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.149883418_149883422dup | CA1590694595 | PDE6A | c.2135+11_2135+15dup (n.2135+11_2135+15dup) n.2319+11_2319+15dup c.1892+11_1892+15dup (n.1892+11_1892+15dup) c.1589+11_1589+15dup (n.1589+11_1589+15dup) c.1250+11_1250+15dup (n.1250+11_1250+15dup) c.1088+11_1088+15dup (n.1088+11_1088+15dup) c.1058+11_1058+15dup (n.1058+11_1058+15dup) | dbSNP |
| 5 | g.149883418T>A | CA805536550 | PDE6A | c.2135+11A>T (n.2135+11A>T) n.2319+11A>T c.1892+11A>T (n.1892+11A>T) c.1589+11A>T (n.1589+11A>T) c.1250+11A>T (n.1250+11A>T) c.1088+11A>T (n.1088+11A>T) c.1058+11A>T (n.1058+11A>T) | dbSNP |
| 5 | g.149883418T>C | CA3504403 | PDE6A | c.2135+11A>G (n.2135+11A>G) n.2319+11A>G c.1892+11A>G (n.1892+11A>G) c.1589+11A>G (n.1589+11A>G) c.1250+11A>G (n.1250+11A>G) c.1088+11A>G (n.1088+11A>G) c.1058+11A>G (n.1058+11A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149883418T= | CA1590694597 | PDE6A | c.2135+11A= (n.2135+11A=) n.2319+11A= c.1892+11A= (n.1892+11A=) c.1589+11A= (n.1589+11A=) c.1250+11A= (n.1250+11A=) c.1088+11A= (n.1088+11A=) c.1058+11A= (n.1058+11A=) | |
| 5 | g.149883421del | CA2675938654 | PDE6A | c.2135+10del (n.2135+10del) n.2319+10del c.1892+10del (n.1892+10del) c.1589+10del (n.1589+10del) c.1250+10del (n.1250+10del) c.1088+10del (n.1088+10del) c.1058+10del (n.1058+10del) | gnomAD v4 |
| 5 | g.149883420C>T | CA2578448908 | PDE6A | c.2135+9G>A (n.2135+9G>A) n.2319+9G>A c.1892+9G>A (n.1892+9G>A) c.1589+9G>A (n.1589+9G>A) c.1250+9G>A (n.1250+9G>A) c.1088+9G>A (n.1088+9G>A) c.1058+9G>A (n.1058+9G>A) | gnomAD v4 |
| 5 | g.149883421C= | CA1590694598 | PDE6A | c.2135+8G= (n.2135+8G=) n.2319+8G= c.1892+8G= (n.1892+8G=) c.1589+8G= (n.1589+8G=) c.1250+8G= (n.1250+8G=) c.1088+8G= (n.1088+8G=) c.1058+8G= (n.1058+8G=) | |
| 5 | g.149883421C>T | CA129059180 | PDE6A | c.2135+8G>A (n.2135+8G>A) n.2319+8G>A c.1892+8G>A (n.1892+8G>A) c.1589+8G>A (n.1589+8G>A) c.1250+8G>A (n.1250+8G>A) c.1088+8G>A (n.1088+8G>A) c.1058+8G>A (n.1058+8G>A) | dbSNP |
| 5 | g.149883423dup | CA3504404 | PDE6A | c.2135+7dup (n.2135+7dup) n.2319+7dup c.1892+7dup (n.1892+7dup) c.1589+7dup (n.1589+7dup) c.1250+7dup (n.1250+7dup) c.1088+7dup (n.1088+7dup) c.1058+7dup (n.1058+7dup) | dbSNP ExAC gnomAD v2 |
| 5 | g.149883424C>T | CA2499217732 | PDE6A | c.2135+5G>A (n.2135+5G>A) n.2319+5G>A c.1892+5G>A (n.1892+5G>A) c.1589+5G>A (n.1589+5G>A) c.1250+5G>A (n.1250+5G>A) c.1088+5G>A (n.1088+5G>A) c.1058+5G>A (n.1058+5G>A) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149883425T>G | CA2675938657 | PDE6A | c.2135+4A>C (n.2135+4A>C) n.2319+4A>C c.1892+4A>C (n.1892+4A>C) c.1589+4A>C (n.1589+4A>C) c.1250+4A>C (n.1250+4A>C) c.1088+4A>C (n.1088+4A>C) c.1058+4A>C (n.1058+4A>C) | gnomAD v4 |
| 5 | g.149883425_149883427delinsTCA | CA1590694599 | PDE6A | c.2135+2_2135+4delinsTGA (n.2135+2_2135+4delinsTGA) n.2319+2_2319+4delinsTGA c.1892+2_1892+4delinsTGA (n.1892+2_1892+4delinsTGA) c.1589+2_1589+4delinsTGA (n.1589+2_1589+4delinsTGA) c.1250+2_1250+4delinsTGA (n.1250+2_1250+4delinsTGA) c.1088+2_1088+4delinsTGA (n.1088+2_1088+4delinsTGA) c.1058+2_1058+4delinsTGA (n.1058+2_1058+4delinsTGA) | |
| 5 | g.149883428_149883429del | CA129059184 | PDE6A | c.2135+2_2135+3del n.2319+2_2319+3del c.1892+2_1892+3del c.1589+2_1589+3del c.1250+2_1250+3del c.1088+2_1088+3del c.1058+2_1058+3del | dbSNP |
| 5 | g.149883427A>C | CA361692192 | PDE6A | c.2135+2T>G (n.2135+2T>G) n.2319+2T>G c.1892+2T>G (n.1892+2T>G) c.1589+2T>G (n.1589+2T>G) c.1250+2T>G (n.1250+2T>G) c.1088+2T>G (n.1088+2T>G) c.1058+2T>G (n.1058+2T>G) | |
| 5 | g.149883427A>G | CA361692193 | PDE6A | c.2135+2T>C (n.2135+2T>C) n.2319+2T>C c.1892+2T>C (n.1892+2T>C) c.1589+2T>C (n.1589+2T>C) c.1250+2T>C (n.1250+2T>C) c.1088+2T>C (n.1088+2T>C) c.1058+2T>C (n.1058+2T>C) | |
| 5 | g.149883427A>T | CA361692195 | PDE6A | c.2135+2T>A (n.2135+2T>A) n.2319+2T>A c.1892+2T>A (n.1892+2T>A) c.1589+2T>A (n.1589+2T>A) c.1250+2T>A (n.1250+2T>A) c.1088+2T>A (n.1088+2T>A) c.1058+2T>A (n.1058+2T>A) | |
| 5 | g.149883428C>A | CA361692197 | PDE6A | c.2135+1G>T (n.2135+1G>T) n.2319+1G>T c.1892+1G>T (n.1892+1G>T) c.1589+1G>T (n.1589+1G>T) c.1250+1G>T (n.1250+1G>T) c.1088+1G>T (n.1088+1G>T) c.1058+1G>T (n.1058+1G>T) | ClinVar dbSNP |
| 5 | g.149883428C= | CA1590694600 | PDE6A | c.2135+1G= (n.2135+1G=) n.2319+1G= c.1892+1G= (n.1892+1G=) c.1589+1G= (n.1589+1G=) c.1250+1G= (n.1250+1G=) c.1088+1G= (n.1088+1G=) c.1058+1G= (n.1058+1G=) | |
| 5 | g.149883428C>G | CA361692198 | PDE6A | c.2135+1G>C (n.2135+1G>C) n.2319+1G>C c.1892+1G>C (n.1892+1G>C) c.1589+1G>C (n.1589+1G>C) c.1250+1G>C (n.1250+1G>C) c.1088+1G>C (n.1088+1G>C) c.1058+1G>C (n.1058+1G>C) | |
| 5 | g.149883428C>T | CA3504405 | PDE6A | c.2135+1G>A (n.2135+1G>A) n.2319+1G>A c.1892+1G>A (n.1892+1G>A) c.1589+1G>A (n.1589+1G>A) c.1250+1G>A (n.1250+1G>A) c.1088+1G>A (n.1088+1G>A) c.1058+1G>A (n.1058+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149883429A= | CA1590694601 | PDE6A | c.2135T= (p.Met712=) n.2319T= c.1892T= (p.Met631=) c.1589T= (p.Met530=) c.1250T= (p.Met417=) c.1088T= (p.Met363=) c.1058T= (p.Met353=) | |
| 5 | g.149883429A>C | CA129059194 | PDE6A | c.2135T>G (p.Met712Arg) n.2319T>G c.1892T>G (p.Met631Arg) c.1589T>G (p.Met530Arg) c.1250T>G (p.Met417Arg) c.1088T>G (p.Met363Arg) c.1058T>G (p.Met353Arg) | dbSNP |
| 5 | g.149883429A>G | CA361692202 | PDE6A | c.2135T>C (p.Met712Thr) n.2319T>C c.1892T>C (p.Met631Thr) c.1589T>C (p.Met530Thr) c.1250T>C (p.Met417Thr) c.1088T>C (p.Met363Thr) c.1058T>C (p.Met353Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149883429A>T | CA361692204 | PDE6A | c.2135T>A (p.Met712Lys) n.2319T>A c.1892T>A (p.Met631Lys) c.1589T>A (p.Met530Lys) c.1250T>A (p.Met417Lys) c.1088T>A (p.Met363Lys) c.1058T>A (p.Met353Lys) | |
| 5 | g.149883430T>A | CA361692206 | PDE6A | c.2134A>T (p.Met712Leu) n.2318A>T c.1891A>T (p.Met631Leu) c.1588A>T (p.Met530Leu) c.1249A>T (p.Met417Leu) c.1087A>T (p.Met363Leu) c.1057A>T (p.Met353Leu) | |
| 5 | g.149883430T>C | CA361692207 | PDE6A | c.2134A>G (p.Met712Val) n.2318A>G c.1891A>G (p.Met631Val) c.1588A>G (p.Met530Val) c.1249A>G (p.Met417Val) c.1087A>G (p.Met363Val) c.1057A>G (p.Met353Val) | |
| 5 | g.149883430T>G | CA361692209 | PDE6A | c.2134A>C (p.Met712Leu) n.2318A>C c.1891A>C (p.Met631Leu) c.1588A>C (p.Met530Leu) c.1249A>C (p.Met417Leu) c.1087A>C (p.Met363Leu) c.1057A>C (p.Met353Leu) | |
| 5 | g.149883430_149883431delinsTA | CA1590694602 | PDE6A | c.2133_2134delinsTA (p.Val711=) n.2317_2318delinsTA c.1890_1891delinsTA (p.Val630=) c.1587_1588delinsTA (p.Val529=) c.1248_1249delinsTA (p.Val416=) c.1086_1087delinsTA (p.Val362=) c.1056_1057delinsTA (p.Val352=) | |
| 5 | g.149883431A>C | CA447141069 | PDE6A | c.2133T>G (p.Val711=) n.2317T>G c.1890T>G (p.Val630=) c.1587T>G (p.Val529=) c.1248T>G (p.Val416=) c.1086T>G (p.Val362=) c.1056T>G (p.Val352=) | |
| 5 | g.149883431A>G | CA447141067 | PDE6A | c.2133T>C (p.Val711=) n.2317T>C c.1890T>C (p.Val630=) c.1587T>C (p.Val529=) c.1248T>C (p.Val416=) c.1086T>C (p.Val362=) c.1056T>C (p.Val352=) | |
| 5 | g.149883431A>T | CA447141070 | PDE6A | c.2133T>A (p.Val711=) n.2317T>A c.1890T>A (p.Val630=) c.1587T>A (p.Val529=) c.1248T>A (p.Val416=) c.1086T>A (p.Val362=) c.1056T>A (p.Val352=) | |
| 5 | g.149883432del | CA3504406 | PDE6A | c.2133del (p.Met712TrpfsTer3) n.2317del c.1890del (p.Met631TrpfsTer3) c.1587del (p.Met530TrpfsTer3) c.1248del (p.Met417TrpfsTer3) c.1086del (p.Met363TrpfsTer3) c.1056del (p.Met353TrpfsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149883432A>C | CA361692214 | PDE6A | c.2132T>G (p.Val711Gly) n.2316T>G c.1889T>G (p.Val630Gly) c.1586T>G (p.Val529Gly) c.1247T>G (p.Val416Gly) c.1085T>G (p.Val362Gly) c.1055T>G (p.Val352Gly) | |
| 5 | g.149883432A>G | CA361692213 | PDE6A | c.2132T>C (p.Val711Ala) n.2316T>C c.1889T>C (p.Val630Ala) c.1586T>C (p.Val529Ala) c.1247T>C (p.Val416Ala) c.1085T>C (p.Val362Ala) c.1055T>C (p.Val352Ala) | |
| 5 | g.149883432A>T | CA361692212 | PDE6A | c.2132T>A (p.Val711Asp) n.2316T>A c.1889T>A (p.Val630Asp) c.1586T>A (p.Val529Asp) c.1247T>A (p.Val416Asp) c.1085T>A (p.Val362Asp) c.1055T>A (p.Val352Asp) | |
| 5 | g.149883433C>A | CA361692216 | PDE6A | c.2131G>T (p.Val711Phe) n.2315G>T c.1888G>T (p.Val630Phe) c.1585G>T (p.Val529Phe) c.1246G>T (p.Val416Phe) c.1084G>T (p.Val362Phe) c.1054G>T (p.Val352Phe) | |
| 5 | g.149883433C= | CA1590694603 | PDE6A | c.2131G= (p.Val711=) n.2315G= c.1888G= (p.Val630=) c.1585G= (p.Val529=) c.1246G= (p.Val416=) c.1084G= (p.Val362=) c.1054G= (p.Val352=) | |
| 5 | g.149883433C>G | CA361692218 | PDE6A | c.2131G>C (p.Val711Leu) n.2315G>C c.1888G>C (p.Val630Leu) c.1585G>C (p.Val529Leu) c.1246G>C (p.Val416Leu) c.1084G>C (p.Val362Leu) c.1054G>C (p.Val352Leu) | gnomAD v4 |
| 5 | g.149883433C>T | CA3504407 | PDE6A | c.2131G>A (p.Val711Ile) n.2315G>A c.1888G>A (p.Val630Ile) c.1585G>A (p.Val529Ile) c.1246G>A (p.Val416Ile) c.1084G>A (p.Val362Ile) c.1054G>A (p.Val352Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149883434G>A | CA3504408 | PDE6A | c.2130C>T (p.Ile710=) n.2314C>T c.1887C>T (p.Ile629=) c.1584C>T (p.Ile528=) c.1245C>T (p.Ile415=) c.1083C>T (p.Ile361=) c.1053C>T (p.Ile351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149883434G>C | CA361692225 | PDE6A | c.2130C>G (p.Ile710Met) n.2314C>G c.1887C>G (p.Ile629Met) c.1584C>G (p.Ile528Met) c.1245C>G (p.Ile415Met) c.1083C>G (p.Ile361Met) c.1053C>G (p.Ile351Met) | |
| 5 | g.149883434G= | CA1590694604 | PDE6A | c.2130C= (p.Ile710=) n.2314C= c.1887C= (p.Ile629=) c.1584C= (p.Ile528=) c.1245C= (p.Ile415=) c.1083C= (p.Ile361=) c.1053C= (p.Ile351=) | |
| 5 | g.149883434G>T | CA447141073 | PDE6A | c.2130C>A (p.Ile710=) n.2314C>A c.1887C>A (p.Ile629=) c.1584C>A (p.Ile528=) c.1245C>A (p.Ile415=) c.1083C>A (p.Ile361=) c.1053C>A (p.Ile351=) | gnomAD v4 |
| 5 | g.149883435A>C | CA361692227 | PDE6A | c.2129T>G (p.Ile710Ser) n.2313T>G c.1886T>G (p.Ile629Ser) c.1583T>G (p.Ile528Ser) c.1244T>G (p.Ile415Ser) c.1082T>G (p.Ile361Ser) c.1052T>G (p.Ile351Ser) | |
| 5 | g.149883435A>G | CA361692228 | PDE6A | c.2129T>C (p.Ile710Thr) n.2313T>C c.1886T>C (p.Ile629Thr) c.1583T>C (p.Ile528Thr) c.1244T>C (p.Ile415Thr) c.1082T>C (p.Ile361Thr) c.1052T>C (p.Ile351Thr) | |
| 5 | g.149883435A>T | CA361692230 | PDE6A | c.2129T>A (p.Ile710Asn) n.2313T>A c.1886T>A (p.Ile629Asn) c.1583T>A (p.Ile528Asn) c.1244T>A (p.Ile415Asn) c.1082T>A (p.Ile361Asn) c.1052T>A (p.Ile351Asn) | gnomAD v4 |
| 5 | g.149883436T>A | CA361692235 | PDE6A | c.2128A>T (p.Ile710Phe) n.2312A>T c.1885A>T (p.Ile629Phe) c.1582A>T (p.Ile528Phe) c.1243A>T (p.Ile415Phe) c.1081A>T (p.Ile361Phe) c.1051A>T (p.Ile351Phe) | |
| 5 | g.149883436T>C | CA361692236 | PDE6A | c.2128A>G (p.Ile710Val) n.2312A>G c.1885A>G (p.Ile629Val) c.1582A>G (p.Ile528Val) c.1243A>G (p.Ile415Val) c.1081A>G (p.Ile361Val) c.1051A>G (p.Ile351Val) | |
| 5 | g.149883436T>G | CA361692237 | PDE6A | c.2128A>C (p.Ile710Leu) n.2312A>C c.1885A>C (p.Ile629Leu) c.1582A>C (p.Ile528Leu) c.1243A>C (p.Ile415Leu) c.1081A>C (p.Ile361Leu) c.1051A>C (p.Ile351Leu) | |
| 5 | g.149883437T>A | CA361692239 | PDE6A | c.2127A>T (p.Glu709Asp) n.2311A>T c.1884A>T (p.Glu628Asp) c.1581A>T (p.Glu527Asp) c.1242A>T (p.Glu414Asp) c.1080A>T (p.Glu360Asp) c.1050A>T (p.Glu350Asp) | |
| 5 | g.149883437T>C | CA447141075 | PDE6A | c.2127A>G (p.Glu709=) n.2311A>G c.1884A>G (p.Glu628=) c.1581A>G (p.Glu527=) c.1242A>G (p.Glu414=) c.1080A>G (p.Glu360=) c.1050A>G (p.Glu350=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149883437T>G | CA361692240 | PDE6A | c.2127A>C (p.Glu709Asp) n.2311A>C c.1884A>C (p.Glu628Asp) c.1581A>C (p.Glu527Asp) c.1242A>C (p.Glu414Asp) c.1080A>C (p.Glu360Asp) c.1050A>C (p.Glu350Asp) | |
| 5 | g.149883437T= | CA1590694605 | PDE6A | c.2127A= (p.Glu709=) n.2311A= c.1884A= (p.Glu628=) c.1581A= (p.Glu527=) c.1242A= (p.Glu414=) c.1080A= (p.Glu360=) c.1050A= (p.Glu350=) | |
| 5 | g.149883438T>A | CA361692243 | PDE6A | c.2126A>T (p.Glu709Val) n.2310A>T c.1883A>T (p.Glu628Val) c.1580A>T (p.Glu527Val) c.1241A>T (p.Glu414Val) c.1079A>T (p.Glu360Val) c.1049A>T (p.Glu350Val) | |
| 5 | g.149883438T>C | CA361692245 | PDE6A | c.2126A>G (p.Glu709Gly) n.2310A>G c.1883A>G (p.Glu628Gly) c.1580A>G (p.Glu527Gly) c.1241A>G (p.Glu414Gly) c.1079A>G (p.Glu360Gly) c.1049A>G (p.Glu350Gly) | |
| 5 | g.149883438T>G | CA361692242 | PDE6A | c.2126A>C (p.Glu709Ala) n.2310A>C c.1883A>C (p.Glu628Ala) c.1580A>C (p.Glu527Ala) c.1241A>C (p.Glu414Ala) c.1079A>C (p.Glu360Ala) c.1049A>C (p.Glu350Ala) | gnomAD v4 |
| 5 | g.149883439C>A | CA361692247 | PDE6A | c.2125G>T (p.Glu709Ter) n.2309G>T c.1882G>T (p.Glu628Ter) c.1579G>T (p.Glu527Ter) c.1240G>T (p.Glu414Ter) c.1078G>T (p.Glu360Ter) c.1048G>T (p.Glu350Ter) | |
| 5 | g.149883439C= | CA1590694606 | PDE6A | c.2125G= (p.Glu709=) n.2309G= c.1882G= (p.Glu628=) c.1579G= (p.Glu527=) c.1240G= (p.Glu414=) c.1078G= (p.Glu360=) c.1048G= (p.Glu350=) | |
| 5 | g.149883439C>G | CA361692249 | PDE6A | c.2125G>C (p.Glu709Gln) n.2309G>C c.1882G>C (p.Glu628Gln) c.1579G>C (p.Glu527Gln) c.1240G>C (p.Glu414Gln) c.1078G>C (p.Glu360Gln) c.1048G>C (p.Glu350Gln) | |
| 5 | g.149883439C>T | CA3504409 | PDE6A | c.2125G>A (p.Glu709Lys) n.2309G>A c.1882G>A (p.Glu628Lys) c.1579G>A (p.Glu527Lys) c.1240G>A (p.Glu414Lys) c.1078G>A (p.Glu360Lys) c.1048G>A (p.Glu350Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149883440C>A | CA361692252 | PDE6A | c.2124G>T (p.Lys708Asn) n.2308G>T c.1881G>T (p.Lys627Asn) c.1578G>T (p.Lys526Asn) c.1239G>T (p.Lys413Asn) c.1077G>T (p.Lys359Asn) c.1047G>T (p.Lys349Asn) | |
| 5 | g.149883440C= | CA1590694607 | PDE6A | c.2124G= (p.Lys708=) n.2308G= c.1881G= (p.Lys627=) c.1578G= (p.Lys526=) c.1239G= (p.Lys413=) c.1077G= (p.Lys359=) c.1047G= (p.Lys349=) | |
| 5 | g.149883440C>G | CA361692253 | PDE6A | c.2124G>C (p.Lys708Asn) n.2308G>C c.1881G>C (p.Lys627Asn) c.1578G>C (p.Lys526Asn) c.1239G>C (p.Lys413Asn) c.1077G>C (p.Lys359Asn) c.1047G>C (p.Lys349Asn) | |
| 5 | g.149883440C>T | CA447141077 | PDE6A | c.2124G>A (p.Lys708=) n.2308G>A c.1881G>A (p.Lys627=) c.1578G>A (p.Lys526=) c.1239G>A (p.Lys413=) c.1077G>A (p.Lys359=) c.1047G>A (p.Lys349=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149883441T>A | CA361692254 | PDE6A | c.2123A>T (p.Lys708Met) n.2307A>T c.1880A>T (p.Lys627Met) c.1577A>T (p.Lys526Met) c.1238A>T (p.Lys413Met) c.1076A>T (p.Lys359Met) c.1046A>T (p.Lys349Met) | |
| 5 | g.149883441T>C | CA361692256 | PDE6A | c.2123A>G (p.Lys708Arg) n.2307A>G c.1880A>G (p.Lys627Arg) c.1577A>G (p.Lys526Arg) c.1238A>G (p.Lys413Arg) c.1076A>G (p.Lys359Arg) c.1046A>G (p.Lys349Arg) | |
| 5 | g.149883441T>G | CA361692258 | PDE6A | c.2123A>C (p.Lys708Thr) n.2307A>C c.1880A>C (p.Lys627Thr) c.1577A>C (p.Lys526Thr) c.1238A>C (p.Lys413Thr) c.1076A>C (p.Lys359Thr) c.1046A>C (p.Lys349Thr) | |
| 5 | g.149883442T>A | CA361692260 | PDE6A | c.2122A>T (p.Lys708Ter) n.2306A>T c.1879A>T (p.Lys627Ter) c.1576A>T (p.Lys526Ter) c.1237A>T (p.Lys413Ter) c.1075A>T (p.Lys359Ter) c.1045A>T (p.Lys349Ter) | |
| 5 | g.149883442T>C | CA361692261 | PDE6A | c.2122A>G (p.Lys708Glu) n.2306A>G c.1879A>G (p.Lys627Glu) c.1576A>G (p.Lys526Glu) c.1237A>G (p.Lys413Glu) c.1075A>G (p.Lys359Glu) c.1045A>G (p.Lys349Glu) | |
| 5 | g.149883442T>G | CA361692263 | PDE6A | c.2122A>C (p.Lys708Gln) n.2306A>C c.1879A>C (p.Lys627Gln) c.1576A>C (p.Lys526Gln) c.1237A>C (p.Lys413Gln) c.1075A>C (p.Lys359Gln) c.1045A>C (p.Lys349Gln) | |
| 5 | g.149883443_149883465del | CA2675938667 | PDE6A | c.2100_2122del (p.Tyr700Ter) n.2284_2306del c.1857_1879del (p.Tyr619Ter) c.1554_1576del (p.Tyr518Ter) c.1215_1237del (p.Tyr405Ter) c.1053_1075del (p.Tyr351Ter) c.1023_1045del (p.Tyr341Ter) | gnomAD v4 |
| 5 | g.149883442_149883443insTTGGAGG | CA2553044789 | PDE6A | c.2121_2122insCCTCCAA (p.Lys708ProfsTer15) n.2305_2306insCCTCCAA c.1878_1879insCCTCCAA (p.Lys627ProfsTer15) c.1575_1576insCCTCCAA (p.Lys526ProfsTer15) c.1236_1237insCCTCCAA (p.Lys413ProfsTer15) c.1074_1075insCCTCCAA (p.Lys359ProfsTer15) c.1044_1045insCCTCCAA (p.Lys349ProfsTer15) | |
| 5 | g.149883443C>A | CA447141078 | PDE6A | c.2121G>T (p.Arg707=) n.2305G>T c.1878G>T (p.Arg626=) c.1575G>T (p.Arg525=) c.1236G>T (p.Arg412=) c.1074G>T (p.Arg358=) c.1044G>T (p.Arg348=) | |
| 5 | g.149883443C>G | CA447141079 | PDE6A | c.2121G>C (p.Arg707=) n.2305G>C c.1878G>C (p.Arg626=) c.1575G>C (p.Arg525=) c.1236G>C (p.Arg412=) c.1074G>C (p.Arg358=) c.1044G>C (p.Arg348=) | |
| 5 | g.149883443C>T | CA447141080 | PDE6A | c.2121G>A (p.Arg707=) n.2305G>A c.1878G>A (p.Arg626=) c.1575G>A (p.Arg525=) c.1236G>A (p.Arg412=) c.1074G>A (p.Arg358=) c.1044G>A (p.Arg348=) | gnomAD v4 |
| 5 | g.149883444C>A | CA361692267 | PDE6A | c.2120G>T (p.Arg707Leu) n.2304G>T c.1877G>T (p.Arg626Leu) c.1574G>T (p.Arg525Leu) c.1235G>T (p.Arg412Leu) c.1073G>T (p.Arg358Leu) c.1043G>T (p.Arg348Leu) | |
| 5 | g.149883444C= | CA1590694608 | PDE6A | c.2120G= (p.Arg707=) n.2304G= c.1877G= (p.Arg626=) c.1574G= (p.Arg525=) c.1235G= (p.Arg412=) c.1073G= (p.Arg358=) c.1043G= (p.Arg348=) | |
| 5 | g.149883444C>G | CA361692265 | PDE6A | c.2120G>C (p.Arg707Pro) n.2304G>C c.1877G>C (p.Arg626Pro) c.1574G>C (p.Arg525Pro) c.1235G>C (p.Arg412Pro) c.1073G>C (p.Arg358Pro) c.1043G>C (p.Arg348Pro) | |
| 5 | g.149883444C>T | CA3504410 | PDE6A | c.2120G>A (p.Arg707Gln) n.2304G>A c.1877G>A (p.Arg626Gln) c.1574G>A (p.Arg525Gln) c.1235G>A (p.Arg412Gln) c.1073G>A (p.Arg358Gln) c.1043G>A (p.Arg348Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149883445G>A | CA3504411 | PDE6A | c.2119C>T (p.Arg707Trp) n.2303C>T c.1876C>T (p.Arg626Trp) c.1573C>T (p.Arg525Trp) c.1234C>T (p.Arg412Trp) c.1072C>T (p.Arg358Trp) c.1042C>T (p.Arg348Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149883445G>C | CA361692269 | PDE6A | c.2119C>G (p.Arg707Gly) n.2303C>G c.1876C>G (p.Arg626Gly) c.1573C>G (p.Arg525Gly) c.1234C>G (p.Arg412Gly) c.1072C>G (p.Arg358Gly) c.1042C>G (p.Arg348Gly) | gnomAD v4 |
| 5 | g.149883445G= | CA1590694610 | PDE6A | c.2119C= (p.Arg707=) n.2303C= c.1876C= (p.Arg626=) c.1573C= (p.Arg525=) c.1234C= (p.Arg412=) c.1072C= (p.Arg358=) c.1042C= (p.Arg348=) | |
| 5 | g.149883445G>T | CA447141081 | PDE6A | c.2119C>A (p.Arg707=) n.2303C>A c.1876C>A (p.Arg626=) c.1573C>A (p.Arg525=) c.1234C>A (p.Arg412=) c.1072C>A (p.Arg358=) c.1042C>A (p.Arg348=) | gnomAD v4 |
| 5 | g.149883445_149883446delinsGT | CA1590694609 | PDE6A | c.2118_2119delinsAC (p.Thr706=) n.2302_2303delinsAC c.1875_1876delinsAC (p.Thr625=) c.1572_1573delinsAC (p.Thr524=) c.1233_1234delinsAC (p.Thr411=) c.1071_1072delinsAC (p.Thr357=) c.1041_1042delinsAC (p.Thr347=) | |
| 5 | g.149883446del | CA1139659168 | PDE6A | c.2118del (p.Arg707GlyfsTer8) n.2302del c.1875del (p.Arg626GlyfsTer8) c.1572del (p.Arg525GlyfsTer8) c.1233del (p.Arg412GlyfsTer8) c.1071del (p.Arg358GlyfsTer8) c.1041del (p.Arg348GlyfsTer8) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149883446T>A | CA447141082 | PDE6A | c.2118A>T (p.Thr706=) n.2302A>T c.1875A>T (p.Thr625=) c.1572A>T (p.Thr524=) c.1233A>T (p.Thr411=) c.1071A>T (p.Thr357=) c.1041A>T (p.Thr347=) | |
| 5 | g.149883446T>C | CA447141083 | PDE6A | c.2118A>G (p.Thr706=) n.2302A>G c.1875A>G (p.Thr625=) c.1572A>G (p.Thr524=) c.1233A>G (p.Thr411=) c.1071A>G (p.Thr357=) c.1041A>G (p.Thr347=) | |
| 5 | g.149883446T>G | CA447141084 | PDE6A | c.2118A>C (p.Thr706=) n.2302A>C c.1875A>C (p.Thr625=) c.1572A>C (p.Thr524=) c.1233A>C (p.Thr411=) c.1071A>C (p.Thr357=) c.1041A>C (p.Thr347=) | |
| 5 | g.149883447G>A | CA361692271 | PDE6A | c.2117C>T (p.Thr706Ile) n.2301C>T c.1874C>T (p.Thr625Ile) c.1571C>T (p.Thr524Ile) c.1232C>T (p.Thr411Ile) c.1070C>T (p.Thr357Ile) c.1040C>T (p.Thr347Ile) | dbSNP gnomAD v4 |
| 5 | g.149883447G>C | CA361692272 | PDE6A | c.2117C>G (p.Thr706Arg) n.2301C>G c.1874C>G (p.Thr625Arg) c.1571C>G (p.Thr524Arg) c.1232C>G (p.Thr411Arg) c.1070C>G (p.Thr357Arg) c.1040C>G (p.Thr347Arg) | |
| 5 | g.149883447G= | CA1590694611 | PDE6A | c.2117C= (p.Thr706=) n.2301C= c.1874C= (p.Thr625=) c.1571C= (p.Thr524=) c.1232C= (p.Thr411=) c.1070C= (p.Thr357=) c.1040C= (p.Thr347=) | |
| 5 | g.149883447G>T | CA361692274 | PDE6A | c.2117C>A (p.Thr706Lys) n.2301C>A c.1874C>A (p.Thr625Lys) c.1571C>A (p.Thr524Lys) c.1232C>A (p.Thr411Lys) c.1070C>A (p.Thr357Lys) c.1040C>A (p.Thr347Lys) | gnomAD v4 |
| 5 | g.149883448T>A | CA361692276 | PDE6A | c.2116A>T (p.Thr706Ser) n.2300A>T c.1873A>T (p.Thr625Ser) c.1570A>T (p.Thr524Ser) c.1231A>T (p.Thr411Ser) c.1069A>T (p.Thr357Ser) c.1039A>T (p.Thr347Ser) | |
| 5 | g.149883448T>C | CA361692277 | PDE6A | c.2116A>G (p.Thr706Ala) n.2300A>G c.1873A>G (p.Thr625Ala) c.1570A>G (p.Thr524Ala) c.1231A>G (p.Thr411Ala) c.1069A>G (p.Thr357Ala) c.1039A>G (p.Thr347Ala) | |
| 5 | g.149883448T>G | CA361692279 | PDE6A | c.2116A>C (p.Thr706Pro) n.2300A>C c.1873A>C (p.Thr625Pro) c.1570A>C (p.Thr524Pro) c.1231A>C (p.Thr411Pro) c.1069A>C (p.Thr357Pro) c.1039A>C (p.Thr347Pro) | |
| 5 | g.149883449C>A | CA361692281 | PDE6A | c.2115G>T (p.Gln705His) n.2299G>T c.1872G>T (p.Gln624His) c.1569G>T (p.Gln523His) c.1230G>T (p.Gln410His) c.1068G>T (p.Gln356His) c.1038G>T (p.Gln346His) | |
| 5 | g.149883449C>G | CA361692283 | PDE6A | c.2115G>C (p.Gln705His) n.2299G>C c.1872G>C (p.Gln624His) c.1569G>C (p.Gln523His) c.1230G>C (p.Gln410His) c.1068G>C (p.Gln356His) c.1038G>C (p.Gln346His) | |
| 5 | g.149883449C>T | CA447141085 | PDE6A | c.2115G>A (p.Gln705=) n.2299G>A c.1872G>A (p.Gln624=) c.1569G>A (p.Gln523=) c.1230G>A (p.Gln410=) c.1068G>A (p.Gln356=) c.1038G>A (p.Gln346=) | |
| 5 | g.149883450T>A | CA361692285 | PDE6A | c.2114A>T (p.Gln705Leu) n.2298A>T c.1871A>T (p.Gln624Leu) c.1568A>T (p.Gln523Leu) c.1229A>T (p.Gln410Leu) c.1067A>T (p.Gln356Leu) c.1037A>T (p.Gln346Leu) | |
| 5 | g.149883450T>C | CA361692286 | PDE6A | c.2114A>G (p.Gln705Arg) n.2298A>G c.1871A>G (p.Gln624Arg) c.1568A>G (p.Gln523Arg) c.1229A>G (p.Gln410Arg) c.1067A>G (p.Gln356Arg) c.1037A>G (p.Gln346Arg) | gnomAD v4 |
| 5 | g.149883450T>G | CA361692288 | PDE6A | c.2114A>C (p.Gln705Pro) n.2298A>C c.1871A>C (p.Gln624Pro) c.1568A>C (p.Gln523Pro) c.1229A>C (p.Gln410Pro) c.1067A>C (p.Gln356Pro) c.1037A>C (p.Gln346Pro) | |
| 5 | g.149883451G>A | CA361692292 | PDE6A | c.2113C>T (p.Gln705Ter) n.2297C>T c.1870C>T (p.Gln624Ter) c.1567C>T (p.Gln523Ter) c.1228C>T (p.Gln410Ter) c.1066C>T (p.Gln356Ter) c.1036C>T (p.Gln346Ter) | gnomAD v4 |
| 5 | g.149883451G>C | CA361692293 | PDE6A | c.2113C>G (p.Gln705Glu) n.2297C>G c.1870C>G (p.Gln624Glu) c.1567C>G (p.Gln523Glu) c.1228C>G (p.Gln410Glu) c.1066C>G (p.Gln356Glu) c.1036C>G (p.Gln346Glu) | |
| 5 | g.149883451G>T | CA361692290 | PDE6A | c.2113C>A (p.Gln705Lys) n.2297C>A c.1870C>A (p.Gln624Lys) c.1567C>A (p.Gln523Lys) c.1228C>A (p.Gln410Lys) c.1066C>A (p.Gln356Lys) c.1036C>A (p.Gln346Lys) | gnomAD v4 |
| 5 | g.149883452C>A | CA361692296 | PDE6A | c.2112G>T (p.Glu704Asp) n.2296G>T c.1869G>T (p.Glu623Asp) c.1566G>T (p.Glu522Asp) c.1227G>T (p.Glu409Asp) c.1065G>T (p.Glu355Asp) c.1035G>T (p.Glu345Asp) | |
| 5 | g.149883452C>G | CA361692294 | PDE6A | c.2112G>C (p.Glu704Asp) n.2296G>C c.1869G>C (p.Glu623Asp) c.1566G>C (p.Glu522Asp) c.1227G>C (p.Glu409Asp) c.1065G>C (p.Glu355Asp) c.1035G>C (p.Glu345Asp) | |
| 5 | g.149883452C>T | CA447141086 | PDE6A | c.2112G>A (p.Glu704=) n.2296G>A c.1869G>A (p.Glu623=) c.1566G>A (p.Glu522=) c.1227G>A (p.Glu409=) c.1065G>A (p.Glu355=) c.1035G>A (p.Glu345=) | |
| 5 | g.149883453T>A | CA361692301 | PDE6A | c.2111A>T (p.Glu704Val) n.2295A>T c.1868A>T (p.Glu623Val) c.1565A>T (p.Glu522Val) c.1226A>T (p.Glu409Val) c.1064A>T (p.Glu355Val) c.1034A>T (p.Glu345Val) | |
| 5 | g.149883453T>C | CA361692298 | PDE6A | c.2111A>G (p.Glu704Gly) n.2295A>G c.1868A>G (p.Glu623Gly) c.1565A>G (p.Glu522Gly) c.1226A>G (p.Glu409Gly) c.1064A>G (p.Glu355Gly) c.1034A>G (p.Glu345Gly) | |
| 5 | g.149883453T>G | CA361692300 | PDE6A | c.2111A>C (p.Glu704Ala) n.2295A>C c.1868A>C (p.Glu623Ala) c.1565A>C (p.Glu522Ala) c.1226A>C (p.Glu409Ala) c.1064A>C (p.Glu355Ala) c.1034A>C (p.Glu345Ala) | |
| 5 | g.149883454C>A | CA361692302 | PDE6A | c.2110G>T (p.Glu704Ter) n.2294G>T c.1867G>T (p.Glu623Ter) c.1564G>T (p.Glu522Ter) c.1225G>T (p.Glu409Ter) c.1063G>T (p.Glu355Ter) c.1033G>T (p.Glu345Ter) | |
| 5 | g.149883454C= | CA1590694612 | PDE6A | c.2110G= (p.Glu704=) n.2294G= c.1867G= (p.Glu623=) c.1564G= (p.Glu522=) c.1225G= (p.Glu409=) c.1063G= (p.Glu355=) c.1033G= (p.Glu345=) | |
| 5 | g.149883454C>G | CA361692303 | PDE6A | c.2110G>C (p.Glu704Gln) n.2294G>C c.1867G>C (p.Glu623Gln) c.1564G>C (p.Glu522Gln) c.1225G>C (p.Glu409Gln) c.1063G>C (p.Glu355Gln) c.1033G>C (p.Glu345Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149883454C>T | CA361692304 | PDE6A | c.2110G>A (p.Glu704Lys) n.2294G>A c.1867G>A (p.Glu623Lys) c.1564G>A (p.Glu522Lys) c.1225G>A (p.Glu409Lys) c.1063G>A (p.Glu355Lys) c.1033G>A (p.Glu345Lys) | |
| 5 | g.149883455C>A | CA447141087 | PDE6A | c.2109G>T (p.Leu703=) n.2293G>T c.1866G>T (p.Leu622=) c.1563G>T (p.Leu521=) c.1224G>T (p.Leu408=) c.1062G>T (p.Leu354=) c.1032G>T (p.Leu344=) | gnomAD v4 |
| 5 | g.149883455C>G | CA447141088 | PDE6A | c.2109G>C (p.Leu703=) n.2293G>C c.1866G>C (p.Leu622=) c.1563G>C (p.Leu521=) c.1224G>C (p.Leu408=) c.1062G>C (p.Leu354=) c.1032G>C (p.Leu344=) | |
| 5 | g.149883455C>T | CA447141089 | PDE6A | c.2109G>A (p.Leu703=) n.2293G>A c.1866G>A (p.Leu622=) c.1563G>A (p.Leu521=) c.1224G>A (p.Leu408=) c.1062G>A (p.Leu354=) c.1032G>A (p.Leu344=) | gnomAD v4 |
| 5 | g.149883456A>C | CA361692305 | PDE6A | c.2108T>G (p.Leu703Arg) n.2292T>G c.1865T>G (p.Leu622Arg) c.1562T>G (p.Leu521Arg) c.1223T>G (p.Leu408Arg) c.1061T>G (p.Leu354Arg) c.1031T>G (p.Leu344Arg) | |
| 5 | g.149883456A>G | CA361692307 | PDE6A | c.2108T>C (p.Leu703Pro) n.2292T>C c.1865T>C (p.Leu622Pro) c.1562T>C (p.Leu521Pro) c.1223T>C (p.Leu408Pro) c.1061T>C (p.Leu354Pro) c.1031T>C (p.Leu344Pro) | gnomAD v4 |
| 5 | g.149883456A>T | CA361692309 | PDE6A | c.2108T>A (p.Leu703Gln) n.2292T>A c.1865T>A (p.Leu622Gln) c.1562T>A (p.Leu521Gln) c.1223T>A (p.Leu408Gln) c.1061T>A (p.Leu354Gln) c.1031T>A (p.Leu344Gln) | |
| 5 | g.149883457G>A | CA447141090 | PDE6A | c.2107C>T (p.Leu703=) n.2291C>T c.1864C>T (p.Leu622=) c.1561C>T (p.Leu521=) c.1222C>T (p.Leu408=) c.1060C>T (p.Leu354=) c.1030C>T (p.Leu344=) | |
| 5 | g.149883457G>C | CA361692312 | PDE6A | c.2107C>G (p.Leu703Val) n.2291C>G c.1864C>G (p.Leu622Val) c.1561C>G (p.Leu521Val) c.1222C>G (p.Leu408Val) c.1060C>G (p.Leu354Val) c.1030C>G (p.Leu344Val) | gnomAD v4 |
| 5 | g.149883457G>T | CA361692318 | PDE6A | c.2107C>A (p.Leu703Met) n.2291C>A c.1864C>A (p.Leu622Met) c.1561C>A (p.Leu521Met) c.1222C>A (p.Leu408Met) c.1060C>A (p.Leu354Met) c.1030C>A (p.Leu344Met) | |
| 5 | g.149883458C>A | CA361692320 | PDE6A | c.2106G>T (p.Met702Ile) n.2290G>T c.1863G>T (p.Met621Ile) c.1560G>T (p.Met520Ile) c.1221G>T (p.Met407Ile) c.1059G>T (p.Met353Ile) c.1029G>T (p.Met343Ile) | |
| 5 | g.149883458C= | CA1590694613 | PDE6A | c.2106G= (p.Met702=) n.2290G= c.1863G= (p.Met621=) c.1560G= (p.Met520=) c.1221G= (p.Met407=) c.1059G= (p.Met353=) c.1029G= (p.Met343=) | |
| 5 | g.149883458C>G | CA361692322 | PDE6A | c.2106G>C (p.Met702Ile) n.2290G>C c.1863G>C (p.Met621Ile) c.1560G>C (p.Met520Ile) c.1221G>C (p.Met407Ile) c.1059G>C (p.Met353Ile) c.1029G>C (p.Met343Ile) | |
| 5 | g.149883458C>T | CA3504412 | PDE6A | c.2106G>A (p.Met702Ile) n.2290G>A c.1863G>A (p.Met621Ile) c.1560G>A (p.Met520Ile) c.1221G>A (p.Met407Ile) c.1059G>A (p.Met353Ile) c.1029G>A (p.Met343Ile) | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.149883459A= | CA1590694614 | PDE6A | c.2105T= (p.Met702=) n.2289T= c.1862T= (p.Met621=) c.1559T= (p.Met520=) c.1220T= (p.Met407=) c.1058T= (p.Met353=) c.1028T= (p.Met343=) | |
| 5 | g.149883459A>C | CA361692329 | PDE6A | c.2105T>G (p.Met702Arg) n.2289T>G c.1862T>G (p.Met621Arg) c.1559T>G (p.Met520Arg) c.1220T>G (p.Met407Arg) c.1058T>G (p.Met353Arg) c.1028T>G (p.Met343Arg) | |
| 5 | g.149883459A>G | CA361692323 | PDE6A | c.2105T>C (p.Met702Thr) n.2289T>C c.1862T>C (p.Met621Thr) c.1559T>C (p.Met520Thr) c.1220T>C (p.Met407Thr) c.1058T>C (p.Met353Thr) c.1028T>C (p.Met343Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149883459A>T | CA361692328 | PDE6A | c.2105T>A (p.Met702Lys) n.2289T>A c.1862T>A (p.Met621Lys) c.1559T>A (p.Met520Lys) c.1220T>A (p.Met407Lys) c.1058T>A (p.Met353Lys) c.1028T>A (p.Met343Lys) | |
| 5 | g.149883460T>A | CA361692332 | PDE6A | c.2104A>T (p.Met702Leu) n.2288A>T c.1861A>T (p.Met621Leu) c.1558A>T (p.Met520Leu) c.1219A>T (p.Met407Leu) c.1057A>T (p.Met353Leu) c.1027A>T (p.Met343Leu) | |
| 5 | g.149883460T>C | CA361692339 | PDE6A | c.2104A>G (p.Met702Val) n.2288A>G c.1861A>G (p.Met621Val) c.1558A>G (p.Met520Val) c.1219A>G (p.Met407Val) c.1057A>G (p.Met353Val) c.1027A>G (p.Met343Val) | |
| 5 | g.149883460T>G | CA361692342 | PDE6A | c.2104A>C (p.Met702Leu) n.2288A>C c.1861A>C (p.Met621Leu) c.1558A>C (p.Met520Leu) c.1219A>C (p.Met407Leu) c.1057A>C (p.Met353Leu) c.1027A>C (p.Met343Leu) | |
| 5 | g.149883461C>A | CA361692350 | PDE6A | c.2103G>T (p.Met701Ile) n.2287G>T c.1860G>T (p.Met620Ile) c.1557G>T (p.Met519Ile) c.1218G>T (p.Met406Ile) c.1056G>T (p.Met352Ile) c.1026G>T (p.Met342Ile) | |
| 5 | g.149883461C>G | CA361692353 | PDE6A | c.2103G>C (p.Met701Ile) n.2287G>C c.1860G>C (p.Met620Ile) c.1557G>C (p.Met519Ile) c.1218G>C (p.Met406Ile) c.1056G>C (p.Met352Ile) c.1026G>C (p.Met342Ile) | |
| 5 | g.149883461C>T | CA361692356 | PDE6A | c.2103G>A (p.Met701Ile) n.2287G>A c.1860G>A (p.Met620Ile) c.1557G>A (p.Met519Ile) c.1218G>A (p.Met406Ile) c.1056G>A (p.Met352Ile) c.1026G>A (p.Met342Ile) | gnomAD v4 |
| 5 | g.149883462A>C | CA361692358 | PDE6A | c.2102T>G (p.Met701Arg) n.2286T>G c.1859T>G (p.Met620Arg) c.1556T>G (p.Met519Arg) c.1217T>G (p.Met406Arg) c.1055T>G (p.Met352Arg) c.1025T>G (p.Met342Arg) | |
| 5 | g.149883462A>G | CA361692359 | PDE6A | c.2102T>C (p.Met701Thr) n.2286T>C c.1859T>C (p.Met620Thr) c.1556T>C (p.Met519Thr) c.1217T>C (p.Met406Thr) c.1055T>C (p.Met352Thr) c.1025T>C (p.Met342Thr) | gnomAD v4 |
| 5 | g.149883462A>T | CA361692362 | PDE6A | c.2102T>A (p.Met701Lys) n.2286T>A c.1859T>A (p.Met620Lys) c.1556T>A (p.Met519Lys) c.1217T>A (p.Met406Lys) c.1055T>A (p.Met352Lys) c.1025T>A (p.Met342Lys) | |
| 5 | g.149883463T>A | CA361692363 | PDE6A | c.2101A>T (p.Met701Leu) n.2285A>T c.1858A>T (p.Met620Leu) c.1555A>T (p.Met519Leu) c.1216A>T (p.Met406Leu) c.1054A>T (p.Met352Leu) c.1024A>T (p.Met342Leu) | dbSNP |
| 5 | g.149883463T>C | CA129059216 | PDE6A | c.2101A>G (p.Met701Val) n.2285A>G c.1858A>G (p.Met620Val) c.1555A>G (p.Met519Val) c.1216A>G (p.Met406Val) c.1054A>G (p.Met352Val) c.1024A>G (p.Met342Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149883463T>G | CA361692367 | PDE6A | c.2101A>C (p.Met701Leu) n.2285A>C c.1858A>C (p.Met620Leu) c.1555A>C (p.Met519Leu) c.1216A>C (p.Met406Leu) c.1054A>C (p.Met352Leu) c.1024A>C (p.Met342Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149883463T= | CA1590694615 | PDE6A | c.2101A= (p.Met701=) n.2285A= c.1858A= (p.Met620=) c.1555A= (p.Met519=) c.1216A= (p.Met406=) c.1054A= (p.Met352=) c.1024A= (p.Met342=) | |
| 5 | g.149883464G>A | CA447141091 | PDE6A | c.2100C>T (p.Tyr700=) n.2284C>T c.1857C>T (p.Tyr619=) c.1554C>T (p.Tyr518=) c.1215C>T (p.Tyr405=) c.1053C>T (p.Tyr351=) c.1023C>T (p.Tyr341=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149883464G>C | CA361692368 | PDE6A | c.2100C>G (p.Tyr700Ter) n.2284C>G c.1857C>G (p.Tyr619Ter) c.1554C>G (p.Tyr518Ter) c.1215C>G (p.Tyr405Ter) c.1053C>G (p.Tyr351Ter) c.1023C>G (p.Tyr341Ter) | |
| 5 | g.149883464G= | CA1590694616 | PDE6A | c.2100C= (p.Tyr700=) n.2284C= c.1857C= (p.Tyr619=) c.1554C= (p.Tyr518=) c.1215C= (p.Tyr405=) c.1053C= (p.Tyr351=) c.1023C= (p.Tyr341=) | |
| 5 | g.149883464G>T | CA361692370 | PDE6A | c.2100C>A (p.Tyr700Ter) n.2284C>A c.1857C>A (p.Tyr619Ter) c.1554C>A (p.Tyr518Ter) c.1215C>A (p.Tyr405Ter) c.1053C>A (p.Tyr351Ter) c.1023C>A (p.Tyr341Ter) | |
| 5 | g.149883465T>A | CA361692374 | PDE6A | c.2099A>T (p.Tyr700Phe) n.2283A>T c.1856A>T (p.Tyr619Phe) c.1553A>T (p.Tyr518Phe) c.1214A>T (p.Tyr405Phe) c.1052A>T (p.Tyr351Phe) c.1022A>T (p.Tyr341Phe) | |
| 5 | g.149883465T>C | CA361692376 | PDE6A | c.2099A>G (p.Tyr700Cys) n.2283A>G c.1856A>G (p.Tyr619Cys) c.1553A>G (p.Tyr518Cys) c.1214A>G (p.Tyr405Cys) c.1052A>G (p.Tyr351Cys) c.1022A>G (p.Tyr341Cys) | |
| 5 | g.149883465T>G | CA361692377 | PDE6A | c.2099A>C (p.Tyr700Ser) n.2283A>C c.1856A>C (p.Tyr619Ser) c.1553A>C (p.Tyr518Ser) c.1214A>C (p.Tyr405Ser) c.1052A>C (p.Tyr351Ser) c.1022A>C (p.Tyr341Ser) | |
| 5 | g.149883466A= | CA1590694617 | PDE6A | c.2098T= (p.Tyr700=) n.2282T= c.1855T= (p.Tyr619=) c.1552T= (p.Tyr518=) c.1213T= (p.Tyr405=) c.1051T= (p.Tyr351=) c.1021T= (p.Tyr341=) | |
| 5 | g.149883466A>C | CA361692380 | PDE6A | c.2098T>G (p.Tyr700Asp) n.2282T>G c.1855T>G (p.Tyr619Asp) c.1552T>G (p.Tyr518Asp) c.1213T>G (p.Tyr405Asp) c.1051T>G (p.Tyr351Asp) c.1021T>G (p.Tyr341Asp) | |
| 5 | g.149883466A>G | CA361692381 | PDE6A | c.2098T>C (p.Tyr700His) n.2282T>C c.1855T>C (p.Tyr619His) c.1552T>C (p.Tyr518His) c.1213T>C (p.Tyr405His) c.1051T>C (p.Tyr351His) c.1021T>C (p.Tyr341His) | ClinVar dbSNP |
| 5 | g.149883466A>T | CA361692383 | PDE6A | c.2098T>A (p.Tyr700Asn) n.2282T>A c.1855T>A (p.Tyr619Asn) c.1552T>A (p.Tyr518Asn) c.1213T>A (p.Tyr405Asn) c.1051T>A (p.Tyr351Asn) c.1021T>A (p.Tyr341Asn) | |
| 5 | g.149883466dup | CA2573332091 | PDE6A | c.2098dup (p.Tyr700LeufsTer21) n.2282dup c.1855dup (p.Tyr619LeufsTer21) c.1552dup (p.Tyr518LeufsTer21) c.1213dup (p.Tyr405LeufsTer21) c.1051dup (p.Tyr351LeufsTer21) c.1021dup (p.Tyr341LeufsTer21) | |
| 5 | g.149883467C>A | CA361692385 | PDE6A | c.2097G>T (p.Gln699His) n.2281G>T c.1854G>T (p.Gln618His) c.1551G>T (p.Gln517His) c.1212G>T (p.Gln404His) c.1050G>T (p.Gln350His) c.1020G>T (p.Gln340His) | |
| 5 | g.149883467C>G | CA361692384 | PDE6A | c.2097G>C (p.Gln699His) n.2281G>C c.1854G>C (p.Gln618His) c.1551G>C (p.Gln517His) c.1212G>C (p.Gln404His) c.1050G>C (p.Gln350His) c.1020G>C (p.Gln340His) | |
| 5 | g.149883467C>T | CA447141092 | PDE6A | c.2097G>A (p.Gln699=) n.2281G>A c.1854G>A (p.Gln618=) c.1551G>A (p.Gln517=) c.1212G>A (p.Gln404=) c.1050G>A (p.Gln350=) c.1020G>A (p.Gln340=) | gnomAD v4 COSMIC |
| 5 | g.149883468T>A | CA129059218 | PDE6A | c.2096A>T (p.Gln699Leu) n.2280A>T c.1853A>T (p.Gln618Leu) c.1550A>T (p.Gln517Leu) c.1211A>T (p.Gln404Leu) c.1049A>T (p.Gln350Leu) c.1019A>T (p.Gln340Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149883468T>C | CA361692388 | PDE6A | c.2096A>G (p.Gln699Arg) n.2280A>G c.1853A>G (p.Gln618Arg) c.1550A>G (p.Gln517Arg) c.1211A>G (p.Gln404Arg) c.1049A>G (p.Gln350Arg) c.1019A>G (p.Gln340Arg) | |
| 5 | g.149883468T>G | CA361692389 | PDE6A | c.2096A>C (p.Gln699Pro) n.2280A>C c.1853A>C (p.Gln618Pro) c.1550A>C (p.Gln517Pro) c.1211A>C (p.Gln404Pro) c.1049A>C (p.Gln350Pro) c.1019A>C (p.Gln340Pro) | |
| 5 | g.149883468T= | CA1590694618 | PDE6A | c.2096A= (p.Gln699=) n.2280A= c.1853A= (p.Gln618=) c.1550A= (p.Gln517=) c.1211A= (p.Gln404=) c.1049A= (p.Gln350=) c.1019A= (p.Gln340=) | |
| 5 | g.149883469G>A | CA3504414 | PDE6A | c.2095C>T (p.Gln699Ter) n.2279C>T c.1852C>T (p.Gln618Ter) c.1549C>T (p.Gln517Ter) c.1210C>T (p.Gln404Ter) c.1048C>T (p.Gln350Ter) c.1018C>T (p.Gln340Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149883469G>C | CA129059227 | PDE6A | c.2095C>G (p.Gln699Glu) n.2279C>G c.1852C>G (p.Gln618Glu) c.1549C>G (p.Gln517Glu) c.1210C>G (p.Gln404Glu) c.1048C>G (p.Gln350Glu) c.1018C>G (p.Gln340Glu) | dbSNP |
| 5 | g.149883469G= | CA1590694619 | PDE6A | c.2095C= (p.Gln699=) n.2279C= c.1852C= (p.Gln618=) c.1549C= (p.Gln517=) c.1210C= (p.Gln404=) c.1048C= (p.Gln350=) c.1018C= (p.Gln340=) | |
| 5 | g.149883469G>T | CA3504413 | PDE6A | c.2095C>A (p.Gln699Lys) n.2279C>A c.1852C>A (p.Gln618Lys) c.1549C>A (p.Gln517Lys) c.1210C>A (p.Gln404Lys) c.1048C>A (p.Gln350Lys) c.1018C>A (p.Gln340Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149883470T>A | CA447141093 | PDE6A | c.2094A>T (p.Thr698=) n.2278A>T c.1851A>T (p.Thr617=) c.1548A>T (p.Thr516=) c.1209A>T (p.Thr403=) c.1047A>T (p.Thr349=) c.1017A>T (p.Thr339=) | |
| 5 | g.149883470T>C | CA447141094 | PDE6A | c.2094A>G (p.Thr698=) n.2278A>G c.1851A>G (p.Thr617=) c.1548A>G (p.Thr516=) c.1209A>G (p.Thr403=) c.1047A>G (p.Thr349=) c.1017A>G (p.Thr339=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149883470T>G | CA447141095 | PDE6A | c.2094A>C (p.Thr698=) n.2278A>C c.1851A>C (p.Thr617=) c.1548A>C (p.Thr516=) c.1209A>C (p.Thr403=) c.1047A>C (p.Thr349=) c.1017A>C (p.Thr339=) | |
| 5 | g.149883470T= | CA1590694620 | PDE6A | c.2094A= (p.Thr698=) n.2278A= c.1851A= (p.Thr617=) c.1548A= (p.Thr516=) c.1209A= (p.Thr403=) c.1047A= (p.Thr349=) c.1017A= (p.Thr339=) | |
| 5 | g.149883471G>A | CA361692394 | PDE6A | c.2093C>T (p.Thr698Ile) n.2277C>T c.1850C>T (p.Thr617Ile) c.1547C>T (p.Thr516Ile) c.1208C>T (p.Thr403Ile) c.1046C>T (p.Thr349Ile) c.1016C>T (p.Thr339Ile) | |
| 5 | g.149883471G>C | CA361692397 | PDE6A | c.2093C>G (p.Thr698Arg) n.2277C>G c.1850C>G (p.Thr617Arg) c.1547C>G (p.Thr516Arg) c.1208C>G (p.Thr403Arg) c.1046C>G (p.Thr349Arg) c.1016C>G (p.Thr339Arg) | |
| 5 | g.149883471G>T | CA361692395 | PDE6A | c.2093C>A (p.Thr698Lys) n.2277C>A c.1850C>A (p.Thr617Lys) c.1547C>A (p.Thr516Lys) c.1208C>A (p.Thr403Lys) c.1046C>A (p.Thr349Lys) c.1016C>A (p.Thr339Lys) | |
| 5 | g.149883472T>A | CA361692399 | PDE6A | c.2092A>T (p.Thr698Ser) n.2276A>T c.1849A>T (p.Thr617Ser) c.1546A>T (p.Thr516Ser) c.1207A>T (p.Thr403Ser) c.1045A>T (p.Thr349Ser) c.1015A>T (p.Thr339Ser) | |
| 5 | g.149883472T>C | CA361692402 | PDE6A | c.2092A>G (p.Thr698Ala) n.2276A>G c.1849A>G (p.Thr617Ala) c.1546A>G (p.Thr516Ala) c.1207A>G (p.Thr403Ala) c.1045A>G (p.Thr349Ala) c.1015A>G (p.Thr339Ala) | |
| 5 | g.149883472T>G | CA361692403 | PDE6A | c.2092A>C (p.Thr698Pro) n.2276A>C c.1849A>C (p.Thr617Pro) c.1546A>C (p.Thr516Pro) c.1207A>C (p.Thr403Pro) c.1045A>C (p.Thr349Pro) c.1015A>C (p.Thr339Pro) | |
| 5 | g.149883473C>A | CA361692405 | PDE6A | c.2091G>T (p.Trp697Cys) n.2275G>T c.1848G>T (p.Trp616Cys) c.1545G>T (p.Trp515Cys) c.1206G>T (p.Trp402Cys) c.1044G>T (p.Trp348Cys) c.1014G>T (p.Trp338Cys) | |
| 5 | g.149883473C>G | CA361692408 | PDE6A | c.2091G>C (p.Trp697Cys) n.2275G>C c.1848G>C (p.Trp616Cys) c.1545G>C (p.Trp515Cys) c.1206G>C (p.Trp402Cys) c.1044G>C (p.Trp348Cys) c.1014G>C (p.Trp338Cys) | |
| 5 | g.149883473C>T | CA361692410 | PDE6A | c.2091G>A (p.Trp697Ter) n.2275G>A c.1848G>A (p.Trp616Ter) c.1545G>A (p.Trp515Ter) c.1206G>A (p.Trp402Ter) c.1044G>A (p.Trp348Ter) c.1014G>A (p.Trp338Ter) | |
| 5 | g.149883474C>A | CA361692413 | PDE6A | c.2090G>T (p.Trp697Leu) n.2274G>T c.1847G>T (p.Trp616Leu) c.1544G>T (p.Trp515Leu) c.1205G>T (p.Trp402Leu) c.1043G>T (p.Trp348Leu) c.1013G>T (p.Trp338Leu) | |
| 5 | g.149883474C>G | CA361692414 | PDE6A | c.2090G>C (p.Trp697Ser) n.2274G>C c.1847G>C (p.Trp616Ser) c.1544G>C (p.Trp515Ser) c.1205G>C (p.Trp402Ser) c.1043G>C (p.Trp348Ser) c.1013G>C (p.Trp338Ser) | |
| 5 | g.149883474C>T | CA361692417 | PDE6A | c.2090G>A (p.Trp697Ter) n.2274G>A c.1847G>A (p.Trp616Ter) c.1544G>A (p.Trp515Ter) c.1205G>A (p.Trp402Ter) c.1043G>A (p.Trp348Ter) c.1013G>A (p.Trp338Ter) | |
| 5 | g.149883475A>C | CA361692419 | PDE6A | c.2089T>G (p.Trp697Gly) n.2273T>G c.1846T>G (p.Trp616Gly) c.1543T>G (p.Trp515Gly) c.1204T>G (p.Trp402Gly) c.1042T>G (p.Trp348Gly) c.1012T>G (p.Trp338Gly) | |
| 5 | g.149883475A>G | CA361692421 | PDE6A | c.2089T>C (p.Trp697Arg) n.2273T>C c.1846T>C (p.Trp616Arg) c.1543T>C (p.Trp515Arg) c.1204T>C (p.Trp402Arg) c.1042T>C (p.Trp348Arg) c.1012T>C (p.Trp338Arg) | |
| 5 | g.149883475A>T | CA361692423 | PDE6A | c.2089T>A (p.Trp697Arg) n.2273T>A c.1846T>A (p.Trp616Arg) c.1543T>A (p.Trp515Arg) c.1204T>A (p.Trp402Arg) c.1042T>A (p.Trp348Arg) c.1012T>A (p.Trp338Arg) | |
| 5 | g.149883476C>A | CA361692426 | PDE6A | c.2088G>T (p.Glu696Asp) n.2272G>T c.1845G>T (p.Glu615Asp) c.1542G>T (p.Glu514Asp) c.1203G>T (p.Glu401Asp) c.1041G>T (p.Glu347Asp) c.1011G>T (p.Glu337Asp) | |
| 5 | g.149883476C>G | CA361692429 | PDE6A | c.2088G>C (p.Glu696Asp) n.2272G>C c.1845G>C (p.Glu615Asp) c.1542G>C (p.Glu514Asp) c.1203G>C (p.Glu401Asp) c.1041G>C (p.Glu347Asp) c.1011G>C (p.Glu337Asp) | |
| 5 | g.149883476C>T | CA447141096 | PDE6A | c.2088G>A (p.Glu696=) n.2272G>A c.1845G>A (p.Glu615=) c.1542G>A (p.Glu514=) c.1203G>A (p.Glu401=) c.1041G>A (p.Glu347=) c.1011G>A (p.Glu337=) | dbSNP |
| 5 | g.149883477T>A | CA361692432 | PDE6A | c.2087A>T (p.Glu696Val) n.2271A>T c.1844A>T (p.Glu615Val) c.1541A>T (p.Glu514Val) c.1202A>T (p.Glu401Val) c.1040A>T (p.Glu347Val) c.1010A>T (p.Glu337Val) | |
| 5 | g.149883477T>C | CA361692436 | PDE6A | c.2087A>G (p.Glu696Gly) n.2271A>G c.1844A>G (p.Glu615Gly) c.1541A>G (p.Glu514Gly) c.1202A>G (p.Glu401Gly) c.1040A>G (p.Glu347Gly) c.1010A>G (p.Glu337Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149883477T>G | CA361692433 | PDE6A | c.2087A>C (p.Glu696Ala) n.2271A>C c.1844A>C (p.Glu615Ala) c.1541A>C (p.Glu514Ala) c.1202A>C (p.Glu401Ala) c.1040A>C (p.Glu347Ala) c.1010A>C (p.Glu337Ala) | |
| 5 | g.149883477T= | CA1590694621 | PDE6A | c.2087A= (p.Glu696=) n.2271A= c.1844A= (p.Glu615=) c.1541A= (p.Glu514=) c.1202A= (p.Glu401=) c.1040A= (p.Glu347=) c.1010A= (p.Glu337=) | |
| 5 | g.149883478C>A | CA361692439 | PDE6A | c.2086G>T (p.Glu696Ter) n.2270G>T c.1843G>T (p.Glu615Ter) c.1540G>T (p.Glu514Ter) c.1201G>T (p.Glu401Ter) c.1039G>T (p.Glu347Ter) c.1009G>T (p.Glu337Ter) | |
| 5 | g.149883478C= | CA1590694622 | PDE6A | c.2086G= (p.Glu696=) n.2270G= c.1843G= (p.Glu615=) c.1540G= (p.Glu514=) c.1201G= (p.Glu401=) c.1039G= (p.Glu347=) c.1009G= (p.Glu337=) | |
| 5 | g.149883478C>G | CA361692441 | PDE6A | c.2086G>C (p.Glu696Gln) n.2270G>C c.1843G>C (p.Glu615Gln) c.1540G>C (p.Glu514Gln) c.1201G>C (p.Glu401Gln) c.1039G>C (p.Glu347Gln) c.1009G>C (p.Glu337Gln) | dbSNP gnomAD v4 |
| 5 | g.149883478C>T | CA129059232 | PDE6A | c.2086G>A (p.Glu696Lys) n.2270G>A c.1843G>A (p.Glu615Lys) c.1540G>A (p.Glu514Lys) c.1201G>A (p.Glu401Lys) c.1039G>A (p.Glu347Lys) c.1009G>A (p.Glu337Lys) | dbSNP gnomAD v4 |
| 5 | g.149883478_149883483delinsCCTGTT | CA1590694623 | PDE6A | c.2081_2086delinsAACAGG (p.Glu694=) n.2265_2270delinsAACAGG c.1838_1843delinsAACAGG (p.Glu613=) c.1535_1540delinsAACAGG (p.Glu512=) c.1196_1201delinsAACAGG (p.Glu399=) c.1034_1039delinsAACAGG (p.Glu345=) c.1004_1009delinsAACAGG (p.Glu335=) | |
| 5 | g.149883479C>A | CA361692446 | PDE6A | c.2085G>T (p.Gln695His) n.2269G>T c.1842G>T (p.Gln614His) c.1539G>T (p.Gln513His) c.1200G>T (p.Gln400His) c.1038G>T (p.Gln346His) c.1008G>T (p.Gln336His) | |
| 5 | g.149883479C>G | CA361692449 | PDE6A | c.2085G>C (p.Gln695His) n.2269G>C c.1842G>C (p.Gln614His) c.1539G>C (p.Gln513His) c.1200G>C (p.Gln400His) c.1038G>C (p.Gln346His) c.1008G>C (p.Gln336His) | |
| 5 | g.149883479C>T | CA447141097 | PDE6A | c.2085G>A (p.Gln695=) n.2269G>A c.1842G>A (p.Gln614=) c.1539G>A (p.Gln513=) c.1200G>A (p.Gln400=) c.1038G>A (p.Gln346=) c.1008G>A (p.Gln336=) | |
| 5 | g.149883480_149883484del | CA915942716 | PDE6A | c.2081_2085del (p.Glu694GlyfsTer25) n.2265_2269del c.1838_1842del (p.Glu613GlyfsTer25) c.1535_1539del (p.Glu512GlyfsTer25) c.1196_1200del (p.Glu399GlyfsTer25) c.1034_1038del (p.Glu345GlyfsTer25) c.1004_1008del (p.Glu335GlyfsTer25) | ClinVar dbSNP |
| 5 | g.149883480T>A | CA361692450 | PDE6A | c.2084A>T (p.Gln695Leu) n.2268A>T c.1841A>T (p.Gln614Leu) c.1538A>T (p.Gln513Leu) c.1199A>T (p.Gln400Leu) c.1037A>T (p.Gln346Leu) c.1007A>T (p.Gln336Leu) | |
| 5 | g.149883480T>C | CA361692453 | PDE6A | c.2084A>G (p.Gln695Arg) n.2268A>G c.1841A>G (p.Gln614Arg) c.1538A>G (p.Gln513Arg) c.1199A>G (p.Gln400Arg) c.1037A>G (p.Gln346Arg) c.1007A>G (p.Gln336Arg) | |
| 5 | g.149883480T>G | CA361692455 | PDE6A | c.2084A>C (p.Gln695Pro) n.2268A>C c.1841A>C (p.Gln614Pro) c.1538A>C (p.Gln513Pro) c.1199A>C (p.Gln400Pro) c.1037A>C (p.Gln346Pro) c.1007A>C (p.Gln336Pro) | gnomAD v4 |
| 5 | g.149883481G>A | CA361692457 | PDE6A | c.2083C>T (p.Gln695Ter) n.2267C>T c.1840C>T (p.Gln614Ter) c.1537C>T (p.Gln513Ter) c.1198C>T (p.Gln400Ter) c.1036C>T (p.Gln346Ter) c.1006C>T (p.Gln336Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149883481G>C | CA361692460 | PDE6A | c.2083C>G (p.Gln695Glu) n.2267C>G c.1840C>G (p.Gln614Glu) c.1537C>G (p.Gln513Glu) c.1198C>G (p.Gln400Glu) c.1036C>G (p.Gln346Glu) c.1006C>G (p.Gln336Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149883481G= | CA1590694624 | PDE6A | c.2083C= (p.Gln695=) n.2267C= c.1840C= (p.Gln614=) c.1537C= (p.Gln513=) c.1198C= (p.Gln400=) c.1036C= (p.Gln346=) c.1006C= (p.Gln336=) | |
| 5 | g.149883481G>T | CA361692462 | PDE6A | c.2083C>A (p.Gln695Lys) n.2267C>A c.1840C>A (p.Gln614Lys) c.1537C>A (p.Gln513Lys) c.1198C>A (p.Gln400Lys) c.1036C>A (p.Gln346Lys) c.1006C>A (p.Gln336Lys) | |
| 5 | g.149883482T>A | CA361692463 | PDE6A | c.2082A>T (p.Glu694Asp) n.2266A>T c.1839A>T (p.Glu613Asp) c.1536A>T (p.Glu512Asp) c.1197A>T (p.Glu399Asp) c.1035A>T (p.Glu345Asp) c.1005A>T (p.Glu335Asp) | |
| 5 | g.149883482T>C | CA447141098 | PDE6A | c.2082A>G (p.Glu694=) n.2266A>G c.1839A>G (p.Glu613=) c.1536A>G (p.Glu512=) c.1197A>G (p.Glu399=) c.1035A>G (p.Glu345=) c.1005A>G (p.Glu335=) | |
| 5 | g.149883482T>G | CA361692464 | PDE6A | c.2082A>C (p.Glu694Asp) n.2266A>C c.1839A>C (p.Glu613Asp) c.1536A>C (p.Glu512Asp) c.1197A>C (p.Glu399Asp) c.1035A>C (p.Glu345Asp) c.1005A>C (p.Glu335Asp) | |
| 5 | g.149883483T>A | CA361692468 | PDE6A | c.2081A>T (p.Glu694Val) n.2265A>T c.1838A>T (p.Glu613Val) c.1535A>T (p.Glu512Val) c.1196A>T (p.Glu399Val) c.1034A>T (p.Glu345Val) c.1004A>T (p.Glu335Val) | |
| 5 | g.149883483T>C | CA361692471 | PDE6A | c.2081A>G (p.Glu694Gly) n.2265A>G c.1838A>G (p.Glu613Gly) c.1535A>G (p.Glu512Gly) c.1196A>G (p.Glu399Gly) c.1034A>G (p.Glu345Gly) c.1004A>G (p.Glu335Gly) | |
| 5 | g.149883483T>G | CA361692470 | PDE6A | c.2081A>C (p.Glu694Ala) n.2265A>C c.1838A>C (p.Glu613Ala) c.1535A>C (p.Glu512Ala) c.1196A>C (p.Glu399Ala) c.1034A>C (p.Glu345Ala) c.1004A>C (p.Glu335Ala) | |
| 5 | g.149883484C>A | CA361692474 | PDE6A | c.2080G>T (p.Glu694Ter) n.2264G>T c.1837G>T (p.Glu613Ter) c.1534G>T (p.Glu512Ter) c.1195G>T (p.Glu399Ter) c.1033G>T (p.Glu345Ter) c.1003G>T (p.Glu335Ter) | |
| 5 | g.149883484C>G | CA361692476 | PDE6A | c.2080G>C (p.Glu694Gln) n.2264G>C c.1837G>C (p.Glu613Gln) c.1534G>C (p.Glu512Gln) c.1195G>C (p.Glu399Gln) c.1033G>C (p.Glu345Gln) c.1003G>C (p.Glu335Gln) | |
| 5 | g.149883484C>T | CA361692478 | PDE6A | c.2080G>A (p.Glu694Lys) n.2264G>A c.1837G>A (p.Glu613Lys) c.1534G>A (p.Glu512Lys) c.1195G>A (p.Glu399Lys) c.1033G>A (p.Glu345Lys) c.1003G>A (p.Glu335Lys) | |
| 5 | g.149883485A= | CA1590694625 | PDE6A | c.2079T= (p.Ser693=) n.2263T= c.1836T= (p.Ser612=) c.1533T= (p.Ser511=) c.1194T= (p.Ser398=) c.1032T= (p.Ser344=) c.1002T= (p.Ser334=) | |
| 5 | g.149883485A>C | CA361692480 | PDE6A | c.2079T>G (p.Ser693Arg) n.2263T>G c.1836T>G (p.Ser612Arg) c.1533T>G (p.Ser511Arg) c.1194T>G (p.Ser398Arg) c.1032T>G (p.Ser344Arg) c.1002T>G (p.Ser334Arg) | |
| 5 | g.149883485A>G | CA447141099 | PDE6A | c.2079T>C (p.Ser693=) n.2263T>C c.1836T>C (p.Ser612=) c.1533T>C (p.Ser511=) c.1194T>C (p.Ser398=) c.1032T>C (p.Ser344=) c.1002T>C (p.Ser334=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149883485A>T | CA361692483 | PDE6A | c.2079T>A (p.Ser693Arg) n.2263T>A c.1836T>A (p.Ser612Arg) c.1533T>A (p.Ser511Arg) c.1194T>A (p.Ser398Arg) c.1032T>A (p.Ser344Arg) c.1002T>A (p.Ser334Arg) | |
| 5 | g.149883486C>A | CA361692485 | PDE6A | c.2078G>T (p.Ser693Ile) n.2262G>T c.1835G>T (p.Ser612Ile) c.1532G>T (p.Ser511Ile) c.1193G>T (p.Ser398Ile) c.1031G>T (p.Ser344Ile) c.1001G>T (p.Ser334Ile) | |
| 5 | g.149883486C>G | CA361692487 | PDE6A | c.2078G>C (p.Ser693Thr) n.2262G>C c.1835G>C (p.Ser612Thr) c.1532G>C (p.Ser511Thr) c.1193G>C (p.Ser398Thr) c.1031G>C (p.Ser344Thr) c.1001G>C (p.Ser334Thr) | |
| 5 | g.149883486C>T | CA361692489 | PDE6A | c.2078G>A (p.Ser693Asn) n.2262G>A c.1835G>A (p.Ser612Asn) c.1532G>A (p.Ser511Asn) c.1193G>A (p.Ser398Asn) c.1031G>A (p.Ser344Asn) c.1001G>A (p.Ser334Asn) | gnomAD v4 |
| 5 | g.149883489_149883490del | CA2578448909 | PDE6A | c.2077_2078del (p.Ser693Ter) n.2261_2262del c.1834_1835del (p.Ser612Ter) c.1531_1532del (p.Ser511Ter) c.1192_1193del (p.Ser398Ter) c.1030_1031del (p.Ser344Ter) c.1000_1001del (p.Ser334Ter) | |
| 5 | g.149883487T>A | CA361692492 | PDE6A | c.2077A>T (p.Ser693Cys) n.2261A>T c.1834A>T (p.Ser612Cys) c.1531A>T (p.Ser511Cys) c.1192A>T (p.Ser398Cys) c.1030A>T (p.Ser344Cys) c.1000A>T (p.Ser334Cys) | |
| 5 | g.149883487T>C | CA3504415 | PDE6A | c.2077A>G (p.Ser693Gly) n.2261A>G c.1834A>G (p.Ser612Gly) c.1531A>G (p.Ser511Gly) c.1192A>G (p.Ser398Gly) c.1030A>G (p.Ser344Gly) c.1000A>G (p.Ser334Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149883487T>G | CA361692496 | PDE6A | c.2077A>C (p.Ser693Arg) n.2261A>C c.1834A>C (p.Ser612Arg) c.1531A>C (p.Ser511Arg) c.1192A>C (p.Ser398Arg) c.1030A>C (p.Ser344Arg) c.1000A>C (p.Ser334Arg) | |
| 5 | g.149883487T= | CA1590694626 | PDE6A | c.2077A= (p.Ser693=) n.2261A= c.1834A= (p.Ser612=) c.1531A= (p.Ser511=) c.1192A= (p.Ser398=) c.1030A= (p.Ser344=) c.1000A= (p.Ser334=) | |
| 5 | g.149883488C>A | CA361692498 | PDE6A | c.2076G>T (p.Glu692Asp) n.2260G>T c.1833G>T (p.Glu611Asp) c.1530G>T (p.Glu510Asp) c.1191G>T (p.Glu397Asp) c.1029G>T (p.Glu343Asp) c.999G>T (p.Glu333Asp) | |
| 5 | g.149883488C>G | CA361692500 | PDE6A | c.2076G>C (p.Glu692Asp) n.2260G>C c.1833G>C (p.Glu611Asp) c.1530G>C (p.Glu510Asp) c.1191G>C (p.Glu397Asp) c.1029G>C (p.Glu343Asp) c.999G>C (p.Glu333Asp) | |
| 5 | g.149883488C>T | CA447141100 | PDE6A | c.2076G>A (p.Glu692=) n.2260G>A c.1833G>A (p.Glu611=) c.1530G>A (p.Glu510=) c.1191G>A (p.Glu397=) c.1029G>A (p.Glu343=) c.999G>A (p.Glu333=) | |
| 5 | g.149883489T>A | CA361692503 | PDE6A | c.2075A>T (p.Glu692Val) n.2259A>T c.1832A>T (p.Glu611Val) c.1529A>T (p.Glu510Val) c.1190A>T (p.Glu397Val) c.1028A>T (p.Glu343Val) c.998A>T (p.Glu333Val) | |
| 5 | g.149883489T>C | CA361692505 | PDE6A | c.2075A>G (p.Glu692Gly) n.2259A>G c.1832A>G (p.Glu611Gly) c.1529A>G (p.Glu510Gly) c.1190A>G (p.Glu397Gly) c.1028A>G (p.Glu343Gly) c.998A>G (p.Glu333Gly) | |
| 5 | g.149883489T>G | CA361692507 | PDE6A | c.2075A>C (p.Glu692Ala) n.2259A>C c.1832A>C (p.Glu611Ala) c.1529A>C (p.Glu510Ala) c.1190A>C (p.Glu397Ala) c.1028A>C (p.Glu343Ala) c.998A>C (p.Glu333Ala) | |
| 5 | g.149883490C>A | CA361692515 | PDE6A | c.2074G>T (p.Glu692Ter) n.2258G>T c.1831G>T (p.Glu611Ter) c.1528G>T (p.Glu510Ter) c.1189G>T (p.Glu397Ter) c.1027G>T (p.Glu343Ter) c.997G>T (p.Glu333Ter) | |
| 5 | g.149883490C>G | CA361692517 | PDE6A | c.2074G>C (p.Glu692Gln) n.2258G>C c.1831G>C (p.Glu611Gln) c.1528G>C (p.Glu510Gln) c.1189G>C (p.Glu397Gln) c.1027G>C (p.Glu343Gln) c.997G>C (p.Glu333Gln) | |
| 5 | g.149883490C>T | CA361692518 | PDE6A | c.2074G>A (p.Glu692Lys) n.2258G>A c.1831G>A (p.Glu611Lys) c.1528G>A (p.Glu510Lys) c.1189G>A (p.Glu397Lys) c.1027G>A (p.Glu343Lys) c.997G>A (p.Glu333Lys) | gnomAD v4 |
| 5 | g.149883491A= | CA1590694627 | PDE6A | c.2073T= (p.Tyr691=) n.2257T= c.1830T= (p.Tyr610=) c.1527T= (p.Tyr509=) c.1188T= (p.Tyr396=) c.1026T= (p.Tyr342=) c.996T= (p.Tyr332=) | |
| 5 | g.149883491A>C | CA361692520 | PDE6A | c.2073T>G (p.Tyr691Ter) n.2257T>G c.1830T>G (p.Tyr610Ter) c.1527T>G (p.Tyr509Ter) c.1188T>G (p.Tyr396Ter) c.1026T>G (p.Tyr342Ter) c.996T>G (p.Tyr332Ter) | gnomAD v4 |
| 5 | g.149883491A>G | CA3504416 | PDE6A | c.2073T>C (p.Tyr691=) n.2257T>C c.1830T>C (p.Tyr610=) c.1527T>C (p.Tyr509=) c.1188T>C (p.Tyr396=) c.1026T>C (p.Tyr342=) c.996T>C (p.Tyr332=) | dbSNP ExAC gnomAD v2 |
| 5 | g.149883491A>T | CA361692524 | PDE6A | c.2073T>A (p.Tyr691Ter) n.2257T>A c.1830T>A (p.Tyr610Ter) c.1527T>A (p.Tyr509Ter) c.1188T>A (p.Tyr396Ter) c.1026T>A (p.Tyr342Ter) c.996T>A (p.Tyr332Ter) | |
| 5 | g.149883493_149883494del | CA2675938670 | PDE6A | c.2072_2073del (p.Tyr691Ter) n.2256_2257del c.1829_1830del (p.Tyr610Ter) c.1526_1527del (p.Tyr509Ter) c.1187_1188del (p.Tyr396Ter) c.1025_1026del (p.Tyr342Ter) c.995_996del (p.Tyr332Ter) | gnomAD v4 |
| 5 | g.149883492T>A | CA361692525 | PDE6A | c.2072A>T (p.Tyr691Phe) n.2256A>T c.1829A>T (p.Tyr610Phe) c.1526A>T (p.Tyr509Phe) c.1187A>T (p.Tyr396Phe) c.1025A>T (p.Tyr342Phe) c.995A>T (p.Tyr332Phe) | |
| 5 | g.149883492T>C | CA361692528 | PDE6A | c.2072A>G (p.Tyr691Cys) n.2256A>G c.1829A>G (p.Tyr610Cys) c.1526A>G (p.Tyr509Cys) c.1187A>G (p.Tyr396Cys) c.1025A>G (p.Tyr342Cys) c.995A>G (p.Tyr332Cys) | gnomAD v4 |
| 5 | g.149883492T>G | CA361692530 | PDE6A | c.2072A>C (p.Tyr691Ser) n.2256A>C c.1829A>C (p.Tyr610Ser) c.1526A>C (p.Tyr509Ser) c.1187A>C (p.Tyr396Ser) c.1025A>C (p.Tyr342Ser) c.995A>C (p.Tyr332Ser) | gnomAD v4 |
| 5 | g.149883493A= | CA1590694628 | PDE6A | c.2071T= (p.Tyr691=) n.2255T= c.1828T= (p.Tyr610=) c.1525T= (p.Tyr509=) c.1186T= (p.Tyr396=) c.1024T= (p.Tyr342=) c.994T= (p.Tyr332=) | |
| 5 | g.149883493A>C | CA361692534 | PDE6A | c.2071T>G (p.Tyr691Asp) n.2255T>G c.1828T>G (p.Tyr610Asp) c.1525T>G (p.Tyr509Asp) c.1186T>G (p.Tyr396Asp) c.1024T>G (p.Tyr342Asp) c.994T>G (p.Tyr332Asp) | |
| 5 | g.149883493A>G | CA361692535 | PDE6A | c.2071T>C (p.Tyr691His) n.2255T>C c.1828T>C (p.Tyr610His) c.1525T>C (p.Tyr509His) c.1186T>C (p.Tyr396His) c.1024T>C (p.Tyr342His) c.994T>C (p.Tyr332His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149883493A>T | CA361692531 | PDE6A | c.2071T>A (p.Tyr691Asn) n.2255T>A c.1828T>A (p.Tyr610Asn) c.1525T>A (p.Tyr509Asn) c.1186T>A (p.Tyr396Asn) c.1024T>A (p.Tyr342Asn) c.994T>A (p.Tyr332Asn) | |
| 5 | g.149883494T>A | CA447141103 | PDE6A | c.2070A>T (p.Thr690=) n.2254A>T c.1827A>T (p.Thr609=) c.1524A>T (p.Thr508=) c.1185A>T (p.Thr395=) c.1023A>T (p.Thr341=) c.993A>T (p.Thr331=) | |
| 5 | g.149883494T>C | CA447141102 | PDE6A | c.2070A>G (p.Thr690=) n.2254A>G c.1827A>G (p.Thr609=) c.1524A>G (p.Thr508=) c.1185A>G (p.Thr395=) c.1023A>G (p.Thr341=) c.993A>G (p.Thr331=) | |
| 5 | g.149883494T>G | CA447141101 | PDE6A | c.2070A>C (p.Thr690=) n.2254A>C c.1827A>C (p.Thr609=) c.1524A>C (p.Thr508=) c.1185A>C (p.Thr395=) c.1023A>C (p.Thr341=) c.993A>C (p.Thr331=) | |
| 5 | g.149883495G>A | CA361692537 | PDE6A | c.2069C>T (p.Thr690Ile) n.2253C>T c.1826C>T (p.Thr609Ile) c.1523C>T (p.Thr508Ile) c.1184C>T (p.Thr395Ile) c.1022C>T (p.Thr341Ile) c.992C>T (p.Thr331Ile) | |
| 5 | g.149883495G>C | CA361692538 | PDE6A | c.2069C>G (p.Thr690Arg) n.2253C>G c.1826C>G (p.Thr609Arg) c.1523C>G (p.Thr508Arg) c.1184C>G (p.Thr395Arg) c.1022C>G (p.Thr341Arg) c.992C>G (p.Thr331Arg) | |
| 5 | g.149883495G>T | CA361692541 | PDE6A | c.2069C>A (p.Thr690Lys) n.2253C>A c.1826C>A (p.Thr609Lys) c.1523C>A (p.Thr508Lys) c.1184C>A (p.Thr395Lys) c.1022C>A (p.Thr341Lys) c.992C>A (p.Thr331Lys) | |
| 5 | g.149883496T>A | CA361692543 | PDE6A | c.2068A>T (p.Thr690Ser) n.2252A>T c.1825A>T (p.Thr609Ser) c.1522A>T (p.Thr508Ser) c.1183A>T (p.Thr395Ser) c.1021A>T (p.Thr341Ser) c.991A>T (p.Thr331Ser) | |
| 5 | g.149883496T>C | CA361692545 | PDE6A | c.2068A>G (p.Thr690Ala) n.2252A>G c.1825A>G (p.Thr609Ala) c.1522A>G (p.Thr508Ala) c.1183A>G (p.Thr395Ala) c.1021A>G (p.Thr341Ala) c.991A>G (p.Thr331Ala) | dbSNP gnomAD v4 |
| 5 | g.149883496T>G | CA361692548 | PDE6A | c.2068A>C (p.Thr690Pro) n.2252A>C c.1825A>C (p.Thr609Pro) c.1522A>C (p.Thr508Pro) c.1183A>C (p.Thr395Pro) c.1021A>C (p.Thr341Pro) c.991A>C (p.Thr331Pro) | |
| 5 | g.149883496T= | CA1590694629 | PDE6A | c.2068A= (p.Thr690=) n.2252A= c.1825A= (p.Thr609=) c.1522A= (p.Thr508=) c.1183A= (p.Thr395=) c.1021A= (p.Thr341=) c.991A= (p.Thr331=) | |
| 5 | g.149883497C>A | CA361692551 | PDE6A | c.2067G>T (p.Lys689Asn) n.2251G>T c.1824G>T (p.Lys608Asn) c.1521G>T (p.Lys507Asn) c.1182G>T (p.Lys394Asn) c.1020G>T (p.Lys340Asn) c.990G>T (p.Lys330Asn) | |
| 5 | g.149883497C>G | CA361692552 | PDE6A | c.2067G>C (p.Lys689Asn) n.2251G>C c.1824G>C (p.Lys608Asn) c.1521G>C (p.Lys507Asn) c.1182G>C (p.Lys394Asn) c.1020G>C (p.Lys340Asn) c.990G>C (p.Lys330Asn) | |
| 5 | g.149883497C>T | CA447141104 | PDE6A | c.2067G>A (p.Lys689=) n.2251G>A c.1824G>A (p.Lys608=) c.1521G>A (p.Lys507=) c.1182G>A (p.Lys394=) c.1020G>A (p.Lys340=) c.990G>A (p.Lys330=) | |
| 5 | g.149883498T>A | CA361692554 | PDE6A | c.2066A>T (p.Lys689Met) n.2250A>T c.1823A>T (p.Lys608Met) c.1520A>T (p.Lys507Met) c.1181A>T (p.Lys394Met) c.1019A>T (p.Lys340Met) c.989A>T (p.Lys330Met) | |
| 5 | g.149883498T>C | CA361692556 | PDE6A | c.2066A>G (p.Lys689Arg) n.2250A>G c.1823A>G (p.Lys608Arg) c.1520A>G (p.Lys507Arg) c.1181A>G (p.Lys394Arg) c.1019A>G (p.Lys340Arg) c.989A>G (p.Lys330Arg) | |
| 5 | g.149883498T>G | CA361692557 | PDE6A | c.2066A>C (p.Lys689Thr) n.2250A>C c.1823A>C (p.Lys608Thr) c.1520A>C (p.Lys507Thr) c.1181A>C (p.Lys394Thr) c.1019A>C (p.Lys340Thr) c.989A>C (p.Lys330Thr) | |
| 5 | g.149883499T>A | CA361692559 | PDE6A | c.2065A>T (p.Lys689Ter) n.2249A>T c.1822A>T (p.Lys608Ter) c.1519A>T (p.Lys507Ter) c.1180A>T (p.Lys394Ter) c.1018A>T (p.Lys340Ter) c.988A>T (p.Lys330Ter) | |
| 5 | g.149883499T>C | CA361692561 | PDE6A | c.2065A>G (p.Lys689Glu) n.2249A>G c.1822A>G (p.Lys608Glu) c.1519A>G (p.Lys507Glu) c.1180A>G (p.Lys394Glu) c.1018A>G (p.Lys340Glu) c.988A>G (p.Lys330Glu) | dbSNP |
| 5 | g.149883499T>G | CA361692562 | PDE6A | c.2065A>C (p.Lys689Gln) n.2249A>C c.1822A>C (p.Lys608Gln) c.1519A>C (p.Lys507Gln) c.1180A>C (p.Lys394Gln) c.1018A>C (p.Lys340Gln) c.988A>C (p.Lys330Gln) | |
| 5 | g.149883499T= | CA1590694631 | PDE6A | c.2065A= (p.Lys689=) n.2249A= c.1822A= (p.Lys608=) c.1519A= (p.Lys507=) c.1180A= (p.Lys394=) c.1018A= (p.Lys340=) c.988A= (p.Lys330=) | |
| 5 | g.149883499_149883500delinsTA | CA1590694630 | PDE6A | c.2064_2065delinsTA (p.Ser688=) n.2248_2249delinsTA c.1821_1822delinsTA (p.Ser607=) c.1518_1519delinsTA (p.Ser506=) c.1179_1180delinsTA (p.Ser393=) c.1017_1018delinsTA (p.Ser339=) c.987_988delinsTA (p.Ser329=) | |
| 5 | g.149883500del | CA915942717 | PDE6A | c.2064del (p.Lys689ArgfsTer13) n.2248del c.1821del (p.Lys608ArgfsTer13) c.1518del (p.Lys507ArgfsTer13) c.1179del (p.Lys394ArgfsTer13) c.1017del (p.Lys340ArgfsTer13) c.987del (p.Lys330ArgfsTer13) | ClinVar dbSNP |
| 5 | g.149883500A= | CA1590694632 | PDE6A | c.2064T= (p.Ser688=) n.2248T= c.1821T= (p.Ser607=) c.1518T= (p.Ser506=) c.1179T= (p.Ser393=) c.1017T= (p.Ser339=) c.987T= (p.Ser329=) | |
| 5 | g.149883500A>C | CA129059246 | PDE6A | c.2064T>G (p.Ser688=) n.2248T>G c.1821T>G (p.Ser607=) c.1518T>G (p.Ser506=) c.1179T>G (p.Ser393=) c.1017T>G (p.Ser339=) c.987T>G (p.Ser329=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149883500A>G | CA447141105 | PDE6A | c.2064T>C (p.Ser688=) n.2248T>C c.1821T>C (p.Ser607=) c.1518T>C (p.Ser506=) c.1179T>C (p.Ser393=) c.1017T>C (p.Ser339=) c.987T>C (p.Ser329=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149883500A>T | CA447141106 | PDE6A | c.2064T>A (p.Ser688=) n.2248T>A c.1821T>A (p.Ser607=) c.1518T>A (p.Ser506=) c.1179T>A (p.Ser393=) c.1017T>A (p.Ser339=) c.987T>A (p.Ser329=) | |
| 5 | g.149883501G>A | CA361692566 | PDE6A | c.2063C>T (p.Ser688Phe) n.2247C>T c.1820C>T (p.Ser607Phe) c.1517C>T (p.Ser506Phe) c.1178C>T (p.Ser393Phe) c.1016C>T (p.Ser339Phe) c.986C>T (p.Ser329Phe) | gnomAD v4 |
| 5 | g.149883501G>C | CA361692569 | PDE6A | c.2063C>G (p.Ser688Cys) n.2247C>G c.1820C>G (p.Ser607Cys) c.1517C>G (p.Ser506Cys) c.1178C>G (p.Ser393Cys) c.1016C>G (p.Ser339Cys) c.986C>G (p.Ser329Cys) | |
| 5 | g.149883501G>T | CA361692565 | PDE6A | c.2063C>A (p.Ser688Tyr) n.2247C>A c.1820C>A (p.Ser607Tyr) c.1517C>A (p.Ser506Tyr) c.1178C>A (p.Ser393Tyr) c.1016C>A (p.Ser339Tyr) c.986C>A (p.Ser329Tyr) | gnomAD v4 |
| 5 | g.149883502A>C | CA361692574 | PDE6A | c.2062T>G (p.Ser688Ala) n.2246T>G c.1819T>G (p.Ser607Ala) c.1516T>G (p.Ser506Ala) c.1177T>G (p.Ser393Ala) c.1015T>G (p.Ser339Ala) c.985T>G (p.Ser329Ala) | |
| 5 | g.149883502A>G | CA361692572 | PDE6A | c.2062T>C (p.Ser688Pro) n.2246T>C c.1819T>C (p.Ser607Pro) c.1516T>C (p.Ser506Pro) c.1177T>C (p.Ser393Pro) c.1015T>C (p.Ser339Pro) c.985T>C (p.Ser329Pro) | |
| 5 | g.149883502A>T | CA361692577 | PDE6A | c.2062T>A (p.Ser688Thr) n.2246T>A c.1819T>A (p.Ser607Thr) c.1516T>A (p.Ser506Thr) c.1177T>A (p.Ser393Thr) c.1015T>A (p.Ser339Thr) c.985T>A (p.Ser329Thr) | |
| 5 | g.149883502dup | CA2675938671 | PDE6A | c.2062dup (p.Ser688PhefsTer2) n.2246dup c.1819dup (p.Ser607PhefsTer2) c.1516dup (p.Ser506PhefsTer2) c.1177dup (p.Ser393PhefsTer2) c.1015dup (p.Ser339PhefsTer2) c.985dup (p.Ser329PhefsTer2) | gnomAD v4 |
| 5 | g.149883503C>A | CA361692579 | PDE6A | c.2061G>T (p.Gln687His) n.2245G>T c.1818G>T (p.Gln606His) c.1515G>T (p.Gln505His) c.1176G>T (p.Gln392His) c.1014G>T (p.Gln338His) c.984G>T (p.Gln328His) | |
| 5 | g.149883503C= | CA1590694633 | PDE6A | c.2061G= (p.Gln687=) n.2245G= c.1818G= (p.Gln606=) c.1515G= (p.Gln505=) c.1176G= (p.Gln392=) c.1014G= (p.Gln338=) c.984G= (p.Gln328=) | |
| 5 | g.149883503C>G | CA361692580 | PDE6A | c.2061G>C (p.Gln687His) n.2245G>C c.1818G>C (p.Gln606His) c.1515G>C (p.Gln505His) c.1176G>C (p.Gln392His) c.1014G>C (p.Gln338His) c.984G>C (p.Gln328His) | |
| 5 | g.149883503C>T | CA447141107 | PDE6A | c.2061G>A (p.Gln687=) n.2245G>A c.1818G>A (p.Gln606=) c.1515G>A (p.Gln505=) c.1176G>A (p.Gln392=) c.1014G>A (p.Gln338=) c.984G>A (p.Gln328=) | dbSNP gnomAD v2 |
| 5 | g.149883504T>A | CA361692582 | PDE6A | c.2060A>T (p.Gln687Leu) n.2244A>T c.1817A>T (p.Gln606Leu) c.1514A>T (p.Gln505Leu) c.1175A>T (p.Gln392Leu) c.1013A>T (p.Gln338Leu) c.983A>T (p.Gln328Leu) | |
| 5 | g.149883504T>C | CA361692583 | PDE6A | c.2060A>G (p.Gln687Arg) n.2244A>G c.1817A>G (p.Gln606Arg) c.1514A>G (p.Gln505Arg) c.1175A>G (p.Gln392Arg) c.1013A>G (p.Gln338Arg) c.983A>G (p.Gln328Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149883504T>G | CA361692586 | PDE6A | c.2060A>C (p.Gln687Pro) n.2244A>C c.1817A>C (p.Gln606Pro) c.1514A>C (p.Gln505Pro) c.1175A>C (p.Gln392Pro) c.1013A>C (p.Gln338Pro) c.983A>C (p.Gln328Pro) | |
| 5 | g.149883504T= | CA1590694634 | PDE6A | c.2060A= (p.Gln687=) n.2244A= c.1817A= (p.Gln606=) c.1514A= (p.Gln505=) c.1175A= (p.Gln392=) c.1013A= (p.Gln338=) c.983A= (p.Gln328=) | |
| 5 | g.149883505G>A | CA361692589 | PDE6A | c.2059C>T (p.Gln687Ter) n.2243C>T c.1816C>T (p.Gln606Ter) c.1513C>T (p.Gln505Ter) c.1174C>T (p.Gln392Ter) c.1012C>T (p.Gln338Ter) c.982C>T (p.Gln328Ter) | dbSNP gnomAD v4 |
| 5 | g.149883505G>C | CA361692591 | PDE6A | c.2059C>G (p.Gln687Glu) n.2243C>G c.1816C>G (p.Gln606Glu) c.1513C>G (p.Gln505Glu) c.1174C>G (p.Gln392Glu) c.1012C>G (p.Gln338Glu) c.982C>G (p.Gln328Glu) | |
| 5 | g.149883505G= | CA1590694635 | PDE6A | c.2059C= (p.Gln687=) n.2243C= c.1816C= (p.Gln606=) c.1513C= (p.Gln505=) c.1174C= (p.Gln392=) c.1012C= (p.Gln338=) c.982C= (p.Gln328=) | |
| 5 | g.149883505G>T | CA361692593 | PDE6A | c.2059C>A (p.Gln687Lys) n.2243C>A c.1816C>A (p.Gln606Lys) c.1513C>A (p.Gln505Lys) c.1174C>A (p.Gln392Lys) c.1012C>A (p.Gln338Lys) c.982C>A (p.Gln328Lys) | |
| 5 | g.149883506A>C | CA361692596 | PDE6A | c.2058T>G (p.Asp686Glu) n.2242T>G c.1815T>G (p.Asp605Glu) c.1512T>G (p.Asp504Glu) c.1173T>G (p.Asp391Glu) c.1011T>G (p.Asp337Glu) c.981T>G (p.Asp327Glu) | |
| 5 | g.149883506A>G | CA447141108 | PDE6A | c.2058T>C (p.Asp686=) n.2242T>C c.1815T>C (p.Asp605=) c.1512T>C (p.Asp504=) c.1173T>C (p.Asp391=) c.1011T>C (p.Asp337=) c.981T>C (p.Asp327=) | |
| 5 | g.149883506A>T | CA361692598 | PDE6A | c.2058T>A (p.Asp686Glu) n.2242T>A c.1815T>A (p.Asp605Glu) c.1512T>A (p.Asp504Glu) c.1173T>A (p.Asp391Glu) c.1011T>A (p.Asp337Glu) c.981T>A (p.Asp327Glu) | |
| 5 | g.149883507T>A | CA361692600 | PDE6A | c.2057A>T (p.Asp686Val) n.2241A>T c.1814A>T (p.Asp605Val) c.1511A>T (p.Asp504Val) c.1172A>T (p.Asp391Val) c.1010A>T (p.Asp337Val) c.980A>T (p.Asp327Val) | |
| 5 | g.149883507T>C | CA361692602 | PDE6A | c.2057A>G (p.Asp686Gly) n.2241A>G c.1814A>G (p.Asp605Gly) c.1511A>G (p.Asp504Gly) c.1172A>G (p.Asp391Gly) c.1010A>G (p.Asp337Gly) c.980A>G (p.Asp327Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149883507T>G | CA361692605 | PDE6A | c.2057A>C (p.Asp686Ala) n.2241A>C c.1814A>C (p.Asp605Ala) c.1511A>C (p.Asp504Ala) c.1172A>C (p.Asp391Ala) c.1010A>C (p.Asp337Ala) c.980A>C (p.Asp327Ala) | |
| 5 | g.149883507T= | CA1590694636 | PDE6A | c.2057A= (p.Asp686=) n.2241A= c.1814A= (p.Asp605=) c.1511A= (p.Asp504=) c.1172A= (p.Asp391=) c.1010A= (p.Asp337=) c.980A= (p.Asp327=) | |
| 5 | g.149883508C>A | CA361692611 | PDE6A | c.2056G>T (p.Asp686Tyr) n.2240G>T c.1813G>T (p.Asp605Tyr) c.1510G>T (p.Asp504Tyr) c.1171G>T (p.Asp391Tyr) c.1009G>T (p.Asp337Tyr) c.979G>T (p.Asp327Tyr) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149883508C= | CA1590694637 | PDE6A | c.2056G= (p.Asp686=) n.2240G= c.1813G= (p.Asp605=) c.1510G= (p.Asp504=) c.1171G= (p.Asp391=) c.1009G= (p.Asp337=) c.979G= (p.Asp327=) | |
| 5 | g.149883508C>G | CA361692607 | PDE6A | c.2056G>C (p.Asp686His) n.2240G>C c.1813G>C (p.Asp605His) c.1510G>C (p.Asp504His) c.1171G>C (p.Asp391His) c.1009G>C (p.Asp337His) c.979G>C (p.Asp327His) | |
| 5 | g.149883508C>T | CA361692610 | PDE6A | c.2056G>A (p.Asp686Asn) n.2240G>A c.1813G>A (p.Asp605Asn) c.1510G>A (p.Asp504Asn) c.1171G>A (p.Asp391Asn) c.1009G>A (p.Asp337Asn) c.979G>A (p.Asp327Asn) | COSMIC |
| 5 | g.149883509C>A | CA447141109 | PDE6A | c.2055G>T (p.Val685=) n.2239G>T c.1812G>T (p.Val604=) c.1509G>T (p.Val503=) c.1170G>T (p.Val390=) c.1008G>T (p.Val336=) c.978G>T (p.Val326=) | |
| 5 | g.149883509C>G | CA447141110 | PDE6A | c.2055G>C (p.Val685=) n.2239G>C c.1812G>C (p.Val604=) c.1509G>C (p.Val503=) c.1170G>C (p.Val390=) c.1008G>C (p.Val336=) c.978G>C (p.Val326=) | |
| 5 | g.149883509C>T | CA447141111 | PDE6A | c.2055G>A (p.Val685=) n.2239G>A c.1812G>A (p.Val604=) c.1509G>A (p.Val503=) c.1170G>A (p.Val390=) c.1008G>A (p.Val336=) c.978G>A (p.Val326=) | |
| 5 | g.149883510A>C | CA361692614 | PDE6A | c.2054T>G (p.Val685Gly) n.2238T>G c.1811T>G (p.Val604Gly) c.1508T>G (p.Val503Gly) c.1169T>G (p.Val390Gly) c.1007T>G (p.Val336Gly) c.977T>G (p.Val326Gly) | |
| 5 | g.149883510A>G | CA361692617 | PDE6A | c.2054T>C (p.Val685Ala) n.2238T>C c.1811T>C (p.Val604Ala) c.1508T>C (p.Val503Ala) c.1169T>C (p.Val390Ala) c.1007T>C (p.Val336Ala) c.977T>C (p.Val326Ala) | |
| 5 | g.149883510A>T | CA361692618 | PDE6A | c.2054T>A (p.Val685Glu) n.2238T>A c.1811T>A (p.Val604Glu) c.1508T>A (p.Val503Glu) c.1169T>A (p.Val390Glu) c.1007T>A (p.Val336Glu) c.977T>A (p.Val326Glu) | |
| 5 | g.149883511C>A | CA361692620 | PDE6A | c.2053G>T (p.Val685Leu) n.2237G>T c.1810G>T (p.Val604Leu) c.1507G>T (p.Val503Leu) c.1168G>T (p.Val390Leu) c.1006G>T (p.Val336Leu) c.976G>T (p.Val326Leu) | |
| 5 | g.149883511C= | CA1590694638 | PDE6A | c.2053G= (p.Val685=) n.2237G= c.1810G= (p.Val604=) c.1507G= (p.Val503=) c.1168G= (p.Val390=) c.1006G= (p.Val336=) c.976G= (p.Val326=) | |
| 5 | g.149883511C>G | CA361692624 | PDE6A | c.2053G>C (p.Val685Leu) n.2237G>C c.1810G>C (p.Val604Leu) c.1507G>C (p.Val503Leu) c.1168G>C (p.Val390Leu) c.1006G>C (p.Val336Leu) c.976G>C (p.Val326Leu) | |
| 5 | g.149883511C>T | CA259675 | PDE6A | c.2053G>A (p.Val685Met) n.2237G>A c.1810G>A (p.Val604Met) c.1507G>A (p.Val503Met) c.1168G>A (p.Val390Met) c.1006G>A (p.Val336Met) c.976G>A (p.Val326Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149883512G>A | CA3504417 | PDE6A | c.2052C>T (p.Ile684=) n.2236C>T c.1809C>T (p.Ile603=) c.1506C>T (p.Ile502=) c.1167C>T (p.Ile389=) c.1005C>T (p.Ile335=) c.975C>T (p.Ile325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149883512G>C | CA361692630 | PDE6A | c.2052C>G (p.Ile684Met) n.2236C>G c.1809C>G (p.Ile603Met) c.1506C>G (p.Ile502Met) c.1167C>G (p.Ile389Met) c.1005C>G (p.Ile335Met) c.975C>G (p.Ile325Met) | gnomAD v4 |
| 5 | g.149883512G= | CA1590694639 | PDE6A | c.2052C= (p.Ile684=) n.2236C= c.1809C= (p.Ile603=) c.1506C= (p.Ile502=) c.1167C= (p.Ile389=) c.1005C= (p.Ile335=) c.975C= (p.Ile325=) | |
| 5 | g.149883512G>T | CA447141112 | PDE6A | c.2052C>A (p.Ile684=) n.2236C>A c.1809C>A (p.Ile603=) c.1506C>A (p.Ile502=) c.1167C>A (p.Ile389=) c.1005C>A (p.Ile335=) c.975C>A (p.Ile325=) | gnomAD v4 |
| 5 | g.149883513A>C | CA361692633 | PDE6A | c.2051T>G (p.Ile684Ser) n.2235T>G c.1808T>G (p.Ile603Ser) c.1505T>G (p.Ile502Ser) c.1166T>G (p.Ile389Ser) c.1004T>G (p.Ile335Ser) c.974T>G (p.Ile325Ser) | |
| 5 | g.149883513A>G | CA361692634 | PDE6A | c.2051T>C (p.Ile684Thr) n.2235T>C c.1808T>C (p.Ile603Thr) c.1505T>C (p.Ile502Thr) c.1166T>C (p.Ile389Thr) c.1004T>C (p.Ile335Thr) c.974T>C (p.Ile325Thr) | |
| 5 | g.149883513A>T | CA361692636 | PDE6A | c.2051T>A (p.Ile684Asn) n.2235T>A c.1808T>A (p.Ile603Asn) c.1505T>A (p.Ile502Asn) c.1166T>A (p.Ile389Asn) c.1004T>A (p.Ile335Asn) c.974T>A (p.Ile325Asn) | |
| 5 | g.149883514T>A | CA361692641 | PDE6A | c.2050A>T (p.Ile684Phe) n.2234A>T c.1807A>T (p.Ile603Phe) c.1504A>T (p.Ile502Phe) c.1165A>T (p.Ile389Phe) c.1003A>T (p.Ile335Phe) c.973A>T (p.Ile325Phe) | |
| 5 | g.149883514T>C | CA361692642 | PDE6A | c.2050A>G (p.Ile684Val) n.2234A>G c.1807A>G (p.Ile603Val) c.1504A>G (p.Ile502Val) c.1165A>G (p.Ile389Val) c.1003A>G (p.Ile335Val) c.973A>G (p.Ile325Val) | |
| 5 | g.149883514T>G | CA361692639 | PDE6A | c.2050A>C (p.Ile684Leu) n.2234A>C c.1807A>C (p.Ile603Leu) c.1504A>C (p.Ile502Leu) c.1165A>C (p.Ile389Leu) c.1003A>C (p.Ile335Leu) c.973A>C (p.Ile325Leu) | gnomAD v4 |
| 5 | g.149883515C>A | CA361692645 | PDE6A | c.2049G>T (p.Lys683Asn) n.2233G>T c.1806G>T (p.Lys602Asn) c.1503G>T (p.Lys501Asn) c.1164G>T (p.Lys388Asn) c.1002G>T (p.Lys334Asn) c.972G>T (p.Lys324Asn) | |
| 5 | g.149883515C>G | CA361692648 | PDE6A | c.2049G>C (p.Lys683Asn) n.2233G>C c.1806G>C (p.Lys602Asn) c.1503G>C (p.Lys501Asn) c.1164G>C (p.Lys388Asn) c.1002G>C (p.Lys334Asn) c.972G>C (p.Lys324Asn) | |
| 5 | g.149883515C>T | CA447141113 | PDE6A | c.2049G>A (p.Lys683=) n.2233G>A c.1806G>A (p.Lys602=) c.1503G>A (p.Lys501=) c.1164G>A (p.Lys388=) c.1002G>A (p.Lys334=) c.972G>A (p.Lys324=) | |
| 5 | g.149883516T>A | CA361692650 | PDE6A | c.2048A>T (p.Lys683Met) n.2232A>T c.1805A>T (p.Lys602Met) c.1502A>T (p.Lys501Met) c.1163A>T (p.Lys388Met) c.1001A>T (p.Lys334Met) c.971A>T (p.Lys324Met) | |
| 5 | g.149883516T>C | CA361692652 | PDE6A | c.2048A>G (p.Lys683Arg) n.2232A>G c.1805A>G (p.Lys602Arg) c.1502A>G (p.Lys501Arg) c.1163A>G (p.Lys388Arg) c.1001A>G (p.Lys334Arg) c.971A>G (p.Lys324Arg) | |
| 5 | g.149883516T>G | CA361692654 | PDE6A | c.2048A>C (p.Lys683Thr) n.2232A>C c.1805A>C (p.Lys602Thr) c.1502A>C (p.Lys501Thr) c.1163A>C (p.Lys388Thr) c.1001A>C (p.Lys334Thr) c.971A>C (p.Lys324Thr) | ClinVar |
| 5 | g.149883517T>A | CA361692657 | PDE6A | c.2047A>T (p.Lys683Ter) n.2231A>T c.1804A>T (p.Lys602Ter) c.1501A>T (p.Lys501Ter) c.1162A>T (p.Lys388Ter) c.1000A>T (p.Lys334Ter) c.970A>T (p.Lys324Ter) | |
| 5 | g.149883517T>C | CA361692658 | PDE6A | c.2047A>G (p.Lys683Glu) n.2231A>G c.1804A>G (p.Lys602Glu) c.1501A>G (p.Lys501Glu) c.1162A>G (p.Lys388Glu) c.1000A>G (p.Lys334Glu) c.970A>G (p.Lys324Glu) | |
| 5 | g.149883517T>G | CA361692660 | PDE6A | c.2047A>C (p.Lys683Gln) n.2231A>C c.1804A>C (p.Lys602Gln) c.1501A>C (p.Lys501Gln) c.1162A>C (p.Lys388Gln) c.1000A>C (p.Lys334Gln) c.970A>C (p.Lys324Gln) | |
| 5 | g.149883518T>A | CA361692663 | PDE6A | c.2046A>T (p.Gln682His) n.2230A>T c.1803A>T (p.Gln601His) c.1500A>T (p.Gln500His) c.1161A>T (p.Gln387His) c.999A>T (p.Gln333His) c.969A>T (p.Gln323His) | |
| 5 | g.149883518T>C | CA3504418 | PDE6A | c.2046A>G (p.Gln682=) n.2230A>G c.1803A>G (p.Gln601=) c.1500A>G (p.Gln500=) c.1161A>G (p.Gln387=) c.999A>G (p.Gln333=) c.969A>G (p.Gln323=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149883518T>G | CA361692665 | PDE6A | c.2046A>C (p.Gln682His) n.2230A>C c.1803A>C (p.Gln601His) c.1500A>C (p.Gln500His) c.1161A>C (p.Gln387His) c.999A>C (p.Gln333His) c.969A>C (p.Gln323His) | |
| 5 | g.149883518T= | CA1590694640 | PDE6A | c.2046A= (p.Gln682=) n.2230A= c.1803A= (p.Gln601=) c.1500A= (p.Gln500=) c.1161A= (p.Gln387=) c.999A= (p.Gln333=) c.969A= (p.Gln323=) |