NM_006306.4(SMC1A):c.855-15C>T
|
rs147791932
|
0.00326
|
NM_006306.4(SMC1A):c.1254+11G>C
|
rs144354524
|
0.00258
|
NM_006306.4(SMC1A):c.1545+4A>C
|
rs377270943
|
0.00129
|
NM_006306.4(SMC1A):c.*2609A>C
|
rs192734396
|
0.00092
|
NM_006306.4(SMC1A):c.*2435T>G
|
rs782650092
|
0.00062
|
NM_006306.4(SMC1A):c.*488A>G
|
rs956422392
|
0.00061
|
NM_006306.4(SMC1A):c.*4382A>G
|
rs906340789
|
0.00055
|
NM_006306.4(SMC1A):c.*4443G>A
|
rs782630117
|
0.00050
|
NM_006306.4(SMC1A):c.*5355G>A
|
rs782143840
|
0.00050
|
NM_006306.4(SMC1A):c.*2948G>T
|
rs183355603
|
0.00049
|
NM_006306.4(SMC1A):c.*5489G>T
|
rs1007398058
|
0.00040
|
NM_006306.4(SMC1A):c.*1961C>T
|
rs986586627
|
0.00036
|
NM_006306.4(SMC1A):c.*578C>T
|
rs782042924
|
0.00028
|
NM_006306.4(SMC1A):c.*5946C>T
|
rs972532010
|
0.00021
|
NM_006306.4(SMC1A):c.*3777C>G
|
rs41315082
|
0.00013
|
NM_006306.4(SMC1A):c.*381A>G
|
rs184957599
|
0.00011
|
NM_006306.4(SMC1A):c.*1914A>G
|
rs964056946
|
0.00010
|
NM_006306.4(SMC1A):c.*3025C>T
|
rs782139355
|
0.00010
|
NM_006306.4(SMC1A):c.*1040G>A
|
rs79382603
|
0.00005
|
NM_006306.4(SMC1A):c.*2050T>C
|
rs1057515964
|
0.00005
|
NM_006306.4(SMC1A):c.*2225G>A
|
rs1047323522
|
0.00005
|
NM_006306.4(SMC1A):c.*4998T>C
|
rs899071356
|
0.00005
|
NM_006306.4(SMC1A):c.*2663C>T
|
rs1057515961
|
0.00004
|
NM_006306.4(SMC1A):c.*4156A>G
|
rs999754790
|
0.00004
|
NM_006306.4(SMC1A):c.*703G>T
|
rs189126241
|
0.00004
|
NM_006306.4(SMC1A):c.3186C>G (p.Ile1062Met)
|
rs372307204
|
0.00004
|
NM_006306.4(SMC1A):c.458C>T (p.Ala153Val)
|
rs1171109209
|
0.00004
|
NM_006306.4(SMC1A):c.*4087G>A
|
rs1057515957
|
0.00003
|
NM_006306.4(SMC1A):c.*4581T>C
|
rs1057515955
|
0.00003
|
NM_006306.4(SMC1A):c.*675A>G
|
rs1415804526
|
0.00003
|
NM_006306.4(SMC1A):c.2600T>C (p.Met867Thr)
|
rs1034852654
|
0.00003
|
NM_006306.4(SMC1A):c.*1934T>C
|
rs1311438037
|
0.00002
|
NM_006306.4(SMC1A):c.*3484G>A
|
rs1215730078
|
0.00002
|
NM_006306.4(SMC1A):c.*4367T>C
|
rs1003358509
|
0.00002
|
NM_006306.4(SMC1A):c.*5197T>C
|
rs782050365
|
0.00002
|
NM_006306.4(SMC1A):c.-1C>T
|
rs797044618
|
0.00002
|
NM_006306.4(SMC1A):c.-7G>A
|
rs1368401429
|
0.00002
|
NM_006306.4(SMC1A):c.1254+4G>A
|
rs781824288
|
0.00002
|
NM_006306.4(SMC1A):c.1545+5G>A
|
rs113714434
|
0.00002
|
NM_006306.4(SMC1A):c.2645C>T (p.Ser882Leu)
|
rs376589639
|
0.00002
|
NM_006306.4(SMC1A):c.2792A>G (p.Gln931Arg)
|
rs782728089
|
0.00002
|
NM_006306.4(SMC1A):c.*2086T>C
|
rs1173339282
|
0.00001
|
NM_006306.4(SMC1A):c.*3596C>T
|
rs2075560234
|
0.00001
|
NM_006306.4(SMC1A):c.*3671C>T
|
rs1057515959
|
0.00001
|
NM_006306.4(SMC1A):c.*41G>A
|
rs782548345
|
0.00001
|
NM_006306.4(SMC1A):c.*5251G>T
|
rs188308804
|
0.00001
|
NM_006306.4(SMC1A):c.*5451A>G
|
rs782308559
|
0.00001
|
NM_006306.4(SMC1A):c.*5692G>A
|
rs1057515952
|
0.00001
|
NM_006306.4(SMC1A):c.*5855G>T
|
rs1289923605
|
0.00001
|
NM_006306.4(SMC1A):c.1254+5G>A
|
rs1569358589
|
0.00001
|
NM_006306.4(SMC1A):c.1403G>A (p.Arg468Gln)
|
rs1556890153
|
0.00001
|
NM_006306.4(SMC1A):c.1911+7A>G
|
rs2075687773
|
0.00001
|
NM_006306.4(SMC1A):c.1917G>A (p.Val639=)
|
rs782292864
|
0.00001
|
NM_006306.4(SMC1A):c.2345G>A (p.Arg782Gln)
|
rs782733394
|
0.00001
|
NM_006306.4(SMC1A):c.2738C>T (p.Thr913Ile)
|
rs1569355048
|
0.00001
|
NM_006306.4(SMC1A):c.285C>G (p.Ala95=)
|
rs587784414
|
0.00001
|
NM_006306.4(SMC1A):c.2862+4A>C
|
rs1445281439
|
0.00001
|
NM_006306.4(SMC1A):c.2867G>T (p.Ser956Ile)
|
rs1556887779
|
0.00001
|
NM_006306.4(SMC1A):c.2908T>A (p.Ser970Thr)
|
rs1239033094
|
0.00001
|
NM_006306.4(SMC1A):c.3252C>T (p.Ile1084=)
|
rs587784417
|
0.00001
|
NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile)
|
rs782084021
|
0.00001
|
NM_006306.4(SMC1A):c.3611A>T (p.Tyr1204Phe)
|
rs781998306
|
0.00001
|
NM_006306.4(SMC1A):c.386A>G (p.Lys129Arg)
|
rs1223252947
|
0.00001
|
NM_006306.4(SMC1A):c.392G>A (p.Arg131His)
|
rs781903928
|
0.00001
|
NM_006306.4(SMC1A):c.494C>T (p.Ala165Val)
|
rs1556890833
|
0.00001
|
NM_006306.4(SMC1A):c.716A>G (p.Asn239Ser)
|
rs782172948
|
0.00001
|
NM_006306.4(SMC1A):c.763C>T (p.Arg255Cys)
|
rs782209409
|
0.00001
|
NM_006306.4(SMC1A):c.823C>T (p.Arg275Trp)
|
rs781812690
|
0.00001
|
NC_000023.10:g.(?_53276131)_(53449569_?)dup
|
|
|
NC_000023.10:g.(?_53349595)_(53410194_?)dup
|
|
|
NC_000023.10:g.(?_53349605)_(53410184_?)dup
|
|
|
NC_000023.10:g.(?_53349615)_(53410174_?)dup
|
|
|
NC_000023.10:g.(?_53407004)_(53449569_?)dup
|
|
|
NC_000023.10:g.(?_53421678)_(53449569_?)dup
|
|
|
NC_000023.10:g.(?_53421698)_(53421808_?)del
|
|
|
NC_000023.10:g.(?_53423127)_(53572142_?)dup
|
|
|
NM_001281463.1(SMC1A):c.-275G>T
|
rs1026058160
|
|
NM_006306.4(SMC1A):c.*1028C>T
|
rs1057515967
|
|
NM_006306.4(SMC1A):c.*1240A>G
|
rs1057515966
|
|
NM_006306.4(SMC1A):c.*1559G>A
|
rs782736361
|
|
NM_006306.4(SMC1A):c.*1967C>T
|
rs2075567451
|
|
NM_006306.4(SMC1A):c.*2490T>C
|
rs1057515962
|
|
NM_006306.4(SMC1A):c.*2936C>T
|
rs782494133
|
|
NM_006306.4(SMC1A):c.*3305A>G
|
rs1057515960
|
|
NM_006306.4(SMC1A):c.*3392T>C
|
rs2075561045
|
|
NM_006306.4(SMC1A):c.*3807G>A
|
rs1057515958
|
|
NM_006306.4(SMC1A):c.*5051G>T
|
rs2075555081
|
|
NM_006306.4(SMC1A):c.*5352C>T
|
rs1057515953
|
|
NM_006306.4(SMC1A):c.*5443C>G
|
rs375348750
|
|
NM_006306.4(SMC1A):c.*5506A>T
|
rs2075553176
|
|
NM_006306.4(SMC1A):c.*5722A>T
|
rs2075552232
|
|
NM_006306.4(SMC1A):c.*5853A>G
|
rs2075551728
|
|
NM_006306.4(SMC1A):c.*5915T>C
|
rs1057515951
|
|
NM_006306.4(SMC1A):c.*626A>G
|
rs1057515970
|
|
NM_006306.4(SMC1A):c.*665A>G
|
rs1057515969
|
|
NM_006306.4(SMC1A):c.1014G>C (p.Lys338Asn)
|
|
|
NM_006306.4(SMC1A):c.1114-3C>T
|
|
|
NM_006306.4(SMC1A):c.1130G>A (p.Arg377Gln)
|
|
|
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del)
|
rs797045991
|
|
NM_006306.4(SMC1A):c.1149C>G (p.Ser383Arg)
|
|
|
NM_006306.4(SMC1A):c.1150A>G (p.Lys384Glu)
|
rs2075714342
|
|
NM_006306.4(SMC1A):c.1190A>G (p.Asn397Ser)
|
rs782697006
|
|
NM_006306.4(SMC1A):c.1203A>C (p.Lys401Asn)
|
rs2075714119
|
|
NM_006306.4(SMC1A):c.1213G>A (p.Asp405Asn)
|
|
|
NM_006306.4(SMC1A):c.1219C>G (p.Leu407Val)
|
|
|
NM_006306.4(SMC1A):c.1235G>A (p.Arg412Gln)
|
rs781890390
|
|
NM_006306.4(SMC1A):c.124A>G (p.Met42Val)
|
rs1556891104
|
|
NM_006306.4(SMC1A):c.1269A>G (p.Gln423=)
|
rs2075703211
|
|
NM_006306.4(SMC1A):c.1338-4G>C
|
|
|
NM_006306.4(SMC1A):c.1369G>C (p.Gly457Arg)
|
|
|
NM_006306.4(SMC1A):c.1370G>C (p.Gly457Ala)
|
|
|
NM_006306.4(SMC1A):c.1396G>T (p.Ala466Ser)
|
|
|
NM_006306.4(SMC1A):c.140T>G (p.Phe47Cys)
|
rs1569359530
|
|
NM_006306.4(SMC1A):c.1412A>G (p.Asp471Gly)
|
rs2146602338
|
|
NM_006306.4(SMC1A):c.1436A>C (p.Gln479Pro)
|
rs2075701962
|
|
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly)
|
rs587784405
|
|
NM_006306.4(SMC1A):c.1546-10C>G
|
rs2146600160
|
|
NM_006306.4(SMC1A):c.1553G>A (p.Arg518His)
|
rs2146600129
|
|
NM_006306.4(SMC1A):c.1628A>G (p.Asp543Gly)
|
|
|
NM_006306.4(SMC1A):c.1665C>G (p.Asp555Glu)
|
|
|
NM_006306.4(SMC1A):c.1681A>C (p.Lys561Gln)
|
rs2075689185
|
|
NM_006306.4(SMC1A):c.1682A>G (p.Lys561Arg)
|
rs2075689167
|
|
NM_006306.4(SMC1A):c.1695G>T (p.Gly565=)
|
|
|
NM_006306.4(SMC1A):c.1696G>A (p.Glu566Lys)
|
rs2146600005
|
|
NM_006306.4(SMC1A):c.1731+3G>T
|
rs2075688980
|
|
NM_006306.4(SMC1A):c.1799A>T (p.Tyr600Phe)
|
|
|
NM_006306.4(SMC1A):c.1808C>T (p.Pro603Leu)
|
|
|
NM_006306.4(SMC1A):c.1829A>G (p.Gln610Arg)
|
|
|
NM_006306.4(SMC1A):c.1844A>G (p.Asn615Ser)
|
rs2146599772
|
|
NM_006306.4(SMC1A):c.1847C>T (p.Ala616Val)
|
rs782196047
|
|
NM_006306.4(SMC1A):c.1872T>G (p.Asp624Glu)
|
rs1369059288
|
|
NM_006306.4(SMC1A):c.1876C>T (p.Arg626Cys)
|
rs1556889577
|
|
NM_006306.4(SMC1A):c.1877G>A (p.Arg626His)
|
rs587784407
|
|
NM_006306.4(SMC1A):c.1879C>T (p.Arg627Cys)
|
|
|
NM_006306.4(SMC1A):c.1904G>A (p.Arg635His)
|
rs2146599709
|
|
NM_006306.4(SMC1A):c.1906C>T (p.His636Tyr)
|
|
|
NM_006306.4(SMC1A):c.1911G>A (p.Lys637=)
|
rs2075687850
|
|
NM_006306.4(SMC1A):c.1961G>T (p.Gly654Val)
|
|
|
NM_006306.4(SMC1A):c.2061G>A (p.Glu687=)
|
rs2075686281
|
|
NM_006306.4(SMC1A):c.2065A>G (p.Met689Val)
|
rs2075686262
|
|
NM_006306.4(SMC1A):c.2095C>T (p.Arg699Cys)
|
rs2075686139
|
|
NM_006306.4(SMC1A):c.2156T>C (p.Leu719Pro)
|
|
|
NM_006306.4(SMC1A):c.2171C>T (p.Thr724Ile)
|
|
|
NM_006306.4(SMC1A):c.2291A>G (p.Asp764Gly)
|
|
|
NM_006306.4(SMC1A):c.2299_2301del (p.Glu767del)
|
|
|
NM_006306.4(SMC1A):c.2313+3T>G
|
rs782384493
|
|
NM_006306.4(SMC1A):c.2314-15G>A
|
rs2146598343
|
|
NM_006306.4(SMC1A):c.2314G>T (p.Val772Leu)
|
rs2075680361
|
|
NM_006306.4(SMC1A):c.2320G>A (p.Asp774Asn)
|
rs2075680329
|
|
NM_006306.4(SMC1A):c.2350A>G (p.Ile784Val)
|
rs587784411
|
|
NM_006306.4(SMC1A):c.2360G>A (p.Arg787His)
|
|
|
NM_006306.4(SMC1A):c.2420+5G>A
|
rs1556889217
|
|
NM_006306.4(SMC1A):c.2446C>T (p.Arg816Cys)
|
rs1556888586
|
|
NM_006306.4(SMC1A):c.2456T>G (p.Ile819Ser)
|
rs587784413
|
|
NM_006306.4(SMC1A):c.2498A>G (p.Asp833Gly)
|
|
|
NM_006306.4(SMC1A):c.2509A>T (p.Met837Leu)
|
|
|
NM_006306.4(SMC1A):c.2555T>C (p.Leu852Pro)
|
|
|
NM_006306.4(SMC1A):c.2560A>C (p.Lys854Gln)
|
|
|
NM_006306.4(SMC1A):c.2563-3C>G
|
|
|
NM_006306.4(SMC1A):c.2563-3C>T
|
|
|
NM_006306.4(SMC1A):c.2585T>C (p.Ile862Thr)
|
|
|
NM_006306.4(SMC1A):c.261_272del (p.Glu87_Glu90del)
|
rs1569359505
|
|
NM_006306.4(SMC1A):c.2635G>A (p.Ala879Thr)
|
|
|
NM_006306.4(SMC1A):c.2671A>G (p.Met891Val)
|
rs2146593592
|
|
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=)
|
rs186510389
|
|
NM_006306.4(SMC1A):c.2708+7G>A
|
|
|
NM_006306.4(SMC1A):c.2708A>G (p.Lys903Arg)
|
rs1569355072
|
|
NM_006306.4(SMC1A):c.2717C>T (p.Thr906Ile)
|
rs2146593520
|
|
NM_006306.4(SMC1A):c.2727G>T (p.Gln909His)
|
|
|
NM_006306.4(SMC1A):c.2729AGG[1] (p.Glu911del)
|
rs2075651266
|
|
NM_006306.4(SMC1A):c.2753A>C (p.Lys918Thr)
|
|
|
NM_006306.4(SMC1A):c.2777G>A (p.Arg926His)
|
|
|
NM_006306.4(SMC1A):c.2789T>C (p.Leu930Pro)
|
rs2146593453
|
|
NM_006306.4(SMC1A):c.2794G>A (p.Ala932Thr)
|
|
|
NM_006306.4(SMC1A):c.2862+4A>G
|
rs1445281439
|
|
NM_006306.4(SMC1A):c.2873A>G (p.Gln958Arg)
|
rs1253991330
|
|
NM_006306.4(SMC1A):c.2882A>T (p.Asp961Val)
|
rs2146592435
|
|
NM_006306.4(SMC1A):c.2887G>C (p.Val963Leu)
|
rs2146592426
|
|
NM_006306.4(SMC1A):c.2890A>G (p.Ser964Gly)
|
|
|
NM_006306.4(SMC1A):c.2912G>T (p.Ser971Ile)
|
|
|
NM_006306.4(SMC1A):c.2918A>G (p.Tyr973Cys)
|
|
|
NM_006306.4(SMC1A):c.2966A>T (p.Asp989Val)
|
|
|
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=)
|
rs2075644860
|
|
NM_006306.4(SMC1A):c.2974-9G>A
|
rs2146583272
|
|
NM_006306.4(SMC1A):c.2981A>G (p.Gln994Arg)
|
rs781817923
|
|
NM_006306.4(SMC1A):c.298G>C (p.Gly100Arg)
|
rs1569359487
|
|
NM_006306.4(SMC1A):c.3026A>G (p.Lys1009Arg)
|
|
|
NM_006306.4(SMC1A):c.3039G>C (p.Gln1013His)
|
|
|
NM_006306.4(SMC1A):c.304T>G (p.Ser102Ala)
|
rs2146606564
|
|
NM_006306.4(SMC1A):c.3053A>G (p.Gln1018Arg)
|
rs2075591743
|
|
NM_006306.4(SMC1A):c.3056G>A (p.Arg1019His)
|
|
|
NM_006306.4(SMC1A):c.3131-13T>G
|
rs1273874101
|
|
NM_006306.4(SMC1A):c.3178G>A (p.Glu1060Lys)
|
rs1057521921
|
|
NM_006306.4(SMC1A):c.3205C>G (p.Arg1069Gly)
|
rs2075588188
|
|
NM_006306.4(SMC1A):c.3212A>G (p.Asn1071Ser)
|
|
|
NM_006306.4(SMC1A):c.3227C>T (p.Ser1076Phe)
|
rs2146582586
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NM_006306.4(SMC1A):c.3235A>G (p.Thr1079Ala)
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rs1602398590
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NM_006306.4(SMC1A):c.3252C>G (p.Ile1084Met)
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rs587784417
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NM_006306.4(SMC1A):c.3280G>A (p.Ala1094Thr)
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NM_006306.4(SMC1A):c.3290T>A (p.Phe1097Tyr)
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rs1131692271
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NM_006306.4(SMC1A):c.3305A>G (p.Asn1102Ser)
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rs2146582465
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NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His)
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rs2075586377
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NM_006306.4(SMC1A):c.3436A>C (p.Ser1146Arg)
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NM_006306.4(SMC1A):c.3468T>G (p.Asp1156Glu)
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rs1556885815
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NM_006306.4(SMC1A):c.34T>G (p.Phe12Val)
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rs2146614101
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NM_006306.4(SMC1A):c.3507+3G>A
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rs1556885809
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NM_006306.4(SMC1A):c.3507+5G>A
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NM_006306.4(SMC1A):c.3530A>G (p.Gln1177Arg)
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NM_006306.4(SMC1A):c.3533C>T (p.Ser1178Leu)
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NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=)
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rs782763816
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NM_006306.4(SMC1A):c.3559A>G (p.Ile1187Val)
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rs2146581303
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NM_006306.4(SMC1A):c.3592G>C (p.Glu1198Gln)
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rs782175064
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NM_006306.4(SMC1A):c.3621A>G (p.Gln1207=)
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rs2146581022
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NM_006306.4(SMC1A):c.3625G>A (p.Asp1209Asn)
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NM_006306.4(SMC1A):c.3655G>A (p.Asp1219Asn)
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NM_006306.4(SMC1A):c.3655_3656insCCG (p.Phe1218_Asp1219insAla)
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rs2075576498
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NM_006306.4(SMC1A):c.3661A>G (p.Thr1221Ala)
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rs2146580992
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NM_006306.4(SMC1A):c.37A>C (p.Lys13Gln)
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rs2075764777
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NM_006306.4(SMC1A):c.391C>T (p.Arg131Cys)
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NM_006306.4(SMC1A):c.428T>G (p.Ile143Ser)
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rs2146605688
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NM_006306.4(SMC1A):c.479G>A (p.Arg160His)
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NM_006306.4(SMC1A):c.4G>C (p.Gly2Arg)
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NM_006306.4(SMC1A):c.512G>A (p.Arg171Gln)
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rs2075720519
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NM_006306.4(SMC1A):c.526G>A (p.Val176Met)
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NM_006306.4(SMC1A):c.562C>T (p.Arg188Cys)
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rs2146605558
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NM_006306.4(SMC1A):c.578C>T (p.Ala193Val)
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NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys)
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rs587784422
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NM_006306.4(SMC1A):c.641A>G (p.Asp214Gly)
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NM_006306.4(SMC1A):c.653G>A (p.Arg218Gln)
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NM_006306.4(SMC1A):c.738C>A (p.Asn246Lys)
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NM_006306.4(SMC1A):c.739A>G (p.Lys247Glu)
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NM_006306.4(SMC1A):c.744_755del (p.Glu248_Lys251del)
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rs2146605357
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NM_006306.4(SMC1A):c.756C>G (p.Asp252Glu)
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rs370671274
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NM_006306.4(SMC1A):c.764G>C (p.Arg255Pro)
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NM_006306.4(SMC1A):c.773A>G (p.Lys258Arg)
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NM_006306.4(SMC1A):c.800A>G (p.Lys267Arg)
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NM_006306.4(SMC1A):c.812G>A (p.Gly271Asp)
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rs2146605306
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NM_006306.4(SMC1A):c.824G>A (p.Arg275Gln)
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NM_006306.4(SMC1A):c.859_861del (p.Lys287del)
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rs1556890626
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NM_006306.4(SMC1A):c.917C>A (p.Ser306Tyr)
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rs2146604807
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NM_006306.4(SMC1A):c.920A>G (p.His307Arg)
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rs1556890616
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NM_006306.4(SMC1A):c.937G>A (p.Glu313Lys)
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NM_006306.4(SMC1A):c.947A>G (p.Lys316Arg)
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NM_006306.4(SMC1A):c.970A>G (p.Lys324Glu)
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NM_006306.4(SMC1A):c.977A>T (p.Tyr326Phe)
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NM_006306.4(SMC1A):c.986G>C (p.Arg329Pro)
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rs782449052
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