69 The new c.3655Gb0e;C, p.A1219P variant was detected by NGS.

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ABCA4 p.Ala1219Pro 21911583:69:27

status: NEW

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120 Novel Variants Detected by NGS in the ABCA4 Gene and Results of Analysis Using Bioinformatics Software Nucleotide Change Protein Splicing Score Original Splicing Score for New Variant Average Difference Polyphen SIFT SpliceSite Finder-like Gene Splicer SpliceSite Finder-like Gene Splicer c.91Tb0e;C p.W31R 0 0 0 0 0 Probably damaging (0.999) W c.184Cb0e;T p.P62S 0 0 0 0 0 Probably damaging (0.999) P c.770Tb0e;G p.L257R 0 0 0 0 0 Possibly damaging (0.308) m i F L c.1253Tb0e;C p.F418S 0 0 0 0 0 Probably damaging (0.999) F c.1531Cb0e;T p.R511C 0 0 0 0 0 Probably damaging (1.000) R c.1745Ab0e;G p.N582S 0 0 0.74 0.82 77.8 Probably damaging (0.894) d K N c.1868Ab0e;G p.Q623R 0 0.24 0 0 12.1 Probably damaging (0.937) Q c.1964Tb0e;G p.F655C 0 0 0 0 0 Probably damaging (0.999) F c.1977Gb0e;A p.M659I 0 0 0.75 0.85 79.8 Probably damaging (0.999) M c.2243Gb0e;A p.C748Y 0 0 0 0 0 Probably damaging (0.928) g S A C c.2401Gb0e;A p.A801T 0 0 0 0 0 Probably damaging (0.98) A c.2893Ab0e;T p.N965Y 0 0 0 0 0 Probably damaging (0.999) N c.3148Gb0e;A p.G1050S 0 0 0 0 0 Possibly damaging (0.786) G c.3205Ab0e;G p.K1069E 0 0 0 0 0 Probably damaging (0.993) K c.3279Cb0e;A p.D1093E 0 0 0 0 0 Probably damaging (0.99) D c.3350Cb0e;T p.T1117I 0 0 0 0 0 Probably damaging (0.995) T c.3655Gb0e;C p.A1219P 0.77 0 0.74 0 1.5 Probably damaging (0.991) A c.3812Ab0e;G p.E1271G 0.8 0.35 0.71 0 21.8 Probably damaging (0.995) E c.4177Gb0e;A p.V1393I 0 0 0 0 0 Benign (0.000) VI c.4217Ab0e;G p.H1406R 0 0 0 0 0 Probably damaging (0.986) r p q a t k e g n S D H c.4248Cb0e;A p.F1416L 0.79 0.1 0.79 0.1 0.27 Probably damaging (0.891) F c.4326Cb0e;A p.N1442K 0 0 0 0 0 Possibly damaging (0.374) a g d s T N c.4467Gb0e;T p.R1489S 0.85 0.43 0.78 0.24 12.8 Benign (0.047) p h l s n a e T Q K R c.4670Ab0e;G p.Y1557C 0.85 0.13 0.80 0 8.8 Probably damaging (0.999) f W Y c.5138Ab0e;G p.Q1713R 0 0 0 0 0 Probably damaging (0.997) Q c.5177Cb0e;A p.T1726N 0 0 0 0 0 Probably damaging (0.880) s A T c.5646Gb0e;A p.M1882I 0 0 0.75 0 37.4 Probably damaging (0.999) M c.6306Cb0e;A p.D2102E 0 0 0 0 0 Probably damaging (0.99) D c.6718Ab0e;G p.T2240A 0 0 0 0 0 Probably damaging (0.991) T c.160af9;2Tb0e;C 0.81 0.86 0.79 0 44.4 c.1240afa;2Ab0e;G 0.82 0.81 0 0 81.5 c.2382af9;1Gb0e;A 0.79 0.64 0 0 71.7 c.2919afa;2Ab0e;G 0.9 0.92 0 0 90.9 c.3522af9;5delG 0.87 0.57 0 0.18 63 c.3523afa;1Gb0e;A 0.9 0.89 0 0 89 Splice site shift of 1 bp c.3814afa;2Ab0e;G 0.91 0.9 0 0 90.6 c.4352af9;1Gb0e;A 0.74 0.82 0 0 78 c.4635afa;1Gb0e;T 0.86 0.89 0 0 87.5 New splice site 7 bp downstream c.5312af9;1Gb0e;A 0.81 0.91 0 0 86.1 c.5836afa;2Ab0e;C 0.89 0.87 0 0 88 c.6387afa;1Gb0e;T 0.77 0.87 0 0 82 c.6479af9;1Gb0e;A 0.82 0.87 0 0 85 c.6479af9;1Gb0e;C 0.82 0.31 0 0 56.6 c.1100afa;6Tb0e;A 0 0 0.9 0.93 91.6 Creates new splice site c.351_352delAG p.S119fs Frameshift c.564delA p.E189Cfs Frameshift c.885delC p.L296Cfs Frameshift c.1374delA p.T459Qfs Frameshift c.3543delT p.K1182Rfs Frameshift c.3846delA p.G1283Dfs Frameshift c.4734delG p.L1580* Stop codon c.5932delA p.T1979Qfs Frameshift c.6317_6323del p.R2107_ GCCGCAT M2108delfs Frameshift c.121Gb0e;A p.W41* Stop codon c.318Tb0e;G p.Y106* Stop codon c.1906Cb0e;T p.Q636* Stop codon c.4639Ab0e;T p.K1547* Stop codon For SpliceSiteFinder and GeneSplicer, 1 is the highest score for splice site activity and 0 is the lowest.

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ABCA4 p.Ala1219Pro 21911583:120:1335

status: NEW

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