Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197435117G>ACA344046857CRB1c.3254G>A (p.Arg1085Lys)
c.2135G>A (p.Arg712Lys)
c.1397G>A (p.Arg466Lys)
c.2918G>A (p.Arg973Lys)
c.3182G>A (p.Arg1061Lys)
c.2129-483G>A (n.2129-483G>A)
n.3255G>A
n.3463G>A
c.2672G>A (p.Arg891Lys)
c.1697G>A (p.Arg566Lys)
c.2411G>A (p.Arg804Lys)
c.3389G>A (p.Arg1130Lys)
n.3207G>A
n.3415G>A
1g.197435117G>CCA344046859CRB1c.3254G>C (p.Arg1085Thr)
c.2135G>C (p.Arg712Thr)
c.1397G>C (p.Arg466Thr)
c.2918G>C (p.Arg973Thr)
c.3182G>C (p.Arg1061Thr)
c.2129-483G>C (n.2129-483G>C)
n.3255G>C
n.3463G>C
c.2672G>C (p.Arg891Thr)
c.1697G>C (p.Arg566Thr)
c.2411G>C (p.Arg804Thr)
c.3389G>C (p.Arg1130Thr)
n.3207G>C
n.3415G>C
1g.197435117G>TCA344046860CRB1c.3254G>T (p.Arg1085Ile)
c.2135G>T (p.Arg712Ile)
c.1397G>T (p.Arg466Ile)
c.2918G>T (p.Arg973Ile)
c.3182G>T (p.Arg1061Ile)
c.2129-483G>T (n.2129-483G>T)
n.3255G>T
n.3463G>T
c.2672G>T (p.Arg891Ile)
c.1697G>T (p.Arg566Ile)
c.2411G>T (p.Arg804Ile)
c.3389G>T (p.Arg1130Ile)
n.3207G>T
n.3415G>T
1g.197435118A=CA1218068802CRB1c.3255A= (p.Arg1085=)
c.2136A= (p.Arg712=)
c.1398A= (p.Arg466=)
c.2919A= (p.Arg973=)
c.3183A= (p.Arg1061=)
c.2129-482A= (n.2129-482A=)
n.3256A=
n.3464A=
c.2673A= (p.Arg891=)
c.1698A= (p.Arg566=)
c.2412A= (p.Arg804=)
c.3390A= (p.Arg1130=)
n.3208A=
n.3416A=
1g.197435118A>CCA344046863CRB1c.3255A>C (p.Arg1085Ser)
c.2136A>C (p.Arg712Ser)
c.1398A>C (p.Arg466Ser)
c.2919A>C (p.Arg973Ser)
c.3183A>C (p.Arg1061Ser)
c.2129-482A>C (n.2129-482A>C)
n.3256A>C
n.3464A>C
c.2673A>C (p.Arg891Ser)
c.1698A>C (p.Arg566Ser)
c.2412A>C (p.Arg804Ser)
c.3390A>C (p.Arg1130Ser)
n.3208A>C
n.3416A>C
 gnomAD v4
1g.197435118A>GCA1312304CRB1c.3255A>G (p.Arg1085=)
c.2136A>G (p.Arg712=)
c.1398A>G (p.Arg466=)
c.2919A>G (p.Arg973=)
c.3183A>G (p.Arg1061=)
c.2129-482A>G (n.2129-482A>G)
n.3256A>G
n.3464A>G
c.2673A>G (p.Arg891=)
c.1698A>G (p.Arg566=)
c.2412A>G (p.Arg804=)
c.3390A>G (p.Arg1130=)
n.3208A>G
n.3416A>G
 ClinVar dbSNP ExAC gnomAD v2
1g.197435118A>TCA344046866CRB1c.3255A>T (p.Arg1085Ser)
c.2136A>T (p.Arg712Ser)
c.1398A>T (p.Arg466Ser)
c.2919A>T (p.Arg973Ser)
c.3183A>T (p.Arg1061Ser)
c.2129-482A>T (n.2129-482A>T)
n.3256A>T
n.3464A>T
c.2673A>T (p.Arg891Ser)
c.1698A>T (p.Arg566Ser)
c.2412A>T (p.Arg804Ser)
c.3390A>T (p.Arg1130Ser)
n.3208A>T
n.3416A>T
1g.197435119G>ACA344046869CRB1c.3256G>A (p.Ala1086Thr)
c.2137G>A (p.Ala713Thr)
c.1399G>A (p.Ala467Thr)
c.2920G>A (p.Ala974Thr)
c.3184G>A (p.Ala1062Thr)
c.2129-481G>A (n.2129-481G>A)
n.3257G>A
n.3465G>A
c.2674G>A (p.Ala892Thr)
c.1699G>A (p.Ala567Thr)
c.2413G>A (p.Ala805Thr)
c.3391G>A (p.Ala1131Thr)
n.3209G>A
n.3417G>A
1g.197435119G>CCA344046871CRB1c.3256G>C (p.Ala1086Pro)
c.2137G>C (p.Ala713Pro)
c.1399G>C (p.Ala467Pro)
c.2920G>C (p.Ala974Pro)
c.3184G>C (p.Ala1062Pro)
c.2129-481G>C (n.2129-481G>C)
n.3257G>C
n.3465G>C
c.2674G>C (p.Ala892Pro)
c.1699G>C (p.Ala567Pro)
c.2413G>C (p.Ala805Pro)
c.3391G>C (p.Ala1131Pro)
n.3209G>C
n.3417G>C
1g.197435119G>TCA344046873CRB1c.3256G>T (p.Ala1086Ser)
c.2137G>T (p.Ala713Ser)
c.1399G>T (p.Ala467Ser)
c.2920G>T (p.Ala974Ser)
c.3184G>T (p.Ala1062Ser)
c.2129-481G>T (n.2129-481G>T)
n.3257G>T
n.3465G>T
c.2674G>T (p.Ala892Ser)
c.1699G>T (p.Ala567Ser)
c.2413G>T (p.Ala805Ser)
c.3391G>T (p.Ala1131Ser)
n.3209G>T
n.3417G>T
 ClinVar dbSNP
1g.197435120C>ACA344046877CRB1c.3257C>A (p.Ala1086Asp)
c.2138C>A (p.Ala713Asp)
c.1400C>A (p.Ala467Asp)
c.2921C>A (p.Ala974Asp)
c.3185C>A (p.Ala1062Asp)
c.2129-480C>A (n.2129-480C>A)
n.3258C>A
n.3466C>A
c.2675C>A (p.Ala892Asp)
c.1700C>A (p.Ala567Asp)
c.2414C>A (p.Ala805Asp)
c.3392C>A (p.Ala1131Asp)
n.3210C>A
n.3418C>A
 dbSNP gnomAD v2 gnomAD v4
1g.197435120C=CA1218068803CRB1c.3257C= (p.Ala1086=)
c.2138C= (p.Ala713=)
c.1400C= (p.Ala467=)
c.2921C= (p.Ala974=)
c.3185C= (p.Ala1062=)
c.2129-480C= (n.2129-480C=)
n.3258C=
n.3466C=
c.2675C= (p.Ala892=)
c.1700C= (p.Ala567=)
c.2414C= (p.Ala805=)
c.3392C= (p.Ala1131=)
n.3210C=
n.3418C=
1g.197435120C>GCA344046879CRB1c.3257C>G (p.Ala1086Gly)
c.2138C>G (p.Ala713Gly)
c.1400C>G (p.Ala467Gly)
c.2921C>G (p.Ala974Gly)
c.3185C>G (p.Ala1062Gly)
c.2129-480C>G (n.2129-480C>G)
n.3258C>G
n.3466C>G
c.2675C>G (p.Ala892Gly)
c.1700C>G (p.Ala567Gly)
c.2414C>G (p.Ala805Gly)
c.3392C>G (p.Ala1131Gly)
n.3210C>G
n.3418C>G
 gnomAD v4
1g.197435120C>TCA344046881CRB1c.3257C>T (p.Ala1086Val)
c.2138C>T (p.Ala713Val)
c.1400C>T (p.Ala467Val)
c.2921C>T (p.Ala974Val)
c.3185C>T (p.Ala1062Val)
c.2129-480C>T (n.2129-480C>T)
n.3258C>T
n.3466C>T
c.2675C>T (p.Ala892Val)
c.1700C>T (p.Ala567Val)
c.2414C>T (p.Ala805Val)
c.3392C>T (p.Ala1131Val)
n.3210C>T
n.3418C>T
 ClinVar gnomAD v4
1g.197435121T>ACA1312305CRB1c.3258T>A (p.Ala1086=)
c.2139T>A (p.Ala713=)
c.1401T>A (p.Ala467=)
c.2922T>A (p.Ala974=)
c.3186T>A (p.Ala1062=)
c.2129-479T>A (n.2129-479T>A)
n.3259T>A
n.3467T>A
c.2676T>A (p.Ala892=)
c.1701T>A (p.Ala567=)
c.2415T>A (p.Ala805=)
c.3393T>A (p.Ala1131=)
n.3211T>A
n.3419T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.197435121T>CCA422809367CRB1c.3258T>C (p.Ala1086=)
c.2139T>C (p.Ala713=)
c.1401T>C (p.Ala467=)
c.2922T>C (p.Ala974=)
c.3186T>C (p.Ala1062=)
c.2129-479T>C (n.2129-479T>C)
n.3259T>C
n.3467T>C
c.2676T>C (p.Ala892=)
c.1701T>C (p.Ala567=)
c.2415T>C (p.Ala805=)
c.3393T>C (p.Ala1131=)
n.3211T>C
n.3419T>C
 ClinVar gnomAD v4
1g.197435121T>GCA422809368CRB1c.3258T>G (p.Ala1086=)
c.2139T>G (p.Ala713=)
c.1401T>G (p.Ala467=)
c.2922T>G (p.Ala974=)
c.3186T>G (p.Ala1062=)
c.2129-479T>G (n.2129-479T>G)
n.3259T>G
n.3467T>G
c.2676T>G (p.Ala892=)
c.1701T>G (p.Ala567=)
c.2415T>G (p.Ala805=)
c.3393T>G (p.Ala1131=)
n.3211T>G
n.3419T>G
1g.197435121T=CA1144863167CRB1c.3258T= (p.Ala1086=)
c.2139T= (p.Ala713=)
c.1401T= (p.Ala467=)
c.2922T= (p.Ala974=)
c.3186T= (p.Ala1062=)
c.2129-479T= (n.2129-479T=)
n.3259T=
n.3467T=
c.2676T= (p.Ala892=)
c.1701T= (p.Ala567=)
c.2415T= (p.Ala805=)
c.3393T= (p.Ala1131=)
n.3211T=
n.3419T=
1g.197435122A=CA1218068804CRB1c.3259A= (p.Ile1087=)
c.2140A= (p.Ile714=)
c.1402A= (p.Ile468=)
c.2923A= (p.Ile975=)
c.3187A= (p.Ile1063=)
c.2129-478A= (n.2129-478A=)
n.3260A=
n.3468A=
c.2677A= (p.Ile893=)
c.1702A= (p.Ile568=)
c.2416A= (p.Ile806=)
c.3394A= (p.Ile1132=)
n.3212A=
n.3420A=
1g.197435122A>CCA344046890CRB1c.3259A>C (p.Ile1087Leu)
c.2140A>C (p.Ile714Leu)
c.1402A>C (p.Ile468Leu)
c.2923A>C (p.Ile975Leu)
c.3187A>C (p.Ile1063Leu)
c.2129-478A>C (n.2129-478A>C)
n.3260A>C
n.3468A>C
c.2677A>C (p.Ile893Leu)
c.1702A>C (p.Ile568Leu)
c.2416A>C (p.Ile806Leu)
c.3394A>C (p.Ile1132Leu)
n.3212A>C
n.3420A>C
1g.197435122A>GCA344046886CRB1c.3259A>G (p.Ile1087Val)
c.2140A>G (p.Ile714Val)
c.1402A>G (p.Ile468Val)
c.2923A>G (p.Ile975Val)
c.3187A>G (p.Ile1063Val)
c.2129-478A>G (n.2129-478A>G)
n.3260A>G
n.3468A>G
c.2677A>G (p.Ile893Val)
c.1702A>G (p.Ile568Val)
c.2416A>G (p.Ile806Val)
c.3394A>G (p.Ile1132Val)
n.3212A>G
n.3420A>G
 dbSNP gnomAD v3 gnomAD v4
1g.197435122A>TCA344046888CRB1c.3259A>T (p.Ile1087Phe)
c.2140A>T (p.Ile714Phe)
c.1402A>T (p.Ile468Phe)
c.2923A>T (p.Ile975Phe)
c.3187A>T (p.Ile1063Phe)
c.2129-478A>T (n.2129-478A>T)
n.3260A>T
n.3468A>T
c.2677A>T (p.Ile893Phe)
c.1702A>T (p.Ile568Phe)
c.2416A>T (p.Ile806Phe)
c.3394A>T (p.Ile1132Phe)
n.3212A>T
n.3420A>T
1g.197435123T>ACA344046893CRB1c.3260T>A (p.Ile1087Asn)
c.2141T>A (p.Ile714Asn)
c.1403T>A (p.Ile468Asn)
c.2924T>A (p.Ile975Asn)
c.3188T>A (p.Ile1063Asn)
c.2129-477T>A (n.2129-477T>A)
n.3261T>A
n.3469T>A
c.2678T>A (p.Ile893Asn)
c.1703T>A (p.Ile568Asn)
c.2417T>A (p.Ile806Asn)
c.3395T>A (p.Ile1132Asn)
n.3213T>A
n.3421T>A
1g.197435123T>CCA344046894CRB1c.3260T>C (p.Ile1087Thr)
c.2141T>C (p.Ile714Thr)
c.1403T>C (p.Ile468Thr)
c.2924T>C (p.Ile975Thr)
c.3188T>C (p.Ile1063Thr)
c.2129-477T>C (n.2129-477T>C)
n.3261T>C
n.3469T>C
c.2678T>C (p.Ile893Thr)
c.1703T>C (p.Ile568Thr)
c.2417T>C (p.Ile806Thr)
c.3395T>C (p.Ile1132Thr)
n.3213T>C
n.3421T>C
1g.197435123T>GCA344046897CRB1c.3260T>G (p.Ile1087Ser)
c.2141T>G (p.Ile714Ser)
c.1403T>G (p.Ile468Ser)
c.2924T>G (p.Ile975Ser)
c.3188T>G (p.Ile1063Ser)
c.2129-477T>G (n.2129-477T>G)
n.3261T>G
n.3469T>G
c.2678T>G (p.Ile893Ser)
c.1703T>G (p.Ile568Ser)
c.2417T>G (p.Ile806Ser)
c.3395T>G (p.Ile1132Ser)
n.3213T>G
n.3421T>G
1g.197435124T>ACA422809376CRB1c.3261T>A (p.Ile1087=)
c.2142T>A (p.Ile714=)
c.1404T>A (p.Ile468=)
c.2925T>A (p.Ile975=)
c.3189T>A (p.Ile1063=)
c.2129-476T>A (n.2129-476T>A)
n.3262T>A
n.3470T>A
c.2679T>A (p.Ile893=)
c.1704T>A (p.Ile568=)
c.2418T>A (p.Ile806=)
c.3396T>A (p.Ile1132=)
n.3214T>A
n.3422T>A
1g.197435124T>CCA422809379CRB1c.3261T>C (p.Ile1087=)
c.2142T>C (p.Ile714=)
c.1404T>C (p.Ile468=)
c.2925T>C (p.Ile975=)
c.3189T>C (p.Ile1063=)
c.2129-476T>C (n.2129-476T>C)
n.3262T>C
n.3470T>C
c.2679T>C (p.Ile893=)
c.1704T>C (p.Ile568=)
c.2418T>C (p.Ile806=)
c.3396T>C (p.Ile1132=)
n.3214T>C
n.3422T>C
1g.197435124T>GCA344046900CRB1c.3261T>G (p.Ile1087Met)
c.2142T>G (p.Ile714Met)
c.1404T>G (p.Ile468Met)
c.2925T>G (p.Ile975Met)
c.3189T>G (p.Ile1063Met)
c.2129-476T>G (n.2129-476T>G)
n.3262T>G
n.3470T>G
c.2679T>G (p.Ile893Met)
c.1704T>G (p.Ile568Met)
c.2418T>G (p.Ile806Met)
c.3396T>G (p.Ile1132Met)
n.3214T>G
n.3422T>G
 gnomAD v4
1g.197435124_197435125insACCA2747248275CRB1c.3261_3262insAC (p.Asp1088ThrfsTer4)
c.2142_2143insAC (p.Asp715ThrfsTer4)
c.1404_1405insAC (p.Asp469ThrfsTer4)
c.2925_2926insAC (p.Asp976ThrfsTer4)
c.3189_3190insAC (p.Asp1064ThrfsTer4)
c.2129-476_2129-475insAC (n.2129-476_2129-475insAC)
n.3262_3263insAC
n.3470_3471insAC
c.2679_2680insAC (p.Asp894ThrfsTer4)
c.1704_1705insAC (p.Asp569ThrfsTer4)
c.2418_2419insAC (p.Asp807ThrfsTer4)
c.3396_3397insAC (p.Asp1133ThrfsTer4)
n.3214_3215insAC
n.3422_3423insAC
1g.197435125G>ACA344046902CRB1c.3262G>A (p.Asp1088Asn)
c.2143G>A (p.Asp715Asn)
c.1405G>A (p.Asp469Asn)
c.2926G>A (p.Asp976Asn)
c.3190G>A (p.Asp1064Asn)
c.2129-475G>A (n.2129-475G>A)
n.3263G>A
n.3471G>A
c.2680G>A (p.Asp894Asn)
c.1705G>A (p.Asp569Asn)
c.2419G>A (p.Asp807Asn)
c.3397G>A (p.Asp1133Asn)
n.3215G>A
n.3423G>A
 gnomAD v4
1g.197435125G>CCA344046905CRB1c.3262G>C (p.Asp1088His)
c.2143G>C (p.Asp715His)
c.1405G>C (p.Asp469His)
c.2926G>C (p.Asp976His)
c.3190G>C (p.Asp1064His)
c.2129-475G>C (n.2129-475G>C)
n.3263G>C
n.3471G>C
c.2680G>C (p.Asp894His)
c.1705G>C (p.Asp569His)
c.2419G>C (p.Asp807His)
c.3397G>C (p.Asp1133His)
n.3215G>C
n.3423G>C
1g.197435125G>TCA344046907CRB1c.3262G>T (p.Asp1088Tyr)
c.2143G>T (p.Asp715Tyr)
c.1405G>T (p.Asp469Tyr)
c.2926G>T (p.Asp976Tyr)
c.3190G>T (p.Asp1064Tyr)
c.2129-475G>T (n.2129-475G>T)
n.3263G>T
n.3471G>T
c.2680G>T (p.Asp894Tyr)
c.1705G>T (p.Asp569Tyr)
c.2419G>T (p.Asp807Tyr)
c.3397G>T (p.Asp1133Tyr)
n.3215G>T
n.3423G>T
1g.197435126A>CCA344046910CRB1c.3263A>C (p.Asp1088Ala)
c.2144A>C (p.Asp715Ala)
c.1406A>C (p.Asp469Ala)
c.2927A>C (p.Asp976Ala)
c.3191A>C (p.Asp1064Ala)
c.2129-474A>C (n.2129-474A>C)
n.3264A>C
n.3472A>C
c.2681A>C (p.Asp894Ala)
c.1706A>C (p.Asp569Ala)
c.2420A>C (p.Asp807Ala)
c.3398A>C (p.Asp1133Ala)
n.3216A>C
n.3424A>C
 COSMIC COSMIC
1g.197435126A>GCA344046912CRB1c.3263A>G (p.Asp1088Gly)
c.2144A>G (p.Asp715Gly)
c.1406A>G (p.Asp469Gly)
c.2927A>G (p.Asp976Gly)
c.3191A>G (p.Asp1064Gly)
c.2129-474A>G (n.2129-474A>G)
n.3264A>G
n.3472A>G
c.2681A>G (p.Asp894Gly)
c.1706A>G (p.Asp569Gly)
c.2420A>G (p.Asp807Gly)
c.3398A>G (p.Asp1133Gly)
n.3216A>G
n.3424A>G
 COSMIC
1g.197435126A>TCA344046915CRB1c.3263A>T (p.Asp1088Val)
c.2144A>T (p.Asp715Val)
c.1406A>T (p.Asp469Val)
c.2927A>T (p.Asp976Val)
c.3191A>T (p.Asp1064Val)
c.2129-474A>T (n.2129-474A>T)
n.3264A>T
n.3472A>T
c.2681A>T (p.Asp894Val)
c.1706A>T (p.Asp569Val)
c.2420A>T (p.Asp807Val)
c.3398A>T (p.Asp1133Val)
n.3216A>T
n.3424A>T
1g.197435127C>ACA344046918CRB1c.3264C>A (p.Asp1088Glu)
c.2145C>A (p.Asp715Glu)
c.1407C>A (p.Asp469Glu)
c.2928C>A (p.Asp976Glu)
c.3192C>A (p.Asp1064Glu)
c.2129-473C>A (n.2129-473C>A)
n.3265C>A
n.3473C>A
c.2682C>A (p.Asp894Glu)
c.1707C>A (p.Asp569Glu)
c.2421C>A (p.Asp807Glu)
c.3399C>A (p.Asp1133Glu)
n.3217C>A
n.3425C>A
1g.197435127C>GCA344046920CRB1c.3264C>G (p.Asp1088Glu)
c.2145C>G (p.Asp715Glu)
c.1407C>G (p.Asp469Glu)
c.2928C>G (p.Asp976Glu)
c.3192C>G (p.Asp1064Glu)
c.2129-473C>G (n.2129-473C>G)
n.3265C>G
n.3473C>G
c.2682C>G (p.Asp894Glu)
c.1707C>G (p.Asp569Glu)
c.2421C>G (p.Asp807Glu)
c.3399C>G (p.Asp1133Glu)
n.3217C>G
n.3425C>G
 gnomAD v4
1g.197435127C>TCA422809389CRB1c.3264C>T (p.Asp1088=)
c.2145C>T (p.Asp715=)
c.1407C>T (p.Asp469=)
c.2928C>T (p.Asp976=)
c.3192C>T (p.Asp1064=)
c.2129-473C>T (n.2129-473C>T)
n.3265C>T
n.3473C>T
c.2682C>T (p.Asp894=)
c.1707C>T (p.Asp569=)
c.2421C>T (p.Asp807=)
c.3399C>T (p.Asp1133=)
n.3217C>T
n.3425C>T
1g.197435128A>CCA344046927CRB1c.3265A>C (p.Asn1089His)
c.2146A>C (p.Asn716His)
c.1408A>C (p.Asn470His)
c.2929A>C (p.Asn977His)
c.3193A>C (p.Asn1065His)
c.2129-472A>C (n.2129-472A>C)
n.3266A>C
n.3474A>C
c.2683A>C (p.Asn895His)
c.1708A>C (p.Asn570His)
c.2422A>C (p.Asn808His)
c.3400A>C (p.Asn1134His)
n.3218A>C
n.3426A>C
1g.197435128A>GCA344046923CRB1c.3265A>G (p.Asn1089Asp)
c.2146A>G (p.Asn716Asp)
c.1408A>G (p.Asn470Asp)
c.2929A>G (p.Asn977Asp)
c.3193A>G (p.Asn1065Asp)
c.2129-472A>G (n.2129-472A>G)
n.3266A>G
n.3474A>G
c.2683A>G (p.Asn895Asp)
c.1708A>G (p.Asn570Asp)
c.2422A>G (p.Asn808Asp)
c.3400A>G (p.Asn1134Asp)
n.3218A>G
n.3426A>G
1g.197435128A>TCA344046925CRB1c.3265A>T (p.Asn1089Tyr)
c.2146A>T (p.Asn716Tyr)
c.1408A>T (p.Asn470Tyr)
c.2929A>T (p.Asn977Tyr)
c.3193A>T (p.Asn1065Tyr)
c.2129-472A>T (n.2129-472A>T)
n.3266A>T
n.3474A>T
c.2683A>T (p.Asn895Tyr)
c.1708A>T (p.Asn570Tyr)
c.2422A>T (p.Asn808Tyr)
c.3400A>T (p.Asn1134Tyr)
n.3218A>T
n.3426A>T
1g.197435129A=CA1218068805CRB1c.3266A= (p.Asn1089=)
c.2147A= (p.Asn716=)
c.1409A= (p.Asn470=)
c.2930A= (p.Asn977=)
c.3194A= (p.Asn1065=)
c.2129-471A= (n.2129-471A=)
n.3267A=
n.3475A=
c.2684A= (p.Asn895=)
c.1709A= (p.Asn570=)
c.2423A= (p.Asn808=)
c.3401A= (p.Asn1134=)
n.3219A=
n.3427A=
1g.197435129A>CCA344046931CRB1c.3266A>C (p.Asn1089Thr)
c.2147A>C (p.Asn716Thr)
c.1409A>C (p.Asn470Thr)
c.2930A>C (p.Asn977Thr)
c.3194A>C (p.Asn1065Thr)
c.2129-471A>C (n.2129-471A>C)
n.3267A>C
n.3475A>C
c.2684A>C (p.Asn895Thr)
c.1709A>C (p.Asn570Thr)
c.2423A>C (p.Asn808Thr)
c.3401A>C (p.Asn1134Thr)
n.3219A>C
n.3427A>C
1g.197435129A>GCA1312306CRB1c.3266A>G (p.Asn1089Ser)
c.2147A>G (p.Asn716Ser)
c.1409A>G (p.Asn470Ser)
c.2930A>G (p.Asn977Ser)
c.3194A>G (p.Asn1065Ser)
c.2129-471A>G (n.2129-471A>G)
n.3267A>G
n.3475A>G
c.2684A>G (p.Asn895Ser)
c.1709A>G (p.Asn570Ser)
c.2423A>G (p.Asn808Ser)
c.3401A>G (p.Asn1134Ser)
n.3219A>G
n.3427A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435129A>TCA344046934CRB1c.3266A>T (p.Asn1089Ile)
c.2147A>T (p.Asn716Ile)
c.1409A>T (p.Asn470Ile)
c.2930A>T (p.Asn977Ile)
c.3194A>T (p.Asn1065Ile)
c.2129-471A>T (n.2129-471A>T)
n.3267A>T
n.3475A>T
c.2684A>T (p.Asn895Ile)
c.1709A>T (p.Asn570Ile)
c.2423A>T (p.Asn808Ile)
c.3401A>T (p.Asn1134Ile)
n.3219A>T
n.3427A>T
 gnomAD v4
1g.197435130T>ACA344046936CRB1c.3267T>A (p.Asn1089Lys)
c.2148T>A (p.Asn716Lys)
c.1410T>A (p.Asn470Lys)
c.2931T>A (p.Asn977Lys)
c.3195T>A (p.Asn1065Lys)
c.2129-470T>A (n.2129-470T>A)
n.3268T>A
n.3476T>A
c.2685T>A (p.Asn895Lys)
c.1710T>A (p.Asn570Lys)
c.2424T>A (p.Asn808Lys)
c.3402T>A (p.Asn1134Lys)
n.3220T>A
n.3428T>A
1g.197435130T>CCA422809392CRB1c.3267T>C (p.Asn1089=)
c.2148T>C (p.Asn716=)
c.1410T>C (p.Asn470=)
c.2931T>C (p.Asn977=)
c.3195T>C (p.Asn1065=)
c.2129-470T>C (n.2129-470T>C)
n.3268T>C
n.3476T>C
c.2685T>C (p.Asn895=)
c.1710T>C (p.Asn570=)
c.2424T>C (p.Asn808=)
c.3402T>C (p.Asn1134=)
n.3220T>C
n.3428T>C
 ClinVar gnomAD v4
1g.197435130T>GCA344046938CRB1c.3267T>G (p.Asn1089Lys)
c.2148T>G (p.Asn716Lys)
c.1410T>G (p.Asn470Lys)
c.2931T>G (p.Asn977Lys)
c.3195T>G (p.Asn1065Lys)
c.2129-470T>G (n.2129-470T>G)
n.3268T>G
n.3476T>G
c.2685T>G (p.Asn895Lys)
c.1710T>G (p.Asn570Lys)
c.2424T>G (p.Asn808Lys)
c.3402T>G (p.Asn1134Lys)
n.3220T>G
n.3428T>G
1g.197435131A=CA1218068806CRB1c.3268A= (p.Ile1090=)
c.2149A= (p.Ile717=)
c.1411A= (p.Ile471=)
c.2932A= (p.Ile978=)
c.3196A= (p.Ile1066=)
c.2129-469A= (n.2129-469A=)
n.3269A=
n.3477A=
c.2686A= (p.Ile896=)
c.1711A= (p.Ile571=)
c.2425A= (p.Ile809=)
c.3403A= (p.Ile1135=)
n.3221A=
n.3429A=
1g.197435131A>CCA344046942CRB1c.3268A>C (p.Ile1090Leu)
c.2149A>C (p.Ile717Leu)
c.1411A>C (p.Ile471Leu)
c.2932A>C (p.Ile978Leu)
c.3196A>C (p.Ile1066Leu)
c.2129-469A>C (n.2129-469A>C)
n.3269A>C
n.3477A>C
c.2686A>C (p.Ile896Leu)
c.1711A>C (p.Ile571Leu)
c.2425A>C (p.Ile809Leu)
c.3403A>C (p.Ile1135Leu)
n.3221A>C
n.3429A>C
1g.197435131A>GCA344046944CRB1c.3268A>G (p.Ile1090Val)
c.2149A>G (p.Ile717Val)
c.1411A>G (p.Ile471Val)
c.2932A>G (p.Ile978Val)
c.3196A>G (p.Ile1066Val)
c.2129-469A>G (n.2129-469A>G)
n.3269A>G
n.3477A>G
c.2686A>G (p.Ile896Val)
c.1711A>G (p.Ile571Val)
c.2425A>G (p.Ile809Val)
c.3403A>G (p.Ile1135Val)
n.3221A>G
n.3429A>G
 dbSNP gnomAD v4
1g.197435131A>TCA344046946CRB1c.3268A>T (p.Ile1090Leu)
c.2149A>T (p.Ile717Leu)
c.1411A>T (p.Ile471Leu)
c.2932A>T (p.Ile978Leu)
c.3196A>T (p.Ile1066Leu)
c.2129-469A>T (n.2129-469A>T)
n.3269A>T
n.3477A>T
c.2686A>T (p.Ile896Leu)
c.1711A>T (p.Ile571Leu)
c.2425A>T (p.Ile809Leu)
c.3403A>T (p.Ile1135Leu)
n.3221A>T
n.3429A>T
1g.197435132T>ACA344046949CRB1c.3269T>A (p.Ile1090Lys)
c.2150T>A (p.Ile717Lys)
c.1412T>A (p.Ile471Lys)
c.2933T>A (p.Ile978Lys)
c.3197T>A (p.Ile1066Lys)
c.2129-468T>A (n.2129-468T>A)
n.3270T>A
n.3478T>A
c.2687T>A (p.Ile896Lys)
c.1712T>A (p.Ile571Lys)
c.2426T>A (p.Ile809Lys)
c.3404T>A (p.Ile1135Lys)
n.3222T>A
n.3430T>A
1g.197435132T>CCA1312307CRB1c.3269T>C (p.Ile1090Thr)
c.2150T>C (p.Ile717Thr)
c.1412T>C (p.Ile471Thr)
c.2933T>C (p.Ile978Thr)
c.3197T>C (p.Ile1066Thr)
c.2129-468T>C (n.2129-468T>C)
n.3270T>C
n.3478T>C
c.2687T>C (p.Ile896Thr)
c.1712T>C (p.Ile571Thr)
c.2426T>C (p.Ile809Thr)
c.3404T>C (p.Ile1135Thr)
n.3222T>C
n.3430T>C
 dbSNP ExAC gnomAD v2
1g.197435132T>GCA344046950CRB1c.3269T>G (p.Ile1090Arg)
c.2150T>G (p.Ile717Arg)
c.1412T>G (p.Ile471Arg)
c.2933T>G (p.Ile978Arg)
c.3197T>G (p.Ile1066Arg)
c.2129-468T>G (n.2129-468T>G)
n.3270T>G
n.3478T>G
c.2687T>G (p.Ile896Arg)
c.1712T>G (p.Ile571Arg)
c.2426T>G (p.Ile809Arg)
c.3404T>G (p.Ile1135Arg)
n.3222T>G
n.3430T>G
1g.197435132T=CA1218068807CRB1c.3269T= (p.Ile1090=)
c.2150T= (p.Ile717=)
c.1412T= (p.Ile471=)
c.2933T= (p.Ile978=)
c.3197T= (p.Ile1066=)
c.2129-468T= (n.2129-468T=)
n.3270T=
n.3478T=
c.2687T= (p.Ile896=)
c.1712T= (p.Ile571=)
c.2426T= (p.Ile809=)
c.3404T= (p.Ile1135=)
n.3222T=
n.3430T=
1g.197435133A>CCA422809406CRB1c.3270A>C (p.Ile1090=)
c.2151A>C (p.Ile717=)
c.1413A>C (p.Ile471=)
c.2934A>C (p.Ile978=)
c.3198A>C (p.Ile1066=)
c.2129-467A>C (n.2129-467A>C)
n.3271A>C
n.3479A>C
c.2688A>C (p.Ile896=)
c.1713A>C (p.Ile571=)
c.2427A>C (p.Ile809=)
c.3405A>C (p.Ile1135=)
n.3223A>C
n.3431A>C
1g.197435133A>GCA344046955CRB1c.3270A>G (p.Ile1090Met)
c.2151A>G (p.Ile717Met)
c.1413A>G (p.Ile471Met)
c.2934A>G (p.Ile978Met)
c.3198A>G (p.Ile1066Met)
c.2129-467A>G (n.2129-467A>G)
n.3271A>G
n.3479A>G
c.2688A>G (p.Ile896Met)
c.1713A>G (p.Ile571Met)
c.2427A>G (p.Ile809Met)
c.3405A>G (p.Ile1135Met)
n.3223A>G
n.3431A>G
 gnomAD v4
1g.197435133A>TCA422809401CRB1c.3270A>T (p.Ile1090=)
c.2151A>T (p.Ile717=)
c.1413A>T (p.Ile471=)
c.2934A>T (p.Ile978=)
c.3198A>T (p.Ile1066=)
c.2129-467A>T (n.2129-467A>T)
n.3271A>T
n.3479A>T
c.2688A>T (p.Ile896=)
c.1713A>T (p.Ile571=)
c.2427A>T (p.Ile809=)
c.3405A>T (p.Ile1135=)
n.3223A>T
n.3431A>T
 ClinVar
1g.197435134A>CCA344046957CRB1c.3271A>C (p.Lys1091Gln)
c.2152A>C (p.Lys718Gln)
c.1414A>C (p.Lys472Gln)
c.2935A>C (p.Lys979Gln)
c.3199A>C (p.Lys1067Gln)
c.2129-466A>C (n.2129-466A>C)
n.3272A>C
n.3480A>C
c.2689A>C (p.Lys897Gln)
c.1714A>C (p.Lys572Gln)
c.2428A>C (p.Lys810Gln)
c.3406A>C (p.Lys1136Gln)
n.3224A>C
n.3432A>C
1g.197435134A>GCA344046960CRB1c.3271A>G (p.Lys1091Glu)
c.2152A>G (p.Lys718Glu)
c.1414A>G (p.Lys472Glu)
c.2935A>G (p.Lys979Glu)
c.3199A>G (p.Lys1067Glu)
c.2129-466A>G (n.2129-466A>G)
n.3272A>G
n.3480A>G
c.2689A>G (p.Lys897Glu)
c.1714A>G (p.Lys572Glu)
c.2428A>G (p.Lys810Glu)
c.3406A>G (p.Lys1136Glu)
n.3224A>G
n.3432A>G
1g.197435134A>TCA344046962CRB1c.3271A>T (p.Lys1091Ter)
c.2152A>T (p.Lys718Ter)
c.1414A>T (p.Lys472Ter)
c.2935A>T (p.Lys979Ter)
c.3199A>T (p.Lys1067Ter)
c.2129-466A>T (n.2129-466A>T)
n.3272A>T
n.3480A>T
c.2689A>T (p.Lys897Ter)
c.1714A>T (p.Lys572Ter)
c.2428A>T (p.Lys810Ter)
c.3406A>T (p.Lys1136Ter)
n.3224A>T
n.3432A>T
 gnomAD v4
1g.197435135A>CCA344046967CRB1c.3272A>C (p.Lys1091Thr)
c.2153A>C (p.Lys718Thr)
c.1415A>C (p.Lys472Thr)
c.2936A>C (p.Lys979Thr)
c.3200A>C (p.Lys1067Thr)
c.2129-465A>C (n.2129-465A>C)
n.3273A>C
n.3481A>C
c.2690A>C (p.Lys897Thr)
c.1715A>C (p.Lys572Thr)
c.2429A>C (p.Lys810Thr)
c.3407A>C (p.Lys1136Thr)
n.3225A>C
n.3433A>C
1g.197435135A>GCA344046964CRB1c.3272A>G (p.Lys1091Arg)
c.2153A>G (p.Lys718Arg)
c.1415A>G (p.Lys472Arg)
c.2936A>G (p.Lys979Arg)
c.3200A>G (p.Lys1067Arg)
c.2129-465A>G (n.2129-465A>G)
n.3273A>G
n.3481A>G
c.2690A>G (p.Lys897Arg)
c.1715A>G (p.Lys572Arg)
c.2429A>G (p.Lys810Arg)
c.3407A>G (p.Lys1136Arg)
n.3225A>G
n.3433A>G
1g.197435135A>TCA344046966CRB1c.3272A>T (p.Lys1091Met)
c.2153A>T (p.Lys718Met)
c.1415A>T (p.Lys472Met)
c.2936A>T (p.Lys979Met)
c.3200A>T (p.Lys1067Met)
c.2129-465A>T (n.2129-465A>T)
n.3273A>T
n.3481A>T
c.2690A>T (p.Lys897Met)
c.1715A>T (p.Lys572Met)
c.2429A>T (p.Lys810Met)
c.3407A>T (p.Lys1136Met)
n.3225A>T
n.3433A>T
1g.197435136G>ACA422809418CRB1c.3273G>A (p.Lys1091=)
c.2154G>A (p.Lys718=)
c.1416G>A (p.Lys472=)
c.2937G>A (p.Lys979=)
c.3201G>A (p.Lys1067=)
c.2129-464G>A (n.2129-464G>A)
n.3274G>A
n.3482G>A
c.2691G>A (p.Lys897=)
c.1716G>A (p.Lys572=)
c.2430G>A (p.Lys810=)
c.3408G>A (p.Lys1136=)
n.3226G>A
n.3434G>A
 ClinVar dbSNP gnomAD v4
1g.197435136G>CCA344046968CRB1c.3273G>C (p.Lys1091Asn)
c.2154G>C (p.Lys718Asn)
c.1416G>C (p.Lys472Asn)
c.2937G>C (p.Lys979Asn)
c.3201G>C (p.Lys1067Asn)
c.2129-464G>C (n.2129-464G>C)
n.3274G>C
n.3482G>C
c.2691G>C (p.Lys897Asn)
c.1716G>C (p.Lys572Asn)
c.2430G>C (p.Lys810Asn)
c.3408G>C (p.Lys1136Asn)
n.3226G>C
n.3434G>C
1g.197435136G>TCA344046969CRB1c.3273G>T (p.Lys1091Asn)
c.2154G>T (p.Lys718Asn)
c.1416G>T (p.Lys472Asn)
c.2937G>T (p.Lys979Asn)
c.3201G>T (p.Lys1067Asn)
c.2129-464G>T (n.2129-464G>T)
n.3274G>T
n.3482G>T
c.2691G>T (p.Lys897Asn)
c.1716G>T (p.Lys572Asn)
c.2430G>T (p.Lys810Asn)
c.3408G>T (p.Lys1136Asn)
n.3226G>T
n.3434G>T
 gnomAD v4
1g.197435137G>ACA344046970CRB1c.3274G>A (p.Gly1092Ser)
c.2155G>A (p.Gly719Ser)
c.1417G>A (p.Gly473Ser)
c.2938G>A (p.Gly980Ser)
c.3202G>A (p.Gly1068Ser)
c.2129-463G>A (n.2129-463G>A)
n.3275G>A
n.3483G>A
c.2692G>A (p.Gly898Ser)
c.1717G>A (p.Gly573Ser)
c.2431G>A (p.Gly811Ser)
c.3409G>A (p.Gly1137Ser)
n.3227G>A
n.3435G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197435137G>CCA344046971CRB1c.3274G>C (p.Gly1092Arg)
c.2155G>C (p.Gly719Arg)
c.1417G>C (p.Gly473Arg)
c.2938G>C (p.Gly980Arg)
c.3202G>C (p.Gly1068Arg)
c.2129-463G>C (n.2129-463G>C)
n.3275G>C
n.3483G>C
c.2692G>C (p.Gly898Arg)
c.1717G>C (p.Gly573Arg)
c.2431G>C (p.Gly811Arg)
c.3409G>C (p.Gly1137Arg)
n.3227G>C
n.3435G>C
1g.197435137G=CA1218068808CRB1c.3274G= (p.Gly1092=)
c.2155G= (p.Gly719=)
c.1417G= (p.Gly473=)
c.2938G= (p.Gly980=)
c.3202G= (p.Gly1068=)
c.2129-463G= (n.2129-463G=)
n.3275G=
n.3483G=
c.2692G= (p.Gly898=)
c.1717G= (p.Gly573=)
c.2431G= (p.Gly811=)
c.3409G= (p.Gly1137=)
n.3227G=
n.3435G=
1g.197435137G>TCA344046972CRB1c.3274G>T (p.Gly1092Cys)
c.2155G>T (p.Gly719Cys)
c.1417G>T (p.Gly473Cys)
c.2938G>T (p.Gly980Cys)
c.3202G>T (p.Gly1068Cys)
c.2129-463G>T (n.2129-463G>T)
n.3275G>T
n.3483G>T
c.2692G>T (p.Gly898Cys)
c.1717G>T (p.Gly573Cys)
c.2431G>T (p.Gly811Cys)
c.3409G>T (p.Gly1137Cys)
n.3227G>T
n.3435G>T
1g.197435138G>ACA35907313CRB1c.3275G>A (p.Gly1092Asp)
c.2156G>A (p.Gly719Asp)
c.1418G>A (p.Gly473Asp)
c.2939G>A (p.Gly980Asp)
c.3203G>A (p.Gly1068Asp)
c.2129-462G>A (n.2129-462G>A)
n.3276G>A
n.3484G>A
c.2693G>A (p.Gly898Asp)
c.1718G>A (p.Gly573Asp)
c.2432G>A (p.Gly811Asp)
c.3410G>A (p.Gly1137Asp)
n.3228G>A
n.3436G>A
 ClinVar dbSNP gnomAD v4
1g.197435138G>CCA344046974CRB1c.3275G>C (p.Gly1092Ala)
c.2156G>C (p.Gly719Ala)
c.1418G>C (p.Gly473Ala)
c.2939G>C (p.Gly980Ala)
c.3203G>C (p.Gly1068Ala)
c.2129-462G>C (n.2129-462G>C)
n.3276G>C
n.3484G>C
c.2693G>C (p.Gly898Ala)
c.1718G>C (p.Gly573Ala)
c.2432G>C (p.Gly811Ala)
c.3410G>C (p.Gly1137Ala)
n.3228G>C
n.3436G>C
1g.197435138G=CA1218068809CRB1c.3275G= (p.Gly1092=)
c.2156G= (p.Gly719=)
c.1418G= (p.Gly473=)
c.2939G= (p.Gly980=)
c.3203G= (p.Gly1068=)
c.2129-462G= (n.2129-462G=)
n.3276G=
n.3484G=
c.2693G= (p.Gly898=)
c.1718G= (p.Gly573=)
c.2432G= (p.Gly811=)
c.3410G= (p.Gly1137=)
n.3228G=
n.3436G=
1g.197435138G>TCA344046973CRB1c.3275G>T (p.Gly1092Val)
c.2156G>T (p.Gly719Val)
c.1418G>T (p.Gly473Val)
c.2939G>T (p.Gly980Val)
c.3203G>T (p.Gly1068Val)
c.2129-462G>T (n.2129-462G>T)
n.3276G>T
n.3484G>T
c.2693G>T (p.Gly898Val)
c.1718G>T (p.Gly573Val)
c.2432G>T (p.Gly811Val)
c.3410G>T (p.Gly1137Val)
n.3228G>T
n.3436G>T
1g.197435139C>ACA1312308CRB1c.3276C>A (p.Gly1092=)
c.2157C>A (p.Gly719=)
c.1419C>A (p.Gly473=)
c.2940C>A (p.Gly980=)
c.3204C>A (p.Gly1068=)
c.2129-461C>A (n.2129-461C>A)
n.3277C>A
n.3485C>A
c.2694C>A (p.Gly898=)
c.1719C>A (p.Gly573=)
c.2433C>A (p.Gly811=)
c.3411C>A (p.Gly1137=)
n.3229C>A
n.3437C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435139C=CA1146000766CRB1c.3276C= (p.Gly1092=)
c.2157C= (p.Gly719=)
c.1419C= (p.Gly473=)
c.2940C= (p.Gly980=)
c.3204C= (p.Gly1068=)
c.2129-461C= (n.2129-461C=)
n.3277C=
n.3485C=
c.2694C= (p.Gly898=)
c.1719C= (p.Gly573=)
c.2433C= (p.Gly811=)
c.3411C= (p.Gly1137=)
n.3229C=
n.3437C=
1g.197435139C>GCA422809060CRB1c.3276C>G (p.Gly1092=)
c.2157C>G (p.Gly719=)
c.1419C>G (p.Gly473=)
c.2940C>G (p.Gly980=)
c.3204C>G (p.Gly1068=)
c.2129-461C>G (n.2129-461C>G)
n.3277C>G
n.3485C>G
c.2694C>G (p.Gly898=)
c.1719C>G (p.Gly573=)
c.2433C>G (p.Gly811=)
c.3411C>G (p.Gly1137=)
n.3229C>G
n.3437C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197435139C>TCA422809059CRB1c.3276C>T (p.Gly1092=)
c.2157C>T (p.Gly719=)
c.1419C>T (p.Gly473=)
c.2940C>T (p.Gly980=)
c.3204C>T (p.Gly1068=)
c.2129-461C>T (n.2129-461C>T)
n.3277C>T
n.3485C>T
c.2694C>T (p.Gly898=)
c.1719C>T (p.Gly573=)
c.2433C>T (p.Gly811=)
c.3411C>T (p.Gly1137=)
n.3229C>T
n.3437C>T
 dbSNP gnomAD v4
1g.197435140C>ACA344046975CRB1c.3277C>A (p.Leu1093Met)
c.2158C>A (p.Leu720Met)
c.1420C>A (p.Leu474Met)
c.2941C>A (p.Leu981Met)
c.3205C>A (p.Leu1069Met)
c.2129-460C>A (n.2129-460C>A)
n.3278C>A
n.3486C>A
c.2695C>A (p.Leu899Met)
c.1720C>A (p.Leu574Met)
c.2434C>A (p.Leu812Met)
c.3412C>A (p.Leu1138Met)
n.3230C>A
n.3438C>A
1g.197435140C=CA1218068810CRB1c.3277C= (p.Leu1093=)
c.2158C= (p.Leu720=)
c.1420C= (p.Leu474=)
c.2941C= (p.Leu981=)
c.3205C= (p.Leu1069=)
c.2129-460C= (n.2129-460C=)
n.3278C=
n.3486C=
c.2695C= (p.Leu899=)
c.1720C= (p.Leu574=)
c.2434C= (p.Leu812=)
c.3412C= (p.Leu1138=)
n.3230C=
n.3438C=
1g.197435140C>GCA344046976CRB1c.3277C>G (p.Leu1093Val)
c.2158C>G (p.Leu720Val)
c.1420C>G (p.Leu474Val)
c.2941C>G (p.Leu981Val)
c.3205C>G (p.Leu1069Val)
c.2129-460C>G (n.2129-460C>G)
n.3278C>G
n.3486C>G
c.2695C>G (p.Leu899Val)
c.1720C>G (p.Leu574Val)
c.2434C>G (p.Leu812Val)
c.3412C>G (p.Leu1138Val)
n.3230C>G
n.3438C>G
 dbSNP gnomAD v4
1g.197435140C>TCA35907324CRB1c.3277C>T (p.Leu1093=)
c.2158C>T (p.Leu720=)
c.1420C>T (p.Leu474=)
c.2941C>T (p.Leu981=)
c.3205C>T (p.Leu1069=)
c.2129-460C>T (n.2129-460C>T)
n.3278C>T
n.3486C>T
c.2695C>T (p.Leu899=)
c.1720C>T (p.Leu574=)
c.2434C>T (p.Leu812=)
c.3412C>T (p.Leu1138=)
n.3230C>T
n.3438C>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
1g.197435141T>ACA344046977CRB1c.3278T>A (p.Leu1093Gln)
c.2159T>A (p.Leu720Gln)
c.1421T>A (p.Leu474Gln)
c.2942T>A (p.Leu981Gln)
c.3206T>A (p.Leu1069Gln)
c.2129-459T>A (n.2129-459T>A)
n.3279T>A
n.3487T>A
c.2696T>A (p.Leu899Gln)
c.1721T>A (p.Leu574Gln)
c.2435T>A (p.Leu812Gln)
c.3413T>A (p.Leu1138Gln)
n.3231T>A
n.3439T>A
1g.197435141T>CCA344046978CRB1c.3278T>C (p.Leu1093Pro)
c.2159T>C (p.Leu720Pro)
c.1421T>C (p.Leu474Pro)
c.2942T>C (p.Leu981Pro)
c.3206T>C (p.Leu1069Pro)
c.2129-459T>C (n.2129-459T>C)
n.3279T>C
n.3487T>C
c.2696T>C (p.Leu899Pro)
c.1721T>C (p.Leu574Pro)
c.2435T>C (p.Leu812Pro)
c.3413T>C (p.Leu1138Pro)
n.3231T>C
n.3439T>C
 gnomAD v4
1g.197435141T>GCA344046979CRB1c.3278T>G (p.Leu1093Arg)
c.2159T>G (p.Leu720Arg)
c.1421T>G (p.Leu474Arg)
c.2942T>G (p.Leu981Arg)
c.3206T>G (p.Leu1069Arg)
c.2129-459T>G (n.2129-459T>G)
n.3279T>G
n.3487T>G
c.2696T>G (p.Leu899Arg)
c.1721T>G (p.Leu574Arg)
c.2435T>G (p.Leu812Arg)
c.3413T>G (p.Leu1138Arg)
n.3231T>G
n.3439T>G
1g.197435142G>ACA422809078CRB1c.3279G>A (p.Leu1093=)
c.2160G>A (p.Leu720=)
c.1422G>A (p.Leu474=)
c.2943G>A (p.Leu981=)
c.3207G>A (p.Leu1069=)
c.2129-458G>A (n.2129-458G>A)
n.3280G>A
n.3488G>A
c.2697G>A (p.Leu899=)
c.1722G>A (p.Leu574=)
c.2436G>A (p.Leu812=)
c.3414G>A (p.Leu1138=)
n.3232G>A
n.3440G>A
 ClinVar gnomAD v4
1g.197435142G>CCA422809079CRB1c.3279G>C (p.Leu1093=)
c.2160G>C (p.Leu720=)
c.1422G>C (p.Leu474=)
c.2943G>C (p.Leu981=)
c.3207G>C (p.Leu1069=)
c.2129-458G>C (n.2129-458G>C)
n.3280G>C
n.3488G>C
c.2697G>C (p.Leu899=)
c.1722G>C (p.Leu574=)
c.2436G>C (p.Leu812=)
c.3414G>C (p.Leu1138=)
n.3232G>C
n.3440G>C
1g.197435142G>TCA422809080CRB1c.3279G>T (p.Leu1093=)
c.2160G>T (p.Leu720=)
c.1422G>T (p.Leu474=)
c.2943G>T (p.Leu981=)
c.3207G>T (p.Leu1069=)
c.2129-458G>T (n.2129-458G>T)
n.3280G>T
n.3488G>T
c.2697G>T (p.Leu899=)
c.1722G>T (p.Leu574=)
c.2436G>T (p.Leu812=)
c.3414G>T (p.Leu1138=)
n.3232G>T
n.3440G>T
1g.197435143C>ACA344046980CRB1c.3280C>A (p.Gln1094Lys)
c.2161C>A (p.Gln721Lys)
c.1423C>A (p.Gln475Lys)
c.2944C>A (p.Gln982Lys)
c.3208C>A (p.Gln1070Lys)
c.2129-457C>A (n.2129-457C>A)
n.3281C>A
n.3489C>A
c.2698C>A (p.Gln900Lys)
c.1723C>A (p.Gln575Lys)
c.2437C>A (p.Gln813Lys)
c.3415C>A (p.Gln1139Lys)
n.3233C>A
n.3441C>A
1g.197435143C>GCA344046982CRB1c.3280C>G (p.Gln1094Glu)
c.2161C>G (p.Gln721Glu)
c.1423C>G (p.Gln475Glu)
c.2944C>G (p.Gln982Glu)
c.3208C>G (p.Gln1070Glu)
c.2129-457C>G (n.2129-457C>G)
n.3281C>G
n.3489C>G
c.2698C>G (p.Gln900Glu)
c.1723C>G (p.Gln575Glu)
c.2437C>G (p.Gln813Glu)
c.3415C>G (p.Gln1139Glu)
n.3233C>G
n.3441C>G
1g.197435143C>TCA344046981CRB1c.3280C>T (p.Gln1094Ter)
c.2161C>T (p.Gln721Ter)
c.1423C>T (p.Gln475Ter)
c.2944C>T (p.Gln982Ter)
c.3208C>T (p.Gln1070Ter)
c.2129-457C>T (n.2129-457C>T)
n.3281C>T
n.3489C>T
c.2698C>T (p.Gln900Ter)
c.1723C>T (p.Gln575Ter)
c.2437C>T (p.Gln813Ter)
c.3415C>T (p.Gln1139Ter)
n.3233C>T
n.3441C>T
 gnomAD v4
1g.197435144A>CCA344046983CRB1c.3281A>C (p.Gln1094Pro)
c.2162A>C (p.Gln721Pro)
c.1424A>C (p.Gln475Pro)
c.2945A>C (p.Gln982Pro)
c.3209A>C (p.Gln1070Pro)
c.2129-456A>C (n.2129-456A>C)
n.3282A>C
n.3490A>C
c.2699A>C (p.Gln900Pro)
c.1724A>C (p.Gln575Pro)
c.2438A>C (p.Gln813Pro)
c.3416A>C (p.Gln1139Pro)
n.3234A>C
n.3442A>C
1g.197435144A>GCA344046984CRB1c.3281A>G (p.Gln1094Arg)
c.2162A>G (p.Gln721Arg)
c.1424A>G (p.Gln475Arg)
c.2945A>G (p.Gln982Arg)
c.3209A>G (p.Gln1070Arg)
c.2129-456A>G (n.2129-456A>G)
n.3282A>G
n.3490A>G
c.2699A>G (p.Gln900Arg)
c.1724A>G (p.Gln575Arg)
c.2438A>G (p.Gln813Arg)
c.3416A>G (p.Gln1139Arg)
n.3234A>G
n.3442A>G
 gnomAD v4
1g.197435144A>TCA344046985CRB1c.3281A>T (p.Gln1094Leu)
c.2162A>T (p.Gln721Leu)
c.1424A>T (p.Gln475Leu)
c.2945A>T (p.Gln982Leu)
c.3209A>T (p.Gln1070Leu)
c.2129-456A>T (n.2129-456A>T)
n.3282A>T
n.3490A>T
c.2699A>T (p.Gln900Leu)
c.1724A>T (p.Gln575Leu)
c.2438A>T (p.Gln813Leu)
c.3416A>T (p.Gln1139Leu)
n.3234A>T
n.3442A>T
1g.197435145delCA2649670642CRB1c.3282del (p.Cys1096ValfsTer2)
c.2163del (p.Cys723ValfsTer2)
c.1425del (p.Cys477ValfsTer2)
c.2946del (p.Cys984ValfsTer2)
c.3210del (p.Cys1072ValfsTer2)
c.2129-455del (n.2129-455del)
n.3283del
n.3491del
c.2700del (p.Cys902ValfsTer2)
c.1725del (p.Cys577ValfsTer2)
c.2439del (p.Cys815ValfsTer2)
c.3417del (p.Cys1141ValfsTer2)
n.3235del
n.3443del
 gnomAD v4
1g.197435145A=CA1218068811CRB1c.3282A= (p.Gln1094=)
c.2163A= (p.Gln721=)
c.1425A= (p.Gln475=)
c.2946A= (p.Gln982=)
c.3210A= (p.Gln1070=)
c.2129-455A= (n.2129-455A=)
n.3283A=
n.3491A=
c.2700A= (p.Gln900=)
c.1725A= (p.Gln575=)
c.2439A= (p.Gln813=)
c.3417A= (p.Gln1139=)
n.3235A=
n.3443A=
1g.197435145A>CCA1312310CRB1c.3282A>C (p.Gln1094His)
c.2163A>C (p.Gln721His)
c.1425A>C (p.Gln475His)
c.2946A>C (p.Gln982His)
c.3210A>C (p.Gln1070His)
c.2129-455A>C (n.2129-455A>C)
n.3283A>C
n.3491A>C
c.2700A>C (p.Gln900His)
c.1725A>C (p.Gln575His)
c.2439A>C (p.Gln813His)
c.3417A>C (p.Gln1139His)
n.3235A>C
n.3443A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435145A>GCA1312309CRB1c.3282A>G (p.Gln1094=)
c.2163A>G (p.Gln721=)
c.1425A>G (p.Gln475=)
c.2946A>G (p.Gln982=)
c.3210A>G (p.Gln1070=)
c.2129-455A>G (n.2129-455A>G)
n.3283A>G
n.3491A>G
c.2700A>G (p.Gln900=)
c.1725A>G (p.Gln575=)
c.2439A>G (p.Gln813=)
c.3417A>G (p.Gln1139=)
n.3235A>G
n.3443A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435145A>TCA344046986CRB1c.3282A>T (p.Gln1094His)
c.2163A>T (p.Gln721His)
c.1425A>T (p.Gln475His)
c.2946A>T (p.Gln982His)
c.3210A>T (p.Gln1070His)
c.2129-455A>T (n.2129-455A>T)
n.3283A>T
n.3491A>T
c.2700A>T (p.Gln900His)
c.1725A>T (p.Gln575His)
c.2439A>T (p.Gln813His)
c.3417A>T (p.Gln1139His)
n.3235A>T
n.3443A>T
 ClinVar dbSNP gnomAD v4
1g.197435146G>ACA1312311CRB1c.3283G>A (p.Gly1095Arg)
c.2164G>A (p.Gly722Arg)
c.1426G>A (p.Gly476Arg)
c.2947G>A (p.Gly983Arg)
c.3211G>A (p.Gly1071Arg)
c.2129-454G>A (n.2129-454G>A)
n.3284G>A
n.3492G>A
c.2701G>A (p.Gly901Arg)
c.1726G>A (p.Gly576Arg)
c.2440G>A (p.Gly814Arg)
c.3418G>A (p.Gly1140Arg)
n.3236G>A
n.3444G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435146G>CCA344046987CRB1c.3283G>C (p.Gly1095Arg)
c.2164G>C (p.Gly722Arg)
c.1426G>C (p.Gly476Arg)
c.2947G>C (p.Gly983Arg)
c.3211G>C (p.Gly1071Arg)
c.2129-454G>C (n.2129-454G>C)
n.3284G>C
n.3492G>C
c.2701G>C (p.Gly901Arg)
c.1726G>C (p.Gly576Arg)
c.2440G>C (p.Gly814Arg)
c.3418G>C (p.Gly1140Arg)
n.3236G>C
n.3444G>C
1g.197435146G=CA1218068812CRB1c.3283G= (p.Gly1095=)
c.2164G= (p.Gly722=)
c.1426G= (p.Gly476=)
c.2947G= (p.Gly983=)
c.3211G= (p.Gly1071=)
c.2129-454G= (n.2129-454G=)
n.3284G=
n.3492G=
c.2701G= (p.Gly901=)
c.1726G= (p.Gly576=)
c.2440G= (p.Gly814=)
c.3418G= (p.Gly1140=)
n.3236G=
n.3444G=
1g.197435146G>TCA344046988CRB1c.3283G>T (p.Gly1095Trp)
c.2164G>T (p.Gly722Trp)
c.1426G>T (p.Gly476Trp)
c.2947G>T (p.Gly983Trp)
c.3211G>T (p.Gly1071Trp)
c.2129-454G>T (n.2129-454G>T)
n.3284G>T
n.3492G>T
c.2701G>T (p.Gly901Trp)
c.1726G>T (p.Gly576Trp)
c.2440G>T (p.Gly814Trp)
c.3418G>T (p.Gly1140Trp)
n.3236G>T
n.3444G>T
 COSMIC COSMIC
1g.197435147G>ACA1312312CRB1c.3284G>A (p.Gly1095Glu)
c.2165G>A (p.Gly722Glu)
c.1427G>A (p.Gly476Glu)
c.2948G>A (p.Gly983Glu)
c.3212G>A (p.Gly1071Glu)
c.2129-453G>A (n.2129-453G>A)
n.3285G>A
n.3493G>A
c.2702G>A (p.Gly901Glu)
c.1727G>A (p.Gly576Glu)
c.2441G>A (p.Gly814Glu)
c.3419G>A (p.Gly1140Glu)
n.3237G>A
n.3445G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435147G>CCA344046989CRB1c.3284G>C (p.Gly1095Ala)
c.2165G>C (p.Gly722Ala)
c.1427G>C (p.Gly476Ala)
c.2948G>C (p.Gly983Ala)
c.3212G>C (p.Gly1071Ala)
c.2129-453G>C (n.2129-453G>C)
n.3285G>C
n.3493G>C
c.2702G>C (p.Gly901Ala)
c.1727G>C (p.Gly576Ala)
c.2441G>C (p.Gly814Ala)
c.3419G>C (p.Gly1140Ala)
n.3237G>C
n.3445G>C
 COSMIC COSMIC
1g.197435147G=CA1218068813CRB1c.3284G= (p.Gly1095=)
c.2165G= (p.Gly722=)
c.1427G= (p.Gly476=)
c.2948G= (p.Gly983=)
c.3212G= (p.Gly1071=)
c.2129-453G= (n.2129-453G=)
n.3285G=
n.3493G=
c.2702G= (p.Gly901=)
c.1727G= (p.Gly576=)
c.2441G= (p.Gly814=)
c.3419G= (p.Gly1140=)
n.3237G=
n.3445G=
1g.197435147G>TCA344046990CRB1c.3284G>T (p.Gly1095Val)
c.2165G>T (p.Gly722Val)
c.1427G>T (p.Gly476Val)
c.2948G>T (p.Gly983Val)
c.3212G>T (p.Gly1071Val)
c.2129-453G>T (n.2129-453G>T)
n.3285G>T
n.3493G>T
c.2702G>T (p.Gly901Val)
c.1727G>T (p.Gly576Val)
c.2441G>T (p.Gly814Val)
c.3419G>T (p.Gly1140Val)
n.3237G>T
n.3445G>T
1g.197435148G>ACA422809089CRB1c.3285G>A (p.Gly1095=)
c.2166G>A (p.Gly722=)
c.1428G>A (p.Gly476=)
c.2949G>A (p.Gly983=)
c.3213G>A (p.Gly1071=)
c.2129-452G>A (n.2129-452G>A)
n.3286G>A
n.3494G>A
c.2703G>A (p.Gly901=)
c.1728G>A (p.Gly576=)
c.2442G>A (p.Gly814=)
c.3420G>A (p.Gly1140=)
n.3238G>A
n.3446G>A
 dbSNP gnomAD v4
1g.197435148G>CCA35907364CRB1c.3285G>C (p.Gly1095=)
c.2166G>C (p.Gly722=)
c.1428G>C (p.Gly476=)
c.2949G>C (p.Gly983=)
c.3213G>C (p.Gly1071=)
c.2129-452G>C (n.2129-452G>C)
n.3286G>C
n.3494G>C
c.2703G>C (p.Gly901=)
c.1728G>C (p.Gly576=)
c.2442G>C (p.Gly814=)
c.3420G>C (p.Gly1140=)
n.3238G>C
n.3446G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197435148G=CA1218068814CRB1c.3285G= (p.Gly1095=)
c.2166G= (p.Gly722=)
c.1428G= (p.Gly476=)
c.2949G= (p.Gly983=)
c.3213G= (p.Gly1071=)
c.2129-452G= (n.2129-452G=)
n.3286G=
n.3494G=
c.2703G= (p.Gly901=)
c.1728G= (p.Gly576=)
c.2442G= (p.Gly814=)
c.3420G= (p.Gly1140=)
n.3238G=
n.3446G=
1g.197435148G>TCA422809092CRB1c.3285G>T (p.Gly1095=)
c.2166G>T (p.Gly722=)
c.1428G>T (p.Gly476=)
c.2949G>T (p.Gly983=)
c.3213G>T (p.Gly1071=)
c.2129-452G>T (n.2129-452G>T)
n.3286G>T
n.3494G>T
c.2703G>T (p.Gly901=)
c.1728G>T (p.Gly576=)
c.2442G>T (p.Gly814=)
c.3420G>T (p.Gly1140=)
n.3238G>T
n.3446G>T
 ClinVar dbSNP gnomAD v4
1g.197435149T>ACA344046992CRB1c.3286T>A (p.Cys1096Ser)
c.2167T>A (p.Cys723Ser)
c.1429T>A (p.Cys477Ser)
c.2950T>A (p.Cys984Ser)
c.3214T>A (p.Cys1072Ser)
c.2129-451T>A (n.2129-451T>A)
n.3287T>A
n.3495T>A
c.2704T>A (p.Cys902Ser)
c.1729T>A (p.Cys577Ser)
c.2443T>A (p.Cys815Ser)
c.3421T>A (p.Cys1141Ser)
n.3239T>A
n.3447T>A
1g.197435149T>CCA344046993CRB1c.3286T>C (p.Cys1096Arg)
c.2167T>C (p.Cys723Arg)
c.1429T>C (p.Cys477Arg)
c.2950T>C (p.Cys984Arg)
c.3214T>C (p.Cys1072Arg)
c.2129-451T>C (n.2129-451T>C)
n.3287T>C
n.3495T>C
c.2704T>C (p.Cys902Arg)
c.1729T>C (p.Cys577Arg)
c.2443T>C (p.Cys815Arg)
c.3421T>C (p.Cys1141Arg)
n.3239T>C
n.3447T>C
1g.197435149T>GCA344046991CRB1c.3286T>G (p.Cys1096Gly)
c.2167T>G (p.Cys723Gly)
c.1429T>G (p.Cys477Gly)
c.2950T>G (p.Cys984Gly)
c.3214T>G (p.Cys1072Gly)
c.2129-451T>G (n.2129-451T>G)
n.3287T>G
n.3495T>G
c.2704T>G (p.Cys902Gly)
c.1729T>G (p.Cys577Gly)
c.2443T>G (p.Cys815Gly)
c.3421T>G (p.Cys1141Gly)
n.3239T>G
n.3447T>G
1g.197435150G>ACA344046994CRB1c.3287G>A (p.Cys1096Tyr)
c.2168G>A (p.Cys723Tyr)
c.1430G>A (p.Cys477Tyr)
c.2951G>A (p.Cys984Tyr)
c.3215G>A (p.Cys1072Tyr)
c.2129-450G>A (n.2129-450G>A)
n.3288G>A
n.3496G>A
c.2705G>A (p.Cys902Tyr)
c.1730G>A (p.Cys577Tyr)
c.2444G>A (p.Cys815Tyr)
c.3422G>A (p.Cys1141Tyr)
n.3240G>A
n.3448G>A
1g.197435150G>CCA344046995CRB1c.3287G>C (p.Cys1096Ser)
c.2168G>C (p.Cys723Ser)
c.1430G>C (p.Cys477Ser)
c.2951G>C (p.Cys984Ser)
c.3215G>C (p.Cys1072Ser)
c.2129-450G>C (n.2129-450G>C)
n.3288G>C
n.3496G>C
c.2705G>C (p.Cys902Ser)
c.1730G>C (p.Cys577Ser)
c.2444G>C (p.Cys815Ser)
c.3422G>C (p.Cys1141Ser)
n.3240G>C
n.3448G>C
1g.197435150G>TCA344046996CRB1c.3287G>T (p.Cys1096Phe)
c.2168G>T (p.Cys723Phe)
c.1430G>T (p.Cys477Phe)
c.2951G>T (p.Cys984Phe)
c.3215G>T (p.Cys1072Phe)
c.2129-450G>T (n.2129-450G>T)
n.3288G>T
n.3496G>T
c.2705G>T (p.Cys902Phe)
c.1730G>T (p.Cys577Phe)
c.2444G>T (p.Cys815Phe)
c.3422G>T (p.Cys1141Phe)
n.3240G>T
n.3448G>T
1g.197435151T>ACA344046997CRB1c.3288T>A (p.Cys1096Ter)
c.2169T>A (p.Cys723Ter)
c.1431T>A (p.Cys477Ter)
c.2952T>A (p.Cys984Ter)
c.3216T>A (p.Cys1072Ter)
c.2129-449T>A (n.2129-449T>A)
n.3289T>A
n.3497T>A
c.2706T>A (p.Cys902Ter)
c.1731T>A (p.Cys577Ter)
c.2445T>A (p.Cys815Ter)
c.3423T>A (p.Cys1141Ter)
n.3241T>A
n.3449T>A
 ClinVar
1g.197435151T>CCA422809095CRB1c.3288T>C (p.Cys1096=)
c.2169T>C (p.Cys723=)
c.1431T>C (p.Cys477=)
c.2952T>C (p.Cys984=)
c.3216T>C (p.Cys1072=)
c.2129-449T>C (n.2129-449T>C)
n.3289T>C
n.3497T>C
c.2706T>C (p.Cys902=)
c.1731T>C (p.Cys577=)
c.2445T>C (p.Cys815=)
c.3423T>C (p.Cys1141=)
n.3241T>C
n.3449T>C
 gnomAD v4
1g.197435151T>GCA344046998CRB1c.3288T>G (p.Cys1096Trp)
c.2169T>G (p.Cys723Trp)
c.1431T>G (p.Cys477Trp)
c.2952T>G (p.Cys984Trp)
c.3216T>G (p.Cys1072Trp)
c.2129-449T>G (n.2129-449T>G)
n.3289T>G
n.3497T>G
c.2706T>G (p.Cys902Trp)
c.1731T>G (p.Cys577Trp)
c.2445T>G (p.Cys815Trp)
c.3423T>G (p.Cys1141Trp)
n.3241T>G
n.3449T>G
1g.197435152C>ACA344047000CRB1c.3289C>A (p.Leu1097Ile)
c.2170C>A (p.Leu724Ile)
c.1432C>A (p.Leu478Ile)
c.2953C>A (p.Leu985Ile)
c.3217C>A (p.Leu1073Ile)
c.2129-448C>A (n.2129-448C>A)
n.3290C>A
n.3498C>A
c.2707C>A (p.Leu903Ile)
c.1732C>A (p.Leu578Ile)
c.2446C>A (p.Leu816Ile)
c.3424C>A (p.Leu1142Ile)
n.3242C>A
n.3450C>A
1g.197435152C=CA1218068815CRB1c.3289C= (p.Leu1097=)
c.2170C= (p.Leu724=)
c.1432C= (p.Leu478=)
c.2953C= (p.Leu985=)
c.3217C= (p.Leu1073=)
c.2129-448C= (n.2129-448C=)
n.3290C=
n.3498C=
c.2707C= (p.Leu903=)
c.1732C= (p.Leu578=)
c.2446C= (p.Leu816=)
c.3424C= (p.Leu1142=)
n.3242C=
n.3450C=
1g.197435152C>GCA344046999CRB1c.3289C>G (p.Leu1097Val)
c.2170C>G (p.Leu724Val)
c.1432C>G (p.Leu478Val)
c.2953C>G (p.Leu985Val)
c.3217C>G (p.Leu1073Val)
c.2129-448C>G (n.2129-448C>G)
n.3290C>G
n.3498C>G
c.2707C>G (p.Leu903Val)
c.1732C>G (p.Leu578Val)
c.2446C>G (p.Leu816Val)
c.3424C>G (p.Leu1142Val)
n.3242C>G
n.3450C>G
 dbSNP
1g.197435152C>TCA422809096CRB1c.3289C>T (p.Leu1097=)
c.2170C>T (p.Leu724=)
c.1432C>T (p.Leu478=)
c.2953C>T (p.Leu985=)
c.3217C>T (p.Leu1073=)
c.2129-448C>T (n.2129-448C>T)
n.3290C>T
n.3498C>T
c.2707C>T (p.Leu903=)
c.1732C>T (p.Leu578=)
c.2446C>T (p.Leu816=)
c.3424C>T (p.Leu1142=)
n.3242C>T
n.3450C>T
1g.197435153T>ACA344047001CRB1c.3290T>A (p.Leu1097Gln)
c.2171T>A (p.Leu724Gln)
c.1433T>A (p.Leu478Gln)
c.2954T>A (p.Leu985Gln)
c.3218T>A (p.Leu1073Gln)
c.2129-447T>A (n.2129-447T>A)
n.3291T>A
n.3499T>A
c.2708T>A (p.Leu903Gln)
c.1733T>A (p.Leu578Gln)
c.2447T>A (p.Leu816Gln)
c.3425T>A (p.Leu1142Gln)
n.3243T>A
n.3451T>A
1g.197435153T>CCA344047002CRB1c.3290T>C (p.Leu1097Pro)
c.2171T>C (p.Leu724Pro)
c.1433T>C (p.Leu478Pro)
c.2954T>C (p.Leu985Pro)
c.3218T>C (p.Leu1073Pro)
c.2129-447T>C (n.2129-447T>C)
n.3291T>C
n.3499T>C
c.2708T>C (p.Leu903Pro)
c.1733T>C (p.Leu578Pro)
c.2447T>C (p.Leu816Pro)
c.3425T>C (p.Leu1142Pro)
n.3243T>C
n.3451T>C
1g.197435153T>GCA344047003CRB1c.3290T>G (p.Leu1097Arg)
c.2171T>G (p.Leu724Arg)
c.1433T>G (p.Leu478Arg)
c.2954T>G (p.Leu985Arg)
c.3218T>G (p.Leu1073Arg)
c.2129-447T>G (n.2129-447T>G)
n.3291T>G
n.3499T>G
c.2708T>G (p.Leu903Arg)
c.1733T>G (p.Leu578Arg)
c.2447T>G (p.Leu816Arg)
c.3425T>G (p.Leu1142Arg)
n.3243T>G
n.3451T>G
 gnomAD v4
1g.197435153dupCA2649670643CRB1c.3290dup (p.Ser1098LysfsTer14)
c.2171dup (p.Ser725LysfsTer14)
c.1433dup (p.Ser479LysfsTer14)
c.2954dup (p.Ser986LysfsTer14)
c.3218dup (p.Ser1074LysfsTer14)
c.2129-447dup (n.2129-447dup)
n.3291dup
n.3499dup
c.2708dup (p.Ser904LysfsTer14)
c.1733dup (p.Ser579LysfsTer14)
c.2447dup (p.Ser817LysfsTer14)
c.3425dup (p.Ser1143LysfsTer14)
n.3243dup
n.3451dup
 gnomAD v4
1g.197435154A>CCA422809102CRB1c.3291A>C (p.Leu1097=)
c.2172A>C (p.Leu724=)
c.1434A>C (p.Leu478=)
c.2955A>C (p.Leu985=)
c.3219A>C (p.Leu1073=)
c.2129-446A>C (n.2129-446A>C)
n.3292A>C
n.3500A>C
c.2709A>C (p.Leu903=)
c.1734A>C (p.Leu578=)
c.2448A>C (p.Leu816=)
c.3426A>C (p.Leu1142=)
n.3244A>C
n.3452A>C
1g.197435154A>GCA422809104CRB1c.3291A>G (p.Leu1097=)
c.2172A>G (p.Leu724=)
c.1434A>G (p.Leu478=)
c.2955A>G (p.Leu985=)
c.3219A>G (p.Leu1073=)
c.2129-446A>G (n.2129-446A>G)
n.3292A>G
n.3500A>G
c.2709A>G (p.Leu903=)
c.1734A>G (p.Leu578=)
c.2448A>G (p.Leu816=)
c.3426A>G (p.Leu1142=)
n.3244A>G
n.3452A>G
1g.197435154A>TCA422809105CRB1c.3291A>T (p.Leu1097=)
c.2172A>T (p.Leu724=)
c.1434A>T (p.Leu478=)
c.2955A>T (p.Leu985=)
c.3219A>T (p.Leu1073=)
c.2129-446A>T (n.2129-446A>T)
n.3292A>T
n.3500A>T
c.2709A>T (p.Leu903=)
c.1734A>T (p.Leu578=)
c.2448A>T (p.Leu816=)
c.3426A>T (p.Leu1142=)
n.3244A>T
n.3452A>T
1g.197435155delCA2580061938CRB1c.3292del (p.Ser1098ValfsTer3)
c.2173del (p.Ser725ValfsTer3)
c.1435del (p.Ser479ValfsTer3)
c.2956del (p.Ser986ValfsTer3)
c.3220del (p.Ser1074ValfsTer3)
c.2129-445del (n.2129-445del)
n.3293del
n.3501del
c.2710del (p.Ser904ValfsTer3)
c.1735del (p.Ser579ValfsTer3)
c.2449del (p.Ser817ValfsTer3)
c.3427del (p.Ser1143ValfsTer3)
n.3245del
n.3453del
 ClinVar
1g.197435155A>CCA344047004CRB1c.3292A>C (p.Ser1098Arg)
c.2173A>C (p.Ser725Arg)
c.1435A>C (p.Ser479Arg)
c.2956A>C (p.Ser986Arg)
c.3220A>C (p.Ser1074Arg)
c.2129-445A>C (n.2129-445A>C)
n.3293A>C
n.3501A>C
c.2710A>C (p.Ser904Arg)
c.1735A>C (p.Ser579Arg)
c.2449A>C (p.Ser817Arg)
c.3427A>C (p.Ser1143Arg)
n.3245A>C
n.3453A>C
1g.197435155A>GCA344047005CRB1c.3292A>G (p.Ser1098Gly)
c.2173A>G (p.Ser725Gly)
c.1435A>G (p.Ser479Gly)
c.2956A>G (p.Ser986Gly)
c.3220A>G (p.Ser1074Gly)
c.2129-445A>G (n.2129-445A>G)
n.3293A>G
n.3501A>G
c.2710A>G (p.Ser904Gly)
c.1735A>G (p.Ser579Gly)
c.2449A>G (p.Ser817Gly)
c.3427A>G (p.Ser1143Gly)
n.3245A>G
n.3453A>G
1g.197435155A>TCA344047006CRB1c.3292A>T (p.Ser1098Cys)
c.2173A>T (p.Ser725Cys)
c.1435A>T (p.Ser479Cys)
c.2956A>T (p.Ser986Cys)
c.3220A>T (p.Ser1074Cys)
c.2129-445A>T (n.2129-445A>T)
n.3293A>T
n.3501A>T
c.2710A>T (p.Ser904Cys)
c.1735A>T (p.Ser579Cys)
c.2449A>T (p.Ser817Cys)
c.3427A>T (p.Ser1143Cys)
n.3245A>T
n.3453A>T
1g.197435156G>ACA344047007CRB1c.3293G>A (p.Ser1098Asn)
c.2174G>A (p.Ser725Asn)
c.1436G>A (p.Ser479Asn)
c.2957G>A (p.Ser986Asn)
c.3221G>A (p.Ser1074Asn)
c.2129-444G>A (n.2129-444G>A)
n.3294G>A
n.3502G>A
c.2711G>A (p.Ser904Asn)
c.1736G>A (p.Ser579Asn)
c.2450G>A (p.Ser817Asn)
c.3428G>A (p.Ser1143Asn)
n.3246G>A
n.3454G>A
 gnomAD v4
1g.197435156G>CCA344047009CRB1c.3293G>C (p.Ser1098Thr)
c.2174G>C (p.Ser725Thr)
c.1436G>C (p.Ser479Thr)
c.2957G>C (p.Ser986Thr)
c.3221G>C (p.Ser1074Thr)
c.2129-444G>C (n.2129-444G>C)
n.3294G>C
n.3502G>C
c.2711G>C (p.Ser904Thr)
c.1736G>C (p.Ser579Thr)
c.2450G>C (p.Ser817Thr)
c.3428G>C (p.Ser1143Thr)
n.3246G>C
n.3454G>C
 dbSNP gnomAD v4
1g.197435156G=CA1218068816CRB1c.3293G= (p.Ser1098=)
c.2174G= (p.Ser725=)
c.1436G= (p.Ser479=)
c.2957G= (p.Ser986=)
c.3221G= (p.Ser1074=)
c.2129-444G= (n.2129-444G=)
n.3294G=
n.3502G=
c.2711G= (p.Ser904=)
c.1736G= (p.Ser579=)
c.2450G= (p.Ser817=)
c.3428G= (p.Ser1143=)
n.3246G=
n.3454G=
1g.197435156G>TCA344047008CRB1c.3293G>T (p.Ser1098Ile)
c.2174G>T (p.Ser725Ile)
c.1436G>T (p.Ser479Ile)
c.2957G>T (p.Ser986Ile)
c.3221G>T (p.Ser1074Ile)
c.2129-444G>T (n.2129-444G>T)
n.3294G>T
n.3502G>T
c.2711G>T (p.Ser904Ile)
c.1736G>T (p.Ser579Ile)
c.2450G>T (p.Ser817Ile)
c.3428G>T (p.Ser1143Ile)
n.3246G>T
n.3454G>T
1g.197435157T>ACA344047010CRB1c.3294T>A (p.Ser1098Arg)
c.2175T>A (p.Ser725Arg)
c.1437T>A (p.Ser479Arg)
c.2958T>A (p.Ser986Arg)
c.3222T>A (p.Ser1074Arg)
c.2129-443T>A (n.2129-443T>A)
n.3295T>A
n.3503T>A
c.2712T>A (p.Ser904Arg)
c.1737T>A (p.Ser579Arg)
c.2451T>A (p.Ser817Arg)
c.3429T>A (p.Ser1143Arg)
n.3247T>A
n.3455T>A
1g.197435157T>CCA422809108CRB1c.3294T>C (p.Ser1098=)
c.2175T>C (p.Ser725=)
c.1437T>C (p.Ser479=)
c.2958T>C (p.Ser986=)
c.3222T>C (p.Ser1074=)
c.2129-443T>C (n.2129-443T>C)
n.3295T>C
n.3503T>C
c.2712T>C (p.Ser904=)
c.1737T>C (p.Ser579=)
c.2451T>C (p.Ser817=)
c.3429T>C (p.Ser1143=)
n.3247T>C
n.3455T>C
1g.197435157T>GCA344047011CRB1c.3294T>G (p.Ser1098Arg)
c.2175T>G (p.Ser725Arg)
c.1437T>G (p.Ser479Arg)
c.2958T>G (p.Ser986Arg)
c.3222T>G (p.Ser1074Arg)
c.2129-443T>G (n.2129-443T>G)
n.3295T>G
n.3503T>G
c.2712T>G (p.Ser904Arg)
c.1737T>G (p.Ser579Arg)
c.2451T>G (p.Ser817Arg)
c.3429T>G (p.Ser1143Arg)
n.3247T>G
n.3455T>G
1g.197435158A>CCA344047012CRB1c.3295A>C (p.Thr1099Pro)
c.2176A>C (p.Thr726Pro)
c.1438A>C (p.Thr480Pro)
c.2959A>C (p.Thr987Pro)
c.3223A>C (p.Thr1075Pro)
c.2129-442A>C (n.2129-442A>C)
n.3296A>C
n.3504A>C
c.2713A>C (p.Thr905Pro)
c.1738A>C (p.Thr580Pro)
c.2452A>C (p.Thr818Pro)
c.3430A>C (p.Thr1144Pro)
n.3248A>C
n.3456A>C
1g.197435158A>GCA344047013CRB1c.3295A>G (p.Thr1099Ala)
c.2176A>G (p.Thr726Ala)
c.1438A>G (p.Thr480Ala)
c.2959A>G (p.Thr987Ala)
c.3223A>G (p.Thr1075Ala)
c.2129-442A>G (n.2129-442A>G)
n.3296A>G
n.3504A>G
c.2713A>G (p.Thr905Ala)
c.1738A>G (p.Thr580Ala)
c.2452A>G (p.Thr818Ala)
c.3430A>G (p.Thr1144Ala)
n.3248A>G
n.3456A>G
1g.197435158A>TCA344047014CRB1c.3295A>T (p.Thr1099Ser)
c.2176A>T (p.Thr726Ser)
c.1438A>T (p.Thr480Ser)
c.2959A>T (p.Thr987Ser)
c.3223A>T (p.Thr1075Ser)
c.2129-442A>T (n.2129-442A>T)
n.3296A>T
n.3504A>T
c.2713A>T (p.Thr905Ser)
c.1738A>T (p.Thr580Ser)
c.2452A>T (p.Thr818Ser)
c.3430A>T (p.Thr1144Ser)
n.3248A>T
n.3456A>T
1g.197435159C>ACA344047015CRB1c.3296C>A (p.Thr1099Lys)
c.2177C>A (p.Thr726Lys)
c.1439C>A (p.Thr480Lys)
c.2960C>A (p.Thr987Lys)
c.3224C>A (p.Thr1075Lys)
c.2129-441C>A (n.2129-441C>A)
n.3297C>A
n.3505C>A
c.2714C>A (p.Thr905Lys)
c.1739C>A (p.Thr580Lys)
c.2453C>A (p.Thr818Lys)
c.3431C>A (p.Thr1144Lys)
n.3249C>A
n.3457C>A
 dbSNP COSMIC COSMIC
1g.197435159C=CA1218068817CRB1c.3296C= (p.Thr1099=)
c.2177C= (p.Thr726=)
c.1439C= (p.Thr480=)
c.2960C= (p.Thr987=)
c.3224C= (p.Thr1075=)
c.2129-441C= (n.2129-441C=)
n.3297C=
n.3505C=
c.2714C= (p.Thr905=)
c.1739C= (p.Thr580=)
c.2453C= (p.Thr818=)
c.3431C= (p.Thr1144=)
n.3249C=
n.3457C=
1g.197435159C>GCA344047016CRB1c.3296C>G (p.Thr1099Arg)
c.2177C>G (p.Thr726Arg)
c.1439C>G (p.Thr480Arg)
c.2960C>G (p.Thr987Arg)
c.3224C>G (p.Thr1075Arg)
c.2129-441C>G (n.2129-441C>G)
n.3297C>G
n.3505C>G
c.2714C>G (p.Thr905Arg)
c.1739C>G (p.Thr580Arg)
c.2453C>G (p.Thr818Arg)
c.3431C>G (p.Thr1144Arg)
n.3249C>G
n.3457C>G
1g.197435159C>TCA344047017CRB1c.3296C>T (p.Thr1099Ile)
c.2177C>T (p.Thr726Ile)
c.1439C>T (p.Thr480Ile)
c.2960C>T (p.Thr987Ile)
c.3224C>T (p.Thr1075Ile)
c.2129-441C>T (n.2129-441C>T)
n.3297C>T
n.3505C>T
c.2714C>T (p.Thr905Ile)
c.1739C>T (p.Thr580Ile)
c.2453C>T (p.Thr818Ile)
c.3431C>T (p.Thr1144Ile)
n.3249C>T
n.3457C>T
1g.197435160A>CCA422809112CRB1c.3297A>C (p.Thr1099=)
c.2178A>C (p.Thr726=)
c.1440A>C (p.Thr480=)
c.2961A>C (p.Thr987=)
c.3225A>C (p.Thr1075=)
c.2129-440A>C (n.2129-440A>C)
n.3298A>C
n.3506A>C
c.2715A>C (p.Thr905=)
c.1740A>C (p.Thr580=)
c.2454A>C (p.Thr818=)
c.3432A>C (p.Thr1144=)
n.3250A>C
n.3458A>C
1g.197435160A>GCA422809113CRB1c.3297A>G (p.Thr1099=)
c.2178A>G (p.Thr726=)
c.1440A>G (p.Thr480=)
c.2961A>G (p.Thr987=)
c.3225A>G (p.Thr1075=)
c.2129-440A>G (n.2129-440A>G)
n.3298A>G
n.3506A>G
c.2715A>G (p.Thr905=)
c.1740A>G (p.Thr580=)
c.2454A>G (p.Thr818=)
c.3432A>G (p.Thr1144=)
n.3250A>G
n.3458A>G
 ClinVar dbSNP gnomAD v4
1g.197435160A>TCA422809114CRB1c.3297A>T (p.Thr1099=)
c.2178A>T (p.Thr726=)
c.1440A>T (p.Thr480=)
c.2961A>T (p.Thr987=)
c.3225A>T (p.Thr1075=)
c.2129-440A>T (n.2129-440A>T)
n.3298A>T
n.3506A>T
c.2715A>T (p.Thr905=)
c.1740A>T (p.Thr580=)
c.2454A>T (p.Thr818=)
c.3432A>T (p.Thr1144=)
n.3250A>T
n.3458A>T
1g.197435161A=CA1218068818CRB1c.3298A= (p.Ile1100=)
c.2179A= (p.Ile727=)
c.1441A= (p.Ile481=)
c.2962A= (p.Ile988=)
c.3226A= (p.Ile1076=)
c.2129-439A= (n.2129-439A=)
n.3299A=
n.3507A=
c.2716A= (p.Ile906=)
c.1741A= (p.Ile581=)
c.2455A= (p.Ile819=)
c.3433A= (p.Ile1145=)
n.3251A=
n.3459A=
1g.197435161A>CCA344047018CRB1c.3298A>C (p.Ile1100Leu)
c.2179A>C (p.Ile727Leu)
c.1441A>C (p.Ile481Leu)
c.2962A>C (p.Ile988Leu)
c.3226A>C (p.Ile1076Leu)
c.2129-439A>C (n.2129-439A>C)
n.3299A>C
n.3507A>C
c.2716A>C (p.Ile906Leu)
c.1741A>C (p.Ile581Leu)
c.2455A>C (p.Ile819Leu)
c.3433A>C (p.Ile1145Leu)
n.3251A>C
n.3459A>C
1g.197435161A>GCA344047019CRB1c.3298A>G (p.Ile1100Val)
c.2179A>G (p.Ile727Val)
c.1441A>G (p.Ile481Val)
c.2962A>G (p.Ile988Val)
c.3226A>G (p.Ile1076Val)
c.2129-439A>G (n.2129-439A>G)
n.3299A>G
n.3507A>G
c.2716A>G (p.Ile906Val)
c.1741A>G (p.Ile581Val)
c.2455A>G (p.Ile819Val)
c.3433A>G (p.Ile1145Val)
n.3251A>G
n.3459A>G
 dbSNP gnomAD v2 gnomAD v4
1g.197435161A>TCA344047020CRB1c.3298A>T (p.Ile1100Leu)
c.2179A>T (p.Ile727Leu)
c.1441A>T (p.Ile481Leu)
c.2962A>T (p.Ile988Leu)
c.3226A>T (p.Ile1076Leu)
c.2129-439A>T (n.2129-439A>T)
n.3299A>T
n.3507A>T
c.2716A>T (p.Ile906Leu)
c.1741A>T (p.Ile581Leu)
c.2455A>T (p.Ile819Leu)
c.3433A>T (p.Ile1145Leu)
n.3251A>T
n.3459A>T
1g.197435162T>ACA344047021CRB1c.3299T>A (p.Ile1100Lys)
c.2180T>A (p.Ile727Lys)
c.1442T>A (p.Ile481Lys)
c.2963T>A (p.Ile988Lys)
c.3227T>A (p.Ile1076Lys)
c.2129-438T>A (n.2129-438T>A)
n.3300T>A
n.3508T>A
c.2717T>A (p.Ile906Lys)
c.1742T>A (p.Ile581Lys)
c.2456T>A (p.Ile819Lys)
c.3434T>A (p.Ile1145Lys)
n.3252T>A
n.3460T>A
1g.197435162T>CCA228035CRB1c.3299T>C (p.Ile1100Thr)
c.2180T>C (p.Ile727Thr)
c.1442T>C (p.Ile481Thr)
c.2963T>C (p.Ile988Thr)
c.3227T>C (p.Ile1076Thr)
c.2129-438T>C (n.2129-438T>C)
n.3300T>C
n.3508T>C
c.2717T>C (p.Ile906Thr)
c.1742T>C (p.Ile581Thr)
c.2456T>C (p.Ile819Thr)
c.3434T>C (p.Ile1145Thr)
n.3252T>C
n.3460T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197435162T>GCA117707CRB1c.3299T>G (p.Ile1100Arg)
c.2180T>G (p.Ile727Arg)
c.1442T>G (p.Ile481Arg)
c.2963T>G (p.Ile988Arg)
c.3227T>G (p.Ile1076Arg)
c.2129-438T>G (n.2129-438T>G)
n.3300T>G
n.3508T>G
c.2717T>G (p.Ile906Arg)
c.1742T>G (p.Ile581Arg)
c.2456T>G (p.Ile819Arg)
c.3434T>G (p.Ile1145Arg)
n.3252T>G
n.3460T>G
 ClinVar dbSNP
1g.197435162T=CA1140762963CRB1c.3299T= (p.Ile1100=)
c.2180T= (p.Ile727=)
c.1442T= (p.Ile481=)
c.2963T= (p.Ile988=)
c.3227T= (p.Ile1076=)
c.2129-438T= (n.2129-438T=)
n.3300T=
n.3508T=
c.2717T= (p.Ile906=)
c.1742T= (p.Ile581=)
c.2456T= (p.Ile819=)
c.3434T= (p.Ile1145=)
n.3252T=
n.3460T=
1g.197435163A=CA1218068819CRB1c.3300A= (p.Ile1100=)
c.2181A= (p.Ile727=)
c.1443A= (p.Ile481=)
c.2964A= (p.Ile988=)
c.3228A= (p.Ile1076=)
c.2129-437A= (n.2129-437A=)
n.3301A=
n.3509A=
c.2718A= (p.Ile906=)
c.1743A= (p.Ile581=)
c.2457A= (p.Ile819=)
c.3435A= (p.Ile1145=)
n.3253A=
n.3461A=
1g.197435163A>CCA422809118CRB1c.3300A>C (p.Ile1100=)
c.2181A>C (p.Ile727=)
c.1443A>C (p.Ile481=)
c.2964A>C (p.Ile988=)
c.3228A>C (p.Ile1076=)
c.2129-437A>C (n.2129-437A>C)
n.3301A>C
n.3509A>C
c.2718A>C (p.Ile906=)
c.1743A>C (p.Ile581=)
c.2457A>C (p.Ile819=)
c.3435A>C (p.Ile1145=)
n.3253A>C
n.3461A>C
 COSMIC
1g.197435163A>GCA344047022CRB1c.3300A>G (p.Ile1100Met)
c.2181A>G (p.Ile727Met)
c.1443A>G (p.Ile481Met)
c.2964A>G (p.Ile988Met)
c.3228A>G (p.Ile1076Met)
c.2129-437A>G (n.2129-437A>G)
n.3301A>G
n.3509A>G
c.2718A>G (p.Ile906Met)
c.1743A>G (p.Ile581Met)
c.2457A>G (p.Ile819Met)
c.3435A>G (p.Ile1145Met)
n.3253A>G
n.3461A>G
 dbSNP gnomAD v3 gnomAD v4
1g.197435163A>TCA422809120CRB1c.3300A>T (p.Ile1100=)
c.2181A>T (p.Ile727=)
c.1443A>T (p.Ile481=)
c.2964A>T (p.Ile988=)
c.3228A>T (p.Ile1076=)
c.2129-437A>T (n.2129-437A>T)
n.3301A>T
n.3509A>T
c.2718A>T (p.Ile906=)
c.1743A>T (p.Ile581=)
c.2457A>T (p.Ile819=)
c.3435A>T (p.Ile1145=)
n.3253A>T
n.3461A>T
1g.197435164G>ACA344047023CRB1c.3301G>A (p.Glu1101Lys)
c.2182G>A (p.Glu728Lys)
c.1444G>A (p.Glu482Lys)
c.2965G>A (p.Glu989Lys)
c.3229G>A (p.Glu1077Lys)
c.2129-436G>A (n.2129-436G>A)
n.3302G>A
n.3510G>A
c.2719G>A (p.Glu907Lys)
c.1744G>A (p.Glu582Lys)
c.2458G>A (p.Glu820Lys)
c.3436G>A (p.Glu1146Lys)
n.3254G>A
n.3462G>A
 dbSNP
1g.197435164G>CCA344047025CRB1c.3301G>C (p.Glu1101Gln)
c.2182G>C (p.Glu728Gln)
c.1444G>C (p.Glu482Gln)
c.2965G>C (p.Glu989Gln)
c.3229G>C (p.Glu1077Gln)
c.2129-436G>C (n.2129-436G>C)
n.3302G>C
n.3510G>C
c.2719G>C (p.Glu907Gln)
c.1744G>C (p.Glu582Gln)
c.2458G>C (p.Glu820Gln)
c.3436G>C (p.Glu1146Gln)
n.3254G>C
n.3462G>C
1g.197435164G=CA1218068820CRB1c.3301G= (p.Glu1101=)
c.2182G= (p.Glu728=)
c.1444G= (p.Glu482=)
c.2965G= (p.Glu989=)
c.3229G= (p.Glu1077=)
c.2129-436G= (n.2129-436G=)
n.3302G=
n.3510G=
c.2719G= (p.Glu907=)
c.1744G= (p.Glu582=)
c.2458G= (p.Glu820=)
c.3436G= (p.Glu1146=)
n.3254G=
n.3462G=
1g.197435164G>TCA344047024CRB1c.3301G>T (p.Glu1101Ter)
c.2182G>T (p.Glu728Ter)
c.1444G>T (p.Glu482Ter)
c.2965G>T (p.Glu989Ter)
c.3229G>T (p.Glu1077Ter)
c.2129-436G>T (n.2129-436G>T)
n.3302G>T
n.3510G>T
c.2719G>T (p.Glu907Ter)
c.1744G>T (p.Glu582Ter)
c.2458G>T (p.Glu820Ter)
c.3436G>T (p.Glu1146Ter)
n.3254G>T
n.3462G>T
 COSMIC
1g.197435165A>CCA344047026CRB1c.3302A>C (p.Glu1101Ala)
c.2183A>C (p.Glu728Ala)
c.1445A>C (p.Glu482Ala)
c.2966A>C (p.Glu989Ala)
c.3230A>C (p.Glu1077Ala)
c.2129-435A>C (n.2129-435A>C)
n.3303A>C
n.3511A>C
c.2720A>C (p.Glu907Ala)
c.1745A>C (p.Glu582Ala)
c.2459A>C (p.Glu820Ala)
c.3437A>C (p.Glu1146Ala)
n.3255A>C
n.3463A>C
1g.197435165A>GCA344047027CRB1c.3302A>G (p.Glu1101Gly)
c.2183A>G (p.Glu728Gly)
c.1445A>G (p.Glu482Gly)
c.2966A>G (p.Glu989Gly)
c.3230A>G (p.Glu1077Gly)
c.2129-435A>G (n.2129-435A>G)
n.3303A>G
n.3511A>G
c.2720A>G (p.Glu907Gly)
c.1745A>G (p.Glu582Gly)
c.2459A>G (p.Glu820Gly)
c.3437A>G (p.Glu1146Gly)
n.3255A>G
n.3463A>G
1g.197435165A>TCA344047028CRB1c.3302A>T (p.Glu1101Val)
c.2183A>T (p.Glu728Val)
c.1445A>T (p.Glu482Val)
c.2966A>T (p.Glu989Val)
c.3230A>T (p.Glu1077Val)
c.2129-435A>T (n.2129-435A>T)
n.3303A>T
n.3511A>T
c.2720A>T (p.Glu907Val)
c.1745A>T (p.Glu582Val)
c.2459A>T (p.Glu820Val)
c.3437A>T (p.Glu1146Val)
n.3255A>T
n.3463A>T
1g.197435166A>CCA344047029CRB1c.3303A>C (p.Glu1101Asp)
c.2184A>C (p.Glu728Asp)
c.1446A>C (p.Glu482Asp)
c.2967A>C (p.Glu989Asp)
c.3231A>C (p.Glu1077Asp)
c.2129-434A>C (n.2129-434A>C)
n.3304A>C
n.3512A>C
c.2721A>C (p.Glu907Asp)
c.1746A>C (p.Glu582Asp)
c.2460A>C (p.Glu820Asp)
c.3438A>C (p.Glu1146Asp)
n.3256A>C
n.3464A>C
1g.197435166A>GCA422809125CRB1c.3303A>G (p.Glu1101=)
c.2184A>G (p.Glu728=)
c.1446A>G (p.Glu482=)
c.2967A>G (p.Glu989=)
c.3231A>G (p.Glu1077=)
c.2129-434A>G (n.2129-434A>G)
n.3304A>G
n.3512A>G
c.2721A>G (p.Glu907=)
c.1746A>G (p.Glu582=)
c.2460A>G (p.Glu820=)
c.3438A>G (p.Glu1146=)
n.3256A>G
n.3464A>G
1g.197435166A>TCA344047030CRB1c.3303A>T (p.Glu1101Asp)
c.2184A>T (p.Glu728Asp)
c.1446A>T (p.Glu482Asp)
c.2967A>T (p.Glu989Asp)
c.3231A>T (p.Glu1077Asp)
c.2129-434A>T (n.2129-434A>T)
n.3304A>T
n.3512A>T
c.2721A>T (p.Glu907Asp)
c.1746A>T (p.Glu582Asp)
c.2460A>T (p.Glu820Asp)
c.3438A>T (p.Glu1146Asp)
n.3256A>T
n.3464A>T
 gnomAD v4
1g.197435167A=CA1218068821CRB1c.3304A= (p.Ile1102=)
c.2185A= (p.Ile729=)
c.1447A= (p.Ile483=)
c.2968A= (p.Ile990=)
c.3232A= (p.Ile1078=)
c.2129-433A= (n.2129-433A=)
n.3305A=
n.3513A=
c.2722A= (p.Ile908=)
c.1747A= (p.Ile583=)
c.2461A= (p.Ile821=)
c.3439A= (p.Ile1147=)
n.3257A=
n.3465A=
1g.197435167A>CCA344047031CRB1c.3304A>C (p.Ile1102Leu)
c.2185A>C (p.Ile729Leu)
c.1447A>C (p.Ile483Leu)
c.2968A>C (p.Ile990Leu)
c.3232A>C (p.Ile1078Leu)
c.2129-433A>C (n.2129-433A>C)
n.3305A>C
n.3513A>C
c.2722A>C (p.Ile908Leu)
c.1747A>C (p.Ile583Leu)
c.2461A>C (p.Ile821Leu)
c.3439A>C (p.Ile1147Leu)
n.3257A>C
n.3465A>C
1g.197435167A>GCA1312313CRB1c.3304A>G (p.Ile1102Val)
c.2185A>G (p.Ile729Val)
c.1447A>G (p.Ile483Val)
c.2968A>G (p.Ile990Val)
c.3232A>G (p.Ile1078Val)
c.2129-433A>G (n.2129-433A>G)
n.3305A>G
n.3513A>G
c.2722A>G (p.Ile908Val)
c.1747A>G (p.Ile583Val)
c.2461A>G (p.Ile821Val)
c.3439A>G (p.Ile1147Val)
n.3257A>G
n.3465A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435167A>TCA344047032CRB1c.3304A>T (p.Ile1102Phe)
c.2185A>T (p.Ile729Phe)
c.1447A>T (p.Ile483Phe)
c.2968A>T (p.Ile990Phe)
c.3232A>T (p.Ile1078Phe)
c.2129-433A>T (n.2129-433A>T)
n.3305A>T
n.3513A>T
c.2722A>T (p.Ile908Phe)
c.1747A>T (p.Ile583Phe)
c.2461A>T (p.Ile821Phe)
c.3439A>T (p.Ile1147Phe)
n.3257A>T
n.3465A>T
1g.197435168T>ACA344047033CRB1c.3305T>A (p.Ile1102Asn)
c.2186T>A (p.Ile729Asn)
c.1448T>A (p.Ile483Asn)
c.2969T>A (p.Ile990Asn)
c.3233T>A (p.Ile1078Asn)
c.2129-432T>A (n.2129-432T>A)
n.3306T>A
n.3514T>A
c.2723T>A (p.Ile908Asn)
c.1748T>A (p.Ile583Asn)
c.2462T>A (p.Ile821Asn)
c.3440T>A (p.Ile1147Asn)
n.3258T>A
n.3466T>A
1g.197435168T>CCA344047034CRB1c.3305T>C (p.Ile1102Thr)
c.2186T>C (p.Ile729Thr)
c.1448T>C (p.Ile483Thr)
c.2969T>C (p.Ile990Thr)
c.3233T>C (p.Ile1078Thr)
c.2129-432T>C (n.2129-432T>C)
n.3306T>C
n.3514T>C
c.2723T>C (p.Ile908Thr)
c.1748T>C (p.Ile583Thr)
c.2462T>C (p.Ile821Thr)
c.3440T>C (p.Ile1147Thr)
n.3258T>C
n.3466T>C
 dbSNP gnomAD v2 gnomAD v4
1g.197435168T>GCA344047035CRB1c.3305T>G (p.Ile1102Ser)
c.2186T>G (p.Ile729Ser)
c.1448T>G (p.Ile483Ser)
c.2969T>G (p.Ile990Ser)
c.3233T>G (p.Ile1078Ser)
c.2129-432T>G (n.2129-432T>G)
n.3306T>G
n.3514T>G
c.2723T>G (p.Ile908Ser)
c.1748T>G (p.Ile583Ser)
c.2462T>G (p.Ile821Ser)
c.3440T>G (p.Ile1147Ser)
n.3258T>G
n.3466T>G
1g.197435168T=CA1218068822CRB1c.3305T= (p.Ile1102=)
c.2186T= (p.Ile729=)
c.1448T= (p.Ile483=)
c.2969T= (p.Ile990=)
c.3233T= (p.Ile1078=)
c.2129-432T= (n.2129-432T=)
n.3306T=
n.3514T=
c.2723T= (p.Ile908=)
c.1748T= (p.Ile583=)
c.2462T= (p.Ile821=)
c.3440T= (p.Ile1147=)
n.3258T=
n.3466T=
1g.197435169C>ACA422809132CRB1c.3306C>A (p.Ile1102=)
c.2187C>A (p.Ile729=)
c.1449C>A (p.Ile483=)
c.2970C>A (p.Ile990=)
c.3234C>A (p.Ile1078=)
c.2129-431C>A (n.2129-431C>A)
n.3307C>A
n.3515C>A
c.2724C>A (p.Ile908=)
c.1749C>A (p.Ile583=)
c.2463C>A (p.Ile821=)
c.3441C>A (p.Ile1147=)
n.3259C>A
n.3467C>A
 ClinVar dbSNP gnomAD v4
1g.197435169C=CA1144017568CRB1c.3306C= (p.Ile1102=)
c.2187C= (p.Ile729=)
c.1449C= (p.Ile483=)
c.2970C= (p.Ile990=)
c.3234C= (p.Ile1078=)
c.2129-431C= (n.2129-431C=)
n.3307C=
n.3515C=
c.2724C= (p.Ile908=)
c.1749C= (p.Ile583=)
c.2463C= (p.Ile821=)
c.3441C= (p.Ile1147=)
n.3259C=
n.3467C=
1g.197435169C>GCA344047036CRB1c.3306C>G (p.Ile1102Met)
c.2187C>G (p.Ile729Met)
c.1449C>G (p.Ile483Met)
c.2970C>G (p.Ile990Met)
c.3234C>G (p.Ile1078Met)
c.2129-431C>G (n.2129-431C>G)
n.3307C>G
n.3515C>G
c.2724C>G (p.Ile908Met)
c.1749C>G (p.Ile583Met)
c.2463C>G (p.Ile821Met)
c.3441C>G (p.Ile1147Met)
n.3259C>G
n.3467C>G
1g.197435169C>TCA1312314CRB1c.3306C>T (p.Ile1102=)
c.2187C>T (p.Ile729=)
c.1449C>T (p.Ile483=)
c.2970C>T (p.Ile990=)
c.3234C>T (p.Ile1078=)
c.2129-431C>T (n.2129-431C>T)
n.3307C>T
n.3515C>T
c.2724C>T (p.Ile908=)
c.1749C>T (p.Ile583=)
c.2463C>T (p.Ile821=)
c.3441C>T (p.Ile1147=)
n.3259C>T
n.3467C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197435170G>ACA117711CRB1c.3307G>A (p.Gly1103Arg)
c.2188G>A (p.Gly730Arg)
c.1450G>A (p.Gly484Arg)
c.2971G>A (p.Gly991Arg)
c.3235G>A (p.Gly1079Arg)
c.2129-430G>A (n.2129-430G>A)
n.3308G>A
n.3516G>A
c.2725G>A (p.Gly909Arg)
c.1750G>A (p.Gly584Arg)
c.2464G>A (p.Gly822Arg)
c.3442G>A (p.Gly1148Arg)
n.3260G>A
n.3468G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197435170G>CCA344047037CRB1c.3307G>C (p.Gly1103Arg)
c.2188G>C (p.Gly730Arg)
c.1450G>C (p.Gly484Arg)
c.2971G>C (p.Gly991Arg)
c.3235G>C (p.Gly1079Arg)
c.2129-430G>C (n.2129-430G>C)
n.3308G>C
n.3516G>C
c.2725G>C (p.Gly909Arg)
c.1750G>C (p.Gly584Arg)
c.2464G>C (p.Gly822Arg)
c.3442G>C (p.Gly1148Arg)
n.3260G>C
n.3468G>C
 COSMIC
1g.197435170G=CA1140762964CRB1c.3307G= (p.Gly1103=)
c.2188G= (p.Gly730=)
c.1450G= (p.Gly484=)
c.2971G= (p.Gly991=)
c.3235G= (p.Gly1079=)
c.2129-430G= (n.2129-430G=)
n.3308G=
n.3516G=
c.2725G= (p.Gly909=)
c.1750G= (p.Gly584=)
c.2464G= (p.Gly822=)
c.3442G= (p.Gly1148=)
n.3260G=
n.3468G=
1g.197435170G>TCA344047038CRB1c.3307G>T (p.Gly1103Ter)
c.2188G>T (p.Gly730Ter)
c.1450G>T (p.Gly484Ter)
c.2971G>T (p.Gly991Ter)
c.3235G>T (p.Gly1079Ter)
c.2129-430G>T (n.2129-430G>T)
n.3308G>T
n.3516G>T
c.2725G>T (p.Gly909Ter)
c.1750G>T (p.Gly584Ter)
c.2464G>T (p.Gly822Ter)
c.3442G>T (p.Gly1148Ter)
n.3260G>T
n.3468G>T
1g.197435171G>ACA344047039CRB1c.3308G>A (p.Gly1103Glu)
c.2189G>A (p.Gly730Glu)
c.1451G>A (p.Gly484Glu)
c.2972G>A (p.Gly991Glu)
c.3236G>A (p.Gly1079Glu)
c.2129-429G>A (n.2129-429G>A)
n.3309G>A
n.3517G>A
c.2726G>A (p.Gly909Glu)
c.1751G>A (p.Gly584Glu)
c.2465G>A (p.Gly822Glu)
c.3443G>A (p.Gly1148Glu)
n.3261G>A
n.3469G>A
1g.197435171G>CCA344047040CRB1c.3308G>C (p.Gly1103Ala)
c.2189G>C (p.Gly730Ala)
c.1451G>C (p.Gly484Ala)
c.2972G>C (p.Gly991Ala)
c.3236G>C (p.Gly1079Ala)
c.2129-429G>C (n.2129-429G>C)
n.3309G>C
n.3517G>C
c.2726G>C (p.Gly909Ala)
c.1751G>C (p.Gly584Ala)
c.2465G>C (p.Gly822Ala)
c.3443G>C (p.Gly1148Ala)
n.3261G>C
n.3469G>C
1g.197435171G=CA1218068823CRB1c.3308G= (p.Gly1103=)
c.2189G= (p.Gly730=)
c.1451G= (p.Gly484=)
c.2972G= (p.Gly991=)
c.3236G= (p.Gly1079=)
c.2129-429G= (n.2129-429G=)
n.3309G=
n.3517G=
c.2726G= (p.Gly909=)
c.1751G= (p.Gly584=)
c.2465G= (p.Gly822=)
c.3443G= (p.Gly1148=)
n.3261G=
n.3469G=
1g.197435171G>TCA344047041CRB1c.3308G>T (p.Gly1103Val)
c.2189G>T (p.Gly730Val)
c.1451G>T (p.Gly484Val)
c.2972G>T (p.Gly991Val)
c.3236G>T (p.Gly1079Val)
c.2129-429G>T (n.2129-429G>T)
n.3309G>T
n.3517G>T
c.2726G>T (p.Gly909Val)
c.1751G>T (p.Gly584Val)
c.2465G>T (p.Gly822Val)
c.3443G>T (p.Gly1148Val)
n.3261G>T
n.3469G>T
 ClinVar dbSNP
1g.197435172A>CCA422809135CRB1c.3309A>C (p.Gly1103=)
c.2190A>C (p.Gly730=)
c.1452A>C (p.Gly484=)
c.2973A>C (p.Gly991=)
c.3237A>C (p.Gly1079=)
c.2129-428A>C (n.2129-428A>C)
n.3310A>C
n.3518A>C
c.2727A>C (p.Gly909=)
c.1752A>C (p.Gly584=)
c.2466A>C (p.Gly822=)
c.3444A>C (p.Gly1148=)
n.3262A>C
n.3470A>C
1g.197435172A>GCA422809137CRB1c.3309A>G (p.Gly1103=)
c.2190A>G (p.Gly730=)
c.1452A>G (p.Gly484=)
c.2973A>G (p.Gly991=)
c.3237A>G (p.Gly1079=)
c.2129-428A>G (n.2129-428A>G)
n.3310A>G
n.3518A>G
c.2727A>G (p.Gly909=)
c.1752A>G (p.Gly584=)
c.2466A>G (p.Gly822=)
c.3444A>G (p.Gly1148=)
n.3262A>G
n.3470A>G
 ClinVar
1g.197435172A>TCA422809136CRB1c.3309A>T (p.Gly1103=)
c.2190A>T (p.Gly730=)
c.1452A>T (p.Gly484=)
c.2973A>T (p.Gly991=)
c.3237A>T (p.Gly1079=)
c.2129-428A>T (n.2129-428A>T)
n.3310A>T
n.3518A>T
c.2727A>T (p.Gly909=)
c.1752A>T (p.Gly584=)
c.2466A>T (p.Gly822=)
c.3444A>T (p.Gly1148=)
n.3262A>T
n.3470A>T
1g.197435173G>ACA35907397CRB1c.3310G>A (p.Gly1104Ser)
c.2191G>A (p.Gly731Ser)
c.1453G>A (p.Gly485Ser)
c.2974G>A (p.Gly992Ser)
c.3238G>A (p.Gly1080Ser)
c.2129-427G>A (n.2129-427G>A)
n.3311G>A
n.3519G>A
c.2728G>A (p.Gly910Ser)
c.1753G>A (p.Gly585Ser)
c.2467G>A (p.Gly823Ser)
c.3445G>A (p.Gly1149Ser)
n.3263G>A
n.3471G>A
 dbSNP gnomAD v3 gnomAD v4
1g.197435173G>CCA344047042CRB1c.3310G>C (p.Gly1104Arg)
c.2191G>C (p.Gly731Arg)
c.1453G>C (p.Gly485Arg)
c.2974G>C (p.Gly992Arg)
c.3238G>C (p.Gly1080Arg)
c.2129-427G>C (n.2129-427G>C)
n.3311G>C
n.3519G>C
c.2728G>C (p.Gly910Arg)
c.1753G>C (p.Gly585Arg)
c.2467G>C (p.Gly823Arg)
c.3445G>C (p.Gly1149Arg)
n.3263G>C
n.3471G>C
1g.197435173G=CA1218068824CRB1c.3310G= (p.Gly1104=)
c.2191G= (p.Gly731=)
c.1453G= (p.Gly485=)
c.2974G= (p.Gly992=)
c.3238G= (p.Gly1080=)
c.2129-427G= (n.2129-427G=)
n.3311G=
n.3519G=
c.2728G= (p.Gly910=)
c.1753G= (p.Gly585=)
c.2467G= (p.Gly823=)
c.3445G= (p.Gly1149=)
n.3263G=
n.3471G=
1g.197435173G>TCA344047043CRB1c.3310G>T (p.Gly1104Cys)
c.2191G>T (p.Gly731Cys)
c.1453G>T (p.Gly485Cys)
c.2974G>T (p.Gly992Cys)
c.3238G>T (p.Gly1080Cys)
c.2129-427G>T (n.2129-427G>T)
n.3311G>T
n.3519G>T
c.2728G>T (p.Gly910Cys)
c.1753G>T (p.Gly585Cys)
c.2467G>T (p.Gly823Cys)
c.3445G>T (p.Gly1149Cys)
n.3263G>T
n.3471G>T
1g.197435174G>ACA344047044CRB1c.3311G>A (p.Gly1104Asp)
c.2192G>A (p.Gly731Asp)
c.1454G>A (p.Gly485Asp)
c.2975G>A (p.Gly992Asp)
c.3239G>A (p.Gly1080Asp)
c.2129-426G>A (n.2129-426G>A)
n.3312G>A
n.3520G>A
c.2729G>A (p.Gly910Asp)
c.1754G>A (p.Gly585Asp)
c.2468G>A (p.Gly823Asp)
c.3446G>A (p.Gly1149Asp)
n.3264G>A
n.3472G>A
 dbSNP gnomAD v4
1g.197435174G>CCA344047045CRB1c.3311G>C (p.Gly1104Ala)
c.2192G>C (p.Gly731Ala)
c.1454G>C (p.Gly485Ala)
c.2975G>C (p.Gly992Ala)
c.3239G>C (p.Gly1080Ala)
c.2129-426G>C (n.2129-426G>C)
n.3312G>C
n.3520G>C
c.2729G>C (p.Gly910Ala)
c.1754G>C (p.Gly585Ala)
c.2468G>C (p.Gly823Ala)
c.3446G>C (p.Gly1149Ala)
n.3264G>C
n.3472G>C
1g.197435174G=CA1218068825CRB1c.3311G= (p.Gly1104=)
c.2192G= (p.Gly731=)
c.1454G= (p.Gly485=)
c.2975G= (p.Gly992=)
c.3239G= (p.Gly1080=)
c.2129-426G= (n.2129-426G=)
n.3312G=
n.3520G=
c.2729G= (p.Gly910=)
c.1754G= (p.Gly585=)
c.2468G= (p.Gly823=)
c.3446G= (p.Gly1149=)
n.3264G=
n.3472G=
1g.197435174G>TCA344047046CRB1c.3311G>T (p.Gly1104Val)
c.2192G>T (p.Gly731Val)
c.1454G>T (p.Gly485Val)
c.2975G>T (p.Gly992Val)
c.3239G>T (p.Gly1080Val)
c.2129-426G>T (n.2129-426G>T)
n.3312G>T
n.3520G>T
c.2729G>T (p.Gly910Val)
c.1754G>T (p.Gly585Val)
c.2468G>T (p.Gly823Val)
c.3446G>T (p.Gly1149Val)
n.3264G>T
n.3472G>T
1g.197435175C>ACA422809143CRB1c.3312C>A (p.Gly1104=)
c.2193C>A (p.Gly731=)
c.1455C>A (p.Gly485=)
c.2976C>A (p.Gly992=)
c.3240C>A (p.Gly1080=)
c.2129-425C>A (n.2129-425C>A)
n.3313C>A
n.3521C>A
c.2730C>A (p.Gly910=)
c.1755C>A (p.Gly585=)
c.2469C>A (p.Gly823=)
c.3447C>A (p.Gly1149=)
n.3265C>A
n.3473C>A
1g.197435175C>GCA422809144CRB1c.3312C>G (p.Gly1104=)
c.2193C>G (p.Gly731=)
c.1455C>G (p.Gly485=)
c.2976C>G (p.Gly992=)
c.3240C>G (p.Gly1080=)
c.2129-425C>G (n.2129-425C>G)
n.3313C>G
n.3521C>G
c.2730C>G (p.Gly910=)
c.1755C>G (p.Gly585=)
c.2469C>G (p.Gly823=)
c.3447C>G (p.Gly1149=)
n.3265C>G
n.3473C>G
 ClinVar
1g.197435175C>TCA422809145CRB1c.3312C>T (p.Gly1104=)
c.2193C>T (p.Gly731=)
c.1455C>T (p.Gly485=)
c.2976C>T (p.Gly992=)
c.3240C>T (p.Gly1080=)
c.2129-425C>T (n.2129-425C>T)
n.3313C>T
n.3521C>T
c.2730C>T (p.Gly910=)
c.1755C>T (p.Gly585=)
c.2469C>T (p.Gly823=)
c.3447C>T (p.Gly1149=)
n.3265C>T
n.3473C>T
 ClinVar
1g.197435176A=CA1218068826CRB1c.3313A= (p.Ile1105=)
c.2194A= (p.Ile732=)
c.1456A= (p.Ile486=)
c.2977A= (p.Ile993=)
c.3241A= (p.Ile1081=)
c.2129-424A= (n.2129-424A=)
n.3314A=
n.3522A=
c.2731A= (p.Ile911=)
c.1756A= (p.Ile586=)
c.2470A= (p.Ile824=)
c.3448A= (p.Ile1150=)
n.3266A=
n.3474A=
1g.197435176A>CCA344047048CRB1c.3313A>C (p.Ile1105Leu)
c.2194A>C (p.Ile732Leu)
c.1456A>C (p.Ile486Leu)
c.2977A>C (p.Ile993Leu)
c.3241A>C (p.Ile1081Leu)
c.2129-424A>C (n.2129-424A>C)
n.3314A>C
n.3522A>C
c.2731A>C (p.Ile911Leu)
c.1756A>C (p.Ile586Leu)
c.2470A>C (p.Ile824Leu)
c.3448A>C (p.Ile1150Leu)
n.3266A>C
n.3474A>C
1g.197435176A>GCA1312315CRB1c.3313A>G (p.Ile1105Val)
c.2194A>G (p.Ile732Val)
c.1456A>G (p.Ile486Val)
c.2977A>G (p.Ile993Val)
c.3241A>G (p.Ile1081Val)
c.2129-424A>G (n.2129-424A>G)
n.3314A>G
n.3522A>G
c.2731A>G (p.Ile911Val)
c.1756A>G (p.Ile586Val)
c.2470A>G (p.Ile824Val)
c.3448A>G (p.Ile1150Val)
n.3266A>G
n.3474A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435176A>TCA344047047CRB1c.3313A>T (p.Ile1105Phe)
c.2194A>T (p.Ile732Phe)
c.1456A>T (p.Ile486Phe)
c.2977A>T (p.Ile993Phe)
c.3241A>T (p.Ile1081Phe)
c.2129-424A>T (n.2129-424A>T)
n.3314A>T
n.3522A>T
c.2731A>T (p.Ile911Phe)
c.1756A>T (p.Ile586Phe)
c.2470A>T (p.Ile824Phe)
c.3448A>T (p.Ile1150Phe)
n.3266A>T
n.3474A>T
1g.197435177T>ACA344047049CRB1c.3314T>A (p.Ile1105Asn)
c.2195T>A (p.Ile732Asn)
c.1457T>A (p.Ile486Asn)
c.2978T>A (p.Ile993Asn)
c.3242T>A (p.Ile1081Asn)
c.2129-423T>A (n.2129-423T>A)
n.3315T>A
n.3523T>A
c.2732T>A (p.Ile911Asn)
c.1757T>A (p.Ile586Asn)
c.2471T>A (p.Ile824Asn)
c.3449T>A (p.Ile1150Asn)
n.3267T>A
n.3475T>A
1g.197435177T>CCA344047050CRB1c.3314T>C (p.Ile1105Thr)
c.2195T>C (p.Ile732Thr)
c.1457T>C (p.Ile486Thr)
c.2978T>C (p.Ile993Thr)
c.3242T>C (p.Ile1081Thr)
c.2129-423T>C (n.2129-423T>C)
n.3315T>C
n.3523T>C
c.2732T>C (p.Ile911Thr)
c.1757T>C (p.Ile586Thr)
c.2471T>C (p.Ile824Thr)
c.3449T>C (p.Ile1150Thr)
n.3267T>C
n.3475T>C
1g.197435177T>GCA344047051CRB1c.3314T>G (p.Ile1105Ser)
c.2195T>G (p.Ile732Ser)
c.1457T>G (p.Ile486Ser)
c.2978T>G (p.Ile993Ser)
c.3242T>G (p.Ile1081Ser)
c.2129-423T>G (n.2129-423T>G)
n.3315T>G
n.3523T>G
c.2732T>G (p.Ile911Ser)
c.1757T>G (p.Ile586Ser)
c.2471T>G (p.Ile824Ser)
c.3449T>G (p.Ile1150Ser)
n.3267T>G
n.3475T>G
1g.197435179_197435193dupCA1218068827CRB1c.3316_3330dup (p.Phe1110_Glu1111insTyrLeuSerTyrPhe)
c.2197_2211dup (p.Phe737_Glu738insTyrLeuSerTyrPhe)
c.1459_1473dup (p.Phe491_Glu492insTyrLeuSerTyrPhe)
c.2980_2994dup (p.Phe998_Glu999insTyrLeuSerTyrPhe)
c.3244_3258dup (p.Phe1086_Glu1087insTyrLeuSerTyrPhe)
c.2129-421_2129-407dup (n.2129-421_2129-407dup)
n.3317_3331dup
n.3525_3539dup
c.2734_2748dup (p.Phe916_Glu917insTyrLeuSerTyrPhe)
c.1759_1773dup (p.Phe591_Glu592insTyrLeuSerTyrPhe)
c.2473_2487dup (p.Phe829_Glu830insTyrLeuSerTyrPhe)
c.3451_3465dup (p.Phe1155_Glu1156insTyrLeuSerTyrPhe)
n.3269_3283dup
n.3477_3491dup
 dbSNP
1g.197435178T>ACA422809152CRB1c.3315T>A (p.Ile1105=)
c.2196T>A (p.Ile732=)
c.1458T>A (p.Ile486=)
c.2979T>A (p.Ile993=)
c.3243T>A (p.Ile1081=)
c.2129-422T>A (n.2129-422T>A)
n.3316T>A
n.3524T>A
c.2733T>A (p.Ile911=)
c.1758T>A (p.Ile586=)
c.2472T>A (p.Ile824=)
c.3450T>A (p.Ile1150=)
n.3268T>A
n.3476T>A
1g.197435178T>CCA422809153CRB1c.3315T>C (p.Ile1105=)
c.2196T>C (p.Ile732=)
c.1458T>C (p.Ile486=)
c.2979T>C (p.Ile993=)
c.3243T>C (p.Ile1081=)
c.2129-422T>C (n.2129-422T>C)
n.3316T>C
n.3524T>C
c.2733T>C (p.Ile911=)
c.1758T>C (p.Ile586=)
c.2472T>C (p.Ile824=)
c.3450T>C (p.Ile1150=)
n.3268T>C
n.3476T>C
1g.197435178T>GCA344047052CRB1c.3315T>G (p.Ile1105Met)
c.2196T>G (p.Ile732Met)
c.1458T>G (p.Ile486Met)
c.2979T>G (p.Ile993Met)
c.3243T>G (p.Ile1081Met)
c.2129-422T>G (n.2129-422T>G)
n.3316T>G
n.3524T>G
c.2733T>G (p.Ile911Met)
c.1758T>G (p.Ile586Met)
c.2472T>G (p.Ile824Met)
c.3450T>G (p.Ile1150Met)
n.3268T>G
n.3476T>G
1g.197435179T>ACA344047055CRB1c.3316T>A (p.Tyr1106Asn)
c.2197T>A (p.Tyr733Asn)
c.1459T>A (p.Tyr487Asn)
c.2980T>A (p.Tyr994Asn)
c.3244T>A (p.Tyr1082Asn)
c.2129-421T>A (n.2129-421T>A)
n.3317T>A
n.3525T>A
c.2734T>A (p.Tyr912Asn)
c.1759T>A (p.Tyr587Asn)
c.2473T>A (p.Tyr825Asn)
c.3451T>A (p.Tyr1151Asn)
n.3269T>A
n.3477T>A
1g.197435179T>CCA344047054CRB1c.3316T>C (p.Tyr1106His)
c.2197T>C (p.Tyr733His)
c.1459T>C (p.Tyr487His)
c.2980T>C (p.Tyr994His)
c.3244T>C (p.Tyr1082His)
c.2129-421T>C (n.2129-421T>C)
n.3317T>C
n.3525T>C
c.2734T>C (p.Tyr912His)
c.1759T>C (p.Tyr587His)
c.2473T>C (p.Tyr825His)
c.3451T>C (p.Tyr1151His)
n.3269T>C
n.3477T>C
1g.197435179T>GCA344047053CRB1c.3316T>G (p.Tyr1106Asp)
c.2197T>G (p.Tyr733Asp)
c.1459T>G (p.Tyr487Asp)
c.2980T>G (p.Tyr994Asp)
c.3244T>G (p.Tyr1082Asp)
c.2129-421T>G (n.2129-421T>G)
n.3317T>G
n.3525T>G
c.2734T>G (p.Tyr912Asp)
c.1759T>G (p.Tyr587Asp)
c.2473T>G (p.Tyr825Asp)
c.3451T>G (p.Tyr1151Asp)
n.3269T>G
n.3477T>G
1g.197435180A=CA1141480371CRB1c.3317A= (p.Tyr1106=)
c.2198A= (p.Tyr733=)
c.1460A= (p.Tyr487=)
c.2981A= (p.Tyr994=)
c.3245A= (p.Tyr1082=)
c.2129-420A= (n.2129-420A=)
n.3318A=
n.3526A=
c.2735A= (p.Tyr912=)
c.1760A= (p.Tyr587=)
c.2474A= (p.Tyr825=)
c.3452A= (p.Tyr1151=)
n.3270A=
n.3478A=
1g.197435180A>CCA344047056CRB1c.3317A>C (p.Tyr1106Ser)
c.2198A>C (p.Tyr733Ser)
c.1460A>C (p.Tyr487Ser)
c.2981A>C (p.Tyr994Ser)
c.3245A>C (p.Tyr1082Ser)
c.2129-420A>C (n.2129-420A>C)
n.3318A>C
n.3526A>C
c.2735A>C (p.Tyr912Ser)
c.1760A>C (p.Tyr587Ser)
c.2474A>C (p.Tyr825Ser)
c.3452A>C (p.Tyr1151Ser)
n.3270A>C
n.3478A>C
1g.197435180A>GCA248281CRB1c.3317A>G (p.Tyr1106Cys)
c.2198A>G (p.Tyr733Cys)
c.1460A>G (p.Tyr487Cys)
c.2981A>G (p.Tyr994Cys)
c.3245A>G (p.Tyr1082Cys)
c.2129-420A>G (n.2129-420A>G)
n.3318A>G
n.3526A>G
c.2735A>G (p.Tyr912Cys)
c.1760A>G (p.Tyr587Cys)
c.2474A>G (p.Tyr825Cys)
c.3452A>G (p.Tyr1151Cys)
n.3270A>G
n.3478A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435180A>TCA1312316CRB1c.3317A>T (p.Tyr1106Phe)
c.2198A>T (p.Tyr733Phe)
c.1460A>T (p.Tyr487Phe)
c.2981A>T (p.Tyr994Phe)
c.3245A>T (p.Tyr1082Phe)
c.2129-420A>T (n.2129-420A>T)
n.3318A>T
n.3526A>T
c.2735A>T (p.Tyr912Phe)
c.1760A>T (p.Tyr587Phe)
c.2474A>T (p.Tyr825Phe)
c.3452A>T (p.Tyr1151Phe)
n.3270A>T
n.3478A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435181T>ACA344047057CRB1c.3318T>A (p.Tyr1106Ter)
c.2199T>A (p.Tyr733Ter)
c.1461T>A (p.Tyr487Ter)
c.2982T>A (p.Tyr994Ter)
c.3246T>A (p.Tyr1082Ter)
c.2129-419T>A (n.2129-419T>A)
n.3319T>A
n.3527T>A
c.2736T>A (p.Tyr912Ter)
c.1761T>A (p.Tyr587Ter)
c.2475T>A (p.Tyr825Ter)
c.3453T>A (p.Tyr1151Ter)
n.3271T>A
n.3479T>A
1g.197435181T>CCA1312317CRB1c.3318T>C (p.Tyr1106=)
c.2199T>C (p.Tyr733=)
c.1461T>C (p.Tyr487=)
c.2982T>C (p.Tyr994=)
c.3246T>C (p.Tyr1082=)
c.2129-419T>C (n.2129-419T>C)
n.3319T>C
n.3527T>C
c.2736T>C (p.Tyr912=)
c.1761T>C (p.Tyr587=)
c.2475T>C (p.Tyr825=)
c.3453T>C (p.Tyr1151=)
n.3271T>C
n.3479T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435181T>GCA344047058CRB1c.3318T>G (p.Tyr1106Ter)
c.2199T>G (p.Tyr733Ter)
c.1461T>G (p.Tyr487Ter)
c.2982T>G (p.Tyr994Ter)
c.3246T>G (p.Tyr1082Ter)
c.2129-419T>G (n.2129-419T>G)
n.3319T>G
n.3527T>G
c.2736T>G (p.Tyr912Ter)
c.1761T>G (p.Tyr587Ter)
c.2475T>G (p.Tyr825Ter)
c.3453T>G (p.Tyr1151Ter)
n.3271T>G
n.3479T>G
 ClinVar
1g.197435181T=CA1142820985CRB1c.3318T= (p.Tyr1106=)
c.2199T= (p.Tyr733=)
c.1461T= (p.Tyr487=)
c.2982T= (p.Tyr994=)
c.3246T= (p.Tyr1082=)
c.2129-419T= (n.2129-419T=)
n.3319T=
n.3527T=
c.2736T= (p.Tyr912=)
c.1761T= (p.Tyr587=)
c.2475T= (p.Tyr825=)
c.3453T= (p.Tyr1151=)
n.3271T=
n.3479T=
1g.197435184_197435187delCA2649670644CRB1c.3321_3324del (p.Ser1108ThrfsTer?)
c.2202_2205del (p.Ser735ThrfsTer?)
c.1464_1467del (p.Ser489ThrfsTer?)
c.2985_2988del (p.Ser996ThrfsTer?)
c.3249_3252del (p.Ser1084ThrfsTer?)
c.2129-416_2129-413del (n.2129-416_2129-413del)
n.3322_3325del
n.3530_3533del
c.2739_2742del (p.Ser914ThrfsTer?)
c.1764_1767del (p.Ser589ThrfsTer?)
c.2478_2481del (p.Ser827ThrfsTer?)
c.3456_3459del (p.Ser1153ThrfsTer?)
n.3274_3277del
n.3482_3485del
 gnomAD v4
1g.197435182C>ACA344047059CRB1c.3319C>A (p.Leu1107Ile)
c.2200C>A (p.Leu734Ile)
c.1462C>A (p.Leu488Ile)
c.2983C>A (p.Leu995Ile)
c.3247C>A (p.Leu1083Ile)
c.2129-418C>A (n.2129-418C>A)
n.3320C>A
n.3528C>A
c.2737C>A (p.Leu913Ile)
c.1762C>A (p.Leu588Ile)
c.2476C>A (p.Leu826Ile)
c.3454C>A (p.Leu1152Ile)
n.3272C>A
n.3480C>A
1g.197435182C>GCA344047061CRB1c.3319C>G (p.Leu1107Val)
c.2200C>G (p.Leu734Val)
c.1462C>G (p.Leu488Val)
c.2983C>G (p.Leu995Val)
c.3247C>G (p.Leu1083Val)
c.2129-418C>G (n.2129-418C>G)
n.3320C>G
n.3528C>G
c.2737C>G (p.Leu913Val)
c.1762C>G (p.Leu588Val)
c.2476C>G (p.Leu826Val)
c.3454C>G (p.Leu1152Val)
n.3272C>G
n.3480C>G
1g.197435182C>TCA344047060CRB1c.3319C>T (p.Leu1107Phe)
c.2200C>T (p.Leu734Phe)
c.1462C>T (p.Leu488Phe)
c.2983C>T (p.Leu995Phe)
c.3247C>T (p.Leu1083Phe)
c.2129-418C>T (n.2129-418C>T)
n.3320C>T
n.3528C>T
c.2737C>T (p.Leu913Phe)
c.1762C>T (p.Leu588Phe)
c.2476C>T (p.Leu826Phe)
c.3454C>T (p.Leu1152Phe)
n.3272C>T
n.3480C>T
 gnomAD v4 COSMIC COSMIC
1g.197435183T>ACA344047062CRB1c.3320T>A (p.Leu1107His)
c.2201T>A (p.Leu734His)
c.1463T>A (p.Leu488His)
c.2984T>A (p.Leu995His)
c.3248T>A (p.Leu1083His)
c.2129-417T>A (n.2129-417T>A)
n.3321T>A
n.3529T>A
c.2738T>A (p.Leu913His)
c.1763T>A (p.Leu588His)
c.2477T>A (p.Leu826His)
c.3455T>A (p.Leu1152His)
n.3273T>A
n.3481T>A
1g.197435183T>CCA228036CRB1c.3320T>C (p.Leu1107Pro)
c.2201T>C (p.Leu734Pro)
c.1463T>C (p.Leu488Pro)
c.2984T>C (p.Leu995Pro)
c.3248T>C (p.Leu1083Pro)
c.2129-417T>C (n.2129-417T>C)
n.3321T>C
n.3529T>C
c.2738T>C (p.Leu913Pro)
c.1763T>C (p.Leu588Pro)
c.2477T>C (p.Leu826Pro)
c.3455T>C (p.Leu1152Pro)
n.3273T>C
n.3481T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197435183T>GCA228037CRB1c.3320T>G (p.Leu1107Arg)
c.2201T>G (p.Leu734Arg)
c.1463T>G (p.Leu488Arg)
c.2984T>G (p.Leu995Arg)
c.3248T>G (p.Leu1083Arg)
c.2129-417T>G (n.2129-417T>G)
n.3321T>G
n.3529T>G
c.2738T>G (p.Leu913Arg)
c.1763T>G (p.Leu588Arg)
c.2477T>G (p.Leu826Arg)
c.3455T>G (p.Leu1152Arg)
n.3273T>G
n.3481T>G
 ClinVar dbSNP
1g.197435183T=CA1140762965CRB1c.3320T= (p.Leu1107=)
c.2201T= (p.Leu734=)
c.1463T= (p.Leu488=)
c.2984T= (p.Leu995=)
c.3248T= (p.Leu1083=)
c.2129-417T= (n.2129-417T=)
n.3321T=
n.3529T=
c.2738T= (p.Leu913=)
c.1763T= (p.Leu588=)
c.2477T= (p.Leu826=)
c.3455T= (p.Leu1152=)
n.3273T=
n.3481T=
1g.197435184C>ACA422809163CRB1c.3321C>A (p.Leu1107=)
c.2202C>A (p.Leu734=)
c.1464C>A (p.Leu488=)
c.2985C>A (p.Leu995=)
c.3249C>A (p.Leu1083=)
c.2129-416C>A (n.2129-416C>A)
n.3322C>A
n.3530C>A
c.2739C>A (p.Leu913=)
c.1764C>A (p.Leu588=)
c.2478C>A (p.Leu826=)
c.3456C>A (p.Leu1152=)
n.3274C>A
n.3482C>A
1g.197435184C>GCA422809164CRB1c.3321C>G (p.Leu1107=)
c.2202C>G (p.Leu734=)
c.1464C>G (p.Leu488=)
c.2985C>G (p.Leu995=)
c.3249C>G (p.Leu1083=)
c.2129-416C>G (n.2129-416C>G)
n.3322C>G
n.3530C>G
c.2739C>G (p.Leu913=)
c.1764C>G (p.Leu588=)
c.2478C>G (p.Leu826=)
c.3456C>G (p.Leu1152=)
n.3274C>G
n.3482C>G
 gnomAD v4
1g.197435184C>TCA422809165CRB1c.3321C>T (p.Leu1107=)
c.2202C>T (p.Leu734=)
c.1464C>T (p.Leu488=)
c.2985C>T (p.Leu995=)
c.3249C>T (p.Leu1083=)
c.2129-416C>T (n.2129-416C>T)
n.3322C>T
n.3530C>T
c.2739C>T (p.Leu913=)
c.1764C>T (p.Leu588=)
c.2478C>T (p.Leu826=)
c.3456C>T (p.Leu1152=)
n.3274C>T
n.3482C>T
1g.197435185T>ACA344047065CRB1c.3322T>A (p.Ser1108Thr)
c.2203T>A (p.Ser735Thr)
c.1465T>A (p.Ser489Thr)
c.2986T>A (p.Ser996Thr)
c.3250T>A (p.Ser1084Thr)
c.2129-415T>A (n.2129-415T>A)
n.3323T>A
n.3531T>A
c.2740T>A (p.Ser914Thr)
c.1765T>A (p.Ser589Thr)
c.2479T>A (p.Ser827Thr)
c.3457T>A (p.Ser1153Thr)
n.3275T>A
n.3483T>A
1g.197435185T>CCA344047068CRB1c.3322T>C (p.Ser1108Pro)
c.2203T>C (p.Ser735Pro)
c.1465T>C (p.Ser489Pro)
c.2986T>C (p.Ser996Pro)
c.3250T>C (p.Ser1084Pro)
c.2129-415T>C (n.2129-415T>C)
n.3323T>C
n.3531T>C
c.2740T>C (p.Ser914Pro)
c.1765T>C (p.Ser589Pro)
c.2479T>C (p.Ser827Pro)
c.3457T>C (p.Ser1153Pro)
n.3275T>C
n.3483T>C
1g.197435185T>GCA344047067CRB1c.3322T>G (p.Ser1108Ala)
c.2203T>G (p.Ser735Ala)
c.1465T>G (p.Ser489Ala)
c.2986T>G (p.Ser996Ala)
c.3250T>G (p.Ser1084Ala)
c.2129-415T>G (n.2129-415T>G)
n.3323T>G
n.3531T>G
c.2740T>G (p.Ser914Ala)
c.1765T>G (p.Ser589Ala)
c.2479T>G (p.Ser827Ala)
c.3457T>G (p.Ser1153Ala)
n.3275T>G
n.3483T>G
1g.197435186C>ACA344047071CRB1c.3323C>A (p.Ser1108Tyr)
c.2204C>A (p.Ser735Tyr)
c.1466C>A (p.Ser489Tyr)
c.2987C>A (p.Ser996Tyr)
c.3251C>A (p.Ser1084Tyr)
c.2129-414C>A (n.2129-414C>A)
n.3324C>A
n.3532C>A
c.2741C>A (p.Ser914Tyr)
c.1766C>A (p.Ser589Tyr)
c.2480C>A (p.Ser827Tyr)
c.3458C>A (p.Ser1153Tyr)
n.3276C>A
n.3484C>A
1g.197435186C>GCA344047074CRB1c.3323C>G (p.Ser1108Cys)
c.2204C>G (p.Ser735Cys)
c.1466C>G (p.Ser489Cys)
c.2987C>G (p.Ser996Cys)
c.3251C>G (p.Ser1084Cys)
c.2129-414C>G (n.2129-414C>G)
n.3324C>G
n.3532C>G
c.2741C>G (p.Ser914Cys)
c.1766C>G (p.Ser589Cys)
c.2480C>G (p.Ser827Cys)
c.3458C>G (p.Ser1153Cys)
n.3276C>G
n.3484C>G
1g.197435186C>TCA344047073CRB1c.3323C>T (p.Ser1108Phe)
c.2204C>T (p.Ser735Phe)
c.1466C>T (p.Ser489Phe)
c.2987C>T (p.Ser996Phe)
c.3251C>T (p.Ser1084Phe)
c.2129-414C>T (n.2129-414C>T)
n.3324C>T
n.3532C>T
c.2741C>T (p.Ser914Phe)
c.1766C>T (p.Ser589Phe)
c.2480C>T (p.Ser827Phe)
c.3458C>T (p.Ser1153Phe)
n.3276C>T
n.3484C>T
 COSMIC COSMIC
1g.197435187T>ACA422809175CRB1c.3324T>A (p.Ser1108=)
c.2205T>A (p.Ser735=)
c.1467T>A (p.Ser489=)
c.2988T>A (p.Ser996=)
c.3252T>A (p.Ser1084=)
c.2129-413T>A (n.2129-413T>A)
n.3325T>A
n.3533T>A
c.2742T>A (p.Ser914=)
c.1767T>A (p.Ser589=)
c.2481T>A (p.Ser827=)
c.3459T>A (p.Ser1153=)
n.3277T>A
n.3485T>A
1g.197435187T>CCA422809174CRB1c.3324T>C (p.Ser1108=)
c.2205T>C (p.Ser735=)
c.1467T>C (p.Ser489=)
c.2988T>C (p.Ser996=)
c.3252T>C (p.Ser1084=)
c.2129-413T>C (n.2129-413T>C)
n.3325T>C
n.3533T>C
c.2742T>C (p.Ser914=)
c.1767T>C (p.Ser589=)
c.2481T>C (p.Ser827=)
c.3459T>C (p.Ser1153=)
n.3277T>C
n.3485T>C
 dbSNP
1g.197435187T>GCA422809173CRB1c.3324T>G (p.Ser1108=)
c.2205T>G (p.Ser735=)
c.1467T>G (p.Ser489=)
c.2988T>G (p.Ser996=)
c.3252T>G (p.Ser1084=)
c.2129-413T>G (n.2129-413T>G)
n.3325T>G
n.3533T>G
c.2742T>G (p.Ser914=)
c.1767T>G (p.Ser589=)
c.2481T>G (p.Ser827=)
c.3459T>G (p.Ser1153=)
n.3277T>G
n.3485T>G
1g.197435187T=CA1218068828CRB1c.3324T= (p.Ser1108=)
c.2205T= (p.Ser735=)
c.1467T= (p.Ser489=)
c.2988T= (p.Ser996=)
c.3252T= (p.Ser1084=)
c.2129-413T= (n.2129-413T=)
n.3325T=
n.3533T=
c.2742T= (p.Ser914=)
c.1767T= (p.Ser589=)
c.2481T= (p.Ser827=)
c.3459T= (p.Ser1153=)
n.3277T=
n.3485T=
1g.197435188dupCA2499214383CRB1c.3325dup (p.Tyr1109LeufsTer3)
c.2206dup (p.Tyr736LeufsTer3)
c.1468dup (p.Tyr490LeufsTer3)
c.2989dup (p.Tyr997LeufsTer3)
c.3253dup (p.Tyr1085LeufsTer3)
c.2129-412dup (n.2129-412dup)
n.3326dup
n.3534dup
c.2743dup (p.Tyr915LeufsTer3)
c.1768dup (p.Tyr590LeufsTer3)
c.2482dup (p.Tyr828LeufsTer3)
c.3460dup (p.Tyr1154LeufsTer3)
n.3278dup
n.3486dup
 ClinVar dbSNP
1g.197435188T>ACA344047075CRB1c.3325T>A (p.Tyr1109Asn)
c.2206T>A (p.Tyr736Asn)
c.1468T>A (p.Tyr490Asn)
c.2989T>A (p.Tyr997Asn)
c.3253T>A (p.Tyr1085Asn)
c.2129-412T>A (n.2129-412T>A)
n.3326T>A
n.3534T>A
c.2743T>A (p.Tyr915Asn)
c.1768T>A (p.Tyr590Asn)
c.2482T>A (p.Tyr828Asn)
c.3460T>A (p.Tyr1154Asn)
n.3278T>A
n.3486T>A
1g.197435188T>CCA344047076CRB1c.3325T>C (p.Tyr1109His)
c.2206T>C (p.Tyr736His)
c.1468T>C (p.Tyr490His)
c.2989T>C (p.Tyr997His)
c.3253T>C (p.Tyr1085His)
c.2129-412T>C (n.2129-412T>C)
n.3326T>C
n.3534T>C
c.2743T>C (p.Tyr915His)
c.1768T>C (p.Tyr590His)
c.2482T>C (p.Tyr828His)
c.3460T>C (p.Tyr1154His)
n.3278T>C
n.3486T>C
 gnomAD v4
1g.197435188T>GCA344047077CRB1c.3325T>G (p.Tyr1109Asp)
c.2206T>G (p.Tyr736Asp)
c.1468T>G (p.Tyr490Asp)
c.2989T>G (p.Tyr997Asp)
c.3253T>G (p.Tyr1085Asp)
c.2129-412T>G (n.2129-412T>G)
n.3326T>G
n.3534T>G
c.2743T>G (p.Tyr915Asp)
c.1768T>G (p.Tyr590Asp)
c.2482T>G (p.Tyr828Asp)
c.3460T>G (p.Tyr1154Asp)
n.3278T>G
n.3486T>G
1g.197435188_197435189delCA2573131450CRB1c.3325_3326del (p.Tyr1109LeufsTer2)
c.2206_2207del (p.Tyr736LeufsTer2)
c.1468_1469del (p.Tyr490LeufsTer2)
c.2989_2990del (p.Tyr997LeufsTer2)
c.3253_3254del (p.Tyr1085LeufsTer2)
c.2129-412_2129-411del (n.2129-412_2129-411del)
n.3326_3327del
n.3534_3535del
c.2743_2744del (p.Tyr915LeufsTer2)
c.1768_1769del (p.Tyr590LeufsTer2)
c.2482_2483del (p.Tyr828LeufsTer2)
c.3460_3461del (p.Tyr1154LeufsTer2)
n.3278_3279del
n.3486_3487del
 ClinVar dbSNP
1g.197435189A>CCA344047079CRB1c.3326A>C (p.Tyr1109Ser)
c.2207A>C (p.Tyr736Ser)
c.1469A>C (p.Tyr490Ser)
c.2990A>C (p.Tyr997Ser)
c.3254A>C (p.Tyr1085Ser)
c.2129-411A>C (n.2129-411A>C)
n.3327A>C
n.3535A>C
c.2744A>C (p.Tyr915Ser)
c.1769A>C (p.Tyr590Ser)
c.2483A>C (p.Tyr828Ser)
c.3461A>C (p.Tyr1154Ser)
n.3279A>C
n.3487A>C
1g.197435189A>GCA344047080CRB1c.3326A>G (p.Tyr1109Cys)
c.2207A>G (p.Tyr736Cys)
c.1469A>G (p.Tyr490Cys)
c.2990A>G (p.Tyr997Cys)
c.3254A>G (p.Tyr1085Cys)
c.2129-411A>G (n.2129-411A>G)
n.3327A>G
n.3535A>G
c.2744A>G (p.Tyr915Cys)
c.1769A>G (p.Tyr590Cys)
c.2483A>G (p.Tyr828Cys)
c.3461A>G (p.Tyr1154Cys)
n.3279A>G
n.3487A>G
1g.197435189A>TCA344047082CRB1c.3326A>T (p.Tyr1109Phe)
c.2207A>T (p.Tyr736Phe)
c.1469A>T (p.Tyr490Phe)
c.2990A>T (p.Tyr997Phe)
c.3254A>T (p.Tyr1085Phe)
c.2129-411A>T (n.2129-411A>T)
n.3327A>T
n.3535A>T
c.2744A>T (p.Tyr915Phe)
c.1769A>T (p.Tyr590Phe)
c.2483A>T (p.Tyr828Phe)
c.3461A>T (p.Tyr1154Phe)
n.3279A>T
n.3487A>T
1g.197435190C>ACA344047084CRB1c.3327C>A (p.Tyr1109Ter)
c.2208C>A (p.Tyr736Ter)
c.1470C>A (p.Tyr490Ter)
c.2991C>A (p.Tyr997Ter)
c.3255C>A (p.Tyr1085Ter)
c.2129-410C>A (n.2129-410C>A)
n.3328C>A
n.3536C>A
c.2745C>A (p.Tyr915Ter)
c.1770C>A (p.Tyr590Ter)
c.2484C>A (p.Tyr828Ter)
c.3462C>A (p.Tyr1154Ter)
n.3280C>A
n.3488C>A
1g.197435190C>GCA344047086CRB1c.3327C>G (p.Tyr1109Ter)
c.2208C>G (p.Tyr736Ter)
c.1470C>G (p.Tyr490Ter)
c.2991C>G (p.Tyr997Ter)
c.3255C>G (p.Tyr1085Ter)
c.2129-410C>G (n.2129-410C>G)
n.3328C>G
n.3536C>G
c.2745C>G (p.Tyr915Ter)
c.1770C>G (p.Tyr590Ter)
c.2484C>G (p.Tyr828Ter)
c.3462C>G (p.Tyr1154Ter)
n.3280C>G
n.3488C>G
1g.197435190C>TCA422809181CRB1c.3327C>T (p.Tyr1109=)
c.2208C>T (p.Tyr736=)
c.1470C>T (p.Tyr490=)
c.2991C>T (p.Tyr997=)
c.3255C>T (p.Tyr1085=)
c.2129-410C>T (n.2129-410C>T)
n.3328C>T
n.3536C>T
c.2745C>T (p.Tyr915=)
c.1770C>T (p.Tyr590=)
c.2484C>T (p.Tyr828=)
c.3462C>T (p.Tyr1154=)
n.3280C>T
n.3488C>T
 ClinVar
1g.197435191T>ACA344047089CRB1c.3328T>A (p.Phe1110Ile)
c.2209T>A (p.Phe737Ile)
c.1471T>A (p.Phe491Ile)
c.2992T>A (p.Phe998Ile)
c.3256T>A (p.Phe1086Ile)
c.2129-409T>A (n.2129-409T>A)
n.3329T>A
n.3537T>A
c.2746T>A (p.Phe916Ile)
c.1771T>A (p.Phe591Ile)
c.2485T>A (p.Phe829Ile)
c.3463T>A (p.Phe1155Ile)
n.3281T>A
n.3489T>A
1g.197435191T>CCA344047091CRB1c.3328T>C (p.Phe1110Leu)
c.2209T>C (p.Phe737Leu)
c.1471T>C (p.Phe491Leu)
c.2992T>C (p.Phe998Leu)
c.3256T>C (p.Phe1086Leu)
c.2129-409T>C (n.2129-409T>C)
n.3329T>C
n.3537T>C
c.2746T>C (p.Phe916Leu)
c.1771T>C (p.Phe591Leu)
c.2485T>C (p.Phe829Leu)
c.3463T>C (p.Phe1155Leu)
n.3281T>C
n.3489T>C
1g.197435191T>GCA344047093CRB1c.3328T>G (p.Phe1110Val)
c.2209T>G (p.Phe737Val)
c.1471T>G (p.Phe491Val)
c.2992T>G (p.Phe998Val)
c.3256T>G (p.Phe1086Val)
c.2129-409T>G (n.2129-409T>G)
n.3329T>G
n.3537T>G
c.2746T>G (p.Phe916Val)
c.1771T>G (p.Phe591Val)
c.2485T>G (p.Phe829Val)
c.3463T>G (p.Phe1155Val)
n.3281T>G
n.3489T>G
1g.197435192T>ACA344047107CRB1c.3329T>A (p.Phe1110Tyr)
c.2210T>A (p.Phe737Tyr)
c.1472T>A (p.Phe491Tyr)
c.2993T>A (p.Phe998Tyr)
c.3257T>A (p.Phe1086Tyr)
c.2129-408T>A (n.2129-408T>A)
n.3330T>A
n.3538T>A
c.2747T>A (p.Phe916Tyr)
c.1772T>A (p.Phe591Tyr)
c.2486T>A (p.Phe829Tyr)
c.3464T>A (p.Phe1155Tyr)
n.3282T>A
n.3490T>A
1g.197435192T>CCA344047102CRB1c.3329T>C (p.Phe1110Ser)
c.2210T>C (p.Phe737Ser)
c.1472T>C (p.Phe491Ser)
c.2993T>C (p.Phe998Ser)
c.3257T>C (p.Phe1086Ser)
c.2129-408T>C (n.2129-408T>C)
n.3330T>C
n.3538T>C
c.2747T>C (p.Phe916Ser)
c.1772T>C (p.Phe591Ser)
c.2486T>C (p.Phe829Ser)
c.3464T>C (p.Phe1155Ser)
n.3282T>C
n.3490T>C
1g.197435192T>GCA344047105CRB1c.3329T>G (p.Phe1110Cys)
c.2210T>G (p.Phe737Cys)
c.1472T>G (p.Phe491Cys)
c.2993T>G (p.Phe998Cys)
c.3257T>G (p.Phe1086Cys)
c.2129-408T>G (n.2129-408T>G)
n.3330T>G
n.3538T>G
c.2747T>G (p.Phe916Cys)
c.1772T>G (p.Phe591Cys)
c.2486T>G (p.Phe829Cys)
c.3464T>G (p.Phe1155Cys)
n.3282T>G
n.3490T>G
 ClinVar dbSNP gnomAD v4
1g.197435192T=CA1218068829CRB1c.3329T= (p.Phe1110=)
c.2210T= (p.Phe737=)
c.1472T= (p.Phe491=)
c.2993T= (p.Phe998=)
c.3257T= (p.Phe1086=)
c.2129-408T= (n.2129-408T=)
n.3330T=
n.3538T=
c.2747T= (p.Phe916=)
c.1772T= (p.Phe591=)
c.2486T= (p.Phe829=)
c.3464T= (p.Phe1155=)
n.3282T=
n.3490T=
1g.197435193T>ACA344047110CRB1c.3330T>A (p.Phe1110Leu)
c.2211T>A (p.Phe737Leu)
c.1473T>A (p.Phe491Leu)
c.2994T>A (p.Phe998Leu)
c.3258T>A (p.Phe1086Leu)
c.2129-407T>A (n.2129-407T>A)
n.3331T>A
n.3539T>A
c.2748T>A (p.Phe916Leu)
c.1773T>A (p.Phe591Leu)
c.2487T>A (p.Phe829Leu)
c.3465T>A (p.Phe1155Leu)
n.3283T>A
n.3491T>A
1g.197435193T>CCA422809183CRB1c.3330T>C (p.Phe1110=)
c.2211T>C (p.Phe737=)
c.1473T>C (p.Phe491=)
c.2994T>C (p.Phe998=)
c.3258T>C (p.Phe1086=)
c.2129-407T>C (n.2129-407T>C)
n.3331T>C
n.3539T>C
c.2748T>C (p.Phe916=)
c.1773T>C (p.Phe591=)
c.2487T>C (p.Phe829=)
c.3465T>C (p.Phe1155=)
n.3283T>C
n.3491T>C
1g.197435193T>GCA344047112CRB1c.3330T>G (p.Phe1110Leu)
c.2211T>G (p.Phe737Leu)
c.1473T>G (p.Phe491Leu)
c.2994T>G (p.Phe998Leu)
c.3258T>G (p.Phe1086Leu)
c.2129-407T>G (n.2129-407T>G)
n.3331T>G
n.3539T>G
c.2748T>G (p.Phe916Leu)
c.1773T>G (p.Phe591Leu)
c.2487T>G (p.Phe829Leu)
c.3465T>G (p.Phe1155Leu)
n.3283T>G
n.3491T>G
 dbSNP gnomAD v3 gnomAD v4
1g.197435193T=CA1218068830CRB1c.3330T= (p.Phe1110=)
c.2211T= (p.Phe737=)
c.1473T= (p.Phe491=)
c.2994T= (p.Phe998=)
c.3258T= (p.Phe1086=)
c.2129-407T= (n.2129-407T=)
n.3331T=
n.3539T=
c.2748T= (p.Phe916=)
c.1773T= (p.Phe591=)
c.2487T= (p.Phe829=)
c.3465T= (p.Phe1155=)
n.3283T=
n.3491T=
1g.197435194G>ACA344047115CRB1c.3331G>A (p.Glu1111Lys)
c.2212G>A (p.Glu738Lys)
c.1474G>A (p.Glu492Lys)
c.2995G>A (p.Glu999Lys)
c.3259G>A (p.Glu1087Lys)
c.2129-406G>A (n.2129-406G>A)
n.3332G>A
n.3540G>A
c.2749G>A (p.Glu917Lys)
c.1774G>A (p.Glu592Lys)
c.2488G>A (p.Glu830Lys)
c.3466G>A (p.Glu1156Lys)
n.3284G>A
n.3492G>A
1g.197435194G>CCA344047117CRB1c.3331G>C (p.Glu1111Gln)
c.2212G>C (p.Glu738Gln)
c.1474G>C (p.Glu492Gln)
c.2995G>C (p.Glu999Gln)
c.3259G>C (p.Glu1087Gln)
c.2129-406G>C (n.2129-406G>C)
n.3332G>C
n.3540G>C
c.2749G>C (p.Glu917Gln)
c.1774G>C (p.Glu592Gln)
c.2488G>C (p.Glu830Gln)
c.3466G>C (p.Glu1156Gln)
n.3284G>C
n.3492G>C
1g.197435194G=CA1140762966CRB1c.3331G= (p.Glu1111=)
c.2212G= (p.Glu738=)
c.1474G= (p.Glu492=)
c.2995G= (p.Glu999=)
c.3259G= (p.Glu1087=)
c.2129-406G= (n.2129-406G=)
n.3332G=
n.3540G=
c.2749G= (p.Glu917=)
c.1774G= (p.Glu592=)
c.2488G= (p.Glu830=)
c.3466G= (p.Glu1156=)
n.3284G=
n.3492G=
1g.197435194G>TCA228038CRB1c.3331G>T (p.Glu1111Ter)
c.2212G>T (p.Glu738Ter)
c.1474G>T (p.Glu492Ter)
c.2995G>T (p.Glu999Ter)
c.3259G>T (p.Glu1087Ter)
c.2129-406G>T (n.2129-406G>T)
n.3332G>T
n.3540G>T
c.2749G>T (p.Glu917Ter)
c.1774G>T (p.Glu592Ter)
c.2488G>T (p.Glu830Ter)
c.3466G>T (p.Glu1156Ter)
n.3284G>T
n.3492G>T
 ClinVar dbSNP
1g.197435195A>CCA344047125CRB1c.3332A>C (p.Glu1111Ala)
c.2213A>C (p.Glu738Ala)
c.1475A>C (p.Glu492Ala)
c.2996A>C (p.Glu999Ala)
c.3260A>C (p.Glu1087Ala)
c.2129-405A>C (n.2129-405A>C)
n.3333A>C
n.3541A>C
c.2750A>C (p.Glu917Ala)
c.1775A>C (p.Glu592Ala)
c.2489A>C (p.Glu830Ala)
c.3467A>C (p.Glu1156Ala)
n.3285A>C
n.3493A>C
1g.197435195A>GCA344047127CRB1c.3332A>G (p.Glu1111Gly)
c.2213A>G (p.Glu738Gly)
c.1475A>G (p.Glu492Gly)
c.2996A>G (p.Glu999Gly)
c.3260A>G (p.Glu1087Gly)
c.2129-405A>G (n.2129-405A>G)
n.3333A>G
n.3541A>G
c.2750A>G (p.Glu917Gly)
c.1775A>G (p.Glu592Gly)
c.2489A>G (p.Glu830Gly)
c.3467A>G (p.Glu1156Gly)
n.3285A>G
n.3493A>G
1g.197435195A>TCA344047129CRB1c.3332A>T (p.Glu1111Val)
c.2213A>T (p.Glu738Val)
c.1475A>T (p.Glu492Val)
c.2996A>T (p.Glu999Val)
c.3260A>T (p.Glu1087Val)
c.2129-405A>T (n.2129-405A>T)
n.3333A>T
n.3541A>T
c.2750A>T (p.Glu917Val)
c.1775A>T (p.Glu592Val)
c.2489A>T (p.Glu830Val)
c.3467A>T (p.Glu1156Val)
n.3285A>T
n.3493A>T
1g.197435196A>CCA344047130CRB1c.3333A>C (p.Glu1111Asp)
c.2214A>C (p.Glu738Asp)
c.1476A>C (p.Glu492Asp)
c.2997A>C (p.Glu999Asp)
c.3261A>C (p.Glu1087Asp)
c.2129-404A>C (n.2129-404A>C)
n.3334A>C
n.3542A>C
c.2751A>C (p.Glu917Asp)
c.1776A>C (p.Glu592Asp)
c.2490A>C (p.Glu830Asp)
c.3468A>C (p.Glu1156Asp)
n.3286A>C
n.3494A>C
 COSMIC COSMIC
1g.197435196A>GCA422809191CRB1c.3333A>G (p.Glu1111=)
c.2214A>G (p.Glu738=)
c.1476A>G (p.Glu492=)
c.2997A>G (p.Glu999=)
c.3261A>G (p.Glu1087=)
c.2129-404A>G (n.2129-404A>G)
n.3334A>G
n.3542A>G
c.2751A>G (p.Glu917=)
c.1776A>G (p.Glu592=)
c.2490A>G (p.Glu830=)
c.3468A>G (p.Glu1156=)
n.3286A>G
n.3494A>G
1g.197435196A>TCA344047132CRB1c.3333A>T (p.Glu1111Asp)
c.2214A>T (p.Glu738Asp)
c.1476A>T (p.Glu492Asp)
c.2997A>T (p.Glu999Asp)
c.3261A>T (p.Glu1087Asp)
c.2129-404A>T (n.2129-404A>T)
n.3334A>T
n.3542A>T
c.2751A>T (p.Glu917Asp)
c.1776A>T (p.Glu592Asp)
c.2490A>T (p.Glu830Asp)
c.3468A>T (p.Glu1156Asp)
n.3286A>T
n.3494A>T
1g.197435197A>CCA344047139CRB1c.3334A>C (p.Asn1112His)
c.2215A>C (p.Asn739His)
c.1477A>C (p.Asn493His)
c.2998A>C (p.Asn1000His)
c.3262A>C (p.Asn1088His)
c.2129-403A>C (n.2129-403A>C)
n.3335A>C
n.3543A>C
c.2752A>C (p.Asn918His)
c.1777A>C (p.Asn593His)
c.2491A>C (p.Asn831His)
c.3469A>C (p.Asn1157His)
n.3287A>C
n.3495A>C
1g.197435197A>GCA344047137CRB1c.3334A>G (p.Asn1112Asp)
c.2215A>G (p.Asn739Asp)
c.1477A>G (p.Asn493Asp)
c.2998A>G (p.Asn1000Asp)
c.3262A>G (p.Asn1088Asp)
c.2129-403A>G (n.2129-403A>G)
n.3335A>G
n.3543A>G
c.2752A>G (p.Asn918Asp)
c.1777A>G (p.Asn593Asp)
c.2491A>G (p.Asn831Asp)
c.3469A>G (p.Asn1157Asp)
n.3287A>G
n.3495A>G
1g.197435197A>TCA344047135CRB1c.3334A>T (p.Asn1112Tyr)
c.2215A>T (p.Asn739Tyr)
c.1477A>T (p.Asn493Tyr)
c.2998A>T (p.Asn1000Tyr)
c.3262A>T (p.Asn1088Tyr)
c.2129-403A>T (n.2129-403A>T)
n.3335A>T
n.3543A>T
c.2752A>T (p.Asn918Tyr)
c.1777A>T (p.Asn593Tyr)
c.2491A>T (p.Asn831Tyr)
c.3469A>T (p.Asn1157Tyr)
n.3287A>T
n.3495A>T
1g.197435198A>CCA344047141CRB1c.3335A>C (p.Asn1112Thr)
c.2216A>C (p.Asn739Thr)
c.1478A>C (p.Asn493Thr)
c.2999A>C (p.Asn1000Thr)
c.3263A>C (p.Asn1088Thr)
c.2129-402A>C (n.2129-402A>C)
n.3336A>C
n.3544A>C
c.2753A>C (p.Asn918Thr)
c.1778A>C (p.Asn593Thr)
c.2492A>C (p.Asn831Thr)
c.3470A>C (p.Asn1157Thr)
n.3288A>C
n.3496A>C
1g.197435198A>GCA344047150CRB1c.3335A>G (p.Asn1112Ser)
c.2216A>G (p.Asn739Ser)
c.1478A>G (p.Asn493Ser)
c.2999A>G (p.Asn1000Ser)
c.3263A>G (p.Asn1088Ser)
c.2129-402A>G (n.2129-402A>G)
n.3336A>G
n.3544A>G
c.2753A>G (p.Asn918Ser)
c.1778A>G (p.Asn593Ser)
c.2492A>G (p.Asn831Ser)
c.3470A>G (p.Asn1157Ser)
n.3288A>G
n.3496A>G
1g.197435198A>TCA344047152CRB1c.3335A>T (p.Asn1112Ile)
c.2216A>T (p.Asn739Ile)
c.1478A>T (p.Asn493Ile)
c.2999A>T (p.Asn1000Ile)
c.3263A>T (p.Asn1088Ile)
c.2129-402A>T (n.2129-402A>T)
n.3336A>T
n.3544A>T
c.2753A>T (p.Asn918Ile)
c.1778A>T (p.Asn593Ile)
c.2492A>T (p.Asn831Ile)
c.3470A>T (p.Asn1157Ile)
n.3288A>T
n.3496A>T
1g.197435199T>ACA344047162CRB1c.3336T>A (p.Asn1112Lys)
c.2217T>A (p.Asn739Lys)
c.1479T>A (p.Asn493Lys)
c.3000T>A (p.Asn1000Lys)
c.3264T>A (p.Asn1088Lys)
c.2129-401T>A (n.2129-401T>A)
n.3337T>A
n.3545T>A
c.2754T>A (p.Asn918Lys)
c.1779T>A (p.Asn593Lys)
c.2493T>A (p.Asn831Lys)
c.3471T>A (p.Asn1157Lys)
n.3289T>A
n.3497T>A
1g.197435199T>CCA422809200CRB1c.3336T>C (p.Asn1112=)
c.2217T>C (p.Asn739=)
c.1479T>C (p.Asn493=)
c.3000T>C (p.Asn1000=)
c.3264T>C (p.Asn1088=)
c.2129-401T>C (n.2129-401T>C)
n.3337T>C
n.3545T>C
c.2754T>C (p.Asn918=)
c.1779T>C (p.Asn593=)
c.2493T>C (p.Asn831=)
c.3471T>C (p.Asn1157=)
n.3289T>C
n.3497T>C
1g.197435199T>GCA344047163CRB1c.3336T>G (p.Asn1112Lys)
c.2217T>G (p.Asn739Lys)
c.1479T>G (p.Asn493Lys)
c.3000T>G (p.Asn1000Lys)
c.3264T>G (p.Asn1088Lys)
c.2129-401T>G (n.2129-401T>G)
n.3337T>G
n.3545T>G
c.2754T>G (p.Asn918Lys)
c.1779T>G (p.Asn593Lys)
c.2493T>G (p.Asn831Lys)
c.3471T>G (p.Asn1157Lys)
n.3289T>G
n.3497T>G
1g.197435200G>ACA344047167CRB1c.3337G>A (p.Val1113Ile)
c.2218G>A (p.Val740Ile)
c.1480G>A (p.Val494Ile)
c.3001G>A (p.Val1001Ile)
c.3265G>A (p.Val1089Ile)
c.2129-400G>A (n.2129-400G>A)
n.3338G>A
n.3546G>A
c.2755G>A (p.Val919Ile)
c.1780G>A (p.Val594Ile)
c.2494G>A (p.Val832Ile)
c.3472G>A (p.Val1158Ile)
n.3290G>A
n.3498G>A
 dbSNP gnomAD v2 gnomAD v4
1g.197435200G>CCA344047169CRB1c.3337G>C (p.Val1113Leu)
c.2218G>C (p.Val740Leu)
c.1480G>C (p.Val494Leu)
c.3001G>C (p.Val1001Leu)
c.3265G>C (p.Val1089Leu)
c.2129-400G>C (n.2129-400G>C)
n.3338G>C
n.3546G>C
c.2755G>C (p.Val919Leu)
c.1780G>C (p.Val594Leu)
c.2494G>C (p.Val832Leu)
c.3472G>C (p.Val1158Leu)
n.3290G>C
n.3498G>C
1g.197435200G=CA1218068831CRB1c.3337G= (p.Val1113=)
c.2218G= (p.Val740=)
c.1480G= (p.Val494=)
c.3001G= (p.Val1001=)
c.3265G= (p.Val1089=)
c.2129-400G= (n.2129-400G=)
n.3338G=
n.3546G=
c.2755G= (p.Val919=)
c.1780G= (p.Val594=)
c.2494G= (p.Val832=)
c.3472G= (p.Val1158=)
n.3290G=
n.3498G=
1g.197435200G>TCA344047170CRB1c.3337G>T (p.Val1113Phe)
c.2218G>T (p.Val740Phe)
c.1480G>T (p.Val494Phe)
c.3001G>T (p.Val1001Phe)
c.3265G>T (p.Val1089Phe)
c.2129-400G>T (n.2129-400G>T)
n.3338G>T
n.3546G>T
c.2755G>T (p.Val919Phe)
c.1780G>T (p.Val594Phe)
c.2494G>T (p.Val832Phe)
c.3472G>T (p.Val1158Phe)
n.3290G>T
n.3498G>T
1g.197435201T>ACA344047172CRB1c.3338T>A (p.Val1113Asp)
c.2219T>A (p.Val740Asp)
c.1481T>A (p.Val494Asp)
c.3002T>A (p.Val1001Asp)
c.3266T>A (p.Val1089Asp)
c.2129-399T>A (n.2129-399T>A)
n.3339T>A
n.3547T>A
c.2756T>A (p.Val919Asp)
c.1781T>A (p.Val594Asp)
c.2495T>A (p.Val832Asp)
c.3473T>A (p.Val1158Asp)
n.3291T>A
n.3499T>A
1g.197435201T>CCA344047174CRB1c.3338T>C (p.Val1113Ala)
c.2219T>C (p.Val740Ala)
c.1481T>C (p.Val494Ala)
c.3002T>C (p.Val1001Ala)
c.3266T>C (p.Val1089Ala)
c.2129-399T>C (n.2129-399T>C)
n.3339T>C
n.3547T>C
c.2756T>C (p.Val919Ala)
c.1781T>C (p.Val594Ala)
c.2495T>C (p.Val832Ala)
c.3473T>C (p.Val1158Ala)
n.3291T>C
n.3499T>C
1g.197435201T>GCA344047176CRB1c.3338T>G (p.Val1113Gly)
c.2219T>G (p.Val740Gly)
c.1481T>G (p.Val494Gly)
c.3002T>G (p.Val1001Gly)
c.3266T>G (p.Val1089Gly)
c.2129-399T>G (n.2129-399T>G)
n.3339T>G
n.3547T>G
c.2756T>G (p.Val919Gly)
c.1781T>G (p.Val594Gly)
c.2495T>G (p.Val832Gly)
c.3473T>G (p.Val1158Gly)
n.3291T>G
n.3499T>G
1g.197435202T>ACA422809203CRB1c.3339T>A (p.Val1113=)
c.2220T>A (p.Val740=)
c.1482T>A (p.Val494=)
c.3003T>A (p.Val1001=)
c.3267T>A (p.Val1089=)
c.2129-398T>A (n.2129-398T>A)
n.3340T>A
n.3548T>A
c.2757T>A (p.Val919=)
c.1782T>A (p.Val594=)
c.2496T>A (p.Val832=)
c.3474T>A (p.Val1158=)
n.3292T>A
n.3500T>A
1g.197435202T>CCA422809206CRB1c.3339T>C (p.Val1113=)
c.2220T>C (p.Val740=)
c.1482T>C (p.Val494=)
c.3003T>C (p.Val1001=)
c.3267T>C (p.Val1089=)
c.2129-398T>C (n.2129-398T>C)
n.3340T>C
n.3548T>C
c.2757T>C (p.Val919=)
c.1782T>C (p.Val594=)
c.2496T>C (p.Val832=)
c.3474T>C (p.Val1158=)
n.3292T>C
n.3500T>C
1g.197435202T>GCA422809207CRB1c.3339T>G (p.Val1113=)
c.2220T>G (p.Val740=)
c.1482T>G (p.Val494=)
c.3003T>G (p.Val1001=)
c.3267T>G (p.Val1089=)
c.2129-398T>G (n.2129-398T>G)
n.3340T>G
n.3548T>G
c.2757T>G (p.Val919=)
c.1782T>G (p.Val594=)
c.2496T>G (p.Val832=)
c.3474T>G (p.Val1158=)
n.3292T>G
n.3500T>G
1g.197435203C>ACA344047183CRB1c.3340C>A (p.His1114Asn)
c.2221C>A (p.His741Asn)
c.1483C>A (p.His495Asn)
c.3004C>A (p.His1002Asn)
c.3268C>A (p.His1090Asn)
c.2129-397C>A (n.2129-397C>A)
n.3341C>A
n.3549C>A
c.2758C>A (p.His920Asn)
c.1783C>A (p.His595Asn)
c.2497C>A (p.His833Asn)
c.3475C>A (p.His1159Asn)
n.3293C>A
n.3501C>A
 gnomAD v4
1g.197435203C>GCA344047181CRB1c.3340C>G (p.His1114Asp)
c.2221C>G (p.His741Asp)
c.1483C>G (p.His495Asp)
c.3004C>G (p.His1002Asp)
c.3268C>G (p.His1090Asp)
c.2129-397C>G (n.2129-397C>G)
n.3341C>G
n.3549C>G
c.2758C>G (p.His920Asp)
c.1783C>G (p.His595Asp)
c.2497C>G (p.His833Asp)
c.3475C>G (p.His1159Asp)
n.3293C>G
n.3501C>G
1g.197435203C>TCA344047179CRB1c.3340C>T (p.His1114Tyr)
c.2221C>T (p.His741Tyr)
c.1483C>T (p.His495Tyr)
c.3004C>T (p.His1002Tyr)
c.3268C>T (p.His1090Tyr)
c.2129-397C>T (n.2129-397C>T)
n.3341C>T
n.3549C>T
c.2758C>T (p.His920Tyr)
c.1783C>T (p.His595Tyr)
c.2497C>T (p.His833Tyr)
c.3475C>T (p.His1159Tyr)
n.3293C>T
n.3501C>T
 gnomAD v4
1g.197435204A=CA1218068832CRB1c.3341A= (p.His1114=)
c.2222A= (p.His741=)
c.1484A= (p.His495=)
c.3005A= (p.His1002=)
c.3269A= (p.His1090=)
c.2129-396A= (n.2129-396A=)
n.3342A=
n.3550A=
c.2759A= (p.His920=)
c.1784A= (p.His595=)
c.2498A= (p.His833=)
c.3476A= (p.His1159=)
n.3294A=
n.3502A=
1g.197435204A>CCA344047185CRB1c.3341A>C (p.His1114Pro)
c.2222A>C (p.His741Pro)
c.1484A>C (p.His495Pro)
c.3005A>C (p.His1002Pro)
c.3269A>C (p.His1090Pro)
c.2129-396A>C (n.2129-396A>C)
n.3342A>C
n.3550A>C
c.2759A>C (p.His920Pro)
c.1784A>C (p.His595Pro)
c.2498A>C (p.His833Pro)
c.3476A>C (p.His1159Pro)
n.3294A>C
n.3502A>C
1g.197435204A>GCA344047187CRB1c.3341A>G (p.His1114Arg)
c.2222A>G (p.His741Arg)
c.1484A>G (p.His495Arg)
c.3005A>G (p.His1002Arg)
c.3269A>G (p.His1090Arg)
c.2129-396A>G (n.2129-396A>G)
n.3342A>G
n.3550A>G
c.2759A>G (p.His920Arg)
c.1784A>G (p.His595Arg)
c.2498A>G (p.His833Arg)
c.3476A>G (p.His1159Arg)
n.3294A>G
n.3502A>G
 gnomAD v4
1g.197435204A>TCA344047188CRB1c.3341A>T (p.His1114Leu)
c.2222A>T (p.His741Leu)
c.1484A>T (p.His495Leu)
c.3005A>T (p.His1002Leu)
c.3269A>T (p.His1090Leu)
c.2129-396A>T (n.2129-396A>T)
n.3342A>T
n.3550A>T
c.2759A>T (p.His920Leu)
c.1784A>T (p.His595Leu)
c.2498A>T (p.His833Leu)
c.3476A>T (p.His1159Leu)
n.3294A>T
n.3502A>T
 dbSNP gnomAD v2 gnomAD v4
1g.197435205T>ACA344047190CRB1c.3342T>A (p.His1114Gln)
c.2223T>A (p.His741Gln)
c.1485T>A (p.His495Gln)
c.3006T>A (p.His1002Gln)
c.3270T>A (p.His1090Gln)
c.2129-395T>A (n.2129-395T>A)
n.3343T>A
n.3551T>A
c.2760T>A (p.His920Gln)
c.1785T>A (p.His595Gln)
c.2499T>A (p.His833Gln)
c.3477T>A (p.His1159Gln)
n.3295T>A
n.3503T>A
1g.197435205T>CCA422809211CRB1c.3342T>C (p.His1114=)
c.2223T>C (p.His741=)
c.1485T>C (p.His495=)
c.3006T>C (p.His1002=)
c.3270T>C (p.His1090=)
c.2129-395T>C (n.2129-395T>C)
n.3343T>C
n.3551T>C
c.2760T>C (p.His920=)
c.1785T>C (p.His595=)
c.2499T>C (p.His833=)
c.3477T>C (p.His1159=)
n.3295T>C
n.3503T>C
1g.197435205T>GCA344047192CRB1c.3342T>G (p.His1114Gln)
c.2223T>G (p.His741Gln)
c.1485T>G (p.His495Gln)
c.3006T>G (p.His1002Gln)
c.3270T>G (p.His1090Gln)
c.2129-395T>G (n.2129-395T>G)
n.3343T>G
n.3551T>G
c.2760T>G (p.His920Gln)
c.1785T>G (p.His595Gln)
c.2499T>G (p.His833Gln)
c.3477T>G (p.His1159Gln)
n.3295T>G
n.3503T>G
1g.197435206G>ACA344047195CRB1c.3343G>A (p.Gly1115Ser)
c.2224G>A (p.Gly742Ser)
c.1486G>A (p.Gly496Ser)
c.3007G>A (p.Gly1003Ser)
c.3271G>A (p.Gly1091Ser)
c.2129-394G>A (n.2129-394G>A)
n.3344G>A
n.3552G>A
c.2761G>A (p.Gly921Ser)
c.1786G>A (p.Gly596Ser)
c.2500G>A (p.Gly834Ser)
c.3478G>A (p.Gly1160Ser)
n.3296G>A
n.3504G>A
 gnomAD v4
1g.197435206G>CCA1312319CRB1c.3343G>C (p.Gly1115Arg)
c.2224G>C (p.Gly742Arg)
c.1486G>C (p.Gly496Arg)
c.3007G>C (p.Gly1003Arg)
c.3271G>C (p.Gly1091Arg)
c.2129-394G>C (n.2129-394G>C)
n.3344G>C
n.3552G>C
c.2761G>C (p.Gly921Arg)
c.1786G>C (p.Gly596Arg)
c.2500G>C (p.Gly834Arg)
c.3478G>C (p.Gly1160Arg)
n.3296G>C
n.3504G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435206G=CA1218068833CRB1c.3343G= (p.Gly1115=)
c.2224G= (p.Gly742=)
c.1486G= (p.Gly496=)
c.3007G= (p.Gly1003=)
c.3271G= (p.Gly1091=)
c.2129-394G= (n.2129-394G=)
n.3344G=
n.3552G=
c.2761G= (p.Gly921=)
c.1786G= (p.Gly596=)
c.2500G= (p.Gly834=)
c.3478G= (p.Gly1160=)
n.3296G=
n.3504G=
1g.197435206G>TCA1312318CRB1c.3343G>T (p.Gly1115Cys)
c.2224G>T (p.Gly742Cys)
c.1486G>T (p.Gly496Cys)
c.3007G>T (p.Gly1003Cys)
c.3271G>T (p.Gly1091Cys)
c.2129-394G>T (n.2129-394G>T)
n.3344G>T
n.3552G>T
c.2761G>T (p.Gly921Cys)
c.1786G>T (p.Gly596Cys)
c.2500G>T (p.Gly834Cys)
c.3478G>T (p.Gly1160Cys)
n.3296G>T
n.3504G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435206_197435215delCA2586967866CRB1c.3343_3352del (p.Gly1115IlefsTer23)
c.2224_2233del (p.Gly742IlefsTer23)
c.1486_1495del (p.Gly496IlefsTer23)
c.3007_3016del (p.Gly1003IlefsTer23)
c.3271_3280del (p.Gly1091IlefsTer23)
c.2129-394_2129-385del (n.2129-394_2129-385del)
n.3344_3353del
n.3552_3561del
c.2761_2770del (p.Gly921IlefsTer23)
c.1786_1795del (p.Gly596IlefsTer23)
c.2500_2509del (p.Gly834IlefsTer23)
c.3478_3487del (p.Gly1160IlefsTer23)
n.3296_3305del
n.3504_3513del
 ClinVar
1g.197435207G>ACA344047203CRB1c.3344G>A (p.Gly1115Asp)
c.2225G>A (p.Gly742Asp)
c.1487G>A (p.Gly496Asp)
c.3008G>A (p.Gly1003Asp)
c.3272G>A (p.Gly1091Asp)
c.2129-393G>A (n.2129-393G>A)
n.3345G>A
n.3553G>A
c.2762G>A (p.Gly921Asp)
c.1787G>A (p.Gly596Asp)
c.2501G>A (p.Gly834Asp)
c.3479G>A (p.Gly1160Asp)
n.3297G>A
n.3505G>A
 gnomAD v4
1g.197435207G>CCA344047205CRB1c.3344G>C (p.Gly1115Ala)
c.2225G>C (p.Gly742Ala)
c.1487G>C (p.Gly496Ala)
c.3008G>C (p.Gly1003Ala)
c.3272G>C (p.Gly1091Ala)
c.2129-393G>C (n.2129-393G>C)
n.3345G>C
n.3553G>C
c.2762G>C (p.Gly921Ala)
c.1787G>C (p.Gly596Ala)
c.2501G>C (p.Gly834Ala)
c.3479G>C (p.Gly1160Ala)
n.3297G>C
n.3505G>C
1g.197435207G>TCA344047207CRB1c.3344G>T (p.Gly1115Val)
c.2225G>T (p.Gly742Val)
c.1487G>T (p.Gly496Val)
c.3008G>T (p.Gly1003Val)
c.3272G>T (p.Gly1091Val)
c.2129-393G>T (n.2129-393G>T)
n.3345G>T
n.3553G>T
c.2762G>T (p.Gly921Val)
c.1787G>T (p.Gly596Val)
c.2501G>T (p.Gly834Val)
c.3479G>T (p.Gly1160Val)
n.3297G>T
n.3505G>T
1g.197435207_197435208delinsGTCA1218068834CRB1c.3344_3345delinsGT (p.Gly1115=)
c.2225_2226delinsGT (p.Gly742=)
c.1487_1488delinsGT (p.Gly496=)
c.3008_3009delinsGT (p.Gly1003=)
c.3272_3273delinsGT (p.Gly1091=)
c.2129-393_2129-392delinsGT (n.2129-393_2129-392delinsGT)
n.3345_3346delinsGT
n.3553_3554delinsGT
c.2762_2763delinsGT (p.Gly921=)
c.1787_1788delinsGT (p.Gly596=)
c.2501_2502delinsGT (p.Gly834=)
c.3479_3480delinsGT (p.Gly1160=)
n.3297_3298delinsGT
n.3505_3506delinsGT
1g.197435208T>ACA422809218CRB1c.3345T>A (p.Gly1115=)
c.2226T>A (p.Gly742=)
c.1488T>A (p.Gly496=)
c.3009T>A (p.Gly1003=)
c.3273T>A (p.Gly1091=)
c.2129-392T>A (n.2129-392T>A)
n.3346T>A
n.3554T>A
c.2763T>A (p.Gly921=)
c.1788T>A (p.Gly596=)
c.2502T>A (p.Gly834=)
c.3480T>A (p.Gly1160=)
n.3298T>A
n.3506T>A
1g.197435208T>CCA422809219CRB1c.3345T>C (p.Gly1115=)
c.2226T>C (p.Gly742=)
c.1488T>C (p.Gly496=)
c.3009T>C (p.Gly1003=)
c.3273T>C (p.Gly1091=)
c.2129-392T>C (n.2129-392T>C)
n.3346T>C
n.3554T>C
c.2763T>C (p.Gly921=)
c.1788T>C (p.Gly596=)
c.2502T>C (p.Gly834=)
c.3480T>C (p.Gly1160=)
n.3298T>C
n.3506T>C
 ClinVar dbSNP
1g.197435208T>GCA422809217CRB1c.3345T>G (p.Gly1115=)
c.2226T>G (p.Gly742=)
c.1488T>G (p.Gly496=)
c.3009T>G (p.Gly1003=)
c.3273T>G (p.Gly1091=)
c.2129-392T>G (n.2129-392T>G)
n.3346T>G
n.3554T>G
c.2763T>G (p.Gly921=)
c.1788T>G (p.Gly596=)
c.2502T>G (p.Gly834=)
c.3480T>G (p.Gly1160=)
n.3298T>G
n.3506T>G
1g.197435208T=CA1218068835CRB1c.3345T= (p.Gly1115=)
c.2226T= (p.Gly742=)
c.1488T= (p.Gly496=)
c.3009T= (p.Gly1003=)
c.3273T= (p.Gly1091=)
c.2129-392T= (n.2129-392T=)
n.3346T=
n.3554T=
c.2763T= (p.Gly921=)
c.1788T= (p.Gly596=)
c.2502T= (p.Gly834=)
c.3480T= (p.Gly1160=)
n.3298T=
n.3506T=
1g.197435208_197435210delinsTTTCA1140762967CRB1c.3345_3347delinsTTT (p.Gly1115=)
c.2226_2228delinsTTT (p.Gly742=)
c.1488_1490delinsTTT (p.Gly496=)
c.3009_3011delinsTTT (p.Gly1003=)
c.3273_3275delinsTTT (p.Gly1091=)
c.2129-392_2129-390delinsTTT (n.2129-392_2129-390delinsTTT)
n.3346_3348delinsTTT
n.3554_3556delinsTTT
c.2763_2765delinsTTT (p.Gly921=)
c.1788_1790delinsTTT (p.Gly596=)
c.2502_2504delinsTTT (p.Gly834=)
c.3480_3482delinsTTT (p.Gly1160=)
n.3298_3300delinsTTT
n.3506_3508delinsTTT
1g.197435210delCA228040CRB1c.3347del (p.Phe1116SerfsTer25)
c.2228del (p.Phe743SerfsTer25)
c.1490del (p.Phe497SerfsTer25)
c.3011del (p.Phe1004SerfsTer25)
c.3275del (p.Phe1092SerfsTer25)
c.2129-390del (n.2129-390del)
n.3348del
n.3556del
c.2765del (p.Phe922SerfsTer25)
c.1790del (p.Phe597SerfsTer25)
c.2504del (p.Phe835SerfsTer25)
c.3482del (p.Phe1161SerfsTer25)
n.3300del
n.3508del
 ClinVar dbSNP
1g.197435209T>ACA344047217CRB1c.3346T>A (p.Phe1116Ile)
c.2227T>A (p.Phe743Ile)
c.1489T>A (p.Phe497Ile)
c.3010T>A (p.Phe1004Ile)
c.3274T>A (p.Phe1092Ile)
c.2129-391T>A (n.2129-391T>A)
n.3347T>A
n.3555T>A
c.2764T>A (p.Phe922Ile)
c.1789T>A (p.Phe597Ile)
c.2503T>A (p.Phe835Ile)
c.3481T>A (p.Phe1161Ile)
n.3299T>A
n.3507T>A
1g.197435209T>CCA344047215CRB1c.3346T>C (p.Phe1116Leu)
c.2227T>C (p.Phe743Leu)
c.1489T>C (p.Phe497Leu)
c.3010T>C (p.Phe1004Leu)
c.3274T>C (p.Phe1092Leu)
c.2129-391T>C (n.2129-391T>C)
n.3347T>C
n.3555T>C
c.2764T>C (p.Phe922Leu)
c.1789T>C (p.Phe597Leu)
c.2503T>C (p.Phe835Leu)
c.3481T>C (p.Phe1161Leu)
n.3299T>C
n.3507T>C
1g.197435209T>GCA344047213CRB1c.3346T>G (p.Phe1116Val)
c.2227T>G (p.Phe743Val)
c.1489T>G (p.Phe497Val)
c.3010T>G (p.Phe1004Val)
c.3274T>G (p.Phe1092Val)
c.2129-391T>G (n.2129-391T>G)
n.3347T>G
n.3555T>G
c.2764T>G (p.Phe922Val)
c.1789T>G (p.Phe597Val)
c.2503T>G (p.Phe835Val)
c.3481T>G (p.Phe1161Val)
n.3299T>G
n.3507T>G
1g.197435210T>ACA344047221CRB1c.3347T>A (p.Phe1116Tyr)
c.2228T>A (p.Phe743Tyr)
c.1490T>A (p.Phe497Tyr)
c.3011T>A (p.Phe1004Tyr)
c.3275T>A (p.Phe1092Tyr)
c.2129-390T>A (n.2129-390T>A)
n.3348T>A
n.3556T>A
c.2765T>A (p.Phe922Tyr)
c.1790T>A (p.Phe597Tyr)
c.2504T>A (p.Phe835Tyr)
c.3482T>A (p.Phe1161Tyr)
n.3300T>A
n.3508T>A
1g.197435210T>CCA344047224CRB1c.3347T>C (p.Phe1116Ser)
c.2228T>C (p.Phe743Ser)
c.1490T>C (p.Phe497Ser)
c.3011T>C (p.Phe1004Ser)
c.3275T>C (p.Phe1092Ser)
c.2129-390T>C (n.2129-390T>C)
n.3348T>C
n.3556T>C
c.2765T>C (p.Phe922Ser)
c.1790T>C (p.Phe597Ser)
c.2504T>C (p.Phe835Ser)
c.3482T>C (p.Phe1161Ser)
n.3300T>C
n.3508T>C
1g.197435210T>GCA344047222CRB1c.3347T>G (p.Phe1116Cys)
c.2228T>G (p.Phe743Cys)
c.1490T>G (p.Phe497Cys)
c.3011T>G (p.Phe1004Cys)
c.3275T>G (p.Phe1092Cys)
c.2129-390T>G (n.2129-390T>G)
n.3348T>G
n.3556T>G
c.2765T>G (p.Phe922Cys)
c.1790T>G (p.Phe597Cys)
c.2504T>G (p.Phe835Cys)
c.3482T>G (p.Phe1161Cys)
n.3300T>G
n.3508T>G
1g.197435211C>ACA344047227CRB1c.3348C>A (p.Phe1116Leu)
c.2229C>A (p.Phe743Leu)
c.1491C>A (p.Phe497Leu)
c.3012C>A (p.Phe1004Leu)
c.3276C>A (p.Phe1092Leu)
c.2129-389C>A (n.2129-389C>A)
n.3349C>A
n.3557C>A
c.2766C>A (p.Phe922Leu)
c.1791C>A (p.Phe597Leu)
c.2505C>A (p.Phe835Leu)
c.3483C>A (p.Phe1161Leu)
n.3301C>A
n.3509C>A
1g.197435211C>GCA344047229CRB1c.3348C>G (p.Phe1116Leu)
c.2229C>G (p.Phe743Leu)
c.1491C>G (p.Phe497Leu)
c.3012C>G (p.Phe1004Leu)
c.3276C>G (p.Phe1092Leu)
c.2129-389C>G (n.2129-389C>G)
n.3349C>G
n.3557C>G
c.2766C>G (p.Phe922Leu)
c.1791C>G (p.Phe597Leu)
c.2505C>G (p.Phe835Leu)
c.3483C>G (p.Phe1161Leu)
n.3301C>G
n.3509C>G
1g.197435211C>TCA422809222CRB1c.3348C>T (p.Phe1116=)
c.2229C>T (p.Phe743=)
c.1491C>T (p.Phe497=)
c.3012C>T (p.Phe1004=)
c.3276C>T (p.Phe1092=)
c.2129-389C>T (n.2129-389C>T)
n.3349C>T
n.3557C>T
c.2766C>T (p.Phe922=)
c.1791C>T (p.Phe597=)
c.2505C>T (p.Phe835=)
c.3483C>T (p.Phe1161=)
n.3301C>T
n.3509C>T
 ClinVar gnomAD v4 COSMIC
1g.197435212A=CA1218068836CRB1c.3349A= (p.Ile1117=)
c.2230A= (p.Ile744=)
c.1492A= (p.Ile498=)
c.3013A= (p.Ile1005=)
c.3277A= (p.Ile1093=)
c.2129-388A= (n.2129-388A=)
n.3350A=
n.3558A=
c.2767A= (p.Ile923=)
c.1792A= (p.Ile598=)
c.2506A= (p.Ile836=)
c.3484A= (p.Ile1162=)
n.3302A=
n.3510A=
1g.197435212A>CCA344047232CRB1c.3349A>C (p.Ile1117Leu)
c.2230A>C (p.Ile744Leu)
c.1492A>C (p.Ile498Leu)
c.3013A>C (p.Ile1005Leu)
c.3277A>C (p.Ile1093Leu)
c.2129-388A>C (n.2129-388A>C)
n.3350A>C
n.3558A>C
c.2767A>C (p.Ile923Leu)
c.1792A>C (p.Ile598Leu)
c.2506A>C (p.Ile836Leu)
c.3484A>C (p.Ile1162Leu)
n.3302A>C
n.3510A>C
1g.197435212A>GCA344047233CRB1c.3349A>G (p.Ile1117Val)
c.2230A>G (p.Ile744Val)
c.1492A>G (p.Ile498Val)
c.3013A>G (p.Ile1005Val)
c.3277A>G (p.Ile1093Val)
c.2129-388A>G (n.2129-388A>G)
n.3350A>G
n.3558A>G
c.2767A>G (p.Ile923Val)
c.1792A>G (p.Ile598Val)
c.2506A>G (p.Ile836Val)
c.3484A>G (p.Ile1162Val)
n.3302A>G
n.3510A>G
 dbSNP
1g.197435212A>TCA344047234CRB1c.3349A>T (p.Ile1117Phe)
c.2230A>T (p.Ile744Phe)
c.1492A>T (p.Ile498Phe)
c.3013A>T (p.Ile1005Phe)
c.3277A>T (p.Ile1093Phe)
c.2129-388A>T (n.2129-388A>T)
n.3350A>T
n.3558A>T
c.2767A>T (p.Ile923Phe)
c.1792A>T (p.Ile598Phe)
c.2506A>T (p.Ile836Phe)
c.3484A>T (p.Ile1162Phe)
n.3302A>T
n.3510A>T
1g.197435213T>ACA344047235CRB1c.3350T>A (p.Ile1117Asn)
c.2231T>A (p.Ile744Asn)
c.1493T>A (p.Ile498Asn)
c.3014T>A (p.Ile1005Asn)
c.3278T>A (p.Ile1093Asn)
c.2129-387T>A (n.2129-387T>A)
n.3351T>A
n.3559T>A
c.2768T>A (p.Ile923Asn)
c.1793T>A (p.Ile598Asn)
c.2507T>A (p.Ile836Asn)
c.3485T>A (p.Ile1162Asn)
n.3303T>A
n.3511T>A
1g.197435213T>CCA344047236CRB1c.3350T>C (p.Ile1117Thr)
c.2231T>C (p.Ile744Thr)
c.1493T>C (p.Ile498Thr)
c.3014T>C (p.Ile1005Thr)
c.3278T>C (p.Ile1093Thr)
c.2129-387T>C (n.2129-387T>C)
n.3351T>C
n.3559T>C
c.2768T>C (p.Ile923Thr)
c.1793T>C (p.Ile598Thr)
c.2507T>C (p.Ile836Thr)
c.3485T>C (p.Ile1162Thr)
n.3303T>C
n.3511T>C
1g.197435213T>GCA344047237CRB1c.3350T>G (p.Ile1117Ser)
c.2231T>G (p.Ile744Ser)
c.1493T>G (p.Ile498Ser)
c.3014T>G (p.Ile1005Ser)
c.3278T>G (p.Ile1093Ser)
c.2129-387T>G (n.2129-387T>G)
n.3351T>G
n.3559T>G
c.2768T>G (p.Ile923Ser)
c.1793T>G (p.Ile598Ser)
c.2507T>G (p.Ile836Ser)
c.3485T>G (p.Ile1162Ser)
n.3303T>G
n.3511T>G
1g.197435214T>ACA422809227CRB1c.3351T>A (p.Ile1117=)
c.2232T>A (p.Ile744=)
c.1494T>A (p.Ile498=)
c.3015T>A (p.Ile1005=)
c.3279T>A (p.Ile1093=)
c.2129-386T>A (n.2129-386T>A)
n.3352T>A
n.3560T>A
c.2769T>A (p.Ile923=)
c.1794T>A (p.Ile598=)
c.2508T>A (p.Ile836=)
c.3486T>A (p.Ile1162=)
n.3304T>A
n.3512T>A
1g.197435214T>CCA422809228CRB1c.3351T>C (p.Ile1117=)
c.2232T>C (p.Ile744=)
c.1494T>C (p.Ile498=)
c.3015T>C (p.Ile1005=)
c.3279T>C (p.Ile1093=)
c.2129-386T>C (n.2129-386T>C)
n.3352T>C
n.3560T>C
c.2769T>C (p.Ile923=)
c.1794T>C (p.Ile598=)
c.2508T>C (p.Ile836=)
c.3486T>C (p.Ile1162=)
n.3304T>C
n.3512T>C
1g.197435214T>GCA344047238CRB1c.3351T>G (p.Ile1117Met)
c.2232T>G (p.Ile744Met)
c.1494T>G (p.Ile498Met)
c.3015T>G (p.Ile1005Met)
c.3279T>G (p.Ile1093Met)
c.2129-386T>G (n.2129-386T>G)
n.3352T>G
n.3560T>G
c.2769T>G (p.Ile923Met)
c.1794T>G (p.Ile598Met)
c.2508T>G (p.Ile836Met)
c.3486T>G (p.Ile1162Met)
n.3304T>G
n.3512T>G
1g.197435215A>CCA344047240CRB1c.3352A>C (p.Asn1118His)
c.2233A>C (p.Asn745His)
c.1495A>C (p.Asn499His)
c.3016A>C (p.Asn1006His)
c.3280A>C (p.Asn1094His)
c.2129-385A>C (n.2129-385A>C)
n.3353A>C
n.3561A>C
c.2770A>C (p.Asn924His)
c.1795A>C (p.Asn599His)
c.2509A>C (p.Asn837His)
c.3487A>C (p.Asn1163His)
n.3305A>C
n.3513A>C
1g.197435215A>GCA344047243CRB1c.3352A>G (p.Asn1118Asp)
c.2233A>G (p.Asn745Asp)
c.1495A>G (p.Asn499Asp)
c.3016A>G (p.Asn1006Asp)
c.3280A>G (p.Asn1094Asp)
c.2129-385A>G (n.2129-385A>G)
n.3353A>G
n.3561A>G
c.2770A>G (p.Asn924Asp)
c.1795A>G (p.Asn599Asp)
c.2509A>G (p.Asn837Asp)
c.3487A>G (p.Asn1163Asp)
n.3305A>G
n.3513A>G
1g.197435215A>TCA344047245CRB1c.3352A>T (p.Asn1118Tyr)
c.2233A>T (p.Asn745Tyr)
c.1495A>T (p.Asn499Tyr)
c.3016A>T (p.Asn1006Tyr)
c.3280A>T (p.Asn1094Tyr)
c.2129-385A>T (n.2129-385A>T)
n.3353A>T
n.3561A>T
c.2770A>T (p.Asn924Tyr)
c.1795A>T (p.Asn599Tyr)
c.2509A>T (p.Asn837Tyr)
c.3487A>T (p.Asn1163Tyr)
n.3305A>T
n.3513A>T
1g.197435216A>CCA344047251CRB1c.3353A>C (p.Asn1118Thr)
c.2234A>C (p.Asn745Thr)
c.1496A>C (p.Asn499Thr)
c.3017A>C (p.Asn1006Thr)
c.3281A>C (p.Asn1094Thr)
c.2129-384A>C (n.2129-384A>C)
n.3354A>C
n.3562A>C
c.2771A>C (p.Asn924Thr)
c.1796A>C (p.Asn599Thr)
c.2510A>C (p.Asn837Thr)
c.3488A>C (p.Asn1163Thr)
n.3306A>C
n.3514A>C
1g.197435216A>GCA344047248CRB1c.3353A>G (p.Asn1118Ser)
c.2234A>G (p.Asn745Ser)
c.1496A>G (p.Asn499Ser)
c.3017A>G (p.Asn1006Ser)
c.3281A>G (p.Asn1094Ser)
c.2129-384A>G (n.2129-384A>G)
n.3354A>G
n.3562A>G
c.2771A>G (p.Asn924Ser)
c.1796A>G (p.Asn599Ser)
c.2510A>G (p.Asn837Ser)
c.3488A>G (p.Asn1163Ser)
n.3306A>G
n.3514A>G
1g.197435216A>TCA344047249CRB1c.3353A>T (p.Asn1118Ile)
c.2234A>T (p.Asn745Ile)
c.1496A>T (p.Asn499Ile)
c.3017A>T (p.Asn1006Ile)
c.3281A>T (p.Asn1094Ile)
c.2129-384A>T (n.2129-384A>T)
n.3354A>T
n.3562A>T
c.2771A>T (p.Asn924Ile)
c.1796A>T (p.Asn599Ile)
c.2510A>T (p.Asn837Ile)
c.3488A>T (p.Asn1163Ile)
n.3306A>T
n.3514A>T
1g.197435217T>ACA344047256CRB1c.3354T>A (p.Asn1118Lys)
c.2235T>A (p.Asn745Lys)
c.1497T>A (p.Asn499Lys)
c.3018T>A (p.Asn1006Lys)
c.3282T>A (p.Asn1094Lys)
c.2129-383T>A (n.2129-383T>A)
n.3355T>A
n.3563T>A
c.2772T>A (p.Asn924Lys)
c.1797T>A (p.Asn599Lys)
c.2511T>A (p.Asn837Lys)
c.3489T>A (p.Asn1163Lys)
n.3307T>A
n.3515T>A
 gnomAD v4
1g.197435217T>CCA422809234CRB1c.3354T>C (p.Asn1118=)
c.2235T>C (p.Asn745=)
c.1497T>C (p.Asn499=)
c.3018T>C (p.Asn1006=)
c.3282T>C (p.Asn1094=)
c.2129-383T>C (n.2129-383T>C)
n.3355T>C
n.3563T>C
c.2772T>C (p.Asn924=)
c.1797T>C (p.Asn599=)
c.2511T>C (p.Asn837=)
c.3489T>C (p.Asn1163=)
n.3307T>C
n.3515T>C
 gnomAD v4
1g.197435217T>GCA344047260CRB1c.3354T>G (p.Asn1118Lys)
c.2235T>G (p.Asn745Lys)
c.1497T>G (p.Asn499Lys)
c.3018T>G (p.Asn1006Lys)
c.3282T>G (p.Asn1094Lys)
c.2129-383T>G (n.2129-383T>G)
n.3355T>G
n.3563T>G
c.2772T>G (p.Asn924Lys)
c.1797T>G (p.Asn599Lys)
c.2511T>G (p.Asn837Lys)
c.3489T>G (p.Asn1163Lys)
n.3307T>G
n.3515T>G

Number of alleles fetched