Publications | Number of individuals | Number of families | Origin | Transcript | gDNA position [hg38] | cDNA position | Predicted Protein change | Exon | Type | gnomAD frequency (All) |
---|---|---|---|---|---|---|---|---|---|---|
Present paper | 7 | 2 | Pakistan | NM_024298.3 | g.54180849_54180869del21 | c.758_778del | p.Glu253_Ala259del | 6 | Inframe deletion | 0.00002333 |
Johansen et al (2016) | 5 | 2 | Pakistan | NM_024298.3 | g.54180849_54180869del21 | c.758_778del | p.Glu253_Ala259del | 6 | Inframe deletion | 0.00002333 |
Johansen et al (2016) [7] | 4 | 1 | Pakistan | NM_024298.3 | g.54180801_54180807delGGCCGCC | c.820_826del | p.Gly274Profs*47 | 6 | Frameshift | ā |
Johansen et al (2016) [7] | 3 | 1 | Egypt | NM_024298.3 | g.54188278_54188297del20 | c.126_145del | p.Leu43Hisfs*69 | 3 | Frameshift | ā |
Johansen et al (2016) [7] | 2 | 1 | Jordan | NM_024298.3 | g.54183591delC | c.423delG | p.Leu142Cysfs*8 | 5 | Frameshift | ā |
Johansen et al (2016) [7] | 2 | 1 | Iraq | NM_024298.3 | g.54180772Cā>āG | c.854ā+ā1Gā>āC | p.? | Intron | Splice | ā |
Hu et al (2018) [9] | 3 | 1 | Iran | NM_024298.3 | g.54174394Cā>āT | c.1069Gā>āA | p.Gly357Ser | 8 | Missense | 0.00001702 |
Santos-Cortez et al (2018) [8] | 4 | 1 | Pakistan | NM_024298.3 | g.54187242delA | c.251delT | p.Leu84Argfs*25 | Ā | Frameshift | ā |
Yalnizoglu et al (2019) [6] | 3 | 1 | Turkey | NM_024298.3 | g.54174186Gā>āA | c.1278Gā>āA | p.Trp426* | 8 | Nonsense | ā |
Yalnizoglu et al (2019) [6] | 4 | 2 | Turkey | NM_024298.3 | g.54162440_54174072del | c.? | p.? | 8 | Deletion | ā |
Yalnizoglu et al (2019) [6] | 2 | 1 | Turkey | NM_024298.3 | g.54187234Cā>āT | c.259Cā>āT | p.Arg87Gln | 4 | Missense | 0.00001108 |
Yalnizoglu et al (2019) [6] | 2 | 2 | Turkey | NM_024298.3 | g.54180936_54180946del | c.680_690del | p.Leu227Profs*65 | 6 | Frameshift | 0.000004919 |
Yalnizoglu et al (2019) [6] | 1 | 1 | Turkey | NM_024298.3 | g.54174337Cā>āT | c.1126Gā>āA | p.Glu376Lys | 8 | Missense | 0.00003211 |
Jacher et al. (2019) [10] | 1 | 1 | Lebanon | NM_024298.3 | g.54178943āTā>āC | c.855-2Aā>āG | p.? | Intron | Splice | ā |