Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |