Table 4: Detailed analysis of EYS variants.
Summary of EYS variants identified in the patient cohort, including functional analyses.
| dbSNP | Chr | GRCh37 | Nucleotide Change | Protein Variant | Count in Cohort | Allele Frequency | M-CAP | REVEL | Eigen | CADD | DANN | ClinVar Significance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| -- | 6 | 66115144 | c.963_979delAAAAGGATCTTCCAGCC | p.Pro321Profs | 1 | |||||||
| rs143994166 | 6 | 66112400 | c.1155T>A | p.Cys385Ter | 2 | 0.0007 | −0.3334 | 28.2 | 0.983 | Likely pathogenic | ||
| -- | 6 | 66063502 | c.1308C>A | p.Cys436Ter | 1 | 0.000004073 | −0.0979 | 35 | 0.974 | |||
| rs752504462 | 6 | 66044995 | c.1641_1644delTCAG | p.Ser547Argfs | 1 | 0.000004084 | ||||||
| -- | 6 | 66044994 | c.1645G>T | p.Glu549Ter | 1 | −0.2863 | 25.8 | 0.965 | ||||
| rs749103801 | 6 | 66005817 | c.1961_1962insA | p.Asn654Lysfs | 1 | 0.000006599 | ||||||
| -- | 6 | 65596589 | c.2992+1G>A | 1 | 0.6634 | 23.3 | 0.931 | |||||
| rs778646190 | 6 | 65523464 | c.3250A>C | p.Thr1084Pro | 2 | 0.00006855 | 0.04 | 0.18 | −1.1326 | 0.322 | Uncertain | |
| rs373441420 | 6 | 65523270 | c.3443+1G>T | 3 | 0.00002119 | 0.846 | 23.4 | 0.976 | Pathogenic | |||
| -- | 6 | 65336027 | c.3555C>G | p.Cys1185Trp | 1 | 0.84 | 0.85 | 0.6131 | 26.4 | 0.99 | ||
| rs928803207 | 6 | 65301640 | c.4120C>T | p.Arg1374Ter | 2 | 0.00001347 | −0.0156 | 35 | 0.997 | |||
| rs778752557 | 6 | 65301358 | c.4402G>C | p.Asp1468His | 2 | 0.00008771 | 0.06 | 0.33 | −0.0124 | 24.5 | 0.994 | Uncertain |
| -- | 6 | 65150442 | c.5645-1197-c.5927+3169 | 1 | ||||||||
| -- | 6 | 65098733 | c.5928delG | p.Arg1976Serfs | 1 | |||||||
| rs749909863 | 6 | 64940493 | c.6416G>A | p.Cys2139Tyr | 1 | 0.0001 | 0.35 | 0.76 | 0.6828 | 29.5 | 0.997 | Uncertain | Pathogenic |
| -- | 6 | 64791744 | c.6571+5G>A | 1 | 0.00001486 | 1.3819 | 14.39 | 0.786 | ||||
| rs752953889 | 6 | 64776242 | c.6714delT | p.Ile2239Serfs | 1 | 0.00003948 | Likely pathogenic | |||||
| rs758109813 | 6 | 64709008 | c.6794delC | p.Pro2265Glnfs | 3 | 0.0002 | Pathogenic | |||||
| -- | 6 | 64498950 | c.7578+1G>A | 2 | 0.0000133 | 1.0605 | 25.9 | 0.996 | ||||
| rs527236076 | 6 | 64472413 | c.8012T>A | p.Leu2671Ter | 1 | 0.00001987 | 0.09 | 0.3156 | 37 | 0.984 | Likely pathogenic | |
| rs779983752 | 6 | 64436534 | c.8111T>G | p.Leu2704Ter | 2 | 0.00004052 | 0.6781 | 47 | 0.987 | |||
| -- | 6 | 64431514 | c.8413dupA | p.Thr2805Asnfs | 1 | |||||||
| rs528919874 | 6 | 64431272 | c.8648_8655delCATGCAGA | p.Thr2883Lysfs | 1 | 0.0008 | ||||||
| rs770748359 | 6 | 64430632 | c.9286_9295delGTAAATATCG | p.Val3096Leufs | 2 | 0.0002 | Pathogenic | |||||
| rs769824975 | 6 | 64430625 | c.9299_9302delCTCA | p.Thr3100Lysfs | 1 | 0.00004015 | ||||||
| -- | 6 | 64430591 | c.9317_9336delCCAATTTTGTTGGCAAAATT | p.Thr3106Lysfs | 1 | 0.00000672 | ||||||
| -- | 6 | 64430540 | c.9383_9387delAATTA | p.Lys3128Argfs | 1 |
All reference sequences are NM_001142800.1 HGVS.