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 |