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Table 2 Pathogenetic variants found in our cohort

From: Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies

Patient

Nucleotide change

Aminoacid change

1

c.99_105delGGCTGTT

p.Glu33Aspfs*9

2

c.98_103delAGGCTG + Exon 4 deleted

p.33_34delGluAla + p.?

3

c.205 C>T

p.Arg69Cys

4

c.139_141delAAA

p.Lys47del

5

c.564_566delTAA

p.Asn189del

6

c.139_141delAAA

p.Lys47del

7

c.721 C>T

p.Arg241Cys

8

c.1138delG

p.Asp380Thrfs*6

9

Exon 1–9 deleted

p.?

10

c.664 C>T

p.Arg222*

11

c.1261-5T>G

p.Arg421_Gln451del + p.Arg421Serfs*7

12

c.554T>A

p.Ile185Lys

  1. In this table are summarized the genomic variants and aminoacid changes found in our patients