Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197434845_197434927dupCA2740090447CRB1c.2982_3064dup (p.Ser1022LysfsTer28)
c.1863_1945dup (p.Ser649LysfsTer28)
c.1125_1207dup (p.Ser403LysfsTer28)
c.2646_2728dup (p.Ser910LysfsTer28)
c.2910_2992dup (p.Ser998LysfsTer28)
c.2129-755_2129-673dup (n.2129-755_2129-673dup)
n.2983_3065dup
n.3191_3273dup
c.2400_2482dup (p.Ser828LysfsTer28)
c.1425_1507dup (p.Ser503LysfsTer28)
c.2139_2221dup (p.Ser741LysfsTer28)
c.3117_3199dup (p.Ser1067LysfsTer28)
n.2935_3017dup
n.3143_3225dup
 ClinVar
1g.197434848G>ACA422672582CRB1c.2985G>A (p.Glu995=)
c.1866G>A (p.Glu622=)
c.1128G>A (p.Glu376=)
c.2649G>A (p.Glu883=)
c.2913G>A (p.Glu971=)
c.2129-752G>A (n.2129-752G>A)
n.2986G>A
n.3194G>A
c.2403G>A (p.Glu801=)
c.1428G>A (p.Glu476=)
c.2142G>A (p.Glu714=)
c.3120G>A (p.Glu1040=)
n.2938G>A
n.3146G>A
 gnomAD v4
1g.197434848G>CCA344044312CRB1c.2985G>C (p.Glu995Asp)
c.1866G>C (p.Glu622Asp)
c.1128G>C (p.Glu376Asp)
c.2649G>C (p.Glu883Asp)
c.2913G>C (p.Glu971Asp)
c.2129-752G>C (n.2129-752G>C)
n.2986G>C
n.3194G>C
c.2403G>C (p.Glu801Asp)
c.1428G>C (p.Glu476Asp)
c.2142G>C (p.Glu714Asp)
c.3120G>C (p.Glu1040Asp)
n.2938G>C
n.3146G>C
1g.197434848G=CA1148563041CRB1c.2985G= (p.Glu995=)
c.1866G= (p.Glu622=)
c.1128G= (p.Glu376=)
c.2649G= (p.Glu883=)
c.2913G= (p.Glu971=)
c.2129-752G= (n.2129-752G=)
n.2986G=
n.3194G=
c.2403G= (p.Glu801=)
c.1428G= (p.Glu476=)
c.2142G= (p.Glu714=)
c.3120G= (p.Glu1040=)
n.2938G=
n.3146G=
1g.197434848G>TCA1312258CRB1c.2985G>T (p.Glu995Asp)
c.1866G>T (p.Glu622Asp)
c.1128G>T (p.Glu376Asp)
c.2649G>T (p.Glu883Asp)
c.2913G>T (p.Glu971Asp)
c.2129-752G>T (n.2129-752G>T)
n.2986G>T
n.3194G>T
c.2403G>T (p.Glu801Asp)
c.1428G>T (p.Glu476Asp)
c.2142G>T (p.Glu714Asp)
c.3120G>T (p.Glu1040Asp)
n.2938G>T
n.3146G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434849C>ACA344044315CRB1c.2986C>A (p.Pro996Thr)
c.1867C>A (p.Pro623Thr)
c.1129C>A (p.Pro377Thr)
c.2650C>A (p.Pro884Thr)
c.2914C>A (p.Pro972Thr)
c.2129-751C>A (n.2129-751C>A)
n.2987C>A
n.3195C>A
c.2404C>A (p.Pro802Thr)
c.1429C>A (p.Pro477Thr)
c.2143C>A (p.Pro715Thr)
c.3121C>A (p.Pro1041Thr)
n.2939C>A
n.3147C>A
 gnomAD v4
1g.197434849C>GCA344044317CRB1c.2986C>G (p.Pro996Ala)
c.1867C>G (p.Pro623Ala)
c.1129C>G (p.Pro377Ala)
c.2650C>G (p.Pro884Ala)
c.2914C>G (p.Pro972Ala)
c.2129-751C>G (n.2129-751C>G)
n.2987C>G
n.3195C>G
c.2404C>G (p.Pro802Ala)
c.1429C>G (p.Pro477Ala)
c.2143C>G (p.Pro715Ala)
c.3121C>G (p.Pro1041Ala)
n.2939C>G
n.3147C>G
 gnomAD v4
1g.197434849C>TCA344044320CRB1c.2986C>T (p.Pro996Ser)
c.1867C>T (p.Pro623Ser)
c.1129C>T (p.Pro377Ser)
c.2650C>T (p.Pro884Ser)
c.2914C>T (p.Pro972Ser)
c.2129-751C>T (n.2129-751C>T)
n.2987C>T
n.3195C>T
c.2404C>T (p.Pro802Ser)
c.1429C>T (p.Pro477Ser)
c.2143C>T (p.Pro715Ser)
c.3121C>T (p.Pro1041Ser)
n.2939C>T
n.3147C>T
1g.197434849_197434850insATTTGCAATACCA1218068691CRB1c.2986_2987insATTTGCAATAC (p.Pro996HisfsTer30)
c.1867_1868insATTTGCAATAC (p.Pro623HisfsTer30)
c.1129_1130insATTTGCAATAC (p.Pro377HisfsTer30)
c.2650_2651insATTTGCAATAC (p.Pro884HisfsTer30)
c.2914_2915insATTTGCAATAC (p.Pro972HisfsTer30)
c.2129-751_2129-750insATTTGCAATAC (n.2129-751_2129-750insATTTGCAATAC)
n.2987_2988insATTTGCAATAC
n.3195_3196insATTTGCAATAC
c.2404_2405insATTTGCAATAC (p.Pro802HisfsTer30)
c.1429_1430insATTTGCAATAC (p.Pro477HisfsTer30)
c.2143_2144insATTTGCAATAC (p.Pro715HisfsTer30)
c.3121_3122insATTTGCAATAC (p.Pro1041HisfsTer30)
n.2939_2940insATTTGCAATAC
n.3147_3148insATTTGCAATAC
 dbSNP
1g.197434850C>ACA344044326CRB1c.2987C>A (p.Pro996His)
c.1868C>A (p.Pro623His)
c.1130C>A (p.Pro377His)
c.2651C>A (p.Pro884His)
c.2915C>A (p.Pro972His)
c.2129-750C>A (n.2129-750C>A)
n.2988C>A
n.3196C>A
c.2405C>A (p.Pro802His)
c.1430C>A (p.Pro477His)
c.2144C>A (p.Pro715His)
c.3122C>A (p.Pro1041His)
n.2940C>A
n.3148C>A
1g.197434850C>GCA344044327CRB1c.2987C>G (p.Pro996Arg)
c.1868C>G (p.Pro623Arg)
c.1130C>G (p.Pro377Arg)
c.2651C>G (p.Pro884Arg)
c.2915C>G (p.Pro972Arg)
c.2129-750C>G (n.2129-750C>G)
n.2988C>G
n.3196C>G
c.2405C>G (p.Pro802Arg)
c.1430C>G (p.Pro477Arg)
c.2144C>G (p.Pro715Arg)
c.3122C>G (p.Pro1041Arg)
n.2940C>G
n.3148C>G
1g.197434850C>TCA344044328CRB1c.2987C>T (p.Pro996Leu)
c.1868C>T (p.Pro623Leu)
c.1130C>T (p.Pro377Leu)
c.2651C>T (p.Pro884Leu)
c.2915C>T (p.Pro972Leu)
c.2129-750C>T (n.2129-750C>T)
n.2988C>T
n.3196C>T
c.2405C>T (p.Pro802Leu)
c.1430C>T (p.Pro477Leu)
c.2144C>T (p.Pro715Leu)
c.3122C>T (p.Pro1041Leu)
n.2940C>T
n.3148C>T
1g.197434851T>ACA422672585CRB1c.2988T>A (p.Pro996=)
c.1869T>A (p.Pro623=)
c.1131T>A (p.Pro377=)
c.2652T>A (p.Pro884=)
c.2916T>A (p.Pro972=)
c.2129-749T>A (n.2129-749T>A)
n.2989T>A
n.3197T>A
c.2406T>A (p.Pro802=)
c.1431T>A (p.Pro477=)
c.2145T>A (p.Pro715=)
c.3123T>A (p.Pro1041=)
n.2941T>A
n.3149T>A
1g.197434851T>CCA422672586CRB1c.2988T>C (p.Pro996=)
c.1869T>C (p.Pro623=)
c.1131T>C (p.Pro377=)
c.2652T>C (p.Pro884=)
c.2916T>C (p.Pro972=)
c.2129-749T>C (n.2129-749T>C)
n.2989T>C
n.3197T>C
c.2406T>C (p.Pro802=)
c.1431T>C (p.Pro477=)
c.2145T>C (p.Pro715=)
c.3123T>C (p.Pro1041=)
n.2941T>C
n.3149T>C
1g.197434851T>GCA422672587CRB1c.2988T>G (p.Pro996=)
c.1869T>G (p.Pro623=)
c.1131T>G (p.Pro377=)
c.2652T>G (p.Pro884=)
c.2916T>G (p.Pro972=)
c.2129-749T>G (n.2129-749T>G)
n.2989T>G
n.3197T>G
c.2406T>G (p.Pro802=)
c.1431T>G (p.Pro477=)
c.2145T>G (p.Pro715=)
c.3123T>G (p.Pro1041=)
n.2941T>G
n.3149T>G
1g.197434851T=CA1218068692CRB1c.2988T= (p.Pro996=)
c.1869T= (p.Pro623=)
c.1131T= (p.Pro377=)
c.2652T= (p.Pro884=)
c.2916T= (p.Pro972=)
c.2129-749T= (n.2129-749T=)
n.2989T=
n.3197T=
c.2406T= (p.Pro802=)
c.1431T= (p.Pro477=)
c.2145T= (p.Pro715=)
c.3123T= (p.Pro1041=)
n.2941T=
n.3149T=
1g.197434851_197434852insAATGACA1218068693CRB1c.2988_2989insAATGA (p.Glu997AsnfsTer27)
c.1869_1870insAATGA (p.Glu624AsnfsTer27)
c.1131_1132insAATGA (p.Glu378AsnfsTer27)
c.2652_2653insAATGA (p.Glu885AsnfsTer27)
c.2916_2917insAATGA (p.Glu973AsnfsTer27)
c.2129-749_2129-748insAATGA (n.2129-749_2129-748insAATGA)
n.2989_2990insAATGA
n.3197_3198insAATGA
c.2406_2407insAATGA (p.Glu803AsnfsTer27)
c.1431_1432insAATGA (p.Glu478AsnfsTer27)
c.2145_2146insAATGA (p.Glu716AsnfsTer27)
c.3123_3124insAATGA (p.Glu1042AsnfsTer27)
n.2941_2942insAATGA
n.3149_3150insAATGA
 dbSNP
1g.197434852G>ACA344044331CRB1c.2989G>A (p.Glu997Lys)
c.1870G>A (p.Glu624Lys)
c.1132G>A (p.Glu378Lys)
c.2653G>A (p.Glu885Lys)
c.2917G>A (p.Glu973Lys)
c.2129-748G>A (n.2129-748G>A)
n.2990G>A
n.3198G>A
c.2407G>A (p.Glu803Lys)
c.1432G>A (p.Glu478Lys)
c.2146G>A (p.Glu716Lys)
c.3124G>A (p.Glu1042Lys)
n.2942G>A
n.3150G>A
1g.197434852G>CCA344044329CRB1c.2989G>C (p.Glu997Gln)
c.1870G>C (p.Glu624Gln)
c.1132G>C (p.Glu378Gln)
c.2653G>C (p.Glu885Gln)
c.2917G>C (p.Glu973Gln)
c.2129-748G>C (n.2129-748G>C)
n.2990G>C
n.3198G>C
c.2407G>C (p.Glu803Gln)
c.1432G>C (p.Glu478Gln)
c.2146G>C (p.Glu716Gln)
c.3124G>C (p.Glu1042Gln)
n.2942G>C
n.3150G>C
1g.197434852G>TCA344044330CRB1c.2989G>T (p.Glu997Ter)
c.1870G>T (p.Glu624Ter)
c.1132G>T (p.Glu378Ter)
c.2653G>T (p.Glu885Ter)
c.2917G>T (p.Glu973Ter)
c.2129-748G>T (n.2129-748G>T)
n.2990G>T
n.3198G>T
c.2407G>T (p.Glu803Ter)
c.1432G>T (p.Glu478Ter)
c.2146G>T (p.Glu716Ter)
c.3124G>T (p.Glu1042Ter)
n.2942G>T
n.3150G>T
 gnomAD v4
1g.197434853A>CCA344044332CRB1c.2990A>C (p.Glu997Ala)
c.1871A>C (p.Glu624Ala)
c.1133A>C (p.Glu378Ala)
c.2654A>C (p.Glu885Ala)
c.2918A>C (p.Glu973Ala)
c.2129-747A>C (n.2129-747A>C)
n.2991A>C
n.3199A>C
c.2408A>C (p.Glu803Ala)
c.1433A>C (p.Glu478Ala)
c.2147A>C (p.Glu716Ala)
c.3125A>C (p.Glu1042Ala)
n.2943A>C
n.3151A>C
1g.197434853A>GCA344044333CRB1c.2990A>G (p.Glu997Gly)
c.1871A>G (p.Glu624Gly)
c.1133A>G (p.Glu378Gly)
c.2654A>G (p.Glu885Gly)
c.2918A>G (p.Glu973Gly)
c.2129-747A>G (n.2129-747A>G)
n.2991A>G
n.3199A>G
c.2408A>G (p.Glu803Gly)
c.1433A>G (p.Glu478Gly)
c.2147A>G (p.Glu716Gly)
c.3125A>G (p.Glu1042Gly)
n.2943A>G
n.3151A>G
1g.197434853A>TCA344044334CRB1c.2990A>T (p.Glu997Val)
c.1871A>T (p.Glu624Val)
c.1133A>T (p.Glu378Val)
c.2654A>T (p.Glu885Val)
c.2918A>T (p.Glu973Val)
c.2129-747A>T (n.2129-747A>T)
n.2991A>T
n.3199A>T
c.2408A>T (p.Glu803Val)
c.1433A>T (p.Glu478Val)
c.2147A>T (p.Glu716Val)
c.3125A>T (p.Glu1042Val)
n.2943A>T
n.3151A>T
1g.197434854A>CCA344044337CRB1c.2991A>C (p.Glu997Asp)
c.1872A>C (p.Glu624Asp)
c.1134A>C (p.Glu378Asp)
c.2655A>C (p.Glu885Asp)
c.2919A>C (p.Glu973Asp)
c.2129-746A>C (n.2129-746A>C)
n.2992A>C
n.3200A>C
c.2409A>C (p.Glu803Asp)
c.1434A>C (p.Glu478Asp)
c.2148A>C (p.Glu716Asp)
c.3126A>C (p.Glu1042Asp)
n.2944A>C
n.3152A>C
1g.197434854A>GCA422672589CRB1c.2991A>G (p.Glu997=)
c.1872A>G (p.Glu624=)
c.1134A>G (p.Glu378=)
c.2655A>G (p.Glu885=)
c.2919A>G (p.Glu973=)
c.2129-746A>G (n.2129-746A>G)
n.2992A>G
n.3200A>G
c.2409A>G (p.Glu803=)
c.1434A>G (p.Glu478=)
c.2148A>G (p.Glu716=)
c.3126A>G (p.Glu1042=)
n.2944A>G
n.3152A>G
1g.197434854A>TCA344044341CRB1c.2991A>T (p.Glu997Asp)
c.1872A>T (p.Glu624Asp)
c.1134A>T (p.Glu378Asp)
c.2655A>T (p.Glu885Asp)
c.2919A>T (p.Glu973Asp)
c.2129-746A>T (n.2129-746A>T)
n.2992A>T
n.3200A>T
c.2409A>T (p.Glu803Asp)
c.1434A>T (p.Glu478Asp)
c.2148A>T (p.Glu716Asp)
c.3126A>T (p.Glu1042Asp)
n.2944A>T
n.3152A>T
1g.197434855T>ACA344044346CRB1c.2992T>A (p.Phe998Ile)
c.1873T>A (p.Phe625Ile)
c.1135T>A (p.Phe379Ile)
c.2656T>A (p.Phe886Ile)
c.2920T>A (p.Phe974Ile)
c.2129-745T>A (n.2129-745T>A)
n.2993T>A
n.3201T>A
c.2410T>A (p.Phe804Ile)
c.1435T>A (p.Phe479Ile)
c.2149T>A (p.Phe717Ile)
c.3127T>A (p.Phe1043Ile)
n.2945T>A
n.3153T>A
1g.197434855T>CCA344044356CRB1c.2992T>C (p.Phe998Leu)
c.1873T>C (p.Phe625Leu)
c.1135T>C (p.Phe379Leu)
c.2656T>C (p.Phe886Leu)
c.2920T>C (p.Phe974Leu)
c.2129-745T>C (n.2129-745T>C)
n.2993T>C
n.3201T>C
c.2410T>C (p.Phe804Leu)
c.1435T>C (p.Phe479Leu)
c.2149T>C (p.Phe717Leu)
c.3127T>C (p.Phe1043Leu)
n.2945T>C
n.3153T>C
 dbSNP
1g.197434855T>GCA344044353CRB1c.2992T>G (p.Phe998Val)
c.1873T>G (p.Phe625Val)
c.1135T>G (p.Phe379Val)
c.2656T>G (p.Phe886Val)
c.2920T>G (p.Phe974Val)
c.2129-745T>G (n.2129-745T>G)
n.2993T>G
n.3201T>G
c.2410T>G (p.Phe804Val)
c.1435T>G (p.Phe479Val)
c.2149T>G (p.Phe717Val)
c.3127T>G (p.Phe1043Val)
n.2945T>G
n.3153T>G
 dbSNP
1g.197434855T=CA1218068694CRB1c.2992T= (p.Phe998=)
c.1873T= (p.Phe625=)
c.1135T= (p.Phe379=)
c.2656T= (p.Phe886=)
c.2920T= (p.Phe974=)
c.2129-745T= (n.2129-745T=)
n.2993T=
n.3201T=
c.2410T= (p.Phe804=)
c.1435T= (p.Phe479=)
c.2149T= (p.Phe717=)
c.3127T= (p.Phe1043=)
n.2945T=
n.3153T=
1g.197434856T>ACA344044358CRB1c.2993T>A (p.Phe998Tyr)
c.1874T>A (p.Phe625Tyr)
c.1136T>A (p.Phe379Tyr)
c.2657T>A (p.Phe886Tyr)
c.2921T>A (p.Phe974Tyr)
c.2129-744T>A (n.2129-744T>A)
n.2994T>A
n.3202T>A
c.2411T>A (p.Phe804Tyr)
c.1436T>A (p.Phe479Tyr)
c.2150T>A (p.Phe717Tyr)
c.3128T>A (p.Phe1043Tyr)
n.2946T>A
n.3154T>A
1g.197434856T>CCA344044359CRB1c.2993T>C (p.Phe998Ser)
c.1874T>C (p.Phe625Ser)
c.1136T>C (p.Phe379Ser)
c.2657T>C (p.Phe886Ser)
c.2921T>C (p.Phe974Ser)
c.2129-744T>C (n.2129-744T>C)
n.2994T>C
n.3202T>C
c.2411T>C (p.Phe804Ser)
c.1436T>C (p.Phe479Ser)
c.2150T>C (p.Phe717Ser)
c.3128T>C (p.Phe1043Ser)
n.2946T>C
n.3154T>C
1g.197434856T>GCA344044360CRB1c.2993T>G (p.Phe998Cys)
c.1874T>G (p.Phe625Cys)
c.1136T>G (p.Phe379Cys)
c.2657T>G (p.Phe886Cys)
c.2921T>G (p.Phe974Cys)
c.2129-744T>G (n.2129-744T>G)
n.2994T>G
n.3202T>G
c.2411T>G (p.Phe804Cys)
c.1436T>G (p.Phe479Cys)
c.2150T>G (p.Phe717Cys)
c.3128T>G (p.Phe1043Cys)
n.2946T>G
n.3154T>G
 dbSNP gnomAD v2
1g.197434856T=CA1218068695CRB1c.2993T= (p.Phe998=)
c.1874T= (p.Phe625=)
c.1136T= (p.Phe379=)
c.2657T= (p.Phe886=)
c.2921T= (p.Phe974=)
c.2129-744T= (n.2129-744T=)
n.2994T=
n.3202T=
c.2411T= (p.Phe804=)
c.1436T= (p.Phe479=)
c.2150T= (p.Phe717=)
c.3128T= (p.Phe1043=)
n.2946T=
n.3154T=
1g.197434857T>ACA344044364CRB1c.2994T>A (p.Phe998Leu)
c.1875T>A (p.Phe625Leu)
c.1137T>A (p.Phe379Leu)
c.2658T>A (p.Phe886Leu)
c.2922T>A (p.Phe974Leu)
c.2129-743T>A (n.2129-743T>A)
n.2995T>A
n.3203T>A
c.2412T>A (p.Phe804Leu)
c.1437T>A (p.Phe479Leu)
c.2151T>A (p.Phe717Leu)
c.3129T>A (p.Phe1043Leu)
n.2947T>A
n.3155T>A
1g.197434857T>CCA422672592CRB1c.2994T>C (p.Phe998=)
c.1875T>C (p.Phe625=)
c.1137T>C (p.Phe379=)
c.2658T>C (p.Phe886=)
c.2922T>C (p.Phe974=)
c.2129-743T>C (n.2129-743T>C)
n.2995T>C
n.3203T>C
c.2412T>C (p.Phe804=)
c.1437T>C (p.Phe479=)
c.2151T>C (p.Phe717=)
c.3129T>C (p.Phe1043=)
n.2947T>C
n.3155T>C
1g.197434857T>GCA344044366CRB1c.2994T>G (p.Phe998Leu)
c.1875T>G (p.Phe625Leu)
c.1137T>G (p.Phe379Leu)
c.2658T>G (p.Phe886Leu)
c.2922T>G (p.Phe974Leu)
c.2129-743T>G (n.2129-743T>G)
n.2995T>G
n.3203T>G
c.2412T>G (p.Phe804Leu)
c.1437T>G (p.Phe479Leu)
c.2151T>G (p.Phe717Leu)
c.3129T>G (p.Phe1043Leu)
n.2947T>G
n.3155T>G
1g.197434858C>ACA344044369CRB1c.2995C>A (p.Leu999Ile)
c.1876C>A (p.Leu626Ile)
c.1138C>A (p.Leu380Ile)
c.2659C>A (p.Leu887Ile)
c.2923C>A (p.Leu975Ile)
c.2129-742C>A (n.2129-742C>A)
n.2996C>A
n.3204C>A
c.2413C>A (p.Leu805Ile)
c.1438C>A (p.Leu480Ile)
c.2152C>A (p.Leu718Ile)
c.3130C>A (p.Leu1044Ile)
n.2948C>A
n.3156C>A
1g.197434858C=CA1218068696CRB1c.2995C= (p.Leu999=)
c.1876C= (p.Leu626=)
c.1138C= (p.Leu380=)
c.2659C= (p.Leu887=)
c.2923C= (p.Leu975=)
c.2129-742C= (n.2129-742C=)
n.2996C=
n.3204C=
c.2413C= (p.Leu805=)
c.1438C= (p.Leu480=)
c.2152C= (p.Leu718=)
c.3130C= (p.Leu1044=)
n.2948C=
n.3156C=
1g.197434858C>GCA344044371CRB1c.2995C>G (p.Leu999Val)
c.1876C>G (p.Leu626Val)
c.1138C>G (p.Leu380Val)
c.2659C>G (p.Leu887Val)
c.2923C>G (p.Leu975Val)
c.2129-742C>G (n.2129-742C>G)
n.2996C>G
n.3204C>G
c.2413C>G (p.Leu805Val)
c.1438C>G (p.Leu480Val)
c.2152C>G (p.Leu718Val)
c.3130C>G (p.Leu1044Val)
n.2948C>G
n.3156C>G
1g.197434858C>TCA35906752CRB1c.2995C>T (p.Leu999Phe)
c.1876C>T (p.Leu626Phe)
c.1138C>T (p.Leu380Phe)
c.2659C>T (p.Leu887Phe)
c.2923C>T (p.Leu975Phe)
c.2129-742C>T (n.2129-742C>T)
n.2996C>T
n.3204C>T
c.2413C>T (p.Leu805Phe)
c.1438C>T (p.Leu480Phe)
c.2152C>T (p.Leu718Phe)
c.3130C>T (p.Leu1044Phe)
n.2948C>T
n.3156C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197434859T>ACA344044378CRB1c.2996T>A (p.Leu999His)
c.1877T>A (p.Leu626His)
c.1139T>A (p.Leu380His)
c.2660T>A (p.Leu887His)
c.2924T>A (p.Leu975His)
c.2129-741T>A (n.2129-741T>A)
n.2997T>A
n.3205T>A
c.2414T>A (p.Leu805His)
c.1439T>A (p.Leu480His)
c.2153T>A (p.Leu718His)
c.3131T>A (p.Leu1044His)
n.2949T>A
n.3157T>A
1g.197434859T>CCA344044380CRB1c.2996T>C (p.Leu999Pro)
c.1877T>C (p.Leu626Pro)
c.1139T>C (p.Leu380Pro)
c.2660T>C (p.Leu887Pro)
c.2924T>C (p.Leu975Pro)
c.2129-741T>C (n.2129-741T>C)
n.2997T>C
n.3205T>C
c.2414T>C (p.Leu805Pro)
c.1439T>C (p.Leu480Pro)
c.2153T>C (p.Leu718Pro)
c.3131T>C (p.Leu1044Pro)
n.2949T>C
n.3157T>C
1g.197434859T>GCA1312259CRB1c.2996T>G (p.Leu999Arg)
c.1877T>G (p.Leu626Arg)
c.1139T>G (p.Leu380Arg)
c.2660T>G (p.Leu887Arg)
c.2924T>G (p.Leu975Arg)
c.2129-741T>G (n.2129-741T>G)
n.2997T>G
n.3205T>G
c.2414T>G (p.Leu805Arg)
c.1439T>G (p.Leu480Arg)
c.2153T>G (p.Leu718Arg)
c.3131T>G (p.Leu1044Arg)
n.2949T>G
n.3157T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434859T=CA1218068697CRB1c.2996T= (p.Leu999=)
c.1877T= (p.Leu626=)
c.1139T= (p.Leu380=)
c.2660T= (p.Leu887=)
c.2924T= (p.Leu975=)
c.2129-741T= (n.2129-741T=)
n.2997T=
n.3205T=
c.2414T= (p.Leu805=)
c.1439T= (p.Leu480=)
c.2153T= (p.Leu718=)
c.3131T= (p.Leu1044=)
n.2949T=
n.3157T=
1g.197434860T>ACA422672595CRB1c.2997T>A (p.Leu999=)
c.1878T>A (p.Leu626=)
c.1140T>A (p.Leu380=)
c.2661T>A (p.Leu887=)
c.2925T>A (p.Leu975=)
c.2129-740T>A (n.2129-740T>A)
n.2998T>A
n.3206T>A
c.2415T>A (p.Leu805=)
c.1440T>A (p.Leu480=)
c.2154T>A (p.Leu718=)
c.3132T>A (p.Leu1044=)
n.2950T>A
n.3158T>A
1g.197434860T>CCA422672596CRB1c.2997T>C (p.Leu999=)
c.1878T>C (p.Leu626=)
c.1140T>C (p.Leu380=)
c.2661T>C (p.Leu887=)
c.2925T>C (p.Leu975=)
c.2129-740T>C (n.2129-740T>C)
n.2998T>C
n.3206T>C
c.2415T>C (p.Leu805=)
c.1440T>C (p.Leu480=)
c.2154T>C (p.Leu718=)
c.3132T>C (p.Leu1044=)
n.2950T>C
n.3158T>C
1g.197434860T>GCA422672597CRB1c.2997T>G (p.Leu999=)
c.1878T>G (p.Leu626=)
c.1140T>G (p.Leu380=)
c.2661T>G (p.Leu887=)
c.2925T>G (p.Leu975=)
c.2129-740T>G (n.2129-740T>G)
n.2998T>G
n.3206T>G
c.2415T>G (p.Leu805=)
c.1440T>G (p.Leu480=)
c.2154T>G (p.Leu718=)
c.3132T>G (p.Leu1044=)
n.2950T>G
n.3158T>G
1g.197434861A>CCA344044394CRB1c.2998A>C (p.Asn1000His)
c.1879A>C (p.Asn627His)
c.1141A>C (p.Asn381His)
c.2662A>C (p.Asn888His)
c.2926A>C (p.Asn976His)
c.2129-739A>C (n.2129-739A>C)
n.2999A>C
n.3207A>C
c.2416A>C (p.Asn806His)
c.1441A>C (p.Asn481His)
c.2155A>C (p.Asn719His)
c.3133A>C (p.Asn1045His)
n.2951A>C
n.3159A>C
1g.197434861A>GCA344044393CRB1c.2998A>G (p.Asn1000Asp)
c.1879A>G (p.Asn627Asp)
c.1141A>G (p.Asn381Asp)
c.2662A>G (p.Asn888Asp)
c.2926A>G (p.Asn976Asp)
c.2129-739A>G (n.2129-739A>G)
n.2999A>G
n.3207A>G
c.2416A>G (p.Asn806Asp)
c.1441A>G (p.Asn481Asp)
c.2155A>G (p.Asn719Asp)
c.3133A>G (p.Asn1045Asp)
n.2951A>G
n.3159A>G
1g.197434861A>TCA344044391CRB1c.2998A>T (p.Asn1000Tyr)
c.1879A>T (p.Asn627Tyr)
c.1141A>T (p.Asn381Tyr)
c.2662A>T (p.Asn888Tyr)
c.2926A>T (p.Asn976Tyr)
c.2129-739A>T (n.2129-739A>T)
n.2999A>T
n.3207A>T
c.2416A>T (p.Asn806Tyr)
c.1441A>T (p.Asn481Tyr)
c.2155A>T (p.Asn719Tyr)
c.3133A>T (p.Asn1045Tyr)
n.2951A>T
n.3159A>T
1g.197434862A=CA1218068698CRB1c.2999A= (p.Asn1000=)
c.1880A= (p.Asn627=)
c.1142A= (p.Asn381=)
c.2663A= (p.Asn888=)
c.2927A= (p.Asn976=)
c.2129-738A= (n.2129-738A=)
n.3000A=
n.3208A=
c.2417A= (p.Asn806=)
c.1442A= (p.Asn481=)
c.2156A= (p.Asn719=)
c.3134A= (p.Asn1045=)
n.2952A=
n.3160A=
1g.197434862A>CCA344044395CRB1c.2999A>C (p.Asn1000Thr)
c.1880A>C (p.Asn627Thr)
c.1142A>C (p.Asn381Thr)
c.2663A>C (p.Asn888Thr)
c.2927A>C (p.Asn976Thr)
c.2129-738A>C (n.2129-738A>C)
n.3000A>C
n.3208A>C
c.2417A>C (p.Asn806Thr)
c.1442A>C (p.Asn481Thr)
c.2156A>C (p.Asn719Thr)
c.3134A>C (p.Asn1045Thr)
n.2952A>C
n.3160A>C
 dbSNP
1g.197434862A>GCA344044399CRB1c.2999A>G (p.Asn1000Ser)
c.1880A>G (p.Asn627Ser)
c.1142A>G (p.Asn381Ser)
c.2663A>G (p.Asn888Ser)
c.2927A>G (p.Asn976Ser)
c.2129-738A>G (n.2129-738A>G)
n.3000A>G
n.3208A>G
c.2417A>G (p.Asn806Ser)
c.1442A>G (p.Asn481Ser)
c.2156A>G (p.Asn719Ser)
c.3134A>G (p.Asn1045Ser)
n.2952A>G
n.3160A>G
1g.197434862A>TCA344044401CRB1c.2999A>T (p.Asn1000Ile)
c.1880A>T (p.Asn627Ile)
c.1142A>T (p.Asn381Ile)
c.2663A>T (p.Asn888Ile)
c.2927A>T (p.Asn976Ile)
c.2129-738A>T (n.2129-738A>T)
n.3000A>T
n.3208A>T
c.2417A>T (p.Asn806Ile)
c.1442A>T (p.Asn481Ile)
c.2156A>T (p.Asn719Ile)
c.3134A>T (p.Asn1045Ile)
n.2952A>T
n.3160A>T
 gnomAD v4
1g.197434863T>ACA344044403CRB1c.3000T>A (p.Asn1000Lys)
c.1881T>A (p.Asn627Lys)
c.1143T>A (p.Asn381Lys)
c.2664T>A (p.Asn888Lys)
c.2928T>A (p.Asn976Lys)
c.2129-737T>A (n.2129-737T>A)
n.3001T>A
n.3209T>A
c.2418T>A (p.Asn806Lys)
c.1443T>A (p.Asn481Lys)
c.2157T>A (p.Asn719Lys)
c.3135T>A (p.Asn1045Lys)
n.2953T>A
n.3161T>A
1g.197434863T>CCA422672600CRB1c.3000T>C (p.Asn1000=)
c.1881T>C (p.Asn627=)
c.1143T>C (p.Asn381=)
c.2664T>C (p.Asn888=)
c.2928T>C (p.Asn976=)
c.2129-737T>C (n.2129-737T>C)
n.3001T>C
n.3209T>C
c.2418T>C (p.Asn806=)
c.1443T>C (p.Asn481=)
c.2157T>C (p.Asn719=)
c.3135T>C (p.Asn1045=)
n.2953T>C
n.3161T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197434863T>GCA344044404CRB1c.3000T>G (p.Asn1000Lys)
c.1881T>G (p.Asn627Lys)
c.1143T>G (p.Asn381Lys)
c.2664T>G (p.Asn888Lys)
c.2928T>G (p.Asn976Lys)
c.2129-737T>G (n.2129-737T>G)
n.3001T>G
n.3209T>G
c.2418T>G (p.Asn806Lys)
c.1443T>G (p.Asn481Lys)
c.2157T>G (p.Asn719Lys)
c.3135T>G (p.Asn1045Lys)
n.2953T>G
n.3161T>G
1g.197434863T=CA1218068699CRB1c.3000T= (p.Asn1000=)
c.1881T= (p.Asn627=)
c.1143T= (p.Asn381=)
c.2664T= (p.Asn888=)
c.2928T= (p.Asn976=)
c.2129-737T= (n.2129-737T=)
n.3001T=
n.3209T=
c.2418T= (p.Asn806=)
c.1443T= (p.Asn481=)
c.2157T= (p.Asn719=)
c.3135T= (p.Asn1045=)
n.2953T=
n.3161T=
1g.197434864A=CA1218068700CRB1c.3001A= (p.Ile1001=)
c.1882A= (p.Ile628=)
c.1144A= (p.Ile382=)
c.2665A= (p.Ile889=)
c.2929A= (p.Ile977=)
c.2129-736A= (n.2129-736A=)
n.3002A=
n.3210A=
c.2419A= (p.Ile807=)
c.1444A= (p.Ile482=)
c.2158A= (p.Ile720=)
c.3136A= (p.Ile1046=)
n.2954A=
n.3162A=
1g.197434864A>CCA344044405CRB1c.3001A>C (p.Ile1001Leu)
c.1882A>C (p.Ile628Leu)
c.1144A>C (p.Ile382Leu)
c.2665A>C (p.Ile889Leu)
c.2929A>C (p.Ile977Leu)
c.2129-736A>C (n.2129-736A>C)
n.3002A>C
n.3210A>C
c.2419A>C (p.Ile807Leu)
c.1444A>C (p.Ile482Leu)
c.2158A>C (p.Ile720Leu)
c.3136A>C (p.Ile1046Leu)
n.2954A>C
n.3162A>C
1g.197434864A>GCA344044407CRB1c.3001A>G (p.Ile1001Val)
c.1882A>G (p.Ile628Val)
c.1144A>G (p.Ile382Val)
c.2665A>G (p.Ile889Val)
c.2929A>G (p.Ile977Val)
c.2129-736A>G (n.2129-736A>G)
n.3002A>G
n.3210A>G
c.2419A>G (p.Ile807Val)
c.1444A>G (p.Ile482Val)
c.2158A>G (p.Ile720Val)
c.3136A>G (p.Ile1046Val)
n.2954A>G
n.3162A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197434864A>TCA344044411CRB1c.3001A>T (p.Ile1001Phe)
c.1882A>T (p.Ile628Phe)
c.1144A>T (p.Ile382Phe)
c.2665A>T (p.Ile889Phe)
c.2929A>T (p.Ile977Phe)
c.2129-736A>T (n.2129-736A>T)
n.3002A>T
n.3210A>T
c.2419A>T (p.Ile807Phe)
c.1444A>T (p.Ile482Phe)
c.2158A>T (p.Ile720Phe)
c.3136A>T (p.Ile1046Phe)
n.2954A>T
n.3162A>T
1g.197434865T>ACA344044413CRB1c.3002T>A (p.Ile1001Asn)
c.1883T>A (p.Ile628Asn)
c.1145T>A (p.Ile382Asn)
c.2666T>A (p.Ile889Asn)
c.2930T>A (p.Ile977Asn)
c.2129-735T>A (n.2129-735T>A)
n.3003T>A
n.3211T>A
c.2420T>A (p.Ile807Asn)
c.1445T>A (p.Ile482Asn)
c.2159T>A (p.Ile720Asn)
c.3137T>A (p.Ile1046Asn)
n.2955T>A
n.3163T>A
1g.197434865T>CCA344044414CRB1c.3002T>C (p.Ile1001Thr)
c.1883T>C (p.Ile628Thr)
c.1145T>C (p.Ile382Thr)
c.2666T>C (p.Ile889Thr)
c.2930T>C (p.Ile977Thr)
c.2129-735T>C (n.2129-735T>C)
n.3003T>C
n.3211T>C
c.2420T>C (p.Ile807Thr)
c.1445T>C (p.Ile482Thr)
c.2159T>C (p.Ile720Thr)
c.3137T>C (p.Ile1046Thr)
n.2955T>C
n.3163T>C
1g.197434865T>GCA344044415CRB1c.3002T>G (p.Ile1001Ser)
c.1883T>G (p.Ile628Ser)
c.1145T>G (p.Ile382Ser)
c.2666T>G (p.Ile889Ser)
c.2930T>G (p.Ile977Ser)
c.2129-735T>G (n.2129-735T>G)
n.3003T>G
n.3211T>G
c.2420T>G (p.Ile807Ser)
c.1445T>G (p.Ile482Ser)
c.2159T>G (p.Ile720Ser)
c.3137T>G (p.Ile1046Ser)
n.2955T>G
n.3163T>G
1g.197434866T>ACA422672602CRB1c.3003T>A (p.Ile1001=)
c.1884T>A (p.Ile628=)
c.1146T>A (p.Ile382=)
c.2667T>A (p.Ile889=)
c.2931T>A (p.Ile977=)
c.2129-734T>A (n.2129-734T>A)
n.3004T>A
n.3212T>A
c.2421T>A (p.Ile807=)
c.1446T>A (p.Ile482=)
c.2160T>A (p.Ile720=)
c.3138T>A (p.Ile1046=)
n.2956T>A
n.3164T>A
 dbSNP
1g.197434866T>CCA422672603CRB1c.3003T>C (p.Ile1001=)
c.1884T>C (p.Ile628=)
c.1146T>C (p.Ile382=)
c.2667T>C (p.Ile889=)
c.2931T>C (p.Ile977=)
c.2129-734T>C (n.2129-734T>C)
n.3004T>C
n.3212T>C
c.2421T>C (p.Ile807=)
c.1446T>C (p.Ile482=)
c.2160T>C (p.Ile720=)
c.3138T>C (p.Ile1046=)
n.2956T>C
n.3164T>C
1g.197434866T>GCA344044417CRB1c.3003T>G (p.Ile1001Met)
c.1884T>G (p.Ile628Met)
c.1146T>G (p.Ile382Met)
c.2667T>G (p.Ile889Met)
c.2931T>G (p.Ile977Met)
c.2129-734T>G (n.2129-734T>G)
n.3004T>G
n.3212T>G
c.2421T>G (p.Ile807Met)
c.1446T>G (p.Ile482Met)
c.2160T>G (p.Ile720Met)
c.3138T>G (p.Ile1046Met)
n.2956T>G
n.3164T>G
1g.197434866T=CA1218068701CRB1c.3003T= (p.Ile1001=)
c.1884T= (p.Ile628=)
c.1146T= (p.Ile382=)
c.2667T= (p.Ile889=)
c.2931T= (p.Ile977=)
c.2129-734T= (n.2129-734T=)
n.3004T=
n.3212T=
c.2421T= (p.Ile807=)
c.1446T= (p.Ile482=)
c.2160T= (p.Ile720=)
c.3138T= (p.Ile1046=)
n.2956T=
n.3164T=
1g.197434867A>CCA344044444CRB1c.3004A>C (p.Ser1002Arg)
c.1885A>C (p.Ser629Arg)
c.1147A>C (p.Ser383Arg)
c.2668A>C (p.Ser890Arg)
c.2932A>C (p.Ser978Arg)
c.2129-733A>C (n.2129-733A>C)
n.3005A>C
n.3213A>C
c.2422A>C (p.Ser808Arg)
c.1447A>C (p.Ser483Arg)
c.2161A>C (p.Ser721Arg)
c.3139A>C (p.Ser1047Arg)
n.2957A>C
n.3165A>C
1g.197434867A>GCA344044441CRB1c.3004A>G (p.Ser1002Gly)
c.1885A>G (p.Ser629Gly)
c.1147A>G (p.Ser383Gly)
c.2668A>G (p.Ser890Gly)
c.2932A>G (p.Ser978Gly)
c.2129-733A>G (n.2129-733A>G)
n.3005A>G
n.3213A>G
c.2422A>G (p.Ser808Gly)
c.1447A>G (p.Ser483Gly)
c.2161A>G (p.Ser721Gly)
c.3139A>G (p.Ser1047Gly)
n.2957A>G
n.3165A>G
1g.197434867A>TCA344044431CRB1c.3004A>T (p.Ser1002Cys)
c.1885A>T (p.Ser629Cys)
c.1147A>T (p.Ser383Cys)
c.2668A>T (p.Ser890Cys)
c.2932A>T (p.Ser978Cys)
c.2129-733A>T (n.2129-733A>T)
n.3005A>T
n.3213A>T
c.2422A>T (p.Ser808Cys)
c.1447A>T (p.Ser483Cys)
c.2161A>T (p.Ser721Cys)
c.3139A>T (p.Ser1047Cys)
n.2957A>T
n.3165A>T
1g.197434868G>ACA344044448CRB1c.3005G>A (p.Ser1002Asn)
c.1886G>A (p.Ser629Asn)
c.1148G>A (p.Ser383Asn)
c.2669G>A (p.Ser890Asn)
c.2933G>A (p.Ser978Asn)
c.2129-732G>A (n.2129-732G>A)
n.3006G>A
n.3214G>A
c.2423G>A (p.Ser808Asn)
c.1448G>A (p.Ser483Asn)
c.2162G>A (p.Ser721Asn)
c.3140G>A (p.Ser1047Asn)
n.2958G>A
n.3166G>A
 dbSNP
1g.197434868G>CCA344044453CRB1c.3005G>C (p.Ser1002Thr)
c.1886G>C (p.Ser629Thr)
c.1148G>C (p.Ser383Thr)
c.2669G>C (p.Ser890Thr)
c.2933G>C (p.Ser978Thr)
c.2129-732G>C (n.2129-732G>C)
n.3006G>C
n.3214G>C
c.2423G>C (p.Ser808Thr)
c.1448G>C (p.Ser483Thr)
c.2162G>C (p.Ser721Thr)
c.3140G>C (p.Ser1047Thr)
n.2958G>C
n.3166G>C
1g.197434868G=CA1218068702CRB1c.3005G= (p.Ser1002=)
c.1886G= (p.Ser629=)
c.1148G= (p.Ser383=)
c.2669G= (p.Ser890=)
c.2933G= (p.Ser978=)
c.2129-732G= (n.2129-732G=)
n.3006G=
n.3214G=
c.2423G= (p.Ser808=)
c.1448G= (p.Ser483=)
c.2162G= (p.Ser721=)
c.3140G= (p.Ser1047=)
n.2958G=
n.3166G=
1g.197434868G>TCA344044449CRB1c.3005G>T (p.Ser1002Ile)
c.1886G>T (p.Ser629Ile)
c.1148G>T (p.Ser383Ile)
c.2669G>T (p.Ser890Ile)
c.2933G>T (p.Ser978Ile)
c.2129-732G>T (n.2129-732G>T)
n.3006G>T
n.3214G>T
c.2423G>T (p.Ser808Ile)
c.1448G>T (p.Ser483Ile)
c.2162G>T (p.Ser721Ile)
c.3140G>T (p.Ser1047Ile)
n.2958G>T
n.3166G>T
 gnomAD v4
1g.197434869C>ACA344044455CRB1c.3006C>A (p.Ser1002Arg)
c.1887C>A (p.Ser629Arg)
c.1149C>A (p.Ser383Arg)
c.2670C>A (p.Ser890Arg)
c.2934C>A (p.Ser978Arg)
c.2129-731C>A (n.2129-731C>A)
n.3007C>A
n.3215C>A
c.2424C>A (p.Ser808Arg)
c.1449C>A (p.Ser483Arg)
c.2163C>A (p.Ser721Arg)
c.3141C>A (p.Ser1047Arg)
n.2959C>A
n.3167C>A
1g.197434869C=CA1218068703CRB1c.3006C= (p.Ser1002=)
c.1887C= (p.Ser629=)
c.1149C= (p.Ser383=)
c.2670C= (p.Ser890=)
c.2934C= (p.Ser978=)
c.2129-731C= (n.2129-731C=)
n.3007C=
n.3215C=
c.2424C= (p.Ser808=)
c.1449C= (p.Ser483=)
c.2163C= (p.Ser721=)
c.3141C= (p.Ser1047=)
n.2959C=
n.3167C=
1g.197434869C>GCA344044457CRB1c.3006C>G (p.Ser1002Arg)
c.1887C>G (p.Ser629Arg)
c.1149C>G (p.Ser383Arg)
c.2670C>G (p.Ser890Arg)
c.2934C>G (p.Ser978Arg)
c.2129-731C>G (n.2129-731C>G)
n.3007C>G
n.3215C>G
c.2424C>G (p.Ser808Arg)
c.1449C>G (p.Ser483Arg)
c.2163C>G (p.Ser721Arg)
c.3141C>G (p.Ser1047Arg)
n.2959C>G
n.3167C>G
1g.197434869C>TCA422672607CRB1c.3006C>T (p.Ser1002=)
c.1887C>T (p.Ser629=)
c.1149C>T (p.Ser383=)
c.2670C>T (p.Ser890=)
c.2934C>T (p.Ser978=)
c.2129-731C>T (n.2129-731C>T)
n.3007C>T
n.3215C>T
c.2424C>T (p.Ser808=)
c.1449C>T (p.Ser483=)
c.2163C>T (p.Ser721=)
c.3141C>T (p.Ser1047=)
n.2959C>T
n.3167C>T
 dbSNP
1g.197434870A=CA1218068704CRB1c.3007A= (p.Ile1003=)
c.1888A= (p.Ile630=)
c.1150A= (p.Ile384=)
c.2671A= (p.Ile891=)
c.2935A= (p.Ile979=)
c.2129-730A= (n.2129-730A=)
n.3008A=
n.3216A=
c.2425A= (p.Ile809=)
c.1450A= (p.Ile484=)
c.2164A= (p.Ile722=)
c.3142A= (p.Ile1048=)
n.2960A=
n.3168A=
1g.197434870A>CCA344044461CRB1c.3007A>C (p.Ile1003Leu)
c.1888A>C (p.Ile630Leu)
c.1150A>C (p.Ile384Leu)
c.2671A>C (p.Ile891Leu)
c.2935A>C (p.Ile979Leu)
c.2129-730A>C (n.2129-730A>C)
n.3008A>C
n.3216A>C
c.2425A>C (p.Ile809Leu)
c.1450A>C (p.Ile484Leu)
c.2164A>C (p.Ile722Leu)
c.3142A>C (p.Ile1048Leu)
n.2960A>C
n.3168A>C
1g.197434870A>GCA344044474CRB1c.3007A>G (p.Ile1003Val)
c.1888A>G (p.Ile630Val)
c.1150A>G (p.Ile384Val)
c.2671A>G (p.Ile891Val)
c.2935A>G (p.Ile979Val)
c.2129-730A>G (n.2129-730A>G)
n.3008A>G
n.3216A>G
c.2425A>G (p.Ile809Val)
c.1450A>G (p.Ile484Val)
c.2164A>G (p.Ile722Val)
c.3142A>G (p.Ile1048Val)
n.2960A>G
n.3168A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197434870A>TCA35906753CRB1c.3007A>T (p.Ile1003Phe)
c.1888A>T (p.Ile630Phe)
c.1150A>T (p.Ile384Phe)
c.2671A>T (p.Ile891Phe)
c.2935A>T (p.Ile979Phe)
c.2129-730A>T (n.2129-730A>T)
n.3008A>T
n.3216A>T
c.2425A>T (p.Ile809Phe)
c.1450A>T (p.Ile484Phe)
c.2164A>T (p.Ile722Phe)
c.3142A>T (p.Ile1048Phe)
n.2960A>T
n.3168A>T
 ClinVar dbSNP gnomAD v4
1g.197434871T>ACA344044480CRB1c.3008T>A (p.Ile1003Asn)
c.1889T>A (p.Ile630Asn)
c.1151T>A (p.Ile384Asn)
c.2672T>A (p.Ile891Asn)
c.2936T>A (p.Ile979Asn)
c.2129-729T>A (n.2129-729T>A)
n.3009T>A
n.3217T>A
c.2426T>A (p.Ile809Asn)
c.1451T>A (p.Ile484Asn)
c.2165T>A (p.Ile722Asn)
c.3143T>A (p.Ile1048Asn)
n.2961T>A
n.3169T>A
1g.197434871T>CCA344044488CRB1c.3008T>C (p.Ile1003Thr)
c.1889T>C (p.Ile630Thr)
c.1151T>C (p.Ile384Thr)
c.2672T>C (p.Ile891Thr)
c.2936T>C (p.Ile979Thr)
c.2129-729T>C (n.2129-729T>C)
n.3009T>C
n.3217T>C
c.2426T>C (p.Ile809Thr)
c.1451T>C (p.Ile484Thr)
c.2165T>C (p.Ile722Thr)
c.3143T>C (p.Ile1048Thr)
n.2961T>C
n.3169T>C
 dbSNP gnomAD v2 gnomAD v4
1g.197434871T>GCA344044482CRB1c.3008T>G (p.Ile1003Ser)
c.1889T>G (p.Ile630Ser)
c.1151T>G (p.Ile384Ser)
c.2672T>G (p.Ile891Ser)
c.2936T>G (p.Ile979Ser)
c.2129-729T>G (n.2129-729T>G)
n.3009T>G
n.3217T>G
c.2426T>G (p.Ile809Ser)
c.1451T>G (p.Ile484Ser)
c.2165T>G (p.Ile722Ser)
c.3143T>G (p.Ile1048Ser)
n.2961T>G
n.3169T>G
1g.197434871T=CA1218068705CRB1c.3008T= (p.Ile1003=)
c.1889T= (p.Ile630=)
c.1151T= (p.Ile384=)
c.2672T= (p.Ile891=)
c.2936T= (p.Ile979=)
c.2129-729T= (n.2129-729T=)
n.3009T=
n.3217T=
c.2426T= (p.Ile809=)
c.1451T= (p.Ile484=)
c.2165T= (p.Ile722=)
c.3143T= (p.Ile1048=)
n.2961T=
n.3169T=
1g.197434872T>ACA422672610CRB1c.3009T>A (p.Ile1003=)
c.1890T>A (p.Ile630=)
c.1152T>A (p.Ile384=)
c.2673T>A (p.Ile891=)
c.2937T>A (p.Ile979=)
c.2129-728T>A (n.2129-728T>A)
n.3010T>A
n.3218T>A
c.2427T>A (p.Ile809=)
c.1452T>A (p.Ile484=)
c.2166T>A (p.Ile722=)
c.3144T>A (p.Ile1048=)
n.2962T>A
n.3170T>A
1g.197434872T>CCA422672609CRB1c.3009T>C (p.Ile1003=)
c.1890T>C (p.Ile630=)
c.1152T>C (p.Ile384=)
c.2673T>C (p.Ile891=)
c.2937T>C (p.Ile979=)
c.2129-728T>C (n.2129-728T>C)
n.3010T>C
n.3218T>C
c.2427T>C (p.Ile809=)
c.1452T>C (p.Ile484=)
c.2166T>C (p.Ile722=)
c.3144T>C (p.Ile1048=)
n.2962T>C
n.3170T>C
1g.197434872T>GCA344044489CRB1c.3009T>G (p.Ile1003Met)
c.1890T>G (p.Ile630Met)
c.1152T>G (p.Ile384Met)
c.2673T>G (p.Ile891Met)
c.2937T>G (p.Ile979Met)
c.2129-728T>G (n.2129-728T>G)
n.3010T>G
n.3218T>G
c.2427T>G (p.Ile809Met)
c.1452T>G (p.Ile484Met)
c.2166T>G (p.Ile722Met)
c.3144T>G (p.Ile1048Met)
n.2962T>G
n.3170T>G
1g.197434873C>ACA344044491CRB1c.3010C>A (p.Gln1004Lys)
c.1891C>A (p.Gln631Lys)
c.1153C>A (p.Gln385Lys)
c.2674C>A (p.Gln892Lys)
c.2938C>A (p.Gln980Lys)
c.2129-727C>A (n.2129-727C>A)
n.3011C>A
n.3219C>A
c.2428C>A (p.Gln810Lys)
c.1453C>A (p.Gln485Lys)
c.2167C>A (p.Gln723Lys)
c.3145C>A (p.Gln1049Lys)
n.2963C>A
n.3171C>A
1g.197434873C=CA1218068706CRB1c.3010C= (p.Gln1004=)
c.1891C= (p.Gln631=)
c.1153C= (p.Gln385=)
c.2674C= (p.Gln892=)
c.2938C= (p.Gln980=)
c.2129-727C= (n.2129-727C=)
n.3011C=
n.3219C=
c.2428C= (p.Gln810=)
c.1453C= (p.Gln485=)
c.2167C= (p.Gln723=)
c.3145C= (p.Gln1049=)
n.2963C=
n.3171C=
1g.197434873C>GCA344044495CRB1c.3010C>G (p.Gln1004Glu)
c.1891C>G (p.Gln631Glu)
c.1153C>G (p.Gln385Glu)
c.2674C>G (p.Gln892Glu)
c.2938C>G (p.Gln980Glu)
c.2129-727C>G (n.2129-727C>G)
n.3011C>G
n.3219C>G
c.2428C>G (p.Gln810Glu)
c.1453C>G (p.Gln485Glu)
c.2167C>G (p.Gln723Glu)
c.3145C>G (p.Gln1049Glu)
n.2963C>G
n.3171C>G
 dbSNP gnomAD v4
1g.197434873C>TCA344044500CRB1c.3010C>T (p.Gln1004Ter)
c.1891C>T (p.Gln631Ter)
c.1153C>T (p.Gln385Ter)
c.2674C>T (p.Gln892Ter)
c.2938C>T (p.Gln980Ter)
c.2129-727C>T (n.2129-727C>T)
n.3011C>T
n.3219C>T
c.2428C>T (p.Gln810Ter)
c.1453C>T (p.Gln485Ter)
c.2167C>T (p.Gln723Ter)
c.3145C>T (p.Gln1049Ter)
n.2963C>T
n.3171C>T
 gnomAD v4
1g.197434874A>CCA344044507CRB1c.3011A>C (p.Gln1004Pro)
c.1892A>C (p.Gln631Pro)
c.1154A>C (p.Gln385Pro)
c.2675A>C (p.Gln892Pro)
c.2939A>C (p.Gln980Pro)
c.2129-726A>C (n.2129-726A>C)
n.3012A>C
n.3220A>C
c.2429A>C (p.Gln810Pro)
c.1454A>C (p.Gln485Pro)
c.2168A>C (p.Gln723Pro)
c.3146A>C (p.Gln1049Pro)
n.2964A>C
n.3172A>C
1g.197434874A>GCA344044509CRB1c.3011A>G (p.Gln1004Arg)
c.1892A>G (p.Gln631Arg)
c.1154A>G (p.Gln385Arg)
c.2675A>G (p.Gln892Arg)
c.2939A>G (p.Gln980Arg)
c.2129-726A>G (n.2129-726A>G)
n.3012A>G
n.3220A>G
c.2429A>G (p.Gln810Arg)
c.1454A>G (p.Gln485Arg)
c.2168A>G (p.Gln723Arg)
c.3146A>G (p.Gln1049Arg)
n.2964A>G
n.3172A>G
1g.197434874A>TCA344044515CRB1c.3011A>T (p.Gln1004Leu)
c.1892A>T (p.Gln631Leu)
c.1154A>T (p.Gln385Leu)
c.2675A>T (p.Gln892Leu)
c.2939A>T (p.Gln980Leu)
c.2129-726A>T (n.2129-726A>T)
n.3012A>T
n.3220A>T
c.2429A>T (p.Gln810Leu)
c.1454A>T (p.Gln485Leu)
c.2168A>T (p.Gln723Leu)
c.3146A>T (p.Gln1049Leu)
n.2964A>T
n.3172A>T
1g.197434875A>CCA344044525CRB1c.3012A>C (p.Gln1004His)
c.1893A>C (p.Gln631His)
c.1155A>C (p.Gln385His)
c.2676A>C (p.Gln892His)
c.2940A>C (p.Gln980His)
c.2129-725A>C (n.2129-725A>C)
n.3013A>C
n.3221A>C
c.2430A>C (p.Gln810His)
c.1455A>C (p.Gln485His)
c.2169A>C (p.Gln723His)
c.3147A>C (p.Gln1049His)
n.2965A>C
n.3173A>C
1g.197434875A>GCA422672612CRB1c.3012A>G (p.Gln1004=)
c.1893A>G (p.Gln631=)
c.1155A>G (p.Gln385=)
c.2676A>G (p.Gln892=)
c.2940A>G (p.Gln980=)
c.2129-725A>G (n.2129-725A>G)
n.3013A>G
n.3221A>G
c.2430A>G (p.Gln810=)
c.1455A>G (p.Gln485=)
c.2169A>G (p.Gln723=)
c.3147A>G (p.Gln1049=)
n.2965A>G
n.3173A>G
 gnomAD v4
1g.197434875A>TCA344044529CRB1c.3012A>T (p.Gln1004His)
c.1893A>T (p.Gln631His)
c.1155A>T (p.Gln385His)
c.2676A>T (p.Gln892His)
c.2940A>T (p.Gln980His)
c.2129-725A>T (n.2129-725A>T)
n.3013A>T
n.3221A>T
c.2430A>T (p.Gln810His)
c.1455A>T (p.Gln485His)
c.2169A>T (p.Gln723His)
c.3147A>T (p.Gln1049His)
n.2965A>T
n.3173A>T
1g.197434875_197434877delinsTTTCA2740090448CRB1c.3012_3014delinsTTT (p.Gln1004_Asp1005delinsHisPhe)
c.1893_1895delinsTTT (p.Gln631_Asp632delinsHisPhe)
c.1155_1157delinsTTT (p.Gln385_Asp386delinsHisPhe)
c.2676_2678delinsTTT (p.Gln892_Asp893delinsHisPhe)
c.2940_2942delinsTTT (p.Gln980_Asp981delinsHisPhe)
c.2129-725_2129-723delinsTTT (n.2129-725_2129-723delinsTTT)
n.3013_3015delinsTTT
n.3221_3223delinsTTT
c.2430_2432delinsTTT (p.Gln810_Asp811delinsHisPhe)
c.1455_1457delinsTTT (p.Gln485_Asp486delinsHisPhe)
c.2169_2171delinsTTT (p.Gln723_Asp724delinsHisPhe)
c.3147_3149delinsTTT (p.Gln1049_Asp1050delinsHisPhe)
n.2965_2967delinsTTT
n.3173_3175delinsTTT
 ClinVar
1g.197434876G>ACA344044535CRB1c.3013G>A (p.Asp1005Asn)
c.1894G>A (p.Asp632Asn)
c.1156G>A (p.Asp386Asn)
c.2677G>A (p.Asp893Asn)
c.2941G>A (p.Asp981Asn)
c.2129-724G>A (n.2129-724G>A)
n.3014G>A
n.3222G>A
c.2431G>A (p.Asp811Asn)
c.1456G>A (p.Asp486Asn)
c.2170G>A (p.Asp724Asn)
c.3148G>A (p.Asp1050Asn)
n.2966G>A
n.3174G>A
 gnomAD v4 COSMIC COSMIC
1g.197434876G>CCA344044543CRB1c.3013G>C (p.Asp1005His)
c.1894G>C (p.Asp632His)
c.1156G>C (p.Asp386His)
c.2677G>C (p.Asp893His)
c.2941G>C (p.Asp981His)
c.2129-724G>C (n.2129-724G>C)
n.3014G>C
n.3222G>C
c.2431G>C (p.Asp811His)
c.1456G>C (p.Asp486His)
c.2170G>C (p.Asp724His)
c.3148G>C (p.Asp1050His)
n.2966G>C
n.3174G>C
1g.197434876G>TCA344044547CRB1c.3013G>T (p.Asp1005Tyr)
c.1894G>T (p.Asp632Tyr)
c.1156G>T (p.Asp386Tyr)
c.2677G>T (p.Asp893Tyr)
c.2941G>T (p.Asp981Tyr)
c.2129-724G>T (n.2129-724G>T)
n.3014G>T
n.3222G>T
c.2431G>T (p.Asp811Tyr)
c.1456G>T (p.Asp486Tyr)
c.2170G>T (p.Asp724Tyr)
c.3148G>T (p.Asp1050Tyr)
n.2966G>T
n.3174G>T
 COSMIC COSMIC
1g.197434877A=CA1143646962CRB1c.3014A= (p.Asp1005=)
c.1895A= (p.Asp632=)
c.1157A= (p.Asp386=)
c.2678A= (p.Asp893=)
c.2942A= (p.Asp981=)
c.2129-723A= (n.2129-723A=)
n.3015A=
n.3223A=
c.2432A= (p.Asp811=)
c.1457A= (p.Asp486=)
c.2171A= (p.Asp724=)
c.3149A= (p.Asp1050=)
n.2967A=
n.3175A=
1g.197434877A>CCA344044566CRB1c.3014A>C (p.Asp1005Ala)
c.1895A>C (p.Asp632Ala)
c.1157A>C (p.Asp386Ala)
c.2678A>C (p.Asp893Ala)
c.2942A>C (p.Asp981Ala)
c.2129-723A>C (n.2129-723A>C)
n.3015A>C
n.3223A>C
c.2432A>C (p.Asp811Ala)
c.1457A>C (p.Asp486Ala)
c.2171A>C (p.Asp724Ala)
c.3149A>C (p.Asp1050Ala)
n.2967A>C
n.3175A>C
1g.197434877A>GCA35906762CRB1c.3014A>G (p.Asp1005Gly)
c.1895A>G (p.Asp632Gly)
c.1157A>G (p.Asp386Gly)
c.2678A>G (p.Asp893Gly)
c.2942A>G (p.Asp981Gly)
c.2129-723A>G (n.2129-723A>G)
n.3015A>G
n.3223A>G
c.2432A>G (p.Asp811Gly)
c.1457A>G (p.Asp486Gly)
c.2171A>G (p.Asp724Gly)
c.3149A>G (p.Asp1050Gly)
n.2967A>G
n.3175A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197434877A>TCA1312260CRB1c.3014A>T (p.Asp1005Val)
c.1895A>T (p.Asp632Val)
c.1157A>T (p.Asp386Val)
c.2678A>T (p.Asp893Val)
c.2942A>T (p.Asp981Val)
c.2129-723A>T (n.2129-723A>T)
n.3015A>T
n.3223A>T
c.2432A>T (p.Asp811Val)
c.1457A>T (p.Asp486Val)
c.2171A>T (p.Asp724Val)
c.3149A>T (p.Asp1050Val)
n.2967A>T
n.3175A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434878T>ACA344044568CRB1c.3015T>A (p.Asp1005Glu)
c.1896T>A (p.Asp632Glu)
c.1158T>A (p.Asp386Glu)
c.2679T>A (p.Asp893Glu)
c.2943T>A (p.Asp981Glu)
c.2129-722T>A (n.2129-722T>A)
n.3016T>A
n.3224T>A
c.2433T>A (p.Asp811Glu)
c.1458T>A (p.Asp486Glu)
c.2172T>A (p.Asp724Glu)
c.3150T>A (p.Asp1050Glu)
n.2968T>A
n.3176T>A
1g.197434878T>CCA422672613CRB1c.3015T>C (p.Asp1005=)
c.1896T>C (p.Asp632=)
c.1158T>C (p.Asp386=)
c.2679T>C (p.Asp893=)
c.2943T>C (p.Asp981=)
c.2129-722T>C (n.2129-722T>C)
n.3016T>C
n.3224T>C
c.2433T>C (p.Asp811=)
c.1458T>C (p.Asp486=)
c.2172T>C (p.Asp724=)
c.3150T>C (p.Asp1050=)
n.2968T>C
n.3176T>C
1g.197434878T>GCA344044569CRB1c.3015T>G (p.Asp1005Glu)
c.1896T>G (p.Asp632Glu)
c.1158T>G (p.Asp386Glu)
c.2679T>G (p.Asp893Glu)
c.2943T>G (p.Asp981Glu)
c.2129-722T>G (n.2129-722T>G)
n.3016T>G
n.3224T>G
c.2433T>G (p.Asp811Glu)
c.1458T>G (p.Asp486Glu)
c.2172T>G (p.Asp724Glu)
c.3150T>G (p.Asp1050Glu)
n.2968T>G
n.3176T>G
1g.197434879T>ACA344044572CRB1c.3016T>A (p.Ser1006Thr)
c.1897T>A (p.Ser633Thr)
c.1159T>A (p.Ser387Thr)
c.2680T>A (p.Ser894Thr)
c.2944T>A (p.Ser982Thr)
c.2129-721T>A (n.2129-721T>A)
n.3017T>A
n.3225T>A
c.2434T>A (p.Ser812Thr)
c.1459T>A (p.Ser487Thr)
c.2173T>A (p.Ser725Thr)
c.3151T>A (p.Ser1051Thr)
n.2969T>A
n.3177T>A
 dbSNP gnomAD v4
1g.197434879T>CCA35906782CRB1c.3016T>C (p.Ser1006Pro)
c.1897T>C (p.Ser633Pro)
c.1159T>C (p.Ser387Pro)
c.2680T>C (p.Ser894Pro)
c.2944T>C (p.Ser982Pro)
c.2129-721T>C (n.2129-721T>C)
n.3017T>C
n.3225T>C
c.2434T>C (p.Ser812Pro)
c.1459T>C (p.Ser487Pro)
c.2173T>C (p.Ser725Pro)
c.3151T>C (p.Ser1051Pro)
n.2969T>C
n.3177T>C
 dbSNP
1g.197434879T>GCA344044586CRB1c.3016T>G (p.Ser1006Ala)
c.1897T>G (p.Ser633Ala)
c.1159T>G (p.Ser387Ala)
c.2680T>G (p.Ser894Ala)
c.2944T>G (p.Ser982Ala)
c.2129-721T>G (n.2129-721T>G)
n.3017T>G
n.3225T>G
c.2434T>G (p.Ser812Ala)
c.1459T>G (p.Ser487Ala)
c.2173T>G (p.Ser725Ala)
c.3151T>G (p.Ser1051Ala)
n.2969T>G
n.3177T>G
1g.197434879T=CA1218068707CRB1c.3016T= (p.Ser1006=)
c.1897T= (p.Ser633=)
c.1159T= (p.Ser387=)
c.2680T= (p.Ser894=)
c.2944T= (p.Ser982=)
c.2129-721T= (n.2129-721T=)
n.3017T=
n.3225T=
c.2434T= (p.Ser812=)
c.1459T= (p.Ser487=)
c.2173T= (p.Ser725=)
c.3151T= (p.Ser1051=)
n.2969T=
n.3177T=
1g.197434880C>ACA344044595CRB1c.3017C>A (p.Ser1006Tyr)
c.1898C>A (p.Ser633Tyr)
c.1160C>A (p.Ser387Tyr)
c.2681C>A (p.Ser894Tyr)
c.2945C>A (p.Ser982Tyr)
c.2129-720C>A (n.2129-720C>A)
n.3018C>A
n.3226C>A
c.2435C>A (p.Ser812Tyr)
c.1460C>A (p.Ser487Tyr)
c.2174C>A (p.Ser725Tyr)
c.3152C>A (p.Ser1051Tyr)
n.2970C>A
n.3178C>A
 ClinVar
1g.197434880C=CA1218068708CRB1c.3017C= (p.Ser1006=)
c.1898C= (p.Ser633=)
c.1160C= (p.Ser387=)
c.2681C= (p.Ser894=)
c.2945C= (p.Ser982=)
c.2129-720C= (n.2129-720C=)
n.3018C=
n.3226C=
c.2435C= (p.Ser812=)
c.1460C= (p.Ser487=)
c.2174C= (p.Ser725=)
c.3152C= (p.Ser1051=)
n.2970C=
n.3178C=
1g.197434880C>GCA344044597CRB1c.3017C>G (p.Ser1006Cys)
c.1898C>G (p.Ser633Cys)
c.1160C>G (p.Ser387Cys)
c.2681C>G (p.Ser894Cys)
c.2945C>G (p.Ser982Cys)
c.2129-720C>G (n.2129-720C>G)
n.3018C>G
n.3226C>G
c.2435C>G (p.Ser812Cys)
c.1460C>G (p.Ser487Cys)
c.2174C>G (p.Ser725Cys)
c.3152C>G (p.Ser1051Cys)
n.2970C>G
n.3178C>G
1g.197434880C>TCA10581632CRB1c.3017C>T (p.Ser1006Phe)
c.1898C>T (p.Ser633Phe)
c.1160C>T (p.Ser387Phe)
c.2681C>T (p.Ser894Phe)
c.2945C>T (p.Ser982Phe)
c.2129-720C>T (n.2129-720C>T)
n.3018C>T
n.3226C>T
c.2435C>T (p.Ser812Phe)
c.1460C>T (p.Ser487Phe)
c.2174C>T (p.Ser725Phe)
c.3152C>T (p.Ser1051Phe)
n.2970C>T
n.3178C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.197434881C>ACA422808695CRB1c.3018C>A (p.Ser1006=)
c.1899C>A (p.Ser633=)
c.1161C>A (p.Ser387=)
c.2682C>A (p.Ser894=)
c.2946C>A (p.Ser982=)
c.2129-719C>A (n.2129-719C>A)
n.3019C>A
n.3227C>A
c.2436C>A (p.Ser812=)
c.1461C>A (p.Ser487=)
c.2175C>A (p.Ser725=)
c.3153C>A (p.Ser1051=)
n.2971C>A
n.3179C>A
1g.197434881C>GCA422808697CRB1c.3018C>G (p.Ser1006=)
c.1899C>G (p.Ser633=)
c.1161C>G (p.Ser387=)
c.2682C>G (p.Ser894=)
c.2946C>G (p.Ser982=)
c.2129-719C>G (n.2129-719C>G)
n.3019C>G
n.3227C>G
c.2436C>G (p.Ser812=)
c.1461C>G (p.Ser487=)
c.2175C>G (p.Ser725=)
c.3153C>G (p.Ser1051=)
n.2971C>G
n.3179C>G
1g.197434881C>TCA422808698CRB1c.3018C>T (p.Ser1006=)
c.1899C>T (p.Ser633=)
c.1161C>T (p.Ser387=)
c.2682C>T (p.Ser894=)
c.2946C>T (p.Ser982=)
c.2129-719C>T (n.2129-719C>T)
n.3019C>T
n.3227C>T
c.2436C>T (p.Ser812=)
c.1461C>T (p.Ser487=)
c.2175C>T (p.Ser725=)
c.3153C>T (p.Ser1051=)
n.2971C>T
n.3179C>T
1g.197434882A>CCA422808699CRB1c.3019A>C (p.Arg1007=)
c.1900A>C (p.Arg634=)
c.1162A>C (p.Arg388=)
c.2683A>C (p.Arg895=)
c.2947A>C (p.Arg983=)
c.2129-718A>C (n.2129-718A>C)
n.3020A>C
n.3228A>C
c.2437A>C (p.Arg813=)
c.1462A>C (p.Arg488=)
c.2176A>C (p.Arg726=)
c.3154A>C (p.Arg1052=)
n.2972A>C
n.3180A>C
 gnomAD v4
1g.197434882A>GCA344044600CRB1c.3019A>G (p.Arg1007Gly)
c.1900A>G (p.Arg634Gly)
c.1162A>G (p.Arg388Gly)
c.2683A>G (p.Arg895Gly)
c.2947A>G (p.Arg983Gly)
c.2129-718A>G (n.2129-718A>G)
n.3020A>G
n.3228A>G
c.2437A>G (p.Arg813Gly)
c.1462A>G (p.Arg488Gly)
c.2176A>G (p.Arg726Gly)
c.3154A>G (p.Arg1052Gly)
n.2972A>G
n.3180A>G
1g.197434882A>TCA344044605CRB1c.3019A>T (p.Arg1007Ter)
c.1900A>T (p.Arg634Ter)
c.1162A>T (p.Arg388Ter)
c.2683A>T (p.Arg895Ter)
c.2947A>T (p.Arg983Ter)
c.2129-718A>T (n.2129-718A>T)
n.3020A>T
n.3228A>T
c.2437A>T (p.Arg813Ter)
c.1462A>T (p.Arg488Ter)
c.2176A>T (p.Arg726Ter)
c.3154A>T (p.Arg1052Ter)
n.2972A>T
n.3180A>T
1g.197434883G>ACA344044609CRB1c.3020G>A (p.Arg1007Lys)
c.1901G>A (p.Arg634Lys)
c.1163G>A (p.Arg388Lys)
c.2684G>A (p.Arg895Lys)
c.2948G>A (p.Arg983Lys)
c.2129-717G>A (n.2129-717G>A)
n.3021G>A
n.3229G>A
c.2438G>A (p.Arg813Lys)
c.1463G>A (p.Arg488Lys)
c.2177G>A (p.Arg726Lys)
c.3155G>A (p.Arg1052Lys)
n.2973G>A
n.3181G>A
 COSMIC
1g.197434883G>CCA344044608CRB1c.3020G>C (p.Arg1007Thr)
c.1901G>C (p.Arg634Thr)
c.1163G>C (p.Arg388Thr)
c.2684G>C (p.Arg895Thr)
c.2948G>C (p.Arg983Thr)
c.2129-717G>C (n.2129-717G>C)
n.3021G>C
n.3229G>C
c.2438G>C (p.Arg813Thr)
c.1463G>C (p.Arg488Thr)
c.2177G>C (p.Arg726Thr)
c.3155G>C (p.Arg1052Thr)
n.2973G>C
n.3181G>C
 gnomAD v4
1g.197434883G=CA1148463359CRB1c.3020G= (p.Arg1007=)
c.1901G= (p.Arg634=)
c.1163G= (p.Arg388=)
c.2684G= (p.Arg895=)
c.2948G= (p.Arg983=)
c.2129-717G= (n.2129-717G=)
n.3021G=
n.3229G=
c.2438G= (p.Arg813=)
c.1463G= (p.Arg488=)
c.2177G= (p.Arg726=)
c.3155G= (p.Arg1052=)
n.2973G=
n.3181G=
1g.197434883G>TCA1312261CRB1c.3020G>T (p.Arg1007Ile)
c.1901G>T (p.Arg634Ile)
c.1163G>T (p.Arg388Ile)
c.2684G>T (p.Arg895Ile)
c.2948G>T (p.Arg983Ile)
c.2129-717G>T (n.2129-717G>T)
n.3021G>T
n.3229G>T
c.2438G>T (p.Arg813Ile)
c.1463G>T (p.Arg488Ile)
c.2177G>T (p.Arg726Ile)
c.3155G>T (p.Arg1052Ile)
n.2973G>T
n.3181G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434884A=CA1218068709CRB1c.3021A= (p.Arg1007=)
c.1902A= (p.Arg634=)
c.1164A= (p.Arg388=)
c.2685A= (p.Arg895=)
c.2949A= (p.Arg983=)
c.2129-716A= (n.2129-716A=)
n.3022A=
n.3230A=
c.2439A= (p.Arg813=)
c.1464A= (p.Arg488=)
c.2178A= (p.Arg726=)
c.3156A= (p.Arg1052=)
n.2974A=
n.3182A=
1g.197434884A>CCA344044610CRB1c.3021A>C (p.Arg1007Ser)
c.1902A>C (p.Arg634Ser)
c.1164A>C (p.Arg388Ser)
c.2685A>C (p.Arg895Ser)
c.2949A>C (p.Arg983Ser)
c.2129-716A>C (n.2129-716A>C)
n.3022A>C
n.3230A>C
c.2439A>C (p.Arg813Ser)
c.1464A>C (p.Arg488Ser)
c.2178A>C (p.Arg726Ser)
c.3156A>C (p.Arg1052Ser)
n.2974A>C
n.3182A>C
1g.197434884A>GCA422808704CRB1c.3021A>G (p.Arg1007=)
c.1902A>G (p.Arg634=)
c.1164A>G (p.Arg388=)
c.2685A>G (p.Arg895=)
c.2949A>G (p.Arg983=)
c.2129-716A>G (n.2129-716A>G)
n.3022A>G
n.3230A>G
c.2439A>G (p.Arg813=)
c.1464A>G (p.Arg488=)
c.2178A>G (p.Arg726=)
c.3156A>G (p.Arg1052=)
n.2974A>G
n.3182A>G
 dbSNP gnomAD v2 gnomAD v4
1g.197434884A>TCA344044613CRB1c.3021A>T (p.Arg1007Ser)
c.1902A>T (p.Arg634Ser)
c.1164A>T (p.Arg388Ser)
c.2685A>T (p.Arg895Ser)
c.2949A>T (p.Arg983Ser)
c.2129-716A>T (n.2129-716A>T)
n.3022A>T
n.3230A>T
c.2439A>T (p.Arg813Ser)
c.1464A>T (p.Arg488Ser)
c.2178A>T (p.Arg726Ser)
c.3156A>T (p.Arg1052Ser)
n.2974A>T
n.3182A>T
1g.197434885T>ACA344044621CRB1c.3022T>A (p.Leu1008Ile)
c.1903T>A (p.Leu635Ile)
c.1165T>A (p.Leu389Ile)
c.2686T>A (p.Leu896Ile)
c.2950T>A (p.Leu984Ile)
c.2129-715T>A (n.2129-715T>A)
n.3023T>A
n.3231T>A
c.2440T>A (p.Leu814Ile)
c.1465T>A (p.Leu489Ile)
c.2179T>A (p.Leu727Ile)
c.3157T>A (p.Leu1053Ile)
n.2975T>A
n.3183T>A
1g.197434885T>CCA422808708CRB1c.3022T>C (p.Leu1008=)
c.1903T>C (p.Leu635=)
c.1165T>C (p.Leu389=)
c.2686T>C (p.Leu896=)
c.2950T>C (p.Leu984=)
c.2129-715T>C (n.2129-715T>C)
n.3023T>C
n.3231T>C
c.2440T>C (p.Leu814=)
c.1465T>C (p.Leu489=)
c.2179T>C (p.Leu727=)
c.3157T>C (p.Leu1053=)
n.2975T>C
n.3183T>C
1g.197434885T>GCA344044626CRB1c.3022T>G (p.Leu1008Val)
c.1903T>G (p.Leu635Val)
c.1165T>G (p.Leu389Val)
c.2686T>G (p.Leu896Val)
c.2950T>G (p.Leu984Val)
c.2129-715T>G (n.2129-715T>G)
n.3023T>G
n.3231T>G
c.2440T>G (p.Leu814Val)
c.1465T>G (p.Leu489Val)
c.2179T>G (p.Leu727Val)
c.3157T>G (p.Leu1053Val)
n.2975T>G
n.3183T>G
1g.197434886T>ACA344044642CRB1c.3023T>A (p.Leu1008Ter)
c.1904T>A (p.Leu635Ter)
c.1166T>A (p.Leu389Ter)
c.2687T>A (p.Leu896Ter)
c.2951T>A (p.Leu984Ter)
c.2129-714T>A (n.2129-714T>A)
n.3024T>A
n.3232T>A
c.2441T>A (p.Leu814Ter)
c.1466T>A (p.Leu489Ter)
c.2180T>A (p.Leu727Ter)
c.3158T>A (p.Leu1053Ter)
n.2976T>A
n.3184T>A
1g.197434886T>CCA1312262CRB1c.3023T>C (p.Leu1008Ser)
c.1904T>C (p.Leu635Ser)
c.1166T>C (p.Leu389Ser)
c.2687T>C (p.Leu896Ser)
c.2951T>C (p.Leu984Ser)
c.2129-714T>C (n.2129-714T>C)
n.3024T>C
n.3232T>C
c.2441T>C (p.Leu814Ser)
c.1466T>C (p.Leu489Ser)
c.2180T>C (p.Leu727Ser)
c.3158T>C (p.Leu1053Ser)
n.2976T>C
n.3184T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434886T>GCA344044652CRB1c.3023T>G (p.Leu1008Ter)
c.1904T>G (p.Leu635Ter)
c.1166T>G (p.Leu389Ter)
c.2687T>G (p.Leu896Ter)
c.2951T>G (p.Leu984Ter)
c.2129-714T>G (n.2129-714T>G)
n.3024T>G
n.3232T>G
c.2441T>G (p.Leu814Ter)
c.1466T>G (p.Leu489Ter)
c.2180T>G (p.Leu727Ter)
c.3158T>G (p.Leu1053Ter)
n.2976T>G
n.3184T>G
1g.197434886T=CA1148010664CRB1c.3023T= (p.Leu1008=)
c.1904T= (p.Leu635=)
c.1166T= (p.Leu389=)
c.2687T= (p.Leu896=)
c.2951T= (p.Leu984=)
c.2129-714T= (n.2129-714T=)
n.3024T=
n.3232T=
c.2441T= (p.Leu814=)
c.1466T= (p.Leu489=)
c.2180T= (p.Leu727=)
c.3158T= (p.Leu1053=)
n.2976T=
n.3184T=
1g.197434887A>CCA344044657CRB1c.3024A>C (p.Leu1008Phe)
c.1905A>C (p.Leu635Phe)
c.1167A>C (p.Leu389Phe)
c.2688A>C (p.Leu896Phe)
c.2952A>C (p.Leu984Phe)
c.2129-713A>C (n.2129-713A>C)
n.3025A>C
n.3233A>C
c.2442A>C (p.Leu814Phe)
c.1467A>C (p.Leu489Phe)
c.2181A>C (p.Leu727Phe)
c.3159A>C (p.Leu1053Phe)
n.2977A>C
n.3185A>C
1g.197434887A>GCA422808710CRB1c.3024A>G (p.Leu1008=)
c.1905A>G (p.Leu635=)
c.1167A>G (p.Leu389=)
c.2688A>G (p.Leu896=)
c.2952A>G (p.Leu984=)
c.2129-713A>G (n.2129-713A>G)
n.3025A>G
n.3233A>G
c.2442A>G (p.Leu814=)
c.1467A>G (p.Leu489=)
c.2181A>G (p.Leu727=)
c.3159A>G (p.Leu1053=)
n.2977A>G
n.3185A>G
1g.197434887A>TCA344044659CRB1c.3024A>T (p.Leu1008Phe)
c.1905A>T (p.Leu635Phe)
c.1167A>T (p.Leu389Phe)
c.2688A>T (p.Leu896Phe)
c.2952A>T (p.Leu984Phe)
c.2129-713A>T (n.2129-713A>T)
n.3025A>T
n.3233A>T
c.2442A>T (p.Leu814Phe)
c.1467A>T (p.Leu489Phe)
c.2181A>T (p.Leu727Phe)
c.3159A>T (p.Leu1053Phe)
n.2977A>T
n.3185A>T
1g.197434888T>ACA344044664CRB1c.3025T>A (p.Phe1009Ile)
c.1906T>A (p.Phe636Ile)
c.1168T>A (p.Phe390Ile)
c.2689T>A (p.Phe897Ile)
c.2953T>A (p.Phe985Ile)
c.2129-712T>A (n.2129-712T>A)
n.3026T>A
n.3234T>A
c.2443T>A (p.Phe815Ile)
c.1468T>A (p.Phe490Ile)
c.2182T>A (p.Phe728Ile)
c.3160T>A (p.Phe1054Ile)
n.2978T>A
n.3186T>A
1g.197434888T>CCA344044665CRB1c.3025T>C (p.Phe1009Leu)
c.1906T>C (p.Phe636Leu)
c.1168T>C (p.Phe390Leu)
c.2689T>C (p.Phe897Leu)
c.2953T>C (p.Phe985Leu)
c.2129-712T>C (n.2129-712T>C)
n.3026T>C
n.3234T>C
c.2443T>C (p.Phe815Leu)
c.1468T>C (p.Phe490Leu)
c.2182T>C (p.Phe728Leu)
c.3160T>C (p.Phe1054Leu)
n.2978T>C
n.3186T>C
1g.197434888T>GCA344044670CRB1c.3025T>G (p.Phe1009Val)
c.1906T>G (p.Phe636Val)
c.1168T>G (p.Phe390Val)
c.2689T>G (p.Phe897Val)
c.2953T>G (p.Phe985Val)
c.2129-712T>G (n.2129-712T>G)
n.3026T>G
n.3234T>G
c.2443T>G (p.Phe815Val)
c.1468T>G (p.Phe490Val)
c.2182T>G (p.Phe728Val)
c.3160T>G (p.Phe1054Val)
n.2978T>G
n.3186T>G
 dbSNP
1g.197434888T=CA1218068710CRB1c.3025T= (p.Phe1009=)
c.1906T= (p.Phe636=)
c.1168T= (p.Phe390=)
c.2689T= (p.Phe897=)
c.2953T= (p.Phe985=)
c.2129-712T= (n.2129-712T=)
n.3026T=
n.3234T=
c.2443T= (p.Phe815=)
c.1468T= (p.Phe490=)
c.2182T= (p.Phe728=)
c.3160T= (p.Phe1054=)
n.2978T=
n.3186T=
1g.197434889T>ACA344044687CRB1c.3026T>A (p.Phe1009Tyr)
c.1907T>A (p.Phe636Tyr)
c.1169T>A (p.Phe390Tyr)
c.2690T>A (p.Phe897Tyr)
c.2954T>A (p.Phe985Tyr)
c.2129-711T>A (n.2129-711T>A)
n.3027T>A
n.3235T>A
c.2444T>A (p.Phe815Tyr)
c.1469T>A (p.Phe490Tyr)
c.2183T>A (p.Phe728Tyr)
c.3161T>A (p.Phe1054Tyr)
n.2979T>A
n.3187T>A
1g.197434889T>CCA344044680CRB1c.3026T>C (p.Phe1009Ser)
c.1907T>C (p.Phe636Ser)
c.1169T>C (p.Phe390Ser)
c.2690T>C (p.Phe897Ser)
c.2954T>C (p.Phe985Ser)
c.2129-711T>C (n.2129-711T>C)
n.3027T>C
n.3235T>C
c.2444T>C (p.Phe815Ser)
c.1469T>C (p.Phe490Ser)
c.2183T>C (p.Phe728Ser)
c.3161T>C (p.Phe1054Ser)
n.2979T>C
n.3187T>C
1g.197434889T>GCA344044684CRB1c.3026T>G (p.Phe1009Cys)
c.1907T>G (p.Phe636Cys)
c.1169T>G (p.Phe390Cys)
c.2690T>G (p.Phe897Cys)
c.2954T>G (p.Phe985Cys)
c.2129-711T>G (n.2129-711T>G)
n.3027T>G
n.3235T>G
c.2444T>G (p.Phe815Cys)
c.1469T>G (p.Phe490Cys)
c.2183T>G (p.Phe728Cys)
c.3161T>G (p.Phe1054Cys)
n.2979T>G
n.3187T>G
1g.197434890C>ACA344044691CRB1c.3027C>A (p.Phe1009Leu)
c.1908C>A (p.Phe636Leu)
c.1170C>A (p.Phe390Leu)
c.2691C>A (p.Phe897Leu)
c.2955C>A (p.Phe985Leu)
c.2129-710C>A (n.2129-710C>A)
n.3028C>A
n.3236C>A
c.2445C>A (p.Phe815Leu)
c.1470C>A (p.Phe490Leu)
c.2184C>A (p.Phe728Leu)
c.3162C>A (p.Phe1054Leu)
n.2980C>A
n.3188C>A
 gnomAD v4
1g.197434890C=CA1218068711CRB1c.3027C= (p.Phe1009=)
c.1908C= (p.Phe636=)
c.1170C= (p.Phe390=)
c.2691C= (p.Phe897=)
c.2955C= (p.Phe985=)
c.2129-710C= (n.2129-710C=)
n.3028C=
n.3236C=
c.2445C= (p.Phe815=)
c.1470C= (p.Phe490=)
c.2184C= (p.Phe728=)
c.3162C= (p.Phe1054=)
n.2980C=
n.3188C=
1g.197434890C>GCA344044705CRB1c.3027C>G (p.Phe1009Leu)
c.1908C>G (p.Phe636Leu)
c.1170C>G (p.Phe390Leu)
c.2691C>G (p.Phe897Leu)
c.2955C>G (p.Phe985Leu)
c.2129-710C>G (n.2129-710C>G)
n.3028C>G
n.3236C>G
c.2445C>G (p.Phe815Leu)
c.1470C>G (p.Phe490Leu)
c.2184C>G (p.Phe728Leu)
c.3162C>G (p.Phe1054Leu)
n.2980C>G
n.3188C>G
1g.197434890C>TCA1312263CRB1c.3027C>T (p.Phe1009=)
c.1908C>T (p.Phe636=)
c.1170C>T (p.Phe390=)
c.2691C>T (p.Phe897=)
c.2955C>T (p.Phe985=)
c.2129-710C>T (n.2129-710C>T)
n.3028C>T
n.3236C>T
c.2445C>T (p.Phe815=)
c.1470C>T (p.Phe490=)
c.2184C>T (p.Phe728=)
c.3162C>T (p.Phe1054=)
n.2980C>T
n.3188C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434891T>ACA344044723CRB1c.3028T>A (p.Phe1010Ile)
c.1909T>A (p.Phe637Ile)
c.1171T>A (p.Phe391Ile)
c.2692T>A (p.Phe898Ile)
c.2956T>A (p.Phe986Ile)
c.2129-709T>A (n.2129-709T>A)
n.3029T>A
n.3237T>A
c.2446T>A (p.Phe816Ile)
c.1471T>A (p.Phe491Ile)
c.2185T>A (p.Phe729Ile)
c.3163T>A (p.Phe1055Ile)
n.2981T>A
n.3189T>A
1g.197434891T>CCA344044727CRB1c.3028T>C (p.Phe1010Leu)
c.1909T>C (p.Phe637Leu)
c.1171T>C (p.Phe391Leu)
c.2692T>C (p.Phe898Leu)
c.2956T>C (p.Phe986Leu)
c.2129-709T>C (n.2129-709T>C)
n.3029T>C
n.3237T>C
c.2446T>C (p.Phe816Leu)
c.1471T>C (p.Phe491Leu)
c.2185T>C (p.Phe729Leu)
c.3163T>C (p.Phe1055Leu)
n.2981T>C
n.3189T>C
1g.197434891T>GCA344044735CRB1c.3028T>G (p.Phe1010Val)
c.1909T>G (p.Phe637Val)
c.1171T>G (p.Phe391Val)
c.2692T>G (p.Phe898Val)
c.2956T>G (p.Phe986Val)
c.2129-709T>G (n.2129-709T>G)
n.3029T>G
n.3237T>G
c.2446T>G (p.Phe816Val)
c.1471T>G (p.Phe491Val)
c.2185T>G (p.Phe729Val)
c.3163T>G (p.Phe1055Val)
n.2981T>G
n.3189T>G
1g.197434892T>ACA344044742CRB1c.3029T>A (p.Phe1010Tyr)
c.1910T>A (p.Phe637Tyr)
c.1172T>A (p.Phe391Tyr)
c.2693T>A (p.Phe898Tyr)
c.2957T>A (p.Phe986Tyr)
c.2129-708T>A (n.2129-708T>A)
n.3030T>A
n.3238T>A
c.2447T>A (p.Phe816Tyr)
c.1472T>A (p.Phe491Tyr)
c.2186T>A (p.Phe729Tyr)
c.3164T>A (p.Phe1055Tyr)
n.2982T>A
n.3190T>A
1g.197434892T>CCA344044743CRB1c.3029T>C (p.Phe1010Ser)
c.1910T>C (p.Phe637Ser)
c.1172T>C (p.Phe391Ser)
c.2693T>C (p.Phe898Ser)
c.2957T>C (p.Phe986Ser)
c.2129-708T>C (n.2129-708T>C)
n.3030T>C
n.3238T>C
c.2447T>C (p.Phe816Ser)
c.1472T>C (p.Phe491Ser)
c.2186T>C (p.Phe729Ser)
c.3164T>C (p.Phe1055Ser)
n.2982T>C
n.3190T>C
1g.197434892T>GCA344044744CRB1c.3029T>G (p.Phe1010Cys)
c.1910T>G (p.Phe637Cys)
c.1172T>G (p.Phe391Cys)
c.2693T>G (p.Phe898Cys)
c.2957T>G (p.Phe986Cys)
c.2129-708T>G (n.2129-708T>G)
n.3030T>G
n.3238T>G
c.2447T>G (p.Phe816Cys)
c.1472T>G (p.Phe491Cys)
c.2186T>G (p.Phe729Cys)
c.3164T>G (p.Phe1055Cys)
n.2982T>G
n.3190T>G
1g.197434893T>ACA344044747CRB1c.3030T>A (p.Phe1010Leu)
c.1911T>A (p.Phe637Leu)
c.1173T>A (p.Phe391Leu)
c.2694T>A (p.Phe898Leu)
c.2958T>A (p.Phe986Leu)
c.2129-707T>A (n.2129-707T>A)
n.3031T>A
n.3239T>A
c.2448T>A (p.Phe816Leu)
c.1473T>A (p.Phe491Leu)
c.2187T>A (p.Phe729Leu)
c.3165T>A (p.Phe1055Leu)
n.2983T>A
n.3191T>A
1g.197434893T>CCA422808713CRB1c.3030T>C (p.Phe1010=)
c.1911T>C (p.Phe637=)
c.1173T>C (p.Phe391=)
c.2694T>C (p.Phe898=)
c.2958T>C (p.Phe986=)
c.2129-707T>C (n.2129-707T>C)
n.3031T>C
n.3239T>C
c.2448T>C (p.Phe816=)
c.1473T>C (p.Phe491=)
c.2187T>C (p.Phe729=)
c.3165T>C (p.Phe1055=)
n.2983T>C
n.3191T>C
1g.197434893T>GCA344044749CRB1c.3030T>G (p.Phe1010Leu)
c.1911T>G (p.Phe637Leu)
c.1173T>G (p.Phe391Leu)
c.2694T>G (p.Phe898Leu)
c.2958T>G (p.Phe986Leu)
c.2129-707T>G (n.2129-707T>G)
n.3031T>G
n.3239T>G
c.2448T>G (p.Phe816Leu)
c.1473T>G (p.Phe491Leu)
c.2187T>G (p.Phe729Leu)
c.3165T>G (p.Phe1055Leu)
n.2983T>G
n.3191T>G
1g.197434894C>ACA344044761CRB1c.3031C>A (p.Gln1011Lys)
c.1912C>A (p.Gln638Lys)
c.1174C>A (p.Gln392Lys)
c.2695C>A (p.Gln899Lys)
c.2959C>A (p.Gln987Lys)
c.2129-706C>A (n.2129-706C>A)
n.3032C>A
n.3240C>A
c.2449C>A (p.Gln817Lys)
c.1474C>A (p.Gln492Lys)
c.2188C>A (p.Gln730Lys)
c.3166C>A (p.Gln1056Lys)
n.2984C>A
n.3192C>A
1g.197434894C>GCA344044756CRB1c.3031C>G (p.Gln1011Glu)
c.1912C>G (p.Gln638Glu)
c.1174C>G (p.Gln392Glu)
c.2695C>G (p.Gln899Glu)
c.2959C>G (p.Gln987Glu)
c.2129-706C>G (n.2129-706C>G)
n.3032C>G
n.3240C>G
c.2449C>G (p.Gln817Glu)
c.1474C>G (p.Gln492Glu)
c.2188C>G (p.Gln730Glu)
c.3166C>G (p.Gln1056Glu)
n.2984C>G
n.3192C>G
1g.197434894C>TCA344044753CRB1c.3031C>T (p.Gln1011Ter)
c.1912C>T (p.Gln638Ter)
c.1174C>T (p.Gln392Ter)
c.2695C>T (p.Gln899Ter)
c.2959C>T (p.Gln987Ter)
c.2129-706C>T (n.2129-706C>T)
n.3032C>T
n.3240C>T
c.2449C>T (p.Gln817Ter)
c.1474C>T (p.Gln492Ter)
c.2188C>T (p.Gln730Ter)
c.3166C>T (p.Gln1056Ter)
n.2984C>T
n.3192C>T
1g.197434895A>CCA344044762CRB1c.3032A>C (p.Gln1011Pro)
c.1913A>C (p.Gln638Pro)
c.1175A>C (p.Gln392Pro)
c.2696A>C (p.Gln899Pro)
c.2960A>C (p.Gln987Pro)
c.2129-705A>C (n.2129-705A>C)
n.3033A>C
n.3241A>C
c.2450A>C (p.Gln817Pro)
c.1475A>C (p.Gln492Pro)
c.2189A>C (p.Gln730Pro)
c.3167A>C (p.Gln1056Pro)
n.2985A>C
n.3193A>C
1g.197434895A>GCA344044767CRB1c.3032A>G (p.Gln1011Arg)
c.1913A>G (p.Gln638Arg)
c.1175A>G (p.Gln392Arg)
c.2696A>G (p.Gln899Arg)
c.2960A>G (p.Gln987Arg)
c.2129-705A>G (n.2129-705A>G)
n.3033A>G
n.3241A>G
c.2450A>G (p.Gln817Arg)
c.1475A>G (p.Gln492Arg)
c.2189A>G (p.Gln730Arg)
c.3167A>G (p.Gln1056Arg)
n.2985A>G
n.3193A>G
1g.197434895A>TCA344044764CRB1c.3032A>T (p.Gln1011Leu)
c.1913A>T (p.Gln638Leu)
c.1175A>T (p.Gln392Leu)
c.2696A>T (p.Gln899Leu)
c.2960A>T (p.Gln987Leu)
c.2129-705A>T (n.2129-705A>T)
n.3033A>T
n.3241A>T
c.2450A>T (p.Gln817Leu)
c.1475A>T (p.Gln492Leu)
c.2189A>T (p.Gln730Leu)
c.3167A>T (p.Gln1056Leu)
n.2985A>T
n.3193A>T
1g.197434896A>CCA344044772CRB1c.3033A>C (p.Gln1011His)
c.1914A>C (p.Gln638His)
c.1176A>C (p.Gln392His)
c.2697A>C (p.Gln899His)
c.2961A>C (p.Gln987His)
c.2129-704A>C (n.2129-704A>C)
n.3034A>C
n.3242A>C
c.2451A>C (p.Gln817His)
c.1476A>C (p.Gln492His)
c.2190A>C (p.Gln730His)
c.3168A>C (p.Gln1056His)
n.2986A>C
n.3194A>C
1g.197434896A>GCA422808716CRB1c.3033A>G (p.Gln1011=)
c.1914A>G (p.Gln638=)
c.1176A>G (p.Gln392=)
c.2697A>G (p.Gln899=)
c.2961A>G (p.Gln987=)
c.2129-704A>G (n.2129-704A>G)
n.3034A>G
n.3242A>G
c.2451A>G (p.Gln817=)
c.1476A>G (p.Gln492=)
c.2190A>G (p.Gln730=)
c.3168A>G (p.Gln1056=)
n.2986A>G
n.3194A>G
 gnomAD v4
1g.197434896A>TCA344044778CRB1c.3033A>T (p.Gln1011His)
c.1914A>T (p.Gln638His)
c.1176A>T (p.Gln392His)
c.2697A>T (p.Gln899His)
c.2961A>T (p.Gln987His)
c.2129-704A>T (n.2129-704A>T)
n.3034A>T
n.3242A>T
c.2451A>T (p.Gln817His)
c.1476A>T (p.Gln492His)
c.2190A>T (p.Gln730His)
c.3168A>T (p.Gln1056His)
n.2986A>T
n.3194A>T
1g.197434897T>ACA344044783CRB1c.3034T>A (p.Leu1012Met)
c.1915T>A (p.Leu639Met)
c.1177T>A (p.Leu393Met)
c.2698T>A (p.Leu900Met)
c.2962T>A (p.Leu988Met)
c.2129-703T>A (n.2129-703T>A)
n.3035T>A
n.3243T>A
c.2452T>A (p.Leu818Met)
c.1477T>A (p.Leu493Met)
c.2191T>A (p.Leu731Met)
c.3169T>A (p.Leu1057Met)
n.2987T>A
n.3195T>A
1g.197434897T>CCA422808717CRB1c.3034T>C (p.Leu1012=)
c.1915T>C (p.Leu639=)
c.1177T>C (p.Leu393=)
c.2698T>C (p.Leu900=)
c.2962T>C (p.Leu988=)
c.2129-703T>C (n.2129-703T>C)
n.3035T>C
n.3243T>C
c.2452T>C (p.Leu818=)
c.1477T>C (p.Leu493=)
c.2191T>C (p.Leu731=)
c.3169T>C (p.Leu1057=)
n.2987T>C
n.3195T>C
1g.197434897T>GCA344044786CRB1c.3034T>G (p.Leu1012Val)
c.1915T>G (p.Leu639Val)
c.1177T>G (p.Leu393Val)
c.2698T>G (p.Leu900Val)
c.2962T>G (p.Leu988Val)
c.2129-703T>G (n.2129-703T>G)
n.3035T>G
n.3243T>G
c.2452T>G (p.Leu818Val)
c.1477T>G (p.Leu493Val)
c.2191T>G (p.Leu731Val)
c.3169T>G (p.Leu1057Val)
n.2987T>G
n.3195T>G
1g.197434898T>ACA344044787CRB1c.3035T>A (p.Leu1012Ter)
c.1916T>A (p.Leu639Ter)
c.1178T>A (p.Leu393Ter)
c.2699T>A (p.Leu900Ter)
c.2963T>A (p.Leu988Ter)
c.2129-702T>A (n.2129-702T>A)
n.3036T>A
n.3244T>A
c.2453T>A (p.Leu818Ter)
c.1478T>A (p.Leu493Ter)
c.2192T>A (p.Leu731Ter)
c.3170T>A (p.Leu1057Ter)
n.2988T>A
n.3196T>A
1g.197434898T>CCA344044788CRB1c.3035T>C (p.Leu1012Ser)
c.1916T>C (p.Leu639Ser)
c.1178T>C (p.Leu393Ser)
c.2699T>C (p.Leu900Ser)
c.2963T>C (p.Leu988Ser)
c.2129-702T>C (n.2129-702T>C)
n.3036T>C
n.3244T>C
c.2453T>C (p.Leu818Ser)
c.1478T>C (p.Leu493Ser)
c.2192T>C (p.Leu731Ser)
c.3170T>C (p.Leu1057Ser)
n.2988T>C
n.3196T>C
1g.197434898T>GCA344044789CRB1c.3035T>G (p.Leu1012Trp)
c.1916T>G (p.Leu639Trp)
c.1178T>G (p.Leu393Trp)
c.2699T>G (p.Leu900Trp)
c.2963T>G (p.Leu988Trp)
c.2129-702T>G (n.2129-702T>G)
n.3036T>G
n.3244T>G
c.2453T>G (p.Leu818Trp)
c.1478T>G (p.Leu493Trp)
c.2192T>G (p.Leu731Trp)
c.3170T>G (p.Leu1057Trp)
n.2988T>G
n.3196T>G
1g.197434899G>ACA422808718CRB1c.3036G>A (p.Leu1012=)
c.1917G>A (p.Leu639=)
c.1179G>A (p.Leu393=)
c.2700G>A (p.Leu900=)
c.2964G>A (p.Leu988=)
c.2129-701G>A (n.2129-701G>A)
n.3037G>A
n.3245G>A
c.2454G>A (p.Leu818=)
c.1479G>A (p.Leu493=)
c.2193G>A (p.Leu731=)
c.3171G>A (p.Leu1057=)
n.2989G>A
n.3197G>A
 COSMIC COSMIC
1g.197434899G>CCA344044791CRB1c.3036G>C (p.Leu1012Phe)
c.1917G>C (p.Leu639Phe)
c.1179G>C (p.Leu393Phe)
c.2700G>C (p.Leu900Phe)
c.2964G>C (p.Leu988Phe)
c.2129-701G>C (n.2129-701G>C)
n.3037G>C
n.3245G>C
c.2454G>C (p.Leu818Phe)
c.1479G>C (p.Leu493Phe)
c.2193G>C (p.Leu731Phe)
c.3171G>C (p.Leu1057Phe)
n.2989G>C
n.3197G>C
1g.197434899G>TCA344044793CRB1c.3036G>T (p.Leu1012Phe)
c.1917G>T (p.Leu639Phe)
c.1179G>T (p.Leu393Phe)
c.2700G>T (p.Leu900Phe)
c.2964G>T (p.Leu988Phe)
c.2129-701G>T (n.2129-701G>T)
n.3037G>T
n.3245G>T
c.2454G>T (p.Leu818Phe)
c.1479G>T (p.Leu493Phe)
c.2193G>T (p.Leu731Phe)
c.3171G>T (p.Leu1057Phe)
n.2989G>T
n.3197G>T
1g.197434900C>ACA344044800CRB1c.3037C>A (p.Gln1013Lys)
c.1918C>A (p.Gln640Lys)
c.1180C>A (p.Gln394Lys)
c.2701C>A (p.Gln901Lys)
c.2965C>A (p.Gln989Lys)
c.2129-700C>A (n.2129-700C>A)
n.3038C>A
n.3246C>A
c.2455C>A (p.Gln819Lys)
c.1480C>A (p.Gln494Lys)
c.2194C>A (p.Gln732Lys)
c.3172C>A (p.Gln1058Lys)
n.2990C>A
n.3198C>A
1g.197434900C=CA1141934419CRB1c.3037C= (p.Gln1013=)
c.1918C= (p.Gln640=)
c.1180C= (p.Gln394=)
c.2701C= (p.Gln901=)
c.2965C= (p.Gln989=)
c.2129-700C= (n.2129-700C=)
n.3038C=
n.3246C=
c.2455C= (p.Gln819=)
c.1480C= (p.Gln494=)
c.2194C= (p.Gln732=)
c.3172C= (p.Gln1058=)
n.2990C=
n.3198C=
1g.197434900C>GCA344044809CRB1c.3037C>G (p.Gln1013Glu)
c.1918C>G (p.Gln640Glu)
c.1180C>G (p.Gln394Glu)
c.2701C>G (p.Gln901Glu)
c.2965C>G (p.Gln989Glu)
c.2129-700C>G (n.2129-700C>G)
n.3038C>G
n.3246C>G
c.2455C>G (p.Gln819Glu)
c.1480C>G (p.Gln494Glu)
c.2194C>G (p.Gln732Glu)
c.3172C>G (p.Gln1058Glu)
n.2990C>G
n.3198C>G
1g.197434900C>TCA1312264CRB1c.3037C>T (p.Gln1013Ter)
c.1918C>T (p.Gln640Ter)
c.1180C>T (p.Gln394Ter)
c.2701C>T (p.Gln901Ter)
c.2965C>T (p.Gln989Ter)
c.2129-700C>T (n.2129-700C>T)
n.3038C>T
n.3246C>T
c.2455C>T (p.Gln819Ter)
c.1480C>T (p.Gln494Ter)
c.2194C>T (p.Gln732Ter)
c.3172C>T (p.Gln1058Ter)
n.2990C>T
n.3198C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434901A=CA1218068712CRB1c.3038A= (p.Gln1013=)
c.1919A= (p.Gln640=)
c.1181A= (p.Gln394=)
c.2702A= (p.Gln901=)
c.2966A= (p.Gln989=)
c.2129-699A= (n.2129-699A=)
n.3039A=
n.3247A=
c.2456A= (p.Gln819=)
c.1481A= (p.Gln494=)
c.2195A= (p.Gln732=)
c.3173A= (p.Gln1058=)
n.2991A=
n.3199A=
1g.197434901A>CCA10605363CRB1c.3038A>C (p.Gln1013Pro)
c.1919A>C (p.Gln640Pro)
c.1181A>C (p.Gln394Pro)
c.2702A>C (p.Gln901Pro)
c.2966A>C (p.Gln989Pro)
c.2129-699A>C (n.2129-699A>C)
n.3039A>C
n.3247A>C
c.2456A>C (p.Gln819Pro)
c.1481A>C (p.Gln494Pro)
c.2195A>C (p.Gln732Pro)
c.3173A>C (p.Gln1058Pro)
n.2991A>C
n.3199A>C
 ClinVar dbSNP gnomAD v4
1g.197434901A>GCA344044811CRB1c.3038A>G (p.Gln1013Arg)
c.1919A>G (p.Gln640Arg)
c.1181A>G (p.Gln394Arg)
c.2702A>G (p.Gln901Arg)
c.2966A>G (p.Gln989Arg)
c.2129-699A>G (n.2129-699A>G)
n.3039A>G
n.3247A>G
c.2456A>G (p.Gln819Arg)
c.1481A>G (p.Gln494Arg)
c.2195A>G (p.Gln732Arg)
c.3173A>G (p.Gln1058Arg)
n.2991A>G
n.3199A>G
1g.197434901A>TCA344044815CRB1c.3038A>T (p.Gln1013Leu)
c.1919A>T (p.Gln640Leu)
c.1181A>T (p.Gln394Leu)
c.2702A>T (p.Gln901Leu)
c.2966A>T (p.Gln989Leu)
c.2129-699A>T (n.2129-699A>T)
n.3039A>T
n.3247A>T
c.2456A>T (p.Gln819Leu)
c.1481A>T (p.Gln494Leu)
c.2195A>T (p.Gln732Leu)
c.3173A>T (p.Gln1058Leu)
n.2991A>T
n.3199A>T
1g.197434902A>CCA344044833CRB1c.3039A>C (p.Gln1013His)
c.1920A>C (p.Gln640His)
c.1182A>C (p.Gln394His)
c.2703A>C (p.Gln901His)
c.2967A>C (p.Gln989His)
c.2129-698A>C (n.2129-698A>C)
n.3040A>C
n.3248A>C
c.2457A>C (p.Gln819His)
c.1482A>C (p.Gln494His)
c.2196A>C (p.Gln732His)
c.3174A>C (p.Gln1058His)
n.2992A>C
n.3200A>C
1g.197434902A>GCA422808722CRB1c.3039A>G (p.Gln1013=)
c.1920A>G (p.Gln640=)
c.1182A>G (p.Gln394=)
c.2703A>G (p.Gln901=)
c.2967A>G (p.Gln989=)
c.2129-698A>G (n.2129-698A>G)
n.3040A>G
n.3248A>G
c.2457A>G (p.Gln819=)
c.1482A>G (p.Gln494=)
c.2196A>G (p.Gln732=)
c.3174A>G (p.Gln1058=)
n.2992A>G
n.3200A>G
1g.197434902A>TCA344044834CRB1c.3039A>T (p.Gln1013His)
c.1920A>T (p.Gln640His)
c.1182A>T (p.Gln394His)
c.2703A>T (p.Gln901His)
c.2967A>T (p.Gln989His)
c.2129-698A>T (n.2129-698A>T)
n.3040A>T
n.3248A>T
c.2457A>T (p.Gln819His)
c.1482A>T (p.Gln494His)
c.2196A>T (p.Gln732His)
c.3174A>T (p.Gln1058His)
n.2992A>T
n.3200A>T
1g.197434903A>CCA344044835CRB1c.3040A>C (p.Ser1014Arg)
c.1921A>C (p.Ser641Arg)
c.1183A>C (p.Ser395Arg)
c.2704A>C (p.Ser902Arg)
c.2968A>C (p.Ser990Arg)
c.2129-697A>C (n.2129-697A>C)
n.3041A>C
n.3249A>C
c.2458A>C (p.Ser820Arg)
c.1483A>C (p.Ser495Arg)
c.2197A>C (p.Ser733Arg)
c.3175A>C (p.Ser1059Arg)
n.2993A>C
n.3201A>C
1g.197434903A>GCA344044836CRB1c.3040A>G (p.Ser1014Gly)
c.1921A>G (p.Ser641Gly)
c.1183A>G (p.Ser395Gly)
c.2704A>G (p.Ser902Gly)
c.2968A>G (p.Ser990Gly)
c.2129-697A>G (n.2129-697A>G)
n.3041A>G
n.3249A>G
c.2458A>G (p.Ser820Gly)
c.1483A>G (p.Ser495Gly)
c.2197A>G (p.Ser733Gly)
c.3175A>G (p.Ser1059Gly)
n.2993A>G
n.3201A>G
1g.197434903A>TCA344044838CRB1c.3040A>T (p.Ser1014Cys)
c.1921A>T (p.Ser641Cys)
c.1183A>T (p.Ser395Cys)
c.2704A>T (p.Ser902Cys)
c.2968A>T (p.Ser990Cys)
c.2129-697A>T (n.2129-697A>T)
n.3041A>T
n.3249A>T
c.2458A>T (p.Ser820Cys)
c.1483A>T (p.Ser495Cys)
c.2197A>T (p.Ser733Cys)
c.3175A>T (p.Ser1059Cys)
n.2993A>T
n.3201A>T
1g.197434904G>ACA1312265CRB1c.3041G>A (p.Ser1014Asn)
c.1922G>A (p.Ser641Asn)
c.1184G>A (p.Ser395Asn)
c.2705G>A (p.Ser902Asn)
c.2969G>A (p.Ser990Asn)
c.2129-696G>A (n.2129-696G>A)
n.3042G>A
n.3250G>A
c.2459G>A (p.Ser820Asn)
c.1484G>A (p.Ser495Asn)
c.2198G>A (p.Ser733Asn)
c.3176G>A (p.Ser1059Asn)
n.2994G>A
n.3202G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434904G>CCA344044844CRB1c.3041G>C (p.Ser1014Thr)
c.1922G>C (p.Ser641Thr)
c.1184G>C (p.Ser395Thr)
c.2705G>C (p.Ser902Thr)
c.2969G>C (p.Ser990Thr)
c.2129-696G>C (n.2129-696G>C)
n.3042G>C
n.3250G>C
c.2459G>C (p.Ser820Thr)
c.1484G>C (p.Ser495Thr)
c.2198G>C (p.Ser733Thr)
c.3176G>C (p.Ser1059Thr)
n.2994G>C
n.3202G>C
1g.197434904G=CA1145283285CRB1c.3041G= (p.Ser1014=)
c.1922G= (p.Ser641=)
c.1184G= (p.Ser395=)
c.2705G= (p.Ser902=)
c.2969G= (p.Ser990=)
c.2129-696G= (n.2129-696G=)
n.3042G=
n.3250G=
c.2459G= (p.Ser820=)
c.1484G= (p.Ser495=)
c.2198G= (p.Ser733=)
c.3176G= (p.Ser1059=)
n.2994G=
n.3202G=
1g.197434904G>TCA344044847CRB1c.3041G>T (p.Ser1014Ile)
c.1922G>T (p.Ser641Ile)
c.1184G>T (p.Ser395Ile)
c.2705G>T (p.Ser902Ile)
c.2969G>T (p.Ser990Ile)
c.2129-696G>T (n.2129-696G>T)
n.3042G>T
n.3250G>T
c.2459G>T (p.Ser820Ile)
c.1484G>T (p.Ser495Ile)
c.2198G>T (p.Ser733Ile)
c.3176G>T (p.Ser1059Ile)
n.2994G>T
n.3202G>T
1g.197434905T>ACA344044859CRB1c.3042T>A (p.Ser1014Arg)
c.1923T>A (p.Ser641Arg)
c.1185T>A (p.Ser395Arg)
c.2706T>A (p.Ser902Arg)
c.2970T>A (p.Ser990Arg)
c.2129-695T>A (n.2129-695T>A)
n.3043T>A
n.3251T>A
c.2460T>A (p.Ser820Arg)
c.1485T>A (p.Ser495Arg)
c.2199T>A (p.Ser733Arg)
c.3177T>A (p.Ser1059Arg)
n.2995T>A
n.3203T>A
1g.197434905T>CCA1312266CRB1c.3042T>C (p.Ser1014=)
c.1923T>C (p.Ser641=)
c.1185T>C (p.Ser395=)
c.2706T>C (p.Ser902=)
c.2970T>C (p.Ser990=)
c.2129-695T>C (n.2129-695T>C)
n.3043T>C
n.3251T>C
c.2460T>C (p.Ser820=)
c.1485T>C (p.Ser495=)
c.2199T>C (p.Ser733=)
c.3177T>C (p.Ser1059=)
n.2995T>C
n.3203T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434905T>GCA344044868CRB1c.3042T>G (p.Ser1014Arg)
c.1923T>G (p.Ser641Arg)
c.1185T>G (p.Ser395Arg)
c.2706T>G (p.Ser902Arg)
c.2970T>G (p.Ser990Arg)
c.2129-695T>G (n.2129-695T>G)
n.3043T>G
n.3251T>G
c.2460T>G (p.Ser820Arg)
c.1485T>G (p.Ser495Arg)
c.2199T>G (p.Ser733Arg)
c.3177T>G (p.Ser1059Arg)
n.2995T>G
n.3203T>G
1g.197434905T=CA1143993964CRB1c.3042T= (p.Ser1014=)
c.1923T= (p.Ser641=)
c.1185T= (p.Ser395=)
c.2706T= (p.Ser902=)
c.2970T= (p.Ser990=)
c.2129-695T= (n.2129-695T=)
n.3043T=
n.3251T=
c.2460T= (p.Ser820=)
c.1485T= (p.Ser495=)
c.2199T= (p.Ser733=)
c.3177T= (p.Ser1059=)
n.2995T=
n.3203T=
1g.197434906G>ACA344044882CRB1c.3043G>A (p.Gly1015Ser)
c.1924G>A (p.Gly642Ser)
c.1186G>A (p.Gly396Ser)
c.2707G>A (p.Gly903Ser)
c.2971G>A (p.Gly991Ser)
c.2129-694G>A (n.2129-694G>A)
n.3044G>A
n.3252G>A
c.2461G>A (p.Gly821Ser)
c.1486G>A (p.Gly496Ser)
c.2200G>A (p.Gly734Ser)
c.3178G>A (p.Gly1060Ser)
n.2996G>A
n.3204G>A
1g.197434906G>CCA344044881CRB1c.3043G>C (p.Gly1015Arg)
c.1924G>C (p.Gly642Arg)
c.1186G>C (p.Gly396Arg)
c.2707G>C (p.Gly903Arg)
c.2971G>C (p.Gly991Arg)
c.2129-694G>C (n.2129-694G>C)
n.3044G>C
n.3252G>C
c.2461G>C (p.Gly821Arg)
c.1486G>C (p.Gly496Arg)
c.2200G>C (p.Gly734Arg)
c.3178G>C (p.Gly1060Arg)
n.2996G>C
n.3204G>C
1g.197434906G>TCA344044877CRB1c.3043G>T (p.Gly1015Cys)
c.1924G>T (p.Gly642Cys)
c.1186G>T (p.Gly396Cys)
c.2707G>T (p.Gly903Cys)
c.2971G>T (p.Gly991Cys)
c.2129-694G>T (n.2129-694G>T)
n.3044G>T
n.3252G>T
c.2461G>T (p.Gly821Cys)
c.1486G>T (p.Gly496Cys)
c.2200G>T (p.Gly734Cys)
c.3178G>T (p.Gly1060Cys)
n.2996G>T
n.3204G>T
1g.197434907G>ACA344044883CRB1c.3044G>A (p.Gly1015Asp)
c.1925G>A (p.Gly642Asp)
c.1187G>A (p.Gly396Asp)
c.2708G>A (p.Gly903Asp)
c.2972G>A (p.Gly991Asp)
c.2129-693G>A (n.2129-693G>A)
n.3045G>A
n.3253G>A
c.2462G>A (p.Gly821Asp)
c.1487G>A (p.Gly496Asp)
c.2201G>A (p.Gly734Asp)
c.3179G>A (p.Gly1060Asp)
n.2997G>A
n.3205G>A
 dbSNP gnomAD v4
1g.197434907G>CCA344044885CRB1c.3044G>C (p.Gly1015Ala)
c.1925G>C (p.Gly642Ala)
c.1187G>C (p.Gly396Ala)
c.2708G>C (p.Gly903Ala)
c.2972G>C (p.Gly991Ala)
c.2129-693G>C (n.2129-693G>C)
n.3045G>C
n.3253G>C
c.2462G>C (p.Gly821Ala)
c.1487G>C (p.Gly496Ala)
c.2201G>C (p.Gly734Ala)
c.3179G>C (p.Gly1060Ala)
n.2997G>C
n.3205G>C
1g.197434907G=CA1218068713CRB1c.3044G= (p.Gly1015=)
c.1925G= (p.Gly642=)
c.1187G= (p.Gly396=)
c.2708G= (p.Gly903=)
c.2972G= (p.Gly991=)
c.2129-693G= (n.2129-693G=)
n.3045G=
n.3253G=
c.2462G= (p.Gly821=)
c.1487G= (p.Gly496=)
c.2201G= (p.Gly734=)
c.3179G= (p.Gly1060=)
n.2997G=
n.3205G=
1g.197434907G>TCA344044888CRB1c.3044G>T (p.Gly1015Val)
c.1925G>T (p.Gly642Val)
c.1187G>T (p.Gly396Val)
c.2708G>T (p.Gly903Val)
c.2972G>T (p.Gly991Val)
c.2129-693G>T (n.2129-693G>T)
n.3045G>T
n.3253G>T
c.2462G>T (p.Gly821Val)
c.1487G>T (p.Gly496Val)
c.2201G>T (p.Gly734Val)
c.3179G>T (p.Gly1060Val)
n.2997G>T
n.3205G>T
1g.197434908C>ACA422808726CRB1c.3045C>A (p.Gly1015=)
c.1926C>A (p.Gly642=)
c.1188C>A (p.Gly396=)
c.2709C>A (p.Gly903=)
c.2973C>A (p.Gly991=)
c.2129-692C>A (n.2129-692C>A)
n.3046C>A
n.3254C>A
c.2463C>A (p.Gly821=)
c.1488C>A (p.Gly496=)
c.2202C>A (p.Gly734=)
c.3180C>A (p.Gly1060=)
n.2998C>A
n.3206C>A
1g.197434908C=CA1218068714CRB1c.3045C= (p.Gly1015=)
c.1926C= (p.Gly642=)
c.1188C= (p.Gly396=)
c.2709C= (p.Gly903=)
c.2973C= (p.Gly991=)
c.2129-692C= (n.2129-692C=)
n.3046C=
n.3254C=
c.2463C= (p.Gly821=)
c.1488C= (p.Gly496=)
c.2202C= (p.Gly734=)
c.3180C= (p.Gly1060=)
n.2998C=
n.3206C=
1g.197434908C>GCA422808727CRB1c.3045C>G (p.Gly1015=)
c.1926C>G (p.Gly642=)
c.1188C>G (p.Gly396=)
c.2709C>G (p.Gly903=)
c.2973C>G (p.Gly991=)
c.2129-692C>G (n.2129-692C>G)
n.3046C>G
n.3254C>G
c.2463C>G (p.Gly821=)
c.1488C>G (p.Gly496=)
c.2202C>G (p.Gly734=)
c.3180C>G (p.Gly1060=)
n.2998C>G
n.3206C>G
1g.197434908C>TCA35906883CRB1c.3045C>T (p.Gly1015=)
c.1926C>T (p.Gly642=)
c.1188C>T (p.Gly396=)
c.2709C>T (p.Gly903=)
c.2973C>T (p.Gly991=)
c.2129-692C>T (n.2129-692C>T)
n.3046C>T
n.3254C>T
c.2463C>T (p.Gly821=)
c.1488C>T (p.Gly496=)
c.2202C>T (p.Gly734=)
c.3180C>T (p.Gly1060=)
n.2998C>T
n.3206C>T
 dbSNP gnomAD v3 gnomAD v4
1g.197434909A>CCA344044891CRB1c.3046A>C (p.Asn1016His)
c.1927A>C (p.Asn643His)
c.1189A>C (p.Asn397His)
c.2710A>C (p.Asn904His)
c.2974A>C (p.Asn992His)
c.2129-691A>C (n.2129-691A>C)
n.3047A>C
n.3255A>C
c.2464A>C (p.Asn822His)
c.1489A>C (p.Asn497His)
c.2203A>C (p.Asn735His)
c.3181A>C (p.Asn1061His)
n.2999A>C
n.3207A>C
1g.197434909A>GCA344044893CRB1c.3046A>G (p.Asn1016Asp)
c.1927A>G (p.Asn643Asp)
c.1189A>G (p.Asn397Asp)
c.2710A>G (p.Asn904Asp)
c.2974A>G (p.Asn992Asp)
c.2129-691A>G (n.2129-691A>G)
n.3047A>G
n.3255A>G
c.2464A>G (p.Asn822Asp)
c.1489A>G (p.Asn497Asp)
c.2203A>G (p.Asn735Asp)
c.3181A>G (p.Asn1061Asp)
n.2999A>G
n.3207A>G
1g.197434909A>TCA344044902CRB1c.3046A>T (p.Asn1016Tyr)
c.1927A>T (p.Asn643Tyr)
c.1189A>T (p.Asn397Tyr)
c.2710A>T (p.Asn904Tyr)
c.2974A>T (p.Asn992Tyr)
c.2129-691A>T (n.2129-691A>T)
n.3047A>T
n.3255A>T
c.2464A>T (p.Asn822Tyr)
c.1489A>T (p.Asn497Tyr)
c.2203A>T (p.Asn735Tyr)
c.3181A>T (p.Asn1061Tyr)
n.2999A>T
n.3207A>T
1g.197434910A>CCA344044910CRB1c.3047A>C (p.Asn1016Thr)
c.1928A>C (p.Asn643Thr)
c.1190A>C (p.Asn397Thr)
c.2711A>C (p.Asn904Thr)
c.2975A>C (p.Asn992Thr)
c.2129-690A>C (n.2129-690A>C)
n.3048A>C
n.3256A>C
c.2465A>C (p.Asn822Thr)
c.1490A>C (p.Asn497Thr)
c.2204A>C (p.Asn735Thr)
c.3182A>C (p.Asn1061Thr)
n.3000A>C
n.3208A>C
1g.197434910A>GCA344044907CRB1c.3047A>G (p.Asn1016Ser)
c.1928A>G (p.Asn643Ser)
c.1190A>G (p.Asn397Ser)
c.2711A>G (p.Asn904Ser)
c.2975A>G (p.Asn992Ser)
c.2129-690A>G (n.2129-690A>G)
n.3048A>G
n.3256A>G
c.2465A>G (p.Asn822Ser)
c.1490A>G (p.Asn497Ser)
c.2204A>G (p.Asn735Ser)
c.3182A>G (p.Asn1061Ser)
n.3000A>G
n.3208A>G
1g.197434910A>TCA344044908CRB1c.3047A>T (p.Asn1016Ile)
c.1928A>T (p.Asn643Ile)
c.1190A>T (p.Asn397Ile)
c.2711A>T (p.Asn904Ile)
c.2975A>T (p.Asn992Ile)
c.2129-690A>T (n.2129-690A>T)
n.3048A>T
n.3256A>T
c.2465A>T (p.Asn822Ile)
c.1490A>T (p.Asn497Ile)
c.2204A>T (p.Asn735Ile)
c.3182A>T (p.Asn1061Ile)
n.3000A>T
n.3208A>T
1g.197434911C>ACA344044915CRB1c.3048C>A (p.Asn1016Lys)
c.1929C>A (p.Asn643Lys)
c.1191C>A (p.Asn397Lys)
c.2712C>A (p.Asn904Lys)
c.2976C>A (p.Asn992Lys)
c.2129-689C>A (n.2129-689C>A)
n.3049C>A
n.3257C>A
c.2466C>A (p.Asn822Lys)
c.1491C>A (p.Asn497Lys)
c.2205C>A (p.Asn735Lys)
c.3183C>A (p.Asn1061Lys)
n.3001C>A
n.3209C>A
1g.197434911C>GCA344044917CRB1c.3048C>G (p.Asn1016Lys)
c.1929C>G (p.Asn643Lys)
c.1191C>G (p.Asn397Lys)
c.2712C>G (p.Asn904Lys)
c.2976C>G (p.Asn992Lys)
c.2129-689C>G (n.2129-689C>G)
n.3049C>G
n.3257C>G
c.2466C>G (p.Asn822Lys)
c.1491C>G (p.Asn497Lys)
c.2205C>G (p.Asn735Lys)
c.3183C>G (p.Asn1061Lys)
n.3001C>G
n.3209C>G
1g.197434911C>TCA422808730CRB1c.3048C>T (p.Asn1016=)
c.1929C>T (p.Asn643=)
c.1191C>T (p.Asn397=)
c.2712C>T (p.Asn904=)
c.2976C>T (p.Asn992=)
c.2129-689C>T (n.2129-689C>T)
n.3049C>T
n.3257C>T
c.2466C>T (p.Asn822=)
c.1491C>T (p.Asn497=)
c.2205C>T (p.Asn735=)
c.3183C>T (p.Asn1061=)
n.3001C>T
n.3209C>T
 ClinVar dbSNP gnomAD v4
1g.197434912A>CCA344044919CRB1c.3049A>C (p.Ser1017Arg)
c.1930A>C (p.Ser644Arg)
c.1192A>C (p.Ser398Arg)
c.2713A>C (p.Ser905Arg)
c.2977A>C (p.Ser993Arg)
c.2129-688A>C (n.2129-688A>C)
n.3050A>C
n.3258A>C
c.2467A>C (p.Ser823Arg)
c.1492A>C (p.Ser498Arg)
c.2206A>C (p.Ser736Arg)
c.3184A>C (p.Ser1062Arg)
n.3002A>C
n.3210A>C
1g.197434912A>GCA344044929CRB1c.3049A>G (p.Ser1017Gly)
c.1930A>G (p.Ser644Gly)
c.1192A>G (p.Ser398Gly)
c.2713A>G (p.Ser905Gly)
c.2977A>G (p.Ser993Gly)
c.2129-688A>G (n.2129-688A>G)
n.3050A>G
n.3258A>G
c.2467A>G (p.Ser823Gly)
c.1492A>G (p.Ser498Gly)
c.2206A>G (p.Ser736Gly)
c.3184A>G (p.Ser1062Gly)
n.3002A>G
n.3210A>G
 ClinVar dbSNP
1g.197434912A>TCA344044931CRB1c.3049A>T (p.Ser1017Cys)
c.1930A>T (p.Ser644Cys)
c.1192A>T (p.Ser398Cys)
c.2713A>T (p.Ser905Cys)
c.2977A>T (p.Ser993Cys)
c.2129-688A>T (n.2129-688A>T)
n.3050A>T
n.3258A>T
c.2467A>T (p.Ser823Cys)
c.1492A>T (p.Ser498Cys)
c.2206A>T (p.Ser736Cys)
c.3184A>T (p.Ser1062Cys)
n.3002A>T
n.3210A>T
1g.197434913G>ACA344044940CRB1c.3050G>A (p.Ser1017Asn)
c.1931G>A (p.Ser644Asn)
c.1193G>A (p.Ser398Asn)
c.2714G>A (p.Ser905Asn)
c.2978G>A (p.Ser993Asn)
c.2129-687G>A (n.2129-687G>A)
n.3051G>A
n.3259G>A
c.2468G>A (p.Ser823Asn)
c.1493G>A (p.Ser498Asn)
c.2207G>A (p.Ser736Asn)
c.3185G>A (p.Ser1062Asn)
n.3003G>A
n.3211G>A
1g.197434913G>CCA344044957CRB1c.3050G>C (p.Ser1017Thr)
c.1931G>C (p.Ser644Thr)
c.1193G>C (p.Ser398Thr)
c.2714G>C (p.Ser905Thr)
c.2978G>C (p.Ser993Thr)
c.2129-687G>C (n.2129-687G>C)
n.3051G>C
n.3259G>C
c.2468G>C (p.Ser823Thr)
c.1493G>C (p.Ser498Thr)
c.2207G>C (p.Ser736Thr)
c.3185G>C (p.Ser1062Thr)
n.3003G>C
n.3211G>C
1g.197434913G>TCA344044948CRB1c.3050G>T (p.Ser1017Ile)
c.1931G>T (p.Ser644Ile)
c.1193G>T (p.Ser398Ile)
c.2714G>T (p.Ser905Ile)
c.2978G>T (p.Ser993Ile)
c.2129-687G>T (n.2129-687G>T)
n.3051G>T
n.3259G>T
c.2468G>T (p.Ser823Ile)
c.1493G>T (p.Ser498Ile)
c.2207G>T (p.Ser736Ile)
c.3185G>T (p.Ser1062Ile)
n.3003G>T
n.3211G>T
1g.197434914C>ACA344044962CRB1c.3051C>A (p.Ser1017Arg)
c.1932C>A (p.Ser644Arg)
c.1194C>A (p.Ser398Arg)
c.2715C>A (p.Ser905Arg)
c.2979C>A (p.Ser993Arg)
c.2129-686C>A (n.2129-686C>A)
n.3052C>A
n.3260C>A
c.2469C>A (p.Ser823Arg)
c.1494C>A (p.Ser498Arg)
c.2208C>A (p.Ser736Arg)
c.3186C>A (p.Ser1062Arg)
n.3004C>A
n.3212C>A
1g.197434914C>GCA344044976CRB1c.3051C>G (p.Ser1017Arg)
c.1932C>G (p.Ser644Arg)
c.1194C>G (p.Ser398Arg)
c.2715C>G (p.Ser905Arg)
c.2979C>G (p.Ser993Arg)
c.2129-686C>G (n.2129-686C>G)
n.3052C>G
n.3260C>G
c.2469C>G (p.Ser823Arg)
c.1494C>G (p.Ser498Arg)
c.2208C>G (p.Ser736Arg)
c.3186C>G (p.Ser1062Arg)
n.3004C>G
n.3212C>G
1g.197434914C>TCA422808733CRB1c.3051C>T (p.Ser1017=)
c.1932C>T (p.Ser644=)
c.1194C>T (p.Ser398=)
c.2715C>T (p.Ser905=)
c.2979C>T (p.Ser993=)
c.2129-686C>T (n.2129-686C>T)
n.3052C>T
n.3260C>T
c.2469C>T (p.Ser823=)
c.1494C>T (p.Ser498=)
c.2208C>T (p.Ser736=)
c.3186C>T (p.Ser1062=)
n.3004C>T
n.3212C>T
 ClinVar gnomAD v4 COSMIC
1g.197434915T>ACA344044980CRB1c.3052T>A (p.Phe1018Ile)
c.1933T>A (p.Phe645Ile)
c.1195T>A (p.Phe399Ile)
c.2716T>A (p.Phe906Ile)
c.2980T>A (p.Phe994Ile)
c.2129-685T>A (n.2129-685T>A)
n.3053T>A
n.3261T>A
c.2470T>A (p.Phe824Ile)
c.1495T>A (p.Phe499Ile)
c.2209T>A (p.Phe737Ile)
c.3187T>A (p.Phe1063Ile)
n.3005T>A
n.3213T>A
1g.197434915T>CCA344044995CRB1c.3052T>C (p.Phe1018Leu)
c.1933T>C (p.Phe645Leu)
c.1195T>C (p.Phe399Leu)
c.2716T>C (p.Phe906Leu)
c.2980T>C (p.Phe994Leu)
c.2129-685T>C (n.2129-685T>C)
n.3053T>C
n.3261T>C
c.2470T>C (p.Phe824Leu)
c.1495T>C (p.Phe499Leu)
c.2209T>C (p.Phe737Leu)
c.3187T>C (p.Phe1063Leu)
n.3005T>C
n.3213T>C
 COSMIC COSMIC
1g.197434915T>GCA344044997CRB1c.3052T>G (p.Phe1018Val)
c.1933T>G (p.Phe645Val)
c.1195T>G (p.Phe399Val)
c.2716T>G (p.Phe906Val)
c.2980T>G (p.Phe994Val)
c.2129-685T>G (n.2129-685T>G)
n.3053T>G
n.3261T>G
c.2470T>G (p.Phe824Val)
c.1495T>G (p.Phe499Val)
c.2209T>G (p.Phe737Val)
c.3187T>G (p.Phe1063Val)
n.3005T>G
n.3213T>G
1g.197434916T>ACA344045013CRB1c.3053T>A (p.Phe1018Tyr)
c.1934T>A (p.Phe645Tyr)
c.1196T>A (p.Phe399Tyr)
c.2717T>A (p.Phe906Tyr)
c.2981T>A (p.Phe994Tyr)
c.2129-684T>A (n.2129-684T>A)
n.3054T>A
n.3262T>A
c.2471T>A (p.Phe824Tyr)
c.1496T>A (p.Phe499Tyr)
c.2210T>A (p.Phe737Tyr)
c.3188T>A (p.Phe1063Tyr)
n.3006T>A
n.3214T>A
1g.197434916T>CCA344045017CRB1c.3053T>C (p.Phe1018Ser)
c.1934T>C (p.Phe645Ser)
c.1196T>C (p.Phe399Ser)
c.2717T>C (p.Phe906Ser)
c.2981T>C (p.Phe994Ser)
c.2129-684T>C (n.2129-684T>C)
n.3054T>C
n.3262T>C
c.2471T>C (p.Phe824Ser)
c.1496T>C (p.Phe499Ser)
c.2210T>C (p.Phe737Ser)
c.3188T>C (p.Phe1063Ser)
n.3006T>C
n.3214T>C
 gnomAD v4
1g.197434916T>GCA344045023CRB1c.3053T>G (p.Phe1018Cys)
c.1934T>G (p.Phe645Cys)
c.1196T>G (p.Phe399Cys)
c.2717T>G (p.Phe906Cys)
c.2981T>G (p.Phe994Cys)
c.2129-684T>G (n.2129-684T>G)
n.3054T>G
n.3262T>G
c.2471T>G (p.Phe824Cys)
c.1496T>G (p.Phe499Cys)
c.2210T>G (p.Phe737Cys)
c.3188T>G (p.Phe1063Cys)
n.3006T>G
n.3214T>G
 dbSNP gnomAD v4
1g.197434916T=CA1218068715CRB1c.3053T= (p.Phe1018=)
c.1934T= (p.Phe645=)
c.1196T= (p.Phe399=)
c.2717T= (p.Phe906=)
c.2981T= (p.Phe994=)
c.2129-684T= (n.2129-684T=)
n.3054T=
n.3262T=
c.2471T= (p.Phe824=)
c.1496T= (p.Phe499=)
c.2210T= (p.Phe737=)
c.3188T= (p.Phe1063=)
n.3006T=
n.3214T=
1g.197434917T>ACA344045027CRB1c.3054T>A (p.Phe1018Leu)
c.1935T>A (p.Phe645Leu)
c.1197T>A (p.Phe399Leu)
c.2718T>A (p.Phe906Leu)
c.2982T>A (p.Phe994Leu)
c.2129-683T>A (n.2129-683T>A)
n.3055T>A
n.3263T>A
c.2472T>A (p.Phe824Leu)
c.1497T>A (p.Phe499Leu)
c.2211T>A (p.Phe737Leu)
c.3189T>A (p.Phe1063Leu)
n.3007T>A
n.3215T>A
1g.197434917T>CCA35906890CRB1c.3054T>C (p.Phe1018=)
c.1935T>C (p.Phe645=)
c.1197T>C (p.Phe399=)
c.2718T>C (p.Phe906=)
c.2982T>C (p.Phe994=)
c.2129-683T>C (n.2129-683T>C)
n.3055T>C
n.3263T>C
c.2472T>C (p.Phe824=)
c.1497T>C (p.Phe499=)
c.2211T>C (p.Phe737=)
c.3189T>C (p.Phe1063=)
n.3007T>C
n.3215T>C
 ClinVar dbSNP gnomAD v4
1g.197434917T>GCA344045033CRB1c.3054T>G (p.Phe1018Leu)
c.1935T>G (p.Phe645Leu)
c.1197T>G (p.Phe399Leu)
c.2718T>G (p.Phe906Leu)
c.2982T>G (p.Phe994Leu)
c.2129-683T>G (n.2129-683T>G)
n.3055T>G
n.3263T>G
c.2472T>G (p.Phe824Leu)
c.1497T>G (p.Phe499Leu)
c.2211T>G (p.Phe737Leu)
c.3189T>G (p.Phe1063Leu)
n.3007T>G
n.3215T>G
1g.197434917T=CA1218068716CRB1c.3054T= (p.Phe1018=)
c.1935T= (p.Phe645=)
c.1197T= (p.Phe399=)
c.2718T= (p.Phe906=)
c.2982T= (p.Phe994=)
c.2129-683T= (n.2129-683T=)
n.3055T=
n.3263T=
c.2472T= (p.Phe824=)
c.1497T= (p.Phe499=)
c.2211T= (p.Phe737=)
c.3189T= (p.Phe1063=)
n.3007T=
n.3215T=
1g.197434918_197434922dupCA2586967864CRB1c.3055_3059dup (p.Met1020IlefsTer4)
c.1936_1940dup (p.Met647IlefsTer4)
c.1198_1202dup (p.Met401IlefsTer4)
c.2719_2723dup (p.Met908IlefsTer4)
c.2983_2987dup (p.Met996IlefsTer4)
c.2129-682_2129-678dup (n.2129-682_2129-678dup)
n.3056_3060dup
n.3264_3268dup
c.2473_2477dup (p.Met826IlefsTer4)
c.1498_1502dup (p.Met501IlefsTer4)
c.2212_2216dup (p.Met739IlefsTer4)
c.3190_3194dup (p.Met1065IlefsTer4)
n.3008_3012dup
n.3216_3220dup
 ClinVar
1g.197434918T>ACA344045037CRB1c.3055T>A (p.Tyr1019Asn)
c.1936T>A (p.Tyr646Asn)
c.1198T>A (p.Tyr400Asn)
c.2719T>A (p.Tyr907Asn)
c.2983T>A (p.Tyr995Asn)
c.2129-682T>A (n.2129-682T>A)
n.3056T>A
n.3264T>A
c.2473T>A (p.Tyr825Asn)
c.1498T>A (p.Tyr500Asn)
c.2212T>A (p.Tyr738Asn)
c.3190T>A (p.Tyr1064Asn)
n.3008T>A
n.3216T>A
1g.197434918T>CCA344045036CRB1c.3055T>C (p.Tyr1019His)
c.1936T>C (p.Tyr646His)
c.1198T>C (p.Tyr400His)
c.2719T>C (p.Tyr907His)
c.2983T>C (p.Tyr995His)
c.2129-682T>C (n.2129-682T>C)
n.3056T>C
n.3264T>C
c.2473T>C (p.Tyr825His)
c.1498T>C (p.Tyr500His)
c.2212T>C (p.Tyr738His)
c.3190T>C (p.Tyr1064His)
n.3008T>C
n.3216T>C
1g.197434918T>GCA344045035CRB1c.3055T>G (p.Tyr1019Asp)
c.1936T>G (p.Tyr646Asp)
c.1198T>G (p.Tyr400Asp)
c.2719T>G (p.Tyr907Asp)
c.2983T>G (p.Tyr995Asp)
c.2129-682T>G (n.2129-682T>G)
n.3056T>G
n.3264T>G
c.2473T>G (p.Tyr825Asp)
c.1498T>G (p.Tyr500Asp)
c.2212T>G (p.Tyr738Asp)
c.3190T>G (p.Tyr1064Asp)
n.3008T>G
n.3216T>G
1g.197434919A=CA1218068717CRB1c.3056A= (p.Tyr1019=)
c.1937A= (p.Tyr646=)
c.1199A= (p.Tyr400=)
c.2720A= (p.Tyr907=)
c.2984A= (p.Tyr995=)
c.2129-681A= (n.2129-681A=)
n.3057A=
n.3265A=
c.2474A= (p.Tyr825=)
c.1499A= (p.Tyr500=)
c.2213A= (p.Tyr738=)
c.3191A= (p.Tyr1064=)
n.3009A=
n.3217A=
1g.197434919A>CCA344045038CRB1c.3056A>C (p.Tyr1019Ser)
c.1937A>C (p.Tyr646Ser)
c.1199A>C (p.Tyr400Ser)
c.2720A>C (p.Tyr907Ser)
c.2984A>C (p.Tyr995Ser)
c.2129-681A>C (n.2129-681A>C)
n.3057A>C
n.3265A>C
c.2474A>C (p.Tyr825Ser)
c.1499A>C (p.Tyr500Ser)
c.2213A>C (p.Tyr738Ser)
c.3191A>C (p.Tyr1064Ser)
n.3009A>C
n.3217A>C
1g.197434919A>GCA344045044CRB1c.3056A>G (p.Tyr1019Cys)
c.1937A>G (p.Tyr646Cys)
c.1199A>G (p.Tyr400Cys)
c.2720A>G (p.Tyr907Cys)
c.2984A>G (p.Tyr995Cys)
c.2129-681A>G (n.2129-681A>G)
n.3057A>G
n.3265A>G
c.2474A>G (p.Tyr825Cys)
c.1499A>G (p.Tyr500Cys)
c.2213A>G (p.Tyr738Cys)
c.3191A>G (p.Tyr1064Cys)
n.3009A>G
n.3217A>G
1g.197434919A>TCA344045040CRB1c.3056A>T (p.Tyr1019Phe)
c.1937A>T (p.Tyr646Phe)
c.1199A>T (p.Tyr400Phe)
c.2720A>T (p.Tyr907Phe)
c.2984A>T (p.Tyr995Phe)
c.2129-681A>T (n.2129-681A>T)
n.3057A>T
n.3265A>T
c.2474A>T (p.Tyr825Phe)
c.1499A>T (p.Tyr500Phe)
c.2213A>T (p.Tyr738Phe)
c.3191A>T (p.Tyr1064Phe)
n.3009A>T
n.3217A>T
 dbSNP
1g.197434920T>ACA344045048CRB1c.3057T>A (p.Tyr1019Ter)
c.1938T>A (p.Tyr646Ter)
c.1200T>A (p.Tyr400Ter)
c.2721T>A (p.Tyr907Ter)
c.2985T>A (p.Tyr995Ter)
c.2129-680T>A (n.2129-680T>A)
n.3058T>A
n.3266T>A
c.2475T>A (p.Tyr825Ter)
c.1500T>A (p.Tyr500Ter)
c.2214T>A (p.Tyr738Ter)
c.3192T>A (p.Tyr1064Ter)
n.3010T>A
n.3218T>A
 gnomAD v4
1g.197434920T>CCA422808736CRB1c.3057T>C (p.Tyr1019=)
c.1938T>C (p.Tyr646=)
c.1200T>C (p.Tyr400=)
c.2721T>C (p.Tyr907=)
c.2985T>C (p.Tyr995=)
c.2129-680T>C (n.2129-680T>C)
n.3058T>C
n.3266T>C
c.2475T>C (p.Tyr825=)
c.1500T>C (p.Tyr500=)
c.2214T>C (p.Tyr738=)
c.3192T>C (p.Tyr1064=)
n.3010T>C
n.3218T>C
 gnomAD v4
1g.197434920T>GCA344045051CRB1c.3057T>G (p.Tyr1019Ter)
c.1938T>G (p.Tyr646Ter)
c.1200T>G (p.Tyr400Ter)
c.2721T>G (p.Tyr907Ter)
c.2985T>G (p.Tyr995Ter)
c.2129-680T>G (n.2129-680T>G)
n.3058T>G
n.3266T>G
c.2475T>G (p.Tyr825Ter)
c.1500T>G (p.Tyr500Ter)
c.2214T>G (p.Tyr738Ter)
c.3192T>G (p.Tyr1064Ter)
n.3010T>G
n.3218T>G
1g.197434921A=CA1144215017CRB1c.3058A= (p.Met1020=)
c.1939A= (p.Met647=)
c.1201A= (p.Met401=)
c.2722A= (p.Met908=)
c.2986A= (p.Met996=)
c.2129-679A= (n.2129-679A=)
n.3059A=
n.3267A=
c.2476A= (p.Met826=)
c.1501A= (p.Met501=)
c.2215A= (p.Met739=)
c.3193A= (p.Met1065=)
n.3011A=
n.3219A=
1g.197434921A>CCA344045061CRB1c.3058A>C (p.Met1020Leu)
c.1939A>C (p.Met647Leu)
c.1201A>C (p.Met401Leu)
c.2722A>C (p.Met908Leu)
c.2986A>C (p.Met996Leu)
c.2129-679A>C (n.2129-679A>C)
n.3059A>C
n.3267A>C
c.2476A>C (p.Met826Leu)
c.1501A>C (p.Met501Leu)
c.2215A>C (p.Met739Leu)
c.3193A>C (p.Met1065Leu)
n.3011A>C
n.3219A>C
1g.197434921A>GCA1312267CRB1c.3058A>G (p.Met1020Val)
c.1939A>G (p.Met647Val)
c.1201A>G (p.Met401Val)
c.2722A>G (p.Met908Val)
c.2986A>G (p.Met996Val)
c.2129-679A>G (n.2129-679A>G)
n.3059A>G
n.3267A>G
c.2476A>G (p.Met826Val)
c.1501A>G (p.Met501Val)
c.2215A>G (p.Met739Val)
c.3193A>G (p.Met1065Val)
n.3011A>G
n.3219A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434921A>TCA344045065CRB1c.3058A>T (p.Met1020Leu)
c.1939A>T (p.Met647Leu)
c.1201A>T (p.Met401Leu)
c.2722A>T (p.Met908Leu)
c.2986A>T (p.Met996Leu)
c.2129-679A>T (n.2129-679A>T)
n.3059A>T
n.3267A>T
c.2476A>T (p.Met826Leu)
c.1501A>T (p.Met501Leu)
c.2215A>T (p.Met739Leu)
c.3193A>T (p.Met1065Leu)
n.3011A>T
n.3219A>T
1g.197434922delCA2586967865CRB1c.3059del (p.Met1020SerfsTer2)
c.1940del (p.Met647SerfsTer2)
c.1202del (p.Met401SerfsTer2)
c.2723del (p.Met908SerfsTer2)
c.2987del (p.Met996SerfsTer2)
c.2129-678del (n.2129-678del)
n.3060del
n.3268del
c.2477del (p.Met826SerfsTer2)
c.1502del (p.Met501SerfsTer2)
c.2216del (p.Met739SerfsTer2)
c.3194del (p.Met1065SerfsTer2)
n.3012del
n.3220del
1g.197434922T>ACA344045072CRB1c.3059T>A (p.Met1020Lys)
c.1940T>A (p.Met647Lys)
c.1202T>A (p.Met401Lys)
c.2723T>A (p.Met908Lys)
c.2987T>A (p.Met996Lys)
c.2129-678T>A (n.2129-678T>A)
n.3060T>A
n.3268T>A
c.2477T>A (p.Met826Lys)
c.1502T>A (p.Met501Lys)
c.2216T>A (p.Met739Lys)
c.3194T>A (p.Met1065Lys)
n.3012T>A
n.3220T>A
 gnomAD v4
1g.197434922T>CCA1312268CRB1c.3059T>C (p.Met1020Thr)
c.1940T>C (p.Met647Thr)
c.1202T>C (p.Met401Thr)
c.2723T>C (p.Met908Thr)
c.2987T>C (p.Met996Thr)
c.2129-678T>C (n.2129-678T>C)
n.3060T>C
n.3268T>C
c.2477T>C (p.Met826Thr)
c.1502T>C (p.Met501Thr)
c.2216T>C (p.Met739Thr)
c.3194T>C (p.Met1065Thr)
n.3012T>C
n.3220T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434922T>GCA344045081CRB1c.3059T>G (p.Met1020Arg)
c.1940T>G (p.Met647Arg)
c.1202T>G (p.Met401Arg)
c.2723T>G (p.Met908Arg)
c.2987T>G (p.Met996Arg)
c.2129-678T>G (n.2129-678T>G)
n.3060T>G
n.3268T>G
c.2477T>G (p.Met826Arg)
c.1502T>G (p.Met501Arg)
c.2216T>G (p.Met739Arg)
c.3194T>G (p.Met1065Arg)
n.3012T>G
n.3220T>G
1g.197434922T=CA1218068718CRB1c.3059T= (p.Met1020=)
c.1940T= (p.Met647=)
c.1202T= (p.Met401=)
c.2723T= (p.Met908=)
c.2987T= (p.Met996=)
c.2129-678T= (n.2129-678T=)
n.3060T=
n.3268T=
c.2477T= (p.Met826=)
c.1502T= (p.Met501=)
c.2216T= (p.Met739=)
c.3194T= (p.Met1065=)
n.3012T=
n.3220T=
1g.197434923G>ACA344045100CRB1c.3060G>A (p.Met1020Ile)
c.1941G>A (p.Met647Ile)
c.1203G>A (p.Met401Ile)
c.2724G>A (p.Met908Ile)
c.2988G>A (p.Met996Ile)
c.2129-677G>A (n.2129-677G>A)
n.3061G>A
n.3269G>A
c.2478G>A (p.Met826Ile)
c.1503G>A (p.Met501Ile)
c.2217G>A (p.Met739Ile)
c.3195G>A (p.Met1065Ile)
n.3013G>A
n.3221G>A
1g.197434923G>CCA344045105CRB1c.3060G>C (p.Met1020Ile)
c.1941G>C (p.Met647Ile)
c.1203G>C (p.Met401Ile)
c.2724G>C (p.Met908Ile)
c.2988G>C (p.Met996Ile)
c.2129-677G>C (n.2129-677G>C)
n.3061G>C
n.3269G>C
c.2478G>C (p.Met826Ile)
c.1503G>C (p.Met501Ile)
c.2217G>C (p.Met739Ile)
c.3195G>C (p.Met1065Ile)
n.3013G>C
n.3221G>C
1g.197434923G>TCA344045107CRB1c.3060G>T (p.Met1020Ile)
c.1941G>T (p.Met647Ile)
c.1203G>T (p.Met401Ile)
c.2724G>T (p.Met908Ile)
c.2988G>T (p.Met996Ile)
c.2129-677G>T (n.2129-677G>T)
n.3061G>T
n.3269G>T
c.2478G>T (p.Met826Ile)
c.1503G>T (p.Met501Ile)
c.2217G>T (p.Met739Ile)
c.3195G>T (p.Met1065Ile)
n.3013G>T
n.3221G>T
1g.197434924C>ACA344045109CRB1c.3061C>A (p.Leu1021Ile)
c.1942C>A (p.Leu648Ile)
c.1204C>A (p.Leu402Ile)
c.2725C>A (p.Leu909Ile)
c.2989C>A (p.Leu997Ile)
c.2129-676C>A (n.2129-676C>A)
n.3062C>A
n.3270C>A
c.2479C>A (p.Leu827Ile)
c.1504C>A (p.Leu502Ile)
c.2218C>A (p.Leu740Ile)
c.3196C>A (p.Leu1066Ile)
n.3014C>A
n.3222C>A
1g.197434924C>GCA344045111CRB1c.3061C>G (p.Leu1021Val)
c.1942C>G (p.Leu648Val)
c.1204C>G (p.Leu402Val)
c.2725C>G (p.Leu909Val)
c.2989C>G (p.Leu997Val)
c.2129-676C>G (n.2129-676C>G)
n.3062C>G
n.3270C>G
c.2479C>G (p.Leu827Val)
c.1504C>G (p.Leu502Val)
c.2218C>G (p.Leu740Val)
c.3196C>G (p.Leu1066Val)
n.3014C>G
n.3222C>G
1g.197434924C>TCA422808743CRB1c.3061C>T (p.Leu1021=)
c.1942C>T (p.Leu648=)
c.1204C>T (p.Leu402=)
c.2725C>T (p.Leu909=)
c.2989C>T (p.Leu997=)
c.2129-676C>T (n.2129-676C>T)
n.3062C>T
n.3270C>T
c.2479C>T (p.Leu827=)
c.1504C>T (p.Leu502=)
c.2218C>T (p.Leu740=)
c.3196C>T (p.Leu1066=)
n.3014C>T
n.3222C>T
 dbSNP
1g.197434925T>ACA344045122CRB1c.3062T>A (p.Leu1021Gln)
c.1943T>A (p.Leu648Gln)
c.1205T>A (p.Leu402Gln)
c.2726T>A (p.Leu909Gln)
c.2990T>A (p.Leu997Gln)
c.2129-675T>A (n.2129-675T>A)
n.3063T>A
n.3271T>A
c.2480T>A (p.Leu827Gln)
c.1505T>A (p.Leu502Gln)
c.2219T>A (p.Leu740Gln)
c.3197T>A (p.Leu1066Gln)
n.3015T>A
n.3223T>A
1g.197434925T>CCA344045114CRB1c.3062T>C (p.Leu1021Pro)
c.1943T>C (p.Leu648Pro)
c.1205T>C (p.Leu402Pro)
c.2726T>C (p.Leu909Pro)
c.2990T>C (p.Leu997Pro)
c.2129-675T>C (n.2129-675T>C)
n.3063T>C
n.3271T>C
c.2480T>C (p.Leu827Pro)
c.1505T>C (p.Leu502Pro)
c.2219T>C (p.Leu740Pro)
c.3197T>C (p.Leu1066Pro)
n.3015T>C
n.3223T>C
 ClinVar dbSNP
1g.197434925T>GCA344045118CRB1c.3062T>G (p.Leu1021Arg)
c.1943T>G (p.Leu648Arg)
c.1205T>G (p.Leu402Arg)
c.2726T>G (p.Leu909Arg)
c.2990T>G (p.Leu997Arg)
c.2129-675T>G (n.2129-675T>G)
n.3063T>G
n.3271T>G
c.2480T>G (p.Leu827Arg)
c.1505T>G (p.Leu502Arg)
c.2219T>G (p.Leu740Arg)
c.3197T>G (p.Leu1066Arg)
n.3015T>G
n.3223T>G
1g.197434925T=CA1218068719CRB1c.3062T= (p.Leu1021=)
c.1943T= (p.Leu648=)
c.1205T= (p.Leu402=)
c.2726T= (p.Leu909=)
c.2990T= (p.Leu997=)
c.2129-675T= (n.2129-675T=)
n.3063T=
n.3271T=
c.2480T= (p.Leu827=)
c.1505T= (p.Leu502=)
c.2219T= (p.Leu740=)
c.3197T= (p.Leu1066=)
n.3015T=
n.3223T=
1g.197434925_197434927delinsTAACA1218068720CRB1c.3062_3064delinsTAA (p.Leu1021=)
c.1943_1945delinsTAA (p.Leu648=)
c.1205_1207delinsTAA (p.Leu402=)
c.2726_2728delinsTAA (p.Leu909=)
c.2990_2992delinsTAA (p.Leu997=)
c.2129-675_2129-673delinsTAA (n.2129-675_2129-673delinsTAA)
n.3063_3065delinsTAA
n.3271_3273delinsTAA
c.2480_2482delinsTAA (p.Leu827=)
c.1505_1507delinsTAA (p.Leu502=)
c.2219_2221delinsTAA (p.Leu740=)
c.3197_3199delinsTAA (p.Leu1066=)
n.3015_3017delinsTAA
n.3223_3225delinsTAA
1g.197434926A>CCA422808744CRB1c.3063A>C (p.Leu1021=)
c.1944A>C (p.Leu648=)
c.1206A>C (p.Leu402=)
c.2727A>C (p.Leu909=)
c.2991A>C (p.Leu997=)
c.2129-674A>C (n.2129-674A>C)
n.3064A>C
n.3272A>C
c.2481A>C (p.Leu827=)
c.1506A>C (p.Leu502=)
c.2220A>C (p.Leu740=)
c.3198A>C (p.Leu1066=)
n.3016A>C
n.3224A>C
1g.197434926A>GCA422808745CRB1c.3063A>G (p.Leu1021=)
c.1944A>G (p.Leu648=)
c.1206A>G (p.Leu402=)
c.2727A>G (p.Leu909=)
c.2991A>G (p.Leu997=)
c.2129-674A>G (n.2129-674A>G)
n.3064A>G
n.3272A>G
c.2481A>G (p.Leu827=)
c.1506A>G (p.Leu502=)
c.2220A>G (p.Leu740=)
c.3198A>G (p.Leu1066=)
n.3016A>G
n.3224A>G
 gnomAD v4
1g.197434926A>TCA422808746CRB1c.3063A>T (p.Leu1021=)
c.1944A>T (p.Leu648=)
c.1206A>T (p.Leu402=)
c.2727A>T (p.Leu909=)
c.2991A>T (p.Leu997=)
c.2129-674A>T (n.2129-674A>T)
n.3064A>T
n.3272A>T
c.2481A>T (p.Leu827=)
c.1506A>T (p.Leu502=)
c.2220A>T (p.Leu740=)
c.3198A>T (p.Leu1066=)
n.3016A>T
n.3224A>T
1g.197434926_197434927delCA1218068721CRB1c.3063_3064del (p.Leu1023AspfsTer8)
c.1944_1945del (p.Leu650AspfsTer8)
c.1206_1207del (p.Leu404AspfsTer8)
c.2727_2728del (p.Leu911AspfsTer8)
c.2991_2992del (p.Leu999AspfsTer8)
c.2129-674_2129-673del (n.2129-674_2129-673del)
n.3064_3065del
n.3272_3273del
c.2481_2482del (p.Leu829AspfsTer8)
c.1506_1507del (p.Leu504AspfsTer8)
c.2220_2221del (p.Leu742AspfsTer8)
c.3198_3199del (p.Leu1068AspfsTer8)
n.3016_3017del
n.3224_3225del
 dbSNP
1g.197434927A=CA1218068722CRB1c.3064A= (p.Ser1022=)
c.1945A= (p.Ser649=)
c.1207A= (p.Ser403=)
c.2728A= (p.Ser910=)
c.2992A= (p.Ser998=)
c.2129-673A= (n.2129-673A=)
n.3065A=
n.3273A=
c.2482A= (p.Ser828=)
c.1507A= (p.Ser503=)
c.2221A= (p.Ser741=)
c.3199A= (p.Ser1067=)
n.3017A=
n.3225A=
1g.197434927A>CCA344045130CRB1c.3064A>C (p.Ser1022Arg)
c.1945A>C (p.Ser649Arg)
c.1207A>C (p.Ser403Arg)
c.2728A>C (p.Ser910Arg)
c.2992A>C (p.Ser998Arg)
c.2129-673A>C (n.2129-673A>C)
n.3065A>C
n.3273A>C
c.2482A>C (p.Ser828Arg)
c.1507A>C (p.Ser503Arg)
c.2221A>C (p.Ser741Arg)
c.3199A>C (p.Ser1067Arg)
n.3017A>C
n.3225A>C
 COSMIC COSMIC
1g.197434927A>GCA344045133CRB1c.3064A>G (p.Ser1022Gly)
c.1945A>G (p.Ser649Gly)
c.1207A>G (p.Ser403Gly)
c.2728A>G (p.Ser910Gly)
c.2992A>G (p.Ser998Gly)
c.2129-673A>G (n.2129-673A>G)
n.3065A>G
n.3273A>G
c.2482A>G (p.Ser828Gly)
c.1507A>G (p.Ser503Gly)
c.2221A>G (p.Ser741Gly)
c.3199A>G (p.Ser1067Gly)
n.3017A>G
n.3225A>G
1g.197434927A>TCA35906928CRB1c.3064A>T (p.Ser1022Cys)
c.1945A>T (p.Ser649Cys)
c.1207A>T (p.Ser403Cys)
c.2728A>T (p.Ser910Cys)
c.2992A>T (p.Ser998Cys)
c.2129-673A>T (n.2129-673A>T)
n.3065A>T
n.3273A>T
c.2482A>T (p.Ser828Cys)
c.1507A>T (p.Ser503Cys)
c.2221A>T (p.Ser741Cys)
c.3199A>T (p.Ser1067Cys)
n.3017A>T
n.3225A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197434928G>ACA344045141CRB1c.3065G>A (p.Ser1022Asn)
c.1946G>A (p.Ser649Asn)
c.1208G>A (p.Ser403Asn)
c.2729G>A (p.Ser910Asn)
c.2993G>A (p.Ser998Asn)
c.2129-672G>A (n.2129-672G>A)
n.3066G>A
n.3274G>A
c.2483G>A (p.Ser828Asn)
c.1508G>A (p.Ser503Asn)
c.2222G>A (p.Ser741Asn)
c.3200G>A (p.Ser1067Asn)
n.3018G>A
n.3226G>A
1g.197434928G>CCA344045174CRB1c.3065G>C (p.Ser1022Thr)
c.1946G>C (p.Ser649Thr)
c.1208G>C (p.Ser403Thr)
c.2729G>C (p.Ser910Thr)
c.2993G>C (p.Ser998Thr)
c.2129-672G>C (n.2129-672G>C)
n.3066G>C
n.3274G>C
c.2483G>C (p.Ser828Thr)
c.1508G>C (p.Ser503Thr)
c.2222G>C (p.Ser741Thr)
c.3200G>C (p.Ser1067Thr)
n.3018G>C
n.3226G>C
1g.197434928G>TCA344045179CRB1c.3065G>T (p.Ser1022Ile)
c.1946G>T (p.Ser649Ile)
c.1208G>T (p.Ser403Ile)
c.2729G>T (p.Ser910Ile)
c.2993G>T (p.Ser998Ile)
c.2129-672G>T (n.2129-672G>T)
n.3066G>T
n.3274G>T
c.2483G>T (p.Ser828Ile)
c.1508G>T (p.Ser503Ile)
c.2222G>T (p.Ser741Ile)
c.3200G>T (p.Ser1067Ile)
n.3018G>T
n.3226G>T
1g.197434929T>ACA344045182CRB1c.3066T>A (p.Ser1022Arg)
c.1947T>A (p.Ser649Arg)
c.1209T>A (p.Ser403Arg)
c.2730T>A (p.Ser910Arg)
c.2994T>A (p.Ser998Arg)
c.2129-671T>A (n.2129-671T>A)
n.3067T>A
n.3275T>A
c.2484T>A (p.Ser828Arg)
c.1509T>A (p.Ser503Arg)
c.2223T>A (p.Ser741Arg)
c.3201T>A (p.Ser1067Arg)
n.3019T>A
n.3227T>A
1g.197434929T>CCA422808749CRB1c.3066T>C (p.Ser1022=)
c.1947T>C (p.Ser649=)
c.1209T>C (p.Ser403=)
c.2730T>C (p.Ser910=)
c.2994T>C (p.Ser998=)
c.2129-671T>C (n.2129-671T>C)
n.3067T>C
n.3275T>C
c.2484T>C (p.Ser828=)
c.1509T>C (p.Ser503=)
c.2223T>C (p.Ser741=)
c.3201T>C (p.Ser1067=)
n.3019T>C
n.3227T>C
 gnomAD v4
1g.197434929T>GCA344045185CRB1c.3066T>G (p.Ser1022Arg)
c.1947T>G (p.Ser649Arg)
c.1209T>G (p.Ser403Arg)
c.2730T>G (p.Ser910Arg)
c.2994T>G (p.Ser998Arg)
c.2129-671T>G (n.2129-671T>G)
n.3067T>G
n.3275T>G
c.2484T>G (p.Ser828Arg)
c.1509T>G (p.Ser503Arg)
c.2223T>G (p.Ser741Arg)
c.3201T>G (p.Ser1067Arg)
n.3019T>G
n.3227T>G
 gnomAD v4
1g.197434930C>ACA344045186CRB1c.3067C>A (p.Leu1023Met)
c.1948C>A (p.Leu650Met)
c.1210C>A (p.Leu404Met)
c.2731C>A (p.Leu911Met)
c.2995C>A (p.Leu999Met)
c.2129-670C>A (n.2129-670C>A)
n.3068C>A
n.3276C>A
c.2485C>A (p.Leu829Met)
c.1510C>A (p.Leu504Met)
c.2224C>A (p.Leu742Met)
c.3202C>A (p.Leu1068Met)
n.3020C>A
n.3228C>A
1g.197434930C=CA1218068723CRB1c.3067C= (p.Leu1023=)
c.1948C= (p.Leu650=)
c.1210C= (p.Leu404=)
c.2731C= (p.Leu911=)
c.2995C= (p.Leu999=)
c.2129-670C= (n.2129-670C=)
n.3068C=
n.3276C=
c.2485C= (p.Leu829=)
c.1510C= (p.Leu504=)
c.2224C= (p.Leu742=)
c.3202C= (p.Leu1068=)
n.3020C=
n.3228C=
1g.197434930C>GCA344045187CRB1c.3067C>G (p.Leu1023Val)
c.1948C>G (p.Leu650Val)
c.1210C>G (p.Leu404Val)
c.2731C>G (p.Leu911Val)
c.2995C>G (p.Leu999Val)
c.2129-670C>G (n.2129-670C>G)
n.3068C>G
n.3276C>G
c.2485C>G (p.Leu829Val)
c.1510C>G (p.Leu504Val)
c.2224C>G (p.Leu742Val)
c.3202C>G (p.Leu1068Val)
n.3020C>G
n.3228C>G
 dbSNP
1g.197434930C>TCA422808750CRB1c.3067C>T (p.Leu1023=)
c.1948C>T (p.Leu650=)
c.1210C>T (p.Leu404=)
c.2731C>T (p.Leu911=)
c.2995C>T (p.Leu999=)
c.2129-670C>T (n.2129-670C>T)
n.3068C>T
n.3276C>T
c.2485C>T (p.Leu829=)
c.1510C>T (p.Leu504=)
c.2224C>T (p.Leu742=)
c.3202C>T (p.Leu1068=)
n.3020C>T
n.3228C>T
 COSMIC COSMIC
1g.197434931T>ACA344045190CRB1c.3068T>A (p.Leu1023Gln)
c.1949T>A (p.Leu650Gln)
c.1211T>A (p.Leu404Gln)
c.2732T>A (p.Leu911Gln)
c.2996T>A (p.Leu999Gln)
c.2129-669T>A (n.2129-669T>A)
n.3069T>A
n.3277T>A
c.2486T>A (p.Leu829Gln)
c.1511T>A (p.Leu504Gln)
c.2225T>A (p.Leu742Gln)
c.3203T>A (p.Leu1068Gln)
n.3021T>A
n.3229T>A
1g.197434931T>CCA344045194CRB1c.3068T>C (p.Leu1023Pro)
c.1949T>C (p.Leu650Pro)
c.1211T>C (p.Leu404Pro)
c.2732T>C (p.Leu911Pro)
c.2996T>C (p.Leu999Pro)
c.2129-669T>C (n.2129-669T>C)
n.3069T>C
n.3277T>C
c.2486T>C (p.Leu829Pro)
c.1511T>C (p.Leu504Pro)
c.2225T>C (p.Leu742Pro)
c.3203T>C (p.Leu1068Pro)
n.3021T>C
n.3229T>C
1g.197434931T>GCA344045188CRB1c.3068T>G (p.Leu1023Arg)
c.1949T>G (p.Leu650Arg)
c.1211T>G (p.Leu404Arg)
c.2732T>G (p.Leu911Arg)
c.2996T>G (p.Leu999Arg)
c.2129-669T>G (n.2129-669T>G)
n.3069T>G
n.3277T>G
c.2486T>G (p.Leu829Arg)
c.1511T>G (p.Leu504Arg)
c.2225T>G (p.Leu742Arg)
c.3203T>G (p.Leu1068Arg)
n.3021T>G
n.3229T>G
 ClinVar dbSNP gnomAD v4
1g.197434931T=CA1218068724CRB1c.3068T= (p.Leu1023=)
c.1949T= (p.Leu650=)
c.1211T= (p.Leu404=)
c.2732T= (p.Leu911=)
c.2996T= (p.Leu999=)
c.2129-669T= (n.2129-669T=)
n.3069T=
n.3277T=
c.2486T= (p.Leu829=)
c.1511T= (p.Leu504=)
c.2225T= (p.Leu742=)
c.3203T= (p.Leu1068=)
n.3021T=
n.3229T=
1g.197434932delCA2649670639CRB1c.3069del (p.Thr1024GlnfsTer6)
c.1950del (p.Thr651GlnfsTer6)
c.1212del (p.Thr405GlnfsTer6)
c.2733del (p.Thr912GlnfsTer6)
c.2997del (p.Thr1000GlnfsTer6)
c.2129-668del (n.2129-668del)
n.3070del
n.3278del
c.2487del (p.Thr830GlnfsTer6)
c.1512del (p.Thr505GlnfsTer6)
c.2226del (p.Thr743GlnfsTer6)
c.3204del (p.Thr1069GlnfsTer6)
n.3022del
n.3230del
 gnomAD v4
1g.197434932G>ACA35906929CRB1c.3069G>A (p.Leu1023=)
c.1950G>A (p.Leu650=)
c.1212G>A (p.Leu404=)
c.2733G>A (p.Leu911=)
c.2997G>A (p.Leu999=)
c.2129-668G>A (n.2129-668G>A)
n.3070G>A
n.3278G>A
c.2487G>A (p.Leu829=)
c.1512G>A (p.Leu504=)
c.2226G>A (p.Leu742=)
c.3204G>A (p.Leu1068=)
n.3022G>A
n.3230G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197434932G>CCA422808753CRB1c.3069G>C (p.Leu1023=)
c.1950G>C (p.Leu650=)
c.1212G>C (p.Leu404=)
c.2733G>C (p.Leu911=)
c.2997G>C (p.Leu999=)
c.2129-668G>C (n.2129-668G>C)
n.3070G>C
n.3278G>C
c.2487G>C (p.Leu829=)
c.1512G>C (p.Leu504=)
c.2226G>C (p.Leu742=)
c.3204G>C (p.Leu1068=)
n.3022G>C
n.3230G>C
1g.197434932G=CA1143515758CRB1c.3069G= (p.Leu1023=)
c.1950G= (p.Leu650=)
c.1212G= (p.Leu404=)
c.2733G= (p.Leu911=)
c.2997G= (p.Leu999=)
c.2129-668G= (n.2129-668G=)
n.3070G=
n.3278G=
c.2487G= (p.Leu829=)
c.1512G= (p.Leu504=)
c.2226G= (p.Leu742=)
c.3204G= (p.Leu1068=)
n.3022G=
n.3230G=
1g.197434932G>TCA422808755CRB1c.3069G>T (p.Leu1023=)
c.1950G>T (p.Leu650=)
c.1212G>T (p.Leu404=)
c.2733G>T (p.Leu911=)
c.2997G>T (p.Leu999=)
c.2129-668G>T (n.2129-668G>T)
n.3070G>T
n.3278G>T
c.2487G>T (p.Leu829=)
c.1512G>T (p.Leu504=)
c.2226G>T (p.Leu742=)
c.3204G>T (p.Leu1068=)
n.3022G>T
n.3230G>T
1g.197434933delCA2573051458CRB1c.3070del (p.Thr1024GlnfsTer6)
c.1951del (p.Thr651GlnfsTer6)
c.1213del (p.Thr405GlnfsTer6)
c.2734del (p.Thr912GlnfsTer6)
c.2998del (p.Thr1000GlnfsTer6)
c.2129-667del (n.2129-667del)
n.3071del
n.3279del
c.2488del (p.Thr830GlnfsTer6)
c.1513del (p.Thr505GlnfsTer6)
c.2227del (p.Thr743GlnfsTer6)
c.3205del (p.Thr1069GlnfsTer6)
n.3023del
n.3231del
 ClinVar dbSNP
1g.197434933A>CCA344045198CRB1c.3070A>C (p.Thr1024Pro)
c.1951A>C (p.Thr651Pro)
c.1213A>C (p.Thr405Pro)
c.2734A>C (p.Thr912Pro)
c.2998A>C (p.Thr1000Pro)
c.2129-667A>C (n.2129-667A>C)
n.3071A>C
n.3279A>C
c.2488A>C (p.Thr830Pro)
c.1513A>C (p.Thr505Pro)
c.2227A>C (p.Thr743Pro)
c.3205A>C (p.Thr1069Pro)
n.3023A>C
n.3231A>C
1g.197434933A>GCA344045199CRB1c.3070A>G (p.Thr1024Ala)
c.1951A>G (p.Thr651Ala)
c.1213A>G (p.Thr405Ala)
c.2734A>G (p.Thr912Ala)
c.2998A>G (p.Thr1000Ala)
c.2129-667A>G (n.2129-667A>G)
n.3071A>G
n.3279A>G
c.2488A>G (p.Thr830Ala)
c.1513A>G (p.Thr505Ala)
c.2227A>G (p.Thr743Ala)
c.3205A>G (p.Thr1069Ala)
n.3023A>G
n.3231A>G
1g.197434933A>TCA344045202CRB1c.3070A>T (p.Thr1024Ser)
c.1951A>T (p.Thr651Ser)
c.1213A>T (p.Thr405Ser)
c.2734A>T (p.Thr912Ser)
c.2998A>T (p.Thr1000Ser)
c.2129-667A>T (n.2129-667A>T)
n.3071A>T
n.3279A>T
c.2488A>T (p.Thr830Ser)
c.1513A>T (p.Thr505Ser)
c.2227A>T (p.Thr743Ser)
c.3205A>T (p.Thr1069Ser)
n.3023A>T
n.3231A>T
1g.197434934C>ACA344045206CRB1c.3071C>A (p.Thr1024Lys)
c.1952C>A (p.Thr651Lys)
c.1214C>A (p.Thr405Lys)
c.2735C>A (p.Thr912Lys)
c.2999C>A (p.Thr1000Lys)
c.2129-666C>A (n.2129-666C>A)
n.3072C>A
n.3280C>A
c.2489C>A (p.Thr830Lys)
c.1514C>A (p.Thr505Lys)
c.2228C>A (p.Thr743Lys)
c.3206C>A (p.Thr1069Lys)
n.3024C>A
n.3232C>A
1g.197434934C>GCA344045208CRB1c.3071C>G (p.Thr1024Arg)
c.1952C>G (p.Thr651Arg)
c.1214C>G (p.Thr405Arg)
c.2735C>G (p.Thr912Arg)
c.2999C>G (p.Thr1000Arg)
c.2129-666C>G (n.2129-666C>G)
n.3072C>G
n.3280C>G
c.2489C>G (p.Thr830Arg)
c.1514C>G (p.Thr505Arg)
c.2228C>G (p.Thr743Arg)
c.3206C>G (p.Thr1069Arg)
n.3024C>G
n.3232C>G
1g.197434934C>TCA344045212CRB1c.3071C>T (p.Thr1024Ile)
c.1952C>T (p.Thr651Ile)
c.1214C>T (p.Thr405Ile)
c.2735C>T (p.Thr912Ile)
c.2999C>T (p.Thr1000Ile)
c.2129-666C>T (n.2129-666C>T)
n.3072C>T
n.3280C>T
c.2489C>T (p.Thr830Ile)
c.1514C>T (p.Thr505Ile)
c.2228C>T (p.Thr743Ile)
c.3206C>T (p.Thr1069Ile)
n.3024C>T
n.3232C>T
1g.197434935A>CCA422808757CRB1c.3072A>C (p.Thr1024=)
c.1953A>C (p.Thr651=)
c.1215A>C (p.Thr405=)
c.2736A>C (p.Thr912=)
c.3000A>C (p.Thr1000=)
c.2129-665A>C (n.2129-665A>C)
n.3073A>C
n.3281A>C
c.2490A>C (p.Thr830=)
c.1515A>C (p.Thr505=)
c.2229A>C (p.Thr743=)
c.3207A>C (p.Thr1069=)
n.3025A>C
n.3233A>C
1g.197434935A>GCA422808761CRB1c.3072A>G (p.Thr1024=)
c.1953A>G (p.Thr651=)
c.1215A>G (p.Thr405=)
c.2736A>G (p.Thr912=)
c.3000A>G (p.Thr1000=)
c.2129-665A>G (n.2129-665A>G)
n.3073A>G
n.3281A>G
c.2490A>G (p.Thr830=)
c.1515A>G (p.Thr505=)
c.2229A>G (p.Thr743=)
c.3207A>G (p.Thr1069=)
n.3025A>G
n.3233A>G
1g.197434935A>TCA422808759CRB1c.3072A>T (p.Thr1024=)
c.1953A>T (p.Thr651=)
c.1215A>T (p.Thr405=)
c.2736A>T (p.Thr912=)
c.3000A>T (p.Thr1000=)
c.2129-665A>T (n.2129-665A>T)
n.3073A>T
n.3281A>T
c.2490A>T (p.Thr830=)
c.1515A>T (p.Thr505=)
c.2229A>T (p.Thr743=)
c.3207A>T (p.Thr1069=)
n.3025A>T
n.3233A>T
1g.197434936A=CA1218068725CRB1c.3073A= (p.Ser1025=)
c.1954A= (p.Ser652=)
c.1216A= (p.Ser406=)
c.2737A= (p.Ser913=)
c.3001A= (p.Ser1001=)
c.2129-664A= (n.2129-664A=)
n.3074A=
n.3282A=
c.2491A= (p.Ser831=)
c.1516A= (p.Ser506=)
c.2230A= (p.Ser744=)
c.3208A= (p.Ser1070=)
n.3026A=
n.3234A=
1g.197434936A>CCA344045217CRB1c.3073A>C (p.Ser1025Arg)
c.1954A>C (p.Ser652Arg)
c.1216A>C (p.Ser406Arg)
c.2737A>C (p.Ser913Arg)
c.3001A>C (p.Ser1001Arg)
c.2129-664A>C (n.2129-664A>C)
n.3074A>C
n.3282A>C
c.2491A>C (p.Ser831Arg)
c.1516A>C (p.Ser506Arg)
c.2230A>C (p.Ser744Arg)
c.3208A>C (p.Ser1070Arg)
n.3026A>C
n.3234A>C
1g.197434936A>GCA1312269CRB1c.3073A>G (p.Ser1025Gly)
c.1954A>G (p.Ser652Gly)
c.1216A>G (p.Ser406Gly)
c.2737A>G (p.Ser913Gly)
c.3001A>G (p.Ser1001Gly)
c.2129-664A>G (n.2129-664A>G)
n.3074A>G
n.3282A>G
c.2491A>G (p.Ser831Gly)
c.1516A>G (p.Ser506Gly)
c.2230A>G (p.Ser744Gly)
c.3208A>G (p.Ser1070Gly)
n.3026A>G
n.3234A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434936A>TCA344045219CRB1c.3073A>T (p.Ser1025Cys)
c.1954A>T (p.Ser652Cys)
c.1216A>T (p.Ser406Cys)
c.2737A>T (p.Ser913Cys)
c.3001A>T (p.Ser1001Cys)
c.2129-664A>T (n.2129-664A>T)
n.3074A>T
n.3282A>T
c.2491A>T (p.Ser831Cys)
c.1516A>T (p.Ser506Cys)
c.2230A>T (p.Ser744Cys)
c.3208A>T (p.Ser1070Cys)
n.3026A>T
n.3234A>T
1g.197434937G>ACA344045220CRB1c.3074G>A (p.Ser1025Asn)
c.1955G>A (p.Ser652Asn)
c.1217G>A (p.Ser406Asn)
c.2738G>A (p.Ser913Asn)
c.3002G>A (p.Ser1001Asn)
c.2129-663G>A (n.2129-663G>A)
n.3075G>A
n.3283G>A
c.2492G>A (p.Ser831Asn)
c.1517G>A (p.Ser506Asn)
c.2231G>A (p.Ser744Asn)
c.3209G>A (p.Ser1070Asn)
n.3027G>A
n.3235G>A
 ClinVar dbSNP gnomAD v4
1g.197434937G>CCA344045223CRB1c.3074G>C (p.Ser1025Thr)
c.1955G>C (p.Ser652Thr)
c.1217G>C (p.Ser406Thr)
c.2738G>C (p.Ser913Thr)
c.3002G>C (p.Ser1001Thr)
c.2129-663G>C (n.2129-663G>C)
n.3075G>C
n.3283G>C
c.2492G>C (p.Ser831Thr)
c.1517G>C (p.Ser506Thr)
c.2231G>C (p.Ser744Thr)
c.3209G>C (p.Ser1070Thr)
n.3027G>C
n.3235G>C
1g.197434937G=CA1140762959CRB1c.3074G= (p.Ser1025=)
c.1955G= (p.Ser652=)
c.1217G= (p.Ser406=)
c.2738G= (p.Ser913=)
c.3002G= (p.Ser1001=)
c.2129-663G= (n.2129-663G=)
n.3075G=
n.3283G=
c.2492G= (p.Ser831=)
c.1517G= (p.Ser506=)
c.2231G= (p.Ser744=)
c.3209G= (p.Ser1070=)
n.3027G=
n.3235G=
1g.197434937G>TCA228030CRB1c.3074G>T (p.Ser1025Ile)
c.1955G>T (p.Ser652Ile)
c.1217G>T (p.Ser406Ile)
c.2738G>T (p.Ser913Ile)
c.3002G>T (p.Ser1001Ile)
c.2129-663G>T (n.2129-663G>T)
n.3075G>T
n.3283G>T
c.2492G>T (p.Ser831Ile)
c.1517G>T (p.Ser506Ile)
c.2231G>T (p.Ser744Ile)
c.3209G>T (p.Ser1070Ile)
n.3027G>T
n.3235G>T
 ClinVar dbSNP
1g.197434938T>ACA344045228CRB1c.3075T>A (p.Ser1025Arg)
c.1956T>A (p.Ser652Arg)
c.1218T>A (p.Ser406Arg)
c.2739T>A (p.Ser913Arg)
c.3003T>A (p.Ser1001Arg)
c.2129-662T>A (n.2129-662T>A)
n.3076T>A
n.3284T>A
c.2493T>A (p.Ser831Arg)
c.1518T>A (p.Ser506Arg)
c.2232T>A (p.Ser744Arg)
c.3210T>A (p.Ser1070Arg)
n.3028T>A
n.3236T>A
1g.197434938T>CCA422808763CRB1c.3075T>C (p.Ser1025=)
c.1956T>C (p.Ser652=)
c.1218T>C (p.Ser406=)
c.2739T>C (p.Ser913=)
c.3003T>C (p.Ser1001=)
c.2129-662T>C (n.2129-662T>C)
n.3076T>C
n.3284T>C
c.2493T>C (p.Ser831=)
c.1518T>C (p.Ser506=)
c.2232T>C (p.Ser744=)
c.3210T>C (p.Ser1070=)
n.3028T>C
n.3236T>C
 ClinVar
1g.197434938T>GCA344045232CRB1c.3075T>G (p.Ser1025Arg)
c.1956T>G (p.Ser652Arg)
c.1218T>G (p.Ser406Arg)
c.2739T>G (p.Ser913Arg)
c.3003T>G (p.Ser1001Arg)
c.2129-662T>G (n.2129-662T>G)
n.3076T>G
n.3284T>G
c.2493T>G (p.Ser831Arg)
c.1518T>G (p.Ser506Arg)
c.2232T>G (p.Ser744Arg)
c.3210T>G (p.Ser1070Arg)
n.3028T>G
n.3236T>G
1g.197434939T>ACA344045233CRB1c.3076T>A (p.Leu1026Met)
c.1957T>A (p.Leu653Met)
c.1219T>A (p.Leu407Met)
c.2740T>A (p.Leu914Met)
c.3004T>A (p.Leu1002Met)
c.2129-661T>A (n.2129-661T>A)
n.3077T>A
n.3285T>A
c.2494T>A (p.Leu832Met)
c.1519T>A (p.Leu507Met)
c.2233T>A (p.Leu745Met)
c.3211T>A (p.Leu1071Met)
n.3029T>A
n.3237T>A
1g.197434939T>CCA422808765CRB1c.3076T>C (p.Leu1026=)
c.1957T>C (p.Leu653=)
c.1219T>C (p.Leu407=)
c.2740T>C (p.Leu914=)
c.3004T>C (p.Leu1002=)
c.2129-661T>C (n.2129-661T>C)
n.3077T>C
n.3285T>C
c.2494T>C (p.Leu832=)
c.1519T>C (p.Leu507=)
c.2233T>C (p.Leu745=)
c.3211T>C (p.Leu1071=)
n.3029T>C
n.3237T>C
 gnomAD v4
1g.197434939T>GCA344045234CRB1c.3076T>G (p.Leu1026Val)
c.1957T>G (p.Leu653Val)
c.1219T>G (p.Leu407Val)
c.2740T>G (p.Leu914Val)
c.3004T>G (p.Leu1002Val)
c.2129-661T>G (n.2129-661T>G)
n.3077T>G
n.3285T>G
c.2494T>G (p.Leu832Val)
c.1519T>G (p.Leu507Val)
c.2233T>G (p.Leu745Val)
c.3211T>G (p.Leu1071Val)
n.3029T>G
n.3237T>G
1g.197434940T>ACA344045236CRB1c.3077T>A (p.Leu1026Ter)
c.1958T>A (p.Leu653Ter)
c.1220T>A (p.Leu407Ter)
c.2741T>A (p.Leu914Ter)
c.3005T>A (p.Leu1002Ter)
c.2129-660T>A (n.2129-660T>A)
n.3078T>A
n.3286T>A
c.2495T>A (p.Leu832Ter)
c.1520T>A (p.Leu507Ter)
c.2234T>A (p.Leu745Ter)
c.3212T>A (p.Leu1071Ter)
n.3030T>A
n.3238T>A
1g.197434940T>CCA344045239CRB1c.3077T>C (p.Leu1026Ser)
c.1958T>C (p.Leu653Ser)
c.1220T>C (p.Leu407Ser)
c.2741T>C (p.Leu914Ser)
c.3005T>C (p.Leu1002Ser)
c.2129-660T>C (n.2129-660T>C)
n.3078T>C
n.3286T>C
c.2495T>C (p.Leu832Ser)
c.1520T>C (p.Leu507Ser)
c.2234T>C (p.Leu745Ser)
c.3212T>C (p.Leu1071Ser)
n.3030T>C
n.3238T>C
 gnomAD v4
1g.197434940T>GCA344045242CRB1c.3077T>G (p.Leu1026Trp)
c.1958T>G (p.Leu653Trp)
c.1220T>G (p.Leu407Trp)
c.2741T>G (p.Leu914Trp)
c.3005T>G (p.Leu1002Trp)
c.2129-660T>G (n.2129-660T>G)
n.3078T>G
n.3286T>G
c.2495T>G (p.Leu832Trp)
c.1520T>G (p.Leu507Trp)
c.2234T>G (p.Leu745Trp)
c.3212T>G (p.Leu1071Trp)
n.3030T>G
n.3238T>G
1g.197434941G>ACA422808766CRB1c.3078G>A (p.Leu1026=)
c.1959G>A (p.Leu653=)
c.1221G>A (p.Leu407=)
c.2742G>A (p.Leu914=)
c.3006G>A (p.Leu1002=)
c.2129-659G>A (n.2129-659G>A)
n.3079G>A
n.3287G>A
c.2496G>A (p.Leu832=)
c.1521G>A (p.Leu507=)
c.2235G>A (p.Leu745=)
c.3213G>A (p.Leu1071=)
n.3031G>A
n.3239G>A
1g.197434941G>CCA344045247CRB1c.3078G>C (p.Leu1026Phe)
c.1959G>C (p.Leu653Phe)
c.1221G>C (p.Leu407Phe)
c.2742G>C (p.Leu914Phe)
c.3006G>C (p.Leu1002Phe)
c.2129-659G>C (n.2129-659G>C)
n.3079G>C
n.3287G>C
c.2496G>C (p.Leu832Phe)
c.1521G>C (p.Leu507Phe)
c.2235G>C (p.Leu745Phe)
c.3213G>C (p.Leu1071Phe)
n.3031G>C
n.3239G>C
1g.197434941G=CA1218068726CRB1c.3078G= (p.Leu1026=)
c.1959G= (p.Leu653=)
c.1221G= (p.Leu407=)
c.2742G= (p.Leu914=)
c.3006G= (p.Leu1002=)
c.2129-659G= (n.2129-659G=)
n.3079G=
n.3287G=
c.2496G= (p.Leu832=)
c.1521G= (p.Leu507=)
c.2235G= (p.Leu745=)
c.3213G= (p.Leu1071=)
n.3031G=
n.3239G=
1g.197434941G>TCA344045261CRB1c.3078G>T (p.Leu1026Phe)
c.1959G>T (p.Leu653Phe)
c.1221G>T (p.Leu407Phe)
c.2742G>T (p.Leu914Phe)
c.3006G>T (p.Leu1002Phe)
c.2129-659G>T (n.2129-659G>T)
n.3079G>T
n.3287G>T
c.2496G>T (p.Leu832Phe)
c.1521G>T (p.Leu507Phe)
c.2235G>T (p.Leu745Phe)
c.3213G>T (p.Leu1071Phe)
n.3031G>T
n.3239G>T
 dbSNP
1g.197434942C>ACA344045268CRB1c.3079C>A (p.Gln1027Lys)
c.1960C>A (p.Gln654Lys)
c.1222C>A (p.Gln408Lys)
c.2743C>A (p.Gln915Lys)
c.3007C>A (p.Gln1003Lys)
c.2129-658C>A (n.2129-658C>A)
n.3080C>A
n.3288C>A
c.2497C>A (p.Gln833Lys)
c.1522C>A (p.Gln508Lys)
c.2236C>A (p.Gln746Lys)
c.3214C>A (p.Gln1072Lys)
n.3032C>A
n.3240C>A
1g.197434942C>GCA344045271CRB1c.3079C>G (p.Gln1027Glu)
c.1960C>G (p.Gln654Glu)
c.1222C>G (p.Gln408Glu)
c.2743C>G (p.Gln915Glu)
c.3007C>G (p.Gln1003Glu)
c.2129-658C>G (n.2129-658C>G)
n.3080C>G
n.3288C>G
c.2497C>G (p.Gln833Glu)
c.1522C>G (p.Gln508Glu)
c.2236C>G (p.Gln746Glu)
c.3214C>G (p.Gln1072Glu)
n.3032C>G
n.3240C>G
1g.197434942C>TCA344045274CRB1c.3079C>T (p.Gln1027Ter)
c.1960C>T (p.Gln654Ter)
c.1222C>T (p.Gln408Ter)
c.2743C>T (p.Gln915Ter)
c.3007C>T (p.Gln1003Ter)
c.2129-658C>T (n.2129-658C>T)
n.3080C>T
n.3288C>T
c.2497C>T (p.Gln833Ter)
c.1522C>T (p.Gln508Ter)
c.2236C>T (p.Gln746Ter)
c.3214C>T (p.Gln1072Ter)
n.3032C>T
n.3240C>T
 COSMIC
1g.197434942_197434943delinsCACA1218068727CRB1c.3079_3080delinsCA (p.Gln1027=)
c.1960_1961delinsCA (p.Gln654=)
c.1222_1223delinsCA (p.Gln408=)
c.2743_2744delinsCA (p.Gln915=)
c.3007_3008delinsCA (p.Gln1003=)
c.2129-658_2129-657delinsCA (n.2129-658_2129-657delinsCA)
n.3080_3081delinsCA
n.3288_3289delinsCA
c.2497_2498delinsCA (p.Gln833=)
c.1522_1523delinsCA (p.Gln508=)
c.2236_2237delinsCA (p.Gln746=)
c.3214_3215delinsCA (p.Gln1072=)
n.3032_3033delinsCA
n.3240_3241delinsCA
1g.197434943delCA913189557CRB1c.3080del (p.Gln1027ArgfsTer3)
c.1961del (p.Gln654ArgfsTer3)
c.1223del (p.Gln408ArgfsTer3)
c.2744del (p.Gln915ArgfsTer3)
c.3008del (p.Gln1003ArgfsTer3)
c.2129-657del (n.2129-657del)
n.3081del
n.3289del
c.2498del (p.Gln833ArgfsTer3)
c.1523del (p.Gln508ArgfsTer3)
c.2237del (p.Gln746ArgfsTer3)
c.3215del (p.Gln1072ArgfsTer3)
n.3033del
n.3241del
 ClinVar dbSNP
1g.197434943A>CCA344045278CRB1c.3080A>C (p.Gln1027Pro)
c.1961A>C (p.Gln654Pro)
c.1223A>C (p.Gln408Pro)
c.2744A>C (p.Gln915Pro)
c.3008A>C (p.Gln1003Pro)
c.2129-657A>C (n.2129-657A>C)
n.3081A>C
n.3289A>C
c.2498A>C (p.Gln833Pro)
c.1523A>C (p.Gln508Pro)
c.2237A>C (p.Gln746Pro)
c.3215A>C (p.Gln1072Pro)
n.3033A>C
n.3241A>C
1g.197434943A>GCA344045280CRB1c.3080A>G (p.Gln1027Arg)
c.1961A>G (p.Gln654Arg)
c.1223A>G (p.Gln408Arg)
c.2744A>G (p.Gln915Arg)
c.3008A>G (p.Gln1003Arg)
c.2129-657A>G (n.2129-657A>G)
n.3081A>G
n.3289A>G
c.2498A>G (p.Gln833Arg)
c.1523A>G (p.Gln508Arg)
c.2237A>G (p.Gln746Arg)
c.3215A>G (p.Gln1072Arg)
n.3033A>G
n.3241A>G
1g.197434943A>TCA344045282CRB1c.3080A>T (p.Gln1027Leu)
c.1961A>T (p.Gln654Leu)
c.1223A>T (p.Gln408Leu)
c.2744A>T (p.Gln915Leu)
c.3008A>T (p.Gln1003Leu)
c.2129-657A>T (n.2129-657A>T)
n.3081A>T
n.3289A>T
c.2498A>T (p.Gln833Leu)
c.1523A>T (p.Gln508Leu)
c.2237A>T (p.Gln746Leu)
c.3215A>T (p.Gln1072Leu)
n.3033A>T
n.3241A>T
 ClinVar
1g.197434944G>ACA422808769CRB1c.3081G>A (p.Gln1027=)
c.1962G>A (p.Gln654=)
c.1224G>A (p.Gln408=)
c.2745G>A (p.Gln915=)
c.3009G>A (p.Gln1003=)
c.2129-656G>A (n.2129-656G>A)
n.3082G>A
n.3290G>A
c.2499G>A (p.Gln833=)
c.1524G>A (p.Gln508=)
c.2238G>A (p.Gln746=)
c.3216G>A (p.Gln1072=)
n.3034G>A
n.3242G>A
 dbSNP
1g.197434944G>CCA344045289CRB1c.3081G>C (p.Gln1027His)
c.1962G>C (p.Gln654His)
c.1224G>C (p.Gln408His)
c.2745G>C (p.Gln915His)
c.3009G>C (p.Gln1003His)
c.2129-656G>C (n.2129-656G>C)
n.3082G>C
n.3290G>C
c.2499G>C (p.Gln833His)
c.1524G>C (p.Gln508His)
c.2238G>C (p.Gln746His)
c.3216G>C (p.Gln1072His)
n.3034G>C
n.3242G>C
1g.197434944G=CA1218068728CRB1c.3081G= (p.Gln1027=)
c.1962G= (p.Gln654=)
c.1224G= (p.Gln408=)
c.2745G= (p.Gln915=)
c.3009G= (p.Gln1003=)
c.2129-656G= (n.2129-656G=)
n.3082G=
n.3290G=
c.2499G= (p.Gln833=)
c.1524G= (p.Gln508=)
c.2238G= (p.Gln746=)
c.3216G= (p.Gln1072=)
n.3034G=
n.3242G=
1g.197434944G>TCA344045286CRB1c.3081G>T (p.Gln1027His)
c.1962G>T (p.Gln654His)
c.1224G>T (p.Gln408His)
c.2745G>T (p.Gln915His)
c.3009G>T (p.Gln1003His)
c.2129-656G>T (n.2129-656G>T)
n.3082G>T
n.3290G>T
c.2499G>T (p.Gln833His)
c.1524G>T (p.Gln508His)
c.2238G>T (p.Gln746His)
c.3216G>T (p.Gln1072His)
n.3034G>T
n.3242G>T
 dbSNP gnomAD v2 gnomAD v4
1g.197434945T>ACA344045294CRB1c.3082T>A (p.Ser1028Thr)
c.1963T>A (p.Ser655Thr)
c.1225T>A (p.Ser409Thr)
c.2746T>A (p.Ser916Thr)
c.3010T>A (p.Ser1004Thr)
c.2129-655T>A (n.2129-655T>A)
n.3083T>A
n.3291T>A
c.2500T>A (p.Ser834Thr)
c.1525T>A (p.Ser509Thr)
c.2239T>A (p.Ser747Thr)
c.3217T>A (p.Ser1073Thr)
n.3035T>A
n.3243T>A
1g.197434945T>CCA344045300CRB1c.3082T>C (p.Ser1028Pro)
c.1963T>C (p.Ser655Pro)
c.1225T>C (p.Ser409Pro)
c.2746T>C (p.Ser916Pro)
c.3010T>C (p.Ser1004Pro)
c.2129-655T>C (n.2129-655T>C)
n.3083T>C
n.3291T>C
c.2500T>C (p.Ser834Pro)
c.1525T>C (p.Ser509Pro)
c.2239T>C (p.Ser747Pro)
c.3217T>C (p.Ser1073Pro)
n.3035T>C
n.3243T>C
 gnomAD v4
1g.197434945T>GCA344045299CRB1c.3082T>G (p.Ser1028Ala)
c.1963T>G (p.Ser655Ala)
c.1225T>G (p.Ser409Ala)
c.2746T>G (p.Ser916Ala)
c.3010T>G (p.Ser1004Ala)
c.2129-655T>G (n.2129-655T>G)
n.3083T>G
n.3291T>G
c.2500T>G (p.Ser834Ala)
c.1525T>G (p.Ser509Ala)
c.2239T>G (p.Ser747Ala)
c.3217T>G (p.Ser1073Ala)
n.3035T>G
n.3243T>G
1g.197434946C>ACA344045301CRB1c.3083C>A (p.Ser1028Ter)
c.1964C>A (p.Ser655Ter)
c.1226C>A (p.Ser409Ter)
c.2747C>A (p.Ser916Ter)
c.3011C>A (p.Ser1004Ter)
c.2129-654C>A (n.2129-654C>A)
n.3084C>A
n.3292C>A
c.2501C>A (p.Ser834Ter)
c.1526C>A (p.Ser509Ter)
c.2240C>A (p.Ser747Ter)
c.3218C>A (p.Ser1073Ter)
n.3036C>A
n.3244C>A
 gnomAD v4
1g.197434946C=CA1218068729CRB1c.3083C= (p.Ser1028=)
c.1964C= (p.Ser655=)
c.1226C= (p.Ser409=)
c.2747C= (p.Ser916=)
c.3011C= (p.Ser1004=)
c.2129-654C= (n.2129-654C=)
n.3084C=
n.3292C=
c.2501C= (p.Ser834=)
c.1526C= (p.Ser509=)
c.2240C= (p.Ser747=)
c.3218C= (p.Ser1073=)
n.3036C=
n.3244C=
1g.197434946C>GCA344045302CRB1c.3083C>G (p.Ser1028Ter)
c.1964C>G (p.Ser655Ter)
c.1226C>G (p.Ser409Ter)
c.2747C>G (p.Ser916Ter)
c.3011C>G (p.Ser1004Ter)
c.2129-654C>G (n.2129-654C>G)
n.3084C>G
n.3292C>G
c.2501C>G (p.Ser834Ter)
c.1526C>G (p.Ser509Ter)
c.2240C>G (p.Ser747Ter)
c.3218C>G (p.Ser1073Ter)
n.3036C>G
n.3244C>G
 dbSNP gnomAD v2 gnomAD v4
1g.197434946C>TCA344045304CRB1c.3083C>T (p.Ser1028Leu)
c.1964C>T (p.Ser655Leu)
c.1226C>T (p.Ser409Leu)
c.2747C>T (p.Ser916Leu)
c.3011C>T (p.Ser1004Leu)
c.2129-654C>T (n.2129-654C>T)
n.3084C>T
n.3292C>T
c.2501C>T (p.Ser834Leu)
c.1526C>T (p.Ser509Leu)
c.2240C>T (p.Ser747Leu)
c.3218C>T (p.Ser1073Leu)
n.3036C>T
n.3244C>T
1g.197434947A>CCA422808773CRB1c.3084A>C (p.Ser1028=)
c.1965A>C (p.Ser655=)
c.1227A>C (p.Ser409=)
c.2748A>C (p.Ser916=)
c.3012A>C (p.Ser1004=)
c.2129-653A>C (n.2129-653A>C)
n.3085A>C
n.3293A>C
c.2502A>C (p.Ser834=)
c.1527A>C (p.Ser509=)
c.2241A>C (p.Ser747=)
c.3219A>C (p.Ser1073=)
n.3037A>C
n.3245A>C
1g.197434947A>GCA422808774CRB1c.3084A>G (p.Ser1028=)
c.1965A>G (p.Ser655=)
c.1227A>G (p.Ser409=)
c.2748A>G (p.Ser916=)
c.3012A>G (p.Ser1004=)
c.2129-653A>G (n.2129-653A>G)
n.3085A>G
n.3293A>G
c.2502A>G (p.Ser834=)
c.1527A>G (p.Ser509=)
c.2241A>G (p.Ser747=)
c.3219A>G (p.Ser1073=)
n.3037A>G
n.3245A>G
1g.197434947A>TCA422808776CRB1c.3084A>T (p.Ser1028=)
c.1965A>T (p.Ser655=)
c.1227A>T (p.Ser409=)
c.2748A>T (p.Ser916=)
c.3012A>T (p.Ser1004=)
c.2129-653A>T (n.2129-653A>T)
n.3085A>T
n.3293A>T
c.2502A>T (p.Ser834=)
c.1527A>T (p.Ser509=)
c.2241A>T (p.Ser747=)
c.3219A>T (p.Ser1073=)
n.3037A>T
n.3245A>T
1g.197434948G>ACA1312270CRB1c.3085G>A (p.Val1029Met)
c.1966G>A (p.Val656Met)
c.1228G>A (p.Val410Met)
c.2749G>A (p.Val917Met)
c.3013G>A (p.Val1005Met)
c.2129-652G>A (n.2129-652G>A)
n.3086G>A
n.3294G>A
c.2503G>A (p.Val835Met)
c.1528G>A (p.Val510Met)
c.2242G>A (p.Val748Met)
c.3220G>A (p.Val1074Met)
n.3038G>A
n.3246G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434948G>CCA344045312CRB1c.3085G>C (p.Val1029Leu)
c.1966G>C (p.Val656Leu)
c.1228G>C (p.Val410Leu)
c.2749G>C (p.Val917Leu)
c.3013G>C (p.Val1005Leu)
c.2129-652G>C (n.2129-652G>C)
n.3086G>C
n.3294G>C
c.2503G>C (p.Val835Leu)
c.1528G>C (p.Val510Leu)
c.2242G>C (p.Val748Leu)
c.3220G>C (p.Val1074Leu)
n.3038G>C
n.3246G>C
1g.197434948G=CA1218068730CRB1c.3085G= (p.Val1029=)
c.1966G= (p.Val656=)
c.1228G= (p.Val410=)
c.2749G= (p.Val917=)
c.3013G= (p.Val1005=)
c.2129-652G= (n.2129-652G=)
n.3086G=
n.3294G=
c.2503G= (p.Val835=)
c.1528G= (p.Val510=)
c.2242G= (p.Val748=)
c.3220G= (p.Val1074=)
n.3038G=
n.3246G=
1g.197434948G>TCA344045316CRB1c.3085G>T (p.Val1029Leu)
c.1966G>T (p.Val656Leu)
c.1228G>T (p.Val410Leu)
c.2749G>T (p.Val917Leu)
c.3013G>T (p.Val1005Leu)
c.2129-652G>T (n.2129-652G>T)
n.3086G>T
n.3294G>T
c.2503G>T (p.Val835Leu)
c.1528G>T (p.Val510Leu)
c.2242G>T (p.Val748Leu)
c.3220G>T (p.Val1074Leu)
n.3038G>T
n.3246G>T

Number of alleles fetched