phenotype of the patient | mutation 1 | mutation 2 | genotype of the patient |
---|---|---|---|
perinatal | p.Gln32* (c.94C > T) | c.648 + 1G > A | compound heterozygous |
perinatal | p.Arg223Trp (c.667C > T) | p.Arg391Cys (c.1171C > T) | compound heterozygous |
perinatal | p.Arg223Trp (c.667C > T) | p.Tyr441* (c.1323C > A) | compound heterozygous |
perinatal | p.Ala433Gly (c.1328C > G) | p.Ala433Gly (c.1328C > G) | homozygous |
infantile | p.Ala33Val (c.98C > T) | p.Ala40Val (c.119C > T) | compound heterozygous |
infantile | p.Arg71Cys (c.211C > T) | p.Glu191Lys (c.571G > A) | compound heterozygous |
infantile | p.Arg71Cys (c.211C > T) | p.Glu191Lys (c.571G > A) | compound heterozygous |
infantile | p.Arg71His (c.212G > A) | p.Glu191Lys (c.571G > A) | compound heterozygous |
infantile | p.Arg71His (c.212G > A) | p.Glu191Lys (c.571G > A) | compound heterozygous |
infantile | p.Thr100Met (c.299C > T) | p.Glu191Lys (c.571G > A) | compound heterozygous |
infantile | p.Thr141Ile (c.422C > T) | p.Arg428Pro (c.1283G > C) | compound heterozygous |
infantile | p.Ala176Thr (c.526G > A) | p.Gly221Arg (c.661G > C) | compound heterozygous |
infantile | p.Ala176Thr (c.526G > A) | p.Arg391Valfs (c.1117del) | compound heterozygous |
infantile | p.Ala176Thr (c.526G > A) | p.Gly334Asp (c.1001G > A) | compound heterozygous |
infantile | p.Ala177Thr (c.529G > A) | p.Arg223Trp (c.667C > T) | compound heterozygous |
infantile | p.Glu191Lys (c.571G > A) | p.Gly334Asp (c.1001G > A) | compound heterozygous |
infantile | p.Glu191Lys (c.571G > A) | p.Gly334Asp (c.1001G > A) | compound heterozygous |
infantile | p.Glu191Lys (c.571G > A) | p.Gly456Arg (c.1366G > A) | compound heterozygous |
infantile | p.Arg223Trp (c.667C > T) | p.Gly249Val (c. 746G > T) | compound heterozygous |
infantile | c.793-14_33del | c.793-14_33del | homozygous |
infantile | p.Arg391His (c.1172G > A) | heterozygous | |
childhood | p.Thre68Met (c.203C > T) | p.Ala177Thr (c.529G > A) | compound heterozygous |
childhood | p.Thre68Met (c.203C > T) | p.Glu191Lys (c.571G > A) | compound heterozygous |
childhood | p.Tyr117Cys (c.350A > G) | p.Tyr236* (c.708 T > G) | compound heterozygous |
childhood | p.Ala176Thr (c.526G > A) | p.Arg428* (c.1282C > T) | compound heterozygous |
childhood | p.Ala177Thr (c.529G > A) | p.Leu275Pro (c.824 T > C) | compound heterozygous |
childhood | p.Glu191Lys (c.571G > A) | p.Phe328del (c.984-986delCTT) | compound heterozygous |
childhood | p.Glu191Lys (c.571G > A) | p.Gly334Asp (c.1001G > A) | compound heterozygous |
childhood | p.Glu191Lys (c.571G > A) | p.Gly334Asp (c.1001G > A) | compound heterozygous |
childhood | p.Glu191Lys (c.571G > A) | p.Gly334Asp (c.1001G > A) | compound heterozygous |
childhood | p.Glu191Lys (c.571G > A) | p.Gly334Asp (c.1001G > A) | compound heterozygous |
childhood | p.Glu191Lys (c.571G > A) | p.Gly334Asp (c.1001G > A) | compound heterozygous |
childhood | p.Glu191Lys (c.571G > A) | p.Ala377Val (c.1130C > T) | compound heterozygous |
childhood | p.Glu191Lys (c.571G > A) | p.Ala377Val (c.1130C > T) | compound heterozygous |
childhood | p.Arg136His (c.407G > A) | heterozygous | |
childhood | p.Arg136His (c.407G > A) | heterozygous | |
childhood | p.Pro292Thr (c.874C > A) | heterozygous | |
childhood | p.Pro292Thr (c.874C > A) | heterozygous | |
childhood | p.Arg71Ser (c.211C > A) | heterozygous | |
childhood | p.Ala111Thr (c.331G > A) | heterozygous | |
childhood | p.Glu191Lys (c.571G > A) | heterozygous | |
childhood | p.Arg272Cys (c.817C > T) | heterozygous | |
childhood | p.Met295Thr (c.884 T > C)) | heterozygous | |
childhood | p.Arg391Cys (c.1171C > T) | heterozygous | |
childhood | p.Arg391Cys (c.1171C > T) | heterozygous | |
childhood | p.Arg391Cys (c.1171C > T) | heterozygous | |
childhood | p.Asn417Ser (c.1250A > G) | heterozygous | |
childhood | p.Arg71Ser (c.211C > A) | heterozygous | |
childhood | n.k. | n.k. | n.k. |
childhood | n.k. | n.k. | n.k. |