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Table 2 Details of the identified pathogenic/likely pathogenic variants

From: Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

Nucleotide change Amino acid change Exon Previously reported? Number of families
ENG
c.-127C > T decreased translation   No 1
c.67 + 1G > A splicing defects   No 1
c.97C > T p.Gln33* 2 Yes 1
c.125 T > G p.Val42Gly 2 No 1
c.132_133delTA p.Thr45Hisfs 2 No 1
c.219G > A p.Thr73 = (skipping of exon 2) 2 No 2
c.239 T > C p.Leu80Pro 3 No 1
c.277C > T p.Arg93* 3 Yes 1
c.277delC p.Arg93Glufs*9 3 No 1
c.319delC p.Leu107Cys fs 3 No 1
c.357C > G p.Tyr120Ilefs*42 3 No 1
c.360 + 1G > C splicing defects   No 1
c.360 + 1G > A splicing defects   No 3
c.433delC p.Gln145Argfs*18 4 No 1
c.461_462insG p.Ile156Hisfs 4 No 1
c.478delG p.Ala160Leufs*3 4 No 1
c.494C > A p.Pr165His 4 No 1
c.497A > C p.Gln166Pro 4 Yes 2
c.524-1G > C splicing defects   No 1
c.581_595del15b p.Leu194_Pro198del5AA 5 No 1
c.586 T > A p.Trp196Arg 5 No 1
c.611_628del18b p.Val204_Leu209del 5 No 1
c.614G > C p.Arg205Pro 5 Yes 1
c.647_658del p.His215_Ala218del 5 No 1
c.685delG p.Ala229Profs*5 5 No 1
c.760C > T p.Gln254* 6 No 1
c.785 T > C p.L262P 6 Yes 1
c.816 + 2 T > A splicing defects   No 3
c.817-1G > C splicing defects   No 1
c.937 T > C p.Ser313Pro 7 No 1
c.944 T > A p.Val315Glu 7 No 1
c.952-961del10b p.Pro318Alafs 7 No 1
c.965_966delTT p.Ile322Serfs*11 7 No 1
c.991G > A p.Gly331Ser 7 Yes 1
c.992-1G > A splicing defects   No 1
c.1087 T > A p.Cys363Ser 8 Yes 1
c.1089 T > G p.Cys363Trp 8 No 1
c.1103 T > C p.Met368Thr 8 Yes 2
c.1109 T > C p.Leu370Pro 8 Yes 1
c.1134G > A p.Ala378 = (splicing defect) 8 Yes 1
c.1134 + 1G > C splicing defects   No 1
c.1134 + 1delG splicing defects   No 1
c.1140_1141insCTACCCAGCATTTG p.Lys381Leufs*5 9 No 1
c.1160_1173delTGACCTTCTGGGAC p.Leu387Profs*4 9 No 1
c.1169G > A p.Trp390* 9 Yes 1
c.1181G > A p.Cys394Tyr 9 Yes 1
c.1195delA p.Arg399Glyfs*22 9 No 1
c.1209_1210insTT p.Val404Leufs*18 9 No 1
c.1235G > A p.Cys412Tyr 9 Yes 2
c.1268A > G p.Asn423Ser 9 Yes 1
c.1306C > T p.Gln436* 10 Yes 1
c.1311 + 2 T > C splicing defects   No 3
c.1319 T > C p.Val440Ala 11 No 1
c.1346_1347delCT p.Ser449Phefs*51 11 No 1
c.1411C > T p.Gln471* 11 Yes 1
c.1429-2A > G splicing defects   No 1
c.1465C > T p.Gln489* 12 No 1
c.1513G > T p.Glu505* 12 Yes 1
c.1517 T > C p.Leu506Pro 12 Yes 2
c.1649_1650insAC p.Val551Argfs*2 12 No 1
c.1672_1684del13b p.Gly558fs 12 No 1
c.1675_1678delTCTC p.Ser559Lysfs*13 12 No 1
c.1687delG p.Glu563Lys fs 13 No 1
del exons 3–8   3–8 No 1
del exons 3–8   3–8 No 1
del exons 3–14   3–14 No 1
del exons 13–14   13–14 No 1
del exons 9–14   9–14 No 1
ACVRL1
c.90_102delGCTGGTGACCTGC p.Leu31Argfs*19 3 No 2
c.95 T > A p.Val32Glu 3 No 1
c.203delG p.Gly68Alafs*54 3 No 1
c.270C > G p.Cys90Trp 3 Yes 1
c.352C > T p.Gln118* 4 Yes 1
c.430C > T p.Arg144* 4 Yes 1
c.448C > T p.Q150* 4 Yes 2
c.480_486dupCAGTCTC p.Ile163fs 4 No 1
c.505C > T p.Gln169* 4 Yes 1
c.525 + 1G > C splicing defects   No 1
c.525 + 1delG splicing defects   Yes 1
c.598C > G p.Arg200Gly 5 Yes 3
c.614 T > G p.Val205Gly 5 Yes 2
c.772 + 3_772 + 4dupAA unknown, splicing defects?   No 1
c.830C > G p.Thr277Arg 7 No 1
c.839A > G p.His280Arg 7 Yes 2
c.899 T > C p.Leu300Pro 7 No 1
c.926G > T p.Gly309Val 7 Yes 1
c.956G > T p.Gly319Val 7 No 1
c.969_970insA p.Pro324Thr fs*73 7 No 1
c.982C > T p.His328Tyr 7 Yes 1
c.982C > A p.His328Asn 7 No 1
c.994A > T p.Lys332* 7 Yes* 1
c.1044C > G p.Asp348Glu 7 No 1
c.1069C > T p.Gln357* 8 Yes 1
c.1120C > T p.Arg374Trp 8 Yes 1
c.1121G > A p.Arg374Gln 8 Yes 2
c.1132C > T p.Pro378Ser 8 Yes 1
c.1231C > T p.Arg411Trp 8 Yes 3
c.1232G > A p.Arg411Gln 8 Yes 4
c.1271C > T p.Pro424Leu 9 Yes 1
c.1327C > T p.Cys443Arg 9 No 1
c.1345C > G p.Pro449Ala 9 No 2
c.1412G > A p.Cys471Tyr 10 No 2
c.1435C > T p.Arg479* 10 Yes 7
c.1436G > A p.Arg479Gln 10 Yes 1
c.1451G > A p.Arg484Gln 10 Yes 3