NM_000023.4(SGCA):c.221G>A (p.Arg74Gln)
|
rs779439298
|
0.00003
|
NM_000023.4(SGCA):c.242G>A (p.Arg81His)
|
rs747984529
|
0.00002
|
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)
|
rs759692350
|
0.00001
|
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg)
|
rs199810179
|
0.00001
|
NM_000023.4(SGCA):c.585-1G>A
|
rs1342189589
|
0.00001
|
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)
|
rs748936034
|
0.00001
|
NM_000023.4(SGCA):c.748-2A>T
|
rs1412537279
|
0.00001
|
NM_000023.4(SGCA):c.851G>A (p.Arg284His)
|
rs369359375
|
0.00001
|
NM_000023.4(SGCA):c.100C>A (p.Arg34Ser)
|
rs758647756
|
|
NM_000023.4(SGCA):c.217C>T (p.Pro73Ser)
|
|
|
NM_000023.4(SGCA):c.221G>C (p.Arg74Pro)
|
rs779439298
|
|
NM_000023.4(SGCA):c.241C>A (p.Arg81Ser)
|
rs398123098
|
|
NM_000023.4(SGCA):c.269A>G (p.Tyr90Cys)
|
|
|
NM_000023.4(SGCA):c.271G>A (p.Gly91Ser)
|
|
|
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys)
|
rs890921874
|
|
NM_000023.4(SGCA):c.296G>A (p.Gly99Glu)
|
|
|
NM_000023.4(SGCA):c.307A>T (p.Ile103Phe)
|
|
|
NM_000023.4(SGCA):c.312+1G>A
|
rs2144494642
|
|
NM_000023.4(SGCA):c.312+1G>C
|
rs2144494642
|
|
NM_000023.4(SGCA):c.329G>T (p.Arg110Leu)
|
|
|
NM_000023.4(SGCA):c.37+1G>C
|
rs111386656
|
|
NM_000023.4(SGCA):c.37+1G>T
|
|
|
NM_000023.4(SGCA):c.472C>T (p.Leu158Phe)
|
rs2144496721
|
|
NM_000023.4(SGCA):c.584+1G>A
|
rs2144497138
|
|
NM_000023.4(SGCA):c.586G>A (p.Val196Ile)
|
rs752695991
|
|
NM_000023.4(SGCA):c.601G>A (p.Gly201Ser)
|
rs2144498121
|
|
NM_000023.4(SGCA):c.602G>A (p.Gly201Asp)
|
rs2144498132
|
|
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)
|
rs757481230
|
|
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe)
|
rs750844090
|
|
NM_000023.4(SGCA):c.747+1G>A
|
rs886043392
|
|
NM_000023.4(SGCA):c.747G>T (p.Leu249=)
|
rs2144498569
|
|
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly)
|
rs137852623
|
|
NM_000023.4(SGCA):c.88C>T (p.Pro30Ser)
|
rs1327595249
|
|
NM_000023.4(SGCA):c.956+1G>A
|
|
|
NM_000023.4(SGCA):c.956+2_956+19del
|
rs1555569342
|
|
NM_000023.4(SGCA):c.957-1G>T
|
rs2144502043
|
|
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs)
|
rs796065318
|
|