Table 1. Classification of adRP and adCSNB mutations.

Classification of rhodopsin mutations described in HGMD (http://www.hgmd.cf.ac.uk/) based on their experimentally studied biochemical and cellular characteristics. Italicised substitutions are observed in the gnomAD dataset at a frequency of ~ 1:80,000 or more and might be non-pathogenic substitutions. § might behave as class 4 after 11-cis-retinal rescue. † might behave as class 2 on overexpression, but class 4 in vivo.

Classification	Key features	Mutations
1	Post Golgi trafficking and OS targeting	L328P, T342M, Q344R/P/ter, V345L/M, A346P, P347A/R/Q/L/S/T, ter349/Q/E
2	Misfolding, ER retention and instability	N15S§, T17M†, V20G§, P23A/H/L§, Q28H§, G51R/V, P53R, T58R/M, V87D, G89D, G106R/W, C110F/R/S/Y, E113K, L125R, W161R, A164E/V, C167R/W, P171Q/L/S, Y178N/D/C, E181K, G182S/V, C185R, C187G/Y, G188R/E, D190N/G/Y, H211R/P, C222R, P267R/L, S270R, K296N/E/M
3	Disrupted vesicular traffic and endocytosis	R135G/L/P/W
4	Altered post-translational modifications and reduced stability	T4K†, T17M†, M39R, N55K, G90V
5	Altered transducin activation	M44T, V137M
6	Constitutive activation	G90D, T94I, A292E, A295V
7	Dimerization deficiency	F45L, V209M, F220C
Unclassified	No observed biochemical or cellular defect or not studied in detail	P12R, R21C, Q28H, L40R, L46R, L47R, F52Y, F56Y, L57R, Y60ter, Q64ter, R69H, N78I, L79P, V87L, L88P, T92I, T97I, V104F, G109R, G114D/V, E122G, W126L/ter, S127F, L131P, Y136ter, C140S, T160T, M163T, A169P, P170H/R, S176F, P180A/S, Q184P, S186P/W, Y191C, T193M, M207R/K, V210F, I214N, P215L/T, M216R/L/K, R252P, T289P, S297R, A298D, K311E, N315ter, E341K, S343C