WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88089032C>A | CA385999957 | CEP290 | c.4029G>T (p.Lys1343Asn) c.1313G>T c.*2200G>T (n.*2200G>T) n.2389G>T c.4008G>T (p.Lys1336Asn) c.4890G>T (p.Lys1630Asn) n.4256G>T c.4797G>T (p.Lys1599Asn) n.2957G>T n.9755G>T c.*1942G>T (n.*1942G>T) c.4035G>T (p.Lys1345Asn) c.1209G>T (p.Lys403Asn) c.4122G>T (p.Lys1374Asn) c.3351G>T (p.Lys1117Asn) n.5234G>T | |
| 12 | g.88089032C= | CA2052918235 | CEP290 | c.4029G= (p.Lys1343=) c.1313G= c.*2200G= (n.*2200G=) n.2389G= c.4008G= (p.Lys1336=) c.4890G= (p.Lys1630=) n.4256G= c.4797G= (p.Lys1599=) n.2957G= n.9755G= c.*1942G= (n.*1942G=) c.4035G= (p.Lys1345=) c.1209G= (p.Lys403=) c.4122G= (p.Lys1374=) c.3351G= (p.Lys1117=) n.5234G= | |
| 12 | g.88089032C>G | CA385999959 | CEP290 | c.4029G>C (p.Lys1343Asn) c.1313G>C c.*2200G>C (n.*2200G>C) n.2389G>C c.4008G>C (p.Lys1336Asn) c.4890G>C (p.Lys1630Asn) n.4256G>C c.4797G>C (p.Lys1599Asn) n.2957G>C n.9755G>C c.*1942G>C (n.*1942G>C) c.4035G>C (p.Lys1345Asn) c.1209G>C (p.Lys403Asn) c.4122G>C (p.Lys1374Asn) c.3351G>C (p.Lys1117Asn) n.5234G>C | |
| 12 | g.88089032C>T | CA16043895 | CEP290 | c.4029G>A (p.Lys1343=) c.1313G>A c.*2200G>A (n.*2200G>A) n.2389G>A c.4008G>A (p.Lys1336=) c.4890G>A (p.Lys1630=) n.4256G>A c.4797G>A (p.Lys1599=) n.2957G>A n.9755G>A c.*1942G>A (n.*1942G>A) c.4035G>A (p.Lys1345=) c.1209G>A (p.Lys403=) c.4122G>A (p.Lys1374=) c.3351G>A (p.Lys1117=) n.5234G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.88089032_88089033delinsCT | CA2052918236 | CEP290 | c.4028_4029delinsAG (p.Lys1343=) c.1312_1313delinsAG c.*2199_*2200delinsAG (n.*2199_*2200delinsAG) n.2388_2389delinsAG c.4007_4008delinsAG (p.Lys1336=) c.4889_4890delinsAG (p.Lys1630=) n.4255_4256delinsAG c.4796_4797delinsAG (p.Lys1599=) n.2956_2957delinsAG n.9754_9755delinsAG c.*1941_*1942delinsAG (n.*1941_*1942delinsAG) c.4034_4035delinsAG (p.Lys1345=) c.1208_1209delinsAG (p.Lys403=) c.4121_4122delinsAG (p.Lys1374=) c.3350_3351delinsAG (p.Lys1117=) n.5233_5234delinsAG | |
| 12 | g.88089033T>A | CA385999962 | CEP290 | c.4028A>T (p.Lys1343Met) c.1312A>T c.*2199A>T (n.*2199A>T) n.2388A>T c.4007A>T (p.Lys1336Met) c.4889A>T (p.Lys1630Met) n.4255A>T c.4796A>T (p.Lys1599Met) n.2956A>T n.9754A>T c.*1941A>T (n.*1941A>T) c.4034A>T (p.Lys1345Met) c.1208A>T (p.Lys403Met) c.4121A>T (p.Lys1374Met) c.3350A>T (p.Lys1117Met) n.5233A>T | gnomAD v3 gnomAD v4 |
| 12 | g.88089033T>C | CA385999964 | CEP290 | c.4028A>G (p.Lys1343Arg) c.1312A>G c.*2199A>G (n.*2199A>G) n.2388A>G c.4007A>G (p.Lys1336Arg) c.4889A>G (p.Lys1630Arg) n.4255A>G c.4796A>G (p.Lys1599Arg) n.2956A>G n.9754A>G c.*1941A>G (n.*1941A>G) c.4034A>G (p.Lys1345Arg) c.1208A>G (p.Lys403Arg) c.4121A>G (p.Lys1374Arg) c.3350A>G (p.Lys1117Arg) n.5233A>G | |
| 12 | g.88089033T>G | CA385999966 | CEP290 | c.4028A>C (p.Lys1343Thr) c.1312A>C c.*2199A>C (n.*2199A>C) n.2388A>C c.4007A>C (p.Lys1336Thr) c.4889A>C (p.Lys1630Thr) n.4255A>C c.4796A>C (p.Lys1599Thr) n.2956A>C n.9754A>C c.*1941A>C (n.*1941A>C) c.4034A>C (p.Lys1345Thr) c.1208A>C (p.Lys403Thr) c.4121A>C (p.Lys1374Thr) c.3350A>C (p.Lys1117Thr) n.5233A>C | |
| 12 | g.88089036del | CA606675525 | CEP290 | c.4028del (p.Lys1343ArgfsTer2) c.1312del c.*2199del (n.*2199del) n.2388del c.4007del (p.Lys1336ArgfsTer2) c.4889del (p.Lys1630ArgfsTer2) n.4255del c.4796del (p.Lys1599ArgfsTer2) n.2956del n.9754del c.*1941del (n.*1941del) c.4034del (p.Lys1345ArgfsTer2) c.1208del (p.Lys403ArgfsTer2) c.4121del (p.Lys1374ArgfsTer2) c.3350del (p.Lys1117ArgfsTer2) n.5233del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.88089034T>A | CA385999969 | CEP290 | c.4027A>T (p.Lys1343Ter) c.1311A>T c.*2198A>T (n.*2198A>T) n.2387A>T c.4006A>T (p.Lys1336Ter) c.4888A>T (p.Lys1630Ter) n.4254A>T c.4795A>T (p.Lys1599Ter) n.2955A>T n.9753A>T c.*1940A>T (n.*1940A>T) c.4033A>T (p.Lys1345Ter) c.1207A>T (p.Lys403Ter) c.4120A>T (p.Lys1374Ter) c.3349A>T (p.Lys1117Ter) n.5232A>T | |
| 12 | g.88089034T>C | CA385999974 | CEP290 | c.4027A>G (p.Lys1343Glu) c.1311A>G c.*2198A>G (n.*2198A>G) n.2387A>G c.4006A>G (p.Lys1336Glu) c.4888A>G (p.Lys1630Glu) n.4254A>G c.4795A>G (p.Lys1599Glu) n.2955A>G n.9753A>G c.*1940A>G (n.*1940A>G) c.4033A>G (p.Lys1345Glu) c.1207A>G (p.Lys403Glu) c.4120A>G (p.Lys1374Glu) c.3349A>G (p.Lys1117Glu) n.5232A>G | |
| 12 | g.88089034T>G | CA385999972 | CEP290 | c.4027A>C (p.Lys1343Gln) c.1311A>C c.*2198A>C (n.*2198A>C) n.2387A>C c.4006A>C (p.Lys1336Gln) c.4888A>C (p.Lys1630Gln) n.4254A>C c.4795A>C (p.Lys1599Gln) n.2955A>C n.9753A>C c.*1940A>C (n.*1940A>C) c.4033A>C (p.Lys1345Gln) c.1207A>C (p.Lys403Gln) c.4120A>C (p.Lys1374Gln) c.3349A>C (p.Lys1117Gln) n.5232A>C | |
| 12 | g.88089035T>A | CA385999976 | CEP290 | c.4026A>T (p.Gln1342His) c.1310A>T c.*2197A>T (n.*2197A>T) n.2386A>T c.4005A>T (p.Gln1335His) c.4887A>T (p.Gln1629His) n.4253A>T c.4794A>T (p.Gln1598His) n.2954A>T n.9752A>T c.*1939A>T (n.*1939A>T) c.4032A>T (p.Gln1344His) c.1206A>T (p.Gln402His) c.4119A>T (p.Gln1373His) c.3348A>T (p.Gln1116His) n.5231A>T | |
| 12 | g.88089035T>C | CA481303736 | CEP290 | c.4026A>G (p.Gln1342=) c.1310A>G c.*2197A>G (n.*2197A>G) n.2386A>G c.4005A>G (p.Gln1335=) c.4887A>G (p.Gln1629=) n.4253A>G c.4794A>G (p.Gln1598=) n.2954A>G n.9752A>G c.*1939A>G (n.*1939A>G) c.4032A>G (p.Gln1344=) c.1206A>G (p.Gln402=) c.4119A>G (p.Gln1373=) c.3348A>G (p.Gln1116=) n.5231A>G | |
| 12 | g.88089035T>G | CA385999978 | CEP290 | c.4026A>C (p.Gln1342His) c.1310A>C c.*2197A>C (n.*2197A>C) n.2386A>C c.4005A>C (p.Gln1335His) c.4887A>C (p.Gln1629His) n.4253A>C c.4794A>C (p.Gln1598His) n.2954A>C n.9752A>C c.*1939A>C (n.*1939A>C) c.4032A>C (p.Gln1344His) c.1206A>C (p.Gln402His) c.4119A>C (p.Gln1373His) c.3348A>C (p.Gln1116His) n.5231A>C | |
| 12 | g.88089036T>A | CA385999981 | CEP290 | c.4025A>T (p.Gln1342Leu) c.1309A>T c.*2196A>T (n.*2196A>T) n.2385A>T c.4004A>T (p.Gln1335Leu) c.4886A>T (p.Gln1629Leu) n.4252A>T c.4793A>T (p.Gln1598Leu) n.2953A>T n.9751A>T c.*1938A>T (n.*1938A>T) c.4031A>T (p.Gln1344Leu) c.1205A>T (p.Gln402Leu) c.4118A>T (p.Gln1373Leu) c.3347A>T (p.Gln1116Leu) n.5230A>T | |
| 12 | g.88089036T>C | CA385999983 | CEP290 | c.4025A>G (p.Gln1342Arg) c.1309A>G c.*2196A>G (n.*2196A>G) n.2385A>G c.4004A>G (p.Gln1335Arg) c.4886A>G (p.Gln1629Arg) n.4252A>G c.4793A>G (p.Gln1598Arg) n.2953A>G n.9751A>G c.*1938A>G (n.*1938A>G) c.4031A>G (p.Gln1344Arg) c.1205A>G (p.Gln402Arg) c.4118A>G (p.Gln1373Arg) c.3347A>G (p.Gln1116Arg) n.5230A>G | |
| 12 | g.88089036T>G | CA385999985 | CEP290 | c.4025A>C (p.Gln1342Pro) c.1309A>C c.*2196A>C (n.*2196A>C) n.2385A>C c.4004A>C (p.Gln1335Pro) c.4886A>C (p.Gln1629Pro) n.4252A>C c.4793A>C (p.Gln1598Pro) n.2953A>C n.9751A>C c.*1938A>C (n.*1938A>C) c.4031A>C (p.Gln1344Pro) c.1205A>C (p.Gln402Pro) c.4118A>C (p.Gln1373Pro) c.3347A>C (p.Gln1116Pro) n.5230A>C | dbSNP gnomAD v4 |
| 12 | g.88089037G>A | CA385999988 | CEP290 | c.4024C>T (p.Gln1342Ter) c.1308C>T c.*2195C>T (n.*2195C>T) n.2384C>T c.4003C>T (p.Gln1335Ter) c.4885C>T (p.Gln1629Ter) n.4251C>T c.4792C>T (p.Gln1598Ter) n.2952C>T n.9750C>T c.*1937C>T (n.*1937C>T) c.4030C>T (p.Gln1344Ter) c.1204C>T (p.Gln402Ter) c.4117C>T (p.Gln1373Ter) c.3346C>T (p.Gln1116Ter) n.5229C>T | |
| 12 | g.88089037G>C | CA385999990 | CEP290 | c.4024C>G (p.Gln1342Glu) c.1308C>G c.*2195C>G (n.*2195C>G) n.2384C>G c.4003C>G (p.Gln1335Glu) c.4885C>G (p.Gln1629Glu) n.4251C>G c.4792C>G (p.Gln1598Glu) n.2952C>G n.9750C>G c.*1937C>G (n.*1937C>G) c.4030C>G (p.Gln1344Glu) c.1204C>G (p.Gln402Glu) c.4117C>G (p.Gln1373Glu) c.3346C>G (p.Gln1116Glu) n.5229C>G | |
| 12 | g.88089037G>T | CA385999992 | CEP290 | c.4024C>A (p.Gln1342Lys) c.1308C>A c.*2195C>A (n.*2195C>A) n.2384C>A c.4003C>A (p.Gln1335Lys) c.4885C>A (p.Gln1629Lys) n.4251C>A c.4792C>A (p.Gln1598Lys) n.2952C>A n.9750C>A c.*1937C>A (n.*1937C>A) c.4030C>A (p.Gln1344Lys) c.1204C>A (p.Gln402Lys) c.4117C>A (p.Gln1373Lys) c.3346C>A (p.Gln1116Lys) n.5229C>A | gnomAD v4 |
| 12 | g.88089038G>A | CA481303737 | CEP290 | c.4023C>T (p.Ala1341=) c.1307C>T c.*2194C>T (n.*2194C>T) n.2383C>T c.4002C>T (p.Ala1334=) c.4884C>T (p.Ala1628=) n.4250C>T c.4791C>T (p.Ala1597=) n.2951C>T n.9749C>T c.*1936C>T (n.*1936C>T) c.4029C>T (p.Ala1343=) c.1203C>T (p.Ala401=) c.4116C>T (p.Ala1372=) c.3345C>T (p.Ala1115=) n.5228C>T | |
| 12 | g.88089038G>C | CA481303738 | CEP290 | c.4023C>G (p.Ala1341=) c.1307C>G c.*2194C>G (n.*2194C>G) n.2383C>G c.4002C>G (p.Ala1334=) c.4884C>G (p.Ala1628=) n.4250C>G c.4791C>G (p.Ala1597=) n.2951C>G n.9749C>G c.*1936C>G (n.*1936C>G) c.4029C>G (p.Ala1343=) c.1203C>G (p.Ala401=) c.4116C>G (p.Ala1372=) c.3345C>G (p.Ala1115=) n.5228C>G | |
| 12 | g.88089038G>T | CA481303739 | CEP290 | c.4023C>A (p.Ala1341=) c.1307C>A c.*2194C>A (n.*2194C>A) n.2383C>A c.4002C>A (p.Ala1334=) c.4884C>A (p.Ala1628=) n.4250C>A c.4791C>A (p.Ala1597=) n.2951C>A n.9749C>A c.*1936C>A (n.*1936C>A) c.4029C>A (p.Ala1343=) c.1203C>A (p.Ala401=) c.4116C>A (p.Ala1372=) c.3345C>A (p.Ala1115=) n.5228C>A | gnomAD v4 |
| 12 | g.88089039G>A | CA385999995 | CEP290 | c.4022C>T (p.Ala1341Val) c.1306C>T c.*2193C>T (n.*2193C>T) n.2382C>T c.4001C>T (p.Ala1334Val) c.4883C>T (p.Ala1628Val) n.4249C>T c.4790C>T (p.Ala1597Val) n.2950C>T n.9748C>T c.*1935C>T (n.*1935C>T) c.4028C>T (p.Ala1343Val) c.1202C>T (p.Ala401Val) c.4115C>T (p.Ala1372Val) c.3344C>T (p.Ala1115Val) n.5227C>T | gnomAD v4 |
| 12 | g.88089039G>C | CA385999997 | CEP290 | c.4022C>G (p.Ala1341Gly) c.1306C>G c.*2193C>G (n.*2193C>G) n.2382C>G c.4001C>G (p.Ala1334Gly) c.4883C>G (p.Ala1628Gly) n.4249C>G c.4790C>G (p.Ala1597Gly) n.2950C>G n.9748C>G c.*1935C>G (n.*1935C>G) c.4028C>G (p.Ala1343Gly) c.1202C>G (p.Ala401Gly) c.4115C>G (p.Ala1372Gly) c.3344C>G (p.Ala1115Gly) n.5227C>G | COSMIC |
| 12 | g.88089039G>T | CA385999999 | CEP290 | c.4022C>A (p.Ala1341Asp) c.1306C>A c.*2193C>A (n.*2193C>A) n.2382C>A c.4001C>A (p.Ala1334Asp) c.4883C>A (p.Ala1628Asp) n.4249C>A c.4790C>A (p.Ala1597Asp) n.2950C>A n.9748C>A c.*1935C>A (n.*1935C>A) c.4028C>A (p.Ala1343Asp) c.1202C>A (p.Ala401Asp) c.4115C>A (p.Ala1372Asp) c.3344C>A (p.Ala1115Asp) n.5227C>A | gnomAD v4 |
| 12 | g.88089040C>A | CA386000004 | CEP290 | c.4021G>T (p.Ala1341Ser) c.1305G>T c.*2192G>T (n.*2192G>T) n.2381G>T c.4000G>T (p.Ala1334Ser) c.4882G>T (p.Ala1628Ser) n.4248G>T c.4789G>T (p.Ala1597Ser) n.2949G>T n.9747G>T c.*1934G>T (n.*1934G>T) c.4027G>T (p.Ala1343Ser) c.1201G>T (p.Ala401Ser) c.4114G>T (p.Ala1372Ser) c.3343G>T (p.Ala1115Ser) n.5226G>T | gnomAD v4 |
| 12 | g.88089040C= | CA2052918238 | CEP290 | c.4021G= (p.Ala1341=) c.1305G= c.*2192G= (n.*2192G=) n.2381G= c.4000G= (p.Ala1334=) c.4882G= (p.Ala1628=) n.4248G= c.4789G= (p.Ala1597=) n.2949G= n.9747G= c.*1934G= (n.*1934G=) c.4027G= (p.Ala1343=) c.1201G= (p.Ala401=) c.4114G= (p.Ala1372=) c.3343G= (p.Ala1115=) n.5226G= | |
| 12 | g.88089040C>G | CA386000002 | CEP290 | c.4021G>C (p.Ala1341Pro) c.1305G>C c.*2192G>C (n.*2192G>C) n.2381G>C c.4000G>C (p.Ala1334Pro) c.4882G>C (p.Ala1628Pro) n.4248G>C c.4789G>C (p.Ala1597Pro) n.2949G>C n.9747G>C c.*1934G>C (n.*1934G>C) c.4027G>C (p.Ala1343Pro) c.1201G>C (p.Ala401Pro) c.4114G>C (p.Ala1372Pro) c.3343G>C (p.Ala1115Pro) n.5226G>C | |
| 12 | g.88089040C>T | CA6712048 | CEP290 | c.4021G>A (p.Ala1341Thr) c.1305G>A c.*2192G>A (n.*2192G>A) n.2381G>A c.4000G>A (p.Ala1334Thr) c.4882G>A (p.Ala1628Thr) n.4248G>A c.4789G>A (p.Ala1597Thr) n.2949G>A n.9747G>A c.*1934G>A (n.*1934G>A) c.4027G>A (p.Ala1343Thr) c.1201G>A (p.Ala401Thr) c.4114G>A (p.Ala1372Thr) c.3343G>A (p.Ala1115Thr) n.5226G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.88089041T>A | CA481303740 | CEP290 | c.4020A>T (p.Gly1340=) c.1304A>T c.*2191A>T (n.*2191A>T) n.2380A>T c.3999A>T (p.Gly1333=) c.4881A>T (p.Gly1627=) n.4247A>T c.4788A>T (p.Gly1596=) n.2948A>T n.9746A>T c.*1933A>T (n.*1933A>T) c.4026A>T (p.Gly1342=) c.1200A>T (p.Gly400=) c.4113A>T (p.Gly1371=) c.3342A>T (p.Gly1114=) n.5225A>T | |
| 12 | g.88089041T>C | CA481303741 | CEP290 | c.4020A>G (p.Gly1340=) c.1304A>G c.*2191A>G (n.*2191A>G) n.2380A>G c.3999A>G (p.Gly1333=) c.4881A>G (p.Gly1627=) n.4247A>G c.4788A>G (p.Gly1596=) n.2948A>G n.9746A>G c.*1933A>G (n.*1933A>G) c.4026A>G (p.Gly1342=) c.1200A>G (p.Gly400=) c.4113A>G (p.Gly1371=) c.3342A>G (p.Gly1114=) n.5225A>G | |
| 12 | g.88089041T>G | CA481303742 | CEP290 | c.4020A>C (p.Gly1340=) c.1304A>C c.*2191A>C (n.*2191A>C) n.2380A>C c.3999A>C (p.Gly1333=) c.4881A>C (p.Gly1627=) n.4247A>C c.4788A>C (p.Gly1596=) n.2948A>C n.9746A>C c.*1933A>C (n.*1933A>C) c.4026A>C (p.Gly1342=) c.1200A>C (p.Gly400=) c.4113A>C (p.Gly1371=) c.3342A>C (p.Gly1114=) n.5225A>C | ClinVar |
| 12 | g.88089042C>A | CA386000007 | CEP290 | c.4019G>T (p.Gly1340Val) c.1303G>T c.*2190G>T (n.*2190G>T) n.2379G>T c.3998G>T (p.Gly1333Val) c.4880G>T (p.Gly1627Val) n.4246G>T c.4787G>T (p.Gly1596Val) n.2947G>T n.9745G>T c.*1932G>T (n.*1932G>T) c.4025G>T (p.Gly1342Val) c.1199G>T (p.Gly400Val) c.4112G>T (p.Gly1371Val) c.3341G>T (p.Gly1114Val) n.5224G>T | |
| 12 | g.88089042C>G | CA386000009 | CEP290 | c.4019G>C (p.Gly1340Ala) c.1303G>C c.*2190G>C (n.*2190G>C) n.2379G>C c.3998G>C (p.Gly1333Ala) c.4880G>C (p.Gly1627Ala) n.4246G>C c.4787G>C (p.Gly1596Ala) n.2947G>C n.9745G>C c.*1932G>C (n.*1932G>C) c.4025G>C (p.Gly1342Ala) c.1199G>C (p.Gly400Ala) c.4112G>C (p.Gly1371Ala) c.3341G>C (p.Gly1114Ala) n.5224G>C | |
| 12 | g.88089042C>T | CA386000011 | CEP290 | c.4019G>A (p.Gly1340Glu) c.1303G>A c.*2190G>A (n.*2190G>A) n.2379G>A c.3998G>A (p.Gly1333Glu) c.4880G>A (p.Gly1627Glu) n.4246G>A c.4787G>A (p.Gly1596Glu) n.2947G>A n.9745G>A c.*1932G>A (n.*1932G>A) c.4025G>A (p.Gly1342Glu) c.1199G>A (p.Gly400Glu) c.4112G>A (p.Gly1371Glu) c.3341G>A (p.Gly1114Glu) n.5224G>A | gnomAD v4 |
| 12 | g.88089043C>A | CA386000014 | CEP290 | c.4018G>T (p.Gly1340Ter) c.1302G>T c.*2189G>T (n.*2189G>T) n.2378G>T c.3997G>T (p.Gly1333Ter) c.4879G>T (p.Gly1627Ter) n.4245G>T c.4786G>T (p.Gly1596Ter) n.2946G>T n.9744G>T c.*1931G>T (n.*1931G>T) c.4024G>T (p.Gly1342Ter) c.1198G>T (p.Gly400Ter) c.4111G>T (p.Gly1371Ter) c.3340G>T (p.Gly1114Ter) n.5223G>T | gnomAD v4 |
| 12 | g.88089043C= | CA2052918239 | CEP290 | c.4018G= (p.Gly1340=) c.1302G= c.*2189G= (n.*2189G=) n.2378G= c.3997G= (p.Gly1333=) c.4879G= (p.Gly1627=) n.4245G= c.4786G= (p.Gly1596=) n.2946G= n.9744G= c.*1931G= (n.*1931G=) c.4024G= (p.Gly1342=) c.1198G= (p.Gly400=) c.4111G= (p.Gly1371=) c.3340G= (p.Gly1114=) n.5223G= | |
| 12 | g.88089043C>G | CA241164069 | CEP290 | c.4018G>C (p.Gly1340Arg) c.1302G>C c.*2189G>C (n.*2189G>C) n.2378G>C c.3997G>C (p.Gly1333Arg) c.4879G>C (p.Gly1627Arg) n.4245G>C c.4786G>C (p.Gly1596Arg) n.2946G>C n.9744G>C c.*1931G>C (n.*1931G>C) c.4024G>C (p.Gly1342Arg) c.1198G>C (p.Gly400Arg) c.4111G>C (p.Gly1371Arg) c.3340G>C (p.Gly1114Arg) n.5223G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.88089043C>T | CA386000018 | CEP290 | c.4018G>A (p.Gly1340Arg) c.1302G>A c.*2189G>A (n.*2189G>A) n.2378G>A c.3997G>A (p.Gly1333Arg) c.4879G>A (p.Gly1627Arg) n.4245G>A c.4786G>A (p.Gly1596Arg) n.2946G>A n.9744G>A c.*1931G>A (n.*1931G>A) c.4024G>A (p.Gly1342Arg) c.1198G>A (p.Gly400Arg) c.4111G>A (p.Gly1371Arg) c.3340G>A (p.Gly1114Arg) n.5223G>A | gnomAD v4 |
| 12 | g.88089044T>A | CA386000020 | CEP290 | c.4017A>T (p.Lys1339Asn) c.1301A>T c.*2188A>T (n.*2188A>T) n.2377A>T c.3996A>T (p.Lys1332Asn) c.4878A>T (p.Lys1626Asn) n.4244A>T c.4785A>T (p.Lys1595Asn) n.2945A>T n.9743A>T c.*1930A>T (n.*1930A>T) c.4023A>T (p.Lys1341Asn) c.1197A>T (p.Lys399Asn) c.4110A>T (p.Lys1370Asn) c.3339A>T (p.Lys1113Asn) n.5222A>T | |
| 12 | g.88089044T>C | CA481303743 | CEP290 | c.4017A>G (p.Lys1339=) c.1301A>G c.*2188A>G (n.*2188A>G) n.2377A>G c.3996A>G (p.Lys1332=) c.4878A>G (p.Lys1626=) n.4244A>G c.4785A>G (p.Lys1595=) n.2945A>G n.9743A>G c.*1930A>G (n.*1930A>G) c.4023A>G (p.Lys1341=) c.1197A>G (p.Lys399=) c.4110A>G (p.Lys1370=) c.3339A>G (p.Lys1113=) n.5222A>G | |
| 12 | g.88089044T>G | CA386000021 | CEP290 | c.4017A>C (p.Lys1339Asn) c.1301A>C c.*2188A>C (n.*2188A>C) n.2377A>C c.3996A>C (p.Lys1332Asn) c.4878A>C (p.Lys1626Asn) n.4244A>C c.4785A>C (p.Lys1595Asn) n.2945A>C n.9743A>C c.*1930A>C (n.*1930A>C) c.4023A>C (p.Lys1341Asn) c.1197A>C (p.Lys399Asn) c.4110A>C (p.Lys1370Asn) c.3339A>C (p.Lys1113Asn) n.5222A>C | |
| 12 | g.88089045T>A | CA386000025 | CEP290 | c.4016A>T (p.Lys1339Ile) c.1300A>T c.*2187A>T (n.*2187A>T) n.2376A>T c.3995A>T (p.Lys1332Ile) c.4877A>T (p.Lys1626Ile) n.4243A>T c.4784A>T (p.Lys1595Ile) n.2944A>T n.9742A>T c.*1929A>T (n.*1929A>T) c.4022A>T (p.Lys1341Ile) c.1196A>T (p.Lys399Ile) c.4109A>T (p.Lys1370Ile) c.3338A>T (p.Lys1113Ile) n.5221A>T | |
| 12 | g.88089045T>C | CA386000027 | CEP290 | c.4016A>G (p.Lys1339Arg) c.1300A>G c.*2187A>G (n.*2187A>G) n.2376A>G c.3995A>G (p.Lys1332Arg) c.4877A>G (p.Lys1626Arg) n.4243A>G c.4784A>G (p.Lys1595Arg) n.2944A>G n.9742A>G c.*1929A>G (n.*1929A>G) c.4022A>G (p.Lys1341Arg) c.1196A>G (p.Lys399Arg) c.4109A>G (p.Lys1370Arg) c.3338A>G (p.Lys1113Arg) n.5221A>G | |
| 12 | g.88089045T>G | CA386000029 | CEP290 | c.4016A>C (p.Lys1339Thr) c.1300A>C c.*2187A>C (n.*2187A>C) n.2376A>C c.3995A>C (p.Lys1332Thr) c.4877A>C (p.Lys1626Thr) n.4243A>C c.4784A>C (p.Lys1595Thr) n.2944A>C n.9742A>C c.*1929A>C (n.*1929A>C) c.4022A>C (p.Lys1341Thr) c.1196A>C (p.Lys399Thr) c.4109A>C (p.Lys1370Thr) c.3338A>C (p.Lys1113Thr) n.5221A>C | |
| 12 | g.88089046T>A | CA386000036 | CEP290 | c.4015A>T (p.Lys1339Ter) c.1299A>T c.*2186A>T (n.*2186A>T) n.2375A>T c.3994A>T (p.Lys1332Ter) c.4876A>T (p.Lys1626Ter) n.4242A>T c.4783A>T (p.Lys1595Ter) n.2943A>T n.9741A>T c.*1928A>T (n.*1928A>T) c.4021A>T (p.Lys1341Ter) c.1195A>T (p.Lys399Ter) c.4108A>T (p.Lys1370Ter) c.3337A>T (p.Lys1113Ter) n.5220A>T | |
| 12 | g.88089046T>C | CA386000032 | CEP290 | c.4015A>G (p.Lys1339Glu) c.1299A>G c.*2186A>G (n.*2186A>G) n.2375A>G c.3994A>G (p.Lys1332Glu) c.4876A>G (p.Lys1626Glu) n.4242A>G c.4783A>G (p.Lys1595Glu) n.2943A>G n.9741A>G c.*1928A>G (n.*1928A>G) c.4021A>G (p.Lys1341Glu) c.1195A>G (p.Lys399Glu) c.4108A>G (p.Lys1370Glu) c.3337A>G (p.Lys1113Glu) n.5220A>G | |
| 12 | g.88089046T>G | CA386000034 | CEP290 | c.4015A>C (p.Lys1339Gln) c.1299A>C c.*2186A>C (n.*2186A>C) n.2375A>C c.3994A>C (p.Lys1332Gln) c.4876A>C (p.Lys1626Gln) n.4242A>C c.4783A>C (p.Lys1595Gln) n.2943A>C n.9741A>C c.*1928A>C (n.*1928A>C) c.4021A>C (p.Lys1341Gln) c.1195A>C (p.Lys399Gln) c.4108A>C (p.Lys1370Gln) c.3337A>C (p.Lys1113Gln) n.5220A>C |