Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.123373481_123373578delCA2691589958CRB2c.2950_3047del (p.Val984ArgfsTer?)
c.1954_2051del (p.Val652ArgfsTer?)
n.2064_2161del
c.2923_3020del (p.Val975ArgfsTer?)
c.2755_2852del (p.Val919ArgfsTer?)
 gnomAD v4
9g.123373481_123373580delCA2691589962CRB2c.2950_3049del (p.Val984TrpfsTer?)
c.1954_2053del (p.Val652TrpfsTer?)
n.2064_2163del
c.2923_3022del (p.Val975TrpfsTer?)
c.2755_2854del (p.Val919TrpfsTer?)
 gnomAD v4
9g.123373480_123373578delCA2691589963CRB2c.2949_3047del (p.Val984_Arg1016del)
c.1953_2051del (p.Val652_Arg684del)
n.2063_2161del
c.2922_3020del (p.Val975_Arg1007del)
c.2754_2852del (p.Val919_Arg951del)
 gnomAD v4
9g.123373490_123373588delCA2691589964CRB2c.2959_3057del (p.Arg987_Leu1019del)
c.1963_2061del (p.Arg655_Leu687del)
n.2073_2171del
c.2932_3030del (p.Arg978_Leu1010del)
c.2764_2862del (p.Arg922_Leu954del)
 gnomAD v4
9g.123373499_123373597delCA2691589971CRB2c.2968_3066del (p.Ala990_Leu1022del)
c.1972_2070del (p.Ala658_Leu690del)
n.2082_2180del
c.2941_3039del (p.Ala981_Leu1013del)
c.2773_2871del (p.Ala925_Leu957del)
 gnomAD v4
9g.123373502_123373600delCA2691589980CRB2c.2971_3069del (p.Ser991_Pro1023del)
c.1975_2073del (p.Ser659_Pro691del)
n.2085_2183del
c.2944_3042del (p.Ser982_Pro1014del)
c.2776_2874del (p.Ser926_Pro958del)
 gnomAD v4
9g.123373521_123373547delCA2691589988CRB2c.2990_3016del (p.Gln997_Leu1005del)
c.1994_2020del (p.Gln665_Leu673del)
n.2104_2130del
c.2963_2989del (p.Gln988_Leu996del)
c.2795_2821del (p.Gln932_Leu940del)
 gnomAD v4
9g.123373536T>ACA374867849CRB2c.3005T>A (p.Val1002Glu)
c.2009T>A (p.Val670Glu)
n.2119T>A
c.2978T>A (p.Val993Glu)
c.2810T>A (p.Val937Glu)
 gnomAD v4
9g.123373536T>CCA374867850CRB2c.3005T>C (p.Val1002Ala)
c.2009T>C (p.Val670Ala)
n.2119T>C
c.2978T>C (p.Val993Ala)
c.2810T>C (p.Val937Ala)
 gnomAD v4
9g.123373536T>GCA374867851CRB2c.3005T>G (p.Val1002Gly)
c.2009T>G (p.Val670Gly)
n.2119T>G
c.2978T>G (p.Val993Gly)
c.2810T>G (p.Val937Gly)
 gnomAD v4
9g.123373537G>ACA467206651CRB2c.3006G>A (p.Val1002=)
c.2010G>A (p.Val670=)
n.2120G>A
c.2979G>A (p.Val993=)
c.2811G>A (p.Val937=)
 gnomAD v4
9g.123373537G>CCA467206653CRB2c.3006G>C (p.Val1002=)
c.2010G>C (p.Val670=)
n.2120G>C
c.2979G>C (p.Val993=)
c.2811G>C (p.Val937=)
9g.123373537G>TCA467206654CRB2c.3006G>T (p.Val1002=)
c.2010G>T (p.Val670=)
n.2120G>T
c.2979G>T (p.Val993=)
c.2811G>T (p.Val937=)
 gnomAD v4
9g.123373538C>ACA374867853CRB2c.3007C>A (p.Arg1003Ser)
c.2011C>A (p.Arg671Ser)
n.2121C>A
c.2980C>A (p.Arg994Ser)
c.2812C>A (p.Arg938Ser)
 gnomAD v4
9g.123373538C=CA1877938839CRB2c.3007C= (p.Arg1003=)
c.2011C= (p.Arg671=)
n.2121C=
c.2980C= (p.Arg994=)
c.2812C= (p.Arg938=)
9g.123373538C>GCA374867852CRB2c.3007C>G (p.Arg1003Gly)
c.2011C>G (p.Arg671Gly)
n.2121C>G
c.2980C>G (p.Arg994Gly)
c.2812C>G (p.Arg938Gly)
 gnomAD v4
9g.123373538C>TCA5232336CRB2c.3007C>T (p.Arg1003Cys)
c.2011C>T (p.Arg671Cys)
n.2121C>T
c.2980C>T (p.Arg994Cys)
c.2812C>T (p.Arg938Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373539G>ACA199638984CRB2c.3008G>A (p.Arg1003His)
c.2012G>A (p.Arg671His)
n.2122G>A
c.2981G>A (p.Arg994His)
c.2813G>A (p.Arg938His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373539G>CCA374867854CRB2c.3008G>C (p.Arg1003Pro)
c.2012G>C (p.Arg671Pro)
n.2122G>C
c.2981G>C (p.Arg994Pro)
c.2813G>C (p.Arg938Pro)
 gnomAD v4
9g.123373539G=CA1877938845CRB2c.3008G= (p.Arg1003=)
c.2012G= (p.Arg671=)
n.2122G=
c.2981G= (p.Arg994=)
c.2813G= (p.Arg938=)
9g.123373539G>TCA374867855CRB2c.3008G>T (p.Arg1003Leu)
c.2012G>T (p.Arg671Leu)
n.2122G>T
c.2981G>T (p.Arg994Leu)
c.2813G>T (p.Arg938Leu)
 gnomAD v4
9g.123373540C>ACA467206659CRB2c.3009C>A (p.Arg1003=)
c.2013C>A (p.Arg671=)
n.2123C>A
c.2982C>A (p.Arg994=)
c.2814C>A (p.Arg938=)
 gnomAD v4
9g.123373540C>GCA467206661CRB2c.3009C>G (p.Arg1003=)
c.2013C>G (p.Arg671=)
n.2123C>G
c.2982C>G (p.Arg994=)
c.2814C>G (p.Arg938=)
 gnomAD v4
9g.123373540C>TCA467206663CRB2c.3009C>T (p.Arg1003=)
c.2013C>T (p.Arg671=)
n.2123C>T
c.2982C>T (p.Arg994=)
c.2814C>T (p.Arg938=)
 gnomAD v4
9g.123373541A=CA1877938849CRB2c.3010A= (p.Ile1004=)
c.2014A= (p.Ile672=)
n.2124A=
c.2983A= (p.Ile995=)
c.2815A= (p.Ile939=)
9g.123373541A>CCA374867856CRB2c.3010A>C (p.Ile1004Leu)
c.2014A>C (p.Ile672Leu)
n.2124A>C
c.2983A>C (p.Ile995Leu)
c.2815A>C (p.Ile939Leu)
9g.123373541A>GCA5232337CRB2c.3010A>G (p.Ile1004Val)
c.2014A>G (p.Ile672Val)
n.2124A>G
c.2983A>G (p.Ile995Val)
c.2815A>G (p.Ile939Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123373541A>TCA374867857CRB2c.3010A>T (p.Ile1004Phe)
c.2014A>T (p.Ile672Phe)
n.2124A>T
c.2983A>T (p.Ile995Phe)
c.2815A>T (p.Ile939Phe)
 gnomAD v4
9g.123373542T>ACA374867858CRB2c.3011T>A (p.Ile1004Asn)
c.2015T>A (p.Ile672Asn)
n.2125T>A
c.2984T>A (p.Ile995Asn)
c.2816T>A (p.Ile939Asn)
9g.123373542T>CCA374867859CRB2c.3011T>C (p.Ile1004Thr)
c.2015T>C (p.Ile672Thr)
n.2125T>C
c.2984T>C (p.Ile995Thr)
c.2816T>C (p.Ile939Thr)
 gnomAD v4
9g.123373542T>GCA374867860CRB2c.3011T>G (p.Ile1004Ser)
c.2015T>G (p.Ile672Ser)
n.2125T>G
c.2984T>G (p.Ile995Ser)
c.2816T>G (p.Ile939Ser)
9g.123373543C>ACA5232338CRB2c.3012C>A (p.Ile1004=)
c.2016C>A (p.Ile672=)
n.2126C>A
c.2985C>A (p.Ile995=)
c.2817C>A (p.Ile939=)
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.123373543C=CA1877938855CRB2c.3012C= (p.Ile1004=)
c.2016C= (p.Ile672=)
n.2126C=
c.2985C= (p.Ile995=)
c.2817C= (p.Ile939=)
9g.123373543C>GCA374867861CRB2c.3012C>G (p.Ile1004Met)
c.2016C>G (p.Ile672Met)
n.2126C>G
c.2985C>G (p.Ile995Met)
c.2817C>G (p.Ile939Met)
9g.123373543C>TCA467206666CRB2c.3012C>T (p.Ile1004=)
c.2016C>T (p.Ile672=)
n.2126C>T
c.2985C>T (p.Ile995=)
c.2817C>T (p.Ile939=)
 dbSNP gnomAD v3 gnomAD v4
9g.123373544C>ACA374867862CRB2c.3013C>A (p.Leu1005Met)
c.2017C>A (p.Leu673Met)
n.2127C>A
c.2986C>A (p.Leu996Met)
c.2818C>A (p.Leu940Met)
 dbSNP gnomAD v2 gnomAD v4
9g.123373544C=CA1877938861CRB2c.3013C= (p.Leu1005=)
c.2017C= (p.Leu673=)
n.2127C=
c.2986C= (p.Leu996=)
c.2818C= (p.Leu940=)
9g.123373544C>GCA374867863CRB2c.3013C>G (p.Leu1005Val)
c.2017C>G (p.Leu673Val)
n.2127C>G
c.2986C>G (p.Leu996Val)
c.2818C>G (p.Leu940Val)
9g.123373544C>TCA467206667CRB2c.3013C>T (p.Leu1005=)
c.2017C>T (p.Leu673=)
n.2127C>T
c.2986C>T (p.Leu996=)
c.2818C>T (p.Leu940=)
 gnomAD v4
9g.123373545delCA2691590011CRB2c.3014del (p.Leu1005ArgfsTer?)
c.2018del (p.Leu673ArgfsTer?)
n.2128del
c.2987del (p.Leu996ArgfsTer?)
c.2819del (p.Leu940ArgfsTer?)
 gnomAD v4
9g.123373545T>ACA374867864CRB2c.3014T>A (p.Leu1005Gln)
c.2018T>A (p.Leu673Gln)
n.2128T>A
c.2987T>A (p.Leu996Gln)
c.2819T>A (p.Leu940Gln)
9g.123373545T>CCA374867865CRB2c.3014T>C (p.Leu1005Pro)
c.2018T>C (p.Leu673Pro)
n.2128T>C
c.2987T>C (p.Leu996Pro)
c.2819T>C (p.Leu940Pro)
 dbSNP gnomAD v2 gnomAD v4
9g.123373545T>GCA374867866CRB2c.3014T>G (p.Leu1005Arg)
c.2018T>G (p.Leu673Arg)
n.2128T>G
c.2987T>G (p.Leu996Arg)
c.2819T>G (p.Leu940Arg)
9g.123373545T=CA1877938866CRB2c.3014T= (p.Leu1005=)
c.2018T= (p.Leu673=)
n.2128T=
c.2987T= (p.Leu996=)
c.2819T= (p.Leu940=)
9g.123373546delCA2691590014CRB2c.3015del (p.Leu1006TrpfsTer?)
c.2019del (p.Leu674TrpfsTer?)
n.2129del
c.2988del (p.Leu997TrpfsTer?)
c.2820del (p.Leu941TrpfsTer?)
 gnomAD v4
9g.123373546G>ACA5232339CRB2c.3015G>A (p.Leu1005=)
c.2019G>A (p.Leu673=)
n.2129G>A
c.2988G>A (p.Leu996=)
c.2820G>A (p.Leu940=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373546G>CCA467206674CRB2c.3015G>C (p.Leu1005=)
c.2019G>C (p.Leu673=)
n.2129G>C
c.2988G>C (p.Leu996=)
c.2820G>C (p.Leu940=)
 dbSNP gnomAD v4
9g.123373546G=CA1877938870CRB2c.3015G= (p.Leu1005=)
c.2019G= (p.Leu673=)
n.2129G=
c.2988G= (p.Leu996=)
c.2820G= (p.Leu940=)
9g.123373546G>TCA467206673CRB2c.3015G>T (p.Leu1005=)
c.2019G>T (p.Leu673=)
n.2129G>T
c.2988G>T (p.Leu996=)
c.2820G>T (p.Leu940=)
 gnomAD v4
9g.123373546_123373547delinsATCA2580079540CRB2c.3015_3016delinsAT (p.Leu1005=)
c.2019_2020delinsAT (p.Leu673=)
n.2129_2130delinsAT
c.2988_2989delinsAT (p.Leu996=)
c.2820_2821delinsAT (p.Leu940=)
 ClinVar
9g.123373547C>ACA374867867CRB2c.3016C>A (p.Leu1006Met)
c.2020C>A (p.Leu674Met)
n.2130C>A
c.2989C>A (p.Leu997Met)
c.2821C>A (p.Leu941Met)
 gnomAD v4
9g.123373547C=CA1877938874CRB2c.3016C= (p.Leu1006=)
c.2020C= (p.Leu674=)
n.2130C=
c.2989C= (p.Leu997=)
c.2821C= (p.Leu941=)
9g.123373547C>GCA374867868CRB2c.3016C>G (p.Leu1006Val)
c.2020C>G (p.Leu674Val)
n.2130C>G
c.2989C>G (p.Leu997Val)
c.2821C>G (p.Leu941Val)
 gnomAD v4
9g.123373547C>TCA5232340CRB2c.3016C>T (p.Leu1006=)
c.2020C>T (p.Leu674=)
n.2130C>T
c.2989C>T (p.Leu997=)
c.2821C>T (p.Leu941=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373548T>ACA374867869CRB2c.3017T>A (p.Leu1006Gln)
c.2021T>A (p.Leu674Gln)
n.2131T>A
c.2990T>A (p.Leu997Gln)
c.2822T>A (p.Leu941Gln)
 gnomAD v4
9g.123373548T>CCA374867870CRB2c.3017T>C (p.Leu1006Pro)
c.2021T>C (p.Leu674Pro)
n.2131T>C
c.2990T>C (p.Leu997Pro)
c.2822T>C (p.Leu941Pro)
 gnomAD v4
9g.123373548T>GCA374867871CRB2c.3017T>G (p.Leu1006Arg)
c.2021T>G (p.Leu674Arg)
n.2131T>G
c.2990T>G (p.Leu997Arg)
c.2822T>G (p.Leu941Arg)
9g.123373549G>ACA467206677CRB2c.3018G>A (p.Leu1006=)
c.2022G>A (p.Leu674=)
n.2132G>A
c.2991G>A (p.Leu997=)
c.2823G>A (p.Leu941=)
 dbSNP gnomAD v4
9g.123373549G>CCA467206678CRB2c.3018G>C (p.Leu1006=)
c.2022G>C (p.Leu674=)
n.2132G>C
c.2991G>C (p.Leu997=)
c.2823G>C (p.Leu941=)
 gnomAD v4
9g.123373549G=CA1877938878CRB2c.3018G= (p.Leu1006=)
c.2022G= (p.Leu674=)
n.2132G=
c.2991G= (p.Leu997=)
c.2823G= (p.Leu941=)
9g.123373549G>TCA467206679CRB2c.3018G>T (p.Leu1006=)
c.2022G>T (p.Leu674=)
n.2132G>T
c.2991G>T (p.Leu997=)
c.2823G>T (p.Leu941=)
 gnomAD v4
9g.123373550delCA2691590019CRB2c.3019del (p.Ala1007LeufsTer?)
c.2023del (p.Ala675LeufsTer?)
n.2133del
c.2992del (p.Ala998LeufsTer?)
c.2824del (p.Ala942LeufsTer?)
 gnomAD v4
9g.123373550G>ACA374867872CRB2c.3019G>A (p.Ala1007Thr)
c.2023G>A (p.Ala675Thr)
n.2133G>A
c.2992G>A (p.Ala998Thr)
c.2824G>A (p.Ala942Thr)
 gnomAD v4
9g.123373550G>CCA374867873CRB2c.3019G>C (p.Ala1007Pro)
c.2023G>C (p.Ala675Pro)
n.2133G>C
c.2992G>C (p.Ala998Pro)
c.2824G>C (p.Ala942Pro)
 gnomAD v4
9g.123373550G>TCA374867874CRB2c.3019G>T (p.Ala1007Ser)
c.2023G>T (p.Ala675Ser)
n.2133G>T
c.2992G>T (p.Ala998Ser)
c.2824G>T (p.Ala942Ser)
 gnomAD v4
9g.123373551C>ACA374867877CRB2c.3020C>A (p.Ala1007Asp)
c.2024C>A (p.Ala675Asp)
n.2134C>A
c.2993C>A (p.Ala998Asp)
c.2825C>A (p.Ala942Asp)
 gnomAD v4
9g.123373551C>GCA374867875CRB2c.3020C>G (p.Ala1007Gly)
c.2024C>G (p.Ala675Gly)
n.2134C>G
c.2993C>G (p.Ala998Gly)
c.2825C>G (p.Ala942Gly)
 gnomAD v4
9g.123373551C>TCA374867876CRB2c.3020C>T (p.Ala1007Val)
c.2024C>T (p.Ala675Val)
n.2134C>T
c.2993C>T (p.Ala998Val)
c.2825C>T (p.Ala942Val)
 gnomAD v4
9g.123373552T>ACA467206239CRB2c.3021T>A (p.Ala1007=)
c.2025T>A (p.Ala675=)
n.2135T>A
c.2994T>A (p.Ala998=)
c.2826T>A (p.Ala942=)
9g.123373552T>CCA5232341CRB2c.3021T>C (p.Ala1007=)
c.2025T>C (p.Ala675=)
n.2135T>C
c.2994T>C (p.Ala998=)
c.2826T>C (p.Ala942=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373552T>GCA199638999CRB2c.3021T>G (p.Ala1007=)
c.2025T>G (p.Ala675=)
n.2135T>G
c.2994T>G (p.Ala998=)
c.2826T>G (p.Ala942=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373552T=CA1877938888CRB2c.3021T= (p.Ala1007=)
c.2025T= (p.Ala675=)
n.2135T=
c.2994T= (p.Ala998=)
c.2826T= (p.Ala942=)
9g.123373553delCA2691590020CRB2c.3022del (p.Glu1008ArgfsTer?)
c.2026del (p.Glu676ArgfsTer?)
n.2136del
c.2995del (p.Glu999ArgfsTer?)
c.2827del (p.Glu943ArgfsTer?)
 gnomAD v4
9g.123373553G>ACA374867878CRB2c.3022G>A (p.Glu1008Lys)
c.2026G>A (p.Glu676Lys)
n.2136G>A
c.2995G>A (p.Glu999Lys)
c.2827G>A (p.Glu943Lys)
 gnomAD v4
9g.123373553G>CCA374867879CRB2c.3022G>C (p.Glu1008Gln)
c.2026G>C (p.Glu676Gln)
n.2136G>C
c.2995G>C (p.Glu999Gln)
c.2827G>C (p.Glu943Gln)
 gnomAD v4
9g.123373553G>TCA374867880CRB2c.3022G>T (p.Glu1008Ter)
c.2026G>T (p.Glu676Ter)
n.2136G>T
c.2995G>T (p.Glu999Ter)
c.2827G>T (p.Glu943Ter)
 gnomAD v4
9g.123373554A>CCA374867881CRB2c.3023A>C (p.Glu1008Ala)
c.2027A>C (p.Glu676Ala)
n.2137A>C
c.2996A>C (p.Glu999Ala)
c.2828A>C (p.Glu943Ala)
 gnomAD v4
9g.123373554A>GCA374867882CRB2c.3023A>G (p.Glu1008Gly)
c.2027A>G (p.Glu676Gly)
n.2137A>G
c.2996A>G (p.Glu999Gly)
c.2828A>G (p.Glu943Gly)
 gnomAD v4
9g.123373554A>TCA374867883CRB2c.3023A>T (p.Glu1008Val)
c.2027A>T (p.Glu676Val)
n.2137A>T
c.2996A>T (p.Glu999Val)
c.2828A>T (p.Glu943Val)
 gnomAD v4
9g.123373555G>ACA467206246CRB2c.3024G>A (p.Glu1008=)
c.2028G>A (p.Glu676=)
n.2138G>A
c.2997G>A (p.Glu999=)
c.2829G>A (p.Glu943=)
 dbSNP gnomAD v2 gnomAD v4
9g.123373555G>CCA374867884CRB2c.3024G>C (p.Glu1008Asp)
c.2028G>C (p.Glu676Asp)
n.2138G>C
c.2997G>C (p.Glu999Asp)
c.2829G>C (p.Glu943Asp)
 gnomAD v4
9g.123373555G=CA1877938899CRB2c.3024G= (p.Glu1008=)
c.2028G= (p.Glu676=)
n.2138G=
c.2997G= (p.Glu999=)
c.2829G= (p.Glu943=)
9g.123373555G>TCA374867885CRB2c.3024G>T (p.Glu1008Asp)
c.2028G>T (p.Glu676Asp)
n.2138G>T
c.2997G>T (p.Glu999Asp)
c.2829G>T (p.Glu943Asp)
 gnomAD v4
9g.123373556A>CCA374867886CRB2c.3025A>C (p.Asn1009His)
c.2029A>C (p.Asn677His)
n.2139A>C
c.2998A>C (p.Asn1000His)
c.2830A>C (p.Asn944His)
9g.123373556A>GCA374867887CRB2c.3025A>G (p.Asn1009Asp)
c.2029A>G (p.Asn677Asp)
n.2139A>G
c.2998A>G (p.Asn1000Asp)
c.2830A>G (p.Asn944Asp)
 gnomAD v4
9g.123373556A>TCA374867888CRB2c.3025A>T (p.Asn1009Tyr)
c.2029A>T (p.Asn677Tyr)
n.2139A>T
c.2998A>T (p.Asn1000Tyr)
c.2830A>T (p.Asn944Tyr)
9g.123373557A>CCA374867890CRB2c.3026A>C (p.Asn1009Thr)
c.2030A>C (p.Asn677Thr)
n.2140A>C
c.2999A>C (p.Asn1000Thr)
c.2831A>C (p.Asn944Thr)
9g.123373557A>GCA374867891CRB2c.3026A>G (p.Asn1009Ser)
c.2030A>G (p.Asn677Ser)
n.2140A>G
c.2999A>G (p.Asn1000Ser)
c.2831A>G (p.Asn944Ser)
 gnomAD v4
9g.123373557A>TCA374867889CRB2c.3026A>T (p.Asn1009Ile)
c.2030A>T (p.Asn677Ile)
n.2140A>T
c.2999A>T (p.Asn1000Ile)
c.2831A>T (p.Asn944Ile)
 gnomAD v4
9g.123373558C>ACA374867893CRB2c.3027C>A (p.Asn1009Lys)
c.2031C>A (p.Asn677Lys)
n.2141C>A
c.3000C>A (p.Asn1000Lys)
c.2832C>A (p.Asn944Lys)
 gnomAD v4
9g.123373558C>GCA374867892CRB2c.3027C>G (p.Asn1009Lys)
c.2031C>G (p.Asn677Lys)
n.2141C>G
c.3000C>G (p.Asn1000Lys)
c.2832C>G (p.Asn944Lys)
 gnomAD v4
9g.123373558C>TCA467206269CRB2c.3027C>T (p.Asn1009=)
c.2031C>T (p.Asn677=)
n.2141C>T
c.3000C>T (p.Asn1000=)
c.2832C>T (p.Asn944=)
 gnomAD v4
9g.123373559T>ACA374867896CRB2c.3028T>A (p.Phe1010Ile)
c.2032T>A (p.Phe678Ile)
n.2142T>A
c.3001T>A (p.Phe1001Ile)
c.2833T>A (p.Phe945Ile)
 gnomAD v4
9g.123373559T>CCA374867894CRB2c.3028T>C (p.Phe1010Leu)
c.2032T>C (p.Phe678Leu)
n.2142T>C
c.3001T>C (p.Phe1001Leu)
c.2833T>C (p.Phe945Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373559T>GCA374867895CRB2c.3028T>G (p.Phe1010Val)
c.2032T>G (p.Phe678Val)
n.2142T>G
c.3001T>G (p.Phe1001Val)
c.2833T>G (p.Phe945Val)
9g.123373559T=CA1877938904CRB2c.3028T= (p.Phe1010=)
c.2032T= (p.Phe678=)
n.2142T=
c.3001T= (p.Phe1001=)
c.2833T= (p.Phe945=)
9g.123373560T>ACA374867897CRB2c.3029T>A (p.Phe1010Tyr)
c.2033T>A (p.Phe678Tyr)
n.2143T>A
c.3002T>A (p.Phe1001Tyr)
c.2834T>A (p.Phe945Tyr)
 gnomAD v4
9g.123373560T>CCA374867898CRB2c.3029T>C (p.Phe1010Ser)
c.2033T>C (p.Phe678Ser)
n.2143T>C
c.3002T>C (p.Phe1001Ser)
c.2834T>C (p.Phe945Ser)
 gnomAD v4
9g.123373560T>GCA374867899CRB2c.3029T>G (p.Phe1010Cys)
c.2033T>G (p.Phe678Cys)
n.2143T>G
c.3002T>G (p.Phe1001Cys)
c.2834T>G (p.Phe945Cys)
9g.123373561delCA2785875775CRB2c.3030del (p.Phe1010LeufsTer?)
c.2034del (p.Phe678LeufsTer?)
n.2144del
c.3003del (p.Phe1001LeufsTer?)
c.2835del (p.Phe945LeufsTer?)
9g.123373561C>ACA374867900CRB2c.3030C>A (p.Phe1010Leu)
c.2034C>A (p.Phe678Leu)
n.2144C>A
c.3003C>A (p.Phe1001Leu)
c.2835C>A (p.Phe945Leu)
 gnomAD v4
9g.123373561C>GCA374867901CRB2c.3030C>G (p.Phe1010Leu)
c.2034C>G (p.Phe678Leu)
n.2144C>G
c.3003C>G (p.Phe1001Leu)
c.2835C>G (p.Phe945Leu)
 gnomAD v4
9g.123373561C>TCA467206282CRB2c.3030C>T (p.Phe1010=)
c.2034C>T (p.Phe678=)
n.2144C>T
c.3003C>T (p.Phe1001=)
c.2835C>T (p.Phe945=)
 gnomAD v4
9g.123373562A>CCA374867902CRB2c.3031A>C (p.Thr1011Pro)
c.2035A>C (p.Thr679Pro)
n.2145A>C
c.3004A>C (p.Thr1002Pro)
c.2836A>C (p.Thr946Pro)
9g.123373562A>GCA374867903CRB2c.3031A>G (p.Thr1011Ala)
c.2035A>G (p.Thr679Ala)
n.2145A>G
c.3004A>G (p.Thr1002Ala)
c.2836A>G (p.Thr946Ala)
 gnomAD v4
9g.123373562A>TCA374867904CRB2c.3031A>T (p.Thr1011Ser)
c.2035A>T (p.Thr679Ser)
n.2145A>T
c.3004A>T (p.Thr1002Ser)
c.2836A>T (p.Thr946Ser)
9g.123373563C>ACA374867905CRB2c.3032C>A (p.Thr1011Asn)
c.2036C>A (p.Thr679Asn)
n.2146C>A
c.3005C>A (p.Thr1002Asn)
c.2837C>A (p.Thr946Asn)
 gnomAD v4
9g.123373563C=CA1877938908CRB2c.3032C= (p.Thr1011=)
c.2036C= (p.Thr679=)
n.2146C=
c.3005C= (p.Thr1002=)
c.2837C= (p.Thr946=)
9g.123373563C>GCA374867906CRB2c.3032C>G (p.Thr1011Ser)
c.2036C>G (p.Thr679Ser)
n.2146C>G
c.3005C>G (p.Thr1002Ser)
c.2837C>G (p.Thr946Ser)
 gnomAD v4
9g.123373563C>TCA5232342CRB2c.3032C>T (p.Thr1011Ile)
c.2036C>T (p.Thr679Ile)
n.2146C>T
c.3005C>T (p.Thr1002Ile)
c.2837C>T (p.Thr946Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373564C>ACA199639008CRB2c.3033C>A (p.Thr1011=)
c.2037C>A (p.Thr679=)
n.2147C>A
c.3006C>A (p.Thr1002=)
c.2838C>A (p.Thr946=)
 dbSNP gnomAD v2 gnomAD v4
9g.123373564C=CA1877938915CRB2c.3033C= (p.Thr1011=)
c.2037C= (p.Thr679=)
n.2147C=
c.3006C= (p.Thr1002=)
c.2838C= (p.Thr946=)
9g.123373564C>GCA467206294CRB2c.3033C>G (p.Thr1011=)
c.2037C>G (p.Thr679=)
n.2147C>G
c.3006C>G (p.Thr1002=)
c.2838C>G (p.Thr946=)
9g.123373564C>TCA5232343CRB2c.3033C>T (p.Thr1011=)
c.2037C>T (p.Thr679=)
n.2147C>T
c.3006C>T (p.Thr1002=)
c.2838C>T (p.Thr946=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373565G>ACA374867907CRB2c.3034G>A (p.Gly1012Ser)
c.2038G>A (p.Gly680Ser)
n.2148G>A
c.3007G>A (p.Gly1003Ser)
c.2839G>A (p.Gly947Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.123373565G>CCA374867908CRB2c.3034G>C (p.Gly1012Arg)
c.2038G>C (p.Gly680Arg)
n.2148G>C
c.3007G>C (p.Gly1003Arg)
c.2839G>C (p.Gly947Arg)
 gnomAD v4
9g.123373565G=CA1877938927CRB2c.3034G= (p.Gly1012=)
c.2038G= (p.Gly680=)
n.2148G=
c.3007G= (p.Gly1003=)
c.2839G= (p.Gly947=)
9g.123373565G>TCA374867909CRB2c.3034G>T (p.Gly1012Cys)
c.2038G>T (p.Gly680Cys)
n.2148G>T
c.3007G>T (p.Gly1003Cys)
c.2839G>T (p.Gly947Cys)
 gnomAD v4
9g.123373566delCA2691590026CRB2c.3035del (p.Gly1012AlafsTer?)
c.2039del (p.Gly680AlafsTer?)
n.2149del
c.3008del (p.Gly1003AlafsTer?)
c.2840del (p.Gly947AlafsTer?)
 gnomAD v4
9g.123373566G>ACA374867910CRB2c.3035G>A (p.Gly1012Asp)
c.2039G>A (p.Gly680Asp)
n.2149G>A
c.3008G>A (p.Gly1003Asp)
c.2840G>A (p.Gly947Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.123373566G>CCA374867911CRB2c.3035G>C (p.Gly1012Ala)
c.2039G>C (p.Gly680Ala)
n.2149G>C
c.3008G>C (p.Gly1003Ala)
c.2840G>C (p.Gly947Ala)
9g.123373566G=CA1877938928CRB2c.3035G= (p.Gly1012=)
c.2039G= (p.Gly680=)
n.2149G=
c.3008G= (p.Gly1003=)
c.2840G= (p.Gly947=)
9g.123373566G>TCA374867912CRB2c.3035G>T (p.Gly1012Val)
c.2039G>T (p.Gly680Val)
n.2149G>T
c.3008G>T (p.Gly1003Val)
c.2840G>T (p.Gly947Val)
 gnomAD v4
9g.123373567C>ACA467206302CRB2c.3036C>A (p.Gly1012=)
c.2040C>A (p.Gly680=)
n.2150C>A
c.3009C>A (p.Gly1003=)
c.2841C>A (p.Gly947=)
 gnomAD v4
9g.123373567C>GCA467206307CRB2c.3036C>G (p.Gly1012=)
c.2040C>G (p.Gly680=)
n.2150C>G
c.3009C>G (p.Gly1003=)
c.2841C>G (p.Gly947=)
 gnomAD v4
9g.123373567C>TCA467206301CRB2c.3036C>T (p.Gly1012=)
c.2040C>T (p.Gly680=)
n.2150C>T
c.3009C>T (p.Gly1003=)
c.2841C>T (p.Gly947=)
 gnomAD v4
9g.123373568T>ACA374867913CRB2c.3037T>A (p.Cys1013Ser)
c.2041T>A (p.Cys681Ser)
n.2151T>A
c.3010T>A (p.Cys1004Ser)
c.2842T>A (p.Cys948Ser)
9g.123373568T>CCA374867914CRB2c.3037T>C (p.Cys1013Arg)
c.2041T>C (p.Cys681Arg)
n.2151T>C
c.3010T>C (p.Cys1004Arg)
c.2842T>C (p.Cys948Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373568T>GCA374867915CRB2c.3037T>G (p.Cys1013Gly)
c.2041T>G (p.Cys681Gly)
n.2151T>G
c.3010T>G (p.Cys1004Gly)
c.2842T>G (p.Cys948Gly)
9g.123373568T=CA1877938931CRB2c.3037T= (p.Cys1013=)
c.2041T= (p.Cys681=)
n.2151T=
c.3010T= (p.Cys1004=)
c.2842T= (p.Cys948=)
9g.123373569G>ACA374867916CRB2c.3038G>A (p.Cys1013Tyr)
c.2042G>A (p.Cys681Tyr)
n.2152G>A
c.3011G>A (p.Cys1004Tyr)
c.2843G>A (p.Cys948Tyr)
 gnomAD v4
9g.123373569G>CCA374867917CRB2c.3038G>C (p.Cys1013Ser)
c.2042G>C (p.Cys681Ser)
n.2152G>C
c.3011G>C (p.Cys1004Ser)
c.2843G>C (p.Cys948Ser)
9g.123373569G>TCA374867918CRB2c.3038G>T (p.Cys1013Phe)
c.2042G>T (p.Cys681Phe)
n.2152G>T
c.3011G>T (p.Cys1004Phe)
c.2843G>T (p.Cys948Phe)
 gnomAD v4
9g.123373570C>ACA374867919CRB2c.3039C>A (p.Cys1013Ter)
c.2043C>A (p.Cys681Ter)
n.2153C>A
c.3012C>A (p.Cys1004Ter)
c.2844C>A (p.Cys948Ter)
 gnomAD v4
9g.123373570C>GCA374867920CRB2c.3039C>G (p.Cys1013Trp)
c.2043C>G (p.Cys681Trp)
n.2153C>G
c.3012C>G (p.Cys1004Trp)
c.2844C>G (p.Cys948Trp)
9g.123373570C>TCA467206314CRB2c.3039C>T (p.Cys1013=)
c.2043C>T (p.Cys681=)
n.2153C>T
c.3012C>T (p.Cys1004=)
c.2844C>T (p.Cys948=)
 gnomAD v4
9g.123373571T>ACA374867921CRB2c.3040T>A (p.Leu1014Met)
c.2044T>A (p.Leu682Met)
n.2154T>A
c.3013T>A (p.Leu1005Met)
c.2845T>A (p.Leu949Met)
 gnomAD v4
9g.123373571T>CCA467206321CRB2c.3040T>C (p.Leu1014=)
c.2044T>C (p.Leu682=)
n.2154T>C
c.3013T>C (p.Leu1005=)
c.2845T>C (p.Leu949=)
 gnomAD v4
9g.123373571T>GCA374867922CRB2c.3040T>G (p.Leu1014Val)
c.2044T>G (p.Leu682Val)
n.2154T>G
c.3013T>G (p.Leu1005Val)
c.2845T>G (p.Leu949Val)
9g.123373572T>ACA374867923CRB2c.3041T>A (p.Leu1014Ter)
c.2045T>A (p.Leu682Ter)
n.2155T>A
c.3014T>A (p.Leu1005Ter)
c.2846T>A (p.Leu949Ter)
 gnomAD v4
9g.123373572T>CCA374867924CRB2c.3041T>C (p.Leu1014Ser)
c.2045T>C (p.Leu682Ser)
n.2155T>C
c.3014T>C (p.Leu1005Ser)
c.2846T>C (p.Leu949Ser)
 gnomAD v4
9g.123373572T>GCA5232344CRB2c.3041T>G (p.Leu1014Trp)
c.2045T>G (p.Leu682Trp)
n.2155T>G
c.3014T>G (p.Leu1005Trp)
c.2846T>G (p.Leu949Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123373572T=CA1877938935CRB2c.3041T= (p.Leu1014=)
c.2045T= (p.Leu682=)
n.2155T=
c.3014T= (p.Leu1005=)
c.2846T= (p.Leu949=)
9g.123373577_123373591delCA2691590029CRB2c.3046_3060del (p.Arg1016_Gly1020del)
c.2050_2064del (p.Arg684_Gly688del)
n.2160_2174del
c.3019_3033del (p.Arg1007_Gly1011del)
c.2851_2865del (p.Arg951_Gly955del)
 gnomAD v4
9g.123373573G>ACA467206327CRB2c.3042G>A (p.Leu1014=)
c.2046G>A (p.Leu682=)
n.2156G>A
c.3015G>A (p.Leu1005=)
c.2847G>A (p.Leu949=)
 gnomAD v4
9g.123373573G>CCA374867925CRB2c.3042G>C (p.Leu1014Phe)
c.2046G>C (p.Leu682Phe)
n.2156G>C
c.3015G>C (p.Leu1005Phe)
c.2847G>C (p.Leu949Phe)
 gnomAD v4
9g.123373573G=CA1877938941CRB2c.3042G= (p.Leu1014=)
c.2046G= (p.Leu682=)
n.2156G=
c.3015G= (p.Leu1005=)
c.2847G= (p.Leu949=)
9g.123373573G>TCA374867926CRB2c.3042G>T (p.Leu1014Phe)
c.2046G>T (p.Leu682Phe)
n.2156G>T
c.3015G>T (p.Leu1005Phe)
c.2847G>T (p.Leu949Phe)
 dbSNP gnomAD v2 gnomAD v4
9g.123373575delCA2691590030CRB2c.3044del (p.Gly1015AlafsTer?)
c.2048del (p.Gly683AlafsTer?)
n.2158del
c.3017del (p.Gly1006AlafsTer?)
c.2849del (p.Gly950AlafsTer?)
 gnomAD v4
9g.123373574G>ACA374867927CRB2c.3043G>A (p.Gly1015Ser)
c.2047G>A (p.Gly683Ser)
n.2157G>A
c.3016G>A (p.Gly1006Ser)
c.2848G>A (p.Gly950Ser)
 gnomAD v4
9g.123373574G>CCA374867928CRB2c.3043G>C (p.Gly1015Arg)
c.2047G>C (p.Gly683Arg)
n.2157G>C
c.3016G>C (p.Gly1006Arg)
c.2848G>C (p.Gly950Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373574G=CA1877938947CRB2c.3043G= (p.Gly1015=)
c.2047G= (p.Gly683=)
n.2157G=
c.3016G= (p.Gly1006=)
c.2848G= (p.Gly950=)
9g.123373574G>TCA374867929CRB2c.3043G>T (p.Gly1015Cys)
c.2047G>T (p.Gly683Cys)
n.2157G>T
c.3016G>T (p.Gly1006Cys)
c.2848G>T (p.Gly950Cys)
 gnomAD v4
9g.123373575G>ACA374867930CRB2c.3044G>A (p.Gly1015Asp)
c.2048G>A (p.Gly683Asp)
n.2158G>A
c.3017G>A (p.Gly1006Asp)
c.2849G>A (p.Gly950Asp)
 gnomAD v4
9g.123373575G>CCA374867931CRB2c.3044G>C (p.Gly1015Ala)
c.2048G>C (p.Gly683Ala)
n.2158G>C
c.3017G>C (p.Gly1006Ala)
c.2849G>C (p.Gly950Ala)
 gnomAD v4
9g.123373575G>TCA374867932CRB2c.3044G>T (p.Gly1015Val)
c.2048G>T (p.Gly683Val)
n.2158G>T
c.3017G>T (p.Gly1006Val)
c.2849G>T (p.Gly950Val)
 gnomAD v4
9g.123373576C>ACA467206339CRB2c.3045C>A (p.Gly1015=)
c.2049C>A (p.Gly683=)
n.2159C>A
c.3018C>A (p.Gly1006=)
c.2850C>A (p.Gly950=)
 gnomAD v4
9g.123373576C=CA1877938958CRB2c.3045C= (p.Gly1015=)
c.2049C= (p.Gly683=)
n.2159C=
c.3018C= (p.Gly1006=)
c.2850C= (p.Gly950=)
9g.123373576C>GCA467206340CRB2c.3045C>G (p.Gly1015=)
c.2049C>G (p.Gly683=)
n.2159C>G
c.3018C>G (p.Gly1006=)
c.2850C>G (p.Gly950=)
 gnomAD v4
9g.123373576C>TCA467206341CRB2c.3045C>T (p.Gly1015=)
c.2049C>T (p.Gly683=)
n.2159C>T
c.3018C>T (p.Gly1006=)
c.2850C>T (p.Gly950=)
 dbSNP gnomAD v2 gnomAD v4
9g.123373577delCA2691590033CRB2c.3046del (p.Arg1016AlafsTer?)
c.2050del (p.Arg684AlafsTer?)
n.2160del
c.3019del (p.Arg1007AlafsTer?)
c.2851del (p.Arg951AlafsTer?)
 gnomAD v4
9g.123373577C>ACA374867935CRB2c.3046C>A (p.Arg1016Ser)
c.2050C>A (p.Arg684Ser)
n.2160C>A
c.3019C>A (p.Arg1007Ser)
c.2851C>A (p.Arg951Ser)
 gnomAD v4
9g.123373577C=CA1877938961CRB2c.3046C= (p.Arg1016=)
c.2050C= (p.Arg684=)
n.2160C=
c.3019C= (p.Arg1007=)
c.2851C= (p.Arg951=)
9g.123373577C>GCA374867933CRB2c.3046C>G (p.Arg1016Gly)
c.2050C>G (p.Arg684Gly)
n.2160C>G
c.3019C>G (p.Arg1007Gly)
c.2851C>G (p.Arg951Gly)
 gnomAD v4
9g.123373577C>TCA374867934CRB2c.3046C>T (p.Arg1016Cys)
c.2050C>T (p.Arg684Cys)
n.2160C>T
c.3019C>T (p.Arg1007Cys)
c.2851C>T (p.Arg951Cys)
 dbSNP gnomAD v2 gnomAD v4
9g.123373578G>ACA374867936CRB2c.3047G>A (p.Arg1016His)
c.2051G>A (p.Arg684His)
n.2161G>A
c.3020G>A (p.Arg1007His)
c.2852G>A (p.Arg951His)
 dbSNP gnomAD v2 gnomAD v4
9g.123373578G>CCA374867937CRB2c.3047G>C (p.Arg1016Pro)
c.2051G>C (p.Arg684Pro)
n.2161G>C
c.3020G>C (p.Arg1007Pro)
c.2852G>C (p.Arg951Pro)
 gnomAD v4
9g.123373578G=CA1877938966CRB2c.3047G= (p.Arg1016=)
c.2051G= (p.Arg684=)
n.2161G=
c.3020G= (p.Arg1007=)
c.2852G= (p.Arg951=)
9g.123373578G>TCA374867938CRB2c.3047G>T (p.Arg1016Leu)
c.2051G>T (p.Arg684Leu)
n.2161G>T
c.3020G>T (p.Arg1007Leu)
c.2852G>T (p.Arg951Leu)
 dbSNP gnomAD v4
9g.123373579C>ACA467206349CRB2c.3048C>A (p.Arg1016=)
c.2052C>A (p.Arg684=)
n.2162C>A
c.3021C>A (p.Arg1007=)
c.2853C>A (p.Arg951=)
 gnomAD v4
9g.123373579C=CA1877938972CRB2c.3048C= (p.Arg1016=)
c.2052C= (p.Arg684=)
n.2162C=
c.3021C= (p.Arg1007=)
c.2853C= (p.Arg951=)
9g.123373579C>GCA467206350CRB2c.3048C>G (p.Arg1016=)
c.2052C>G (p.Arg684=)
n.2162C>G
c.3021C>G (p.Arg1007=)
c.2853C>G (p.Arg951=)
 gnomAD v4
9g.123373579C>TCA199639017CRB2c.3048C>T (p.Arg1016=)
c.2052C>T (p.Arg684=)
n.2162C>T
c.3021C>T (p.Arg1007=)
c.2853C>T (p.Arg951=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373580G>ACA374867939CRB2c.3049G>A (p.Val1017Met)
c.2053G>A (p.Val685Met)
n.2163G>A
c.3022G>A (p.Val1008Met)
c.2854G>A (p.Val952Met)
 gnomAD v4
9g.123373580G>CCA374867940CRB2c.3049G>C (p.Val1017Leu)
c.2053G>C (p.Val685Leu)
n.2163G>C
c.3022G>C (p.Val1008Leu)
c.2854G>C (p.Val952Leu)
9g.123373580G>TCA374867941CRB2c.3049G>T (p.Val1017Leu)
c.2053G>T (p.Val685Leu)
n.2163G>T
c.3022G>T (p.Val1008Leu)
c.2854G>T (p.Val952Leu)
 gnomAD v4
9g.123373580_123373607delinsGTGGCGCTGGGCGGCCTGCCCCTGCCCTCA1877938977CRB2c.3049_3076delinsGTGGCGCTGGGCGGCCTGCCCCTGCCCT (p.Val1017=)
c.2053_2080delinsGTGGCGCTGGGCGGCCTGCCCCTGCCCT (p.Val685=)
n.2163_2190delinsGTGGCGCTGGGCGGCCTGCCCCTGCCCT
c.3022_3049delinsGTGGCGCTGGGCGGCCTGCCCCTGCCCT (p.Val1008=)
c.2854_2881delinsGTGGCGCTGGGCGGCCTGCCCCTGCCCT (p.Val952=)
9g.123373581T>ACA374867942CRB2c.3050T>A (p.Val1017Glu)
c.2054T>A (p.Val685Glu)
n.2164T>A
c.3023T>A (p.Val1008Glu)
c.2855T>A (p.Val952Glu)
 dbSNP
9g.123373581T>CCA374867943CRB2c.3050T>C (p.Val1017Ala)
c.2054T>C (p.Val685Ala)
n.2164T>C
c.3023T>C (p.Val1008Ala)
c.2855T>C (p.Val952Ala)
 gnomAD v4
9g.123373581T>GCA374867944CRB2c.3050T>G (p.Val1017Gly)
c.2054T>G (p.Val685Gly)
n.2164T>G
c.3023T>G (p.Val1008Gly)
c.2855T>G (p.Val952Gly)
 dbSNP gnomAD v3 gnomAD v4
9g.123373581T=CA1877938985CRB2c.3050T= (p.Val1017=)
c.2054T= (p.Val685=)
n.2164T=
c.3023T= (p.Val1008=)
c.2855T= (p.Val952=)
9g.123373587_123373613delCA1877938984CRB2c.3056_3082del (p.Leu1019_Ala1027del)
c.2060_2086del (p.Leu687_Ala695del)
n.2170_2196del
c.3029_3055del (p.Leu1010_Ala1018del)
c.2861_2887del (p.Leu954_Ala962del)
 dbSNP
9g.123373582G>ACA467206358CRB2c.3051G>A (p.Val1017=)
c.2055G>A (p.Val685=)
n.2165G>A
c.3024G>A (p.Val1008=)
c.2856G>A (p.Val952=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373582G>CCA467206360CRB2c.3051G>C (p.Val1017=)
c.2055G>C (p.Val685=)
n.2165G>C
c.3024G>C (p.Val1008=)
c.2856G>C (p.Val952=)
9g.123373582G=CA1877938988CRB2c.3051G= (p.Val1017=)
c.2055G= (p.Val685=)
n.2165G=
c.3024G= (p.Val1008=)
c.2856G= (p.Val952=)
9g.123373582G>TCA467206361CRB2c.3051G>T (p.Val1017=)
c.2055G>T (p.Val685=)
n.2165G>T
c.3024G>T (p.Val1008=)
c.2856G>T (p.Val952=)
 gnomAD v4
9g.123373583G>ACA374867945CRB2c.3052G>A (p.Ala1018Thr)
c.2056G>A (p.Ala686Thr)
n.2166G>A
c.3025G>A (p.Ala1009Thr)
c.2857G>A (p.Ala953Thr)
 gnomAD v4
9g.123373583G>CCA374867946CRB2c.3052G>C (p.Ala1018Pro)
c.2056G>C (p.Ala686Pro)
n.2166G>C
c.3025G>C (p.Ala1009Pro)
c.2857G>C (p.Ala953Pro)
9g.123373583G>TCA374867947CRB2c.3052G>T (p.Ala1018Ser)
c.2056G>T (p.Ala686Ser)
n.2166G>T
c.3025G>T (p.Ala1009Ser)
c.2857G>T (p.Ala953Ser)
 gnomAD v4
9g.123373584C>ACA374867948CRB2c.3053C>A (p.Ala1018Glu)
c.2057C>A (p.Ala686Glu)
n.2167C>A
c.3026C>A (p.Ala1009Glu)
c.2858C>A (p.Ala953Glu)
 dbSNP gnomAD v3 gnomAD v4
9g.123373584C=CA1877938990CRB2c.3053C= (p.Ala1018=)
c.2057C= (p.Ala686=)
n.2167C=
c.3026C= (p.Ala1009=)
c.2858C= (p.Ala953=)
9g.123373584C>GCA374867949CRB2c.3053C>G (p.Ala1018Gly)
c.2057C>G (p.Ala686Gly)
n.2167C>G
c.3026C>G (p.Ala1009Gly)
c.2858C>G (p.Ala953Gly)
9g.123373584C>TCA5232345CRB2c.3053C>T (p.Ala1018Val)
c.2057C>T (p.Ala686Val)
n.2167C>T
c.3026C>T (p.Ala1009Val)
c.2858C>T (p.Ala953Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373585G>ACA467206367CRB2c.3054G>A (p.Ala1018=)
c.2058G>A (p.Ala686=)
n.2168G>A
c.3027G>A (p.Ala1009=)
c.2859G>A (p.Ala953=)
 gnomAD v4
9g.123373585G>CCA467206368CRB2c.3054G>C (p.Ala1018=)
c.2058G>C (p.Ala686=)
n.2168G>C
c.3027G>C (p.Ala1009=)
c.2859G>C (p.Ala953=)
 gnomAD v4
9g.123373585G>TCA467206369CRB2c.3054G>T (p.Ala1018=)
c.2058G>T (p.Ala686=)
n.2168G>T
c.3027G>T (p.Ala1009=)
c.2859G>T (p.Ala953=)
 gnomAD v4
9g.123373586C>ACA374867951CRB2c.3055C>A (p.Leu1019Met)
c.2059C>A (p.Leu687Met)
n.2169C>A
c.3028C>A (p.Leu1010Met)
c.2860C>A (p.Leu954Met)
 gnomAD v4
9g.123373586C>GCA374867950CRB2c.3055C>G (p.Leu1019Val)
c.2059C>G (p.Leu687Val)
n.2169C>G
c.3028C>G (p.Leu1010Val)
c.2860C>G (p.Leu954Val)
9g.123373586C>TCA467206376CRB2c.3055C>T (p.Leu1019=)
c.2059C>T (p.Leu687=)
n.2169C>T
c.3028C>T (p.Leu1010=)
c.2860C>T (p.Leu954=)
 gnomAD v4
9g.123373587T>ACA374867952CRB2c.3056T>A (p.Leu1019Gln)
c.2060T>A (p.Leu687Gln)
n.2170T>A
c.3029T>A (p.Leu1010Gln)
c.2861T>A (p.Leu954Gln)
 gnomAD v4
9g.123373587T>CCA374867953CRB2c.3056T>C (p.Leu1019Pro)
c.2060T>C (p.Leu687Pro)
n.2170T>C
c.3029T>C (p.Leu1010Pro)
c.2861T>C (p.Leu954Pro)
 dbSNP gnomAD v4
9g.123373587T>GCA374867954CRB2c.3056T>G (p.Leu1019Arg)
c.2060T>G (p.Leu687Arg)
n.2170T>G
c.3029T>G (p.Leu1010Arg)
c.2861T>G (p.Leu954Arg)
9g.123373587T=CA1877938993CRB2c.3056T= (p.Leu1019=)
c.2060T= (p.Leu687=)
n.2170T=
c.3029T= (p.Leu1010=)
c.2861T= (p.Leu954=)
9g.123373588G>ACA467206378CRB2c.3057G>A (p.Leu1019=)
c.2061G>A (p.Leu687=)
n.2171G>A
c.3030G>A (p.Leu1010=)
c.2862G>A (p.Leu954=)
 dbSNP gnomAD v4
9g.123373588G>CCA467206380CRB2c.3057G>C (p.Leu1019=)
c.2061G>C (p.Leu687=)
n.2171G>C
c.3030G>C (p.Leu1010=)
c.2862G>C (p.Leu954=)
9g.123373588G=CA1877938996CRB2c.3057G= (p.Leu1019=)
c.2061G= (p.Leu687=)
n.2171G=
c.3030G= (p.Leu1010=)
c.2862G= (p.Leu954=)
9g.123373588G>TCA467206379CRB2c.3057G>T (p.Leu1019=)
c.2061G>T (p.Leu687=)
n.2171G>T
c.3030G>T (p.Leu1010=)
c.2862G>T (p.Leu954=)
 gnomAD v4
9g.123373590delCA2691590036CRB2c.3059del (p.Gly1020AlafsTer?)
c.2063del (p.Gly688AlafsTer?)
n.2173del
c.3032del (p.Gly1011AlafsTer?)
c.2864del (p.Gly955AlafsTer?)
 gnomAD v4
9g.123373589G>ACA374867955CRB2c.3058G>A (p.Gly1020Ser)
c.2062G>A (p.Gly688Ser)
n.2172G>A
c.3031G>A (p.Gly1011Ser)
c.2863G>A (p.Gly955Ser)
 gnomAD v4
9g.123373589G>CCA374867956CRB2c.3058G>C (p.Gly1020Arg)
c.2062G>C (p.Gly688Arg)
n.2172G>C
c.3031G>C (p.Gly1011Arg)
c.2863G>C (p.Gly955Arg)
 gnomAD v4
9g.123373589G>TCA374867957CRB2c.3058G>T (p.Gly1020Cys)
c.2062G>T (p.Gly688Cys)
n.2172G>T
c.3031G>T (p.Gly1011Cys)
c.2863G>T (p.Gly955Cys)
 gnomAD v4
9g.123373590G>ACA5232346CRB2c.3059G>A (p.Gly1020Asp)
c.2063G>A (p.Gly688Asp)
n.2173G>A
c.3032G>A (p.Gly1011Asp)
c.2864G>A (p.Gly955Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373590G>CCA374867958CRB2c.3059G>C (p.Gly1020Ala)
c.2063G>C (p.Gly688Ala)
n.2173G>C
c.3032G>C (p.Gly1011Ala)
c.2864G>C (p.Gly955Ala)
9g.123373590G=CA1877938999CRB2c.3059G= (p.Gly1020=)
c.2063G= (p.Gly688=)
n.2173G=
c.3032G= (p.Gly1011=)
c.2864G= (p.Gly955=)
9g.123373590G>TCA374867959CRB2c.3059G>T (p.Gly1020Val)
c.2063G>T (p.Gly688Val)
n.2173G>T
c.3032G>T (p.Gly1011Val)
c.2864G>T (p.Gly955Val)
 gnomAD v4
9g.123373596_123373617dupCA2691590037CRB2c.3065_3086dup (p.Arg1030AlafsTer?)
c.2069_2090dup (p.Arg698AlafsTer?)
n.2179_2200dup
c.3038_3059dup (p.Arg1021AlafsTer?)
c.2870_2891dup (p.Arg965AlafsTer?)
 gnomAD v4
9g.123373591delCA2691590039CRB2c.3060del (p.Gly1021AlafsTer?)
c.2064del (p.Gly689AlafsTer?)
n.2174del
c.3033del (p.Gly1012AlafsTer?)
c.2865del (p.Gly956AlafsTer?)
 gnomAD v4
9g.123373591C>ACA467206387CRB2c.3060C>A (p.Gly1020=)
c.2064C>A (p.Gly688=)
n.2174C>A
c.3033C>A (p.Gly1011=)
c.2865C>A (p.Gly955=)
 gnomAD v4
9g.123373591C=CA1877939005CRB2c.3060C= (p.Gly1020=)
c.2064C= (p.Gly688=)
n.2174C=
c.3033C= (p.Gly1011=)
c.2865C= (p.Gly955=)
9g.123373591C>GCA467206386CRB2c.3060C>G (p.Gly1020=)
c.2064C>G (p.Gly688=)
n.2174C>G
c.3033C>G (p.Gly1011=)
c.2865C>G (p.Gly955=)
 gnomAD v4
9g.123373591C>TCA467206385CRB2c.3060C>T (p.Gly1020=)
c.2064C>T (p.Gly688=)
n.2174C>T
c.3033C>T (p.Gly1011=)
c.2865C>T (p.Gly955=)
 dbSNP gnomAD v3 gnomAD v4
9g.123373596_123373623delCA2579446663CRB2c.3065_3092del (p.Leu1022ProfsTer?)
c.2069_2096del (p.Leu690ProfsTer?)
n.2179_2206del
c.3038_3065del (p.Leu1013ProfsTer?)
c.2870_2897del (p.Leu957ProfsTer?)
9g.123373592G>ACA5232347CRB2c.3061G>A (p.Gly1021Ser)
c.2065G>A (p.Gly689Ser)
n.2175G>A
c.3034G>A (p.Gly1012Ser)
c.2866G>A (p.Gly956Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373592G>CCA374867960CRB2c.3061G>C (p.Gly1021Arg)
c.2065G>C (p.Gly689Arg)
n.2175G>C
c.3034G>C (p.Gly1012Arg)
c.2866G>C (p.Gly956Arg)
 gnomAD v4
9g.123373592G=CA1877939008CRB2c.3061G= (p.Gly1021=)
c.2065G= (p.Gly689=)
n.2175G=
c.3034G= (p.Gly1012=)
c.2866G= (p.Gly956=)
9g.123373592G>TCA374867961CRB2c.3061G>T (p.Gly1021Cys)
c.2065G>T (p.Gly689Cys)
n.2175G>T
c.3034G>T (p.Gly1012Cys)
c.2866G>T (p.Gly956Cys)
 gnomAD v4
9g.123373593G>ACA374867964CRB2c.3062G>A (p.Gly1021Asp)
c.2066G>A (p.Gly689Asp)
n.2176G>A
c.3035G>A (p.Gly1012Asp)
c.2867G>A (p.Gly956Asp)
 gnomAD v4
9g.123373593G>CCA374867962CRB2c.3062G>C (p.Gly1021Ala)
c.2066G>C (p.Gly689Ala)
n.2176G>C
c.3035G>C (p.Gly1012Ala)
c.2867G>C (p.Gly956Ala)
9g.123373593G>TCA374867963CRB2c.3062G>T (p.Gly1021Val)
c.2066G>T (p.Gly689Val)
n.2176G>T
c.3035G>T (p.Gly1012Val)
c.2867G>T (p.Gly956Val)
 gnomAD v4
9g.123373594C>ACA467206389CRB2c.3063C>A (p.Gly1021=)
c.2067C>A (p.Gly689=)
n.2177C>A
c.3036C>A (p.Gly1012=)
c.2868C>A (p.Gly956=)
 gnomAD v4
9g.123373594C=CA1877939012CRB2c.3063C= (p.Gly1021=)
c.2067C= (p.Gly689=)
n.2177C=
c.3036C= (p.Gly1012=)
c.2868C= (p.Gly956=)
9g.123373594C>GCA467206391CRB2c.3063C>G (p.Gly1021=)
c.2067C>G (p.Gly689=)
n.2177C>G
c.3036C>G (p.Gly1012=)
c.2868C>G (p.Gly956=)
 dbSNP gnomAD v4
9g.123373594C>TCA5232348CRB2c.3063C>T (p.Gly1021=)
c.2067C>T (p.Gly689=)
n.2177C>T
c.3036C>T (p.Gly1012=)
c.2868C>T (p.Gly956=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373601_123373606dupCA2691590041CRB2c.3070_3075dup (p.Pro1025_Leu1026insLeuPro)
c.2074_2079dup (p.Pro693_Leu694insLeuPro)
n.2184_2189dup
c.3043_3048dup (p.Pro1016_Leu1017insLeuPro)
c.2875_2880dup (p.Pro960_Leu961insLeuPro)
 gnomAD v4
9g.123373595C>ACA374867965CRB2c.3064C>A (p.Leu1022Met)
c.2068C>A (p.Leu690Met)
n.2178C>A
c.3037C>A (p.Leu1013Met)
c.2869C>A (p.Leu957Met)
 gnomAD v4
9g.123373595C>GCA374867966CRB2c.3064C>G (p.Leu1022Val)
c.2068C>G (p.Leu690Val)
n.2178C>G
c.3037C>G (p.Leu1013Val)
c.2869C>G (p.Leu957Val)
9g.123373595C>TCA467206394CRB2c.3064C>T (p.Leu1022=)
c.2068C>T (p.Leu690=)
n.2178C>T
c.3037C>T (p.Leu1013=)
c.2869C>T (p.Leu957=)
 gnomAD v4
9g.123373596T>ACA374867967CRB2c.3065T>A (p.Leu1022Gln)
c.2069T>A (p.Leu690Gln)
n.2179T>A
c.3038T>A (p.Leu1013Gln)
c.2870T>A (p.Leu957Gln)
 gnomAD v4
9g.123373596T>CCA374867968CRB2c.3065T>C (p.Leu1022Pro)
c.2069T>C (p.Leu690Pro)
n.2179T>C
c.3038T>C (p.Leu1013Pro)
c.2870T>C (p.Leu957Pro)
 gnomAD v4
9g.123373596T>GCA374867969CRB2c.3065T>G (p.Leu1022Arg)
c.2069T>G (p.Leu690Arg)
n.2179T>G
c.3038T>G (p.Leu1013Arg)
c.2870T>G (p.Leu957Arg)
 gnomAD v4
9g.123373597G>ACA467206395CRB2c.3066G>A (p.Leu1022=)
c.2070G>A (p.Leu690=)
n.2180G>A
c.3039G>A (p.Leu1013=)
c.2871G>A (p.Leu957=)
 gnomAD v4
9g.123373597G>CCA467206396CRB2c.3066G>C (p.Leu1022=)
c.2070G>C (p.Leu690=)
n.2180G>C
c.3039G>C (p.Leu1013=)
c.2871G>C (p.Leu957=)
 gnomAD v4
9g.123373597G=CA1877939014CRB2c.3066G= (p.Leu1022=)
c.2070G= (p.Leu690=)
n.2180G=
c.3039G= (p.Leu1013=)
c.2871G= (p.Leu957=)
9g.123373597G>TCA467206397CRB2c.3066G>T (p.Leu1022=)
c.2070G>T (p.Leu690=)
n.2180G>T
c.3039G>T (p.Leu1013=)
c.2871G>T (p.Leu957=)
 dbSNP gnomAD v4
9g.123373602_123373619delCA2691590046CRB2c.3071_3088del (p.Leu1024_Pro1029del)
c.2075_2092del (p.Leu692_Pro697del)
n.2185_2202del
c.3044_3061del (p.Leu1015_Pro1020del)
c.2876_2893del (p.Leu959_Pro964del)
 gnomAD v4
9g.123373598C>ACA374867970CRB2c.3067C>A (p.Pro1023Thr)
c.2071C>A (p.Pro691Thr)
n.2181C>A
c.3040C>A (p.Pro1014Thr)
c.2872C>A (p.Pro958Thr)
 gnomAD v4
9g.123373598C=CA1877939019CRB2c.3067C= (p.Pro1023=)
c.2071C= (p.Pro691=)
n.2181C=
c.3040C= (p.Pro1014=)
c.2872C= (p.Pro958=)
9g.123373598C>GCA199639036CRB2c.3067C>G (p.Pro1023Ala)
c.2071C>G (p.Pro691Ala)
n.2181C>G
c.3040C>G (p.Pro1014Ala)
c.2872C>G (p.Pro958Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373598C>TCA374867971CRB2c.3067C>T (p.Pro1023Ser)
c.2071C>T (p.Pro691Ser)
n.2181C>T
c.3040C>T (p.Pro1014Ser)
c.2872C>T (p.Pro958Ser)
 dbSNP gnomAD v4
9g.123373601delCA2691590050CRB2c.3070del (p.Leu1024CysfsTer?)
c.2074del (p.Leu692CysfsTer?)
n.2184del
c.3043del (p.Leu1015CysfsTer?)
c.2875del (p.Leu959CysfsTer?)
 gnomAD v4
9g.123373599C>ACA374867972CRB2c.3068C>A (p.Pro1023His)
c.2072C>A (p.Pro691His)
n.2182C>A
c.3041C>A (p.Pro1014His)
c.2873C>A (p.Pro958His)
 gnomAD v4
9g.123373599C>GCA374867973CRB2c.3068C>G (p.Pro1023Arg)
c.2072C>G (p.Pro691Arg)
n.2182C>G
c.3041C>G (p.Pro1014Arg)
c.2873C>G (p.Pro958Arg)
9g.123373599C>TCA374867974CRB2c.3068C>T (p.Pro1023Leu)
c.2072C>T (p.Pro691Leu)
n.2182C>T
c.3041C>T (p.Pro1014Leu)
c.2873C>T (p.Pro958Leu)
 gnomAD v4
9g.123373600C>ACA467206405CRB2c.3069C>A (p.Pro1023=)
c.2073C>A (p.Pro691=)
n.2183C>A
c.3042C>A (p.Pro1014=)
c.2874C>A (p.Pro958=)
 gnomAD v4
9g.123373600C>GCA467206407CRB2c.3069C>G (p.Pro1023=)
c.2073C>G (p.Pro691=)
n.2183C>G
c.3042C>G (p.Pro1014=)
c.2874C>G (p.Pro958=)
9g.123373600C>TCA467206409CRB2c.3069C>T (p.Pro1023=)
c.2073C>T (p.Pro691=)
n.2183C>T
c.3042C>T (p.Pro1014=)
c.2874C>T (p.Pro958=)
 ClinVar dbSNP gnomAD v4
9g.123373601C>ACA374867975CRB2c.3070C>A (p.Leu1024Met)
c.2074C>A (p.Leu692Met)
n.2184C>A
c.3043C>A (p.Leu1015Met)
c.2875C>A (p.Leu959Met)
 gnomAD v4
9g.123373601C=CA1877939025CRB2c.3070C= (p.Leu1024=)
c.2074C= (p.Leu692=)
n.2184C=
c.3043C= (p.Leu1015=)
c.2875C= (p.Leu959=)
9g.123373601C>GCA5232349CRB2c.3070C>G (p.Leu1024Val)
c.2074C>G (p.Leu692Val)
n.2184C>G
c.3043C>G (p.Leu1015Val)
c.2875C>G (p.Leu959Val)
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.123373601C>TCA467206411CRB2c.3070C>T (p.Leu1024=)
c.2074C>T (p.Leu692=)
n.2184C>T
c.3043C>T (p.Leu1015=)
c.2875C>T (p.Leu959=)
 dbSNP gnomAD v2 gnomAD v4
9g.123373602T>ACA374867976CRB2c.3071T>A (p.Leu1024Gln)
c.2075T>A (p.Leu692Gln)
n.2185T>A
c.3044T>A (p.Leu1015Gln)
c.2876T>A (p.Leu959Gln)
9g.123373602T>CCA374867978CRB2c.3071T>C (p.Leu1024Pro)
c.2075T>C (p.Leu692Pro)
n.2185T>C
c.3044T>C (p.Leu1015Pro)
c.2876T>C (p.Leu959Pro)
 gnomAD v4
9g.123373602T>GCA374867977CRB2c.3071T>G (p.Leu1024Arg)
c.2075T>G (p.Leu692Arg)
n.2185T>G
c.3044T>G (p.Leu1015Arg)
c.2876T>G (p.Leu959Arg)
9g.123373603G>ACA467206412CRB2c.3072G>A (p.Leu1024=)
c.2076G>A (p.Leu692=)
n.2186G>A
c.3045G>A (p.Leu1015=)
c.2877G>A (p.Leu959=)
 gnomAD v4
9g.123373603G>CCA467206414CRB2c.3072G>C (p.Leu1024=)
c.2076G>C (p.Leu692=)
n.2186G>C
c.3045G>C (p.Leu1015=)
c.2877G>C (p.Leu959=)
9g.123373603G>TCA467206416CRB2c.3072G>T (p.Leu1024=)
c.2076G>T (p.Leu692=)
n.2186G>T
c.3045G>T (p.Leu1015=)
c.2877G>T (p.Leu959=)
 gnomAD v4
9g.123373607_123373624delCA2691590053CRB2c.3076_3093del (p.Leu1026_Pro1031del)
c.2080_2097del (p.Leu694_Pro699del)
n.2190_2207del
c.3049_3066del (p.Leu1017_Pro1022del)
c.2881_2898del (p.Leu961_Pro966del)
 gnomAD v4
9g.123373604C>ACA5232350CRB2c.3073C>A (p.Pro1025Thr)
c.2077C>A (p.Pro693Thr)
n.2187C>A
c.3046C>A (p.Pro1016Thr)
c.2878C>A (p.Pro960Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373604C=CA1877939029CRB2c.3073C= (p.Pro1025=)
c.2077C= (p.Pro693=)
n.2187C=
c.3046C= (p.Pro1016=)
c.2878C= (p.Pro960=)
9g.123373604C>GCA374867979CRB2c.3073C>G (p.Pro1025Ala)
c.2077C>G (p.Pro693Ala)
n.2187C>G
c.3046C>G (p.Pro1016Ala)
c.2878C>G (p.Pro960Ala)
9g.123373604C>TCA374867980CRB2c.3073C>T (p.Pro1025Ser)
c.2077C>T (p.Pro693Ser)
n.2187C>T
c.3046C>T (p.Pro1016Ser)
c.2878C>T (p.Pro960Ser)
 gnomAD v4
9g.123373605C>ACA374867981CRB2c.3074C>A (p.Pro1025His)
c.2078C>A (p.Pro693His)
n.2188C>A
c.3047C>A (p.Pro1016His)
c.2879C>A (p.Pro960His)
 gnomAD v4
9g.123373605C=CA1877939033CRB2c.3074C= (p.Pro1025=)
c.2078C= (p.Pro693=)
n.2188C=
c.3047C= (p.Pro1016=)
c.2879C= (p.Pro960=)
9g.123373605C>GCA374867982CRB2c.3074C>G (p.Pro1025Arg)
c.2078C>G (p.Pro693Arg)
n.2188C>G
c.3047C>G (p.Pro1016Arg)
c.2879C>G (p.Pro960Arg)
 dbSNP
9g.123373605C>TCA374867983CRB2c.3074C>T (p.Pro1025Leu)
c.2078C>T (p.Pro693Leu)
n.2188C>T
c.3047C>T (p.Pro1016Leu)
c.2879C>T (p.Pro960Leu)
 gnomAD v4
9g.123373606C>ACA467206422CRB2c.3075C>A (p.Pro1025=)
c.2079C>A (p.Pro693=)
n.2189C>A
c.3048C>A (p.Pro1016=)
c.2880C>A (p.Pro960=)
 gnomAD v4
9g.123373606C>GCA467206424CRB2c.3075C>G (p.Pro1025=)
c.2079C>G (p.Pro693=)
n.2189C>G
c.3048C>G (p.Pro1016=)
c.2880C>G (p.Pro960=)
 gnomAD v4
9g.123373606C>TCA467206426CRB2c.3075C>T (p.Pro1025=)
c.2079C>T (p.Pro693=)
n.2189C>T
c.3048C>T (p.Pro1016=)
c.2880C>T (p.Pro960=)
 gnomAD v4
9g.123373607_123373622delCA2691590058CRB2c.3076_3091del (p.Leu1026ProfsTer?)
c.2080_2095del (p.Leu694ProfsTer?)
n.2190_2205del
c.3049_3064del (p.Leu1017ProfsTer?)
c.2881_2896del (p.Leu961ProfsTer?)
 gnomAD v4
9g.123373607T>ACA374867984CRB2c.3076T>A (p.Leu1026Met)
c.2080T>A (p.Leu694Met)
n.2190T>A
c.3049T>A (p.Leu1017Met)
c.2881T>A (p.Leu961Met)
9g.123373607T>CCA467206429CRB2c.3076T>C (p.Leu1026=)
c.2080T>C (p.Leu694=)
n.2190T>C
c.3049T>C (p.Leu1017=)
c.2881T>C (p.Leu961=)
 gnomAD v4
9g.123373607T>GCA374867985CRB2c.3076T>G (p.Leu1026Val)
c.2080T>G (p.Leu694Val)
n.2190T>G
c.3049T>G (p.Leu1017Val)
c.2881T>G (p.Leu961Val)
9g.123373607_123373608delCA2579446664CRB2c.3076_3077del (p.Leu1026GlyfsTer?)
c.2080_2081del (p.Leu694GlyfsTer?)
n.2190_2191del
c.3049_3050del (p.Leu1017GlyfsTer?)
c.2881_2882del (p.Leu961GlyfsTer?)
9g.123373608T>ACA374867986CRB2c.3077T>A (p.Leu1026Ter)
c.2081T>A (p.Leu694Ter)
n.2191T>A
c.3050T>A (p.Leu1017Ter)
c.2882T>A (p.Leu961Ter)
 gnomAD v4
9g.123373608T>CCA374867987CRB2c.3077T>C (p.Leu1026Ser)
c.2081T>C (p.Leu694Ser)
n.2191T>C
c.3050T>C (p.Leu1017Ser)
c.2882T>C (p.Leu961Ser)
 gnomAD v4
9g.123373608T>GCA374867988CRB2c.3077T>G (p.Leu1026Trp)
c.2081T>G (p.Leu694Trp)
n.2191T>G
c.3050T>G (p.Leu1017Trp)
c.2882T>G (p.Leu961Trp)
9g.123373608_123373624delinsTGGCGCGGCCCCGGCCCCA1877939035CRB2c.3077_3093delinsTGGCGCGGCCCCGGCCC (p.Leu1026=)
c.2081_2097delinsTGGCGCGGCCCCGGCCC (p.Leu694=)
n.2191_2207delinsTGGCGCGGCCCCGGCCC
c.3050_3066delinsTGGCGCGGCCCCGGCCC (p.Leu1017=)
c.2882_2898delinsTGGCGCGGCCCCGGCCC (p.Leu961=)
9g.123373608_123373624dupCA2695211163CRB2c.3077_3093dup (p.Gly1032TrpfsTer?)
c.2081_2097dup (p.Gly700TrpfsTer?)
n.2191_2207dup
c.3050_3066dup (p.Gly1023TrpfsTer?)
c.2882_2898dup (p.Gly967TrpfsTer?)
9g.123373609G>ACA467206431CRB2c.3078G>A (p.Leu1026=)
c.2082G>A (p.Leu694=)
n.2192G>A
c.3051G>A (p.Leu1017=)
c.2883G>A (p.Leu961=)
 dbSNP gnomAD v2 gnomAD v4
9g.123373609G>CCA374867989CRB2c.3078G>C (p.Leu1026Phe)
c.2082G>C (p.Leu694Phe)
n.2192G>C
c.3051G>C (p.Leu1017Phe)
c.2883G>C (p.Leu961Phe)
9g.123373609G=CA1877939048CRB2c.3078G= (p.Leu1026=)
c.2082G= (p.Leu694=)
n.2192G=
c.3051G= (p.Leu1017=)
c.2883G= (p.Leu961=)
9g.123373609G>TCA5232351CRB2c.3078G>T (p.Leu1026Phe)
c.2082G>T (p.Leu694Phe)
n.2192G>T
c.3051G>T (p.Leu1017Phe)
c.2883G>T (p.Leu961Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.123373612_123373613insGGCCCCGGCCCGGCGCA2695211164CRB2c.3081_3082insGGCCCCGGCCCGGCG (p.Ala1027_Arg1028insGlyProGlyProAla)
c.2085_2086insGGCCCCGGCCCGGCG (p.Ala695_Arg696insGlyProGlyProAla)
n.2195_2196insGGCCCCGGCCCGGCG
c.3054_3055insGGCCCCGGCCCGGCG (p.Ala1018_Arg1019insGlyProGlyProAla)
c.2886_2887insGGCCCCGGCCCGGCG (p.Ala962_Arg963insGlyProGlyProAla)
9g.123373620_123373635dupCA10575686CRB2c.3089_3104dup (p.Gly1036AlafsTer?)
c.2093_2108dup (p.Gly704AlafsTer?)
n.2203_2218dup
c.3062_3077dup (p.Gly1027AlafsTer?)
c.2894_2909dup (p.Gly971AlafsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373620_123373635delCA590936291CRB2c.3089_3104del (p.Arg1030LeufsTer?)
c.2093_2108del (p.Arg698LeufsTer?)
n.2203_2218del
c.3062_3077del (p.Arg1021LeufsTer?)
c.2894_2909del (p.Arg965LeufsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373610G>ACA374867990CRB2c.3079G>A (p.Ala1027Thr)
c.2083G>A (p.Ala695Thr)
n.2193G>A
c.3052G>A (p.Ala1018Thr)
c.2884G>A (p.Ala962Thr)
 gnomAD v4
9g.123373610G>CCA374867991CRB2c.3079G>C (p.Ala1027Pro)
c.2083G>C (p.Ala695Pro)
n.2193G>C
c.3052G>C (p.Ala1018Pro)
c.2884G>C (p.Ala962Pro)
9g.123373610G>TCA374867992CRB2c.3079G>T (p.Ala1027Ser)
c.2083G>T (p.Ala695Ser)
n.2193G>T
c.3052G>T (p.Ala1018Ser)
c.2884G>T (p.Ala962Ser)
 gnomAD v4
9g.123373611C>ACA374867993CRB2c.3080C>A (p.Ala1027Glu)
c.2084C>A (p.Ala695Glu)
n.2194C>A
c.3053C>A (p.Ala1018Glu)
c.2885C>A (p.Ala962Glu)
 gnomAD v4
9g.123373611C=CA1877939053CRB2c.3080C= (p.Ala1027=)
c.2084C= (p.Ala695=)
n.2194C=
c.3053C= (p.Ala1018=)
c.2885C= (p.Ala962=)
9g.123373611C>GCA374867994CRB2c.3080C>G (p.Ala1027Gly)
c.2084C>G (p.Ala695Gly)
n.2194C>G
c.3053C>G (p.Ala1018Gly)
c.2885C>G (p.Ala962Gly)
 gnomAD v4
9g.123373611C>TCA5232352CRB2c.3080C>T (p.Ala1027Val)
c.2084C>T (p.Ala695Val)
n.2194C>T
c.3053C>T (p.Ala1018Val)
c.2885C>T (p.Ala962Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123373612G>ACA467206434CRB2c.3081G>A (p.Ala1027=)
c.2085G>A (p.Ala695=)
n.2195G>A
c.3054G>A (p.Ala1018=)
c.2886G>A (p.Ala962=)
 dbSNP gnomAD v2 gnomAD v4
9g.123373612G>CCA467206436CRB2c.3081G>C (p.Ala1027=)
c.2085G>C (p.Ala695=)
n.2195G>C
c.3054G>C (p.Ala1018=)
c.2886G>C (p.Ala962=)
9g.123373612G=CA1877939056CRB2c.3081G= (p.Ala1027=)
c.2085G= (p.Ala695=)
n.2195G=
c.3054G= (p.Ala1018=)
c.2886G= (p.Ala962=)
9g.123373612G>TCA467206437CRB2c.3081G>T (p.Ala1027=)
c.2085G>T (p.Ala695=)
n.2195G>T
c.3054G>T (p.Ala1018=)
c.2886G>T (p.Ala962=)
 gnomAD v4
9g.123373613C>ACA467206438CRB2c.3082C>A (p.Arg1028=)
c.2086C>A (p.Arg696=)
n.2196C>A
c.3055C>A (p.Arg1019=)
c.2887C>A (p.Arg963=)
 gnomAD v4
9g.123373613C=CA1877939059CRB2c.3082C= (p.Arg1028=)
c.2086C= (p.Arg696=)
n.2196C=
c.3055C= (p.Arg1019=)
c.2887C= (p.Arg963=)
9g.123373613C>GCA374867995CRB2c.3082C>G (p.Arg1028Gly)
c.2086C>G (p.Arg696Gly)
n.2196C>G
c.3055C>G (p.Arg1019Gly)
c.2887C>G (p.Arg963Gly)
 gnomAD v4
9g.123373613C>TCA374867996CRB2c.3082C>T (p.Arg1028Trp)
c.2086C>T (p.Arg696Trp)
n.2196C>T
c.3055C>T (p.Arg1019Trp)
c.2887C>T (p.Arg963Trp)
 dbSNP gnomAD v2 gnomAD v4
9g.123373619_123373624dupCA913142264CRB2c.3088_3093dup (p.Pro1031_Gly1032insArgPro)
c.2092_2097dup (p.Pro699_Gly700insArgPro)
n.2202_2207dup
c.3061_3066dup (p.Pro1022_Gly1023insArgPro)
c.2893_2898dup (p.Pro966_Gly967insArgPro)
 gnomAD v4
9g.123373614G>ACA374867997CRB2c.3083G>A (p.Arg1028Gln)
c.2087G>A (p.Arg696Gln)
n.2197G>A
c.3056G>A (p.Arg1019Gln)
c.2888G>A (p.Arg963Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373614G>CCA374867998CRB2c.3083G>C (p.Arg1028Pro)
c.2087G>C (p.Arg696Pro)
n.2197G>C
c.3056G>C (p.Arg1019Pro)
c.2888G>C (p.Arg963Pro)
9g.123373614G=CA1877939064CRB2c.3083G= (p.Arg1028=)
c.2087G= (p.Arg696=)
n.2197G=
c.3056G= (p.Arg1019=)
c.2888G= (p.Arg963=)
9g.123373614G>TCA374867999CRB2c.3083G>T (p.Arg1028Leu)
c.2087G>T (p.Arg696Leu)
n.2197G>T
c.3056G>T (p.Arg1019Leu)
c.2888G>T (p.Arg963Leu)
 dbSNP gnomAD v4
9g.123373615G>ACA467206443CRB2c.3084G>A (p.Arg1028=)
c.2088G>A (p.Arg696=)
n.2198G>A
c.3057G>A (p.Arg1019=)
c.2889G>A (p.Arg963=)
 dbSNP gnomAD v3 gnomAD v4
9g.123373615G>CCA467206445CRB2c.3084G>C (p.Arg1028=)
c.2088G>C (p.Arg696=)
n.2198G>C
c.3057G>C (p.Arg1019=)
c.2889G>C (p.Arg963=)
9g.123373615G=CA1877939069CRB2c.3084G= (p.Arg1028=)
c.2088G= (p.Arg696=)
n.2198G=
c.3057G= (p.Arg1019=)
c.2889G= (p.Arg963=)
9g.123373615G>TCA467206444CRB2c.3084G>T (p.Arg1028=)
c.2088G>T (p.Arg696=)
n.2198G>T
c.3057G>T (p.Arg1019=)
c.2889G>T (p.Arg963=)
 gnomAD v4
9g.123373615_123373616delinsGCCA1877939068CRB2c.3084_3085delinsGC (p.Arg1028=)
c.2088_2089delinsGC (p.Arg696=)
n.2198_2199delinsGC
c.3057_3058delinsGC (p.Arg1019=)
c.2889_2890delinsGC (p.Arg963=)
9g.123373615_123373632delinsGCCCCGGCCCGGCGCGGCCA1877939070CRB2c.3084_3101delinsGCCCCGGCCCGGCGCGGC (p.Arg1028=)
c.2088_2105delinsGCCCCGGCCCGGCGCGGC (p.Arg696=)
n.2198_2215delinsGCCCCGGCCCGGCGCGGC
c.3057_3074delinsGCCCCGGCCCGGCGCGGC (p.Arg1019=)
c.2889_2906delinsGCCCCGGCCCGGCGCGGC (p.Arg963=)
9g.123373616C>ACA374868000CRB2c.3085C>A (p.Pro1029Thr)
c.2089C>A (p.Pro697Thr)
n.2199C>A
c.3058C>A (p.Pro1020Thr)
c.2890C>A (p.Pro964Thr)
 gnomAD v4
9g.123373616C>GCA374868001CRB2c.3085C>G (p.Pro1029Ala)
c.2089C>G (p.Pro697Ala)
n.2199C>G
c.3058C>G (p.Pro1020Ala)
c.2890C>G (p.Pro964Ala)
9g.123373616C>TCA374868002CRB2c.3085C>T (p.Pro1029Ser)
c.2089C>T (p.Pro697Ser)
n.2199C>T
c.3058C>T (p.Pro1020Ser)
c.2890C>T (p.Pro964Ser)
 gnomAD v4
9g.123373619delCA590936292CRB2c.3088del (p.Arg1030GlyfsTer?)
c.2092del (p.Arg698GlyfsTer?)
n.2202del
c.3061del (p.Arg1021GlyfsTer?)
c.2893del (p.Arg965GlyfsTer?)
 dbSNP gnomAD v2 gnomAD v4
9g.123373619_123373635delCA1877939074CRB2c.3088_3104del (p.Arg1030TrpfsTer?)
c.2092_2108del (p.Arg698TrpfsTer?)
n.2202_2218del
c.3061_3077del (p.Arg1021TrpfsTer?)
c.2893_2909del (p.Arg965TrpfsTer?)
 dbSNP
9g.123373617C>ACA374868004CRB2c.3086C>A (p.Pro1029His)
c.2090C>A (p.Pro697His)
n.2200C>A
c.3059C>A (p.Pro1020His)
c.2891C>A (p.Pro964His)
 gnomAD v4
9g.123373617C=CA1877939079CRB2c.3086C= (p.Pro1029=)
c.2090C= (p.Pro697=)
n.2200C=
c.3059C= (p.Pro1020=)
c.2891C= (p.Pro964=)
9g.123373617C>GCA5232353CRB2c.3086C>G (p.Pro1029Arg)
c.2090C>G (p.Pro697Arg)
n.2200C>G
c.3059C>G (p.Pro1020Arg)
c.2891C>G (p.Pro964Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.123373617C>TCA374868003CRB2c.3086C>T (p.Pro1029Leu)
c.2090C>T (p.Pro697Leu)
n.2200C>T
c.3059C>T (p.Pro1020Leu)
c.2891C>T (p.Pro964Leu)
 gnomAD v4
9g.123373618C>ACA467206449CRB2c.3087C>A (p.Pro1029=)
c.2091C>A (p.Pro697=)
n.2201C>A
c.3060C>A (p.Pro1020=)
c.2892C>A (p.Pro964=)
 gnomAD v4
9g.123373618C=CA1877939084CRB2c.3087C= (p.Pro1029=)
c.2091C= (p.Pro697=)
n.2201C=
c.3060C= (p.Pro1020=)
c.2892C= (p.Pro964=)
9g.123373618C>GCA467206450CRB2c.3087C>G (p.Pro1029=)
c.2091C>G (p.Pro697=)
n.2201C>G
c.3060C>G (p.Pro1020=)
c.2892C>G (p.Pro964=)
9g.123373618C>TCA199639055CRB2c.3087C>T (p.Pro1029=)
c.2091C>T (p.Pro697=)
n.2201C>T
c.3060C>T (p.Pro1020=)
c.2892C>T (p.Pro964=)
 dbSNP gnomAD v3 gnomAD v4
9g.123373620_123373623delCA2691590072CRB2c.3089_3092del (p.Arg1030ProfsTer?)
c.2093_2096del (p.Arg698ProfsTer?)
n.2203_2206del
c.3062_3065del (p.Arg1021ProfsTer?)
c.2894_2897del (p.Arg965ProfsTer?)
 gnomAD v4
9g.123373619C>ACA467206452CRB2c.3088C>A (p.Arg1030=)
c.2092C>A (p.Arg698=)
n.2202C>A
c.3061C>A (p.Arg1021=)
c.2893C>A (p.Arg965=)
 gnomAD v4
9g.123373619C>GCA374868005CRB2c.3088C>G (p.Arg1030Gly)
c.2092C>G (p.Arg698Gly)
n.2202C>G
c.3061C>G (p.Arg1021Gly)
c.2893C>G (p.Arg965Gly)
 gnomAD v4
9g.123373619C>TCA374868006CRB2c.3088C>T (p.Arg1030Trp)
c.2092C>T (p.Arg698Trp)
n.2202C>T
c.3061C>T (p.Arg1021Trp)
c.2893C>T (p.Arg965Trp)
 gnomAD v4
9g.123373620_123373632delCA2691590073CRB2c.3089_3101del (p.Arg1030ProfsTer?)
c.2093_2105del (p.Arg698ProfsTer?)
n.2203_2215del
c.3062_3074del (p.Arg1021ProfsTer?)
c.2894_2906del (p.Arg965ProfsTer?)
 gnomAD v4
9g.123373625_123373634delCA2691590074CRB2c.3094_3103del (p.Gly1032LeufsTer?)
c.2098_2107del (p.Gly700LeufsTer?)
n.2208_2217del
c.3067_3076del (p.Gly1023LeufsTer?)
c.2899_2908del (p.Gly967LeufsTer?)
 gnomAD v4
9g.123373620G>ACA374868008CRB2c.3089G>A (p.Arg1030Gln)
c.2093G>A (p.Arg698Gln)
n.2203G>A
c.3062G>A (p.Arg1021Gln)
c.2894G>A (p.Arg965Gln)
 gnomAD v4
9g.123373620G>CCA374868007CRB2c.3089G>C (p.Arg1030Pro)
c.2093G>C (p.Arg698Pro)
n.2203G>C
c.3062G>C (p.Arg1021Pro)
c.2894G>C (p.Arg965Pro)
9g.123373620G=CA1877939087CRB2c.3089G= (p.Arg1030=)
c.2093G= (p.Arg698=)
n.2203G=
c.3062G= (p.Arg1021=)
c.2894G= (p.Arg965=)
9g.123373620G>TCA374868009CRB2c.3089G>T (p.Arg1030Leu)
c.2093G>T (p.Arg698Leu)
n.2203G>T
c.3062G>T (p.Arg1021Leu)
c.2894G>T (p.Arg965Leu)
 dbSNP gnomAD v4
9g.123373623_123373639delCA913142265CRB2c.3092_3108del (p.Pro1031ArgfsTer?)
c.2096_2112del (p.Pro699ArgfsTer?)
n.2206_2222del
c.3065_3081del (p.Pro1022ArgfsTer?)
c.2897_2913del (p.Pro966ArgfsTer?)
 gnomAD v4
9g.123373621G>ACA467206455CRB2c.3090G>A (p.Arg1030=)
c.2094G>A (p.Arg698=)
n.2204G>A
c.3063G>A (p.Arg1021=)
c.2895G>A (p.Arg965=)
 gnomAD v4
9g.123373621G>CCA467206458CRB2c.3090G>C (p.Arg1030=)
c.2094G>C (p.Arg698=)
n.2204G>C
c.3063G>C (p.Arg1021=)
c.2895G>C (p.Arg965=)
 gnomAD v4
9g.123373621G>TCA467206460CRB2c.3090G>T (p.Arg1030=)
c.2094G>T (p.Arg698=)
n.2204G>T
c.3063G>T (p.Arg1021=)
c.2895G>T (p.Arg965=)
 dbSNP gnomAD v4
9g.123373622_123373637delCA2691590076CRB2c.3091_3106del (p.Pro1031AlafsTer?)
c.2095_2110del (p.Pro699AlafsTer?)
n.2205_2220del
c.3064_3079del (p.Pro1022AlafsTer?)
c.2896_2911del (p.Pro966AlafsTer?)
 gnomAD v4
9g.123373622C>ACA199639058CRB2c.3091C>A (p.Pro1031Thr)
c.2095C>A (p.Pro699Thr)
n.2205C>A
c.3064C>A (p.Pro1022Thr)
c.2896C>A (p.Pro966Thr)
 dbSNP gnomAD v4
9g.123373622C=CA1877939093CRB2c.3091C= (p.Pro1031=)
c.2095C= (p.Pro699=)
n.2205C=
c.3064C= (p.Pro1022=)
c.2896C= (p.Pro966=)
9g.123373622C>GCA374868011CRB2c.3091C>G (p.Pro1031Ala)
c.2095C>G (p.Pro699Ala)
n.2205C>G
c.3064C>G (p.Pro1022Ala)
c.2896C>G (p.Pro966Ala)
 gnomAD v4
9g.123373622C>TCA374868010CRB2c.3091C>T (p.Pro1031Ser)
c.2095C>T (p.Pro699Ser)
n.2205C>T
c.3064C>T (p.Pro1022Ser)
c.2896C>T (p.Pro966Ser)
 gnomAD v4
9g.123373623C>ACA374868012CRB2c.3092C>A (p.Pro1031His)
c.2096C>A (p.Pro699His)
n.2206C>A
c.3065C>A (p.Pro1022His)
c.2897C>A (p.Pro966His)
 dbSNP gnomAD v2 gnomAD v4
9g.123373623C=CA1877939100CRB2c.3092C= (p.Pro1031=)
c.2096C= (p.Pro699=)
n.2206C=
c.3065C= (p.Pro1022=)
c.2897C= (p.Pro966=)
9g.123373623C>GCA374868014CRB2c.3092C>G (p.Pro1031Arg)
c.2096C>G (p.Pro699Arg)
n.2206C>G
c.3065C>G (p.Pro1022Arg)
c.2897C>G (p.Pro966Arg)
9g.123373623C>TCA374868013CRB2c.3092C>T (p.Pro1031Leu)
c.2096C>T (p.Pro699Leu)
n.2206C>T
c.3065C>T (p.Pro1022Leu)
c.2897C>T (p.Pro966Leu)
 gnomAD v4
9g.123373624C>ACA467206466CRB2c.3093C>A (p.Pro1031=)
c.2097C>A (p.Pro699=)
n.2207C>A
c.3066C>A (p.Pro1022=)
c.2898C>A (p.Pro966=)
 dbSNP gnomAD v4
9g.123373624C=CA1877939103CRB2c.3093C= (p.Pro1031=)
c.2097C= (p.Pro699=)
n.2207C=
c.3066C= (p.Pro1022=)
c.2898C= (p.Pro966=)
9g.123373624C>GCA467206464CRB2c.3093C>G (p.Pro1031=)
c.2097C>G (p.Pro699=)
n.2207C>G
c.3066C>G (p.Pro1022=)
c.2898C>G (p.Pro966=)
 gnomAD v4
9g.123373624C>TCA467206465CRB2c.3093C>T (p.Pro1031=)
c.2097C>T (p.Pro699=)
n.2207C>T
c.3066C>T (p.Pro1022=)
c.2898C>T (p.Pro966=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373628_123373632dupCA2691590081CRB2c.3097_3101dup (p.Pro1035ArgfsTer?)
c.2101_2105dup (p.Pro703ArgfsTer?)
n.2211_2215dup
c.3070_3074dup (p.Pro1026ArgfsTer?)
c.2902_2906dup (p.Pro970ArgfsTer?)
 gnomAD v4
9g.123373624_123373625insTTCA2691590084CRB2c.3093_3094insTT (p.Gly1032LeufsTer?)
c.2097_2098insTT (p.Gly700LeufsTer?)
n.2207_2208insTT
c.3066_3067insTT (p.Gly1023LeufsTer?)
c.2898_2899insTT (p.Gly967LeufsTer?)
 gnomAD v4
9g.123373625G>ACA199639062CRB2c.3094G>A (p.Gly1032Ser)
c.2098G>A (p.Gly700Ser)
n.2208G>A
c.3067G>A (p.Gly1023Ser)
c.2899G>A (p.Gly967Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373625G>CCA374868016CRB2c.3094G>C (p.Gly1032Arg)
c.2098G>C (p.Gly700Arg)
n.2208G>C
c.3067G>C (p.Gly1023Arg)
c.2899G>C (p.Gly967Arg)
 dbSNP gnomAD v2 gnomAD v4
9g.123373625G=CA1877939106CRB2c.3094G= (p.Gly1032=)
c.2098G= (p.Gly700=)
n.2208G=
c.3067G= (p.Gly1023=)
c.2899G= (p.Gly967=)
9g.123373625G>TCA374868015CRB2c.3094G>T (p.Gly1032Cys)
c.2098G>T (p.Gly700Cys)
n.2208G>T
c.3067G>T (p.Gly1023Cys)
c.2899G>T (p.Gly967Cys)
 gnomAD v4
9g.123373630_123373641delCA2691590083CRB2c.3099_3110del (p.Ala1034_Ala1037del)
c.2103_2114del (p.Ala702_Ala705del)
n.2213_2224del
c.3072_3083del (p.Ala1025_Ala1028del)
c.2904_2915del (p.Ala969_Ala972del)
 gnomAD v4
9g.123373626G>ACA374868017CRB2c.3095G>A (p.Gly1032Asp)
c.2099G>A (p.Gly700Asp)
n.2209G>A
c.3068G>A (p.Gly1023Asp)
c.2900G>A (p.Gly967Asp)
 gnomAD v4
9g.123373626G>CCA374868018CRB2c.3095G>C (p.Gly1032Ala)
c.2099G>C (p.Gly700Ala)
n.2209G>C
c.3068G>C (p.Gly1023Ala)
c.2900G>C (p.Gly967Ala)
 gnomAD v4
9g.123373626G>TCA374868019CRB2c.3095G>T (p.Gly1032Val)
c.2099G>T (p.Gly700Val)
n.2209G>T
c.3068G>T (p.Gly1023Val)
c.2900G>T (p.Gly967Val)
 gnomAD v4
9g.123373627C>ACA5232354CRB2c.3096C>A (p.Gly1032=)
c.2100C>A (p.Gly700=)
n.2210C>A
c.3069C>A (p.Gly1023=)
c.2901C>A (p.Gly967=)
 dbSNP ExAC gnomAD v4
9g.123373627C=CA1877939114CRB2c.3096C= (p.Gly1032=)
c.2100C= (p.Gly700=)
n.2210C=
c.3069C= (p.Gly1023=)
c.2901C= (p.Gly967=)
9g.123373627C>GCA467206474CRB2c.3096C>G (p.Gly1032=)
c.2100C>G (p.Gly700=)
n.2210C>G
c.3069C>G (p.Gly1023=)
c.2901C>G (p.Gly967=)
 gnomAD v4
9g.123373627C>TCA467206477CRB2c.3096C>T (p.Gly1032=)
c.2100C>T (p.Gly700=)
n.2210C>T
c.3069C>T (p.Gly1023=)
c.2901C>T (p.Gly967=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373628G>ACA199639065CRB2c.3097G>A (p.Ala1033Thr)
c.2101G>A (p.Ala701Thr)
n.2211G>A
c.3070G>A (p.Ala1024Thr)
c.2902G>A (p.Ala968Thr)
 dbSNP gnomAD v3 gnomAD v4
9g.123373628G>CCA374868020CRB2c.3097G>C (p.Ala1033Pro)
c.2101G>C (p.Ala701Pro)
n.2211G>C
c.3070G>C (p.Ala1024Pro)
c.2902G>C (p.Ala968Pro)
 gnomAD v4
9g.123373628G=CA1877939121CRB2c.3097G= (p.Ala1033=)
c.2101G= (p.Ala701=)
n.2211G=
c.3070G= (p.Ala1024=)
c.2902G= (p.Ala968=)
9g.123373628G>TCA374868021CRB2c.3097G>T (p.Ala1033Ser)
c.2101G>T (p.Ala701Ser)
n.2211G>T
c.3070G>T (p.Ala1024Ser)
c.2902G>T (p.Ala968Ser)
 gnomAD v4
9g.123373629C>ACA374868022CRB2c.3098C>A (p.Ala1033Glu)
c.2102C>A (p.Ala701Glu)
n.2212C>A
c.3071C>A (p.Ala1024Glu)
c.2903C>A (p.Ala968Glu)
 gnomAD v4
9g.123373629C=CA1877939128CRB2c.3098C= (p.Ala1033=)
c.2102C= (p.Ala701=)
n.2212C=
c.3071C= (p.Ala1024=)
c.2903C= (p.Ala968=)
9g.123373629C>GCA374868023CRB2c.3098C>G (p.Ala1033Gly)
c.2102C>G (p.Ala701Gly)
n.2212C>G
c.3071C>G (p.Ala1024Gly)
c.2903C>G (p.Ala968Gly)
9g.123373629C>TCA374868024CRB2c.3098C>T (p.Ala1033Val)
c.2102C>T (p.Ala701Val)
n.2212C>T
c.3071C>T (p.Ala1024Val)
c.2903C>T (p.Ala968Val)
 dbSNP gnomAD v3 gnomAD v4
9g.123373630G>ACA199639068CRB2c.3099G>A (p.Ala1033=)
c.2103G>A (p.Ala701=)
n.2213G>A
c.3072G>A (p.Ala1024=)
c.2904G>A (p.Ala968=)
 dbSNP gnomAD v4
9g.123373630G>CCA199639066CRB2c.3099G>C (p.Ala1033=)
c.2103G>C (p.Ala701=)
n.2213G>C
c.3072G>C (p.Ala1024=)
c.2904G>C (p.Ala968=)
 dbSNP gnomAD v4
9g.123373630G=CA1877939133CRB2c.3099G= (p.Ala1033=)
c.2103G= (p.Ala701=)
n.2213G=
c.3072G= (p.Ala1024=)
c.2904G= (p.Ala968=)
9g.123373630G>TCA467206480CRB2c.3099G>T (p.Ala1033=)
c.2103G>T (p.Ala701=)
n.2213G>T
c.3072G>T (p.Ala1024=)
c.2904G>T (p.Ala968=)
 gnomAD v4
9g.123373635_123373636insGGCCCGGCGGGGCCCCCA2691590088CRB2c.3104_3105insGGCCCGGCGGGGCCCC (p.Gly1036AlafsTer?)
c.2108_2109insGGCCCGGCGGGGCCCC (p.Gly704AlafsTer?)
n.2218_2219insGGCCCGGCGGGGCCCC
c.3077_3078insGGCCCGGCGGGGCCCC (p.Gly1027AlafsTer?)
c.2909_2910insGGCCCGGCGGGGCCCC (p.Gly971AlafsTer?)
 gnomAD v4
9g.123373631G>ACA374868027CRB2c.3100G>A (p.Ala1034Thr)
c.2104G>A (p.Ala702Thr)
n.2214G>A
c.3073G>A (p.Ala1025Thr)
c.2905G>A (p.Ala969Thr)
 gnomAD v4
9g.123373631G>CCA374868025CRB2c.3100G>C (p.Ala1034Pro)
c.2104G>C (p.Ala702Pro)
n.2214G>C
c.3073G>C (p.Ala1025Pro)
c.2905G>C (p.Ala969Pro)
 gnomAD v4
9g.123373631G>TCA374868026CRB2c.3100G>T (p.Ala1034Ser)
c.2104G>T (p.Ala702Ser)
n.2214G>T
c.3073G>T (p.Ala1025Ser)
c.2905G>T (p.Ala969Ser)
 gnomAD v4
9g.123373631_123373632delinsGCCA1877939141CRB2c.3100_3101delinsGC (p.Ala1034=)
c.2104_2105delinsGC (p.Ala702=)
n.2214_2215delinsGC
c.3073_3074delinsGC (p.Ala1025=)
c.2905_2906delinsGC (p.Ala969=)
9g.123373631_123373635dupCA2691590089CRB2c.3100_3104dup (p.Gly1036ProfsTer?)
c.2104_2108dup (p.Gly704ProfsTer?)
n.2214_2218dup
c.3073_3077dup (p.Gly1027ProfsTer?)
c.2905_2909dup (p.Gly971ProfsTer?)
 gnomAD v4
9g.123373632C>ACA374868028CRB2c.3101C>A (p.Ala1034Asp)
c.2105C>A (p.Ala702Asp)
n.2215C>A
c.3074C>A (p.Ala1025Asp)
c.2906C>A (p.Ala969Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373632C=CA1877939154CRB2c.3101C= (p.Ala1034=)
c.2105C= (p.Ala702=)
n.2215C=
c.3074C= (p.Ala1025=)
c.2906C= (p.Ala969=)
9g.123373632C>GCA374868029CRB2c.3101C>G (p.Ala1034Gly)
c.2105C>G (p.Ala702Gly)
n.2215C>G
c.3074C>G (p.Ala1025Gly)
c.2906C>G (p.Ala969Gly)
 gnomAD v4
9g.123373632C>TCA374868030CRB2c.3101C>T (p.Ala1034Val)
c.2105C>T (p.Ala702Val)
n.2215C>T
c.3074C>T (p.Ala1025Val)
c.2906C>T (p.Ala969Val)
 dbSNP gnomAD v4
9g.123373635delCA590936293CRB2c.3104del (p.Pro1035LeufsTer?)
c.2108del (p.Pro703LeufsTer?)
n.2218del
c.3077del (p.Pro1026LeufsTer?)
c.2909del (p.Pro970LeufsTer?)
 dbSNP gnomAD v2 gnomAD v4
9g.123373633C>ACA467206491CRB2c.3102C>A (p.Ala1034=)
c.2106C>A (p.Ala702=)
n.2216C>A
c.3075C>A (p.Ala1025=)
c.2907C>A (p.Ala969=)
 gnomAD v4
9g.123373633C>GCA467206492CRB2c.3102C>G (p.Ala1034=)
c.2106C>G (p.Ala702=)
n.2216C>G
c.3075C>G (p.Ala1025=)
c.2907C>G (p.Ala969=)
9g.123373633C>TCA467206493CRB2c.3102C>T (p.Ala1034=)
c.2106C>T (p.Ala702=)
n.2216C>T
c.3075C>T (p.Ala1025=)
c.2907C>T (p.Ala969=)
 gnomAD v4
9g.123373634C>ACA374868031CRB2c.3103C>A (p.Pro1035Thr)
c.2107C>A (p.Pro703Thr)
n.2217C>A
c.3076C>A (p.Pro1026Thr)
c.2908C>A (p.Pro970Thr)
 gnomAD v4
9g.123373634C>GCA374868032CRB2c.3103C>G (p.Pro1035Ala)
c.2107C>G (p.Pro703Ala)
n.2217C>G
c.3076C>G (p.Pro1026Ala)
c.2908C>G (p.Pro970Ala)
 gnomAD v4
9g.123373634C>TCA374868033CRB2c.3103C>T (p.Pro1035Ser)
c.2107C>T (p.Pro703Ser)
n.2217C>T
c.3076C>T (p.Pro1026Ser)
c.2908C>T (p.Pro970Ser)
 gnomAD v4
9g.123373635C>ACA374868034CRB2c.3104C>A (p.Pro1035His)
c.2108C>A (p.Pro703His)
n.2218C>A
c.3077C>A (p.Pro1026His)
c.2909C>A (p.Pro970His)
 gnomAD v4
9g.123373635C=CA1877939162CRB2c.3104C= (p.Pro1035=)
c.2108C= (p.Pro703=)
n.2218C=
c.3077C= (p.Pro1026=)
c.2909C= (p.Pro970=)
9g.123373635C>GCA374868035CRB2c.3104C>G (p.Pro1035Arg)
c.2108C>G (p.Pro703Arg)
n.2218C>G
c.3077C>G (p.Pro1026Arg)
c.2909C>G (p.Pro970Arg)
9g.123373635C>TCA374868036CRB2c.3104C>T (p.Pro1035Leu)
c.2108C>T (p.Pro703Leu)
n.2218C>T
c.3077C>T (p.Pro1026Leu)
c.2909C>T (p.Pro970Leu)
 dbSNP gnomAD v4
9g.123373635_123373636insCCGGCGCGGCCCCGGCCA2695211165CRB2c.3104_3105insCCGGCGCGGCCCCGGC (p.Gly1036ArgfsTer?)
c.2108_2109insCCGGCGCGGCCCCGGC (p.Gly704ArgfsTer?)
n.2218_2219insCCGGCGCGGCCCCGGC
c.3077_3078insCCGGCGCGGCCCCGGC (p.Gly1027ArgfsTer?)
c.2909_2910insCCGGCGCGGCCCCGGC (p.Gly971ArgfsTer?)
9g.123373636T>ACA467206498CRB2c.3105T>A (p.Pro1035=)
c.2109T>A (p.Pro703=)
n.2219T>A
c.3078T>A (p.Pro1026=)
c.2910T>A (p.Pro970=)
 gnomAD v4
9g.123373636T>CCA467206504CRB2c.3105T>C (p.Pro1035=)
c.2109T>C (p.Pro703=)
n.2219T>C
c.3078T>C (p.Pro1026=)
c.2910T>C (p.Pro970=)
 dbSNP gnomAD v2 gnomAD v4
9g.123373636T>GCA467206501CRB2c.3105T>G (p.Pro1035=)
c.2109T>G (p.Pro703=)
n.2219T>G
c.3078T>G (p.Pro1026=)
c.2910T>G (p.Pro970=)
 gnomAD v4
9g.123373636T=CA1877939170CRB2c.3105T= (p.Pro1035=)
c.2109T= (p.Pro703=)
n.2219T=
c.3078T= (p.Pro1026=)
c.2910T= (p.Pro970=)

Number of alleles fetched