Table 3

 Splice variants

ExongDNA nucleotideVariantcDNA alterationVariant effectWT SSVAR SSVariant detectionReference*
A, splice acceptor site; D, splice donor site; SS, splice site score (SSNN-BDGP); VAR, variant; WT, wildtype.
*Numbers indicate the following: 1current study, 2Furu et al,15 and 3Onuchic et al.5
Intronic
611224c.391-5 A→Gc.391-5 A→GLoss of acceptor siteA: 0.40A: <0.41/150Novel1
Novel acceptor site formationA: <0.40A: 0.70
1322521c.881-1 G→Ac.881-1 G→ALoss of acceptor siteA: 0.91A: <0.41/150Novel1
3364627c.5237-1 G→Ac.5237-1 G→ALoss of acceptor siteA: 0.97A: <0.41/150Novel1
3469941c.5381-2 A→Cc.5381-2 A→CLoss of acceptor siteA: 0.4A: <0.41/150Novel1
51239642c.7912-1 G→Cc.7912-1 G→CLoss of acceptor siteA: 0.37A: <0.31/150Novel1
1322619c.976+2 T→Ac.976+2 T→ALoss of donor siteD: 1.00D: <0.41/150Novel1
3577266c.5751+3 A→Gc.5751+3 A→GLoss of donor siteD: 0.91D: <0.41/150Novel1
37153506c.6121+3_6121 +4insTc.6121+3_6121 +4insTLoss of donor siteD: 0.99D: <0.41/150Novel1
40175816c.6490+2 T→Cc.6490+2 T→CLoss of donor siteD: 0.78D: <0.41/150Novel1
53256755c.8302+3 G→Cc.8302+3 G→CLoss of donor siteD: 0.87D: 0.231/150Novel1
Amino acid substitution
1424912p.G326Vc.977 G→TLoss of acceptor siteA: 0.59A: <0.41/1501, 2
2954542p.G1122Sc.3364 G→ALoss of donor siteD: 0.85D: <0.41/1501, 3
60340892p.R3333Tc.9998 G→CLoss of donor siteD: 0.91D: 0.211/150Novel1
2237415p.R760Hc.2279 G→ADecreased strength of donor siteD: 0.99D: 0.841/1501, 3
54296362p.G2809Rc.8425 G→AIncreased strength of alternate donor siteA: 0.32A: 0.461/150Novel1
65428413p.M3642Ic.10926 G→ANovel acceptor site formationA: <0.4A: 0.721/150Novel1