Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.102840435del | CA16020989 | PAH | c.1282del (p.Gln428SerfsTer24) c.1267del (p.Gln423SerfsTer24) n.944del c.386del n.797del c.1225del (p.Gln409SerfsTer24) | ClinVar dbSNP |
12 | g.102840435G>A | CA386492981 | PAH | c.1280C>T (p.Thr427Ile) c.1265C>T (p.Thr422Ile) n.942C>T c.384C>T n.795C>T c.1223C>T (p.Thr408Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840435G>C | CA386492982 | PAH | c.1280C>G (p.Thr427Ser) c.1265C>G (p.Thr422Ser) n.942C>G c.384C>G n.795C>G c.1223C>G (p.Thr408Ser) | |
12 | g.102840435G= | CA2059441574 | PAH | c.1280C= (p.Thr427=) c.1265C= (p.Thr422=) n.942C= c.384C= n.795C= c.1223C= (p.Thr408=) | |
12 | g.102840435G>T | CA386492983 | PAH | c.1280C>A (p.Thr427Asn) c.1265C>A (p.Thr422Asn) n.942C>A c.384C>A n.795C>A c.1223C>A (p.Thr408Asn) | |
12 | g.102840436T>A | CA386492985 | PAH | c.1279A>T (p.Thr427Ser) c.1264A>T (p.Thr422Ser) n.941A>T c.383A>T n.794A>T c.1222A>T (p.Thr408Ser) | |
12 | g.102840436T>C | CA386492986 | PAH | c.1279A>G (p.Thr427Ala) c.1264A>G (p.Thr422Ala) n.941A>G c.383A>G n.794A>G c.1222A>G (p.Thr408Ala) | gnomAD v4 |
12 | g.102840436T>G | CA386492984 | PAH | c.1279A>C (p.Thr427Pro) c.1264A>C (p.Thr422Pro) n.941A>C c.383A>C n.794A>C c.1222A>C (p.Thr408Pro) | |
12 | g.102840437A= | CA2059441585 | PAH | c.1278T= (p.Asn426=) c.1263T= (p.Asn421=) n.940T= c.382T= n.793T= c.1221T= (p.Asn407=) | |
12 | g.102840437A>C | CA386492987 | PAH | c.1278T>G (p.Asn426Lys) c.1263T>G (p.Asn421Lys) n.940T>G c.382T>G n.793T>G c.1221T>G (p.Asn407Lys) | |
12 | g.102840437A>G | CA145978 | PAH | c.1278T>C (p.Asn426=) c.1263T>C (p.Asn421=) n.940T>C c.382T>C n.793T>C c.1221T>C (p.Asn407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840437A>T | CA386492988 | PAH | c.1278T>A (p.Asn426Lys) c.1263T>A (p.Asn421Lys) n.940T>A c.382T>A n.793T>A c.1221T>A (p.Asn407Lys) | |
12 | g.102840438T>A | CA386492989 | PAH | c.1277A>T (p.Asn426Ile) c.1262A>T (p.Asn421Ile) n.939A>T c.381A>T n.792A>T c.1220A>T (p.Asn407Ile) | |
12 | g.102840438T>C | CA386492990 | PAH | c.1277A>G (p.Asn426Ser) c.1262A>G (p.Asn421Ser) n.939A>G c.381A>G n.792A>G c.1220A>G (p.Asn407Ser) | gnomAD v4 |
12 | g.102840438T>G | CA386492991 | PAH | c.1277A>C (p.Asn426Thr) c.1262A>C (p.Asn421Thr) n.939A>C c.381A>C n.792A>C c.1220A>C (p.Asn407Thr) | |
12 | g.102840439T>A | CA386492994 | PAH | c.1276A>T (p.Asn426Tyr) c.1261A>T (p.Asn421Tyr) n.938A>T c.380A>T n.791A>T c.1219A>T (p.Asn407Tyr) | |
12 | g.102840439T>C | CA386492992 | PAH | c.1276A>G (p.Asn426Asp) c.1261A>G (p.Asn421Asp) n.938A>G c.380A>G n.791A>G c.1219A>G (p.Asn407Asp) | |
12 | g.102840439T>G | CA386492993 | PAH | c.1276A>C (p.Asn426His) c.1261A>C (p.Asn421His) n.938A>C c.380A>C n.791A>C c.1219A>C (p.Asn407His) | |
12 | g.102840440G>A | CA481375348 | PAH | c.1275C>T (p.Asp425=) c.1260C>T (p.Asp420=) n.937C>T c.379C>T n.790C>T c.1218C>T (p.Asp406=) | |
12 | g.102840440G>C | CA386492995 | PAH | c.1275C>G (p.Asp425Glu) c.1260C>G (p.Asp420Glu) n.937C>G c.379C>G n.790C>G c.1218C>G (p.Asp406Glu) | gnomAD v4 |
12 | g.102840440G>T | CA386492996 | PAH | c.1275C>A (p.Asp425Glu) c.1260C>A (p.Asp420Glu) n.937C>A c.379C>A n.790C>A c.1218C>A (p.Asp406Glu) | COSMIC |
12 | g.102840441T>A | CA386492997 | PAH | c.1274A>T (p.Asp425Val) c.1259A>T (p.Asp420Val) n.936A>T c.378A>T n.789A>T c.1217A>T (p.Asp406Val) | |
12 | g.102840441T>C | CA386492998 | PAH | c.1274A>G (p.Asp425Gly) c.1259A>G (p.Asp420Gly) n.936A>G c.378A>G n.789A>G c.1217A>G (p.Asp406Gly) | |
12 | g.102840441T>G | CA386492999 | PAH | c.1274A>C (p.Asp425Ala) c.1259A>C (p.Asp420Ala) n.936A>C c.378A>C n.789A>C c.1217A>C (p.Asp406Ala) | |
12 | g.102840442C>A | CA386493000 | PAH | c.1273G>T (p.Asp425Tyr) c.1258G>T (p.Asp420Tyr) n.935G>T c.377G>T n.788G>T c.1216G>T (p.Asp406Tyr) | |
12 | g.102840442C= | CA2059441594 | PAH | c.1273G= (p.Asp425=) c.1258G= (p.Asp420=) n.935G= c.377G= n.788G= c.1216G= (p.Asp406=) | |
12 | g.102840442C>G | CA386493002 | PAH | c.1273G>C (p.Asp425His) c.1258G>C (p.Asp420His) n.935G>C c.377G>C n.788G>C c.1216G>C (p.Asp406His) | |
12 | g.102840442C>T | CA386493001 | PAH | c.1273G>A (p.Asp425Asn) c.1258G>A (p.Asp420Asn) n.935G>A c.377G>A n.788G>A c.1216G>A (p.Asp406Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840443C>A | CA386493003 | PAH | c.1272G>T (p.Leu424Phe) c.1257G>T (p.Leu419Phe) n.934G>T c.376G>T n.787G>T c.1215G>T (p.Leu405Phe) | |
12 | g.102840443C>G | CA386493004 | PAH | c.1272G>C (p.Leu424Phe) c.1257G>C (p.Leu419Phe) n.934G>C c.376G>C n.787G>C c.1215G>C (p.Leu405Phe) | |
12 | g.102840443C>T | CA481375349 | PAH | c.1272G>A (p.Leu424=) c.1257G>A (p.Leu419=) n.934G>A c.376G>A n.787G>A c.1215G>A (p.Leu405=) | |
12 | g.102840444A= | CA2059441609 | PAH | c.1271T= (p.Leu424=) c.1256T= (p.Leu419=) n.933T= c.375T= n.786T= c.1214T= (p.Leu405=) | |
12 | g.102840444A>C | CA386493005 | PAH | c.1271T>G (p.Leu424Trp) c.1256T>G (p.Leu419Trp) n.933T>G c.375T>G n.786T>G c.1214T>G (p.Leu405Trp) | |
12 | g.102840444A>G | CA229424 | PAH | c.1271T>C (p.Leu424Ser) c.1256T>C (p.Leu419Ser) n.933T>C c.375T>C n.786T>C c.1214T>C (p.Leu405Ser) | ClinVar dbSNP |
12 | g.102840444A>T | CA16020988 | PAH | c.1271T>A (p.Leu424Ter) c.1256T>A (p.Leu419Ter) n.933T>A c.375T>A n.786T>A c.1214T>A (p.Leu405Ter) | ClinVar dbSNP |
12 | g.102840445A= | CA2059441621 | PAH | c.1270T= (p.Leu424=) c.1255T= (p.Leu419=) n.932T= c.374T= n.785T= c.1213T= (p.Leu405=) | |
12 | g.102840445A>C | CA386493006 | PAH | c.1270T>G (p.Leu424Val) c.1255T>G (p.Leu419Val) n.932T>G c.374T>G n.785T>G c.1213T>G (p.Leu405Val) | dbSNP gnomAD v4 |
12 | g.102840445A>G | CA242743432 | PAH | c.1270T>C (p.Leu424=) c.1255T>C (p.Leu419=) n.932T>C c.374T>C n.785T>C c.1213T>C (p.Leu405=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840445A>T | CA386493007 | PAH | c.1270T>A (p.Leu424Met) c.1255T>A (p.Leu419Met) n.932T>A c.374T>A n.785T>A c.1213T>A (p.Leu405Met) | |
12 | g.102840446del | CA16020987 | PAH | c.1269del (p.Leu424TrpfsTer28) c.1254del (p.Leu419TrpfsTer28) n.931del c.373del n.784del c.1212del (p.Leu405TrpfsTer28) | |
12 | g.102840446G>A | CA481375350 | PAH | c.1269C>T (p.Val423=) c.1254C>T (p.Val418=) n.931C>T c.373C>T n.784C>T c.1212C>T (p.Val404=) | |
12 | g.102840446G>C | CA481375351 | PAH | c.1269C>G (p.Val423=) c.1254C>G (p.Val418=) n.931C>G c.373C>G n.784C>G c.1212C>G (p.Val404=) | |
12 | g.102840446G>T | CA481375352 | PAH | c.1269C>A (p.Val423=) c.1254C>A (p.Val418=) n.931C>A c.373C>A n.784C>A c.1212C>A (p.Val404=) | |
12 | g.102840447A>C | CA386493008 | PAH | c.1268T>G (p.Val423Gly) c.1253T>G (p.Val418Gly) n.930T>G c.372T>G n.783T>G c.1211T>G (p.Val404Gly) | |
12 | g.102840447A>G | CA386493009 | PAH | c.1268T>C (p.Val423Ala) c.1253T>C (p.Val418Ala) n.930T>C c.372T>C n.783T>C c.1211T>C (p.Val404Ala) | COSMIC |
12 | g.102840447A>T | CA386493010 | PAH | c.1268T>A (p.Val423Asp) c.1253T>A (p.Val418Asp) n.930T>A c.372T>A n.783T>A c.1211T>A (p.Val404Asp) | |
12 | g.102840448C>A | CA386493013 | PAH | c.1267G>T (p.Val423Phe) c.1252G>T (p.Val418Phe) n.929G>T c.371G>T n.782G>T c.1210G>T (p.Val404Phe) | |
12 | g.102840448C= | CA2059441631 | PAH | c.1267G= (p.Val423=) c.1252G= (p.Val418=) n.929G= c.371G= n.782G= c.1210G= (p.Val404=) | |
12 | g.102840448C>G | CA386493012 | PAH | c.1267G>C (p.Val423Leu) c.1252G>C (p.Val418Leu) n.929G>C c.371G>C n.782G>C c.1210G>C (p.Val404Leu) | |
12 | g.102840448C>T | CA386493011 | PAH | c.1267G>A (p.Val423Ile) c.1252G>A (p.Val418Ile) n.929G>A c.371G>A n.782G>A c.1210G>A (p.Val404Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840449C>A | CA386493014 | PAH | c.1266G>T (p.Glu422Asp) c.1251G>T (p.Glu417Asp) n.928G>T c.370G>T n.781G>T c.1209G>T (p.Glu403Asp) | |
12 | g.102840449C>G | CA386493015 | PAH | c.1266G>C (p.Glu422Asp) c.1251G>C (p.Glu417Asp) n.928G>C c.370G>C n.781G>C c.1209G>C (p.Glu403Asp) | |
12 | g.102840449C>T | CA481375355 | PAH | c.1266G>A (p.Glu422=) c.1251G>A (p.Glu417=) n.928G>A c.370G>A n.781G>A c.1209G>A (p.Glu403=) | ClinVar |
12 | g.102840450T>A | CA386493016 | PAH | c.1265A>T (p.Glu422Val) c.1250A>T (p.Glu417Val) n.927A>T c.369A>T n.780A>T c.1208A>T (p.Glu403Val) | |
12 | g.102840450T>C | CA386493017 | PAH | c.1265A>G (p.Glu422Gly) c.1250A>G (p.Glu417Gly) n.927A>G c.369A>G n.780A>G c.1208A>G (p.Glu403Gly) | |
12 | g.102840450T>G | CA386493018 | PAH | c.1265A>C (p.Glu422Ala) c.1250A>C (p.Glu417Ala) n.927A>C c.369A>C n.780A>C c.1208A>C (p.Glu403Ala) | dbSNP |
12 | g.102840450T= | CA2059441633 | PAH | c.1265A= (p.Glu422=) c.1250A= (p.Glu417=) n.927A= c.369A= n.780A= c.1208A= (p.Glu403=) | |
12 | g.102840451C>A | CA386493019 | PAH | c.1264G>T (p.Glu422Ter) c.1249G>T (p.Glu417Ter) n.926G>T c.368G>T n.779G>T c.1207G>T (p.Glu403Ter) | |
12 | g.102840451C= | CA2059441640 | PAH | c.1264G= (p.Glu422=) c.1249G= (p.Glu417=) n.926G= c.368G= n.779G= c.1207G= (p.Glu403=) | |
12 | g.102840451C>G | CA386493020 | PAH | c.1264G>C (p.Glu422Gln) c.1249G>C (p.Glu417Gln) n.926G>C c.368G>C n.779G>C c.1207G>C (p.Glu403Gln) | |
12 | g.102840451C>T | CA229422 | PAH | c.1264G>A (p.Glu422Lys) c.1249G>A (p.Glu417Lys) n.926G>A c.368G>A n.779G>A c.1207G>A (p.Glu403Lys) | ClinVar dbSNP |
12 | g.102840452A>C | CA386493021 | PAH | c.1263T>G (p.Ile421Met) c.1248T>G (p.Ile416Met) n.925T>G c.367T>G n.778T>G c.1206T>G (p.Ile402Met) | |
12 | g.102840452A>G | CA481375357 | PAH | c.1263T>C (p.Ile421=) c.1248T>C (p.Ile416=) n.925T>C c.367T>C n.778T>C c.1206T>C (p.Ile402=) | |
12 | g.102840452A>T | CA481375358 | PAH | c.1263T>A (p.Ile421=) c.1248T>A (p.Ile416=) n.925T>A c.367T>A n.778T>A c.1206T>A (p.Ile402=) | |
12 | g.102840453A= | CA2059441646 | PAH | c.1262T= (p.Ile421=) c.1247T= (p.Ile416=) n.924T= c.366T= n.777T= c.1205T= (p.Ile402=) | |
12 | g.102840453A>C | CA16020986 | PAH | c.1262T>G (p.Ile421Ser) c.1247T>G (p.Ile416Ser) n.924T>G c.366T>G n.777T>G c.1205T>G (p.Ile402Ser) | ClinVar dbSNP |
12 | g.102840453A>G | CA229420 | PAH | c.1262T>C (p.Ile421Thr) c.1247T>C (p.Ile416Thr) n.924T>C c.366T>C n.777T>C c.1205T>C (p.Ile402Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.102840453A>T | CA386493022 | PAH | c.1262T>A (p.Ile421Asn) c.1247T>A (p.Ile416Asn) n.924T>A c.366T>A n.777T>A c.1205T>A (p.Ile402Asn) | |
12 | g.102840454T>A | CA386493023 | PAH | c.1261A>T (p.Ile421Phe) c.1246A>T (p.Ile416Phe) n.923A>T c.365A>T n.776A>T c.1204A>T (p.Ile402Phe) | |
12 | g.102840454T>C | CA386493024 | PAH | c.1261A>G (p.Ile421Val) c.1246A>G (p.Ile416Val) n.923A>G c.365A>G n.776A>G c.1204A>G (p.Ile402Val) | |
12 | g.102840454T>G | CA386493025 | PAH | c.1261A>C (p.Ile421Leu) c.1246A>C (p.Ile416Leu) n.923A>C c.365A>C n.776A>C c.1204A>C (p.Ile402Leu) | |
12 | g.102840455C>A | CA386493027 | PAH | c.1260G>T (p.Arg420Ser) c.1245G>T (p.Arg415Ser) n.922G>T c.364G>T n.775G>T c.1203G>T (p.Arg401Ser) | |
12 | g.102840455C>G | CA386493026 | PAH | c.1260G>C (p.Arg420Ser) c.1245G>C (p.Arg415Ser) n.922G>C c.364G>C n.775G>C c.1203G>C (p.Arg401Ser) | |
12 | g.102840455C>T | CA481375359 | PAH | c.1260G>A (p.Arg420=) c.1245G>A (p.Arg415=) n.922G>A c.364G>A n.775G>A c.1203G>A (p.Arg401=) | |
12 | g.102840456C>A | CA6748704 | PAH | c.1259G>T (p.Arg420Met) c.1244G>T (p.Arg415Met) n.921G>T c.363G>T n.774G>T c.1202G>T (p.Arg401Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840456C= | CA2059441654 | PAH | c.1259G= (p.Arg420=) c.1244G= (p.Arg415=) n.921G= c.363G= n.774G= c.1202G= (p.Arg401=) | |
12 | g.102840456C>G | CA242743437 | PAH | c.1259G>C (p.Arg420Thr) c.1244G>C (p.Arg415Thr) n.921G>C c.363G>C n.774G>C c.1202G>C (p.Arg401Thr) | ClinVar dbSNP gnomAD v4 |
12 | g.102840456C>T | CA386493028 | PAH | c.1259G>A (p.Arg420Lys) c.1244G>A (p.Arg415Lys) n.921G>A c.363G>A n.774G>A c.1202G>A (p.Arg401Lys) | COSMIC |
12 | g.102840457T>A | CA386493029 | PAH | c.1258A>T (p.Arg420Trp) c.1243A>T (p.Arg415Trp) n.920A>T c.362A>T n.773A>T c.1201A>T (p.Arg401Trp) | |
12 | g.102840457T>C | CA386493030 | PAH | c.1258A>G (p.Arg420Gly) c.1243A>G (p.Arg415Gly) n.920A>G c.362A>G n.773A>G c.1201A>G (p.Arg401Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840457T>G | CA481375360 | PAH | c.1258A>C (p.Arg420=) c.1243A>C (p.Arg415=) n.920A>C c.362A>C n.773A>C c.1201A>C (p.Arg401=) | |
12 | g.102840457T= | CA2059441668 | PAH | c.1258A= (p.Arg420=) c.1243A= (p.Arg415=) n.920A= c.362A= n.773A= c.1201A= (p.Arg401=) | |
12 | g.102840458T>A | CA386493031 | PAH | c.1257A>T (p.Gln419His) c.1242A>T (p.Gln414His) n.919A>T c.361A>T n.772A>T c.1200A>T (p.Gln400His) | |
12 | g.102840458T>C | CA481375361 | PAH | c.1257A>G (p.Gln419=) c.1242A>G (p.Gln414=) n.919A>G c.361A>G n.772A>G c.1200A>G (p.Gln400=) | ClinVar dbSNP |
12 | g.102840458T>G | CA386493032 | PAH | c.1257A>C (p.Gln419His) c.1242A>C (p.Gln414His) n.919A>C c.361A>C n.772A>C c.1200A>C (p.Gln400His) | |
12 | g.102840459T>A | CA386493033 | PAH | c.1256A>T (p.Gln419Leu) c.1241A>T (p.Gln414Leu) n.918A>T c.360A>T n.771A>T c.1199A>T (p.Gln400Leu) | |
12 | g.102840459T>C | CA6748705 | PAH | c.1256A>G (p.Gln419Arg) c.1241A>G (p.Gln414Arg) n.918A>G c.360A>G n.771A>G c.1199A>G (p.Gln400Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840459T>G | CA16020985 | PAH | c.1256A>C (p.Gln419Pro) c.1241A>C (p.Gln414Pro) n.918A>C c.360A>C n.771A>C c.1199A>C (p.Gln400Pro) | |
12 | g.102840459T= | CA2059441678 | PAH | c.1256A= (p.Gln419=) c.1241A= (p.Gln414=) n.918A= c.360A= n.771A= c.1199A= (p.Gln400=) | |
12 | g.102840460G>A | CA386493034 | PAH | c.1255C>T (p.Gln419Ter) c.1240C>T (p.Gln414Ter) n.917C>T c.359C>T n.770C>T c.1198C>T (p.Gln400Ter) | gnomAD v4 |
12 | g.102840460G>C | CA386493035 | PAH | c.1255C>G (p.Gln419Glu) c.1240C>G (p.Gln414Glu) n.917C>G c.359C>G n.770C>G c.1198C>G (p.Gln400Glu) | |
12 | g.102840460G>T | CA386493036 | PAH | c.1255C>A (p.Gln419Lys) c.1240C>A (p.Gln414Lys) n.917C>A c.359C>A n.770C>A c.1198C>A (p.Gln400Lys) | gnomAD v3 gnomAD v4 |
12 | g.102840461G>A | CA6748706 | PAH | c.1254C>T (p.Thr418=) c.1239C>T (p.Thr413=) n.916C>T c.358C>T n.769C>T c.1197C>T (p.Thr399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102840461G>C | CA481375362 | PAH | c.1254C>G (p.Thr418=) c.1239C>G (p.Thr413=) n.916C>G c.358C>G n.769C>G c.1197C>G (p.Thr399=) | |
12 | g.102840461G= | CA2059441682 | PAH | c.1254C= (p.Thr418=) c.1239C= (p.Thr413=) n.916C= c.358C= n.769C= c.1197C= (p.Thr399=) | |
12 | g.102840461G>T | CA481375363 | PAH | c.1254C>A (p.Thr418=) c.1239C>A (p.Thr413=) n.916C>A c.358C>A n.769C>A c.1197C>A (p.Thr399=) | ClinVar dbSNP |
12 | g.102840462G>A | CA386493037 | PAH | c.1253C>T (p.Thr418Ile) c.1238C>T (p.Thr413Ile) n.915C>T c.357C>T n.768C>T c.1196C>T (p.Thr399Ile) | ClinVar dbSNP |
12 | g.102840462G>C | CA386493038 | PAH | c.1253C>G (p.Thr418Ser) c.1238C>G (p.Thr413Ser) n.915C>G c.357C>G n.768C>G c.1196C>G (p.Thr399Ser) | |
12 | g.102840462G= | CA2059441688 | PAH | c.1253C= (p.Thr418=) c.1238C= (p.Thr413=) n.915C= c.357C= n.768C= c.1196C= (p.Thr399=) | |
12 | g.102840462G>T | CA16020984 | PAH | c.1253C>A (p.Thr418Asn) c.1238C>A (p.Thr413Asn) n.915C>A c.357C>A n.768C>A c.1196C>A (p.Thr399Asn) | ClinVar |
12 | g.102840463T>A | CA386493039 | PAH | c.1252A>T (p.Thr418Ser) c.1237A>T (p.Thr413Ser) n.914A>T c.356A>T n.767A>T c.1195A>T (p.Thr399Ser) | |
12 | g.102840463T>C | CA386493040 | PAH | c.1252A>G (p.Thr418Ala) c.1237A>G (p.Thr413Ala) n.914A>G c.356A>G n.767A>G c.1195A>G (p.Thr399Ala) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.102840463T>G | CA229418 | PAH | c.1252A>C (p.Thr418Pro) c.1237A>C (p.Thr413Pro) n.914A>C c.356A>C n.767A>C c.1195A>C (p.Thr399Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840463T= | CA2059441702 | PAH | c.1252A= (p.Thr418=) c.1237A= (p.Thr413=) n.914A= c.356A= n.767A= c.1195A= (p.Thr399=) | |
12 | g.102840464G>A | CA481375364 | PAH | c.1251C>T (p.Tyr417=) c.1236C>T (p.Tyr412=) n.913C>T c.355C>T n.766C>T c.1194C>T (p.Tyr398=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.102840464G>C | CA386493041 | PAH | c.1251C>G (p.Tyr417Ter) c.1236C>G (p.Tyr412Ter) n.913C>G c.355C>G n.766C>G c.1194C>G (p.Tyr398Ter) | |
12 | g.102840464G= | CA2059441708 | PAH | c.1251C= (p.Tyr417=) c.1236C= (p.Tyr412=) n.913C= c.355C= n.766C= c.1194C= (p.Tyr398=) | |
12 | g.102840464G>T | CA386493042 | PAH | c.1251C>A (p.Tyr417Ter) c.1236C>A (p.Tyr412Ter) n.913C>A c.355C>A n.766C>A c.1194C>A (p.Tyr398Ter) | COSMIC |
12 | g.102840465T>A | CA386493044 | PAH | c.1250A>T (p.Tyr417Phe) c.1235A>T (p.Tyr412Phe) n.912A>T c.354A>T n.765A>T c.1193A>T (p.Tyr398Phe) | |
12 | g.102840465T>C | CA16020983 | PAH | c.1250A>G (p.Tyr417Cys) c.1235A>G (p.Tyr412Cys) n.912A>G c.354A>G n.765A>G c.1193A>G (p.Tyr398Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.102840465T>G | CA386493043 | PAH | c.1250A>C (p.Tyr417Ser) c.1235A>C (p.Tyr412Ser) n.912A>C c.354A>C n.765A>C c.1193A>C (p.Tyr398Ser) | |
12 | g.102840465T= | CA2059441716 | PAH | c.1250A= (p.Tyr417=) c.1235A= (p.Tyr412=) n.912A= c.354A= n.765A= c.1193A= (p.Tyr398=) | |
12 | g.102840466A= | CA2059441723 | PAH | c.1249T= (p.Tyr417=) c.1234T= (p.Tyr412=) n.911T= c.353T= n.764T= c.1192T= (p.Tyr398=) | |
12 | g.102840466A>C | CA16020982 | PAH | c.1249T>G (p.Tyr417Asp) c.1234T>G (p.Tyr412Asp) n.911T>G c.353T>G n.764T>G c.1192T>G (p.Tyr398Asp) | ClinVar dbSNP |
12 | g.102840466A>G | CA229417 | PAH | c.1249T>C (p.Tyr417His) c.1234T>C (p.Tyr412His) n.911T>C c.353T>C n.764T>C c.1192T>C (p.Tyr398His) | ClinVar dbSNP |
12 | g.102840466A>T | CA229415 | PAH | c.1249T>A (p.Tyr417Asn) c.1234T>A (p.Tyr412Asn) n.911T>A c.353T>A n.764T>A c.1192T>A (p.Tyr398Asn) | ClinVar dbSNP |
12 | g.102840467T>A | CA481375365 | PAH | c.1248A>T (p.Pro416=) c.1233A>T (p.Pro411=) n.910A>T c.352A>T n.763A>T c.1191A>T (p.Pro397=) | |
12 | g.102840467T>C | CA481375366 | PAH | c.1248A>G (p.Pro416=) c.1233A>G (p.Pro411=) n.910A>G c.352A>G n.763A>G c.1191A>G (p.Pro397=) | ClinVar gnomAD v4 |
12 | g.102840467T>G | CA481375367 | PAH | c.1248A>C (p.Pro416=) c.1233A>C (p.Pro411=) n.910A>C c.352A>C n.763A>C c.1191A>C (p.Pro397=) | ClinVar dbSNP gnomAD v4 |
12 | g.102840467T= | CA2059441736 | PAH | c.1248A= (p.Pro416=) c.1233A= (p.Pro411=) n.910A= c.352A= n.763A= c.1191A= (p.Pro397=) | |
12 | g.102840467_102840468delinsGT | CA2695217219 | PAH | c.1247_1248delinsAC (p.Pro416His) c.1232_1233delinsAC (p.Pro411His) n.909_910delinsAC c.351_352delinsAC n.762_763delinsAC c.1190_1191delinsAC (p.Pro397His) | |
12 | g.102840468G>A | CA386493045 | PAH | c.1247C>T (p.Pro416Leu) c.1232C>T (p.Pro411Leu) n.909C>T c.351C>T n.762C>T c.1190C>T (p.Pro397Leu) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102840468G>C | CA386493046 | PAH | c.1247C>G (p.Pro416Arg) c.1232C>G (p.Pro411Arg) n.909C>G c.351C>G n.762C>G c.1190C>G (p.Pro397Arg) | |
12 | g.102840468G= | CA2059441746 | PAH | c.1247C= (p.Pro416=) c.1232C= (p.Pro411=) n.909C= c.351C= n.762C= c.1190C= (p.Pro397=) | |
12 | g.102840468G>T | CA16020981 | PAH | c.1247C>A (p.Pro416Gln) c.1232C>A (p.Pro411Gln) n.909C>A c.351C>A n.762C>A c.1190C>A (p.Pro397Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.102840470del | CA2695217220 | PAH | c.1247del (p.Pro416HisfsTer?) c.1232del (p.Pro411HisfsTer?) n.909del c.351del n.762del c.1190del (p.Pro397HisfsTer?) | |
12 | g.102840469G>A | CA386493047 | PAH | c.1246C>T (p.Pro416Ser) c.1231C>T (p.Pro411Ser) n.908C>T c.350C>T n.761C>T c.1189C>T (p.Pro397Ser) | |
12 | g.102840469G>C | CA386493048 | PAH | c.1246C>G (p.Pro416Ala) c.1231C>G (p.Pro411Ala) n.908C>G c.350C>G n.761C>G c.1189C>G (p.Pro397Ala) | |
12 | g.102840469G= | CA2059441765 | PAH | c.1246C= (p.Pro416=) c.1231C= (p.Pro411=) n.908C= c.350C= n.761C= c.1189C= (p.Pro397=) | |
12 | g.102840469G>T | CA16020980 | PAH | c.1246C>A (p.Pro416Thr) c.1231C>A (p.Pro411Thr) n.908C>A c.350C>A n.761C>A c.1189C>A (p.Pro397Thr) | ClinVar dbSNP |
12 | g.102840470G>A | CA481375368 | PAH | c.1245C>T (p.Asp415=) c.1230C>T (p.Asp410=) n.907C>T c.349C>T n.760C>T c.1188C>T (p.Asp396=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840470G>C | CA386493049 | PAH | c.1245C>G (p.Asp415Glu) c.1230C>G (p.Asp410Glu) n.907C>G c.349C>G n.760C>G c.1188C>G (p.Asp396Glu) | |
12 | g.102840470G= | CA2059441772 | PAH | c.1245C= (p.Asp415=) c.1230C= (p.Asp410=) n.907C= c.349C= n.760C= c.1188C= (p.Asp396=) | |
12 | g.102840470G>T | CA386493050 | PAH | c.1245C>A (p.Asp415Glu) c.1230C>A (p.Asp410Glu) n.907C>A c.349C>A n.760C>A c.1188C>A (p.Asp396Glu) | |
12 | g.102840471T>A | CA16020979 | PAH | c.1244A>T (p.Asp415Val) c.1229A>T (p.Asp410Val) n.906A>T c.348A>T n.759A>T c.1187A>T (p.Asp396Val) | ClinVar dbSNP |
12 | g.102840471T>C | CA386493051 | PAH | c.1244A>G (p.Asp415Gly) c.1229A>G (p.Asp410Gly) n.906A>G c.348A>G n.759A>G c.1187A>G (p.Asp396Gly) | |
12 | g.102840471T>G | CA386493052 | PAH | c.1244A>C (p.Asp415Ala) c.1229A>C (p.Asp410Ala) n.906A>C c.348A>C n.759A>C c.1187A>C (p.Asp396Ala) | |
12 | g.102840472C>A | CA16020978 | PAH | c.1243G>T (p.Asp415Tyr) c.1228G>T (p.Asp410Tyr) n.905G>T c.347G>T n.758G>T c.1186G>T (p.Asp396Tyr) | ClinVar dbSNP gnomAD v4 |
12 | g.102840472C= | CA2059441785 | PAH | c.1243G= (p.Asp415=) c.1228G= (p.Asp410=) n.905G= c.347G= n.758G= c.1186G= (p.Asp396=) | |
12 | g.102840472C>G | CA386493053 | PAH | c.1243G>C (p.Asp415His) c.1228G>C (p.Asp410His) n.905G>C c.347G>C n.758G>C c.1186G>C (p.Asp396His) | |
12 | g.102840472C>T | CA114364 | PAH | c.1243G>A (p.Asp415Asn) c.1228G>A (p.Asp410Asn) n.905G>A c.347G>A n.758G>A c.1186G>A (p.Asp396Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.102840473G>A | CA200893 | PAH | c.1242C>T (p.Tyr414=) c.1227C>T (p.Tyr409=) n.904C>T c.346C>T n.757C>T c.1185C>T (p.Tyr395=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840473G>C | CA386493054 | PAH | c.1242C>G (p.Tyr414Ter) c.1227C>G (p.Tyr409Ter) n.904C>G c.346C>G n.757C>G c.1185C>G (p.Tyr395Ter) | gnomAD v4 |
12 | g.102840473G= | CA2059441798 | PAH | c.1242C= (p.Tyr414=) c.1227C= (p.Tyr409=) n.904C= c.346C= n.757C= c.1185C= (p.Tyr395=) | |
12 | g.102840473G>T | CA16020977 | PAH | c.1242C>A (p.Tyr414Ter) c.1227C>A (p.Tyr409Ter) n.904C>A c.346C>A n.757C>A c.1185C>A (p.Tyr395Ter) | ClinVar |
12 | g.102840474T>A | CA386493055 | PAH | c.1241A>T (p.Tyr414Phe) c.1226A>T (p.Tyr409Phe) n.903A>T c.345A>T n.756A>T c.1184A>T (p.Tyr395Phe) | |
12 | g.102840474T>C | CA114362 | PAH | c.1241A>G (p.Tyr414Cys) c.1226A>G (p.Tyr409Cys) n.903A>G c.345A>G n.756A>G c.1184A>G (p.Tyr395Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840474T>G | CA386493056 | PAH | c.1241A>C (p.Tyr414Ser) c.1226A>C (p.Tyr409Ser) n.903A>C c.345A>C n.756A>C c.1184A>C (p.Tyr395Ser) | |
12 | g.102840474T= | CA2059441810 | PAH | c.1241A= (p.Tyr414=) c.1226A= (p.Tyr409=) n.903A= c.345A= n.756A= c.1184A= (p.Tyr395=) | |
12 | g.102840474_102840477delinsCAGG | CA2580616845 | PAH | c.1238_1241delinsCCTG (p.Arg413_Tyr414delinsProCys) c.1223_1226delinsCCTG (p.Arg408_Tyr409delinsProCys) n.900_903delinsCCTG c.342_345delinsCCTG n.753_756delinsCCTG c.1181_1184delinsCCTG (p.Arg394_Tyr395delinsProCys) | ClinVar |
12 | g.102840475A= | CA2059441817 | PAH | c.1240T= (p.Tyr414=) c.1225T= (p.Tyr409=) n.902T= c.344T= n.755T= c.1183T= (p.Tyr395=) | |
12 | g.102840475A>C | CA386493057 | PAH | c.1240T>G (p.Tyr414Asp) c.1225T>G (p.Tyr409Asp) n.902T>G c.344T>G n.755T>G c.1183T>G (p.Tyr395Asp) | |
12 | g.102840475A>G | CA267637 | PAH | c.1240T>C (p.Tyr414His) c.1225T>C (p.Tyr409His) n.902T>C c.344T>C n.755T>C c.1183T>C (p.Tyr395His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840475A>T | CA386493058 | PAH | c.1240T>A (p.Tyr414Asn) c.1225T>A (p.Tyr409Asn) n.902T>A c.344T>A n.755T>A c.1183T>A (p.Tyr395Asn) | |
12 | g.102840476G>A | CA481375369 | PAH | c.1239C>T (p.Arg413=) c.1224C>T (p.Arg408=) n.901C>T c.343C>T n.754C>T c.1182C>T (p.Arg394=) | |
12 | g.102840476G>C | CA481375370 | PAH | c.1239C>G (p.Arg413=) c.1224C>G (p.Arg408=) n.901C>G c.343C>G n.754C>G c.1182C>G (p.Arg394=) | |
12 | g.102840476G>T | CA481375371 | PAH | c.1239C>A (p.Arg413=) c.1224C>A (p.Arg408=) n.901C>A c.343C>A n.754C>A c.1182C>A (p.Arg394=) | |
12 | g.102840477C>A | CA386493059 | PAH | c.1238G>T (p.Arg413Leu) c.1223G>T (p.Arg408Leu) n.900G>T c.342G>T n.753G>T c.1181G>T (p.Arg394Leu) | dbSNP gnomAD v4 |
12 | g.102840477C= | CA2059441827 | PAH | c.1238G= (p.Arg413=) c.1223G= (p.Arg408=) n.900G= c.342G= n.753G= c.1181G= (p.Arg394=) | |
12 | g.102840477C>G | CA229414 | PAH | c.1238G>C (p.Arg413Pro) c.1223G>C (p.Arg408Pro) n.900G>C c.342G>C n.753G>C c.1181G>C (p.Arg394Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102840477C>T | CA6748707 | PAH | c.1238G>A (p.Arg413His) c.1223G>A (p.Arg408His) n.900G>A c.342G>A n.753G>A c.1181G>A (p.Arg394His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.102840478G>A | CA229412 | PAH | c.1237C>T (p.Arg413Cys) c.1222C>T (p.Arg408Cys) n.899C>T c.341C>T n.752C>T c.1180C>T (p.Arg394Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.102840478G>C | CA16020976 | PAH | c.1237C>G (p.Arg413Gly) c.1222C>G (p.Arg408Gly) n.899C>G c.341C>G n.752C>G c.1180C>G (p.Arg394Gly) | ClinVar dbSNP |
12 | g.102840478G= | CA2059441846 | PAH | c.1237C= (p.Arg413=) c.1222C= (p.Arg408=) n.899C= c.341C= n.752C= c.1180C= (p.Arg394=) | |
12 | g.102840478G>T | CA229411 | PAH | c.1237C>A (p.Arg413Ser) c.1222C>A (p.Arg408Ser) n.899C>A c.341C>A n.752C>A c.1180C>A (p.Arg394Ser) | ClinVar dbSNP |
12 | g.102840479A>C | CA481375372 | PAH | c.1236T>G (p.Val412=) c.1221T>G (p.Val407=) n.898T>G c.340T>G n.751T>G c.1179T>G (p.Val393=) | |
12 | g.102840479A>G | CA481375374 | PAH | c.1236T>C (p.Val412=) c.1221T>C (p.Val407=) n.898T>C c.340T>C n.751T>C c.1179T>C (p.Val393=) | |
12 | g.102840479A>T | CA481375373 | PAH | c.1236T>A (p.Val412=) c.1221T>A (p.Val407=) n.898T>A c.340T>A n.751T>A c.1179T>A (p.Val393=) | |
12 | g.102840480A= | CA2059441865 | PAH | c.1235T= (p.Val412=) c.1220T= (p.Val407=) n.897T= c.339T= n.750T= c.1178T= (p.Val393=) | |
12 | g.102840480A>C | CA16020975 | PAH | c.1235T>G (p.Val412Gly) c.1220T>G (p.Val407Gly) n.897T>G c.339T>G n.750T>G c.1178T>G (p.Val393Gly) | ClinVar dbSNP |
12 | g.102840480A>G | CA386493060 | PAH | c.1235T>C (p.Val412Ala) c.1220T>C (p.Val407Ala) n.897T>C c.339T>C n.750T>C c.1178T>C (p.Val393Ala) | COSMIC |
12 | g.102840480A>T | CA386493061 | PAH | c.1235T>A (p.Val412Asp) c.1220T>A (p.Val407Asp) n.897T>A c.339T>A n.750T>A c.1178T>A (p.Val393Asp) | |
12 | g.102840481C>A | CA242743457 | PAH | c.1234G>T (p.Val412Phe) c.1219G>T (p.Val407Phe) n.896G>T c.338G>T n.749G>T c.1177G>T (p.Val393Phe) | dbSNP |
12 | g.102840481C= | CA2059441879 | PAH | c.1234G= (p.Val412=) c.1219G= (p.Val407=) n.896G= c.338G= n.749G= c.1177G= (p.Val393=) | |
12 | g.102840481C>G | CA386493062 | PAH | c.1234G>C (p.Val412Leu) c.1219G>C (p.Val407Leu) n.896G>C c.338G>C n.749G>C c.1177G>C (p.Val393Leu) | |
12 | g.102840481C>T | CA386493063 | PAH | c.1234G>A (p.Val412Ile) c.1219G>A (p.Val407Ile) n.896G>A c.338G>A n.749G>A c.1177G>A (p.Val393Ile) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.102840482T>A | CA481375375 | PAH | c.1233A>T (p.Ser411=) c.1218A>T (p.Ser406=) n.895A>T c.337A>T n.748A>T c.1176A>T (p.Ser392=) | |
12 | g.102840482T>C | CA481375376 | PAH | c.1233A>G (p.Ser411=) c.1218A>G (p.Ser406=) n.895A>G c.337A>G n.748A>G c.1176A>G (p.Ser392=) | |
12 | g.102840482T>G | CA481375377 | PAH | c.1233A>C (p.Ser411=) c.1218A>C (p.Ser406=) n.895A>C c.337A>C n.748A>C c.1176A>C (p.Ser392=) | |
12 | g.102840483G>A | CA386493064 | PAH | c.1232C>T (p.Ser411Leu) c.1217C>T (p.Ser406Leu) n.894C>T c.336C>T n.747C>T c.1175C>T (p.Ser392Leu) | |
12 | g.102840483G>C | CA16020974 | PAH | c.1232C>G (p.Ser411Ter) c.1217C>G (p.Ser406Ter) n.894C>G c.336C>G n.747C>G c.1175C>G (p.Ser392Ter) | ClinVar |
12 | g.102840483G= | CA2059441893 | PAH | c.1232C= (p.Ser411=) c.1217C= (p.Ser406=) n.894C= c.336C= n.747C= c.1175C= (p.Ser392=) | |
12 | g.102840483G>T | CA229409 | PAH | c.1232C>A (p.Ser411Ter) c.1217C>A (p.Ser406Ter) n.894C>A c.336C>A n.747C>A c.1175C>A (p.Ser392Ter) | ClinVar dbSNP |
12 | g.102840484A>C | CA386493065 | PAH | c.1231T>G (p.Ser411Ala) c.1216T>G (p.Ser406Ala) n.893T>G c.335T>G n.746T>G c.1174T>G (p.Ser392Ala) | |
12 | g.102840484A>G | CA386493066 | PAH | c.1231T>C (p.Ser411Pro) c.1216T>C (p.Ser406Pro) n.893T>C c.335T>C n.746T>C c.1174T>C (p.Ser392Pro) | |
12 | g.102840484A>T | CA386493067 | PAH | c.1231T>A (p.Ser411Thr) c.1216T>A (p.Ser406Thr) n.893T>A c.335T>A n.746T>A c.1174T>A (p.Ser392Thr) | |
12 | g.102840485G>A | CA481375378 | PAH | c.1230C>T (p.Phe410=) c.1215C>T (p.Phe405=) n.892C>T c.334C>T n.745C>T c.1173C>T (p.Phe391=) | |
12 | g.102840485G>C | CA386493068 | PAH | c.1230C>G (p.Phe410Leu) c.1215C>G (p.Phe405Leu) n.892C>G c.334C>G n.745C>G c.1173C>G (p.Phe391Leu) | |
12 | g.102840485G>T | CA386493069 | PAH | c.1230C>A (p.Phe410Leu) c.1215C>A (p.Phe405Leu) n.892C>A c.334C>A n.745C>A c.1173C>A (p.Phe391Leu) | |
12 | g.102840486A= | CA2059441912 | PAH | c.1229T= (p.Phe410=) c.1214T= (p.Phe405=) n.891T= c.333T= n.744T= c.1172T= (p.Phe391=) | |
12 | g.102840486A>C | CA229406 | PAH | c.1229T>G (p.Phe410Cys) c.1214T>G (p.Phe405Cys) n.891T>G c.333T>G n.744T>G c.1172T>G (p.Phe391Cys) | ClinVar dbSNP |
12 | g.102840486A>G | CA229405 | PAH | c.1229T>C (p.Phe410Ser) c.1214T>C (p.Phe405Ser) n.891T>C c.333T>C n.744T>C c.1172T>C (p.Phe391Ser) | ClinVar dbSNP gnomAD v4 |
12 | g.102840486A>T | CA386493070 | PAH | c.1229T>A (p.Phe410Tyr) c.1214T>A (p.Phe405Tyr) n.891T>A c.333T>A n.744T>A c.1172T>A (p.Phe391Tyr) | |
12 | g.102840487A= | CA2059441923 | PAH | c.1228T= (p.Phe410=) c.1213T= (p.Phe405=) n.890T= c.332T= n.743T= c.1171T= (p.Phe391=) | |
12 | g.102840487A>C | CA386493071 | PAH | c.1228T>G (p.Phe410Val) c.1213T>G (p.Phe405Val) n.890T>G c.332T>G n.743T>G c.1171T>G (p.Phe391Val) | |
12 | g.102840487A>G | CA386493072 | PAH | c.1228T>C (p.Phe410Leu) c.1213T>C (p.Phe405Leu) n.890T>C c.332T>C n.743T>C c.1171T>C (p.Phe391Leu) | |
12 | g.102840487A>T | CA16020973 | PAH | c.1228T>A (p.Phe410Ile) c.1213T>A (p.Phe405Ile) n.890T>A c.332T>A n.743T>A c.1171T>A (p.Phe391Ile) | ClinVar dbSNP COSMIC |
12 | g.102840488G>A | CA481375379 | PAH | c.1227C>T (p.Pro409=) c.1212C>T (p.Pro404=) n.889C>T c.331C>T n.742C>T c.1170C>T (p.Pro390=) | |
12 | g.102840488G>C | CA481375380 | PAH | c.1227C>G (p.Pro409=) c.1212C>G (p.Pro404=) n.889C>G c.331C>G n.742C>G c.1170C>G (p.Pro390=) | |
12 | g.102840488G>T | CA481375381 | PAH | c.1227C>A (p.Pro409=) c.1212C>A (p.Pro404=) n.889C>A c.331C>A n.742C>A c.1170C>A (p.Pro390=) | |
12 | g.102840489G>A | CA386493073 | PAH | c.1226C>T (p.Pro409Leu) c.1211C>T (p.Pro404Leu) n.888C>T c.330C>T n.741C>T c.1169C>T (p.Pro390Leu) | gnomAD v4 |
12 | g.102840489G>C | CA386493075 | PAH | c.1226C>G (p.Pro409Arg) c.1211C>G (p.Pro404Arg) n.888C>G c.330C>G n.741C>G c.1169C>G (p.Pro390Arg) | gnomAD v4 |
12 | g.102840489G>T | CA386493074 | PAH | c.1226C>A (p.Pro409His) c.1211C>A (p.Pro404His) n.888C>A c.330C>A n.741C>A c.1169C>A (p.Pro390His) | COSMIC |
12 | g.102840490G>A | CA386493076 | PAH | c.1225C>T (p.Pro409Ser) c.1210C>T (p.Pro404Ser) n.887C>T c.329C>T n.740C>T c.1168C>T (p.Pro390Ser) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.102840490G>C | CA386493077 | PAH | c.1225C>G (p.Pro409Ala) c.1210C>G (p.Pro404Ala) n.887C>G c.329C>G n.740C>G c.1168C>G (p.Pro390Ala) | |
12 | g.102840490G= | CA2059441932 | PAH | c.1225C= (p.Pro409=) c.1210C= (p.Pro404=) n.887C= c.329C= n.740C= c.1168C= (p.Pro390=) | |
12 | g.102840490G>T | CA386493078 | PAH | c.1225C>A (p.Pro409Thr) c.1210C>A (p.Pro404Thr) n.887C>A c.329C>A n.740C>A c.1168C>A (p.Pro390Thr) | COSMIC |
12 | g.102840491C>A | CA481375382 | PAH | c.1224G>T (p.Arg408=) c.1209G>T (p.Arg403=) n.886G>T c.328G>T n.739G>T c.1167G>T (p.Arg389=) | |
12 | g.102840491C>G | CA481375384 | PAH | c.1224G>C (p.Arg408=) c.1209G>C (p.Arg403=) n.886G>C c.328G>C n.739G>C c.1167G>C (p.Arg389=) | |
12 | g.102840491C>T | CA481375383 | PAH | c.1224G>A (p.Arg408=) c.1209G>A (p.Arg403=) n.886G>A c.328G>A n.739G>A c.1167G>A (p.Arg389=) | |
12 | g.102840492C>A | CA386493079 | PAH | c.1223G>T (p.Arg408Leu) c.1208G>T (p.Arg403Leu) n.885G>T c.327G>T n.738G>T c.1166G>T (p.Arg389Leu) | COSMIC |
12 | g.102840492C= | CA2059441935 | PAH | c.1223G= (p.Arg408=) c.1208G= (p.Arg403=) n.885G= c.327G= n.738G= c.1166G= (p.Arg389=) | |
12 | g.102840492C>G | CA386493080 | PAH | c.1223G>C (p.Arg408Pro) c.1208G>C (p.Arg403Pro) n.885G>C c.327G>C n.738G>C c.1166G>C (p.Arg389Pro) | |
12 | g.102840492C>T | CA229404 | PAH | c.1223G>A (p.Arg408Gln) c.1208G>A (p.Arg403Gln) n.885G>A c.327G>A n.738G>A c.1166G>A (p.Arg389Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840493del | CA16020972 | PAH | c.1222del (p.Arg408GlyfsTer?) c.1207del (p.Arg403GlyfsTer?) n.884del c.326del n.737del c.1165del (p.Arg389GlyfsTer?) | |
12 | g.102840493G>A | CA251523 | PAH | c.1222C>T (p.Arg408Trp) c.1207C>T (p.Arg403Trp) n.884C>T c.326C>T n.737C>T c.1165C>T (p.Arg389Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840493G>C | CA386493081 | PAH | c.1222C>G (p.Arg408Gly) c.1207C>G (p.Arg403Gly) n.884C>G c.326C>G n.737C>G c.1165C>G (p.Arg389Gly) | |
12 | g.102840493G= | CA2059441944 | PAH | c.1222C= (p.Arg408=) c.1207C= (p.Arg403=) n.884C= c.326C= n.737C= c.1165C= (p.Arg389=) | |
12 | g.102840493G>T | CA481375385 | PAH | c.1222C>A (p.Arg408=) c.1207C>A (p.Arg403=) n.884C>A c.326C>A n.737C>A c.1165C>A (p.Arg389=) | |
12 | g.102840494A>C | CA481375386 | PAH | c.1221T>G (p.Pro407=) c.1206T>G (p.Pro402=) n.883T>G c.325T>G n.736T>G c.1164T>G (p.Pro388=) | ClinVar |
12 | g.102840494A>G | CA481375387 | PAH | c.1221T>C (p.Pro407=) c.1206T>C (p.Pro402=) n.883T>C c.325T>C n.736T>C c.1164T>C (p.Pro388=) | gnomAD v4 |
12 | g.102840494A>T | CA481375388 | PAH | c.1221T>A (p.Pro407=) c.1206T>A (p.Pro402=) n.883T>A c.325T>A n.736T>A c.1164T>A (p.Pro388=) | gnomAD v4 |
12 | g.102840494_102840495delinsAG | CA2059441948 | PAH | c.1220_1221delinsCT (p.Pro407=) c.1205_1206delinsCT (p.Pro402=) n.882_883delinsCT c.324_325delinsCT n.735_736delinsCT c.1163_1164delinsCT (p.Pro388=) | |
12 | g.102840495G>A | CA229402 | PAH | c.1220C>T (p.Pro407Leu) c.1205C>T (p.Pro402Leu) n.882C>T c.324C>T n.735C>T c.1163C>T (p.Pro388Leu) | ClinVar dbSNP |
12 | g.102840495G>C | CA386493082 | PAH | c.1220C>G (p.Pro407Arg) c.1205C>G (p.Pro402Arg) n.882C>G c.324C>G n.735C>G c.1163C>G (p.Pro388Arg) | |
12 | g.102840495G= | CA2059441966 | PAH | c.1220C= (p.Pro407=) c.1205C= (p.Pro402=) n.882C= c.324C= n.735C= c.1163C= (p.Pro388=) | |
12 | g.102840495G>T | CA386493083 | PAH | c.1220C>A (p.Pro407His) c.1205C>A (p.Pro402His) n.882C>A c.324C>A n.735C>A c.1163C>A (p.Pro388His) | |
12 | g.102840496del | CA229403 | PAH | c.1220del (p.Pro407LeufsTer?) c.1205del (p.Pro402LeufsTer?) n.882del c.324del n.735del c.1163del (p.Pro388LeufsTer?) | ClinVar dbSNP |
12 | g.102840495_102840499del | CA2695217221 | PAH | c.1216_1220del (p.Ile406SerfsTer15) c.1201_1205del (p.Ile401SerfsTer15) n.878_882del c.320_324del n.731_735del c.1159_1163del (p.Ile387SerfsTer15) | |
12 | g.102840495_102840500delinsGGTATT | CA2059441961 | PAH | c.1215_1220delinsAATACC (p.Thr405=) c.1200_1205delinsAATACC (p.Thr400=) n.877_882delinsAATACC c.319_324delinsAATACC n.730_735delinsAATACC c.1158_1163delinsAATACC (p.Thr386=) | |
12 | g.102840496G>A | CA229400 | PAH | c.1219C>T (p.Pro407Ser) c.1204C>T (p.Pro402Ser) n.881C>T c.323C>T n.734C>T c.1162C>T (p.Pro388Ser) | ClinVar dbSNP gnomAD v4 |
12 | g.102840496G>C | CA386493084 | PAH | c.1219C>G (p.Pro407Ala) c.1204C>G (p.Pro402Ala) n.881C>G c.323C>G n.734C>G c.1162C>G (p.Pro388Ala) | |
12 | g.102840496G= | CA2059441978 | PAH | c.1219C= (p.Pro407=) c.1204C= (p.Pro402=) n.881C= c.323C= n.734C= c.1162C= (p.Pro388=) | |
12 | g.102840496G>T | CA386493085 | PAH | c.1219C>A (p.Pro407Thr) c.1204C>A (p.Pro402Thr) n.881C>A c.323C>A n.734C>A c.1162C>A (p.Pro388Thr) | |
12 | g.102840498_102840502del | CA16020971 | PAH | c.1215_1219del (p.Ile406SerfsTer15) c.1200_1204del (p.Ile401SerfsTer15) n.877_881del c.319_323del n.730_734del c.1158_1162del (p.Ile387SerfsTer15) | ClinVar dbSNP |
12 | g.102840497T>A | CA481375389 | PAH | c.1218A>T (p.Ile406=) c.1203A>T (p.Ile401=) n.880A>T c.322A>T n.733A>T c.1161A>T (p.Ile387=) | |
12 | g.102840497T>C | CA6748708 | PAH | c.1218A>G (p.Ile406Met) c.1203A>G (p.Ile401Met) n.880A>G c.322A>G n.733A>G c.1161A>G (p.Ile387Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840497T>G | CA481375390 | PAH | c.1218A>C (p.Ile406=) c.1203A>C (p.Ile401=) n.880A>C c.322A>C n.733A>C c.1161A>C (p.Ile387=) | |
12 | g.102840497T= | CA2059441989 | PAH | c.1218A= (p.Ile406=) c.1203A= (p.Ile401=) n.880A= c.322A= n.733A= c.1161A= (p.Ile387=) | |
12 | g.102840498A= | CA2059442004 | PAH | c.1217T= (p.Ile406=) c.1202T= (p.Ile401=) n.879T= c.321T= n.732T= c.1160T= (p.Ile387=) | |
12 | g.102840498A>C | CA386493086 | PAH | c.1217T>G (p.Ile406Arg) c.1202T>G (p.Ile401Arg) n.879T>G c.321T>G n.732T>G c.1160T>G (p.Ile387Arg) | |
12 | g.102840498A>G | CA229398 | PAH | c.1217T>C (p.Ile406Thr) c.1202T>C (p.Ile401Thr) n.879T>C c.321T>C n.732T>C c.1160T>C (p.Ile387Thr) | ClinVar dbSNP |
12 | g.102840498A>T | CA386493087 | PAH | c.1217T>A (p.Ile406Lys) c.1202T>A (p.Ile401Lys) n.879T>A c.321T>A n.732T>A c.1160T>A (p.Ile387Lys) | |
12 | g.102840499T>A | CA386493088 | PAH | c.1216A>T (p.Ile406Leu) c.1201A>T (p.Ile401Leu) n.878A>T c.320A>T n.731A>T c.1159A>T (p.Ile387Leu) | |
12 | g.102840499T>C | CA6748709 | PAH | c.1216A>G (p.Ile406Val) c.1201A>G (p.Ile401Val) n.878A>G c.320A>G n.731A>G c.1159A>G (p.Ile387Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840499T>G | CA386493089 | PAH | c.1216A>C (p.Ile406Leu) c.1201A>C (p.Ile401Leu) n.878A>C c.320A>C n.731A>C c.1159A>C (p.Ile387Leu) | |
12 | g.102840499T= | CA2059442033 | PAH | c.1216A= (p.Ile406=) c.1201A= (p.Ile401=) n.878A= c.320A= n.731A= c.1159A= (p.Ile387=) | |
12 | g.102840500dup | CA2797242739 | PAH | c.1216dup (p.Ile406AsnfsTer17) c.1201dup (p.Ile401AsnfsTer17) n.878dup c.320dup n.731dup c.1159dup (p.Ile387AsnfsTer17) | |
12 | g.102840500T>A | CA481375392 | PAH | c.1215A>T (p.Thr405=) c.1200A>T (p.Thr400=) n.877A>T c.319A>T n.730A>T c.1158A>T (p.Thr386=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.102840500T>C | CA6748710 | PAH | c.1215A>G (p.Thr405=) c.1200A>G (p.Thr400=) n.877A>G c.319A>G n.730A>G c.1158A>G (p.Thr386=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102840500T>G | CA481375391 | PAH | c.1215A>C (p.Thr405=) c.1200A>C (p.Thr400=) n.877A>C c.319A>C n.730A>C c.1158A>C (p.Thr386=) | |
12 | g.102840500T= | CA2059442037 | PAH | c.1215A= (p.Thr405=) c.1200A= (p.Thr400=) n.877A= c.319A= n.730A= c.1158A= (p.Thr386=) | |
12 | g.102840501G>A | CA386493090 | PAH | c.1214C>T (p.Thr405Ile) c.1199C>T (p.Thr400Ile) n.876C>T c.318C>T n.729C>T c.1157C>T (p.Thr386Ile) | |
12 | g.102840501G>C | CA386493091 | PAH | c.1214C>G (p.Thr405Arg) c.1199C>G (p.Thr400Arg) n.876C>G c.318C>G n.729C>G c.1157C>G (p.Thr386Arg) | |
12 | g.102840501G>T | CA386493092 | PAH | c.1214C>A (p.Thr405Lys) c.1199C>A (p.Thr400Lys) n.876C>A c.318C>A n.729C>A c.1157C>A (p.Thr386Lys) | |
12 | g.102840502T>A | CA386493095 | PAH | c.1213A>T (p.Thr405Ser) c.1198A>T (p.Thr400Ser) n.875A>T c.317A>T n.728A>T c.1156A>T (p.Thr386Ser) | |
12 | g.102840502T>C | CA386493094 | PAH | c.1213A>G (p.Thr405Ala) c.1198A>G (p.Thr400Ala) n.875A>G c.317A>G n.728A>G c.1156A>G (p.Thr386Ala) | |
12 | g.102840502T>G | CA386493093 | PAH | c.1213A>C (p.Thr405Pro) c.1198A>C (p.Thr400Pro) n.875A>C c.317A>C n.728A>C c.1156A>C (p.Thr386Pro) | |
12 | g.102840503G>A | CA481375393 | PAH | c.1212C>T (p.Ala404=) c.1197C>T (p.Ala399=) n.874C>T c.316C>T n.727C>T c.1155C>T (p.Ala385=) | |
12 | g.102840503G>C | CA481375394 | PAH | c.1212C>G (p.Ala404=) c.1197C>G (p.Ala399=) n.874C>G c.316C>G n.727C>G c.1155C>G (p.Ala385=) | |
12 | g.102840503G>T | CA481375395 | PAH | c.1212C>A (p.Ala404=) c.1197C>A (p.Ala399=) n.874C>A c.316C>A n.727C>A c.1155C>A (p.Ala385=) | |
12 | g.102840504G>A | CA386493096 | PAH | c.1211C>T (p.Ala404Val) c.1196C>T (p.Ala399Val) n.873C>T c.315C>T n.726C>T c.1154C>T (p.Ala385Val) | gnomAD v4 |
12 | g.102840504G>C | CA386493098 | PAH | c.1211C>G (p.Ala404Gly) c.1196C>G (p.Ala399Gly) n.873C>G c.315C>G n.726C>G c.1154C>G (p.Ala385Gly) | |
12 | g.102840504G>T | CA386493097 | PAH | c.1211C>A (p.Ala404Asp) c.1196C>A (p.Ala399Asp) n.873C>A c.315C>A n.726C>A c.1154C>A (p.Ala385Asp) | |
12 | g.102840505C>A | CA386493099 | PAH | c.1210G>T (p.Ala404Ser) c.1195G>T (p.Ala399Ser) n.872G>T c.314G>T n.725G>T c.1153G>T (p.Ala385Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840505C= | CA2059442043 | PAH | c.1210G= (p.Ala404=) c.1195G= (p.Ala399=) n.872G= c.314G= n.725G= c.1153G= (p.Ala385=) | |
12 | g.102840505C>G | CA10605090 | PAH | c.1210G>C (p.Ala404Pro) c.1195G>C (p.Ala399Pro) n.872G>C c.314G>C n.725G>C c.1153G>C (p.Ala385Pro) | ClinVar dbSNP gnomAD v4 |
12 | g.102840505C>T | CA386493100 | PAH | c.1210G>A (p.Ala404Thr) c.1195G>A (p.Ala399Thr) n.872G>A c.314G>A n.725G>A c.1153G>A (p.Ala385Thr) | |
12 | g.102840505_102840506del | CA912973340 | PAH | c.1209_1210del (p.Ala404HisfsTer18) c.1194_1195del (p.Ala399HisfsTer18) n.871_872del c.313_314del n.724_725del c.1152_1153del (p.Ala385HisfsTer18) | |
12 | g.102840505_102840506delinsCA | CA2059442050 | PAH | c.1209_1210delinsTG (p.Ala403=) c.1194_1195delinsTG (p.Ala398=) n.871_872delinsTG c.313_314delinsTG n.724_725delinsTG c.1152_1153delinsTG (p.Ala384=) | |
12 | g.102840506del | CA658821440 | PAH | c.1209del (p.Ala404ProfsTer?) c.1194del (p.Ala399ProfsTer?) n.871del c.313del n.724del c.1152del (p.Ala385ProfsTer?) | ClinVar dbSNP |
12 | g.102840506A>C | CA481375396 | PAH | c.1209T>G (p.Ala403=) c.1194T>G (p.Ala398=) n.871T>G c.313T>G n.724T>G c.1152T>G (p.Ala384=) | |
12 | g.102840506A>G | CA481375397 | PAH | c.1209T>C (p.Ala403=) c.1194T>C (p.Ala398=) n.871T>C c.313T>C n.724T>C c.1152T>C (p.Ala384=) | |
12 | g.102840506A>T | CA481375398 | PAH | c.1209T>A (p.Ala403=) c.1194T>A (p.Ala398=) n.871T>A c.313T>A n.724T>A c.1152T>A (p.Ala384=) | |
12 | g.102840507G>A | CA273106 | PAH | c.1208C>T (p.Ala403Val) c.1193C>T (p.Ala398Val) n.870C>T c.312C>T n.723C>T c.1151C>T (p.Ala384Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840507G>C | CA386493102 | PAH | c.1208C>G (p.Ala403Gly) c.1193C>G (p.Ala398Gly) n.870C>G c.312C>G n.723C>G c.1151C>G (p.Ala384Gly) | |
12 | g.102840507G= | CA2059442069 | PAH | c.1208C= (p.Ala403=) c.1193C= (p.Ala398=) n.870C= c.312C= n.723C= c.1151C= (p.Ala384=) | |
12 | g.102840507G>T | CA386493101 | PAH | c.1208C>A (p.Ala403Asp) c.1193C>A (p.Ala398Asp) n.870C>A c.312C>A n.723C>A c.1151C>A (p.Ala384Asp) | |
12 | g.102840508C>A | CA386493103 | PAH | c.1207G>T (p.Ala403Ser) c.1192G>T (p.Ala398Ser) n.869G>T c.311G>T n.722G>T c.1150G>T (p.Ala384Ser) | gnomAD v4 |
12 | g.102840508C= | CA2059442076 | PAH | c.1207G= (p.Ala403=) c.1192G= (p.Ala398=) n.869G= c.311G= n.722G= c.1150G= (p.Ala384=) | |
12 | g.102840508C>G | CA386493104 | PAH | c.1207G>C (p.Ala403Pro) c.1192G>C (p.Ala398Pro) n.869G>C c.311G>C n.722G>C c.1150G>C (p.Ala384Pro) | dbSNP |
12 | g.102840508C>T | CA386493105 | PAH | c.1207G>A (p.Ala403Thr) c.1192G>A (p.Ala398Thr) n.869G>A c.311G>A n.722G>A c.1150G>A (p.Ala384Thr) | |
12 | g.102840509A>C | CA386493106 | PAH | c.1206T>G (p.Phe402Leu) c.1191T>G (p.Phe397Leu) n.868T>G c.310T>G n.721T>G c.1149T>G (p.Phe383Leu) | |
12 | g.102840509A>G | CA481375399 | PAH | c.1206T>C (p.Phe402=) c.1191T>C (p.Phe397=) n.868T>C c.310T>C n.721T>C c.1149T>C (p.Phe383=) | |
12 | g.102840509A>T | CA386493107 | PAH | c.1206T>A (p.Phe402Leu) c.1191T>A (p.Phe397Leu) n.868T>A c.310T>A n.721T>A c.1149T>A (p.Phe383Leu) | |
12 | g.102840510A= | CA2059442083 | PAH | c.1205T= (p.Phe402=) c.1190T= (p.Phe397=) n.867T= c.309T= n.720T= c.1148T= (p.Phe383=) | |
12 | g.102840510A>C | CA16020970 | PAH | c.1205T>G (p.Phe402Cys) c.1190T>G (p.Phe397Cys) n.867T>G c.309T>G n.720T>G c.1148T>G (p.Phe383Cys) | ClinVar dbSNP |
12 | g.102840510A>G | CA386493108 | PAH | c.1205T>C (p.Phe402Ser) c.1190T>C (p.Phe397Ser) n.867T>C c.309T>C n.720T>C c.1148T>C (p.Phe383Ser) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.102840510A>T | CA386493109 | PAH | c.1205T>A (p.Phe402Tyr) c.1190T>A (p.Phe397Tyr) n.867T>A c.309T>A n.720T>A c.1148T>A (p.Phe383Tyr) | |
12 | g.102840511A= | CA2059442089 | PAH | c.1204T= (p.Phe402=) c.1189T= (p.Phe397=) n.866T= c.308T= n.719T= c.1147T= (p.Phe383=) | |
12 | g.102840511A>C | CA16020969 | PAH | c.1204T>G (p.Phe402Val) c.1189T>G (p.Phe397Val) n.866T>G c.308T>G n.719T>G c.1147T>G (p.Phe383Val) | ClinVar dbSNP |
12 | g.102840511A>G | CA229396 | PAH | c.1204T>C (p.Phe402Leu) c.1189T>C (p.Phe397Leu) n.866T>C c.308T>C n.719T>C c.1147T>C (p.Phe383Leu) | ClinVar dbSNP |
12 | g.102840511A>T | CA16020968 | PAH | c.1204T>A (p.Phe402Ile) c.1189T>A (p.Phe397Ile) n.866T>A c.308T>A n.719T>A c.1147T>A (p.Phe383Ile) | ClinVar dbSNP |
12 | g.102840512G>A | CA481375400 | PAH | c.1203C>T (p.Asn401=) c.1188C>T (p.Asn396=) n.865C>T c.307C>T n.718C>T c.1146C>T (p.Asn382=) | gnomAD v4 |
12 | g.102840512G>C | CA386493110 | PAH | c.1203C>G (p.Asn401Lys) c.1188C>G (p.Asn396Lys) n.865C>G c.307C>G n.718C>G c.1146C>G (p.Asn382Lys) | |
12 | g.102840512G>T | CA386493111 | PAH | c.1203C>A (p.Asn401Lys) c.1188C>A (p.Asn396Lys) n.865C>A c.307C>A n.718C>A c.1146C>A (p.Asn382Lys) | |
12 | g.102840513T>A | CA386493114 | PAH | c.1202A>T (p.Asn401Ile) c.1187A>T (p.Asn396Ile) n.961A>T n.864A>T c.306A>T n.717A>T c.1145A>T (p.Asn382Ile) | |
12 | g.102840513T>C | CA386493112 | PAH | c.1202A>G (p.Asn401Ser) c.1187A>G (p.Asn396Ser) n.961A>G n.864A>G c.306A>G n.717A>G c.1145A>G (p.Asn382Ser) | gnomAD v4 |
12 | g.102840513T>G | CA386493113 | PAH | c.1202A>C (p.Asn401Thr) c.1187A>C (p.Asn396Thr) n.961A>C n.864A>C c.306A>C n.717A>C c.1145A>C (p.Asn382Thr) | |
12 | g.102840514T>A | CA386493115 | PAH | c.1201A>T (p.Asn401Tyr) c.1186A>T (p.Asn396Tyr) n.960A>T n.863A>T c.305A>T n.716A>T c.1144A>T (p.Asn382Tyr) | |
12 | g.102840514T>C | CA386493116 | PAH | c.1201A>G (p.Asn401Asp) c.1186A>G (p.Asn396Asp) n.960A>G n.863A>G c.305A>G n.716A>G c.1144A>G (p.Asn382Asp) | |
12 | g.102840514T>G | CA386493117 | PAH | c.1201A>C (p.Asn401His) c.1186A>C (p.Asn396His) n.960A>C n.863A>C c.305A>C n.716A>C c.1144A>C (p.Asn382His) | |
12 | g.102840514_102840515delinsTC | CA2059442098 | PAH | c.1200_1201delinsGA (p.Arg400=) c.1185_1186delinsGA (p.Arg395=) n.959_960delinsGA n.862_863delinsGA c.304_305delinsGA n.715_716delinsGA c.1143_1144delinsGA (p.Arg381=) | |
12 | g.102840515C>A | CA16020967 | PAH | c.1200G>T (p.Arg400Ser) c.1185G>T (p.Arg395Ser) n.959G>T n.862G>T c.304G>T n.715G>T c.1143G>T (p.Arg381Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.102840515C= | CA2059442114 | PAH | c.1200G= (p.Arg400=) c.1185G= (p.Arg395=) n.959G= n.862G= c.304G= n.715G= c.1143G= (p.Arg381=) | |
12 | g.102840515C>G | CA386493118 | PAH | c.1200G>C (p.Arg400Ser) c.1185G>C (p.Arg395Ser) n.959G>C n.862G>C c.304G>C n.715G>C c.1143G>C (p.Arg381Ser) | |
12 | g.102840515C>T | CA481375401 | PAH | c.1200G>A (p.Arg400=) c.1185G>A (p.Arg395=) n.959G>A n.862G>A c.304G>A n.715G>A c.1143G>A (p.Arg381=) | COSMIC |
12 | g.102840516dup | CA16040586 | PAH | c.1200dup c.1185dup n.959dup n.862dup c.304dup n.715dup c.1143dup | |
12 | g.102840516del | CA229394 | PAH | c.1200del c.1185del n.959del n.862del c.304del n.715del c.1143del | ClinVar dbSNP |
12 | g.102840516C>A | CA386493119 | PAH | c.1200-1G>T (n.1200-1G>T) c.1185-1G>T (n.1185-1G>T) n.959-1G>T n.862-1G>T c.304-1G>T n.715-1G>T c.1143-1G>T (n.1143-1G>T) | gnomAD v4 |
12 | g.102840516C= | CA2059442121 | PAH | c.1200-1G= (n.1200-1G=) c.1185-1G= (n.1185-1G=) n.959-1G= n.862-1G= c.304-1G= n.715-1G= c.1143-1G= (n.1143-1G=) | |
12 | g.102840516C>G | CA16020966 | PAH | c.1200-1G>C (n.1200-1G>C) c.1185-1G>C (n.1185-1G>C) n.959-1G>C n.862-1G>C c.304-1G>C n.715-1G>C c.1143-1G>C (n.1143-1G>C) | ClinVar dbSNP |
12 | g.102840516C>T | CA220577 | PAH | c.1200-1G>A (n.1200-1G>A) c.1185-1G>A (n.1185-1G>A) n.959-1G>A n.862-1G>A c.304-1G>A n.715-1G>A c.1143-1G>A (n.1143-1G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.102840517T>A | CA386493120 | PAH | c.1200-2A>T (n.1200-2A>T) c.1185-2A>T (n.1185-2A>T) n.959-2A>T n.862-2A>T c.304-2A>T n.715-2A>T c.1143-2A>T (n.1143-2A>T) | |
12 | g.102840517T>C | CA16020965 | PAH | c.1200-2A>G (n.1200-2A>G) c.1185-2A>G (n.1185-2A>G) n.959-2A>G n.862-2A>G c.304-2A>G n.715-2A>G c.1143-2A>G (n.1143-2A>G) | ClinVar dbSNP |
12 | g.102840517T>G | CA386493121 | PAH | c.1200-2A>C (n.1200-2A>C) c.1185-2A>C (n.1185-2A>C) n.959-2A>C n.862-2A>C c.304-2A>C n.715-2A>C c.1143-2A>C (n.1143-2A>C) | ClinVar dbSNP |
12 | g.102840517T= | CA2059442128 | PAH | c.1200-2A= (n.1200-2A=) c.1185-2A= (n.1185-2A=) n.959-2A= n.862-2A= c.304-2A= n.715-2A= c.1143-2A= (n.1143-2A=) | |
12 | g.102840518A= | CA2059442129 | PAH | c.1200-3T= (n.1200-3T=) c.1185-3T= (n.1185-3T=) n.959-3T= n.862-3T= c.304-3T= n.715-3T= c.1143-3T= (n.1143-3T=) | |
12 | g.102840518A>C | CA1139532534 | PAH | c.1200-3T>G (n.1200-3T>G) c.1185-3T>G (n.1185-3T>G) n.959-3T>G n.862-3T>G c.304-3T>G n.715-3T>G c.1143-3T>G (n.1143-3T>G) | ClinVar dbSNP |
12 | g.102840518A>G | CA2538546009 | PAH | c.1200-3T>C (n.1200-3T>C) c.1185-3T>C (n.1185-3T>C) n.959-3T>C n.862-3T>C c.304-3T>C n.715-3T>C c.1143-3T>C (n.1143-3T>C) | |
12 | g.102840519A>T | CA2499221390 | PAH | c.1200-4T>A (n.1200-4T>A) c.1185-4T>A (n.1185-4T>A) n.959-4T>A n.862-4T>A c.304-4T>A n.715-4T>A c.1143-4T>A (n.1143-4T>A) | ClinVar dbSNP |
12 | g.102840520G>A | CA2517542929 | PAH | c.1200-5C>T (n.1200-5C>T) c.1185-5C>T (n.1185-5C>T) n.959-5C>T n.862-5C>T c.304-5C>T n.715-5C>T c.1143-5C>T (n.1143-5C>T) | |
12 | g.102840520G>T | CA2620526996 | PAH | c.1200-5C>A (n.1200-5C>A) c.1185-5C>A (n.1185-5C>A) n.959-5C>A n.862-5C>A c.304-5C>A n.715-5C>A c.1143-5C>A (n.1143-5C>A) | gnomAD v4 |
12 | g.102840521A>G | CA2620526997 | PAH | c.1200-6T>C (n.1200-6T>C) c.1185-6T>C (n.1185-6T>C) n.959-6T>C n.862-6T>C c.304-6T>C n.715-6T>C c.1143-6T>C (n.1143-6T>C) | gnomAD v4 |
12 | g.102840523C>A | CA6748711 | PAH | c.1200-8G>T (n.1200-8G>T) c.1185-8G>T (n.1185-8G>T) n.959-8G>T n.862-8G>T c.304-8G>T n.715-8G>T c.1143-8G>T (n.1143-8G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102840523C= | CA2059442130 | PAH | c.1200-8G= (n.1200-8G=) c.1185-8G= (n.1185-8G=) n.959-8G= n.862-8G= c.304-8G= n.715-8G= c.1143-8G= (n.1143-8G=) | |
12 | g.102840523C>G | CA6748712 | PAH | c.1200-8G>C (n.1200-8G>C) c.1185-8G>C (n.1185-8G>C) n.959-8G>C n.862-8G>C c.304-8G>C n.715-8G>C c.1143-8G>C (n.1143-8G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102840523C>T | CA229395 | PAH | c.1200-8G>A (n.1200-8G>A) c.1185-8G>A (n.1185-8G>A) n.959-8G>A n.862-8G>A c.304-8G>A n.715-8G>A c.1143-8G>A (n.1143-8G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.102840524A= | CA2059442131 | PAH | c.1200-9T= (n.1200-9T=) c.1185-9T= (n.1185-9T=) n.959-9T= n.862-9T= c.304-9T= n.715-9T= c.1143-9T= (n.1143-9T=) | |
12 | g.102840524A>G | CA607427234 | PAH | c.1200-9T>C (n.1200-9T>C) c.1185-9T>C (n.1185-9T>C) n.959-9T>C n.862-9T>C c.304-9T>C n.715-9T>C c.1143-9T>C (n.1143-9T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.102840527del | CA2620527001 | PAH | c.1200-9del (n.1200-9del) c.1185-9del (n.1185-9del) n.959-9del n.862-9del c.304-9del n.715-9del c.1143-9del (n.1143-9del) | gnomAD v4 |
12 | g.102840528C= | CA2059442132 | PAH | c.1200-13G= (n.1200-13G=) c.1185-13G= (n.1185-13G=) n.959-13G= n.862-13G= c.304-13G= n.715-13G= c.1143-13G= (n.1143-13G=) | |
12 | g.102840528C>G | CA607427235 | PAH | c.1200-13G>C (n.1200-13G>C) c.1185-13G>C (n.1185-13G>C) n.959-13G>C n.862-13G>C c.304-13G>C n.715-13G>C c.1143-13G>C (n.1143-13G>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.102840528C>T | CA2620527002 | PAH | c.1200-13G>A (n.1200-13G>A) c.1185-13G>A (n.1185-13G>A) n.959-13G>A n.862-13G>A c.304-13G>A n.715-13G>A c.1143-13G>A (n.1143-13G>A) | gnomAD v4 |
12 | g.102840529del | CA2575266755 | PAH | c.1200-13del (n.1200-13del) c.1185-13del (n.1185-13del) n.959-13del n.862-13del c.304-13del n.715-13del c.1143-13del (n.1143-13del) | |
12 | g.102840530A>G | CA2726966339 | PAH | c.1200-15T>C (n.1200-15T>C) c.1185-15T>C (n.1185-15T>C) n.959-15T>C n.862-15T>C c.304-15T>C n.715-15T>C c.1143-15T>C (n.1143-15T>C) | dbSNP |
12 | g.102840531C>A | CA2797242748 | PAH | c.1200-16G>T (n.1200-16G>T) c.1185-16G>T (n.1185-16G>T) n.959-16G>T n.862-16G>T c.304-16G>T n.715-16G>T c.1143-16G>T (n.1143-16G>T) | |
12 | g.102840531C>T | CA2575266756 | PAH | c.1200-16G>A (n.1200-16G>A) c.1185-16G>A (n.1185-16G>A) n.959-16G>A n.862-16G>A c.304-16G>A n.715-16G>A c.1143-16G>A (n.1143-16G>A) | ClinVar |
12 | g.102840532A>C | CA2697551026 | PAH | c.1200-17T>G (n.1200-17T>G) c.1185-17T>G (n.1185-17T>G) n.959-17T>G n.862-17T>G c.304-17T>G n.715-17T>G c.1143-17T>G (n.1143-17T>G) | ClinVar |
12 | g.102840532A>G | CA2620527003 | PAH | c.1200-17T>C (n.1200-17T>C) c.1185-17T>C (n.1185-17T>C) n.959-17T>C n.862-17T>C c.304-17T>C n.715-17T>C c.1143-17T>C (n.1143-17T>C) | gnomAD v4 |
12 | g.102840533G>T | CA2620527004 | PAH | c.1200-18C>A (n.1200-18C>A) c.1185-18C>A (n.1185-18C>A) n.959-18C>A n.862-18C>A c.304-18C>A n.715-18C>A c.1143-18C>A (n.1143-18C>A) | gnomAD v4 |
12 | g.102840534G>T | CA2575266757 | PAH | c.1200-19C>A (n.1200-19C>A) c.1185-19C>A (n.1185-19C>A) n.959-19C>A n.862-19C>A c.304-19C>A n.715-19C>A c.1143-19C>A (n.1143-19C>A) | ClinVar gnomAD v4 |
12 | g.102840535C>A | CA2797242758 | PAH | c.1200-20G>T (n.1200-20G>T) c.1185-20G>T (n.1185-20G>T) n.959-20G>T n.862-20G>T c.304-20G>T n.715-20G>T c.1143-20G>T (n.1143-20G>T) | |
12 | g.102840535C>T | CA2620527005 | PAH | c.1200-20G>A (n.1200-20G>A) c.1185-20G>A (n.1185-20G>A) n.959-20G>A n.862-20G>A c.304-20G>A n.715-20G>A c.1143-20G>A (n.1143-20G>A) | gnomAD v4 |