| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.10658570T>A | CA408240140 | JAG1 | c.592A>T (p.Lys198Ter) n.458A>T | |
| 20 | g.10658570T>C | CA408240138 | JAG1 | c.592A>G (p.Lys198Glu) n.458A>G | |
| 20 | g.10658570T>G | CA408240141 | JAG1 | c.592A>C (p.Lys198Gln) n.458A>C | |
| 20 | g.10658571A>C | CA408240143 | JAG1 | c.591T>G (p.Asn197Lys) n.457T>G | |
| 20 | g.10658571A>G | CA509816447 | JAG1 | c.591T>C (p.Asn197=) n.457T>C | |
| 20 | g.10658571A>T | CA408240145 | JAG1 | c.591T>A (p.Asn197Lys) n.457T>A | |
| 20 | g.10658572T>A | CA408240146 | JAG1 | c.590A>T (p.Asn197Ile) n.456A>T | |
| 20 | g.10658572T>C | CA408240148 | JAG1 | c.590A>G (p.Asn197Ser) n.456A>G | ClinVar dbSNP gnomAD v4 |
| 20 | g.10658572T>G | CA408240150 | JAG1 | c.590A>C (p.Asn197Thr) n.456A>C | ClinVar |
| 20 | g.10658573T>A | CA408240151 | JAG1 | c.589A>T (p.Asn197Tyr) n.455A>T | |
| 20 | g.10658573T>C | CA408240153 | JAG1 | c.589A>G (p.Asn197Asp) n.455A>G | |
| 20 | g.10658573T>G | CA408240154 | JAG1 | c.589A>C (p.Asn197His) n.455A>C | |
| 20 | g.10658573_10658575delinsTGC | CA2349888407 | JAG1 | c.587_589delinsGCA (p.Cys196=) n.453_455delinsGCA | |
| 20 | g.10658574G>A | CA232489 | JAG1 | c.588C>T (p.Cys196=) n.454C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658574G>C | CA408240157 | JAG1 | c.588C>G (p.Cys196Trp) n.454C>G | |
| 20 | g.10658574G= | CA2349888408 | JAG1 | c.588C= (p.Cys196=) n.454C= | |
| 20 | g.10658574G>T | CA408240159 | JAG1 | c.588C>A (p.Cys196Ter) n.454C>A | ClinVar dbSNP |
| 20 | g.10658574_10658575delinsA | CA323031 | JAG1 | c.587_588delinsT (p.Cys196LeufsTer?) n.453_454delinsT | ClinVar dbSNP |
| 20 | g.10658575C>A | CA408240164 | JAG1 | c.587G>T (p.Cys196Phe) n.453G>T | |
| 20 | g.10658575C>G | CA408240161 | JAG1 | c.587G>C (p.Cys196Ser) n.453G>C | |
| 20 | g.10658575C>T | CA408240163 | JAG1 | c.587G>A (p.Cys196Tyr) n.453G>A | |
| 20 | g.10658576A>C | CA408240166 | JAG1 | c.586T>G (p.Cys196Gly) n.452T>G | |
| 20 | g.10658576A>G | CA408240168 | JAG1 | c.586T>C (p.Cys196Arg) n.452T>C | |
| 20 | g.10658576A>T | CA408240169 | JAG1 | c.586T>A (p.Cys196Ser) n.452T>A | |
| 20 | g.10658577G>A | CA509816453 | JAG1 | c.585C>T (p.Gly195=) n.451C>T | |
| 20 | g.10658577G>C | CA509816454 | JAG1 | c.585C>G (p.Gly195=) n.451C>G | |
| 20 | g.10658577G>T | CA509816455 | JAG1 | c.585C>A (p.Gly195=) n.451C>A | |
| 20 | g.10658578C>A | CA408240171 | JAG1 | c.584G>T (p.Gly195Val) n.450G>T | |
| 20 | g.10658578C>G | CA408240173 | JAG1 | c.584G>C (p.Gly195Ala) n.450G>C | |
| 20 | g.10658578C>T | CA408240174 | JAG1 | c.584G>A (p.Gly195Asp) n.450G>A | |
| 20 | g.10658579C>A | CA408240176 | JAG1 | c.583G>T (p.Gly195Cys) n.449G>T | |
| 20 | g.10658579C>G | CA408240177 | JAG1 | c.583G>C (p.Gly195Arg) n.449G>C | |
| 20 | g.10658579C>T | CA408240179 | JAG1 | c.583G>A (p.Gly195Ser) n.449G>A | |
| 20 | g.10658580A>C | CA408240181 | JAG1 | c.582T>G (p.Phe194Leu) n.448T>G | |
| 20 | g.10658580A>G | CA509816459 | JAG1 | c.582T>C (p.Phe194=) n.448T>C | |
| 20 | g.10658580A>T | CA408240182 | JAG1 | c.582T>A (p.Phe194Leu) n.448T>A | |
| 20 | g.10658582dup | CA2695229555 | JAG1 | c.582dup (p.Gly195TrpfsTer4) n.448dup | |
| 20 | g.10658581A>C | CA408240188 | JAG1 | c.581T>G (p.Phe194Cys) n.447T>G | |
| 20 | g.10658581A>G | CA408240186 | JAG1 | c.581T>C (p.Phe194Ser) n.447T>C | |
| 20 | g.10658581A>T | CA408240184 | JAG1 | c.581T>A (p.Phe194Tyr) n.447T>A | |
| 20 | g.10658582A>C | CA408240189 | JAG1 | c.580T>G (p.Phe194Val) n.446T>G | |
| 20 | g.10658582A>G | CA408240190 | JAG1 | c.580T>C (p.Phe194Leu) n.446T>C | |
| 20 | g.10658582A>T | CA408240192 | JAG1 | c.580T>A (p.Phe194Ile) n.446T>A | |
| 20 | g.10658583G>A | CA509816462 | JAG1 | c.579C>T (p.Gly193=) n.445C>T | |
| 20 | g.10658583G>C | CA509816464 | JAG1 | c.579C>G (p.Gly193=) n.445C>G | dbSNP gnomAD v4 |
| 20 | g.10658583G>T | CA509816463 | JAG1 | c.579C>A (p.Gly193=) n.445C>A | |
| 20 | g.10658583_10658584delinsGC | CA2349888409 | JAG1 | c.578_579delinsGC (p.Gly193=) n.444_445delinsGC | |
| 20 | g.10658584C>A | CA408240194 | JAG1 | c.578G>T (p.Gly193Val) n.444G>T | |
| 20 | g.10658584C>G | CA408240196 | JAG1 | c.578G>C (p.Gly193Ala) n.444G>C | |
| 20 | g.10658584C>T | CA408240197 | JAG1 | c.578G>A (p.Gly193Asp) n.444G>A | |
| 20 | g.10658585del | CA1139665906 | JAG1 | c.578del (p.Gly193AlafsTer?) n.444del | ClinVar dbSNP |
| 20 | g.10658585C>A | CA408240202 | JAG1 | c.577G>T (p.Gly193Cys) n.443G>T | |
| 20 | g.10658585C>G | CA408240198 | JAG1 | c.577G>C (p.Gly193Arg) n.443G>C | |
| 20 | g.10658585C>T | CA408240200 | JAG1 | c.577G>A (p.Gly193Ser) n.443G>A | |
| 20 | g.10658586A>C | CA408240204 | JAG1 | c.576T>G (p.Tyr192Ter) n.442T>G | |
| 20 | g.10658586A>G | CA509816465 | JAG1 | c.576T>C (p.Tyr192=) n.442T>C | |
| 20 | g.10658586A>T | CA408240205 | JAG1 | c.576T>A (p.Tyr192Ter) n.442T>A | |
| 20 | g.10658587T>A | CA408240207 | JAG1 | c.575A>T (p.Tyr192Phe) n.441A>T | |
| 20 | g.10658587T>C | CA408240208 | JAG1 | c.575A>G (p.Tyr192Cys) n.441A>G | ClinVar dbSNP COSMIC COSMIC |
| 20 | g.10658587T>G | CA408240210 | JAG1 | c.575A>C (p.Tyr192Ser) n.441A>C | |
| 20 | g.10658587T= | CA2349888410 | JAG1 | c.575A= (p.Tyr192=) n.441A= | |
| 20 | g.10658588A>C | CA408240212 | JAG1 | c.574T>G (p.Tyr192Asp) n.440T>G | |
| 20 | g.10658588A>G | CA408240215 | JAG1 | c.574T>C (p.Tyr192His) n.440T>C | |
| 20 | g.10658588A>T | CA408240213 | JAG1 | c.574T>A (p.Tyr192Asn) n.440T>A | |
| 20 | g.10658589G>A | CA9765107 | JAG1 | c.573C>T (p.Tyr191=) n.439C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658589G>C | CA408240216 | JAG1 | c.573C>G (p.Tyr191Ter) n.439C>G | |
| 20 | g.10658589G= | CA2349888411 | JAG1 | c.573C= (p.Tyr191=) n.439C= | |
| 20 | g.10658589G>T | CA408240218 | JAG1 | c.573C>A (p.Tyr191Ter) n.439C>A | |
| 20 | g.10658590T>A | CA408240219 | JAG1 | c.572A>T (p.Tyr191Phe) n.438A>T | |
| 20 | g.10658590T>C | CA408240221 | JAG1 | c.572A>G (p.Tyr191Cys) n.438A>G | |
| 20 | g.10658590T>G | CA408240222 | JAG1 | c.572A>C (p.Tyr191Ser) n.438A>C | |
| 20 | g.10658591A>C | CA408240224 | JAG1 | c.571T>G (p.Tyr191Asp) n.437T>G | |
| 20 | g.10658591A>G | CA408240225 | JAG1 | c.571T>C (p.Tyr191His) n.437T>C | ClinVar COSMIC COSMIC |
| 20 | g.10658591A>T | CA408240226 | JAG1 | c.571T>A (p.Tyr191Asn) n.437T>A | |
| 20 | g.10658592G>A | CA509816474 | JAG1 | c.570C>T (p.Tyr190=) n.436C>T | dbSNP |
| 20 | g.10658592G>C | CA408240228 | JAG1 | c.570C>G (p.Tyr190Ter) n.436C>G | |
| 20 | g.10658592G= | CA2349888412 | JAG1 | c.570C= (p.Tyr190=) n.436C= | |
| 20 | g.10658592G>T | CA408240229 | JAG1 | c.570C>A (p.Tyr190Ter) n.436C>A | |
| 20 | g.10658593T>A | CA408240233 | JAG1 | c.569A>T (p.Tyr190Phe) n.435A>T | |
| 20 | g.10658593T>C | CA408240234 | JAG1 | c.569A>G (p.Tyr190Cys) n.435A>G | gnomAD v4 |
| 20 | g.10658593T>G | CA408240231 | JAG1 | c.569A>C (p.Tyr190Ser) n.435A>C | |
| 20 | g.10658594A= | CA2349888413 | JAG1 | c.568T= (p.Tyr190=) n.434T= | |
| 20 | g.10658594A>C | CA408240239 | JAG1 | c.568T>G (p.Tyr190Asp) n.434T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10658594A>G | CA408240235 | JAG1 | c.568T>C (p.Tyr190His) n.434T>C | |
| 20 | g.10658594A>T | CA408240237 | JAG1 | c.568T>A (p.Tyr190Asn) n.434T>A | |
| 20 | g.10658594_10658604delinsAGTCATCACAG | CA2349888414 | JAG1 | c.558_568delinsCTGTGATGACT (p.Thr186=) n.424_434delinsCTGTGATGACT | |
| 20 | g.10658595G>A | CA509816565 | JAG1 | c.567C>T (p.Asp189=) n.433C>T | |
| 20 | g.10658595G>C | CA408240241 | JAG1 | c.567C>G (p.Asp189Glu) n.433C>G | gnomAD v4 |
| 20 | g.10658595G>T | CA408240242 | JAG1 | c.567C>A (p.Asp189Glu) n.433C>A | |
| 20 | g.10658599_10658608del | CA916083750 | JAG1 | c.558_567del (p.Cys187ThrfsTer?) n.424_433del | ClinVar dbSNP |
| 20 | g.10658596T>A | CA408240244 | JAG1 | c.566A>T (p.Asp189Val) n.432A>T | COSMIC COSMIC |
| 20 | g.10658596T>C | CA408240246 | JAG1 | c.566A>G (p.Asp189Gly) n.432A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10658596T>G | CA408240247 | JAG1 | c.566A>C (p.Asp189Ala) n.432A>C | |
| 20 | g.10658596T= | CA2349888415 | JAG1 | c.566A= (p.Asp189=) n.432A= | |
| 20 | g.10658597C>A | CA408240249 | JAG1 | c.565G>T (p.Asp189Tyr) n.431G>T | |
| 20 | g.10658597C>G | CA408240251 | JAG1 | c.565G>C (p.Asp189His) n.431G>C | |
| 20 | g.10658597C>T | CA408240253 | JAG1 | c.565G>A (p.Asp189Asn) n.431G>A | |
| 20 | g.10658598A= | CA2349888416 | JAG1 | c.564T= (p.Asp188=) n.430T= | |
| 20 | g.10658598A>C | CA408240254 | JAG1 | c.564T>G (p.Asp188Glu) n.430T>G | |
| 20 | g.10658598A>G | CA311351517 | JAG1 | c.564T>C (p.Asp188=) n.430T>C | dbSNP |
| 20 | g.10658598A>T | CA408240255 | JAG1 | c.564T>A (p.Asp188Glu) n.430T>A | |
| 20 | g.10658599T>A | CA408240259 | JAG1 | c.563A>T (p.Asp188Val) n.429A>T | |
| 20 | g.10658599T>C | CA408240256 | JAG1 | c.563A>G (p.Asp188Gly) n.429A>G | COSMIC COSMIC |
| 20 | g.10658599T>G | CA408240258 | JAG1 | c.563A>C (p.Asp188Ala) n.429A>C | |
| 20 | g.10658600C>A | CA408240260 | JAG1 | c.562G>T (p.Asp188Tyr) n.428G>T | dbSNP |
| 20 | g.10658600C= | CA2349888417 | JAG1 | c.562G= (p.Asp188=) n.428G= | |
| 20 | g.10658600C>G | CA408240262 | JAG1 | c.562G>C (p.Asp188His) n.428G>C | gnomAD v4 |
| 20 | g.10658600C>T | CA408240263 | JAG1 | c.562G>A (p.Asp188Asn) n.428G>A | |
| 20 | g.10658601A>C | CA408240265 | JAG1 | c.561T>G (p.Cys187Trp) n.427T>G | |
| 20 | g.10658601A>G | CA509816566 | JAG1 | c.561T>C (p.Cys187=) n.427T>C | |
| 20 | g.10658601A>T | CA408240266 | JAG1 | c.561T>A (p.Cys187Ter) n.427T>A | |
| 20 | g.10658602C>A | CA408240268 | JAG1 | c.560G>T (p.Cys187Phe) n.426G>T | |
| 20 | g.10658602C>G | CA408240269 | JAG1 | c.560G>C (p.Cys187Ser) n.426G>C | |
| 20 | g.10658602C>T | CA408240271 | JAG1 | c.560G>A (p.Cys187Tyr) n.426G>A | |
| 20 | g.10658603A>C | CA408240273 | JAG1 | c.559T>G (p.Cys187Gly) n.425T>G | |
| 20 | g.10658603A>G | CA408240274 | JAG1 | c.559T>C (p.Cys187Arg) n.425T>C | ClinVar |
| 20 | g.10658603A>T | CA408240275 | JAG1 | c.559T>A (p.Cys187Ser) n.425T>A | |
| 20 | g.10658604G>A | CA9765108 | JAG1 | c.558C>T (p.Thr186=) n.424C>T | ClinVar dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| 20 | g.10658604G>C | CA509816568 | JAG1 | c.558C>G (p.Thr186=) n.424C>G | |
| 20 | g.10658604G= | CA2349888418 | JAG1 | c.558C= (p.Thr186=) n.424C= | |
| 20 | g.10658604G>T | CA509816567 | JAG1 | c.558C>A (p.Thr186=) n.424C>A | |
| 20 | g.10658605G>A | CA408240280 | JAG1 | c.557C>T (p.Thr186Ile) n.423C>T | |
| 20 | g.10658605G>C | CA408240281 | JAG1 | c.557C>G (p.Thr186Ser) n.423C>G | |
| 20 | g.10658605G>T | CA408240278 | JAG1 | c.557C>A (p.Thr186Asn) n.423C>A | |
| 20 | g.10658606T>A | CA408240283 | JAG1 | c.556A>T (p.Thr186Ser) n.422A>T | |
| 20 | g.10658606T>C | CA408240285 | JAG1 | c.556A>G (p.Thr186Ala) n.422A>G | |
| 20 | g.10658606T>G | CA408240286 | JAG1 | c.556A>C (p.Thr186Pro) n.422A>C | |
| 20 | g.10658607C>A | CA509816569 | JAG1 | c.555G>T (p.Val185=) n.421G>T | dbSNP |
| 20 | g.10658607C= | CA2349888419 | JAG1 | c.555G= (p.Val185=) n.421G= | |
| 20 | g.10658607C>G | CA509816570 | JAG1 | c.555G>C (p.Val185=) n.421G>C | |
| 20 | g.10658607C>T | CA509816571 | JAG1 | c.555G>A (p.Val185=) n.421G>A | |
| 20 | g.10658608_10658609del | CA645613327 | JAG1 | c.554_555del (p.Val185AspfsTer3) n.420_421del | COSMIC COSMIC |
| 20 | g.10658608A= | CA2349888420 | JAG1 | c.554T= (p.Val185=) n.420T= | |
| 20 | g.10658608A>C | CA408240288 | JAG1 | c.554T>G (p.Val185Gly) n.420T>G | |
| 20 | g.10658608A>G | CA408240290 | JAG1 | c.554T>C (p.Val185Ala) n.420T>C | |
| 20 | g.10658608A>T | CA408240292 | JAG1 | c.554T>A (p.Val185Glu) n.420T>A | ClinVar dbSNP |
| 20 | g.10658609C>A | CA408240293 | JAG1 | c.553G>T (p.Val185Leu) n.419G>T | |
| 20 | g.10658609C>G | CA408240294 | JAG1 | c.553G>C (p.Val185Leu) n.419G>C | |
| 20 | g.10658609C>T | CA408240296 | JAG1 | c.553G>A (p.Val185Met) n.419G>A | |
| 20 | g.10658610G>A | CA9765109 | JAG1 | c.552C>T (p.Arg184=) n.418C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658610G>C | CA509816572 | JAG1 | c.552C>G (p.Arg184=) n.418C>G | |
| 20 | g.10658610G= | CA2349888421 | JAG1 | c.552C= (p.Arg184=) n.418C= | |
| 20 | g.10658610G>T | CA509816573 | JAG1 | c.552C>A (p.Arg184=) n.418C>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.10658611C>A | CA408240299 | JAG1 | c.551G>T (p.Arg184Leu) n.417G>T | |
| 20 | g.10658611C= | CA2349888422 | JAG1 | c.551G= (p.Arg184=) n.417G= | |
| 20 | g.10658611C>G | CA408240300 | JAG1 | c.551G>C (p.Arg184Pro) n.417G>C | |
| 20 | g.10658611C>T | CA254223 | JAG1 | c.551G>A (p.Arg184His) n.417G>A | ClinVar dbSNP COSMIC COSMIC |
| 20 | g.10658612G>A | CA254222 | JAG1 | c.550C>T (p.Arg184Cys) n.416C>T | ClinVar dbSNP gnomAD v4 |
| 20 | g.10658612G>C | CA408240305 | JAG1 | c.550C>G (p.Arg184Gly) n.416C>G | |
| 20 | g.10658612G= | CA2349888423 | JAG1 | c.550C= (p.Arg184=) n.416C= | |
| 20 | g.10658612G>T | CA408240303 | JAG1 | c.550C>A (p.Arg184Ser) n.416C>A | |
| 20 | g.10658613G>A | CA509816574 | JAG1 | c.549C>T (p.Ile183=) n.415C>T | |
| 20 | g.10658613G>C | CA408240307 | JAG1 | c.549C>G (p.Ile183Met) n.415C>G | |
| 20 | g.10658613G>T | CA509816575 | JAG1 | c.549C>A (p.Ile183=) n.415C>A | gnomAD v4 |
| 20 | g.10658614A>C | CA408240309 | JAG1 | c.548T>G (p.Ile183Ser) n.414T>G | |
| 20 | g.10658614A>G | CA408240310 | JAG1 | c.548T>C (p.Ile183Thr) n.414T>C | |
| 20 | g.10658614A>T | CA408240311 | JAG1 | c.548T>A (p.Ile183Asn) n.414T>A | |
| 20 | g.10658615T>A | CA311351526 | JAG1 | c.547A>T (p.Ile183Phe) n.413A>T | dbSNP |
| 20 | g.10658615T>C | CA408240312 | JAG1 | c.547A>G (p.Ile183Val) n.413A>G | |
| 20 | g.10658615T>G | CA408240313 | JAG1 | c.547A>C (p.Ile183Leu) n.413A>C | |
| 20 | g.10658615T= | CA2349888424 | JAG1 | c.547A= (p.Ile183=) n.413A= | |
| 20 | g.10658616C>A | CA408240315 | JAG1 | c.546G>T (p.Gln182His) n.412G>T | |
| 20 | g.10658616C>G | CA408240317 | JAG1 | c.546G>C (p.Gln182His) n.412G>C | ClinVar dbSNP |
| 20 | g.10658616C>T | CA509816576 | JAG1 | c.546G>A (p.Gln182=) n.412G>A | |
| 20 | g.10658617T>A | CA408240319 | JAG1 | c.545A>T (p.Gln182Leu) n.411A>T | gnomAD v4 |
| 20 | g.10658617T>C | CA408240320 | JAG1 | c.545A>G (p.Gln182Arg) n.411A>G | ClinVar |
| 20 | g.10658617T>G | CA408240322 | JAG1 | c.545A>C (p.Gln182Pro) n.411A>C | |
| 20 | g.10658618G>A | CA320391 | JAG1 | c.544C>T (p.Gln182Ter) n.410C>T | ClinVar dbSNP COSMIC COSMIC |
| 20 | g.10658618G>C | CA408240324 | JAG1 | c.544C>G (p.Gln182Glu) n.410C>G | |
| 20 | g.10658618G= | CA2349888425 | JAG1 | c.544C= (p.Gln182=) n.410C= | |
| 20 | g.10658618G>T | CA408240325 | JAG1 | c.544C>A (p.Gln182Lys) n.410C>A | |
| 20 | g.10658619A= | CA2349888426 | JAG1 | c.543T= (p.Tyr181=) n.409T= | |
| 20 | g.10658619A>C | CA408240327 | JAG1 | c.543T>G (p.Tyr181Ter) n.409T>G | |
| 20 | g.10658619A>G | CA509816577 | JAG1 | c.543T>C (p.Tyr181=) n.409T>C | |
| 20 | g.10658619A>T | CA16616456 | JAG1 | c.543T>A (p.Tyr181Ter) n.409T>A | ClinVar dbSNP |
| 20 | g.10658620T>A | CA408240329 | JAG1 | c.542A>T (p.Tyr181Phe) n.408A>T | |
| 20 | g.10658620T>C | CA408240330 | JAG1 | c.542A>G (p.Tyr181Cys) n.408A>G | gnomAD v4 |
| 20 | g.10658620T>G | CA408240332 | JAG1 | c.542A>C (p.Tyr181Ser) n.408A>C | |
| 20 | g.10658621A>C | CA408240334 | JAG1 | c.541T>G (p.Tyr181Asp) n.407T>G | |
| 20 | g.10658621A>G | CA408240336 | JAG1 | c.541T>C (p.Tyr181His) n.407T>C | |
| 20 | g.10658621A>T | CA408240337 | JAG1 | c.541T>A (p.Tyr181Asn) n.407T>A | |
| 20 | g.10658622C>A | CA408240338 | JAG1 | c.540G>T (p.Glu180Asp) n.406G>T | |
| 20 | g.10658622C>G | CA408240340 | JAG1 | c.540G>C (p.Glu180Asp) n.406G>C | |
| 20 | g.10658622C>T | CA509816578 | JAG1 | c.540G>A (p.Glu180=) n.406G>A | |
| 20 | g.10658623T>A | CA408240342 | JAG1 | c.539A>T (p.Glu180Val) n.405A>T | |
| 20 | g.10658623T>C | CA408240343 | JAG1 | c.539A>G (p.Glu180Gly) n.405A>G | |
| 20 | g.10658623T>G | CA408240345 | JAG1 | c.539A>C (p.Glu180Ala) n.405A>C | |
| 20 | g.10658624C>A | CA408240346 | JAG1 | c.538G>T (p.Glu180Ter) n.404G>T | |
| 20 | g.10658624C= | CA2349888427 | JAG1 | c.538G= (p.Glu180=) n.404G= | |
| 20 | g.10658624C>G | CA408240348 | JAG1 | c.538G>C (p.Glu180Gln) n.404G>C | |
| 20 | g.10658624C>T | CA408240350 | JAG1 | c.538G>A (p.Glu180Lys) n.404G>A | |
| 20 | g.10658625A= | CA2349888428 | JAG1 | c.537T= (p.Phe179=) n.403T= | |
| 20 | g.10658625A>C | CA408240354 | JAG1 | c.537T>G (p.Phe179Leu) n.403T>G | |
| 20 | g.10658625A>G | CA509816579 | JAG1 | c.537T>C (p.Phe179=) n.403T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658625A>T | CA408240352 | JAG1 | c.537T>A (p.Phe179Leu) n.403T>A | |
| 20 | g.10658627dup | CA320746 | JAG1 | c.537dup (p.Glu180Ter) n.403dup | ClinVar dbSNP |
| 20 | g.10658626A>C | CA408240356 | JAG1 | c.536T>G (p.Phe179Cys) n.402T>G | |
| 20 | g.10658626A>G | CA408240357 | JAG1 | c.536T>C (p.Phe179Ser) n.402T>C | |
| 20 | g.10658626A>T | CA408240359 | JAG1 | c.536T>A (p.Phe179Tyr) n.402T>A | |
| 20 | g.10658627A>C | CA408240360 | JAG1 | c.535T>G (p.Phe179Val) n.401T>G | |
| 20 | g.10658627A>G | CA408240362 | JAG1 | c.535T>C (p.Phe179Leu) n.401T>C | |
| 20 | g.10658627A>T | CA408240363 | JAG1 | c.535T>A (p.Phe179Ile) n.401T>A | |
| 20 | g.10658628G>A | CA509816580 | JAG1 | c.534C>T (p.His178=) n.400C>T | |
| 20 | g.10658628G>C | CA408240364 | JAG1 | c.534C>G (p.His178Gln) n.400C>G | |
| 20 | g.10658628G>T | CA408240366 | JAG1 | c.534C>A (p.His178Gln) n.400C>A | |
| 20 | g.10658629T>A | CA408240368 | JAG1 | c.533A>T (p.His178Leu) n.399A>T | |
| 20 | g.10658629T>C | CA408240369 | JAG1 | c.533A>G (p.His178Arg) n.399A>G | |
| 20 | g.10658629T>G | CA408240371 | JAG1 | c.533A>C (p.His178Pro) n.399A>C | |
| 20 | g.10658629_10658630delinsTG | CA2349888429 | JAG1 | c.532_533delinsCA (p.His178=) n.398_399delinsCA | |
| 20 | g.10658630G>A | CA408240372 | JAG1 | c.532C>T (p.His178Tyr) n.398C>T | |
| 20 | g.10658630G>C | CA408240373 | JAG1 | c.532C>G (p.His178Asp) n.398C>G | |
| 20 | g.10658630G>T | CA408240375 | JAG1 | c.532C>A (p.His178Asn) n.398C>A | |
| 20 | g.10658632del | CA916083751 | JAG1 | c.532del (p.His178ThrfsTer8) n.398del | ClinVar dbSNP |
| 20 | g.10658631G>A | CA509816581 | JAG1 | c.531C>T (p.Ala177=) n.397C>T | dbSNP |
| 20 | g.10658631G>C | CA509816582 | JAG1 | c.531C>G (p.Ala177=) n.397C>G | |
| 20 | g.10658631G= | CA2349888430 | JAG1 | c.531C= (p.Ala177=) n.397C= | |
| 20 | g.10658631G>T | CA509816583 | JAG1 | c.531C>A (p.Ala177=) n.397C>A | |
| 20 | g.10658632G>A | CA408240380 | JAG1 | c.530C>T (p.Ala177Val) n.396C>T | |
| 20 | g.10658632G>C | CA408240379 | JAG1 | c.530C>G (p.Ala177Gly) n.396C>G | |
| 20 | g.10658632G>T | CA408240377 | JAG1 | c.530C>A (p.Ala177Asp) n.396C>A | |
| 20 | g.10658633C>A | CA408240382 | JAG1 | c.529G>T (p.Ala177Ser) n.395G>T | |
| 20 | g.10658633C>G | CA408240384 | JAG1 | c.529G>C (p.Ala177Pro) n.395G>C | |
| 20 | g.10658633C>T | CA408240385 | JAG1 | c.529G>A (p.Ala177Thr) n.395G>A | |
| 20 | g.10658634A= | CA2349888431 | JAG1 | c.528T= (p.Val176=) n.394T= | |
| 20 | g.10658634A>C | CA9765110 | JAG1 | c.528T>G (p.Val176=) n.394T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10658634A>G | CA509816584 | JAG1 | c.528T>C (p.Val176=) n.394T>C | |
| 20 | g.10658634A>T | CA509816585 | JAG1 | c.528T>A (p.Val176=) n.394T>A | |
| 20 | g.10658635A= | CA2349888432 | JAG1 | c.527T= (p.Val176=) n.393T= | |
| 20 | g.10658635A>C | CA408240387 | JAG1 | c.527T>G (p.Val176Gly) n.393T>G | |
| 20 | g.10658635A>G | CA9765111 | JAG1 | c.527T>C (p.Val176Ala) n.393T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10658635A>T | CA408240390 | JAG1 | c.527T>A (p.Val176Asp) n.393T>A | |
| 20 | g.10658636C>A | CA408240391 | JAG1 | c.526G>T (p.Val176Phe) n.392G>T | gnomAD v4 |
| 20 | g.10658636C= | CA2349888433 | JAG1 | c.526G= (p.Val176=) n.392G= | |
| 20 | g.10658636C>G | CA408240394 | JAG1 | c.526G>C (p.Val176Leu) n.392G>C | |
| 20 | g.10658636C>T | CA9765112 | JAG1 | c.526G>A (p.Val176Ile) n.392G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.10658637G>A | CA9765113 | JAG1 | c.525C>T (p.Gly175=) n.391C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658637G>C | CA509816586 | JAG1 | c.525C>G (p.Gly175=) n.391C>G | |
| 20 | g.10658637G= | CA2349888434 | JAG1 | c.525C= (p.Gly175=) n.391C= | |
| 20 | g.10658637G>T | CA509816587 | JAG1 | c.525C>A (p.Gly175=) n.391C>A | |
| 20 | g.10658638C>A | CA408240396 | JAG1 | c.524G>T (p.Gly175Val) n.390G>T | ClinVar dbSNP |
| 20 | g.10658638C>G | CA408240397 | JAG1 | c.524G>C (p.Gly175Ala) n.390G>C | |
| 20 | g.10658638C>T | CA408240398 | JAG1 | c.524G>A (p.Gly175Asp) n.390G>A | |
| 20 | g.10658639C>A | CA408240403 | JAG1 | c.523G>T (p.Gly175Cys) n.389G>T | |
| 20 | g.10658639C>G | CA408240401 | JAG1 | c.523G>C (p.Gly175Arg) n.389G>C | |
| 20 | g.10658639C>T | CA408240402 | JAG1 | c.523G>A (p.Gly175Ser) n.389G>A | gnomAD v4 |
| 20 | g.10658640C>A | CA509816588 | JAG1 | c.522G>T (p.Thr174=) n.388G>T | |
| 20 | g.10658640C= | CA2349888435 | JAG1 | c.522G= (p.Thr174=) n.388G= | |
| 20 | g.10658640C>G | CA509816589 | JAG1 | c.522G>C (p.Thr174=) n.388G>C | ClinVar gnomAD v4 |
| 20 | g.10658640C>T | CA9765114 | JAG1 | c.522G>A (p.Thr174=) n.388G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658641G>A | CA9765115 | JAG1 | c.521C>T (p.Thr174Met) n.387C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658641G>C | CA408240407 | JAG1 | c.521C>G (p.Thr174Arg) n.387C>G | |
| 20 | g.10658641G= | CA2349888436 | JAG1 | c.521C= (p.Thr174=) n.387C= | |
| 20 | g.10658641G>T | CA408240408 | JAG1 | c.521C>A (p.Thr174Lys) n.387C>A | |
| 20 | g.10658641_10658644dup | CA2695229556 | JAG1 | c.518_521dup (p.Gly175HisfsTer7) n.384_387dup | |
| 20 | g.10658642T>A | CA408240410 | JAG1 | c.520A>T (p.Thr174Ser) n.386A>T | |
| 20 | g.10658642T>C | CA408240412 | JAG1 | c.520A>G (p.Thr174Ala) n.386A>G | |
| 20 | g.10658642T>G | CA408240413 | JAG1 | c.520A>C (p.Thr174Pro) n.386A>C | |
| 20 | g.10658643G>A | CA509816590 | JAG1 | c.519C>T (p.Asn173=) n.385C>T | dbSNP gnomAD v2 COSMIC COSMIC |
| 20 | g.10658643G>C | CA408240415 | JAG1 | c.519C>G (p.Asn173Lys) n.385C>G | |
| 20 | g.10658643G= | CA2349888437 | JAG1 | c.519C= (p.Asn173=) n.385C= | |
| 20 | g.10658643G>T | CA408240417 | JAG1 | c.519C>A (p.Asn173Lys) n.385C>A | |
| 20 | g.10658644T>A | CA408240418 | JAG1 | c.518A>T (p.Asn173Ile) n.384A>T | |
| 20 | g.10658644T>C | CA408240420 | JAG1 | c.518A>G (p.Asn173Ser) n.384A>G | |
| 20 | g.10658644T>G | CA408240421 | JAG1 | c.518A>C (p.Asn173Thr) n.384A>C | gnomAD v4 |
| 20 | g.10658645T>A | CA408240426 | JAG1 | c.517A>T (p.Asn173Tyr) n.383A>T | |
| 20 | g.10658645T>C | CA408240423 | JAG1 | c.517A>G (p.Asn173Asp) n.383A>G | |
| 20 | g.10658645T>G | CA408240425 | JAG1 | c.517A>C (p.Asn173His) n.383A>C | |
| 20 | g.10658646C>A | CA408240428 | JAG1 | c.516G>T (p.Gln172His) n.382G>T | |
| 20 | g.10658646C= | CA2349888438 | JAG1 | c.516G= (p.Gln172=) n.382G= | |
| 20 | g.10658646C>G | CA9765116 | JAG1 | c.516G>C (p.Gln172His) n.382G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10658646C>T | CA509816591 | JAG1 | c.516G>A (p.Gln172=) n.382G>A | COSMIC COSMIC |
| 20 | g.10658647T>A | CA408240430 | JAG1 | c.515A>T (p.Gln172Leu) n.381A>T | |
| 20 | g.10658647T>C | CA408240431 | JAG1 | c.515A>G (p.Gln172Arg) n.381A>G | |
| 20 | g.10658647T>G | CA408240432 | JAG1 | c.515A>C (p.Gln172Pro) n.381A>C | |
| 20 | g.10658648G>A | CA408240433 | JAG1 | c.514C>T (p.Gln172Ter) n.380C>T | ClinVar |
| 20 | g.10658648G>C | CA408240435 | JAG1 | c.514C>G (p.Gln172Glu) n.380C>G | |
| 20 | g.10658648G>T | CA408240437 | JAG1 | c.514C>A (p.Gln172Lys) n.380C>A | |
| 20 | g.10658650_10658655del | CA645613328 | JAG1 | c.509_514del (p.Leu170_Lys171del) n.375_380del | COSMIC COSMIC |
| 20 | g.10658649C>A | CA408240438 | JAG1 | c.513G>T (p.Lys171Asn) n.379G>T | |
| 20 | g.10658649C= | CA2349888439 | JAG1 | c.513G= (p.Lys171=) n.379G= | |
| 20 | g.10658649C>G | CA408240439 | JAG1 | c.513G>C (p.Lys171Asn) n.379G>C | |
| 20 | g.10658649C>T | CA509816592 | JAG1 | c.513G>A (p.Lys171=) n.379G>A | ClinVar dbSNP |
| 20 | g.10658650T>A | CA408240442 | JAG1 | c.512A>T (p.Lys171Met) n.378A>T | |
| 20 | g.10658650T>C | CA408240443 | JAG1 | c.512A>G (p.Lys171Arg) n.378A>G | |
| 20 | g.10658650T>G | CA408240445 | JAG1 | c.512A>C (p.Lys171Thr) n.378A>C | |
| 20 | g.10658651T>A | CA408240450 | JAG1 | c.511A>T (p.Lys171Ter) n.377A>T | |
| 20 | g.10658651T>C | CA408240449 | JAG1 | c.511A>G (p.Lys171Glu) n.377A>G | |
| 20 | g.10658651T>G | CA408240447 | JAG1 | c.511A>C (p.Lys171Gln) n.377A>C | |
| 20 | g.10658652C>A | CA509816593 | JAG1 | c.510G>T (p.Leu170=) n.376G>T | |
| 20 | g.10658652C= | CA2349888440 | JAG1 | c.510G= (p.Leu170=) n.376G= | |
| 20 | g.10658652C>G | CA509816594 | JAG1 | c.510G>C (p.Leu170=) n.376G>C | |
| 20 | g.10658652C>T | CA509816595 | JAG1 | c.510G>A (p.Leu170=) n.376G>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10658653del | CA2695229557 | JAG1 | c.509del (p.Leu170ArgfsTer16) n.375del | |
| 20 | g.10658653A>C | CA408240451 | JAG1 | c.509T>G (p.Leu170Arg) n.375T>G | |
| 20 | g.10658653A>G | CA408240453 | JAG1 | c.509T>C (p.Leu170Pro) n.375T>C | |
| 20 | g.10658653A>T | CA408240455 | JAG1 | c.509T>A (p.Leu170Gln) n.375T>A | |
| 20 | g.10658654G>A | CA509816596 | JAG1 | c.508C>T (p.Leu170=) n.374C>T | |
| 20 | g.10658654G>C | CA408240457 | JAG1 | c.508C>G (p.Leu170Val) n.374C>G | |
| 20 | g.10658654G>T | CA408240458 | JAG1 | c.508C>A (p.Leu170Met) n.374C>A | |
| 20 | g.10658655C>A | CA509816597 | JAG1 | c.507G>T (p.Thr169=) n.373G>T | gnomAD v4 |
| 20 | g.10658655C= | CA2349888441 | JAG1 | c.507G= (p.Thr169=) n.373G= | |
| 20 | g.10658655C>G | CA509816598 | JAG1 | c.507G>C (p.Thr169=) n.373G>C | |
| 20 | g.10658655C>T | CA311351541 | JAG1 | c.507G>A (p.Thr169=) n.373G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658656G>A | CA9765117 | JAG1 | c.506C>T (p.Thr169Met) n.372C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.10658656G>C | CA408240461 | JAG1 | c.506C>G (p.Thr169Arg) n.372C>G | dbSNP |
| 20 | g.10658656G= | CA2349888442 | JAG1 | c.506C= (p.Thr169=) n.372C= | |
| 20 | g.10658656G>T | CA408240463 | JAG1 | c.506C>A (p.Thr169Lys) n.372C>A | |
| 20 | g.10658657T>A | CA408240464 | JAG1 | c.505A>T (p.Thr169Ser) n.371A>T | |
| 20 | g.10658657T>C | CA408240465 | JAG1 | c.505A>G (p.Thr169Ala) n.371A>G | ClinVar |
| 20 | g.10658657T>G | CA408240466 | JAG1 | c.505A>C (p.Thr169Pro) n.371A>C | |
| 20 | g.10658658C>A | CA408240468 | JAG1 | c.504G>T (p.Gln168His) n.370G>T | |
| 20 | g.10658658C= | CA2349888443 | JAG1 | c.504G= (p.Gln168=) n.370G= | |
| 20 | g.10658658C>G | CA408240469 | JAG1 | c.504G>C (p.Gln168His) n.370G>C | |
| 20 | g.10658658C>T | CA509816599 | JAG1 | c.504G>A (p.Gln168=) n.370G>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.10658659T>A | CA408240473 | JAG1 | c.503A>T (p.Gln168Leu) n.369A>T | |
| 20 | g.10658659T>C | CA408240472 | JAG1 | c.503A>G (p.Gln168Arg) n.369A>G | |
| 20 | g.10658659T>G | CA408240471 | JAG1 | c.503A>C (p.Gln168Pro) n.369A>C | |
| 20 | g.10658660G>A | CA408240479 | JAG1 | c.502C>T (p.Gln168Ter) n.368C>T | |
| 20 | g.10658660G>C | CA408240475 | JAG1 | c.502C>G (p.Gln168Glu) n.368C>G | |
| 20 | g.10658660G>T | CA408240477 | JAG1 | c.502C>A (p.Gln168Lys) n.368C>A | |
| 20 | g.10658661C>A | CA408240480 | JAG1 | c.501G>T (p.Trp167Cys) n.367G>T | |
| 20 | g.10658661C>G | CA408240481 | JAG1 | c.501G>C (p.Trp167Cys) n.367G>C | |
| 20 | g.10658661C>T | CA408240483 | JAG1 | c.501G>A (p.Trp167Ter) n.367G>A | |
| 20 | g.10658662C>A | CA408240488 | JAG1 | c.500G>T (p.Trp167Leu) n.366G>T | |
| 20 | g.10658662C= | CA2349888444 | JAG1 | c.500G= (p.Trp167=) n.366G= | |
| 20 | g.10658662C>G | CA408240487 | JAG1 | c.500G>C (p.Trp167Ser) n.366G>C | |
| 20 | g.10658662C>T | CA408240485 | JAG1 | c.500G>A (p.Trp167Ter) n.366G>A | ClinVar dbSNP |
| 20 | g.10658663A= | CA2349888445 | JAG1 | c.499T= (p.Trp167=) n.365T= | |
| 20 | g.10658663A>C | CA408240491 | JAG1 | c.499T>G (p.Trp167Gly) n.365T>G | |
| 20 | g.10658663A>G | CA408240492 | JAG1 | c.499T>C (p.Trp167Arg) n.365T>C | ClinVar dbSNP |
| 20 | g.10658663A>T | CA408240494 | JAG1 | c.499T>A (p.Trp167Arg) n.365T>A | |
| 20 | g.10658664C>A | CA408240495 | JAG1 | c.498G>T (p.Gln166His) n.364G>T | |
| 20 | g.10658664C= | CA2349888446 | JAG1 | c.498G= (p.Gln166=) n.364G= | |
| 20 | g.10658664C>G | CA408240497 | JAG1 | c.498G>C (p.Gln166His) n.364G>C | |
| 20 | g.10658664C>T | CA9765118 | JAG1 | c.498G>A (p.Gln166=) n.364G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10658665T>A | CA408240499 | JAG1 | c.497A>T (p.Gln166Leu) n.363A>T | |
| 20 | g.10658665T>C | CA408240503 | JAG1 | c.497A>G (p.Gln166Arg) n.363A>G | gnomAD v4 |
| 20 | g.10658665T>G | CA408240501 | JAG1 | c.497A>C (p.Gln166Pro) n.363A>C | |
| 20 | g.10658666G>A | CA408240505 | JAG1 | c.496C>T (p.Gln166Ter) n.362C>T | ClinVar |
| 20 | g.10658666G>C | CA408240506 | JAG1 | c.496C>G (p.Gln166Glu) n.362C>G | |
| 20 | g.10658666G>T | CA408240508 | JAG1 | c.496C>A (p.Gln166Lys) n.362C>A | |
| 20 | g.10658667C>A | CA509816601 | JAG1 | c.495G>T (p.Arg165=) n.361G>T | ClinVar gnomAD v4 |
| 20 | g.10658667C>G | CA509816602 | JAG1 | c.495G>C (p.Arg165=) n.361G>C | |
| 20 | g.10658667C>T | CA509816603 | JAG1 | c.495G>A (p.Arg165=) n.361G>A | |
| 20 | g.10658668C>A | CA408240510 | JAG1 | c.494G>T (p.Arg165Leu) n.360G>T | |
| 20 | g.10658668C= | CA2349888447 | JAG1 | c.494G= (p.Arg165=) n.360G= | |
| 20 | g.10658668C>G | CA408240512 | JAG1 | c.494G>C (p.Arg165Pro) n.360G>C | |
| 20 | g.10658668C>T | CA9765119 | JAG1 | c.494G>A (p.Arg165Gln) n.360G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658669G>A | CA311351558 | JAG1 | c.493C>T (p.Arg165Trp) n.359C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658669G>C | CA408240514 | JAG1 | c.493C>G (p.Arg165Gly) n.359C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658669G= | CA2349888448 | JAG1 | c.493C= (p.Arg165=) n.359C= | |
| 20 | g.10658669G>T | CA9765120 | JAG1 | c.493C>A (p.Arg165=) n.359C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658670G>A | CA509816607 | JAG1 | c.492C>T (p.Ser164=) n.358C>T | |
| 20 | g.10658670G>C | CA408240517 | JAG1 | c.492C>G (p.Ser164Arg) n.358C>G | |
| 20 | g.10658670G>T | CA408240518 | JAG1 | c.492C>A (p.Ser164Arg) n.358C>A |