Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.114684255T>ACA341752509AMPD1c.479A>T (p.Lys160Ile)
c.491A>T (p.Lys164Ile)
c.494A>T (p.Lys165Ile)
n.156A>T
c.578A>T (p.Lys193Ile)
n.365A>T
c.590A>T (p.Lys197Ile)
1g.114684255T>CCA341752508AMPD1c.479A>G (p.Lys160Arg)
c.491A>G (p.Lys164Arg)
c.494A>G (p.Lys165Arg)
n.156A>G
c.578A>G (p.Lys193Arg)
n.365A>G
c.590A>G (p.Lys197Arg)
1g.114684255T>GCA341752506AMPD1c.479A>C (p.Lys160Thr)
c.491A>C (p.Lys164Thr)
c.494A>C (p.Lys165Thr)
n.156A>C
c.578A>C (p.Lys193Thr)
n.365A>C
c.590A>C (p.Lys197Thr)
1g.114684256T>ACA341752511AMPD1c.478A>T (p.Lys160Ter)
c.490A>T (p.Lys164Ter)
c.493A>T (p.Lys165Ter)
n.155A>T
c.577A>T (p.Lys193Ter)
n.364A>T
c.589A>T (p.Lys197Ter)
1g.114684256T>CCA341752513AMPD1c.478A>G (p.Lys160Glu)
c.490A>G (p.Lys164Glu)
c.493A>G (p.Lys165Glu)
n.155A>G
c.577A>G (p.Lys193Glu)
n.364A>G
c.589A>G (p.Lys197Glu)
1g.114684256T>GCA341752514AMPD1c.478A>C (p.Lys160Gln)
c.490A>C (p.Lys164Gln)
c.493A>C (p.Lys165Gln)
n.155A>C
c.577A>C (p.Lys193Gln)
n.364A>C
c.589A>C (p.Lys197Gln)
1g.114684257G>ACA419883491AMPD1c.477C>T (p.Ser159=)
c.489C>T (p.Ser163=)
c.492C>T (p.Ser164=)
n.154C>T
c.576C>T (p.Ser192=)
n.363C>T
c.588C>T (p.Ser196=)
1g.114684257G>CCA419883492AMPD1c.477C>G (p.Ser159=)
c.489C>G (p.Ser163=)
c.492C>G (p.Ser164=)
n.154C>G
c.576C>G (p.Ser192=)
n.363C>G
c.588C>G (p.Ser196=)
1g.114684257G>TCA419883493AMPD1c.477C>A (p.Ser159=)
c.489C>A (p.Ser163=)
c.492C>A (p.Ser164=)
n.154C>A
c.576C>A (p.Ser192=)
n.363C>A
c.588C>A (p.Ser196=)
1g.114684258G>ACA341752516AMPD1c.476C>T (p.Ser159Phe)
c.488C>T (p.Ser163Phe)
c.491C>T (p.Ser164Phe)
n.153C>T
c.575C>T (p.Ser192Phe)
n.362C>T
c.587C>T (p.Ser196Phe)
 COSMIC COSMIC
1g.114684258G>CCA341752518AMPD1c.476C>G (p.Ser159Cys)
c.488C>G (p.Ser163Cys)
c.491C>G (p.Ser164Cys)
n.153C>G
c.575C>G (p.Ser192Cys)
n.362C>G
c.587C>G (p.Ser196Cys)
1g.114684258G=CA1190281823AMPD1c.476C= (p.Ser159=)
c.488C= (p.Ser163=)
c.491C= (p.Ser164=)
n.153C=
c.575C= (p.Ser192=)
n.362C=
c.587C= (p.Ser196=)
1g.114684258G>TCA341752519AMPD1c.476C>A (p.Ser159Tyr)
c.488C>A (p.Ser163Tyr)
c.491C>A (p.Ser164Tyr)
n.153C>A
c.575C>A (p.Ser192Tyr)
n.362C>A
c.587C>A (p.Ser196Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.114684259A>CCA341752520AMPD1c.475T>G (p.Ser159Ala)
c.487T>G (p.Ser163Ala)
c.490T>G (p.Ser164Ala)
n.152T>G
c.574T>G (p.Ser192Ala)
n.361T>G
c.586T>G (p.Ser196Ala)
1g.114684259A>GCA341752527AMPD1c.475T>C (p.Ser159Pro)
c.487T>C (p.Ser163Pro)
c.490T>C (p.Ser164Pro)
n.152T>C
c.574T>C (p.Ser192Pro)
n.361T>C
c.586T>C (p.Ser196Pro)
1g.114684259A>TCA341752529AMPD1c.475T>A (p.Ser159Thr)
c.487T>A (p.Ser163Thr)
c.490T>A (p.Ser164Thr)
n.152T>A
c.574T>A (p.Ser192Thr)
n.361T>A
c.586T>A (p.Ser196Thr)
1g.114684260A=CA1190281828AMPD1c.474T= (p.Pro158=)
c.486T= (p.Pro162=)
c.489T= (p.Pro163=)
n.151T=
c.573T= (p.Pro191=)
n.360T=
c.585T= (p.Pro195=)
1g.114684260A>CCA419883494AMPD1c.474T>G (p.Pro158=)
c.486T>G (p.Pro162=)
c.489T>G (p.Pro163=)
n.151T>G
c.573T>G (p.Pro191=)
n.360T>G
c.585T>G (p.Pro195=)
1g.114684260A>GCA419883495AMPD1c.474T>C (p.Pro158=)
c.486T>C (p.Pro162=)
c.489T>C (p.Pro163=)
n.151T>C
c.573T>C (p.Pro191=)
n.360T>C
c.585T>C (p.Pro195=)
 dbSNP gnomAD v3 gnomAD v4
1g.114684260A>TCA419883496AMPD1c.474T>A (p.Pro158=)
c.486T>A (p.Pro162=)
c.489T>A (p.Pro163=)
n.151T>A
c.573T>A (p.Pro191=)
n.360T>A
c.585T>A (p.Pro195=)
1g.114684261G>ACA341752531AMPD1c.473C>T (p.Pro158Leu)
c.485C>T (p.Pro162Leu)
c.488C>T (p.Pro163Leu)
n.150C>T
c.572C>T (p.Pro191Leu)
n.359C>T
c.584C>T (p.Pro195Leu)
 gnomAD v4
1g.114684261G>CCA341752532AMPD1c.473C>G (p.Pro158Arg)
c.485C>G (p.Pro162Arg)
c.488C>G (p.Pro163Arg)
n.150C>G
c.572C>G (p.Pro191Arg)
n.359C>G
c.584C>G (p.Pro195Arg)
1g.114684261G>TCA341752534AMPD1c.473C>A (p.Pro158His)
c.485C>A (p.Pro162His)
c.488C>A (p.Pro163His)
n.150C>A
c.572C>A (p.Pro191His)
n.359C>A
c.584C>A (p.Pro195His)
1g.114684262G>ACA341752538AMPD1c.472C>T (p.Pro158Ser)
c.484C>T (p.Pro162Ser)
c.487C>T (p.Pro163Ser)
n.149C>T
c.571C>T (p.Pro191Ser)
n.358C>T
c.583C>T (p.Pro195Ser)
1g.114684262G>CCA341752539AMPD1c.472C>G (p.Pro158Ala)
c.484C>G (p.Pro162Ala)
c.487C>G (p.Pro163Ala)
n.149C>G
c.571C>G (p.Pro191Ala)
n.358C>G
c.583C>G (p.Pro195Ala)
1g.114684262G>TCA341752536AMPD1c.472C>A (p.Pro158Thr)
c.484C>A (p.Pro162Thr)
c.487C>A (p.Pro163Thr)
n.149C>A
c.571C>A (p.Pro191Thr)
n.358C>A
c.583C>A (p.Pro195Thr)
1g.114684263G>ACA419883497AMPD1c.471C>T (p.Thr157=)
c.483C>T (p.Thr161=)
c.486C>T (p.Thr162=)
n.148C>T
c.570C>T (p.Thr190=)
n.357C>T
c.582C>T (p.Thr194=)
 gnomAD v4
1g.114684263G>CCA419883498AMPD1c.471C>G (p.Thr157=)
c.483C>G (p.Thr161=)
c.486C>G (p.Thr162=)
n.148C>G
c.570C>G (p.Thr190=)
n.357C>G
c.582C>G (p.Thr194=)
1g.114684263G>TCA419883499AMPD1c.471C>A (p.Thr157=)
c.483C>A (p.Thr161=)
c.486C>A (p.Thr162=)
n.148C>A
c.570C>A (p.Thr190=)
n.357C>A
c.582C>A (p.Thr194=)
1g.114684264G>ACA341752541AMPD1c.470C>T (p.Thr157Ile)
c.482C>T (p.Thr161Ile)
c.485C>T (p.Thr162Ile)
n.147C>T
c.569C>T (p.Thr190Ile)
n.356C>T
c.581C>T (p.Thr194Ile)
1g.114684264G>CCA341752543AMPD1c.470C>G (p.Thr157Ser)
c.482C>G (p.Thr161Ser)
c.485C>G (p.Thr162Ser)
n.147C>G
c.569C>G (p.Thr190Ser)
n.356C>G
c.581C>G (p.Thr194Ser)
1g.114684264G>TCA341752544AMPD1c.470C>A (p.Thr157Asn)
c.482C>A (p.Thr161Asn)
c.485C>A (p.Thr162Asn)
n.147C>A
c.569C>A (p.Thr190Asn)
n.356C>A
c.581C>A (p.Thr194Asn)
1g.114684265T>ACA341752546AMPD1c.469A>T (p.Thr157Ser)
c.481A>T (p.Thr161Ser)
c.484A>T (p.Thr162Ser)
n.146A>T
c.568A>T (p.Thr190Ser)
n.355A>T
c.580A>T (p.Thr194Ser)
1g.114684265T>CCA341752547AMPD1c.469A>G (p.Thr157Ala)
c.481A>G (p.Thr161Ala)
c.484A>G (p.Thr162Ala)
n.146A>G
c.568A>G (p.Thr190Ala)
n.355A>G
c.580A>G (p.Thr194Ala)
1g.114684265T>GCA341752548AMPD1c.469A>C (p.Thr157Pro)
c.481A>C (p.Thr161Pro)
c.484A>C (p.Thr162Pro)
n.146A>C
c.568A>C (p.Thr190Pro)
n.355A>C
c.580A>C (p.Thr194Pro)
1g.114684266T>ACA341752549AMPD1c.468A>T (p.Lys156Asn)
c.480A>T (p.Lys160Asn)
c.483A>T (p.Lys161Asn)
n.145A>T
c.567A>T (p.Lys189Asn)
n.354A>T
c.579A>T (p.Lys193Asn)
1g.114684266T>CCA419883500AMPD1c.468A>G (p.Lys156=)
c.480A>G (p.Lys160=)
c.483A>G (p.Lys161=)
n.145A>G
c.567A>G (p.Lys189=)
n.354A>G
c.579A>G (p.Lys193=)
 ClinVar gnomAD v4
1g.114684266T>GCA341752550AMPD1c.468A>C (p.Lys156Asn)
c.480A>C (p.Lys160Asn)
c.483A>C (p.Lys161Asn)
n.145A>C
c.567A>C (p.Lys189Asn)
n.354A>C
c.579A>C (p.Lys193Asn)
1g.114684267T>ACA341752552AMPD1c.467A>T (p.Lys156Ile)
c.479A>T (p.Lys160Ile)
c.482A>T (p.Lys161Ile)
n.144A>T
c.566A>T (p.Lys189Ile)
n.353A>T
c.578A>T (p.Lys193Ile)
 gnomAD v4
1g.114684267T>CCA341752553AMPD1c.467A>G (p.Lys156Arg)
c.479A>G (p.Lys160Arg)
c.482A>G (p.Lys161Arg)
n.144A>G
c.566A>G (p.Lys189Arg)
n.353A>G
c.578A>G (p.Lys193Arg)
1g.114684267T>GCA341752554AMPD1c.467A>C (p.Lys156Thr)
c.479A>C (p.Lys160Thr)
c.482A>C (p.Lys161Thr)
n.144A>C
c.566A>C (p.Lys189Thr)
n.353A>C
c.578A>C (p.Lys193Thr)
1g.114684268T>ACA341752556AMPD1c.466A>T (p.Lys156Ter)
c.478A>T (p.Lys160Ter)
c.481A>T (p.Lys161Ter)
n.143A>T
c.565A>T (p.Lys189Ter)
n.352A>T
c.577A>T (p.Lys193Ter)
1g.114684268T>CCA341752557AMPD1c.466A>G (p.Lys156Glu)
c.478A>G (p.Lys160Glu)
c.481A>G (p.Lys161Glu)
n.143A>G
c.565A>G (p.Lys189Glu)
n.352A>G
c.577A>G (p.Lys193Glu)
1g.114684268T>GCA341752558AMPD1c.466A>C (p.Lys156Gln)
c.478A>C (p.Lys160Gln)
c.481A>C (p.Lys161Gln)
n.143A>C
c.565A>C (p.Lys189Gln)
n.352A>C
c.577A>C (p.Lys193Gln)
1g.114684269A>CCA419883501AMPD1c.465T>G (p.Pro155=)
c.477T>G (p.Pro159=)
c.480T>G (p.Pro160=)
n.142T>G
c.564T>G (p.Pro188=)
n.351T>G
c.576T>G (p.Pro192=)
1g.114684269A>GCA419883502AMPD1c.465T>C (p.Pro155=)
c.477T>C (p.Pro159=)
c.480T>C (p.Pro160=)
n.142T>C
c.564T>C (p.Pro188=)
n.351T>C
c.576T>C (p.Pro192=)
 gnomAD v4
1g.114684269A>TCA419883503AMPD1c.465T>A (p.Pro155=)
c.477T>A (p.Pro159=)
c.480T>A (p.Pro160=)
n.142T>A
c.564T>A (p.Pro188=)
n.351T>A
c.576T>A (p.Pro192=)
1g.114684270G>ACA341752561AMPD1c.464C>T (p.Pro155Leu)
c.476C>T (p.Pro159Leu)
c.479C>T (p.Pro160Leu)
n.141C>T
c.563C>T (p.Pro188Leu)
n.350C>T
c.575C>T (p.Pro192Leu)
 gnomAD v4
1g.114684270G>CCA341752562AMPD1c.464C>G (p.Pro155Arg)
c.476C>G (p.Pro159Arg)
c.479C>G (p.Pro160Arg)
n.141C>G
c.563C>G (p.Pro188Arg)
n.350C>G
c.575C>G (p.Pro192Arg)
1g.114684270G>TCA341752560AMPD1c.464C>A (p.Pro155His)
c.476C>A (p.Pro159His)
c.479C>A (p.Pro160His)
n.141C>A
c.563C>A (p.Pro188His)
n.350C>A
c.575C>A (p.Pro192His)
1g.114684271G>ACA341752565AMPD1c.463C>T (p.Pro155Ser)
c.475C>T (p.Pro159Ser)
c.478C>T (p.Pro160Ser)
n.140C>T
c.562C>T (p.Pro188Ser)
n.349C>T
c.574C>T (p.Pro192Ser)
1g.114684271G>CCA341752563AMPD1c.463C>G (p.Pro155Ala)
c.475C>G (p.Pro159Ala)
c.478C>G (p.Pro160Ala)
n.140C>G
c.562C>G (p.Pro188Ala)
n.349C>G
c.574C>G (p.Pro192Ala)
1g.114684271G>TCA341752566AMPD1c.463C>A (p.Pro155Thr)
c.475C>A (p.Pro159Thr)
c.478C>A (p.Pro160Thr)
n.140C>A
c.562C>A (p.Pro188Thr)
n.349C>A
c.574C>A (p.Pro192Thr)
1g.114684272G>ACA419883504AMPD1c.462C>T (p.Phe154=)
c.474C>T (p.Phe158=)
c.477C>T (p.Phe159=)
n.139C>T
c.561C>T (p.Phe187=)
n.348C>T
c.573C>T (p.Phe191=)
 gnomAD v4
1g.114684272G>CCA341752568AMPD1c.462C>G (p.Phe154Leu)
c.474C>G (p.Phe158Leu)
c.477C>G (p.Phe159Leu)
n.139C>G
c.561C>G (p.Phe187Leu)
n.348C>G
c.573C>G (p.Phe191Leu)
1g.114684272G>TCA341752569AMPD1c.462C>A (p.Phe154Leu)
c.474C>A (p.Phe158Leu)
c.477C>A (p.Phe159Leu)
n.139C>A
c.561C>A (p.Phe187Leu)
n.348C>A
c.573C>A (p.Phe191Leu)
1g.114684273A>CCA341752571AMPD1c.461T>G (p.Phe154Cys)
c.473T>G (p.Phe158Cys)
c.476T>G (p.Phe159Cys)
n.138T>G
c.560T>G (p.Phe187Cys)
n.347T>G
c.572T>G (p.Phe191Cys)
1g.114684273A>GCA341752573AMPD1c.461T>C (p.Phe154Ser)
c.473T>C (p.Phe158Ser)
c.476T>C (p.Phe159Ser)
n.138T>C
c.560T>C (p.Phe187Ser)
n.347T>C
c.572T>C (p.Phe191Ser)
1g.114684273A>TCA341752574AMPD1c.461T>A (p.Phe154Tyr)
c.473T>A (p.Phe158Tyr)
c.476T>A (p.Phe159Tyr)
n.138T>A
c.560T>A (p.Phe187Tyr)
n.347T>A
c.572T>A (p.Phe191Tyr)
1g.114684274delCA2647253451AMPD1c.461del (p.Phe154SerfsTer18)
c.473del (p.Phe158SerfsTer18)
c.476del (p.Phe159SerfsTer18)
n.138del
c.560del (p.Phe187SerfsTer18)
n.347del
c.572del (p.Phe191SerfsTer18)
 gnomAD v4
1g.114684274A=CA1190281831AMPD1c.460T= (p.Phe154=)
c.472T= (p.Phe158=)
c.475T= (p.Phe159=)
n.137T=
c.559T= (p.Phe187=)
n.346T=
c.571T= (p.Phe191=)
1g.114684274A>CCA341752576AMPD1c.460T>G (p.Phe154Val)
c.472T>G (p.Phe158Val)
c.475T>G (p.Phe159Val)
n.137T>G
c.559T>G (p.Phe187Val)
n.346T>G
c.571T>G (p.Phe191Val)
1g.114684274A>GCA341752578AMPD1c.460T>C (p.Phe154Leu)
c.472T>C (p.Phe158Leu)
c.475T>C (p.Phe159Leu)
n.137T>C
c.559T>C (p.Phe187Leu)
n.346T>C
c.571T>C (p.Phe191Leu)
 dbSNP gnomAD v4
1g.114684274A>TCA341752579AMPD1c.460T>A (p.Phe154Ile)
c.472T>A (p.Phe158Ile)
c.475T>A (p.Phe159Ile)
n.137T>A
c.559T>A (p.Phe187Ile)
n.346T>A
c.571T>A (p.Phe191Ile)
1g.114684275C>ACA341752581AMPD1c.459G>T (p.Arg153Ser)
c.471G>T (p.Arg157Ser)
c.474G>T (p.Arg158Ser)
n.136G>T
c.558G>T (p.Arg186Ser)
n.345G>T
c.570G>T (p.Arg190Ser)
 dbSNP
1g.114684275C=CA1190281835AMPD1c.459G= (p.Arg153=)
c.471G= (p.Arg157=)
c.474G= (p.Arg158=)
n.136G=
c.558G= (p.Arg186=)
n.345G=
c.570G= (p.Arg190=)
1g.114684275C>GCA341752582AMPD1c.459G>C (p.Arg153Ser)
c.471G>C (p.Arg157Ser)
c.474G>C (p.Arg158Ser)
n.136G>C
c.558G>C (p.Arg186Ser)
n.345G>C
c.570G>C (p.Arg190Ser)
1g.114684275C>TCA419883505AMPD1c.459G>A (p.Arg153=)
c.471G>A (p.Arg157=)
c.474G>A (p.Arg158=)
n.136G>A
c.558G>A (p.Arg186=)
n.345G>A
c.570G>A (p.Arg190=)
 ClinVar gnomAD v4
1g.114684276C>ACA341752584AMPD1c.458G>T (p.Arg153Met)
c.470G>T (p.Arg157Met)
c.473G>T (p.Arg158Met)
n.135G>T
c.557G>T (p.Arg186Met)
n.344G>T
c.569G>T (p.Arg190Met)
1g.114684276C>GCA341752586AMPD1c.458G>C (p.Arg153Thr)
c.470G>C (p.Arg157Thr)
c.473G>C (p.Arg158Thr)
n.135G>C
c.557G>C (p.Arg186Thr)
n.344G>C
c.569G>C (p.Arg190Thr)
1g.114684276C>TCA341752587AMPD1c.458G>A (p.Arg153Lys)
c.470G>A (p.Arg157Lys)
c.473G>A (p.Arg158Lys)
n.135G>A
c.557G>A (p.Arg186Lys)
n.344G>A
c.569G>A (p.Arg190Lys)
1g.114684277T>ACA341752590AMPD1c.457A>T (p.Arg153Trp)
c.469A>T (p.Arg157Trp)
c.472A>T (p.Arg158Trp)
n.134A>T
c.556A>T (p.Arg186Trp)
n.343A>T
c.568A>T (p.Arg190Trp)
1g.114684277T>CCA341752589AMPD1c.457A>G (p.Arg153Gly)
c.469A>G (p.Arg157Gly)
c.472A>G (p.Arg158Gly)
n.134A>G
c.556A>G (p.Arg186Gly)
n.343A>G
c.568A>G (p.Arg190Gly)
1g.114684277T>GCA419883506AMPD1c.457A>C (p.Arg153=)
c.469A>C (p.Arg157=)
c.472A>C (p.Arg158=)
n.134A>C
c.556A>C (p.Arg186=)
n.343A>C
c.568A>C (p.Arg190=)
1g.114684278C>ACA202973AMPD1c.456G>T (p.Gln152His)
c.468G>T (p.Gln156His)
c.471G>T (p.Gln157His)
n.133G>T
c.555G>T (p.Gln185His)
n.342G>T
c.567G>T (p.Gln189His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114684278C=CA1141689258AMPD1c.456G= (p.Gln152=)
c.468G= (p.Gln156=)
c.471G= (p.Gln157=)
n.133G=
c.555G= (p.Gln185=)
n.342G=
c.567G= (p.Gln189=)
1g.114684278C>GCA341752593AMPD1c.456G>C (p.Gln152His)
c.468G>C (p.Gln156His)
c.471G>C (p.Gln157His)
n.133G>C
c.555G>C (p.Gln185His)
n.342G>C
c.567G>C (p.Gln189His)
1g.114684278C>TCA419883507AMPD1c.456G>A (p.Gln152=)
c.468G>A (p.Gln156=)
c.471G>A (p.Gln157=)
n.133G>A
c.555G>A (p.Gln185=)
n.342G>A
c.567G>A (p.Gln189=)
1g.114684279T>ACA341752595AMPD1c.455A>T (p.Gln152Leu)
c.467A>T (p.Gln156Leu)
c.470A>T (p.Gln157Leu)
n.132A>T
c.554A>T (p.Gln185Leu)
n.341A>T
c.566A>T (p.Gln189Leu)
1g.114684279T>CCA341752596AMPD1c.455A>G (p.Gln152Arg)
c.467A>G (p.Gln156Arg)
c.470A>G (p.Gln157Arg)
n.132A>G
c.554A>G (p.Gln185Arg)
n.341A>G
c.566A>G (p.Gln189Arg)
1g.114684279T>GCA341752598AMPD1c.455A>C (p.Gln152Pro)
c.467A>C (p.Gln156Pro)
c.470A>C (p.Gln157Pro)
n.132A>C
c.554A>C (p.Gln185Pro)
n.341A>C
c.566A>C (p.Gln189Pro)
1g.114684280G>ACA341752600AMPD1c.454C>T (p.Gln152Ter)
c.466C>T (p.Gln156Ter)
c.469C>T (p.Gln157Ter)
n.131C>T
c.553C>T (p.Gln185Ter)
n.340C>T
c.565C>T (p.Gln189Ter)
1g.114684280G>CCA341752601AMPD1c.454C>G (p.Gln152Glu)
c.466C>G (p.Gln156Glu)
c.469C>G (p.Gln157Glu)
n.131C>G
c.553C>G (p.Gln185Glu)
n.340C>G
c.565C>G (p.Gln189Glu)
1g.114684280G=CA1190281843AMPD1c.454C= (p.Gln152=)
c.466C= (p.Gln156=)
c.469C= (p.Gln157=)
n.131C=
c.553C= (p.Gln185=)
n.340C=
c.565C= (p.Gln189=)
1g.114684280G>TCA1020422AMPD1c.454C>A (p.Gln152Lys)
c.466C>A (p.Gln156Lys)
c.469C>A (p.Gln157Lys)
n.131C>A
c.553C>A (p.Gln185Lys)
n.340C>A
c.565C>A (p.Gln189Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114684281A=CA1148301110AMPD1c.453T= (p.Phe151=)
c.465T= (p.Phe155=)
c.468T= (p.Phe156=)
n.130T=
c.552T= (p.Phe184=)
n.339T=
c.564T= (p.Phe188=)
1g.114684281A>CCA341752603AMPD1c.453T>G (p.Phe151Leu)
c.465T>G (p.Phe155Leu)
c.468T>G (p.Phe156Leu)
n.130T>G
c.552T>G (p.Phe184Leu)
n.339T>G
c.564T>G (p.Phe188Leu)
1g.114684281A>GCA419883508AMPD1c.453T>C (p.Phe151=)
c.465T>C (p.Phe155=)
c.468T>C (p.Phe156=)
n.130T>C
c.552T>C (p.Phe184=)
n.339T>C
c.564T>C (p.Phe188=)
1g.114684281A>TCA1020423AMPD1c.453T>A (p.Phe151Leu)
c.465T>A (p.Phe155Leu)
c.468T>A (p.Phe156Leu)
n.130T>A
c.552T>A (p.Phe184Leu)
n.339T>A
c.564T>A (p.Phe188Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114684282A=CA1149055904AMPD1c.452T= (p.Phe151=)
c.464T= (p.Phe155=)
c.467T= (p.Phe156=)
n.129T=
c.551T= (p.Phe184=)
n.338T=
c.563T= (p.Phe188=)
1g.114684282A>CCA341752605AMPD1c.452T>G (p.Phe151Cys)
c.464T>G (p.Phe155Cys)
c.467T>G (p.Phe156Cys)
n.129T>G
c.551T>G (p.Phe184Cys)
n.338T>G
c.563T>G (p.Phe188Cys)
 COSMIC COSMIC
1g.114684282A>GCA29060012AMPD1c.452T>C (p.Phe151Ser)
c.464T>C (p.Phe155Ser)
c.467T>C (p.Phe156Ser)
n.129T>C
c.551T>C (p.Phe184Ser)
n.338T>C
c.563T>C (p.Phe188Ser)
 dbSNP
1g.114684282A>TCA341752608AMPD1c.452T>A (p.Phe151Tyr)
c.464T>A (p.Phe155Tyr)
c.467T>A (p.Phe156Tyr)
n.129T>A
c.551T>A (p.Phe184Tyr)
n.338T>A
c.563T>A (p.Phe188Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.114684283A>CCA341752610AMPD1c.451T>G (p.Phe151Val)
c.463T>G (p.Phe155Val)
c.466T>G (p.Phe156Val)
n.128T>G
c.550T>G (p.Phe184Val)
n.337T>G
c.562T>G (p.Phe188Val)
1g.114684283A>GCA341752613AMPD1c.451T>C (p.Phe151Leu)
c.463T>C (p.Phe155Leu)
c.466T>C (p.Phe156Leu)
n.128T>C
c.550T>C (p.Phe184Leu)
n.337T>C
c.562T>C (p.Phe188Leu)
1g.114684283A>TCA341752612AMPD1c.451T>A (p.Phe151Ile)
c.463T>A (p.Phe155Ile)
c.466T>A (p.Phe156Ile)
n.128T>A
c.550T>A (p.Phe184Ile)
n.337T>A
c.562T>A (p.Phe188Ile)
1g.114684284C>ACA419883509AMPD1c.450G>T (p.Ser150=)
c.462G>T (p.Ser154=)
c.465G>T (p.Ser155=)
n.127G>T
c.549G>T (p.Ser183=)
n.336G>T
c.561G>T (p.Ser187=)
1g.114684284C=CA1190281853AMPD1c.450G= (p.Ser150=)
c.462G= (p.Ser154=)
c.465G= (p.Ser155=)
n.127G=
c.549G= (p.Ser183=)
n.336G=
c.561G= (p.Ser187=)
1g.114684284C>GCA419883510AMPD1c.450G>C (p.Ser150=)
c.462G>C (p.Ser154=)
c.465G>C (p.Ser155=)
n.127G>C
c.549G>C (p.Ser183=)
n.336G>C
c.561G>C (p.Ser187=)
1g.114684284C>TCA1020424AMPD1c.450G>A (p.Ser150=)
c.462G>A (p.Ser154=)
c.465G>A (p.Ser155=)
n.127G>A
c.549G>A (p.Ser183=)
n.336G>A
c.561G>A (p.Ser187=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114684285G>ACA341752617AMPD1c.449C>T (p.Ser150Leu)
c.461C>T (p.Ser154Leu)
c.464C>T (p.Ser155Leu)
n.126C>T
c.548C>T (p.Ser183Leu)
n.335C>T
c.560C>T (p.Ser187Leu)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
1g.114684285G>CCA341752618AMPD1c.449C>G (p.Ser150Trp)
c.461C>G (p.Ser154Trp)
c.464C>G (p.Ser155Trp)
n.126C>G
c.548C>G (p.Ser183Trp)
n.335C>G
c.560C>G (p.Ser187Trp)
1g.114684285G=CA1190281857AMPD1c.449C= (p.Ser150=)
c.461C= (p.Ser154=)
c.464C= (p.Ser155=)
n.126C=
c.548C= (p.Ser183=)
n.335C=
c.560C= (p.Ser187=)
1g.114684285G>TCA341752619AMPD1c.449C>A (p.Ser150Ter)
c.461C>A (p.Ser154Ter)
c.464C>A (p.Ser155Ter)
n.126C>A
c.548C>A (p.Ser183Ter)
n.335C>A
c.560C>A (p.Ser187Ter)
 gnomAD v4
1g.114684286A=CA1190281860AMPD1c.448T= (p.Ser150=)
c.460T= (p.Ser154=)
c.463T= (p.Ser155=)
n.125T=
c.547T= (p.Ser183=)
n.334T=
c.559T= (p.Ser187=)
1g.114684286A>CCA341752622AMPD1c.448T>G (p.Ser150Ala)
c.460T>G (p.Ser154Ala)
c.463T>G (p.Ser155Ala)
n.125T>G
c.547T>G (p.Ser183Ala)
n.334T>G
c.559T>G (p.Ser187Ala)
1g.114684286A>GCA1020425AMPD1c.448T>C (p.Ser150Pro)
c.460T>C (p.Ser154Pro)
c.463T>C (p.Ser155Pro)
n.125T>C
c.547T>C (p.Ser183Pro)
n.334T>C
c.559T>C (p.Ser187Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114684286A>TCA341752623AMPD1c.448T>A (p.Ser150Thr)
c.460T>A (p.Ser154Thr)
c.463T>A (p.Ser155Thr)
n.125T>A
c.547T>A (p.Ser183Thr)
n.334T>A
c.559T>A (p.Ser187Thr)
1g.114684287C>ACA341752625AMPD1c.447G>T (p.Lys149Asn)
c.459G>T (p.Lys153Asn)
c.462G>T (p.Lys154Asn)
n.124G>T
c.546G>T (p.Lys182Asn)
n.333G>T
c.558G>T (p.Lys186Asn)
1g.114684287C>GCA341752626AMPD1c.447G>C (p.Lys149Asn)
c.459G>C (p.Lys153Asn)
c.462G>C (p.Lys154Asn)
n.124G>C
c.546G>C (p.Lys182Asn)
n.333G>C
c.558G>C (p.Lys186Asn)
 COSMIC COSMIC
1g.114684287C>TCA419883511AMPD1c.447G>A (p.Lys149=)
c.459G>A (p.Lys153=)
c.462G>A (p.Lys154=)
n.124G>A
c.546G>A (p.Lys182=)
n.333G>A
c.558G>A (p.Lys186=)
1g.114684288T>ACA341752628AMPD1c.446A>T (p.Lys149Met)
c.458A>T (p.Lys153Met)
c.461A>T (p.Lys154Met)
n.123A>T
c.545A>T (p.Lys182Met)
n.332A>T
c.557A>T (p.Lys186Met)
 gnomAD v4
1g.114684288T>CCA341752629AMPD1c.446A>G (p.Lys149Arg)
c.458A>G (p.Lys153Arg)
c.461A>G (p.Lys154Arg)
n.123A>G
c.545A>G (p.Lys182Arg)
n.332A>G
c.557A>G (p.Lys186Arg)
1g.114684288T>GCA341752631AMPD1c.446A>C (p.Lys149Thr)
c.458A>C (p.Lys153Thr)
c.461A>C (p.Lys154Thr)
n.123A>C
c.545A>C (p.Lys182Thr)
n.332A>C
c.557A>C (p.Lys186Thr)
1g.114684289T>ACA341752636AMPD1c.445A>T (p.Lys149Ter)
c.457A>T (p.Lys153Ter)
c.460A>T (p.Lys154Ter)
n.122A>T
c.544A>T (p.Lys182Ter)
n.331A>T
c.556A>T (p.Lys186Ter)
1g.114684289T>CCA341752633AMPD1c.445A>G (p.Lys149Glu)
c.457A>G (p.Lys153Glu)
c.460A>G (p.Lys154Glu)
n.122A>G
c.544A>G (p.Lys182Glu)
n.331A>G
c.556A>G (p.Lys186Glu)
1g.114684289T>GCA341752635AMPD1c.445A>C (p.Lys149Gln)
c.457A>C (p.Lys153Gln)
c.460A>C (p.Lys154Gln)
n.122A>C
c.544A>C (p.Lys182Gln)
n.331A>C
c.556A>C (p.Lys186Gln)
1g.114684290C>ACA341752637AMPD1c.444G>T (p.Gln148His)
c.456G>T (p.Gln152His)
c.459G>T (p.Gln153His)
n.121G>T
c.543G>T (p.Gln181His)
n.330G>T
c.555G>T (p.Gln185His)
1g.114684290C=CA1190281863AMPD1c.444G= (p.Gln148=)
c.456G= (p.Gln152=)
c.459G= (p.Gln153=)
n.121G=
c.543G= (p.Gln181=)
n.330G=
c.555G= (p.Gln185=)
1g.114684290C>GCA341752638AMPD1c.444G>C (p.Gln148His)
c.456G>C (p.Gln152His)
c.459G>C (p.Gln153His)
n.121G>C
c.543G>C (p.Gln181His)
n.330G>C
c.555G>C (p.Gln185His)
 dbSNP gnomAD v2 gnomAD v4
1g.114684290C>TCA419883512AMPD1c.444G>A (p.Gln148=)
c.456G>A (p.Gln152=)
c.459G>A (p.Gln153=)
n.121G>A
c.543G>A (p.Gln181=)
n.330G>A
c.555G>A (p.Gln185=)
1g.114684291T>ACA341752639AMPD1c.443A>T (p.Gln148Leu)
c.455A>T (p.Gln152Leu)
c.458A>T (p.Gln153Leu)
n.120A>T
c.542A>T (p.Gln181Leu)
n.329A>T
c.554A>T (p.Gln185Leu)
1g.114684291T>CCA341752640AMPD1c.443A>G (p.Gln148Arg)
c.455A>G (p.Gln152Arg)
c.458A>G (p.Gln153Arg)
n.120A>G
c.542A>G (p.Gln181Arg)
n.329A>G
c.554A>G (p.Gln185Arg)
1g.114684291T>GCA341752641AMPD1c.443A>C (p.Gln148Pro)
c.455A>C (p.Gln152Pro)
c.458A>C (p.Gln153Pro)
n.120A>C
c.542A>C (p.Gln181Pro)
n.329A>C
c.554A>C (p.Gln185Pro)
1g.114684292G>ACA341752642AMPD1c.442C>T (p.Gln148Ter)
c.454C>T (p.Gln152Ter)
c.457C>T (p.Gln153Ter)
n.119C>T
c.541C>T (p.Gln181Ter)
n.328C>T
c.553C>T (p.Gln185Ter)
1g.114684292G>CCA341752643AMPD1c.442C>G (p.Gln148Glu)
c.454C>G (p.Gln152Glu)
c.457C>G (p.Gln153Glu)
n.119C>G
c.541C>G (p.Gln181Glu)
n.328C>G
c.553C>G (p.Gln185Glu)
1g.114684292G=CA1190281865AMPD1c.442C= (p.Gln148=)
c.454C= (p.Gln152=)
c.457C= (p.Gln153=)
n.119C=
c.541C= (p.Gln181=)
n.328C=
c.553C= (p.Gln185=)
1g.114684292G>TCA341752644AMPD1c.442C>A (p.Gln148Lys)
c.454C>A (p.Gln152Lys)
c.457C>A (p.Gln153Lys)
n.119C>A
c.541C>A (p.Gln181Lys)
n.328C>A
c.553C>A (p.Gln185Lys)
 dbSNP gnomAD v2
1g.114684293C>ACA341752646AMPD1c.441G>T (p.Met147Ile)
c.453G>T (p.Met151Ile)
c.456G>T (p.Met152Ile)
n.118G>T
c.540G>T (p.Met180Ile)
n.327G>T
c.552G>T (p.Met184Ile)
1g.114684293C>GCA341752647AMPD1c.441G>C (p.Met147Ile)
c.453G>C (p.Met151Ile)
c.456G>C (p.Met152Ile)
n.118G>C
c.540G>C (p.Met180Ile)
n.327G>C
c.552G>C (p.Met184Ile)
1g.114684293C>TCA341752649AMPD1c.441G>A (p.Met147Ile)
c.453G>A (p.Met151Ile)
c.456G>A (p.Met152Ile)
n.118G>A
c.540G>A (p.Met180Ile)
n.327G>A
c.552G>A (p.Met184Ile)
1g.114684294A=CA1190281869AMPD1c.440T= (p.Met147=)
c.452T= (p.Met151=)
c.455T= (p.Met152=)
n.117T=
c.539T= (p.Met180=)
n.326T=
c.551T= (p.Met184=)
1g.114684294A>CCA341752652AMPD1c.440T>G (p.Met147Arg)
c.452T>G (p.Met151Arg)
c.455T>G (p.Met152Arg)
n.117T>G
c.539T>G (p.Met180Arg)
n.326T>G
c.551T>G (p.Met184Arg)
 gnomAD v4
1g.114684294A>GCA341752654AMPD1c.440T>C (p.Met147Thr)
c.452T>C (p.Met151Thr)
c.455T>C (p.Met152Thr)
n.117T>C
c.539T>C (p.Met180Thr)
n.326T>C
c.551T>C (p.Met184Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.114684294A>TCA341752651AMPD1c.440T>A (p.Met147Lys)
c.452T>A (p.Met151Lys)
c.455T>A (p.Met152Lys)
n.117T>A
c.539T>A (p.Met180Lys)
n.326T>A
c.551T>A (p.Met184Lys)
1g.114684295T>ACA1020426AMPD1c.439A>T (p.Met147Leu)
c.451A>T (p.Met151Leu)
c.454A>T (p.Met152Leu)
n.116A>T
c.538A>T (p.Met180Leu)
n.325A>T
c.550A>T (p.Met184Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114684295T>CCA341752656AMPD1c.439A>G (p.Met147Val)
c.451A>G (p.Met151Val)
c.454A>G (p.Met152Val)
n.116A>G
c.538A>G (p.Met180Val)
n.325A>G
c.550A>G (p.Met184Val)
 gnomAD v4
1g.114684295T>GCA341752657AMPD1c.439A>C (p.Met147Leu)
c.451A>C (p.Met151Leu)
c.454A>C (p.Met152Leu)
n.116A>C
c.538A>C (p.Met180Leu)
n.325A>C
c.550A>C (p.Met184Leu)
1g.114684295T=CA1143782254AMPD1c.439A= (p.Met147=)
c.451A= (p.Met151=)
c.454A= (p.Met152=)
n.116A=
c.538A= (p.Met180=)
n.325A=
c.550A= (p.Met184=)
1g.114684296G>ACA419883513AMPD1c.438C>T (p.Tyr146=)
c.450C>T (p.Tyr150=)
c.453C>T (p.Tyr151=)
n.115C>T
c.537C>T (p.Tyr179=)
n.324C>T
c.549C>T (p.Tyr183=)
1g.114684296G>CCA341752660AMPD1c.438C>G (p.Tyr146Ter)
c.450C>G (p.Tyr150Ter)
c.453C>G (p.Tyr151Ter)
n.115C>G
c.537C>G (p.Tyr179Ter)
n.324C>G
c.549C>G (p.Tyr183Ter)
1g.114684296G>TCA341752661AMPD1c.438C>A (p.Tyr146Ter)
c.450C>A (p.Tyr150Ter)
c.453C>A (p.Tyr151Ter)
n.115C>A
c.537C>A (p.Tyr179Ter)
n.324C>A
c.549C>A (p.Tyr183Ter)
1g.114684297T>ACA341752663AMPD1c.437A>T (p.Tyr146Phe)
c.449A>T (p.Tyr150Phe)
c.452A>T (p.Tyr151Phe)
n.114A>T
c.536A>T (p.Tyr179Phe)
n.323A>T
c.548A>T (p.Tyr183Phe)
1g.114684297T>CCA341752664AMPD1c.437A>G (p.Tyr146Cys)
c.449A>G (p.Tyr150Cys)
c.452A>G (p.Tyr151Cys)
n.114A>G
c.536A>G (p.Tyr179Cys)
n.323A>G
c.548A>G (p.Tyr183Cys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.114684297T>GCA341752666AMPD1c.437A>C (p.Tyr146Ser)
c.449A>C (p.Tyr150Ser)
c.452A>C (p.Tyr151Ser)
n.114A>C
c.536A>C (p.Tyr179Ser)
n.323A>C
c.548A>C (p.Tyr183Ser)
1g.114684297T=CA1190281872AMPD1c.437A= (p.Tyr146=)
c.449A= (p.Tyr150=)
c.452A= (p.Tyr151=)
n.114A=
c.536A= (p.Tyr179=)
n.323A=
c.548A= (p.Tyr183=)
1g.114684298A=CA1190281877AMPD1c.436T= (p.Tyr146=)
c.448T= (p.Tyr150=)
c.451T= (p.Tyr151=)
n.113T=
c.535T= (p.Tyr179=)
n.322T=
c.547T= (p.Tyr183=)
1g.114684298A>CCA341752668AMPD1c.436T>G (p.Tyr146Asp)
c.448T>G (p.Tyr150Asp)
c.451T>G (p.Tyr151Asp)
n.113T>G
c.535T>G (p.Tyr179Asp)
n.322T>G
c.547T>G (p.Tyr183Asp)
1g.114684298A>GCA341752669AMPD1c.436T>C (p.Tyr146His)
c.448T>C (p.Tyr150His)
c.451T>C (p.Tyr151His)
n.113T>C
c.535T>C (p.Tyr179His)
n.322T>C
c.547T>C (p.Tyr183His)
 dbSNP gnomAD v3 gnomAD v4
1g.114684298A>TCA341752671AMPD1c.436T>A (p.Tyr146Asn)
c.448T>A (p.Tyr150Asn)
c.451T>A (p.Tyr151Asn)
n.113T>A
c.535T>A (p.Tyr179Asn)
n.322T>A
c.547T>A (p.Tyr183Asn)
1g.114684299T>ACA341752672AMPD1c.435A>T (p.Lys145Asn)
c.447A>T (p.Lys149Asn)
c.450A>T (p.Lys150Asn)
n.112A>T
c.534A>T (p.Lys178Asn)
n.321A>T
c.546A>T (p.Lys182Asn)
1g.114684299T>CCA419883514AMPD1c.435A>G (p.Lys145=)
c.447A>G (p.Lys149=)
c.450A>G (p.Lys150=)
n.112A>G
c.534A>G (p.Lys178=)
n.321A>G
c.546A>G (p.Lys182=)
1g.114684299T>GCA341752673AMPD1c.435A>C (p.Lys145Asn)
c.447A>C (p.Lys149Asn)
c.450A>C (p.Lys150Asn)
n.112A>C
c.534A>C (p.Lys178Asn)
n.321A>C
c.546A>C (p.Lys182Asn)
1g.114684300T>ACA341752679AMPD1c.434A>T (p.Lys145Ile)
c.446A>T (p.Lys149Ile)
c.449A>T (p.Lys150Ile)
n.111A>T
c.533A>T (p.Lys178Ile)
n.320A>T
c.545A>T (p.Lys182Ile)
1g.114684300T>CCA341752676AMPD1c.434A>G (p.Lys145Arg)
c.446A>G (p.Lys149Arg)
c.449A>G (p.Lys150Arg)
n.111A>G
c.533A>G (p.Lys178Arg)
n.320A>G
c.545A>G (p.Lys182Arg)
1g.114684300T>GCA341752678AMPD1c.434A>C (p.Lys145Thr)
c.446A>C (p.Lys149Thr)
c.449A>C (p.Lys150Thr)
n.111A>C
c.533A>C (p.Lys178Thr)
n.320A>C
c.545A>C (p.Lys182Thr)
1g.114684301T>ACA341752681AMPD1c.433A>T (p.Lys145Ter)
c.445A>T (p.Lys149Ter)
c.448A>T (p.Lys150Ter)
n.110A>T
c.532A>T (p.Lys178Ter)
n.319A>T
c.544A>T (p.Lys182Ter)
1g.114684301T>CCA341752683AMPD1c.433A>G (p.Lys145Glu)
c.445A>G (p.Lys149Glu)
c.448A>G (p.Lys150Glu)
n.110A>G
c.532A>G (p.Lys178Glu)
n.319A>G
c.544A>G (p.Lys182Glu)
1g.114684301T>GCA341752684AMPD1c.433A>C (p.Lys145Gln)
c.445A>C (p.Lys149Gln)
c.448A>C (p.Lys150Gln)
n.110A>C
c.532A>C (p.Lys178Gln)
n.319A>C
c.544A>C (p.Lys182Gln)
1g.114684302delCA645538667AMPD1c.432del (p.Lys145AsnfsTer27)
c.444del (p.Lys149AsnfsTer27)
c.447del (p.Lys150AsnfsTer27)
n.109del
c.531del (p.Lys178AsnfsTer27)
n.318del
c.543del (p.Lys182AsnfsTer27)
 COSMIC COSMIC
1g.114684302C>ACA341752686AMPD1c.432G>T (p.Glu144Asp)
c.444G>T (p.Glu148Asp)
c.447G>T (p.Glu149Asp)
n.109G>T
c.531G>T (p.Glu177Asp)
n.318G>T
c.543G>T (p.Glu181Asp)
 COSMIC COSMIC
1g.114684302C=CA1190281881AMPD1c.432G= (p.Glu144=)
c.444G= (p.Glu148=)
c.447G= (p.Glu149=)
n.109G=
c.531G= (p.Glu177=)
n.318G=
c.543G= (p.Glu181=)
1g.114684302C>GCA341752688AMPD1c.432G>C (p.Glu144Asp)
c.444G>C (p.Glu148Asp)
c.447G>C (p.Glu149Asp)
n.109G>C
c.531G>C (p.Glu177Asp)
n.318G>C
c.543G>C (p.Glu181Asp)
1g.114684302C>TCA419883515AMPD1c.432G>A (p.Glu144=)
c.444G>A (p.Glu148=)
c.447G>A (p.Glu149=)
n.109G>A
c.531G>A (p.Glu177=)
n.318G>A
c.543G>A (p.Glu181=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.114684303T>ACA341752689AMPD1c.431A>T (p.Glu144Val)
c.443A>T (p.Glu148Val)
c.446A>T (p.Glu149Val)
n.108A>T
c.530A>T (p.Glu177Val)
n.317A>T
c.542A>T (p.Glu181Val)
1g.114684303T>CCA341752691AMPD1c.431A>G (p.Glu144Gly)
c.443A>G (p.Glu148Gly)
c.446A>G (p.Glu149Gly)
n.108A>G
c.530A>G (p.Glu177Gly)
n.317A>G
c.542A>G (p.Glu181Gly)
1g.114684303T>GCA341752692AMPD1c.431A>C (p.Glu144Ala)
c.443A>C (p.Glu148Ala)
c.446A>C (p.Glu149Ala)
n.108A>C
c.530A>C (p.Glu177Ala)
n.317A>C
c.542A>C (p.Glu181Ala)
1g.114684304C>ACA341752694AMPD1c.430G>T (p.Glu144Ter)
c.442G>T (p.Glu148Ter)
c.445G>T (p.Glu149Ter)
n.107G>T
c.529G>T (p.Glu177Ter)
n.316G>T
c.541G>T (p.Glu181Ter)
1g.114684304C>GCA341752695AMPD1c.430G>C (p.Glu144Gln)
c.442G>C (p.Glu148Gln)
c.445G>C (p.Glu149Gln)
n.107G>C
c.529G>C (p.Glu177Gln)
n.316G>C
c.541G>C (p.Glu181Gln)
1g.114684304C>TCA341752697AMPD1c.430G>A (p.Glu144Lys)
c.442G>A (p.Glu148Lys)
c.445G>A (p.Glu149Lys)
n.107G>A
c.529G>A (p.Glu177Lys)
n.316G>A
c.541G>A (p.Glu181Lys)
 COSMIC COSMIC
1g.114684305A=CA1190281885AMPD1c.429T= (p.Arg143=)
c.441T= (p.Arg147=)
c.444T= (p.Arg148=)
n.106T=
c.528T= (p.Arg176=)
n.315T=
c.540T= (p.Arg180=)
1g.114684305A>CCA1020427AMPD1c.429T>G (p.Arg143=)
c.441T>G (p.Arg147=)
c.444T>G (p.Arg148=)
n.106T>G
c.528T>G (p.Arg176=)
n.315T>G
c.540T>G (p.Arg180=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.114684305A>GCA419883516AMPD1c.429T>C (p.Arg143=)
c.441T>C (p.Arg147=)
c.444T>C (p.Arg148=)
n.106T>C
c.528T>C (p.Arg176=)
n.315T>C
c.540T>C (p.Arg180=)
1g.114684305A>TCA419883517AMPD1c.429T>A (p.Arg143=)
c.441T>A (p.Arg147=)
c.444T>A (p.Arg148=)
n.106T>A
c.528T>A (p.Arg176=)
n.315T>A
c.540T>A (p.Arg180=)
1g.114684306C>ACA341752700AMPD1c.428G>T (p.Arg143Leu)
c.440G>T (p.Arg147Leu)
c.443G>T (p.Arg148Leu)
n.105G>T
c.527G>T (p.Arg176Leu)
n.314G>T
c.539G>T (p.Arg180Leu)
 gnomAD v4
1g.114684306C=CA1142204448AMPD1c.428G= (p.Arg143=)
c.440G= (p.Arg147=)
c.443G= (p.Arg148=)
n.105G=
c.527G= (p.Arg176=)
n.314G=
c.539G= (p.Arg180=)
1g.114684306C>GCA341752702AMPD1c.428G>C (p.Arg143Pro)
c.440G>C (p.Arg147Pro)
c.443G>C (p.Arg148Pro)
n.105G>C
c.527G>C (p.Arg176Pro)
n.314G>C
c.539G>C (p.Arg180Pro)
1g.114684306C>TCA1020428AMPD1c.428G>A (p.Arg143His)
c.440G>A (p.Arg147His)
c.443G>A (p.Arg148His)
n.105G>A
c.527G>A (p.Arg176His)
n.314G>A
c.539G>A (p.Arg180His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114684307G>ACA1020429AMPD1c.427C>T (p.Arg143Cys)
c.439C>T (p.Arg147Cys)
c.442C>T (p.Arg148Cys)
n.104C>T
c.526C>T (p.Arg176Cys)
n.313C>T
c.538C>T (p.Arg180Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114684307G>CCA341752704AMPD1c.427C>G (p.Arg143Gly)
c.439C>G (p.Arg147Gly)
c.442C>G (p.Arg148Gly)
n.104C>G
c.526C>G (p.Arg176Gly)
n.313C>G
c.538C>G (p.Arg180Gly)
 gnomAD v4
1g.114684307G=CA1142152816AMPD1c.427C= (p.Arg143=)
c.439C= (p.Arg147=)
c.442C= (p.Arg148=)
n.104C=
c.526C= (p.Arg176=)
n.313C=
c.538C= (p.Arg180=)
1g.114684307G>TCA341752706AMPD1c.427C>A (p.Arg143Ser)
c.439C>A (p.Arg147Ser)
c.442C>A (p.Arg148Ser)
n.104C>A
c.526C>A (p.Arg176Ser)
n.313C>A
c.538C>A (p.Arg180Ser)
1g.114684308T>ACA419883518AMPD1c.426A>T (p.Ile142=)
c.438A>T (p.Ile146=)
c.441A>T (p.Ile147=)
n.103A>T
c.525A>T (p.Ile175=)
n.312A>T
c.537A>T (p.Ile179=)
 COSMIC
1g.114684308T>CCA341752708AMPD1c.426A>G (p.Ile142Met)
c.438A>G (p.Ile146Met)
c.441A>G (p.Ile147Met)
n.103A>G
c.525A>G (p.Ile175Met)
n.312A>G
c.537A>G (p.Ile179Met)
1g.114684308T>GCA419883519AMPD1c.426A>C (p.Ile142=)
c.438A>C (p.Ile146=)
c.441A>C (p.Ile147=)
n.103A>C
c.525A>C (p.Ile175=)
n.312A>C
c.537A>C (p.Ile179=)
1g.114684309A=CA1190281895AMPD1c.425T= (p.Ile142=)
c.437T= (p.Ile146=)
c.440T= (p.Ile147=)
n.102T=
c.524T= (p.Ile175=)
n.311T=
c.536T= (p.Ile179=)
1g.114684309A>CCA341752709AMPD1c.425T>G (p.Ile142Arg)
c.437T>G (p.Ile146Arg)
c.440T>G (p.Ile147Arg)
n.102T>G
c.524T>G (p.Ile175Arg)
n.311T>G
c.536T>G (p.Ile179Arg)
1g.114684309A>GCA341752711AMPD1c.425T>C (p.Ile142Thr)
c.437T>C (p.Ile146Thr)
c.440T>C (p.Ile147Thr)
n.102T>C
c.524T>C (p.Ile175Thr)
n.311T>C
c.536T>C (p.Ile179Thr)
 dbSNP
1g.114684309A>TCA341752713AMPD1c.425T>A (p.Ile142Lys)
c.437T>A (p.Ile146Lys)
c.440T>A (p.Ile147Lys)
n.102T>A
c.524T>A (p.Ile175Lys)
n.311T>A
c.536T>A (p.Ile179Lys)
1g.114684310T>ACA341752714AMPD1c.424A>T (p.Ile142Leu)
c.436A>T (p.Ile146Leu)
c.439A>T (p.Ile147Leu)
n.101A>T
c.523A>T (p.Ile175Leu)
n.310A>T
c.535A>T (p.Ile179Leu)
1g.114684310T>CCA341752716AMPD1c.424A>G (p.Ile142Val)
c.436A>G (p.Ile146Val)
c.439A>G (p.Ile147Val)
n.101A>G
c.523A>G (p.Ile175Val)
n.310A>G
c.535A>G (p.Ile179Val)
 dbSNP gnomAD v2 gnomAD v4
1g.114684310T>GCA341752717AMPD1c.424A>C (p.Ile142Leu)
c.436A>C (p.Ile146Leu)
c.439A>C (p.Ile147Leu)
n.101A>C
c.523A>C (p.Ile175Leu)
n.310A>C
c.535A>C (p.Ile179Leu)
1g.114684310T=CA1190281900AMPD1c.424A= (p.Ile142=)
c.436A= (p.Ile146=)
c.439A= (p.Ile147=)
n.101A=
c.523A= (p.Ile175=)
n.310A=
c.535A= (p.Ile179=)
1g.114684311_114684312insTGTATCTGCA1190281901AMPD1c.424_425insGATACACA (p.Ile142ArgfsTer33)
c.436_437insGATACACA (p.Ile146ArgfsTer33)
c.439_440insGATACACA (p.Ile147ArgfsTer33)
n.101_102insGATACACA
c.523_524insGATACACA (p.Ile175ArgfsTer33)
n.310_311insGATACACA
c.535_536insGATACACA (p.Ile179ArgfsTer33)
 dbSNP
1g.114684311G>ACA419883520AMPD1c.423C>T (p.Cys141=)
c.435C>T (p.Cys145=)
c.438C>T (p.Cys146=)
n.100C>T
c.522C>T (p.Cys174=)
n.309C>T
c.534C>T (p.Cys178=)
 dbSNP
1g.114684311G>CCA341752719AMPD1c.423C>G (p.Cys141Trp)
c.435C>G (p.Cys145Trp)
c.438C>G (p.Cys146Trp)
n.100C>G
c.522C>G (p.Cys174Trp)
n.309C>G
c.534C>G (p.Cys178Trp)
1g.114684311G=CA1190281904AMPD1c.423C= (p.Cys141=)
c.435C= (p.Cys145=)
c.438C= (p.Cys146=)
n.100C=
c.522C= (p.Cys174=)
n.309C=
c.534C= (p.Cys178=)
1g.114684311G>TCA341752721AMPD1c.423C>A (p.Cys141Ter)
c.435C>A (p.Cys145Ter)
c.438C>A (p.Cys146Ter)
n.100C>A
c.522C>A (p.Cys174Ter)
n.309C>A
c.534C>A (p.Cys178Ter)
1g.114684312C>ACA341752724AMPD1c.422G>T (p.Cys141Phe)
c.434G>T (p.Cys145Phe)
c.437G>T (p.Cys146Phe)
n.99G>T
c.521G>T (p.Cys174Phe)
n.308G>T
c.533G>T (p.Cys178Phe)
1g.114684312C>GCA341752726AMPD1c.422G>C (p.Cys141Ser)
c.434G>C (p.Cys145Ser)
c.437G>C (p.Cys146Ser)
n.99G>C
c.521G>C (p.Cys174Ser)
n.308G>C
c.533G>C (p.Cys178Ser)
1g.114684312C>TCA341752723AMPD1c.422G>A (p.Cys141Tyr)
c.434G>A (p.Cys145Tyr)
c.437G>A (p.Cys146Tyr)
n.99G>A
c.521G>A (p.Cys174Tyr)
n.308G>A
c.533G>A (p.Cys178Tyr)
1g.114684313A=CA1190281907AMPD1c.421T= (p.Cys141=)
c.433T= (p.Cys145=)
c.436T= (p.Cys146=)
n.98T=
c.520T= (p.Cys174=)
n.307T=
c.532T= (p.Cys178=)
1g.114684313A>CCA1020430AMPD1c.421T>G (p.Cys141Gly)
c.433T>G (p.Cys145Gly)
c.436T>G (p.Cys146Gly)
n.98T>G
c.520T>G (p.Cys174Gly)
n.307T>G
c.532T>G (p.Cys178Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.114684313A>GCA341752729AMPD1c.421T>C (p.Cys141Arg)
c.433T>C (p.Cys145Arg)
c.436T>C (p.Cys146Arg)
n.98T>C
c.520T>C (p.Cys174Arg)
n.307T>C
c.532T>C (p.Cys178Arg)
1g.114684313A>TCA341752730AMPD1c.421T>A (p.Cys141Ser)
c.433T>A (p.Cys145Ser)
c.436T>A (p.Cys146Ser)
n.98T>A
c.520T>A (p.Cys174Ser)
n.307T>A
c.532T>A (p.Cys178Ser)
 gnomAD v4
1g.114684313dupCA2696723108AMPD1c.421dup (p.Cys141LeufsTer4)
c.433dup (p.Cys145LeufsTer4)
c.436dup (p.Cys146LeufsTer4)
n.98dup
c.520dup (p.Cys174LeufsTer4)
n.307dup
c.532dup (p.Cys178LeufsTer4)
 dbSNP
1g.114684314T>ACA419883521AMPD1c.420A>T (p.Leu140=)
c.432A>T (p.Leu144=)
c.435A>T (p.Leu145=)
n.97A>T
c.519A>T (p.Leu173=)
n.306A>T
c.531A>T (p.Leu177=)
1g.114684314T>CCA1020431AMPD1c.420A>G (p.Leu140=)
c.432A>G (p.Leu144=)
c.435A>G (p.Leu145=)
n.97A>G
c.519A>G (p.Leu173=)
n.306A>G
c.531A>G (p.Leu177=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.114684314T>GCA419883522AMPD1c.420A>C (p.Leu140=)
c.432A>C (p.Leu144=)
c.435A>C (p.Leu145=)
n.97A>C
c.519A>C (p.Leu173=)
n.306A>C
c.531A>C (p.Leu177=)
1g.114684314T=CA1190281909AMPD1c.420A= (p.Leu140=)
c.432A= (p.Leu144=)
c.435A= (p.Leu145=)
n.97A=
c.519A= (p.Leu173=)
n.306A=
c.531A= (p.Leu177=)
1g.114684315A=CA1190281911AMPD1c.419T= (p.Leu140=)
c.431T= (p.Leu144=)
c.434T= (p.Leu145=)
n.96T=
c.518T= (p.Leu173=)
n.305T=
c.530T= (p.Leu177=)
1g.114684315A>CCA341752732AMPD1c.419T>G (p.Leu140Arg)
c.431T>G (p.Leu144Arg)
c.434T>G (p.Leu145Arg)
n.96T>G
c.518T>G (p.Leu173Arg)
n.305T>G
c.530T>G (p.Leu177Arg)
 dbSNP
1g.114684315A>GCA341752733AMPD1c.419T>C (p.Leu140Pro)
c.431T>C (p.Leu144Pro)
c.434T>C (p.Leu145Pro)
n.96T>C
c.518T>C (p.Leu173Pro)
n.305T>C
c.530T>C (p.Leu177Pro)
1g.114684315A>TCA341752734AMPD1c.419T>A (p.Leu140Gln)
c.431T>A (p.Leu144Gln)
c.434T>A (p.Leu145Gln)
n.96T>A
c.518T>A (p.Leu173Gln)
n.305T>A
c.530T>A (p.Leu177Gln)
 gnomAD v4
1g.114684316G>ACA419883523AMPD1c.418C>T (p.Leu140=)
c.430C>T (p.Leu144=)
c.433C>T (p.Leu145=)
n.95C>T
c.517C>T (p.Leu173=)
n.304C>T
c.529C>T (p.Leu177=)
1g.114684316G>CCA29060071AMPD1c.418C>G (p.Leu140Val)
c.430C>G (p.Leu144Val)
c.433C>G (p.Leu145Val)
n.95C>G
c.517C>G (p.Leu173Val)
n.304C>G
c.529C>G (p.Leu177Val)
 dbSNP gnomAD v2 gnomAD v4
1g.114684316G=CA1190281916AMPD1c.418C= (p.Leu140=)
c.430C= (p.Leu144=)
c.433C= (p.Leu145=)
n.95C=
c.517C= (p.Leu173=)
n.304C=
c.529C= (p.Leu177=)
1g.114684316G>TCA341752735AMPD1c.418C>A (p.Leu140Ile)
c.430C>A (p.Leu144Ile)
c.433C>A (p.Leu145Ile)
n.95C>A
c.517C>A (p.Leu173Ile)
n.304C>A
c.529C>A (p.Leu177Ile)
1g.114684317T>ACA419883524AMPD1c.417A>T (p.Ala139=)
c.429A>T (p.Ala143=)
c.432A>T (p.Ala144=)
n.94A>T
c.516A>T (p.Ala172=)
n.303A>T
c.528A>T (p.Ala176=)
1g.114684317T>CCA419883525AMPD1c.417A>G (p.Ala139=)
c.429A>G (p.Ala143=)
c.432A>G (p.Ala144=)
n.94A>G
c.516A>G (p.Ala172=)
n.303A>G
c.528A>G (p.Ala176=)
1g.114684317T>GCA419883526AMPD1c.417A>C (p.Ala139=)
c.429A>C (p.Ala143=)
c.432A>C (p.Ala144=)
n.94A>C
c.516A>C (p.Ala172=)
n.303A>C
c.528A>C (p.Ala176=)
 gnomAD v4
1g.114684318G>ACA341752737AMPD1c.416C>T (p.Ala139Val)
c.428C>T (p.Ala143Val)
c.431C>T (p.Ala144Val)
n.93C>T
c.515C>T (p.Ala172Val)
n.302C>T
c.527C>T (p.Ala176Val)
 gnomAD v4
1g.114684318G>CCA341752739AMPD1c.416C>G (p.Ala139Gly)
c.428C>G (p.Ala143Gly)
c.431C>G (p.Ala144Gly)
n.93C>G
c.515C>G (p.Ala172Gly)
n.302C>G
c.527C>G (p.Ala176Gly)
1g.114684318G>TCA341752740AMPD1c.416C>A (p.Ala139Glu)
c.428C>A (p.Ala143Glu)
c.431C>A (p.Ala144Glu)
n.93C>A
c.515C>A (p.Ala172Glu)
n.302C>A
c.527C>A (p.Ala176Glu)
 ClinVar
1g.114684319C>ACA341752742AMPD1c.415G>T (p.Ala139Ser)
c.427G>T (p.Ala143Ser)
c.430G>T (p.Ala144Ser)
n.92G>T
c.514G>T (p.Ala172Ser)
n.301G>T
c.526G>T (p.Ala176Ser)
1g.114684319C>GCA341752743AMPD1c.415G>C (p.Ala139Pro)
c.427G>C (p.Ala143Pro)
c.430G>C (p.Ala144Pro)
n.92G>C
c.514G>C (p.Ala172Pro)
n.301G>C
c.526G>C (p.Ala176Pro)
1g.114684319C>TCA341752745AMPD1c.415G>A (p.Ala139Thr)
c.427G>A (p.Ala143Thr)
c.430G>A (p.Ala144Thr)
n.92G>A
c.514G>A (p.Ala172Thr)
n.301G>A
c.526G>A (p.Ala176Thr)
1g.114684320C>ACA419883527AMPD1c.414G>T (p.Arg138=)
c.426G>T (p.Arg142=)
c.429G>T (p.Arg143=)
n.91G>T
c.513G>T (p.Arg171=)
n.300G>T
c.525G>T (p.Arg175=)
1g.114684320C>GCA419883528AMPD1c.414G>C (p.Arg138=)
c.426G>C (p.Arg142=)
c.429G>C (p.Arg143=)
n.91G>C
c.513G>C (p.Arg171=)
n.300G>C
c.525G>C (p.Arg175=)
1g.114684320C>TCA419883529AMPD1c.414G>A (p.Arg138=)
c.426G>A (p.Arg142=)
c.429G>A (p.Arg143=)
n.91G>A
c.513G>A (p.Arg171=)
n.300G>A
c.525G>A (p.Arg175=)
1g.114684321C>ACA341752747AMPD1c.413G>T (p.Arg138Leu)
c.425G>T (p.Arg142Leu)
c.428G>T (p.Arg143Leu)
n.90G>T
c.512G>T (p.Arg171Leu)
n.299G>T
c.524G>T (p.Arg175Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.114684321C=CA1146807882AMPD1c.413G= (p.Arg138=)
c.425G= (p.Arg142=)
c.428G= (p.Arg143=)
n.90G=
c.512G= (p.Arg171=)
n.299G=
c.524G= (p.Arg175=)
1g.114684321C>GCA341752749AMPD1c.413G>C (p.Arg138Pro)
c.425G>C (p.Arg142Pro)
c.428G>C (p.Arg143Pro)
n.90G>C
c.512G>C (p.Arg171Pro)
n.299G>C
c.524G>C (p.Arg175Pro)
1g.114684321C>TCA1020432AMPD1c.413G>A (p.Arg138Gln)
c.425G>A (p.Arg142Gln)
c.428G>A (p.Arg143Gln)
n.90G>A
c.512G>A (p.Arg171Gln)
n.299G>A
c.524G>A (p.Arg175Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.114684322G>ACA1020433AMPD1c.412C>T (p.Arg138Trp)
c.424C>T (p.Arg142Trp)
c.427C>T (p.Arg143Trp)
n.89C>T
c.511C>T (p.Arg171Trp)
n.298C>T
c.523C>T (p.Arg175Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114684322G>CCA341752750AMPD1c.412C>G (p.Arg138Gly)
c.424C>G (p.Arg142Gly)
c.427C>G (p.Arg143Gly)
n.89C>G
c.511C>G (p.Arg171Gly)
n.298C>G
c.523C>G (p.Arg175Gly)
1g.114684322G=CA1143698227AMPD1c.412C= (p.Arg138=)
c.424C= (p.Arg142=)
c.427C= (p.Arg143=)
n.89C=
c.511C= (p.Arg171=)
n.298C=
c.523C= (p.Arg175=)
1g.114684322G>TCA419883530AMPD1c.412C>A (p.Arg138=)
c.424C>A (p.Arg142=)
c.427C>A (p.Arg143=)
n.89C>A
c.511C>A (p.Arg171=)
n.298C>A
c.523C>A (p.Arg175=)
1g.114684323A>CCA341752753AMPD1c.411T>G (p.Tyr137Ter)
c.423T>G (p.Tyr141Ter)
c.426T>G (p.Tyr142Ter)
n.88T>G
c.510T>G (p.Tyr170Ter)
n.297T>G
c.522T>G (p.Tyr174Ter)
1g.114684323A>GCA419883531AMPD1c.411T>C (p.Tyr137=)
c.423T>C (p.Tyr141=)
c.426T>C (p.Tyr142=)
n.88T>C
c.510T>C (p.Tyr170=)
n.297T>C
c.522T>C (p.Tyr174=)
 gnomAD v4
1g.114684323A>TCA341752754AMPD1c.411T>A (p.Tyr137Ter)
c.423T>A (p.Tyr141Ter)
c.426T>A (p.Tyr142Ter)
n.88T>A
c.510T>A (p.Tyr170Ter)
n.297T>A
c.522T>A (p.Tyr174Ter)
1g.114684324T>ACA341752755AMPD1c.410A>T (p.Tyr137Phe)
c.422A>T (p.Tyr141Phe)
c.425A>T (p.Tyr142Phe)
n.87A>T
c.509A>T (p.Tyr170Phe)
n.296A>T
c.521A>T (p.Tyr174Phe)
1g.114684324T>CCA341752756AMPD1c.410A>G (p.Tyr137Cys)
c.422A>G (p.Tyr141Cys)
c.425A>G (p.Tyr142Cys)
n.87A>G
c.509A>G (p.Tyr170Cys)
n.296A>G
c.521A>G (p.Tyr174Cys)
 dbSNP gnomAD v3 gnomAD v4
1g.114684324T>GCA341752758AMPD1c.410A>C (p.Tyr137Ser)
c.422A>C (p.Tyr141Ser)
c.425A>C (p.Tyr142Ser)
n.87A>C
c.509A>C (p.Tyr170Ser)
n.296A>C
c.521A>C (p.Tyr174Ser)
1g.114684324T=CA1190281928AMPD1c.410A= (p.Tyr137=)
c.422A= (p.Tyr141=)
c.425A= (p.Tyr142=)
n.87A=
c.509A= (p.Tyr170=)
n.296A=
c.521A= (p.Tyr174=)
1g.114684325A>CCA341752759AMPD1c.409T>G (p.Tyr137Asp)
c.421T>G (p.Tyr141Asp)
c.424T>G (p.Tyr142Asp)
n.86T>G
c.508T>G (p.Tyr170Asp)
n.295T>G
c.520T>G (p.Tyr174Asp)
1g.114684325A>GCA341752761AMPD1c.409T>C (p.Tyr137His)
c.421T>C (p.Tyr141His)
c.424T>C (p.Tyr142His)
n.86T>C
c.508T>C (p.Tyr170His)
n.295T>C
c.520T>C (p.Tyr174His)
1g.114684325A>TCA341752763AMPD1c.409T>A (p.Tyr137Asn)
c.421T>A (p.Tyr141Asn)
c.424T>A (p.Tyr142Asn)
n.86T>A
c.508T>A (p.Tyr170Asn)
n.295T>A
c.520T>A (p.Tyr174Asn)
1g.114684326C>ACA419883532AMPD1c.408G>T (p.Leu136=)
c.420G>T (p.Leu140=)
c.423G>T (p.Leu141=)
n.85G>T
c.507G>T (p.Leu169=)
n.294G>T
c.519G>T (p.Leu173=)
1g.114684326C=CA1190281930AMPD1c.408G= (p.Leu136=)
c.420G= (p.Leu140=)
c.423G= (p.Leu141=)
n.85G=
c.507G= (p.Leu169=)
n.294G=
c.519G= (p.Leu173=)
1g.114684326C>GCA419883533AMPD1c.408G>C (p.Leu136=)
c.420G>C (p.Leu140=)
c.423G>C (p.Leu141=)
n.85G>C
c.507G>C (p.Leu169=)
n.294G>C
c.519G>C (p.Leu173=)
1g.114684326C>TCA1020434AMPD1c.408G>A (p.Leu136=)
c.420G>A (p.Leu140=)
c.423G>A (p.Leu141=)
n.85G>A
c.507G>A (p.Leu169=)
n.294G>A
c.519G>A (p.Leu173=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114684327A>CCA341752765AMPD1c.407T>G (p.Leu136Arg)
c.419T>G (p.Leu140Arg)
c.422T>G (p.Leu141Arg)
n.84T>G
c.506T>G (p.Leu169Arg)
n.293T>G
c.518T>G (p.Leu173Arg)
1g.114684327A>GCA341752766AMPD1c.407T>C (p.Leu136Pro)
c.419T>C (p.Leu140Pro)
c.422T>C (p.Leu141Pro)
n.84T>C
c.506T>C (p.Leu169Pro)
n.293T>C
c.518T>C (p.Leu173Pro)
1g.114684327A>TCA341752767AMPD1c.407T>A (p.Leu136Gln)
c.419T>A (p.Leu140Gln)
c.422T>A (p.Leu141Gln)
n.84T>A
c.506T>A (p.Leu169Gln)
n.293T>A
c.518T>A (p.Leu173Gln)
1g.114684328G>ACA419883534AMPD1c.406C>T (p.Leu136=)
c.418C>T (p.Leu140=)
c.421C>T (p.Leu141=)
n.83C>T
c.505C>T (p.Leu169=)
n.292C>T
c.517C>T (p.Leu173=)
1g.114684328G>CCA341752770AMPD1c.406C>G (p.Leu136Val)
c.418C>G (p.Leu140Val)
c.421C>G (p.Leu141Val)
n.83C>G
c.505C>G (p.Leu169Val)
n.292C>G
c.517C>G (p.Leu173Val)
 COSMIC COSMIC
1g.114684328G>TCA341752769AMPD1c.406C>A (p.Leu136Met)
c.418C>A (p.Leu140Met)
c.421C>A (p.Leu141Met)
n.83C>A
c.505C>A (p.Leu169Met)
n.292C>A
c.517C>A (p.Leu173Met)
1g.114684329A>CCA419883535AMPD1c.405T>G (p.Gly135=)
c.417T>G (p.Gly139=)
c.420T>G (p.Gly140=)
n.82T>G
c.504T>G (p.Gly168=)
n.291T>G
c.516T>G (p.Gly172=)
1g.114684329A>GCA419883537AMPD1c.405T>C (p.Gly135=)
c.417T>C (p.Gly139=)
c.420T>C (p.Gly140=)
n.82T>C
c.504T>C (p.Gly168=)
n.291T>C
c.516T>C (p.Gly172=)
1g.114684329A>TCA419883536AMPD1c.405T>A (p.Gly135=)
c.417T>A (p.Gly139=)
c.420T>A (p.Gly140=)
n.82T>A
c.504T>A (p.Gly168=)
n.291T>A
c.516T>A (p.Gly172=)
1g.114684330C>ACA341752771AMPD1c.404G>T (p.Gly135Val)
c.416G>T (p.Gly139Val)
c.419G>T (p.Gly140Val)
n.81G>T
c.503G>T (p.Gly168Val)
n.290G>T
c.515G>T (p.Gly172Val)
 dbSNP gnomAD v2 gnomAD v4
1g.114684330C=CA1190281935AMPD1c.404G= (p.Gly135=)
c.416G= (p.Gly139=)
c.419G= (p.Gly140=)
n.81G=
c.503G= (p.Gly168=)
n.290G=
c.515G= (p.Gly172=)
1g.114684330C>GCA341752773AMPD1c.404G>C (p.Gly135Ala)
c.416G>C (p.Gly139Ala)
c.419G>C (p.Gly140Ala)
n.81G>C
c.503G>C (p.Gly168Ala)
n.290G>C
c.515G>C (p.Gly172Ala)
1g.114684330C>TCA341752774AMPD1c.404G>A (p.Gly135Asp)
c.416G>A (p.Gly139Asp)
c.419G>A (p.Gly140Asp)
n.81G>A
c.503G>A (p.Gly168Asp)
n.290G>A
c.515G>A (p.Gly172Asp)
 gnomAD v4
1g.114684331C>ACA341752776AMPD1c.403G>T (p.Gly135Cys)
c.415G>T (p.Gly139Cys)
c.418G>T (p.Gly140Cys)
n.80G>T
c.502G>T (p.Gly168Cys)
n.289G>T
c.514G>T (p.Gly172Cys)
1g.114684331C>GCA341752778AMPD1c.403G>C (p.Gly135Arg)
c.415G>C (p.Gly139Arg)
c.418G>C (p.Gly140Arg)
n.80G>C
c.502G>C (p.Gly168Arg)
n.289G>C
c.514G>C (p.Gly172Arg)
1g.114684331C>TCA341752779AMPD1c.403G>A (p.Gly135Ser)
c.415G>A (p.Gly139Ser)
c.418G>A (p.Gly140Ser)
n.80G>A
c.502G>A (p.Gly168Ser)
n.289G>A
c.514G>A (p.Gly172Ser)
 gnomAD v4
1g.114684332T>ACA341752781AMPD1c.402A>T (p.Lys134Asn)
c.414A>T (p.Lys138Asn)
c.417A>T (p.Lys139Asn)
n.79A>T
c.501A>T (p.Lys167Asn)
n.288A>T
c.513A>T (p.Lys171Asn)
1g.114684332T>CCA419883538AMPD1c.402A>G (p.Lys134=)
c.414A>G (p.Lys138=)
c.417A>G (p.Lys139=)
n.79A>G
c.501A>G (p.Lys167=)
n.288A>G
c.513A>G (p.Lys171=)
1g.114684332T>GCA341752783AMPD1c.402A>C (p.Lys134Asn)
c.414A>C (p.Lys138Asn)
c.417A>C (p.Lys139Asn)
n.79A>C
c.501A>C (p.Lys167Asn)
n.288A>C
c.513A>C (p.Lys171Asn)
1g.114684333T>ACA341752784AMPD1c.401A>T (p.Lys134Ile)
c.413A>T (p.Lys138Ile)
c.416A>T (p.Lys139Ile)
n.78A>T
c.500A>T (p.Lys167Ile)
n.287A>T
c.512A>T (p.Lys171Ile)
1g.114684333T>CCA341752785AMPD1c.401A>G (p.Lys134Arg)
c.413A>G (p.Lys138Arg)
c.416A>G (p.Lys139Arg)
n.78A>G
c.500A>G (p.Lys167Arg)
n.287A>G
c.512A>G (p.Lys171Arg)
 COSMIC COSMIC
1g.114684333T>GCA341752787AMPD1c.401A>C (p.Lys134Thr)
c.413A>C (p.Lys138Thr)
c.416A>C (p.Lys139Thr)
n.78A>C
c.500A>C (p.Lys167Thr)
n.287A>C
c.512A>C (p.Lys171Thr)
 gnomAD v4
1g.114684334T>ACA341752789AMPD1c.400A>T (p.Lys134Ter)
c.412A>T (p.Lys138Ter)
c.415A>T (p.Lys139Ter)
n.77A>T
c.499A>T (p.Lys167Ter)
n.286A>T
c.511A>T (p.Lys171Ter)
1g.114684334T>CCA341752790AMPD1c.400A>G (p.Lys134Glu)
c.412A>G (p.Lys138Glu)
c.415A>G (p.Lys139Glu)
n.77A>G
c.499A>G (p.Lys167Glu)
n.286A>G
c.511A>G (p.Lys171Glu)
1g.114684334T>GCA341752791AMPD1c.400A>C (p.Lys134Gln)
c.412A>C (p.Lys138Gln)
c.415A>C (p.Lys139Gln)
n.77A>C
c.499A>C (p.Lys167Gln)
n.286A>C
c.511A>C (p.Lys171Gln)
1g.114684335G>ACA419883539AMPD1c.399C>T (p.Cys133=)
c.411C>T (p.Cys137=)
c.414C>T (p.Cys138=)
n.76C>T
c.498C>T (p.Cys166=)
n.285C>T
c.510C>T (p.Cys170=)
1g.114684335G>CCA341752794AMPD1c.399C>G (p.Cys133Trp)
c.411C>G (p.Cys137Trp)
c.414C>G (p.Cys138Trp)
n.76C>G
c.498C>G (p.Cys166Trp)
n.285C>G
c.510C>G (p.Cys170Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.114684335G=CA1190281942AMPD1c.399C= (p.Cys133=)
c.411C= (p.Cys137=)
c.414C= (p.Cys138=)
n.76C=
c.498C= (p.Cys166=)
n.285C=
c.510C= (p.Cys170=)
1g.114684335G>TCA341752792AMPD1c.399C>A (p.Cys133Ter)
c.411C>A (p.Cys137Ter)
c.414C>A (p.Cys138Ter)
n.76C>A
c.498C>A (p.Cys166Ter)
n.285C>A
c.510C>A (p.Cys170Ter)
1g.114684336C>ACA341752796AMPD1c.398G>T (p.Cys133Phe)
c.410G>T (p.Cys137Phe)
c.413G>T (p.Cys138Phe)
n.75G>T
c.497G>T (p.Cys166Phe)
n.284G>T
c.509G>T (p.Cys170Phe)
1g.114684336C>GCA341752798AMPD1c.398G>C (p.Cys133Ser)
c.410G>C (p.Cys137Ser)
c.413G>C (p.Cys138Ser)
n.75G>C
c.497G>C (p.Cys166Ser)
n.284G>C
c.509G>C (p.Cys170Ser)
1g.114684336C>TCA341752799AMPD1c.398G>A (p.Cys133Tyr)
c.410G>A (p.Cys137Tyr)
c.413G>A (p.Cys138Tyr)
n.75G>A
c.497G>A (p.Cys166Tyr)
n.284G>A
c.509G>A (p.Cys170Tyr)
1g.114684337A>CCA341752801AMPD1c.397T>G (p.Cys133Gly)
c.409T>G (p.Cys137Gly)
c.412T>G (p.Cys138Gly)
n.74T>G
c.496T>G (p.Cys166Gly)
n.283T>G
c.508T>G (p.Cys170Gly)
1g.114684337A>GCA341752802AMPD1c.397T>C (p.Cys133Arg)
c.409T>C (p.Cys137Arg)
c.412T>C (p.Cys138Arg)
n.74T>C
c.496T>C (p.Cys166Arg)
n.283T>C
c.508T>C (p.Cys170Arg)
 gnomAD v4
1g.114684337A>TCA341752804AMPD1c.397T>A (p.Cys133Ser)
c.409T>A (p.Cys137Ser)
c.412T>A (p.Cys138Ser)
n.74T>A
c.496T>A (p.Cys166Ser)
n.283T>A
c.508T>A (p.Cys170Ser)
1g.114684338A>CCA419883540AMPD1c.396T>G (p.Val132=)
c.408T>G (p.Val136=)
c.411T>G (p.Val137=)
n.73T>G
c.495T>G (p.Val165=)
n.282T>G
c.507T>G (p.Val169=)
1g.114684338A>GCA419883541AMPD1c.396T>C (p.Val132=)
c.408T>C (p.Val136=)
c.411T>C (p.Val137=)
n.73T>C
c.495T>C (p.Val165=)
n.282T>C
c.507T>C (p.Val169=)
1g.114684338A>TCA419883542AMPD1c.396T>A (p.Val132=)
c.408T>A (p.Val136=)
c.411T>A (p.Val137=)
n.73T>A
c.495T>A (p.Val165=)
n.282T>A
c.507T>A (p.Val169=)
1g.114684339A>CCA341752808AMPD1c.395T>G (p.Val132Gly)
c.407T>G (p.Val136Gly)
c.410T>G (p.Val137Gly)
n.72T>G
c.494T>G (p.Val165Gly)
n.281T>G
c.506T>G (p.Val169Gly)
1g.114684339A>GCA341752806AMPD1c.395T>C (p.Val132Ala)
c.407T>C (p.Val136Ala)
c.410T>C (p.Val137Ala)
n.72T>C
c.494T>C (p.Val165Ala)
n.281T>C
c.506T>C (p.Val169Ala)
1g.114684339A>TCA341752807AMPD1c.395T>A (p.Val132Asp)
c.407T>A (p.Val136Asp)
c.410T>A (p.Val137Asp)
n.72T>A
c.494T>A (p.Val165Asp)
n.281T>A
c.506T>A (p.Val169Asp)
1g.114684340C>ACA341752810AMPD1c.394G>T (p.Val132Phe)
c.406G>T (p.Val136Phe)
c.409G>T (p.Val137Phe)
n.71G>T
c.493G>T (p.Val165Phe)
n.280G>T
c.505G>T (p.Val169Phe)
 gnomAD v4 COSMIC COSMIC
1g.114684340C=CA1190281947AMPD1c.394G= (p.Val132=)
c.406G= (p.Val136=)
c.409G= (p.Val137=)
n.71G=
c.493G= (p.Val165=)
n.280G=
c.505G= (p.Val169=)
1g.114684340C>GCA1020436AMPD1c.394G>C (p.Val132Leu)
c.406G>C (p.Val136Leu)
c.409G>C (p.Val137Leu)
n.71G>C
c.493G>C (p.Val165Leu)
n.280G>C
c.505G>C (p.Val169Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.114684340C>TCA341752812AMPD1c.394G>A (p.Val132Ile)
c.406G>A (p.Val136Ile)
c.409G>A (p.Val137Ile)
n.71G>A
c.493G>A (p.Val165Ile)
n.280G>A
c.505G>A (p.Val169Ile)
 gnomAD v4
1g.114684340_114684341delinsCACA1190281945AMPD1c.393_394delinsTG (p.Ile131=)
c.405_406delinsTG (p.Ile135=)
c.408_409delinsTG (p.Ile136=)
n.70_71delinsTG
c.492_493delinsTG (p.Ile164=)
n.279_280delinsTG
c.504_505delinsTG (p.Ile168=)
1g.114684341A=CA1190281951AMPD1c.393T= (p.Ile131=)
c.405T= (p.Ile135=)
c.408T= (p.Ile136=)
n.70T=
c.492T= (p.Ile164=)
n.279T=
c.504T= (p.Ile168=)
1g.114684341A>CCA341752814AMPD1c.393T>G (p.Ile131Met)
c.405T>G (p.Ile135Met)
c.408T>G (p.Ile136Met)
n.70T>G
c.492T>G (p.Ile164Met)
n.279T>G
c.504T>G (p.Ile168Met)
 dbSNP
1g.114684341A>GCA419883544AMPD1c.393T>C (p.Ile131=)
c.405T>C (p.Ile135=)
c.408T>C (p.Ile136=)
n.70T>C
c.492T>C (p.Ile164=)
n.279T>C
c.504T>C (p.Ile168=)
1g.114684341A>TCA419883543AMPD1c.393T>A (p.Ile131=)
c.405T>A (p.Ile135=)
c.408T>A (p.Ile136=)
n.70T>A
c.492T>A (p.Ile164=)
n.279T>A
c.504T>A (p.Ile168=)
1g.114684341_114684342delinsAACA1148295161AMPD1c.392_393delinsTT (p.Ile131=)
c.404_405delinsTT (p.Ile135=)
c.407_408delinsTT (p.Ile136=)
n.69_70delinsTT
c.491_492delinsTT (p.Ile164=)
n.278_279delinsTT
c.503_504delinsTT (p.Ile168=)
1g.114684342delCA1020435AMPD1c.393del (p.Ile131MetfsTer?)
c.405del (p.Ile135MetfsTer?)
c.408del (p.Ile136MetfsTer?)
n.70del
c.492del (p.Ile164MetfsTer?)
n.279del
c.504del (p.Ile168MetfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114684342A>CCA341752819AMPD1c.392T>G (p.Ile131Ser)
c.404T>G (p.Ile135Ser)
c.407T>G (p.Ile136Ser)
n.69T>G
c.491T>G (p.Ile164Ser)
n.278T>G
c.503T>G (p.Ile168Ser)
1g.114684342A>GCA341752816AMPD1c.392T>C (p.Ile131Thr)
c.404T>C (p.Ile135Thr)
c.407T>C (p.Ile136Thr)
n.69T>C
c.491T>C (p.Ile164Thr)
n.278T>C
c.503T>C (p.Ile168Thr)
1g.114684342A>TCA341752818AMPD1c.392T>A (p.Ile131Asn)
c.404T>A (p.Ile135Asn)
c.407T>A (p.Ile136Asn)
n.69T>A
c.491T>A (p.Ile164Asn)
n.278T>A
c.503T>A (p.Ile168Asn)
1g.114684343T>ACA341752820AMPD1c.391A>T (p.Ile131Phe)
c.403A>T (p.Ile135Phe)
c.406A>T (p.Ile136Phe)
n.68A>T
c.490A>T (p.Ile164Phe)
n.277A>T
c.502A>T (p.Ile168Phe)
1g.114684343T>CCA341752822AMPD1c.391A>G (p.Ile131Val)
c.403A>G (p.Ile135Val)
c.406A>G (p.Ile136Val)
n.68A>G
c.490A>G (p.Ile164Val)
n.277A>G
c.502A>G (p.Ile168Val)
1g.114684343T>GCA341752823AMPD1c.391A>C (p.Ile131Leu)
c.403A>C (p.Ile135Leu)
c.406A>C (p.Ile136Leu)
n.68A>C
c.490A>C (p.Ile164Leu)
n.277A>C
c.502A>C (p.Ile168Leu)
1g.114684344T>ACA341752824AMPD1c.390A>T (p.Glu130Asp)
c.402A>T (p.Glu134Asp)
c.405A>T (p.Glu135Asp)
n.67A>T
c.489A>T (p.Glu163Asp)
n.276A>T
c.501A>T (p.Glu167Asp)
1g.114684344T>CCA419883545AMPD1c.390A>G (p.Glu130=)
c.402A>G (p.Glu134=)
c.405A>G (p.Glu135=)
n.67A>G
c.489A>G (p.Glu163=)
n.276A>G
c.501A>G (p.Glu167=)
1g.114684344T>GCA341752826AMPD1c.390A>C (p.Glu130Asp)
c.402A>C (p.Glu134Asp)
c.405A>C (p.Glu135Asp)
n.67A>C
c.489A>C (p.Glu163Asp)
n.276A>C
c.501A>C (p.Glu167Asp)
1g.114684345T>ACA341752827AMPD1c.389A>T (p.Glu130Val)
c.401A>T (p.Glu134Val)
c.404A>T (p.Glu135Val)
n.66A>T
c.488A>T (p.Glu163Val)
n.275A>T
c.500A>T (p.Glu167Val)
1g.114684345T>CCA341752828AMPD1c.389A>G (p.Glu130Gly)
c.401A>G (p.Glu134Gly)
c.404A>G (p.Glu135Gly)
n.66A>G
c.488A>G (p.Glu163Gly)
n.275A>G
c.500A>G (p.Glu167Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.114684345T>GCA341752830AMPD1c.389A>C (p.Glu130Ala)
c.401A>C (p.Glu134Ala)
c.404A>C (p.Glu135Ala)
n.66A>C
c.488A>C (p.Glu163Ala)
n.275A>C
c.500A>C (p.Glu167Ala)
1g.114684345T=CA1190281954AMPD1c.389A= (p.Glu130=)
c.401A= (p.Glu134=)
c.404A= (p.Glu135=)
n.66A=
c.488A= (p.Glu163=)
n.275A=
c.500A= (p.Glu167=)
1g.114684346C>ACA341752831AMPD1c.388G>T (p.Glu130Ter)
c.400G>T (p.Glu134Ter)
c.403G>T (p.Glu135Ter)
n.65G>T
c.487G>T (p.Glu163Ter)
n.274G>T
c.499G>T (p.Glu167Ter)
 dbSNP gnomAD v2
1g.114684346C=CA1190281955AMPD1c.388G= (p.Glu130=)
c.400G= (p.Glu134=)
c.403G= (p.Glu135=)
n.65G=
c.487G= (p.Glu163=)
n.274G=
c.499G= (p.Glu167=)
1g.114684346C>GCA341752832AMPD1c.388G>C (p.Glu130Gln)
c.400G>C (p.Glu134Gln)
c.403G>C (p.Glu135Gln)
n.65G>C
c.487G>C (p.Glu163Gln)
n.274G>C
c.499G>C (p.Glu167Gln)
1g.114684346C>TCA341752833AMPD1c.388G>A (p.Glu130Lys)
c.400G>A (p.Glu134Lys)
c.403G>A (p.Glu135Lys)
n.65G>A
c.487G>A (p.Glu163Lys)
n.274G>A
c.499G>A (p.Glu167Lys)
1g.114684347A>CCA341752835AMPD1c.387T>G (p.Phe129Leu)
c.399T>G (p.Phe133Leu)
c.402T>G (p.Phe134Leu)
n.64T>G
c.486T>G (p.Phe162Leu)
n.273T>G
c.498T>G (p.Phe166Leu)
1g.114684347A>GCA419883546AMPD1c.387T>C (p.Phe129=)
c.399T>C (p.Phe133=)
c.402T>C (p.Phe134=)
n.64T>C
c.486T>C (p.Phe162=)
n.273T>C
c.498T>C (p.Phe166=)
 gnomAD v4
1g.114684347A>TCA341752837AMPD1c.387T>A (p.Phe129Leu)
c.399T>A (p.Phe133Leu)
c.402T>A (p.Phe134Leu)
n.64T>A
c.486T>A (p.Phe162Leu)
n.273T>A
c.498T>A (p.Phe166Leu)
1g.114684348A>CCA341752839AMPD1c.386T>G (p.Phe129Cys)
c.398T>G (p.Phe133Cys)
c.401T>G (p.Phe134Cys)
n.63T>G
c.485T>G (p.Phe162Cys)
n.272T>G
c.497T>G (p.Phe166Cys)
1g.114684348A>GCA341752842AMPD1c.386T>C (p.Phe129Ser)
c.398T>C (p.Phe133Ser)
c.401T>C (p.Phe134Ser)
n.63T>C
c.485T>C (p.Phe162Ser)
n.272T>C
c.497T>C (p.Phe166Ser)
1g.114684348A>TCA341752840AMPD1c.386T>A (p.Phe129Tyr)
c.398T>A (p.Phe133Tyr)
c.401T>A (p.Phe134Tyr)
n.63T>A
c.485T>A (p.Phe162Tyr)
n.272T>A
c.497T>A (p.Phe166Tyr)
1g.114684349A>CCA341752844AMPD1c.385T>G (p.Phe129Val)
c.397T>G (p.Phe133Val)
c.400T>G (p.Phe134Val)
n.62T>G
c.484T>G (p.Phe162Val)
n.271T>G
c.496T>G (p.Phe166Val)
1g.114684349A>GCA341752847AMPD1c.385T>C (p.Phe129Leu)
c.397T>C (p.Phe133Leu)
c.400T>C (p.Phe134Leu)
n.62T>C
c.484T>C (p.Phe162Leu)
n.271T>C
c.496T>C (p.Phe166Leu)
1g.114684349A>TCA341752845AMPD1c.385T>A (p.Phe129Ile)
c.397T>A (p.Phe133Ile)
c.400T>A (p.Phe134Ile)
n.62T>A
c.484T>A (p.Phe162Ile)
n.271T>A
c.496T>A (p.Phe166Ile)
1g.114684350A>CCA341752849AMPD1c.384T>G (p.Asp128Glu)
c.396T>G (p.Asp132Glu)
c.399T>G (p.Asp133Glu)
n.61T>G
c.483T>G (p.Asp161Glu)
n.270T>G
c.495T>G (p.Asp165Glu)
1g.114684350A>GCA419883547AMPD1c.384T>C (p.Asp128=)
c.396T>C (p.Asp132=)
c.399T>C (p.Asp133=)
n.61T>C
c.483T>C (p.Asp161=)
n.270T>C
c.495T>C (p.Asp165=)
1g.114684350A>TCA341752850AMPD1c.384T>A (p.Asp128Glu)
c.396T>A (p.Asp132Glu)
c.399T>A (p.Asp133Glu)
n.61T>A
c.483T>A (p.Asp161Glu)
n.270T>A
c.495T>A (p.Asp165Glu)
1g.114684351T>ACA341752852AMPD1c.383A>T (p.Asp128Val)
c.395A>T (p.Asp132Val)
c.398A>T (p.Asp133Val)
n.60A>T
c.482A>T (p.Asp161Val)
n.269A>T
c.494A>T (p.Asp165Val)
1g.114684351T>CCA341752853AMPD1c.383A>G (p.Asp128Gly)
c.395A>G (p.Asp132Gly)
c.398A>G (p.Asp133Gly)
n.60A>G
c.482A>G (p.Asp161Gly)
n.269A>G
c.494A>G (p.Asp165Gly)
1g.114684351T>GCA341752855AMPD1c.383A>C (p.Asp128Ala)
c.395A>C (p.Asp132Ala)
c.398A>C (p.Asp133Ala)
n.60A>C
c.482A>C (p.Asp161Ala)
n.269A>C
c.494A>C (p.Asp165Ala)
1g.114684352C>ACA341752857AMPD1c.382G>T (p.Asp128Tyr)
c.394G>T (p.Asp132Tyr)
c.397G>T (p.Asp133Tyr)
n.59G>T
c.481G>T (p.Asp161Tyr)
n.268G>T
c.493G>T (p.Asp165Tyr)
1g.114684352C=CA1142284895AMPD1c.382G= (p.Asp128=)
c.394G= (p.Asp132=)
c.397G= (p.Asp133=)
n.59G=
c.481G= (p.Asp161=)
n.268G=
c.493G= (p.Asp165=)
1g.114684352C>GCA341752859AMPD1c.382G>C (p.Asp128His)
c.394G>C (p.Asp132His)
c.397G>C (p.Asp133His)
n.59G>C
c.481G>C (p.Asp161His)
n.268G>C
c.493G>C (p.Asp165His)
1g.114684352C>TCA1020437AMPD1c.382G>A (p.Asp128Asn)
c.394G>A (p.Asp132Asn)
c.397G>A (p.Asp133Asn)
n.59G>A
c.481G>A (p.Asp161Asn)
n.268G>A
c.493G>A (p.Asp165Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114684353T>ACA341752861AMPD1c.381A>T (p.Glu127Asp)
c.393A>T (p.Glu131Asp)
c.396A>T (p.Glu132Asp)
n.58A>T
c.480A>T (p.Glu160Asp)
n.267A>T
c.492A>T (p.Glu164Asp)
1g.114684353T>CCA419883548AMPD1c.381A>G (p.Glu127=)
c.393A>G (p.Glu131=)
c.396A>G (p.Glu132=)
n.58A>G
c.480A>G (p.Glu160=)
n.267A>G
c.492A>G (p.Glu164=)
 dbSNP gnomAD v3 gnomAD v4
1g.114684353T>GCA341752862AMPD1c.381A>C (p.Glu127Asp)
c.393A>C (p.Glu131Asp)
c.396A>C (p.Glu132Asp)
n.58A>C
c.480A>C (p.Glu160Asp)
n.267A>C
c.492A>C (p.Glu164Asp)
 COSMIC COSMIC
1g.114684353T=CA1190281962AMPD1c.381A= (p.Glu127=)
c.393A= (p.Glu131=)
c.396A= (p.Glu132=)
n.58A=
c.480A= (p.Glu160=)
n.267A=
c.492A= (p.Glu164=)
1g.114684354T>ACA341752866AMPD1c.380A>T (p.Glu127Val)
c.392A>T (p.Glu131Val)
c.395A>T (p.Glu132Val)
n.57A>T
c.479A>T (p.Glu160Val)
n.266A>T
c.491A>T (p.Glu164Val)
1g.114684354T>CCA341752865AMPD1c.380A>G (p.Glu127Gly)
c.392A>G (p.Glu131Gly)
c.395A>G (p.Glu132Gly)
n.57A>G
c.479A>G (p.Glu160Gly)
n.266A>G
c.491A>G (p.Glu164Gly)
 COSMIC COSMIC
1g.114684354T>GCA341752864AMPD1c.380A>C (p.Glu127Ala)
c.392A>C (p.Glu131Ala)
c.395A>C (p.Glu132Ala)
n.57A>C
c.479A>C (p.Glu160Ala)
n.266A>C
c.491A>C (p.Glu164Ala)
1g.114684355C>ACA341752868AMPD1c.379G>T (p.Glu127Ter)
c.391G>T (p.Glu131Ter)
c.394G>T (p.Glu132Ter)
n.56G>T
c.478G>T (p.Glu160Ter)
n.265G>T
c.490G>T (p.Glu164Ter)
 gnomAD v4
1g.114684355C>GCA341752870AMPD1c.379G>C (p.Glu127Gln)
c.391G>C (p.Glu131Gln)
c.394G>C (p.Glu132Gln)
n.56G>C
c.478G>C (p.Glu160Gln)
n.265G>C
c.490G>C (p.Glu164Gln)
1g.114684355C>TCA341752871AMPD1c.379G>A (p.Glu127Lys)
c.391G>A (p.Glu131Lys)
c.394G>A (p.Glu132Lys)
n.56G>A
c.478G>A (p.Glu160Lys)
n.265G>A
c.490G>A (p.Glu164Lys)

Number of alleles fetched