Table 2

 Truncating variants

Variant typeExoncDNA nucleotidegDNA nucleotideVariantStop codonVariant detectionReference*
cDNA levelProtein level
Nomenclature of PKHD1 sequence variants was based upon the PKHD1 mRNA sequence (GenBank accession no. AF4800064) with the A of the start codon designated as nucleotide 1. PKHD1 exons and genomic DNA (gDNA) nucleotide numbers (GenBank accession no. AY129465) were included for clarification of variant location.
*Numbers indicate the following: 1current study, 2Bergmann et al,203Bergmann et al,134Furu et al,155Onuchic et al,56Rossetti et al,147Ward et al.6
Frameshift53537635c.353delGp.S118fs1521/1501, 2
1171118048c.711_714delAATGp.M238fs2441/1501, 5
20185433424c.1854delAp.G619fs6211/150Novel1
22218037316c.2180dupAp.N727fs7981/150Novel1
24252041496c.2520_2526del7p.Y841fs8711/150Novel1
30352859384c.3528dupCp.S1177fs11891/200Novel1
32376161523c.3761_3762delCCinsGp.A1254fs130210/150 (9)1, 2, 3, 4, 5, 6
32441562177c.4415_4418del4insp.C1472fs15071/150Novel1
TATTCCCCTCT
34558270144c.5582delTp.F1861fs19731/150Novel1
365895127730c.5895dupAp.L1966fs19696/150 (6)1, 2, 3, 4, 5, 6, 7
406383175707c.6383delTp.L2128fs21281/1501, 6
416653178301c.6653_6660dupp.T2221fs22291/150Novel1
528114251150c.8114delGp.G2705fs27151/150Novel1
588829334291c.8829dupCp.I2944fs29491/1501, 4, 5
599689339686c.9689delAp.D3230fs326311/150 (8)1,2, 6
6510637428124c.10637delTp.V3546fs35671/1501, 7
Nonsense53707652c.370 C→Tp.R124X1241/150Novel1
15121227623c.1212 G→Ap.W404X4041/150Novel1
19177431923c.1774 C→Tp.R592X5921/150Novel1
23234139014c.2341 C→Tp.R781X7812/150Novel1
32384861610c.3848 C→Ap.S1283X12831/150Novel1
6911524454907c.11524 C→Tp.R3842X38421/150Novel1
In-frame15115927570c.1159_1161delAATp.N387del40731/1501, 4
deletion