Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.143575443A>CCA372450819NAPRTc.1271T>G (p.Phe424Cys)
c.249T>G
n.815T>G
c.1055T>G
c.1190T>G (p.Phe397Cys)
c.587T>G (p.Phe196Cys)
c.1490T>G (p.Phe497Cys)
c.908T>G (p.Phe303Cys)
c.506T>G (p.Phe169Cys)
8g.143575443A>GCA372450822NAPRTc.1271T>C (p.Phe424Ser)
c.249T>C
n.815T>C
c.1055T>C
c.1190T>C (p.Phe397Ser)
c.587T>C (p.Phe196Ser)
c.1490T>C (p.Phe497Ser)
c.908T>C (p.Phe303Ser)
c.506T>C (p.Phe169Ser)
8g.143575443A>TCA372450826NAPRTc.1271T>A (p.Phe424Tyr)
c.249T>A
n.815T>A
c.1055T>A
c.1190T>A (p.Phe397Tyr)
c.587T>A (p.Phe196Tyr)
c.1490T>A (p.Phe497Tyr)
c.908T>A (p.Phe303Tyr)
c.506T>A (p.Phe169Tyr)
8g.143575444A=CA1825861459NAPRTc.1270T= (p.Phe424=)
c.248T=
n.814T=
c.1054T=
c.1189T= (p.Phe397=)
c.586T= (p.Phe196=)
c.1489T= (p.Phe497=)
c.907T= (p.Phe303=)
c.505T= (p.Phe169=)
8g.143575444A>CCA372450839NAPRTc.1270T>G (p.Phe424Val)
c.248T>G
n.814T>G
c.1054T>G
c.1189T>G (p.Phe397Val)
c.586T>G (p.Phe196Val)
c.1489T>G (p.Phe497Val)
c.907T>G (p.Phe303Val)
c.505T>G (p.Phe169Val)
8g.143575444A>GCA4912711NAPRTc.1270T>C (p.Phe424Leu)
c.248T>C
n.814T>C
c.1054T>C
c.1189T>C (p.Phe397Leu)
c.586T>C (p.Phe196Leu)
c.1489T>C (p.Phe497Leu)
c.907T>C (p.Phe303Leu)
c.505T>C (p.Phe169Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143575444A>TCA372450829NAPRTc.1270T>A (p.Phe424Ile)
c.248T>A
n.814T>A
c.1054T>A
c.1189T>A (p.Phe397Ile)
c.586T>A (p.Phe196Ile)
c.1489T>A (p.Phe497Ile)
c.907T>A (p.Phe303Ile)
c.505T>A (p.Phe169Ile)
8g.143575445A=CA1825861460NAPRTc.1269T= (p.Ala423=)
c.247T=
n.813T=
c.1053T=
c.1188T= (p.Ala396=)
c.585T= (p.Ala195=)
c.1488T= (p.Ala496=)
c.906T= (p.Ala302=)
c.504T= (p.Ala168=)
8g.143575445A>CCA463512265NAPRTc.1269T>G (p.Ala423=)
c.247T>G
n.813T>G
c.1053T>G
c.1188T>G (p.Ala396=)
c.585T>G (p.Ala195=)
c.1488T>G (p.Ala496=)
c.906T>G (p.Ala302=)
c.504T>G (p.Ala168=)
8g.143575445A>GCA463512266NAPRTc.1269T>C (p.Ala423=)
c.247T>C
n.813T>C
c.1053T>C
c.1188T>C (p.Ala396=)
c.585T>C (p.Ala195=)
c.1488T>C (p.Ala496=)
c.906T>C (p.Ala302=)
c.504T>C (p.Ala168=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143575445A>TCA463512268NAPRTc.1269T>A (p.Ala423=)
c.247T>A
n.813T>A
c.1053T>A
c.1188T>A (p.Ala396=)
c.585T>A (p.Ala195=)
c.1488T>A (p.Ala496=)
c.906T>A (p.Ala302=)
c.504T>A (p.Ala168=)
8g.143575446G>ACA4912713NAPRTc.1268C>T (p.Ala423Val)
c.246C>T
n.812C>T
c.1052C>T
c.1187C>T (p.Ala396Val)
c.584C>T (p.Ala195Val)
c.1487C>T (p.Ala496Val)
c.905C>T (p.Ala302Val)
c.503C>T (p.Ala168Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143575446G>CCA4912712NAPRTc.1268C>G (p.Ala423Gly)
c.246C>G
n.812C>G
c.1052C>G
c.1187C>G (p.Ala396Gly)
c.584C>G (p.Ala195Gly)
c.1487C>G (p.Ala496Gly)
c.905C>G (p.Ala302Gly)
c.503C>G (p.Ala168Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143575446G=CA1825861461NAPRTc.1268C= (p.Ala423=)
c.246C=
n.812C=
c.1052C=
c.1187C= (p.Ala396=)
c.584C= (p.Ala195=)
c.1487C= (p.Ala496=)
c.905C= (p.Ala302=)
c.503C= (p.Ala168=)
8g.143575446G>TCA372450851NAPRTc.1268C>A (p.Ala423Asp)
c.246C>A
n.812C>A
c.1052C>A
c.1187C>A (p.Ala396Asp)
c.584C>A (p.Ala195Asp)
c.1487C>A (p.Ala496Asp)
c.905C>A (p.Ala302Asp)
c.503C>A (p.Ala168Asp)
8g.143575447C>ACA372450852NAPRTc.1267G>T (p.Ala423Ser)
c.245G>T
n.811G>T
c.1051G>T
c.1186G>T (p.Ala396Ser)
c.583G>T (p.Ala195Ser)
c.1486G>T (p.Ala496Ser)
c.904G>T (p.Ala302Ser)
c.502G>T (p.Ala168Ser)
8g.143575447C>GCA372450856NAPRTc.1267G>C (p.Ala423Pro)
c.245G>C
n.811G>C
c.1051G>C
c.1186G>C (p.Ala396Pro)
c.583G>C (p.Ala195Pro)
c.1486G>C (p.Ala496Pro)
c.904G>C (p.Ala302Pro)
c.502G>C (p.Ala168Pro)
8g.143575447C>TCA372450859NAPRTc.1267G>A (p.Ala423Thr)
c.245G>A
n.811G>A
c.1051G>A
c.1186G>A (p.Ala396Thr)
c.583G>A (p.Ala195Thr)
c.1486G>A (p.Ala496Thr)
c.904G>A (p.Ala302Thr)
c.502G>A (p.Ala168Thr)
 gnomAD v4
8g.143575448A=CA1825861462NAPRTc.1266T= (p.Ala422=)
c.244T=
n.810T=
c.1050T=
c.1185T= (p.Ala395=)
c.582T= (p.Ala194=)
c.1485T= (p.Ala495=)
c.903T= (p.Ala301=)
c.501T= (p.Ala167=)
8g.143575448A>CCA463512275NAPRTc.1266T>G (p.Ala422=)
c.244T>G
n.810T>G
c.1050T>G
c.1185T>G (p.Ala395=)
c.582T>G (p.Ala194=)
c.1485T>G (p.Ala495=)
c.903T>G (p.Ala301=)
c.501T>G (p.Ala167=)
 gnomAD v4
8g.143575448A>GCA463512277NAPRTc.1266T>C (p.Ala422=)
c.244T>C
n.810T>C
c.1050T>C
c.1185T>C (p.Ala395=)
c.582T>C (p.Ala194=)
c.1485T>C (p.Ala495=)
c.903T>C (p.Ala301=)
c.501T>C (p.Ala167=)
 dbSNP
8g.143575448A>TCA463512279NAPRTc.1266T>A (p.Ala422=)
c.244T>A
n.810T>A
c.1050T>A
c.1185T>A (p.Ala395=)
c.582T>A (p.Ala194=)
c.1485T>A (p.Ala495=)
c.903T>A (p.Ala301=)
c.501T>A (p.Ala167=)
8g.143575449G>ACA372450863NAPRTc.1265C>T (p.Ala422Val)
c.243C>T
n.809C>T
c.1049C>T
c.1184C>T (p.Ala395Val)
c.581C>T (p.Ala194Val)
c.1484C>T (p.Ala495Val)
c.902C>T (p.Ala301Val)
c.500C>T (p.Ala167Val)
8g.143575449G>CCA372450869NAPRTc.1265C>G (p.Ala422Gly)
c.243C>G
n.809C>G
c.1049C>G
c.1184C>G (p.Ala395Gly)
c.581C>G (p.Ala194Gly)
c.1484C>G (p.Ala495Gly)
c.902C>G (p.Ala301Gly)
c.500C>G (p.Ala167Gly)
8g.143575449G>TCA372450875NAPRTc.1265C>A (p.Ala422Asp)
c.243C>A
n.809C>A
c.1049C>A
c.1184C>A (p.Ala395Asp)
c.581C>A (p.Ala194Asp)
c.1484C>A (p.Ala495Asp)
c.902C>A (p.Ala301Asp)
c.500C>A (p.Ala167Asp)
8g.143575450C>ACA187547807NAPRTc.1264G>T (p.Ala422Ser)
c.242G>T
n.808G>T
c.1048G>T
c.1183G>T (p.Ala395Ser)
c.580G>T (p.Ala194Ser)
c.1483G>T (p.Ala495Ser)
c.901G>T (p.Ala301Ser)
c.499G>T (p.Ala167Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.143575450C=CA1825861463NAPRTc.1264G= (p.Ala422=)
c.242G=
n.808G=
c.1048G=
c.1183G= (p.Ala395=)
c.580G= (p.Ala194=)
c.1483G= (p.Ala495=)
c.901G= (p.Ala301=)
c.499G= (p.Ala167=)
8g.143575450C>GCA372450882NAPRTc.1264G>C (p.Ala422Pro)
c.242G>C
n.808G>C
c.1048G>C
c.1183G>C (p.Ala395Pro)
c.580G>C (p.Ala194Pro)
c.1483G>C (p.Ala495Pro)
c.901G>C (p.Ala301Pro)
c.499G>C (p.Ala167Pro)
8g.143575450C>TCA4912714NAPRTc.1264G>A (p.Ala422Thr)
c.242G>A
n.808G>A
c.1048G>A
c.1183G>A (p.Ala395Thr)
c.580G>A (p.Ala194Thr)
c.1483G>A (p.Ala495Thr)
c.901G>A (p.Ala301Thr)
c.499G>A (p.Ala167Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.143575451C>ACA372450890NAPRTc.1263G>T (p.Lys421Asn)
c.241G>T
n.807G>T
c.1047G>T
c.1182G>T (p.Lys394Asn)
c.579G>T (p.Lys193Asn)
c.1482G>T (p.Lys494Asn)
c.900G>T (p.Lys300Asn)
c.498G>T (p.Lys166Asn)
8g.143575451C>GCA372450893NAPRTc.1263G>C (p.Lys421Asn)
c.241G>C
n.807G>C
c.1047G>C
c.1182G>C (p.Lys394Asn)
c.579G>C (p.Lys193Asn)
c.1482G>C (p.Lys494Asn)
c.900G>C (p.Lys300Asn)
c.498G>C (p.Lys166Asn)
8g.143575451C>TCA463512281NAPRTc.1263G>A (p.Lys421=)
c.241G>A
n.807G>A
c.1047G>A
c.1182G>A (p.Lys394=)
c.579G>A (p.Lys193=)
c.1482G>A (p.Lys494=)
c.900G>A (p.Lys300=)
c.498G>A (p.Lys166=)
 gnomAD v4
8g.143575452T>ACA372450894NAPRTc.1262A>T (p.Lys421Met)
c.240A>T
n.806A>T
c.1046A>T
c.1181A>T (p.Lys394Met)
c.578A>T (p.Lys193Met)
c.1481A>T (p.Lys494Met)
c.899A>T (p.Lys300Met)
c.497A>T (p.Lys166Met)
8g.143575452T>CCA372450896NAPRTc.1262A>G (p.Lys421Arg)
c.240A>G
n.806A>G
c.1046A>G
c.1181A>G (p.Lys394Arg)
c.578A>G (p.Lys193Arg)
c.1481A>G (p.Lys494Arg)
c.899A>G (p.Lys300Arg)
c.497A>G (p.Lys166Arg)
 COSMIC COSMIC COSMIC
8g.143575452T>GCA372450895NAPRTc.1262A>C (p.Lys421Thr)
c.240A>C
n.806A>C
c.1046A>C
c.1181A>C (p.Lys394Thr)
c.578A>C (p.Lys193Thr)
c.1481A>C (p.Lys494Thr)
c.899A>C (p.Lys300Thr)
c.497A>C (p.Lys166Thr)
8g.143575453T>ACA372450901NAPRTc.1261A>T (p.Lys421Ter)
c.239A>T
n.805A>T
c.1045A>T
c.1180A>T (p.Lys394Ter)
c.577A>T (p.Lys193Ter)
c.1480A>T (p.Lys494Ter)
c.898A>T (p.Lys300Ter)
c.496A>T (p.Lys166Ter)
8g.143575453T>CCA372450906NAPRTc.1261A>G (p.Lys421Glu)
c.239A>G
n.805A>G
c.1045A>G
c.1180A>G (p.Lys394Glu)
c.577A>G (p.Lys193Glu)
c.1480A>G (p.Lys494Glu)
c.898A>G (p.Lys300Glu)
c.496A>G (p.Lys166Glu)
 dbSNP gnomAD v4
8g.143575453T>GCA372450902NAPRTc.1261A>C (p.Lys421Gln)
c.239A>C
n.805A>C
c.1045A>C
c.1180A>C (p.Lys394Gln)
c.577A>C (p.Lys193Gln)
c.1480A>C (p.Lys494Gln)
c.898A>C (p.Lys300Gln)
c.496A>C (p.Lys166Gln)
8g.143575454G>ACA463512292NAPRTc.1260C>T (p.Ser420=)
c.238C>T
n.804C>T
c.1044C>T
c.1179C>T (p.Ser393=)
c.576C>T (p.Ser192=)
c.1479C>T (p.Ser493=)
c.897C>T (p.Ser299=)
c.495C>T (p.Ser165=)
8g.143575454G>CCA372450907NAPRTc.1260C>G (p.Ser420Arg)
c.238C>G
n.804C>G
c.1044C>G
c.1179C>G (p.Ser393Arg)
c.576C>G (p.Ser192Arg)
c.1479C>G (p.Ser493Arg)
c.897C>G (p.Ser299Arg)
c.495C>G (p.Ser165Arg)
8g.143575454G>TCA372450910NAPRTc.1260C>A (p.Ser420Arg)
c.238C>A
n.804C>A
c.1044C>A
c.1179C>A (p.Ser393Arg)
c.576C>A (p.Ser192Arg)
c.1479C>A (p.Ser493Arg)
c.897C>A (p.Ser299Arg)
c.495C>A (p.Ser165Arg)
8g.143575455C>ACA372450915NAPRTc.1259G>T (p.Ser420Ile)
c.237G>T
n.803G>T
c.1043G>T
c.1178G>T (p.Ser393Ile)
c.575G>T (p.Ser192Ile)
c.1478G>T (p.Ser493Ile)
c.896G>T (p.Ser299Ile)
c.494G>T (p.Ser165Ile)
8g.143575455C=CA1825861464NAPRTc.1259G= (p.Ser420=)
c.237G=
n.803G=
c.1043G=
c.1178G= (p.Ser393=)
c.575G= (p.Ser192=)
c.1478G= (p.Ser493=)
c.896G= (p.Ser299=)
c.494G= (p.Ser165=)
8g.143575455C>GCA372450923NAPRTc.1259G>C (p.Ser420Thr)
c.237G>C
n.803G>C
c.1043G>C
c.1178G>C (p.Ser393Thr)
c.575G>C (p.Ser192Thr)
c.1478G>C (p.Ser493Thr)
c.896G>C (p.Ser299Thr)
c.494G>C (p.Ser165Thr)
8g.143575455C>TCA372450928NAPRTc.1259G>A (p.Ser420Asn)
c.237G>A
n.803G>A
c.1043G>A
c.1178G>A (p.Ser393Asn)
c.575G>A (p.Ser192Asn)
c.1478G>A (p.Ser493Asn)
c.896G>A (p.Ser299Asn)
c.494G>A (p.Ser165Asn)
 dbSNP gnomAD v3 gnomAD v4
8g.143575456T>ACA372450931NAPRTc.1258A>T (p.Ser420Cys)
c.236A>T
n.802A>T
c.1042A>T
c.1177A>T (p.Ser393Cys)
c.574A>T (p.Ser192Cys)
c.1477A>T (p.Ser493Cys)
c.895A>T (p.Ser299Cys)
c.493A>T (p.Ser165Cys)
8g.143575456T>CCA372450933NAPRTc.1258A>G (p.Ser420Gly)
c.236A>G
n.802A>G
c.1042A>G
c.1177A>G (p.Ser393Gly)
c.574A>G (p.Ser192Gly)
c.1477A>G (p.Ser493Gly)
c.895A>G (p.Ser299Gly)
c.493A>G (p.Ser165Gly)
 gnomAD v4
8g.143575456T>GCA372450935NAPRTc.1258A>C (p.Ser420Arg)
c.236A>C
n.802A>C
c.1042A>C
c.1177A>C (p.Ser393Arg)
c.574A>C (p.Ser192Arg)
c.1477A>C (p.Ser493Arg)
c.895A>C (p.Ser299Arg)
c.493A>C (p.Ser165Arg)
8g.143575457C>ACA463512307NAPRTc.1257G>T (p.Gly419=)
c.235G>T
n.801G>T
c.1041G>T
c.1176G>T (p.Gly392=)
c.573G>T (p.Gly191=)
c.1476G>T (p.Gly492=)
c.894G>T (p.Gly298=)
c.492G>T (p.Gly164=)
 gnomAD v4
8g.143575457C>GCA463512304NAPRTc.1257G>C (p.Gly419=)
c.235G>C
n.801G>C
c.1041G>C
c.1176G>C (p.Gly392=)
c.573G>C (p.Gly191=)
c.1476G>C (p.Gly492=)
c.894G>C (p.Gly298=)
c.492G>C (p.Gly164=)

Number of alleles fetched