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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| 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.102846895_102846951dup | CA16021001 | PAH | c.914_969+1dup c.899_954+1dup n.673_728+1dup n.576_631+1dup c.74-2519_74-2463dup n.429_484+1dup c.913-2519_913-2463dup (n.913-2519_913-2463dup) | |
| 12 | g.102846923_102846934delinsGGTGCACCCAGA | CA2059451363 | PAH | c.930_941delinsTCTGGGTGCACC (p.Ser310=) c.915_926delinsTCTGGGTGCACC (p.Ser305=) n.689_700delinsTCTGGGTGCACC n.592_603delinsTCTGGGTGCACC c.74-2503_74-2492delinsTCTGGGTGCACC n.445_456delinsTCTGGGTGCACC c.913-2503_913-2492delinsTCTGGGTGCACC (n.913-2503_913-2492delinsTCTGGGTGCACC) | |
| 12 | g.102846925_102846935del | CA229856 | PAH | c.930_940del (p.Leu311Ter) c.915_925del (p.Leu306Ter) n.689_699del n.592_602del c.74-2503_74-2493del n.445_455del c.913-2503_913-2493del (n.913-2503_913-2493del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102846926G>A | CA229861 | PAH | c.938C>T (p.Ala313Val) c.923C>T (p.Ala308Val) n.697C>T n.600C>T c.74-2495C>T n.453C>T c.913-2495C>T (n.913-2495C>T) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102846926G>C | CA386291669 | PAH | c.938C>G (p.Ala313Gly) c.923C>G (p.Ala308Gly) n.697C>G n.600C>G c.74-2495C>G n.453C>G c.913-2495C>G (n.913-2495C>G) | |
| 12 | g.102846926G= | CA2059451384 | PAH | c.938C= (p.Ala313=) c.923C= (p.Ala308=) n.697C= n.600C= c.74-2495C= n.453C= c.913-2495C= (n.913-2495C=) | |
| 12 | g.102846926G>T | CA386291666 | PAH | c.938C>A (p.Ala313Glu) c.923C>A (p.Ala308Glu) n.697C>A n.600C>A c.74-2495C>A n.453C>A c.913-2495C>A (n.913-2495C>A) | ClinVar dbSNP |
| 12 | g.102846927C>A | CA6748788 | PAH | c.937G>T (p.Ala313Ser) c.922G>T (p.Ala308Ser) n.696G>T n.599G>T c.74-2496G>T n.452G>T c.913-2496G>T (n.913-2496G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102846927C= | CA2059451388 | PAH | c.937G= (p.Ala313=) c.922G= (p.Ala308=) n.696G= n.599G= c.74-2496G= n.452G= c.913-2496G= (n.913-2496G=) | |
| 12 | g.102846927C>G | CA386291673 | PAH | c.937G>C (p.Ala313Pro) c.922G>C (p.Ala308Pro) n.696G>C n.599G>C c.74-2496G>C n.452G>C c.913-2496G>C (n.913-2496G>C) | |
| 12 | g.102846927C>T | CA229859 | PAH | c.937G>A (p.Ala313Thr) c.922G>A (p.Ala308Thr) n.696G>A n.599G>A c.74-2496G>A n.452G>A c.913-2496G>A (n.913-2496G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102846928A= | CA2059451395 | PAH | c.936T= (p.Gly312=) c.921T= (p.Gly307=) n.695T= n.598T= c.74-2497T= n.451T= c.913-2497T= (n.913-2497T=) | |
| 12 | g.102846928A>C | CA481330856 | PAH | c.936T>G (p.Gly312=) c.921T>G (p.Gly307=) n.695T>G n.598T>G c.74-2497T>G n.451T>G c.913-2497T>G (n.913-2497T>G) | |
| 12 | g.102846928A>G | CA6748789 | PAH | c.936T>C (p.Gly312=) c.921T>C (p.Gly307=) n.695T>C n.598T>C c.74-2497T>C n.451T>C c.913-2497T>C (n.913-2497T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102846928A>T | CA481330861 | PAH | c.936T>A (p.Gly312=) c.921T>A (p.Gly307=) n.695T>A n.598T>A c.74-2497T>A n.451T>A c.913-2497T>A (n.913-2497T>A) | ClinVar dbSNP |
| 12 | g.102846929C>A | CA16020902 | PAH | c.935G>T (p.Gly312Val) c.920G>T (p.Gly307Val) n.694G>T n.597G>T c.74-2498G>T n.450G>T c.913-2498G>T (n.913-2498G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102846929C= | CA2059451400 | PAH | c.935G= (p.Gly312=) c.920G= (p.Gly307=) n.694G= n.597G= c.74-2498G= n.450G= c.913-2498G= (n.913-2498G=) | |
| 12 | g.102846929C>G | CA386291680 | PAH | c.935G>C (p.Gly312Ala) c.920G>C (p.Gly307Ala) n.694G>C n.597G>C c.74-2498G>C n.450G>C c.913-2498G>C (n.913-2498G>C) | |
| 12 | g.102846929C>T | CA229857 | PAH | c.935G>A (p.Gly312Asp) c.920G>A (p.Gly307Asp) n.694G>A n.597G>A c.74-2498G>A n.450G>A c.913-2498G>A (n.913-2498G>A) | ClinVar dbSNP |
| 12 | g.102846931del | CA16020900 | PAH | c.935del (p.Gly312ValfsTer29) c.920del (p.Gly307ValfsTer29) n.694del n.597del c.74-2498del n.450del c.913-2498del (n.913-2498del) | ClinVar dbSNP |
| 12 | g.102846930C>A | CA386291684 | PAH | c.934G>T (p.Gly312Cys) c.919G>T (p.Gly307Cys) n.693G>T n.596G>T c.74-2499G>T n.449G>T c.913-2499G>T (n.913-2499G>T) | ClinVar dbSNP |
| 12 | g.102846930C= | CA2059451409 | PAH | c.934G= (p.Gly312=) c.919G= (p.Gly307=) n.693G= n.596G= c.74-2499G= n.449G= c.913-2499G= (n.913-2499G=) | |
| 12 | g.102846930C>G | CA16020901 | PAH | c.934G>C (p.Gly312Arg) c.919G>C (p.Gly307Arg) n.693G>C n.596G>C c.74-2499G>C n.449G>C c.913-2499G>C (n.913-2499G>C) | ClinVar dbSNP |
| 12 | g.102846930C>T | CA6748790 | PAH | c.934G>A (p.Gly312Ser) c.919G>A (p.Gly307Ser) n.693G>A n.596G>A c.74-2499G>A n.449G>A c.913-2499G>A (n.913-2499G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102846931C>A | CA6748791 | PAH | c.933G>T (p.Leu311=) c.918G>T (p.Leu306=) n.692G>T n.595G>T c.74-2500G>T n.448G>T c.913-2500G>T (n.913-2500G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102846931C= | CA2059451420 | PAH | c.933G= (p.Leu311=) c.918G= (p.Leu306=) n.692G= n.595G= c.74-2500G= n.448G= c.913-2500G= (n.913-2500G=) | |
| 12 | g.102846931C>G | CA481330884 | PAH | c.933G>C (p.Leu311=) c.918G>C (p.Leu306=) n.692G>C n.595G>C c.74-2500G>C n.448G>C c.913-2500G>C (n.913-2500G>C) | |
| 12 | g.102846931C>T | CA481330879 | PAH | c.933G>A (p.Leu311=) c.918G>A (p.Leu306=) n.692G>A n.595G>A c.74-2500G>A n.448G>A c.913-2500G>A (n.913-2500G>A) | |
| 12 | g.102846931_102846933delinsCAG | CA2059451418 | PAH | c.931_933delinsCTG (p.Leu311=) c.916_918delinsCTG (p.Leu306=) n.690_692delinsCTG n.593_595delinsCTG c.74-2502_74-2500delinsCTG n.446_448delinsCTG c.913-2502_913-2500delinsCTG (n.913-2502_913-2500delinsCTG) | |
| 12 | g.102846932A= | CA2059451424 | PAH | c.932T= (p.Leu311=) c.917T= (p.Leu306=) n.691T= n.594T= c.74-2501T= n.447T= c.913-2501T= (n.913-2501T=) | |
| 12 | g.102846932A>C | CA386291691 | PAH | c.932T>G (p.Leu311Arg) c.917T>G (p.Leu306Arg) n.691T>G n.594T>G c.74-2501T>G n.447T>G c.913-2501T>G (n.913-2501T>G) | |
| 12 | g.102846932A>G | CA251524 | PAH | c.932T>C (p.Leu311Pro) c.917T>C (p.Leu306Pro) n.691T>C n.594T>C c.74-2501T>C n.447T>C c.913-2501T>C (n.913-2501T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102846932A>T | CA386291696 | PAH | c.932T>A (p.Leu311Gln) c.917T>A (p.Leu306Gln) n.691T>A n.594T>A c.74-2501T>A n.447T>A c.913-2501T>A (n.913-2501T>A) | |
| 12 | g.102846932_102846937del | CA16020899 | PAH | c.927_932del (p.Ser310_Leu311del) c.912_917del (p.Ser305_Leu306del) n.686_691del n.589_594del c.74-2506_74-2501del n.442_447del c.913-2506_913-2501del (n.913-2506_913-2501del) | |
| 12 | g.102846936_102846937del | CA267689 | PAH | c.931_932del (p.Leu311GlyfsTer4) c.916_917del (p.Leu306GlyfsTer4) n.690_691del n.593_594del c.74-2502_74-2501del n.446_447del c.913-2502_913-2501del (n.913-2502_913-2501del) | ClinVar dbSNP |
| 12 | g.102846933G>A | CA481330897 | PAH | c.931C>T (p.Leu311=) c.916C>T (p.Leu306=) n.690C>T n.593C>T c.74-2502C>T n.446C>T c.913-2502C>T (n.913-2502C>T) | |
| 12 | g.102846933G>C | CA386291701 | PAH | c.931C>G (p.Leu311Val) c.916C>G (p.Leu306Val) n.690C>G n.593C>G c.74-2502C>G n.446C>G c.913-2502C>G (n.913-2502C>G) | |
| 12 | g.102846933G>T | CA386291699 | PAH | c.931C>A (p.Leu311Met) c.916C>A (p.Leu306Met) n.690C>A n.593C>A c.74-2502C>A n.446C>A c.913-2502C>A (n.913-2502C>A) | |
| 12 | g.102846934A= | CA2059451434 | PAH | c.930T= (p.Ser310=) c.915T= (p.Ser305=) n.689T= n.592T= c.74-2503T= n.445T= c.913-2503T= (n.913-2503T=) | |
| 12 | g.102846934A>C | CA481330904 | PAH | c.930T>G (p.Ser310=) c.915T>G (p.Ser305=) n.689T>G n.592T>G c.74-2503T>G n.445T>G c.913-2503T>G (n.913-2503T>G) | |
| 12 | g.102846934A>G | CA481330906 | PAH | c.930T>C (p.Ser310=) c.915T>C (p.Ser305=) n.689T>C n.592T>C c.74-2503T>C n.445T>C c.913-2503T>C (n.913-2503T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102846934A>T | CA481330909 | PAH | c.930T>A (p.Ser310=) c.915T>A (p.Ser305=) n.689T>A n.592T>A c.74-2503T>A n.445T>A c.913-2503T>A (n.913-2503T>A) | |
| 12 | g.102846935G>A | CA229855 | PAH | c.929C>T (p.Ser310Phe) c.914C>T (p.Ser305Phe) n.688C>T n.591C>T c.74-2504C>T n.444C>T c.913-2504C>T (n.913-2504C>T) | ClinVar dbSNP |
| 12 | g.102846935G>C | CA386291704 | PAH | c.929C>G (p.Ser310Cys) c.914C>G (p.Ser305Cys) n.688C>G n.591C>G c.74-2504C>G n.444C>G c.913-2504C>G (n.913-2504C>G) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102846935G= | CA2059451437 | PAH | c.929C= (p.Ser310=) c.914C= (p.Ser305=) n.688C= n.591C= c.74-2504C= n.444C= c.913-2504C= (n.913-2504C=) | |
| 12 | g.102846935G>T | CA229854 | PAH | c.929C>A (p.Ser310Tyr) c.914C>A (p.Ser305Tyr) n.688C>A n.591C>A c.74-2504C>A n.444C>A c.913-2504C>A (n.913-2504C>A) | ClinVar dbSNP |
| 12 | g.102846936A>C | CA386291708 | PAH | c.928T>G (p.Ser310Ala) c.913T>G (p.Ser305Ala) n.687T>G n.590T>G c.74-2505T>G n.443T>G c.913-2505T>G (n.913-2505T>G) | |
| 12 | g.102846936A>G | CA386291710 | PAH | c.928T>C (p.Ser310Pro) c.913T>C (p.Ser305Pro) n.687T>C n.590T>C c.74-2505T>C n.443T>C c.913-2505T>C (n.913-2505T>C) | |
| 12 | g.102846936A>T | CA386291713 | PAH | c.928T>A (p.Ser310Thr) c.913T>A (p.Ser305Thr) n.687T>A n.590T>A c.74-2505T>A n.443T>A c.913-2505T>A (n.913-2505T>A) |