NM_001256789.3(CACNA1F):c.148C>T (p.Arg50Ter)
|
rs886039560
|
0.00001
|
NM_001256789.3(CACNA1F):c.1504C>T (p.Arg502Ter)
|
rs1365490247
|
0.00001
|
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter)
|
rs886039559
|
0.00001
|
NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter)
|
rs797044676
|
0.00001
|
NM_001256789.3(CACNA1F):c.2543+1G>A
|
rs886044841
|
0.00001
|
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter)
|
rs782740998
|
0.00001
|
NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter)
|
rs782034481
|
0.00001
|
NM_005183.4(CACNA1F):c.2932C>T (p.Arg978Ter)
|
rs1557107966
|
0.00001
|
NC_000023.10:g.(?_49074194)_(49077559_?)del
|
|
|
NM_001256789.3(CACNA1F):c.1130dup (p.Glu378fs)
|
|
|
NM_001256789.3(CACNA1F):c.1171C>T (p.Gln391Ter)
|
|
|
NM_001256789.3(CACNA1F):c.1234G>T (p.Glu412Ter)
|
rs781837189
|
|
NM_001256789.3(CACNA1F):c.135del (p.Thr47fs)
|
|
|
NM_001256789.3(CACNA1F):c.1407_1408del (p.Glu469fs)
|
rs2147919032
|
|
NM_001256789.3(CACNA1F):c.1456_1457insCACAC (p.Arg486fs)
|
|
|
NM_001256789.3(CACNA1F):c.1624C>T (p.Gln542Ter)
|
|
|
NM_001256789.3(CACNA1F):c.1678_1681del (p.Leu560fs)
|
rs2147916854
|
|
NM_001256789.3(CACNA1F):c.1761C>A (p.Cys587Ter)
|
|
|
NM_001256789.3(CACNA1F):c.1955del (p.Leu652fs)
|
|
|
NM_001256789.3(CACNA1F):c.2038C>T (p.Arg680Ter)
|
rs782074040
|
|
NM_001256789.3(CACNA1F):c.2086-2A>C
|
|
|
NM_001256789.3(CACNA1F):c.2225T>G (p.Phe742Cys)
|
rs1602644716
|
|
NM_001256789.3(CACNA1F):c.2234T>C (p.Ile745Thr)
|
rs122456136
|
|
NM_001256789.3(CACNA1F):c.2416G>T (p.Glu806Ter)
|
rs2147910339
|
|
NM_001256789.3(CACNA1F):c.2533C>T (p.Gln845Ter)
|
rs2147910114
|
|
NM_001256789.3(CACNA1F):c.2616dup (p.Ser873fs)
|
rs2147909707
|
|
NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter)
|
rs122456134
|
|
NM_001256789.3(CACNA1F):c.2881C>T (p.Arg961Ter)
|
rs2065740868
|
|
NM_001256789.3(CACNA1F):c.2928+1G>A
|
rs2147908102
|
|
NM_001256789.3(CACNA1F):c.2998C>T (p.Gln1000Ter)
|
|
|
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg)
|
rs1249437161
|
|
NM_001256789.3(CACNA1F):c.3048C>A (p.Tyr1016Ter)
|
|
|
NM_001256789.3(CACNA1F):c.3088_3089+2del
|
|
|
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs)
|
rs80359870
|
|
NM_001256789.3(CACNA1F):c.3225del (p.Gly1076fs)
|
rs2147904608
|
|
NM_001256789.3(CACNA1F):c.3236+1G>A
|
rs1064797371
|
|
NM_001256789.3(CACNA1F):c.3371del (p.Phe1124fs)
|
|
|
NM_001256789.3(CACNA1F):c.3400G>T (p.Glu1134Ter)
|
rs138447882
|
|
NM_001256789.3(CACNA1F):c.3403C>T (p.Gln1135Ter)
|
|
|
NM_001256789.3(CACNA1F):c.3854del (p.Arg1285fs)
|
|
|
NM_001256789.3(CACNA1F):c.3862C>T (p.Arg1288Ter)
|
rs2065670611
|
|
NM_001256789.3(CACNA1F):c.3927del (p.Phe1309fs)
|
|
|
NM_001256789.3(CACNA1F):c.4260+1G>A
|
rs2147897025
|
|
NM_001256789.3(CACNA1F):c.4260+2del
|
rs2065655753
|
|
NM_001256789.3(CACNA1F):c.498_502del (p.Asp167fs)
|
|
|
NM_001256789.3(CACNA1F):c.5004_5005del (p.Leu1670fs)
|
rs1557105474
|
|
NM_001256789.3(CACNA1F):c.5187del (p.Gln1732fs)
|
rs2147891252
|
|
NM_001256789.3(CACNA1F):c.5198dup (p.Asn1733fs)
|
|
|
NM_001256789.3(CACNA1F):c.5299C>T (p.Gln1767Ter)
|
|
|
NM_001256789.3(CACNA1F):c.544C>T (p.Gln182Ter)
|
|
|
NM_001256789.3(CACNA1F):c.553G>T (p.Gly185Ter)
|
|
|
NM_001256789.3(CACNA1F):c.584dup (p.Pro197fs)
|
rs1557111077
|
|
NM_001256789.3(CACNA1F):c.693_699dup (p.Leu234fs)
|
|
|
NM_001256789.3(CACNA1F):c.823del (p.Glu275fs)
|
rs2147921791
|
|
NM_001256789.3(CACNA1F):c.850_853del (p.Ala284fs)
|
|
|
NM_001256789.3(CACNA1F):c.897C>A (p.Cys299Ter)
|
rs2065845144
|
|
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del)
|
rs1557110499
|
|
NM_005183.2(CACNA1F):c.276delG
|
rs886041479
|
|