| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197427826G>A | CA344037829 | CRB1 | c.2501G>A (p.Gly834Asp) c.1382G>A (p.Gly461Asp) c.644G>A (p.Gly215Asp) c.2165G>A (p.Gly722Asp) n.402G>A c.2294G>A (p.Gly765Asp) c.2128+5870G>A (n.2128+5870G>A) n.2502G>A n.2710G>A c.1919G>A (p.Gly640Asp) c.944G>A (p.Gly315Asp) c.1658G>A (p.Gly553Asp) n.2454G>A n.2662G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197427826G>C | CA344037832 | CRB1 | c.2501G>C (p.Gly834Ala) c.1382G>C (p.Gly461Ala) c.644G>C (p.Gly215Ala) c.2165G>C (p.Gly722Ala) n.402G>C c.2294G>C (p.Gly765Ala) c.2128+5870G>C (n.2128+5870G>C) n.2502G>C n.2710G>C c.1919G>C (p.Gly640Ala) c.944G>C (p.Gly315Ala) c.1658G>C (p.Gly553Ala) n.2454G>C n.2662G>C | |
| 1 | g.197427826G= | CA1218066318 | CRB1 | c.2501G= (p.Gly834=) c.1382G= (p.Gly461=) c.644G= (p.Gly215=) c.2165G= (p.Gly722=) n.402G= c.2294G= (p.Gly765=) c.2128+5870G= (n.2128+5870G=) n.2502G= n.2710G= c.1919G= (p.Gly640=) c.944G= (p.Gly315=) c.1658G= (p.Gly553=) n.2454G= n.2662G= | |
| 1 | g.197427826G>T | CA344037834 | CRB1 | c.2501G>T (p.Gly834Val) c.1382G>T (p.Gly461Val) c.644G>T (p.Gly215Val) c.2165G>T (p.Gly722Val) n.402G>T c.2294G>T (p.Gly765Val) c.2128+5870G>T (n.2128+5870G>T) n.2502G>T n.2710G>T c.1919G>T (p.Gly640Val) c.944G>T (p.Gly315Val) c.1658G>T (p.Gly553Val) n.2454G>T n.2662G>T | |
| 1 | g.197427826_197427830delinsGCCTA | CA1218066319 | CRB1 | c.2501_2505delinsGCCTA (p.Gly834=) c.1382_1386delinsGCCTA (p.Gly461=) c.644_648delinsGCCTA (p.Gly215=) c.2165_2169delinsGCCTA (p.Gly722=) n.402_406delinsGCCTA c.2294_2298delinsGCCTA (p.Gly765=) c.2128+5870_2128+5874delinsGCCTA (n.2128+5870_2128+5874delinsGCCTA) n.2502_2506delinsGCCTA n.2710_2714delinsGCCTA c.1919_1923delinsGCCTA (p.Gly640=) c.944_948delinsGCCTA (p.Gly315=) c.1658_1662delinsGCCTA (p.Gly553=) n.2454_2458delinsGCCTA n.2662_2666delinsGCCTA | |
| 1 | g.197427827C>A | CA422808844 | CRB1 | c.2502C>A (p.Gly834=) c.1383C>A (p.Gly461=) c.645C>A (p.Gly215=) c.2166C>A (p.Gly722=) n.403C>A c.2295C>A (p.Gly765=) c.2128+5871C>A (n.2128+5871C>A) n.2503C>A n.2711C>A c.1920C>A (p.Gly640=) c.945C>A (p.Gly315=) c.1659C>A (p.Gly553=) n.2455C>A n.2663C>A | |
| 1 | g.197427827C>G | CA422808846 | CRB1 | c.2502C>G (p.Gly834=) c.1383C>G (p.Gly461=) c.645C>G (p.Gly215=) c.2166C>G (p.Gly722=) n.403C>G c.2295C>G (p.Gly765=) c.2128+5871C>G (n.2128+5871C>G) n.2503C>G n.2711C>G c.1920C>G (p.Gly640=) c.945C>G (p.Gly315=) c.1659C>G (p.Gly553=) n.2455C>G n.2663C>G | |
| 1 | g.197427827C>T | CA422808847 | CRB1 | c.2502C>T (p.Gly834=) c.1383C>T (p.Gly461=) c.645C>T (p.Gly215=) c.2166C>T (p.Gly722=) n.403C>T c.2295C>T (p.Gly765=) c.2128+5871C>T (n.2128+5871C>T) n.2503C>T n.2711C>T c.1920C>T (p.Gly640=) c.945C>T (p.Gly315=) c.1659C>T (p.Gly553=) n.2455C>T n.2663C>T | gnomAD v4 |
| 1 | g.197427830_197427833del | CA1312129 | CRB1 | c.2505_2508del (p.Pro836ThrfsTer19) c.1386_1389del (p.Pro463ThrfsTer19) c.648_651del (p.Pro217ThrfsTer19) c.2169_2172del (p.Pro724ThrfsTer19) n.406_409del c.2298_2301del (p.Pro767ThrfsTer19) c.2128+5874_2128+5877del (n.2128+5874_2128+5877del) n.2506_2509del n.2714_2717del c.1923_1926del (p.Pro642ThrfsTer19) c.948_951del (p.Pro317ThrfsTer19) c.1662_1665del (p.Pro555ThrfsTer19) n.2458_2461del n.2666_2669del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427828C>A | CA344037846 | CRB1 | c.2503C>A (p.Leu835Ile) c.1384C>A (p.Leu462Ile) c.646C>A (p.Leu216Ile) c.2167C>A (p.Leu723Ile) n.404C>A c.2296C>A (p.Leu766Ile) c.2128+5872C>A (n.2128+5872C>A) n.2504C>A n.2712C>A c.1921C>A (p.Leu641Ile) c.946C>A (p.Leu316Ile) c.1660C>A (p.Leu554Ile) n.2456C>A n.2664C>A | |
| 1 | g.197427828C>G | CA344037843 | CRB1 | c.2503C>G (p.Leu835Val) c.1384C>G (p.Leu462Val) c.646C>G (p.Leu216Val) c.2167C>G (p.Leu723Val) n.404C>G c.2296C>G (p.Leu766Val) c.2128+5872C>G (n.2128+5872C>G) n.2504C>G n.2712C>G c.1921C>G (p.Leu641Val) c.946C>G (p.Leu316Val) c.1660C>G (p.Leu554Val) n.2456C>G n.2664C>G | |
| 1 | g.197427828C>T | CA422808851 | CRB1 | c.2503C>T (p.Leu835=) c.1384C>T (p.Leu462=) c.646C>T (p.Leu216=) c.2167C>T (p.Leu723=) n.404C>T c.2296C>T (p.Leu766=) c.2128+5872C>T (n.2128+5872C>T) n.2504C>T n.2712C>T c.1921C>T (p.Leu641=) c.946C>T (p.Leu316=) c.1660C>T (p.Leu554=) n.2456C>T n.2664C>T | |
| 1 | g.197427829T>A | CA344037848 | CRB1 | c.2504T>A (p.Leu835Gln) c.1385T>A (p.Leu462Gln) c.647T>A (p.Leu216Gln) c.2168T>A (p.Leu723Gln) n.405T>A c.2297T>A (p.Leu766Gln) c.2128+5873T>A (n.2128+5873T>A) n.2505T>A n.2713T>A c.1922T>A (p.Leu641Gln) c.947T>A (p.Leu316Gln) c.1661T>A (p.Leu554Gln) n.2457T>A n.2665T>A | |
| 1 | g.197427829T>C | CA344037851 | CRB1 | c.2504T>C (p.Leu835Pro) c.1385T>C (p.Leu462Pro) c.647T>C (p.Leu216Pro) c.2168T>C (p.Leu723Pro) n.405T>C c.2297T>C (p.Leu766Pro) c.2128+5873T>C (n.2128+5873T>C) n.2505T>C n.2713T>C c.1922T>C (p.Leu641Pro) c.947T>C (p.Leu316Pro) c.1661T>C (p.Leu554Pro) n.2457T>C n.2665T>C | gnomAD v4 |
| 1 | g.197427829T>G | CA344037854 | CRB1 | c.2504T>G (p.Leu835Arg) c.1385T>G (p.Leu462Arg) c.647T>G (p.Leu216Arg) c.2168T>G (p.Leu723Arg) n.405T>G c.2297T>G (p.Leu766Arg) c.2128+5873T>G (n.2128+5873T>G) n.2505T>G n.2713T>G c.1922T>G (p.Leu641Arg) c.947T>G (p.Leu316Arg) c.1661T>G (p.Leu554Arg) n.2457T>G n.2665T>G | |
| 1 | g.197427830A= | CA1218066322 | CRB1 | c.2505A= (p.Leu835=) c.1386A= (p.Leu462=) c.648A= (p.Leu216=) c.2169A= (p.Leu723=) n.406A= c.2298A= (p.Leu766=) c.2128+5874A= (n.2128+5874A=) n.2506A= n.2714A= c.1923A= (p.Leu641=) c.948A= (p.Leu316=) c.1662A= (p.Leu554=) n.2458A= n.2666A= | |
| 1 | g.197427830A>C | CA422808854 | CRB1 | c.2505A>C (p.Leu835=) c.1386A>C (p.Leu462=) c.648A>C (p.Leu216=) c.2169A>C (p.Leu723=) n.406A>C c.2298A>C (p.Leu766=) c.2128+5874A>C (n.2128+5874A>C) n.2506A>C n.2714A>C c.1923A>C (p.Leu641=) c.948A>C (p.Leu316=) c.1662A>C (p.Leu554=) n.2458A>C n.2666A>C | |
| 1 | g.197427830A>G | CA422808855 | CRB1 | c.2505A>G (p.Leu835=) c.1386A>G (p.Leu462=) c.648A>G (p.Leu216=) c.2169A>G (p.Leu723=) n.406A>G c.2298A>G (p.Leu766=) c.2128+5874A>G (n.2128+5874A>G) n.2506A>G n.2714A>G c.1923A>G (p.Leu641=) c.948A>G (p.Leu316=) c.1662A>G (p.Leu554=) n.2458A>G n.2666A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.197427830A>T | CA422808856 | CRB1 | c.2505A>T (p.Leu835=) c.1386A>T (p.Leu462=) c.648A>T (p.Leu216=) c.2169A>T (p.Leu723=) n.406A>T c.2298A>T (p.Leu766=) c.2128+5874A>T (n.2128+5874A>T) n.2506A>T n.2714A>T c.1923A>T (p.Leu641=) c.948A>T (p.Leu316=) c.1662A>T (p.Leu554=) n.2458A>T n.2666A>T | |
| 1 | g.197427831C>A | CA1312130 | CRB1 | c.2506C>A (p.Pro836Thr) c.1387C>A (p.Pro463Thr) c.649C>A (p.Pro217Thr) c.2170C>A (p.Pro724Thr) n.407C>A c.2299C>A (p.Pro767Thr) c.2128+5875C>A (n.2128+5875C>A) n.2507C>A n.2715C>A c.1924C>A (p.Pro642Thr) c.949C>A (p.Pro317Thr) c.1663C>A (p.Pro555Thr) n.2459C>A n.2667C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427831C= | CA1141533191 | CRB1 | c.2506C= (p.Pro836=) c.1387C= (p.Pro463=) c.649C= (p.Pro217=) c.2170C= (p.Pro724=) n.407C= c.2299C= (p.Pro767=) c.2128+5875C= (n.2128+5875C=) n.2507C= n.2715C= c.1924C= (p.Pro642=) c.949C= (p.Pro317=) c.1663C= (p.Pro555=) n.2459C= n.2667C= | |
| 1 | g.197427831C>G | CA344037858 | CRB1 | c.2506C>G (p.Pro836Ala) c.1387C>G (p.Pro463Ala) c.649C>G (p.Pro217Ala) c.2170C>G (p.Pro724Ala) n.407C>G c.2299C>G (p.Pro767Ala) c.2128+5875C>G (n.2128+5875C>G) n.2507C>G n.2715C>G c.1924C>G (p.Pro642Ala) c.949C>G (p.Pro317Ala) c.1663C>G (p.Pro555Ala) n.2459C>G n.2667C>G | |
| 1 | g.197427831C>T | CA344037860 | CRB1 | c.2506C>T (p.Pro836Ser) c.1387C>T (p.Pro463Ser) c.649C>T (p.Pro217Ser) c.2170C>T (p.Pro724Ser) n.407C>T c.2299C>T (p.Pro767Ser) c.2128+5875C>T (n.2128+5875C>T) n.2507C>T n.2715C>T c.1924C>T (p.Pro642Ser) c.949C>T (p.Pro317Ser) c.1663C>T (p.Pro555Ser) n.2459C>T n.2667C>T | |
| 1 | g.197427832C>A | CA344037864 | CRB1 | c.2507C>A (p.Pro836His) c.1388C>A (p.Pro463His) c.650C>A (p.Pro217His) c.2171C>A (p.Pro724His) n.408C>A c.2300C>A (p.Pro767His) c.2128+5876C>A (n.2128+5876C>A) n.2508C>A n.2716C>A c.1925C>A (p.Pro642His) c.950C>A (p.Pro317His) c.1664C>A (p.Pro555His) n.2460C>A n.2668C>A | |
| 1 | g.197427832C>G | CA344037869 | CRB1 | c.2507C>G (p.Pro836Arg) c.1388C>G (p.Pro463Arg) c.650C>G (p.Pro217Arg) c.2171C>G (p.Pro724Arg) n.408C>G c.2300C>G (p.Pro767Arg) c.2128+5876C>G (n.2128+5876C>G) n.2508C>G n.2716C>G c.1925C>G (p.Pro642Arg) c.950C>G (p.Pro317Arg) c.1664C>G (p.Pro555Arg) n.2460C>G n.2668C>G | |
| 1 | g.197427832C>T | CA344037867 | CRB1 | c.2507C>T (p.Pro836Leu) c.1388C>T (p.Pro463Leu) c.650C>T (p.Pro217Leu) c.2171C>T (p.Pro724Leu) n.408C>T c.2300C>T (p.Pro767Leu) c.2128+5876C>T (n.2128+5876C>T) n.2508C>T n.2716C>T c.1925C>T (p.Pro642Leu) c.950C>T (p.Pro317Leu) c.1664C>T (p.Pro555Leu) n.2460C>T n.2668C>T | |
| 1 | g.197427833T>A | CA422808861 | CRB1 | c.2508T>A (p.Pro836=) c.1389T>A (p.Pro463=) c.651T>A (p.Pro217=) c.2172T>A (p.Pro724=) n.409T>A c.2301T>A (p.Pro767=) c.2128+5877T>A (n.2128+5877T>A) n.2509T>A n.2717T>A c.1926T>A (p.Pro642=) c.951T>A (p.Pro317=) c.1665T>A (p.Pro555=) n.2461T>A n.2669T>A | dbSNP |
| 1 | g.197427833T>C | CA422808863 | CRB1 | c.2508T>C (p.Pro836=) c.1389T>C (p.Pro463=) c.651T>C (p.Pro217=) c.2172T>C (p.Pro724=) n.409T>C c.2301T>C (p.Pro767=) c.2128+5877T>C (n.2128+5877T>C) n.2509T>C n.2717T>C c.1926T>C (p.Pro642=) c.951T>C (p.Pro317=) c.1665T>C (p.Pro555=) n.2461T>C n.2669T>C | |
| 1 | g.197427833T>G | CA422808862 | CRB1 | c.2508T>G (p.Pro836=) c.1389T>G (p.Pro463=) c.651T>G (p.Pro217=) c.2172T>G (p.Pro724=) n.409T>G c.2301T>G (p.Pro767=) c.2128+5877T>G (n.2128+5877T>G) n.2509T>G n.2717T>G c.1926T>G (p.Pro642=) c.951T>G (p.Pro317=) c.1665T>G (p.Pro555=) n.2461T>G n.2669T>G | |
| 1 | g.197427834G>A | CA344037870 | CRB1 | c.2509G>A (p.Asp837Asn) c.1390G>A (p.Asp464Asn) c.652G>A (p.Asp218Asn) c.2173G>A (p.Asp725Asn) n.410G>A c.2302G>A (p.Asp768Asn) c.2128+5878G>A (n.2128+5878G>A) n.2510G>A n.2718G>A c.1927G>A (p.Asp643Asn) c.952G>A (p.Asp318Asn) c.1666G>A (p.Asp556Asn) n.2462G>A n.2670G>A | |
| 1 | g.197427834G>C | CA228011 | CRB1 | c.2509G>C (p.Asp837His) c.1390G>C (p.Asp464His) c.652G>C (p.Asp218His) c.2173G>C (p.Asp725His) n.410G>C c.2302G>C (p.Asp768His) c.2128+5878G>C (n.2128+5878G>C) n.2510G>C n.2718G>C c.1927G>C (p.Asp643His) c.952G>C (p.Asp318His) c.1666G>C (p.Asp556His) n.2462G>C n.2670G>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.197427834G= | CA1140762945 | CRB1 | c.2509G= (p.Asp837=) c.1390G= (p.Asp464=) c.652G= (p.Asp218=) c.2173G= (p.Asp725=) n.410G= c.2302G= (p.Asp768=) c.2128+5878G= (n.2128+5878G=) n.2510G= n.2718G= c.1927G= (p.Asp643=) c.952G= (p.Asp318=) c.1666G= (p.Asp556=) n.2462G= n.2670G= | |
| 1 | g.197427834G>T | CA344037873 | CRB1 | c.2509G>T (p.Asp837Tyr) c.1390G>T (p.Asp464Tyr) c.652G>T (p.Asp218Tyr) c.2173G>T (p.Asp725Tyr) n.410G>T c.2302G>T (p.Asp768Tyr) c.2128+5878G>T (n.2128+5878G>T) n.2510G>T n.2718G>T c.1927G>T (p.Asp643Tyr) c.952G>T (p.Asp318Tyr) c.1666G>T (p.Asp556Tyr) n.2462G>T n.2670G>T | |
| 1 | g.197427835A>C | CA344037874 | CRB1 | c.2510A>C (p.Asp837Ala) c.1391A>C (p.Asp464Ala) c.653A>C (p.Asp218Ala) c.2174A>C (p.Asp725Ala) n.411A>C c.2303A>C (p.Asp768Ala) c.2128+5879A>C (n.2128+5879A>C) n.2511A>C n.2719A>C c.1928A>C (p.Asp643Ala) c.953A>C (p.Asp318Ala) c.1667A>C (p.Asp556Ala) n.2463A>C n.2671A>C | |
| 1 | g.197427835A>G | CA344037876 | CRB1 | c.2510A>G (p.Asp837Gly) c.1391A>G (p.Asp464Gly) c.653A>G (p.Asp218Gly) c.2174A>G (p.Asp725Gly) n.411A>G c.2303A>G (p.Asp768Gly) c.2128+5879A>G (n.2128+5879A>G) n.2511A>G n.2719A>G c.1928A>G (p.Asp643Gly) c.953A>G (p.Asp318Gly) c.1667A>G (p.Asp556Gly) n.2463A>G n.2671A>G | |
| 1 | g.197427835A>T | CA344037879 | CRB1 | c.2510A>T (p.Asp837Val) c.1391A>T (p.Asp464Val) c.653A>T (p.Asp218Val) c.2174A>T (p.Asp725Val) n.411A>T c.2303A>T (p.Asp768Val) c.2128+5879A>T (n.2128+5879A>T) n.2511A>T n.2719A>T c.1928A>T (p.Asp643Val) c.953A>T (p.Asp318Val) c.1667A>T (p.Asp556Val) n.2463A>T n.2671A>T | |
| 1 | g.197427836C>A | CA344037895 | CRB1 | c.2511C>A (p.Asp837Glu) c.1392C>A (p.Asp464Glu) c.654C>A (p.Asp218Glu) c.2175C>A (p.Asp725Glu) n.412C>A c.2304C>A (p.Asp768Glu) c.2128+5880C>A (n.2128+5880C>A) n.2512C>A n.2720C>A c.1929C>A (p.Asp643Glu) c.954C>A (p.Asp318Glu) c.1668C>A (p.Asp556Glu) n.2464C>A n.2672C>A | gnomAD v4 |
| 1 | g.197427836C= | CA1218066329 | CRB1 | c.2511C= (p.Asp837=) c.1392C= (p.Asp464=) c.654C= (p.Asp218=) c.2175C= (p.Asp725=) n.412C= c.2304C= (p.Asp768=) c.2128+5880C= (n.2128+5880C=) n.2512C= n.2720C= c.1929C= (p.Asp643=) c.954C= (p.Asp318=) c.1668C= (p.Asp556=) n.2464C= n.2672C= | |
| 1 | g.197427836C>G | CA344037897 | CRB1 | c.2511C>G (p.Asp837Glu) c.1392C>G (p.Asp464Glu) c.654C>G (p.Asp218Glu) c.2175C>G (p.Asp725Glu) n.412C>G c.2304C>G (p.Asp768Glu) c.2128+5880C>G (n.2128+5880C>G) n.2512C>G n.2720C>G c.1929C>G (p.Asp643Glu) c.954C>G (p.Asp318Glu) c.1668C>G (p.Asp556Glu) n.2464C>G n.2672C>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197427836C>T | CA422808864 | CRB1 | c.2511C>T (p.Asp837=) c.1392C>T (p.Asp464=) c.654C>T (p.Asp218=) c.2175C>T (p.Asp725=) n.412C>T c.2304C>T (p.Asp768=) c.2128+5880C>T (n.2128+5880C>T) n.2512C>T n.2720C>T c.1929C>T (p.Asp643=) c.954C>T (p.Asp318=) c.1668C>T (p.Asp556=) n.2464C>T n.2672C>T | |
| 1 | g.197427837A>C | CA344037901 | CRB1 | c.2512A>C (p.Lys838Gln) c.1393A>C (p.Lys465Gln) c.655A>C (p.Lys219Gln) c.2176A>C (p.Lys726Gln) n.413A>C c.2305A>C (p.Lys769Gln) c.2128+5881A>C (n.2128+5881A>C) n.2513A>C n.2721A>C c.1930A>C (p.Lys644Gln) c.955A>C (p.Lys319Gln) c.1669A>C (p.Lys557Gln) n.2465A>C n.2673A>C | gnomAD v4 |
| 1 | g.197427837A>G | CA344037904 | CRB1 | c.2512A>G (p.Lys838Glu) c.1393A>G (p.Lys465Glu) c.655A>G (p.Lys219Glu) c.2176A>G (p.Lys726Glu) n.413A>G c.2305A>G (p.Lys769Glu) c.2128+5881A>G (n.2128+5881A>G) n.2513A>G n.2721A>G c.1930A>G (p.Lys644Glu) c.955A>G (p.Lys319Glu) c.1669A>G (p.Lys557Glu) n.2465A>G n.2673A>G | |
| 1 | g.197427837A>T | CA344037906 | CRB1 | c.2512A>T (p.Lys838Ter) c.1393A>T (p.Lys465Ter) c.655A>T (p.Lys219Ter) c.2176A>T (p.Lys726Ter) n.413A>T c.2305A>T (p.Lys769Ter) c.2128+5881A>T (n.2128+5881A>T) n.2513A>T n.2721A>T c.1930A>T (p.Lys644Ter) c.955A>T (p.Lys319Ter) c.1669A>T (p.Lys557Ter) n.2465A>T n.2673A>T | gnomAD v4 |
| 1 | g.197427838A>C | CA344037907 | CRB1 | c.2513A>C (p.Lys838Thr) c.1394A>C (p.Lys465Thr) c.656A>C (p.Lys219Thr) c.2177A>C (p.Lys726Thr) c.2306A>C (p.Lys769Thr) c.2128+5882A>C (n.2128+5882A>C) n.2514A>C n.2722A>C c.1931A>C (p.Lys644Thr) c.956A>C (p.Lys319Thr) c.1670A>C (p.Lys557Thr) n.2466A>C n.2674A>C | |
| 1 | g.197427838A>G | CA344037909 | CRB1 | c.2513A>G (p.Lys838Arg) c.1394A>G (p.Lys465Arg) c.656A>G (p.Lys219Arg) c.2177A>G (p.Lys726Arg) c.2306A>G (p.Lys769Arg) c.2128+5882A>G (n.2128+5882A>G) n.2514A>G n.2722A>G c.1931A>G (p.Lys644Arg) c.956A>G (p.Lys319Arg) c.1670A>G (p.Lys557Arg) n.2466A>G n.2674A>G | |
| 1 | g.197427838A>T | CA344037908 | CRB1 | c.2513A>T (p.Lys838Met) c.1394A>T (p.Lys465Met) c.656A>T (p.Lys219Met) c.2177A>T (p.Lys726Met) c.2306A>T (p.Lys769Met) c.2128+5882A>T (n.2128+5882A>T) n.2514A>T n.2722A>T c.1931A>T (p.Lys644Met) c.956A>T (p.Lys319Met) c.1670A>T (p.Lys557Met) n.2466A>T n.2674A>T | |
| 1 | g.197427839G>A | CA422808870 | CRB1 | c.2514G>A (p.Lys838=) c.1395G>A (p.Lys465=) c.657G>A (p.Lys219=) c.2178G>A (p.Lys726=) c.2307G>A (p.Lys769=) c.2128+5883G>A (n.2128+5883G>A) n.2515G>A n.2723G>A c.1932G>A (p.Lys644=) c.957G>A (p.Lys319=) c.1671G>A (p.Lys557=) n.2467G>A n.2675G>A | |
| 1 | g.197427839G>C | CA344037911 | CRB1 | c.2514G>C (p.Lys838Asn) c.1395G>C (p.Lys465Asn) c.657G>C (p.Lys219Asn) c.2178G>C (p.Lys726Asn) c.2307G>C (p.Lys769Asn) c.2128+5883G>C (n.2128+5883G>C) n.2515G>C n.2723G>C c.1932G>C (p.Lys644Asn) c.957G>C (p.Lys319Asn) c.1671G>C (p.Lys557Asn) n.2467G>C n.2675G>C | gnomAD v4 |
| 1 | g.197427839G>T | CA344037913 | CRB1 | c.2514G>T (p.Lys838Asn) c.1395G>T (p.Lys465Asn) c.657G>T (p.Lys219Asn) c.2178G>T (p.Lys726Asn) c.2307G>T (p.Lys769Asn) c.2128+5883G>T (n.2128+5883G>T) n.2515G>T n.2723G>T c.1932G>T (p.Lys644Asn) c.957G>T (p.Lys319Asn) c.1671G>T (p.Lys557Asn) n.2467G>T n.2675G>T | |
| 1 | g.197427840C>A | CA344037915 | CRB1 | c.2515C>A (p.Gln839Lys) c.1396C>A (p.Gln466Lys) c.658C>A (p.Gln220Lys) c.2179C>A (p.Gln727Lys) c.2308C>A (p.Gln770Lys) c.2128+5884C>A (n.2128+5884C>A) n.2516C>A n.2724C>A c.1933C>A (p.Gln645Lys) c.958C>A (p.Gln320Lys) c.1672C>A (p.Gln558Lys) n.2468C>A n.2676C>A | gnomAD v4 COSMIC COSMIC |