NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)
|
rs138945081
|
0.00014
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
NM_000023.4(SGCA):c.614C>A (p.Pro205His)
|
rs757481230
|
0.00005
|
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln)
|
rs779439298
|
0.00003
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)
|
rs768814872
|
0.00003
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
NM_000023.4(SGCA):c.197T>A (p.Leu66His)
|
rs767928766
|
0.00002
|
NM_000023.4(SGCA):c.242G>A (p.Arg81His)
|
rs747984529
|
0.00002
|
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)
|
rs60407644
|
0.00001
|
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)
|
rs759692350
|
0.00001
|
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)
|
rs757888349
|
0.00001
|
NM_000023.4(SGCA):c.313-2A>G
|
rs1057516650
|
0.00001
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
NM_000023.4(SGCA):c.489del (p.Leu164fs)
|
rs753650776
|
0.00001
|
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg)
|
rs199810179
|
0.00001
|
NM_000023.4(SGCA):c.580G>T (p.Glu194Ter)
|
rs1057516664
|
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.957-11C>G
|
rs1391089933
|
0.00001
|
NM_000023.4(SGCA):c.-1_9del (p.Met1fs)
|
rs1057517107
|
|
NM_000023.4(SGCA):c.100C>A (p.Arg34Ser)
|
rs758647756
|
|
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)
|
|
|
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs)
|
rs1598277713
|
|
NM_000023.4(SGCA):c.1052del (p.Arg351fs)
|
|
|
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)
|
rs763372958
|
|
NM_000023.4(SGCA):c.119del (p.Leu40fs)
|
|
|
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs)
|
rs2144493427
|
|
NM_000023.4(SGCA):c.157+2T>G
|
|
|
NM_000023.4(SGCA):c.158-2A>G
|
rs1057516300
|
|
NM_000023.4(SGCA):c.163_164del (p.Pro55fs)
|
|
|
NM_000023.4(SGCA):c.183dup (p.Tyr62fs)
|
rs886044688
|
|
NM_000023.4(SGCA):c.186C>A (p.Tyr62Ter)
|
|
|
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)
|
rs766400853
|
|
NM_000023.4(SGCA):c.194A>C (p.His65Pro)
|
|
|
NM_000023.4(SGCA):c.209C>G (p.Pro70Arg)
|
rs1555568318
|
|
NM_000023.4(SGCA):c.20G>A (p.Trp7Ter)
|
|
|
NM_000023.4(SGCA):c.212A>T (p.Asp71Val)
|
|
|
NM_000023.4(SGCA):c.217C>T (p.Pro73Ser)
|
|
|
NM_000023.4(SGCA):c.220del (p.Arg74fs)
|
rs1555568325
|
|
NM_000023.4(SGCA):c.221G>C (p.Arg74Pro)
|
rs779439298
|
|
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe)
|
rs1555568335
|
|
NM_000023.4(SGCA):c.229dup (p.Arg77fs)
|
|
|
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs)
|
rs1567739339
|
|
NM_000023.4(SGCA):c.241C>A (p.Arg81Ser)
|
rs398123098
|
|
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)
|
rs398123098
|
|
NM_000023.4(SGCA):c.262_269dup (p.Gly91fs)
|
|
|
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.279_284del (p.Thr94_Pro95del)
|
rs1555568383
|
|
NM_000023.4(SGCA):c.290A>G (p.Asp97Gly)
|
rs1555568396
|
|
NM_000023.4(SGCA):c.296G>A (p.Gly99Glu)
|
|
|
NM_000023.4(SGCA):c.307A>T (p.Ile103Phe)
|
|
|
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)
|
rs1161291343
|
|
NM_000023.4(SGCA):c.312+1G>A
|
rs2144494642
|
|
NM_000023.4(SGCA):c.312+1G>C
|
rs2144494642
|
|
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
|
|
|
NM_000023.4(SGCA):c.329G>T (p.Arg110Leu)
|
|
|
NM_000023.4(SGCA):c.37+1G>A
|
|
|
NM_000023.4(SGCA):c.37+1G>C
|
rs111386656
|
|
NM_000023.4(SGCA):c.37+1G>T
|
|
|
NM_000023.4(SGCA):c.37+2C>G
|
rs112500642
|
|
NM_000023.4(SGCA):c.37+3A>T
|
|
|
NM_000023.4(SGCA):c.377dup (p.Asp126fs)
|
rs1905070544
|
|
NM_000023.4(SGCA):c.386-1G>A
|
|
|
NM_000023.4(SGCA):c.391dup (p.Leu131fs)
|
rs144356125
|
|
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)
|
rs780264754
|
|
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)
|
rs886043221
|
|
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)
|
rs372210292
|
|
NM_000023.4(SGCA):c.464del (p.Ser155fs)
|
rs1555568775
|
|
NM_000023.4(SGCA):c.472C>T (p.Leu158Phe)
|
rs2144496721
|
|
NM_000023.4(SGCA):c.480_481del (p.Leu161fs)
|
rs1057517142
|
|
NM_000023.4(SGCA):c.488_489delinsT (p.Gly163fs)
|
|
|
NM_000023.4(SGCA):c.488dup (p.Leu164fs)
|
rs763986788
|
|
NM_000023.4(SGCA):c.511C>T (p.Gln171Ter)
|
rs1057516242
|
|
NM_000023.4(SGCA):c.558_559del (p.Leu187fs)
|
|
|
NM_000023.4(SGCA):c.559del (p.Leu187fs)
|
rs1057516888
|
|
NM_000023.4(SGCA):c.582dup (p.Gly195fs)
|
|
|
NM_000023.4(SGCA):c.584+1G>A
|
rs2144497138
|
|
NM_000023.4(SGCA):c.584+1del
|
rs1555568876
|
|
NM_000023.4(SGCA):c.584+5G>A
|
|
|
NM_000023.4(SGCA):c.585-2A>T
|
rs1555568965
|
|
NM_000023.4(SGCA):c.586G>A (p.Val196Ile)
|
rs752695991
|
|
NM_000023.4(SGCA):c.596del (p.Lys199fs)
|
|
|
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.61_62insG (p.Thr21fs)
|
rs2144493097
|
|
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe)
|
rs750844090
|
|
NM_000023.4(SGCA):c.699C>G (p.Tyr233Ter)
|
|
|
NM_000023.4(SGCA):c.701del (p.Asp234fs)
|
|
|
NM_000023.4(SGCA):c.71del (p.Gln24fs)
|
|
|
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)
|
rs200166783
|
|
NM_000023.4(SGCA):c.725T>C (p.Val242Ala)
|
|
|
NM_000023.4(SGCA):c.747+1G>A
|
rs886043392
|
|
NM_000023.4(SGCA):c.747G>T (p.Leu249=)
|
rs2144498569
|
|
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)
|
rs1057517377
|
|
NM_000023.4(SGCA):c.755del (p.Lys252fs)
|
rs1057516548
|
|
NM_000023.4(SGCA):c.762del (p.Pro255fs)
|
|
|
NM_000023.4(SGCA):c.794del (p.Gly265fs)
|
|
|
NM_000023.4(SGCA):c.801dup (p.Ile268fs)
|
rs1905256830
|
|
NM_000023.4(SGCA):c.846_847delinsT (p.Asp283fs)
|
rs1057516729
|
|
NM_000023.4(SGCA):c.84_90del (p.His29fs)
|
|
|
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly)
|
rs137852623
|
|
NM_000023.4(SGCA):c.86A>T (p.His29Leu)
|
rs1387802849
|
|
NM_000023.4(SGCA):c.88C>T (p.Pro30Ser)
|
rs1327595249
|
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
|
NM_000023.4(SGCA):c.949G>T (p.Glu317Ter)
|
rs1555569339
|
|
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.960_961insTC (p.Lys321fs)
|
|
|
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs)
|
rs796065318
|
|
NM_001135697.3(SGCA):c.584+521del
|
rs1220674950
|
|