Supplemental Table 1. Pathogenic Or Likely Pathogenic Variants in Individuals with Dominant OI
Supplemental Table 1. Pathogenic or likely pathogenic variants in individuals with dominant OI
Gene / cDNA Change / Amino Acid Change / N* / Dx / Impact / Novel# / PolyPhen2 / SIFT / PhyloP / CommentCOL1A1 / c.(?_-126)_(*1406_?)del / Deletion of COL1A1 / 8 / I / Deletion / no / Reported in (1)
COL1A1 / c.1A>G / p.Met1Val / 4 / I / HI / no
COL1A1 / c.2T>C / p.Met1Thr / 4 / I / HI / no / Reported in (2)
COL1A1 / c.37_38insC / p.Leu13Serfs*37 / 2 / I / HI / yes / Reported in (2)
COL1A1 / c.38T>G / p.Leu13* / 1 / I / HI / no
COL1A1 / c.266delinsCGCCGTCCCGGGGA / p.Gly89Alafs*84 / 1 / I / HI / no / Reported in (2)
COL1A1 / c.334-9A>G / 5 / I (4), IV (1) / Splice / no / 0.90 / Seen in 3 unrelated families; Reduced type I procollagen in 2 individuals (3); HSF: Most probably affecting splicing
COL1A1 / c.358C>T / p.Arg120* / 2 / I / HI / yes
COL1A1 / c.432del / p.Gly145Aspfs*120 / 1 / I / HI / no / Reported in (2)
COL1A1 / c.441del / p.Gly148Aspfs*117 / 3 / I / HI / no / Reported in (2)
COL1A1 / c.442G>T / p.Gly148* / 1 / I / HI / yes / Reported in (2)
COL1A1 / c.442_443insC / Gly148Alafs*21 / 2 / I / HI / no / Reported in (2)
COL1A1 / c.471+1G>A / 1 / I / Splice / no / 5.09
COL1A1 / c.471+1G>C / 1 / I / Splice / yes / 5.09
COL1A1 / c.608G>T / p.Gly203Val / 1 / IV / Gly / no / 0.999 / 0 / 5.36
COL1A1 / c.634G>A / p.Gly212Arg / 1 / IV / Gly / no / 1 / 0 / 5.36
COL1A1 / c.642+1G>A / 1 / III / Splice / no / 5.36
COL1A1 / c.643G>C / p.Gly215Arg / 1 / I / Gly / no / 1 / 0 / 5.08
COL1A1 / c.649_658del / p.Met217Glufs*45 / 4 / I / HI / no / Reported in (2)
COL1A1 / c.653G>A / p.Gly218Asp / 1 / IV / Gly / no / 0.999 / 0 / 5.08
COL1A1 / c.658C>T / p.Arg220* / 4 / I / HI / no / Reported in (2)
COL1A1 / c.661G>A / p.Gly221Ser / 1 / I / Gly / no / 0.999 / 0 / 5.08
COL1A1 / c.697-1G>T / 1 / I / Splice / no / 5.14
COL1A1 / c.697-2A>T / 1 / I / Splice / no / 2.64
COL1A1 / c.697-2A>G / 2 / I (1), IV (1) / Splice / no / 2.64
COL1A1 / c.699dup / p.Glu234Glyfs*10 / 2 / I / HI / no / Reported in (2)
COL1A1 / c.716G>A / p.Gly239Asp / 2 / IV / Gly / no / 0.999 / 0 / 5.14
COL1A1 / c.743G>A / p.Gly248Glu / 1 / III / Gly / no / 0.999 / 0 / 5.14
COL1A1 / c.750+1G>A / 2 / IV / Splice / no / 5.14
COL1A1 / c.757C>T / p.Arg253* / 2 / I / HI / no / Reported in (2)
COL1A1 / c.769G>A / p.Gly257Arg / 8 / I (7), IV (1) / Gly / no / 1 / 0 / 5.14
COL1A1 / c.779G>A / p.Gly260Asp / 4 / IV / Gly / yes / 0.999 / 0 / 5.14
COL1A1 / c.788G>A / p.Gly263Glu / 1 / IV / Gly / no / 0.999 / 0 / 5.14
COL1A1 / c.804+3_804+6del / 1 / III / Splice / no / 3.93 / reported from 2 centers; HSF: Most probably affecting splicing
COL1A1 / c.823G>A / p.Gly275Ser / 1 / I / Gly / no / 0.999 / 0 / 5.14
COL1A1 / c.904-9G>A / 2 / I / Splice / yes / -0.18 / HSF: Most probably affecting splicing; Activation of an intronic cryptic acceptor site, leading to a +7nt addition and frameshift. Seen in two individuals from the same family
COL1A1 / c.913G>A / p.Gly305Ser / 2 / IV / Gly / no / 0.999 / 0 / 5.62 / Reported in (4)
COL1A1 / c.931G>C / p.Gly311Arg / 1 / IV / Gly / no / 1 / 0 / 5.62 / Reported in (4)
COL1A1 / c.959G>A / p.Gly320Asp / 2 / I / Gly / yes / 0.999 / 0 / 5.55
COL1A1 / c.977G>A / p.Gly326Asp / 1 / IV / Gly / no / 0.999 / 0 / 5.55
COL1A1 / c.982_983dup / p.Gly329Leufs*213 / 1 / I / HI / no
COL1A1 / c.983_984dup / p.Gly329Leufs*213 / 3 / I / HI / no / Reported in (2)
COL1A1 / c.986_991del / p.Gly329_Ala330del / 1 / III / In-frame Deletion / no
COL1A1 / c.994_1001del / p.Gly332Trpfs*18 / 1 / I / HI / yes / Reported in (2)
COL1A1 / c.994G>A / p.Gly332Arg / 4 / IV / Gly / no / 1 / 0 / 5.55
COL1A1 / c.994G>C / p.Gly332Arg / 1 / IV / Gly / no / 1 / 0 / 5.55
COL1A1 / c.1002+5del / 1 / III / Splice / yes / 5.55 / HSF: Most probably affecting splicing; parents not evaluated
COL1A1 / c.1003-44_1003-33del / 3 / I / Splice / no / 5.78 / Reported in (4); HSF: Alteration of WT branch point, potential alteration of splicing; present in affected mother and two affected children
COL1A1 / c.1031G>T / p.Gly344Val / 1 / III / Gly / yes / 0.996 / 0 / 5.78
COL1A1 / c.1056+1G>A / 1 / I / Splice / no / 5.32
COL1A1 / c.1081C>T / p.Arg361* / 7 / I / HI / no / Reported in (2)
COL1A1 / c.1099C>T / p.Gln367* / 2 / I / HI / no / Reported in (2)
COL1A1 / c.1121G>C / p.Gly374Ala / 1 / IV / Gly / no / 0.945 / 0 / 4.15
COL1A1 / c.1127del / p.Pro376Leufs*165 / 3 / I / HI / no / Reported in (2)
COL1A1 / c.1127dup / p.Gly377Trpfs*15 / 3 / I / HI / no
COL1A1 / c.1128del / p.Gly377Alafs*164 / 3 / I / HI / no / Reported in (2)
COL1A1 / c.1128_1129insC / Gly377Argfs*15 / 1 / I / HI / yes / Reported in (2)
COL1A1 / c.1129G>A / p.Gly377Ser / 1 / IV / Gly / no / 0.999 / 0 / 5.70
COL1A1 / c.1155+1G>C / 1 / IV / Splice / no / 5.86
COL1A1 / c.1155+3_1155+6del / 1 / IV / Splice / no / 3.30 / HSF: Most probably affecting splicing; parents not evaluated
COL1A1 / c.1156-1G>A / 1 / I / Splice / no / 5.86
COL1A1 / c.1200+1G>C / 1 / I / Splice / no / 5.86
COL1A1 / c.1201_1202del / p.Gly401Cysfs*31 / 2 / I / HI / no
COL1A1 / c.1219G>A / p.Gly407Ser / 1 / III / Gly / no / 0.999 / 0 / 5.86 / Reported in (4)
COL1A1 / c.1222G>A / p.Gly410Ser / 1 / IV / Gly / yes / 0.999 / 0 / 4.07
COL1A1 / c.1238G>C / p.Gly413Ala / 1 / IV / Gly / no / 0.998 / 0 / 5.87
COL1A1 / c.1243C>T / p.Arg415* / 1 / I / HI / no
COL1A1 / c.1251del / p.Ser418fs*123 / 1 / I / HI / yes
COL1A1 / c.1299+1G>C / 1 / IV / Splice / no / 6.04
COL1A1 / c.1353+2T>C / 1 / I / Splice / no / 4.68
COL1A1 / c.1354-12G>A / 2 / I / Splice / no / -0.06 / Reduced type I procollagen (3); HSF: Most probably affecting splicing
COL1A1 / c.1405C>T / p.Arg469* / 4 / I / HI / no
COL1A1 / c.1414C>T / p.Arg472* / 5 / I / HI / no / Reported in (2)
COL1A1 / c.1588G>A / p.Gly530Ser / 1 / III / Gly / no / 1 / 0 / 5.53
COL1A1 / c.1608del / p.Ala537Profs*4 / 3 / I / HI / yes / Reported in (2)
COL1A1 / c.1614+1G>A / 1 / I / Splice / no / 5.53
COL1A1 / c.1614+2_1614+3delinsC / 1 / IV / Splice / no / 4.60
COL1A1 / c.1615-1G>C / 1 / I / Splice / no / 3.65
COL1A1 / c.1678G>A / p.Gly560Ser / 4 / I (1), IV (3) / Gly / no / 1 / 0 / 5.33
COL1A1 / c.1678G>T / p.Gly560Cys / 1 / IV / Gly / no / 1 / 0 / 5.33
COL1A1 / c.1760G>C / p.Gly587Ala / 1 / IV / Gly / no / 0.996 / 0 / 5.12
COL1A1 / c.1767_1767+1insCACAGGTCAAGCT / 1 / I / HI / yes / Reported in (2)
COL1A1 / c.1768-1G>A / 1 / I / Splice / no / 5.01
COL1A1 / c.1777G>A / p.Gly593Ser / 2 / III / Gly / no / 1 / 0 / 5.01
COL1A1 / c.1787del / p.Gly596Glufs*170 / 1 / I / HI / yes / Reported in (2)
COL1A1 / c.1792C>T / p.Arg598* / 1 / I / HI / no / ExAc: 0.000008 (1 of 118120)
COL1A1 / c.1821+1G>A / 1 / I / Splice / no / 5.15
COL1A1 / c.1822-2A>G / 1 / IV / Splice / no / 4.43
COL1A1 / c.1865del / p.Pro622Leufs*144 / 1 / I / HI / no
COL1A1 / c.1875+1G>A / 2 / I / Splice / no / 5.51
COL1A1 / c.1876G>A / p.Gly626Ser / 1 / III / Gly / no / 0.999 / 0 / 5.51
COL1A1 / c.1981C>T / p.Gln661* / 1 / I / HI / no / Reported in (2)
COL1A1 / c.1983+2T>G / 1 / I / Splice / no / 4.43
COL1A1 / c.1984-2A>C / 2 / I / Splice / no / 4.77
COL1A1 / c.2010del / p.Gly671Alafs*95 / 2 / I / HI / no / Reported in (4)
COL1A1 / c.2072del / p.Pro691Leufs*75 / 1 / I / HI / no / Reported in (4)
COL1A1 / c.2084del / p.Gly695Valfs*71 / 4 / I / HI / no / Reported in (2)
COL1A1 / c.2085_2086del / p.Ala699Glnfs*10 / 1 / I / HI / no
COL1A1 / c.2089C>T / p.Arg697* / 2 / I / HI / no / Reported in (2)
COL1A1 / c.2096del / p.Asn700Thrfs*66 / 3 / I / HI / no / Reported in (2)
COL1A1 / c.2101G>A / p.Gly701Ser / 2 / III / Gly / no / 1 / 0 / 5.71
COL1A1 / c.2110G>A / p.Gly704Ser / 1 / III / Gly / no / 1 / 0 / 5.71 / Reported in (4)
COL1A1 / c.2127G>A / p.Lys709Lys / 4 / I / Splice / yes / 5.71 / HSF: Most probably affecting splicing, present in 4 affected members of two generations in one family
COL1A1 / c.2155G>A / p.Gly719Ser / 4 / III (3), IV (1) / Gly / no / 1 / 0 / 5.71
COL1A1 / c.2235+1G>A / 1 / III / Splice / no / 5.88
COL1A1 / c.2235+5G>C / 1 / IV / Splice / yes / 5.71 / HSF: Most probably affecting splicing; parents not evaluated
COL1A1 / c.2236-1G>A / 3 / I / Splice / yes / 5.68
COL1A1 / c.2245G>A / p.Gly749Ser / 2 / I / Gly / no / 1 / 0 / 5.52
COL1A1 / c.2263G>A / p.Gly755Ser / 1 / IV / Gly / no / 1 / 0 / 5.68
COL1A1 / c.2299G>A / p.Gly761Ser / 12 / III (9), IV (3) / Gly / no / 1 / 0 / 5.37
COL1A1 / c.2362G>A / p.Gly788Ser / 2 / I (1), IV (1) / Gly / no / 0.971 / 0 / 3.80
COL1A1 / c.2397dup / p.Gly800Argfs*5 / 1 / I / HI / no / Reported in (2)
COL1A1 / c.2450dup / p.Gly818Trpfs*3 / 2 / I / HI / yes / Reported in (2)
COL1A1 / c.2461G>A / p.Gly821Ser / 5 / IV / Gly / no / 1 / 0 / 5.53
COL1A1 / c.2523del / p.Gly842Alafs*266 / 1 / I / HI / no / Reported in (4)
COL1A1 / c.2533G>A / p.Gly845Arg / 1 / III / Gly / no / 1 / 0 / 5.69
COL1A1 / c.2559+5G>A / 1 / I / Splice / no / 5.45 / HSF: Most probably affecting splicing; de novo mutation
COL1A1 / c.2560-1G>A / 2 / I / Splice / no / 5.77
COL1A1 / c.2560G>T / p.Gly854Cys / 2 / IV / Gly / yes / 1 / 0 / 5.77
COL1A1 / c.2569G>T / p.Gly857Cys / 1 / IV / Gly / no / 1 / 0 / 5.77
COL1A1 / c.2596G>A / p.Gly866Ser / 5 / III (4), IV (1) / Gly / no / 1 / 0 / 5.77
COL1A1 / c.2596G>T / p.Gly866Cys / 1 / III / Gly / no / 1 / 0 / 5.77 / Reported in (4)
COL1A1 / c.2612del / p.Pro871Leufs*237 / 1 / I / HI / no
COL1A1 / c.2614-1G>A / 2 / I / Splice / no / 3.08
COL1A1 / c.2615G>C / p.Gly872Ala / 1 / IV / Gly / no / 0.945 / 0 / 5.77
COL1A1 / c.2644C>T / p.Arg882* / 1 / I / HI / no / Reported in (2)
COL1A1 / c.2645_2663dup / p.Gly890Argfs*29 / 1 / I / HI / no
COL1A1 / c.2667+5G>A / 1 / I / Splice / yes / 5.61 / HSF: Most probably affecting splicing; parents not evaluated
COL1A1 / c.2684del / p.Pro895Leufs*213 / 1 / I / HI / no / Reported in (4)
COL1A1 / c.2684dup / p.Gly896Trpfs*17 / 2 / I / HI / yes / Reported in (2)
COL1A1 / c.2732del / p.Gly911Valfs*197 / 3 / I / HI / yes / Reported in (2)
COL1A1 / c.2770del / p.Pro925Leufs*183 / 1 / I / HI / no / Reported in (2)
COL1A1 / c.2784del / p.Gly929Alafs*179 / 2 / I / HI / no / Reported in (4)
COL1A1 / c.2829+5G>A / 5 / I / Splice / no / 4.96 / HSF: Most probably affecting splicing; present in 5 affected members of three generations in one family
COL1A1 / c.3026del / p.Pro1009Leufs*99 / 1 / I / HI / no / Reported in (2)
COL1A1 / c.3045+1G>T / 1 / I / Splice / no / 5.04 / Listed in (3)
COL1A1 / c.3100-1G>A / 2 / I / Splice / no / 5.27 / Listed in (3)
COL1A1 / c.3118G>A / p.Gly1040Ser / 4 / III (3), IV (1) / Gly / no / 1 / 0 / 5.27
COL1A1 / c.3135del / p.Gly1046Valfs*62 / 1 / I / HI / yes / Reported in (2)
COL1A1 / c.3136G>T / p.Gly1046Cys / 1 / IV / Gly / no / 1 / 0 / 5.27
COL1A1 / c.3158_3159insTCCTGGTCC / p.Pro1054_Pro1056dup / 1 / III / In-frame Duplication / no
COL1A1 / c.3207+1_3207+2del / 1 / I / Splice / no / 5.35
COL1A1 / c.3208-2_3213del / 1 / IV / Splice / yes / 4.41
COL1A1 / c.3226G>A / p.Gly1076Ser / 7 / III (1), IV (6) / Gly / no / 1 / 0 / 5.35
COL1A1 / c.3235G>A / p.Gly1079Ser / 8 / I (6), III (1), IV (1) / Gly / no / 1 / 0 / 5.39
COL1A1 / c.3309del / p.Asp1104Thrfs*4 / 2 / I / HI / yes
COL1A1 / c.3355_3360del / p.Pro1119_Pro1120del / 1 / I / In-frame Deletion / yes / Reported in (2)
COL1A1 / c.3360del / p.Gly1121Alafs*118 / 2 / I / HI / no / Reported in (2)
COL1A1 / c.3369+5G>C / 3 / I / Splice / yes / 5.47 / HSF: Most probably affecting splicing; found in affected mother and two affected children
COL1A1 / c.3385C>T / p.Gln1129* / 1 / I / HI / no / Reported in (2)
COL1A1 / c.3398G>C / p.Gly1133Ala / 1 / IV / Gly / no / 0.998 / 0 / 5.09
COL1A1 / c.3421C>T / p.Arg1141* / 4 / I / HI / no / Reported in (2)
COL1A1 / c.3423+5G>A / 1 / III / Splice / no / 5.01 / HSF: Most probably affecting splicing
COL1A1 / c.3424-3C>G / 1 / IV / Splice / no / 0.37 / Leads to skipping of exon 48 (3); present in affected mother and affected daughter
COL1A1 / c.3451G>A / p.Gly1151Ser / 3 / III (2), IV (1) / Gly / no / 0.999 / 0 / 5.03
COL1A1 / c.3505G>A / p.Gly1169Ser / 4 / IV / Gly / no / 1 / 0 / 4.82
COL1A1 / c.3531+1G>C / 2 / I / Splice / yes / 4.82
COL1A1 / c.3532-2A>G / 1 / IV / Splice / no / 4.08
COL1A1 / c.3559G>A / p.Gly1187Ser / 1 / III / Gly / no / 0.972 / 0 / 5.03
COL1A1 / c.3569G>A / p.Gly1190Asp / 1 / IV / Gly / no / 0.999 / 0 / 3.27
COL1A1 / c.3607C>T / p.Gln1203* / 1 / I / HI / no / Reported in (2)
COL1A1 / c.3647A>G / p.Tyr1216Cys / 1 / IV / Telopeptide / no / 0.999 / 0 / 3.47
COL1A1 / c.3718C>T / p.Gln1240* / 2 / I / HI / yes
COL1A1 / c.3824G>A / p.Trp1275* / 1 / I / HI / no
COL1A1 / c.3825G>A / p.Trp1275* / 1 / I / HI / yes
COL1A1 / c.3838C>T / p.Gln1280* / 1 / I / HI / no
COL1A1 / c.3853G>C / p.Asp1285His / 1 / IV / C-Pro / yes / 1 / 0.01 / 5.30 / De novo in affected child
COL1A1 / c.3895T>C / p.Cys1299Arg / 1 / IV / C-Pro / no / 0.997 / 0 / 4.35 / De novo in affected child
COL1A1 / c.3910C>T / p.Gln1304* / 1 / I / HI / no / Reported in (2)
COL1A1 / c.3975G>A / p.Trp1325* / 2 / I / HI / yes / Reported in (2)
COL1A1 / c.4051C>T / p.Gln1351* / 2 / I / HI / yes
COL1A1 / c.4092G>C / p.Gln1364His / 1 / IV / C-Pro / yes / 0.996 / 0 / 3.54
COL1A1 / c.4156A>T / p.Lys1386* / 1 / I / HI / yes
COL1A1 / c.4229_4237del / p.Val1410_Val1412del / 1 / IV / C-Pro / no
COL1A1 / c.4237G>A / p.Asp1413Asn / 1 / III / C-Pro / no / 0.999 / 0.03 / 5.23