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.102851253_102856067del | CA916084430 | PAH | c.510-735_912+434del c.495-735_897+434del | ClinVar |
| 12 | g.102851710_102851726delinsGATCTGAAAACAAGGGC | CA2059444484 | PAH | c.873_889delinsGCCCTTGTTTTCAGATC (p.Val291=) c.858_874delinsGCCCTTGTTTTCAGATC (p.Val286=) n.632_648delinsGCCCTTGTTTTCAGATC n.535_551delinsGCCCTTGTTTTCAGATC c.34_50delinsGCCCTTGTTTTCAGATC | |
| 12 | g.102851712_102851727del | CA682803735 | PAH | c.873_888del (p.Pro292AlafsTer?) c.858_873del (p.Pro287AlafsTer?) n.632_647del n.535_550del c.34_49del c.873_888del (p.Pro292AlafsTer25) | dbSNP |
| 12 | g.102851715G>A | CA386294338 | PAH | c.884C>T (p.Ser295Leu) c.869C>T (p.Ser290Leu) n.643C>T n.546C>T c.45C>T | |
| 12 | g.102851715G>C | CA229834 | PAH | c.884C>G (p.Ser295Ter) c.869C>G (p.Ser290Ter) n.643C>G n.546C>G c.45C>G | ClinVar dbSNP |
| 12 | g.102851715G= | CA2059444510 | PAH | c.884C= (p.Ser295=) c.869C= (p.Ser290=) n.643C= n.546C= c.45C= | |
| 12 | g.102851715G>T | CA386294339 | PAH | c.884C>A (p.Ser295Ter) c.869C>A (p.Ser290Ter) n.643C>A n.546C>A c.45C>A | |
| 12 | g.102851716A>C | CA386294344 | PAH | c.883T>G (p.Ser295Ala) c.868T>G (p.Ser290Ala) n.642T>G n.545T>G c.44T>G | |
| 12 | g.102851716A>G | CA386294347 | PAH | c.883T>C (p.Ser295Pro) c.868T>C (p.Ser290Pro) n.642T>C n.545T>C c.44T>C | |
| 12 | g.102851716A>T | CA386294349 | PAH | c.883T>A (p.Ser295Thr) c.868T>A (p.Ser290Thr) n.642T>A n.545T>A c.44T>A | |
| 12 | g.102851717A>C | CA386294355 | PAH | c.882T>G (p.Phe294Leu) c.867T>G (p.Phe289Leu) n.641T>G n.544T>G c.43T>G | |
| 12 | g.102851717A>G | CA481331300 | PAH | c.882T>C (p.Phe294=) c.867T>C (p.Phe289=) n.641T>C n.544T>C c.43T>C | |
| 12 | g.102851717A>T | CA386294357 | PAH | c.882T>A (p.Phe294Leu) c.867T>A (p.Phe289Leu) n.641T>A n.544T>A c.43T>A | |
| 12 | g.102851718A>C | CA386294360 | PAH | c.881T>G (p.Phe294Cys) c.866T>G (p.Phe289Cys) n.640T>G n.543T>G c.42T>G | |
| 12 | g.102851718A>G | CA386294361 | PAH | c.881T>C (p.Phe294Ser) c.866T>C (p.Phe289Ser) n.640T>C n.543T>C c.42T>C | |
| 12 | g.102851718A>T | CA386294364 | PAH | c.881T>A (p.Phe294Tyr) c.866T>A (p.Phe289Tyr) n.640T>A n.543T>A c.42T>A | |
| 12 | g.102851718_102851726delinsAACAAGGGC | CA2059444519 | PAH | c.873_881delinsGCCCTTGTT (p.Val291=) c.858_866delinsGCCCTTGTT (p.Val286=) n.632_640delinsGCCCTTGTT n.535_543delinsGCCCTTGTT c.34_42delinsGCCCTTGTT | |
| 12 | g.102851719A= | CA2059444524 | PAH | c.880T= (p.Phe294=) c.865T= (p.Phe289=) n.639T= n.542T= c.41T= | |
| 12 | g.102851719A>C | CA386294367 | PAH | c.880T>G (p.Phe294Val) c.865T>G (p.Phe289Val) n.639T>G n.542T>G c.41T>G | |
| 12 | g.102851719A>G | CA386294369 | PAH | c.880T>C (p.Phe294Leu) c.865T>C (p.Phe289Leu) n.639T>C n.542T>C c.41T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102851719A>T | CA386294372 | PAH | c.880T>A (p.Phe294Ile) c.865T>A (p.Phe289Ile) n.639T>A n.542T>A c.41T>A | ClinVar dbSNP |
| 12 | g.102851722_102851729del | CA2059444530 | PAH | c.873_880del (p.Pro292PhefsTer21) c.858_865del (p.Pro287PhefsTer21) n.632_639del n.535_542del c.34_41del c.873_880del (p.Pro292PhefsTer?) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102851720C>A | CA386294375 | PAH | c.879G>T (p.Leu293Phe) c.864G>T (p.Leu288Phe) n.638G>T n.541G>T c.40G>T | |
| 12 | g.102851720C= | CA2059444534 | PAH | c.879G= (p.Leu293=) c.864G= (p.Leu288=) n.638G= n.541G= c.40G= | |
| 12 | g.102851720C>G | CA386294377 | PAH | c.879G>C (p.Leu293Phe) c.864G>C (p.Leu288Phe) n.638G>C n.541G>C c.40G>C | dbSNP |
| 12 | g.102851720C>T | CA481331301 | PAH | c.879G>A (p.Leu293=) c.864G>A (p.Leu288=) n.638G>A n.541G>A c.40G>A | |
| 12 | g.102851721A>C | CA386294381 | PAH | c.878T>G (p.Leu293Trp) c.863T>G (p.Leu288Trp) n.637T>G n.540T>G c.39T>G | |
| 12 | g.102851721A>G | CA16020884 | PAH | c.878T>C (p.Leu293Ser) c.863T>C (p.Leu288Ser) n.637T>C n.540T>C c.39T>C | |
| 12 | g.102851721A>T | CA386294378 | PAH | c.878T>A (p.Leu293Ter) c.863T>A (p.Leu288Ter) n.637T>A n.540T>A c.39T>A | |
| 12 | g.102851722del | CA2580085687 | PAH | c.878del (p.Leu293CysfsTer?) c.863del (p.Leu288CysfsTer?) n.637del n.540del c.39del c.878del (p.Leu293CysfsTer29) | ClinVar |
| 12 | g.102851722A>C | CA386294383 | PAH | c.877T>G (p.Leu293Val) c.862T>G (p.Leu288Val) n.636T>G n.539T>G c.38T>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102851722A>G | CA481331303 | PAH | c.877T>C (p.Leu293=) c.862T>C (p.Leu288=) n.636T>C n.539T>C c.38T>C | |
| 12 | g.102851722A>T | CA16020883 | PAH | c.877T>A (p.Leu293Met) c.862T>A (p.Leu288Met) n.636T>A n.539T>A c.38T>A | |
| 12 | g.102851723G>A | CA481331304 | PAH | c.876C>T (p.Pro292=) c.861C>T (p.Pro287=) n.635C>T n.538C>T c.37C>T | |
| 12 | g.102851723G>C | CA481331305 | PAH | c.876C>G (p.Pro292=) c.861C>G (p.Pro287=) n.635C>G n.538C>G c.37C>G | |
| 12 | g.102851723G>T | CA481331306 | PAH | c.876C>A (p.Pro292=) c.861C>A (p.Pro287=) n.635C>A n.538C>A c.37C>A | ClinVar |
| 12 | g.102851724G>A | CA16020882 | PAH | c.875C>T (p.Pro292Leu) c.860C>T (p.Pro287Leu) n.634C>T n.537C>T c.36C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102851724G>C | CA386294387 | PAH | c.875C>G (p.Pro292Arg) c.860C>G (p.Pro287Arg) n.634C>G n.537C>G c.36C>G | |
| 12 | g.102851724G= | CA2059444540 | PAH | c.875C= (p.Pro292=) c.860C= (p.Pro287=) n.634C= n.537C= c.36C= | |
| 12 | g.102851724G>T | CA386294389 | PAH | c.875C>A (p.Pro292His) c.860C>A (p.Pro287His) n.634C>A n.537C>A c.36C>A | |
| 12 | g.102851725G>A | CA16020881 | PAH | c.874C>T (p.Pro292Ser) c.859C>T (p.Pro287Ser) n.633C>T n.536C>T c.35C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102851725G>C | CA386294392 | PAH | c.874C>G (p.Pro292Ala) c.859C>G (p.Pro287Ala) n.633C>G n.536C>G c.35C>G | |
| 12 | g.102851725G= | CA2059444544 | PAH | c.874C= (p.Pro292=) c.859C= (p.Pro287=) n.633C= n.536C= c.35C= | |
| 12 | g.102851725G>T | CA386294394 | PAH | c.874C>A (p.Pro292Thr) c.859C>A (p.Pro287Thr) n.633C>A n.536C>A c.35C>A | |
| 12 | g.102851726C>A | CA481331307 | PAH | c.873G>T (p.Val291=) c.858G>T (p.Val286=) n.632G>T n.535G>T c.34G>T | |
| 12 | g.102851726C>G | CA481331309 | PAH | c.873G>C (p.Val291=) c.858G>C (p.Val286=) n.632G>C n.535G>C c.34G>C | |
| 12 | g.102851726C>T | CA481331308 | PAH | c.873G>A (p.Val291=) c.858G>A (p.Val286=) n.632G>A n.535G>A c.34G>A | |
| 12 | g.102851727A>C | CA386294395 | PAH | c.872T>G (p.Val291Gly) c.857T>G (p.Val286Gly) n.631T>G n.534T>G c.33T>G | |
| 12 | g.102851727A>G | CA386294397 | PAH | c.872T>C (p.Val291Ala) c.857T>C (p.Val286Ala) n.631T>C n.534T>C c.33T>C | |
| 12 | g.102851727A>T | CA386294399 | PAH | c.872T>A (p.Val291Glu) c.857T>A (p.Val286Glu) n.631T>A n.534T>A c.33T>A |