| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.10658561G>A | CA245082 | JAG1 | c.601C>T (p.Arg201Cys) n.467C>T | ClinVar dbSNP gnomAD v4 |
| 20 | g.10658561G>C | CA408240106 | JAG1 | c.601C>G (p.Arg201Gly) n.467C>G | gnomAD v4 |
| 20 | g.10658561G= | CA2349888406 | JAG1 | c.601C= (p.Arg201=) n.467C= | |
| 20 | g.10658561G>T | CA408240107 | JAG1 | c.601C>A (p.Arg201Ser) n.467C>A | |
| 20 | g.10658562G>A | CA509816432 | JAG1 | c.600C>T (p.Cys200=) n.466C>T | |
| 20 | g.10658562G>C | CA408240108 | JAG1 | c.600C>G (p.Cys200Trp) n.466C>G | |
| 20 | g.10658562G>T | CA408240109 | JAG1 | c.600C>A (p.Cys200Ter) n.466C>A | COSMIC |
| 20 | g.10658563C>A | CA408240113 | JAG1 | c.599G>T (p.Cys200Phe) n.465G>T | |
| 20 | g.10658563C>G | CA408240112 | JAG1 | c.599G>C (p.Cys200Ser) n.465G>C | |
| 20 | g.10658563C>T | CA408240110 | JAG1 | c.599G>A (p.Cys200Tyr) n.465G>A | |
| 20 | g.10658564A>C | CA408240114 | JAG1 | c.598T>G (p.Cys200Gly) n.464T>G | |
| 20 | g.10658564A>G | CA408240115 | JAG1 | c.598T>C (p.Cys200Arg) n.464T>C | |
| 20 | g.10658564A>T | CA408240117 | JAG1 | c.598T>A (p.Cys200Ser) n.464T>A | |
| 20 | g.10658565G>A | CA509816433 | JAG1 | c.597C>T (p.Phe199=) n.463C>T | |
| 20 | g.10658565G>C | CA408240118 | JAG1 | c.597C>G (p.Phe199Leu) n.463C>G | |
| 20 | g.10658565G>T | CA408240119 | JAG1 | c.597C>A (p.Phe199Leu) n.463C>A | gnomAD v4 |
| 20 | g.10658566A>C | CA408240121 | JAG1 | c.596T>G (p.Phe199Cys) n.462T>G | |
| 20 | g.10658566A>G | CA408240123 | JAG1 | c.596T>C (p.Phe199Ser) n.462T>C | |
| 20 | g.10658566A>T | CA408240125 | JAG1 | c.596T>A (p.Phe199Tyr) n.462T>A | |
| 20 | g.10658567del | CA2695201377 | JAG1 | c.596del (p.Phe199SerfsTer?) n.462del | |
| 20 | g.10658567A>C | CA408240126 | JAG1 | c.595T>G (p.Phe199Val) n.461T>G | |
| 20 | g.10658567A>G | CA408240127 | JAG1 | c.595T>C (p.Phe199Leu) n.461T>C | |
| 20 | g.10658567A>T | CA408240129 | JAG1 | c.595T>A (p.Phe199Ile) n.461T>A | |
| 20 | g.10658568C>A | CA408240130 | JAG1 | c.594G>T (p.Lys198Asn) n.460G>T | |
| 20 | g.10658568C>G | CA408240131 | JAG1 | c.594G>C (p.Lys198Asn) n.460G>C | |
| 20 | g.10658568C>T | CA509816443 | JAG1 | c.594G>A (p.Lys198=) n.460G>A | |
| 20 | g.10658569T>A | CA408240135 | JAG1 | c.593A>T (p.Lys198Met) n.459A>T | |
| 20 | g.10658569T>C | CA408240137 | JAG1 | c.593A>G (p.Lys198Arg) n.459A>G | |
| 20 | g.10658569T>G | CA408240133 | JAG1 | c.593A>C (p.Lys198Thr) n.459A>C | |
| 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 | |
| 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 |