Nt change | Aa change | Exon position | Variation type | Zygosity | Domain | Severity | Country | Ref |
---|---|---|---|---|---|---|---|---|
c.16A>G | p.R6G | 4 | Missense | Homo/Hetero | N-terminal | ND | China | [33] |
c.329C>T | p.A110V | 4 | Missense | Homo | DBD | S to P | Pakistan | [25] |
c.499G>A | p.G167R | 5 | Missense | Homo | DBD | S to P | Iran | This study |
c.733G>C | p.D245H | 7 | Missense | Homo | LBD | M to S | Pakistan | [31] |
c.872G>T | p.R291L | 8 | Missense | Homo | LBD | P | The Cz.Rep | [32] |
c.913T>C | p.Y305H | 8 | Missense | Homo | LBD | P | Tunisia | [28] |
c.959T>C | p.L320P | 8 | Missense | Homo | LBD | S to P | Pakistan | [25] |
c.1018_1020delGAG | p.E340del | 8 | Frame-shift | Homo | LBD | S to P | Pakistan | [30] |
c.1018_1024dupGAGTTTG | p.V342GfsX44 | 8 | Frame-shift | Homo | LBD | S to P | Turkey | [25] |
c.1024G>T | p.V342L | 8 | Missense | Homo | LBD | S to P | Pakistan | [25] |
c.1040T>C | p.L347P | 8 | Missense | Homo | LBD | S to P | Pakistan | [25] |
c.1144C>T | p.R382C | 9 | Missense | ND | LBD | ND | China | [34] |
c.1166C>T | p.T389M | 9 | Missense | Hetero | LBD | ND | Turkey | [25] |
c.1058-3C>A | p.D353GfsX6 | Donor site of exon 9 | Splice site | ND | LBD | ND | The UAE | [35] |