NM_005876.5(SPEG):c.1301G>A (p.Arg434His)
|
rs924342297
|
0.00025
|
NM_005876.5(SPEG):c.4298G>A (p.Arg1433Gln)
|
rs200847303
|
0.00024
|
NM_005876.5(SPEG):c.206C>T (p.Thr69Met)
|
rs768017689
|
0.00016
|
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg)
|
rs200114716
|
0.00013
|
NM_005876.5(SPEG):c.4927C>T (p.Arg1643Cys)
|
rs570861370
|
0.00006
|
NM_005876.5(SPEG):c.5743A>C (p.Ser1915Arg)
|
rs199549168
|
0.00004
|
NM_005876.5(SPEG):c.5897G>C (p.Gly1966Ala)
|
rs759849782
|
0.00004
|
NM_005876.5(SPEG):c.418G>A (p.Asp140Asn)
|
rs202151661
|
0.00003
|
NM_001005361.3(DNM2):c.1552A>C (p.Ile518Leu)
|
rs753402698
|
0.00002
|
NM_139343.3(BIN1):c.1729C>G (p.Leu577Val)
|
rs771368114
|
0.00002
|
NM_001005361.3(DNM2):c.2411T>C (p.Phe804Ser)
|
rs1237677745
|
0.00001
|
NM_005876.5(SPEG):c.3134C>T (p.Thr1045Met)
|
rs62191886
|
0.00001
|
NM_005876.5(SPEG):c.4129G>A (p.Val1377Met)
|
rs1352203937
|
0.00001
|
NM_139343.3(BIN1):c.1696G>A (p.Val566Met)
|
rs761759946
|
0.00001
|
NM_139343.3(BIN1):c.527C>T (p.Ser176Leu)
|
rs776075897
|
0.00001
|
NM_000252.3(MTM1):c.1133G>T (p.Gly378Val)
|
rs2040150416
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)
|
rs587783772
|
|
NM_000252.3(MTM1):c.1468-2A>G
|
|
|
NM_000252.3(MTM1):c.1778C>A (p.Ser593Ter)
|
|
|
NM_000252.3(MTM1):c.342_342+4del
|
rs797045717
|
|
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs)
|
rs587783839
|
|
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)
|
rs132630305
|
|
NM_001005361.3(DNM2):c.1090C>T (p.Arg364Cys)
|
rs1568304333
|
|
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)
|
rs121909091
|
|
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)
|
rs587783595
|
|
NM_001005361.3(DNM2):c.4G>A (p.Gly2Ser)
|
rs2068817566
|
|
NM_001077525.3(MTMR14):c.199C>T (p.Arg67Ter)
|
rs754777692
|
|
NM_001378030.1(CCDC78):c.1134-19C>T
|
rs1320283995
|
|