Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study

Table 2

The SLC25A13 ASVs detected by cDNA analysis in the NICCD patient.

Clones	Alternative splicing variants (ASVs)	Annotations
C0282-1	r.213_468del; r.1194A>G	Exons 4 and 5 skipping
C0282-2	r.70_468del; r.1194A>G	Exons 3, 4, and 5 skipping
C0282-3	r.70_468del; r.1194A>G	Exons 3, 4, and 5 skipping
C0282-4	r.213_468del; 1311_1312ins1311+102_1312+176; r.1194A>G	Exons 4 and 5 skipping
C0282-5	r.213_468del; r.616_848del; r.1194A>G	Exons 4, 5, 7, and 8 skipping
C0282-6	r.70_468del; r.1194A>G	Exons 3, 4, and 5 skipping
C0282-7	r.329_468del; r.1194A>G	Exon 5 skipping
C0282-8	r.213_468del; r.755_848del; r.1194A>G	Exons 4, 5, and 8 skipping
C0282-9	r.329_468del; r.1194A>G	Exon 5 skipping
C0282-10	r.70_468del; r.1194A>G	Exons 3, 4, and 5 skipping
C0282-11	r.70_468del; r.1194A>G	Exons 3, 4, and 5 skipping
C0282-12	r.213_468del; 1311_1312ins1311+102_1312+176; r.1194A>G	Exons 4 and 5 skipping
C0282-13	r.213_468del; r.993_1018del; r.1194A>G	Exons 4 and 5 skipping
C0282-14	r.213_468del; r.1194A>G	Exons 4 and 5 skipping
C0282-15	r.213_468del; r.1194A>G	Exons 4 and 5 skipping
C0282-16	r.70_468del; r.1194A>G	Exons 3, 4, and 5 skipping
C0282-17	r.213_468del; r.755_848del; r.1194A>G	Exons 4, 5, and 8 skipping
C0282-18	r.213_468del; r.1194A>G	Exons 4 and 5 skipping
C0282-19	r.70_468del; r.1194A>G	Exons 3, 4, and 5 skipping
C0282-20	r.213_468del; 1311_1312ins1311+102_1312+176; r.1194A>G	Exons 4 and 5 skipping
C0282-21	r.213_468del; r.1194A>G	Exons 4 and 5 skipping
C0282-22	r.213_468del; r.755_848del; r.1194A>G	Exons 4, 5, and 8 skipping
C0282-23	r.213_468del; r.755_848del; r.1194A>G	Exons 4, 5, and 8 skipping
C0282-24	r.213_468del; r.1194A>G	Exons 4 and 5 skipping
C0282-25	r.213_468del; r.1194A>G	Exons 4 and 5 skipping
C0282-26	r.213_468del; 1311_1312ins1311+102_1312+176; r.1194A>G	Exons 4 and 5 skipping

The ASVs in this table were described according to the nomenclature guidelines [26, 27]; nucleotide numbering was based on cDNA sequence (GenBank: NM_014251), with +1 indicating the A of the ATG-translation initiation codon.