Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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.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 |