Supplemental Table
Table 1. Further confirmation of previous reported pathogenic variants
Family No. / Sex / Age / Mutated Gene / Sillence Classification / Nucleotide change / Predicted amino acid change / Mutation type / Mutation effect / Exon or intron / Reference39 / M / 4.6 / COL1A1 / IV / Deletion / Whole gene deletion
40 / M / 16 / COL1A1 / I / c.671G>A / p.G224D / Substitution / Missense / Exon 9 / China Jinan
41 / M / 11 / COL1A1$ / I / c.769G>A / p.G257R / Substitution / Missense / Exon 11 / Marini 2007 (1)
F / 4 / COL1A1$ / III / c.769G>A / p.G257R / Substitution / Missense / Exon 11 / Marini 2007 (1)
42 / M / 10 / COL1A1 / IV / c.769G>A / p.G257R / Substitution / Missense / Exon 11 / Marini 2007 (1)
43 / M / 12 / COL1A1 / III / c.769G>A / p.G257R / Substitution / Missense / Exon 11 / Marini 2007 (1)
44 / M / 11 / COL1A1 / III / c.823G>A / p.G275S / Substitution / Missense / Exon 12 / Marini 2007 (1)
45 / M / 10 / COL1A1 / IV / c.994G>A / p.G332R / Substitution / Missense / Exon 15 / Marini 2007 (1)
46 / F / 25 / COL1A1 / III / c.1155+1G>C / Substitution / Splice / Intron 17 / Marini 2007 (1)
47 / M / 12 / COL1A1 / III / c.1792C>T / p.R598* / Substitution / Nonsense / Exon 26 / Lindahl 2015(2)
48 / F / 6 / COL1A1 / IV / c.1821+1G>A / Substitution / Splice / Intron 26 / Marini 2007 (1)
49 / M / 6 / COL1A1 / IV / c.2037_2038delAG / p.G680Ffs*29 / Deletion / Frameshift / Exon 31 / Gentile 2013(3)
50 / M / 2 / COL1A1 / I / c.2299G>A / p.G767S / Substitution / Missense / Exon 33_34 / Marini 2007 (1)
51 / M / 6.6 / COL1A1 / III / c.2362G>A / p.G788S / Substitution / Missense / Exon 35 / Marini 2007 (1)
52 / F / 23 / COL1A1 / III / c.2461G>A / p.G821S / Substitution / Missense / Exon 37 / Marini 2007 (1)
53 / M / 14 / COL1A1 / III / c.2560G>A / p.G854S / Substitution / Missense / Exon 38 / Marini 2007 (1)
54 / M / 5 / COL1A1 / III / c.2569G>T / p.G857C / Substitution / Missense / Exon 38 / Marini 2007 (1)
55 / M / 7 / COL1A1 / I / c.3505G>A / p.G1169S / Substitution / Missense / Exon 48 / Lindahl 2015(2)
56 / M / 3.2 / COL1A1 / IV / c.3531+1G>A / Substitution / Splice / Intron 48 / Marini 2007 (1)
57 / F / 31 / COL1A1 / III / c.3531+5G>A / Substitution / Splice / Intron 48 / Marini 2007 (1)
58 / F / 5.3 / COL1A2 / IV / c.838G>A / p.G280S / Substitution / Missense / Exon 17 / Marini 2007 (1)
59 / M / 10 / COL1A2 / IV / c.838G>A / p.G280S / Substitution / Missense / Exon 17 / Marini 2007 (1)
60 / M / 13 / COL1A2 / III / c.982G>A / p.G328S / Substitution / Missense / Exon 19 / Marini 2007 (1)
61 / F / 12 / COL1A2 / I / c.982G>A / p.G328S / Substitution / Missense / Exon 19 / Marini 2007 (1)
62 / M / 1 / COL1A2 / III / c.1009G>A / p.G337S / Substitution / Missense / Exon 19 / Marini 2007 (1)
63 / F / 1.3 / COL1A2 / III / c.1072G>A / p.G358S / Substitution / Missense / Exon 20 / Marini 2007 (1)
64 / F / 40 / COL1A2 / I / c.1197+5G>A / Substitution / Splice / Intron 21 / Marini 2007 (1)
65 / M / 16 / COL1A2 / IV / c.2197G>T / p.G733C / Substitution / Missense / Exon 37 / Lindahl 2015(2)
66 / F / 14.8 / COL1A2 / IV / c.2242G>A / p.G748S / Substitution / Missense / Exon 37 / Stephen 2014(4)
67 / M / 22 / COL1A2 / IV / c.2296G>A / p.G766S / Substitution / Missense / Exon 38 / Marini 2007 (1)
68 / F / 3.8 / COL1A2 / IV / c.2387G>C / p.G796A / Substitution / Missense / Exon 39 / Marini 2007 (1)
69 / M / 11 / COL1A2 / III / c.2413G>C / p.G805R / Substitution / Missense / Exon 40 / Marini 2007 (1)
70 / M / 11 / COL1A2 / I / c.2485G>A / p.G829S / Substitution / Missense / Exon 40 / Marini 2007 (1)
71 / M / 4.8 / COL1A2 / III / c.2565+1G>A / Substitution / Splice / Intron 40 / Lindahl 2015 (2)
72 / F / 3 / COL1A2 / I / c.2565+1G>A / Substitution / Splice / Intron 40 / Lindahl 2015 (2)
73 / M / 12 / COL1A2 / III / c.2918G>A / p.G973D / Substitution / Missense / Exon 44 / Stephen 2014 (3)
74 / F / 16 / COL1A2 / I / c.3034G>A / p.G1012S / Substitution / Missense / Exon 46 / Marini 2007 (1)
75 / F / 18 / COL1A2 / III / c.3034G>A / p.G1012S / Substitution / Missense / Exon 46 / Marini 2007 (1)
76 / M / 13 / COL1A2 / III / c.3305G>C / p.G1102A / Substitution / Missense / Exon 49 / Xu 2011(5)
77 / F / 3 / IFITM5 / III / c.-14C>T / Substitution / New upstream start codon / 5’UTR / Selmer 2012(6)
78 / F / 3.4 / IFITM5 / III / c.-14C>T / Substitution / New upstream start codon / 5’UTR
79 / F / 1.8 / IFITM5 / III / c.-14C>T / Substitution / New upstream start codon / 5’UTR
80 / M / 14 / IFITM5 / III / c.-14C>T / Substitution / New upstream start codon / 5’UTR
81 / F / 1.8 / IFITM5 / IV / c.-14C>T / Substitution / New upstream start codon / 5’UTR
82 / F / 29 / IFITM5 / IV / c.-14C>T / Substitution / New upstream start codon / 5’UTR
83 / M / 16 / IFITM5 / I / c.-14C>T / Substitution / New upstream start codon / 5’UTR
84 / M / 4.8 / IFITM5 / I / c.-14C>T / Substitution / New upstream start codon / 5’UTR
85 / F / 12 / IFITM5 / III / c.119C>T / p.S40L / Substitution / Missense / Exon 1 / Hoyer 2014(7)
86 / F / 5 / FKBP10# / IV / c.831dupC / p.G278Rfs*95 / Duplication / Frameshift / Exon 5 / Kelley 2011(8)
87 / SERPINF1# / IV / c.271_279dupGCCC / p.A91_S93dup / Duplication / In-frame insertion / Exon 3 / Rauch 2012(9)
88 / F / 9 / WNT1# / III / c.506dupG / p.C170Lfs*6 / Duplication / Frameshift / Exon 3 / Pyott 2013(10)
$: patients were from the same family; #: homozygous mutation in autosomal recessive pattern; DI: Dentinogenesisimperfecta
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