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.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.102843774_102843775insAGGGGAGAAGCTTTGGCTTCTCTGATAAG | CA915946685 | PAH | c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367SerfsTer?) c.1083_1084insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu362SerfsTer?) n.857_858insTCTTATCAGAGAAGCCAAAGCTTCTCCCC n.760_761insTCTTATCAGAGAAGCCAAAGCTTCTCCCC c.202_203insTCTTATCAGAGAAGCCAAAGCTTCTCCCC n.613_614insTCTTATCAGAGAAGCCAAAGCTTCTCCCC c.1041_1042insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu348SerfsTer?) | ClinVar dbSNP |
| 12 | g.102843761G>A | CA6748745 | PAH | c.1084C>T (p.Pro362Ser) c.1069C>T (p.Pro357Ser) n.843C>T n.746C>T c.188C>T n.599C>T c.1027C>T (p.Pro343Ser) | ClinVar dbSNP ExAC gnomAD v2 |
| 12 | g.102843761G>C | CA386493333 | PAH | c.1084C>G (p.Pro362Ala) c.1069C>G (p.Pro357Ala) n.843C>G n.746C>G c.188C>G n.599C>G c.1027C>G (p.Pro343Ala) | |
| 12 | g.102843761G= | CA2059446815 | PAH | c.1084C= (p.Pro362=) c.1069C= (p.Pro357=) n.843C= n.746C= c.188C= n.599C= c.1027C= (p.Pro343=) | |
| 12 | g.102843761G>T | CA229332 | PAH | c.1084C>A (p.Pro362Thr) c.1069C>A (p.Pro357Thr) n.843C>A n.746C>A c.188C>A n.599C>A c.1027C>A (p.Pro343Thr) | ClinVar dbSNP |
| 12 | g.102843762C>A | CA386493334 | PAH | c.1083G>T (p.Lys361Asn) c.1068G>T (p.Lys356Asn) n.842G>T n.745G>T c.187G>T n.598G>T c.1026G>T (p.Lys342Asn) | |
| 12 | g.102843762C= | CA2059446822 | PAH | c.1083G= (p.Lys361=) c.1068G= (p.Lys356=) n.842G= n.745G= c.187G= n.598G= c.1026G= (p.Lys342=) | |
| 12 | g.102843762C>G | CA386493335 | PAH | c.1083G>C (p.Lys361Asn) c.1068G>C (p.Lys356Asn) n.842G>C n.745G>C c.187G>C n.598G>C c.1026G>C (p.Lys342Asn) | |
| 12 | g.102843762C>T | CA481375683 | PAH | c.1083G>A (p.Lys361=) c.1068G>A (p.Lys356=) n.842G>A n.745G>A c.187G>A n.598G>A c.1026G>A (p.Lys342=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843763T>A | CA386493336 | PAH | c.1082A>T (p.Lys361Met) c.1067A>T (p.Lys356Met) n.841A>T n.744A>T c.186A>T n.597A>T c.1025A>T (p.Lys342Met) | |
| 12 | g.102843763T>C | CA386493338 | PAH | c.1082A>G (p.Lys361Arg) c.1067A>G (p.Lys356Arg) n.841A>G n.744A>G c.186A>G n.597A>G c.1025A>G (p.Lys342Arg) | |
| 12 | g.102843763T>G | CA386493337 | PAH | c.1082A>C (p.Lys361Thr) c.1067A>C (p.Lys356Thr) n.841A>C n.744A>C c.186A>C n.597A>C c.1025A>C (p.Lys342Thr) | |
| 12 | g.102843764T>A | CA6748746 | PAH | c.1081A>T (p.Lys361Ter) c.1066A>T (p.Lys356Ter) n.840A>T n.743A>T c.185A>T n.596A>T c.1024A>T (p.Lys342Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843764T>C | CA386493339 | PAH | c.1081A>G (p.Lys361Glu) c.1066A>G (p.Lys356Glu) n.840A>G n.743A>G c.185A>G n.596A>G c.1024A>G (p.Lys342Glu) | |
| 12 | g.102843764T>G | CA16020936 | PAH | c.1081A>C (p.Lys361Gln) c.1066A>C (p.Lys356Gln) n.840A>C n.743A>C c.185A>C n.596A>C c.1024A>C (p.Lys342Gln) | ClinVar dbSNP |
| 12 | g.102843764T= | CA2059446829 | PAH | c.1081A= (p.Lys361=) c.1066A= (p.Lys356=) n.840A= n.743A= c.185A= n.596A= c.1024A= (p.Lys342=) | |
| 12 | g.102843765C>A | CA386493340 | PAH | c.1080G>T (p.Glu360Asp) c.1065G>T (p.Glu355Asp) n.839G>T n.742G>T c.184G>T n.595G>T c.1023G>T (p.Glu341Asp) | |
| 12 | g.102843765C= | CA2059446836 | PAH | c.1080G= (p.Glu360=) c.1065G= (p.Glu355=) n.839G= n.742G= c.184G= n.595G= c.1023G= (p.Glu341=) | |
| 12 | g.102843765C>G | CA386493341 | PAH | c.1080G>C (p.Glu360Asp) c.1065G>C (p.Glu355Asp) n.839G>C n.742G>C c.184G>C n.595G>C c.1023G>C (p.Glu341Asp) | |
| 12 | g.102843765C>T | CA481375684 | PAH | c.1080G>A (p.Glu360=) c.1065G>A (p.Glu355=) n.839G>A n.742G>A c.184G>A n.595G>A c.1023G>A (p.Glu341=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102843766T>A | CA386493342 | PAH | c.1079A>T (p.Glu360Val) c.1064A>T (p.Glu355Val) n.838A>T n.741A>T c.183A>T n.594A>T c.1022A>T (p.Glu341Val) | |
| 12 | g.102843766T>C | CA386493344 | PAH | c.1079A>G (p.Glu360Gly) c.1064A>G (p.Glu355Gly) n.838A>G n.741A>G c.183A>G n.594A>G c.1022A>G (p.Glu341Gly) | |
| 12 | g.102843766T>G | CA386493343 | PAH | c.1079A>C (p.Glu360Ala) c.1064A>C (p.Glu355Ala) n.838A>C n.741A>C c.183A>C n.594A>C c.1022A>C (p.Glu341Ala) | |
| 12 | g.102843767C>A | CA16020935 | PAH | c.1078G>T (p.Glu360Ter) c.1063G>T (p.Glu355Ter) n.837G>T n.740G>T c.182G>T n.593G>T c.1021G>T (p.Glu341Ter) | ClinVar dbSNP |
| 12 | g.102843767C>G | CA386493346 | PAH | c.1078G>C (p.Glu360Gln) c.1063G>C (p.Glu355Gln) n.837G>C n.740G>C c.182G>C n.593G>C c.1021G>C (p.Glu341Gln) | |
| 12 | g.102843767C>T | CA386493345 | PAH | c.1078G>A (p.Glu360Lys) c.1063G>A (p.Glu355Lys) n.837G>A n.740G>A c.182G>A n.593G>A c.1021G>A (p.Glu341Lys) | COSMIC |
| 12 | g.102843768T>A | CA481375685 | PAH | c.1077A>T (p.Ser359=) c.1062A>T (p.Ser354=) n.836A>T n.739A>T c.181A>T n.592A>T c.1020A>T (p.Ser340=) | dbSNP |
| 12 | g.102843768T>C | CA481375686 | PAH | c.1077A>G (p.Ser359=) c.1062A>G (p.Ser354=) n.836A>G n.739A>G c.181A>G n.592A>G c.1020A>G (p.Ser340=) | |
| 12 | g.102843768T>G | CA481375687 | PAH | c.1077A>C (p.Ser359=) c.1062A>C (p.Ser354=) n.836A>C n.739A>C c.181A>C n.592A>C c.1020A>C (p.Ser340=) | |
| 12 | g.102843769G>A | CA16020934 | PAH | c.1076C>T (p.Ser359Leu) c.1061C>T (p.Ser354Leu) n.835C>T n.738C>T c.180C>T n.591C>T c.1019C>T (p.Ser340Leu) | ClinVar dbSNP |
| 12 | g.102843769G>C | CA229330 | PAH | c.1076C>G (p.Ser359Ter) c.1061C>G (p.Ser354Ter) n.835C>G n.738C>G c.180C>G n.591C>G c.1019C>G (p.Ser340Ter) | ClinVar dbSNP |
| 12 | g.102843769G= | CA2059446842 | PAH | c.1076C= (p.Ser359=) c.1061C= (p.Ser354=) n.835C= n.738C= c.180C= n.591C= c.1019C= (p.Ser340=) | |
| 12 | g.102843769G>T | CA386493347 | PAH | c.1076C>A (p.Ser359Ter) c.1061C>A (p.Ser354Ter) n.835C>A n.738C>A c.180C>A n.591C>A c.1019C>A (p.Ser340Ter) | |
| 12 | g.102843770A>C | CA386493348 | PAH | c.1075T>G (p.Ser359Ala) c.1060T>G (p.Ser354Ala) n.834T>G n.737T>G c.179T>G n.590T>G c.1018T>G (p.Ser340Ala) | |
| 12 | g.102843770A>G | CA386493349 | PAH | c.1075T>C (p.Ser359Pro) c.1060T>C (p.Ser354Pro) n.834T>C n.737T>C c.179T>C n.590T>C c.1018T>C (p.Ser340Pro) | |
| 12 | g.102843770A>T | CA386493350 | PAH | c.1075T>A (p.Ser359Thr) c.1060T>A (p.Ser354Thr) n.834T>A n.737T>A c.179T>A n.590T>A c.1018T>A (p.Ser340Thr) | |
| 12 | g.102843771T>A | CA6748747 | PAH | c.1074A>T (p.Leu358Phe) c.1059A>T (p.Leu353Phe) n.833A>T n.736A>T c.178A>T n.589A>T c.1017A>T (p.Leu339Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102843771T>C | CA481375688 | PAH | c.1074A>G (p.Leu358=) c.1059A>G (p.Leu353=) n.833A>G n.736A>G c.178A>G n.589A>G c.1017A>G (p.Leu339=) | dbSNP |
| 12 | g.102843771T>G | CA386493351 | PAH | c.1074A>C (p.Leu358Phe) c.1059A>C (p.Leu353Phe) n.833A>C n.736A>C c.178A>C n.589A>C c.1017A>C (p.Leu339Phe) | |
| 12 | g.102843771T= | CA2059446851 | PAH | c.1074A= (p.Leu358=) c.1059A= (p.Leu353=) n.833A= n.736A= c.178A= n.589A= c.1017A= (p.Leu339=) | |
| 12 | g.102843772A>C | CA386493352 | PAH | c.1073T>G (p.Leu358Ter) c.1058T>G (p.Leu353Ter) n.832T>G n.735T>G c.177T>G n.588T>G c.1016T>G (p.Leu339Ter) | |
| 12 | g.102843772A>G | CA386493353 | PAH | c.1073T>C (p.Leu358Ser) c.1058T>C (p.Leu353Ser) n.832T>C n.735T>C c.177T>C n.588T>C c.1016T>C (p.Leu339Ser) | |
| 12 | g.102843772A>T | CA386493354 | PAH | c.1073T>A (p.Leu358Ter) c.1058T>A (p.Leu353Ter) n.832T>A n.735T>A c.177T>A n.588T>A c.1016T>A (p.Leu339Ter) | |
| 12 | g.102843773A>C | CA386493355 | PAH | c.1072T>G (p.Leu358Val) c.1057T>G (p.Leu353Val) n.831T>G n.734T>G c.176T>G n.587T>G c.1015T>G (p.Leu339Val) | |
| 12 | g.102843773A>G | CA481375689 | PAH | c.1072T>C (p.Leu358=) c.1057T>C (p.Leu353=) n.831T>C n.734T>C c.176T>C n.587T>C c.1015T>C (p.Leu339=) | |
| 12 | g.102843773A>T | CA386493356 | PAH | c.1072T>A (p.Leu358Ile) c.1057T>A (p.Leu353Ile) n.831T>A n.734T>A c.176T>A n.587T>A c.1015T>A (p.Leu339Ile) | |
| 12 | g.102843774G>A | CA6748748 | PAH | c.1071C>T (p.Cys357=) c.1056C>T (p.Cys352=) n.830C>T n.733C>T c.175C>T n.586C>T c.1014C>T (p.Cys338=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102843774G>C | CA386493357 | PAH | c.1071C>G (p.Cys357Trp) c.1056C>G (p.Cys352Trp) n.830C>G n.733C>G c.175C>G n.586C>G c.1014C>G (p.Cys338Trp) | |
| 12 | g.102843774G= | CA2059446858 | PAH | c.1071C= (p.Cys357=) c.1056C= (p.Cys352=) n.830C= n.733C= c.175C= n.586C= c.1014C= (p.Cys338=) |