TABLE 1.
SLC34A2 variants reported in pulmonary alveolar microlithiasis
| Location | cDNA | Consequence | Number of patients | Reference |
| Homozygous allele state | ||||
| Exon 1 | c.-6773_-6588del | NA | 6 | Corut et al. 2006 [19] |
| Exon 2–6 | ∼5.5 kb deletion | NA | 1 | Ishihara et al. 2009 [20] |
| Exon 3 | c.114delA | Frameshift | 2 | Corut et al. 2006 [19] |
| Exon 3 | c.212_224del | Frameshift | 1 | Vismara et al. 2015 [21] |
| Exon 3 | c.226C>T | Nonsense | 6 | Corut et al. 2006 [19] |
| Cakir et al. 2015 [22] | ||||
| Mehta et al. 2016 [23] | ||||
| Exon 4 | c.316G>C | Substitution | 2 | Corut et al. 2006 [19] |
| Ozbudak et al. 2012 [24] | ||||
| Exon 5 | c.380-345_ c.523+659del | NA | 2 | Dandan et al. 2018 [25] |
| Intron 5–Exon 6 | c.524-18_559del | NA | 1 | Simon et al. 2018 [26] |
| Exon 6 | c.560G>A | Substitution | 1 | Jönsson et al. 2020 [18] |
| Exon 6 | c.575C>A | Substitution | 3 | Ma et al. 2014 [27] |
| Exon 6 | c.593T>C | Substitution | 3 | Gaber et al. 2012 [28] |
| Exon 7 | c.646G>T | Nonsense | 1 | Jönsson et al. 2020 [18] |
| Exon 8 | c.857_871delins19 | Frameshift | 2 | Huqun et al. 2007 [16] |
| Exon 8 | c.893_897delTTGTC | Frameshift | 1 | Alastal 2017 [29] |
| Exon 8 | c.906G>A | Nonsense | 1 | Jönsson et al. 2020 [18] |
| Exon 8 | c.910A>T | Nonsense | 6 | Yin et al. 2013 [30] |
| Zhong et al. 2009 [31] | ||||
| Zhang et al. 2017 [32] | ||||
| Intron 9 | c.1048+1G>A# | NA | 4 | Huqun et al. 2007 [16] |
| Exon 10 | c.1136G>A | Substitution | 1 | Jönsson et al. 2020 [18] |
| Exon 11 | c.1238G>A | Nonsense | 1 | Jönsson et al. 2020 [18] |
| Exon 11 | c.1327delC | Nonsense | 2 | Jönsson et al. 2020 [18] |
| Exon 11 | c.1328delT | Frameshift | 1 | Corut et al. 2006 [19] |
| Intron 11 | c.1333+1G>A | NA | 1 | Jönsson et al. 2020 [18] |
| Exon 12 | c.1342delG | Nonsense | 1 | Corut et al. 2006 [19] |
| Exon 12 | c.1342_1361del | Frameshift | 1–2 | Ellison et al. 2009 [7] |
| Sigur et al. 2019 [33] | ||||
| Exon 12 | c.1390G>C | Substitution | 2 | Jönsson et al. 2020 [18] |
| Exon 12 | c.1402_1404delACC | In-frame deletion | 3 | Jönsson et al. 2012 [18] |
| Jönsson et al. 2020 [34] | ||||
| Exon 12 | c.1456C>T | Nonsense | 1 | Proesmans et al. 2012 [35] |
| Exon 1–13 | Whole gene deletion | NA | 1 | Stokman et al. 2016 [36] |
| Compound heterozygous allele state | ||||
| Exon 4 | c.316G>A | Substitution | 1 | Jönsson et al. 2020 [18] |
| Exon 11 | c.1238G>A | Nonsense | ||
| Exon 8 | c.910A>T | Nonsense | 1 | Wang et al. 2014 [37] |
| Exon 12 | c.1363T>C | Substitution | ||
| Intron 9 | c.1048+1G>A | NA | 1 | Izumi et al. 2017 [38] |
| Exon 12 | c.1390G>C | Substitution | ||
NA: not applicable. #: Originally reported as IVS8+1G>A. SLC34A2 DNA reference sequence: Ensembl Transcript ID ENST00000382051.7 (GRCh38.p12 assembly).