NM_001378030.1(CCDC78):c.61-1G>A
|
rs1006891646
|
0.00002
|
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)
|
rs121909090
|
0.00001
|
NM_016653.3(MAP3K20):c.490_491del (p.Met164fs)
|
rs1293675104
|
0.00001
|
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys)
|
rs777176261
|
0.00001
|
NM_000252.3(MTM1):c.1190A>G (p.Tyr397Cys)
|
rs132630303
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000252.3(MTM1):c.141_144del
|
rs587783791
|
|
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)
|
rs132630304
|
|
NM_000252.3(MTM1):c.469G>A (p.Glu157Lys)
|
rs132630307
|
|
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser)
|
rs132630302
|
|
NM_000252.3(MTM1):c.605del (p.Leu202fs)
|
rs672601325
|
|
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)
|
rs132630306
|
|
NM_000252.3(MTM1):c.679-1G>A
|
rs672601324
|
|
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)
|
rs132630305
|
|
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)
|
rs121909092
|
|
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)
|
rs121909089
|
|
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)
|
rs121909091
|
|
NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp)
|
rs121909095
|
|
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)
|
rs121909095
|
|
NM_005876.5(SPEG):c.2915_2916delinsA (p.Ala972fs)
|
rs587777675
|
|
NM_005876.5(SPEG):c.3709_3715+29del
|
rs587777674
|
|
NM_005876.5(SPEG):c.4276C>T (p.Arg1426Ter)
|
rs587777673
|
|
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter)
|
rs587777672
|
|
NM_005876.5(SPEG):c.8270G>T (p.Gly2757Val)
|
rs587777676
|
|
NM_016653.3(MAP3K20):c.282dup (p.Asn95Ter)
|
rs1553576774
|
|
NM_016653.3(MAP3K20):c.515G>A (p.Trp172Ter)
|
rs1553578407
|
|
NM_139343.3(BIN1):c.105G>T (p.Lys35Asn)
|
rs121909273
|
|
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter)
|
rs121909275
|
|
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys)
|
rs1249621033
|
|
NM_139343.3(BIN1):c.451G>A (p.Asp151Asn)
|
rs121909274
|
|
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln)
|
rs267606681
|
|