NM_004004.5:c.109G>A | Algeria; Egypt | NC_000013.11:g.20189473C>T | Benign, Likely Benign, Likely Pathogenic, Pathogenic | Likely Pathogenic, Pathogenic | Deafness, Autosomal Recessive 1A | NG_008358.1:g.8503G>A; NM_004004.5:c.109G>A; NP_003995.2:p.Val37Ile | 72474224 | 17023 |
NM_004004.5:c.139G>T | Algeria; Tunisia | NC_000013.11:g.20189443C>A | Pathogenic | Pathogenic | Deafness, Autosomal Recessive 1A | NG_008358.1:g.8533G>T; NM_004004.5:c.139G>T; NP_003995.2:p.Glu47Ter | 104894398 | 17005 |
NM_004004.5:c.167del | Algeria; Palestine | NC_000013.11:g.20189415del | Pathogenic | Likely Pathogenic | Deafness, Autosomal Recessive 1A | NG_008358.1:g.8561del; NM_004004.5:c.167del; NP_003995.2:p.Leu56ArgfsTer26 | 80338942 | 17010 |
NM_004004.5:c.-22-12C>T | United Arab Emirates | NC_000013.11:g.20189615G>A | Benign | Benign | | NG_008358.1:g.8361C>T; NM_004004.5:c.-22-12C>T; NP_003995.2:p.? | 9578260 | 44717 |
NM_004004.5:c.229T>C | Palestine | NC_000013.11:g.20189353A>G | Pathogenic | Pathogenic | Deafness, Autosomal Recessive 1A | NG_008358.1:g.8623T>C; NM_004004.5:c.229T>C; NP_003995.2:p.Trp77Arg | 104894397 | 17003 |
NM_004004.5:c.-23+1G>A | Algeria; Egypt; Palest... | NC_000013.11:g.20192782C>T | Likely Pathogenic, Pathogenic | Likely Pathogenic, Pathogenic | Deafness, Autosomal Recessive 1A | NG_008358.1:g.5194G>A; NM_004004.5:c.-23+1G>A | 80338940 | 17029 |
NM_004004.5:c.235del | Palestine | NC_000013.11:g.20189349del | Pathogenic | Pathogenic | Deafness, Autosomal Recessive 1A | NG_008358.1:g.8629del; NM_004004.5:c.235del; NP_003995.2:p.Leu79fs | 80338943 | 17014 |
NM_004004.5:c.23C>T | Egypt | NC_000013.11:g.20189559G>A | | Uncertain Significance | Deafness, Autosomal Recessive 1A | NG_008358.1:g.8417C>T; NM_004004.5:c.23C>T; NP_003995.2:p.Thr8Met | 529500747 | 379889 |
NM_004004.5:c.35del | Algeria; Egypt; Jordan... | NC_000013.11:g.20189552del | Pathogenic | Likely Pathogenic, Pathogenic | Deafness, Autosomal Recessive 1A | NG_008358.1:g.8429del; NM_004004.5:c.35del; NP_003995.2:p.Gly12ValfsTer2 | 80338939 | 17004 |
NM_004004.5:c.438C>T | United Arab Emirates | NC_000013.11:g.20189144G>A | | Uncertain Significance | Deafness, Autosomal Recessive 1A | NG_008358.1:g.8832C>T; NM_004004.5:c.438C>T; NP_003995.2:p.Phe146= | 750795475 | 1083190 |
NM_004004.5:c.457G>A | Egypt | NC_000013.11:g.20189125C>T | Benign, Likely Benign, Likely Pathogenic | Uncertain Significance | Deafness, Autosomal Recessive 1A | NG_008358.1:g.8851G>A; NM_004004.5:c.457G>A; NP_003995.2:p.Val153Ile | 111033186 | 44754 |
NM_004004.5:c.506G>A | United Arab Emirates | NC_000013.11:g.20189076C>T | Pathogenic | Pathogenic | Deafness, Autosomal Recessive 1A | NG_008358.1:g.8900G>A; NM_004004.5:c.506G>A; NP_003995.2:p.Cys169Tyr | 774518779 | 265481 |
NM_004004.5:c.617A>G | Algeria | NC_000013.11:g.20188965T>C | Likely Pathogenic, Pathogenic | Pathogenic | Deafness, Autosomal Recessive 1A | NG_008358.1:g.9011A>G; NM_004004.5:c.617A>G; NP_003995.2:p.Asn206Ser | 111033294 | 44763 |
NM_004004.5:c.95G>A | Lebanon | chr13:20189487 | Pathogenic | Pathogenic | Deafness, Autosomal Recessive 1A | NG_008358.1:g.8489G>A; NM_004004.5:c.95G>A; NP_003995.2:p.Arg32His | 111033190 | 44766 |
NM_004004.6:c.-1G>A | United Arab Emirates | NC_000013.11:g.20189582C>T | Uncertain Significance | Likely Pathogenic | Deafness, Autosomal Recessive 1A | NG_008358.1:g.8394G>A; NM_004004.6:c.-1G>A; NP_003995.2:p.? | 768338285 | 883513 |
NM_004004.6:c.290dup | Lebanon | NC_000013.11:g.20189292dup | Pathogenic | Likely Pathogenic | Deafness, Autosomal Recessive 1A | NG_008358.1:g.8684dup; NM_004004.6:c.290dup; NP_003995.2:p.Tyr97Ter | 786204491 | 188821 |
NM_004004.6:c.334_335del | Egypt | NC_000013.11:g.20189248_20189249del | Likely Pathogenic, Pathogenic | Likely Pathogenic | Deafness, Autosomal Recessive 1A | NG_008358.1:g.8728_8729del; NM_004004.6:c.334_335del; NP_003995.2:p.Lys112fs | 756484720 | 189051 |