Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197427826G>ACA344037829CRB1c.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
1g.197427826G>CCA344037832CRB1c.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
1g.197427826G=CA1218066318CRB1c.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=
1g.197427826G>TCA344037834CRB1c.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
1g.197427826_197427830delinsGCCTACA1218066319CRB1c.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
1g.197427827C>ACA422808844CRB1c.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
1g.197427827C>GCA422808846CRB1c.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
1g.197427827C>TCA422808847CRB1c.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
1g.197427830_197427833delCA1312129CRB1c.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
1g.197427828C>ACA344037846CRB1c.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
1g.197427828C>GCA344037843CRB1c.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
1g.197427828C>TCA422808851CRB1c.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
1g.197427829T>ACA344037848CRB1c.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
1g.197427829T>CCA344037851CRB1c.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
1g.197427829T>GCA344037854CRB1c.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
1g.197427830A=CA1218066322CRB1c.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=
1g.197427830A>CCA422808854CRB1c.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
1g.197427830A>GCA422808855CRB1c.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
1g.197427830A>TCA422808856CRB1c.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
1g.197427831C>ACA1312130CRB1c.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
1g.197427831C=CA1141533191CRB1c.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=
1g.197427831C>GCA344037858CRB1c.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
1g.197427831C>TCA344037860CRB1c.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
1g.197427832C>ACA344037864CRB1c.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
1g.197427832C>GCA344037869CRB1c.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
1g.197427832C>TCA344037867CRB1c.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
1g.197427833T>ACA422808861CRB1c.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
1g.197427833T>CCA422808863CRB1c.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
1g.197427833T>GCA422808862CRB1c.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
1g.197427834G>ACA344037870CRB1c.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
1g.197427834G>CCA228011CRB1c.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
1g.197427834G=CA1140762945CRB1c.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=
1g.197427834G>TCA344037873CRB1c.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
1g.197427835A>CCA344037874CRB1c.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
1g.197427835A>GCA344037876CRB1c.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
1g.197427835A>TCA344037879CRB1c.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
1g.197427836C>ACA344037895CRB1c.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
1g.197427836C=CA1218066329CRB1c.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=
1g.197427836C>GCA344037897CRB1c.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
1g.197427836C>TCA422808864CRB1c.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
1g.197427837A>CCA344037901CRB1c.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
1g.197427837A>GCA344037904CRB1c.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
1g.197427837A>TCA344037906CRB1c.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
1g.197427838A>CCA344037907CRB1c.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
1g.197427838A>GCA344037909CRB1c.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
1g.197427838A>TCA344037908CRB1c.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
1g.197427839G>ACA422808870CRB1c.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
1g.197427839G>CCA344037911CRB1c.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
1g.197427839G>TCA344037913CRB1c.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
1g.197427840C>ACA344037915CRB1c.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
1g.197427840C=CA1218066331CRB1c.2515C= (p.Gln839=)
c.1396C= (p.Gln466=)
c.658C= (p.Gln220=)
c.2179C= (p.Gln727=)
c.2308C= (p.Gln770=)
c.2128+5884C= (n.2128+5884C=)
n.2516C=
n.2724C=
c.1933C= (p.Gln645=)
c.958C= (p.Gln320=)
c.1672C= (p.Gln558=)
n.2468C=
n.2676C=
1g.197427840C>GCA344037924CRB1c.2515C>G (p.Gln839Glu)
c.1396C>G (p.Gln466Glu)
c.658C>G (p.Gln220Glu)
c.2179C>G (p.Gln727Glu)
c.2308C>G (p.Gln770Glu)
c.2128+5884C>G (n.2128+5884C>G)
n.2516C>G
n.2724C>G
c.1933C>G (p.Gln645Glu)
c.958C>G (p.Gln320Glu)
c.1672C>G (p.Gln558Glu)
n.2468C>G
n.2676C>G
 dbSNP gnomAD v2
1g.197427840C>TCA344037928CRB1c.2515C>T (p.Gln839Ter)
c.1396C>T (p.Gln466Ter)
c.658C>T (p.Gln220Ter)
c.2179C>T (p.Gln727Ter)
c.2308C>T (p.Gln770Ter)
c.2128+5884C>T (n.2128+5884C>T)
n.2516C>T
n.2724C>T
c.1933C>T (p.Gln645Ter)
c.958C>T (p.Gln320Ter)
c.1672C>T (p.Gln558Ter)
n.2468C>T
n.2676C>T
1g.197427841A>CCA344037930CRB1c.2516A>C (p.Gln839Pro)
c.1397A>C (p.Gln466Pro)
c.659A>C (p.Gln220Pro)
c.2180A>C (p.Gln727Pro)
c.2309A>C (p.Gln770Pro)
c.2128+5885A>C (n.2128+5885A>C)
n.2517A>C
n.2725A>C
c.1934A>C (p.Gln645Pro)
c.959A>C (p.Gln320Pro)
c.1673A>C (p.Gln558Pro)
n.2469A>C
n.2677A>C
1g.197427841A>GCA344037933CRB1c.2516A>G (p.Gln839Arg)
c.1397A>G (p.Gln466Arg)
c.659A>G (p.Gln220Arg)
c.2180A>G (p.Gln727Arg)
c.2309A>G (p.Gln770Arg)
c.2128+5885A>G (n.2128+5885A>G)
n.2517A>G
n.2725A>G
c.1934A>G (p.Gln645Arg)
c.959A>G (p.Gln320Arg)
c.1673A>G (p.Gln558Arg)
n.2469A>G
n.2677A>G
1g.197427841A>TCA344037936CRB1c.2516A>T (p.Gln839Leu)
c.1397A>T (p.Gln466Leu)
c.659A>T (p.Gln220Leu)
c.2180A>T (p.Gln727Leu)
c.2309A>T (p.Gln770Leu)
c.2128+5885A>T (n.2128+5885A>T)
n.2517A>T
n.2725A>T
c.1934A>T (p.Gln645Leu)
c.959A>T (p.Gln320Leu)
c.1673A>T (p.Gln558Leu)
n.2469A>T
n.2677A>T
1g.197427842A>CCA344037937CRB1c.2517A>C (p.Gln839His)
c.1398A>C (p.Gln466His)
c.660A>C (p.Gln220His)
c.2181A>C (p.Gln727His)
c.2310A>C (p.Gln770His)
c.2128+5886A>C (n.2128+5886A>C)
n.2518A>C
n.2726A>C
c.1935A>C (p.Gln645His)
c.960A>C (p.Gln320His)
c.1674A>C (p.Gln558His)
n.2470A>C
n.2678A>C
1g.197427842A>GCA422808872CRB1c.2517A>G (p.Gln839=)
c.1398A>G (p.Gln466=)
c.660A>G (p.Gln220=)
c.2181A>G (p.Gln727=)
c.2310A>G (p.Gln770=)
c.2128+5886A>G (n.2128+5886A>G)
n.2518A>G
n.2726A>G
c.1935A>G (p.Gln645=)
c.960A>G (p.Gln320=)
c.1674A>G (p.Gln558=)
n.2470A>G
n.2678A>G
 ClinVar gnomAD v4
1g.197427842A>TCA344037939CRB1c.2517A>T (p.Gln839His)
c.1398A>T (p.Gln466His)
c.660A>T (p.Gln220His)
c.2181A>T (p.Gln727His)
c.2310A>T (p.Gln770His)
c.2128+5886A>T (n.2128+5886A>T)
n.2518A>T
n.2726A>T
c.1935A>T (p.Gln645His)
c.960A>T (p.Gln320His)
c.1674A>T (p.Gln558His)
n.2470A>T
n.2678A>T
1g.197427843G>ACA344037948CRB1c.2518G>A (p.Glu840Lys)
c.1399G>A (p.Glu467Lys)
c.661G>A (p.Glu221Lys)
c.2182G>A (p.Glu728Lys)
c.2311G>A (p.Glu771Lys)
c.2128+5887G>A (n.2128+5887G>A)
n.2519G>A
n.2727G>A
c.1936G>A (p.Glu646Lys)
c.961G>A (p.Glu321Lys)
c.1675G>A (p.Glu559Lys)
n.2471G>A
n.2679G>A
1g.197427843G>CCA344037950CRB1c.2518G>C (p.Glu840Gln)
c.1399G>C (p.Glu467Gln)
c.661G>C (p.Glu221Gln)
c.2182G>C (p.Glu728Gln)
c.2311G>C (p.Glu771Gln)
c.2128+5887G>C (n.2128+5887G>C)
n.2519G>C
n.2727G>C
c.1936G>C (p.Glu646Gln)
c.961G>C (p.Glu321Gln)
c.1675G>C (p.Glu559Gln)
n.2471G>C
n.2679G>C
1g.197427843G>TCA344037957CRB1c.2518G>T (p.Glu840Ter)
c.1399G>T (p.Glu467Ter)
c.661G>T (p.Glu221Ter)
c.2182G>T (p.Glu728Ter)
c.2311G>T (p.Glu771Ter)
c.2128+5887G>T (n.2128+5887G>T)
n.2519G>T
n.2727G>T
c.1936G>T (p.Glu646Ter)
c.961G>T (p.Glu321Ter)
c.1675G>T (p.Glu559Ter)
n.2471G>T
n.2679G>T
1g.197427844A>CCA344037963CRB1c.2519A>C (p.Glu840Ala)
c.1400A>C (p.Glu467Ala)
c.662A>C (p.Glu221Ala)
c.2183A>C (p.Glu728Ala)
c.2312A>C (p.Glu771Ala)
c.2128+5888A>C (n.2128+5888A>C)
n.2520A>C
n.2728A>C
c.1937A>C (p.Glu646Ala)
c.962A>C (p.Glu321Ala)
c.1676A>C (p.Glu559Ala)
n.2472A>C
n.2680A>C
1g.197427844A>GCA344037970CRB1c.2519A>G (p.Glu840Gly)
c.1400A>G (p.Glu467Gly)
c.662A>G (p.Glu221Gly)
c.2183A>G (p.Glu728Gly)
c.2312A>G (p.Glu771Gly)
c.2128+5888A>G (n.2128+5888A>G)
n.2520A>G
n.2728A>G
c.1937A>G (p.Glu646Gly)
c.962A>G (p.Glu321Gly)
c.1676A>G (p.Glu559Gly)
n.2472A>G
n.2680A>G
 dbSNP
1g.197427844A>TCA344037973CRB1c.2519A>T (p.Glu840Val)
c.1400A>T (p.Glu467Val)
c.662A>T (p.Glu221Val)
c.2183A>T (p.Glu728Val)
c.2312A>T (p.Glu771Val)
c.2128+5888A>T (n.2128+5888A>T)
n.2520A>T
n.2728A>T
c.1937A>T (p.Glu646Val)
c.962A>T (p.Glu321Val)
c.1676A>T (p.Glu559Val)
n.2472A>T
n.2680A>T
1g.197427845G>ACA422808876CRB1c.2520G>A (p.Glu840=)
c.1401G>A (p.Glu467=)
c.663G>A (p.Glu221=)
c.2184G>A (p.Glu728=)
c.2313G>A (p.Glu771=)
c.2128+5889G>A (n.2128+5889G>A)
n.2521G>A
n.2729G>A
c.1938G>A (p.Glu646=)
c.963G>A (p.Glu321=)
c.1677G>A (p.Glu559=)
n.2473G>A
n.2681G>A
 COSMIC COSMIC
1g.197427845G>CCA344037976CRB1c.2520G>C (p.Glu840Asp)
c.1401G>C (p.Glu467Asp)
c.663G>C (p.Glu221Asp)
c.2184G>C (p.Glu728Asp)
c.2313G>C (p.Glu771Asp)
c.2128+5889G>C (n.2128+5889G>C)
n.2521G>C
n.2729G>C
c.1938G>C (p.Glu646Asp)
c.963G>C (p.Glu321Asp)
c.1677G>C (p.Glu559Asp)
n.2473G>C
n.2681G>C
1g.197427845G>TCA344037978CRB1c.2520G>T (p.Glu840Asp)
c.1401G>T (p.Glu467Asp)
c.663G>T (p.Glu221Asp)
c.2184G>T (p.Glu728Asp)
c.2313G>T (p.Glu771Asp)
c.2128+5889G>T (n.2128+5889G>T)
n.2521G>T
n.2729G>T
c.1938G>T (p.Glu646Asp)
c.963G>T (p.Glu321Asp)
c.1677G>T (p.Glu559Asp)
n.2473G>T
n.2681G>T
1g.197427846A=CA1218066347CRB1c.2521A= (p.Thr841=)
c.1402A= (p.Thr468=)
c.664A= (p.Thr222=)
c.2185A= (p.Thr729=)
c.2314A= (p.Thr772=)
c.2128+5890A= (n.2128+5890A=)
n.2522A=
n.2730A=
c.1939A= (p.Thr647=)
c.964A= (p.Thr322=)
c.1678A= (p.Thr560=)
n.2474A=
n.2682A=
1g.197427846A>CCA344037981CRB1c.2521A>C (p.Thr841Pro)
c.1402A>C (p.Thr468Pro)
c.664A>C (p.Thr222Pro)
c.2185A>C (p.Thr729Pro)
c.2314A>C (p.Thr772Pro)
c.2128+5890A>C (n.2128+5890A>C)
n.2522A>C
n.2730A>C
c.1939A>C (p.Thr647Pro)
c.964A>C (p.Thr322Pro)
c.1678A>C (p.Thr560Pro)
n.2474A>C
n.2682A>C
 ClinVar dbSNP
1g.197427846A>GCA344037990CRB1c.2521A>G (p.Thr841Ala)
c.1402A>G (p.Thr468Ala)
c.664A>G (p.Thr222Ala)
c.2185A>G (p.Thr729Ala)
c.2314A>G (p.Thr772Ala)
c.2128+5890A>G (n.2128+5890A>G)
n.2522A>G
n.2730A>G
c.1939A>G (p.Thr647Ala)
c.964A>G (p.Thr322Ala)
c.1678A>G (p.Thr560Ala)
n.2474A>G
n.2682A>G
 dbSNP gnomAD v4
1g.197427846A>TCA35901004CRB1c.2521A>T (p.Thr841Ser)
c.1402A>T (p.Thr468Ser)
c.664A>T (p.Thr222Ser)
c.2185A>T (p.Thr729Ser)
c.2314A>T (p.Thr772Ser)
c.2128+5890A>T (n.2128+5890A>T)
n.2522A>T
n.2730A>T
c.1939A>T (p.Thr647Ser)
c.964A>T (p.Thr322Ser)
c.1678A>T (p.Thr560Ser)
n.2474A>T
n.2682A>T
 dbSNP
1g.197427847C>ACA344038001CRB1c.2522C>A (p.Thr841Asn)
c.1403C>A (p.Thr468Asn)
c.665C>A (p.Thr222Asn)
c.2186C>A (p.Thr729Asn)
c.2315C>A (p.Thr772Asn)
c.2128+5891C>A (n.2128+5891C>A)
n.2523C>A
n.2731C>A
c.1940C>A (p.Thr647Asn)
c.965C>A (p.Thr322Asn)
c.1679C>A (p.Thr560Asn)
n.2475C>A
n.2683C>A
1g.197427847C>GCA344038006CRB1c.2522C>G (p.Thr841Ser)
c.1403C>G (p.Thr468Ser)
c.665C>G (p.Thr222Ser)
c.2186C>G (p.Thr729Ser)
c.2315C>G (p.Thr772Ser)
c.2128+5891C>G (n.2128+5891C>G)
n.2523C>G
n.2731C>G
c.1940C>G (p.Thr647Ser)
c.965C>G (p.Thr322Ser)
c.1679C>G (p.Thr560Ser)
n.2475C>G
n.2683C>G
1g.197427847C>TCA344038011CRB1c.2522C>T (p.Thr841Ile)
c.1403C>T (p.Thr468Ile)
c.665C>T (p.Thr222Ile)
c.2186C>T (p.Thr729Ile)
c.2315C>T (p.Thr772Ile)
c.2128+5891C>T (n.2128+5891C>T)
n.2523C>T
n.2731C>T
c.1940C>T (p.Thr647Ile)
c.965C>T (p.Thr322Ile)
c.1679C>T (p.Thr560Ile)
n.2475C>T
n.2683C>T
 ClinVar dbSNP
1g.197427848T>ACA422808881CRB1c.2523T>A (p.Thr841=)
c.1404T>A (p.Thr468=)
c.666T>A (p.Thr222=)
c.2187T>A (p.Thr729=)
c.2316T>A (p.Thr772=)
c.2128+5892T>A (n.2128+5892T>A)
n.2524T>A
n.2732T>A
c.1941T>A (p.Thr647=)
c.966T>A (p.Thr322=)
c.1680T>A (p.Thr560=)
n.2476T>A
n.2684T>A
1g.197427848T>CCA422808882CRB1c.2523T>C (p.Thr841=)
c.1404T>C (p.Thr468=)
c.666T>C (p.Thr222=)
c.2187T>C (p.Thr729=)
c.2316T>C (p.Thr772=)
c.2128+5892T>C (n.2128+5892T>C)
n.2524T>C
n.2732T>C
c.1941T>C (p.Thr647=)
c.966T>C (p.Thr322=)
c.1680T>C (p.Thr560=)
n.2476T>C
n.2684T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197427848T>GCA422808883CRB1c.2523T>G (p.Thr841=)
c.1404T>G (p.Thr468=)
c.666T>G (p.Thr222=)
c.2187T>G (p.Thr729=)
c.2316T>G (p.Thr772=)
c.2128+5892T>G (n.2128+5892T>G)
n.2524T>G
n.2732T>G
c.1941T>G (p.Thr647=)
c.966T>G (p.Thr322=)
c.1680T>G (p.Thr560=)
n.2476T>G
n.2684T>G
1g.197427848T=CA1218066350CRB1c.2523T= (p.Thr841=)
c.1404T= (p.Thr468=)
c.666T= (p.Thr222=)
c.2187T= (p.Thr729=)
c.2316T= (p.Thr772=)
c.2128+5892T= (n.2128+5892T=)
n.2524T=
n.2732T=
c.1941T= (p.Thr647=)
c.966T= (p.Thr322=)
c.1680T= (p.Thr560=)
n.2476T=
n.2684T=
1g.197427849G>ACA344038014CRB1c.2524G>A (p.Glu842Lys)
c.1405G>A (p.Glu469Lys)
c.667G>A (p.Glu223Lys)
c.2188G>A (p.Glu730Lys)
c.2317G>A (p.Glu773Lys)
c.2128+5893G>A (n.2128+5893G>A)
n.2525G>A
n.2733G>A
c.1942G>A (p.Glu648Lys)
c.967G>A (p.Glu323Lys)
c.1681G>A (p.Glu561Lys)
n.2477G>A
n.2685G>A
 COSMIC COSMIC
1g.197427849G>CCA344038016CRB1c.2524G>C (p.Glu842Gln)
c.1405G>C (p.Glu469Gln)
c.667G>C (p.Glu223Gln)
c.2188G>C (p.Glu730Gln)
c.2317G>C (p.Glu773Gln)
c.2128+5893G>C (n.2128+5893G>C)
n.2525G>C
n.2733G>C
c.1942G>C (p.Glu648Gln)
c.967G>C (p.Glu323Gln)
c.1681G>C (p.Glu561Gln)
n.2477G>C
n.2685G>C
1g.197427849G>TCA344038019CRB1c.2524G>T (p.Glu842Ter)
c.1405G>T (p.Glu469Ter)
c.667G>T (p.Glu223Ter)
c.2188G>T (p.Glu730Ter)
c.2317G>T (p.Glu773Ter)
c.2128+5893G>T (n.2128+5893G>T)
n.2525G>T
n.2733G>T
c.1942G>T (p.Glu648Ter)
c.967G>T (p.Glu323Ter)
c.1681G>T (p.Glu561Ter)
n.2477G>T
n.2685G>T
1g.197427850A>CCA344038022CRB1c.2525A>C (p.Glu842Ala)
c.1406A>C (p.Glu469Ala)
c.668A>C (p.Glu223Ala)
c.2189A>C (p.Glu730Ala)
c.2318A>C (p.Glu773Ala)
c.2128+5894A>C (n.2128+5894A>C)
n.2526A>C
n.2734A>C
c.1943A>C (p.Glu648Ala)
c.968A>C (p.Glu323Ala)
c.1682A>C (p.Glu561Ala)
n.2478A>C
n.2686A>C
1g.197427850A>GCA344038024CRB1c.2525A>G (p.Glu842Gly)
c.1406A>G (p.Glu469Gly)
c.668A>G (p.Glu223Gly)
c.2189A>G (p.Glu730Gly)
c.2318A>G (p.Glu773Gly)
c.2128+5894A>G (n.2128+5894A>G)
n.2526A>G
n.2734A>G
c.1943A>G (p.Glu648Gly)
c.968A>G (p.Glu323Gly)
c.1682A>G (p.Glu561Gly)
n.2478A>G
n.2686A>G
1g.197427850A>TCA344038027CRB1c.2525A>T (p.Glu842Val)
c.1406A>T (p.Glu469Val)
c.668A>T (p.Glu223Val)
c.2189A>T (p.Glu730Val)
c.2318A>T (p.Glu773Val)
c.2128+5894A>T (n.2128+5894A>T)
n.2526A>T
n.2734A>T
c.1943A>T (p.Glu648Val)
c.968A>T (p.Glu323Val)
c.1682A>T (p.Glu561Val)
n.2478A>T
n.2686A>T
1g.197427851A>CCA344038030CRB1c.2526A>C (p.Glu842Asp)
c.1407A>C (p.Glu469Asp)
c.669A>C (p.Glu223Asp)
c.2190A>C (p.Glu730Asp)
c.2319A>C (p.Glu773Asp)
c.2128+5895A>C (n.2128+5895A>C)
n.2527A>C
n.2735A>C
c.1944A>C (p.Glu648Asp)
c.969A>C (p.Glu323Asp)
c.1683A>C (p.Glu561Asp)
n.2479A>C
n.2687A>C
1g.197427851A>GCA422808887CRB1c.2526A>G (p.Glu842=)
c.1407A>G (p.Glu469=)
c.669A>G (p.Glu223=)
c.2190A>G (p.Glu730=)
c.2319A>G (p.Glu773=)
c.2128+5895A>G (n.2128+5895A>G)
n.2527A>G
n.2735A>G
c.1944A>G (p.Glu648=)
c.969A>G (p.Glu323=)
c.1683A>G (p.Glu561=)
n.2479A>G
n.2687A>G
1g.197427851A>TCA344038034CRB1c.2526A>T (p.Glu842Asp)
c.1407A>T (p.Glu469Asp)
c.669A>T (p.Glu223Asp)
c.2190A>T (p.Glu730Asp)
c.2319A>T (p.Glu773Asp)
c.2128+5895A>T (n.2128+5895A>T)
n.2527A>T
n.2735A>T
c.1944A>T (p.Glu648Asp)
c.969A>T (p.Glu323Asp)
c.1683A>T (p.Glu561Asp)
n.2479A>T
n.2687A>T
1g.197427852_197427923delCA2580061831CRB1c.2527_2598del (p.Leu843_Pro866del)
c.1408_1479del (p.Leu470_Pro493del)
c.670_741del (p.Leu224_Pro247del)
c.2191_2262del (p.Leu731_Pro754del)
c.2320_2391del (p.Leu774_Pro797del)
c.2128+5896_2128+5967del (n.2128+5896_2128+5967del)
n.2528_2599del
n.2736_2807del
c.1945_2016del (p.Leu649_Pro672del)
c.970_1041del (p.Leu324_Pro347del)
c.1684_1755del (p.Leu562_Pro585del)
n.2480_2551del
n.2688_2759del
 ClinVar
1g.197427852C>ACA344038035CRB1c.2527C>A (p.Leu843Ile)
c.1408C>A (p.Leu470Ile)
c.670C>A (p.Leu224Ile)
c.2191C>A (p.Leu731Ile)
c.2320C>A (p.Leu774Ile)
c.2128+5896C>A (n.2128+5896C>A)
n.2528C>A
n.2736C>A
c.1945C>A (p.Leu649Ile)
c.970C>A (p.Leu324Ile)
c.1684C>A (p.Leu562Ile)
n.2480C>A
n.2688C>A
1g.197427852C=CA1218066351CRB1c.2527C= (p.Leu843=)
c.1408C= (p.Leu470=)
c.670C= (p.Leu224=)
c.2191C= (p.Leu731=)
c.2320C= (p.Leu774=)
c.2128+5896C= (n.2128+5896C=)
n.2528C=
n.2736C=
c.1945C= (p.Leu649=)
c.970C= (p.Leu324=)
c.1684C= (p.Leu562=)
n.2480C=
n.2688C=
1g.197427852C>GCA344038036CRB1c.2527C>G (p.Leu843Val)
c.1408C>G (p.Leu470Val)
c.670C>G (p.Leu224Val)
c.2191C>G (p.Leu731Val)
c.2320C>G (p.Leu774Val)
c.2128+5896C>G (n.2128+5896C>G)
n.2528C>G
n.2736C>G
c.1945C>G (p.Leu649Val)
c.970C>G (p.Leu324Val)
c.1684C>G (p.Leu562Val)
n.2480C>G
n.2688C>G
1g.197427852C>TCA1312131CRB1c.2527C>T (p.Leu843Phe)
c.1408C>T (p.Leu470Phe)
c.670C>T (p.Leu224Phe)
c.2191C>T (p.Leu731Phe)
c.2320C>T (p.Leu774Phe)
c.2128+5896C>T (n.2128+5896C>T)
n.2528C>T
n.2736C>T
c.1945C>T (p.Leu649Phe)
c.970C>T (p.Leu324Phe)
c.1684C>T (p.Leu562Phe)
n.2480C>T
n.2688C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427853T>ACA344038038CRB1c.2528T>A (p.Leu843His)
c.1409T>A (p.Leu470His)
c.671T>A (p.Leu224His)
c.2192T>A (p.Leu731His)
c.2321T>A (p.Leu774His)
c.2128+5897T>A (n.2128+5897T>A)
n.2529T>A
n.2737T>A
c.1946T>A (p.Leu649His)
c.971T>A (p.Leu324His)
c.1685T>A (p.Leu562His)
n.2481T>A
n.2689T>A
1g.197427853T>CCA344038040CRB1c.2528T>C (p.Leu843Pro)
c.1409T>C (p.Leu470Pro)
c.671T>C (p.Leu224Pro)
c.2192T>C (p.Leu731Pro)
c.2321T>C (p.Leu774Pro)
c.2128+5897T>C (n.2128+5897T>C)
n.2529T>C
n.2737T>C
c.1946T>C (p.Leu649Pro)
c.971T>C (p.Leu324Pro)
c.1685T>C (p.Leu562Pro)
n.2481T>C
n.2689T>C
1g.197427853T>GCA344038047CRB1c.2528T>G (p.Leu843Arg)
c.1409T>G (p.Leu470Arg)
c.671T>G (p.Leu224Arg)
c.2192T>G (p.Leu731Arg)
c.2321T>G (p.Leu774Arg)
c.2128+5897T>G (n.2128+5897T>G)
n.2529T>G
n.2737T>G
c.1946T>G (p.Leu649Arg)
c.971T>G (p.Leu324Arg)
c.1685T>G (p.Leu562Arg)
n.2481T>G
n.2689T>G
 COSMIC COSMIC
1g.197427854T>ACA422808890CRB1c.2529T>A (p.Leu843=)
c.1410T>A (p.Leu470=)
c.672T>A (p.Leu224=)
c.2193T>A (p.Leu731=)
c.2322T>A (p.Leu774=)
c.2128+5898T>A (n.2128+5898T>A)
n.2530T>A
n.2738T>A
c.1947T>A (p.Leu649=)
c.972T>A (p.Leu324=)
c.1686T>A (p.Leu562=)
n.2482T>A
n.2690T>A
1g.197427854T>CCA422808888CRB1c.2529T>C (p.Leu843=)
c.1410T>C (p.Leu470=)
c.672T>C (p.Leu224=)
c.2193T>C (p.Leu731=)
c.2322T>C (p.Leu774=)
c.2128+5898T>C (n.2128+5898T>C)
n.2530T>C
n.2738T>C
c.1947T>C (p.Leu649=)
c.972T>C (p.Leu324=)
c.1686T>C (p.Leu562=)
n.2482T>C
n.2690T>C
 dbSNP gnomAD v2 gnomAD v4
1g.197427854T>GCA422808889CRB1c.2529T>G (p.Leu843=)
c.1410T>G (p.Leu470=)
c.672T>G (p.Leu224=)
c.2193T>G (p.Leu731=)
c.2322T>G (p.Leu774=)
c.2128+5898T>G (n.2128+5898T>G)
n.2530T>G
n.2738T>G
c.1947T>G (p.Leu649=)
c.972T>G (p.Leu324=)
c.1686T>G (p.Leu562=)
n.2482T>G
n.2690T>G
1g.197427854T=CA1218066354CRB1c.2529T= (p.Leu843=)
c.1410T= (p.Leu470=)
c.672T= (p.Leu224=)
c.2193T= (p.Leu731=)
c.2322T= (p.Leu774=)
c.2128+5898T= (n.2128+5898T=)
n.2530T=
n.2738T=
c.1947T= (p.Leu649=)
c.972T= (p.Leu324=)
c.1686T= (p.Leu562=)
n.2482T=
n.2690T=
1g.197427855A>CCA344038051CRB1c.2530A>C (p.Asn844His)
c.1411A>C (p.Asn471His)
c.673A>C (p.Asn225His)
c.2194A>C (p.Asn732His)
c.2323A>C (p.Asn775His)
c.2128+5899A>C (n.2128+5899A>C)
n.2531A>C
n.2739A>C
c.1948A>C (p.Asn650His)
c.973A>C (p.Asn325His)
c.1687A>C (p.Asn563His)
n.2483A>C
n.2691A>C
1g.197427855A>GCA344038054CRB1c.2530A>G (p.Asn844Asp)
c.1411A>G (p.Asn471Asp)
c.673A>G (p.Asn225Asp)
c.2194A>G (p.Asn732Asp)
c.2323A>G (p.Asn775Asp)
c.2128+5899A>G (n.2128+5899A>G)
n.2531A>G
n.2739A>G
c.1948A>G (p.Asn650Asp)
c.973A>G (p.Asn325Asp)
c.1687A>G (p.Asn563Asp)
n.2483A>G
n.2691A>G
1g.197427855A>TCA344038055CRB1c.2530A>T (p.Asn844Tyr)
c.1411A>T (p.Asn471Tyr)
c.673A>T (p.Asn225Tyr)
c.2194A>T (p.Asn732Tyr)
c.2323A>T (p.Asn775Tyr)
c.2128+5899A>T (n.2128+5899A>T)
n.2531A>T
n.2739A>T
c.1948A>T (p.Asn650Tyr)
c.973A>T (p.Asn325Tyr)
c.1687A>T (p.Asn563Tyr)
n.2483A>T
n.2691A>T
1g.197427855_197427862delinsAATGGTGGCA1218066359CRB1c.2530_2537delinsAATGGTGG (p.Asn844=)
c.1411_1418delinsAATGGTGG (p.Asn471=)
c.673_680delinsAATGGTGG (p.Asn225=)
c.2194_2201delinsAATGGTGG (p.Asn732=)
c.2323_2330delinsAATGGTGG (p.Asn775=)
c.2128+5899_2128+5906delinsAATGGTGG (n.2128+5899_2128+5906delinsAATGGTGG)
n.2531_2538delinsAATGGTGG
n.2739_2746delinsAATGGTGG
c.1948_1955delinsAATGGTGG (p.Asn650=)
c.973_980delinsAATGGTGG (p.Asn325=)
c.1687_1694delinsAATGGTGG (p.Asn563=)
n.2483_2490delinsAATGGTGG
n.2691_2698delinsAATGGTGG
1g.197427856A>CCA344038059CRB1c.2531A>C (p.Asn844Thr)
c.1412A>C (p.Asn471Thr)
c.674A>C (p.Asn225Thr)
c.2195A>C (p.Asn732Thr)
c.2324A>C (p.Asn775Thr)
c.2128+5900A>C (n.2128+5900A>C)
n.2532A>C
n.2740A>C
c.1949A>C (p.Asn650Thr)
c.974A>C (p.Asn325Thr)
c.1688A>C (p.Asn563Thr)
n.2484A>C
n.2692A>C
1g.197427856A>GCA344038064CRB1c.2531A>G (p.Asn844Ser)
c.1412A>G (p.Asn471Ser)
c.674A>G (p.Asn225Ser)
c.2195A>G (p.Asn732Ser)
c.2324A>G (p.Asn775Ser)
c.2128+5900A>G (n.2128+5900A>G)
n.2532A>G
n.2740A>G
c.1949A>G (p.Asn650Ser)
c.974A>G (p.Asn325Ser)
c.1688A>G (p.Asn563Ser)
n.2484A>G
n.2692A>G
 gnomAD v4
1g.197427856A>TCA344038065CRB1c.2531A>T (p.Asn844Ile)
c.1412A>T (p.Asn471Ile)
c.674A>T (p.Asn225Ile)
c.2195A>T (p.Asn732Ile)
c.2324A>T (p.Asn775Ile)
c.2128+5900A>T (n.2128+5900A>T)
n.2532A>T
n.2740A>T
c.1949A>T (p.Asn650Ile)
c.974A>T (p.Asn325Ile)
c.1688A>T (p.Asn563Ile)
n.2484A>T
n.2692A>T
1g.197427856_197427864delinsATGGTGGATCA1148228981CRB1c.2531_2539delinsATGGTGGAT (p.Asn844=)
c.1412_1420delinsATGGTGGAT (p.Asn471=)
c.674_682delinsATGGTGGAT (p.Asn225=)
c.2195_2203delinsATGGTGGAT (p.Asn732=)
c.2324_2332delinsATGGTGGAT (p.Asn775=)
c.2128+5900_2128+5908delinsATGGTGGAT (n.2128+5900_2128+5908delinsATGGTGGAT)
n.2532_2540delinsATGGTGGAT
n.2740_2748delinsATGGTGGAT
c.1949_1957delinsATGGTGGAT (p.Asn650=)
c.974_982delinsATGGTGGAT (p.Asn325=)
c.1688_1696delinsATGGTGGAT (p.Asn563=)
n.2484_2492delinsATGGTGGAT
n.2692_2700delinsATGGTGGAT
1g.197427858_197427864delCA1312132CRB1c.2533_2539del (p.Gly845SerfsTer9)
c.1414_1420del (p.Gly472SerfsTer9)
c.676_682del (p.Gly226SerfsTer9)
c.2197_2203del (p.Gly733SerfsTer9)
c.2326_2332del (p.Gly776SerfsTer9)
c.2128+5902_2128+5908del (n.2128+5902_2128+5908del)
n.2534_2540del
n.2742_2748del
c.1951_1957del (p.Gly651SerfsTer9)
c.976_982del (p.Gly326SerfsTer9)
c.1690_1696del (p.Gly564SerfsTer9)
n.2486_2492del
n.2694_2700del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427857T>ACA344038075CRB1c.2532T>A (p.Asn844Lys)
c.1413T>A (p.Asn471Lys)
c.675T>A (p.Asn225Lys)
c.2196T>A (p.Asn732Lys)
c.2325T>A (p.Asn775Lys)
c.2128+5901T>A (n.2128+5901T>A)
n.2533T>A
n.2741T>A
c.1950T>A (p.Asn650Lys)
c.975T>A (p.Asn325Lys)
c.1689T>A (p.Asn563Lys)
n.2485T>A
n.2693T>A
1g.197427857T>CCA422808895CRB1c.2532T>C (p.Asn844=)
c.1413T>C (p.Asn471=)
c.675T>C (p.Asn225=)
c.2196T>C (p.Asn732=)
c.2325T>C (p.Asn775=)
c.2128+5901T>C (n.2128+5901T>C)
n.2533T>C
n.2741T>C
c.1950T>C (p.Asn650=)
c.975T>C (p.Asn325=)
c.1689T>C (p.Asn563=)
n.2485T>C
n.2693T>C
 dbSNP gnomAD v4
1g.197427857T>GCA344038071CRB1c.2532T>G (p.Asn844Lys)
c.1413T>G (p.Asn471Lys)
c.675T>G (p.Asn225Lys)
c.2196T>G (p.Asn732Lys)
c.2325T>G (p.Asn775Lys)
c.2128+5901T>G (n.2128+5901T>G)
n.2533T>G
n.2741T>G
c.1950T>G (p.Asn650Lys)
c.975T>G (p.Asn325Lys)
c.1689T>G (p.Asn563Lys)
n.2485T>G
n.2693T>G
1g.197427857T=CA1218066368CRB1c.2532T= (p.Asn844=)
c.1413T= (p.Asn471=)
c.675T= (p.Asn225=)
c.2196T= (p.Asn732=)
c.2325T= (p.Asn775=)
c.2128+5901T= (n.2128+5901T=)
n.2533T=
n.2741T=
c.1950T= (p.Asn650=)
c.975T= (p.Asn325=)
c.1689T= (p.Asn563=)
n.2485T=
n.2693T=
1g.197427858G>ACA344038077CRB1c.2533G>A (p.Gly845Ser)
c.1414G>A (p.Gly472Ser)
c.676G>A (p.Gly226Ser)
c.2197G>A (p.Gly733Ser)
c.2326G>A (p.Gly776Ser)
c.2128+5902G>A (n.2128+5902G>A)
n.2534G>A
n.2742G>A
c.1951G>A (p.Gly651Ser)
c.976G>A (p.Gly326Ser)
c.1690G>A (p.Gly564Ser)
n.2486G>A
n.2694G>A
 COSMIC
1g.197427858G>CCA344038079CRB1c.2533G>C (p.Gly845Arg)
c.1414G>C (p.Gly472Arg)
c.676G>C (p.Gly226Arg)
c.2197G>C (p.Gly733Arg)
c.2326G>C (p.Gly776Arg)
c.2128+5902G>C (n.2128+5902G>C)
n.2534G>C
n.2742G>C
c.1951G>C (p.Gly651Arg)
c.976G>C (p.Gly326Arg)
c.1690G>C (p.Gly564Arg)
n.2486G>C
n.2694G>C
1g.197427858G=CA1218066370CRB1c.2533G= (p.Gly845=)
c.1414G= (p.Gly472=)
c.676G= (p.Gly226=)
c.2197G= (p.Gly733=)
c.2326G= (p.Gly776=)
c.2128+5902G= (n.2128+5902G=)
n.2534G=
n.2742G=
c.1951G= (p.Gly651=)
c.976G= (p.Gly326=)
c.1690G= (p.Gly564=)
n.2486G=
n.2694G=
1g.197427858G>TCA344038081CRB1c.2533G>T (p.Gly845Cys)
c.1414G>T (p.Gly472Cys)
c.676G>T (p.Gly226Cys)
c.2197G>T (p.Gly733Cys)
c.2326G>T (p.Gly776Cys)
c.2128+5902G>T (n.2128+5902G>T)
n.2534G>T
n.2742G>T
c.1951G>T (p.Gly651Cys)
c.976G>T (p.Gly326Cys)
c.1690G>T (p.Gly564Cys)
n.2486G>T
n.2694G>T
 dbSNP gnomAD v2 gnomAD v4
1g.197427858_197427870delCA2586964524CRB1c.2533_2545del (p.Gly845LysfsTer7)
c.1414_1426del (p.Gly472LysfsTer7)
c.676_688del (p.Gly226LysfsTer7)
c.2197_2209del (p.Gly733LysfsTer7)
c.2326_2338del (p.Gly776LysfsTer7)
c.2128+5902_2128+5914del (n.2128+5902_2128+5914del)
n.2534_2546del
n.2742_2754del
c.1951_1963del (p.Gly651LysfsTer7)
c.976_988del (p.Gly326LysfsTer7)
c.1690_1702del (p.Gly564LysfsTer7)
n.2486_2498del
n.2694_2706del
1g.197427859G>ACA35901043CRB1c.2534G>A (p.Gly845Asp)
c.1415G>A (p.Gly472Asp)
c.677G>A (p.Gly226Asp)
c.2198G>A (p.Gly733Asp)
c.2327G>A (p.Gly776Asp)
c.2128+5903G>A (n.2128+5903G>A)
n.2535G>A
n.2743G>A
c.1952G>A (p.Gly651Asp)
c.977G>A (p.Gly326Asp)
c.1691G>A (p.Gly564Asp)
n.2487G>A
n.2695G>A
 dbSNP gnomAD v4
1g.197427859G>CCA344038091CRB1c.2534G>C (p.Gly845Ala)
c.1415G>C (p.Gly472Ala)
c.677G>C (p.Gly226Ala)
c.2198G>C (p.Gly733Ala)
c.2327G>C (p.Gly776Ala)
c.2128+5903G>C (n.2128+5903G>C)
n.2535G>C
n.2743G>C
c.1952G>C (p.Gly651Ala)
c.977G>C (p.Gly326Ala)
c.1691G>C (p.Gly564Ala)
n.2487G>C
n.2695G>C
 dbSNP
1g.197427859G=CA1218066372CRB1c.2534G= (p.Gly845=)
c.1415G= (p.Gly472=)
c.677G= (p.Gly226=)
c.2198G= (p.Gly733=)
c.2327G= (p.Gly776=)
c.2128+5903G= (n.2128+5903G=)
n.2535G=
n.2743G=
c.1952G= (p.Gly651=)
c.977G= (p.Gly326=)
c.1691G= (p.Gly564=)
n.2487G=
n.2695G=
1g.197427859G>TCA344038092CRB1c.2534G>T (p.Gly845Val)
c.1415G>T (p.Gly472Val)
c.677G>T (p.Gly226Val)
c.2198G>T (p.Gly733Val)
c.2327G>T (p.Gly776Val)
c.2128+5903G>T (n.2128+5903G>T)
n.2535G>T
n.2743G>T
c.1952G>T (p.Gly651Val)
c.977G>T (p.Gly326Val)
c.1691G>T (p.Gly564Val)
n.2487G>T
n.2695G>T
1g.197427860T>ACA422808898CRB1c.2535T>A (p.Gly845=)
c.1416T>A (p.Gly472=)
c.678T>A (p.Gly226=)
c.2199T>A (p.Gly733=)
c.2328T>A (p.Gly776=)
c.2128+5904T>A (n.2128+5904T>A)
n.2536T>A
n.2744T>A
c.1953T>A (p.Gly651=)
c.978T>A (p.Gly326=)
c.1692T>A (p.Gly564=)
n.2488T>A
n.2696T>A
1g.197427860T>CCA1312133CRB1c.2535T>C (p.Gly845=)
c.1416T>C (p.Gly472=)
c.678T>C (p.Gly226=)
c.2199T>C (p.Gly733=)
c.2328T>C (p.Gly776=)
c.2128+5904T>C (n.2128+5904T>C)
n.2536T>C
n.2744T>C
c.1953T>C (p.Gly651=)
c.978T>C (p.Gly326=)
c.1692T>C (p.Gly564=)
n.2488T>C
n.2696T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427860T>GCA422808899CRB1c.2535T>G (p.Gly845=)
c.1416T>G (p.Gly472=)
c.678T>G (p.Gly226=)
c.2199T>G (p.Gly733=)
c.2328T>G (p.Gly776=)
c.2128+5904T>G (n.2128+5904T>G)
n.2536T>G
n.2744T>G
c.1953T>G (p.Gly651=)
c.978T>G (p.Gly326=)
c.1692T>G (p.Gly564=)
n.2488T>G
n.2696T>G
1g.197427860T=CA1218066375CRB1c.2535T= (p.Gly845=)
c.1416T= (p.Gly472=)
c.678T= (p.Gly226=)
c.2199T= (p.Gly733=)
c.2328T= (p.Gly776=)
c.2128+5904T= (n.2128+5904T=)
n.2536T=
n.2744T=
c.1953T= (p.Gly651=)
c.978T= (p.Gly326=)
c.1692T= (p.Gly564=)
n.2488T=
n.2696T=
1g.197427861_197427867delCA2586964525CRB1c.2536_2542del (p.Gly846SerfsTer8)
c.1417_1423del (p.Gly473SerfsTer8)
c.679_685del (p.Gly227SerfsTer8)
c.2200_2206del (p.Gly734SerfsTer8)
c.2329_2335del (p.Gly777SerfsTer8)
c.2128+5905_2128+5911del (n.2128+5905_2128+5911del)
n.2537_2543del
n.2745_2751del
c.1954_1960del (p.Gly652SerfsTer8)
c.979_985del (p.Gly327SerfsTer8)
c.1693_1699del (p.Gly565SerfsTer8)
n.2489_2495del
n.2697_2703del
1g.197427861G>ACA1312134CRB1c.2536G>A (p.Gly846Arg)
c.1417G>A (p.Gly473Arg)
c.679G>A (p.Gly227Arg)
c.2200G>A (p.Gly734Arg)
c.2329G>A (p.Gly777Arg)
c.2128+5905G>A (n.2128+5905G>A)
n.2537G>A
n.2745G>A
c.1954G>A (p.Gly652Arg)
c.979G>A (p.Gly327Arg)
c.1693G>A (p.Gly565Arg)
n.2489G>A
n.2697G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427861G>CCA344038102CRB1c.2536G>C (p.Gly846Arg)
c.1417G>C (p.Gly473Arg)
c.679G>C (p.Gly227Arg)
c.2200G>C (p.Gly734Arg)
c.2329G>C (p.Gly777Arg)
c.2128+5905G>C (n.2128+5905G>C)
n.2537G>C
n.2745G>C
c.1954G>C (p.Gly652Arg)
c.979G>C (p.Gly327Arg)
c.1693G>C (p.Gly565Arg)
n.2489G>C
n.2697G>C
1g.197427861G=CA1145144645CRB1c.2536G= (p.Gly846=)
c.1417G= (p.Gly473=)
c.679G= (p.Gly227=)
c.2200G= (p.Gly734=)
c.2329G= (p.Gly777=)
c.2128+5905G= (n.2128+5905G=)
n.2537G=
n.2745G=
c.1954G= (p.Gly652=)
c.979G= (p.Gly327=)
c.1693G= (p.Gly565=)
n.2489G=
n.2697G=
1g.197427861G>TCA344038108CRB1c.2536G>T (p.Gly846Ter)
c.1417G>T (p.Gly473Ter)
c.679G>T (p.Gly227Ter)
c.2200G>T (p.Gly734Ter)
c.2329G>T (p.Gly777Ter)
c.2128+5905G>T (n.2128+5905G>T)
n.2537G>T
n.2745G>T
c.1954G>T (p.Gly652Ter)
c.979G>T (p.Gly327Ter)
c.1693G>T (p.Gly565Ter)
n.2489G>T
n.2697G>T
 ClinVar
1g.197427862G>ACA1312135CRB1c.2537G>A (p.Gly846Glu)
c.1418G>A (p.Gly473Glu)
c.680G>A (p.Gly227Glu)
c.2201G>A (p.Gly734Glu)
c.2330G>A (p.Gly777Glu)
c.2128+5906G>A (n.2128+5906G>A)
n.2538G>A
n.2746G>A
c.1955G>A (p.Gly652Glu)
c.980G>A (p.Gly327Glu)
c.1694G>A (p.Gly565Glu)
n.2490G>A
n.2698G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427862G>CCA344038116CRB1c.2537G>C (p.Gly846Ala)
c.1418G>C (p.Gly473Ala)
c.680G>C (p.Gly227Ala)
c.2201G>C (p.Gly734Ala)
c.2330G>C (p.Gly777Ala)
c.2128+5906G>C (n.2128+5906G>C)
n.2538G>C
n.2746G>C
c.1955G>C (p.Gly652Ala)
c.980G>C (p.Gly327Ala)
c.1694G>C (p.Gly565Ala)
n.2490G>C
n.2698G>C
 COSMIC
1g.197427862G=CA1218066378CRB1c.2537G= (p.Gly846=)
c.1418G= (p.Gly473=)
c.680G= (p.Gly227=)
c.2201G= (p.Gly734=)
c.2330G= (p.Gly777=)
c.2128+5906G= (n.2128+5906G=)
n.2538G=
n.2746G=
c.1955G= (p.Gly652=)
c.980G= (p.Gly327=)
c.1694G= (p.Gly565=)
n.2490G=
n.2698G=
1g.197427862G>TCA344038118CRB1c.2537G>T (p.Gly846Val)
c.1418G>T (p.Gly473Val)
c.680G>T (p.Gly227Val)
c.2201G>T (p.Gly734Val)
c.2330G>T (p.Gly777Val)
c.2128+5906G>T (n.2128+5906G>T)
n.2538G>T
n.2746G>T
c.1955G>T (p.Gly652Val)
c.980G>T (p.Gly327Val)
c.1694G>T (p.Gly565Val)
n.2490G>T
n.2698G>T
 gnomAD v4
1g.197427863A=CA1141655576CRB1c.2538A= (p.Gly846=)
c.1419A= (p.Gly473=)
c.681A= (p.Gly227=)
c.2202A= (p.Gly734=)
c.2331A= (p.Gly777=)
c.2128+5907A= (n.2128+5907A=)
n.2539A=
n.2747A=
c.1956A= (p.Gly652=)
c.981A= (p.Gly327=)
c.1695A= (p.Gly565=)
n.2491A=
n.2699A=
1g.197427863A>CCA422808900CRB1c.2538A>C (p.Gly846=)
c.1419A>C (p.Gly473=)
c.681A>C (p.Gly227=)
c.2202A>C (p.Gly734=)
c.2331A>C (p.Gly777=)
c.2128+5907A>C (n.2128+5907A>C)
n.2539A>C
n.2747A>C
c.1956A>C (p.Gly652=)
c.981A>C (p.Gly327=)
c.1695A>C (p.Gly565=)
n.2491A>C
n.2699A>C
1g.197427863A>GCA422808901CRB1c.2538A>G (p.Gly846=)
c.1419A>G (p.Gly473=)
c.681A>G (p.Gly227=)
c.2202A>G (p.Gly734=)
c.2331A>G (p.Gly777=)
c.2128+5907A>G (n.2128+5907A>G)
n.2539A>G
n.2747A>G
c.1956A>G (p.Gly652=)
c.981A>G (p.Gly327=)
c.1695A>G (p.Gly565=)
n.2491A>G
n.2699A>G
1g.197427863A>TCA1312136CRB1c.2538A>T (p.Gly846=)
c.1419A>T (p.Gly473=)
c.681A>T (p.Gly227=)
c.2202A>T (p.Gly734=)
c.2331A>T (p.Gly777=)
c.2128+5907A>T (n.2128+5907A>T)
n.2539A>T
n.2747A>T
c.1956A>T (p.Gly652=)
c.981A>T (p.Gly327=)
c.1695A>T (p.Gly565=)
n.2491A>T
n.2699A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427864T>ACA344038125CRB1c.2539T>A (p.Phe847Ile)
c.1420T>A (p.Phe474Ile)
c.682T>A (p.Phe228Ile)
c.2203T>A (p.Phe735Ile)
c.2332T>A (p.Phe778Ile)
c.2128+5908T>A (n.2128+5908T>A)
n.2540T>A
n.2748T>A
c.1957T>A (p.Phe653Ile)
c.982T>A (p.Phe328Ile)
c.1696T>A (p.Phe566Ile)
n.2492T>A
n.2700T>A
1g.197427864T>CCA344038124CRB1c.2539T>C (p.Phe847Leu)
c.1420T>C (p.Phe474Leu)
c.682T>C (p.Phe228Leu)
c.2203T>C (p.Phe735Leu)
c.2332T>C (p.Phe778Leu)
c.2128+5908T>C (n.2128+5908T>C)
n.2540T>C
n.2748T>C
c.1957T>C (p.Phe653Leu)
c.982T>C (p.Phe328Leu)
c.1696T>C (p.Phe566Leu)
n.2492T>C
n.2700T>C
1g.197427864T>GCA344038126CRB1c.2539T>G (p.Phe847Val)
c.1420T>G (p.Phe474Val)
c.682T>G (p.Phe228Val)
c.2203T>G (p.Phe735Val)
c.2332T>G (p.Phe778Val)
c.2128+5908T>G (n.2128+5908T>G)
n.2540T>G
n.2748T>G
c.1957T>G (p.Phe653Val)
c.982T>G (p.Phe328Val)
c.1696T>G (p.Phe566Val)
n.2492T>G
n.2700T>G
1g.197427865T>ACA344038127CRB1c.2540T>A (p.Phe847Tyr)
c.1421T>A (p.Phe474Tyr)
c.683T>A (p.Phe228Tyr)
c.2204T>A (p.Phe735Tyr)
c.2333T>A (p.Phe778Tyr)
c.2128+5909T>A (n.2128+5909T>A)
n.2541T>A
n.2749T>A
c.1958T>A (p.Phe653Tyr)
c.983T>A (p.Phe328Tyr)
c.1697T>A (p.Phe566Tyr)
n.2493T>A
n.2701T>A
 dbSNP
1g.197427865T>CCA35901083CRB1c.2540T>C (p.Phe847Ser)
c.1421T>C (p.Phe474Ser)
c.683T>C (p.Phe228Ser)
c.2204T>C (p.Phe735Ser)
c.2333T>C (p.Phe778Ser)
c.2128+5909T>C (n.2128+5909T>C)
n.2541T>C
n.2749T>C
c.1958T>C (p.Phe653Ser)
c.983T>C (p.Phe328Ser)
c.1697T>C (p.Phe566Ser)
n.2493T>C
n.2701T>C
 ClinVar dbSNP gnomAD v4
1g.197427865T>GCA344038129CRB1c.2540T>G (p.Phe847Cys)
c.1421T>G (p.Phe474Cys)
c.683T>G (p.Phe228Cys)
c.2204T>G (p.Phe735Cys)
c.2333T>G (p.Phe778Cys)
c.2128+5909T>G (n.2128+5909T>G)
n.2541T>G
n.2749T>G
c.1958T>G (p.Phe653Cys)
c.983T>G (p.Phe328Cys)
c.1697T>G (p.Phe566Cys)
n.2493T>G
n.2701T>G
1g.197427865T=CA1218066384CRB1c.2540T= (p.Phe847=)
c.1421T= (p.Phe474=)
c.683T= (p.Phe228=)
c.2204T= (p.Phe735=)
c.2333T= (p.Phe778=)
c.2128+5909T= (n.2128+5909T=)
n.2541T=
n.2749T=
c.1958T= (p.Phe653=)
c.983T= (p.Phe328=)
c.1697T= (p.Phe566=)
n.2493T=
n.2701T=
1g.197427866_197427867delCA2573131446CRB1c.2541_2542del (p.Phe848GlnfsTer?)
c.1422_1423del (p.Phe475GlnfsTer?)
c.684_685del (p.Phe229GlnfsTer?)
c.2205_2206del (p.Phe736GlnfsTer?)
c.2334_2335del (p.Phe779GlnfsTer?)
c.2128+5910_2128+5911del (n.2128+5910_2128+5911del)
n.2542_2543del
n.2750_2751del
c.1959_1960del (p.Phe654GlnfsTer?)
c.984_985del (p.Phe329GlnfsTer?)
c.1698_1699del (p.Phe567GlnfsTer?)
n.2494_2495del
n.2702_2703del
 ClinVar dbSNP
1g.197427866C>ACA344038131CRB1c.2541C>A (p.Phe847Leu)
c.1422C>A (p.Phe474Leu)
c.684C>A (p.Phe228Leu)
c.2205C>A (p.Phe735Leu)
c.2334C>A (p.Phe778Leu)
c.2128+5910C>A (n.2128+5910C>A)
n.2542C>A
n.2750C>A
c.1959C>A (p.Phe653Leu)
c.984C>A (p.Phe328Leu)
c.1698C>A (p.Phe566Leu)
n.2494C>A
n.2702C>A
1g.197427866C=CA1218066387CRB1c.2541C= (p.Phe847=)
c.1422C= (p.Phe474=)
c.684C= (p.Phe228=)
c.2205C= (p.Phe735=)
c.2334C= (p.Phe778=)
c.2128+5910C= (n.2128+5910C=)
n.2542C=
n.2750C=
c.1959C= (p.Phe653=)
c.984C= (p.Phe328=)
c.1698C= (p.Phe566=)
n.2494C=
n.2702C=
1g.197427866C>GCA344038133CRB1c.2541C>G (p.Phe847Leu)
c.1422C>G (p.Phe474Leu)
c.684C>G (p.Phe228Leu)
c.2205C>G (p.Phe735Leu)
c.2334C>G (p.Phe778Leu)
c.2128+5910C>G (n.2128+5910C>G)
n.2542C>G
n.2750C>G
c.1959C>G (p.Phe653Leu)
c.984C>G (p.Phe328Leu)
c.1698C>G (p.Phe566Leu)
n.2494C>G
n.2702C>G
1g.197427866C>TCA422808905CRB1c.2541C>T (p.Phe847=)
c.1422C>T (p.Phe474=)
c.684C>T (p.Phe228=)
c.2205C>T (p.Phe735=)
c.2334C>T (p.Phe778=)
c.2128+5910C>T (n.2128+5910C>T)
n.2542C>T
n.2750C>T
c.1959C>T (p.Phe653=)
c.984C>T (p.Phe328=)
c.1698C>T (p.Phe566=)
n.2494C>T
n.2702C>T
 ClinVar dbSNP gnomAD v4
1g.197427867T>ACA344038141CRB1c.2542T>A (p.Phe848Ile)
c.1423T>A (p.Phe475Ile)
c.685T>A (p.Phe229Ile)
c.2206T>A (p.Phe736Ile)
c.2335T>A (p.Phe779Ile)
c.2128+5911T>A (n.2128+5911T>A)
n.2543T>A
n.2751T>A
c.1960T>A (p.Phe654Ile)
c.985T>A (p.Phe329Ile)
c.1699T>A (p.Phe567Ile)
n.2495T>A
n.2703T>A
1g.197427867T>CCA344038139CRB1c.2542T>C (p.Phe848Leu)
c.1423T>C (p.Phe475Leu)
c.685T>C (p.Phe229Leu)
c.2206T>C (p.Phe736Leu)
c.2335T>C (p.Phe779Leu)
c.2128+5911T>C (n.2128+5911T>C)
n.2543T>C
n.2751T>C
c.1960T>C (p.Phe654Leu)
c.985T>C (p.Phe329Leu)
c.1699T>C (p.Phe567Leu)
n.2495T>C
n.2703T>C
 gnomAD v4
1g.197427867T>GCA344038136CRB1c.2542T>G (p.Phe848Val)
c.1423T>G (p.Phe475Val)
c.685T>G (p.Phe229Val)
c.2206T>G (p.Phe736Val)
c.2335T>G (p.Phe779Val)
c.2128+5911T>G (n.2128+5911T>G)
n.2543T>G
n.2751T>G
c.1960T>G (p.Phe654Val)
c.985T>G (p.Phe329Val)
c.1699T>G (p.Phe567Val)
n.2495T>G
n.2703T>G
1g.197427868delCA2740090300CRB1c.2543del (p.Phe848SerfsTer8)
c.1424del (p.Phe475SerfsTer8)
c.686del (p.Phe229SerfsTer8)
c.2207del (p.Phe736SerfsTer8)
c.2336del (p.Phe779SerfsTer8)
c.2128+5912del (n.2128+5912del)
n.2544del
n.2752del
c.1961del (p.Phe654SerfsTer8)
c.986del (p.Phe329SerfsTer8)
c.1700del (p.Phe567SerfsTer8)
n.2496del
n.2704del
 ClinVar
1g.197427868T>ACA344038146CRB1c.2543T>A (p.Phe848Tyr)
c.1424T>A (p.Phe475Tyr)
c.686T>A (p.Phe229Tyr)
c.2207T>A (p.Phe736Tyr)
c.2336T>A (p.Phe779Tyr)
c.2128+5912T>A (n.2128+5912T>A)
n.2544T>A
n.2752T>A
c.1961T>A (p.Phe654Tyr)
c.986T>A (p.Phe329Tyr)
c.1700T>A (p.Phe567Tyr)
n.2496T>A
n.2704T>A
1g.197427868T>CCA344038148CRB1c.2543T>C (p.Phe848Ser)
c.1424T>C (p.Phe475Ser)
c.686T>C (p.Phe229Ser)
c.2207T>C (p.Phe736Ser)
c.2336T>C (p.Phe779Ser)
c.2128+5912T>C (n.2128+5912T>C)
n.2544T>C
n.2752T>C
c.1961T>C (p.Phe654Ser)
c.986T>C (p.Phe329Ser)
c.1700T>C (p.Phe567Ser)
n.2496T>C
n.2704T>C
1g.197427868T>GCA344038153CRB1c.2543T>G (p.Phe848Cys)
c.1424T>G (p.Phe475Cys)
c.686T>G (p.Phe229Cys)
c.2207T>G (p.Phe736Cys)
c.2336T>G (p.Phe779Cys)
c.2128+5912T>G (n.2128+5912T>G)
n.2544T>G
n.2752T>G
c.1961T>G (p.Phe654Cys)
c.986T>G (p.Phe329Cys)
c.1700T>G (p.Phe567Cys)
n.2496T>G
n.2704T>G
1g.197427869C>ACA344038162CRB1c.2544C>A (p.Phe848Leu)
c.1425C>A (p.Phe475Leu)
c.687C>A (p.Phe229Leu)
c.2208C>A (p.Phe736Leu)
c.2337C>A (p.Phe779Leu)
c.2128+5913C>A (n.2128+5913C>A)
n.2545C>A
n.2753C>A
c.1962C>A (p.Phe654Leu)
c.987C>A (p.Phe329Leu)
c.1701C>A (p.Phe567Leu)
n.2497C>A
n.2705C>A
1g.197427869C=CA1218066390CRB1c.2544C= (p.Phe848=)
c.1425C= (p.Phe475=)
c.687C= (p.Phe229=)
c.2208C= (p.Phe736=)
c.2337C= (p.Phe779=)
c.2128+5913C= (n.2128+5913C=)
n.2545C=
n.2753C=
c.1962C= (p.Phe654=)
c.987C= (p.Phe329=)
c.1701C= (p.Phe567=)
n.2497C=
n.2705C=
1g.197427869C>GCA344038163CRB1c.2544C>G (p.Phe848Leu)
c.1425C>G (p.Phe475Leu)
c.687C>G (p.Phe229Leu)
c.2208C>G (p.Phe736Leu)
c.2337C>G (p.Phe779Leu)
c.2128+5913C>G (n.2128+5913C>G)
n.2545C>G
n.2753C>G
c.1962C>G (p.Phe654Leu)
c.987C>G (p.Phe329Leu)
c.1701C>G (p.Phe567Leu)
n.2497C>G
n.2705C>G
1g.197427869C>TCA1312137CRB1c.2544C>T (p.Phe848=)
c.1425C>T (p.Phe475=)
c.687C>T (p.Phe229=)
c.2208C>T (p.Phe736=)
c.2337C>T (p.Phe779=)
c.2128+5913C>T (n.2128+5913C>T)
n.2545C>T
n.2753C>T
c.1962C>T (p.Phe654=)
c.987C>T (p.Phe329=)
c.1701C>T (p.Phe567=)
n.2497C>T
n.2705C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197427870A>CCA344038167CRB1c.2545A>C (p.Lys849Gln)
c.1426A>C (p.Lys476Gln)
c.688A>C (p.Lys230Gln)
c.2209A>C (p.Lys737Gln)
c.2338A>C (p.Lys780Gln)
c.2128+5914A>C (n.2128+5914A>C)
n.2546A>C
n.2754A>C
c.1963A>C (p.Lys655Gln)
c.988A>C (p.Lys330Gln)
c.1702A>C (p.Lys568Gln)
n.2498A>C
n.2706A>C
1g.197427870A>GCA344038165CRB1c.2545A>G (p.Lys849Glu)
c.1426A>G (p.Lys476Glu)
c.688A>G (p.Lys230Glu)
c.2209A>G (p.Lys737Glu)
c.2338A>G (p.Lys780Glu)
c.2128+5914A>G (n.2128+5914A>G)
n.2546A>G
n.2754A>G
c.1963A>G (p.Lys655Glu)
c.988A>G (p.Lys330Glu)
c.1702A>G (p.Lys568Glu)
n.2498A>G
n.2706A>G
1g.197427870A>TCA344038166CRB1c.2545A>T (p.Lys849Ter)
c.1426A>T (p.Lys476Ter)
c.688A>T (p.Lys230Ter)
c.2209A>T (p.Lys737Ter)
c.2338A>T (p.Lys780Ter)
c.2128+5914A>T (n.2128+5914A>T)
n.2546A>T
n.2754A>T
c.1963A>T (p.Lys655Ter)
c.988A>T (p.Lys330Ter)
c.1702A>T (p.Lys568Ter)
n.2498A>T
n.2706A>T
1g.197427871A>CCA344038168CRB1c.2546A>C (p.Lys849Thr)
c.1427A>C (p.Lys476Thr)
c.689A>C (p.Lys230Thr)
c.2210A>C (p.Lys737Thr)
c.2339A>C (p.Lys780Thr)
c.2128+5915A>C (n.2128+5915A>C)
n.2547A>C
n.2755A>C
c.1964A>C (p.Lys655Thr)
c.989A>C (p.Lys330Thr)
c.1703A>C (p.Lys568Thr)
n.2499A>C
n.2707A>C
1g.197427871A>GCA344038171CRB1c.2546A>G (p.Lys849Arg)
c.1427A>G (p.Lys476Arg)
c.689A>G (p.Lys230Arg)
c.2210A>G (p.Lys737Arg)
c.2339A>G (p.Lys780Arg)
c.2128+5915A>G (n.2128+5915A>G)
n.2547A>G
n.2755A>G
c.1964A>G (p.Lys655Arg)
c.989A>G (p.Lys330Arg)
c.1703A>G (p.Lys568Arg)
n.2499A>G
n.2707A>G
1g.197427871A>TCA344038172CRB1c.2546A>T (p.Lys849Ile)
c.1427A>T (p.Lys476Ile)
c.689A>T (p.Lys230Ile)
c.2210A>T (p.Lys737Ile)
c.2339A>T (p.Lys780Ile)
c.2128+5915A>T (n.2128+5915A>T)
n.2547A>T
n.2755A>T
c.1964A>T (p.Lys655Ile)
c.989A>T (p.Lys330Ile)
c.1703A>T (p.Lys568Ile)
n.2499A>T
n.2707A>T
1g.197427872A=CA1218066398CRB1c.2547A= (p.Lys849=)
c.1428A= (p.Lys476=)
c.690A= (p.Lys230=)
c.2211A= (p.Lys737=)
c.2340A= (p.Lys780=)
c.2128+5916A= (n.2128+5916A=)
n.2548A=
n.2756A=
c.1965A= (p.Lys655=)
c.990A= (p.Lys330=)
c.1704A= (p.Lys568=)
n.2500A=
n.2708A=
1g.197427872A>CCA344038175CRB1c.2547A>C (p.Lys849Asn)
c.1428A>C (p.Lys476Asn)
c.690A>C (p.Lys230Asn)
c.2211A>C (p.Lys737Asn)
c.2340A>C (p.Lys780Asn)
c.2128+5916A>C (n.2128+5916A>C)
n.2548A>C
n.2756A>C
c.1965A>C (p.Lys655Asn)
c.990A>C (p.Lys330Asn)
c.1704A>C (p.Lys568Asn)
n.2500A>C
n.2708A>C
1g.197427872A>GCA1312138CRB1c.2547A>G (p.Lys849=)
c.1428A>G (p.Lys476=)
c.690A>G (p.Lys230=)
c.2211A>G (p.Lys737=)
c.2340A>G (p.Lys780=)
c.2128+5916A>G (n.2128+5916A>G)
n.2548A>G
n.2756A>G
c.1965A>G (p.Lys655=)
c.990A>G (p.Lys330=)
c.1704A>G (p.Lys568=)
n.2500A>G
n.2708A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427872A>TCA344038176CRB1c.2547A>T (p.Lys849Asn)
c.1428A>T (p.Lys476Asn)
c.690A>T (p.Lys230Asn)
c.2211A>T (p.Lys737Asn)
c.2340A>T (p.Lys780Asn)
c.2128+5916A>T (n.2128+5916A>T)
n.2548A>T
n.2756A>T
c.1965A>T (p.Lys655Asn)
c.990A>T (p.Lys330Asn)
c.1704A>T (p.Lys568Asn)
n.2500A>T
n.2708A>T
1g.197427872_197427876delinsAGGCTCA1218066396CRB1c.2547_2551delinsAGGCT (p.Lys849=)
c.1428_1432delinsAGGCT (p.Lys476=)
c.690_694delinsAGGCT (p.Lys230=)
c.2211_2215delinsAGGCT (p.Lys737=)
c.2340_2344delinsAGGCT (p.Lys780=)
c.2128+5916_2128+5920delinsAGGCT (n.2128+5916_2128+5920delinsAGGCT)
n.2548_2552delinsAGGCT
n.2756_2760delinsAGGCT
c.1965_1969delinsAGGCT (p.Lys655=)
c.990_994delinsAGGCT (p.Lys330=)
c.1704_1708delinsAGGCT (p.Lys568=)
n.2500_2504delinsAGGCT
n.2708_2712delinsAGGCT
1g.197427873G>ACA1312139CRB1c.2548G>A (p.Gly850Ser)
c.1429G>A (p.Gly477Ser)
c.691G>A (p.Gly231Ser)
c.2212G>A (p.Gly738Ser)
c.2341G>A (p.Gly781Ser)
c.2128+5917G>A (n.2128+5917G>A)
n.2549G>A
n.2757G>A
c.1966G>A (p.Gly656Ser)
c.991G>A (p.Gly331Ser)
c.1705G>A (p.Gly569Ser)
n.2501G>A
n.2709G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.197427873G>CCA344038180CRB1c.2548G>C (p.Gly850Arg)
c.1429G>C (p.Gly477Arg)
c.691G>C (p.Gly231Arg)
c.2212G>C (p.Gly738Arg)
c.2341G>C (p.Gly781Arg)
c.2128+5917G>C (n.2128+5917G>C)
n.2549G>C
n.2757G>C
c.1966G>C (p.Gly656Arg)
c.991G>C (p.Gly331Arg)
c.1705G>C (p.Gly569Arg)
n.2501G>C
n.2709G>C
 gnomAD v4
1g.197427873G=CA1218066404CRB1c.2548G= (p.Gly850=)
c.1429G= (p.Gly477=)
c.691G= (p.Gly231=)
c.2212G= (p.Gly738=)
c.2341G= (p.Gly781=)
c.2128+5917G= (n.2128+5917G=)
n.2549G=
n.2757G=
c.1966G= (p.Gly656=)
c.991G= (p.Gly331=)
c.1705G= (p.Gly569=)
n.2501G=
n.2709G=
1g.197427873G>TCA344038183CRB1c.2548G>T (p.Gly850Cys)
c.1429G>T (p.Gly477Cys)
c.691G>T (p.Gly231Cys)
c.2212G>T (p.Gly738Cys)
c.2341G>T (p.Gly781Cys)
c.2128+5917G>T (n.2128+5917G>T)
n.2549G>T
n.2757G>T
c.1966G>T (p.Gly656Cys)
c.991G>T (p.Gly331Cys)
c.1705G>T (p.Gly569Cys)
n.2501G>T
n.2709G>T
 ClinVar COSMIC COSMIC
1g.197427873_197427877delinsGGCTGCA1140762946CRB1c.2548_2552delinsGGCTG (p.Gly850=)
c.1429_1433delinsGGCTG (p.Gly477=)
c.691_695delinsGGCTG (p.Gly231=)
c.2212_2216delinsGGCTG (p.Gly738=)
c.2341_2345delinsGGCTG (p.Gly781=)
c.2128+5917_2128+5921delinsGGCTG (n.2128+5917_2128+5921delinsGGCTG)
n.2549_2553delinsGGCTG
n.2757_2761delinsGGCTG
c.1966_1970delinsGGCTG (p.Gly656=)
c.991_995delinsGGCTG (p.Gly331=)
c.1705_1709delinsGGCTG (p.Gly569=)
n.2501_2505delinsGGCTG
n.2709_2713delinsGGCTG
1g.197427874_197427877delCA228012CRB1c.2549_2552del (p.Gly850ValfsTer5)
c.1430_1433del (p.Gly477ValfsTer5)
c.692_695del (p.Gly231ValfsTer5)
c.2213_2216del (p.Gly738ValfsTer5)
c.2342_2345del (p.Gly781ValfsTer5)
c.2128+5918_2128+5921del (n.2128+5918_2128+5921del)
n.2550_2553del
n.2758_2761del
c.1967_1970del (p.Gly656ValfsTer5)
c.992_995del (p.Gly331ValfsTer5)
c.1706_1709del (p.Gly569ValfsTer5)
n.2502_2505del
n.2710_2713del
 ClinVar dbSNP
1g.197427874G>ACA35901098CRB1c.2549G>A (p.Gly850Asp)
c.1430G>A (p.Gly477Asp)
c.692G>A (p.Gly231Asp)
c.2213G>A (p.Gly738Asp)
c.2342G>A (p.Gly781Asp)
c.2128+5918G>A (n.2128+5918G>A)
n.2550G>A
n.2758G>A
c.1967G>A (p.Gly656Asp)
c.992G>A (p.Gly331Asp)
c.1706G>A (p.Gly569Asp)
n.2502G>A
n.2710G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197427874G>CCA344038189CRB1c.2549G>C (p.Gly850Ala)
c.1430G>C (p.Gly477Ala)
c.692G>C (p.Gly231Ala)
c.2213G>C (p.Gly738Ala)
c.2342G>C (p.Gly781Ala)
c.2128+5918G>C (n.2128+5918G>C)
n.2550G>C
n.2758G>C
c.1967G>C (p.Gly656Ala)
c.992G>C (p.Gly331Ala)
c.1706G>C (p.Gly569Ala)
n.2502G>C
n.2710G>C
 ClinVar dbSNP
1g.197427874G=CA1218066411CRB1c.2549G= (p.Gly850=)
c.1430G= (p.Gly477=)
c.692G= (p.Gly231=)
c.2213G= (p.Gly738=)
c.2342G= (p.Gly781=)
c.2128+5918G= (n.2128+5918G=)
n.2550G=
n.2758G=
c.1967G= (p.Gly656=)
c.992G= (p.Gly331=)
c.1706G= (p.Gly569=)
n.2502G=
n.2710G=
1g.197427874G>TCA1312140CRB1c.2549G>T (p.Gly850Val)
c.1430G>T (p.Gly477Val)
c.692G>T (p.Gly231Val)
c.2213G>T (p.Gly738Val)
c.2342G>T (p.Gly781Val)
c.2128+5918G>T (n.2128+5918G>T)
n.2550G>T
n.2758G>T
c.1967G>T (p.Gly656Val)
c.992G>T (p.Gly331Val)
c.1706G>T (p.Gly569Val)
n.2502G>T
n.2710G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427875C>ACA422808910CRB1c.2550C>A (p.Gly850=)
c.1431C>A (p.Gly477=)
c.693C>A (p.Gly231=)
c.2214C>A (p.Gly738=)
c.2343C>A (p.Gly781=)
c.2128+5919C>A (n.2128+5919C>A)
n.2551C>A
n.2759C>A
c.1968C>A (p.Gly656=)
c.993C>A (p.Gly331=)
c.1707C>A (p.Gly569=)
n.2503C>A
n.2711C>A
 COSMIC
1g.197427875C>GCA422808908CRB1c.2550C>G (p.Gly850=)
c.1431C>G (p.Gly477=)
c.693C>G (p.Gly231=)
c.2214C>G (p.Gly738=)
c.2343C>G (p.Gly781=)
c.2128+5919C>G (n.2128+5919C>G)
n.2551C>G
n.2759C>G
c.1968C>G (p.Gly656=)
c.993C>G (p.Gly331=)
c.1707C>G (p.Gly569=)
n.2503C>G
n.2711C>G
1g.197427875C>TCA422808909CRB1c.2550C>T (p.Gly850=)
c.1431C>T (p.Gly477=)
c.693C>T (p.Gly231=)
c.2214C>T (p.Gly738=)
c.2343C>T (p.Gly781=)
c.2128+5919C>T (n.2128+5919C>T)
n.2551C>T
n.2759C>T
c.1968C>T (p.Gly656=)
c.993C>T (p.Gly331=)
c.1707C>T (p.Gly569=)
n.2503C>T
n.2711C>T
 gnomAD v4
1g.197427876T>ACA344038211CRB1c.2551T>A (p.Cys851Ser)
c.1432T>A (p.Cys478Ser)
c.694T>A (p.Cys232Ser)
c.2215T>A (p.Cys739Ser)
c.2344T>A (p.Cys782Ser)
c.2128+5920T>A (n.2128+5920T>A)
n.2552T>A
n.2760T>A
c.1969T>A (p.Cys657Ser)
c.994T>A (p.Cys332Ser)
c.1708T>A (p.Cys570Ser)
n.2504T>A
n.2712T>A
1g.197427876T>CCA344038193CRB1c.2551T>C (p.Cys851Arg)
c.1432T>C (p.Cys478Arg)
c.694T>C (p.Cys232Arg)
c.2215T>C (p.Cys739Arg)
c.2344T>C (p.Cys782Arg)
c.2128+5920T>C (n.2128+5920T>C)
n.2552T>C
n.2760T>C
c.1969T>C (p.Cys657Arg)
c.994T>C (p.Cys332Arg)
c.1708T>C (p.Cys570Arg)
n.2504T>C
n.2712T>C
 gnomAD v4
1g.197427876T>GCA344038196CRB1c.2551T>G (p.Cys851Gly)
c.1432T>G (p.Cys478Gly)
c.694T>G (p.Cys232Gly)
c.2215T>G (p.Cys739Gly)
c.2344T>G (p.Cys782Gly)
c.2128+5920T>G (n.2128+5920T>G)
n.2552T>G
n.2760T>G
c.1969T>G (p.Cys657Gly)
c.994T>G (p.Cys332Gly)
c.1708T>G (p.Cys570Gly)
n.2504T>G
n.2712T>G
1g.197427877G>ACA344038214CRB1c.2552G>A (p.Cys851Tyr)
c.1433G>A (p.Cys478Tyr)
c.695G>A (p.Cys232Tyr)
c.2216G>A (p.Cys739Tyr)
c.2345G>A (p.Cys782Tyr)
c.2128+5921G>A (n.2128+5921G>A)
n.2553G>A
n.2761G>A
c.1970G>A (p.Cys657Tyr)
c.995G>A (p.Cys332Tyr)
c.1709G>A (p.Cys570Tyr)
n.2505G>A
n.2713G>A
1g.197427877G>CCA344038216CRB1c.2552G>C (p.Cys851Ser)
c.1433G>C (p.Cys478Ser)
c.695G>C (p.Cys232Ser)
c.2216G>C (p.Cys739Ser)
c.2345G>C (p.Cys782Ser)
c.2128+5921G>C (n.2128+5921G>C)
n.2553G>C
n.2761G>C
c.1970G>C (p.Cys657Ser)
c.995G>C (p.Cys332Ser)
c.1709G>C (p.Cys570Ser)
n.2505G>C
n.2713G>C
 ClinVar
1g.197427877G>TCA344038223CRB1c.2552G>T (p.Cys851Phe)
c.1433G>T (p.Cys478Phe)
c.695G>T (p.Cys232Phe)
c.2216G>T (p.Cys739Phe)
c.2345G>T (p.Cys782Phe)
c.2128+5921G>T (n.2128+5921G>T)
n.2553G>T
n.2761G>T
c.1970G>T (p.Cys657Phe)
c.995G>T (p.Cys332Phe)
c.1709G>T (p.Cys570Phe)
n.2505G>T
n.2713G>T
1g.197427878T>ACA344038226CRB1c.2553T>A (p.Cys851Ter)
c.1434T>A (p.Cys478Ter)
c.696T>A (p.Cys232Ter)
c.2217T>A (p.Cys739Ter)
c.2346T>A (p.Cys782Ter)
c.2128+5922T>A (n.2128+5922T>A)
n.2554T>A
n.2762T>A
c.1971T>A (p.Cys657Ter)
c.996T>A (p.Cys332Ter)
c.1710T>A (p.Cys570Ter)
n.2506T>A
n.2714T>A
1g.197427878T>CCA1312141CRB1c.2553T>C (p.Cys851=)
c.1434T>C (p.Cys478=)
c.696T>C (p.Cys232=)
c.2217T>C (p.Cys739=)
c.2346T>C (p.Cys782=)
c.2128+5922T>C (n.2128+5922T>C)
n.2554T>C
n.2762T>C
c.1971T>C (p.Cys657=)
c.996T>C (p.Cys332=)
c.1710T>C (p.Cys570=)
n.2506T>C
n.2714T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427878T>GCA344038232CRB1c.2553T>G (p.Cys851Trp)
c.1434T>G (p.Cys478Trp)
c.696T>G (p.Cys232Trp)
c.2217T>G (p.Cys739Trp)
c.2346T>G (p.Cys782Trp)
c.2128+5922T>G (n.2128+5922T>G)
n.2554T>G
n.2762T>G
c.1971T>G (p.Cys657Trp)
c.996T>G (p.Cys332Trp)
c.1710T>G (p.Cys570Trp)
n.2506T>G
n.2714T>G
1g.197427878T=CA1218066418CRB1c.2553T= (p.Cys851=)
c.1434T= (p.Cys478=)
c.696T= (p.Cys232=)
c.2217T= (p.Cys739=)
c.2346T= (p.Cys782=)
c.2128+5922T= (n.2128+5922T=)
n.2554T=
n.2762T=
c.1971T= (p.Cys657=)
c.996T= (p.Cys332=)
c.1710T= (p.Cys570=)
n.2506T=
n.2714T=
1g.197427879A>CCA344038240CRB1c.2554A>C (p.Ile852Leu)
c.1435A>C (p.Ile479Leu)
c.697A>C (p.Ile233Leu)
c.2218A>C (p.Ile740Leu)
c.2347A>C (p.Ile783Leu)
c.2128+5923A>C (n.2128+5923A>C)
n.2555A>C
n.2763A>C
c.1972A>C (p.Ile658Leu)
c.997A>C (p.Ile333Leu)
c.1711A>C (p.Ile571Leu)
n.2507A>C
n.2715A>C
1g.197427879A>GCA344038241CRB1c.2554A>G (p.Ile852Val)
c.1435A>G (p.Ile479Val)
c.697A>G (p.Ile233Val)
c.2218A>G (p.Ile740Val)
c.2347A>G (p.Ile783Val)
c.2128+5923A>G (n.2128+5923A>G)
n.2555A>G
n.2763A>G
c.1972A>G (p.Ile658Val)
c.997A>G (p.Ile333Val)
c.1711A>G (p.Ile571Val)
n.2507A>G
n.2715A>G
1g.197427879A>TCA344038243CRB1c.2554A>T (p.Ile852Phe)
c.1435A>T (p.Ile479Phe)
c.697A>T (p.Ile233Phe)
c.2218A>T (p.Ile740Phe)
c.2347A>T (p.Ile783Phe)
c.2128+5923A>T (n.2128+5923A>T)
n.2555A>T
n.2763A>T
c.1972A>T (p.Ile658Phe)
c.997A>T (p.Ile333Phe)
c.1711A>T (p.Ile571Phe)
n.2507A>T
n.2715A>T
1g.197427880T>ACA344038246CRB1c.2555T>A (p.Ile852Asn)
c.1436T>A (p.Ile479Asn)
c.698T>A (p.Ile233Asn)
c.2219T>A (p.Ile740Asn)
c.2348T>A (p.Ile783Asn)
c.2128+5924T>A (n.2128+5924T>A)
n.2556T>A
n.2764T>A
c.1973T>A (p.Ile658Asn)
c.998T>A (p.Ile333Asn)
c.1712T>A (p.Ile571Asn)
n.2508T>A
n.2716T>A
1g.197427880T>CCA228013CRB1c.2555T>C (p.Ile852Thr)
c.1436T>C (p.Ile479Thr)
c.698T>C (p.Ile233Thr)
c.2219T>C (p.Ile740Thr)
c.2348T>C (p.Ile783Thr)
c.2128+5924T>C (n.2128+5924T>C)
n.2556T>C
n.2764T>C
c.1973T>C (p.Ile658Thr)
c.998T>C (p.Ile333Thr)
c.1712T>C (p.Ile571Thr)
n.2508T>C
n.2716T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197427880T>GCA344038252CRB1c.2555T>G (p.Ile852Ser)
c.1436T>G (p.Ile479Ser)
c.698T>G (p.Ile233Ser)
c.2219T>G (p.Ile740Ser)
c.2348T>G (p.Ile783Ser)
c.2128+5924T>G (n.2128+5924T>G)
n.2556T>G
n.2764T>G
c.1973T>G (p.Ile658Ser)
c.998T>G (p.Ile333Ser)
c.1712T>G (p.Ile571Ser)
n.2508T>G
n.2716T>G
1g.197427880T=CA1140762947CRB1c.2555T= (p.Ile852=)
c.1436T= (p.Ile479=)
c.698T= (p.Ile233=)
c.2219T= (p.Ile740=)
c.2348T= (p.Ile783=)
c.2128+5924T= (n.2128+5924T=)
n.2556T=
n.2764T=
c.1973T= (p.Ile658=)
c.998T= (p.Ile333=)
c.1712T= (p.Ile571=)
n.2508T=
n.2716T=
1g.197427881C>ACA422808912CRB1c.2556C>A (p.Ile852=)
c.1437C>A (p.Ile479=)
c.699C>A (p.Ile233=)
c.2220C>A (p.Ile740=)
c.2349C>A (p.Ile783=)
c.2128+5925C>A (n.2128+5925C>A)
n.2557C>A
n.2765C>A
c.1974C>A (p.Ile658=)
c.999C>A (p.Ile333=)
c.1713C>A (p.Ile571=)
n.2509C>A
n.2717C>A
 gnomAD v4 COSMIC COSMIC
1g.197427881C>GCA344038253CRB1c.2556C>G (p.Ile852Met)
c.1437C>G (p.Ile479Met)
c.699C>G (p.Ile233Met)
c.2220C>G (p.Ile740Met)
c.2349C>G (p.Ile783Met)
c.2128+5925C>G (n.2128+5925C>G)
n.2557C>G
n.2765C>G
c.1974C>G (p.Ile658Met)
c.999C>G (p.Ile333Met)
c.1713C>G (p.Ile571Met)
n.2509C>G
n.2717C>G
1g.197427881C>TCA422808914CRB1c.2556C>T (p.Ile852=)
c.1437C>T (p.Ile479=)
c.699C>T (p.Ile233=)
c.2220C>T (p.Ile740=)
c.2349C>T (p.Ile783=)
c.2128+5925C>T (n.2128+5925C>T)
n.2557C>T
n.2765C>T
c.1974C>T (p.Ile658=)
c.999C>T (p.Ile333=)
c.1713C>T (p.Ile571=)
n.2509C>T
n.2717C>T
1g.197427881_197427890delCA2747247676CRB1c.2556_2565del (p.Gln853AspfsTer2)
c.1437_1446del (p.Gln480AspfsTer2)
c.699_708del (p.Gln234AspfsTer2)
c.2220_2229del (p.Gln741AspfsTer2)
c.2349_2358del (p.Gln784AspfsTer2)
c.2128+5925_2128+5934del (n.2128+5925_2128+5934del)
n.2557_2566del
n.2765_2774del
c.1974_1983del (p.Gln659AspfsTer2)
c.999_1008del (p.Gln334AspfsTer2)
c.1713_1722del (p.Gln572AspfsTer2)
n.2509_2518del
n.2717_2726del
1g.197427882C>ACA344038263CRB1c.2557C>A (p.Gln853Lys)
c.1438C>A (p.Gln480Lys)
c.700C>A (p.Gln234Lys)
c.2221C>A (p.Gln741Lys)
c.2350C>A (p.Gln784Lys)
c.2128+5926C>A (n.2128+5926C>A)
n.2558C>A
n.2766C>A
c.1975C>A (p.Gln659Lys)
c.1000C>A (p.Gln334Lys)
c.1714C>A (p.Gln572Lys)
n.2510C>A
n.2718C>A
 ClinVar
1g.197427882C>GCA344038261CRB1c.2557C>G (p.Gln853Glu)
c.1438C>G (p.Gln480Glu)
c.700C>G (p.Gln234Glu)
c.2221C>G (p.Gln741Glu)
c.2350C>G (p.Gln784Glu)
c.2128+5926C>G (n.2128+5926C>G)
n.2558C>G
n.2766C>G
c.1975C>G (p.Gln659Glu)
c.1000C>G (p.Gln334Glu)
c.1714C>G (p.Gln572Glu)
n.2510C>G
n.2718C>G
1g.197427882C>TCA344038256CRB1c.2557C>T (p.Gln853Ter)
c.1438C>T (p.Gln480Ter)
c.700C>T (p.Gln234Ter)
c.2221C>T (p.Gln741Ter)
c.2350C>T (p.Gln784Ter)
c.2128+5926C>T (n.2128+5926C>T)
n.2558C>T
n.2766C>T
c.1975C>T (p.Gln659Ter)
c.1000C>T (p.Gln334Ter)
c.1714C>T (p.Gln572Ter)
n.2510C>T
n.2718C>T
1g.197427883A>CCA344038264CRB1c.2558A>C (p.Gln853Pro)
c.1439A>C (p.Gln480Pro)
c.701A>C (p.Gln234Pro)
c.2222A>C (p.Gln741Pro)
c.2351A>C (p.Gln784Pro)
c.2128+5927A>C (n.2128+5927A>C)
n.2559A>C
n.2767A>C
c.1976A>C (p.Gln659Pro)
c.1001A>C (p.Gln334Pro)
c.1715A>C (p.Gln572Pro)
n.2511A>C
n.2719A>C
1g.197427883A>GCA344038266CRB1c.2558A>G (p.Gln853Arg)
c.1439A>G (p.Gln480Arg)
c.701A>G (p.Gln234Arg)
c.2222A>G (p.Gln741Arg)
c.2351A>G (p.Gln784Arg)
c.2128+5927A>G (n.2128+5927A>G)
n.2559A>G
n.2767A>G
c.1976A>G (p.Gln659Arg)
c.1001A>G (p.Gln334Arg)
c.1715A>G (p.Gln572Arg)
n.2511A>G
n.2719A>G
1g.197427883A>TCA344038268CRB1c.2558A>T (p.Gln853Leu)
c.1439A>T (p.Gln480Leu)
c.701A>T (p.Gln234Leu)
c.2222A>T (p.Gln741Leu)
c.2351A>T (p.Gln784Leu)
c.2128+5927A>T (n.2128+5927A>T)
n.2559A>T
n.2767A>T
c.1976A>T (p.Gln659Leu)
c.1001A>T (p.Gln334Leu)
c.1715A>T (p.Gln572Leu)
n.2511A>T
n.2719A>T
1g.197427887_197427893delCA2586964526CRB1c.2562_2568del (p.Val855Ter)
c.1443_1449del (p.Val482Ter)
c.705_711del (p.Val236Ter)
c.2226_2232del (p.Val743Ter)
c.2355_2361del (p.Val786Ter)
c.2128+5931_2128+5937del (n.2128+5931_2128+5937del)
n.2563_2569del
n.2771_2777del
c.1980_1986del (p.Val661Ter)
c.1005_1011del (p.Val336Ter)
c.1719_1725del (p.Val574Ter)
n.2515_2521del
n.2723_2729del
1g.197427884A>CCA344038271CRB1c.2559A>C (p.Gln853His)
c.1440A>C (p.Gln480His)
c.702A>C (p.Gln234His)
c.2223A>C (p.Gln741His)
c.2352A>C (p.Gln784His)
c.2128+5928A>C (n.2128+5928A>C)
n.2560A>C
n.2768A>C
c.1977A>C (p.Gln659His)
c.1002A>C (p.Gln334His)
c.1716A>C (p.Gln572His)
n.2512A>C
n.2720A>C
1g.197427884A>GCA422808918CRB1c.2559A>G (p.Gln853=)
c.1440A>G (p.Gln480=)
c.702A>G (p.Gln234=)
c.2223A>G (p.Gln741=)
c.2352A>G (p.Gln784=)
c.2128+5928A>G (n.2128+5928A>G)
n.2560A>G
n.2768A>G
c.1977A>G (p.Gln659=)
c.1002A>G (p.Gln334=)
c.1716A>G (p.Gln572=)
n.2512A>G
n.2720A>G
1g.197427884A>TCA344038273CRB1c.2559A>T (p.Gln853His)
c.1440A>T (p.Gln480His)
c.702A>T (p.Gln234His)
c.2223A>T (p.Gln741His)
c.2352A>T (p.Gln784His)
c.2128+5928A>T (n.2128+5928A>T)
n.2560A>T
n.2768A>T
c.1977A>T (p.Gln659His)
c.1002A>T (p.Gln334His)
c.1716A>T (p.Gln572His)
n.2512A>T
n.2720A>T
1g.197427885delCA2649670189CRB1c.2560del (p.Asp854MetfsTer2)
c.1441del (p.Asp481MetfsTer2)
c.703del (p.Asp235MetfsTer2)
c.2224del (p.Asp742MetfsTer2)
c.2353del (p.Asp785MetfsTer2)
c.2128+5929del (n.2128+5929del)
n.2561del
n.2769del
c.1978del (p.Asp660MetfsTer2)
c.1003del (p.Asp335MetfsTer2)
c.1717del (p.Asp573MetfsTer2)
n.2513del
n.2721del
 gnomAD v4
1g.197427885G>ACA344038276CRB1c.2560G>A (p.Asp854Asn)
c.1441G>A (p.Asp481Asn)
c.703G>A (p.Asp235Asn)
c.2224G>A (p.Asp742Asn)
c.2353G>A (p.Asp785Asn)
c.2128+5929G>A (n.2128+5929G>A)
n.2561G>A
n.2769G>A
c.1978G>A (p.Asp660Asn)
c.1003G>A (p.Asp335Asn)
c.1717G>A (p.Asp573Asn)
n.2513G>A
n.2721G>A
 gnomAD v4
1g.197427885G>CCA344038278CRB1c.2560G>C (p.Asp854His)
c.1441G>C (p.Asp481His)
c.703G>C (p.Asp235His)
c.2224G>C (p.Asp742His)
c.2353G>C (p.Asp785His)
c.2128+5929G>C (n.2128+5929G>C)
n.2561G>C
n.2769G>C
c.1978G>C (p.Asp660His)
c.1003G>C (p.Asp335His)
c.1717G>C (p.Asp573His)
n.2513G>C
n.2721G>C
 ClinVar dbSNP
1g.197427885G=CA1218066425CRB1c.2560G= (p.Asp854=)
c.1441G= (p.Asp481=)
c.703G= (p.Asp235=)
c.2224G= (p.Asp742=)
c.2353G= (p.Asp785=)
c.2128+5929G= (n.2128+5929G=)
n.2561G=
n.2769G=
c.1978G= (p.Asp660=)
c.1003G= (p.Asp335=)
c.1717G= (p.Asp573=)
n.2513G=
n.2721G=
1g.197427885G>TCA344038280CRB1c.2560G>T (p.Asp854Tyr)
c.1441G>T (p.Asp481Tyr)
c.703G>T (p.Asp235Tyr)
c.2224G>T (p.Asp742Tyr)
c.2353G>T (p.Asp785Tyr)
c.2128+5929G>T (n.2128+5929G>T)
n.2561G>T
n.2769G>T
c.1978G>T (p.Asp660Tyr)
c.1003G>T (p.Asp335Tyr)
c.1717G>T (p.Asp573Tyr)
n.2513G>T
n.2721G>T
 ClinVar dbSNP
1g.197427886A>CCA344038281CRB1c.2561A>C (p.Asp854Ala)
c.1442A>C (p.Asp481Ala)
c.704A>C (p.Asp235Ala)
c.2225A>C (p.Asp742Ala)
c.2354A>C (p.Asp785Ala)
c.2128+5930A>C (n.2128+5930A>C)
n.2562A>C
n.2770A>C
c.1979A>C (p.Asp660Ala)
c.1004A>C (p.Asp335Ala)
c.1718A>C (p.Asp573Ala)
n.2514A>C
n.2722A>C
1g.197427886A>GCA344038282CRB1c.2561A>G (p.Asp854Gly)
c.1442A>G (p.Asp481Gly)
c.704A>G (p.Asp235Gly)
c.2225A>G (p.Asp742Gly)
c.2354A>G (p.Asp785Gly)
c.2128+5930A>G (n.2128+5930A>G)
n.2562A>G
n.2770A>G
c.1979A>G (p.Asp660Gly)
c.1004A>G (p.Asp335Gly)
c.1718A>G (p.Asp573Gly)
n.2514A>G
n.2722A>G
1g.197427886A>TCA344038283CRB1c.2561A>T (p.Asp854Val)
c.1442A>T (p.Asp481Val)
c.704A>T (p.Asp235Val)
c.2225A>T (p.Asp742Val)
c.2354A>T (p.Asp785Val)
c.2128+5930A>T (n.2128+5930A>T)
n.2562A>T
n.2770A>T
c.1979A>T (p.Asp660Val)
c.1004A>T (p.Asp335Val)
c.1718A>T (p.Asp573Val)
n.2514A>T
n.2722A>T
1g.197427887T>ACA344038286CRB1c.2562T>A (p.Asp854Glu)
c.1443T>A (p.Asp481Glu)
c.705T>A (p.Asp235Glu)
c.2226T>A (p.Asp742Glu)
c.2355T>A (p.Asp785Glu)
c.2128+5931T>A (n.2128+5931T>A)
n.2563T>A
n.2771T>A
c.1980T>A (p.Asp660Glu)
c.1005T>A (p.Asp335Glu)
c.1719T>A (p.Asp573Glu)
n.2515T>A
n.2723T>A
 COSMIC COSMIC
1g.197427887T>CCA422808921CRB1c.2562T>C (p.Asp854=)
c.1443T>C (p.Asp481=)
c.705T>C (p.Asp235=)
c.2226T>C (p.Asp742=)
c.2355T>C (p.Asp785=)
c.2128+5931T>C (n.2128+5931T>C)
n.2563T>C
n.2771T>C
c.1980T>C (p.Asp660=)
c.1005T>C (p.Asp335=)
c.1719T>C (p.Asp573=)
n.2515T>C
n.2723T>C
1g.197427887T>GCA344038288CRB1c.2562T>G (p.Asp854Glu)
c.1443T>G (p.Asp481Glu)
c.705T>G (p.Asp235Glu)
c.2226T>G (p.Asp742Glu)
c.2355T>G (p.Asp785Glu)
c.2128+5931T>G (n.2128+5931T>G)
n.2563T>G
n.2771T>G
c.1980T>G (p.Asp660Glu)
c.1005T>G (p.Asp335Glu)
c.1719T>G (p.Asp573Glu)
n.2515T>G
n.2723T>G
1g.197427888G>ACA1312142CRB1c.2563G>A (p.Val855Ile)
c.1444G>A (p.Val482Ile)
c.706G>A (p.Val236Ile)
c.2227G>A (p.Val743Ile)
c.2356G>A (p.Val786Ile)
c.2128+5932G>A (n.2128+5932G>A)
n.2564G>A
n.2772G>A
c.1981G>A (p.Val661Ile)
c.1006G>A (p.Val336Ile)
c.1720G>A (p.Val574Ile)
n.2516G>A
n.2724G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427888G>CCA344038293CRB1c.2563G>C (p.Val855Leu)
c.1444G>C (p.Val482Leu)
c.706G>C (p.Val236Leu)
c.2227G>C (p.Val743Leu)
c.2356G>C (p.Val786Leu)
c.2128+5932G>C (n.2128+5932G>C)
n.2564G>C
n.2772G>C
c.1981G>C (p.Val661Leu)
c.1006G>C (p.Val336Leu)
c.1720G>C (p.Val574Leu)
n.2516G>C
n.2724G>C
1g.197427888G=CA1146572757CRB1c.2563G= (p.Val855=)
c.1444G= (p.Val482=)
c.706G= (p.Val236=)
c.2227G= (p.Val743=)
c.2356G= (p.Val786=)
c.2128+5932G= (n.2128+5932G=)
n.2564G=
n.2772G=
c.1981G= (p.Val661=)
c.1006G= (p.Val336=)
c.1720G= (p.Val574=)
n.2516G=
n.2724G=
1g.197427888G>TCA344038290CRB1c.2563G>T (p.Val855Leu)
c.1444G>T (p.Val482Leu)
c.706G>T (p.Val236Leu)
c.2227G>T (p.Val743Leu)
c.2356G>T (p.Val786Leu)
c.2128+5932G>T (n.2128+5932G>T)
n.2564G>T
n.2772G>T
c.1981G>T (p.Val661Leu)
c.1006G>T (p.Val336Leu)
c.1720G>T (p.Val574Leu)
n.2516G>T
n.2724G>T
1g.197427889T>ACA344038296CRB1c.2564T>A (p.Val855Glu)
c.1445T>A (p.Val482Glu)
c.707T>A (p.Val236Glu)
c.2228T>A (p.Val743Glu)
c.2357T>A (p.Val786Glu)
c.2128+5933T>A (n.2128+5933T>A)
n.2565T>A
n.2773T>A
c.1982T>A (p.Val661Glu)
c.1007T>A (p.Val336Glu)
c.1721T>A (p.Val574Glu)
n.2517T>A
n.2725T>A
1g.197427889T>CCA344038300CRB1c.2564T>C (p.Val855Ala)
c.1445T>C (p.Val482Ala)
c.707T>C (p.Val236Ala)
c.2228T>C (p.Val743Ala)
c.2357T>C (p.Val786Ala)
c.2128+5933T>C (n.2128+5933T>C)
n.2565T>C
n.2773T>C
c.1982T>C (p.Val661Ala)
c.1007T>C (p.Val336Ala)
c.1721T>C (p.Val574Ala)
n.2517T>C
n.2725T>C
1g.197427889T>GCA344038298CRB1c.2564T>G (p.Val855Gly)
c.1445T>G (p.Val482Gly)
c.707T>G (p.Val236Gly)
c.2228T>G (p.Val743Gly)
c.2357T>G (p.Val786Gly)
c.2128+5933T>G (n.2128+5933T>G)
n.2565T>G
n.2773T>G
c.1982T>G (p.Val661Gly)
c.1007T>G (p.Val336Gly)
c.1721T>G (p.Val574Gly)
n.2517T>G
n.2725T>G
1g.197427890A=CA1218066434CRB1c.2565A= (p.Val855=)
c.1446A= (p.Val482=)
c.708A= (p.Val236=)
c.2229A= (p.Val743=)
c.2358A= (p.Val786=)
c.2128+5934A= (n.2128+5934A=)
n.2566A=
n.2774A=
c.1983A= (p.Val661=)
c.1008A= (p.Val336=)
c.1722A= (p.Val574=)
n.2518A=
n.2726A=
1g.197427890A>CCA422808924CRB1c.2565A>C (p.Val855=)
c.1446A>C (p.Val482=)
c.708A>C (p.Val236=)
c.2229A>C (p.Val743=)
c.2358A>C (p.Val786=)
c.2128+5934A>C (n.2128+5934A>C)
n.2566A>C
n.2774A>C
c.1983A>C (p.Val661=)
c.1008A>C (p.Val336=)
c.1722A>C (p.Val574=)
n.2518A>C
n.2726A>C
1g.197427890A>GCA422808925CRB1c.2565A>G (p.Val855=)
c.1446A>G (p.Val482=)
c.708A>G (p.Val236=)
c.2229A>G (p.Val743=)
c.2358A>G (p.Val786=)
c.2128+5934A>G (n.2128+5934A>G)
n.2566A>G
n.2774A>G
c.1983A>G (p.Val661=)
c.1008A>G (p.Val336=)
c.1722A>G (p.Val574=)
n.2518A>G
n.2726A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197427890A>TCA422808927CRB1c.2565A>T (p.Val855=)
c.1446A>T (p.Val482=)
c.708A>T (p.Val236=)
c.2229A>T (p.Val743=)
c.2358A>T (p.Val786=)
c.2128+5934A>T (n.2128+5934A>T)
n.2566A>T
n.2774A>T
c.1983A>T (p.Val661=)
c.1008A>T (p.Val336=)
c.1722A>T (p.Val574=)
n.2518A>T
n.2726A>T
1g.197427891A>CCA422808928CRB1c.2566A>C (p.Arg856=)
c.1447A>C (p.Arg483=)
c.709A>C (p.Arg237=)
c.2230A>C (p.Arg744=)
c.2359A>C (p.Arg787=)
c.2128+5935A>C (n.2128+5935A>C)
n.2567A>C
n.2775A>C
c.1984A>C (p.Arg662=)
c.1009A>C (p.Arg337=)
c.1723A>C (p.Arg575=)
n.2519A>C
n.2727A>C
1g.197427891A>GCA344038302CRB1c.2566A>G (p.Arg856Gly)
c.1447A>G (p.Arg483Gly)
c.709A>G (p.Arg237Gly)
c.2230A>G (p.Arg744Gly)
c.2359A>G (p.Arg787Gly)
c.2128+5935A>G (n.2128+5935A>G)
n.2567A>G
n.2775A>G
c.1984A>G (p.Arg662Gly)
c.1009A>G (p.Arg337Gly)
c.1723A>G (p.Arg575Gly)
n.2519A>G
n.2727A>G
1g.197427891A>TCA344038304CRB1c.2566A>T (p.Arg856Ter)
c.1447A>T (p.Arg483Ter)
c.709A>T (p.Arg237Ter)
c.2230A>T (p.Arg744Ter)
c.2359A>T (p.Arg787Ter)
c.2128+5935A>T (n.2128+5935A>T)
n.2567A>T
n.2775A>T
c.1984A>T (p.Arg662Ter)
c.1009A>T (p.Arg337Ter)
c.1723A>T (p.Arg575Ter)
n.2519A>T
n.2727A>T
1g.197427892G>ACA344038307CRB1c.2567G>A (p.Arg856Lys)
c.1448G>A (p.Arg483Lys)
c.710G>A (p.Arg237Lys)
c.2231G>A (p.Arg744Lys)
c.2360G>A (p.Arg787Lys)
c.2128+5936G>A (n.2128+5936G>A)
n.2568G>A
n.2776G>A
c.1985G>A (p.Arg662Lys)
c.1010G>A (p.Arg337Lys)
c.1724G>A (p.Arg575Lys)
n.2520G>A
n.2728G>A
 ClinVar gnomAD v4
1g.197427892G>CCA344038308CRB1c.2567G>C (p.Arg856Thr)
c.1448G>C (p.Arg483Thr)
c.710G>C (p.Arg237Thr)
c.2231G>C (p.Arg744Thr)
c.2360G>C (p.Arg787Thr)
c.2128+5936G>C (n.2128+5936G>C)
n.2568G>C
n.2776G>C
c.1985G>C (p.Arg662Thr)
c.1010G>C (p.Arg337Thr)
c.1724G>C (p.Arg575Thr)
n.2520G>C
n.2728G>C
1g.197427892G>TCA344038312CRB1c.2567G>T (p.Arg856Ile)
c.1448G>T (p.Arg483Ile)
c.710G>T (p.Arg237Ile)
c.2231G>T (p.Arg744Ile)
c.2360G>T (p.Arg787Ile)
c.2128+5936G>T (n.2128+5936G>T)
n.2568G>T
n.2776G>T
c.1985G>T (p.Arg662Ile)
c.1010G>T (p.Arg337Ile)
c.1724G>T (p.Arg575Ile)
n.2520G>T
n.2728G>T
1g.197427893A=CA1218066436CRB1c.2568A= (p.Arg856=)
c.1449A= (p.Arg483=)
c.711A= (p.Arg237=)
c.2232A= (p.Arg744=)
c.2361A= (p.Arg787=)
c.2128+5937A= (n.2128+5937A=)
n.2569A=
n.2777A=
c.1986A= (p.Arg662=)
c.1011A= (p.Arg337=)
c.1725A= (p.Arg575=)
n.2521A=
n.2729A=
1g.197427893A>CCA344038315CRB1c.2568A>C (p.Arg856Ser)
c.1449A>C (p.Arg483Ser)
c.711A>C (p.Arg237Ser)
c.2232A>C (p.Arg744Ser)
c.2361A>C (p.Arg787Ser)
c.2128+5937A>C (n.2128+5937A>C)
n.2569A>C
n.2777A>C
c.1986A>C (p.Arg662Ser)
c.1011A>C (p.Arg337Ser)
c.1725A>C (p.Arg575Ser)
n.2521A>C
n.2729A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197427893A>GCA422808929CRB1c.2568A>G (p.Arg856=)
c.1449A>G (p.Arg483=)
c.711A>G (p.Arg237=)
c.2232A>G (p.Arg744=)
c.2361A>G (p.Arg787=)
c.2128+5937A>G (n.2128+5937A>G)
n.2569A>G
n.2777A>G
c.1986A>G (p.Arg662=)
c.1011A>G (p.Arg337=)
c.1725A>G (p.Arg575=)
n.2521A>G
n.2729A>G
 dbSNP gnomAD v2 gnomAD v4
1g.197427893A>TCA344038317CRB1c.2568A>T (p.Arg856Ser)
c.1449A>T (p.Arg483Ser)
c.711A>T (p.Arg237Ser)
c.2232A>T (p.Arg744Ser)
c.2361A>T (p.Arg787Ser)
c.2128+5937A>T (n.2128+5937A>T)
n.2569A>T
n.2777A>T
c.1986A>T (p.Arg662Ser)
c.1011A>T (p.Arg337Ser)
c.1725A>T (p.Arg575Ser)
n.2521A>T
n.2729A>T
1g.197427895_197427899delCA2695199947CRB1c.2570_2574del (p.Leu857GlnfsTer?)
c.1451_1455del (p.Leu484GlnfsTer?)
c.713_717del (p.Leu238GlnfsTer?)
c.2234_2238del (p.Leu745GlnfsTer?)
c.2363_2367del (p.Leu788GlnfsTer?)
c.2128+5939_2128+5943del (n.2128+5939_2128+5943del)
n.2571_2575del
n.2779_2783del
c.1988_1992del (p.Leu663GlnfsTer?)
c.1013_1017del (p.Leu338GlnfsTer?)
c.1727_1731del (p.Leu576GlnfsTer?)
n.2523_2527del
n.2731_2735del
 ClinVar
1g.197427894_197427907delCA2649670206CRB1c.2569_2582del (p.Leu857SerfsTer?)
c.1450_1463del (p.Leu484SerfsTer?)
c.712_725del (p.Leu238SerfsTer?)
c.2233_2246del (p.Leu745SerfsTer?)
c.2362_2375del (p.Leu788SerfsTer?)
c.2128+5938_2128+5951del (n.2128+5938_2128+5951del)
n.2570_2583del
n.2778_2791del
c.1987_2000del (p.Leu663SerfsTer?)
c.1012_1025del (p.Leu338SerfsTer?)
c.1726_1739del (p.Leu576SerfsTer?)
n.2522_2535del
n.2730_2743del
 gnomAD v4
1g.197427894C>ACA344038318CRB1c.2569C>A (p.Leu857Ile)
c.1450C>A (p.Leu484Ile)
c.712C>A (p.Leu238Ile)
c.2233C>A (p.Leu745Ile)
c.2362C>A (p.Leu788Ile)
c.2128+5938C>A (n.2128+5938C>A)
n.2570C>A
n.2778C>A
c.1987C>A (p.Leu663Ile)
c.1012C>A (p.Leu338Ile)
c.1726C>A (p.Leu576Ile)
n.2522C>A
n.2730C>A
1g.197427894C=CA1218066438CRB1c.2569C= (p.Leu857=)
c.1450C= (p.Leu484=)
c.712C= (p.Leu238=)
c.2233C= (p.Leu745=)
c.2362C= (p.Leu788=)
c.2128+5938C= (n.2128+5938C=)
n.2570C=
n.2778C=
c.1987C= (p.Leu663=)
c.1012C= (p.Leu338=)
c.1726C= (p.Leu576=)
n.2522C=
n.2730C=
1g.197427894C>GCA344038320CRB1c.2569C>G (p.Leu857Val)
c.1450C>G (p.Leu484Val)
c.712C>G (p.Leu238Val)
c.2233C>G (p.Leu745Val)
c.2362C>G (p.Leu788Val)
c.2128+5938C>G (n.2128+5938C>G)
n.2570C>G
n.2778C>G
c.1987C>G (p.Leu663Val)
c.1012C>G (p.Leu338Val)
c.1726C>G (p.Leu576Val)
n.2522C>G
n.2730C>G
1g.197427894C>TCA422808931CRB1c.2569C>T (p.Leu857=)
c.1450C>T (p.Leu484=)
c.712C>T (p.Leu238=)
c.2233C>T (p.Leu745=)
c.2362C>T (p.Leu788=)
c.2128+5938C>T (n.2128+5938C>T)
n.2570C>T
n.2778C>T
c.1987C>T (p.Leu663=)
c.1012C>T (p.Leu338=)
c.1726C>T (p.Leu576=)
n.2522C>T
n.2730C>T
 ClinVar dbSNP
1g.197427895T>ACA344038323CRB1c.2570T>A (p.Leu857Gln)
c.1451T>A (p.Leu484Gln)
c.713T>A (p.Leu238Gln)
c.2234T>A (p.Leu745Gln)
c.2363T>A (p.Leu788Gln)
c.2128+5939T>A (n.2128+5939T>A)
n.2571T>A
n.2779T>A
c.1988T>A (p.Leu663Gln)
c.1013T>A (p.Leu338Gln)
c.1727T>A (p.Leu576Gln)
n.2523T>A
n.2731T>A
1g.197427895T>CCA344038324CRB1c.2570T>C (p.Leu857Pro)
c.1451T>C (p.Leu484Pro)
c.713T>C (p.Leu238Pro)
c.2234T>C (p.Leu745Pro)
c.2363T>C (p.Leu788Pro)
c.2128+5939T>C (n.2128+5939T>C)
n.2571T>C
n.2779T>C
c.1988T>C (p.Leu663Pro)
c.1013T>C (p.Leu338Pro)
c.1727T>C (p.Leu576Pro)
n.2523T>C
n.2731T>C
 gnomAD v4
1g.197427895T>GCA344038325CRB1c.2570T>G (p.Leu857Arg)
c.1451T>G (p.Leu484Arg)
c.713T>G (p.Leu238Arg)
c.2234T>G (p.Leu745Arg)
c.2363T>G (p.Leu788Arg)
c.2128+5939T>G (n.2128+5939T>G)
n.2571T>G
n.2779T>G
c.1988T>G (p.Leu663Arg)
c.1013T>G (p.Leu338Arg)
c.1727T>G (p.Leu576Arg)
n.2523T>G
n.2731T>G
 ClinVar dbSNP gnomAD v4
1g.197427895T=CA1218066443CRB1c.2570T= (p.Leu857=)
c.1451T= (p.Leu484=)
c.713T= (p.Leu238=)
c.2234T= (p.Leu745=)
c.2363T= (p.Leu788=)
c.2128+5939T= (n.2128+5939T=)
n.2571T=
n.2779T=
c.1988T= (p.Leu663=)
c.1013T= (p.Leu338=)
c.1727T= (p.Leu576=)
n.2523T=
n.2731T=
1g.197427895dupCA2573131447CRB1c.2570dup (p.Asn858LysfsTer?)
c.1451dup (p.Asn485LysfsTer?)
c.713dup (p.Asn239LysfsTer?)
c.2234dup (p.Asn746LysfsTer?)
c.2363dup (p.Asn789LysfsTer?)
c.2128+5939dup (n.2128+5939dup)
n.2571dup
n.2779dup
c.1988dup (p.Asn664LysfsTer?)
c.1013dup (p.Asn339LysfsTer?)
c.1727dup (p.Asn577LysfsTer?)
n.2523dup
n.2731dup
 ClinVar dbSNP
1g.197427896A>CCA422808932CRB1c.2571A>C (p.Leu857=)
c.1452A>C (p.Leu484=)
c.714A>C (p.Leu238=)
c.2235A>C (p.Leu745=)
c.2364A>C (p.Leu788=)
c.2128+5940A>C (n.2128+5940A>C)
n.2572A>C
n.2780A>C
c.1989A>C (p.Leu663=)
c.1014A>C (p.Leu338=)
c.1728A>C (p.Leu576=)
n.2524A>C
n.2732A>C
1g.197427896A>GCA422808935CRB1c.2571A>G (p.Leu857=)
c.1452A>G (p.Leu484=)
c.714A>G (p.Leu238=)
c.2235A>G (p.Leu745=)
c.2364A>G (p.Leu788=)
c.2128+5940A>G (n.2128+5940A>G)
n.2572A>G
n.2780A>G
c.1989A>G (p.Leu663=)
c.1014A>G (p.Leu338=)
c.1728A>G (p.Leu576=)
n.2524A>G
n.2732A>G
1g.197427896A>TCA422808933CRB1c.2571A>T (p.Leu857=)
c.1452A>T (p.Leu484=)
c.714A>T (p.Leu238=)
c.2235A>T (p.Leu745=)
c.2364A>T (p.Leu788=)
c.2128+5940A>T (n.2128+5940A>T)
n.2572A>T
n.2780A>T
c.1989A>T (p.Leu663=)
c.1014A>T (p.Leu338=)
c.1728A>T (p.Leu576=)
n.2524A>T
n.2732A>T
1g.197427897A=CA1218066445CRB1c.2572A= (p.Asn858=)
c.1453A= (p.Asn485=)
c.715A= (p.Asn239=)
c.2236A= (p.Asn746=)
c.2365A= (p.Asn789=)
c.2128+5941A= (n.2128+5941A=)
n.2573A=
n.2781A=
c.1990A= (p.Asn664=)
c.1015A= (p.Asn339=)
c.1729A= (p.Asn577=)
n.2525A=
n.2733A=
1g.197427897A>CCA344038331CRB1c.2572A>C (p.Asn858His)
c.1453A>C (p.Asn485His)
c.715A>C (p.Asn239His)
c.2236A>C (p.Asn746His)
c.2365A>C (p.Asn789His)
c.2128+5941A>C (n.2128+5941A>C)
n.2573A>C
n.2781A>C
c.1990A>C (p.Asn664His)
c.1015A>C (p.Asn339His)
c.1729A>C (p.Asn577His)
n.2525A>C
n.2733A>C
1g.197427897A>GCA344038327CRB1c.2572A>G (p.Asn858Asp)
c.1453A>G (p.Asn485Asp)
c.715A>G (p.Asn239Asp)
c.2236A>G (p.Asn746Asp)
c.2365A>G (p.Asn789Asp)
c.2128+5941A>G (n.2128+5941A>G)
n.2573A>G
n.2781A>G
c.1990A>G (p.Asn664Asp)
c.1015A>G (p.Asn339Asp)
c.1729A>G (p.Asn577Asp)
n.2525A>G
n.2733A>G
1g.197427897A>TCA344038329CRB1c.2572A>T (p.Asn858Tyr)
c.1453A>T (p.Asn485Tyr)
c.715A>T (p.Asn239Tyr)
c.2236A>T (p.Asn746Tyr)
c.2365A>T (p.Asn789Tyr)
c.2128+5941A>T (n.2128+5941A>T)
n.2573A>T
n.2781A>T
c.1990A>T (p.Asn664Tyr)
c.1015A>T (p.Asn339Tyr)
c.1729A>T (p.Asn577Tyr)
n.2525A>T
n.2733A>T
 dbSNP gnomAD v3 gnomAD v4
1g.197427898A>CCA344038333CRB1c.2573A>C (p.Asn858Thr)
c.1454A>C (p.Asn485Thr)
c.716A>C (p.Asn239Thr)
c.2237A>C (p.Asn746Thr)
c.2366A>C (p.Asn789Thr)
c.2128+5942A>C (n.2128+5942A>C)
n.2574A>C
n.2782A>C
c.1991A>C (p.Asn664Thr)
c.1016A>C (p.Asn339Thr)
c.1730A>C (p.Asn577Thr)
n.2526A>C
n.2734A>C
1g.197427898A>GCA344038335CRB1c.2573A>G (p.Asn858Ser)
c.1454A>G (p.Asn485Ser)
c.716A>G (p.Asn239Ser)
c.2237A>G (p.Asn746Ser)
c.2366A>G (p.Asn789Ser)
c.2128+5942A>G (n.2128+5942A>G)
n.2574A>G
n.2782A>G
c.1991A>G (p.Asn664Ser)
c.1016A>G (p.Asn339Ser)
c.1730A>G (p.Asn577Ser)
n.2526A>G
n.2734A>G
 ClinVar dbSNP gnomAD v4
1g.197427898A>TCA344038338CRB1c.2573A>T (p.Asn858Ile)
c.1454A>T (p.Asn485Ile)
c.716A>T (p.Asn239Ile)
c.2237A>T (p.Asn746Ile)
c.2366A>T (p.Asn789Ile)
c.2128+5942A>T (n.2128+5942A>T)
n.2574A>T
n.2782A>T
c.1991A>T (p.Asn664Ile)
c.1016A>T (p.Asn339Ile)
c.1730A>T (p.Asn577Ile)
n.2526A>T
n.2734A>T
1g.197427899C>ACA344038342CRB1c.2574C>A (p.Asn858Lys)
c.1455C>A (p.Asn485Lys)
c.717C>A (p.Asn239Lys)
c.2238C>A (p.Asn746Lys)
c.2367C>A (p.Asn789Lys)
c.2128+5943C>A (n.2128+5943C>A)
n.2575C>A
n.2783C>A
c.1992C>A (p.Asn664Lys)
c.1017C>A (p.Asn339Lys)
c.1731C>A (p.Asn577Lys)
n.2527C>A
n.2735C>A
1g.197427899C>GCA344038343CRB1c.2574C>G (p.Asn858Lys)
c.1455C>G (p.Asn485Lys)
c.717C>G (p.Asn239Lys)
c.2238C>G (p.Asn746Lys)
c.2367C>G (p.Asn789Lys)
c.2128+5943C>G (n.2128+5943C>G)
n.2575C>G
n.2783C>G
c.1992C>G (p.Asn664Lys)
c.1017C>G (p.Asn339Lys)
c.1731C>G (p.Asn577Lys)
n.2527C>G
n.2735C>G
1g.197427899C>TCA422808940CRB1c.2574C>T (p.Asn858=)
c.1455C>T (p.Asn485=)
c.717C>T (p.Asn239=)
c.2238C>T (p.Asn746=)
c.2367C>T (p.Asn789=)
c.2128+5943C>T (n.2128+5943C>T)
n.2575C>T
n.2783C>T
c.1992C>T (p.Asn664=)
c.1017C>T (p.Asn339=)
c.1731C>T (p.Asn577=)
n.2527C>T
n.2735C>T
 ClinVar dbSNP
1g.197427900A>CCA344038345CRB1c.2575A>C (p.Asn859His)
c.1456A>C (p.Asn486His)
c.718A>C (p.Asn240His)
c.2239A>C (p.Asn747His)
c.2368A>C (p.Asn790His)
c.2128+5944A>C (n.2128+5944A>C)
n.2576A>C
n.2784A>C
c.1993A>C (p.Asn665His)
c.1018A>C (p.Asn340His)
c.1732A>C (p.Asn578His)
n.2528A>C
n.2736A>C
1g.197427900A>GCA344038347CRB1c.2575A>G (p.Asn859Asp)
c.1456A>G (p.Asn486Asp)
c.718A>G (p.Asn240Asp)
c.2239A>G (p.Asn747Asp)
c.2368A>G (p.Asn790Asp)
c.2128+5944A>G (n.2128+5944A>G)
n.2576A>G
n.2784A>G
c.1993A>G (p.Asn665Asp)
c.1018A>G (p.Asn340Asp)
c.1732A>G (p.Asn578Asp)
n.2528A>G
n.2736A>G
1g.197427900A>TCA344038349CRB1c.2575A>T (p.Asn859Tyr)
c.1456A>T (p.Asn486Tyr)
c.718A>T (p.Asn240Tyr)
c.2239A>T (p.Asn747Tyr)
c.2368A>T (p.Asn790Tyr)
c.2128+5944A>T (n.2128+5944A>T)
n.2576A>T
n.2784A>T
c.1993A>T (p.Asn665Tyr)
c.1018A>T (p.Asn340Tyr)
c.1732A>T (p.Asn578Tyr)
n.2528A>T
n.2736A>T
1g.197427901A=CA1218066447CRB1c.2576A= (p.Asn859=)
c.1457A= (p.Asn486=)
c.719A= (p.Asn240=)
c.2240A= (p.Asn747=)
c.2369A= (p.Asn790=)
c.2128+5945A= (n.2128+5945A=)
n.2577A=
n.2785A=
c.1994A= (p.Asn665=)
c.1019A= (p.Asn340=)
c.1733A= (p.Asn578=)
n.2529A=
n.2737A=
1g.197427901A>CCA344038352CRB1c.2576A>C (p.Asn859Thr)
c.1457A>C (p.Asn486Thr)
c.719A>C (p.Asn240Thr)
c.2240A>C (p.Asn747Thr)
c.2369A>C (p.Asn790Thr)
c.2128+5945A>C (n.2128+5945A>C)
n.2577A>C
n.2785A>C
c.1994A>C (p.Asn665Thr)
c.1019A>C (p.Asn340Thr)
c.1733A>C (p.Asn578Thr)
n.2529A>C
n.2737A>C
1g.197427901A>GCA344038354CRB1c.2576A>G (p.Asn859Ser)
c.1457A>G (p.Asn486Ser)
c.719A>G (p.Asn240Ser)
c.2240A>G (p.Asn747Ser)
c.2369A>G (p.Asn790Ser)
c.2128+5945A>G (n.2128+5945A>G)
n.2577A>G
n.2785A>G
c.1994A>G (p.Asn665Ser)
c.1019A>G (p.Asn340Ser)
c.1733A>G (p.Asn578Ser)
n.2529A>G
n.2737A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197427901A>TCA344038356CRB1c.2576A>T (p.Asn859Ile)
c.1457A>T (p.Asn486Ile)
c.719A>T (p.Asn240Ile)
c.2240A>T (p.Asn747Ile)
c.2369A>T (p.Asn790Ile)
c.2128+5945A>T (n.2128+5945A>T)
n.2577A>T
n.2785A>T
c.1994A>T (p.Asn665Ile)
c.1019A>T (p.Asn340Ile)
c.1733A>T (p.Asn578Ile)
n.2529A>T
n.2737A>T
1g.197427901_197427902delinsACCA1218066449CRB1c.2576_2577delinsAC (p.Asn859=)
c.1457_1458delinsAC (p.Asn486=)
c.719_720delinsAC (p.Asn240=)
c.2240_2241delinsAC (p.Asn747=)
c.2369_2370delinsAC (p.Asn790=)
c.2128+5945_2128+5946delinsAC (n.2128+5945_2128+5946delinsAC)
n.2577_2578delinsAC
n.2785_2786delinsAC
c.1994_1995delinsAC (p.Asn665=)
c.1019_1020delinsAC (p.Asn340=)
c.1733_1734delinsAC (p.Asn578=)
n.2529_2530delinsAC
n.2737_2738delinsAC
1g.197427902C>ACA1312143CRB1c.2577C>A (p.Asn859Lys)
c.1458C>A (p.Asn486Lys)
c.720C>A (p.Asn240Lys)
c.2241C>A (p.Asn747Lys)
c.2370C>A (p.Asn790Lys)
c.2128+5946C>A (n.2128+5946C>A)
n.2578C>A
n.2786C>A
c.1995C>A (p.Asn665Lys)
c.1020C>A (p.Asn340Lys)
c.1734C>A (p.Asn578Lys)
n.2530C>A
n.2738C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427902C=CA1218066457CRB1c.2577C= (p.Asn859=)
c.1458C= (p.Asn486=)
c.720C= (p.Asn240=)
c.2241C= (p.Asn747=)
c.2370C= (p.Asn790=)
c.2128+5946C= (n.2128+5946C=)
n.2578C=
n.2786C=
c.1995C= (p.Asn665=)
c.1020C= (p.Asn340=)
c.1734C= (p.Asn578=)
n.2530C=
n.2738C=
1g.197427902C>GCA344038361CRB1c.2577C>G (p.Asn859Lys)
c.1458C>G (p.Asn486Lys)
c.720C>G (p.Asn240Lys)
c.2241C>G (p.Asn747Lys)
c.2370C>G (p.Asn790Lys)
c.2128+5946C>G (n.2128+5946C>G)
n.2578C>G
n.2786C>G
c.1995C>G (p.Asn665Lys)
c.1020C>G (p.Asn340Lys)
c.1734C>G (p.Asn578Lys)
n.2530C>G
n.2738C>G
1g.197427902C>TCA422808942CRB1c.2577C>T (p.Asn859=)
c.1458C>T (p.Asn486=)
c.720C>T (p.Asn240=)
c.2241C>T (p.Asn747=)
c.2370C>T (p.Asn790=)
c.2128+5946C>T (n.2128+5946C>T)
n.2578C>T
n.2786C>T
c.1995C>T (p.Asn665=)
c.1020C>T (p.Asn340=)
c.1734C>T (p.Asn578=)
n.2530C>T
n.2738C>T
 gnomAD v4
1g.197427903delCA528535358CRB1c.2578del (p.Gln860LysfsTer22)
c.1459del (p.Gln487LysfsTer22)
c.721del (p.Gln241LysfsTer22)
c.2242del (p.Gln748LysfsTer22)
c.2371del (p.Gln791LysfsTer22)
c.2128+5947del (n.2128+5947del)
n.2579del
n.2787del
c.1996del (p.Gln666LysfsTer22)
c.1021del (p.Gln341LysfsTer22)
c.1735del (p.Gln579LysfsTer22)
n.2531del
n.2739del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197427903C>ACA344038364CRB1c.2578C>A (p.Gln860Lys)
c.1459C>A (p.Gln487Lys)
c.721C>A (p.Gln241Lys)
c.2242C>A (p.Gln748Lys)
c.2371C>A (p.Gln791Lys)
c.2128+5947C>A (n.2128+5947C>A)
n.2579C>A
n.2787C>A
c.1996C>A (p.Gln666Lys)
c.1021C>A (p.Gln341Lys)
c.1735C>A (p.Gln579Lys)
n.2531C>A
n.2739C>A
 dbSNP gnomAD v2 gnomAD v4
1g.197427903C=CA1218066460CRB1c.2578C= (p.Gln860=)
c.1459C= (p.Gln487=)
c.721C= (p.Gln241=)
c.2242C= (p.Gln748=)
c.2371C= (p.Gln791=)
c.2128+5947C= (n.2128+5947C=)
n.2579C=
n.2787C=
c.1996C= (p.Gln666=)
c.1021C= (p.Gln341=)
c.1735C= (p.Gln579=)
n.2531C=
n.2739C=
1g.197427903C>GCA344038366CRB1c.2578C>G (p.Gln860Glu)
c.1459C>G (p.Gln487Glu)
c.721C>G (p.Gln241Glu)
c.2242C>G (p.Gln748Glu)
c.2371C>G (p.Gln791Glu)
c.2128+5947C>G (n.2128+5947C>G)
n.2579C>G
n.2787C>G
c.1996C>G (p.Gln666Glu)
c.1021C>G (p.Gln341Glu)
c.1735C>G (p.Gln579Glu)
n.2531C>G
n.2739C>G
1g.197427903C>TCA344038368CRB1c.2578C>T (p.Gln860Ter)
c.1459C>T (p.Gln487Ter)
c.721C>T (p.Gln241Ter)
c.2242C>T (p.Gln748Ter)
c.2371C>T (p.Gln791Ter)
c.2128+5947C>T (n.2128+5947C>T)
n.2579C>T
n.2787C>T
c.1996C>T (p.Gln666Ter)
c.1021C>T (p.Gln341Ter)
c.1735C>T (p.Gln579Ter)
n.2531C>T
n.2739C>T
 dbSNP
1g.197427904A=CA1218066462CRB1c.2579A= (p.Gln860=)
c.1460A= (p.Gln487=)
c.722A= (p.Gln241=)
c.2243A= (p.Gln748=)
c.2372A= (p.Gln791=)
c.2128+5948A= (n.2128+5948A=)
n.2580A=
n.2788A=
c.1997A= (p.Gln666=)
c.1022A= (p.Gln341=)
c.1736A= (p.Gln579=)
n.2532A=
n.2740A=
1g.197427904A>CCA344038370CRB1c.2579A>C (p.Gln860Pro)
c.1460A>C (p.Gln487Pro)
c.722A>C (p.Gln241Pro)
c.2243A>C (p.Gln748Pro)
c.2372A>C (p.Gln791Pro)
c.2128+5948A>C (n.2128+5948A>C)
n.2580A>C
n.2788A>C
c.1997A>C (p.Gln666Pro)
c.1022A>C (p.Gln341Pro)
c.1736A>C (p.Gln579Pro)
n.2532A>C
n.2740A>C
1g.197427904A>GCA344038371CRB1c.2579A>G (p.Gln860Arg)
c.1460A>G (p.Gln487Arg)
c.722A>G (p.Gln241Arg)
c.2243A>G (p.Gln748Arg)
c.2372A>G (p.Gln791Arg)
c.2128+5948A>G (n.2128+5948A>G)
n.2580A>G
n.2788A>G
c.1997A>G (p.Gln666Arg)
c.1022A>G (p.Gln341Arg)
c.1736A>G (p.Gln579Arg)
n.2532A>G
n.2740A>G
 dbSNP gnomAD v2 gnomAD v4
1g.197427904A>TCA344038373CRB1c.2579A>T (p.Gln860Leu)
c.1460A>T (p.Gln487Leu)
c.722A>T (p.Gln241Leu)
c.2243A>T (p.Gln748Leu)
c.2372A>T (p.Gln791Leu)
c.2128+5948A>T (n.2128+5948A>T)
n.2580A>T
n.2788A>T
c.1997A>T (p.Gln666Leu)
c.1022A>T (p.Gln341Leu)
c.1736A>T (p.Gln579Leu)
n.2532A>T
n.2740A>T
1g.197427907delCA2586964527CRB1c.2582del (p.Asn861IlefsTer21)
c.1463del (p.Asn488IlefsTer21)
c.725del (p.Asn242IlefsTer21)
c.2246del (p.Asn749IlefsTer21)
c.2375del (p.Asn792IlefsTer21)
c.2128+5951del (n.2128+5951del)
n.2583del
n.2791del
c.2000del (p.Asn667IlefsTer21)
c.1025del (p.Asn342IlefsTer21)
c.1739del (p.Asn580IlefsTer21)
n.2535del
n.2743del
 ClinVar
1g.197427905A=CA1146911928CRB1c.2580A= (p.Gln860=)
c.1461A= (p.Gln487=)
c.723A= (p.Gln241=)
c.2244A= (p.Gln748=)
c.2373A= (p.Gln791=)
c.2128+5949A= (n.2128+5949A=)
n.2581A=
n.2789A=
c.1998A= (p.Gln666=)
c.1023A= (p.Gln341=)
c.1737A= (p.Gln579=)
n.2533A=
n.2741A=
1g.197427905A>CCA344038375CRB1c.2580A>C (p.Gln860His)
c.1461A>C (p.Gln487His)
c.723A>C (p.Gln241His)
c.2244A>C (p.Gln748His)
c.2373A>C (p.Gln791His)
c.2128+5949A>C (n.2128+5949A>C)
n.2581A>C
n.2789A>C
c.1998A>C (p.Gln666His)
c.1023A>C (p.Gln341His)
c.1737A>C (p.Gln579His)
n.2533A>C
n.2741A>C
1g.197427905A>GCA1312144CRB1c.2580A>G (p.Gln860=)
c.1461A>G (p.Gln487=)
c.723A>G (p.Gln241=)
c.2244A>G (p.Gln748=)
c.2373A>G (p.Gln791=)
c.2128+5949A>G (n.2128+5949A>G)
n.2581A>G
n.2789A>G
c.1998A>G (p.Gln666=)
c.1023A>G (p.Gln341=)
c.1737A>G (p.Gln579=)
n.2533A>G
n.2741A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427905A>TCA344038379CRB1c.2580A>T (p.Gln860His)
c.1461A>T (p.Gln487His)
c.723A>T (p.Gln241His)
c.2244A>T (p.Gln748His)
c.2373A>T (p.Gln791His)
c.2128+5949A>T (n.2128+5949A>T)
n.2581A>T
n.2789A>T
c.1998A>T (p.Gln666His)
c.1023A>T (p.Gln341His)
c.1737A>T (p.Gln579His)
n.2533A>T
n.2741A>T
1g.197427906A=CA1218066467CRB1c.2581A= (p.Asn861=)
c.1462A= (p.Asn488=)
c.724A= (p.Asn242=)
c.2245A= (p.Asn749=)
c.2374A= (p.Asn792=)
c.2128+5950A= (n.2128+5950A=)
n.2582A=
n.2790A=
c.1999A= (p.Asn667=)
c.1024A= (p.Asn342=)
c.1738A= (p.Asn580=)
n.2534A=
n.2742A=
1g.197427906A>CCA344038380CRB1c.2581A>C (p.Asn861His)
c.1462A>C (p.Asn488His)
c.724A>C (p.Asn242His)
c.2245A>C (p.Asn749His)
c.2374A>C (p.Asn792His)
c.2128+5950A>C (n.2128+5950A>C)
n.2582A>C
n.2790A>C
c.1999A>C (p.Asn667His)
c.1024A>C (p.Asn342His)
c.1738A>C (p.Asn580His)
n.2534A>C
n.2742A>C
 dbSNP gnomAD v2
1g.197427906A>GCA344038381CRB1c.2581A>G (p.Asn861Asp)
c.1462A>G (p.Asn488Asp)
c.724A>G (p.Asn242Asp)
c.2245A>G (p.Asn749Asp)
c.2374A>G (p.Asn792Asp)
c.2128+5950A>G (n.2128+5950A>G)
n.2582A>G
n.2790A>G
c.1999A>G (p.Asn667Asp)
c.1024A>G (p.Asn342Asp)
c.1738A>G (p.Asn580Asp)
n.2534A>G
n.2742A>G
1g.197427906A>TCA344038383CRB1c.2581A>T (p.Asn861Tyr)
c.1462A>T (p.Asn488Tyr)
c.724A>T (p.Asn242Tyr)
c.2245A>T (p.Asn749Tyr)
c.2374A>T (p.Asn792Tyr)
c.2128+5950A>T (n.2128+5950A>T)
n.2582A>T
n.2790A>T
c.1999A>T (p.Asn667Tyr)
c.1024A>T (p.Asn342Tyr)
c.1738A>T (p.Asn580Tyr)
n.2534A>T
n.2742A>T
1g.197427907A=CA1218066471CRB1c.2582A= (p.Asn861=)
c.1463A= (p.Asn488=)
c.725A= (p.Asn242=)
c.2246A= (p.Asn749=)
c.2375A= (p.Asn792=)
c.2128+5951A= (n.2128+5951A=)
n.2583A=
n.2791A=
c.2000A= (p.Asn667=)
c.1025A= (p.Asn342=)
c.1739A= (p.Asn580=)
n.2535A=
n.2743A=
1g.197427907A>CCA344038389CRB1c.2582A>C (p.Asn861Thr)
c.1463A>C (p.Asn488Thr)
c.725A>C (p.Asn242Thr)
c.2246A>C (p.Asn749Thr)
c.2375A>C (p.Asn792Thr)
c.2128+5951A>C (n.2128+5951A>C)
n.2583A>C
n.2791A>C
c.2000A>C (p.Asn667Thr)
c.1025A>C (p.Asn342Thr)
c.1739A>C (p.Asn580Thr)
n.2535A>C
n.2743A>C
 ClinVar dbSNP gnomAD v4
1g.197427907A>GCA344038387CRB1c.2582A>G (p.Asn861Ser)
c.1463A>G (p.Asn488Ser)
c.725A>G (p.Asn242Ser)
c.2246A>G (p.Asn749Ser)
c.2375A>G (p.Asn792Ser)
c.2128+5951A>G (n.2128+5951A>G)
n.2583A>G
n.2791A>G
c.2000A>G (p.Asn667Ser)
c.1025A>G (p.Asn342Ser)
c.1739A>G (p.Asn580Ser)
n.2535A>G
n.2743A>G
1g.197427907A>TCA344038385CRB1c.2582A>T (p.Asn861Ile)
c.1463A>T (p.Asn488Ile)
c.725A>T (p.Asn242Ile)
c.2246A>T (p.Asn749Ile)
c.2375A>T (p.Asn792Ile)
c.2128+5951A>T (n.2128+5951A>T)
n.2583A>T
n.2791A>T
c.2000A>T (p.Asn667Ile)
c.1025A>T (p.Asn342Ile)
c.1739A>T (p.Asn580Ile)
n.2535A>T
n.2743A>T
1g.197427907_197427921delCA2747247683CRB1c.2582_2596del (p.Asn861_Pro866delinsThr)
c.1463_1477del (p.Asn488_Pro493delinsThr)
c.725_739del (p.Asn242_Pro247delinsThr)
c.2246_2260del (p.Asn749_Pro754delinsThr)
c.2375_2389del (p.Asn792_Pro797delinsThr)
c.2128+5951_2128+5965del (n.2128+5951_2128+5965del)
n.2583_2597del
n.2791_2805del
c.2000_2014del (p.Asn667_Pro672delinsThr)
c.1025_1039del (p.Asn342_Pro347delinsThr)
c.1739_1753del (p.Asn580_Pro585delinsThr)
n.2535_2549del
n.2743_2757del
1g.197427908T>ACA344038391CRB1c.2583T>A (p.Asn861Lys)
c.1464T>A (p.Asn488Lys)
c.726T>A (p.Asn242Lys)
c.2247T>A (p.Asn749Lys)
c.2376T>A (p.Asn792Lys)
c.2128+5952T>A (n.2128+5952T>A)
n.2584T>A
n.2792T>A
c.2001T>A (p.Asn667Lys)
c.1026T>A (p.Asn342Lys)
c.1740T>A (p.Asn580Lys)
n.2536T>A
n.2744T>A
1g.197427908T>CCA422808944CRB1c.2583T>C (p.Asn861=)
c.1464T>C (p.Asn488=)
c.726T>C (p.Asn242=)
c.2247T>C (p.Asn749=)
c.2376T>C (p.Asn792=)
c.2128+5952T>C (n.2128+5952T>C)
n.2584T>C
n.2792T>C
c.2001T>C (p.Asn667=)
c.1026T>C (p.Asn342=)
c.1740T>C (p.Asn580=)
n.2536T>C
n.2744T>C
 ClinVar dbSNP
1g.197427908T>GCA344038393CRB1c.2583T>G (p.Asn861Lys)
c.1464T>G (p.Asn488Lys)
c.726T>G (p.Asn242Lys)
c.2247T>G (p.Asn749Lys)
c.2376T>G (p.Asn792Lys)
c.2128+5952T>G (n.2128+5952T>G)
n.2584T>G
n.2792T>G
c.2001T>G (p.Asn667Lys)
c.1026T>G (p.Asn342Lys)
c.1740T>G (p.Asn580Lys)
n.2536T>G
n.2744T>G
1g.197427909C>ACA344038396CRB1c.2584C>A (p.Leu862Met)
c.1465C>A (p.Leu489Met)
c.727C>A (p.Leu243Met)
c.2248C>A (p.Leu750Met)
c.2377C>A (p.Leu793Met)
c.2128+5953C>A (n.2128+5953C>A)
n.2585C>A
n.2793C>A
c.2002C>A (p.Leu668Met)
c.1027C>A (p.Leu343Met)
c.1741C>A (p.Leu581Met)
n.2537C>A
n.2745C>A
1g.197427909C=CA1218066474CRB1c.2584C= (p.Leu862=)
c.1465C= (p.Leu489=)
c.727C= (p.Leu243=)
c.2248C= (p.Leu750=)
c.2377C= (p.Leu793=)
c.2128+5953C= (n.2128+5953C=)
n.2585C=
n.2793C=
c.2002C= (p.Leu668=)
c.1027C= (p.Leu343=)
c.1741C= (p.Leu581=)
n.2537C=
n.2745C=
1g.197427909C>GCA344038398CRB1c.2584C>G (p.Leu862Val)
c.1465C>G (p.Leu489Val)
c.727C>G (p.Leu243Val)
c.2248C>G (p.Leu750Val)
c.2377C>G (p.Leu793Val)
c.2128+5953C>G (n.2128+5953C>G)
n.2585C>G
n.2793C>G
c.2002C>G (p.Leu668Val)
c.1027C>G (p.Leu343Val)
c.1741C>G (p.Leu581Val)
n.2537C>G
n.2745C>G
 dbSNP
1g.197427909C>TCA422808948CRB1c.2584C>T (p.Leu862=)
c.1465C>T (p.Leu489=)
c.727C>T (p.Leu243=)
c.2248C>T (p.Leu750=)
c.2377C>T (p.Leu793=)
c.2128+5953C>T (n.2128+5953C>T)
n.2585C>T
n.2793C>T
c.2002C>T (p.Leu668=)
c.1027C>T (p.Leu343=)
c.1741C>T (p.Leu581=)
n.2537C>T
n.2745C>T
 gnomAD v4 COSMIC COSMIC
1g.197427910T>ACA344038401CRB1c.2585T>A (p.Leu862Gln)
c.1466T>A (p.Leu489Gln)
c.728T>A (p.Leu243Gln)
c.2249T>A (p.Leu750Gln)
c.2378T>A (p.Leu793Gln)
c.2128+5954T>A (n.2128+5954T>A)
n.2586T>A
n.2794T>A
c.2003T>A (p.Leu668Gln)
c.1028T>A (p.Leu343Gln)
c.1742T>A (p.Leu581Gln)
n.2538T>A
n.2746T>A
1g.197427910T>CCA344038403CRB1c.2585T>C (p.Leu862Pro)
c.1466T>C (p.Leu489Pro)
c.728T>C (p.Leu243Pro)
c.2249T>C (p.Leu750Pro)
c.2378T>C (p.Leu793Pro)
c.2128+5954T>C (n.2128+5954T>C)
n.2586T>C
n.2794T>C
c.2003T>C (p.Leu668Pro)
c.1028T>C (p.Leu343Pro)
c.1742T>C (p.Leu581Pro)
n.2538T>C
n.2746T>C
1g.197427910T>GCA344038404CRB1c.2585T>G (p.Leu862Arg)
c.1466T>G (p.Leu489Arg)
c.728T>G (p.Leu243Arg)
c.2249T>G (p.Leu750Arg)
c.2378T>G (p.Leu793Arg)
c.2128+5954T>G (n.2128+5954T>G)
n.2586T>G
n.2794T>G
c.2003T>G (p.Leu668Arg)
c.1028T>G (p.Leu343Arg)
c.1742T>G (p.Leu581Arg)
n.2538T>G
n.2746T>G
 ClinVar dbSNP
1g.197427910T=CA1218066475CRB1c.2585T= (p.Leu862=)
c.1466T= (p.Leu489=)
c.728T= (p.Leu243=)
c.2249T= (p.Leu750=)
c.2378T= (p.Leu793=)
c.2128+5954T= (n.2128+5954T=)
n.2586T=
n.2794T=
c.2003T= (p.Leu668=)
c.1028T= (p.Leu343=)
c.1742T= (p.Leu581=)
n.2538T=
n.2746T=
1g.197427911G>ACA422808949CRB1c.2586G>A (p.Leu862=)
c.1467G>A (p.Leu489=)
c.729G>A (p.Leu243=)
c.2250G>A (p.Leu750=)
c.2379G>A (p.Leu793=)
c.2128+5955G>A (n.2128+5955G>A)
n.2587G>A
n.2795G>A
c.2004G>A (p.Leu668=)
c.1029G>A (p.Leu343=)
c.1743G>A (p.Leu581=)
n.2539G>A
n.2747G>A
1g.197427911G>CCA422808950CRB1c.2586G>C (p.Leu862=)
c.1467G>C (p.Leu489=)
c.729G>C (p.Leu243=)
c.2250G>C (p.Leu750=)
c.2379G>C (p.Leu793=)
c.2128+5955G>C (n.2128+5955G>C)
n.2587G>C
n.2795G>C
c.2004G>C (p.Leu668=)
c.1029G>C (p.Leu343=)
c.1743G>C (p.Leu581=)
n.2539G>C
n.2747G>C
1g.197427911G>TCA422808951CRB1c.2586G>T (p.Leu862=)
c.1467G>T (p.Leu489=)
c.729G>T (p.Leu243=)
c.2250G>T (p.Leu750=)
c.2379G>T (p.Leu793=)
c.2128+5955G>T (n.2128+5955G>T)
n.2587G>T
n.2795G>T
c.2004G>T (p.Leu668=)
c.1029G>T (p.Leu343=)
c.1743G>T (p.Leu581=)
n.2539G>T
n.2747G>T
1g.197427912G>ACA344038406CRB1c.2587G>A (p.Glu863Lys)
c.1468G>A (p.Glu490Lys)
c.730G>A (p.Glu244Lys)
c.2251G>A (p.Glu751Lys)
c.2380G>A (p.Glu794Lys)
c.2128+5956G>A (n.2128+5956G>A)
n.2588G>A
n.2796G>A
c.2005G>A (p.Glu669Lys)
c.1030G>A (p.Glu344Lys)
c.1744G>A (p.Glu582Lys)
n.2540G>A
n.2748G>A
 COSMIC COSMIC
1g.197427912G>CCA344038407CRB1c.2587G>C (p.Glu863Gln)
c.1468G>C (p.Glu490Gln)
c.730G>C (p.Glu244Gln)
c.2251G>C (p.Glu751Gln)
c.2380G>C (p.Glu794Gln)
c.2128+5956G>C (n.2128+5956G>C)
n.2588G>C
n.2796G>C
c.2005G>C (p.Glu669Gln)
c.1030G>C (p.Glu344Gln)
c.1744G>C (p.Glu582Gln)
n.2540G>C
n.2748G>C
1g.197427912G>TCA344038408CRB1c.2587G>T (p.Glu863Ter)
c.1468G>T (p.Glu490Ter)
c.730G>T (p.Glu244Ter)
c.2251G>T (p.Glu751Ter)
c.2380G>T (p.Glu794Ter)
c.2128+5956G>T (n.2128+5956G>T)
n.2588G>T
n.2796G>T
c.2005G>T (p.Glu669Ter)
c.1030G>T (p.Glu344Ter)
c.1744G>T (p.Glu582Ter)
n.2540G>T
n.2748G>T
 ClinVar dbSNP
1g.197427912_197427918delCA2649670219CRB1c.2587_2593del (p.Glu863PhefsTer17)
c.1468_1474del (p.Glu490PhefsTer17)
c.730_736del (p.Glu244PhefsTer17)
c.2251_2257del (p.Glu751PhefsTer17)
c.2380_2386del (p.Glu794PhefsTer17)
c.2128+5956_2128+5962del (n.2128+5956_2128+5962del)
n.2588_2594del
n.2796_2802del
c.2005_2011del (p.Glu669PhefsTer17)
c.1030_1036del (p.Glu344PhefsTer17)
c.1744_1750del (p.Glu582PhefsTer17)
n.2540_2546del
n.2748_2754del
 gnomAD v4
1g.197427913A>CCA344038411CRB1c.2588A>C (p.Glu863Ala)
c.1469A>C (p.Glu490Ala)
c.731A>C (p.Glu244Ala)
c.2252A>C (p.Glu751Ala)
c.2381A>C (p.Glu794Ala)
c.2128+5957A>C (n.2128+5957A>C)
n.2589A>C
n.2797A>C
c.2006A>C (p.Glu669Ala)
c.1031A>C (p.Glu344Ala)
c.1745A>C (p.Glu582Ala)
n.2541A>C
n.2749A>C
1g.197427913A>GCA344038413CRB1c.2588A>G (p.Glu863Gly)
c.1469A>G (p.Glu490Gly)
c.731A>G (p.Glu244Gly)
c.2252A>G (p.Glu751Gly)
c.2381A>G (p.Glu794Gly)
c.2128+5957A>G (n.2128+5957A>G)
n.2589A>G
n.2797A>G
c.2006A>G (p.Glu669Gly)
c.1031A>G (p.Glu344Gly)
c.1745A>G (p.Glu582Gly)
n.2541A>G
n.2749A>G
1g.197427913A>TCA344038417CRB1c.2588A>T (p.Glu863Val)
c.1469A>T (p.Glu490Val)
c.731A>T (p.Glu244Val)
c.2252A>T (p.Glu751Val)
c.2381A>T (p.Glu794Val)
c.2128+5957A>T (n.2128+5957A>T)
n.2589A>T
n.2797A>T
c.2006A>T (p.Glu669Val)
c.1031A>T (p.Glu344Val)
c.1745A>T (p.Glu582Val)
n.2541A>T
n.2749A>T
1g.197427914A>CCA344038419CRB1c.2589A>C (p.Glu863Asp)
c.1470A>C (p.Glu490Asp)
c.732A>C (p.Glu244Asp)
c.2253A>C (p.Glu751Asp)
c.2382A>C (p.Glu794Asp)
c.2128+5958A>C (n.2128+5958A>C)
n.2590A>C
n.2798A>C
c.2007A>C (p.Glu669Asp)
c.1032A>C (p.Glu344Asp)
c.1746A>C (p.Glu582Asp)
n.2542A>C
n.2750A>C
1g.197427914A>GCA422808955CRB1c.2589A>G (p.Glu863=)
c.1470A>G (p.Glu490=)
c.732A>G (p.Glu244=)
c.2253A>G (p.Glu751=)
c.2382A>G (p.Glu794=)
c.2128+5958A>G (n.2128+5958A>G)
n.2590A>G
n.2798A>G
c.2007A>G (p.Glu669=)
c.1032A>G (p.Glu344=)
c.1746A>G (p.Glu582=)
n.2542A>G
n.2750A>G
1g.197427914A>TCA344038420CRB1c.2589A>T (p.Glu863Asp)
c.1470A>T (p.Glu490Asp)
c.732A>T (p.Glu244Asp)
c.2253A>T (p.Glu751Asp)
c.2382A>T (p.Glu794Asp)
c.2128+5958A>T (n.2128+5958A>T)
n.2590A>T
n.2798A>T
c.2007A>T (p.Glu669Asp)
c.1032A>T (p.Glu344Asp)
c.1746A>T (p.Glu582Asp)
n.2542A>T
n.2750A>T
1g.197427915T>ACA344038423CRB1c.2590T>A (p.Phe864Ile)
c.1471T>A (p.Phe491Ile)
c.733T>A (p.Phe245Ile)
c.2254T>A (p.Phe752Ile)
c.2383T>A (p.Phe795Ile)
c.2128+5959T>A (n.2128+5959T>A)
n.2591T>A
n.2799T>A
c.2008T>A (p.Phe670Ile)
c.1033T>A (p.Phe345Ile)
c.1747T>A (p.Phe583Ile)
n.2543T>A
n.2751T>A
1g.197427915T>CCA344038426CRB1c.2590T>C (p.Phe864Leu)
c.1471T>C (p.Phe491Leu)
c.733T>C (p.Phe245Leu)
c.2254T>C (p.Phe752Leu)
c.2383T>C (p.Phe795Leu)
c.2128+5959T>C (n.2128+5959T>C)
n.2591T>C
n.2799T>C
c.2008T>C (p.Phe670Leu)
c.1033T>C (p.Phe345Leu)
c.1747T>C (p.Phe583Leu)
n.2543T>C
n.2751T>C
1g.197427915T>GCA344038424CRB1c.2590T>G (p.Phe864Val)
c.1471T>G (p.Phe491Val)
c.733T>G (p.Phe245Val)
c.2254T>G (p.Phe752Val)
c.2383T>G (p.Phe795Val)
c.2128+5959T>G (n.2128+5959T>G)
n.2591T>G
n.2799T>G
c.2008T>G (p.Phe670Val)
c.1033T>G (p.Phe345Val)
c.1747T>G (p.Phe583Val)
n.2543T>G
n.2751T>G
1g.197427916T>ACA344038428CRB1c.2591T>A (p.Phe864Tyr)
c.1472T>A (p.Phe491Tyr)
c.734T>A (p.Phe245Tyr)
c.2255T>A (p.Phe752Tyr)
c.2384T>A (p.Phe795Tyr)
c.2128+5960T>A (n.2128+5960T>A)
n.2592T>A
n.2800T>A
c.2009T>A (p.Phe670Tyr)
c.1034T>A (p.Phe345Tyr)
c.1748T>A (p.Phe583Tyr)
n.2544T>A
n.2752T>A
1g.197427916T>CCA344038431CRB1c.2591T>C (p.Phe864Ser)
c.1472T>C (p.Phe491Ser)
c.734T>C (p.Phe245Ser)
c.2255T>C (p.Phe752Ser)
c.2384T>C (p.Phe795Ser)
c.2128+5960T>C (n.2128+5960T>C)
n.2592T>C
n.2800T>C
c.2009T>C (p.Phe670Ser)
c.1034T>C (p.Phe345Ser)
c.1748T>C (p.Phe583Ser)
n.2544T>C
n.2752T>C
1g.197427916T>GCA344038430CRB1c.2591T>G (p.Phe864Cys)
c.1472T>G (p.Phe491Cys)
c.734T>G (p.Phe245Cys)
c.2255T>G (p.Phe752Cys)
c.2384T>G (p.Phe795Cys)
c.2128+5960T>G (n.2128+5960T>G)
n.2592T>G
n.2800T>G
c.2009T>G (p.Phe670Cys)
c.1034T>G (p.Phe345Cys)
c.1748T>G (p.Phe583Cys)
n.2544T>G
n.2752T>G
1g.197427917C>ACA35901135CRB1c.2592C>A (p.Phe864Leu)
c.1473C>A (p.Phe491Leu)
c.735C>A (p.Phe245Leu)
c.2256C>A (p.Phe752Leu)
c.2385C>A (p.Phe795Leu)
c.2128+5961C>A (n.2128+5961C>A)
n.2593C>A
n.2801C>A
c.2010C>A (p.Phe670Leu)
c.1035C>A (p.Phe345Leu)
c.1749C>A (p.Phe583Leu)
n.2545C>A
n.2753C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.197427917C=CA1218066477CRB1c.2592C= (p.Phe864=)
c.1473C= (p.Phe491=)
c.735C= (p.Phe245=)
c.2256C= (p.Phe752=)
c.2385C= (p.Phe795=)
c.2128+5961C= (n.2128+5961C=)
n.2593C=
n.2801C=
c.2010C= (p.Phe670=)
c.1035C= (p.Phe345=)
c.1749C= (p.Phe583=)
n.2545C=
n.2753C=
1g.197427917C>GCA344038434CRB1c.2592C>G (p.Phe864Leu)
c.1473C>G (p.Phe491Leu)
c.735C>G (p.Phe245Leu)
c.2256C>G (p.Phe752Leu)
c.2385C>G (p.Phe795Leu)
c.2128+5961C>G (n.2128+5961C>G)
n.2593C>G
n.2801C>G
c.2010C>G (p.Phe670Leu)
c.1035C>G (p.Phe345Leu)
c.1749C>G (p.Phe583Leu)
n.2545C>G
n.2753C>G
1g.197427917C>TCA422808958CRB1c.2592C>T (p.Phe864=)
c.1473C>T (p.Phe491=)
c.735C>T (p.Phe245=)
c.2256C>T (p.Phe752=)
c.2385C>T (p.Phe795=)
c.2128+5961C>T (n.2128+5961C>T)
n.2593C>T
n.2801C>T
c.2010C>T (p.Phe670=)
c.1035C>T (p.Phe345=)
c.1749C>T (p.Phe583=)
n.2545C>T
n.2753C>T
 gnomAD v4 COSMIC
1g.197427918T>ACA344038438CRB1c.2593T>A (p.Phe865Ile)
c.1474T>A (p.Phe492Ile)
c.736T>A (p.Phe246Ile)
c.2257T>A (p.Phe753Ile)
c.2386T>A (p.Phe796Ile)
c.2128+5962T>A (n.2128+5962T>A)
n.2594T>A
n.2802T>A
c.2011T>A (p.Phe671Ile)
c.1036T>A (p.Phe346Ile)
c.1750T>A (p.Phe584Ile)
n.2546T>A
n.2754T>A
1g.197427918T>CCA344038439CRB1c.2593T>C (p.Phe865Leu)
c.1474T>C (p.Phe492Leu)
c.736T>C (p.Phe246Leu)
c.2257T>C (p.Phe753Leu)
c.2386T>C (p.Phe796Leu)
c.2128+5962T>C (n.2128+5962T>C)
n.2594T>C
n.2802T>C
c.2011T>C (p.Phe671Leu)
c.1036T>C (p.Phe346Leu)
c.1750T>C (p.Phe584Leu)
n.2546T>C
n.2754T>C
1g.197427918T>GCA344038442CRB1c.2593T>G (p.Phe865Val)
c.1474T>G (p.Phe492Val)
c.736T>G (p.Phe246Val)
c.2257T>G (p.Phe753Val)
c.2386T>G (p.Phe796Val)
c.2128+5962T>G (n.2128+5962T>G)
n.2594T>G
n.2802T>G
c.2011T>G (p.Phe671Val)
c.1036T>G (p.Phe346Val)
c.1750T>G (p.Phe584Val)
n.2546T>G
n.2754T>G
1g.197427919T>ACA344038444CRB1c.2594T>A (p.Phe865Tyr)
c.1475T>A (p.Phe492Tyr)
c.737T>A (p.Phe246Tyr)
c.2258T>A (p.Phe753Tyr)
c.2387T>A (p.Phe796Tyr)
c.2128+5963T>A (n.2128+5963T>A)
n.2595T>A
n.2803T>A
c.2012T>A (p.Phe671Tyr)
c.1037T>A (p.Phe346Tyr)
c.1751T>A (p.Phe584Tyr)
n.2547T>A
n.2755T>A
1g.197427919T>CCA344038446CRB1c.2594T>C (p.Phe865Ser)
c.1475T>C (p.Phe492Ser)
c.737T>C (p.Phe246Ser)
c.2258T>C (p.Phe753Ser)
c.2387T>C (p.Phe796Ser)
c.2128+5963T>C (n.2128+5963T>C)
n.2595T>C
n.2803T>C
c.2012T>C (p.Phe671Ser)
c.1037T>C (p.Phe346Ser)
c.1751T>C (p.Phe584Ser)
n.2547T>C
n.2755T>C
1g.197427919T>GCA344038447CRB1c.2594T>G (p.Phe865Cys)
c.1475T>G (p.Phe492Cys)
c.737T>G (p.Phe246Cys)
c.2258T>G (p.Phe753Cys)
c.2387T>G (p.Phe796Cys)
c.2128+5963T>G (n.2128+5963T>G)
n.2595T>G
n.2803T>G
c.2012T>G (p.Phe671Cys)
c.1037T>G (p.Phe346Cys)
c.1751T>G (p.Phe584Cys)
n.2547T>G
n.2755T>G
1g.197427920T>ACA344038448CRB1c.2595T>A (p.Phe865Leu)
c.1476T>A (p.Phe492Leu)
c.738T>A (p.Phe246Leu)
c.2259T>A (p.Phe753Leu)
c.2388T>A (p.Phe796Leu)
c.2128+5964T>A (n.2128+5964T>A)
n.2596T>A
n.2804T>A
c.2013T>A (p.Phe671Leu)
c.1038T>A (p.Phe346Leu)
c.1752T>A (p.Phe584Leu)
n.2548T>A
n.2756T>A
1g.197427920T>CCA422808959CRB1c.2595T>C (p.Phe865=)
c.1476T>C (p.Phe492=)
c.738T>C (p.Phe246=)
c.2259T>C (p.Phe753=)
c.2388T>C (p.Phe796=)
c.2128+5964T>C (n.2128+5964T>C)
n.2596T>C
n.2804T>C
c.2013T>C (p.Phe671=)
c.1038T>C (p.Phe346=)
c.1752T>C (p.Phe584=)
n.2548T>C
n.2756T>C
 gnomAD v4
1g.197427920T>GCA344038450CRB1c.2595T>G (p.Phe865Leu)
c.1476T>G (p.Phe492Leu)
c.738T>G (p.Phe246Leu)
c.2259T>G (p.Phe753Leu)
c.2388T>G (p.Phe796Leu)
c.2128+5964T>G (n.2128+5964T>G)
n.2596T>G
n.2804T>G
c.2013T>G (p.Phe671Leu)
c.1038T>G (p.Phe346Leu)
c.1752T>G (p.Phe584Leu)
n.2548T>G
n.2756T>G
1g.197427921C>ACA344038457CRB1c.2596C>A (p.Pro866Thr)
c.1477C>A (p.Pro493Thr)
c.739C>A (p.Pro247Thr)
c.2260C>A (p.Pro754Thr)
c.2389C>A (p.Pro797Thr)
c.2128+5965C>A (n.2128+5965C>A)
n.2597C>A
n.2805C>A
c.2014C>A (p.Pro672Thr)
c.1039C>A (p.Pro347Thr)
c.1753C>A (p.Pro585Thr)
n.2549C>A
n.2757C>A
 ClinVar dbSNP
1g.197427921C=CA1218066481CRB1c.2596C= (p.Pro866=)
c.1477C= (p.Pro493=)
c.739C= (p.Pro247=)
c.2260C= (p.Pro754=)
c.2389C= (p.Pro797=)
c.2128+5965C= (n.2128+5965C=)
n.2597C=
n.2805C=
c.2014C= (p.Pro672=)
c.1039C= (p.Pro347=)
c.1753C= (p.Pro585=)
n.2549C=
n.2757C=
1g.197427921C>GCA344038456CRB1c.2596C>G (p.Pro866Ala)
c.1477C>G (p.Pro493Ala)
c.739C>G (p.Pro247Ala)
c.2260C>G (p.Pro754Ala)
c.2389C>G (p.Pro797Ala)
c.2128+5965C>G (n.2128+5965C>G)
n.2597C>G
n.2805C>G
c.2014C>G (p.Pro672Ala)
c.1039C>G (p.Pro347Ala)
c.1753C>G (p.Pro585Ala)
n.2549C>G
n.2757C>G
1g.197427921C>TCA344038453CRB1c.2596C>T (p.Pro866Ser)
c.1477C>T (p.Pro493Ser)
c.739C>T (p.Pro247Ser)
c.2260C>T (p.Pro754Ser)
c.2389C>T (p.Pro797Ser)
c.2128+5965C>T (n.2128+5965C>T)
n.2597C>T
n.2805C>T
c.2014C>T (p.Pro672Ser)
c.1039C>T (p.Pro347Ser)
c.1753C>T (p.Pro585Ser)
n.2549C>T
n.2757C>T
1g.197427922C>ACA344038460CRB1c.2597C>A (p.Pro866Gln)
c.1478C>A (p.Pro493Gln)
c.740C>A (p.Pro247Gln)
c.2261C>A (p.Pro754Gln)
c.2390C>A (p.Pro797Gln)
c.2128+5966C>A (n.2128+5966C>A)
n.2598C>A
n.2806C>A
c.2015C>A (p.Pro672Gln)
c.1040C>A (p.Pro347Gln)
c.1754C>A (p.Pro585Gln)
n.2550C>A
n.2758C>A
 gnomAD v4
1g.197427922C>GCA344038462CRB1c.2597C>G (p.Pro866Arg)
c.1478C>G (p.Pro493Arg)
c.740C>G (p.Pro247Arg)
c.2261C>G (p.Pro754Arg)
c.2390C>G (p.Pro797Arg)
c.2128+5966C>G (n.2128+5966C>G)
n.2598C>G
n.2806C>G
c.2015C>G (p.Pro672Arg)
c.1040C>G (p.Pro347Arg)
c.1754C>G (p.Pro585Arg)
n.2550C>G
n.2758C>G
1g.197427922C>TCA344038463CRB1c.2597C>T (p.Pro866Leu)
c.1478C>T (p.Pro493Leu)
c.740C>T (p.Pro247Leu)
c.2261C>T (p.Pro754Leu)
c.2390C>T (p.Pro797Leu)
c.2128+5966C>T (n.2128+5966C>T)
n.2598C>T
n.2806C>T
c.2015C>T (p.Pro672Leu)
c.1040C>T (p.Pro347Leu)
c.1754C>T (p.Pro585Leu)
n.2550C>T
n.2758C>T
1g.197427923A=CA1218066483CRB1c.2598A= (p.Pro866=)
c.1479A= (p.Pro493=)
c.741A= (p.Pro247=)
c.2262A= (p.Pro754=)
c.2391A= (p.Pro797=)
c.2128+5967A= (n.2128+5967A=)
n.2599A=
n.2807A=
c.2016A= (p.Pro672=)
c.1041A= (p.Pro347=)
c.1755A= (p.Pro585=)
n.2551A=
n.2759A=
1g.197427923A>CCA422808963CRB1c.2598A>C (p.Pro866=)
c.1479A>C (p.Pro493=)
c.741A>C (p.Pro247=)
c.2262A>C (p.Pro754=)
c.2391A>C (p.Pro797=)
c.2128+5967A>C (n.2128+5967A>C)
n.2599A>C
n.2807A>C
c.2016A>C (p.Pro672=)
c.1041A>C (p.Pro347=)
c.1755A>C (p.Pro585=)
n.2551A>C
n.2759A>C
 ClinVar dbSNP
1g.197427923A>GCA422808964CRB1c.2598A>G (p.Pro866=)
c.1479A>G (p.Pro493=)
c.741A>G (p.Pro247=)
c.2262A>G (p.Pro754=)
c.2391A>G (p.Pro797=)
c.2128+5967A>G (n.2128+5967A>G)
n.2599A>G
n.2807A>G
c.2016A>G (p.Pro672=)
c.1041A>G (p.Pro347=)
c.1755A>G (p.Pro585=)
n.2551A>G
n.2759A>G
 ClinVar dbSNP gnomAD v4
1g.197427923A>TCA422808965CRB1c.2598A>T (p.Pro866=)
c.1479A>T (p.Pro493=)
c.741A>T (p.Pro247=)
c.2262A>T (p.Pro754=)
c.2391A>T (p.Pro797=)
c.2128+5967A>T (n.2128+5967A>T)
n.2599A>T
n.2807A>T
c.2016A>T (p.Pro672=)
c.1041A>T (p.Pro347=)
c.1755A>T (p.Pro585=)
n.2551A>T
n.2759A>T
1g.197427924A>CCA344038466CRB1c.2599A>C (p.Asn867His)
c.1480A>C (p.Asn494His)
c.742A>C (p.Asn248His)
c.2263A>C (p.Asn755His)
c.2392A>C (p.Asn798His)
c.2128+5968A>C (n.2128+5968A>C)
n.2600A>C
n.2808A>C
c.2017A>C (p.Asn673His)
c.1042A>C (p.Asn348His)
c.1756A>C (p.Asn586His)
n.2552A>C
n.2760A>C
1g.197427924A>GCA344038468CRB1c.2599A>G (p.Asn867Asp)
c.1480A>G (p.Asn494Asp)
c.742A>G (p.Asn248Asp)
c.2263A>G (p.Asn755Asp)
c.2392A>G (p.Asn798Asp)
c.2128+5968A>G (n.2128+5968A>G)
n.2600A>G
n.2808A>G
c.2017A>G (p.Asn673Asp)
c.1042A>G (p.Asn348Asp)
c.1756A>G (p.Asn586Asp)
n.2552A>G
n.2760A>G
1g.197427924A>TCA344038470CRB1c.2599A>T (p.Asn867Tyr)
c.1480A>T (p.Asn494Tyr)
c.742A>T (p.Asn248Tyr)
c.2263A>T (p.Asn755Tyr)
c.2392A>T (p.Asn798Tyr)
c.2128+5968A>T (n.2128+5968A>T)
n.2600A>T
n.2808A>T
c.2017A>T (p.Asn673Tyr)
c.1042A>T (p.Asn348Tyr)
c.1756A>T (p.Asn586Tyr)
n.2552A>T
n.2760A>T
 gnomAD v4
1g.197427925A=CA1218066486CRB1c.2600A= (p.Asn867=)
c.1481A= (p.Asn494=)
c.743A= (p.Asn248=)
c.2264A= (p.Asn755=)
c.2393A= (p.Asn798=)
c.2128+5969A= (n.2128+5969A=)
n.2601A=
n.2809A=
c.2018A= (p.Asn673=)
c.1043A= (p.Asn348=)
c.1757A= (p.Asn586=)
n.2553A=
n.2761A=
1g.197427925A>CCA344038473CRB1c.2600A>C (p.Asn867Thr)
c.1481A>C (p.Asn494Thr)
c.743A>C (p.Asn248Thr)
c.2264A>C (p.Asn755Thr)
c.2393A>C (p.Asn798Thr)
c.2128+5969A>C (n.2128+5969A>C)
n.2601A>C
n.2809A>C
c.2018A>C (p.Asn673Thr)
c.1043A>C (p.Asn348Thr)
c.1757A>C (p.Asn586Thr)
n.2553A>C
n.2761A>C
1g.197427925A>GCA344038475CRB1c.2600A>G (p.Asn867Ser)
c.1481A>G (p.Asn494Ser)
c.743A>G (p.Asn248Ser)
c.2264A>G (p.Asn755Ser)
c.2393A>G (p.Asn798Ser)
c.2128+5969A>G (n.2128+5969A>G)
n.2601A>G
n.2809A>G
c.2018A>G (p.Asn673Ser)
c.1043A>G (p.Asn348Ser)
c.1757A>G (p.Asn586Ser)
n.2553A>G
n.2761A>G
 dbSNP gnomAD v3 gnomAD v4
1g.197427925A>TCA344038477CRB1c.2600A>T (p.Asn867Ile)
c.1481A>T (p.Asn494Ile)
c.743A>T (p.Asn248Ile)
c.2264A>T (p.Asn755Ile)
c.2393A>T (p.Asn798Ile)
c.2128+5969A>T (n.2128+5969A>T)
n.2601A>T
n.2809A>T
c.2018A>T (p.Asn673Ile)
c.1043A>T (p.Asn348Ile)
c.1757A>T (p.Asn586Ile)
n.2553A>T
n.2761A>T
1g.197427925_197427926insACAACAACCAAACACACA2747247687CRB1c.2600_2601insACAACAACCAAACACA (p.Asn867LysfsTer?)
c.1481_1482insACAACAACCAAACACA (p.Asn494LysfsTer?)
c.743_744insACAACAACCAAACACA (p.Asn248LysfsTer?)
c.2264_2265insACAACAACCAAACACA (p.Asn755LysfsTer?)
c.2393_2394insACAACAACCAAACACA (p.Asn798LysfsTer?)
c.2128+5969_2128+5970insACAACAACCAAACACA (n.2128+5969_2128+5970insACAACAACCAAACACA)
n.2601_2602insACAACAACCAAACACA
n.2809_2810insACAACAACCAAACACA
c.2018_2019insACAACAACCAAACACA (p.Asn673LysfsTer?)
c.1043_1044insACAACAACCAAACACA (p.Asn348LysfsTer?)
c.1757_1758insACAACAACCAAACACA (p.Asn586LysfsTer?)
n.2553_2554insACAACAACCAAACACA
n.2761_2762insACAACAACCAAACACA
1g.197427926T>ACA344038479CRB1c.2601T>A (p.Asn867Lys)
c.1482T>A (p.Asn494Lys)
c.744T>A (p.Asn248Lys)
c.2265T>A (p.Asn755Lys)
c.2394T>A (p.Asn798Lys)
c.2128+5970T>A (n.2128+5970T>A)
n.2602T>A
n.2810T>A
c.2019T>A (p.Asn673Lys)
c.1044T>A (p.Asn348Lys)
c.1758T>A (p.Asn586Lys)
n.2554T>A
n.2762T>A
1g.197427926T>CCA422808967CRB1c.2601T>C (p.Asn867=)
c.1482T>C (p.Asn494=)
c.744T>C (p.Asn248=)
c.2265T>C (p.Asn755=)
c.2394T>C (p.Asn798=)
c.2128+5970T>C (n.2128+5970T>C)
n.2602T>C
n.2810T>C
c.2019T>C (p.Asn673=)
c.1044T>C (p.Asn348=)
c.1758T>C (p.Asn586=)
n.2554T>C
n.2762T>C
1g.197427926T>GCA344038481CRB1c.2601T>G (p.Asn867Lys)
c.1482T>G (p.Asn494Lys)
c.744T>G (p.Asn248Lys)
c.2265T>G (p.Asn755Lys)
c.2394T>G (p.Asn798Lys)
c.2128+5970T>G (n.2128+5970T>G)
n.2602T>G
n.2810T>G
c.2019T>G (p.Asn673Lys)
c.1044T>G (p.Asn348Lys)
c.1758T>G (p.Asn586Lys)
n.2554T>G
n.2762T>G

Number of alleles fetched