Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.114679607_114679616delCA1006000417AMPD1c.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
1g.114679617delCA2647249104AMPD1c.851del (p.Asn284ThrfsTer23)
c.863del (p.Asn288ThrfsTer23)
c.646del (n.646del)
n.528del
c.950del (p.Asn317ThrfsTer23)
c.962del (p.Asn321ThrfsTer23)
gnomAD v4
1g.114679616T>ACA145623AMPD1c.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
1g.114679616T>CCA341750051AMPD1c.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
1g.114679616T>GCA341750052AMPD1c.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)
1g.114679616T=CA1140524565AMPD1c.848A= (p.Lys283=)
c.860A= (p.Lys287=)
c.643A= (n.643A=)
n.525A=
c.947A= (p.Lys316=)
c.959A= (p.Lys320=)
1g.114679617T>ACA341750053AMPD1c.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)
1g.114679617T>CCA341750054AMPD1c.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)
1g.114679617T>GCA341750055AMPD1c.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)
1g.114679618C>ACA29056762AMPD1c.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
1g.114679618C=CA1143562865AMPD1c.846G= (p.Leu282=)
c.858G= (p.Leu286=)
c.641G= (n.641G=)
n.523G=
c.945G= (p.Leu315=)
c.957G= (p.Leu319=)
1g.114679618C>GCA419883281AMPD1c.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=)
1g.114679618C>TCA419883282AMPD1c.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=)
1g.114679619delCA1006000443AMPD1c.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
1g.114679619A>CCA341750056AMPD1c.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)
1g.114679619A>GCA341750057AMPD1c.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)
1g.114679619A>TCA341750058AMPD1c.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
1g.114679620G>ACA419883283AMPD1c.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
1g.114679620G>CCA341750059AMPD1c.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
1g.114679620G=CA1190277408AMPD1c.844C= (p.Leu282=)
c.856C= (p.Leu286=)
c.639C= (n.639C=)
n.521C=
c.943C= (p.Leu315=)
c.955C= (p.Leu319=)
1g.114679620G>TCA341750060AMPD1c.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
1g.114679621C>ACA341750062AMPD1c.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
1g.114679621C=CA1190277409AMPD1c.843G= (p.Glu281=)
c.855G= (p.Glu285=)
c.638G= (n.638G=)
n.520G=
c.942G= (p.Glu314=)
c.954G= (p.Glu318=)
1g.114679621C>GCA341750061AMPD1c.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)
1g.114679621C>TCA419883284AMPD1c.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
1g.114679621_114679622insCGTACA1006000451AMPD1c.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
1g.114679622T>ACA341750063AMPD1c.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)
1g.114679622T>CCA341750064AMPD1c.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)
1g.114679622T>GCA341750065AMPD1c.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)
1g.114679623C>ACA341750066AMPD1c.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
1g.114679623C=CA1190277413AMPD1c.841G= (p.Glu281=)
c.853G= (p.Glu285=)
c.636G= (n.636G=)
n.518G=
c.940G= (p.Glu314=)
c.952G= (p.Glu318=)
1g.114679623C>GCA341750067AMPD1c.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)
1g.114679623C>TCA1020291AMPD1c.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
1g.114679624C>ACA341750068AMPD1c.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
1g.114679624C=CA1190277415AMPD1c.840G= (p.Lys280=)
c.852G= (p.Lys284=)
c.635G= (n.635G=)
n.517G=
c.939G= (p.Lys313=)
c.951G= (p.Lys317=)
1g.114679624C>GCA341750069AMPD1c.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)
1g.114679624C>TCA419883285AMPD1c.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=)
1g.114679625T>ACA341750070AMPD1c.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)
1g.114679625T>CCA341750071AMPD1c.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)
1g.114679625T>GCA341750072AMPD1c.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)
1g.114679626T>ACA341750075AMPD1c.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)
1g.114679626T>CCA341750074AMPD1c.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)
1g.114679626T>GCA341750073AMPD1c.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)
1g.114679626_114679627insAAAAAATCA1006000476AMPD1c.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
1g.114679627T>ACA341750076AMPD1c.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)
1g.114679627T>CCA419883286AMPD1c.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=)
1g.114679627T>GCA341750077AMPD1c.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)
1g.114679628A=CA1190277417AMPD1c.836T= (p.Leu279=)
c.848T= (p.Leu283=)
c.631T= (n.631T=)
n.513T=
c.935T= (p.Leu312=)
c.947T= (p.Leu316=)
1g.114679628A>CCA341750078AMPD1c.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
1g.114679628A>GCA341750079AMPD1c.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)

Number of alleles fetched