UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.10658533T>A | CA408240039 | JAG1 | c.629A>T (p.Tyr210Phe) n.495A>T | |
| 20 | g.10658533T>C | CA408240040 | JAG1 | c.629A>G (p.Tyr210Cys) n.495A>G | |
| 20 | g.10658533T>G | CA408240041 | JAG1 | c.629A>C (p.Tyr210Ser) n.495A>C | |
| 20 | g.10658534A>C | CA408240042 | JAG1 | c.628T>G (p.Tyr210Asp) n.494T>G | |
| 20 | g.10658534A>G | CA408240043 | JAG1 | c.628T>C (p.Tyr210His) n.494T>C | |
| 20 | g.10658534A>T | CA408240044 | JAG1 | c.628T>A (p.Tyr210Asn) n.494T>A | |
| 20 | g.10658535G>A | CA509816410 | JAG1 | c.627C>T (p.His209=) n.493C>T | dbSNP |
| 20 | g.10658535G>C | CA408240046 | JAG1 | c.627C>G (p.His209Gln) n.493C>G | |
| 20 | g.10658535G= | CA2349888400 | JAG1 | c.627C= (p.His209=) n.493C= | |
| 20 | g.10658535G>T | CA408240045 | JAG1 | c.627C>A (p.His209Gln) n.493C>A | ClinVar |
| 20 | g.10658536T>A | CA408240047 | JAG1 | c.626A>T (p.His209Leu) n.492A>T | |
| 20 | g.10658536T>C | CA321985 | JAG1 | c.626A>G (p.His209Arg) n.492A>G | ClinVar dbSNP gnomAD v4 |
| 20 | g.10658536T>G | CA408240048 | JAG1 | c.626A>C (p.His209Pro) n.492A>C | |
| 20 | g.10658536T= | CA2349888401 | JAG1 | c.626A= (p.His209=) n.492A= | |
| 20 | g.10658537del | CA2695229554 | JAG1 | c.625del (p.His209ThrfsTer?) n.491del | |
| 20 | g.10658537G>A | CA408240049 | JAG1 | c.625C>T (p.His209Tyr) n.491C>T | |
| 20 | g.10658537G>C | CA408240050 | JAG1 | c.625C>G (p.His209Asp) n.491C>G | |
| 20 | g.10658537G>T | CA408240051 | JAG1 | c.625C>A (p.His209Asn) n.491C>A | |
| 20 | g.10658538T>A | CA509816412 | JAG1 | c.624A>T (p.Gly208=) n.490A>T | |
| 20 | g.10658538T>C | CA509816413 | JAG1 | c.624A>G (p.Gly208=) n.490A>G | gnomAD v4 |
| 20 | g.10658538T>G | CA509816414 | JAG1 | c.624A>C (p.Gly208=) n.490A>C | |
| 20 | g.10658539C>A | CA408240052 | JAG1 | c.623G>T (p.Gly208Val) n.489G>T | |
| 20 | g.10658539C>G | CA408240054 | JAG1 | c.623G>C (p.Gly208Ala) n.489G>C | |
| 20 | g.10658539C>T | CA408240053 | JAG1 | c.623G>A (p.Gly208Glu) n.489G>A | |
| 20 | g.10658540C>A | CA408240055 | JAG1 | c.622G>T (p.Gly208Ter) n.488G>T | ClinVar dbSNP |
| 20 | g.10658540C>G | CA408240056 | JAG1 | c.622G>C (p.Gly208Arg) n.488G>C | |
| 20 | g.10658540C>T | CA408240057 | JAG1 | c.622G>A (p.Gly208Arg) n.488G>A | |
| 20 | g.10658541A>C | CA408240058 | JAG1 | c.621T>G (p.Phe207Leu) n.487T>G | |
| 20 | g.10658541A>G | CA509816416 | JAG1 | c.621T>C (p.Phe207=) n.487T>C | |
| 20 | g.10658541A>T | CA408240059 | JAG1 | c.621T>A (p.Phe207Leu) n.487T>A | |
| 20 | g.10658542A>C | CA408240060 | JAG1 | c.620T>G (p.Phe207Cys) n.486T>G | |
| 20 | g.10658542A>G | CA408240061 | JAG1 | c.620T>C (p.Phe207Ser) n.486T>C | gnomAD v4 |
| 20 | g.10658542A>T | CA408240062 | JAG1 | c.620T>A (p.Phe207Tyr) n.486T>A | |
| 20 | g.10658543A>C | CA408240063 | JAG1 | c.619T>G (p.Phe207Val) n.485T>G | |
| 20 | g.10658543A>G | CA408240064 | JAG1 | c.619T>C (p.Phe207Leu) n.485T>C | |
| 20 | g.10658543A>T | CA408240065 | JAG1 | c.619T>A (p.Phe207Ile) n.485T>A | gnomAD v4 |
| 20 | g.10658544G>A | CA509816419 | JAG1 | c.618C>T (p.Phe206=) n.484C>T | |
| 20 | g.10658544G>C | CA408240066 | JAG1 | c.618C>G (p.Phe206Leu) n.484C>G | |
| 20 | g.10658544G>T | CA408240067 | JAG1 | c.618C>A (p.Phe206Leu) n.484C>A | |
| 20 | g.10658545A= | CA2349888402 | JAG1 | c.617T= (p.Phe206=) n.483T= | |
| 20 | g.10658545A>C | CA408240068 | JAG1 | c.617T>G (p.Phe206Cys) n.483T>G | |
| 20 | g.10658545A>G | CA408240069 | JAG1 | c.617T>C (p.Phe206Ser) n.483T>C | |
| 20 | g.10658545A>T | CA408240070 | JAG1 | c.617T>A (p.Phe206Tyr) n.483T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658546A= | CA2349888403 | JAG1 | c.616T= (p.Phe206=) n.482T= | |
| 20 | g.10658546A>C | CA408240071 | JAG1 | c.616T>G (p.Phe206Val) n.482T>G | |
| 20 | g.10658546A>G | CA408240072 | JAG1 | c.616T>C (p.Phe206Leu) n.482T>C | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.10658546A>T | CA408240073 | JAG1 | c.616T>A (p.Phe206Ile) n.482T>A | |
| 20 | g.10658547G>A | CA509816421 | JAG1 | c.615C>T (p.Asp205=) n.481C>T | |
| 20 | g.10658547G>C | CA408240074 | JAG1 | c.615C>G (p.Asp205Glu) n.481C>G | |
| 20 | g.10658547G>T | CA408240075 | JAG1 | c.615C>A (p.Asp205Glu) n.481C>A | |
| 20 | g.10658548T>A | CA408240076 | JAG1 | c.614A>T (p.Asp205Val) n.480A>T | |
| 20 | g.10658548T>C | CA408240077 | JAG1 | c.614A>G (p.Asp205Gly) n.480A>G | |
| 20 | g.10658548T>G | CA408240078 | JAG1 | c.614A>C (p.Asp205Ala) n.480A>C | |
| 20 | g.10658549C>A | CA408240079 | JAG1 | c.613G>T (p.Asp205Tyr) n.479G>T | |
| 20 | g.10658549C>G | CA408240080 | JAG1 | c.613G>C (p.Asp205His) n.479G>C | |
| 20 | g.10658549C>T | CA408240081 | JAG1 | c.613G>A (p.Asp205Asn) n.479G>A | |
| 20 | g.10658550A>C | CA408240083 | JAG1 | c.612T>G (p.Asp204Glu) n.478T>G | |
| 20 | g.10658550A>G | CA509816423 | JAG1 | c.612T>C (p.Asp204=) n.478T>C | |
| 20 | g.10658550A>T | CA408240082 | JAG1 | c.612T>A (p.Asp204Glu) n.478T>A | |
| 20 | g.10658551T>A | CA408240084 | JAG1 | c.611A>T (p.Asp204Val) n.477A>T | |
| 20 | g.10658551T>C | CA408240085 | JAG1 | c.611A>G (p.Asp204Gly) n.477A>G | ClinVar dbSNP |
| 20 | g.10658551T>G | CA408240086 | JAG1 | c.611A>C (p.Asp204Ala) n.477A>C | |
| 20 | g.10658552C>A | CA408240087 | JAG1 | c.610G>T (p.Asp204Tyr) n.476G>T | |
| 20 | g.10658552C>G | CA408240088 | JAG1 | c.610G>C (p.Asp204His) n.476G>C | |
| 20 | g.10658552C>T | CA408240089 | JAG1 | c.610G>A (p.Asp204Asn) n.476G>A | |
| 20 | g.10658553T>A | CA408240090 | JAG1 | c.609A>T (p.Arg203Ser) n.475A>T | |
| 20 | g.10658553T>C | CA509816424 | JAG1 | c.609A>G (p.Arg203=) n.475A>G | |
| 20 | g.10658553T>G | CA408240091 | JAG1 | c.609A>C (p.Arg203Ser) n.475A>C | |
| 20 | g.10658554C>A | CA408240092 | JAG1 | c.608G>T (p.Arg203Ile) n.474G>T | |
| 20 | g.10658554C>G | CA408240093 | JAG1 | c.608G>C (p.Arg203Thr) n.474G>C | |
| 20 | g.10658554C>T | CA408240094 | JAG1 | c.608G>A (p.Arg203Lys) n.474G>A | |
| 20 | g.10658555T>A | CA408240095 | JAG1 | c.607A>T (p.Arg203Ter) n.473A>T | |
| 20 | g.10658555T>C | CA408240096 | JAG1 | c.607A>G (p.Arg203Gly) n.473A>G | |
| 20 | g.10658555T>G | CA509816425 | JAG1 | c.607A>C (p.Arg203=) n.473A>C | |
| 20 | g.10658556G>A | CA509816428 | JAG1 | c.606C>T (p.Pro202=) n.472C>T | ClinVar dbSNP |
| 20 | g.10658556G>C | CA509816426 | JAG1 | c.606C>G (p.Pro202=) n.472C>G | |
| 20 | g.10658556G>T | CA509816427 | JAG1 | c.606C>A (p.Pro202=) n.472C>A | gnomAD v4 |
| 20 | g.10658557G>A | CA408240097 | JAG1 | c.605C>T (p.Pro202Leu) n.471C>T | |
| 20 | g.10658557G>C | CA408240099 | JAG1 | c.605C>G (p.Pro202Arg) n.471C>G | |
| 20 | g.10658557G>T | CA408240098 | JAG1 | c.605C>A (p.Pro202His) n.471C>A | gnomAD v4 |
| 20 | g.10658558G>A | CA408240100 | JAG1 | c.604C>T (p.Pro202Ser) n.470C>T | |
| 20 | g.10658558G>C | CA408240101 | JAG1 | c.604C>G (p.Pro202Ala) n.470C>G | |
| 20 | g.10658558G>T | CA408240102 | JAG1 | c.604C>A (p.Pro202Thr) n.470C>A | |
| 20 | g.10658559G>A | CA311351508 | JAG1 | c.603C>T (p.Arg201=) n.469C>T | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.10658559G>C | CA509816429 | JAG1 | c.603C>G (p.Arg201=) n.469C>G | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.10658559G= | CA2349888404 | JAG1 | c.603C= (p.Arg201=) n.469C= | |
| 20 | g.10658559G>T | CA509816431 | JAG1 | c.603C>A (p.Arg201=) n.469C>A | |
| 20 | g.10658560C>A | CA408240103 | JAG1 | c.602G>T (p.Arg201Leu) n.468G>T | |
| 20 | g.10658560C= | CA2349888405 | JAG1 | c.602G= (p.Arg201=) n.468G= | |
| 20 | g.10658560C>G | CA408240104 | JAG1 | c.602G>C (p.Arg201Pro) n.468G>C | |
| 20 | g.10658560C>T | CA408240105 | JAG1 | c.602G>A (p.Arg201His) n.468G>A | dbSNP gnomAD v2 gnomAD v4 |
| 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 | ClinVar |
| 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 | 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 |