NM_020485(RHCE):c.203A=
NM_016176:c.-583A>C
NM_000518(HBB):c.399A>Y
NM_002290(LAMA4):c.827_828AC=
NM_022114(PRDM16):c.884+9_884+39del31
NM_080605(B3GALT6):c.323_344del22
NM_080605(B3GALT6):c.323_344del22
NM_016176:c.-984_-976del
NM_007298:c.788-1374_788-1365del10
NM_001110792(MECP2):c.1121_1224del104insAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCC
NM_000492(CFTR):c.4_53+69del119ins299
NM_080605(B3GALT6):c.353delA
NM_006172(NPPA):c.456_*1delAA
NM_000059(BRCA2):c.5201_5205delAAAAAins6
NM_007294(BRCA1):c.1387_1390delAAAAinsGAAAG
NM_000267(NF1):c.4368-391_4515-122delins105
NM_014915(ANKRD26):c.1269+7_1269+12delinsA
NM_000267(NF1):c.2410-110_2850+65delinsAAAA
NM_007262(PARK7):c.-24+75_-24+92dup
NM_001277115(DNAH11):c.13473_*75dup154
NM_000179(MSH6):c.1573_3439-429dupinsTAT
NM_139058(ARX):c.304_305ins21
NM_000059(BRCA2):c.48_50delGACins10
NM_001048173:c.248_249insA
NM_005373(MPL):c.1543_1544delTGinsAA
NM_003981(PRC1):c.1351-124_1351-123insoAC068831.17:g.63209_63266
NM_003981(PRC1):c.1351-124_1351-123insAC068831.17:g.63209_63266
NM_000251(MSH2):c.1277-?_*(272_?)inv
NM_000251(MSH2):c.1311_1334del24insNM_000251.1:c.1338_1361inv24
NM_002863(PYGL):c.1964_1969invAAAAAG
NM_014813(LRIG2):c.1980_1981insJX891452.1:g.1_371
NM_020533(MCOLN1):c.236_237insNC_012920.1:m.12435_12527
NM_001033952(CALCA):c.*727_*730T[4]
NM_024312(GNPTAB):c.1738_1741[3]
NM_001039958(MESP2):c.535_546[(2_4)]
NM_014740(EIF4A3):c.-98_-81del18insTCGGCAGCGGCACAGCGAGG[10]
NM_000095(COMP):c.1405_1407GAC[7]
NM_000100(CSTB):c.-210_-199(30_125)
NM_002111.6(HTT):c.52_54(?_25)
NM_000100(CSTB):c.-210CCCCGCCCCGCG(2_3)
NM_001081560(DMPK):c.*224_*226CTG(51_?)