| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.8355433C>A | CA338168012 | RERE | c.2991G>T (p.Gln997His) c.4653G>T (p.Gln1551His) c.3849G>T (p.Gln1283His) c.1707G>T (p.Gln569His) c.4527G>T (p.Gln1509His) | |
| 1 | g.8355433C>G | CA338168013 | RERE | c.2991G>C (p.Gln997His) c.4653G>C (p.Gln1551His) c.3849G>C (p.Gln1283His) c.1707G>C (p.Gln569His) c.4527G>C (p.Gln1509His) | |
| 1 | g.8355433C>T | CA415841648 | RERE | c.2991G>A (p.Gln997=) c.4653G>A (p.Gln1551=) c.3849G>A (p.Gln1283=) c.1707G>A (p.Gln569=) c.4527G>A (p.Gln1509=) | |
| 1 | g.8355434T>A | CA338168014 | RERE | c.2990A>T (p.Gln997Leu) c.4652A>T (p.Gln1551Leu) c.3848A>T (p.Gln1283Leu) c.1706A>T (p.Gln569Leu) c.4526A>T (p.Gln1509Leu) | |
| 1 | g.8355434T>C | CA338168015 | RERE | c.2990A>G (p.Gln997Arg) c.4652A>G (p.Gln1551Arg) c.3848A>G (p.Gln1283Arg) c.1706A>G (p.Gln569Arg) c.4526A>G (p.Gln1509Arg) | |
| 1 | g.8355434T>G | CA338168016 | RERE | c.2990A>C (p.Gln997Pro) c.4652A>C (p.Gln1551Pro) c.3848A>C (p.Gln1283Pro) c.1706A>C (p.Gln569Pro) c.4526A>C (p.Gln1509Pro) | |
| 1 | g.8355435G>A | CA338168017 | RERE | c.2989C>T (p.Gln997Ter) c.4651C>T (p.Gln1551Ter) c.3847C>T (p.Gln1283Ter) c.1705C>T (p.Gln569Ter) c.4525C>T (p.Gln1509Ter) | |
| 1 | g.8355435G>C | CA338168018 | RERE | c.2989C>G (p.Gln997Glu) c.4651C>G (p.Gln1551Glu) c.3847C>G (p.Gln1283Glu) c.1705C>G (p.Gln569Glu) c.4525C>G (p.Gln1509Glu) | |
| 1 | g.8355435G>T | CA338168019 | RERE | c.2989C>A (p.Gln997Lys) c.4651C>A (p.Gln1551Lys) c.3847C>A (p.Gln1283Lys) c.1705C>A (p.Gln569Lys) c.4525C>A (p.Gln1509Lys) | gnomAD v4 |
| 1 | g.8355436A>C | CA338168020 | RERE | c.2988T>G (p.Ser996Arg) c.4650T>G (p.Ser1550Arg) c.3846T>G (p.Ser1282Arg) c.1704T>G (p.Ser568Arg) c.4524T>G (p.Ser1508Arg) | |
| 1 | g.8355436A>G | CA415841654 | RERE | c.2988T>C (p.Ser996=) c.4650T>C (p.Ser1550=) c.3846T>C (p.Ser1282=) c.1704T>C (p.Ser568=) c.4524T>C (p.Ser1508=) | |
| 1 | g.8355436A>T | CA338168021 | RERE | c.2988T>A (p.Ser996Arg) c.4650T>A (p.Ser1550Arg) c.3846T>A (p.Ser1282Arg) c.1704T>A (p.Ser568Arg) c.4524T>A (p.Ser1508Arg) | |
| 1 | g.8355437C>A | CA338168022 | RERE | c.2987G>T (p.Ser996Ile) c.4649G>T (p.Ser1550Ile) c.3845G>T (p.Ser1282Ile) c.1703G>T (p.Ser568Ile) c.4523G>T (p.Ser1508Ile) | |
| 1 | g.8355437C= | CA1152318837 | RERE | c.2987G= (p.Ser996=) c.4649G= (p.Ser1550=) c.3845G= (p.Ser1282=) c.1703G= (p.Ser568=) c.4523G= (p.Ser1508=) | |
| 1 | g.8355437C>G | CA338168023 | RERE | c.2987G>C (p.Ser996Thr) c.4649G>C (p.Ser1550Thr) c.3845G>C (p.Ser1282Thr) c.1703G>C (p.Ser568Thr) c.4523G>C (p.Ser1508Thr) | |
| 1 | g.8355437C>T | CA338168024 | RERE | c.2987G>A (p.Ser996Asn) c.4649G>A (p.Ser1550Asn) c.3845G>A (p.Ser1282Asn) c.1703G>A (p.Ser568Asn) c.4523G>A (p.Ser1508Asn) | dbSNP gnomAD v4 |
| 1 | g.8355438T>A | CA338168026 | RERE | c.2986A>T (p.Ser996Cys) c.4648A>T (p.Ser1550Cys) c.3844A>T (p.Ser1282Cys) c.1702A>T (p.Ser568Cys) c.4522A>T (p.Ser1508Cys) | |
| 1 | g.8355438T>C | CA338168027 | RERE | c.2986A>G (p.Ser996Gly) c.4648A>G (p.Ser1550Gly) c.3844A>G (p.Ser1282Gly) c.1702A>G (p.Ser568Gly) c.4522A>G (p.Ser1508Gly) | |
| 1 | g.8355438T>G | CA338168025 | RERE | c.2986A>C (p.Ser996Arg) c.4648A>C (p.Ser1550Arg) c.3844A>C (p.Ser1282Arg) c.1702A>C (p.Ser568Arg) c.4522A>C (p.Ser1508Arg) | dbSNP |
| 1 | g.8355438T= | CA1152318838 | RERE | c.2986A= (p.Ser996=) c.4648A= (p.Ser1550=) c.3844A= (p.Ser1282=) c.1702A= (p.Ser568=) c.4522A= (p.Ser1508=) | |
| 1 | g.8355439T>A | CA415841660 | RERE | c.2985A>T (p.Pro995=) c.4647A>T (p.Pro1549=) c.3843A>T (p.Pro1281=) c.1701A>T (p.Pro567=) c.4521A>T (p.Pro1507=) | |
| 1 | g.8355439T>C | CA415841661 | RERE | c.2985A>G (p.Pro995=) c.4647A>G (p.Pro1549=) c.3843A>G (p.Pro1281=) c.1701A>G (p.Pro567=) c.4521A>G (p.Pro1507=) | |
| 1 | g.8355439T>G | CA415841663 | RERE | c.2985A>C (p.Pro995=) c.4647A>C (p.Pro1549=) c.3843A>C (p.Pro1281=) c.1701A>C (p.Pro567=) c.4521A>C (p.Pro1507=) | |
| 1 | g.8355440G>A | CA570727 | RERE | c.2984C>T (p.Pro995Leu) c.4646C>T (p.Pro1549Leu) c.3842C>T (p.Pro1281Leu) c.1700C>T (p.Pro567Leu) c.4520C>T (p.Pro1507Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355440G>C | CA338168028 | RERE | c.2984C>G (p.Pro995Arg) c.4646C>G (p.Pro1549Arg) c.3842C>G (p.Pro1281Arg) c.1700C>G (p.Pro567Arg) c.4520C>G (p.Pro1507Arg) | dbSNP gnomAD v4 |
| 1 | g.8355440G= | CA1152318839 | RERE | c.2984C= (p.Pro995=) c.4646C= (p.Pro1549=) c.3842C= (p.Pro1281=) c.1700C= (p.Pro567=) c.4520C= (p.Pro1507=) | |
| 1 | g.8355440G>T | CA338168029 | RERE | c.2984C>A (p.Pro995Gln) c.4646C>A (p.Pro1549Gln) c.3842C>A (p.Pro1281Gln) c.1700C>A (p.Pro567Gln) c.4520C>A (p.Pro1507Gln) | gnomAD v4 |
| 1 | g.8355441G>A | CA338168030 | RERE | c.2983C>T (p.Pro995Ser) c.4645C>T (p.Pro1549Ser) c.3841C>T (p.Pro1281Ser) c.1699C>T (p.Pro567Ser) c.4519C>T (p.Pro1507Ser) | |
| 1 | g.8355441G>C | CA338168031 | RERE | c.2983C>G (p.Pro995Ala) c.4645C>G (p.Pro1549Ala) c.3841C>G (p.Pro1281Ala) c.1699C>G (p.Pro567Ala) c.4519C>G (p.Pro1507Ala) | |
| 1 | g.8355441G>T | CA338168032 | RERE | c.2983C>A (p.Pro995Thr) c.4645C>A (p.Pro1549Thr) c.3841C>A (p.Pro1281Thr) c.1699C>A (p.Pro567Thr) c.4519C>A (p.Pro1507Thr) | |
| 1 | g.8355442T>A | CA415841671 | RERE | c.2982A>T (p.Leu994=) c.4644A>T (p.Leu1548=) c.3840A>T (p.Leu1280=) c.1698A>T (p.Leu566=) c.4518A>T (p.Leu1506=) | |
| 1 | g.8355442T>C | CA17686986 | RERE | c.2982A>G (p.Leu994=) c.4644A>G (p.Leu1548=) c.3840A>G (p.Leu1280=) c.1698A>G (p.Leu566=) c.4518A>G (p.Leu1506=) | dbSNP |
| 1 | g.8355442T>G | CA415841673 | RERE | c.2982A>C (p.Leu994=) c.4644A>C (p.Leu1548=) c.3840A>C (p.Leu1280=) c.1698A>C (p.Leu566=) c.4518A>C (p.Leu1506=) | |
| 1 | g.8355442T= | CA1146387316 | RERE | c.2982A= (p.Leu994=) c.4644A= (p.Leu1548=) c.3840A= (p.Leu1280=) c.1698A= (p.Leu566=) c.4518A= (p.Leu1506=) | |
| 1 | g.8355443A>C | CA338168033 | RERE | c.2981T>G (p.Leu994Arg) c.4643T>G (p.Leu1548Arg) c.3839T>G (p.Leu1280Arg) c.1697T>G (p.Leu566Arg) c.4517T>G (p.Leu1506Arg) | |
| 1 | g.8355443A>G | CA338168034 | RERE | c.2981T>C (p.Leu994Pro) c.4643T>C (p.Leu1548Pro) c.3839T>C (p.Leu1280Pro) c.1697T>C (p.Leu566Pro) c.4517T>C (p.Leu1506Pro) | |
| 1 | g.8355443A>T | CA338168035 | RERE | c.2981T>A (p.Leu994Gln) c.4643T>A (p.Leu1548Gln) c.3839T>A (p.Leu1280Gln) c.1697T>A (p.Leu566Gln) c.4517T>A (p.Leu1506Gln) | |
| 1 | g.8355444G>A | CA415841681 | RERE | c.2980C>T (p.Leu994=) c.4642C>T (p.Leu1548=) c.3838C>T (p.Leu1280=) c.1696C>T (p.Leu566=) c.4516C>T (p.Leu1506=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355444G>C | CA338168036 | RERE | c.2980C>G (p.Leu994Val) c.4642C>G (p.Leu1548Val) c.3838C>G (p.Leu1280Val) c.1696C>G (p.Leu566Val) c.4516C>G (p.Leu1506Val) | |
| 1 | g.8355444G= | CA1152318840 | RERE | c.2980C= (p.Leu994=) c.4642C= (p.Leu1548=) c.3838C= (p.Leu1280=) c.1696C= (p.Leu566=) c.4516C= (p.Leu1506=) | |
| 1 | g.8355444G>T | CA338168037 | RERE | c.2980C>A (p.Leu994Ile) c.4642C>A (p.Leu1548Ile) c.3838C>A (p.Leu1280Ile) c.1696C>A (p.Leu566Ile) c.4516C>A (p.Leu1506Ile) | |
| 1 | g.8355445G>A | CA415841684 | RERE | c.2979C>T (p.His993=) c.4641C>T (p.His1547=) c.3837C>T (p.His1279=) c.1695C>T (p.His565=) c.4515C>T (p.His1505=) | gnomAD v4 |
| 1 | g.8355445G>C | CA338168038 | RERE | c.2979C>G (p.His993Gln) c.4641C>G (p.His1547Gln) c.3837C>G (p.His1279Gln) c.1695C>G (p.His565Gln) c.4515C>G (p.His1505Gln) | |
| 1 | g.8355445G>T | CA338168039 | RERE | c.2979C>A (p.His993Gln) c.4641C>A (p.His1547Gln) c.3837C>A (p.His1279Gln) c.1695C>A (p.His565Gln) c.4515C>A (p.His1505Gln) | |
| 1 | g.8355446T>A | CA338168040 | RERE | c.2978A>T (p.His993Leu) c.4640A>T (p.His1547Leu) c.3836A>T (p.His1279Leu) c.1694A>T (p.His565Leu) c.4514A>T (p.His1505Leu) | |
| 1 | g.8355446T>C | CA338168041 | RERE | c.2978A>G (p.His993Arg) c.4640A>G (p.His1547Arg) c.3836A>G (p.His1279Arg) c.1694A>G (p.His565Arg) c.4514A>G (p.His1505Arg) | |
| 1 | g.8355446T>G | CA338168042 | RERE | c.2978A>C (p.His993Pro) c.4640A>C (p.His1547Pro) c.3836A>C (p.His1279Pro) c.1694A>C (p.His565Pro) c.4514A>C (p.His1505Pro) | |
| 1 | g.8355447G>A | CA570728 | RERE | c.2977C>T (p.His993Tyr) c.4639C>T (p.His1547Tyr) c.3835C>T (p.His1279Tyr) c.1693C>T (p.His565Tyr) c.4513C>T (p.His1505Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355447G>C | CA338168044 | RERE | c.2977C>G (p.His993Asp) c.4639C>G (p.His1547Asp) c.3835C>G (p.His1279Asp) c.1693C>G (p.His565Asp) c.4513C>G (p.His1505Asp) | |
| 1 | g.8355447G= | CA1148899275 | RERE | c.2977C= (p.His993=) c.4639C= (p.His1547=) c.3835C= (p.His1279=) c.1693C= (p.His565=) c.4513C= (p.His1505=) | |
| 1 | g.8355447G>T | CA338168043 | RERE | c.2977C>A (p.His993Asn) c.4639C>A (p.His1547Asn) c.3835C>A (p.His1279Asn) c.1693C>A (p.His565Asn) c.4513C>A (p.His1505Asn) | |
| 1 | g.8355448G>A | CA570729 | RERE | c.2976C>T (p.Gly992=) c.4638C>T (p.Gly1546=) c.3834C>T (p.Gly1278=) c.1692C>T (p.Gly564=) c.4512C>T (p.Gly1504=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355448G>C | CA415841690 | RERE | c.2976C>G (p.Gly992=) c.4638C>G (p.Gly1546=) c.3834C>G (p.Gly1278=) c.1692C>G (p.Gly564=) c.4512C>G (p.Gly1504=) | |
| 1 | g.8355448G= | CA1142244715 | RERE | c.2976C= (p.Gly992=) c.4638C= (p.Gly1546=) c.3834C= (p.Gly1278=) c.1692C= (p.Gly564=) c.4512C= (p.Gly1504=) | |
| 1 | g.8355448G>T | CA415841692 | RERE | c.2976C>A (p.Gly992=) c.4638C>A (p.Gly1546=) c.3834C>A (p.Gly1278=) c.1692C>A (p.Gly564=) c.4512C>A (p.Gly1504=) | |
| 1 | g.8355449C>A | CA338168045 | RERE | c.2975G>T (p.Gly992Val) c.4637G>T (p.Gly1546Val) c.3833G>T (p.Gly1278Val) c.1691G>T (p.Gly564Val) c.4511G>T (p.Gly1504Val) | |
| 1 | g.8355449C>G | CA338168046 | RERE | c.2975G>C (p.Gly992Ala) c.4637G>C (p.Gly1546Ala) c.3833G>C (p.Gly1278Ala) c.1691G>C (p.Gly564Ala) c.4511G>C (p.Gly1504Ala) | |
| 1 | g.8355449C>T | CA338168047 | RERE | c.2975G>A (p.Gly992Asp) c.4637G>A (p.Gly1546Asp) c.3833G>A (p.Gly1278Asp) c.1691G>A (p.Gly564Asp) c.4511G>A (p.Gly1504Asp) | gnomAD v4 |
| 1 | g.8355450C>A | CA338168048 | RERE | c.2974G>T (p.Gly992Cys) c.4636G>T (p.Gly1546Cys) c.3832G>T (p.Gly1278Cys) c.1690G>T (p.Gly564Cys) c.4510G>T (p.Gly1504Cys) | |
| 1 | g.8355450C= | CA1152318841 | RERE | c.2974G= (p.Gly992=) c.4636G= (p.Gly1546=) c.3832G= (p.Gly1278=) c.1690G= (p.Gly564=) c.4510G= (p.Gly1504=) | |
| 1 | g.8355450C>G | CA338168049 | RERE | c.2974G>C (p.Gly992Arg) c.4636G>C (p.Gly1546Arg) c.3832G>C (p.Gly1278Arg) c.1690G>C (p.Gly564Arg) c.4510G>C (p.Gly1504Arg) | |
| 1 | g.8355450C>T | CA338168050 | RERE | c.2974G>A (p.Gly992Ser) c.4636G>A (p.Gly1546Ser) c.3832G>A (p.Gly1278Ser) c.1690G>A (p.Gly564Ser) c.4510G>A (p.Gly1504Ser) | dbSNP |
| 1 | g.8355451A= | CA1152318842 | RERE | c.2973T= (p.Gly991=) c.4635T= (p.Gly1545=) c.3831T= (p.Gly1277=) c.1689T= (p.Gly563=) c.4509T= (p.Gly1503=) | |
| 1 | g.8355451A>C | CA415841705 | RERE | c.2973T>G (p.Gly991=) c.4635T>G (p.Gly1545=) c.3831T>G (p.Gly1277=) c.1689T>G (p.Gly563=) c.4509T>G (p.Gly1503=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.8355451A>G | CA415841708 | RERE | c.2973T>C (p.Gly991=) c.4635T>C (p.Gly1545=) c.3831T>C (p.Gly1277=) c.1689T>C (p.Gly563=) c.4509T>C (p.Gly1503=) | |
| 1 | g.8355451A>T | CA415841710 | RERE | c.2973T>A (p.Gly991=) c.4635T>A (p.Gly1545=) c.3831T>A (p.Gly1277=) c.1689T>A (p.Gly563=) c.4509T>A (p.Gly1503=) | |
| 1 | g.8355452C>A | CA338168051 | RERE | c.2972G>T (p.Gly991Val) c.4634G>T (p.Gly1545Val) c.3830G>T (p.Gly1277Val) c.1688G>T (p.Gly563Val) c.4508G>T (p.Gly1503Val) | gnomAD v4 |
| 1 | g.8355452C>G | CA338168052 | RERE | c.2972G>C (p.Gly991Ala) c.4634G>C (p.Gly1545Ala) c.3830G>C (p.Gly1277Ala) c.1688G>C (p.Gly563Ala) c.4508G>C (p.Gly1503Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.8355452C>T | CA338168053 | RERE | c.2972G>A (p.Gly991Asp) c.4634G>A (p.Gly1545Asp) c.3830G>A (p.Gly1277Asp) c.1688G>A (p.Gly563Asp) c.4508G>A (p.Gly1503Asp) | |
| 1 | g.8355453C>A | CA338168056 | RERE | c.2971G>T (p.Gly991Cys) c.4633G>T (p.Gly1545Cys) c.3829G>T (p.Gly1277Cys) c.1687G>T (p.Gly563Cys) c.4507G>T (p.Gly1503Cys) | |
| 1 | g.8355453C= | CA1152318843 | RERE | c.2971G= (p.Gly991=) c.4633G= (p.Gly1545=) c.3829G= (p.Gly1277=) c.1687G= (p.Gly563=) c.4507G= (p.Gly1503=) | |
| 1 | g.8355453C>G | CA338168055 | RERE | c.2971G>C (p.Gly991Arg) c.4633G>C (p.Gly1545Arg) c.3829G>C (p.Gly1277Arg) c.1687G>C (p.Gly563Arg) c.4507G>C (p.Gly1503Arg) | |
| 1 | g.8355453C>T | CA338168054 | RERE | c.2971G>A (p.Gly991Ser) c.4633G>A (p.Gly1545Ser) c.3829G>A (p.Gly1277Ser) c.1687G>A (p.Gly563Ser) c.4507G>A (p.Gly1503Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355454A>C | CA338168057 | RERE | c.2970T>G (p.His990Gln) c.4632T>G (p.His1544Gln) c.3828T>G (p.His1276Gln) c.1686T>G (p.His562Gln) c.4506T>G (p.His1502Gln) | |
| 1 | g.8355454A>G | CA415841722 | RERE | c.2970T>C (p.His990=) c.4632T>C (p.His1544=) c.3828T>C (p.His1276=) c.1686T>C (p.His562=) c.4506T>C (p.His1502=) | |
| 1 | g.8355454A>T | CA338168058 | RERE | c.2970T>A (p.His990Gln) c.4632T>A (p.His1544Gln) c.3828T>A (p.His1276Gln) c.1686T>A (p.His562Gln) c.4506T>A (p.His1502Gln) | |
| 1 | g.8355455T>A | CA338168059 | RERE | c.2969A>T (p.His990Leu) c.4631A>T (p.His1544Leu) c.3827A>T (p.His1276Leu) c.1685A>T (p.His562Leu) c.4505A>T (p.His1502Leu) | |
| 1 | g.8355455T>C | CA570730 | RERE | c.2969A>G (p.His990Arg) c.4631A>G (p.His1544Arg) c.3827A>G (p.His1276Arg) c.1685A>G (p.His562Arg) c.4505A>G (p.His1502Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355455T>G | CA338168060 | RERE | c.2969A>C (p.His990Pro) c.4631A>C (p.His1544Pro) c.3827A>C (p.His1276Pro) c.1685A>C (p.His562Pro) c.4505A>C (p.His1502Pro) | |
| 1 | g.8355455T= | CA1152318844 | RERE | c.2969A= (p.His990=) c.4631A= (p.His1544=) c.3827A= (p.His1276=) c.1685A= (p.His562=) c.4505A= (p.His1502=) | |
| 1 | g.8355456G>A | CA338168063 | RERE | c.2968C>T (p.His990Tyr) c.4630C>T (p.His1544Tyr) c.3826C>T (p.His1276Tyr) c.1684C>T (p.His562Tyr) c.4504C>T (p.His1502Tyr) | |
| 1 | g.8355456G>C | CA338168062 | RERE | c.2968C>G (p.His990Asp) c.4630C>G (p.His1544Asp) c.3826C>G (p.His1276Asp) c.1684C>G (p.His562Asp) c.4504C>G (p.His1502Asp) | |
| 1 | g.8355456G>T | CA338168061 | RERE | c.2968C>A (p.His990Asn) c.4630C>A (p.His1544Asn) c.3826C>A (p.His1276Asn) c.1684C>A (p.His562Asn) c.4504C>A (p.His1502Asn) | gnomAD v4 |
| 1 | g.8355457C>A | CA338168064 | RERE | c.2967G>T (p.Met989Ile) c.4629G>T (p.Met1543Ile) c.3825G>T (p.Met1275Ile) c.1683G>T (p.Met561Ile) c.4503G>T (p.Met1501Ile) | COSMIC |
| 1 | g.8355457C= | CA1148453538 | RERE | c.2967G= (p.Met989=) c.4629G= (p.Met1543=) c.3825G= (p.Met1275=) c.1683G= (p.Met561=) c.4503G= (p.Met1501=) | |
| 1 | g.8355457C>G | CA338168065 | RERE | c.2967G>C (p.Met989Ile) c.4629G>C (p.Met1543Ile) c.3825G>C (p.Met1275Ile) c.1683G>C (p.Met561Ile) c.4503G>C (p.Met1501Ile) | |
| 1 | g.8355457C>T | CA570731 | RERE | c.2967G>A (p.Met989Ile) c.4629G>A (p.Met1543Ile) c.3825G>A (p.Met1275Ile) c.1683G>A (p.Met561Ile) c.4503G>A (p.Met1501Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355458A= | CA1152318845 | RERE | c.2966T= (p.Met989=) c.4628T= (p.Met1543=) c.3824T= (p.Met1275=) c.1682T= (p.Met561=) c.4502T= (p.Met1501=) | |
| 1 | g.8355458A>C | CA338168066 | RERE | c.2966T>G (p.Met989Arg) c.4628T>G (p.Met1543Arg) c.3824T>G (p.Met1275Arg) c.1682T>G (p.Met561Arg) c.4502T>G (p.Met1501Arg) | |
| 1 | g.8355458A>G | CA338168067 | RERE | c.2966T>C (p.Met989Thr) c.4628T>C (p.Met1543Thr) c.3824T>C (p.Met1275Thr) c.1682T>C (p.Met561Thr) c.4502T>C (p.Met1501Thr) | |
| 1 | g.8355458A>T | CA338168068 | RERE | c.2966T>A (p.Met989Lys) c.4628T>A (p.Met1543Lys) c.3824T>A (p.Met1275Lys) c.1682T>A (p.Met561Lys) c.4502T>A (p.Met1501Lys) | dbSNP |
| 1 | g.8355459T>A | CA338168069 | RERE | c.2965A>T (p.Met989Leu) c.4627A>T (p.Met1543Leu) c.3823A>T (p.Met1275Leu) c.1681A>T (p.Met561Leu) c.4501A>T (p.Met1501Leu) | |
| 1 | g.8355459T>C | CA570732 | RERE | c.2965A>G (p.Met989Val) c.4627A>G (p.Met1543Val) c.3823A>G (p.Met1275Val) c.1681A>G (p.Met561Val) c.4501A>G (p.Met1501Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355459T>G | CA338168070 | RERE | c.2965A>C (p.Met989Leu) c.4627A>C (p.Met1543Leu) c.3823A>C (p.Met1275Leu) c.1681A>C (p.Met561Leu) c.4501A>C (p.Met1501Leu) | |
| 1 | g.8355459T= | CA1143999162 | RERE | c.2965A= (p.Met989=) c.4627A= (p.Met1543=) c.3823A= (p.Met1275=) c.1681A= (p.Met561=) c.4501A= (p.Met1501=) | |
| 1 | g.8355460G>A | CA415841742 | RERE | c.2964C>T (p.His988=) c.4626C>T (p.His1542=) c.3822C>T (p.His1274=) c.1680C>T (p.His560=) c.4500C>T (p.His1500=) | dbSNP gnomAD v4 |
| 1 | g.8355460G>C | CA338168071 | RERE | c.2964C>G (p.His988Gln) c.4626C>G (p.His1542Gln) c.3822C>G (p.His1274Gln) c.1680C>G (p.His560Gln) c.4500C>G (p.His1500Gln) | dbSNP |
| 1 | g.8355460G= | CA1152318846 | RERE | c.2964C= (p.His988=) c.4626C= (p.His1542=) c.3822C= (p.His1274=) c.1680C= (p.His560=) c.4500C= (p.His1500=) | |
| 1 | g.8355460G>T | CA338168072 | RERE | c.2964C>A (p.His988Gln) c.4626C>A (p.His1542Gln) c.3822C>A (p.His1274Gln) c.1680C>A (p.His560Gln) c.4500C>A (p.His1500Gln) | ClinVar gnomAD v4 |
| 1 | g.8355461T>A | CA17687006 | RERE | c.2963A>T (p.His988Leu) c.4625A>T (p.His1542Leu) c.3821A>T (p.His1274Leu) c.1679A>T (p.His560Leu) c.4499A>T (p.His1500Leu) | dbSNP |
| 1 | g.8355461T>C | CA17687013 | RERE | c.2963A>G (p.His988Arg) c.4625A>G (p.His1542Arg) c.3821A>G (p.His1274Arg) c.1679A>G (p.His560Arg) c.4499A>G (p.His1500Arg) | dbSNP |
| 1 | g.8355461T>G | CA570733 | RERE | c.2963A>C (p.His988Pro) c.4625A>C (p.His1542Pro) c.3821A>C (p.His1274Pro) c.1679A>C (p.His560Pro) c.4499A>C (p.His1500Pro) | dbSNP ExAC gnomAD v2 |
| 1 | g.8355461T= | CA1141341970 | RERE | c.2963A= (p.His988=) c.4625A= (p.His1542=) c.3821A= (p.His1274=) c.1679A= (p.His560=) c.4499A= (p.His1500=) | |
| 1 | g.8355462G>A | CA338168073 | RERE | c.2962C>T (p.His988Tyr) c.4624C>T (p.His1542Tyr) c.3820C>T (p.His1274Tyr) c.1678C>T (p.His560Tyr) c.4498C>T (p.His1500Tyr) | ClinVar dbSNP |
| 1 | g.8355462G>C | CA338168074 | RERE | c.2962C>G (p.His988Asp) c.4624C>G (p.His1542Asp) c.3820C>G (p.His1274Asp) c.1678C>G (p.His560Asp) c.4498C>G (p.His1500Asp) | gnomAD v4 |
| 1 | g.8355462G= | CA1152318847 | RERE | c.2962C= (p.His988=) c.4624C= (p.His1542=) c.3820C= (p.His1274=) c.1678C= (p.His560=) c.4498C= (p.His1500=) | |
| 1 | g.8355462G>T | CA338168075 | RERE | c.2962C>A (p.His988Asn) c.4624C>A (p.His1542Asn) c.3820C>A (p.His1274Asn) c.1678C>A (p.His560Asn) c.4498C>A (p.His1500Asn) | ClinVar |
| 1 | g.8355463G>A | CA570735 | RERE | c.2961C>T (p.Pro987=) c.4623C>T (p.Pro1541=) c.3819C>T (p.Pro1273=) c.1677C>T (p.Pro559=) c.4497C>T (p.Pro1499=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355463G>C | CA570734 | RERE | c.2961C>G (p.Pro987=) c.4623C>G (p.Pro1541=) c.3819C>G (p.Pro1273=) c.1677C>G (p.Pro559=) c.4497C>G (p.Pro1499=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355463G= | CA1148244020 | RERE | c.2961C= (p.Pro987=) c.4623C= (p.Pro1541=) c.3819C= (p.Pro1273=) c.1677C= (p.Pro559=) c.4497C= (p.Pro1499=) | |
| 1 | g.8355463G>T | CA415841756 | RERE | c.2961C>A (p.Pro987=) c.4623C>A (p.Pro1541=) c.3819C>A (p.Pro1273=) c.1677C>A (p.Pro559=) c.4497C>A (p.Pro1499=) | |
| 1 | g.8355464G>A | CA338168078 | RERE | c.2960C>T (p.Pro987Leu) c.4622C>T (p.Pro1541Leu) c.3818C>T (p.Pro1273Leu) c.1676C>T (p.Pro559Leu) c.4496C>T (p.Pro1499Leu) | |
| 1 | g.8355464G>C | CA338168077 | RERE | c.2960C>G (p.Pro987Arg) c.4622C>G (p.Pro1541Arg) c.3818C>G (p.Pro1273Arg) c.1676C>G (p.Pro559Arg) c.4496C>G (p.Pro1499Arg) | gnomAD v4 |
| 1 | g.8355464G>T | CA338168076 | RERE | c.2960C>A (p.Pro987His) c.4622C>A (p.Pro1541His) c.3818C>A (p.Pro1273His) c.1676C>A (p.Pro559His) c.4496C>A (p.Pro1499His) | |
| 1 | g.8355465G>A | CA338168079 | RERE | c.2959C>T (p.Pro987Ser) c.4621C>T (p.Pro1541Ser) c.3817C>T (p.Pro1273Ser) c.1675C>T (p.Pro559Ser) c.4495C>T (p.Pro1499Ser) | gnomAD v4 |
| 1 | g.8355465G>C | CA338168080 | RERE | c.2959C>G (p.Pro987Ala) c.4621C>G (p.Pro1541Ala) c.3817C>G (p.Pro1273Ala) c.1675C>G (p.Pro559Ala) c.4495C>G (p.Pro1499Ala) | |
| 1 | g.8355465G>T | CA338168081 | RERE | c.2959C>A (p.Pro987Thr) c.4621C>A (p.Pro1541Thr) c.3817C>A (p.Pro1273Thr) c.1675C>A (p.Pro559Thr) c.4495C>A (p.Pro1499Thr) | gnomAD v4 |
| 1 | g.8355466G>A | CA415841766 | RERE | c.2958C>T (p.His986=) c.4620C>T (p.His1540=) c.3816C>T (p.His1272=) c.1674C>T (p.His558=) c.4494C>T (p.His1498=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.8355466G>C | CA338168082 | RERE | c.2958C>G (p.His986Gln) c.4620C>G (p.His1540Gln) c.3816C>G (p.His1272Gln) c.1674C>G (p.His558Gln) c.4494C>G (p.His1498Gln) | ClinVar dbSNP |
| 1 | g.8355466G= | CA1152318848 | RERE | c.2958C= (p.His986=) c.4620C= (p.His1540=) c.3816C= (p.His1272=) c.1674C= (p.His558=) c.4494C= (p.His1498=) | |
| 1 | g.8355466G>T | CA338168083 | RERE | c.2958C>A (p.His986Gln) c.4620C>A (p.His1540Gln) c.3816C>A (p.His1272Gln) c.1674C>A (p.His558Gln) c.4494C>A (p.His1498Gln) | gnomAD v4 |
| 1 | g.8355467T>A | CA338168086 | RERE | c.2957A>T (p.His986Leu) c.4619A>T (p.His1540Leu) c.3815A>T (p.His1272Leu) c.1673A>T (p.His558Leu) c.4493A>T (p.His1498Leu) | |
| 1 | g.8355467T>C | CA338168085 | RERE | c.2957A>G (p.His986Arg) c.4619A>G (p.His1540Arg) c.3815A>G (p.His1272Arg) c.1673A>G (p.His558Arg) c.4493A>G (p.His1498Arg) | |
| 1 | g.8355467T>G | CA338168084 | RERE | c.2957A>C (p.His986Pro) c.4619A>C (p.His1540Pro) c.3815A>C (p.His1272Pro) c.1673A>C (p.His558Pro) c.4493A>C (p.His1498Pro) | dbSNP |
| 1 | g.8355467T= | CA1152318849 | RERE | c.2957A= (p.His986=) c.4619A= (p.His1540=) c.3815A= (p.His1272=) c.1673A= (p.His558=) c.4493A= (p.His1498=) | |
| 1 | g.8355468G>A | CA338168087 | RERE | c.2956C>T (p.His986Tyr) c.4618C>T (p.His1540Tyr) c.3814C>T (p.His1272Tyr) c.1672C>T (p.His558Tyr) c.4492C>T (p.His1498Tyr) | |
| 1 | g.8355468G>C | CA338168088 | RERE | c.2956C>G (p.His986Asp) c.4618C>G (p.His1540Asp) c.3814C>G (p.His1272Asp) c.1672C>G (p.His558Asp) c.4492C>G (p.His1498Asp) | |
| 1 | g.8355468G>T | CA338168089 | RERE | c.2956C>A (p.His986Asn) c.4618C>A (p.His1540Asn) c.3814C>A (p.His1272Asn) c.1672C>A (p.His558Asn) c.4492C>A (p.His1498Asn) | |
| 1 | g.8355469T>A | CA415841782 | RERE | c.2955A>T (p.Gly985=) c.4617A>T (p.Gly1539=) c.3813A>T (p.Gly1271=) c.1671A>T (p.Gly557=) c.4491A>T (p.Gly1497=) | |
| 1 | g.8355469T>C | CA415841785 | RERE | c.2955A>G (p.Gly985=) c.4617A>G (p.Gly1539=) c.3813A>G (p.Gly1271=) c.1671A>G (p.Gly557=) c.4491A>G (p.Gly1497=) | gnomAD v4 |
| 1 | g.8355469T>G | CA415841787 | RERE | c.2955A>C (p.Gly985=) c.4617A>C (p.Gly1539=) c.3813A>C (p.Gly1271=) c.1671A>C (p.Gly557=) c.4491A>C (p.Gly1497=) | |
| 1 | g.8355470C>A | CA338168090 | RERE | c.2954G>T (p.Gly985Val) c.4616G>T (p.Gly1539Val) c.3812G>T (p.Gly1271Val) c.1670G>T (p.Gly557Val) c.4490G>T (p.Gly1497Val) | |
| 1 | g.8355470C= | CA1152318850 | RERE | c.2954G= (p.Gly985=) c.4616G= (p.Gly1539=) c.3812G= (p.Gly1271=) c.1670G= (p.Gly557=) c.4490G= (p.Gly1497=) | |
| 1 | g.8355470C>G | CA338168091 | RERE | c.2954G>C (p.Gly985Ala) c.4616G>C (p.Gly1539Ala) c.3812G>C (p.Gly1271Ala) c.1670G>C (p.Gly557Ala) c.4490G>C (p.Gly1497Ala) | |
| 1 | g.8355470C>T | CA570736 | RERE | c.2954G>A (p.Gly985Glu) c.4616G>A (p.Gly1539Glu) c.3812G>A (p.Gly1271Glu) c.1670G>A (p.Gly557Glu) c.4490G>A (p.Gly1497Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355471C>A | CA338168094 | RERE | c.2953G>T (p.Gly985Ter) c.4615G>T (p.Gly1539Ter) c.3811G>T (p.Gly1271Ter) c.1669G>T (p.Gly557Ter) c.4489G>T (p.Gly1497Ter) | |
| 1 | g.8355471C>G | CA338168092 | RERE | c.2953G>C (p.Gly985Arg) c.4615G>C (p.Gly1539Arg) c.3811G>C (p.Gly1271Arg) c.1669G>C (p.Gly557Arg) c.4489G>C (p.Gly1497Arg) | |
| 1 | g.8355471C>T | CA338168093 | RERE | c.2953G>A (p.Gly985Arg) c.4615G>A (p.Gly1539Arg) c.3811G>A (p.Gly1271Arg) c.1669G>A (p.Gly557Arg) c.4489G>A (p.Gly1497Arg) | gnomAD v4 |
| 1 | g.8355472A>C | CA338168095 | RERE | c.2952T>G (p.His984Gln) c.4614T>G (p.His1538Gln) c.3810T>G (p.His1270Gln) c.1668T>G (p.His556Gln) c.4488T>G (p.His1496Gln) | |
| 1 | g.8355472A>G | CA415841797 | RERE | c.2952T>C (p.His984=) c.4614T>C (p.His1538=) c.3810T>C (p.His1270=) c.1668T>C (p.His556=) c.4488T>C (p.His1496=) | gnomAD v4 |
| 1 | g.8355472A>T | CA338168096 | RERE | c.2952T>A (p.His984Gln) c.4614T>A (p.His1538Gln) c.3810T>A (p.His1270Gln) c.1668T>A (p.His556Gln) c.4488T>A (p.His1496Gln) | |
| 1 | g.8355473T>A | CA338168097 | RERE | c.2951A>T (p.His984Leu) c.4613A>T (p.His1538Leu) c.3809A>T (p.His1270Leu) c.1667A>T (p.His556Leu) c.4487A>T (p.His1496Leu) | |
| 1 | g.8355473T>C | CA338168098 | RERE | c.2951A>G (p.His984Arg) c.4613A>G (p.His1538Arg) c.3809A>G (p.His1270Arg) c.1667A>G (p.His556Arg) c.4487A>G (p.His1496Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355473T>G | CA338168099 | RERE | c.2951A>C (p.His984Pro) c.4613A>C (p.His1538Pro) c.3809A>C (p.His1270Pro) c.1667A>C (p.His556Pro) c.4487A>C (p.His1496Pro) | |
| 1 | g.8355473T= | CA1152318851 | RERE | c.2951A= (p.His984=) c.4613A= (p.His1538=) c.3809A= (p.His1270=) c.1667A= (p.His556=) c.4487A= (p.His1496=) | |
| 1 | g.8355474G>A | CA338168100 | RERE | c.2950C>T (p.His984Tyr) c.4612C>T (p.His1538Tyr) c.3808C>T (p.His1270Tyr) c.1666C>T (p.His556Tyr) c.4486C>T (p.His1496Tyr) | |
| 1 | g.8355474G>C | CA338168101 | RERE | c.2950C>G (p.His984Asp) c.4612C>G (p.His1538Asp) c.3808C>G (p.His1270Asp) c.1666C>G (p.His556Asp) c.4486C>G (p.His1496Asp) | |
| 1 | g.8355474G>T | CA338168102 | RERE | c.2950C>A (p.His984Asn) c.4612C>A (p.His1538Asn) c.3808C>A (p.His1270Asn) c.1666C>A (p.His556Asn) c.4486C>A (p.His1496Asn) | gnomAD v4 |
| 1 | g.8355475C>A | CA415841814 | RERE | c.2949G>T (p.Leu983=) c.4611G>T (p.Leu1537=) c.3807G>T (p.Leu1269=) c.1665G>T (p.Leu555=) c.4485G>T (p.Leu1495=) | |
| 1 | g.8355475C= | CA1152318852 | RERE | c.2949G= (p.Leu983=) c.4611G= (p.Leu1537=) c.3807G= (p.Leu1269=) c.1665G= (p.Leu555=) c.4485G= (p.Leu1495=) | |
| 1 | g.8355475C>G | CA415841811 | RERE | c.2949G>C (p.Leu983=) c.4611G>C (p.Leu1537=) c.3807G>C (p.Leu1269=) c.1665G>C (p.Leu555=) c.4485G>C (p.Leu1495=) | |
| 1 | g.8355475C>T | CA415841809 | RERE | c.2949G>A (p.Leu983=) c.4611G>A (p.Leu1537=) c.3807G>A (p.Leu1269=) c.1665G>A (p.Leu555=) c.4485G>A (p.Leu1495=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355476A>C | CA338168103 | RERE | c.2948T>G (p.Leu983Arg) c.4610T>G (p.Leu1537Arg) c.3806T>G (p.Leu1269Arg) c.1664T>G (p.Leu555Arg) c.4484T>G (p.Leu1495Arg) | |
| 1 | g.8355476A>G | CA338168104 | RERE | c.2948T>C (p.Leu983Pro) c.4610T>C (p.Leu1537Pro) c.3806T>C (p.Leu1269Pro) c.1664T>C (p.Leu555Pro) c.4484T>C (p.Leu1495Pro) | |
| 1 | g.8355476A>T | CA338168105 | RERE | c.2948T>A (p.Leu983Gln) c.4610T>A (p.Leu1537Gln) c.3806T>A (p.Leu1269Gln) c.1664T>A (p.Leu555Gln) c.4484T>A (p.Leu1495Gln) | |
| 1 | g.8355477G>A | CA415841819 | RERE | c.2947C>T (p.Leu983=) c.4609C>T (p.Leu1537=) c.3805C>T (p.Leu1269=) c.1663C>T (p.Leu555=) c.4483C>T (p.Leu1495=) | |
| 1 | g.8355477G>C | CA338168106 | RERE | c.2947C>G (p.Leu983Val) c.4609C>G (p.Leu1537Val) c.3805C>G (p.Leu1269Val) c.1663C>G (p.Leu555Val) c.4483C>G (p.Leu1495Val) | |
| 1 | g.8355477G>T | CA338168107 | RERE | c.2947C>A (p.Leu983Met) c.4609C>A (p.Leu1537Met) c.3805C>A (p.Leu1269Met) c.1663C>A (p.Leu555Met) c.4483C>A (p.Leu1495Met) | |
| 1 | g.8355478C>A | CA338168108 | RERE | c.2946G>T (p.Trp982Cys) c.4608G>T (p.Trp1536Cys) c.3804G>T (p.Trp1268Cys) c.1662G>T (p.Trp554Cys) c.4482G>T (p.Trp1494Cys) | gnomAD v4 |
| 1 | g.8355478C>G | CA338168110 | RERE | c.2946G>C (p.Trp982Cys) c.4608G>C (p.Trp1536Cys) c.3804G>C (p.Trp1268Cys) c.1662G>C (p.Trp554Cys) c.4482G>C (p.Trp1494Cys) | |
| 1 | g.8355478C>T | CA338168109 | RERE | c.2946G>A (p.Trp982Ter) c.4608G>A (p.Trp1536Ter) c.3804G>A (p.Trp1268Ter) c.1662G>A (p.Trp554Ter) c.4482G>A (p.Trp1494Ter) | gnomAD v4 COSMIC |
| 1 | g.8355479C>A | CA338168111 | RERE | c.2945G>T (p.Trp982Leu) c.4607G>T (p.Trp1536Leu) c.3803G>T (p.Trp1268Leu) c.1661G>T (p.Trp554Leu) c.4481G>T (p.Trp1494Leu) | |
| 1 | g.8355479C>G | CA338168112 | RERE | c.2945G>C (p.Trp982Ser) c.4607G>C (p.Trp1536Ser) c.3803G>C (p.Trp1268Ser) c.1661G>C (p.Trp554Ser) c.4481G>C (p.Trp1494Ser) | |
| 1 | g.8355479C>T | CA338168113 | RERE | c.2945G>A (p.Trp982Ter) c.4607G>A (p.Trp1536Ter) c.3803G>A (p.Trp1268Ter) c.1661G>A (p.Trp554Ter) c.4481G>A (p.Trp1494Ter) | gnomAD v4 |
| 1 | g.8355480A>C | CA338168114 | RERE | c.2944T>G (p.Trp982Gly) c.4606T>G (p.Trp1536Gly) c.3802T>G (p.Trp1268Gly) c.1660T>G (p.Trp554Gly) c.4480T>G (p.Trp1494Gly) | |
| 1 | g.8355480A>G | CA338168115 | RERE | c.2944T>C (p.Trp982Arg) c.4606T>C (p.Trp1536Arg) c.3802T>C (p.Trp1268Arg) c.1660T>C (p.Trp554Arg) c.4480T>C (p.Trp1494Arg) | |
| 1 | g.8355480A>T | CA338168116 | RERE | c.2944T>A (p.Trp982Arg) c.4606T>A (p.Trp1536Arg) c.3802T>A (p.Trp1268Arg) c.1660T>A (p.Trp554Arg) c.4480T>A (p.Trp1494Arg) | |
| 1 | g.8355481C>A | CA338168117 | RERE | c.2943G>T (p.Gln981His) c.4605G>T (p.Gln1535His) c.3801G>T (p.Gln1267His) c.1659G>T (p.Gln553His) c.4479G>T (p.Gln1493His) | |
| 1 | g.8355481C= | CA1152318853 | RERE | c.2943G= (p.Gln981=) c.4605G= (p.Gln1535=) c.3801G= (p.Gln1267=) c.1659G= (p.Gln553=) c.4479G= (p.Gln1493=) | |
| 1 | g.8355481C>G | CA338168118 | RERE | c.2943G>C (p.Gln981His) c.4605G>C (p.Gln1535His) c.3801G>C (p.Gln1267His) c.1659G>C (p.Gln553His) c.4479G>C (p.Gln1493His) | |
| 1 | g.8355481C>T | CA415841832 | RERE | c.2943G>A (p.Gln981=) c.4605G>A (p.Gln1535=) c.3801G>A (p.Gln1267=) c.1659G>A (p.Gln553=) c.4479G>A (p.Gln1493=) | dbSNP |
| 1 | g.8355482T>A | CA338168119 | RERE | c.2942A>T (p.Gln981Leu) c.4604A>T (p.Gln1535Leu) c.3800A>T (p.Gln1267Leu) c.1658A>T (p.Gln553Leu) c.4478A>T (p.Gln1493Leu) | |
| 1 | g.8355482T>C | CA338168120 | RERE | c.2942A>G (p.Gln981Arg) c.4604A>G (p.Gln1535Arg) c.3800A>G (p.Gln1267Arg) c.1658A>G (p.Gln553Arg) c.4478A>G (p.Gln1493Arg) | |
| 1 | g.8355482T>G | CA338168121 | RERE | c.2942A>C (p.Gln981Pro) c.4604A>C (p.Gln1535Pro) c.3800A>C (p.Gln1267Pro) c.1658A>C (p.Gln553Pro) c.4478A>C (p.Gln1493Pro) | |
| 1 | g.8355483G>A | CA338168124 | RERE | c.2941C>T (p.Gln981Ter) c.4603C>T (p.Gln1535Ter) c.3799C>T (p.Gln1267Ter) c.1657C>T (p.Gln553Ter) c.4477C>T (p.Gln1493Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.8355483G>C | CA338168123 | RERE | c.2941C>G (p.Gln981Glu) c.4603C>G (p.Gln1535Glu) c.3799C>G (p.Gln1267Glu) c.1657C>G (p.Gln553Glu) c.4477C>G (p.Gln1493Glu) | |
| 1 | g.8355483G= | CA1152318854 | RERE | c.2941C= (p.Gln981=) c.4603C= (p.Gln1535=) c.3799C= (p.Gln1267=) c.1657C= (p.Gln553=) c.4477C= (p.Gln1493=) | |
| 1 | g.8355483G>T | CA338168122 | RERE | c.2941C>A (p.Gln981Lys) c.4603C>A (p.Gln1535Lys) c.3799C>A (p.Gln1267Lys) c.1657C>A (p.Gln553Lys) c.4477C>A (p.Gln1493Lys) | |
| 1 | g.8355484C>A | CA338168125 | RERE | c.2940G>T (p.Gln980His) c.4602G>T (p.Gln1534His) c.3798G>T (p.Gln1266His) c.1656G>T (p.Gln552His) c.4476G>T (p.Gln1492His) | |
| 1 | g.8355484C>G | CA338168126 | RERE | c.2940G>C (p.Gln980His) c.4602G>C (p.Gln1534His) c.3798G>C (p.Gln1266His) c.1656G>C (p.Gln552His) c.4476G>C (p.Gln1492His) | |
| 1 | g.8355484C>T | CA415841843 | RERE | c.2940G>A (p.Gln980=) c.4602G>A (p.Gln1534=) c.3798G>A (p.Gln1266=) c.1656G>A (p.Gln552=) c.4476G>A (p.Gln1492=) | gnomAD v4 |
| 1 | g.8355485T>A | CA338168127 | RERE | c.2939A>T (p.Gln980Leu) c.4601A>T (p.Gln1534Leu) c.3797A>T (p.Gln1266Leu) c.1655A>T (p.Gln552Leu) c.4475A>T (p.Gln1492Leu) | |
| 1 | g.8355485T>C | CA338168128 | RERE | c.2939A>G (p.Gln980Arg) c.4601A>G (p.Gln1534Arg) c.3797A>G (p.Gln1266Arg) c.1655A>G (p.Gln552Arg) c.4475A>G (p.Gln1492Arg) | gnomAD v4 |
| 1 | g.8355485T>G | CA338168129 | RERE | c.2939A>C (p.Gln980Pro) c.4601A>C (p.Gln1534Pro) c.3797A>C (p.Gln1266Pro) c.1655A>C (p.Gln552Pro) c.4475A>C (p.Gln1492Pro) | |
| 1 | g.8355486G>A | CA338168130 | RERE | c.2938C>T (p.Gln980Ter) c.4600C>T (p.Gln1534Ter) c.3796C>T (p.Gln1266Ter) c.1654C>T (p.Gln552Ter) c.4474C>T (p.Gln1492Ter) | |
| 1 | g.8355486G>C | CA338168131 | RERE | c.2938C>G (p.Gln980Glu) c.4600C>G (p.Gln1534Glu) c.3796C>G (p.Gln1266Glu) c.1654C>G (p.Gln552Glu) c.4474C>G (p.Gln1492Glu) | |
| 1 | g.8355486G>T | CA338168132 | RERE | c.2938C>A (p.Gln980Lys) c.4600C>A (p.Gln1534Lys) c.3796C>A (p.Gln1266Lys) c.1654C>A (p.Gln552Lys) c.4474C>A (p.Gln1492Lys) | gnomAD v4 |
| 1 | g.8355487C>A | CA338168133 | RERE | c.2937G>T (p.Glu979Asp) c.4599G>T (p.Glu1533Asp) c.3795G>T (p.Glu1265Asp) c.1653G>T (p.Glu551Asp) c.4473G>T (p.Glu1491Asp) | |
| 1 | g.8355487C>G | CA338168134 | RERE | c.2937G>C (p.Glu979Asp) c.4599G>C (p.Glu1533Asp) c.3795G>C (p.Glu1265Asp) c.1653G>C (p.Glu551Asp) c.4473G>C (p.Glu1491Asp) | |
| 1 | g.8355487C>T | CA415841854 | RERE | c.2937G>A (p.Glu979=) c.4599G>A (p.Glu1533=) c.3795G>A (p.Glu1265=) c.1653G>A (p.Glu551=) c.4473G>A (p.Glu1491=) | gnomAD v4 |
| 1 | g.8355488T>A | CA338168135 | RERE | c.2936A>T (p.Glu979Val) c.4598A>T (p.Glu1533Val) c.3794A>T (p.Glu1265Val) c.1652A>T (p.Glu551Val) c.4472A>T (p.Glu1491Val) | |
| 1 | g.8355488T>C | CA338168136 | RERE | c.2936A>G (p.Glu979Gly) c.4598A>G (p.Glu1533Gly) c.3794A>G (p.Glu1265Gly) c.1652A>G (p.Glu551Gly) c.4472A>G (p.Glu1491Gly) | dbSNP |
| 1 | g.8355488T>G | CA338168137 | RERE | c.2936A>C (p.Glu979Ala) c.4598A>C (p.Glu1533Ala) c.3794A>C (p.Glu1265Ala) c.1652A>C (p.Glu551Ala) c.4472A>C (p.Glu1491Ala) | |
| 1 | g.8355488T= | CA1152318855 | RERE | c.2936A= (p.Glu979=) c.4598A= (p.Glu1533=) c.3794A= (p.Glu1265=) c.1652A= (p.Glu551=) c.4472A= (p.Glu1491=) | |
| 1 | g.8355489C>A | CA338168139 | RERE | c.2935G>T (p.Glu979Ter) c.4597G>T (p.Glu1533Ter) c.3793G>T (p.Glu1265Ter) c.1651G>T (p.Glu551Ter) c.4471G>T (p.Glu1491Ter) | |
| 1 | g.8355489C>G | CA338168140 | RERE | c.2935G>C (p.Glu979Gln) c.4597G>C (p.Glu1533Gln) c.3793G>C (p.Glu1265Gln) c.1651G>C (p.Glu551Gln) c.4471G>C (p.Glu1491Gln) | |
| 1 | g.8355489C>T | CA338168138 | RERE | c.2935G>A (p.Glu979Lys) c.4597G>A (p.Glu1533Lys) c.3793G>A (p.Glu1265Lys) c.1651G>A (p.Glu551Lys) c.4471G>A (p.Glu1491Lys) | |
| 1 | g.8355490C>A | CA338168142 | RERE | c.2934G>T (p.Met978Ile) c.4596G>T (p.Met1532Ile) c.3792G>T (p.Met1264Ile) c.1650G>T (p.Met550Ile) c.4470G>T (p.Met1490Ile) | |
| 1 | g.8355490C>G | CA338168141 | RERE | c.2934G>C (p.Met978Ile) c.4596G>C (p.Met1532Ile) c.3792G>C (p.Met1264Ile) c.1650G>C (p.Met550Ile) c.4470G>C (p.Met1490Ile) | |
| 1 | g.8355490C>T | CA338168143 | RERE | c.2934G>A (p.Met978Ile) c.4596G>A (p.Met1532Ile) c.3792G>A (p.Met1264Ile) c.1650G>A (p.Met550Ile) c.4470G>A (p.Met1490Ile) | |
| 1 | g.8355491A= | CA1152318856 | RERE | c.2933T= (p.Met978=) c.4595T= (p.Met1532=) c.3791T= (p.Met1264=) c.1649T= (p.Met550=) c.4469T= (p.Met1490=) | |
| 1 | g.8355491A>C | CA338168144 | RERE | c.2933T>G (p.Met978Arg) c.4595T>G (p.Met1532Arg) c.3791T>G (p.Met1264Arg) c.1649T>G (p.Met550Arg) c.4469T>G (p.Met1490Arg) | |
| 1 | g.8355491A>G | CA338168146 | RERE | c.2933T>C (p.Met978Thr) c.4595T>C (p.Met1532Thr) c.3791T>C (p.Met1264Thr) c.1649T>C (p.Met550Thr) c.4469T>C (p.Met1490Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.8355491A>T | CA338168145 | RERE | c.2933T>A (p.Met978Lys) c.4595T>A (p.Met1532Lys) c.3791T>A (p.Met1264Lys) c.1649T>A (p.Met550Lys) c.4469T>A (p.Met1490Lys) | |
| 1 | g.8355492T>A | CA338168147 | RERE | c.2932A>T (p.Met978Leu) c.4594A>T (p.Met1532Leu) c.3790A>T (p.Met1264Leu) c.1648A>T (p.Met550Leu) c.4468A>T (p.Met1490Leu) | |
| 1 | g.8355492T>C | CA338168148 | RERE | c.2932A>G (p.Met978Val) c.4594A>G (p.Met1532Val) c.3790A>G (p.Met1264Val) c.1648A>G (p.Met550Val) c.4468A>G (p.Met1490Val) | ClinVar dbSNP |
| 1 | g.8355492T>G | CA338168149 | RERE | c.2932A>C (p.Met978Leu) c.4594A>C (p.Met1532Leu) c.3790A>C (p.Met1264Leu) c.1648A>C (p.Met550Leu) c.4468A>C (p.Met1490Leu) | |
| 1 | g.8355492T= | CA1152318857 | RERE | c.2932A= (p.Met978=) c.4594A= (p.Met1532=) c.3790A= (p.Met1264=) c.1648A= (p.Met550=) c.4468A= (p.Met1490=) | |
| 1 | g.8355493G>A | CA415841871 | RERE | c.2931C>T (p.Ala977=) c.4593C>T (p.Ala1531=) c.3789C>T (p.Ala1263=) c.1647C>T (p.Ala549=) c.4467C>T (p.Ala1489=) | |
| 1 | g.8355493G>C | CA415841872 | RERE | c.2931C>G (p.Ala977=) c.4593C>G (p.Ala1531=) c.3789C>G (p.Ala1263=) c.1647C>G (p.Ala549=) c.4467C>G (p.Ala1489=) | |
| 1 | g.8355493G>T | CA415841874 | RERE | c.2931C>A (p.Ala977=) c.4593C>A (p.Ala1531=) c.3789C>A (p.Ala1263=) c.1647C>A (p.Ala549=) c.4467C>A (p.Ala1489=) | |
| 1 | g.8355494G>A | CA338168150 | RERE | c.2930C>T (p.Ala977Val) c.4592C>T (p.Ala1531Val) c.3788C>T (p.Ala1263Val) c.1646C>T (p.Ala549Val) c.4466C>T (p.Ala1489Val) | gnomAD v4 |
| 1 | g.8355494G>C | CA338168151 | RERE | c.2930C>G (p.Ala977Gly) c.4592C>G (p.Ala1531Gly) c.3788C>G (p.Ala1263Gly) c.1646C>G (p.Ala549Gly) c.4466C>G (p.Ala1489Gly) | |
| 1 | g.8355494G>T | CA338168152 | RERE | c.2930C>A (p.Ala977Asp) c.4592C>A (p.Ala1531Asp) c.3788C>A (p.Ala1263Asp) c.1646C>A (p.Ala549Asp) c.4466C>A (p.Ala1489Asp) | |
| 1 | g.8355495C>A | CA570737 | RERE | c.2929G>T (p.Ala977Ser) c.4591G>T (p.Ala1531Ser) c.3787G>T (p.Ala1263Ser) c.1645G>T (p.Ala549Ser) c.4465G>T (p.Ala1489Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355495C= | CA1152318858 | RERE | c.2929G= (p.Ala977=) c.4591G= (p.Ala1531=) c.3787G= (p.Ala1263=) c.1645G= (p.Ala549=) c.4465G= (p.Ala1489=) | |
| 1 | g.8355495C>G | CA338168153 | RERE | c.2929G>C (p.Ala977Pro) c.4591G>C (p.Ala1531Pro) c.3787G>C (p.Ala1263Pro) c.1645G>C (p.Ala549Pro) c.4465G>C (p.Ala1489Pro) | |
| 1 | g.8355495C>T | CA338168154 | RERE | c.2929G>A (p.Ala977Thr) c.4591G>A (p.Ala1531Thr) c.3787G>A (p.Ala1263Thr) c.1645G>A (p.Ala549Thr) c.4465G>A (p.Ala1489Thr) | dbSNP |
| 1 | g.8355496C>A | CA415841884 | RERE | c.2928G>T (p.Leu976=) c.4590G>T (p.Leu1530=) c.3786G>T (p.Leu1262=) c.1644G>T (p.Leu548=) c.4464G>T (p.Leu1488=) | |
| 1 | g.8355496C>G | CA415841885 | RERE | c.2928G>C (p.Leu976=) c.4590G>C (p.Leu1530=) c.3786G>C (p.Leu1262=) c.1644G>C (p.Leu548=) c.4464G>C (p.Leu1488=) | |
| 1 | g.8355496C>T | CA415841887 | RERE | c.2928G>A (p.Leu976=) c.4590G>A (p.Leu1530=) c.3786G>A (p.Leu1262=) c.1644G>A (p.Leu548=) c.4464G>A (p.Leu1488=) | |
| 1 | g.8355497A>C | CA338168155 | RERE | c.2927T>G (p.Leu976Arg) c.4589T>G (p.Leu1530Arg) c.3785T>G (p.Leu1262Arg) c.1643T>G (p.Leu548Arg) c.4463T>G (p.Leu1488Arg) | |
| 1 | g.8355497A>G | CA338168156 | RERE | c.2927T>C (p.Leu976Pro) c.4589T>C (p.Leu1530Pro) c.3785T>C (p.Leu1262Pro) c.1643T>C (p.Leu548Pro) c.4463T>C (p.Leu1488Pro) | |
| 1 | g.8355497A>T | CA338168157 | RERE | c.2927T>A (p.Leu976Gln) c.4589T>A (p.Leu1530Gln) c.3785T>A (p.Leu1262Gln) c.1643T>A (p.Leu548Gln) c.4463T>A (p.Leu1488Gln) | |
| 1 | g.8355498G>A | CA415841894 | RERE | c.2926C>T (p.Leu976=) c.4588C>T (p.Leu1530=) c.3784C>T (p.Leu1262=) c.1642C>T (p.Leu548=) c.4462C>T (p.Leu1488=) | |
| 1 | g.8355498G>C | CA338168158 | RERE | c.2926C>G (p.Leu976Val) c.4588C>G (p.Leu1530Val) c.3784C>G (p.Leu1262Val) c.1642C>G (p.Leu548Val) c.4462C>G (p.Leu1488Val) | |
| 1 | g.8355498G>T | CA338168159 | RERE | c.2926C>A (p.Leu976Met) c.4588C>A (p.Leu1530Met) c.3784C>A (p.Leu1262Met) c.1642C>A (p.Leu548Met) c.4462C>A (p.Leu1488Met) | |
| 1 | g.8355499T>A | CA338168160 | RERE | c.2925A>T (p.Arg975Ser) c.4587A>T (p.Arg1529Ser) c.3783A>T (p.Arg1261Ser) c.1641A>T (p.Arg547Ser) c.4461A>T (p.Arg1487Ser) | |
| 1 | g.8355499T>C | CA570738 | RERE | c.2925A>G (p.Arg975=) c.4587A>G (p.Arg1529=) c.3783A>G (p.Arg1261=) c.1641A>G (p.Arg547=) c.4461A>G (p.Arg1487=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355499T>G | CA338168161 | RERE | c.2925A>C (p.Arg975Ser) c.4587A>C (p.Arg1529Ser) c.3783A>C (p.Arg1261Ser) c.1641A>C (p.Arg547Ser) c.4461A>C (p.Arg1487Ser) | |
| 1 | g.8355499T= | CA1152318859 | RERE | c.2925A= (p.Arg975=) c.4587A= (p.Arg1529=) c.3783A= (p.Arg1261=) c.1641A= (p.Arg547=) c.4461A= (p.Arg1487=) | |
| 1 | g.8355500C>A | CA338168162 | RERE | c.2924G>T (p.Arg975Ile) c.4586G>T (p.Arg1529Ile) c.3782G>T (p.Arg1261Ile) c.1640G>T (p.Arg547Ile) c.4460G>T (p.Arg1487Ile) | |
| 1 | g.8355500C>G | CA338168163 | RERE | c.2924G>C (p.Arg975Thr) c.4586G>C (p.Arg1529Thr) c.3782G>C (p.Arg1261Thr) c.1640G>C (p.Arg547Thr) c.4460G>C (p.Arg1487Thr) | |
| 1 | g.8355500C>T | CA338168164 | RERE | c.2924G>A (p.Arg975Lys) c.4586G>A (p.Arg1529Lys) c.3782G>A (p.Arg1261Lys) c.1640G>A (p.Arg547Lys) c.4460G>A (p.Arg1487Lys) | |
| 1 | g.8355501T>A | CA338168165 | RERE | c.2923A>T (p.Arg975Ter) c.4585A>T (p.Arg1529Ter) c.3781A>T (p.Arg1261Ter) c.1639A>T (p.Arg547Ter) c.4459A>T (p.Arg1487Ter) | |
| 1 | g.8355501T>C | CA338168166 | RERE | c.2923A>G (p.Arg975Gly) c.4585A>G (p.Arg1529Gly) c.3781A>G (p.Arg1261Gly) c.1639A>G (p.Arg547Gly) c.4459A>G (p.Arg1487Gly) | |
| 1 | g.8355501T>G | CA415841904 | RERE | c.2923A>C (p.Arg975=) c.4585A>C (p.Arg1529=) c.3781A>C (p.Arg1261=) c.1639A>C (p.Arg547=) c.4459A>C (p.Arg1487=) | |
| 1 | g.8355502C>A | CA338168167 | RERE | c.2922G>T (p.Gln974His) c.4584G>T (p.Gln1528His) c.3780G>T (p.Gln1260His) c.1638G>T (p.Gln546His) c.4458G>T (p.Gln1486His) | dbSNP gnomAD v4 |
| 1 | g.8355502C= | CA1152318860 | RERE | c.2922G= (p.Gln974=) c.4584G= (p.Gln1528=) c.3780G= (p.Gln1260=) c.1638G= (p.Gln546=) c.4458G= (p.Gln1486=) | |
| 1 | g.8355502C>G | CA338168168 | RERE | c.2922G>C (p.Gln974His) c.4584G>C (p.Gln1528His) c.3780G>C (p.Gln1260His) c.1638G>C (p.Gln546His) c.4458G>C (p.Gln1486His) | |
| 1 | g.8355502C>T | CA415841909 | RERE | c.2922G>A (p.Gln974=) c.4584G>A (p.Gln1528=) c.3780G>A (p.Gln1260=) c.1638G>A (p.Gln546=) c.4458G>A (p.Gln1486=) | |
| 1 | g.8355503T>A | CA338168169 | RERE | c.2921A>T (p.Gln974Leu) c.4583A>T (p.Gln1528Leu) c.3779A>T (p.Gln1260Leu) c.1637A>T (p.Gln546Leu) c.4457A>T (p.Gln1486Leu) | |
| 1 | g.8355503T>C | CA338168170 | RERE | c.2921A>G (p.Gln974Arg) c.4583A>G (p.Gln1528Arg) c.3779A>G (p.Gln1260Arg) c.1637A>G (p.Gln546Arg) c.4457A>G (p.Gln1486Arg) | gnomAD v4 |
| 1 | g.8355503T>G | CA338168171 | RERE | c.2921A>C (p.Gln974Pro) c.4583A>C (p.Gln1528Pro) c.3779A>C (p.Gln1260Pro) c.1637A>C (p.Gln546Pro) c.4457A>C (p.Gln1486Pro) | |
| 1 | g.8355504G>A | CA338168172 | RERE | c.2920C>T (p.Gln974Ter) c.4582C>T (p.Gln1528Ter) c.3778C>T (p.Gln1260Ter) c.1636C>T (p.Gln546Ter) c.4456C>T (p.Gln1486Ter) | gnomAD v4 |
| 1 | g.8355504G>C | CA338168174 | RERE | c.2920C>G (p.Gln974Glu) c.4582C>G (p.Gln1528Glu) c.3778C>G (p.Gln1260Glu) c.1636C>G (p.Gln546Glu) c.4456C>G (p.Gln1486Glu) | |
| 1 | g.8355504G>T | CA338168173 | RERE | c.2920C>A (p.Gln974Lys) c.4582C>A (p.Gln1528Lys) c.3778C>A (p.Gln1260Lys) c.1636C>A (p.Gln546Lys) c.4456C>A (p.Gln1486Lys) | |
| 1 | g.8355505C>A | CA415841918 | RERE | c.2919G>T (p.Leu973=) c.4581G>T (p.Leu1527=) c.3777G>T (p.Leu1259=) c.1635G>T (p.Leu545=) c.4455G>T (p.Leu1485=) | |
| 1 | g.8355505C= | CA1152318861 | RERE | c.2919G= (p.Leu973=) c.4581G= (p.Leu1527=) c.3777G= (p.Leu1259=) c.1635G= (p.Leu545=) c.4455G= (p.Leu1485=) | |
| 1 | g.8355505C>G | CA415841920 | RERE | c.2919G>C (p.Leu973=) c.4581G>C (p.Leu1527=) c.3777G>C (p.Leu1259=) c.1635G>C (p.Leu545=) c.4455G>C (p.Leu1485=) | |
| 1 | g.8355505C>T | CA415841923 | RERE | c.2919G>A (p.Leu973=) c.4581G>A (p.Leu1527=) c.3777G>A (p.Leu1259=) c.1635G>A (p.Leu545=) c.4455G>A (p.Leu1485=) | dbSNP |
| 1 | g.8355506A>C | CA338168175 | RERE | c.2918T>G (p.Leu973Arg) c.4580T>G (p.Leu1527Arg) c.3776T>G (p.Leu1259Arg) c.1634T>G (p.Leu545Arg) c.4454T>G (p.Leu1485Arg) | gnomAD v4 |
| 1 | g.8355506A>G | CA338168176 | RERE | c.2918T>C (p.Leu973Pro) c.4580T>C (p.Leu1527Pro) c.3776T>C (p.Leu1259Pro) c.1634T>C (p.Leu545Pro) c.4454T>C (p.Leu1485Pro) | |
| 1 | g.8355506A>T | CA338168177 | RERE | c.2918T>A (p.Leu973Gln) c.4580T>A (p.Leu1527Gln) c.3776T>A (p.Leu1259Gln) c.1634T>A (p.Leu545Gln) c.4454T>A (p.Leu1485Gln) | |
| 1 | g.8355507G>A | CA415841928 | RERE | c.2917C>T (p.Leu973=) c.4579C>T (p.Leu1527=) c.3775C>T (p.Leu1259=) c.1633C>T (p.Leu545=) c.4453C>T (p.Leu1485=) | gnomAD v4 |
| 1 | g.8355507G>C | CA338168178 | RERE | c.2917C>G (p.Leu973Val) c.4579C>G (p.Leu1527Val) c.3775C>G (p.Leu1259Val) c.1633C>G (p.Leu545Val) c.4453C>G (p.Leu1485Val) | |
| 1 | g.8355507G>T | CA338168179 | RERE | c.2917C>A (p.Leu973Met) c.4579C>A (p.Leu1527Met) c.3775C>A (p.Leu1259Met) c.1633C>A (p.Leu545Met) c.4453C>A (p.Leu1485Met) | gnomAD v4 |
| 1 | g.8355508C>A | CA338168180 | RERE | c.2916G>T (p.Glu972Asp) c.4578G>T (p.Glu1526Asp) c.3774G>T (p.Glu1258Asp) c.1632G>T (p.Glu544Asp) c.4452G>T (p.Glu1484Asp) | |
| 1 | g.8355508C>G | CA338168181 | RERE | c.2916G>C (p.Glu972Asp) c.4578G>C (p.Glu1526Asp) c.3774G>C (p.Glu1258Asp) c.1632G>C (p.Glu544Asp) c.4452G>C (p.Glu1484Asp) | |
| 1 | g.8355508C>T | CA415841935 | RERE | c.2916G>A (p.Glu972=) c.4578G>A (p.Glu1526=) c.3774G>A (p.Glu1258=) c.1632G>A (p.Glu544=) c.4452G>A (p.Glu1484=) | |
| 1 | g.8355509T>A | CA338168182 | RERE | c.2915A>T (p.Glu972Val) c.4577A>T (p.Glu1526Val) c.3773A>T (p.Glu1258Val) c.1631A>T (p.Glu544Val) c.4451A>T (p.Glu1484Val) | |
| 1 | g.8355509T>C | CA338168183 | RERE | c.2915A>G (p.Glu972Gly) c.4577A>G (p.Glu1526Gly) c.3773A>G (p.Glu1258Gly) c.1631A>G (p.Glu544Gly) c.4451A>G (p.Glu1484Gly) | |
| 1 | g.8355509T>G | CA338168184 | RERE | c.2915A>C (p.Glu972Ala) c.4577A>C (p.Glu1526Ala) c.3773A>C (p.Glu1258Ala) c.1631A>C (p.Glu544Ala) c.4451A>C (p.Glu1484Ala) | |
| 1 | g.8355510C>A | CA338168185 | RERE | c.2914G>T (p.Glu972Ter) c.4576G>T (p.Glu1526Ter) c.3772G>T (p.Glu1258Ter) c.1630G>T (p.Glu544Ter) c.4450G>T (p.Glu1484Ter) | gnomAD v4 |
| 1 | g.8355510C>G | CA338168186 | RERE | c.2914G>C (p.Glu972Gln) c.4576G>C (p.Glu1526Gln) c.3772G>C (p.Glu1258Gln) c.1630G>C (p.Glu544Gln) c.4450G>C (p.Glu1484Gln) | |
| 1 | g.8355510C>T | CA338168187 | RERE | c.2914G>A (p.Glu972Lys) c.4576G>A (p.Glu1526Lys) c.3772G>A (p.Glu1258Lys) c.1630G>A (p.Glu544Lys) c.4450G>A (p.Glu1484Lys) | |
| 1 | g.8355511G>A | CA415841944 | RERE | c.2913C>T (p.Ala971=) c.4575C>T (p.Ala1525=) c.3771C>T (p.Ala1257=) c.1629C>T (p.Ala543=) c.4449C>T (p.Ala1483=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.8355511G>C | CA570739 | RERE | c.2913C>G (p.Ala971=) c.4575C>G (p.Ala1525=) c.3771C>G (p.Ala1257=) c.1629C>G (p.Ala543=) c.4449C>G (p.Ala1483=) | dbSNP ExAC gnomAD v2 |
| 1 | g.8355511G= | CA1152318862 | RERE | c.2913C= (p.Ala971=) c.4575C= (p.Ala1525=) c.3771C= (p.Ala1257=) c.1629C= (p.Ala543=) c.4449C= (p.Ala1483=) | |
| 1 | g.8355511G>T | CA415841947 | RERE | c.2913C>A (p.Ala971=) c.4575C>A (p.Ala1525=) c.3771C>A (p.Ala1257=) c.1629C>A (p.Ala543=) c.4449C>A (p.Ala1483=) | gnomAD v4 |
| 1 | g.8355512G>A | CA338168188 | RERE | c.2912C>T (p.Ala971Val) c.4574C>T (p.Ala1525Val) c.3770C>T (p.Ala1257Val) c.1628C>T (p.Ala543Val) c.4448C>T (p.Ala1483Val) | |
| 1 | g.8355512G>C | CA338168189 | RERE | c.2912C>G (p.Ala971Gly) c.4574C>G (p.Ala1525Gly) c.3770C>G (p.Ala1257Gly) c.1628C>G (p.Ala543Gly) c.4448C>G (p.Ala1483Gly) | |
| 1 | g.8355512G>T | CA338168190 | RERE | c.2912C>A (p.Ala971Asp) c.4574C>A (p.Ala1525Asp) c.3770C>A (p.Ala1257Asp) c.1628C>A (p.Ala543Asp) c.4448C>A (p.Ala1483Asp) | |
| 1 | g.8355513C>A | CA338168191 | RERE | c.2911G>T (p.Ala971Ser) c.4573G>T (p.Ala1525Ser) c.3769G>T (p.Ala1257Ser) c.1627G>T (p.Ala543Ser) c.4447G>T (p.Ala1483Ser) | |
| 1 | g.8355513C>G | CA338168192 | RERE | c.2911G>C (p.Ala971Pro) c.4573G>C (p.Ala1525Pro) c.3769G>C (p.Ala1257Pro) c.1627G>C (p.Ala543Pro) c.4447G>C (p.Ala1483Pro) | |
| 1 | g.8355513C>T | CA338168193 | RERE | c.2911G>A (p.Ala971Thr) c.4573G>A (p.Ala1525Thr) c.3769G>A (p.Ala1257Thr) c.1627G>A (p.Ala543Thr) c.4447G>A (p.Ala1483Thr) | |
| 1 | g.8355514C>A | CA415841955 | RERE | c.2910G>T (p.Ser970=) c.4572G>T (p.Ser1524=) c.3768G>T (p.Ser1256=) c.1626G>T (p.Ser542=) c.4446G>T (p.Ser1482=) | |
| 1 | g.8355514C= | CA1152318863 | RERE | c.2910G= (p.Ser970=) c.4572G= (p.Ser1524=) c.3768G= (p.Ser1256=) c.1626G= (p.Ser542=) c.4446G= (p.Ser1482=) | |
| 1 | g.8355514C>G | CA415841957 | RERE | c.2910G>C (p.Ser970=) c.4572G>C (p.Ser1524=) c.3768G>C (p.Ser1256=) c.1626G>C (p.Ser542=) c.4446G>C (p.Ser1482=) | |
| 1 | g.8355514C>T | CA570740 | RERE | c.2910G>A (p.Ser970=) c.4572G>A (p.Ser1524=) c.3768G>A (p.Ser1256=) c.1626G>A (p.Ser542=) c.4446G>A (p.Ser1482=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355515G>A | CA338168194 | RERE | c.2909C>T (p.Ser970Leu) c.4571C>T (p.Ser1524Leu) c.3767C>T (p.Ser1256Leu) c.1625C>T (p.Ser542Leu) c.4445C>T (p.Ser1482Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.8355515G>C | CA338168195 | RERE | c.2909C>G (p.Ser970Trp) c.4571C>G (p.Ser1524Trp) c.3767C>G (p.Ser1256Trp) c.1625C>G (p.Ser542Trp) c.4445C>G (p.Ser1482Trp) | |
| 1 | g.8355515G= | CA1152318864 | RERE | c.2909C= (p.Ser970=) c.4571C= (p.Ser1524=) c.3767C= (p.Ser1256=) c.1625C= (p.Ser542=) c.4445C= (p.Ser1482=) | |
| 1 | g.8355515G>T | CA338168196 | RERE | c.2909C>A (p.Ser970Ter) c.4571C>A (p.Ser1524Ter) c.3767C>A (p.Ser1256Ter) c.1625C>A (p.Ser542Ter) c.4445C>A (p.Ser1482Ter) | |
| 1 | g.8355516A>C | CA338168197 | RERE | c.2908T>G (p.Ser970Ala) c.4570T>G (p.Ser1524Ala) c.3766T>G (p.Ser1256Ala) c.1624T>G (p.Ser542Ala) c.4444T>G (p.Ser1482Ala) | |
| 1 | g.8355516A>G | CA338168198 | RERE | c.2908T>C (p.Ser970Pro) c.4570T>C (p.Ser1524Pro) c.3766T>C (p.Ser1256Pro) c.1624T>C (p.Ser542Pro) c.4444T>C (p.Ser1482Pro) | |
| 1 | g.8355516A>T | CA338168199 | RERE | c.2908T>A (p.Ser970Thr) c.4570T>A (p.Ser1524Thr) c.3766T>A (p.Ser1256Thr) c.1624T>A (p.Ser542Thr) c.4444T>A (p.Ser1482Thr) | |
| 1 | g.8355517C>A | CA338168200 | RERE | c.2907G>T (p.Gln969His) c.4569G>T (p.Gln1523His) c.3765G>T (p.Gln1255His) c.1623G>T (p.Gln541His) c.4443G>T (p.Gln1481His) | |
| 1 | g.8355517C>G | CA338168201 | RERE | c.2907G>C (p.Gln969His) c.4569G>C (p.Gln1523His) c.3765G>C (p.Gln1255His) c.1623G>C (p.Gln541His) c.4443G>C (p.Gln1481His) | |
| 1 | g.8355517C>T | CA415841968 | RERE | c.2907G>A (p.Gln969=) c.4569G>A (p.Gln1523=) c.3765G>A (p.Gln1255=) c.1623G>A (p.Gln541=) c.4443G>A (p.Gln1481=) | gnomAD v4 |
| 1 | g.8355518T>A | CA338168202 | RERE | c.2906A>T (p.Gln969Leu) c.4568A>T (p.Gln1523Leu) c.3764A>T (p.Gln1255Leu) c.1622A>T (p.Gln541Leu) c.4442A>T (p.Gln1481Leu) | |
| 1 | g.8355518T>C | CA338168204 | RERE | c.2906A>G (p.Gln969Arg) c.4568A>G (p.Gln1523Arg) c.3764A>G (p.Gln1255Arg) c.1622A>G (p.Gln541Arg) c.4442A>G (p.Gln1481Arg) | |
| 1 | g.8355518T>G | CA338168203 | RERE | c.2906A>C (p.Gln969Pro) c.4568A>C (p.Gln1523Pro) c.3764A>C (p.Gln1255Pro) c.1622A>C (p.Gln541Pro) c.4442A>C (p.Gln1481Pro) | dbSNP |
| 1 | g.8355518T= | CA1152318865 | RERE | c.2906A= (p.Gln969=) c.4568A= (p.Gln1523=) c.3764A= (p.Gln1255=) c.1622A= (p.Gln541=) c.4442A= (p.Gln1481=) | |
| 1 | g.8355519G>A | CA338168205 | RERE | c.2905C>T (p.Gln969Ter) c.4567C>T (p.Gln1523Ter) c.3763C>T (p.Gln1255Ter) c.1621C>T (p.Gln541Ter) c.4441C>T (p.Gln1481Ter) | |
| 1 | g.8355519G>C | CA338168206 | RERE | c.2905C>G (p.Gln969Glu) c.4567C>G (p.Gln1523Glu) c.3763C>G (p.Gln1255Glu) c.1621C>G (p.Gln541Glu) c.4441C>G (p.Gln1481Glu) | |
| 1 | g.8355519G>T | CA338168207 | RERE | c.2905C>A (p.Gln969Lys) c.4567C>A (p.Gln1523Lys) c.3763C>A (p.Gln1255Lys) c.1621C>A (p.Gln541Lys) c.4441C>A (p.Gln1481Lys) | gnomAD v4 |
| 1 | g.8355520G>A | CA415841977 | RERE | c.2904C>T (p.Ala968=) c.4566C>T (p.Ala1522=) c.3762C>T (p.Ala1254=) c.1620C>T (p.Ala540=) c.4440C>T (p.Ala1480=) | |
| 1 | g.8355520G>C | CA415841981 | RERE | c.2904C>G (p.Ala968=) c.4566C>G (p.Ala1522=) c.3762C>G (p.Ala1254=) c.1620C>G (p.Ala540=) c.4440C>G (p.Ala1480=) | gnomAD v4 |
| 1 | g.8355520G= | CA1152318866 | RERE | c.2904C= (p.Ala968=) c.4566C= (p.Ala1522=) c.3762C= (p.Ala1254=) c.1620C= (p.Ala540=) c.4440C= (p.Ala1480=) | |
| 1 | g.8355520G>T | CA415841979 | RERE | c.2904C>A (p.Ala968=) c.4566C>A (p.Ala1522=) c.3762C>A (p.Ala1254=) c.1620C>A (p.Ala540=) c.4440C>A (p.Ala1480=) | dbSNP gnomAD v2 |
| 1 | g.8355521G>A | CA338168208 | RERE | c.2903C>T (p.Ala968Val) c.4565C>T (p.Ala1522Val) c.3761C>T (p.Ala1254Val) c.1619C>T (p.Ala540Val) c.533C>T c.4439C>T (p.Ala1480Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.8355521G>C | CA338168209 | RERE | c.2903C>G (p.Ala968Gly) c.4565C>G (p.Ala1522Gly) c.3761C>G (p.Ala1254Gly) c.1619C>G (p.Ala540Gly) c.533C>G c.4439C>G (p.Ala1480Gly) | |
| 1 | g.8355521G= | CA1152318867 | RERE | c.2903C= (p.Ala968=) c.4565C= (p.Ala1522=) c.3761C= (p.Ala1254=) c.1619C= (p.Ala540=) c.533C= c.4439C= (p.Ala1480=) | |
| 1 | g.8355521G>T | CA338168210 | RERE | c.2903C>A (p.Ala968Asp) c.4565C>A (p.Ala1522Asp) c.3761C>A (p.Ala1254Asp) c.1619C>A (p.Ala540Asp) c.533C>A c.4439C>A (p.Ala1480Asp) | |
| 1 | g.8355522C>A | CA338168211 | RERE | c.2902G>T (p.Ala968Ser) c.4564G>T (p.Ala1522Ser) c.3760G>T (p.Ala1254Ser) c.1618G>T (p.Ala540Ser) c.532G>T c.4438G>T (p.Ala1480Ser) | gnomAD v4 |
| 1 | g.8355522C= | CA1152318868 | RERE | c.2902G= (p.Ala968=) c.4564G= (p.Ala1522=) c.3760G= (p.Ala1254=) c.1618G= (p.Ala540=) c.532G= c.4438G= (p.Ala1480=) | |
| 1 | g.8355522C>G | CA338168212 | RERE | c.2902G>C (p.Ala968Pro) c.4564G>C (p.Ala1522Pro) c.3760G>C (p.Ala1254Pro) c.1618G>C (p.Ala540Pro) c.532G>C c.4438G>C (p.Ala1480Pro) | |
| 1 | g.8355522C>T | CA338168213 | RERE | c.2902G>A (p.Ala968Thr) c.4564G>A (p.Ala1522Thr) c.3760G>A (p.Ala1254Thr) c.1618G>A (p.Ala540Thr) c.532G>A c.4438G>A (p.Ala1480Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.8355523A= | CA1152318869 | RERE | c.2901T= (p.His967=) c.4563T= (p.His1521=) c.3759T= (p.His1253=) c.1617T= (p.His539=) c.531T= (p.His177=) c.4437T= (p.His1479=) | |
| 1 | g.8355523A>C | CA338168214 | RERE | c.2901T>G (p.His967Gln) c.4563T>G (p.His1521Gln) c.3759T>G (p.His1253Gln) c.1617T>G (p.His539Gln) c.531T>G (p.His177Gln) c.4437T>G (p.His1479Gln) | |
| 1 | g.8355523A>G | CA415841992 | RERE | c.2901T>C (p.His967=) c.4563T>C (p.His1521=) c.3759T>C (p.His1253=) c.1617T>C (p.His539=) c.531T>C (p.His177=) c.4437T>C (p.His1479=) | dbSNP |
| 1 | g.8355523A>T | CA338168215 | RERE | c.2901T>A (p.His967Gln) c.4563T>A (p.His1521Gln) c.3759T>A (p.His1253Gln) c.1617T>A (p.His539Gln) c.531T>A (p.His177Gln) c.4437T>A (p.His1479Gln) | |
| 1 | g.8355524T>A | CA338168218 | RERE | c.2900A>T (p.His967Leu) c.4562A>T (p.His1521Leu) c.3758A>T (p.His1253Leu) c.1616A>T (p.His539Leu) c.530A>T (p.His177Leu) c.4436A>T (p.His1479Leu) | |
| 1 | g.8355524T>C | CA338168217 | RERE | c.2900A>G (p.His967Arg) c.4562A>G (p.His1521Arg) c.3758A>G (p.His1253Arg) c.1616A>G (p.His539Arg) c.530A>G (p.His177Arg) c.4436A>G (p.His1479Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.8355524T>G | CA338168216 | RERE | c.2900A>C (p.His967Pro) c.4562A>C (p.His1521Pro) c.3758A>C (p.His1253Pro) c.1616A>C (p.His539Pro) c.530A>C (p.His177Pro) c.4436A>C (p.His1479Pro) | |
| 1 | g.8355524T= | CA1152318870 | RERE | c.2900A= (p.His967=) c.4562A= (p.His1521=) c.3758A= (p.His1253=) c.1616A= (p.His539=) c.530A= (p.His177=) c.4436A= (p.His1479=) | |
| 1 | g.8355525G>A | CA338168219 | RERE | c.2899C>T (p.His967Tyr) c.4561C>T (p.His1521Tyr) c.3757C>T (p.His1253Tyr) c.1615C>T (p.His539Tyr) c.529C>T (p.His177Tyr) c.4435C>T (p.His1479Tyr) | gnomAD v4 |
| 1 | g.8355525G>C | CA338168220 | RERE | c.2899C>G (p.His967Asp) c.4561C>G (p.His1521Asp) c.3757C>G (p.His1253Asp) c.1615C>G (p.His539Asp) c.529C>G (p.His177Asp) c.4435C>G (p.His1479Asp) | |
| 1 | g.8355525G>T | CA338168221 | RERE | c.2899C>A (p.His967Asn) c.4561C>A (p.His1521Asn) c.3757C>A (p.His1253Asn) c.1615C>A (p.His539Asn) c.529C>A (p.His177Asn) c.4435C>A (p.His1479Asn) | |
| 1 | g.8355526C>A | CA338168222 | RERE | c.2898G>T (p.Met966Ile) c.4560G>T (p.Met1520Ile) c.3756G>T (p.Met1252Ile) c.1614G>T (p.Met538Ile) c.528G>T (p.Met176Ile) c.4434G>T (p.Met1478Ile) | |
| 1 | g.8355526C>G | CA338168223 | RERE | c.2898G>C (p.Met966Ile) c.4560G>C (p.Met1520Ile) c.3756G>C (p.Met1252Ile) c.1614G>C (p.Met538Ile) c.528G>C (p.Met176Ile) c.4434G>C (p.Met1478Ile) | |
| 1 | g.8355526C>T | CA338168224 | RERE | c.2898G>A (p.Met966Ile) c.4560G>A (p.Met1520Ile) c.3756G>A (p.Met1252Ile) c.1614G>A (p.Met538Ile) c.528G>A (p.Met176Ile) c.4434G>A (p.Met1478Ile) | |
| 1 | g.8355527A>C | CA338168225 | RERE | c.2897T>G (p.Met966Arg) c.4559T>G (p.Met1520Arg) c.3755T>G (p.Met1252Arg) c.1613T>G (p.Met538Arg) c.527T>G (p.Met176Arg) c.4433T>G (p.Met1478Arg) | |
| 1 | g.8355527A>G | CA338168226 | RERE | c.2897T>C (p.Met966Thr) c.4559T>C (p.Met1520Thr) c.3755T>C (p.Met1252Thr) c.1613T>C (p.Met538Thr) c.527T>C (p.Met176Thr) c.4433T>C (p.Met1478Thr) | |
| 1 | g.8355527A>T | CA338168227 | RERE | c.2897T>A (p.Met966Lys) c.4559T>A (p.Met1520Lys) c.3755T>A (p.Met1252Lys) c.1613T>A (p.Met538Lys) c.527T>A (p.Met176Lys) c.4433T>A (p.Met1478Lys) | |
| 1 | g.8355527dup | CA2643072836 | RERE | c.2897dup (p.Met966IlefsTer?) c.4559dup (p.Met1520IlefsTer?) c.3755dup (p.Met1252IlefsTer?) c.1613dup (p.Met538IlefsTer?) c.527dup (p.Met176IlefsTer?) c.4433dup (p.Met1478IlefsTer?) | gnomAD v4 |
| 1 | g.8355528T>A | CA338168228 | RERE | c.2896A>T (p.Met966Leu) c.4558A>T (p.Met1520Leu) c.3754A>T (p.Met1252Leu) c.1612A>T (p.Met538Leu) c.526A>T (p.Met176Leu) c.4432A>T (p.Met1478Leu) | |
| 1 | g.8355528T>C | CA338168229 | RERE | c.2896A>G (p.Met966Val) c.4558A>G (p.Met1520Val) c.3754A>G (p.Met1252Val) c.1612A>G (p.Met538Val) c.526A>G (p.Met176Val) c.4432A>G (p.Met1478Val) | dbSNP gnomAD v4 |
| 1 | g.8355528T>G | CA338168230 | RERE | c.2896A>C (p.Met966Leu) c.4558A>C (p.Met1520Leu) c.3754A>C (p.Met1252Leu) c.1612A>C (p.Met538Leu) c.526A>C (p.Met176Leu) c.4432A>C (p.Met1478Leu) | |
| 1 | g.8355528T= | CA1152318871 | RERE | c.2896A= (p.Met966=) c.4558A= (p.Met1520=) c.3754A= (p.Met1252=) c.1612A= (p.Met538=) c.526A= (p.Met176=) c.4432A= (p.Met1478=) | |
| 1 | g.8355529G>A | CA415842012 | RERE | c.2895C>T (p.Ala965=) c.4557C>T (p.Ala1519=) c.3753C>T (p.Ala1251=) c.1611C>T (p.Ala537=) c.525C>T (p.Ala175=) c.4431C>T (p.Ala1477=) | |
| 1 | g.8355529G>C | CA415842014 | RERE | c.2895C>G (p.Ala965=) c.4557C>G (p.Ala1519=) c.3753C>G (p.Ala1251=) c.1611C>G (p.Ala537=) c.525C>G (p.Ala175=) c.4431C>G (p.Ala1477=) | |
| 1 | g.8355529G>T | CA415842010 | RERE | c.2895C>A (p.Ala965=) c.4557C>A (p.Ala1519=) c.3753C>A (p.Ala1251=) c.1611C>A (p.Ala537=) c.525C>A (p.Ala175=) c.4431C>A (p.Ala1477=) | gnomAD v4 |
| 1 | g.8355530G>A | CA338168233 | RERE | c.2894C>T (p.Ala965Val) c.4556C>T (p.Ala1519Val) c.3752C>T (p.Ala1251Val) c.1610C>T (p.Ala537Val) c.524C>T (p.Ala175Val) c.4430C>T (p.Ala1477Val) | gnomAD v4 COSMIC |
| 1 | g.8355530G>C | CA338168232 | RERE | c.2894C>G (p.Ala965Gly) c.4556C>G (p.Ala1519Gly) c.3752C>G (p.Ala1251Gly) c.1610C>G (p.Ala537Gly) c.524C>G (p.Ala175Gly) c.4430C>G (p.Ala1477Gly) | |
| 1 | g.8355530G>T | CA338168231 | RERE | c.2894C>A (p.Ala965Asp) c.4556C>A (p.Ala1519Asp) c.3752C>A (p.Ala1251Asp) c.1610C>A (p.Ala537Asp) c.524C>A (p.Ala175Asp) c.4430C>A (p.Ala1477Asp) | gnomAD v4 |
| 1 | g.8355531C>A | CA338168234 | RERE | c.2893G>T (p.Ala965Ser) c.4555G>T (p.Ala1519Ser) c.3751G>T (p.Ala1251Ser) c.1609G>T (p.Ala537Ser) c.523G>T (p.Ala175Ser) c.4429G>T (p.Ala1477Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.8355531C= | CA1146261592 | RERE | c.2893G= (p.Ala965=) c.4555G= (p.Ala1519=) c.3751G= (p.Ala1251=) c.1609G= (p.Ala537=) c.523G= (p.Ala175=) c.4429G= (p.Ala1477=) | |
| 1 | g.8355531C>G | CA338168235 | RERE | c.2893G>C (p.Ala965Pro) c.4555G>C (p.Ala1519Pro) c.3751G>C (p.Ala1251Pro) c.1609G>C (p.Ala537Pro) c.523G>C (p.Ala175Pro) c.4429G>C (p.Ala1477Pro) | |
| 1 | g.8355531C>T | CA570741 | RERE | c.2893G>A (p.Ala965Thr) c.4555G>A (p.Ala1519Thr) c.3751G>A (p.Ala1251Thr) c.1609G>A (p.Ala537Thr) c.523G>A (p.Ala175Thr) c.4429G>A (p.Ala1477Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.8355532C>A | CA570742 | RERE | c.2892G>T (p.Gln964His) c.4554G>T (p.Gln1518His) c.3750G>T (p.Gln1250His) c.1608G>T (p.Gln536His) c.522G>T (p.Gln174His) c.4428G>T (p.Gln1476His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355532C= | CA1152318872 | RERE | c.2892G= (p.Gln964=) c.4554G= (p.Gln1518=) c.3750G= (p.Gln1250=) c.1608G= (p.Gln536=) c.522G= (p.Gln174=) c.4428G= (p.Gln1476=) | |
| 1 | g.8355532C>G | CA338168236 | RERE | c.2892G>C (p.Gln964His) c.4554G>C (p.Gln1518His) c.3750G>C (p.Gln1250His) c.1608G>C (p.Gln536His) c.522G>C (p.Gln174His) c.4428G>C (p.Gln1476His) | |
| 1 | g.8355532C>T | CA17687080 | RERE | c.2892G>A (p.Gln964=) c.4554G>A (p.Gln1518=) c.3750G>A (p.Gln1250=) c.1608G>A (p.Gln536=) c.522G>A (p.Gln174=) c.4428G>A (p.Gln1476=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.8355533T>A | CA570743 | RERE | c.2891A>T (p.Gln964Leu) c.4553A>T (p.Gln1518Leu) c.3749A>T (p.Gln1250Leu) c.1607A>T (p.Gln536Leu) c.521A>T (p.Gln174Leu) c.4427A>T (p.Gln1476Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355533T>C | CA338168237 | RERE | c.2891A>G (p.Gln964Arg) c.4553A>G (p.Gln1518Arg) c.3749A>G (p.Gln1250Arg) c.1607A>G (p.Gln536Arg) c.521A>G (p.Gln174Arg) c.4427A>G (p.Gln1476Arg) | |
| 1 | g.8355533T>G | CA338168238 | RERE | c.2891A>C (p.Gln964Pro) c.4553A>C (p.Gln1518Pro) c.3749A>C (p.Gln1250Pro) c.1607A>C (p.Gln536Pro) c.521A>C (p.Gln174Pro) c.4427A>C (p.Gln1476Pro) | gnomAD v4 |
| 1 | g.8355533T= | CA1152318873 | RERE | c.2891A= (p.Gln964=) c.4553A= (p.Gln1518=) c.3749A= (p.Gln1250=) c.1607A= (p.Gln536=) c.521A= (p.Gln174=) c.4427A= (p.Gln1476=) |