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 |
|---|---|---|---|---|---|
| 5 | g.149895236G>A | CA361695146 | PDE6A | c.1675C>T (p.His559Tyr) n.1859C>T c.1432C>T (p.His478Tyr) c.1129C>T (p.His377Tyr) c.790C>T (p.His264Tyr) c.628C>T (p.His210Tyr) c.598C>T (p.His200Tyr) | dbSNP gnomAD v4 |
| 5 | g.149895236G>C | CA361695147 | PDE6A | c.1675C>G (p.His559Asp) n.1859C>G c.1432C>G (p.His478Asp) c.1129C>G (p.His377Asp) c.790C>G (p.His264Asp) c.628C>G (p.His210Asp) c.598C>G (p.His200Asp) | |
| 5 | g.149895236G= | CA1590702560 | PDE6A | c.1675C= (p.His559=) n.1859C= c.1432C= (p.His478=) c.1129C= (p.His377=) c.790C= (p.His264=) c.628C= (p.His210=) c.598C= (p.His200=) | |
| 5 | g.149895236G>T | CA361695148 | PDE6A | c.1675C>A (p.His559Asn) n.1859C>A c.1432C>A (p.His478Asn) c.1129C>A (p.His377Asn) c.790C>A (p.His264Asn) c.628C>A (p.His210Asn) c.598C>A (p.His200Asn) | |
| 5 | g.149895237G>A | CA129067098 | PDE6A | c.1674C>T (p.Tyr558=) n.1858C>T c.1431C>T (p.Tyr477=) c.1128C>T (p.Tyr376=) c.789C>T (p.Tyr263=) c.627C>T (p.Tyr209=) c.597C>T (p.Tyr199=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149895237G>C | CA361695149 | PDE6A | c.1674C>G (p.Tyr558Ter) n.1858C>G c.1431C>G (p.Tyr477Ter) c.1128C>G (p.Tyr376Ter) c.789C>G (p.Tyr263Ter) c.627C>G (p.Tyr209Ter) c.597C>G (p.Tyr199Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149895237G= | CA1590702566 | PDE6A | c.1674C= (p.Tyr558=) n.1858C= c.1431C= (p.Tyr477=) c.1128C= (p.Tyr376=) c.789C= (p.Tyr263=) c.627C= (p.Tyr209=) c.597C= (p.Tyr199=) | |
| 5 | g.149895237G>T | CA361695150 | PDE6A | c.1674C>A (p.Tyr558Ter) n.1858C>A c.1431C>A (p.Tyr477Ter) c.1128C>A (p.Tyr376Ter) c.789C>A (p.Tyr263Ter) c.627C>A (p.Tyr209Ter) c.597C>A (p.Tyr199Ter) | |
| 5 | g.149895238T>A | CA361695151 | PDE6A | c.1673A>T (p.Tyr558Phe) n.1857A>T c.1430A>T (p.Tyr477Phe) c.1127A>T (p.Tyr376Phe) c.788A>T (p.Tyr263Phe) c.626A>T (p.Tyr209Phe) c.596A>T (p.Tyr199Phe) | |
| 5 | g.149895238T>C | CA361695152 | PDE6A | c.1673A>G (p.Tyr558Cys) n.1857A>G c.1430A>G (p.Tyr477Cys) c.1127A>G (p.Tyr376Cys) c.788A>G (p.Tyr263Cys) c.626A>G (p.Tyr209Cys) c.596A>G (p.Tyr199Cys) | |
| 5 | g.149895238T>G | CA361695153 | PDE6A | c.1673A>C (p.Tyr558Ser) n.1857A>C c.1430A>C (p.Tyr477Ser) c.1127A>C (p.Tyr376Ser) c.788A>C (p.Tyr263Ser) c.626A>C (p.Tyr209Ser) c.596A>C (p.Tyr199Ser) | |
| 5 | g.149895239A= | CA1590702568 | PDE6A | c.1672T= (p.Tyr558=) n.1856T= c.1429T= (p.Tyr477=) c.1126T= (p.Tyr376=) c.787T= (p.Tyr263=) c.625T= (p.Tyr209=) c.595T= (p.Tyr199=) | |
| 5 | g.149895239A>C | CA361695154 | PDE6A | c.1672T>G (p.Tyr558Asp) n.1856T>G c.1429T>G (p.Tyr477Asp) c.1126T>G (p.Tyr376Asp) c.787T>G (p.Tyr263Asp) c.625T>G (p.Tyr209Asp) c.595T>G (p.Tyr199Asp) | |
| 5 | g.149895239A>G | CA3504596 | PDE6A | c.1672T>C (p.Tyr558His) n.1856T>C c.1429T>C (p.Tyr477His) c.1126T>C (p.Tyr376His) c.787T>C (p.Tyr263His) c.625T>C (p.Tyr209His) c.595T>C (p.Tyr199His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149895239A>T | CA361695155 | PDE6A | c.1672T>A (p.Tyr558Asn) n.1856T>A c.1429T>A (p.Tyr477Asn) c.1126T>A (p.Tyr376Asn) c.787T>A (p.Tyr263Asn) c.625T>A (p.Tyr209Asn) c.595T>A (p.Tyr199Asn) | |
| 5 | g.149895240G>A | CA447141364 | PDE6A | c.1671C>T (p.Thr557=) n.1855C>T c.1428C>T (p.Thr476=) c.1125C>T (p.Thr375=) c.786C>T (p.Thr262=) c.624C>T (p.Thr208=) c.594C>T (p.Thr198=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149895240G>C | CA447141365 | PDE6A | c.1671C>G (p.Thr557=) n.1855C>G c.1428C>G (p.Thr476=) c.1125C>G (p.Thr375=) c.786C>G (p.Thr262=) c.624C>G (p.Thr208=) c.594C>G (p.Thr198=) | ClinVar dbSNP |
| 5 | g.149895240G= | CA1590702571 | PDE6A | c.1671C= (p.Thr557=) n.1855C= c.1428C= (p.Thr476=) c.1125C= (p.Thr375=) c.786C= (p.Thr262=) c.624C= (p.Thr208=) c.594C= (p.Thr198=) | |
| 5 | g.149895240G>T | CA447141363 | PDE6A | c.1671C>A (p.Thr557=) n.1855C>A c.1428C>A (p.Thr476=) c.1125C>A (p.Thr375=) c.786C>A (p.Thr262=) c.624C>A (p.Thr208=) c.594C>A (p.Thr198=) | |
| 5 | g.149895241del | CA2675941228 | PDE6A | c.1671del (p.Tyr558ThrfsTer19) n.1855del c.1428del (p.Tyr477ThrfsTer19) c.1125del (p.Tyr376ThrfsTer19) c.786del (p.Tyr263ThrfsTer19) c.624del (p.Tyr209ThrfsTer19) c.594del (p.Tyr199ThrfsTer19) | gnomAD v4 |
| 5 | g.149895241G>A | CA361695156 | PDE6A | c.1670C>T (p.Thr557Ile) n.1854C>T c.1427C>T (p.Thr476Ile) c.1124C>T (p.Thr375Ile) c.785C>T (p.Thr262Ile) c.623C>T (p.Thr208Ile) c.593C>T (p.Thr198Ile) | dbSNP gnomAD v4 |
| 5 | g.149895241G>C | CA361695158 | PDE6A | c.1670C>G (p.Thr557Ser) n.1854C>G c.1427C>G (p.Thr476Ser) c.1124C>G (p.Thr375Ser) c.785C>G (p.Thr262Ser) c.623C>G (p.Thr208Ser) c.593C>G (p.Thr198Ser) | |
| 5 | g.149895241G= | CA1590702575 | PDE6A | c.1670C= (p.Thr557=) n.1854C= c.1427C= (p.Thr476=) c.1124C= (p.Thr375=) c.785C= (p.Thr262=) c.623C= (p.Thr208=) c.593C= (p.Thr198=) | |
| 5 | g.149895241G>T | CA361695157 | PDE6A | c.1670C>A (p.Thr557Asn) n.1854C>A c.1427C>A (p.Thr476Asn) c.1124C>A (p.Thr375Asn) c.785C>A (p.Thr262Asn) c.623C>A (p.Thr208Asn) c.593C>A (p.Thr198Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149895242T>A | CA361695159 | PDE6A | c.1669A>T (p.Thr557Ser) n.1853A>T c.1426A>T (p.Thr476Ser) c.1123A>T (p.Thr375Ser) c.784A>T (p.Thr262Ser) c.622A>T (p.Thr208Ser) c.592A>T (p.Thr198Ser) | |
| 5 | g.149895242T>C | CA361695160 | PDE6A | c.1669A>G (p.Thr557Ala) n.1853A>G c.1426A>G (p.Thr476Ala) c.1123A>G (p.Thr375Ala) c.784A>G (p.Thr262Ala) c.622A>G (p.Thr208Ala) c.592A>G (p.Thr198Ala) | gnomAD v4 |
| 5 | g.149895242T>G | CA361695161 | PDE6A | c.1669A>C (p.Thr557Pro) n.1853A>C c.1426A>C (p.Thr476Pro) c.1123A>C (p.Thr375Pro) c.784A>C (p.Thr262Pro) c.622A>C (p.Thr208Pro) c.592A>C (p.Thr198Pro) | dbSNP |
| 5 | g.149895242T= | CA1590702578 | PDE6A | c.1669A= (p.Thr557=) n.1853A= c.1426A= (p.Thr476=) c.1123A= (p.Thr375=) c.784A= (p.Thr262=) c.622A= (p.Thr208=) c.592A= (p.Thr198=) | |
| 5 | g.149895243G>A | CA447141366 | PDE6A | c.1668C>T (p.Ile556=) n.1852C>T c.1425C>T (p.Ile475=) c.1122C>T (p.Ile374=) c.783C>T (p.Ile261=) c.621C>T (p.Ile207=) c.591C>T (p.Ile197=) | gnomAD v4 |
| 5 | g.149895243G>C | CA361695162 | PDE6A | c.1668C>G (p.Ile556Met) n.1852C>G c.1425C>G (p.Ile475Met) c.1122C>G (p.Ile374Met) c.783C>G (p.Ile261Met) c.621C>G (p.Ile207Met) c.591C>G (p.Ile197Met) | |
| 5 | g.149895243G>T | CA447141367 | PDE6A | c.1668C>A (p.Ile556=) n.1852C>A c.1425C>A (p.Ile475=) c.1122C>A (p.Ile374=) c.783C>A (p.Ile261=) c.621C>A (p.Ile207=) c.591C>A (p.Ile197=) | |
| 5 | g.149895244A>C | CA361695163 | PDE6A | c.1667T>G (p.Ile556Ser) n.1851T>G c.1424T>G (p.Ile475Ser) c.1121T>G (p.Ile374Ser) c.782T>G (p.Ile261Ser) c.620T>G (p.Ile207Ser) c.590T>G (p.Ile197Ser) | |
| 5 | g.149895244A>G | CA361695164 | PDE6A | c.1667T>C (p.Ile556Thr) n.1851T>C c.1424T>C (p.Ile475Thr) c.1121T>C (p.Ile374Thr) c.782T>C (p.Ile261Thr) c.620T>C (p.Ile207Thr) c.590T>C (p.Ile197Thr) | |
| 5 | g.149895244A>T | CA361695165 | PDE6A | c.1667T>A (p.Ile556Asn) n.1851T>A c.1424T>A (p.Ile475Asn) c.1121T>A (p.Ile374Asn) c.782T>A (p.Ile261Asn) c.620T>A (p.Ile207Asn) c.590T>A (p.Ile197Asn) | |
| 5 | g.149895245T>A | CA361695166 | PDE6A | c.1666A>T (p.Ile556Phe) n.1850A>T c.1423A>T (p.Ile475Phe) c.1120A>T (p.Ile374Phe) c.781A>T (p.Ile261Phe) c.619A>T (p.Ile207Phe) c.589A>T (p.Ile197Phe) | |
| 5 | g.149895245T>C | CA361695167 | PDE6A | c.1666A>G (p.Ile556Val) n.1850A>G c.1423A>G (p.Ile475Val) c.1120A>G (p.Ile374Val) c.781A>G (p.Ile261Val) c.619A>G (p.Ile207Val) c.589A>G (p.Ile197Val) | |
| 5 | g.149895245T>G | CA361695168 | PDE6A | c.1666A>C (p.Ile556Leu) n.1850A>C c.1423A>C (p.Ile475Leu) c.1120A>C (p.Ile374Leu) c.781A>C (p.Ile261Leu) c.619A>C (p.Ile207Leu) c.589A>C (p.Ile197Leu) | |
| 5 | g.149895246C>A | CA361695169 | PDE6A | c.1665G>T (p.Lys555Asn) n.1849G>T c.1422G>T (p.Lys474Asn) c.1119G>T (p.Lys373Asn) c.780G>T (p.Lys260Asn) c.618G>T (p.Lys206Asn) c.588G>T (p.Lys196Asn) | |
| 5 | g.149895246C= | CA1590702581 | PDE6A | c.1665G= (p.Lys555=) n.1849G= c.1422G= (p.Lys474=) c.1119G= (p.Lys373=) c.780G= (p.Lys260=) c.618G= (p.Lys206=) c.588G= (p.Lys196=) | |
| 5 | g.149895246C>G | CA129067113 | PDE6A | c.1665G>C (p.Lys555Asn) n.1849G>C c.1422G>C (p.Lys474Asn) c.1119G>C (p.Lys373Asn) c.780G>C (p.Lys260Asn) c.618G>C (p.Lys206Asn) c.588G>C (p.Lys196Asn) | dbSNP |
| 5 | g.149895246C>T | CA447141368 | PDE6A | c.1665G>A (p.Lys555=) n.1849G>A c.1422G>A (p.Lys474=) c.1119G>A (p.Lys373=) c.780G>A (p.Lys260=) c.618G>A (p.Lys206=) c.588G>A (p.Lys196=) | |
| 5 | g.149895247T>A | CA361695170 | PDE6A | c.1664A>T (p.Lys555Met) n.1848A>T c.1421A>T (p.Lys474Met) c.1118A>T (p.Lys373Met) c.779A>T (p.Lys260Met) c.617A>T (p.Lys206Met) c.587A>T (p.Lys196Met) | |
| 5 | g.149895247T>C | CA361695171 | PDE6A | c.1664A>G (p.Lys555Arg) n.1848A>G c.1421A>G (p.Lys474Arg) c.1118A>G (p.Lys373Arg) c.779A>G (p.Lys260Arg) c.617A>G (p.Lys206Arg) c.587A>G (p.Lys196Arg) | |
| 5 | g.149895247T>G | CA129067116 | PDE6A | c.1664A>C (p.Lys555Thr) n.1848A>C c.1421A>C (p.Lys474Thr) c.1118A>C (p.Lys373Thr) c.779A>C (p.Lys260Thr) c.617A>C (p.Lys206Thr) c.587A>C (p.Lys196Thr) | dbSNP |
| 5 | g.149895247T= | CA1590702583 | PDE6A | c.1664A= (p.Lys555=) n.1848A= c.1421A= (p.Lys474=) c.1118A= (p.Lys373=) c.779A= (p.Lys260=) c.617A= (p.Lys206=) c.587A= (p.Lys196=) | |
| 5 | g.149895248del | CA2499217727 | PDE6A | c.1664del (p.Lys555ArgfsTer22) n.1848del c.1421del (p.Lys474ArgfsTer22) c.1118del (p.Lys373ArgfsTer22) c.779del (p.Lys260ArgfsTer22) c.617del (p.Lys206ArgfsTer22) c.587del (p.Lys196ArgfsTer22) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149895248T>A | CA361695172 | PDE6A | c.1663A>T (p.Lys555Ter) n.1847A>T c.1420A>T (p.Lys474Ter) c.1117A>T (p.Lys373Ter) c.778A>T (p.Lys260Ter) c.616A>T (p.Lys206Ter) c.586A>T (p.Lys196Ter) | |
| 5 | g.149895248T>C | CA361695173 | PDE6A | c.1663A>G (p.Lys555Glu) n.1847A>G c.1420A>G (p.Lys474Glu) c.1117A>G (p.Lys373Glu) c.778A>G (p.Lys260Glu) c.616A>G (p.Lys206Glu) c.586A>G (p.Lys196Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149895248T>G | CA361695174 | PDE6A | c.1663A>C (p.Lys555Gln) n.1847A>C c.1420A>C (p.Lys474Gln) c.1117A>C (p.Lys373Gln) c.778A>C (p.Lys260Gln) c.616A>C (p.Lys206Gln) c.586A>C (p.Lys196Gln) | |
| 5 | g.149895248T= | CA1590702588 | PDE6A | c.1663A= (p.Lys555=) n.1847A= c.1420A= (p.Lys474=) c.1117A= (p.Lys373=) c.778A= (p.Lys260=) c.616A= (p.Lys206=) c.586A= (p.Lys196=) |