Table 1 of
Iwanami, Mol Vis 2019; 25:766-779. Table 1 of
Iwanami, Mol Vis 2019; 25:766-779.
Table 1. Nucleotide deletion and insertion variants and nonsense variants.
| ID | Variant | No. of subjects | MAF | MAF (Database) | Reference | ACMG evidence | ACMG class | ||
|---|---|---|---|---|---|---|---|---|---|
| RP | KRP | CT | RP+KRP | ||||||
| Ex4–3 | c.525_527delGGA | 2 | 3 | 0 | 0.0053 | 0.0008 (HGVD) | 9 | PS4, PM4 | LP |
| p.(Glu176del) | 0.000115 (ExAC) | ||||||||
| 0.00096 (gnomAD) | |||||||||
| Ex6–1 | c.942delT | 1 | 0 | 0 | 0.0015 | - | - | PVS1, PM2 | LP |
| p.(Ala315Leufs*24) | |||||||||
| Ex8–1 | c.1211dupA | 3 | 0 | 0 | 0.0032 | 0.000008 (ExAC) | 6, 8, 24 | PVS1, PS4 | P |
| p.(Asn404Lysfs*3) | 0.000016 (gnomAD) | ||||||||
| Ex10–1 | c.1485_1493delinsCGAAAAG | 1 | 0 | 0 | 0.0015 | - | 8 | PVS1, PM2 | LP |
| p.(Val496Glufs*13) | |||||||||
| Ex11–2 | c.1750G>T | 0 | 2 | 0 | 0.0021 | - | 10, 32 | PVS1, PM2 | LP |
| p.(Glu584*) | |||||||||
| Ex26–8 | c.4387delA | 0 | 1 | 0 | 0.0011 | - | 10 | PVS1, PM2 | LP |
| p.(Arg1463Glyfs*15) | |||||||||
| Ex26–9 | c.4395_4402dupTCAAGAGG | 0 | 1 | 0 | 0.0011 | - | 10 | PVS1, PM2 | LP |
| p.(Asp1468Valfs*13) | |||||||||
| Ex26–16 | c.4957dupA | 45 | 30 | 0 | 0.097 | 0.000007 (gnomAD) | 8–11, 29, 31, 32 | PVS1, PS4, PM3, PP1 | P |
| (JV1) | p.(Ser1653Lysfs*2) | 0.0021 (HGVD) | |||||||
| Ex26–17 | c.5014C>T | 0 | 1 | 0 | 0.0011 | - | 10 | PVS1, PM2 | LP |
| p.(Gln1672*) | |||||||||
| Ex26–18 | c.5202_5203delGT | 0 | 1 | 0 | 0.0011 | - | 10, 11 | PVS1, PM2, | P |
| p.(Phe1735Glnfs*6) | PP1 | ||||||||
| Ex35–3 | c.7028_7029delinsATCGT | 1 | 0 | 0 | 0.0016 | - | 8 | PM2, PM4 | VUS |
| p.(Leu2343delinsHisArg) | |||||||||
| Ex37–1 | c.7283C>A | 1 | 0 | 0 | 0.0011 | - | 8 | PVS1, PM2 | LP |
| p.(Ser2428*) | |||||||||
| Ex39–2 | c.7616delG | 1 | 0 | 0 | 0.0011 | - | - | PVS1, PM2 | LP |
| p.(Gly2539Glufs*14) | |||||||||
| Ex39–3 | c.7665_7666delCA | 1 | 0 | 1 | 0.0011 | - | 8 | PVS1, PM2 | LP |
| p.(Tyr2555*) | |||||||||
| Ex41–1 | c.7919G>A | 1 | 3 | 0 | 0.0064 | 0.000026 (gnomAD) | 7, 10, | PVS1, PS4, | P |
| p.(Trp2640*) | 13, 25, | PP1 | |||||||
| 26 | |||||||||
| Ex41–2 | c.8012T>A | 0 | 1 | 0 | 0.0011 | 0.000013 (gnomAD) | 10, 27 | PVS1, PM2, | P |
| p.(Leu2671*) | PP1 | ||||||||
| Ex44–1 | c.8331delC | 0 | 1 | 0 | 0.0011 | - | - | PVS1, PM2 | LP |
| p.(Val2778Phefs*14) | |||||||||
| Ex44–2 | c.8439_8442dupTGCA | 0 | 1 | 0 | 0.0011 | - | 10,11 | PVS1, PM2 | LP |
| p.(Glu2815Cysfs*19) | |||||||||
| Ex44–5 | c.8868C>A | 21 | 21 | 0 | 0.048 | 0.000037 (gnomAD) | 8–11, 29 | PVS1, PS4, | P |
| (JV2) | p.(Tyr2956*) | 0.0029 (HGVD) | PP1 | ||||||