.Val215Leu) n.31G>C c.115G>C (p.Val39Leu) n.911G>C n.930G>C | |
4 | g.1801659G>T | CA355975520 | FGFR3 | c.655G>T (p.Val219Leu) c.643G>T (p.Val215Leu) n.31G>T c.115G>T (p.Val39Leu) n.911G>T n.930G>T | |
4 | g.1801660T>A | CA355975521 | FGFR3 | c.656T>A (p.Val219Glu) c.644T>A (p.Val215Glu) n.32T>A c.116T>A (p.Val39Glu) n.912T>A n.931T>A | dbSNP |
4 | g.1801660T>C | CA355975522 | FGFR3 | c.656T>C (p.Val219Ala) c.644T>C (p.Val215Ala) n.32T>C c.116T>C (p.Val39Ala) n.912T>C n.931T>C | |
4 | g.1801660T>G | CA355975523 | FGFR3 | c.656T>G (p.Val219Gly) c.644T>G (p.Val215Gly) n.32T>G c.116T>G (p.Val39Gly) n.912T>G n.931T>G | dbSNP |
4 | g.1801661G>A | CA438063128 | FGFR3 | c.657G>A (p.Val219=) c.645G>A (p.Val215=) n.33G>A c.117G>A (p.Val39=) n.913G>A n.932G>A | |
4 | g.1801661G>C | CA438063130 | FGFR3 | c.657G>C (p.Val219=) c.645G>C (p.Val215=) n.33G>C c.117G>C (p.Val39=) n.913G>C n.932G>C | |
4 | g.1801661G>T | CA438063131 | FGFR3 | c.657G>T (p.Val219=) c.645G>T (p.Val215=) n.33G>T c.117G>T (p.Val39=) n.913G>T n.932G>T | gnomAD v4 |
4 | g.1801662C>A | CA355975524 | FGFR3 | c.658C>A (p.Pro220Thr) c.646C>A (p.Pro216Thr) n.34C>A c.118C>A (p.Pro40Thr) n.914C>A n.933C>A | |
4 | g.1801662C>G | CA355975525 | FGFR3 | c.658C>G (p.Pro220Ala) c.646C>G (p.Pro216Ala) n.34C>G c.118C>G (p.Pro40Ala) n.914C>G n.933C>G | dbSNP |
4 | g.1801662C>T | CA355975526 | FGFR3 | c.658C>T (p.Pro220Ser) c.646C>T (p.Pro216Ser) n.34C>T c.118C>T (p.Pro40Ser) n.914C>T n.933C>T | dbSNP gnomAD v4 |
4 | g.1801663C>A | CA355975527 | FGFR3 | c.659C>A (p.Pro220His) c.647C>A (p.Pro216His) n.35C>A c.119C>A (p.Pro40His) n.915C>A n.934C>A | |
4 | g.1801663C>G | CA355975528 | FGFR3 | c.659C>G (p.Pro220Arg) c.647C>G (p.Pro216Arg) n.35C>G c.119C>G (p.Pro40Arg) n.915C>G n.934C>G | dbSNP |
4 | g.1801663C>T | CA355975529 | FGFR3 | c.659C>T (p.Pro220Leu) c.647C>T (p.Pro216Leu) n.35C>T c.119C>T (p.Pro40Leu) n.915C>T n.934C>T | gnomAD v4 |
4 | g.1801664C>A | CA2809913 | FGFR3 | c.660C>A (p.Pro220=) c.648C>A (p.Pro216=) n.36C>A c.120C>A (p.Pro40=) n.916C>A n.935C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801664C= | CA1433504938 | FGFR3 | c.660C= (p.Pro220=) c.648C= (p.Pro216=) n.36C= c.120C= (p.Pro40=) n.916C= n.935C= | |
4 | g.1801664C>G | CA438063133 | FGFR3 | c.660C>G (p.Pro220=) c.648C>G (p.Pro216=) n.36C>G c.120C>G (p.Pro40=) n.916C>G n.935C>G | |
4 | g.1801664C>T | CA2809914 | FGFR3 | c.660C>T (p.Pro220=) c.648C>T (p.Pro216=) n.36C>T c.120C>T (p.Pro40=) n.916C>T n.935C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.1801665T>A | CA355975530 | FGFR3 | c.661T>A (p.Ser221Thr) c.649T>A (p.Ser217Thr) n.37T>A c.121T>A (p.Ser41Thr) n.917T>A n.936T>A | |
4 | g.1801665T>C | CA355975531 | FGFR3 | c.661T>C (p.Ser221Pro) c.649T>C (p.Ser217Pro) n.37T>C c.121T>C (p.Ser41Pro) n.917T>C n.936T>C | |
4 | g.1801665T>G | CA355975532 | FGFR3 | c.661T>G (p.Ser221Ala) c.649T>G (p.Ser217Ala) n.37T>G c.121T>G (p.Ser41Ala) n.917T>G n.936T>G | |
4 | g.1801666C>A | CA355975533 | FGFR3 | c.662C>A (p.Ser221Ter) c.650C>A (p.Ser217Ter) n.38C>A c.122C>A (p.Ser41Ter) n.918C>A n.937C>A | |
4 | g.1801666C= | CA1433504939 | FGFR3 | c.662C= (p.Ser221=) c.650C= (p.Ser217=) n.38C= c.122C= (p.Ser41=) n.918C= n.937C= | |
4 | g.1801666C>G | CA355975534 | FGFR3 | c.662C>G (p.Ser221Trp) c.650C>G (p.Ser217Trp) n.38C>G c.122C>G (p.Ser41Trp) n.918C>G n.937C>G | gnomAD v4 |
4 | g.1801666C>T | CA2809915 | FGFR3 | c.662C>T (p.Ser221Leu) c.650C>T (p.Ser217Leu) n.38C>T c.122C>T (p.Ser41Leu) n.918C>T n.937C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801667G>A | CA2809916 | FGFR3 | c.663G>A (p.Ser221=) c.651G>A (p.Ser217=) n.39G>A c.123G>A (p.Ser41=) n.919G>A n.938G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801667G>C | CA438063141 | FGFR3 | c.663G>C (p.Ser221=) c.651G>C (p.Ser217=) n.39G>C c.123G>C (p.Ser41=) n.919G>C n.938G>C | |
4 | g.1801667G= | CA1433504940 | FGFR3 | c.663G= (p.Ser221=) c.651G= (p.Ser217=) n.39G= c.123G= (p.Ser41=) n.919G= n.938G= | |
4 | g.1801667G>T | CA438063142 | FGFR3 | c.663G>T (p.Ser221=) c.651G>T (p.Ser217=) n.39G>T c.123G>T (p.Ser41=) n.919G>T n.938G>T | gnomAD v4 |
4 | g.1801668G>A | CA355975535 | FGFR3 | c.664G>A (p.Asp222Asn) c.652G>A (p.Asp218Asn) n.40G>A c.124G>A (p.Asp42Asn) n.920G>A n.939G>A | dbSNP COSMIC COSMIC |
4 | g.1801668G>C | CA355975536 | FGFR3 | c.664G>C (p.Asp222His) c.652G>C (p.Asp218His) n.40G>C c.124G>C (p.Asp42His) n.920G>C n.939G>C | dbSNP |
4 | g.1801668G>T | CA355975537 | FGFR3 | c.664G>T (p.Asp222Tyr) c.652G>T (p.Asp218Tyr) n.40G>T c.124G>T (p.Asp42Tyr) n.920G>T n.939G>T | |
4 | g.1801669A>C | CA355975538 | FGFR3 | c.665A>C (p.Asp222Ala) c.653A>C (p.Asp218Ala) n.41A>C c.125A>C (p.Asp42Ala) n.921A>C n.940A>C | |
4 | g.1801669A>G | CA355975539 | FGFR3 | c.665A>G (p.Asp222Gly) c.653A>G (p.Asp218Gly) n.41A>G c.125A>G (p.Asp42Gly) n.921A>G n.940A>G | dbSNP |
4 | g.1801669A>T | CA355975540 | FGFR3 | c.665A>T (p.Asp222Val) c.653A>T (p.Asp218Val) n.41A>T c.125A>T (p.Asp42Val) n.921A>T n.940A>T | dbSNP |
4 | g.1801670C>A | CA355975542 | FGFR3 | c.666C>A (p.Asp222Glu) c.654C>A (p.Asp218Glu) n.42C>A c.126C>A (p.Asp42Glu) n.922C>A n.941C>A | |
4 | g.1801670C= | CA1433504941 | FGFR3 | c.666C= (p.Asp222=) c.654C= (p.Asp218=) n.42C= c.126C= (p.Asp42=) n.922C= n.941C= | |
4 | g.1801670C>G | CA355975541 | FGFR3 | c.666C>G (p.Asp222Glu) c.654C>G (p.Asp218Glu) n.42C>G c.126C>G (p.Asp42Glu) n.922C>G n.941C>G | dbSNP |
4 | g.1801670C>T | CA2809917 | FGFR3 | c.666C>T (p.Asp222=) c.654C>T (p.Asp218=) n.42C>T c.126C>T (p.Asp42=) n.922C>T n.941C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801671C>A | CA355975543 | FGFR3 | c.667C>A (p.Arg223Ser) c.655C>A (p.Arg219Ser) n.43C>A c.127C>A (p.Arg43Ser) n.923C>A n.942C>A | |
4 | g.1801671C= | CA1433504942 | FGFR3 | c.667C= (p.Arg223=) c.655C= (p.Arg219=) n.43C= c.127C= (p.Arg43=) n.923C= n.942C= | |
4 | g.1801671C>G | CA355975544 | FGFR3 | c.667C>G (p.Arg223Gly) c.655C>G (p.Arg219Gly) n.43C>G c.127C>G (p.Arg43Gly) n.923C>G n.942C>G | |
4 | g.1801671C>T | CA355975545 | FGFR3 | c.667C>T (p.Arg223Cys) c.655C>T (p.Arg219Cys) n.43C>T c.127C>T (p.Arg43Cys) n.923C>T n.942C>T | ClinVar dbSNP gnomAD v4 |
4 | g.1801672G>A | CA91249476 | FGFR3 | c.668G>A (p.Arg223His) c.656G>A (p.Arg219His) n.44G>A c.128G>A (p.Arg43His) n.924G>A n.943G>A | dbSNP gnomAD v4 |
4 | g.1801672G>C | CA355975546 | FGFR3 | c.668G>C (p.Arg223Pro) c.656G>C (p.Arg219Pro) n.44G>C c.128G>C (p.Arg43Pro) n.924G>C n.943G>C | dbSNP |
4 | g.1801672G= | CA1433504943 | FGFR3 | c.668G= (p.Arg223=) c.656G= (p.Arg219=) n.44G= c.128G= (p.Arg43=) n.924G= n.943G= | |
4 | g.1801672G>T | CA355975547 | FGFR3 | c.668G>T (p.Arg223Leu) c.656G>T (p.Arg219Leu) n.44G>T c.128G>T (p.Arg43Leu) n.924G>T n.943G>T | |
4 | g.1801673C>A | CA91249478 | FGFR3 | c.669C>A (p.Arg223=) c.657C>A (p.Arg219=) n.45C>A c.129C>A (p.Arg43=) n.925C>A n.944C>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801673C= | CA1433504944 | FGFR3 | c.669C= (p.Arg223=) c.657C= (p.Arg219=) n.45C= c.129C= (p.Arg43=) n.925C= n.944C= | |
4 | g.1801673C>G | CA438063152 | FGFR3 | c.669C>G (p.Arg223=) c.657C>G (p.Arg219=) n.45C>G c.129C>G (p.Arg43=) n.925C>G n.944C>G | |
4 | g.1801673C>T | CA2809918 | FGFR3 | c.669C>T (p.Arg223=) c.657C>T (p.Arg219=) n.45C>T c.129C>T (p.Arg43=) n.925C>T n.944C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801674G>A | CA355975548 | FGFR3 | c.670G>A (p.Gly224Ser) c.658G>A (p.Gly220Ser) n.46G>A c.130G>A (p.Gly44Ser) n.926G>A n.945G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801674G>C | CA355975549 | FGFR3 | c.670G>C (p.Gly224Arg) c.658G>C (p.Gly220Arg) n.46G>C c.130G>C (p.Gly44Arg) n.926G>C n.945G>C | |
4 | g.1801674G= | CA1433504945 | FGFR3 | c.670G= (p.Gly224=) c.658G= (p.Gly220=) n.46G= c.130G= (p.Gly44=) n.926G= n.945G= | |
4 | g.1801674G>T | CA355975550 | FGFR3 | c.670G>T (p.Gly224Cys) c.658G>T (p.Gly220Cys) n.46G>T c.130G>T (p.Gly44Cys) n.926G>T n.945G>T | gnomAD v4 |
4 | g.1801675G>A | CA355975551 | FGFR3 | c.671G>A (p.Gly224Asp) c.659G>A (p.Gly220Asp) n.47G>A c.131G>A (p.Gly44Asp) n.927G>A n.946G>A | dbSNP |
4 | g.1801675G>C | CA355975552 | FGFR3 | c.671G>C (p.Gly224Ala) c.659G>C (p.Gly220Ala) n.47G>C c.131G>C (p.Gly44Ala) n.927G>C n.946G>C | |
4 | g.1801675G>T | CA355975553 | FGFR3 | c.671G>T (p.Gly224Val) c.659G>T (p.Gly220Val) n.47G>T c.131G>T (p.Gly44Val) n.927G>T n.946G>T | |
4 | g.1801676C>A | CA438063162 | FGFR3 | c.672C>A (p.Gly224=) c.660C>A (p.Gly220=) n.48C>A c.132C>A (p.Gly44=) n.928C>A n.947C>A | dbSNP gnomAD v2 |
4 | g.1801676C= | CA1433504946 | FGFR3 | c.672C= (p.Gly224=) c.660C= (p.Gly220=) n.48C= c.132C= (p.Gly44=) n.928C= n.947C= | |
4 | g.1801676C>G | CA438063161 | FGFR3 | c.672C>G (p.Gly224=) c.660C>G (p.Gly220=) n.48C>G c.132C>G (p.Gly44=) n.928C>G n.947C>G | |
4 | g.1801676C>T | CA2809919 | FGFR3 | c.672C>T (p.Gly224=) c.660C>T (p.Gly220=) n.48C>T c.132C>T (p.Gly44=) n.928C>T n.947C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.1801677A>C | CA355975555 | FGFR3 | c.673A>C (p.Asn225His) c.661A>C (p.Asn221His) n.49A>C c.133A>C (p.Asn45His) n.929A>C n.948A>C | |
4 | g.1801677A>G | CA355975556 | FGFR3 | c.673A>G (p.Asn225Asp) c.661A>G (p.Asn221Asp) n.49A>G c.133A>G (p.Asn45Asp) n.929A>G n.948A>G | gnomAD v4 |
4 | g.1801677A>T | CA355975554 | FGFR3 | c.673A>T (p.Asn225Tyr) c.661A>T (p.Asn221Tyr) n.49A>T c.133A>T (p.Asn45Tyr) n.929A>T n.948A>T | |
4 | g.1801678A>C | CA355975557 | FGFR3 | c.674A>C (p.Asn225Thr) c.662A>C (p.Asn221Thr) n.50A>C c.134A>C (p.Asn45Thr) n.930A>C n.949A>C | dbSNP |
4 | g.1801678A>G | CA355975559 | FGFR3 | c.674A>G (p.Asn225Ser) c.662A>G (p.Asn221Ser) n.50A>G c.134A>G (p.Asn45Ser) n.930A>G n.949A>G | |
4 | g.1801678A>T | CA355975558 | FGFR3 | c.674A>T (p.Asn225Ile) c.662A>T (p.Asn221Ile) n.50A>T c.134A>T (p.Asn45Ile) n.930A>T n.949A>T | gnomAD v4 |
4 | g.1801679C>A | CA355975560 | FGFR3 | c.675C>A (p.Asn225Lys) c.663C>A (p.Asn221Lys) n.51C>A c.135C>A (p.Asn45Lys) n.931C>A n.950C>A | |
4 | g.1801679C>G | CA355975561 | FGFR3 | c.675C>G (p.Asn225Lys) c.663C>G (p.Asn221Lys) n.51C>G c.135C>G (p.Asn45Lys) n.931C>G n.950C>G | gnomAD v4 |
4 | g.1801679C>T | CA438063170 | FGFR3 | c.675C>T (p.Asn225=) c.663C>T (p.Asn221=) n.51C>T c.135C>T (p.Asn45=) n.931C>T n.950C>T | |
4 | g.1801680T>A | CA355975562 | FGFR3 | c.676T>A (p.Tyr226Asn) c.664T>A (p.Tyr222Asn) n.52T>A c.136T>A (p.Tyr46Asn) n.932T>A n.951T>A | COSMIC COSMIC |
4 | g.1801680T>C | CA355975563 | FGFR3 | c.676T>C (p.Tyr226His) c.664T>C (p.Tyr222His) n.52T>C c.136T>C (p.Tyr46His) n.932T>C n.951T>C | COSMIC |
4 | g.1801680T>G | CA355975564 | FGFR3 | c.676T>G (p.Tyr226Asp) c.664T>G (p.Tyr222Asp) n.52T>G c.136T>G (p.Tyr46Asp) n.932T>G n.951T>G | |
4 | g.1801681A>C | CA355975565 | FGFR3 | c.677A>C (p.Tyr226Ser) c.665A>C (p.Tyr222Ser) n.53A>C c.137A>C (p.Tyr46Ser) n.933A>C n.952A>C | dbSNP |
4 | g.1801681A>G | CA355975566 | FGFR3 | c.677A>G (p.Tyr226Cys) c.665A>G (p.Tyr222Cys) n.53A>G c.137A>G (p.Tyr46Cys) n.933A>G n.952A>G | |
4 | g.1801681A>T | CA355975567 | FGFR3 | c.677A>T (p.Tyr226Phe) c.665A>T (p.Tyr222Phe) n.53A>T c.137A>T (p.Tyr46Phe) n.933A>T n.952A>T | |
4 | g.1801682C>A | CA355975568 | FGFR3 | c.678C>A (p.Tyr226Ter) c.666C>A (p.Tyr222Ter) n.54C>A c.138C>A (p.Tyr46Ter) n.934C>A n.953C>A | |
4 | g.1801682C= | CA1433504947 | FGFR3 | c.678C= (p.Tyr226=) c.666C= (p.Tyr222=) n.54C= c.138C= (p.Tyr46=) n.934C= n.953C= | |
4 | g.1801682C>G | CA355975569 | FGFR3 | c.678C>G (p.Tyr226Ter) c.666C>G (p.Tyr222Ter) n.54C>G c.138C>G (p.Tyr46Ter) n.934C>G n.953C>G | |
4 | g.1801682C>T | CA203201 | FGFR3 | c.678C>T (p.Tyr226=) c.666C>T (p.Tyr222=) n.54C>T c.138C>T (p.Tyr46=) n.934C>T n.953C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.1801683A>C | CA355975572 | FGFR3 | c.679A>C (p.Thr227Pro) c.667A>C (p.Thr223Pro) n.55A>C c.139A>C (p.Thr47Pro) n.935A>C n.954A>C | dbSNP |
4 | g.1801683A>G | CA355975570 | FGFR3 | c.679A>G (p.Thr227Ala) c.667A>G (p.Thr223Ala) n.55A>G c.139A>G (p.Thr47Ala) n.935A>G n.954A>G | |
4 | g.1801683A>T | CA355975571 | FGFR3 | c.679A>T (p.Thr227Ser) c.667A>T (p.Thr223Ser) n.55A>T c.139A>T (p.Thr47Ser) n.935A>T n.954A>T | |
4 | g.1801684C>A | CA355975573 | FGFR3 | c.680C>A (p.Thr227Asn) c.668C>A (p.Thr223Asn) n.56C>A c.140C>A (p.Thr47Asn) n.936C>A n.955C>A | |
4 | g.1801684C>G | CA355975574 | FGFR3 | c.680C>G (p.Thr227Ser) c.668C>G (p.Thr223Ser) n.56C>G c.140C>G (p.Thr47Ser) n.936C>G n.955C>G | |
4 | g.1801684C>T | CA355975575 | FGFR3 | c.680C>T (p.Thr227Ile) c.668C>T (p.Thr223Ile) n.56C>T c.140C>T (p.Thr47Ile) n.936C>T n.955C>T | |
4 | g.1801685C>A | CA438063188 | FGFR3 | c.681C>A (p.Thr227=) c.669C>A (p.Thr223=) n.57C>A c.141C>A (p.Thr47=) n.937C>A n.956C>A | |
4 | g.1801685C= | CA1433504948 | FGFR3 | c.681C= (p.Thr227=) c.669C= (p.Thr223=) n.57C= c.141C= (p.Thr47=) n.937C= n.956C= | |
4 | g.1801685C>G | CA438063189 | FGFR3 | c.681C>G (p.Thr227=) c.669C>G (p.Thr223=) n.57C>G c.141C>G (p.Thr47=) n.937C>G n.956C>G | dbSNP gnomAD v4 |
4 | g.1801685C>T | CA2809920 | FGFR3 | c.681C>T (p.Thr227=) c.669C>T (p.Thr223=) n.57C>T c.141C>T (p.Thr47=) n.937C>T n.956C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801686T>A | CA355975576 | FGFR3 | c.682T>A (p.Cys228Ser) c.670T>A (p.Cys224Ser) n.58T>A c.142T>A (p.Cys48Ser) n.938T>A n.957T>A | |
4 | g.1801686T>C | CA355975577 | FGFR3 | c.682T>C (p.Cys228Arg) c.670T>C (p.Cys224Arg) n.58T>C c.142T>C (p.Cys48Arg) n.938T>C n.957T>C | COSMIC |
4 | g.1801686T>G | CA355975578 | FGFR3 | c.682T>G (p.Cys228Gly) c.670T>G (p.Cys224Gly) n.58T>G c.142T>G (p.Cys48Gly) n.938T>G n.957T>G | |
4 | g.1801687G>A | CA355975579 | FGFR3 | c.683G>A (p.Cys228Tyr) c.671G>A (p.Cys224Tyr) n.59G>A c.143G>A (p.Cys48Tyr) n.939G>A n.958G>A | |
4 | g.1801687G>C | CA355975580 | FGFR3 | c.683G>C (p.Cys228Ser) c.671G>C (p.Cys224Ser) n.59G>C c.143G>C (p.Cys48Ser) n.939G>C n.958G>C | |
4 | g.1801687G>T | CA355975581 | FGFR3 | c.683G>T (p.Cys228Phe) c.671G>T (p.Cys224Phe) n.59G>T c.143G>T (p.Cys48Phe) n.939G>T n.958G>T | gnomAD v4 |
4 | g.1801688C>A | CA355975582 | FGFR3 | c.684C>A (p.Cys228Ter) c.672C>A (p.Cys224Ter) n.60C>A c.144C>A (p.Cys48Ter) n.940C>A n.959C>A | |
4 | g.1801688C= | CA1433504949 | FGFR3 | c.684C= (p.Cys228=) c.672C= (p.Cys224=) n.60C= c.144C= (p.Cys48=) n.940C= n.959C= | |
4 | g.1801688C>G | CA355975583 | FGFR3 | c.684C>G (p.Cys228Trp) c.672C>G (p.Cys224Trp) n.60C>G c.144C>G (p.Cys48Trp) n.940C>G n.959C>G | gnomAD v4 |
4 | g.1801688C>T | CA2809921 | FGFR3 | c.684C>T (p.Cys228=) c.672C>T (p.Cys224=) n.60C>T c.144C>T (p.Cys48=) n.940C>T n.959C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801689G>A | CA2809922 | FGFR3 | c.685G>A (p.Val229Ile) c.673G>A (p.Val225Ile) n.61G>A c.145G>A (p.Val49Ile) n.941G>A n.960G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801689G>C | CA2809923 | FGFR3 | c.685G>C (p.Val229Leu) c.673G>C (p.Val225Leu) n.61G>C c.145G>C (p.Val49Leu) n.941G>C n.960G>C | dbSNP ExAC gnomAD v2 |
4 | g.1801689G= | CA1433504950 | FGFR3 | c.685G= (p.Val229=) c.673G= (p.Val225=) n.61G= c.145G= (p.Val49=) n.941G= n.960G= | |
4 | g.1801689G>T | CA355975584 | FGFR3 | c.685G>T (p.Val229Phe) c.673G>T (p.Val225Phe) n.61G>T c.145G>T (p.Val49Phe) n.941G>T n.960G>T | |
4 | g.1801690T>A | CA355975585 | FGFR3 | c.686T>A (p.Val229Asp) c.674T>A (p.Val225Asp) n.62T>A c.146T>A (p.Val49Asp) n.942T>A n.961T>A | dbSNP |
4 | g.1801690T>C | CA355975586 | FGFR3 | c.686T>C (p.Val229Ala) c.674T>C (p.Val225Ala) n.62T>C c.146T>C (p.Val49Ala) n.942T>C n.961T>C | |
4 | g.1801690T>G | CA355975587 | FGFR3 | c.686T>G (p.Val229Gly) c.674T>G (p.Val225Gly) n.62T>G c.146T>G (p.Val49Gly) n.942T>G n.961T>G | dbSNP |
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= | |
4 | g.1801705T>A | CA355975625 | FGFR3 | c.701T>A (p.Phe234Tyr) c.689T>A (p.Phe230Tyr) n.77T>A c.161T>A (p.Phe54Tyr) n.957T>A n.976T>A | |
4 | g.1801705T>C | CA355975629 | FGFR3 | c.701T>C (p.Phe234Ser) c.689T>C (p.Phe230Ser) n.77T>C c.161T>C (p.Phe54Ser) n.957T>C n.976T>C | gnomAD v4 |
4 | g.1801705T>G | CA355975627 | FGFR3 | c.701T>G (p.Phe234Cys) c.689T>G (p.Phe230Cys) n.77T>G c.161T>G (p.Phe54Cys) n.957T>G n.976T>G | |
4 | g.1801706T>A | CA355975630 | FGFR3 | c.702T>A (p.Phe234Leu) c.690T>A (p.Phe230Leu) n.78T>A c.162T>A (p.Phe54Leu) n.958T>A n.977T>A | |
4 | g.1801706T>C | CA438063254 | FGFR3 | c.702T>C (p.Phe234=) c.690T>C (p.Phe230=) n.78T>C c.162T>C (p.Phe54=) n.958T>C n.977T>C | |
4 | g.1801706T>G | CA355975632 | FGFR3 | c.702T>G (p.Phe234Leu) c.690T>G (p.Phe230Leu) n.78T>G c.162T>G (p.Phe54Leu) n.958T>G n.977T>G | |
4 | g.1801707G>A | CA355975634 | FGFR3 | c.703G>A (p.Gly235Ser) c.691G>A (p.Gly231Ser) n.79G>A c.163G>A (p.Gly55Ser) n.959G>A n.978G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801707G>C | CA355975635 | FGFR3 | c.703G>C (p.Gly235Arg) c.691G>C (p.Gly231Arg) n.79G>C c.163G>C (p.Gly55Arg) n.959G>C n.978G>C | |
4 | g.1801707G= | CA1433504958 | FGFR3 | c.703G= (p.Gly235=) c.691G= (p.Gly231=) n.79G= c.163G= (p.Gly55=) n.959G= n.978G= | |
4 | g.1801707G>T | CA355975636 | FGFR3 | c.703G>T (p.Gly235Cys) c.691G>T (p.Gly231Cys) n.79G>T c.163G>T (p.Gly55Cys) n.959G>T n.978G>T | |
4 | g.1801708G>A | CA355975638 | FGFR3 | c.704G>A (p.Gly235Asp) c.692G>A (p.Gly231Asp) n.80G>A c.164G>A (p.Gly55Asp) n.960G>A n.979G>A | COSMIC COSMIC |
4 | g.1801708G>C | CA355975639 | FGFR3 | c.704G>C (p.Gly235Ala) c.692G>C (p.Gly231Ala) n.80G>C c.164G>C (p.Gly55Ala) n.960G>C n.979G>C | |
4 | g.1801708G>T | CA355975641 | FGFR3 | c.704G>T (p.Gly235Val) c.692G>T (p.Gly231Val) n.80G>T c.164G>T (p.Gly55Val) n.960G>T n.979G>T | |
4 | g.1801709C>A | CA438063258 | FGFR3 | c.705C>A (p.Gly235=) c.693C>A (p.Gly231=) n.81C>A c.165C>A (p.Gly55=) n.961C>A n.980C>A | |
4 | g.1801709C= | CA1433504959 | FGFR3 | c.705C= (p.Gly235=) c.693C= (p.Gly231=) n.81C= c.165C= (p.Gly55=) n.961C= n.980C= | |
4 | g.1801709C>G | CA438063259 | FGFR3 | c.705C>G (p.Gly235=) c.693C>G (p.Gly231=) n.81C>G c.165C>G (p.Gly55=) n.961C>G n.980C>G | dbSNP |
4 | g.1801709C>T | CA438063260 | FGFR3 | c.705C>T (p.Gly235=) c.693C>T (p.Gly231=) n.81C>T c.165C>T (p.Gly55=) n.961C>T n.980C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801710A>C | CA355975643 | FGFR3 | c.706A>C (p.Ser236Arg) c.694A>C (p.Ser232Arg) n.82A>C c.166A>C (p.Ser56Arg) n.962A>C n.981A>C | |
4 | g.1801710A>G | CA355975644 | FGFR3 | c.706A>G (p.Ser236Gly) c.694A>G (p.Ser232Gly) n.82A>G c.166A>G (p.Ser56Gly) n.962A>G n.981A>G | |
4 | g.1801710A>T | CA355975646 | FGFR3 | c.706A>T (p.Ser236Cys) c.694A>T (p.Ser232Cys) n.82A>T c.166A>T (p.Ser56Cys) n.962A>T n.981A>T | |
4 | g.1801711G>A | CA2809926 | FGFR3 | c.707G>A (p.Ser236Asn) c.695G>A (p.Ser232Asn) n.83G>A c.167G>A (p.Ser56Asn) n.963G>A n.982G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801711G>C | CA355975650 | FGFR3 | c.707G>C (p.Ser236Thr) c.695G>C (p.Ser232Thr) n.83G>C c.167G>C (p.Ser56Thr) n.963G>C n.982G>C | |
4 | g.1801711G= | CA1433504960 | FGFR3 | c.707G= (p.Ser236=) c.695G= (p.Ser232=) n.83G= c.167G= (p.Ser56=) n.963G= n.982G= | |
4 | g.1801711G>T | CA355975649 | FGFR3 | c.707G>T (p.Ser236Ile) c.695G>T (p.Ser232Ile) n.83G>T c.167G>T (p.Ser56Ile) n.963G>T n.982G>T | gnomAD v4 |
4 | g.1801712C>A | CA355975652 | FGFR3 | c.708C>A (p.Ser236Arg) c.696C>A (p.Ser232Arg) n.84C>A c.168C>A (p.Ser56Arg) n.964C>A n.983C>A | |
4 | g.1801712C= | CA1433504961 | FGFR3 | c.708C= (p.Ser236=) c.696C= (p.Ser232=) n.84C= c.168C= (p.Ser56=) n.964C= n.983C= | |
4 | g.1801712C>G | CA355975654 | FGFR3 | c.708C>G (p.Ser236Arg) c.696C>G (p.Ser232Arg) n.84C>G c.168C>G (p.Ser56Arg) n.964C>G n.983C>G | |
4 | g.1801712C>T | CA438063263 | FGFR3 | c.708C>T (p.Ser236=) c.696C>T (p.Ser232=) n.84C>T c.168C>T (p.Ser56=) n.964C>T n.983C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801713A>C | CA355975656 | FGFR3 | c.709A>C (p.Ile237Leu) c.697A>C (p.Ile233Leu) n.85A>C c.169A>C (p.Ile57Leu) n.965A>C n.984A>C | dbSNP |
4 | g.1801713A>G | CA355975657 | FGFR3 | c.709A>G (p.Ile237Val) c.697A>G (p.Ile233Val) n.85A>G c.169A>G (p.Ile57Val) n.965A>G n.984A>G | |
4 | g.1801713A>T | CA355975659 | FGFR3 | c.709A>T (p.Ile237Phe) c.697A>T (p.Ile233Phe) n.85A>T c.169A>T (p.Ile57Phe) n.965A>T n.984A>T | dbSNP |
4 | g.1801714T>A | CA355975661 | FGFR3 | c.710T>A (p.Ile237Asn) c.698T>A (p.Ile233Asn) n.86T>A c.170T>A (p.Ile57Asn) n.966T>A n.985T>A | |
4 | g.1801714T>C | CA355975663 | FGFR3 | c.710T>C (p.Ile237Thr) c.698T>C (p.Ile233Thr) n.86T>C c.170T>C (p.Ile57Thr) n.966T>C n.985T>C | |
4 | g.1801714T>G | CA355975664 | FGFR3 | c.710T>G (p.Ile237Ser) c.698T>G (p.Ile233Ser) n.86T>G c.170T>G (p.Ile57Ser) n.966T>G n.985T>G | |
4 | g.1801715C>A | CA438063266 | FGFR3 | c.711C>A (p.Ile237=) c.699C>A (p.Ile233=) n.87C>A c.171C>A (p.Ile57=) n.967C>A n.986C>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801715C= | CA1433504962 | FGFR3 | c.711C= (p.Ile237=) c.699C= (p.Ile233=) n.87C= c.171C= (p.Ile57=) n.967C= n.986C= | |
4 | g.1801715C>G | CA355975666 | FGFR3 | c.711C>G (p.Ile237Met) c.699C>G (p.Ile233Met) n.87C>G c.171C>G (p.Ile57Met) n.967C>G n.986C>G | gnomAD v4 |
4 | g.1801715C>T | CA438063267 | FGFR3 | c.711C>T (p.Ile237=) c.699C>T (p.Ile233=) n.87C>T c.171C>T (p.Ile57=) n.967C>T n.986C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.1801716C>A | CA438063269 | FGFR3 | c.712C>A (p.Arg238=) c.700C>A (p.Arg234=) n.88C>A c.172C>A (p.Arg58=) n.968C>A n.987C>A | dbSNP gnomAD v4 |
4 | g.1801716C= | CA1433504963 | FGFR3 | c.712C= (p.Arg238=) c.700C= (p.Arg234=) n.88C= c.172C= (p.Arg58=) n.968C= n.987C= | |
4 | g.1801716C>G | CA355975668 | FGFR3 | c.712C>G (p.Arg238Gly) c.700C>G (p.Arg234Gly) n.88C>G c.172C>G (p.Arg58Gly) n.968C>G n.987C>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.1801716C>T | CA2809927 | FGFR3 | c.712C>T (p.Arg238Trp) c.700C>T (p.Arg234Trp) n.88C>T c.172C>T (p.Arg58Trp) n.968C>T n.987C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801717G>A | CA2809928 | FGFR3 | c.713G>A (p.Arg238Gln) c.701G>A (p.Arg234Gln) n.89G>A c.173G>A (p.Arg58Gln) n.969G>A n.988G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801717G>C | CA355975672 | FGFR3 | c.713G>C (p.Arg238Pro) c.701G>C (p.Arg234Pro) n.89G>C c.173G>C (p.Arg58Pro) n.969G>C n.988G>C | |
4 | g.1801717G= | CA1433504964 | FGFR3 | c.713G= (p.Arg238=) c.701G= (p.Arg234=) n.89G= c.173G= (p.Arg58=) n.969G= n.988G= | |
4 | g.1801717G>T | CA355975670 | FGFR3 | c.713G>T (p.Arg238Leu) c.701G>T (p.Arg234Leu) n.89G>T c.173G>T (p.Arg58Leu) n.969G>T n.988G>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801718G>A | CA438063275 | FGFR3 | c.714G>A (p.Arg238=) c.702G>A (p.Arg234=) n.90G>A c.174G>A (p.Arg58=) n.970G>A n.989G>A | dbSNP gnomAD v4 |
4 | g.1801718G>C | CA438063273 | FGFR3 | c.714G>C (p.Arg238=) c.702G>C (p.Arg234=) n.90G>C c.174G>C (p.Arg58=) n.970G>C n.989G>C | |
4 | g.1801718G>T | CA438063274 | FGFR3 | c.714G>T (p.Arg238=) c.702G>T (p.Arg234=) n.90G>T c.174G>T (p.Arg58=) n.970G>T n.989G>T | |
4 | g.1801719C>A | CA355975675 | FGFR3 | c.715C>A (p.Gln239Lys) c.703C>A (p.Gln235Lys) n.91C>A c.175C>A (p.Gln59Lys) n.971C>A n.990C>A | |
4 | g.1801719C>G | CA355975677 | FGFR3 | c.715C>G (p.Gln239Glu) c.703C>G (p.Gln235Glu) n.91C>G c.175C>G (p.Gln59Glu) n.971C>G n.990C>G | |
4 | g.1801719C>T | CA355975678 | FGFR3 | c.715C>T (p.Gln239Ter) c.703C>T (p.Gln235Ter) n.91C>T c.175C>T (p.Gln59Ter) n.971C>T n.990C>T | dbSNP |
4 | g.1801720A>C | CA355975680 | FGFR3 | c.716A>C (p.Gln239Pro) c.704A>C (p.Gln235Pro) n.92A>C c.176A>C (p.Gln59Pro) n.972A>C n.991A>C | |
4 | g.1801720A>G | CA355975682 | FGFR3 | c.716A>G (p.Gln239Arg) c.704A>G (p.Gln235Arg) n.92A>G c.176A>G (p.Gln59Arg) n.972A>G n.991A>G | |
4 | g.1801720A>T | CA355975684 | FGFR3 | c.716A>T (p.Gln239Leu) c.704A>T (p.Gln235Leu) n.92A>T c.176A>T (p.Gln59Leu) n.972A>T n.991A>T | |
4 | g.1801721G>A | CA438063278 | FGFR3 | c.717G>A (p.Gln239=) c.705G>A (p.Gln235=) n.93G>A c.177G>A (p.Gln59=) n.973G>A n.992G>A | gnomAD v4 |
4 | g.1801721G>C | CA355975685 | FGFR3 | c.717G>C (p.Gln239His) c.705G>C (p.Gln235His) n.93G>C c.177G>C (p.Gln59His) n.973G>C n.992G>C | |
4 | g.1801721G>T | CA355975687 | FGFR3 | c.717G>T (p.Gln239His) c.705G>T (p.Gln235His) n.93G>T c.177G>T (p.Gln59His) n.973G>T n.992G>T | |
4 | g.1801722A= | CA1433504965 | FGFR3 | c.718A= (p.Thr240=) c.706A= (p.Thr236=) n.94A= c.178A= (p.Thr60=) n.974A= n.993A= | |
4 | g.1801722A>C | CA355975688 | FGFR3 | c.718A>C (p.Thr240Pro) c.706A>C (p.Thr236Pro) n.94A>C c.178A>C (p.Thr60Pro) n.974A>C n.993A>C | |
4 | g.1801722A>G | CA355975690 | FGFR3 | c.718A>G (p.Thr240Ala) c.706A>G (p.Thr236Ala) n.94A>G c.178A>G (p.Thr60Ala) n.974A>G n.993A>G | |
4 | g.1801722A>T | CA355975692 | FGFR3 | c.718A>T (p.Thr240Ser) c.706A>T (p.Thr236Ser) n.94A>T c.178A>T (p.Thr60Ser) n.974A>T n.993A>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801723C>A | CA355975696 | FGFR3 | c.719C>A (p.Thr240Lys) c.707C>A (p.Thr236Lys) n.95C>A c.179C>A (p.Thr60Lys) n.975C>A n.994C>A | |
4 | g.1801723C= | CA1433504966 | FGFR3 | c.719C= (p.Thr240=) c.707C= (p.Thr236=) n.95C= c.179C= (p.Thr60=) n.975C= n.994C= | |
4 | g.1801723C>G | CA355975694 | FGFR3 | c.719C>G (p.Thr240Arg) c.707C>G (p.Thr236Arg) n.95C>G c.179C>G (p.Thr60Arg) n.975C>G n.994C>G | |
4 | g.1801723C>T | CA2809929 | FGFR3 | c.719C>T (p.Thr240Met) c.707C>T (p.Thr236Met) n.95C>T c.179C>T (p.Thr60Met) n.975C>T n.994C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801724G>A | CA91249567 | FGFR3 | c.720G>A (p.Thr240=) c.708G>A (p.Thr236=) n.96G>A c.180G>A (p.Thr60=) n.976G>A n.995G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801724G>C | CA438063282 | FGFR3 | c.720G>C (p.Thr240=) c.708G>C (p.Thr236=) n.96G>C c.180G>C (p.Thr60=) n.976G>C n.995G>C | dbSNP |
4 | g.1801724G= | CA1433504967 | FGFR3 | c.720G= (p.Thr240=) c.708G= (p.Thr236=) n.96G= c.180G= (p.Thr60=) n.976G= n.995G= | |
4 | g.1801724G>T | CA438063283 | FGFR3 | c.720G>T (p.Thr240=) c.708G>T (p.Thr236=) n.96G>T c.180G>T (p.Thr60=) n.976G>T n.995G>T | gnomAD v4 |
4 | g.1801725T>A | CA355975699 | FGFR3 | c.721T>A (p.Tyr241Asn) c.709T>A (p.Tyr237Asn) n.97T>A c.181T>A (p.Tyr61Asn) n.977T>A n.996T>A | dbSNP |
4 | g.1801725T>C | CA355975700 | FGFR3 | c.721T>C (p.Tyr241His) c.709T>C (p.Tyr237His) n.97T>C c.181T>C (p.Tyr61His) n.977T>C n.996T>C | |
4 | g.1801725T>G | CA355975702 | FGFR3 | c.721T>G (p.Tyr241Asp) c.709T>G (p.Tyr237Asp) n.97T>G c.181T>G (p.Tyr61Asp) n.977T>G n.996T>G | |
4 | g.1801726_1801732del | CA2669560623 | FGFR3 | c.722_728del (p.Tyr241TrpfsTer?) c.710_716del (p.Tyr237TrpfsTer?) n.98_104del c.182_188del (p.Tyr61TrpfsTer?) n.978_984del n.997_1003del | gnomAD v4 |