COCH, GJB2, GJB6, MYO7A, OTOA, SLC26A4, STRC, TECTA
ACTG1, COCH, GJB2, KCNQ4, MYH14, MYH9, TECTA, TMC1, WFS1
CCDC50, COL11A2, CRYM, DFNA5, DIAPH1, EYA4, MYO6, MYO7A, POU3F4, PRPS1, SIX1
GJB2, MYO15A, MYO7A, OTOF, SLC26A4, STRC, TMC1
BSND, CDH23, CIB2, DFNB31, GJB3, GJB6, GPSM2, ILDR1, MYO6, OTOA, PCDH15, PRPS1, TECTA, TMC1, TMPRSS3, TPRN, USH1C, USH2A
COL4A6, POU3F4, PRPS1
MT-RNR1, MT-TS1
CHSY1
SLC19A2
ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, TGFBR2
Faktor V-Leiden: F5 - p.(Arg534Gln), Prothrombin-Gen: F2 - c.*97G>A in 3’UTR
ACE - Ins/Del-Polymorphismus, Faktor 13 - p.(Val35Leu), Faktor 5 (Cambridge) - p.(Arg334Thr), Faktor 5 (HR2) - p.(His1327Arg), Methyltetrahydrofolat-Reduktase: MTHFR - p.(Ala222Val), SERPINE1: PAI1 - 4G/5G-Polymorphismus
TTR
POLR1C, POLR1D, TCOF1
MLPA 8q24, TRPS1
ASXL1, CBL, CSF3R, DNMT3A, EZH2, IDH1, IDH2, KIT, SF3B1, SRSF2, TET2, TP53, U2AF1
(bei auffälliger Familienanamnese, nach Rücksprache)
TSC1, TSC2
