| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149895228C>A | CA361695125 | PDE6A | c.1683G>T (p.Trp561Cys) n.1867G>T c.1440G>T (p.Trp480Cys) c.1137G>T (p.Trp379Cys) c.798G>T (p.Trp266Cys) c.636G>T (p.Trp212Cys) c.606G>T (p.Trp202Cys) | |
| 5 | g.149895228C= | CA1590702551 | PDE6A | c.1683G= (p.Trp561=) n.1867G= c.1440G= (p.Trp480=) c.1137G= (p.Trp379=) c.798G= (p.Trp266=) c.636G= (p.Trp212=) c.606G= (p.Trp202=) | |
| 5 | g.149895228C>G | CA361695126 | PDE6A | c.1683G>C (p.Trp561Cys) n.1867G>C c.1440G>C (p.Trp480Cys) c.1137G>C (p.Trp379Cys) c.798G>C (p.Trp266Cys) c.636G>C (p.Trp212Cys) c.606G>C (p.Trp202Cys) | gnomAD v4 |
| 5 | g.149895228C>T | CA256728 | PDE6A | c.1683G>A (p.Trp561Ter) n.1867G>A c.1440G>A (p.Trp480Ter) c.1137G>A (p.Trp379Ter) c.798G>A (p.Trp266Ter) c.636G>A (p.Trp212Ter) c.606G>A (p.Trp202Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149895229C>A | CA361695127 | PDE6A | c.1682G>T (p.Trp561Leu) n.1866G>T c.1439G>T (p.Trp480Leu) c.1136G>T (p.Trp379Leu) c.797G>T (p.Trp266Leu) c.635G>T (p.Trp212Leu) c.605G>T (p.Trp202Leu) | |
| 5 | g.149895229C>G | CA361695128 | PDE6A | c.1682G>C (p.Trp561Ser) n.1866G>C c.1439G>C (p.Trp480Ser) c.1136G>C (p.Trp379Ser) c.797G>C (p.Trp266Ser) c.635G>C (p.Trp212Ser) c.605G>C (p.Trp202Ser) | |
| 5 | g.149895229C>T | CA361695129 | PDE6A | c.1682G>A (p.Trp561Ter) n.1866G>A c.1439G>A (p.Trp480Ter) c.1136G>A (p.Trp379Ter) c.797G>A (p.Trp266Ter) c.635G>A (p.Trp212Ter) c.605G>A (p.Trp202Ter) | |
| 5 | g.149895230A= | CA1590702557 | PDE6A | c.1681T= (p.Trp561=) n.1865T= c.1438T= (p.Trp480=) c.1135T= (p.Trp379=) c.796T= (p.Trp266=) c.634T= (p.Trp212=) c.604T= (p.Trp202=) | |
| 5 | g.149895230A>C | CA361695130 | PDE6A | c.1681T>G (p.Trp561Gly) n.1865T>G c.1438T>G (p.Trp480Gly) c.1135T>G (p.Trp379Gly) c.796T>G (p.Trp266Gly) c.634T>G (p.Trp212Gly) c.604T>G (p.Trp202Gly) | |
| 5 | g.149895230A>G | CA361695131 | PDE6A | c.1681T>C (p.Trp561Arg) n.1865T>C c.1438T>C (p.Trp480Arg) c.1135T>C (p.Trp379Arg) c.796T>C (p.Trp266Arg) c.634T>C (p.Trp212Arg) c.604T>C (p.Trp202Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149895230A>T | CA361695132 | PDE6A | c.1681T>A (p.Trp561Arg) n.1865T>A c.1438T>A (p.Trp480Arg) c.1135T>A (p.Trp379Arg) c.796T>A (p.Trp266Arg) c.634T>A (p.Trp212Arg) c.604T>A (p.Trp202Arg) | |
| 5 | g.149895231G>A | CA447141361 | PDE6A | c.1680C>T (p.Asn560=) n.1864C>T c.1437C>T (p.Asn479=) c.1134C>T (p.Asn378=) c.795C>T (p.Asn265=) c.633C>T (p.Asn211=) c.603C>T (p.Asn201=) | |
| 5 | g.149895231G>C | CA361695133 | PDE6A | c.1680C>G (p.Asn560Lys) n.1864C>G c.1437C>G (p.Asn479Lys) c.1134C>G (p.Asn378Lys) c.795C>G (p.Asn265Lys) c.633C>G (p.Asn211Lys) c.603C>G (p.Asn201Lys) | |
| 5 | g.149895231G>T | CA361695134 | PDE6A | c.1680C>A (p.Asn560Lys) n.1864C>A c.1437C>A (p.Asn479Lys) c.1134C>A (p.Asn378Lys) c.795C>A (p.Asn265Lys) c.633C>A (p.Asn211Lys) c.603C>A (p.Asn201Lys) | |
| 5 | g.149895232T>A | CA361695135 | PDE6A | c.1679A>T (p.Asn560Ile) n.1863A>T c.1436A>T (p.Asn479Ile) c.1133A>T (p.Asn378Ile) c.794A>T (p.Asn265Ile) c.632A>T (p.Asn211Ile) c.602A>T (p.Asn201Ile) | |
| 5 | g.149895232T>C | CA361695136 | PDE6A | c.1679A>G (p.Asn560Ser) n.1863A>G c.1436A>G (p.Asn479Ser) c.1133A>G (p.Asn378Ser) c.794A>G (p.Asn265Ser) c.632A>G (p.Asn211Ser) c.602A>G (p.Asn201Ser) | ClinVar gnomAD v4 |
| 5 | g.149895232T>G | CA361695137 | PDE6A | c.1679A>C (p.Asn560Thr) n.1863A>C c.1436A>C (p.Asn479Thr) c.1133A>C (p.Asn378Thr) c.794A>C (p.Asn265Thr) c.632A>C (p.Asn211Thr) c.602A>C (p.Asn201Thr) | |
| 5 | g.149895233T>A | CA361695140 | PDE6A | c.1678A>T (p.Asn560Tyr) n.1862A>T c.1435A>T (p.Asn479Tyr) c.1132A>T (p.Asn378Tyr) c.793A>T (p.Asn265Tyr) c.631A>T (p.Asn211Tyr) c.601A>T (p.Asn201Tyr) | |
| 5 | g.149895233T>C | CA361695139 | PDE6A | c.1678A>G (p.Asn560Asp) n.1862A>G c.1435A>G (p.Asn479Asp) c.1132A>G (p.Asn378Asp) c.793A>G (p.Asn265Asp) c.631A>G (p.Asn211Asp) c.601A>G (p.Asn201Asp) | |
| 5 | g.149895233T>G | CA361695138 | PDE6A | c.1678A>C (p.Asn560His) n.1862A>C c.1435A>C (p.Asn479His) c.1132A>C (p.Asn378His) c.793A>C (p.Asn265His) c.631A>C (p.Asn211His) c.601A>C (p.Asn201His) | |
| 5 | g.149895234G>A | CA447141362 | PDE6A | c.1677C>T (p.His559=) n.1861C>T c.1434C>T (p.His478=) c.1131C>T (p.His377=) c.792C>T (p.His264=) c.630C>T (p.His210=) c.600C>T (p.His200=) | |
| 5 | g.149895234G>C | CA361695141 | PDE6A | c.1677C>G (p.His559Gln) n.1861C>G c.1434C>G (p.His478Gln) c.1131C>G (p.His377Gln) c.792C>G (p.His264Gln) c.630C>G (p.His210Gln) c.600C>G (p.His200Gln) | |
| 5 | g.149895234G>T | CA361695142 | PDE6A | c.1677C>A (p.His559Gln) n.1861C>A c.1434C>A (p.His478Gln) c.1131C>A (p.His377Gln) c.792C>A (p.His264Gln) c.630C>A (p.His210Gln) c.600C>A (p.His200Gln) | |
| 5 | g.149895235T>A | CA361695143 | PDE6A | c.1676A>T (p.His559Leu) n.1860A>T c.1433A>T (p.His478Leu) c.1130A>T (p.His377Leu) c.791A>T (p.His264Leu) c.629A>T (p.His210Leu) c.599A>T (p.His200Leu) | |
| 5 | g.149895235T>C | CA361695145 | PDE6A | c.1676A>G (p.His559Arg) n.1860A>G c.1433A>G (p.His478Arg) c.1130A>G (p.His377Arg) c.791A>G (p.His264Arg) c.629A>G (p.His210Arg) c.599A>G (p.His200Arg) | |
| 5 | g.149895235T>G | CA361695144 | PDE6A | c.1676A>C (p.His559Pro) n.1860A>C c.1433A>C (p.His478Pro) c.1130A>C (p.His377Pro) c.791A>C (p.His264Pro) c.629A>C (p.His210Pro) c.599A>C (p.His200Pro) | |
| 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 |