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 |
|---|---|---|---|---|---|
| 12 | g.88089157G>A | CA277711 | CEP290 | c.3904C>T (p.Gln1302Ter) c.1188C>T c.*2075C>T (n.*2075C>T) n.2264C>T c.3883C>T (p.Gln1295Ter) c.4765C>T (p.Gln1589Ter) n.4131C>T c.4672C>T (p.Gln1558Ter) n.2832C>T n.9630C>T c.*1817C>T (n.*1817C>T) c.3910C>T (p.Gln1304Ter) c.1084C>T (p.Gln362Ter) c.3997C>T (p.Gln1333Ter) c.3226C>T (p.Gln1076Ter) n.5109C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.88089157G>C | CA386000449 | CEP290 | c.3904C>G (p.Gln1302Glu) c.1188C>G c.*2075C>G (n.*2075C>G) n.2264C>G c.3883C>G (p.Gln1295Glu) c.4765C>G (p.Gln1589Glu) n.4131C>G c.4672C>G (p.Gln1558Glu) n.2832C>G n.9630C>G c.*1817C>G (n.*1817C>G) c.3910C>G (p.Gln1304Glu) c.1084C>G (p.Gln362Glu) c.3997C>G (p.Gln1333Glu) c.3226C>G (p.Gln1076Glu) n.5109C>G | |
| 12 | g.88089157G= | CA2052918402 | CEP290 | c.3904C= (p.Gln1302=) c.1188C= c.*2075C= (n.*2075C=) n.2264C= c.3883C= (p.Gln1295=) c.4765C= (p.Gln1589=) n.4131C= c.4672C= (p.Gln1558=) n.2832C= n.9630C= c.*1817C= (n.*1817C=) c.3910C= (p.Gln1304=) c.1084C= (p.Gln362=) c.3997C= (p.Gln1333=) c.3226C= (p.Gln1076=) n.5109C= | |
| 12 | g.88089157G>T | CA386000450 | CEP290 | c.3904C>A (p.Gln1302Lys) c.1188C>A c.*2075C>A (n.*2075C>A) n.2264C>A c.3883C>A (p.Gln1295Lys) c.4765C>A (p.Gln1589Lys) n.4131C>A c.4672C>A (p.Gln1558Lys) n.2832C>A n.9630C>A c.*1817C>A (n.*1817C>A) c.3910C>A (p.Gln1304Lys) c.1084C>A (p.Gln362Lys) c.3997C>A (p.Gln1333Lys) c.3226C>A (p.Gln1076Lys) n.5109C>A | gnomAD v4 |
| 12 | g.88089158C>A | CA386000451 | CEP290 | c.3903G>T (p.Met1301Ile) c.1187G>T c.*2074G>T (n.*2074G>T) n.2263G>T c.3882G>T (p.Met1294Ile) c.4764G>T (p.Met1588Ile) n.4130G>T c.4671G>T (p.Met1557Ile) n.2831G>T n.9629G>T c.*1816G>T (n.*1816G>T) c.3909G>T (p.Met1303Ile) c.1083G>T (p.Met361Ile) c.3996G>T (p.Met1332Ile) c.3225G>T (p.Met1075Ile) n.5108G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.88089158C= | CA2052918406 | CEP290 | c.3903G= (p.Met1301=) c.1187G= c.*2074G= (n.*2074G=) n.2263G= c.3882G= (p.Met1294=) c.4764G= (p.Met1588=) n.4130G= c.4671G= (p.Met1557=) n.2831G= n.9629G= c.*1816G= (n.*1816G=) c.3909G= (p.Met1303=) c.1083G= (p.Met361=) c.3996G= (p.Met1332=) c.3225G= (p.Met1075=) n.5108G= | |
| 12 | g.88089158C>G | CA386000452 | CEP290 | c.3903G>C (p.Met1301Ile) c.1187G>C c.*2074G>C (n.*2074G>C) n.2263G>C c.3882G>C (p.Met1294Ile) c.4764G>C (p.Met1588Ile) n.4130G>C c.4671G>C (p.Met1557Ile) n.2831G>C n.9629G>C c.*1816G>C (n.*1816G>C) c.3909G>C (p.Met1303Ile) c.1083G>C (p.Met361Ile) c.3996G>C (p.Met1332Ile) c.3225G>C (p.Met1075Ile) n.5108G>C | |
| 12 | g.88089158C>T | CA6712061 | CEP290 | c.3903G>A (p.Met1301Ile) c.1187G>A c.*2074G>A (n.*2074G>A) n.2263G>A c.3882G>A (p.Met1294Ile) c.4764G>A (p.Met1588Ile) n.4130G>A c.4671G>A (p.Met1557Ile) n.2831G>A n.9629G>A c.*1816G>A (n.*1816G>A) c.3909G>A (p.Met1303Ile) c.1083G>A (p.Met361Ile) c.3996G>A (p.Met1332Ile) c.3225G>A (p.Met1075Ile) n.5108G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.88089159A>C | CA386000453 | CEP290 | c.3902T>G (p.Met1301Arg) c.1186T>G c.*2073T>G (n.*2073T>G) n.2262T>G c.3881T>G (p.Met1294Arg) c.4763T>G (p.Met1588Arg) n.4129T>G c.4670T>G (p.Met1557Arg) n.2830T>G n.9628T>G c.*1815T>G (n.*1815T>G) c.3908T>G (p.Met1303Arg) c.1082T>G (p.Met361Arg) c.3995T>G (p.Met1332Arg) c.3224T>G (p.Met1075Arg) n.5107T>G | |
| 12 | g.88089159A>G | CA386000454 | CEP290 | c.3902T>C (p.Met1301Thr) c.1186T>C c.*2073T>C (n.*2073T>C) n.2262T>C c.3881T>C (p.Met1294Thr) c.4763T>C (p.Met1588Thr) n.4129T>C c.4670T>C (p.Met1557Thr) n.2830T>C n.9628T>C c.*1815T>C (n.*1815T>C) c.3908T>C (p.Met1303Thr) c.1082T>C (p.Met361Thr) c.3995T>C (p.Met1332Thr) c.3224T>C (p.Met1075Thr) n.5107T>C | |
| 12 | g.88089159A>T | CA386000455 | CEP290 | c.3902T>A (p.Met1301Lys) c.1186T>A c.*2073T>A (n.*2073T>A) n.2262T>A c.3881T>A (p.Met1294Lys) c.4763T>A (p.Met1588Lys) n.4129T>A c.4670T>A (p.Met1557Lys) n.2830T>A n.9628T>A c.*1815T>A (n.*1815T>A) c.3908T>A (p.Met1303Lys) c.1082T>A (p.Met361Lys) c.3995T>A (p.Met1332Lys) c.3224T>A (p.Met1075Lys) n.5107T>A | gnomAD v4 |
| 12 | g.88089160T>A | CA386000456 | CEP290 | c.3901A>T (p.Met1301Leu) c.1185A>T c.*2072A>T (n.*2072A>T) n.2261A>T c.3880A>T (p.Met1294Leu) c.4762A>T (p.Met1588Leu) n.4128A>T c.4669A>T (p.Met1557Leu) n.2829A>T n.9627A>T c.*1814A>T (n.*1814A>T) c.3907A>T (p.Met1303Leu) c.1081A>T (p.Met361Leu) c.3994A>T (p.Met1332Leu) c.3223A>T (p.Met1075Leu) n.5106A>T | |
| 12 | g.88089160T>C | CA386000458 | CEP290 | c.3901A>G (p.Met1301Val) c.1185A>G c.*2072A>G (n.*2072A>G) n.2261A>G c.3880A>G (p.Met1294Val) c.4762A>G (p.Met1588Val) n.4128A>G c.4669A>G (p.Met1557Val) n.2829A>G n.9627A>G c.*1814A>G (n.*1814A>G) c.3907A>G (p.Met1303Val) c.1081A>G (p.Met361Val) c.3994A>G (p.Met1332Val) c.3223A>G (p.Met1075Val) n.5106A>G | |
| 12 | g.88089160T>G | CA386000457 | CEP290 | c.3901A>C (p.Met1301Leu) c.1185A>C c.*2072A>C (n.*2072A>C) n.2261A>C c.3880A>C (p.Met1294Leu) c.4762A>C (p.Met1588Leu) n.4128A>C c.4669A>C (p.Met1557Leu) n.2829A>C n.9627A>C c.*1814A>C (n.*1814A>C) c.3907A>C (p.Met1303Leu) c.1081A>C (p.Met361Leu) c.3994A>C (p.Met1332Leu) c.3223A>C (p.Met1075Leu) n.5106A>C | |
| 12 | g.88089163_88089167del | CA2695199148 | CEP290 | c.3897_3901del (p.Lys1299AsnfsTer12) c.1181_1185del c.*2068_*2072del (n.*2068_*2072del) n.2257_2261del c.3876_3880del (p.Lys1292AsnfsTer12) c.4758_4762del (p.Lys1586AsnfsTer12) n.4124_4128del c.4665_4669del (p.Lys1555AsnfsTer12) n.2825_2829del n.9623_9627del c.*1810_*1814del (n.*1810_*1814del) c.3903_3907del (p.Lys1301AsnfsTer12) c.1077_1081del (p.Lys359AsnfsTer12) c.3990_3994del (p.Lys1330AsnfsTer12) c.3219_3223del (p.Lys1073AsnfsTer12) n.5102_5106del | ClinVar |
| 12 | g.88089161T>A | CA481304098 | CEP290 | c.3900A>T (p.Ile1300=) c.1184A>T c.*2071A>T (n.*2071A>T) n.2260A>T c.3879A>T (p.Ile1293=) c.4761A>T (p.Ile1587=) n.4127A>T c.4668A>T (p.Ile1556=) n.2828A>T n.9626A>T c.*1813A>T (n.*1813A>T) c.3906A>T (p.Ile1302=) c.1080A>T (p.Ile360=) c.3993A>T (p.Ile1331=) c.3222A>T (p.Ile1074=) n.5105A>T | |
| 12 | g.88089161T>C | CA386000459 | CEP290 | c.3900A>G (p.Ile1300Met) c.1184A>G c.*2071A>G (n.*2071A>G) n.2260A>G c.3879A>G (p.Ile1293Met) c.4761A>G (p.Ile1587Met) n.4127A>G c.4668A>G (p.Ile1556Met) n.2828A>G n.9626A>G c.*1813A>G (n.*1813A>G) c.3906A>G (p.Ile1302Met) c.1080A>G (p.Ile360Met) c.3993A>G (p.Ile1331Met) c.3222A>G (p.Ile1074Met) n.5105A>G | |
| 12 | g.88089161T>G | CA481304102 | CEP290 | c.3900A>C (p.Ile1300=) c.1184A>C c.*2071A>C (n.*2071A>C) n.2260A>C c.3879A>C (p.Ile1293=) c.4761A>C (p.Ile1587=) n.4127A>C c.4668A>C (p.Ile1556=) n.2828A>C n.9626A>C c.*1813A>C (n.*1813A>C) c.3906A>C (p.Ile1302=) c.1080A>C (p.Ile360=) c.3993A>C (p.Ile1331=) c.3222A>C (p.Ile1074=) n.5105A>C | |
| 12 | g.88089162A= | CA2052918409 | CEP290 | c.3899T= (p.Ile1300=) c.1183T= c.*2070T= (n.*2070T=) n.2259T= c.3878T= (p.Ile1293=) c.4760T= (p.Ile1587=) n.4126T= c.4667T= (p.Ile1556=) n.2827T= n.9625T= c.*1812T= (n.*1812T=) c.3905T= (p.Ile1302=) c.1079T= (p.Ile360=) c.3992T= (p.Ile1331=) c.3221T= (p.Ile1074=) n.5104T= | |
| 12 | g.88089162A>C | CA386000460 | CEP290 | c.3899T>G (p.Ile1300Arg) c.1183T>G c.*2070T>G (n.*2070T>G) n.2259T>G c.3878T>G (p.Ile1293Arg) c.4760T>G (p.Ile1587Arg) n.4126T>G c.4667T>G (p.Ile1556Arg) n.2827T>G n.9625T>G c.*1812T>G (n.*1812T>G) c.3905T>G (p.Ile1302Arg) c.1079T>G (p.Ile360Arg) c.3992T>G (p.Ile1331Arg) c.3221T>G (p.Ile1074Arg) n.5104T>G | |
| 12 | g.88089162A>G | CA386000461 | CEP290 | c.3899T>C (p.Ile1300Thr) c.1183T>C c.*2070T>C (n.*2070T>C) n.2259T>C c.3878T>C (p.Ile1293Thr) c.4760T>C (p.Ile1587Thr) n.4126T>C c.4667T>C (p.Ile1556Thr) n.2827T>C n.9625T>C c.*1812T>C (n.*1812T>C) c.3905T>C (p.Ile1302Thr) c.1079T>C (p.Ile360Thr) c.3992T>C (p.Ile1331Thr) c.3221T>C (p.Ile1074Thr) n.5104T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.88089162A>T | CA386000462 | CEP290 | c.3899T>A (p.Ile1300Lys) c.1183T>A c.*2070T>A (n.*2070T>A) n.2259T>A c.3878T>A (p.Ile1293Lys) c.4760T>A (p.Ile1587Lys) n.4126T>A c.4667T>A (p.Ile1556Lys) n.2827T>A n.9625T>A c.*1812T>A (n.*1812T>A) c.3905T>A (p.Ile1302Lys) c.1079T>A (p.Ile360Lys) c.3992T>A (p.Ile1331Lys) c.3221T>A (p.Ile1074Lys) n.5104T>A | |
| 12 | g.88089163T>A | CA386000463 | CEP290 | c.3898A>T (p.Ile1300Leu) c.1182A>T c.*2069A>T (n.*2069A>T) n.2258A>T c.3877A>T (p.Ile1293Leu) c.4759A>T (p.Ile1587Leu) n.4125A>T c.4666A>T (p.Ile1556Leu) n.2826A>T n.9624A>T c.*1811A>T (n.*1811A>T) c.3904A>T (p.Ile1302Leu) c.1078A>T (p.Ile360Leu) c.3991A>T (p.Ile1331Leu) c.3220A>T (p.Ile1074Leu) n.5103A>T | |
| 12 | g.88089163T>C | CA386000464 | CEP290 | c.3898A>G (p.Ile1300Val) c.1182A>G c.*2069A>G (n.*2069A>G) n.2258A>G c.3877A>G (p.Ile1293Val) c.4759A>G (p.Ile1587Val) n.4125A>G c.4666A>G (p.Ile1556Val) n.2826A>G n.9624A>G c.*1811A>G (n.*1811A>G) c.3904A>G (p.Ile1302Val) c.1078A>G (p.Ile360Val) c.3991A>G (p.Ile1331Val) c.3220A>G (p.Ile1074Val) n.5103A>G | |
| 12 | g.88089163T>G | CA386000465 | CEP290 | c.3898A>C (p.Ile1300Leu) c.1182A>C c.*2069A>C (n.*2069A>C) n.2258A>C c.3877A>C (p.Ile1293Leu) c.4759A>C (p.Ile1587Leu) n.4125A>C c.4666A>C (p.Ile1556Leu) n.2826A>C n.9624A>C c.*1811A>C (n.*1811A>C) c.3904A>C (p.Ile1302Leu) c.1078A>C (p.Ile360Leu) c.3991A>C (p.Ile1331Leu) c.3220A>C (p.Ile1074Leu) n.5103A>C | |
| 12 | g.88089164C>A | CA386000466 | CEP290 | c.3897G>T (p.Lys1299Asn) c.1181G>T c.*2068G>T (n.*2068G>T) n.2257G>T c.3876G>T (p.Lys1292Asn) c.4758G>T (p.Lys1586Asn) n.4124G>T c.4665G>T (p.Lys1555Asn) n.2825G>T n.9623G>T c.*1810G>T (n.*1810G>T) c.3903G>T (p.Lys1301Asn) c.1077G>T (p.Lys359Asn) c.3990G>T (p.Lys1330Asn) c.3219G>T (p.Lys1073Asn) n.5102G>T | dbSNP |
| 12 | g.88089164C= | CA2052918414 | CEP290 | c.3897G= (p.Lys1299=) c.1181G= c.*2068G= (n.*2068G=) n.2257G= c.3876G= (p.Lys1292=) c.4758G= (p.Lys1586=) n.4124G= c.4665G= (p.Lys1555=) n.2825G= n.9623G= c.*1810G= (n.*1810G=) c.3903G= (p.Lys1301=) c.1077G= (p.Lys359=) c.3990G= (p.Lys1330=) c.3219G= (p.Lys1073=) n.5102G= | |
| 12 | g.88089164C>G | CA386000467 | CEP290 | c.3897G>C (p.Lys1299Asn) c.1181G>C c.*2068G>C (n.*2068G>C) n.2257G>C c.3876G>C (p.Lys1292Asn) c.4758G>C (p.Lys1586Asn) n.4124G>C c.4665G>C (p.Lys1555Asn) n.2825G>C n.9623G>C c.*1810G>C (n.*1810G>C) c.3903G>C (p.Lys1301Asn) c.1077G>C (p.Lys359Asn) c.3990G>C (p.Lys1330Asn) c.3219G>C (p.Lys1073Asn) n.5102G>C | |
| 12 | g.88089164C>T | CA481304110 | CEP290 | c.3897G>A (p.Lys1299=) c.1181G>A c.*2068G>A (n.*2068G>A) n.2257G>A c.3876G>A (p.Lys1292=) c.4758G>A (p.Lys1586=) n.4124G>A c.4665G>A (p.Lys1555=) n.2825G>A n.9623G>A c.*1810G>A (n.*1810G>A) c.3903G>A (p.Lys1301=) c.1077G>A (p.Lys359=) c.3990G>A (p.Lys1330=) c.3219G>A (p.Lys1073=) n.5102G>A | dbSNP |
| 12 | g.88089165T>A | CA386000469 | CEP290 | c.3896A>T (p.Lys1299Met) c.1180A>T c.*2067A>T (n.*2067A>T) n.2256A>T c.3875A>T (p.Lys1292Met) c.4757A>T (p.Lys1586Met) n.4123A>T c.4664A>T (p.Lys1555Met) n.2824A>T n.9622A>T c.*1809A>T (n.*1809A>T) c.3902A>T (p.Lys1301Met) c.1076A>T (p.Lys359Met) c.3989A>T (p.Lys1330Met) c.3218A>T (p.Lys1073Met) n.5101A>T | |
| 12 | g.88089165T>C | CA386000468 | CEP290 | c.3896A>G (p.Lys1299Arg) c.1180A>G c.*2067A>G (n.*2067A>G) n.2256A>G c.3875A>G (p.Lys1292Arg) c.4757A>G (p.Lys1586Arg) n.4123A>G c.4664A>G (p.Lys1555Arg) n.2824A>G n.9622A>G c.*1809A>G (n.*1809A>G) c.3902A>G (p.Lys1301Arg) c.1076A>G (p.Lys359Arg) c.3989A>G (p.Lys1330Arg) c.3218A>G (p.Lys1073Arg) n.5101A>G | |
| 12 | g.88089165T>G | CA6712062 | CEP290 | c.3896A>C (p.Lys1299Thr) c.1180A>C c.*2067A>C (n.*2067A>C) n.2256A>C c.3875A>C (p.Lys1292Thr) c.4757A>C (p.Lys1586Thr) n.4123A>C c.4664A>C (p.Lys1555Thr) n.2824A>C n.9622A>C c.*1809A>C (n.*1809A>C) c.3902A>C (p.Lys1301Thr) c.1076A>C (p.Lys359Thr) c.3989A>C (p.Lys1330Thr) c.3218A>C (p.Lys1073Thr) n.5101A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.88089165T= | CA2052918418 | CEP290 | c.3896A= (p.Lys1299=) c.1180A= c.*2067A= (n.*2067A=) n.2256A= c.3875A= (p.Lys1292=) c.4757A= (p.Lys1586=) n.4123A= c.4664A= (p.Lys1555=) n.2824A= n.9622A= c.*1809A= (n.*1809A=) c.3902A= (p.Lys1301=) c.1076A= (p.Lys359=) c.3989A= (p.Lys1330=) c.3218A= (p.Lys1073=) n.5101A= | |
| 12 | g.88089166T>A | CA386000470 | CEP290 | c.3895A>T (p.Lys1299Ter) c.1179A>T c.*2066A>T (n.*2066A>T) n.2255A>T c.3874A>T (p.Lys1292Ter) c.4756A>T (p.Lys1586Ter) n.4122A>T c.4663A>T (p.Lys1555Ter) n.2823A>T n.9621A>T c.*1808A>T (n.*1808A>T) c.3901A>T (p.Lys1301Ter) c.1075A>T (p.Lys359Ter) c.3988A>T (p.Lys1330Ter) c.3217A>T (p.Lys1073Ter) n.5100A>T | |
| 12 | g.88089166T>C | CA386000472 | CEP290 | c.3895A>G (p.Lys1299Glu) c.1179A>G c.*2066A>G (n.*2066A>G) n.2255A>G c.3874A>G (p.Lys1292Glu) c.4756A>G (p.Lys1586Glu) n.4122A>G c.4663A>G (p.Lys1555Glu) n.2823A>G n.9621A>G c.*1808A>G (n.*1808A>G) c.3901A>G (p.Lys1301Glu) c.1075A>G (p.Lys359Glu) c.3988A>G (p.Lys1330Glu) c.3217A>G (p.Lys1073Glu) n.5100A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.88089166T>G | CA386000471 | CEP290 | c.3895A>C (p.Lys1299Gln) c.1179A>C c.*2066A>C (n.*2066A>C) n.2255A>C c.3874A>C (p.Lys1292Gln) c.4756A>C (p.Lys1586Gln) n.4122A>C c.4663A>C (p.Lys1555Gln) n.2823A>C n.9621A>C c.*1808A>C (n.*1808A>C) c.3901A>C (p.Lys1301Gln) c.1075A>C (p.Lys359Gln) c.3988A>C (p.Lys1330Gln) c.3217A>C (p.Lys1073Gln) n.5100A>C | |
| 12 | g.88089166T= | CA2052918419 | CEP290 | c.3895A= (p.Lys1299=) c.1179A= c.*2066A= (n.*2066A=) n.2255A= c.3874A= (p.Lys1292=) c.4756A= (p.Lys1586=) n.4122A= c.4663A= (p.Lys1555=) n.2823A= n.9621A= c.*1808A= (n.*1808A=) c.3901A= (p.Lys1301=) c.1075A= (p.Lys359=) c.3988A= (p.Lys1330=) c.3217A= (p.Lys1073=) n.5100A= | |
| 12 | g.88089167A>C | CA481304117 | CEP290 | c.3894T>G (p.Leu1298=) c.1178T>G c.*2065T>G (n.*2065T>G) n.2254T>G c.3873T>G (p.Leu1291=) c.4755T>G (p.Leu1585=) n.4121T>G c.4662T>G (p.Leu1554=) n.2822T>G n.9620T>G c.*1807T>G (n.*1807T>G) c.3900T>G (p.Leu1300=) c.1074T>G (p.Leu358=) c.3987T>G (p.Leu1329=) c.3216T>G (p.Leu1072=) n.5099T>G | |
| 12 | g.88089167A>G | CA481304118 | CEP290 | c.3894T>C (p.Leu1298=) c.1178T>C c.*2065T>C (n.*2065T>C) n.2254T>C c.3873T>C (p.Leu1291=) c.4755T>C (p.Leu1585=) n.4121T>C c.4662T>C (p.Leu1554=) n.2822T>C n.9620T>C c.*1807T>C (n.*1807T>C) c.3900T>C (p.Leu1300=) c.1074T>C (p.Leu358=) c.3987T>C (p.Leu1329=) c.3216T>C (p.Leu1072=) n.5099T>C | |
| 12 | g.88089167A>T | CA481304116 | CEP290 | c.3894T>A (p.Leu1298=) c.1178T>A c.*2065T>A (n.*2065T>A) n.2254T>A c.3873T>A (p.Leu1291=) c.4755T>A (p.Leu1585=) n.4121T>A c.4662T>A (p.Leu1554=) n.2822T>A n.9620T>A c.*1807T>A (n.*1807T>A) c.3900T>A (p.Leu1300=) c.1074T>A (p.Leu358=) c.3987T>A (p.Leu1329=) c.3216T>A (p.Leu1072=) n.5099T>A | |
| 12 | g.88089168dup | CA6712063 | CEP290 | c.3894dup (p.Lys1299Ter) c.1178dup c.*2065dup (n.*2065dup) n.2254dup c.3873dup (p.Lys1292Ter) c.4755dup (p.Lys1586Ter) n.4121dup c.4662dup (p.Lys1555Ter) n.2822dup n.9620dup c.*1807dup (n.*1807dup) c.3900dup (p.Lys1301Ter) c.1074dup (p.Lys359Ter) c.3987dup (p.Lys1330Ter) c.3216dup (p.Lys1073Ter) n.5099dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.88089168A>C | CA386000473 | CEP290 | c.3893T>G (p.Leu1298Arg) c.1177T>G c.*2064T>G (n.*2064T>G) n.2253T>G c.3872T>G (p.Leu1291Arg) c.4754T>G (p.Leu1585Arg) n.4120T>G c.4661T>G (p.Leu1554Arg) n.2821T>G n.9619T>G c.*1806T>G (n.*1806T>G) c.3899T>G (p.Leu1300Arg) c.1073T>G (p.Leu358Arg) c.3986T>G (p.Leu1329Arg) c.3215T>G (p.Leu1072Arg) n.5098T>G | |
| 12 | g.88089168A>G | CA386000474 | CEP290 | c.3893T>C (p.Leu1298Pro) c.1177T>C c.*2064T>C (n.*2064T>C) n.2253T>C c.3872T>C (p.Leu1291Pro) c.4754T>C (p.Leu1585Pro) n.4120T>C c.4661T>C (p.Leu1554Pro) n.2821T>C n.9619T>C c.*1806T>C (n.*1806T>C) c.3899T>C (p.Leu1300Pro) c.1073T>C (p.Leu358Pro) c.3986T>C (p.Leu1329Pro) c.3215T>C (p.Leu1072Pro) n.5098T>C | |
| 12 | g.88089168A>T | CA386000475 | CEP290 | c.3893T>A (p.Leu1298His) c.1177T>A c.*2064T>A (n.*2064T>A) n.2253T>A c.3872T>A (p.Leu1291His) c.4754T>A (p.Leu1585His) n.4120T>A c.4661T>A (p.Leu1554His) n.2821T>A n.9619T>A c.*1806T>A (n.*1806T>A) c.3899T>A (p.Leu1300His) c.1073T>A (p.Leu358His) c.3986T>A (p.Leu1329His) c.3215T>A (p.Leu1072His) n.5098T>A | COSMIC |
| 12 | g.88089169G>A | CA386000476 | CEP290 | c.3892C>T (p.Leu1298Phe) c.1176C>T c.*2063C>T (n.*2063C>T) n.2252C>T c.3871C>T (p.Leu1291Phe) c.4753C>T (p.Leu1585Phe) n.4119C>T c.4660C>T (p.Leu1554Phe) n.2820C>T n.9618C>T c.*1805C>T (n.*1805C>T) c.3898C>T (p.Leu1300Phe) c.1072C>T (p.Leu358Phe) c.3985C>T (p.Leu1329Phe) c.3214C>T (p.Leu1072Phe) n.5097C>T | |
| 12 | g.88089169G>C | CA386000477 | CEP290 | c.3892C>G (p.Leu1298Val) c.1176C>G c.*2063C>G (n.*2063C>G) n.2252C>G c.3871C>G (p.Leu1291Val) c.4753C>G (p.Leu1585Val) n.4119C>G c.4660C>G (p.Leu1554Val) n.2820C>G n.9618C>G c.*1805C>G (n.*1805C>G) c.3898C>G (p.Leu1300Val) c.1072C>G (p.Leu358Val) c.3985C>G (p.Leu1329Val) c.3214C>G (p.Leu1072Val) n.5097C>G | COSMIC |
| 12 | g.88089169G>T | CA386000478 | CEP290 | c.3892C>A (p.Leu1298Ile) c.1176C>A c.*2063C>A (n.*2063C>A) n.2252C>A c.3871C>A (p.Leu1291Ile) c.4753C>A (p.Leu1585Ile) n.4119C>A c.4660C>A (p.Leu1554Ile) n.2820C>A n.9618C>A c.*1805C>A (n.*1805C>A) c.3898C>A (p.Leu1300Ile) c.1072C>A (p.Leu358Ile) c.3985C>A (p.Leu1329Ile) c.3214C>A (p.Leu1072Ile) n.5097C>A | |
| 12 | g.88089170T>A | CA386000479 | CEP290 | c.3891A>T (p.Lys1297Asn) c.1175A>T c.*2062A>T (n.*2062A>T) n.2251A>T c.3870A>T (p.Lys1290Asn) c.4752A>T (p.Lys1584Asn) n.4118A>T c.4659A>T (p.Lys1553Asn) n.2819A>T n.9617A>T c.*1804A>T (n.*1804A>T) c.3897A>T (p.Lys1299Asn) c.1071A>T (p.Lys357Asn) c.3984A>T (p.Lys1328Asn) c.3213A>T (p.Lys1071Asn) n.5096A>T | |
| 12 | g.88089170T>C | CA481304125 | CEP290 | c.3891A>G (p.Lys1297=) c.1175A>G c.*2062A>G (n.*2062A>G) n.2251A>G c.3870A>G (p.Lys1290=) c.4752A>G (p.Lys1584=) n.4118A>G c.4659A>G (p.Lys1553=) n.2819A>G n.9617A>G c.*1804A>G (n.*1804A>G) c.3897A>G (p.Lys1299=) c.1071A>G (p.Lys357=) c.3984A>G (p.Lys1328=) c.3213A>G (p.Lys1071=) n.5096A>G | |
| 12 | g.88089170T>G | CA386000480 | CEP290 | c.3891A>C (p.Lys1297Asn) c.1175A>C c.*2062A>C (n.*2062A>C) n.2251A>C c.3870A>C (p.Lys1290Asn) c.4752A>C (p.Lys1584Asn) n.4118A>C c.4659A>C (p.Lys1553Asn) n.2819A>C n.9617A>C c.*1804A>C (n.*1804A>C) c.3897A>C (p.Lys1299Asn) c.1071A>C (p.Lys357Asn) c.3984A>C (p.Lys1328Asn) c.3213A>C (p.Lys1071Asn) n.5096A>C |