Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.114679607_114679616del | CA1006000417 | AMPD1 | c.848_857del (p.Lys283ThrfsTer21) c.860_869del (p.Lys287ThrfsTer21) c.643_652del (n.643_652del) n.525_534del c.947_956del (p.Lys316ThrfsTer21) c.959_968del (p.Lys320ThrfsTer21) | gnomAD v3 gnomAD v4 |
1 | g.114679617del | CA2647249104 | AMPD1 | c.851del (p.Asn284ThrfsTer23) c.863del (p.Asn288ThrfsTer23) c.646del (n.646del) n.528del c.950del (p.Asn317ThrfsTer23) c.962del (p.Asn321ThrfsTer23) | gnomAD v4 |
1 | g.114679616T>A | CA145623 | AMPD1 | c.848A>T (p.Lys283Ile) c.860A>T (p.Lys287Ile) c.643A>T (n.643A>T) n.525A>T c.947A>T (p.Lys316Ile) c.959A>T (p.Lys320Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.114679616T>C | CA341750051 | AMPD1 | c.848A>G (p.Lys283Arg) c.860A>G (p.Lys287Arg) c.643A>G (n.643A>G) n.525A>G c.947A>G (p.Lys316Arg) c.959A>G (p.Lys320Arg) | dbSNP gnomAD v4 |
1 | g.114679616T>G | CA341750052 | AMPD1 | c.848A>C (p.Lys283Thr) c.860A>C (p.Lys287Thr) c.643A>C (n.643A>C) n.525A>C c.947A>C (p.Lys316Thr) c.959A>C (p.Lys320Thr) | |
1 | g.114679616T= | CA1140524565 | AMPD1 | c.848A= (p.Lys283=) c.860A= (p.Lys287=) c.643A= (n.643A=) n.525A= c.947A= (p.Lys316=) c.959A= (p.Lys320=) | |
1 | g.114679617T>A | CA341750053 | AMPD1 | c.847A>T (p.Lys283Ter) c.859A>T (p.Lys287Ter) c.642A>T (n.642A>T) n.524A>T c.946A>T (p.Lys316Ter) c.958A>T (p.Lys320Ter) | |
1 | g.114679617T>C | CA341750054 | AMPD1 | c.847A>G (p.Lys283Glu) c.859A>G (p.Lys287Glu) c.642A>G (n.642A>G) n.524A>G c.946A>G (p.Lys316Glu) c.958A>G (p.Lys320Glu) | |
1 | g.114679617T>G | CA341750055 | AMPD1 | c.847A>C (p.Lys283Gln) c.859A>C (p.Lys287Gln) c.642A>C (n.642A>C) n.524A>C c.946A>C (p.Lys316Gln) c.958A>C (p.Lys320Gln) | |
1 | g.114679618C>A | CA29056762 | AMPD1 | c.846G>T (p.Leu282=) c.858G>T (p.Leu286=) c.641G>T (n.641G>T) n.523G>T c.945G>T (p.Leu315=) c.957G>T (p.Leu319=) | dbSNP |
1 | g.114679618C= | CA1143562865 | AMPD1 | c.846G= (p.Leu282=) c.858G= (p.Leu286=) c.641G= (n.641G=) n.523G= c.945G= (p.Leu315=) c.957G= (p.Leu319=) | |
1 | g.114679618C>G | CA419883281 | AMPD1 | c.846G>C (p.Leu282=) c.858G>C (p.Leu286=) c.641G>C (n.641G>C) n.523G>C c.945G>C (p.Leu315=) c.957G>C (p.Leu319=) | |
1 | g.114679618C>T | CA419883282 | AMPD1 | c.846G>A (p.Leu282=) c.858G>A (p.Leu286=) c.641G>A (n.641G>A) n.523G>A c.945G>A (p.Leu315=) c.957G>A (p.Leu319=) | |
1 | g.114679619del | CA1006000443 | AMPD1 | c.845del (p.Leu282ArgfsTer25) c.857del (p.Leu286ArgfsTer25) c.640del (n.640del) n.522del c.944del (p.Leu315ArgfsTer25) c.956del (p.Leu319ArgfsTer25) | gnomAD v3 gnomAD v4 |
1 | g.114679619A>C | CA341750056 | AMPD1 | c.845T>G (p.Leu282Arg) c.857T>G (p.Leu286Arg) c.640T>G (n.640T>G) n.522T>G c.944T>G (p.Leu315Arg) c.956T>G (p.Leu319Arg) | |
1 | g.114679619A>G | CA341750057 | AMPD1 | c.845T>C (p.Leu282Pro) c.857T>C (p.Leu286Pro) c.640T>C (n.640T>C) n.522T>C c.944T>C (p.Leu315Pro) c.956T>C (p.Leu319Pro) | |
1 | g.114679619A>T | CA341750058 | AMPD1 | c.845T>A (p.Leu282Gln) c.857T>A (p.Leu286Gln) c.640T>A (n.640T>A) n.522T>A c.944T>A (p.Leu315Gln) c.956T>A (p.Leu319Gln) | ClinVar dbSNP |
1 | g.114679620G>A | CA419883283 | AMPD1 | c.844C>T (p.Leu282=) c.856C>T (p.Leu286=) c.639C>T (n.639C>T) n.521C>T c.943C>T (p.Leu315=) c.955C>T (p.Leu319=) | gnomAD v4 |
1 | g.114679620G>C | CA341750059 | AMPD1 | c.844C>G (p.Leu282Val) c.856C>G (p.Leu286Val) c.639C>G (n.639C>G) n.521C>G c.943C>G (p.Leu315Val) c.955C>G (p.Leu319Val) | gnomAD v4 |
1 | g.114679620G= | CA1190277408 | AMPD1 | c.844C= (p.Leu282=) c.856C= (p.Leu286=) c.639C= (n.639C=) n.521C= c.943C= (p.Leu315=) c.955C= (p.Leu319=) | |
1 | g.114679620G>T | CA341750060 | AMPD1 | c.844C>A (p.Leu282Met) c.856C>A (p.Leu286Met) c.639C>A (n.639C>A) n.521C>A c.943C>A (p.Leu315Met) c.955C>A (p.Leu319Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.114679621C>A | CA341750062 | AMPD1 | c.843G>T (p.Glu281Asp) c.855G>T (p.Glu285Asp) c.638G>T (n.638G>T) n.520G>T c.942G>T (p.Glu314Asp) c.954G>T (p.Glu318Asp) | gnomAD v4 |
1 | g.114679621C= | CA1190277409 | AMPD1 | c.843G= (p.Glu281=) c.855G= (p.Glu285=) c.638G= (n.638G=) n.520G= c.942G= (p.Glu314=) c.954G= (p.Glu318=) | |
1 | g.114679621C>G | CA341750061 | AMPD1 | c.843G>C (p.Glu281Asp) c.855G>C (p.Glu285Asp) c.638G>C (n.638G>C) n.520G>C c.942G>C (p.Glu314Asp) c.954G>C (p.Glu318Asp) | |
1 | g.114679621C>T | CA419883284 | AMPD1 | c.843G>A (p.Glu281=) c.855G>A (p.Glu285=) c.638G>A (n.638G>A) n.520G>A c.942G>A (p.Glu314=) c.954G>A (p.Glu318=) | dbSNP |
1 | g.114679621_114679622insCGTA | CA1006000451 | AMPD1 | c.842_843insTACG (p.Glu281AspfsTer13) c.854_855insTACG (p.Glu285AspfsTer13) c.637_638insTACG (n.637_638insTACG) n.519_520insTACG c.941_942insTACG (p.Glu314AspfsTer13) c.953_954insTACG (p.Glu318AspfsTer13) | gnomAD v3 gnomAD v4 |
1 | g.114679622T>A | CA341750063 | AMPD1 | c.842A>T (p.Glu281Val) c.854A>T (p.Glu285Val) c.637A>T (n.637A>T) n.519A>T c.941A>T (p.Glu314Val) c.953A>T (p.Glu318Val) | |
1 | g.114679622T>C | CA341750064 | AMPD1 | c.842A>G (p.Glu281Gly) c.854A>G (p.Glu285Gly) c.637A>G (n.637A>G) n.519A>G c.941A>G (p.Glu314Gly) c.953A>G (p.Glu318Gly) | |
1 | g.114679622T>G | CA341750065 | AMPD1 | c.842A>C (p.Glu281Ala) c.854A>C (p.Glu285Ala) c.637A>C (n.637A>C) n.519A>C c.941A>C (p.Glu314Ala) c.953A>C (p.Glu318Ala) | |
1 | g.114679623C>A | CA341750066 | AMPD1 | c.841G>T (p.Glu281Ter) c.853G>T (p.Glu285Ter) c.636G>T (n.636G>T) n.518G>T c.940G>T (p.Glu314Ter) c.952G>T (p.Glu318Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.114679623C= | CA1190277413 | AMPD1 | c.841G= (p.Glu281=) c.853G= (p.Glu285=) c.636G= (n.636G=) n.518G= c.940G= (p.Glu314=) c.952G= (p.Glu318=) | |
1 | g.114679623C>G | CA341750067 | AMPD1 | c.841G>C (p.Glu281Gln) c.853G>C (p.Glu285Gln) c.636G>C (n.636G>C) n.518G>C c.940G>C (p.Glu314Gln) c.952G>C (p.Glu318Gln) | |
1 | g.114679623C>T | CA1020291 | AMPD1 | c.841G>A (p.Glu281Lys) c.853G>A (p.Glu285Lys) c.636G>A (n.636G>A) n.518G>A c.940G>A (p.Glu314Lys) c.952G>A (p.Glu318Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.114679624C>A | CA341750068 | AMPD1 | c.840G>T (p.Lys280Asn) c.852G>T (p.Lys284Asn) c.635G>T (n.635G>T) n.517G>T c.939G>T (p.Lys313Asn) c.951G>T (p.Lys317Asn) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.114679624C= | CA1190277415 | AMPD1 | c.840G= (p.Lys280=) c.852G= (p.Lys284=) c.635G= (n.635G=) n.517G= c.939G= (p.Lys313=) c.951G= (p.Lys317=) | |
1 | g.114679624C>G | CA341750069 | AMPD1 | c.840G>C (p.Lys280Asn) c.852G>C (p.Lys284Asn) c.635G>C (n.635G>C) n.517G>C c.939G>C (p.Lys313Asn) c.951G>C (p.Lys317Asn) | |
1 | g.114679624C>T | CA419883285 | AMPD1 | c.840G>A (p.Lys280=) c.852G>A (p.Lys284=) c.635G>A (n.635G>A) n.517G>A c.939G>A (p.Lys313=) c.951G>A (p.Lys317=) | |
1 | g.114679625T>A | CA341750070 | AMPD1 | c.839A>T (p.Lys280Met) c.851A>T (p.Lys284Met) c.634A>T (n.634A>T) n.516A>T c.938A>T (p.Lys313Met) c.950A>T (p.Lys317Met) | |
1 | g.114679625T>C | CA341750071 | AMPD1 | c.839A>G (p.Lys280Arg) c.851A>G (p.Lys284Arg) c.634A>G (n.634A>G) n.516A>G c.938A>G (p.Lys313Arg) c.950A>G (p.Lys317Arg) | |
1 | g.114679625T>G | CA341750072 | AMPD1 | c.839A>C (p.Lys280Thr) c.851A>C (p.Lys284Thr) c.634A>C (n.634A>C) n.516A>C c.938A>C (p.Lys313Thr) c.950A>C (p.Lys317Thr) | |
1 | g.114679626T>A | CA341750075 | AMPD1 | c.838A>T (p.Lys280Ter) c.850A>T (p.Lys284Ter) c.633A>T (n.633A>T) n.515A>T c.937A>T (p.Lys313Ter) c.949A>T (p.Lys317Ter) | |
1 | g.114679626T>C | CA341750074 | AMPD1 | c.838A>G (p.Lys280Glu) c.850A>G (p.Lys284Glu) c.633A>G (n.633A>G) n.515A>G c.937A>G (p.Lys313Glu) c.949A>G (p.Lys317Glu) | |
1 | g.114679626T>G | CA341750073 | AMPD1 | c.838A>C (p.Lys280Gln) c.850A>C (p.Lys284Gln) c.633A>C (n.633A>C) n.515A>C c.937A>C (p.Lys313Gln) c.949A>C (p.Lys317Gln) | |
1 | g.114679626_114679627insAAAAAAT | CA1006000476 | AMPD1 | c.838_839insTTTTTTA (p.Lys280IlefsTer3) c.850_851insTTTTTTA (p.Lys284IlefsTer3) c.633_634insTTTTTTA (n.633_634insTTTTTTA) n.515_516insTTTTTTA c.937_938insTTTTTTA (p.Lys313IlefsTer3) c.949_950insTTTTTTA (p.Lys317IlefsTer3) | gnomAD v3 gnomAD v4 |
1 | g.114679627T>A | CA341750076 | AMPD1 | c.837A>T (p.Leu279Phe) c.849A>T (p.Leu283Phe) c.632A>T (n.632A>T) n.514A>T c.936A>T (p.Leu312Phe) c.948A>T (p.Leu316Phe) | |
1 | g.114679627T>C | CA419883286 | AMPD1 | c.837A>G (p.Leu279=) c.849A>G (p.Leu283=) c.632A>G (n.632A>G) n.514A>G c.936A>G (p.Leu312=) c.948A>G (p.Leu316=) | |
1 | g.114679627T>G | CA341750077 | AMPD1 | c.837A>C (p.Leu279Phe) c.849A>C (p.Leu283Phe) c.632A>C (n.632A>C) n.514A>C c.936A>C (p.Leu312Phe) c.948A>C (p.Leu316Phe) | |
1 | g.114679628A= | CA1190277417 | AMPD1 | c.836T= (p.Leu279=) c.848T= (p.Leu283=) c.631T= (n.631T=) n.513T= c.935T= (p.Leu312=) c.947T= (p.Leu316=) | |
1 | g.114679628A>C | CA341750078 | AMPD1 | c.836T>G (p.Leu279Ter) c.848T>G (p.Leu283Ter) c.631T>G (n.631T>G) n.513T>G c.935T>G (p.Leu312Ter) c.947T>G (p.Leu316Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.114679628A>G | CA341750079 | AMPD1 | c.836T>C (p.Leu279Ser) c.848T>C (p.Leu283Ser) c.631T>C (n.631T>C) n.513T>C c.935T>C (p.Leu312Ser) c.947T>C (p.Leu316Ser) |