WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149898408_149898409delinsTA | CA1590705185 | PDE6A | c.1361_1362delinsTA (p.Val454=) n.1383+966_1383+967delinsTA c.1118_1119delinsTA (p.Val373=) c.815_816delinsTA (p.Val272=) c.476_477delinsTA (p.Val159=) c.314_315delinsTA (p.Val105=) c.284_285delinsTA (p.Val95=) | |
| 5 | g.149898408_149898411delinsGG | CA2695205577 | PDE6A | c.1359_1362delinsCC (p.Val454GlnfsTer7) n.1383+964_1383+967delinsCC c.1116_1119delinsCC (p.Val373GlnfsTer7) c.813_816delinsCC (p.Val272GlnfsTer7) c.474_477delinsCC (p.Val159GlnfsTer7) c.312_315delinsCC (p.Val105GlnfsTer7) c.282_285delinsCC (p.Val95GlnfsTer7) | |
| 5 | g.149898408_149898411delinsTACT | CA1590705187 | PDE6A | c.1359_1362delinsAGTA (p.Ile453=) n.1383+964_1383+967delinsAGTA c.1116_1119delinsAGTA (p.Ile372=) c.813_816delinsAGTA (p.Ile271=) c.474_477delinsAGTA (p.Ile158=) c.312_315delinsAGTA (p.Ile104=) c.282_285delinsAGTA (p.Ile94=) | |
| 5 | g.149898409del | CA16621828 | PDE6A | c.1361del (p.Val454GlufsTer5) n.1383+966del c.1118del (p.Val373GlufsTer5) c.815del (p.Val272GlufsTer5) c.476del (p.Val159GlufsTer5) c.314del (p.Val105GlufsTer5) c.284del (p.Val95GlufsTer5) | ClinVar dbSNP |
| 5 | g.149898409A>C | CA361696140 | PDE6A | c.1361T>G (p.Val454Gly) n.1383+966T>G c.1118T>G (p.Val373Gly) c.815T>G (p.Val272Gly) c.476T>G (p.Val159Gly) c.314T>G (p.Val105Gly) c.284T>G (p.Val95Gly) | |
| 5 | g.149898409A>G | CA361696141 | PDE6A | c.1361T>C (p.Val454Ala) n.1383+966T>C c.1118T>C (p.Val373Ala) c.815T>C (p.Val272Ala) c.476T>C (p.Val159Ala) c.314T>C (p.Val105Ala) c.284T>C (p.Val95Ala) | |
| 5 | g.149898409A>T | CA361696139 | PDE6A | c.1361T>A (p.Val454Glu) n.1383+966T>A c.1118T>A (p.Val373Glu) c.815T>A (p.Val272Glu) c.476T>A (p.Val159Glu) c.314T>A (p.Val105Glu) c.284T>A (p.Val95Glu) | |
| 5 | g.149898409_149898411delinsGG | CA1139659154 | PDE6A | c.1359_1361delinsCC (p.Val454GlnfsTer5) n.1383+964_1383+966delinsCC c.1116_1118delinsCC (p.Val373GlnfsTer5) c.813_815delinsCC (p.Val272GlnfsTer5) c.474_476delinsCC (p.Val159GlnfsTer5) c.312_314delinsCC (p.Val105GlnfsTer5) c.282_284delinsCC (p.Val95GlnfsTer5) | ClinVar dbSNP |
| 5 | g.149898410C>A | CA361696142 | PDE6A | c.1360G>T (p.Val454Leu) n.1383+965G>T c.1117G>T (p.Val373Leu) c.814G>T (p.Val272Leu) c.475G>T (p.Val159Leu) c.313G>T (p.Val105Leu) c.283G>T (p.Val95Leu) | |
| 5 | g.149898410C= | CA1590705197 | PDE6A | c.1360G= (p.Val454=) n.1383+965G= c.1117G= (p.Val373=) c.814G= (p.Val272=) c.475G= (p.Val159=) c.313G= (p.Val105=) c.283G= (p.Val95=) | |
| 5 | g.149898410C>G | CA361696143 | PDE6A | c.1360G>C (p.Val454Leu) n.1383+965G>C c.1117G>C (p.Val373Leu) c.814G>C (p.Val272Leu) c.475G>C (p.Val159Leu) c.313G>C (p.Val105Leu) c.283G>C (p.Val95Leu) | gnomAD v4 |
| 5 | g.149898410C>T | CA361696144 | PDE6A | c.1360G>A (p.Val454Ile) n.1383+965G>A c.1117G>A (p.Val373Ile) c.814G>A (p.Val272Ile) c.475G>A (p.Val159Ile) c.313G>A (p.Val105Ile) c.283G>A (p.Val95Ile) | gnomAD v4 |
| 5 | g.149898410_149898412delinsCTA | CA1590705199 | PDE6A | c.1358_1360delinsTAG (p.Ile453=) n.1383+963_1383+965delinsTAG c.1115_1117delinsTAG (p.Ile372=) c.812_814delinsTAG (p.Ile271=) c.473_475delinsTAG (p.Ile158=) c.311_313delinsTAG (p.Ile104=) c.281_283delinsTAG (p.Ile94=) | |
| 5 | g.149898411T>A | CA447141522 | PDE6A | c.1359A>T (p.Ile453=) n.1383+964A>T c.1116A>T (p.Ile372=) c.813A>T (p.Ile271=) c.474A>T (p.Ile158=) c.312A>T (p.Ile104=) c.282A>T (p.Ile94=) | |
| 5 | g.149898411T>C | CA361696145 | PDE6A | c.1359A>G (p.Ile453Met) n.1383+964A>G c.1116A>G (p.Ile372Met) c.813A>G (p.Ile271Met) c.474A>G (p.Ile158Met) c.312A>G (p.Ile104Met) c.282A>G (p.Ile94Met) | |
| 5 | g.149898411T>G | CA447141523 | PDE6A | c.1359A>C (p.Ile453=) n.1383+964A>C c.1116A>C (p.Ile372=) c.813A>C (p.Ile271=) c.474A>C (p.Ile158=) c.312A>C (p.Ile104=) c.282A>C (p.Ile94=) | |
| 5 | g.149898411dup | CA805546412 | PDE6A | c.1359dup (p.Val454SerfsTer8) n.1383+964dup c.1116dup (p.Val373SerfsTer8) c.813dup (p.Val272SerfsTer8) c.474dup (p.Val159SerfsTer8) c.312dup (p.Val105SerfsTer8) c.282dup (p.Val95SerfsTer8) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149898412_149898413del | CA1139659155 | PDE6A | c.1358_1359del (p.Ile453SerfsTer8) n.1383+963_1383+964del c.1115_1116del (p.Ile372SerfsTer8) c.812_813del (p.Ile271SerfsTer8) c.473_474del (p.Ile158SerfsTer8) c.311_312del (p.Ile104SerfsTer8) c.281_282del (p.Ile94SerfsTer8) | ClinVar dbSNP |
| 5 | g.149898412A>C | CA361696146 | PDE6A | c.1358T>G (p.Ile453Arg) n.1383+963T>G c.1115T>G (p.Ile372Arg) c.812T>G (p.Ile271Arg) c.473T>G (p.Ile158Arg) c.311T>G (p.Ile104Arg) c.281T>G (p.Ile94Arg) | |
| 5 | g.149898412A>G | CA361696147 | PDE6A | c.1358T>C (p.Ile453Thr) n.1383+963T>C c.1115T>C (p.Ile372Thr) c.812T>C (p.Ile271Thr) c.473T>C (p.Ile158Thr) c.311T>C (p.Ile104Thr) c.281T>C (p.Ile94Thr) | gnomAD v4 |
| 5 | g.149898412A>T | CA361696148 | PDE6A | c.1358T>A (p.Ile453Lys) n.1383+963T>A c.1115T>A (p.Ile372Lys) c.812T>A (p.Ile271Lys) c.473T>A (p.Ile158Lys) c.311T>A (p.Ile104Lys) c.281T>A (p.Ile94Lys) | |
| 5 | g.149898413T>A | CA361696149 | PDE6A | c.1357A>T (p.Ile453Leu) n.1383+962A>T c.1114A>T (p.Ile372Leu) c.811A>T (p.Ile271Leu) c.472A>T (p.Ile158Leu) c.310A>T (p.Ile104Leu) c.280A>T (p.Ile94Leu) | |
| 5 | g.149898413T>C | CA361696150 | PDE6A | c.1357A>G (p.Ile453Val) n.1383+962A>G c.1114A>G (p.Ile372Val) c.811A>G (p.Ile271Val) c.472A>G (p.Ile158Val) c.310A>G (p.Ile104Val) c.280A>G (p.Ile94Val) | gnomAD v4 |
| 5 | g.149898413T>G | CA361696151 | PDE6A | c.1357A>C (p.Ile453Leu) n.1383+962A>C c.1114A>C (p.Ile372Leu) c.811A>C (p.Ile271Leu) c.472A>C (p.Ile158Leu) c.310A>C (p.Ile104Leu) c.280A>C (p.Ile94Leu) | |
| 5 | g.149898414G>A | CA447141524 | PDE6A | c.1356C>T (p.Asp452=) n.1383+961C>T c.1113C>T (p.Asp371=) c.810C>T (p.Asp270=) c.471C>T (p.Asp157=) c.309C>T (p.Asp103=) c.279C>T (p.Asp93=) | |
| 5 | g.149898414G>C | CA361696152 | PDE6A | c.1356C>G (p.Asp452Glu) n.1383+961C>G c.1113C>G (p.Asp371Glu) c.810C>G (p.Asp270Glu) c.471C>G (p.Asp157Glu) c.309C>G (p.Asp103Glu) c.279C>G (p.Asp93Glu) | |
| 5 | g.149898414G>T | CA361696153 | PDE6A | c.1356C>A (p.Asp452Glu) n.1383+961C>A c.1113C>A (p.Asp371Glu) c.810C>A (p.Asp270Glu) c.471C>A (p.Asp157Glu) c.309C>A (p.Asp103Glu) c.279C>A (p.Asp93Glu) | |
| 5 | g.149898415T>A | CA3504722 | PDE6A | c.1355A>T (p.Asp452Val) n.1383+960A>T c.1112A>T (p.Asp371Val) c.809A>T (p.Asp270Val) c.470A>T (p.Asp157Val) c.308A>T (p.Asp103Val) c.278A>T (p.Asp93Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149898415T>C | CA361696155 | PDE6A | c.1355A>G (p.Asp452Gly) n.1383+960A>G c.1112A>G (p.Asp371Gly) c.809A>G (p.Asp270Gly) c.470A>G (p.Asp157Gly) c.308A>G (p.Asp103Gly) c.278A>G (p.Asp93Gly) | |
| 5 | g.149898415T>G | CA361696154 | PDE6A | c.1355A>C (p.Asp452Ala) n.1383+960A>C c.1112A>C (p.Asp371Ala) c.809A>C (p.Asp270Ala) c.470A>C (p.Asp157Ala) c.308A>C (p.Asp103Ala) c.278A>C (p.Asp93Ala) | |
| 5 | g.149898415T= | CA1590705214 | PDE6A | c.1355A= (p.Asp452=) n.1383+960A= c.1112A= (p.Asp371=) c.809A= (p.Asp270=) c.470A= (p.Asp157=) c.308A= (p.Asp103=) c.278A= (p.Asp93=) | |
| 5 | g.149898416C>A | CA361696156 | PDE6A | c.1354G>T (p.Asp452Tyr) n.1383+959G>T c.1111G>T (p.Asp371Tyr) c.808G>T (p.Asp270Tyr) c.469G>T (p.Asp157Tyr) c.307G>T (p.Asp103Tyr) c.277G>T (p.Asp93Tyr) | |
| 5 | g.149898416C>G | CA361696157 | PDE6A | c.1354G>C (p.Asp452His) n.1383+959G>C c.1111G>C (p.Asp371His) c.808G>C (p.Asp270His) c.469G>C (p.Asp157His) c.307G>C (p.Asp103His) c.277G>C (p.Asp93His) | |
| 5 | g.149898416C>T | CA361696158 | PDE6A | c.1354G>A (p.Asp452Asn) n.1383+959G>A c.1111G>A (p.Asp371Asn) c.808G>A (p.Asp270Asn) c.469G>A (p.Asp157Asn) c.307G>A (p.Asp103Asn) c.277G>A (p.Asp93Asn) | |
| 5 | g.149898417C>A | CA361696159 | PDE6A | c.1353G>T (p.Gln451His) n.1383+958G>T c.1110G>T (p.Gln370His) c.807G>T (p.Gln269His) c.468G>T (p.Gln156His) c.306G>T (p.Gln102His) c.276G>T (p.Gln92His) | |
| 5 | g.149898417C= | CA1590705220 | PDE6A | c.1353G= (p.Gln451=) n.1383+958G= c.1110G= (p.Gln370=) c.807G= (p.Gln269=) c.468G= (p.Gln156=) c.306G= (p.Gln102=) c.276G= (p.Gln92=) | |
| 5 | g.149898417C>G | CA361696160 | PDE6A | c.1353G>C (p.Gln451His) n.1383+958G>C c.1110G>C (p.Gln370His) c.807G>C (p.Gln269His) c.468G>C (p.Gln156His) c.306G>C (p.Gln102His) c.276G>C (p.Gln92His) | |
| 5 | g.149898417C>T | CA447141525 | PDE6A | c.1353G>A (p.Gln451=) n.1383+958G>A c.1110G>A (p.Gln370=) c.807G>A (p.Gln269=) c.468G>A (p.Gln156=) c.306G>A (p.Gln102=) c.276G>A (p.Gln92=) | dbSNP gnomAD v4 |
| 5 | g.149898418T>A | CA361696163 | PDE6A | c.1352A>T (p.Gln451Leu) n.1383+957A>T c.1109A>T (p.Gln370Leu) c.806A>T (p.Gln269Leu) c.467A>T (p.Gln156Leu) c.305A>T (p.Gln102Leu) c.275A>T (p.Gln92Leu) | |
| 5 | g.149898418T>C | CA361696161 | PDE6A | c.1352A>G (p.Gln451Arg) n.1383+957A>G c.1109A>G (p.Gln370Arg) c.806A>G (p.Gln269Arg) c.467A>G (p.Gln156Arg) c.305A>G (p.Gln102Arg) c.275A>G (p.Gln92Arg) | COSMIC |
| 5 | g.149898418T>G | CA361696162 | PDE6A | c.1352A>C (p.Gln451Pro) n.1383+957A>C c.1109A>C (p.Gln370Pro) c.806A>C (p.Gln269Pro) c.467A>C (p.Gln156Pro) c.305A>C (p.Gln102Pro) c.275A>C (p.Gln92Pro) | |
| 5 | g.149898419G>A | CA361696164 | PDE6A | c.1351C>T (p.Gln451Ter) n.1383+956C>T c.1108C>T (p.Gln370Ter) c.805C>T (p.Gln269Ter) c.466C>T (p.Gln156Ter) c.304C>T (p.Gln102Ter) c.274C>T (p.Gln92Ter) | |
| 5 | g.149898419G>C | CA361696165 | PDE6A | c.1351C>G (p.Gln451Glu) n.1383+956C>G c.1108C>G (p.Gln370Glu) c.805C>G (p.Gln269Glu) c.466C>G (p.Gln156Glu) c.304C>G (p.Gln102Glu) c.274C>G (p.Gln92Glu) | |
| 5 | g.149898419G>T | CA361696166 | PDE6A | c.1351C>A (p.Gln451Lys) n.1383+956C>A c.1108C>A (p.Gln370Lys) c.805C>A (p.Gln269Lys) c.466C>A (p.Gln156Lys) c.304C>A (p.Gln102Lys) c.274C>A (p.Gln92Lys) | |
| 5 | g.149898420G>A | CA447141526 | PDE6A | c.1350C>T (p.Phe450=) n.1383+955C>T c.1107C>T (p.Phe369=) c.804C>T (p.Phe268=) c.465C>T (p.Phe155=) c.303C>T (p.Phe101=) c.273C>T (p.Phe91=) | |
| 5 | g.149898420G>C | CA361696167 | PDE6A | c.1350C>G (p.Phe450Leu) n.1383+955C>G c.1107C>G (p.Phe369Leu) c.804C>G (p.Phe268Leu) c.465C>G (p.Phe155Leu) c.303C>G (p.Phe101Leu) c.273C>G (p.Phe91Leu) | |
| 5 | g.149898420G>T | CA361696168 | PDE6A | c.1350C>A (p.Phe450Leu) n.1383+955C>A c.1107C>A (p.Phe369Leu) c.804C>A (p.Phe268Leu) c.465C>A (p.Phe155Leu) c.303C>A (p.Phe101Leu) c.273C>A (p.Phe91Leu) | gnomAD v4 |
| 5 | g.149898421A= | CA1590705223 | PDE6A | c.1349T= (p.Phe450=) n.1383+954T= c.1106T= (p.Phe369=) c.803T= (p.Phe268=) c.464T= (p.Phe155=) c.302T= (p.Phe101=) c.272T= (p.Phe91=) | |
| 5 | g.149898421A>C | CA361696170 | PDE6A | c.1349T>G (p.Phe450Cys) n.1383+954T>G c.1106T>G (p.Phe369Cys) c.803T>G (p.Phe268Cys) c.464T>G (p.Phe155Cys) c.302T>G (p.Phe101Cys) c.272T>G (p.Phe91Cys) | |
| 5 | g.149898421A>G | CA3504723 | PDE6A | c.1349T>C (p.Phe450Ser) n.1383+954T>C c.1106T>C (p.Phe369Ser) c.803T>C (p.Phe268Ser) c.464T>C (p.Phe155Ser) c.302T>C (p.Phe101Ser) c.272T>C (p.Phe91Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |