Table IC.

Details of probable mutations in the CRISP cohort: Likely, mutation group C

CRISP IDbncExon/IntronCodonMutation DesignationcDNA ChangeProtein ChangeVariant EffectOtherd Indeterminate VariantsPrevious Description
PKD1
    1505341151870N1870H5608A→CN1870HSubstitutionNovel
    1701211151999G1999S5995G→AG1999SSubstitutionNovel
    2941051151999G1999V5996G→TG1999VSubstitutionR3965SNovel
    2459901152278G2278R6832G→AG2278RSubstitutionNovel
    3201821152297H2297P6890A→CH2297PSubstitutionNovel
    3432331232866L2866P8597C→TL2866PSubstitutionNovel
    2000042253007S3007P9019T→CS3007PSubstitutionNovel
    3801661273168F3168L9504C→GF3168LSubstitutionNovel
    2000032273171A3171P9511G→CA3171PSubstitutionNovel
    1130941363604E3604K10810G→TE3604KSubstitutionNovel
    1175371373651G3651S10951G→AG3651SSubstitutionNovel
    2294281454137L4137P12410T→CL4137PSubstitutionNovel
    1480141454139L4139P12416C→TL4139PSubstitutionR807QNovel
PKD2
    45703615378S378del1131_1133delS378delDeletionR1698WNovel
    419258113804S804N2411G→AS804NSubstitutionNovel
    479334114878R878del2632_2634delR878delDeletionR4276WNovel
  • a CRISP, Consortium for Radiologic Imaging Study of PKD.

  • b Patient or pedigree number.

  • c Number of patients from family in CRISP study.

  • d Other indeterminate variant (variant group I) found in the proband. PKD2 change in italics.

  • e Predicted change.

  • f Details of previous description in Human Gene Mutation Database (HGMD) and/or ADPKD Mutation Database (PKDB).

  • g Same family as published.