Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
4 | g.1801521C>A | CA438062827 | FGFR3 | c.600C>A (p.Arg200=) c.588C>A (p.Arg196=) c.60C>A (p.Arg20=) n.856C>A n.875C>A | gnomAD v4 |
4 | g.1801521C>G | CA438062828 | FGFR3 | c.600C>G (p.Arg200=) c.588C>G (p.Arg196=) c.60C>G (p.Arg20=) n.856C>G n.875C>G | |
4 | g.1801521C>T | CA438062829 | FGFR3 | c.600C>T (p.Arg200=) c.588C>T (p.Arg196=) c.60C>T (p.Arg20=) n.856C>T n.875C>T | |
4 | g.1801522A>C | CA355975326 | FGFR3 | c.601A>C (p.Ile201Leu) c.589A>C (p.Ile197Leu) c.61A>C (p.Ile21Leu) n.857A>C n.876A>C | |
4 | g.1801522A>G | CA355975329 | FGFR3 | c.601A>G (p.Ile201Val) c.589A>G (p.Ile197Val) c.61A>G (p.Ile21Val) n.857A>G n.876A>G | gnomAD v4 |
4 | g.1801522A>T | CA355975328 | FGFR3 | c.601A>T (p.Ile201Phe) c.589A>T (p.Ile197Phe) c.61A>T (p.Ile21Phe) n.857A>T n.876A>T | |
4 | g.1801523T>A | CA355975331 | FGFR3 | c.602T>A (p.Ile201Asn) c.590T>A (p.Ile197Asn) c.62T>A (p.Ile21Asn) n.858T>A n.877T>A | gnomAD v4 |
4 | g.1801523T>C | CA355975333 | FGFR3 | c.602T>C (p.Ile201Thr) c.590T>C (p.Ile197Thr) c.62T>C (p.Ile21Thr) n.858T>C n.877T>C | |
4 | g.1801523T>G | CA355975334 | FGFR3 | c.602T>G (p.Ile201Ser) c.590T>G (p.Ile197Ser) c.62T>G (p.Ile21Ser) n.858T>G n.877T>G | |
4 | g.1801524T>A | CA438062830 | FGFR3 | c.603T>A (p.Ile201=) c.591T>A (p.Ile197=) c.63T>A (p.Ile21=) n.859T>A n.878T>A | |
4 | g.1801524T>C | CA202980 | FGFR3 | c.603T>C (p.Ile201=) c.591T>C (p.Ile197=) c.63T>C (p.Ile21=) n.859T>C n.878T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.1801524T>G | CA355975336 | FGFR3 | c.603T>G (p.Ile201Met) c.591T>G (p.Ile197Met) c.63T>G (p.Ile21Met) n.859T>G n.878T>G | |
4 | g.1801524T= | CA1433504858 | FGFR3 | c.603T= (p.Ile201=) c.591T= (p.Ile197=) c.63T= (p.Ile21=) n.859T= n.878T= | |
4 | g.1801525G>A | CA355975340 | FGFR3 | c.604G>A (p.Gly202Arg) c.592G>A (p.Gly198Arg) c.64G>A (p.Gly22Arg) n.860G>A n.879G>A | dbSNP gnomAD v2 |
4 | g.1801525G>C | CA355975338 | FGFR3 | c.604G>C (p.Gly202Arg) c.592G>C (p.Gly198Arg) c.64G>C (p.Gly22Arg) n.860G>C n.879G>C | |
4 | g.1801525G= | CA1433504859 | FGFR3 | c.604G= (p.Gly202=) c.592G= (p.Gly198=) c.64G= (p.Gly22=) n.860G= n.879G= | |
4 | g.1801525G>T | CA355975337 | FGFR3 | c.604G>T (p.Gly202Ter) c.592G>T (p.Gly198Ter) c.64G>T (p.Gly22Ter) n.860G>T n.879G>T | gnomAD v4 |
4 | g.1801526G>A | CA355975342 | FGFR3 | c.605G>A (p.Gly202Glu) c.593G>A (p.Gly198Glu) c.65G>A (p.Gly22Glu) n.861G>A n.880G>A | |
4 | g.1801526G>C | CA355975343 | FGFR3 | c.605G>C (p.Gly202Ala) c.593G>C (p.Gly198Ala) c.65G>C (p.Gly22Ala) n.861G>C n.880G>C | |
4 | g.1801526G>T | CA355975345 | FGFR3 | c.605G>T (p.Gly202Val) c.593G>T (p.Gly198Val) c.65G>T (p.Gly22Val) n.861G>T n.880G>T | gnomAD v4 |
4 | g.1801527A>C | CA438062831 | FGFR3 | c.606A>C (p.Gly202=) c.594A>C (p.Gly198=) c.66A>C (p.Gly22=) n.862A>C n.881A>C | gnomAD v4 |
4 | g.1801527A>G | CA438062833 | FGFR3 | c.606A>G (p.Gly202=) c.594A>G (p.Gly198=) c.66A>G (p.Gly22=) n.862A>G n.881A>G | dbSNP gnomAD v4 |
4 | g.1801527A>T | CA438062832 | FGFR3 | c.606A>T (p.Gly202=) c.594A>T (p.Gly198=) c.66A>T (p.Gly22=) n.862A>T n.881A>T | gnomAD v4 |
4 | g.1801528G>A | CA355975348 | FGFR3 | c.607G>A (p.Gly203Ser) c.595G>A (p.Gly199Ser) c.67G>A (p.Gly23Ser) n.863G>A n.882G>A | dbSNP gnomAD v2 |
4 | g.1801528G>C | CA355975349 | FGFR3 | c.607G>C (p.Gly203Arg) c.595G>C (p.Gly199Arg) c.67G>C (p.Gly23Arg) n.863G>C n.882G>C | |
4 | g.1801528G= | CA1433504860 | FGFR3 | c.607G= (p.Gly203=) c.595G= (p.Gly199=) c.67G= (p.Gly23=) n.863G= n.882G= | |
4 | g.1801528G>T | CA355975351 | FGFR3 | c.607G>T (p.Gly203Cys) c.595G>T (p.Gly199Cys) c.67G>T (p.Gly23Cys) n.863G>T n.882G>T | gnomAD v4 |
4 | g.1801529G>A | CA355975353 | FGFR3 | c.608G>A (p.Gly203Asp) c.596G>A (p.Gly199Asp) c.68G>A (p.Gly23Asp) n.864G>A n.883G>A | gnomAD v4 |
4 | g.1801529G>C | CA355975356 | FGFR3 | c.608G>C (p.Gly203Ala) c.596G>C (p.Gly199Ala) c.68G>C (p.Gly23Ala) n.864G>C n.883G>C | |
4 | g.1801529G>T | CA355975355 | FGFR3 | c.608G>T (p.Gly203Val) c.596G>T (p.Gly199Val) c.68G>T (p.Gly23Val) n.864G>T n.883G>T | gnomAD v4 |
4 | g.1801530C>A | CA438062834 | FGFR3 | c.609C>A (p.Gly203=) c.597C>A (p.Gly199=) c.69C>A (p.Gly23=) n.865C>A n.884C>A | gnomAD v4 |
4 | g.1801530C>G | CA438062835 | FGFR3 | c.609C>G (p.Gly203=) c.597C>G (p.Gly199=) c.69C>G (p.Gly23=) n.865C>G n.884C>G | |
4 | g.1801530C>T | CA438062836 | FGFR3 | c.609C>T (p.Gly203=) c.597C>T (p.Gly199=) c.69C>T (p.Gly23=) n.865C>T n.884C>T | |
4 | g.1801531A>C | CA355975358 | FGFR3 | c.610A>C (p.Ile204Leu) c.598A>C (p.Ile200Leu) c.70A>C (p.Ile24Leu) n.866A>C n.885A>C | |
4 | g.1801531A>G | CA355975360 | FGFR3 | c.610A>G (p.Ile204Val) c.598A>G (p.Ile200Val) c.70A>G (p.Ile24Val) n.866A>G n.885A>G | |
4 | g.1801531A>T | CA355975362 | FGFR3 | c.610A>T (p.Ile204Phe) c.598A>T (p.Ile200Phe) c.70A>T (p.Ile24Phe) n.866A>T n.885A>T | gnomAD v4 |
4 | g.1801532T>A | CA355975364 | FGFR3 | c.611T>A (p.Ile204Asn) c.599T>A (p.Ile200Asn) c.71T>A (p.Ile24Asn) n.867T>A n.886T>A | dbSNP |
4 | g.1801532T>C | CA355975366 | FGFR3 | c.611T>C (p.Ile204Thr) c.599T>C (p.Ile200Thr) c.71T>C (p.Ile24Thr) n.867T>C n.886T>C | dbSNP |
4 | g.1801532T>G | CA355975368 | FGFR3 | c.611T>G (p.Ile204Ser) c.599T>G (p.Ile200Ser) c.71T>G (p.Ile24Ser) n.867T>G n.886T>G | dbSNP |
4 | g.1801533C>A | CA438062837 | FGFR3 | c.612C>A (p.Ile204=) c.600C>A (p.Ile200=) c.72C>A (p.Ile24=) n.868C>A n.887C>A | gnomAD v4 |
4 | g.1801533C= | CA1433504861 | FGFR3 | c.612C= (p.Ile204=) c.600C= (p.Ile200=) c.72C= (p.Ile24=) n.868C= n.887C= | |
4 | g.1801533C>G | CA355975369 | FGFR3 | c.612C>G (p.Ile204Met) c.600C>G (p.Ile200Met) c.72C>G (p.Ile24Met) n.868C>G n.887C>G | |
4 | g.1801533C>T | CA438062838 | FGFR3 | c.612C>T (p.Ile204=) c.600C>T (p.Ile200=) c.72C>T (p.Ile24=) n.868C>T n.887C>T | dbSNP gnomAD v4 |
4 | g.1801534A>C | CA355975370 | FGFR3 | c.613A>C (p.Lys205Gln) c.601A>C (p.Lys201Gln) c.73A>C (p.Lys25Gln) n.869A>C n.888A>C | |
4 | g.1801534A>G | CA355975372 | FGFR3 | c.613A>G (p.Lys205Glu) c.601A>G (p.Lys201Glu) c.73A>G (p.Lys25Glu) n.869A>G n.888A>G | |
4 | g.1801534A>T | CA355975373 | FGFR3 | c.613A>T (p.Lys205Ter) c.601A>T (p.Lys201Ter) c.73A>T (p.Lys25Ter) n.869A>T n.888A>T | gnomAD v4 |
4 | g.1801535A>C | CA355975378 | FGFR3 | c.614A>C (p.Lys205Thr) c.602A>C (p.Lys201Thr) c.74A>C (p.Lys25Thr) n.870A>C n.889A>C | |
4 | g.1801535A>G | CA355975376 | FGFR3 | c.614A>G (p.Lys205Arg) c.602A>G (p.Lys201Arg) c.74A>G (p.Lys25Arg) n.870A>G n.889A>G | dbSNP |
4 | g.1801535A>T | CA355975374 | FGFR3 | c.614A>T (p.Lys205Met) c.602A>T (p.Lys201Met) c.74A>T (p.Lys25Met) n.870A>T n.889A>T | gnomAD v4 |
4 | g.1801537_1801619del | CA2809872 | FGFR3 | c.615+1_616-1del c.603+1_604-1del c.75+1_76-1del n.871+1_872-1del n.890+1_891-1del | ExAC gnomAD v2 gnomAD v4 |
4 | g.1801536G>A | CA438062839 | FGFR3 | c.615G>A (p.Lys205=) c.603G>A (p.Lys201=) c.75G>A (p.Lys25=) n.871G>A n.890G>A | |
4 | g.1801536G>C | CA355975379 | FGFR3 | c.615G>C (p.Lys205Asn) c.603G>C (p.Lys201Asn) c.75G>C (p.Lys25Asn) n.871G>C n.890G>C | |
4 | g.1801536G>T | CA355975380 | FGFR3 | c.615G>T (p.Lys205Asn) c.603G>T (p.Lys201Asn) c.75G>T (p.Lys25Asn) n.871G>T n.890G>T | gnomAD v4 |
4 | g.1801537G>A | CA355975381 | FGFR3 | c.615+1G>A (n.615+1G>A) c.603+1G>A (n.603+1G>A) c.75+1G>A (n.75+1G>A) n.871+1G>A n.890+1G>A | gnomAD v4 |
4 | g.1801537G>C | CA355975384 | FGFR3 | c.615+1G>C (n.615+1G>C) c.603+1G>C (n.603+1G>C) c.75+1G>C (n.75+1G>C) n.871+1G>C n.890+1G>C | |
4 | g.1801537G>T | CA355975382 | FGFR3 | c.615+1G>T (n.615+1G>T) c.603+1G>T (n.603+1G>T) c.75+1G>T (n.75+1G>T) n.871+1G>T n.890+1G>T | |
4 | g.1801538T>A | CA355975386 | FGFR3 | c.615+2T>A (n.615+2T>A) c.603+2T>A (n.603+2T>A) c.75+2T>A (n.75+2T>A) n.871+2T>A n.890+2T>A | |
4 | g.1801538T>C | CA355975389 | FGFR3 | c.615+2T>C (n.615+2T>C) c.603+2T>C (n.603+2T>C) c.75+2T>C (n.75+2T>C) n.871+2T>C n.890+2T>C | |
4 | g.1801538T>G | CA355975388 | FGFR3 | c.615+2T>G (n.615+2T>G) c.603+2T>G (n.603+2T>G) c.75+2T>G (n.75+2T>G) n.871+2T>G n.890+2T>G | dbSNP |
4 | g.1801539G>A | CA2704781297 | FGFR3 | c.615+3G>A (n.615+3G>A) c.603+3G>A (n.603+3G>A) c.75+3G>A (n.75+3G>A) n.871+3G>A n.890+3G>A | dbSNP |
4 | g.1801539G>C | CA1058526136 | FGFR3 | c.615+3G>C (n.615+3G>C) c.603+3G>C (n.603+3G>C) c.75+3G>C (n.75+3G>C) n.871+3G>C n.890+3G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.1801539G= | CA1433504862 | FGFR3 | c.615+3G= (n.615+3G=) c.603+3G= (n.603+3G=) c.75+3G= (n.75+3G=) n.871+3G= n.890+3G= | |
4 | g.1801539G>T | CA2669560532 | FGFR3 | c.615+3G>T (n.615+3G>T) c.603+3G>T (n.603+3G>T) c.75+3G>T (n.75+3G>T) n.871+3G>T n.890+3G>T | gnomAD v4 |
4 | g.1801540G>A | CA549266693 | FGFR3 | c.615+4G>A (n.615+4G>A) c.603+4G>A (n.603+4G>A) c.75+4G>A (n.75+4G>A) n.871+4G>A n.890+4G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801540G= | CA1433504863 | FGFR3 | c.615+4G= (n.615+4G=) c.603+4G= (n.603+4G=) c.75+4G= (n.75+4G=) n.871+4G= n.890+4G= | |
4 | g.1801540G>T | CA2669560533 | FGFR3 | c.615+4G>T (n.615+4G>T) c.603+4G>T (n.603+4G>T) c.75+4G>T (n.75+4G>T) n.871+4G>T n.890+4G>T | gnomAD v4 |
4 | g.1801541G>A | CA2669560534 | FGFR3 | c.615+5G>A (n.615+5G>A) c.603+5G>A (n.603+5G>A) c.75+5G>A (n.75+5G>A) n.871+5G>A n.890+5G>A | gnomAD v4 |
4 | g.1801542C>A | CA2809873 | FGFR3 | c.615+6C>A (n.615+6C>A) c.603+6C>A (n.603+6C>A) c.75+6C>A (n.75+6C>A) n.871+6C>A n.890+6C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801542C= | CA1433504864 | FGFR3 | c.615+6C= (n.615+6C=) c.603+6C= (n.603+6C=) c.75+6C= (n.75+6C=) n.871+6C= n.890+6C= | |
4 | g.1801542C>T | CA2809874 | FGFR3 | c.615+6C>T (n.615+6C>T) c.603+6C>T (n.603+6C>T) c.75+6C>T (n.75+6C>T) n.871+6C>T n.890+6C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801543G>A | CA2809875 | FGFR3 | c.615+7G>A (n.615+7G>A) c.603+7G>A (n.603+7G>A) c.75+7G>A (n.75+7G>A) n.871+7G>A n.890+7G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801543G= | CA1433504865 | FGFR3 | c.615+7G= (n.615+7G=) c.603+7G= (n.603+7G=) c.75+7G= (n.75+7G=) n.871+7G= n.890+7G= | |
4 | g.1801543G>T | CA2669560535 | FGFR3 | c.615+7G>T (n.615+7G>T) c.603+7G>T (n.603+7G>T) c.75+7G>T (n.75+7G>T) n.871+7G>T n.890+7G>T | gnomAD v4 |
4 | g.1801544C>A | CA2580070714 | FGFR3 | c.615+8C>A (n.615+8C>A) c.603+8C>A (n.603+8C>A) c.75+8C>A (n.75+8C>A) n.871+8C>A n.890+8C>A | ClinVar gnomAD v4 |
4 | g.1801544C= | CA1433504866 | FGFR3 | c.615+8C= (n.615+8C=) c.603+8C= (n.603+8C=) c.75+8C= (n.75+8C=) n.871+8C= n.890+8C= | |
4 | g.1801544C>G | CA202983 | FGFR3 | c.615+8C>G (n.615+8C>G) c.603+8C>G (n.603+8C>G) c.75+8C>G (n.75+8C>G) n.871+8C>G n.890+8C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801544C>T | CA2809876 | FGFR3 | c.615+8C>T (n.615+8C>T) c.603+8C>T (n.603+8C>T) c.75+8C>T (n.75+8C>T) n.871+8C>T n.890+8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801545G>A | CA2809877 | FGFR3 | c.615+9G>A (n.615+9G>A) c.603+9G>A (n.603+9G>A) c.75+9G>A (n.75+9G>A) n.871+9G>A n.890+9G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801545G>C | CA1058526166 | FGFR3 | c.615+9G>C (n.615+9G>C) c.603+9G>C (n.603+9G>C) c.75+9G>C (n.75+9G>C) n.871+9G>C n.890+9G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.1801545G= | CA1433504867 | FGFR3 | c.615+9G= (n.615+9G=) c.603+9G= (n.603+9G=) c.75+9G= (n.75+9G=) n.871+9G= n.890+9G= | |
4 | g.1801545G>T | CA2578018053 | FGFR3 | c.615+9G>T (n.615+9G>T) c.603+9G>T (n.603+9G>T) c.75+9G>T (n.75+9G>T) n.871+9G>T n.890+9G>T | gnomAD v4 |
4 | g.1801546G>A | CA549266695 | FGFR3 | c.615+10G>A (n.615+10G>A) c.603+10G>A (n.603+10G>A) c.75+10G>A (n.75+10G>A) n.871+10G>A n.890+10G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1801546G= | CA1433504868 | FGFR3 | c.615+10G= (n.615+10G=) c.603+10G= (n.603+10G=) c.75+10G= (n.75+10G=) n.871+10G= n.890+10G= | |
4 | g.1801546G>T | CA2669560536 | FGFR3 | c.615+10G>T (n.615+10G>T) c.603+10G>T (n.603+10G>T) c.75+10G>T (n.75+10G>T) n.871+10G>T n.890+10G>T | gnomAD v4 |
4 | g.1801547C>A | CA2508602322 | FGFR3 | c.615+11C>A (n.615+11C>A) c.603+11C>A (n.603+11C>A) c.75+11C>A (n.75+11C>A) n.871+11C>A n.890+11C>A | gnomAD v4 |
4 | g.1801547C= | CA1433504869 | FGFR3 | c.615+11C= (n.615+11C=) c.603+11C= (n.603+11C=) c.75+11C= (n.75+11C=) n.871+11C= n.890+11C= | |
4 | g.1801547C>T | CA2809878 | FGFR3 | c.615+11C>T (n.615+11C>T) c.603+11C>T (n.603+11C>T) c.75+11C>T (n.75+11C>T) n.871+11C>T n.890+11C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801548G>A | CA2809879 | FGFR3 | c.615+12G>A (n.615+12G>A) c.603+12G>A (n.603+12G>A) c.75+12G>A (n.75+12G>A) n.871+12G>A n.890+12G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801548G= | CA1433504870 | FGFR3 | c.615+12G= (n.615+12G=) c.603+12G= (n.603+12G=) c.75+12G= (n.75+12G=) n.871+12G= n.890+12G= | |
4 | g.1801548G>T | CA2669560537 | FGFR3 | c.615+12G>T (n.615+12G>T) c.603+12G>T (n.603+12G>T) c.75+12G>T (n.75+12G>T) n.871+12G>T n.890+12G>T | gnomAD v4 |
4 | g.1801549G>C | CA2669560538 | FGFR3 | c.615+13G>C (n.615+13G>C) c.603+13G>C (n.603+13G>C) c.75+13G>C (n.75+13G>C) n.871+13G>C n.890+13G>C | gnomAD v4 |
4 | g.1801549G>T | CA2669560539 | FGFR3 | c.615+13G>T (n.615+13G>T) c.603+13G>T (n.603+13G>T) c.75+13G>T (n.75+13G>T) n.871+13G>T n.890+13G>T | gnomAD v4 |
4 | g.1801550G>A | CA2704954626 | FGFR3 | c.615+14G>A (n.615+14G>A) c.603+14G>A (n.603+14G>A) c.75+14G>A (n.75+14G>A) n.871+14G>A n.890+14G>A | dbSNP |
4 | g.1801551G>A | CA2704954685 | FGFR3 | c.615+15G>A (n.615+15G>A) c.603+15G>A (n.603+15G>A) c.75+15G>A (n.75+15G>A) n.871+15G>A n.890+15G>A | dbSNP |
4 | g.1801551G>T | CA2669560540 | FGFR3 | c.615+15G>T (n.615+15G>T) c.603+15G>T (n.603+15G>T) c.75+15G>T (n.75+15G>T) n.871+15G>T n.890+15G>T | gnomAD v4 |
4 | g.1801552T>A | CA2704725961 | FGFR3 | c.615+16T>A (n.615+16T>A) c.603+16T>A (n.603+16T>A) c.75+16T>A (n.75+16T>A) n.871+16T>A n.890+16T>A | dbSNP |
4 | g.1801552T>G | CA2809880 | FGFR3 | c.615+16T>G (n.615+16T>G) c.603+16T>G (n.603+16T>G) c.75+16T>G (n.75+16T>G) n.871+16T>G n.890+16T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801552T= | CA1433504871 | FGFR3 | c.615+16T= (n.615+16T=) c.603+16T= (n.603+16T=) c.75+16T= (n.75+16T=) n.871+16T= n.890+16T= | |
4 | g.1801553G>A | CA791732137 | FGFR3 | c.615+17G>A (n.615+17G>A) c.603+17G>A (n.603+17G>A) c.75+17G>A (n.75+17G>A) n.871+17G>A n.890+17G>A | dbSNP |
4 | g.1801553G= | CA1433504872 | FGFR3 | c.615+17G= (n.615+17G=) c.603+17G= (n.603+17G=) c.75+17G= (n.75+17G=) n.871+17G= n.890+17G= | |
4 | g.1801553G>T | CA2500870257 | FGFR3 | c.615+17G>T (n.615+17G>T) c.603+17G>T (n.603+17G>T) c.75+17G>T (n.75+17G>T) n.871+17G>T n.890+17G>T | |
4 | g.1801554G>A | CA2669560541 | FGFR3 | c.615+18G>A (n.615+18G>A) c.603+18G>A (n.603+18G>A) c.75+18G>A (n.75+18G>A) n.871+18G>A n.890+18G>A | dbSNP gnomAD v4 |
4 | g.1801555C>A | CA2669560542 | FGFR3 | c.615+19C>A (n.615+19C>A) c.603+19C>A (n.603+19C>A) c.75+19C>A (n.75+19C>A) n.871+19C>A n.890+19C>A | gnomAD v4 |
4 | g.1801555C>G | CA2704954726 | FGFR3 | c.615+19C>G (n.615+19C>G) c.603+19C>G (n.603+19C>G) c.75+19C>G (n.75+19C>G) n.871+19C>G n.890+19C>G | dbSNP |
4 | g.1801555C>T | CA2669560543 | FGFR3 | c.615+19C>T (n.615+19C>T) c.603+19C>T (n.603+19C>T) c.75+19C>T (n.75+19C>T) n.871+19C>T n.890+19C>T | gnomAD v4 |
4 | g.1801556T>C | CA658796414 | FGFR3 | c.615+20T>C (n.615+20T>C) c.603+20T>C (n.603+20T>C) c.75+20T>C (n.75+20T>C) n.871+20T>C n.890+20T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.1801556T= | CA1433504873 | FGFR3 | c.615+20T= (n.615+20T=) c.603+20T= (n.603+20T=) c.75+20T= (n.75+20T=) n.871+20T= n.890+20T= | |
4 | g.1801558T>C | CA2669560545 | FGFR3 | c.615+22T>C (n.615+22T>C) c.603+22T>C (n.603+22T>C) c.75+22T>C (n.75+22T>C) n.871+22T>C n.890+22T>C | gnomAD v4 |
4 | g.1801558_1801559del | CA2669560544 | FGFR3 | c.615+22_615+23del (n.615+22_615+23del) c.603+22_603+23del (n.603+22_603+23del) c.75+22_75+23del (n.75+22_75+23del) n.871+22_871+23del n.890+22_890+23del | gnomAD v4 |
4 | g.1801559G>C | CA2669560546 | FGFR3 | c.615+23G>C (n.615+23G>C) c.603+23G>C (n.603+23G>C) c.75+23G>C (n.75+23G>C) n.871+23G>C n.890+23G>C | gnomAD v4 |
4 | g.1801560G>A | CA2669560547 | FGFR3 | c.615+24G>A (n.615+24G>A) c.603+24G>A (n.603+24G>A) c.75+24G>A (n.75+24G>A) n.871+24G>A n.890+24G>A | gnomAD v4 |
4 | g.1801560G>T | CA2669560548 | FGFR3 | c.615+24G>T (n.615+24G>T) c.603+24G>T (n.603+24G>T) c.75+24G>T (n.75+24G>T) n.871+24G>T n.890+24G>T | gnomAD v4 |
4 | g.1801561G>A | CA91249310 | FGFR3 | c.615+25G>A (n.615+25G>A) c.603+25G>A (n.603+25G>A) c.75+25G>A (n.75+25G>A) n.871+25G>A n.890+25G>A | dbSNP |
4 | g.1801561G= | CA1433504874 | FGFR3 | c.615+25G= (n.615+25G=) c.603+25G= (n.603+25G=) c.75+25G= (n.75+25G=) n.871+25G= n.890+25G= | |
4 | g.1801561G>T | CA2669560550 | FGFR3 | c.615+25G>T (n.615+25G>T) c.603+25G>T (n.603+25G>T) c.75+25G>T (n.75+25G>T) n.871+25G>T n.890+25G>T | gnomAD v4 |
4 | g.1801561_1801563del | CA2669560549 | FGFR3 | c.615+25_615+27del (n.615+25_615+27del) c.603+25_603+27del (n.603+25_603+27del) c.75+25_75+27del (n.75+25_75+27del) n.871+25_871+27del n.890+25_890+27del | gnomAD v4 |
4 | g.1801562C>A | CA2669560551 | FGFR3 | c.615+26C>A (n.615+26C>A) c.603+26C>A (n.603+26C>A) c.75+26C>A (n.75+26C>A) n.871+26C>A n.890+26C>A | gnomAD v4 |
4 | g.1801562C= | CA1433504875 | FGFR3 | c.615+26C= (n.615+26C=) c.603+26C= (n.603+26C=) c.75+26C= (n.75+26C=) n.871+26C= n.890+26C= | |
4 | g.1801562C>G | CA549266696 | FGFR3 | c.615+26C>G (n.615+26C>G) c.603+26C>G (n.603+26C>G) c.75+26C>G (n.75+26C>G) n.871+26C>G n.890+26C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801562C>T | CA2704756241 | FGFR3 | c.615+26C>T (n.615+26C>T) c.603+26C>T (n.603+26C>T) c.75+26C>T (n.75+26C>T) n.871+26C>T n.890+26C>T | dbSNP |
4 | g.1801563C>T | CA2669560552 | FGFR3 | c.615+27C>T (n.615+27C>T) c.603+27C>T (n.603+27C>T) c.75+27C>T (n.75+27C>T) n.871+27C>T n.890+27C>T | dbSNP gnomAD v4 |
4 | g.1801565G>T | CA2669560553 | FGFR3 | c.615+29G>T (n.615+29G>T) c.603+29G>T (n.603+29G>T) c.75+29G>T (n.75+29G>T) n.871+29G>T n.890+29G>T | gnomAD v4 |
4 | g.1801566G>A | CA2809881 | FGFR3 | c.615+30G>A (n.615+30G>A) c.603+30G>A (n.603+30G>A) c.75+30G>A (n.75+30G>A) n.871+30G>A n.890+30G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1801566G= | CA1433504876 | FGFR3 | c.615+30G= (n.615+30G=) c.603+30G= (n.603+30G=) c.75+30G= (n.75+30G=) n.871+30G= n.890+30G= | |
4 | g.1801567C>A | CA91249321 | FGFR3 | c.615+31C>A (n.615+31C>A) c.603+31C>A (n.603+31C>A) c.75+31C>A (n.75+31C>A) n.871+31C>A n.890+31C>A | dbSNP gnomAD v4 |
4 | g.1801567C= | CA1433504877 | FGFR3 | c.615+31C= (n.615+31C=) c.603+31C= (n.603+31C=) c.75+31C= (n.75+31C=) n.871+31C= n.890+31C= | |
4 | g.1801567C>G | CA791732147 | FGFR3 | c.615+31C>G (n.615+31C>G) c.603+31C>G (n.603+31C>G) c.75+31C>G (n.75+31C>G) n.871+31C>G n.890+31C>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.1801567C>T | CA2669560554 | FGFR3 | c.615+31C>T (n.615+31C>T) c.603+31C>T (n.603+31C>T) c.75+31C>T (n.75+31C>T) n.871+31C>T n.890+31C>T | dbSNP gnomAD v4 |
4 | g.1801568A>C | CA2669560555 | FGFR3 | c.615+32A>C (n.615+32A>C) c.603+32A>C (n.603+32A>C) c.75+32A>C (n.75+32A>C) n.871+32A>C n.890+32A>C | gnomAD v4 |
4 | g.1801568A>G | CA2669560556 | FGFR3 | c.615+32A>G (n.615+32A>G) c.603+32A>G (n.603+32A>G) c.75+32A>G (n.75+32A>G) n.871+32A>G n.890+32A>G | dbSNP gnomAD v4 |