Table 3. Polymorphisms in PKHD1

Nucleotide ChangeORF ChangeExonFrequency in ControlsNucleotide ChangeFrequency in Controls
a Naming conventions and exon numbering as in Table 1.
Amino acid substitution polymorphismsaIntronic polymorphisms
    1371G→ CE457D1612/120    IVS3 −36C→ G1/120
    2194G→ TV732F221/120    IVS7 +19T→ C5/120
    2278C→ TR760C227/320    IVS7 +51G→ T1/320
    3448G→ CA1150P301/120    IVS8 +67G→ A1/120
    3848C→ TS1283L322/120    IVS11 −8delT4/120
    5608T→ GL1870V351/120    IVS15 −10T→ A1/120
    7844C→ GA2615G49 (50)22/320    IVS16 −5C→ T1/120
    8606C→ AT2869K55 (56)4/120    IVS18 −33C→ G1/120
    9415G→ TD3139Y58 (59)8/320    IVS32 +14A→ G5/120
    9428G→ TR3143I58 (59)1/320    IVS32 −32G→ A3/320
    10319T→ AV3440D61 (65)3/120    IVS35 −42T→ G5/320
    10651G→ AE3551K61 (65)4/120    IVS38 (38) −7insC7/320
    11696A→ GQ3899R66 (70)18/320    IVS47 (48) −4T→ C4/320
    11878G→ AV3960I67 (71)3/320    IVS51 (52) +12T→ A21/320
Silent changes in exons    IVS52 (53) −32G→ C2/120
    Detected in patients, not in controls    IVS53 (54) −54G→ T4/320
        888A→ T120/120    IVS54 (55) −73C→ T9/320
        1314G→ A160/120    IVS54 (55) −24A→ G4/320
        3393G→ A300/120    IVS55 (56) −32insC7/320
        5199C→ A320/120    IVS55 (56) −19A→ C1/60
        6975C→ T43 (44)0/120    IVS55 (56) +44A→ C5/160
        7533A→ G48 (49)0/120    IVS56 (57) +62G→ A11/160
        10299G→ A61 (65)0/320    IVS56 (57) +44A→ C2/60
        10968A→ G61 (65)0/320    IVS58 (59) +10T→ G6/160
    Detected in patients and controls    IVS61 (64) +48insG5/160
        214C→ T44/120
        237C→ T41/120
        276G→ A41/120
        1587T→ C171/120
        2046A→ C217/120
        2214T→ G221/120
        2278C→ T223/320
        4920A→ C321/320
        5896C→ T363/120
        7587A→ G48 (49)1/120
        7764A→ G49 (50)5/120
        9237G→ A58 (49)3/320
        9492C→ T58 (49)1/320
        10521C→ T61 (65)2/320
        11340T→ C63 (67)5/320