| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.117380695dup | CA2976778412 | CEP164 | c.1399dup (p.Leu467ProfsTer25) n.1645dup n.723dup c.1399dup (p.Leu467ProfsTer7) c.3085dup (p.Leu1029ProfsTer25) c.3085dup (p.Leu1029ProfsTer7) c.1321dup (p.Leu441ProfsTer25) c.3085dup (p.Leu1029ProfsTer15) c.3007dup (p.Leu1003ProfsTer7) c.2947dup (p.Leu983ProfsTer7) c.2839dup (p.Leu947ProfsTer7) c.1321dup (p.Leu441ProfsTer7) c.1261dup (p.Leu421ProfsTer7) c.1060dup (p.Leu354ProfsTer7) n.3503dup c.3007dup (p.Leu1003ProfsTer15) c.3007dup (p.Leu1003ProfsTer25) c.2947dup (p.Leu983ProfsTer15) c.2839dup (p.Leu947ProfsTer15) c.1399dup (p.Leu467ProfsTer15) c.1321dup (p.Leu441ProfsTer15) c.1261dup (p.Leu421ProfsTer15) c.1060dup (p.Leu354ProfsTer15) c.1183dup (p.Leu395ProfsTer25) | |
| 11 | g.117380695C>A | CA382741797 | CEP164 | c.1399C>A (p.Leu467Met) n.1645C>A n.723C>A c.3085C>A (p.Leu1029Met) c.1321C>A (p.Leu441Met) c.3007C>A (p.Leu1003Met) c.2947C>A (p.Leu983Met) c.2839C>A (p.Leu947Met) c.1261C>A (p.Leu421Met) c.1060C>A (p.Leu354Met) n.3503C>A c.1183C>A (p.Leu395Met) | |
| 11 | g.117380695C= | CA2003021898 | CEP164 | c.1399C= (p.Leu467=) n.1645C= n.723C= c.3085C= (p.Leu1029=) c.1321C= (p.Leu441=) c.3007C= (p.Leu1003=) c.2947C= (p.Leu983=) c.2839C= (p.Leu947=) c.1261C= (p.Leu421=) c.1060C= (p.Leu354=) n.3503C= c.1183C= (p.Leu395=) | dbSNP |
| 11 | g.117380695C>G | CA382741801 | CEP164 | c.1399C>G (p.Leu467Val) n.1645C>G n.723C>G c.3085C>G (p.Leu1029Val) c.1321C>G (p.Leu441Val) c.3007C>G (p.Leu1003Val) c.2947C>G (p.Leu983Val) c.2839C>G (p.Leu947Val) c.1261C>G (p.Leu421Val) c.1060C>G (p.Leu354Val) n.3503C>G c.1183C>G (p.Leu395Val) | |
| 11 | g.117380695C>T | CA6294728 | CEP164 | c.1399C>T (p.Leu467=) n.1645C>T n.723C>T c.3085C>T (p.Leu1029=) c.1321C>T (p.Leu441=) c.3007C>T (p.Leu1003=) c.2947C>T (p.Leu983=) c.2839C>T (p.Leu947=) c.1261C>T (p.Leu421=) c.1060C>T (p.Leu354=) n.3503C>T c.1183C>T (p.Leu395=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.117380696T>A | CA382741804 | CEP164 | c.1400T>A (p.Leu467Gln) n.1646T>A n.724T>A c.3086T>A (p.Leu1029Gln) c.1322T>A (p.Leu441Gln) c.3008T>A (p.Leu1003Gln) c.2948T>A (p.Leu983Gln) c.2840T>A (p.Leu947Gln) c.1262T>A (p.Leu421Gln) c.1061T>A (p.Leu354Gln) n.3504T>A c.1184T>A (p.Leu395Gln) | |
| 11 | g.117380696T>C | CA382741806 | CEP164 | c.1400T>C (p.Leu467Pro) n.1646T>C n.724T>C c.3086T>C (p.Leu1029Pro) c.1322T>C (p.Leu441Pro) c.3008T>C (p.Leu1003Pro) c.2948T>C (p.Leu983Pro) c.2840T>C (p.Leu947Pro) c.1262T>C (p.Leu421Pro) c.1061T>C (p.Leu354Pro) n.3504T>C c.1184T>C (p.Leu395Pro) | |
| 11 | g.117380696T>G | CA382741809 | CEP164 | c.1400T>G (p.Leu467Arg) n.1646T>G n.724T>G c.3086T>G (p.Leu1029Arg) c.1322T>G (p.Leu441Arg) c.3008T>G (p.Leu1003Arg) c.2948T>G (p.Leu983Arg) c.2840T>G (p.Leu947Arg) c.1262T>G (p.Leu421Arg) c.1061T>G (p.Leu354Arg) n.3504T>G c.1184T>G (p.Leu395Arg) | |
| 11 | g.117380696dup | CA2840367843 | CEP164 | c.1400dup (p.Glu468GlyfsTer24) n.1646dup n.724dup c.1400dup (p.Glu468GlyfsTer6) c.3086dup (p.Glu1030GlyfsTer24) c.3086dup (p.Glu1030GlyfsTer6) c.1322dup (p.Glu442GlyfsTer24) c.3086dup (p.Glu1030GlyfsTer14) c.3008dup (p.Glu1004GlyfsTer6) c.2948dup (p.Glu984GlyfsTer6) c.2840dup (p.Glu948GlyfsTer6) c.1322dup (p.Glu442GlyfsTer6) c.1262dup (p.Glu422GlyfsTer6) c.1061dup (p.Glu355GlyfsTer6) n.3504dup c.3008dup (p.Glu1004GlyfsTer14) c.3008dup (p.Glu1004GlyfsTer24) c.2948dup (p.Glu984GlyfsTer14) c.2840dup (p.Glu948GlyfsTer14) c.1400dup (p.Glu468GlyfsTer14) c.1322dup (p.Glu442GlyfsTer14) c.1262dup (p.Glu422GlyfsTer14) c.1061dup (p.Glu355GlyfsTer14) c.1184dup (p.Glu396GlyfsTer24) | |
| 11 | g.117380697G>A | CA6294729 | CEP164 | c.1401G>A (p.Leu467=) n.1647G>A n.725G>A c.3087G>A (p.Leu1029=) c.1323G>A (p.Leu441=) c.3009G>A (p.Leu1003=) c.2949G>A (p.Leu983=) c.2841G>A (p.Leu947=) c.1263G>A (p.Leu421=) c.1062G>A (p.Leu354=) n.3505G>A c.1185G>A (p.Leu395=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.117380697G>C | CA476898789 | CEP164 | c.1401G>C (p.Leu467=) n.1647G>C n.725G>C c.3087G>C (p.Leu1029=) c.1323G>C (p.Leu441=) c.3009G>C (p.Leu1003=) c.2949G>C (p.Leu983=) c.2841G>C (p.Leu947=) c.1263G>C (p.Leu421=) c.1062G>C (p.Leu354=) n.3505G>C c.1185G>C (p.Leu395=) | |
| 11 | g.117380697G= | CA2003021899 | CEP164 | c.1401G= (p.Leu467=) n.1647G= n.725G= c.3087G= (p.Leu1029=) c.1323G= (p.Leu441=) c.3009G= (p.Leu1003=) c.2949G= (p.Leu983=) c.2841G= (p.Leu947=) c.1263G= (p.Leu421=) c.1062G= (p.Leu354=) n.3505G= c.1185G= (p.Leu395=) | dbSNP |
| 11 | g.117380697G>T | CA476898790 | CEP164 | c.1401G>T (p.Leu467=) n.1647G>T n.725G>T c.3087G>T (p.Leu1029=) c.1323G>T (p.Leu441=) c.3009G>T (p.Leu1003=) c.2949G>T (p.Leu983=) c.2841G>T (p.Leu947=) c.1263G>T (p.Leu421=) c.1062G>T (p.Leu354=) n.3505G>T c.1185G>T (p.Leu395=) | |
| 11 | g.117380698dup | CA2976778414 | CEP164 | c.1402dup (p.Glu468GlyfsTer24) n.1648dup n.726dup c.1402dup (p.Glu468GlyfsTer6) c.3088dup (p.Glu1030GlyfsTer24) c.3088dup (p.Glu1030GlyfsTer6) c.1324dup (p.Glu442GlyfsTer24) c.3088dup (p.Glu1030GlyfsTer14) c.3010dup (p.Glu1004GlyfsTer6) c.2950dup (p.Glu984GlyfsTer6) c.2842dup (p.Glu948GlyfsTer6) c.1324dup (p.Glu442GlyfsTer6) c.1264dup (p.Glu422GlyfsTer6) c.1063dup (p.Glu355GlyfsTer6) n.3506dup c.3010dup (p.Glu1004GlyfsTer14) c.3010dup (p.Glu1004GlyfsTer24) c.2950dup (p.Glu984GlyfsTer14) c.2842dup (p.Glu948GlyfsTer14) c.1402dup (p.Glu468GlyfsTer14) c.1324dup (p.Glu442GlyfsTer14) c.1264dup (p.Glu422GlyfsTer14) c.1063dup (p.Glu355GlyfsTer14) c.1186dup (p.Glu396GlyfsTer24) | |
| 11 | g.117380698del | CA2976778413 | CEP164 | c.1402del (p.Glu468ArgfsTer?) n.1648del n.726del c.3088del (p.Glu1030ArgfsTer?) c.1324del (p.Glu442ArgfsTer?) c.3088del (p.Glu1030ArgfsTer24) c.3088del (p.Glu1030ArgfsTer21) c.3010del (p.Glu1004ArgfsTer24) c.2950del (p.Glu984ArgfsTer24) c.2842del (p.Glu948ArgfsTer24) c.1402del (p.Glu468ArgfsTer24) c.1324del (p.Glu442ArgfsTer24) c.1264del (p.Glu422ArgfsTer24) c.1063del (p.Glu355ArgfsTer24) n.3506del c.3010del (p.Glu1004ArgfsTer21) c.3010del (p.Glu1004ArgfsTer?) c.2950del (p.Glu984ArgfsTer21) c.2842del (p.Glu948ArgfsTer21) c.1402del (p.Glu468ArgfsTer21) c.1324del (p.Glu442ArgfsTer21) c.1264del (p.Glu422ArgfsTer21) c.1063del (p.Glu355ArgfsTer21) c.1186del (p.Glu396ArgfsTer?) | |
| 11 | g.117380698G>A | CA382741811 | CEP164 | c.1402G>A (p.Glu468Lys) n.1648G>A n.726G>A c.3088G>A (p.Glu1030Lys) c.1324G>A (p.Glu442Lys) c.3010G>A (p.Glu1004Lys) c.2950G>A (p.Glu984Lys) c.2842G>A (p.Glu948Lys) c.1264G>A (p.Glu422Lys) c.1063G>A (p.Glu355Lys) n.3506G>A c.1186G>A (p.Glu396Lys) | ClinVar dbSNP |
| 11 | g.117380698G>C | CA382741813 | CEP164 | c.1402G>C (p.Glu468Gln) n.1648G>C n.726G>C c.3088G>C (p.Glu1030Gln) c.1324G>C (p.Glu442Gln) c.3010G>C (p.Glu1004Gln) c.2950G>C (p.Glu984Gln) c.2842G>C (p.Glu948Gln) c.1264G>C (p.Glu422Gln) c.1063G>C (p.Glu355Gln) n.3506G>C c.1186G>C (p.Glu396Gln) | |
| 11 | g.117380698G= | CA2003021900 | CEP164 | c.1402G= (p.Glu468=) n.1648G= n.726G= c.3088G= (p.Glu1030=) c.1324G= (p.Glu442=) c.3010G= (p.Glu1004=) c.2950G= (p.Glu984=) c.2842G= (p.Glu948=) c.1264G= (p.Glu422=) c.1063G= (p.Glu355=) n.3506G= c.1186G= (p.Glu396=) | dbSNP |
| 11 | g.117380698G>T | CA382741815 | CEP164 | c.1402G>T (p.Glu468Ter) n.1648G>T n.726G>T c.3088G>T (p.Glu1030Ter) c.1324G>T (p.Glu442Ter) c.3010G>T (p.Glu1004Ter) c.2950G>T (p.Glu984Ter) c.2842G>T (p.Glu948Ter) c.1264G>T (p.Glu422Ter) c.1063G>T (p.Glu355Ter) n.3506G>T c.1186G>T (p.Glu396Ter) | dbSNP gnomAD v4 |
| 11 | g.117380699A>C | CA382741817 | CEP164 | c.1403A>C (p.Glu468Ala) n.1649A>C n.727A>C c.3089A>C (p.Glu1030Ala) c.1325A>C (p.Glu442Ala) c.3011A>C (p.Glu1004Ala) c.2951A>C (p.Glu984Ala) c.2843A>C (p.Glu948Ala) c.1265A>C (p.Glu422Ala) c.1064A>C (p.Glu355Ala) n.3507A>C c.1187A>C (p.Glu396Ala) | |
| 11 | g.117380699A>G | CA382741820 | CEP164 | c.1403A>G (p.Glu468Gly) n.1649A>G n.727A>G c.3089A>G (p.Glu1030Gly) c.1325A>G (p.Glu442Gly) c.3011A>G (p.Glu1004Gly) c.2951A>G (p.Glu984Gly) c.2843A>G (p.Glu948Gly) c.1265A>G (p.Glu422Gly) c.1064A>G (p.Glu355Gly) n.3507A>G c.1187A>G (p.Glu396Gly) | |
| 11 | g.117380699A>T | CA382741819 | CEP164 | c.1403A>T (p.Glu468Val) n.1649A>T n.727A>T c.3089A>T (p.Glu1030Val) c.1325A>T (p.Glu442Val) c.3011A>T (p.Glu1004Val) c.2951A>T (p.Glu984Val) c.2843A>T (p.Glu948Val) c.1265A>T (p.Glu422Val) c.1064A>T (p.Glu355Val) n.3507A>T c.1187A>T (p.Glu396Val) | |
| 11 | g.117380700G>A | CA476898794 | CEP164 | c.1404G>A (p.Glu468=) n.1650G>A n.728G>A c.3090G>A (p.Glu1030=) c.1326G>A (p.Glu442=) c.3012G>A (p.Glu1004=) c.2952G>A (p.Glu984=) c.2844G>A (p.Glu948=) c.1266G>A (p.Glu422=) c.1065G>A (p.Glu355=) n.3508G>A c.1188G>A (p.Glu396=) | gnomAD v4 |
| 11 | g.117380700G>C | CA382741822 | CEP164 | c.1404G>C (p.Glu468Asp) n.1650G>C n.728G>C c.3090G>C (p.Glu1030Asp) c.1326G>C (p.Glu442Asp) c.3012G>C (p.Glu1004Asp) c.2952G>C (p.Glu984Asp) c.2844G>C (p.Glu948Asp) c.1266G>C (p.Glu422Asp) c.1065G>C (p.Glu355Asp) n.3508G>C c.1188G>C (p.Glu396Asp) | |
| 11 | g.117380700G>T | CA382741825 | CEP164 | c.1404G>T (p.Glu468Asp) n.1650G>T n.728G>T c.3090G>T (p.Glu1030Asp) c.1326G>T (p.Glu442Asp) c.3012G>T (p.Glu1004Asp) c.2952G>T (p.Glu984Asp) c.2844G>T (p.Glu948Asp) c.1266G>T (p.Glu422Asp) c.1065G>T (p.Glu355Asp) n.3508G>T c.1188G>T (p.Glu396Asp) | |
| 11 | g.117380701G>A | CA382741827 | CEP164 | c.1405G>A (p.Glu469Lys) n.1651G>A n.729G>A c.3091G>A (p.Glu1031Lys) c.1327G>A (p.Glu443Lys) c.3013G>A (p.Glu1005Lys) c.2953G>A (p.Glu985Lys) c.2845G>A (p.Glu949Lys) c.1267G>A (p.Glu423Lys) c.1066G>A (p.Glu356Lys) n.3509G>A c.1189G>A (p.Glu397Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.117380701G>C | CA382741829 | CEP164 | c.1405G>C (p.Glu469Gln) n.1651G>C n.729G>C c.3091G>C (p.Glu1031Gln) c.1327G>C (p.Glu443Gln) c.3013G>C (p.Glu1005Gln) c.2953G>C (p.Glu985Gln) c.2845G>C (p.Glu949Gln) c.1267G>C (p.Glu423Gln) c.1066G>C (p.Glu356Gln) n.3509G>C c.1189G>C (p.Glu397Gln) | |
| 11 | g.117380701G= | CA2003021901 | CEP164 | c.1405G= (p.Glu469=) n.1651G= n.729G= c.3091G= (p.Glu1031=) c.1327G= (p.Glu443=) c.3013G= (p.Glu1005=) c.2953G= (p.Glu985=) c.2845G= (p.Glu949=) c.1267G= (p.Glu423=) c.1066G= (p.Glu356=) n.3509G= c.1189G= (p.Glu397=) | dbSNP |
| 11 | g.117380701G>T | CA382741830 | CEP164 | c.1405G>T (p.Glu469Ter) n.1651G>T n.729G>T c.3091G>T (p.Glu1031Ter) c.1327G>T (p.Glu443Ter) c.3013G>T (p.Glu1005Ter) c.2953G>T (p.Glu985Ter) c.2845G>T (p.Glu949Ter) c.1267G>T (p.Glu423Ter) c.1066G>T (p.Glu356Ter) n.3509G>T c.1189G>T (p.Glu397Ter) | |
| 11 | g.117380704_117380705dup | CA2616176289 | CEP164 | c.1408_1409dup (p.Leu471GlyfsTer?) n.1654_1655dup n.732_733dup c.1408_1409dup (p.Tyr471GlyfsTer?) c.3094_3095dup (p.Leu1033GlyfsTer?) c.3094_3095dup (p.Tyr1033GlyfsTer?) c.1330_1331dup (p.Leu445GlyfsTer?) c.3094_3095dup (p.Tyr1033GlyfsTer22) c.3094_3095dup (p.Ser1032ArgfsTer20) c.3016_3017dup (p.Tyr1007GlyfsTer22) c.2956_2957dup (p.Tyr987GlyfsTer22) c.2848_2849dup (p.Tyr951GlyfsTer22) c.1408_1409dup (p.Tyr471GlyfsTer22) c.1330_1331dup (p.Tyr445GlyfsTer22) c.1270_1271dup (p.Tyr425GlyfsTer22) c.1069_1070dup (p.Tyr358GlyfsTer22) n.3512_3513dup c.3016_3017dup (p.Ser1006ArgfsTer20) c.3016_3017dup (p.Leu1007GlyfsTer?) c.2956_2957dup (p.Ser986ArgfsTer20) c.2848_2849dup (p.Ser950ArgfsTer20) c.1408_1409dup (p.Ser470ArgfsTer20) c.1330_1331dup (p.Ser444ArgfsTer20) c.1270_1271dup (p.Ser424ArgfsTer20) c.1069_1070dup (p.Ser357ArgfsTer20) c.1192_1193dup (p.Leu399GlyfsTer?) | dbSNP gnomAD v4 |
| 11 | g.117380702A= | CA2003021902 | CEP164 | c.1406A= (p.Glu469=) n.1652A= n.730A= c.3092A= (p.Glu1031=) c.1328A= (p.Glu443=) c.3014A= (p.Glu1005=) c.2954A= (p.Glu985=) c.2846A= (p.Glu949=) c.1268A= (p.Glu423=) c.1067A= (p.Glu356=) n.3510A= c.1190A= (p.Glu397=) | dbSNP |
| 11 | g.117380702A>C | CA382741834 | CEP164 | c.1406A>C (p.Glu469Ala) n.1652A>C n.730A>C c.3092A>C (p.Glu1031Ala) c.1328A>C (p.Glu443Ala) c.3014A>C (p.Glu1005Ala) c.2954A>C (p.Glu985Ala) c.2846A>C (p.Glu949Ala) c.1268A>C (p.Glu423Ala) c.1067A>C (p.Glu356Ala) n.3510A>C c.1190A>C (p.Glu397Ala) | |
| 11 | g.117380702A>G | CA382741836 | CEP164 | c.1406A>G (p.Glu469Gly) n.1652A>G n.730A>G c.3092A>G (p.Glu1031Gly) c.1328A>G (p.Glu443Gly) c.3014A>G (p.Glu1005Gly) c.2954A>G (p.Glu985Gly) c.2846A>G (p.Glu949Gly) c.1268A>G (p.Glu423Gly) c.1067A>G (p.Glu356Gly) n.3510A>G c.1190A>G (p.Glu397Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.117380702A>T | CA382741838 | CEP164 | c.1406A>T (p.Glu469Val) n.1652A>T n.730A>T c.3092A>T (p.Glu1031Val) c.1328A>T (p.Glu443Val) c.3014A>T (p.Glu1005Val) c.2954A>T (p.Glu985Val) c.2846A>T (p.Glu949Val) c.1268A>T (p.Glu423Val) c.1067A>T (p.Glu356Val) n.3510A>T c.1190A>T (p.Glu397Val) | |
| 11 | g.117380703G>A | CA476898797 | CEP164 | c.1407G>A (p.Glu469=) n.1653G>A n.731G>A c.3093G>A (p.Glu1031=) c.1329G>A (p.Glu443=) c.3015G>A (p.Glu1005=) c.2955G>A (p.Glu985=) c.2847G>A (p.Glu949=) c.1269G>A (p.Glu423=) c.1068G>A (p.Glu356=) n.3511G>A c.1191G>A (p.Glu397=) | |
| 11 | g.117380703G>C | CA382741839 | CEP164 | c.1407G>C (p.Glu469Asp) n.1653G>C n.731G>C c.3093G>C (p.Glu1031Asp) c.1329G>C (p.Glu443Asp) c.3015G>C (p.Glu1005Asp) c.2955G>C (p.Glu985Asp) c.2847G>C (p.Glu949Asp) c.1269G>C (p.Glu423Asp) c.1068G>C (p.Glu356Asp) n.3511G>C c.1191G>C (p.Glu397Asp) | |
| 11 | g.117380703G>T | CA382741840 | CEP164 | c.1407G>T (p.Glu469Asp) n.1653G>T n.731G>T c.3093G>T (p.Glu1031Asp) c.1329G>T (p.Glu443Asp) c.3015G>T (p.Glu1005Asp) c.2955G>T (p.Glu985Asp) c.2847G>T (p.Glu949Asp) c.1269G>T (p.Glu423Asp) c.1068G>T (p.Glu356Asp) n.3511G>T c.1191G>T (p.Glu397Asp) | |
| 11 | g.117380704A= | CA3191364046 | CEP164 | c.1408A= (p.Arg470=) n.1654A= n.732A= c.3094A= (p.Arg1032=) c.1330A= (p.Arg444=) c.3094A= (p.Ser1032=) c.3016A= (p.Arg1006=) c.2956A= (p.Arg986=) c.2848A= (p.Arg950=) c.1270A= (p.Arg424=) c.1069A= (p.Arg357=) n.3512A= c.3016A= (p.Ser1006=) c.2956A= (p.Ser986=) c.2848A= (p.Ser950=) c.1408A= (p.Ser470=) c.1330A= (p.Ser444=) c.1270A= (p.Ser424=) c.1069A= (p.Ser357=) c.1192A= (p.Arg398=) | dbSNP |
| 11 | g.117380704A>C | CA476898798 | CEP164 | c.1408A>C (p.Arg470=) n.1654A>C n.732A>C c.3094A>C (p.Arg1032=) c.1330A>C (p.Arg444=) c.3094A>C (p.Ser1032Arg) c.3016A>C (p.Arg1006=) c.2956A>C (p.Arg986=) c.2848A>C (p.Arg950=) c.1270A>C (p.Arg424=) c.1069A>C (p.Arg357=) n.3512A>C c.3016A>C (p.Ser1006Arg) c.2956A>C (p.Ser986Arg) c.2848A>C (p.Ser950Arg) c.1408A>C (p.Ser470Arg) c.1330A>C (p.Ser444Arg) c.1270A>C (p.Ser424Arg) c.1069A>C (p.Ser357Arg) c.1192A>C (p.Arg398=) | |
| 11 | g.117380704A>G | CA382741842 | CEP164 | c.1408A>G (p.Arg470Gly) n.1654A>G n.732A>G c.3094A>G (p.Arg1032Gly) c.1330A>G (p.Arg444Gly) c.3094A>G (p.Ser1032Gly) c.3016A>G (p.Arg1006Gly) c.2956A>G (p.Arg986Gly) c.2848A>G (p.Arg950Gly) c.1270A>G (p.Arg424Gly) c.1069A>G (p.Arg357Gly) n.3512A>G c.3016A>G (p.Ser1006Gly) c.2956A>G (p.Ser986Gly) c.2848A>G (p.Ser950Gly) c.1408A>G (p.Ser470Gly) c.1330A>G (p.Ser444Gly) c.1270A>G (p.Ser424Gly) c.1069A>G (p.Ser357Gly) c.1192A>G (p.Arg398Gly) | dbSNP gnomAD v4 |
| 11 | g.117380704A>T | CA382741844 | CEP164 | c.1408A>T (p.Arg470Trp) n.1654A>T n.732A>T c.3094A>T (p.Arg1032Trp) c.1330A>T (p.Arg444Trp) c.3094A>T (p.Ser1032Cys) c.3016A>T (p.Arg1006Trp) c.2956A>T (p.Arg986Trp) c.2848A>T (p.Arg950Trp) c.1270A>T (p.Arg424Trp) c.1069A>T (p.Arg357Trp) n.3512A>T c.3016A>T (p.Ser1006Cys) c.2956A>T (p.Ser986Cys) c.2848A>T (p.Ser950Cys) c.1408A>T (p.Ser470Cys) c.1330A>T (p.Ser444Cys) c.1270A>T (p.Ser424Cys) c.1069A>T (p.Ser357Cys) c.1192A>T (p.Arg398Trp) | |
| 11 | g.117380705G>A | CA382741846 | CEP164 | c.1409G>A (p.Arg470Lys) n.1655G>A n.733G>A c.3095G>A (p.Arg1032Lys) c.1331G>A (p.Arg444Lys) c.3095G>A (p.Ser1032Asn) c.3017G>A (p.Arg1006Lys) c.2957G>A (p.Arg986Lys) c.2849G>A (p.Arg950Lys) c.1271G>A (p.Arg424Lys) c.1070G>A (p.Arg357Lys) n.3513G>A c.3017G>A (p.Ser1006Asn) c.2957G>A (p.Ser986Asn) c.2849G>A (p.Ser950Asn) c.1409G>A (p.Ser470Asn) c.1331G>A (p.Ser444Asn) c.1271G>A (p.Ser424Asn) c.1070G>A (p.Ser357Asn) c.1193G>A (p.Arg398Lys) | |
| 11 | g.117380705G>C | CA382741847 | CEP164 | c.1409G>C (p.Arg470Thr) n.1655G>C n.733G>C c.3095G>C (p.Arg1032Thr) c.1331G>C (p.Arg444Thr) c.3095G>C (p.Ser1032Thr) c.3017G>C (p.Arg1006Thr) c.2957G>C (p.Arg986Thr) c.2849G>C (p.Arg950Thr) c.1271G>C (p.Arg424Thr) c.1070G>C (p.Arg357Thr) n.3513G>C c.3017G>C (p.Ser1006Thr) c.2957G>C (p.Ser986Thr) c.2849G>C (p.Ser950Thr) c.1409G>C (p.Ser470Thr) c.1331G>C (p.Ser444Thr) c.1271G>C (p.Ser424Thr) c.1070G>C (p.Ser357Thr) c.1193G>C (p.Arg398Thr) | |
| 11 | g.117380705G>T | CA382741849 | CEP164 | c.1409G>T (p.Arg470Met) n.1655G>T n.733G>T c.3095G>T (p.Arg1032Met) c.1331G>T (p.Arg444Met) c.3095G>T (p.Ser1032Ile) c.3017G>T (p.Arg1006Met) c.2957G>T (p.Arg986Met) c.2849G>T (p.Arg950Met) c.1271G>T (p.Arg424Met) c.1070G>T (p.Arg357Met) n.3513G>T c.3017G>T (p.Ser1006Ile) c.2957G>T (p.Ser986Ile) c.2849G>T (p.Ser950Ile) c.1409G>T (p.Ser470Ile) c.1331G>T (p.Ser444Ile) c.1271G>T (p.Ser424Ile) c.1070G>T (p.Ser357Ile) c.1193G>T (p.Arg398Met) | |
| 11 | g.117380706G>A | CA382741856 | CEP164 | c.1409+1G>A (n.1409+1G>A) n.1656G>A n.733+1G>A c.1410G>A (p.Arg470=) c.3095+1G>A (n.3095+1G>A) c.3096G>A (p.Arg1032=) c.1331+1G>A (n.1331+1G>A) c.3018G>A (p.Arg1006=) c.2958G>A (p.Arg986=) c.2850G>A (p.Arg950=) c.1332G>A (p.Arg444=) c.1272G>A (p.Arg424=) c.1071G>A (p.Arg357=) n.3514G>A n.3513+1G>A c.3017+1G>A (n.3017+1G>A) c.2957+1G>A (n.2957+1G>A) c.2849+1G>A (n.2849+1G>A) c.1271+1G>A (n.1271+1G>A) c.1070+1G>A (n.1070+1G>A) c.1193+1G>A (n.1193+1G>A) | |
| 11 | g.117380706G>C | CA382741851 | CEP164 | c.1409+1G>C (n.1409+1G>C) n.1656G>C n.733+1G>C c.1410G>C (p.Arg470Ser) c.3095+1G>C (n.3095+1G>C) c.3096G>C (p.Arg1032Ser) c.1331+1G>C (n.1331+1G>C) c.3018G>C (p.Arg1006Ser) c.2958G>C (p.Arg986Ser) c.2850G>C (p.Arg950Ser) c.1332G>C (p.Arg444Ser) c.1272G>C (p.Arg424Ser) c.1071G>C (p.Arg357Ser) n.3514G>C n.3513+1G>C c.3017+1G>C (n.3017+1G>C) c.2957+1G>C (n.2957+1G>C) c.2849+1G>C (n.2849+1G>C) c.1271+1G>C (n.1271+1G>C) c.1070+1G>C (n.1070+1G>C) c.1193+1G>C (n.1193+1G>C) | gnomAD v4 |
| 11 | g.117380706G>T | CA382741853 | CEP164 | c.1409+1G>T (n.1409+1G>T) n.1656G>T n.733+1G>T c.1410G>T (p.Arg470Ser) c.3095+1G>T (n.3095+1G>T) c.3096G>T (p.Arg1032Ser) c.1331+1G>T (n.1331+1G>T) c.3018G>T (p.Arg1006Ser) c.2958G>T (p.Arg986Ser) c.2850G>T (p.Arg950Ser) c.1332G>T (p.Arg444Ser) c.1272G>T (p.Arg424Ser) c.1071G>T (p.Arg357Ser) n.3514G>T n.3513+1G>T c.3017+1G>T (n.3017+1G>T) c.2957+1G>T (n.2957+1G>T) c.2849+1G>T (n.2849+1G>T) c.1271+1G>T (n.1271+1G>T) c.1070+1G>T (n.1070+1G>T) c.1193+1G>T (n.1193+1G>T) | |
| 11 | g.117380707T>A | CA382741857 | CEP164 | c.1409+2T>A (n.1409+2T>A) n.1657T>A n.733+2T>A c.1411T>A (p.Tyr471Asn) c.3095+2T>A (n.3095+2T>A) c.3097T>A (p.Tyr1033Asn) c.1331+2T>A (n.1331+2T>A) c.3019T>A (p.Tyr1007Asn) c.2959T>A (p.Tyr987Asn) c.2851T>A (p.Tyr951Asn) c.1333T>A (p.Tyr445Asn) c.1273T>A (p.Tyr425Asn) c.1072T>A (p.Tyr358Asn) n.3515T>A n.3513+2T>A c.3017+2T>A (n.3017+2T>A) c.2957+2T>A (n.2957+2T>A) c.2849+2T>A (n.2849+2T>A) c.1271+2T>A (n.1271+2T>A) c.1070+2T>A (n.1070+2T>A) c.1193+2T>A (n.1193+2T>A) | |
| 11 | g.117380707T>C | CA382741859 | CEP164 | c.1409+2T>C (n.1409+2T>C) n.1657T>C n.733+2T>C c.1411T>C (p.Tyr471His) c.3095+2T>C (n.3095+2T>C) c.3097T>C (p.Tyr1033His) c.1331+2T>C (n.1331+2T>C) c.3019T>C (p.Tyr1007His) c.2959T>C (p.Tyr987His) c.2851T>C (p.Tyr951His) c.1333T>C (p.Tyr445His) c.1273T>C (p.Tyr425His) c.1072T>C (p.Tyr358His) n.3515T>C n.3513+2T>C c.3017+2T>C (n.3017+2T>C) c.2957+2T>C (n.2957+2T>C) c.2849+2T>C (n.2849+2T>C) c.1271+2T>C (n.1271+2T>C) c.1070+2T>C (n.1070+2T>C) c.1193+2T>C (n.1193+2T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.117380707T>G | CA382741860 | CEP164 | c.1409+2T>G (n.1409+2T>G) n.1657T>G n.733+2T>G c.1411T>G (p.Tyr471Asp) c.3095+2T>G (n.3095+2T>G) c.3097T>G (p.Tyr1033Asp) c.1331+2T>G (n.1331+2T>G) c.3019T>G (p.Tyr1007Asp) c.2959T>G (p.Tyr987Asp) c.2851T>G (p.Tyr951Asp) c.1333T>G (p.Tyr445Asp) c.1273T>G (p.Tyr425Asp) c.1072T>G (p.Tyr358Asp) n.3515T>G n.3513+2T>G c.3017+2T>G (n.3017+2T>G) c.2957+2T>G (n.2957+2T>G) c.2849+2T>G (n.2849+2T>G) c.1271+2T>G (n.1271+2T>G) c.1070+2T>G (n.1070+2T>G) c.1193+2T>G (n.1193+2T>G) | gnomAD v4 |