| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843648_102846953del | CA251545 | PAH | c.914_1199+1del c.899_1184+1del n.673_958+1del n.576_861+1del c.74-2519_303+1del n.429_714+1del c.913-2519_1142+1del | ClinVar |
| 12 | g.102843649_102843652del | CA229378 | PAH | c.1196_1199del (p.Val399GlyfsTer?) c.1181_1184del (p.Val394GlyfsTer?) n.955_958del n.858_861del c.300_303del n.711_714del c.1139_1142del (p.Val380GlyfsTer?) | ClinVar dbSNP |
| 12 | g.102843651T>A | CA386493132 | PAH | c.1194A>T (p.Lys398Asn) c.1179A>T (p.Lys393Asn) n.953A>T n.856A>T c.298A>T n.709A>T c.1137A>T (p.Lys379Asn) | COSMIC |
| 12 | g.102843651T>C | CA229376 | PAH | c.1194A>G (p.Lys398=) c.1179A>G (p.Lys393=) n.953A>G n.856A>G c.298A>G n.709A>G c.1137A>G (p.Lys379=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102843651T>G | CA16020959 | PAH | c.1194A>C (p.Lys398Asn) c.1179A>C (p.Lys393Asn) n.953A>C n.856A>C c.298A>C n.709A>C c.1137A>C (p.Lys379Asn) | ClinVar dbSNP |
| 12 | g.102843651T= | CA2059446327 | PAH | c.1194A= (p.Lys398=) c.1179A= (p.Lys393=) n.953A= n.856A= c.298A= n.709A= c.1137A= (p.Lys379=) | |
| 12 | g.102843652T>A | CA386493133 | PAH | c.1193A>T (p.Lys398Ile) c.1178A>T (p.Lys393Ile) n.952A>T n.855A>T c.297A>T n.708A>T c.1136A>T (p.Lys379Ile) | |
| 12 | g.102843652T>C | CA386493134 | PAH | c.1193A>G (p.Lys398Arg) c.1178A>G (p.Lys393Arg) n.952A>G n.855A>G c.297A>G n.708A>G c.1136A>G (p.Lys379Arg) | |
| 12 | g.102843652T>G | CA386493135 | PAH | c.1193A>C (p.Lys398Thr) c.1178A>C (p.Lys393Thr) n.952A>C n.855A>C c.297A>C n.708A>C c.1136A>C (p.Lys379Thr) | |
| 12 | g.102843653T>A | CA386493136 | PAH | c.1192A>T (p.Lys398Ter) c.1177A>T (p.Lys393Ter) n.951A>T n.854A>T c.296A>T n.707A>T c.1135A>T (p.Lys379Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843653T>C | CA386493137 | PAH | c.1192A>G (p.Lys398Glu) c.1177A>G (p.Lys393Glu) n.951A>G n.854A>G c.296A>G n.707A>G c.1135A>G (p.Lys379Glu) | |
| 12 | g.102843653T>G | CA386493138 | PAH | c.1192A>C (p.Lys398Gln) c.1177A>C (p.Lys393Gln) n.951A>C n.854A>C c.296A>C n.707A>C c.1135A>C (p.Lys379Gln) | |
| 12 | g.102843654C>A | CA386493139 | PAH | c.1191G>T (p.Glu397Asp) c.1176G>T (p.Glu392Asp) n.950G>T n.853G>T c.295G>T n.706G>T c.1134G>T (p.Glu378Asp) | |
| 12 | g.102843654C>G | CA386493140 | PAH | c.1191G>C (p.Glu397Asp) c.1176G>C (p.Glu392Asp) n.950G>C n.853G>C c.295G>C n.706G>C c.1134G>C (p.Glu378Asp) | |
| 12 | g.102843654C>T | CA481375587 | PAH | c.1191G>A (p.Glu397=) c.1176G>A (p.Glu392=) n.950G>A n.853G>A c.295G>A n.706G>A c.1134G>A (p.Glu378=) | |
| 12 | g.102843655T>A | CA386493141 | PAH | c.1190A>T (p.Glu397Val) c.1175A>T (p.Glu392Val) n.949A>T n.852A>T c.294A>T n.705A>T c.1133A>T (p.Glu378Val) | |
| 12 | g.102843655T>C | CA386493142 | PAH | c.1190A>G (p.Glu397Gly) c.1175A>G (p.Glu392Gly) n.949A>G n.852A>G c.294A>G n.705A>G c.1133A>G (p.Glu378Gly) | |
| 12 | g.102843655T>G | CA386493143 | PAH | c.1190A>C (p.Glu397Ala) c.1175A>C (p.Glu392Ala) n.949A>C n.852A>C c.294A>C n.705A>C c.1133A>C (p.Glu378Ala) | |
| 12 | g.102843656C>A | CA386493144 | PAH | c.1189G>T (p.Glu397Ter) c.1174G>T (p.Glu392Ter) n.948G>T n.851G>T c.293G>T n.704G>T c.1132G>T (p.Glu378Ter) | |
| 12 | g.102843656C= | CA2059446331 | PAH | c.1189G= (p.Glu397=) c.1174G= (p.Glu392=) n.948G= n.851G= c.293G= n.704G= c.1132G= (p.Glu378=) | |
| 12 | g.102843656C>G | CA386493145 | PAH | c.1189G>C (p.Glu397Gln) c.1174G>C (p.Glu392Gln) n.948G>C n.851G>C c.293G>C n.704G>C c.1132G>C (p.Glu378Gln) | |
| 12 | g.102843656C>T | CA386493146 | PAH | c.1189G>A (p.Glu397Lys) c.1174G>A (p.Glu392Lys) n.948G>A n.851G>A c.293G>A n.704G>A c.1132G>A (p.Glu378Lys) | dbSNP gnomAD v4 COSMIC |
| 12 | g.102843657C>A | CA386493147 | PAH | c.1188G>T (p.Lys396Asn) c.1173G>T (p.Lys391Asn) n.947G>T n.850G>T c.292G>T n.703G>T c.1131G>T (p.Lys377Asn) | |
| 12 | g.102843657C= | CA2059446336 | PAH | c.1188G= (p.Lys396=) c.1173G= (p.Lys391=) n.947G= n.850G= c.292G= n.703G= c.1131G= (p.Lys377=) | |
| 12 | g.102843657C>G | CA386493148 | PAH | c.1188G>C (p.Lys396Asn) c.1173G>C (p.Lys391Asn) n.947G>C n.850G>C c.292G>C n.703G>C c.1131G>C (p.Lys377Asn) | |
| 12 | g.102843657C>T | CA6748728 | PAH | c.1188G>A (p.Lys396=) c.1173G>A (p.Lys391=) n.947G>A n.850G>A c.292G>A n.703G>A c.1131G>A (p.Lys377=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102843658T>A | CA386493149 | PAH | c.1187A>T (p.Lys396Met) c.1172A>T (p.Lys391Met) n.946A>T n.849A>T c.291A>T n.702A>T c.1130A>T (p.Lys377Met) | |
| 12 | g.102843658T>C | CA6748729 | PAH | c.1187A>G (p.Lys396Arg) c.1172A>G (p.Lys391Arg) n.946A>G n.849A>G c.291A>G n.702A>G c.1130A>G (p.Lys377Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102843658T>G | CA386493150 | PAH | c.1187A>C (p.Lys396Thr) c.1172A>C (p.Lys391Thr) n.946A>C n.849A>C c.291A>C n.702A>C c.1130A>C (p.Lys377Thr) | |
| 12 | g.102843658T= | CA2059446345 | PAH | c.1187A= (p.Lys396=) c.1172A= (p.Lys391=) n.946A= n.849A= c.291A= n.702A= c.1130A= (p.Lys377=) | |
| 12 | g.102843659T>A | CA386493152 | PAH | c.1186A>T (p.Lys396Ter) c.1171A>T (p.Lys391Ter) n.945A>T n.848A>T c.290A>T n.701A>T c.1129A>T (p.Lys377Ter) | |
| 12 | g.102843659T>C | CA386493153 | PAH | c.1186A>G (p.Lys396Glu) c.1171A>G (p.Lys391Glu) n.945A>G n.848A>G c.290A>G n.701A>G c.1129A>G (p.Lys377Glu) | |
| 12 | g.102843659T>G | CA386493151 | PAH | c.1186A>C (p.Lys396Gln) c.1171A>C (p.Lys391Gln) n.945A>C n.848A>C c.290A>C n.701A>C c.1129A>C (p.Lys377Gln) | |
| 12 | g.102843660G>A | CA481375603 | PAH | c.1185C>T (p.Ala395=) c.1170C>T (p.Ala390=) n.944C>T n.847C>T c.289C>T n.700C>T c.1128C>T (p.Ala376=) | |
| 12 | g.102843660G>C | CA481375604 | PAH | c.1185C>G (p.Ala395=) c.1170C>G (p.Ala390=) n.944C>G n.847C>G c.289C>G n.700C>G c.1128C>G (p.Ala376=) | |
| 12 | g.102843660G= | CA2059446353 | PAH | c.1185C= (p.Ala395=) c.1170C= (p.Ala390=) n.944C= n.847C= c.289C= n.700C= c.1128C= (p.Ala376=) | |
| 12 | g.102843660G>T | CA6748730 | PAH | c.1185C>A (p.Ala395=) c.1170C>A (p.Ala390=) n.944C>A n.847C>A c.289C>A n.700C>A c.1128C>A (p.Ala376=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843661G>A | CA386493154 | PAH | c.1184C>T (p.Ala395Val) c.1169C>T (p.Ala390Val) n.943C>T n.846C>T c.288C>T n.699C>T c.1127C>T (p.Ala376Val) | |
| 12 | g.102843661G>C | CA286498 | PAH | c.1184C>G (p.Ala395Gly) c.1169C>G (p.Ala390Gly) n.943C>G n.846C>G c.288C>G n.699C>G c.1127C>G (p.Ala376Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843661G= | CA2059446361 | PAH | c.1184C= (p.Ala395=) c.1169C= (p.Ala390=) n.943C= n.846C= c.288C= n.699C= c.1127C= (p.Ala376=) | |
| 12 | g.102843661G>T | CA229374 | PAH | c.1184C>A (p.Ala395Asp) c.1169C>A (p.Ala390Asp) n.943C>A n.846C>A c.288C>A n.699C>A c.1127C>A (p.Ala376Asp) | ClinVar dbSNP |
| 12 | g.102843662C>A | CA386493155 | PAH | c.1183G>T (p.Ala395Ser) c.1168G>T (p.Ala390Ser) n.942G>T n.845G>T c.287G>T n.698G>T c.1126G>T (p.Ala376Ser) | COSMIC |
| 12 | g.102843662C= | CA2059446375 | PAH | c.1183G= (p.Ala395=) c.1168G= (p.Ala390=) n.942G= n.845G= c.287G= n.698G= c.1126G= (p.Ala376=) | |
| 12 | g.102843662C>G | CA229373 | PAH | c.1183G>C (p.Ala395Pro) c.1168G>C (p.Ala390Pro) n.942G>C n.845G>C c.287G>C n.698G>C c.1126G>C (p.Ala376Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843662C>T | CA386493156 | PAH | c.1183G>A (p.Ala395Thr) c.1168G>A (p.Ala390Thr) n.942G>A n.845G>A c.287G>A n.698G>A c.1126G>A (p.Ala376Thr) | |
| 12 | g.102843663A= | CA2059446377 | PAH | c.1182T= (p.Asp394=) c.1167T= (p.Asp389=) n.941T= n.844T= c.286T= n.697T= c.1125T= (p.Asp375=) | |
| 12 | g.102843663A>C | CA386493157 | PAH | c.1182T>G (p.Asp394Glu) c.1167T>G (p.Asp389Glu) n.941T>G n.844T>G c.286T>G n.697T>G c.1125T>G (p.Asp375Glu) | |
| 12 | g.102843663A>G | CA481375614 | PAH | c.1182T>C (p.Asp394=) c.1167T>C (p.Asp389=) n.941T>C n.844T>C c.286T>C n.697T>C c.1125T>C (p.Asp375=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102843663A>T | CA386493158 | PAH | c.1182T>A (p.Asp394Glu) c.1167T>A (p.Asp389Glu) n.941T>A n.844T>A c.286T>A n.697T>A c.1125T>A (p.Asp375Glu) | |
| 12 | g.102843664T>A | CA386493159 | PAH | c.1181A>T (p.Asp394Val) c.1166A>T (p.Asp389Val) n.940A>T n.843A>T c.285A>T n.696A>T c.1124A>T (p.Asp375Val) |