PMID: 19337156

The IC3D classification of the corneal dystrophies.

Cornea
JS Weiss, HU Møller, W Lisch, S Kinoshita, AJ Aldave, MW Belin, T Kivelä, M Busin, FL Munier, B Seitz, J Sutphin, C Bredrup, MJ Mannis, CJ Rapuano, G Van Rij, EK Kim, GK Klintworth
2008-12

272 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
10-31810445-G-T ZEB1 c.2182G>T p.Glu728* Nonsense 7/9 -
5-135392469-C-T TGFBI c.1663C>T p.Arg555Trp Missense 12/17 -
16-75513194-A-C CHST6 c.533T>G p.Phe178Cys Missense 3/3 -
2-163002063-G-A GCG c.379C>T p.Arg127* Nonsense 4/6 -
1-59042248-A-T TACSTD2 c.581T>A p.Val194Glu Missense 1/1 -
16-75513120-C-T CHST6 c.607G>A p.Asp203Asn Missense 3/3 -
5-135394815-A-G TGFBI c.1715A>G p.His572Arg Missense 13/17 -
9-124073097-G-A GSN c.640G>A p.Asp214Asn Missense 4/17 -
2-163002152-C-G GCG c.290G>C p.Arg97Thr Missense 4/6 -
16-75512924-T-C CHST6 c.803A>G p.Tyr268Cys Missense 3/3 -
5-135396598-TG-T TGFBI c.1879delG p.Val627Serfs*44 Frameshift 14/17 -
16-75512688-C-A CHST6 c.1039G>T p.Glu347* Nonsense 3/3 -
10-31810420-C-G ZEB1 c.2157C>G p.Tyr719* Nonsense 7/9 -
17-39019415-T-C KRT12 c.1276A>G p.Ile426Val Missense 6/8 -
2-163003962-C-T GCG c.155G>A p.Arg52His Missense 3/6 -
5-135392422-T-A TGFBI c.1616T>A p.Val539Asp Missense 12/17 -
16-75512912-C-T CHST6 c.815G>A p.Arg272His Missense 3/3 -
16-75513721-C-T CHST6 c.6G>A p.Trp2* Nonsense 3/3 -
1-11333949-C-G UBIAD1 c.361C>G p.Leu121Val Missense 1/2 -
2-209190647-C-T PIKFYVE c.3112C>T p.Arg1038* Nonsense 20/42 -
16-75512758-G-T CHST6 c.969C>A p.Ser323Ser Synonymous 3/3 -
20-3209009-GGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCA-G SLC4A11 c.2423_2454del32 p.Val808Alafs*44 Frameshift 19/20 -
5-135391459-C-A TGFBI c.1501C>A p.Pro501Thr Missense 11/17 -
16-75513364-G-C CHST6 c.363C>G p.Phe121Leu Missense 3/3 -
16-75513364-G-GG CHST6 c.364_364dupC p.Gln122Profs*100 Frameshift 3/3 -
1-59042310-G-GG TACSTD2 c.519_519dupC p.Ala174Argfs*43 Frameshift 1/1 -
2-163003900-C-G GCG c.217G>C p.Asp73His Missense 3/6 -
17-5336659-TT-T C1QBP c.654delA p.Glu218Aspfs*22 Frameshift 5/6 -
9-124079380-G-C GSN c.923G>C p.Gly308Ala Missense 7/17 -
1-11334099-T-C UBIAD1 c.511T>C p.Ser171Pro Missense 1/2 -
16-75513662-A-C CHST6 c.65T>G p.Leu22Arg Missense 3/3 -
16-75513209-A-G CHST6 c.518T>C p.Leu173Pro Missense 3/3 -
16-67693898-TA-T ACD c.399delT - UnclassifiedDeletion 2/12 -
20-3212035-ACTGGACCGTGGC-A SLC4A11 c.878_889del12 p.Ser293_val297delinsMet MultiAAMissense 8/20 -
17-39019414-A-C KRT12 c.1277T>G p.Ile426Ser Missense 6/8 -
2-163002102-G-A GCG c.340C>T p.Gln114* Nonsense 4/6 -
5-135392437-A-G TGFBI c.1631A>G p.Asn544Ser Missense 12/17 -
16-75513575-G-A CHST6 c.152C>T p.Ser51Leu Missense 3/3 -
20-3209283-G-A SLC4A11 c.2263C>T p.Leu755Leu Synonymous 18/20 -
2-209190623-G-T PIKFYVE c.3088G>T p.Glu1030* Nonsense 20/42 -
1-59042488-A-C TACSTD2 c.341T>G p.Phe114Cys Missense 1/1 -
16-75512987-AC-A CHST6 c.740delG p.Arg247Leufs*134 Frameshift 3/3 -
16-75513560-AC-AG CHST6 c.166_167delGTinsAG p.Val56Arg Missense 3/3 -
5-135388668-C-G TGFBI c.986C>G p.Thr329Ser Missense 8/17 -
20-3214918-G-A SLC4A11 c.334C>T p.Arg112Cys Missense 5/20 -
5-135392424-CTTT-C TGFBI c.1618_1620delTTT p.Phe540delPhe InFrameDeletion 12/17 -
10-31809217-A-AA ZEB1 c.954dupA p.Ser319Ilefs*17 Frameshift 7/9 -
5-135396593-T-A TGFBI c.1874T>A p.Val625Asp Missense 14/17 -
16-75513636-G-A CHST6 c.91C>T p.Pro31Ser Missense 3/3 -
16-75513726-T-A CHST6 c.1A>T p.Met1Leu Missense 3/3 -
1-11345727-G-A UBIAD1 c.556G>A p.Gly186Arg Missense 2/2 -
5-135392443-C-A TGFBI c.1637C>A p.Ala546Asp Missense 12/17 -
16-75512734-C-A CHST6 c.993G>T p.Gln331His Missense 3/3 -
2-209190086-C-T PIKFYVE c.2551C>T p.Arg851* Nonsense 20/42 -
16-75513095-C-T CHST6 c.632G>A p.Arg211Gln Missense 3/3 -
16-75513232-G-C CHST6 c.495C>G p.Cys165Trp Missense 3/3 -
16-75512907-C-T CHST6 c.820G>A p.Glu274Lys Missense 3/3 -
5-135391484-T-G TGFBI c.1526T>G p.Leu509Arg Missense 11/17 -
16-75512672-G-C CHST6 c.1055C>G p.Ala352Gly Missense 3/3 -
5-135396575-T-A TGFBI c.1856T>A p.Met619Lys Missense 14/17 -
2-163003935-T-G GCG c.182A>C p.Asp61Ala Missense 3/6 -
10-31809839-GT-TA ZEB1 c.1576_1577delGTinsTA p.Val526* Nonsense 7/9 -
1-11333923-A-G UBIAD1 c.335A>G p.Asp112Gly Missense 1/2 -
16-75512981-T-G CHST6 c.746A>C p.His249Pro Missense 3/3 -
10-31608197-C-T ZEB1 c.34C>T p.Gln12* Nonsense 1/9 -
16-75513118-G-T CHST6 c.609C>A p.Asp203Glu Missense 3/3 -
1-59042474-A-T TACSTD2 c.355T>A p.Cys119Ser Missense 1/1 -
2-163003928-G-C GCG c.189C>G p.Ser63Arg Missense 3/6 -
20-3214194-C-T SLC4A11 c.695G>A p.Arg232Gln Missense 7/20 -
1-59042477-G-C TACSTD2 c.352C>G p.Gln118Glu Missense 1/1 -
16-75513123-G-T CHST6 c.604C>A p.Arg202Ser Missense 3/3 -
1-11333941-A-G UBIAD1 c.353A>G p.Asp118Gly Missense 1/2 -
10-31815807-GAG-G ZEB1 c.2990_2991delAG p.Glu997Alafs*7 Frameshift 9/9 -
16-75513044-GT-GA CHST6 c.682_683delACinsGA p.Thr228Asp Missense 3/3 -
16-75513232-G-A CHST6 c.495C>T p.Cys165Cys Synonymous 3/3 -
1-11345879-C-G UBIAD1 c.708C>G p.Asp236Glu Missense 2/2 -
16-75513555-G-A CHST6 c.172C>T p.Gln58* Nonsense 3/3 -
2-228169710-G-C COL4A3 c.4163G>C p.Gly1388Ala Missense 47/52 -
5-135391472-T-A TGFBI c.1514T>A p.Val505Asp Missense 11/17 -
16-75513422-C-T CHST6 c.305G>A p.Cys102Tyr Missense 3/3 -
5-135382095-C-A TGFBI c.370C>A p.Arg124Ser Missense 4/17 -
16-75513031-C-T CHST6 c.696G>A p.Trp232* Nonsense 3/3 -
5-135396611-T-A TGFBI c.1892T>A p.Val631Asp Missense 14/17 -
17-80858570-G-A TBCD c.1693G>A p.Asp565Asn Missense 18/39 -
5-135390419-A-AACG TGFBI c.1279_1280insACG p.Ile427delinsAsnval MultiAAMissense 10/17 -
16-75513603-G-A CHST6 c.124C>T p.His42Tyr Missense 3/3 -
1-36563933-A-C COL8A2 c.1349T>G p.Leu450Trp Missense 4/4 -
9-124073097-G-T GSN c.640G>T p.Asp214Tyr Missense 4/17 -
16-75513096-G-A CHST6 c.631C>T p.Arg211Trp Missense 3/3 -
16-75513230-C-G CHST6 c.497G>C p.Arg166Pro Missense 3/3 -
2-163000589-G-C GCG c.484C>G p.Leu162Val Missense 5/6 -
17-5342392-A-C C1QBP c.2T>G p.Met1Arg Missense 1/6 -
1-59042210-G-A TACSTD2 c.619C>T p.Gln207* Nonsense 1/1 -
5-135382980-T-C TGFBI c.642T>C p.Cys214Cys Synonymous 6/17 -
17-39019405-T-C KRT12 c.1286A>G p.Tyr429Cys Missense 6/8 -
17-39023035-C-A KRT12 c.404G>T p.Arg135Ile Missense 1/8 -
16-75513198-G-A CHST6 c.529C>T p.Arg177Cys Missense 3/3 -
17-39023035-C-G KRT12 c.404G>C p.Arg135Thr Missense 1/8 -
5-135396596-A-G TGFBI c.1877A>G p.His626Arg Missense 14/17 -
5-135390488-T-TCTG TGFBI c.1348_1349insCTG p.Tyr450delinsSerasp MultiAAMissense 10/17 -
5-135392418-A-C TGFBI c.1612A>C p.Thr538Pro Missense 12/17 -
2-209168924-C-T PIKFYVE c.1350C>T p.Pro450Pro Synonymous 11/42 -
5-135392458-C-A TGFBI c.1652C>A p.Pro551Gln Missense 12/17 -
16-75513149-A-G CHST6 c.578T>C p.Leu193Pro Missense 3/3 -
16-75513045-T-C CHST6 c.682A>G p.Thr228Ala Missense 3/3 -
5-135382096-G-T TGFBI c.371G>T p.Arg124Leu Missense 4/17 -
5-135382096-G-A TGFBI c.371G>A p.Arg124His Missense 4/17 -
16-75513309-G-A CHST6 c.418C>T p.Arg140* Nonsense 3/3 -
16-75513423-A-C CHST6 c.304T>G p.Cys102Gly Missense 3/3 -
1-11334112-C-T UBIAD1 c.524C>T p.Thr175Ile Missense 1/2 -
16-75512680-G-C CHST6 c.1047C>G p.Cys349Trp Missense 3/3 -
2-163005645-A-G GCG c.44T>C p.Val15Ala Missense 2/6 -
16-75513157-G-GG CHST6 c.573dupC p.Ala192Argfs*30 Frameshift 3/3 -
16-75513070-C-CCAG CHST6 c.656_657insCTG p.Ala219_arg220insTrp InFrameInsertion 3/3 -
2-163002132-T-C GCG c.310A>G p.Thr104Ala Missense 4/6 -
16-75513111-C-T CHST6 c.616G>A p.Ala206Thr Missense 3/3 -
16-75513206-T-C CHST6 c.521A>G p.Lys174Arg Missense 3/3 -
5-135396598-GT-AG TGFBI c.1879_1880delGTinsAG p.Val627Ser Missense 14/17 -
10-31809650-TCCTT-T ZEB1 c.1387_1390delCCTT p.Pro463Trpfs*29 Frameshift 7/9 -
1-11334117-G-A UBIAD1 c.529G>A p.Gly177Arg Missense 1/2 -
17-39023053-A-G KRT12 c.386T>C p.Met129Thr Missense 1/8 -
1-59042579-T-A TACSTD2 c.250A>T p.Lys84* Nonsense 1/1 -
16-75512802-C-A CHST6 c.925G>T p.Gly309* Nonsense 3/3 -
16-75513098-G-A CHST6 c.629C>T p.Ser210Phe Missense 3/3 -
2-163000579-C-G GCG c.494G>C p.Arg165Thr Missense 5/6 -
16-75512913-G-T CHST6 c.814C>A p.Arg272Ser Missense 3/3 -
2-163000579-C-T GCG c.494G>A p.Arg165Lys Missense 5/6 -
16-75512576-G-T CHST6 c.1151C>A p.Thr384Asn Missense 3/3 -
17-39023030-C-G KRT12 c.409G>C p.Ala137Pro Missense 1/8 -
17-39019406-A-C KRT12 c.1285T>G p.Tyr429Asp Missense 6/8 -
2-163002122-A-G GCG c.320T>C p.Val107Ala Missense 4/6 -
16-75512736-G-A CHST6 c.991C>T p.Gln331* Nonsense 3/3 -
16-75513116-G-T CHST6 c.611C>A p.Pro204Gln Missense 3/3 -
16-75513116-G-C CHST6 c.611C>G p.Pro204Arg Missense 3/3 -
17-5336401-CTGTGCTGAGCTC-C C1QBP c.773_784del12 p.Glu258_thr261del InFrameDeletion 6/6 -
17-80861281-G-T TBCD c.1731G>T p.Gly577Gly Synonymous 19/39 -
1-59042268-GG-G TACSTD2 c.564delC p.Lys189Serfs*82 Frameshift 1/1 -
20-3211255-TTGAAGT-T SLC4A11 c.1319_1324delTCAACT p.Phe440_asn441del InFrameDeletion 12/20 -
2-163002113-T-C GCG c.329A>G p.Tyr110Cys Missense 4/6 -
16-75513450-G-T CHST6 c.277C>A p.Arg93Ser Missense 3/3 -
5-135394806-T-G TGFBI c.1706T>G p.Leu569Arg Missense 13/17 -
2-163003915-A-G GCG c.202T>C p.Ser68Pro Missense 3/6 -
16-75513128-A-C CHST6 c.599T>G p.Leu200Arg Missense 3/3 -
8-125568522-G-C MTSS1 c.1355C>G p.Ala452Gly Missense 12/14 -
17-39023012-C-G KRT12 c.427G>C p.Val143Leu Missense 1/8 -
16-75513434-GA-CT CHST6 c.292_293delTCinsCT p.Ser98Leu Missense 3/3 -
16-75513059-C-T CHST6 c.668G>A p.Gly223Asp Missense 3/3 -
1-59042777-G-A TACSTD2 c.52C>T p.Leu18Leu Synonymous 1/1 -
5-135382095-C-T TGFBI c.370C>T p.Arg124Cys Missense 4/17 -
16-75513197-C-T CHST6 c.530G>A p.Arg177His Missense 3/3 -
10-31809595-TCAAT-T ZEB1 c.1332_1335delCAAT p.Ile444Metfs*48 Frameshift 7/9 -
12-53185017-C-G KRT3 c.1508G>C p.Arg503Pro Missense 7/9 -
9-124073111-G-A GSN c.654G>A p.Leu218Leu Synonymous 4/17 -
16-75513579-G-T CHST6 c.148C>A p.Arg50Ser Missense 3/3 -
16-75513579-G-A CHST6 c.148C>T p.Arg50Cys Missense 3/3 -
12-53185000-C-T KRT3 c.1525G>A p.Glu509Lys Missense 7/9 -
9-124073111-G-T GSN c.654G>T p.Leu218Leu Synonymous 4/17 -
2-163003886-C-G GCG c.231G>C p.Trp77Cys Missense 3/6 -
16-75513531-C-G CHST6 c.196G>C p.Val66Leu Missense 3/3 -
2-163003886-C-T GCG c.231G>A p.Trp77* Nonsense 3/6 -
16-75513113-C-A CHST6 c.614G>T p.Arg205Leu Missense 3/3 -
5-135382099-ACGGAGA-A TGFBI c.374_379delCGGAGA p.Thr125_glu126del InFrameDeletion 4/17 -
16-75513569-G-A CHST6 c.158C>T p.Ser53Leu Missense 3/3 -
2-209184995-AA-A PIKFYVE c.2102delA p.Asn701Thrfs*7 Frameshift 17/42 -
17-39023034-T-G KRT12 c.405A>C p.Arg135Ser Missense 1/8 -
16-75513113-C-T CHST6 c.614G>A p.Arg205Gln Missense 3/3 -
16-75513268-G-T CHST6 c.459C>A p.Cys153* Nonsense 3/3 -
17-39023040-A-C KRT12 c.399T>G p.Asn133Lys Missense 1/8 -
16-75512983-G-A CHST6 c.744C>T p.Ser248Ser Synonymous 3/3 -
1-59042272-A-G TACSTD2 c.557T>C p.Leu186Pro Missense 1/1 -
20-3214264-G-A SLC4A11 c.625C>T p.Gln209* Nonsense 7/20 -
5-135394814-CCAC-C TGFBI c.1714_1716delCAC p.His572delHis InFrameDeletion 13/17 -
16-75513134-A-T CHST6 c.593T>A p.Val198Glu Missense 3/3 -
16-75512983-G-C CHST6 c.744C>G p.Ser248Arg Missense 3/3 -
16-75513693-GTCACTGCTGTGCTGGAGACGCGCGG-G CHST6 c.16_40del25 p.Val6Serfs*56 Frameshift 3/3 -
16-75512655-A-C CHST6 c.1072T>G p.Tyr358Asp Missense 3/3 -
10-31799759-C-T ZEB1 c.640C>T p.Gln214* Nonsense 5/9 -
10-31815733-CTG-C ZEB1 c.2916_2917delTG p.Gly973Valfs*14 Frameshift 9/9 -
16-75513519-T-A CHST6 c.208A>T p.Met70Leu Missense 3/3 -
16-75513453-C-G CHST6 c.274G>C p.Val92Leu Missense 3/3 -
5-135382062-G-A TGFBI c.337G>A p.Val113Ile Missense 4/17 -
16-75513227-G-A CHST6 c.500C>T p.Ser167Phe Missense 3/3 -
16-75513720-G-T CHST6 c.7C>A p.Leu3Met Missense 3/3 -
16-75513519-T-G CHST6 c.208A>C p.Met70Leu Missense 3/3 -
5-135392359-T-C TGFBI c.1553T>C p.Leu518Pro Missense 12/17 -
10-31809236-C-T ZEB1 c.973C>T p.Arg325* Nonsense 7/9 -
5-135392442-G-A TGFBI c.1636G>A p.Ala546Thr Missense 12/17 -
5-135396592-GGTC-G TGFBI c.1873_1875delGTC p.Val625delVal InFrameDeletion 14/17 -
16-75513066-C-A CHST6 c.661G>T p.Asp221Tyr Missense 3/3 -
1-59042507-A-G TACSTD2 c.322T>C p.Cys108Arg Missense 1/1 -
1-36563919-G-T COL8A2 c.1363C>A p.Gln455Lys Missense 4/4 -
5-135396583-A-C TGFBI c.1864A>C p.Asn622His Missense 14/17 -
1-59042197-CT-C TACSTD2 c.632delA p.Gln211Argfs*60 Frameshift 1/1 -
16-75513110-G-A CHST6 c.617C>T p.Ala206Val Missense 3/3 -
5-135396596-A-C TGFBI c.1877A>C p.His626Pro Missense 14/17 -
16-75513078-C-T CHST6 c.649G>A p.Ala217Thr Missense 3/3 -
20-3211185-C-T SLC4A11 c.1391G>A p.Ser464Asn Missense 12/20 -
17-80858541-G-A TBCD c.1664G>A p.Gly555Asp Missense 18/39 -
16-75512855-AG-A CHST6 c.872delC p.Thr291Metfs*90 Frameshift 3/3 -
5-135396589-CGTGGTC-C TGFBI c.1870_1875delGTGGTC p.Val624_val625del InFrameDeletion 14/17 -
20-3209865-C-A SLC4A11 c.1894G>T p.Ala632Ser Missense 16/20 -
2-163002073-C-T GCG c.369G>A p.Leu123Leu Synonymous 4/6 -
17-39023050-T-G KRT12 c.389A>C p.Gln130Pro Missense 1/8 -
1-11345866-A-G UBIAD1 c.695A>G p.Asn232Ser Missense 2/2 -
5-135396608-A-ACGTACCTAA TGFBI c.1889_1890insCGTACCTAA p.Val631_leu632insProasnval InFrameInsertion 14/17 -
16-75513335-G-A CHST6 c.392C>T p.Ser131Leu Missense 3/3 -
17-39023045-G-C KRT12 c.394C>G p.Leu132Val Missense 1/8 -
16-75512900-A-G CHST6 c.827T>C p.Leu276Pro Missense 3/3 -
16-75513336-A-G CHST6 c.391T>C p.Ser131Pro Missense 3/3 -
16-75513518-A-T CHST6 c.209T>A p.Met70Lys Missense 3/3 -
16-75513449-C-T CHST6 c.278G>A p.Arg93His Missense 3/3 -
16-75513551-A-G CHST6 c.176T>C p.Leu59Pro Missense 3/3 -
16-75513531-C-A CHST6 c.196G>T p.Val66Phe Missense 3/3 -
17-39023020-A-C KRT12 c.419T>G p.Leu140Arg Missense 1/8 -
1-59042320-G-T TACSTD2 c.509C>A p.Ser170* Nonsense 1/1 -
5-135392386-T-G TGFBI c.1580T>G p.Leu527Arg Missense 12/17 -
5-135390443-C-A TGFBI c.1303C>A p.Leu435Ile Missense 10/17 -
5-135394881-G-T TGFBI c.1781G>T p.Gly594Val Missense 13/17 -
17-80726419-G-T TBCD c.559G>T p.Asp187Tyr Missense 5/39 -
17-80726419-G-A TBCD c.559G>A p.Asp187Asn Missense 5/39 -
2-163003900-C-T GCG c.217G>A p.Asp73Asn Missense 3/6 -
5-135392446-T-C TGFBI c.1640T>C p.Phe547Ser Missense 12/17 -
16-75512880-C-T CHST6 c.847G>A p.Glu283Lys Missense 3/3 -
1-59042018-TT-T TACSTD2 c.812delA p.Lys271Serfs*26 Frameshift 1/1 -
16-75513064-G-C CHST6 c.663C>G p.Asp221Glu Missense 3/3 -
1-59042150-C-T TACSTD2 c.679G>A p.Glu227Lys Missense 1/1 -
16-75513513-G-A CHST6 c.214C>T p.Pro72Ser Missense 3/3 -
5-135392419-C-G TGFBI c.1613C>G p.Thr538Arg Missense 12/17 -
1-11333893-A-G UBIAD1 c.305A>G p.Asn102Ser Missense 1/2 -
16-75513362-T-G CHST6 c.365A>C p.Gln122Pro Missense 3/3 -
10-31809841-G-GG ZEB1 c.1578dupG p.Asn527Glufs*2 Frameshift 7/9 -
17-39023036-T-C KRT12 c.403A>G p.Arg135Gly Missense 1/8 -
2-209212663-AC-GG PIKFYVE c.5290_5291delACinsGG p.Thr1764Gly Missense 35/42 -
2-209185009-TCT-T PIKFYVE c.2116_2117delCT p.Leu706Valfs*6 Frameshift 17/42 -
5-135392425-T-C TGFBI c.1619T>C p.Phe540Ser Missense 12/17 -
2-209190497-C-T PIKFYVE c.2962C>T p.Gln988* Nonsense 20/42 -
16-75513715-GCG-G CHST6 c.15_16delCG p.Val6Leufs*102 Frameshift 3/3 -
16-75512727-G-A CHST6 c.1000C>T p.Arg334Cys Missense 3/3 -
10-31809611-C-T ZEB1 c.1348C>T p.Gln450* Nonsense 7/9 -
20-3208438-G-A SLC4A11 c.2623C>T p.Pro875Ser Missense 20/20 -
17-80842051-A-AA TBCD c.1506_1506dupA p.Asp503Argfs*27 Frameshift 15/39 -
16-75513590-A-G CHST6 c.137T>C p.Leu46Pro Missense 3/3 -
5-135398363-G-C TGFBI c.1998G>C p.Arg666Ser Missense 16/17 -
5-135396585-T-A TGFBI c.1866T>A p.Asn622Lys Missense 14/17 -
16-75512742-C-G CHST6 c.985G>C p.Val329Leu Missense 3/3 -
16-75513676-GC-G CHST6 c.51delG p.Gln18Argfs*52 Frameshift 3/3 -
16-75513182-CT-C CHST6 c.545delA p.Gln182Argfs*199 Frameshift 3/3 -
1-59042477-G-A TACSTD2 c.352C>T p.Gln118* Nonsense 1/1 -
5-135382092-G-C TGFBI c.367G>C p.Asp123His Missense 4/17 -
17-80763785-C-G TBCD c.985C>G p.Leu329Val Missense 10/39 -
16-75513232-GC-AG CHST6 c.494_495delinsCT p.Cys165Ser Missense 3/3 -
16-75513547-TG-T CHST6 c.180delC p.Phe60Leufs*10 Frameshift 3/3 -
16-75512726-C-T CHST6 c.1001G>A p.Arg334His Missense 3/3 -
16-75512838-GG-G CHST6 c.890delC p.Pro297Hisfs*84 Frameshift 3/3 -
16-75513529-AG-A CHST6 c.198delC p.Phe67Serfs*3 Frameshift 3/3 -
16-75512989-G-C CHST6 c.738C>G p.Cys246Trp Missense 3/3 -
1-59042278-T-C TACSTD2 c.551A>G p.Tyr184Cys Missense 1/1 -
16-75513501-C-T CHST6 c.226G>A p.Val76Met Missense 3/3 -
2-163003956-G-A GCG c.161C>T p.Ser54Leu Missense 3/6 -
16-75512651-CCGGTAGCCCAGCAGCTGCAGCGC-C CHST6 c.1056_1078del23 p.Leu353Cysfs*4 Frameshift 3/3 -
16-75513272-A-G CHST6 c.455T>C p.Leu152Pro Missense 3/3 -
16-75512681-C-T CHST6 c.1046G>A p.Cys349Tyr Missense 3/3 -
9-124081110-C-A GSN c.1296C>A p.Ala432Ala Synonymous 9/17 -
20-3209056-G-A SLC4A11 c.2407C>T p.His803Tyr Missense 19/20 -
5-135396585-T-G TGFBI c.1866T>G p.Asn622Lys Missense 14/17 -
16-75513344-G-A CHST6 c.383C>T p.Ala128Val Missense 3/3 -
17-5342196-G-T C1QBP c.198C>A p.Ala66Ala Synonymous 1/6 -
5-135396587-G-A TGFBI c.1868G>A p.Gly623Asp Missense 14/17 -
1-11333943-A-G UBIAD1 c.355A>G p.Arg119Gly Missense 1/2 -
2-209190843-A-G PIKFYVE c.3308A>G p.Lys1103Arg Missense 20/42 -
16-75513578-C-A CHST6 c.149G>T p.Arg50Leu Missense 3/3 -
16-75513483-G-A CHST6 c.244C>T p.Gln82* Nonsense 3/3 -