UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843645C>A | CA16020960 | PAH | c.1199+1G>T (n.1199+1G>T) c.1184+1G>T (n.1184+1G>T) n.958+1G>T n.861+1G>T c.303+1G>T n.714+1G>T c.1142+1G>T (n.1142+1G>T) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843645C= | CA2059446274 | PAH | c.1199+1G= (n.1199+1G=) c.1184+1G= (n.1184+1G=) n.958+1G= n.861+1G= c.303+1G= n.714+1G= c.1142+1G= (n.1142+1G=) | |
| 12 | g.102843645C>G | CA274088 | PAH | c.1199+1G>C (n.1199+1G>C) c.1184+1G>C (n.1184+1G>C) n.958+1G>C n.861+1G>C c.303+1G>C n.714+1G>C c.1142+1G>C (n.1142+1G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102843645C>T | CA229385 | PAH | c.1199+1G>A (n.1199+1G>A) c.1184+1G>A (n.1184+1G>A) n.958+1G>A n.861+1G>A c.303+1G>A n.714+1G>A c.1142+1G>A (n.1142+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102843645_102843649delinsCCTTA | CA2059446277 | PAH | c.1196_1199+1delinsTAAGG c.1181_1184+1delinsTAAGG n.955_958+1delinsTAAGG n.858_861+1delinsTAAGG c.300_303+1delinsTAAGG n.711_714+1delinsTAAGG c.1139_1142+1delinsTAAGG | |
| 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.102843646C>A | CA386493124 | PAH | c.1199G>T (p.Arg400Met) c.1184G>T (p.Arg395Met) n.958G>T n.861G>T c.303G>T n.714G>T c.1142G>T (p.Arg381Met) | |
| 12 | g.102843646C= | CA2059446288 | PAH | c.1199G= (p.Arg400=) c.1184G= (p.Arg395=) n.958G= n.861G= c.303G= n.714G= c.1142G= (p.Arg381=) | |
| 12 | g.102843646C>G | CA229391 | PAH | c.1199G>C (p.Arg400Thr) c.1184G>C (p.Arg395Thr) n.958G>C n.861G>C c.303G>C n.714G>C c.1142G>C (p.Arg381Thr) | ClinVar dbSNP |
| 12 | g.102843646C>T | CA229389 | PAH | c.1199G>A (p.Arg400Lys) c.1184G>A (p.Arg395Lys) n.958G>A n.861G>A c.303G>A n.714G>A c.1142G>A (p.Arg381Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843646_102843647delinsCT | CA2059446289 | PAH | c.1198_1199delinsAG (p.Arg400=) c.1183_1184delinsAG (p.Arg395=) n.957_958delinsAG n.860_861delinsAG c.302_303delinsAG n.713_714delinsAG c.1141_1142delinsAG (p.Arg381=) | |
| 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.102843647T>A | CA386493125 | PAH | c.1198A>T (p.Arg400Trp) c.1183A>T (p.Arg395Trp) n.957A>T n.860A>T c.302A>T n.713A>T c.1141A>T (p.Arg381Trp) | |
| 12 | g.102843647T>C | CA386493126 | PAH | c.1198A>G (p.Arg400Gly) c.1183A>G (p.Arg395Gly) n.957A>G n.860A>G c.302A>G n.713A>G c.1141A>G (p.Arg381Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102843647T>G | CA229381 | PAH | c.1198A>C (p.Arg400=) c.1183A>C (p.Arg395=) n.957A>C n.860A>C c.302A>C n.713A>C c.1141A>C (p.Arg381=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843647T= | CA2059446300 | PAH | c.1198A= (p.Arg400=) c.1183A= (p.Arg395=) n.957A= n.860A= c.302A= n.713A= c.1141A= (p.Arg381=) | |
| 12 | g.102843648del | CA229383 | PAH | c.1198del (p.Arg400GlyfsTer?) c.1183del (p.Arg395GlyfsTer?) n.957del n.860del c.302del n.713del c.1141del (p.Arg381GlyfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843648T>A | CA229379 | PAH | c.1197A>T (p.Val399=) c.1182A>T (p.Val394=) n.956A>T n.859A>T c.301A>T n.712A>T c.1140A>T (p.Val380=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102843648T>C | CA481375568 | PAH | c.1197A>G (p.Val399=) c.1182A>G (p.Val394=) n.956A>G n.859A>G c.301A>G n.712A>G c.1140A>G (p.Val380=) | |
| 12 | g.102843648T>G | CA481375566 | PAH | c.1197A>C (p.Val399=) c.1182A>C (p.Val394=) n.956A>C n.859A>C c.301A>C n.712A>C c.1140A>C (p.Val380=) | |
| 12 | g.102843648T= | CA2059446312 | PAH | c.1197A= (p.Val399=) c.1182A= (p.Val394=) n.956A= n.859A= c.301A= n.712A= c.1140A= (p.Val380=) | |
| 12 | g.102843649A= | CA2059446318 | PAH | c.1196T= (p.Val399=) c.1181T= (p.Val394=) n.955T= n.858T= c.300T= n.711T= c.1139T= (p.Val380=) | |
| 12 | g.102843649A>C | CA386493128 | PAH | c.1196T>G (p.Val399Gly) c.1181T>G (p.Val394Gly) n.955T>G n.858T>G c.300T>G n.711T>G c.1139T>G (p.Val380Gly) | |
| 12 | g.102843649A>G | CA267634 | PAH | c.1196T>C (p.Val399Ala) c.1181T>C (p.Val394Ala) n.955T>C n.858T>C c.300T>C n.711T>C c.1139T>C (p.Val380Ala) | ClinVar dbSNP |
| 12 | g.102843649A>T | CA386493127 | PAH | c.1196T>A (p.Val399Glu) c.1181T>A (p.Val394Glu) n.955T>A n.858T>A c.300T>A n.711T>A c.1139T>A (p.Val380Glu) | |
| 12 | g.102843650C>A | CA386493129 | PAH | c.1195G>T (p.Val399Leu) c.1180G>T (p.Val394Leu) n.954G>T n.857G>T c.299G>T n.710G>T c.1138G>T (p.Val380Leu) | |
| 12 | g.102843650C>G | CA386493130 | PAH | c.1195G>C (p.Val399Leu) c.1180G>C (p.Val394Leu) n.954G>C n.857G>C c.299G>C n.710G>C c.1138G>C (p.Val380Leu) | |
| 12 | g.102843650C>T | CA386493131 | PAH | c.1195G>A (p.Val399Ile) c.1180G>A (p.Val394Ile) n.954G>A n.857G>A c.299G>A n.710G>A c.1138G>A (p.Val380Ile) | |
| 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) | ClinVar |
| 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=) |