NM_006306.4(SMC1A):c.-19C>T
|
rs1264011
|
0.42752
|
NM_006306.4(SMC1A):c.*5481G>A
|
rs147896900
|
0.01746
|
NM_006306.4(SMC1A):c.412-10C>T
|
rs149219651
|
0.01511
|
NM_006306.4(SMC1A):c.*96C>T
|
rs139317060
|
0.01188
|
NM_006306.4(SMC1A):c.*3838G>A
|
rs144702614
|
0.01053
|
NM_006306.4(SMC1A):c.*2973C>T
|
rs56110615
|
0.01037
|
NM_006306.4(SMC1A):c.*2423G>A
|
rs147324052
|
0.00991
|
NM_006306.4(SMC1A):c.*5016T>C
|
rs17002602
|
0.00919
|
NM_006306.4(SMC1A):c.2197-5T>C
|
rs2297104
|
0.00852
|
NM_006306.4(SMC1A):c.*2389G>T
|
rs114329529
|
0.00775
|
NM_006306.4(SMC1A):c.*5380G>A
|
rs186354950
|
0.00739
|
NM_006306.4(SMC1A):c.*4645T>C
|
rs150365487
|
0.00678
|
NM_006306.4(SMC1A):c.699G>A (p.Val233=)
|
rs145319852
|
0.00488
|
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=)
|
rs7052858
|
0.00452
|
NM_006306.4(SMC1A):c.*14C>T
|
rs112727682
|
0.00436
|
NM_006306.4(SMC1A):c.298+19A>G
|
rs113817745
|
0.00432
|
NM_006306.4(SMC1A):c.855-15C>T
|
rs147791932
|
0.00326
|
NM_006306.4(SMC1A):c.*4952_*4953del
|
rs782700101
|
0.00325
|
NM_006306.4(SMC1A):c.*4887T>C
|
rs142173620
|
0.00318
|
NM_006306.4(SMC1A):c.*3421G>T
|
rs41304780
|
0.00288
|
NM_006306.4(SMC1A):c.*1542T>C
|
rs781783328
|
0.00263
|
NM_006306.4(SMC1A):c.1254+11G>C
|
rs144354524
|
0.00258
|
NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=)
|
rs144850468
|
0.00183
|
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=)
|
rs142611198
|
0.00183
|
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.*5444G>A
|
rs181871602
|
0.00055
|
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=)
|
rs146216425
|
0.00051
|
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.1912-14C>T
|
rs375109064
|
0.00046
|
NM_006306.4(SMC1A):c.2862+14C>T
|
rs180705944
|
0.00044
|
NM_006306.4(SMC1A):c.*5489G>T
|
rs1007398058
|
0.00040
|
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=)
|
rs139654605
|
0.00039
|
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.*1239T>C
|
rs782502306
|
0.00023
|
NM_006306.4(SMC1A):c.*3851A>T
|
rs782817464
|
0.00023
|
NM_006306.4(SMC1A):c.*5946C>T
|
rs972532010
|
0.00021
|
NM_006306.4(SMC1A):c.3438-7C>T
|
rs782796392
|
0.00020
|
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=)
|
rs147952638
|
0.00019
|
NM_006306.4(SMC1A):c.*2856A>T
|
rs148128199
|
0.00018
|
NM_006306.4(SMC1A):c.2862+20G>A
|
rs374473076
|
0.00017
|
NM_006306.4(SMC1A):c.1098G>A (p.Thr366=)
|
rs140585416
|
0.00015
|
NM_006306.4(SMC1A):c.1564C>T (p.Leu522=)
|
rs782367851
|
0.00015
|
NM_006306.4(SMC1A):c.1337+9C>T
|
rs376455825
|
0.00014
|
NM_006306.4(SMC1A):c.*3777C>G
|
rs41315082
|
0.00013
|
NM_006306.4(SMC1A):c.861G>A (p.Lys287=)
|
rs782543093
|
0.00012
|
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.*348C>T
|
rs782700234
|
0.00010
|
NM_006306.4(SMC1A):c.1923G>A (p.Leu641=)
|
rs782123095
|
0.00008
|
NM_006306.4(SMC1A):c.579G>A (p.Ala193=)
|
rs199571320
|
0.00008
|
NM_006306.4(SMC1A):c.*2540C>G
|
rs182535846
|
0.00007
|
NM_006306.4(SMC1A):c.*2589A>G
|
rs782291666
|
0.00007
|
NM_006306.4(SMC1A):c.1431G>C (p.Leu477=)
|
rs1392864809
|
0.00007
|
NM_006306.4(SMC1A):c.1911+12C>G
|
rs200324148
|
0.00007
|
NM_006306.4(SMC1A):c.2562+17T>G
|
rs782781158
|
0.00007
|
NM_006306.4(SMC1A):c.2691A>G (p.Lys897=)
|
rs782574044
|
0.00007
|
NM_006306.4(SMC1A):c.3438-18C>T
|
rs781873202
|
0.00007
|
NM_006306.4(SMC1A):c.764G>A (p.Arg255His)
|
rs782606119
|
0.00007
|
NM_006306.4(SMC1A):c.2034G>A (p.Lys678=)
|
rs782008528
|
0.00006
|
NM_006306.4(SMC1A):c.2977G>T (p.Ala993Ser)
|
rs782127256
|
0.00006
|
NM_006306.4(SMC1A):c.3177C>T (p.Phe1059=)
|
rs375312256
|
0.00006
|
NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe)
|
rs148835205
|
0.00006
|
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.2646G>A (p.Ser882=)
|
rs1193658492
|
0.00005
|
NM_006306.4(SMC1A):c.3063C>T (p.Ala1021=)
|
rs202083908
|
0.00005
|
NM_006306.4(SMC1A):c.756C>T (p.Asp252=)
|
rs370671274
|
0.00005
|
NM_006306.4(SMC1A):c.825G>A (p.Arg275=)
|
rs150488530
|
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.109+13T>G
|
rs782668468
|
0.00004
|
NM_006306.4(SMC1A):c.1347A>C (p.Leu449=)
|
rs142531536
|
0.00004
|
NM_006306.4(SMC1A):c.298+12T>C
|
rs782781148
|
0.00004
|
NM_006306.4(SMC1A):c.3186C>G (p.Ile1062Met)
|
rs372307204
|
0.00004
|
NM_006306.4(SMC1A):c.3390C>T (p.Gly1130=)
|
rs374246357
|
0.00004
|
NM_006306.4(SMC1A):c.3438-3C>T
|
rs782161734
|
0.00004
|
NM_006306.4(SMC1A):c.458C>T (p.Ala153Val)
|
rs1171109209
|
0.00004
|
NM_006306.4(SMC1A):c.854+17G>A
|
rs781860125
|
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.1101G>A (p.Leu367=)
|
rs782695048
|
0.00003
|
NM_006306.4(SMC1A):c.1548C>T (p.Tyr516=)
|
rs782547781
|
0.00003
|
NM_006306.4(SMC1A):c.1566A>G (p.Leu522=)
|
rs782191187
|
0.00003
|
NM_006306.4(SMC1A):c.1933C>T (p.Leu645=)
|
rs987473076
|
0.00003
|
NM_006306.4(SMC1A):c.1938C>T (p.Phe646=)
|
rs370873072
|
0.00003
|
NM_006306.4(SMC1A):c.2058+9C>G
|
rs1356800269
|
0.00003
|
NM_006306.4(SMC1A):c.2059-9T>C
|
rs782041729
|
0.00003
|
NM_006306.4(SMC1A):c.227A>G (p.Asn76Ser)
|
rs200243549
|
0.00003
|
NM_006306.4(SMC1A):c.2421-20C>T
|
rs1282673050
|
0.00003
|
NM_006306.4(SMC1A):c.2600T>C (p.Met867Thr)
|
rs1034852654
|
0.00003
|
NM_006306.4(SMC1A):c.2973+16_2973+17del
|
rs782659050
|
0.00003
|
NM_006306.4(SMC1A):c.3618+8G>A
|
rs782319907
|
0.00003
|
NM_006306.4(SMC1A):c.412-14T>G
|
rs782106342
|
0.00003
|
NM_006306.4(SMC1A):c.429T>C (p.Ile143=)
|
rs782366028
|
0.00003
|
NM_006306.4(SMC1A):c.594A>G (p.Glu198=)
|
rs1556890814
|
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.1290G>A (p.Glu430=)
|
rs369057648
|
0.00002
|
NM_006306.4(SMC1A):c.1545+5G>A
|
rs113714434
|
0.00002
|
NM_006306.4(SMC1A):c.1546-5C>T
|
rs1556889651
|
0.00002
|
NM_006306.4(SMC1A):c.1578A>G (p.Thr526=)
|
rs1210222346
|
0.00002
|
NM_006306.4(SMC1A):c.15A>G (p.Lys5=)
|
rs782396631
|
0.00002
|
NM_006306.4(SMC1A):c.174A>G (p.Val58=)
|
rs200428075
|
0.00002
|
NM_006306.4(SMC1A):c.1863C>T (p.Asn621=)
|
rs782665597
|
0.00002
|
NM_006306.4(SMC1A):c.2124G>A (p.Leu708=)
|
rs1309209851
|
0.00002
|
NM_006306.4(SMC1A):c.2132G>A (p.Arg711Gln)
|
rs782176647
|
0.00002
|
NM_006306.4(SMC1A):c.2205C>A (p.Ser735=)
|
rs1388876894
|
0.00002
|
NM_006306.4(SMC1A):c.2461T>C (p.Leu821=)
|
rs1198625423
|
0.00002
|
NM_006306.4(SMC1A):c.2598C>A (p.Thr866=)
|
rs781991944
|
0.00002
|
NM_006306.4(SMC1A):c.2645C>T (p.Ser882Leu)
|
rs376589639
|
0.00002
|
NM_006306.4(SMC1A):c.2718C>G (p.Thr906=)
|
rs1556888013
|
0.00002
|
NM_006306.4(SMC1A):c.2792A>G (p.Gln931Arg)
|
rs782728089
|
0.00002
|
NM_006306.4(SMC1A):c.27T>C (p.Ile9=)
|
rs1396001151
|
0.00002
|
NM_006306.4(SMC1A):c.2838C>T (p.Thr946=)
|
rs782146571
|
0.00002
|
NM_006306.4(SMC1A):c.2886A>C (p.Ser962=)
|
rs782788248
|
0.00002
|
NM_006306.4(SMC1A):c.2949C>T (p.Tyr983=)
|
rs1390804289
|
0.00002
|
NM_006306.4(SMC1A):c.299-15T>G
|
rs782364230
|
0.00002
|
NM_006306.4(SMC1A):c.3003A>G (p.Gln1001=)
|
rs782049998
|
0.00002
|
NM_006306.4(SMC1A):c.3215C>G (p.Ala1072Gly)
|
rs782241632
|
0.00002
|
NM_006306.4(SMC1A):c.3267C>G (p.Ser1089=)
|
rs368345004
|
0.00002
|
NM_006306.4(SMC1A):c.3618+7C>T
|
rs782267492
|
0.00002
|
NM_006306.4(SMC1A):c.3619-16C>T
|
rs1556885717
|
0.00002
|
NM_006306.4(SMC1A):c.3692A>G (p.Asn1231Ser)
|
rs782012594
|
0.00002
|
NM_006306.4(SMC1A):c.453G>A (p.Arg151=)
|
rs782287101
|
0.00002
|
NM_006306.4(SMC1A):c.652C>T (p.Arg218Trp)
|
rs782811561
|
0.00002
|
NM_006306.4(SMC1A):c.915C>T (p.Thr305=)
|
rs782522248
|
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.*931A>G
|
rs782237045
|
0.00001
|
NM_006306.4(SMC1A):c.102T>C (p.Asn34=)
|
rs782100278
|
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.1410T>C (p.Ile470=)
|
rs782223677
|
0.00001
|
NM_006306.4(SMC1A):c.1563C>T (p.Asp521=)
|
rs781957759
|
0.00001
|
NM_006306.4(SMC1A):c.1726C>T (p.Leu576=)
|
rs781835493
|
0.00001
|
NM_006306.4(SMC1A):c.1758G>T (p.Arg586=)
|
rs782379340
|
0.00001
|
NM_006306.4(SMC1A):c.1860C>T (p.Asp620=)
|
rs1458553359
|
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.2039G>A (p.Arg680His)
|
rs1556889522
|
0.00001
|
NM_006306.4(SMC1A):c.2046A>G (p.Thr682=)
|
rs1388761806
|
0.00001
|
NM_006306.4(SMC1A):c.2313+14G>T
|
rs1556889255
|
0.00001
|
NM_006306.4(SMC1A):c.2345G>A (p.Arg782Gln)
|
rs782733394
|
0.00001
|
NM_006306.4(SMC1A):c.2421-15C>A
|
rs1002384123
|
0.00001
|
NM_006306.4(SMC1A):c.2421-4A>G
|
rs782673405
|
0.00001
|
NM_006306.4(SMC1A):c.2505A>G (p.Val835=)
|
rs782491758
|
0.00001
|
NM_006306.4(SMC1A):c.2508C>A (p.His836Gln)
|
rs904926146
|
0.00001
|
NM_006306.4(SMC1A):c.2694C>T (p.Leu898=)
|
rs886362301
|
0.00001
|
NM_006306.4(SMC1A):c.2709-10C>A
|
rs2083250975
|
0.00001
|
NM_006306.4(SMC1A):c.2738C>T (p.Thr913Ile)
|
rs1569355048
|
0.00001
|
NM_006306.4(SMC1A):c.2788C>T (p.Leu930=)
|
rs781912370
|
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.2950G>A (p.Gly984Ser)
|
rs782381563
|
0.00001
|
NM_006306.4(SMC1A):c.2956C>T (p.Leu986=)
|
rs1556887757
|
0.00001
|
NM_006306.4(SMC1A):c.3252C>T (p.Ile1084=)
|
rs587784417
|
0.00001
|
NM_006306.4(SMC1A):c.3285+4G>A
|
rs1459975526
|
0.00001
|
NM_006306.4(SMC1A):c.3286-4C>T
|
rs1556885985
|
0.00001
|
NM_006306.4(SMC1A):c.3286-7C>T
|
rs782657390
|
0.00001
|
NM_006306.4(SMC1A):c.3437+10A>T
|
rs782079503
|
0.00001
|
NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile)
|
rs782084021
|
0.00001
|
NM_006306.4(SMC1A):c.3463C>T (p.Leu1155=)
|
rs781977704
|
0.00001
|
NM_006306.4(SMC1A):c.3570G>A (p.Lys1190=)
|
rs138015913
|
0.00001
|
NM_006306.4(SMC1A):c.3611A>T (p.Tyr1204Phe)
|
rs781998306
|
0.00001
|
NM_006306.4(SMC1A):c.3619-14C>T
|
rs782732704
|
0.00001
|
NM_006306.4(SMC1A):c.3627C>T (p.Asp1209=)
|
rs1313105752
|
0.00001
|
NM_006306.4(SMC1A):c.3683C>T (p.Pro1228Leu)
|
rs782063495
|
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.402C>T (p.Leu134=)
|
rs1211706449
|
0.00001
|
NM_006306.4(SMC1A):c.411+6C>T
|
rs782515915
|
0.00001
|
NM_006306.4(SMC1A):c.42G>C (p.Ser14=)
|
rs1463770411
|
0.00001
|
NM_006306.4(SMC1A):c.480T>A (p.Arg160=)
|
rs782369322
|
0.00001
|
NM_006306.4(SMC1A):c.494C>T (p.Ala165Val)
|
rs1556890833
|
0.00001
|
NM_006306.4(SMC1A):c.495G>A (p.Ala165=)
|
rs782260918
|
0.00001
|
NM_006306.4(SMC1A):c.552T>C (p.Phe184=)
|
rs1556890821
|
0.00001
|
NM_006306.4(SMC1A):c.63C>T (p.Ile21=)
|
rs781999328
|
0.00001
|
NM_006306.4(SMC1A):c.675C>T (p.Leu225=)
|
rs782182228
|
0.00001
|
NM_006306.4(SMC1A):c.716A>G (p.Asn239Ser)
|
rs782172948
|
0.00001
|
NM_006306.4(SMC1A):c.753G>A (p.Lys251=)
|
rs782297601
|
0.00001
|
NM_006306.4(SMC1A):c.763C>T (p.Arg255Cys)
|
rs782209409
|
0.00001
|
NM_006306.4(SMC1A):c.816A>G (p.Lys272=)
|
rs782455775
|
0.00001
|
NM_006306.4(SMC1A):c.823C>T (p.Arg275Trp)
|
rs781812690
|
0.00001
|
NM_006306.4(SMC1A):c.855-13C>T
|
rs1556890636
|
0.00001
|
NM_006306.4(SMC1A):c.986G>A (p.Arg329His)
|
rs782449052
|
0.00001
|
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.(?_53430478)_(53432101_?)del
|
|
|
NC_000023.10:g.(?_53430478)_(53442138_?)del
|
|
|
NC_000023.10:g.(?_53435973)_(53442138_?)del
|
|
|
NC_000023.10:g.(?_53448825)_(53449569_?)del
|
|
|
NC_000023.10:g.(?_53449431)_(53449549_?)del
|
|
|
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.*3087G>A
|
rs782024964
|
|
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.*817ACAG[1]
|
rs1057515968
|
|
NM_006306.4(SMC1A):c.1005G>T (p.Glu335Asp)
|
|
|
NM_006306.4(SMC1A):c.1014G>C (p.Lys338Asn)
|
|
|
NM_006306.4(SMC1A):c.1023G>A (p.Leu341=)
|
rs782132247
|
|
NM_006306.4(SMC1A):c.1050T>C (p.Phe350=)
|
rs2146604747
|
|
NM_006306.4(SMC1A):c.1056A>G (p.Glu352=)
|
|
|
NM_006306.4(SMC1A):c.1057C>T (p.Arg353Trp)
|
|
|
NM_006306.4(SMC1A):c.1059G>A (p.Arg353=)
|
|
|
NM_006306.4(SMC1A):c.1080T>C (p.Ser360=)
|
|
|
NM_006306.4(SMC1A):c.109+19C>A
|
rs933977903
|
|
NM_006306.4(SMC1A):c.109+19C>T
|
|
|
NM_006306.4(SMC1A):c.109+575dup
|
rs2075758478
|
|
NM_006306.4(SMC1A):c.1099T>C (p.Leu367=)
|
|
|
NM_006306.4(SMC1A):c.10del (p.Phe3_Leu4insTer)
|
rs2146614137
|
|
NM_006306.4(SMC1A):c.110-12C>T
|
|
|
NM_006306.4(SMC1A):c.110-16G>A
|
rs929835697
|
|
NM_006306.4(SMC1A):c.110-17C>T
|
|
|
NM_006306.4(SMC1A):c.110-19C>T
|
|
|
NM_006306.4(SMC1A):c.1102G>A (p.Glu368Lys)
|
rs2146604722
|
|
NM_006306.4(SMC1A):c.110G>T (p.Gly37Val)
|
rs1569359540
|
|
NM_006306.4(SMC1A):c.1113+16G>C
|
|
|
NM_006306.4(SMC1A):c.1113+17del
|
|
|
NM_006306.4(SMC1A):c.1114-15C>T
|
rs1489497654
|
|
NM_006306.4(SMC1A):c.1114-21_1114-19del
|
|
|
NM_006306.4(SMC1A):c.1114-2A>G
|
rs1569358628
|
|
NM_006306.4(SMC1A):c.1114-3C>T
|
|
|
NM_006306.4(SMC1A):c.1125C>T (p.Tyr375=)
|
|
|
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.1152G>A (p.Lys384=)
|
|
|
NM_006306.4(SMC1A):c.1158A>G (p.Ala386=)
|
rs2075714290
|
|
NM_006306.4(SMC1A):c.116C>G (p.Ser39Ter)
|
rs1057518670
|
|
NM_006306.4(SMC1A):c.1171C>T (p.Gln391Ter)
|
rs2146604602
|
|
NM_006306.4(SMC1A):c.1190A>G (p.Asn397Ser)
|
rs782697006
|
|
NM_006306.4(SMC1A):c.1191T>C (p.Asn397=)
|
|
|
NM_006306.4(SMC1A):c.1193G>A (p.Arg398Gln)
|
rs587784403
|
|
NM_006306.4(SMC1A):c.1203A>C (p.Lys401Asn)
|
rs2075714119
|
|
NM_006306.4(SMC1A):c.1212G>A (p.Gln404=)
|
rs2146604588
|
|
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.1239G>A (p.Lys413=)
|
|
|
NM_006306.4(SMC1A):c.124A>G (p.Met42Val)
|
rs1556891104
|
|
NM_006306.4(SMC1A):c.1254+17A>G
|
rs2146604554
|
|
NM_006306.4(SMC1A):c.1254+8A>G
|
rs2075713975
|
|
NM_006306.4(SMC1A):c.1255-19T>G
|
|
|
NM_006306.4(SMC1A):c.1267C>A (p.Gln423Lys)
|
rs587784404
|
|
NM_006306.4(SMC1A):c.1269A>G (p.Gln423=)
|
rs2075703211
|
|
NM_006306.4(SMC1A):c.1276_1282del (p.Arg426fs)
|
|
|
NM_006306.4(SMC1A):c.128A>T (p.Asp43Val)
|
rs1569359535
|
|
NM_006306.4(SMC1A):c.1299del (p.Lys433fs)
|
rs1602411858
|
|
NM_006306.4(SMC1A):c.12G>C (p.Leu4=)
|
rs2146614125
|
|
NM_006306.4(SMC1A):c.1335C>T (p.Ser445=)
|
|
|
NM_006306.4(SMC1A):c.1337+15A>C
|
|
|
NM_006306.4(SMC1A):c.1337+17C>T
|
rs2075702882
|
|
NM_006306.4(SMC1A):c.1338-12C>G
|
|
|
NM_006306.4(SMC1A):c.1338-12del
|
|
|
NM_006306.4(SMC1A):c.1338-4G>A
|
rs2146602390
|
|
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.1388_1389insC (p.Glu464fs)
|
rs1057519398
|
|
NM_006306.4(SMC1A):c.1396G>T (p.Ala466Ser)
|
|
|
NM_006306.4(SMC1A):c.1402C>A (p.Arg468=)
|
|
|
NM_006306.4(SMC1A):c.1404G>A (p.Arg468=)
|
|
|
NM_006306.4(SMC1A):c.1408A>G (p.Ile470Val)
|
|
|
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.1419C>T (p.Ile473=)
|
|
|
NM_006306.4(SMC1A):c.1425G>A (p.Lys475=)
|
rs2075702025
|
|
NM_006306.4(SMC1A):c.1428G>A (p.Glu476=)
|
rs2146602309
|
|
NM_006306.4(SMC1A):c.1436A>C (p.Gln479Pro)
|
rs2075701962
|
|
NM_006306.4(SMC1A):c.1447del (p.Gln483fs)
|
|
|
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly)
|
rs587784405
|
|
NM_006306.4(SMC1A):c.1467C>T (p.Ile489=)
|
|
|
NM_006306.4(SMC1A):c.1478A>C (p.Glu493Ala)
|
rs122454122
|
|
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys)
|
rs2075701790
|
|
NM_006306.4(SMC1A):c.1487G>A (p.Arg496His)
|
rs122454123
|
|
NM_006306.4(SMC1A):c.1488C>A (p.Arg496=)
|
|
|
NM_006306.4(SMC1A):c.1495C>T (p.Arg499Ter)
|
rs1556890135
|
|
NM_006306.4(SMC1A):c.1497A>C (p.Arg499=)
|
rs2146602244
|
|
NM_006306.4(SMC1A):c.1536T>C (p.Pro512=)
|
rs200645744
|
|
NM_006306.4(SMC1A):c.1545+18A>G
|
|
|
NM_006306.4(SMC1A):c.1546-10C>G
|
rs2146600160
|
|
NM_006306.4(SMC1A):c.1546-11A>G
|
|
|
NM_006306.4(SMC1A):c.1546-13C>G
|
|
|
NM_006306.4(SMC1A):c.1546-17C>T
|
|
|
NM_006306.4(SMC1A):c.1546-2A>C
|
|
|
NM_006306.4(SMC1A):c.1553G>A (p.Arg518His)
|
rs2146600129
|
|
NM_006306.4(SMC1A):c.157dup (p.Thr53fs)
|
rs2075726992
|
|
NM_006306.4(SMC1A):c.1607A>G (p.Lys536Arg)
|
rs2146600076
|
|
NM_006306.4(SMC1A):c.1628A>G (p.Asp543Gly)
|
|
|
NM_006306.4(SMC1A):c.1647G>C (p.Ser549=)
|
rs782582676
|
|
NM_006306.4(SMC1A):c.1653G>A (p.Lys551=)
|
|
|
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.1694G>A (p.Gly565Glu)
|
rs2146600012
|
|
NM_006306.4(SMC1A):c.1695G>T (p.Gly565=)
|
|
|
NM_006306.4(SMC1A):c.1696G>A (p.Glu566Lys)
|
rs2146600005
|
|
NM_006306.4(SMC1A):c.1714C>T (p.Pro572Ser)
|
|
|
NM_006306.4(SMC1A):c.1715C>T (p.Pro572Leu)
|
|
|
NM_006306.4(SMC1A):c.1717del (p.Asp574fs)
|
|
|
NM_006306.4(SMC1A):c.1731+3G>T
|
rs2075688980
|
|
NM_006306.4(SMC1A):c.173_187del (p.Val58_Arg62del)
|
|
|
NM_006306.4(SMC1A):c.1754T>C (p.Leu585Pro)
|
rs587784406
|
|
NM_006306.4(SMC1A):c.1756C>T (p.Arg586Trp)
|
rs2146599836
|
|
NM_006306.4(SMC1A):c.1782G>A (p.Val594=)
|
|
|
NM_006306.4(SMC1A):c.1785_1788del (p.Ile595fs)
|
rs1602410239
|
|
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.1832dup (p.Tyr611Ter)
|
|
|
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.184C>A (p.Arg62=)
|
|
|
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.1899C>T (p.His633=)
|
|
|
NM_006306.4(SMC1A):c.1904G>A (p.Arg635His)
|
rs2146599709
|
|
NM_006306.4(SMC1A):c.1906C>T (p.His636Tyr)
|
|
|
NM_006306.4(SMC1A):c.1911+11C>T
|
|
|
NM_006306.4(SMC1A):c.1911+18C>T
|
|
|
NM_006306.4(SMC1A):c.1911G>A (p.Lys637=)
|
rs2075687850
|
|
NM_006306.4(SMC1A):c.1912-10C>G
|
|
|
NM_006306.4(SMC1A):c.1912-4G>T
|
rs2075687357
|
|
NM_006306.4(SMC1A):c.1920A>T (p.Ala640=)
|
|
|
NM_006306.4(SMC1A):c.1927G>T (p.Gly643Ter)
|
|
|
NM_006306.4(SMC1A):c.192G>C (p.Leu64=)
|
rs2146606701
|
|
NM_006306.4(SMC1A):c.1935A>C (p.Leu645=)
|
|
|
NM_006306.4(SMC1A):c.1935A>G (p.Leu645=)
|
|
|
NM_006306.4(SMC1A):c.1958C>T (p.Ser653Phe)
|
rs2075687166
|
|
NM_006306.4(SMC1A):c.1961G>T (p.Gly654Val)
|
|
|
NM_006306.4(SMC1A):c.1962T>G (p.Gly654=)
|
|
|
NM_006306.4(SMC1A):c.1964G>A (p.Gly655Glu)
|
rs1602410098
|
|
NM_006306.4(SMC1A):c.1977G>A (p.Leu659=)
|
rs2146599598
|
|
NM_006306.4(SMC1A):c.1989_1995del (p.Arg664fs)
|
|
|
NM_006306.4(SMC1A):c.1994G>A (p.Arg665His)
|
|
|
NM_006306.4(SMC1A):c.2029AAG[1] (p.Lys678del)
|
rs2146599562
|
|
NM_006306.4(SMC1A):c.2035G>T (p.Glu679Ter)
|
rs1569356968
|
|
NM_006306.4(SMC1A):c.2040C>T (p.Arg680=)
|
rs782816467
|
|
NM_006306.4(SMC1A):c.2046_2048del (p.Glu684del)
|
rs797045992
|
|
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.2078G>A (p.Arg693Gln)
|
rs587784408
|
|
NM_006306.4(SMC1A):c.2088A>G (p.Ala696=)
|
|
|
NM_006306.4(SMC1A):c.2095C>T (p.Arg699Cys)
|
rs2075686139
|
|
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp)
|
rs587784409
|
|
NM_006306.4(SMC1A):c.2132_2139del (p.Arg711fs)
|
rs2146599324
|
|
NM_006306.4(SMC1A):c.2146C>T (p.Gln716Ter)
|
|
|
NM_006306.4(SMC1A):c.2156T>C (p.Leu719Pro)
|
|
|
NM_006306.4(SMC1A):c.2157A>G (p.Leu719=)
|
rs1255531738
|
|
NM_006306.4(SMC1A):c.2160A>G (p.Glu720=)
|
rs2146599315
|
|
NM_006306.4(SMC1A):c.2161C>T (p.Gln721Ter)
|
rs2075685944
|
|
NM_006306.4(SMC1A):c.2171C>T (p.Thr724Ile)
|
|
|
NM_006306.4(SMC1A):c.2173C>T (p.Arg725Ter)
|
rs2146599304
|
|
NM_006306.4(SMC1A):c.2184C>A (p.Ala728=)
|
rs968499171
|
|
NM_006306.4(SMC1A):c.2226C>T (p.Ala742=)
|
|
|
NM_006306.4(SMC1A):c.2229C>T (p.Asn743=)
|
|
|
NM_006306.4(SMC1A):c.2272C>T (p.Arg758Ter)
|
rs1556889269
|
|
NM_006306.4(SMC1A):c.2278A>C (p.Arg760=)
|
|
|
NM_006306.4(SMC1A):c.2291A>G (p.Asp764Gly)
|
|
|
NM_006306.4(SMC1A):c.2299_2301del (p.Glu767del)
|
|
|
NM_006306.4(SMC1A):c.2299del (p.Glu767fs)
|
|
|
NM_006306.4(SMC1A):c.2313+3T>G
|
rs782384493
|
|
NM_006306.4(SMC1A):c.2314-12T>C
|
|
|
NM_006306.4(SMC1A):c.2314-15G>A
|
rs2146598343
|
|
NM_006306.4(SMC1A):c.2314-2A>G
|
rs1602409271
|
|
NM_006306.4(SMC1A):c.2314-2A>T
|
rs1602409271
|
|
NM_006306.4(SMC1A):c.2314-5C>T
|
|
|
NM_006306.4(SMC1A):c.2314-7_2314-3del
|
rs2146598341
|
|
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.2320G>T (p.Asp774Tyr)
|
rs2075680329
|
|
NM_006306.4(SMC1A):c.2327T>A (p.Val776Glu)
|
rs587784410
|
|
NM_006306.4(SMC1A):c.2328G>A (p.Val776=)
|
rs2146598325
|
|
NM_006306.4(SMC1A):c.2341T>C (p.Cys781Arg)
|
rs2146598316
|
|
NM_006306.4(SMC1A):c.2343T>A (p.Cys781Ter)
|
|
|
NM_006306.4(SMC1A):c.2346G>C (p.Arg782=)
|
|
|
NM_006306.4(SMC1A):c.2350A>G (p.Ile784Val)
|
rs587784411
|
|
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr)
|
rs387906702
|
|
NM_006306.4(SMC1A):c.2360G>A (p.Arg787His)
|
|
|
NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp)
|
rs587784412
|
|
NM_006306.4(SMC1A):c.2369G>A (p.Arg790Gln)
|
rs797045993
|
|
NM_006306.4(SMC1A):c.2382A>G (p.Glu794=)
|
rs2146598260
|
|
NM_006306.4(SMC1A):c.2394dup (p.Arg799fs)
|
rs1569356555
|
|
NM_006306.4(SMC1A):c.2398C>T (p.Gln800Ter)
|
rs2146598241
|
|
NM_006306.4(SMC1A):c.2420+5G>A
|
rs1556889217
|
|
NM_006306.4(SMC1A):c.2420G>A (p.Arg807His)
|
rs1569356550
|
|
NM_006306.4(SMC1A):c.2421-14A>C
|
|
|
NM_006306.4(SMC1A):c.2421-15del
|
|
|
NM_006306.4(SMC1A):c.2421-15dup
|
rs781926382
|
|
NM_006306.4(SMC1A):c.2421-16C>G
|
|
|
NM_006306.4(SMC1A):c.2421-16C>T
|
|
|
NM_006306.4(SMC1A):c.2437C>T (p.Gln813Ter)
|
rs2146595540
|
|
NM_006306.4(SMC1A):c.243C>T (p.Ser81=)
|
|
|
NM_006306.4(SMC1A):c.2446C>T (p.Arg816Cys)
|
rs1556888586
|
|
NM_006306.4(SMC1A):c.2447G>A (p.Arg816His)
|
rs886044819
|
|
NM_006306.4(SMC1A):c.2454C>T (p.Gly818=)
|
|
|
NM_006306.4(SMC1A):c.2456T>G (p.Ile819Ser)
|
rs587784413
|
|
NM_006306.4(SMC1A):c.2487G>A (p.Lys829=)
|
|
|
NM_006306.4(SMC1A):c.2493_2495del (p.Asp831_Gln832delinsGlu)
|
rs1602407457
|
|
NM_006306.4(SMC1A):c.2498A>G (p.Asp833Gly)
|
|
|
NM_006306.4(SMC1A):c.2509A>T (p.Met837Leu)
|
|
|
NM_006306.4(SMC1A):c.2514G>A (p.Trp838Ter)
|
|
|
NM_006306.4(SMC1A):c.2523A>G (p.Thr841=)
|
|
|
NM_006306.4(SMC1A):c.2547del (p.Ile849fs)
|
rs797045069
|
|
NM_006306.4(SMC1A):c.2555T>C (p.Leu852Pro)
|
|
|
NM_006306.4(SMC1A):c.2556C>A (p.Leu852=)
|
rs1602407405
|
|
NM_006306.4(SMC1A):c.2560A>C (p.Lys854Gln)
|
|
|
NM_006306.4(SMC1A):c.2562+13A>G
|
|
|
NM_006306.4(SMC1A):c.2563-13C>T
|
|
|
NM_006306.4(SMC1A):c.2563-3C>G
|
|
|
NM_006306.4(SMC1A):c.2563-3C>T
|
|
|
NM_006306.4(SMC1A):c.2563-7G>A
|
|
|
NM_006306.4(SMC1A):c.2568A>G (p.Glu856=)
|
rs2146593670
|
|
NM_006306.4(SMC1A):c.2583G>A (p.Lys861=)
|
rs1602405816
|
|
NM_006306.4(SMC1A):c.2585T>C (p.Ile862Thr)
|
|
|
NM_006306.4(SMC1A):c.2592T>C (p.Asp864=)
|
|
|
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter)
|
rs2075652085
|
|
NM_006306.4(SMC1A):c.2614G>A (p.Asp872Asn)
|
rs2146593635
|
|
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.2640G>A (p.Lys880=)
|
rs2075651961
|
|
NM_006306.4(SMC1A):c.2671A>G (p.Met891Val)
|
rs2146593592
|
|
NM_006306.4(SMC1A):c.2700C>G (p.Gly900=)
|
|
|
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=)
|
rs186510389
|
|
NM_006306.4(SMC1A):c.2708+12C>G
|
|
|
NM_006306.4(SMC1A):c.2708+13A>G
|
|
|
NM_006306.4(SMC1A):c.2708+16C>T
|
|
|
NM_006306.4(SMC1A):c.2708+7G>A
|
|
|
NM_006306.4(SMC1A):c.2708A>G (p.Lys903Arg)
|
rs1569355072
|
|
NM_006306.4(SMC1A):c.2709-16C>G
|
|
|
NM_006306.4(SMC1A):c.2709-4T>A
|
rs1602405648
|
|
NM_006306.4(SMC1A):c.270G>C (p.Glu90Asp)
|
|
|
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.2739A>G (p.Thr913=)
|
rs2146593498
|
|
NM_006306.4(SMC1A):c.2742C>T (p.Ala914=)
|
|
|
NM_006306.4(SMC1A):c.2753A>C (p.Lys918Thr)
|
|
|
NM_006306.4(SMC1A):c.2777G>A (p.Arg926His)
|
|
|
NM_006306.4(SMC1A):c.277_288del (p.Thr93_Arg96del)
|
|
|
NM_006306.4(SMC1A):c.2785T>C (p.Leu929=)
|
|
|
NM_006306.4(SMC1A):c.2789T>C (p.Leu930Pro)
|
rs2146593453
|
|
NM_006306.4(SMC1A):c.2794G>A (p.Ala932Thr)
|
|
|
NM_006306.4(SMC1A):c.2814dup (p.Lys939Ter)
|
rs1602405588
|
|
NM_006306.4(SMC1A):c.2842_2845dup (p.Asp949delinsGlyTer)
|
rs2146593421
|
|
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs)
|
rs863225458
|
|
NM_006306.4(SMC1A):c.2862+15T>C
|
|
|
NM_006306.4(SMC1A):c.2862+3G>C
|
rs2075650901
|
|
NM_006306.4(SMC1A):c.2862+4A>G
|
rs1445281439
|
|
NM_006306.4(SMC1A):c.2863-13G>A
|
|
|
NM_006306.4(SMC1A):c.2863-14C>T
|
|
|
NM_006306.4(SMC1A):c.2863-17C>G
|
|
|
NM_006306.4(SMC1A):c.2863-19C>T
|
|
|
NM_006306.4(SMC1A):c.2863-6T>C
|
|
|
NM_006306.4(SMC1A):c.2863-9C>G
|
rs371102918
|
|
NM_006306.4(SMC1A):c.286C>T (p.Arg96Cys)
|
rs2146606642
|
|
NM_006306.4(SMC1A):c.2872dup (p.Gln958fs)
|
rs1602404847
|
|
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.2890_2893del (p.Ser964fs)
|
|
|
NM_006306.4(SMC1A):c.2895T>C (p.Gly965=)
|
rs2075645097
|
|
NM_006306.4(SMC1A):c.2899C>T (p.Gln967Ter)
|
rs2146592415
|
|
NM_006306.4(SMC1A):c.2912G>T (p.Ser971Ile)
|
|
|
NM_006306.4(SMC1A):c.2918A>G (p.Tyr973Cys)
|
|
|
NM_006306.4(SMC1A):c.2919T>C (p.Tyr973=)
|
|
|
NM_006306.4(SMC1A):c.2922A>G (p.Ala974=)
|
|
|
NM_006306.4(SMC1A):c.2923C>T (p.Arg975Ter)
|
rs2146592407
|
|
NM_006306.4(SMC1A):c.2928G>A (p.Glu976=)
|
|
|
NM_006306.4(SMC1A):c.2943T>C (p.Ile981=)
|
|
|
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys)
|
rs1556887759
|
|
NM_006306.4(SMC1A):c.2966A>T (p.Asp989Val)
|
|
|
NM_006306.4(SMC1A):c.2973+11A>G
|
|
|
NM_006306.4(SMC1A):c.2973+12C>T
|
|
|
NM_006306.4(SMC1A):c.2973+16A>G
|
|
|
NM_006306.4(SMC1A):c.2973+16A>T
|
|
|
NM_006306.4(SMC1A):c.2973+18G>A
|
rs782310979
|
|
NM_006306.4(SMC1A):c.2973+18G>C
|
|
|
NM_006306.4(SMC1A):c.2973+1G>A
|
|
|
NM_006306.4(SMC1A):c.2973+20G>A
|
|
|
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=)
|
rs2075644860
|
|
NM_006306.4(SMC1A):c.2974-20G>C
|
|
|
NM_006306.4(SMC1A):c.2974-2A>G
|
rs727503774
|
|
NM_006306.4(SMC1A):c.2974-9G>A
|
rs2146583272
|
|
NM_006306.4(SMC1A):c.2979C>T (p.Ala993=)
|
rs2146583246
|
|
NM_006306.4(SMC1A):c.298+2T>C
|
|
|
NM_006306.4(SMC1A):c.298+9G>A
|
rs1556891082
|
|
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.299-12A>G
|
|
|
NM_006306.4(SMC1A):c.299-14G>A
|
rs2146606574
|
|
NM_006306.4(SMC1A):c.299-19C>T
|
|
|
NM_006306.4(SMC1A):c.3022C>T (p.Gln1008Ter)
|
rs1602398950
|
|
NM_006306.4(SMC1A):c.3024G>A (p.Gln1008=)
|
rs2146583203
|
|
NM_006306.4(SMC1A):c.3026A>G (p.Lys1009Arg)
|
|
|
NM_006306.4(SMC1A):c.302del (p.Gly101fs)
|
rs2146606566
|
|
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.3056_3082delinsTGCAG (p.Arg1019fs)
|
rs1556886127
|
|
NM_006306.4(SMC1A):c.3070A>T (p.Asn1024Tyr)
|
rs587784415
|
|
NM_006306.4(SMC1A):c.3098del (p.Ser1033fs)
|
|
|
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter)
|
rs1556886124
|
|
NM_006306.4(SMC1A):c.3118G>A (p.Glu1040Lys)
|
|
|
NM_006306.4(SMC1A):c.3119dup (p.Thr1041fs)
|
rs2075591559
|
|
NM_006306.4(SMC1A):c.3126A>G (p.Ser1042=)
|
|
|
NM_006306.4(SMC1A):c.3130+11C>G
|
|
|
NM_006306.4(SMC1A):c.3131-13T>G
|
rs1273874101
|
|
NM_006306.4(SMC1A):c.3131-15C>T
|
|
|
NM_006306.4(SMC1A):c.3131-19C>T
|
|
|
NM_006306.4(SMC1A):c.3131-4del
|
|
|
NM_006306.4(SMC1A):c.3131-5G>C
|
|
|
NM_006306.4(SMC1A):c.3131-7C>T
|
|
|
NM_006306.4(SMC1A):c.3145C>T (p.Arg1049Ter)
|
rs2146582701
|
|
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln)
|
rs587784416
|
|
NM_006306.4(SMC1A):c.3151C>T (p.Arg1051Ter)
|
rs1569351907
|
|
NM_006306.4(SMC1A):c.3174A>G (p.Ala1058=)
|
rs1432130956
|
|
NM_006306.4(SMC1A):c.3178G>A (p.Glu1060Lys)
|
rs1057521921
|
|
NM_006306.4(SMC1A):c.3187AAG[1] (p.Lys1064del)
|
rs2075588362
|
|
NM_006306.4(SMC1A):c.3196C>A (p.Arg1066Ser)
|
|
|
NM_006306.4(SMC1A):c.3196C>T (p.Arg1066Cys)
|
rs797044896
|
|
NM_006306.4(SMC1A):c.3197G>A (p.Arg1066His)
|
rs1556886034
|
|
NM_006306.4(SMC1A):c.3198C>T (p.Arg1066=)
|
|
|
NM_006306.4(SMC1A):c.3205C>G (p.Arg1069Gly)
|
rs2075588188
|
|
NM_006306.4(SMC1A):c.3205C>T (p.Arg1069Cys)
|
rs2075588188
|
|
NM_006306.4(SMC1A):c.3212A>G (p.Asn1071Ser)
|
|
|
NM_006306.4(SMC1A):c.3219T>C (p.Cys1073=)
|
|
|
NM_006306.4(SMC1A):c.3227C>T (p.Ser1076Phe)
|
rs2146582586
|
|
NM_006306.4(SMC1A):c.3235A>G (p.Thr1079Ala)
|
rs1602398590
|
|
NM_006306.4(SMC1A):c.3246T>C (p.Asp1082=)
|
|
|
NM_006306.4(SMC1A):c.3249G>A (p.Glu1083=)
|
|
|
NM_006306.4(SMC1A):c.3249dup (p.Ile1084fs)
|
rs2075587887
|
|
NM_006306.4(SMC1A):c.3252C>G (p.Ile1084Met)
|
rs587784417
|
|
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys)
|
rs587784418
|
|
NM_006306.4(SMC1A):c.3255T>A (p.Tyr1085Ter)
|
|
|
NM_006306.4(SMC1A):c.3280G>A (p.Ala1094Thr)
|
|
|
NM_006306.4(SMC1A):c.3283C>T (p.Gln1095Ter)
|
|
|
NM_006306.4(SMC1A):c.3286-4del
|
rs782700135
|
|
NM_006306.4(SMC1A):c.3290T>A (p.Phe1097Tyr)
|
rs1131692271
|
|
NM_006306.4(SMC1A):c.3305A>G (p.Asn1102Ser)
|
rs2146582465
|
|
NM_006306.4(SMC1A):c.3306C>T (p.Asn1102=)
|
rs797045994
|
|
NM_006306.4(SMC1A):c.3344G>A (p.Cys1115Tyr)
|
rs2146582443
|
|
NM_006306.4(SMC1A):c.3344G>T (p.Cys1115Phe)
|
rs2146582443
|
|
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His)
|
rs2075586377
|
|
NM_006306.4(SMC1A):c.3367C>T (p.Arg1123Trp)
|
rs2146582432
|
|
NM_006306.4(SMC1A):c.336C>G (p.Val112=)
|
|
|
NM_006306.4(SMC1A):c.3373A>G (p.Met1125Val)
|
rs1057519499
|
|
NM_006306.4(SMC1A):c.3422T>C (p.Leu1141Pro)
|
|
|
NM_006306.4(SMC1A):c.3436A>C (p.Ser1146Arg)
|
|
|
NM_006306.4(SMC1A):c.3437+12C>A
|
rs2146582406
|
|
NM_006306.4(SMC1A):c.3437+1G>A
|
rs2146582412
|
|
NM_006306.4(SMC1A):c.3438-12G>T
|
rs2146581650
|
|
NM_006306.4(SMC1A):c.3438-8C>T
|
|
|
NM_006306.4(SMC1A):c.3450C>A (p.Ala1150=)
|
rs142611198
|
|
NM_006306.4(SMC1A):c.3461T>A (p.Val1154Asp)
|
rs1569351534
|
|
NM_006306.4(SMC1A):c.3468T>G (p.Asp1156Glu)
|
rs1556885815
|
|
NM_006306.4(SMC1A):c.3490A>G (p.Asn1164Asp)
|
rs868961188
|
|
NM_006306.4(SMC1A):c.3497A>C (p.Asn1166Thr)
|
rs1556885810
|
|
NM_006306.4(SMC1A):c.3497A>G (p.Asn1166Ser)
|
rs1556885810
|
|
NM_006306.4(SMC1A):c.34T>G (p.Phe12Val)
|
rs2146614101
|
|
NM_006306.4(SMC1A):c.3507+3G>A
|
rs1556885809
|
|
NM_006306.4(SMC1A):c.3507+5G>A
|
|
|
NM_006306.4(SMC1A):c.3508-13G>T
|
|
|
NM_006306.4(SMC1A):c.3508-15C>T
|
|
|
NM_006306.4(SMC1A):c.3508-18T>C
|
|
|
NM_006306.4(SMC1A):c.3508-20C>T
|
|
|
NM_006306.4(SMC1A):c.3508-2A>G
|
rs2146581345
|
|
NM_006306.4(SMC1A):c.3508-6C>T
|
|
|
NM_006306.4(SMC1A):c.351C>T (p.Tyr117=)
|
|
|
NM_006306.4(SMC1A):c.3530A>G (p.Gln1177Arg)
|
|
|
NM_006306.4(SMC1A):c.3533C>T (p.Ser1178Leu)
|
|
|
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=)
|
rs782763816
|
|
NM_006306.4(SMC1A):c.3549G>A (p.Gln1183=)
|
rs2146581326
|
|
NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs)
|
rs863225459
|
|
NM_006306.4(SMC1A):c.3555C>T (p.Ile1185=)
|
rs2146581314
|
|
NM_006306.4(SMC1A):c.3557T>C (p.Val1186Ala)
|
rs587784419
|
|
NM_006306.4(SMC1A):c.3559A>G (p.Ile1187Val)
|
rs2146581303
|
|
NM_006306.4(SMC1A):c.3568A>C (p.Lys1190Gln)
|
rs1057524798
|
|
NM_006306.4(SMC1A):c.357G>A (p.Glu119=)
|
|
|
NM_006306.4(SMC1A):c.3591C>G (p.Ala1197=)
|
rs146216425
|
|
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys)
|
rs782175064
|
|
NM_006306.4(SMC1A):c.3592G>C (p.Glu1198Gln)
|
rs782175064
|
|
NM_006306.4(SMC1A):c.3621A>G (p.Gln1207=)
|
rs2146581022
|
|
NM_006306.4(SMC1A):c.3625G>A (p.Asp1209Asn)
|
|
|
NM_006306.4(SMC1A):c.3651C>T (p.Thr1217=)
|
rs2146581010
|
|
NM_006306.4(SMC1A):c.3652_3663del (p.Phe1218_Thr1221del)
|
rs1569351341
|
|
NM_006306.4(SMC1A):c.3655G>A (p.Asp1219Asn)
|
|
|
NM_006306.4(SMC1A):c.3655_3656insCCG (p.Phe1218_Asp1219insAla)
|
rs2075576498
|
|
NM_006306.4(SMC1A):c.3660C>T (p.Leu1220=)
|
rs1348100944
|
|
NM_006306.4(SMC1A):c.3661A>G (p.Thr1221Ala)
|
rs2146580992
|
|
NM_006306.4(SMC1A):c.3663C>G (p.Thr1221=)
|
rs28997583
|
|
NM_006306.4(SMC1A):c.3663C>T (p.Thr1221=)
|
rs28997583
|
|
NM_006306.4(SMC1A):c.3687C>T (p.Asn1229=)
|
|
|
NM_006306.4(SMC1A):c.371T>A (p.Leu124Ter)
|
|
|
NM_006306.4(SMC1A):c.374del (p.Gly125fs)
|
|
|
NM_006306.4(SMC1A):c.378T>A (p.Ile126=)
|
|
|
NM_006306.4(SMC1A):c.37A>C (p.Lys13Gln)
|
rs2075764777
|
|
NM_006306.4(SMC1A):c.391C>T (p.Arg131Cys)
|
|
|
NM_006306.4(SMC1A):c.392del (p.Arg131fs)
|
rs2075725850
|
|
NM_006306.4(SMC1A):c.397T>G (p.Phe133Val)
|
rs2075725792
|
|
NM_006306.4(SMC1A):c.399C>T (p.Phe133=)
|
rs1463042305
|
|
NM_006306.4(SMC1A):c.411+1G>C
|
rs2146606502
|
|
NM_006306.4(SMC1A):c.412-12G>T
|
|
|
NM_006306.4(SMC1A):c.412-7T>C
|
|
|
NM_006306.4(SMC1A):c.412-9C>T
|
|
|
NM_006306.4(SMC1A):c.421G>A (p.Glu141Lys)
|
rs587784420
|
|
NM_006306.4(SMC1A):c.428T>G (p.Ile143Ser)
|
rs2146605688
|
|
NM_006306.4(SMC1A):c.441C>T (p.Asn147=)
|
|
|
NM_006306.4(SMC1A):c.444C>G (p.Pro148=)
|
|
|
NM_006306.4(SMC1A):c.452G>A (p.Arg151Lys)
|
rs2075720794
|
|
NM_006306.4(SMC1A):c.462A>G (p.Leu154=)
|
rs2146605662
|
|
NM_006306.4(SMC1A):c.474T>C (p.Ile158=)
|
|
|
NM_006306.4(SMC1A):c.479G>A (p.Arg160His)
|
|
|
NM_006306.4(SMC1A):c.481del (p.Ser161fs)
|
rs2146605644
|
|
NM_006306.4(SMC1A):c.483T>C (p.Ser161=)
|
rs782286610
|
|
NM_006306.4(SMC1A):c.489G>A (p.Glu163=)
|
|
|
NM_006306.4(SMC1A):c.497A>G (p.Gln166Arg)
|
rs2146605622
|
|
NM_006306.4(SMC1A):c.4G>C (p.Gly2Arg)
|
|
|
NM_006306.4(SMC1A):c.511C>T (p.Arg171Ter)
|
|
|
NM_006306.4(SMC1A):c.512G>A (p.Arg171Gln)
|
rs2075720519
|
|
NM_006306.4(SMC1A):c.526G>A (p.Val176Met)
|
|
|
NM_006306.4(SMC1A):c.528G>A (p.Val176=)
|
rs1359837999
|
|
NM_006306.4(SMC1A):c.52C>T (p.Arg18Ter)
|
|
|
NM_006306.4(SMC1A):c.547C>T (p.Gln183Ter)
|
rs587784421
|
|
NM_006306.4(SMC1A):c.547_548del (p.Gln183fs)
|
rs2146605568
|
|
NM_006306.4(SMC1A):c.562C>T (p.Arg188Cys)
|
rs2146605558
|
|
NM_006306.4(SMC1A):c.578C>T (p.Ala193Val)
|
|
|
NM_006306.4(SMC1A):c.582T>C (p.Ala194=)
|
|
|
NM_006306.4(SMC1A):c.583G>T (p.Glu195Ter)
|
rs1602413582
|
|
NM_006306.4(SMC1A):c.586C>G (p.Arg196Gly)
|
rs587784422
|
|
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys)
|
rs587784422
|
|
NM_006306.4(SMC1A):c.587G>A (p.Arg196His)
|
rs1556890815
|
|
NM_006306.4(SMC1A):c.615+14C>T
|
|
|
NM_006306.4(SMC1A):c.615+2T>C
|
rs868985177
|
|
NM_006306.4(SMC1A):c.615+8G>A
|
|
|
NM_006306.4(SMC1A):c.616-19C>T
|
|
|
NM_006306.4(SMC1A):c.616-2A>G
|
rs587784423
|
|
NM_006306.4(SMC1A):c.616-4A>G
|
|
|
NM_006306.4(SMC1A):c.616-6G>A
|
rs587784424
|
|
NM_006306.4(SMC1A):c.616-7del
|
rs1312306004
|
|
NM_006306.4(SMC1A):c.622C>G (p.Arg208Gly)
|
rs1057520375
|
|
NM_006306.4(SMC1A):c.628C>T (p.Gln210Ter)
|
rs2146605443
|
|
NM_006306.4(SMC1A):c.641A>G (p.Asp214Gly)
|
|
|
NM_006306.4(SMC1A):c.653G>A (p.Arg218Gln)
|
|
|
NM_006306.4(SMC1A):c.655del (p.Ala219fs)
|
rs1569359048
|
|
NM_006306.4(SMC1A):c.666G>A (p.Gln222=)
|
rs2146605417
|
|
NM_006306.4(SMC1A):c.669G>C (p.Leu223=)
|
rs1556890780
|
|
NM_006306.4(SMC1A):c.678T>C (p.Phe226=)
|
rs2146605400
|
|
NM_006306.4(SMC1A):c.732A>G (p.Ser244=)
|
rs1193851590
|
|
NM_006306.4(SMC1A):c.733_734del (p.Lys245fs)
|
rs2146605369
|
|
NM_006306.4(SMC1A):c.738C>A (p.Asn246Lys)
|
|
|
NM_006306.4(SMC1A):c.739A>G (p.Lys247Glu)
|
|
|
NM_006306.4(SMC1A):c.744_755del (p.Glu248_Lys251del)
|
rs2146605357
|
|
NM_006306.4(SMC1A):c.756C>G (p.Asp252Glu)
|
rs370671274
|
|
NM_006306.4(SMC1A):c.761del (p.Lys254fs)
|
rs2146605339
|
|
NM_006306.4(SMC1A):c.764G>C (p.Arg255Pro)
|
|
|
NM_006306.4(SMC1A):c.773A>G (p.Lys258Arg)
|
|
|
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del)
|
rs727503773
|
|
NM_006306.4(SMC1A):c.800A>G (p.Lys267Arg)
|
|
|
NM_006306.4(SMC1A):c.812G>A (p.Gly271Asp)
|
rs2146605306
|
|
NM_006306.4(SMC1A):c.813C>A (p.Gly271=)
|
|
|
NM_006306.4(SMC1A):c.813C>T (p.Gly271=)
|
|
|
NM_006306.4(SMC1A):c.81C>T (p.Phe27=)
|
rs2075764568
|
|
NM_006306.4(SMC1A):c.824G>A (p.Arg275Gln)
|
|
|
NM_006306.4(SMC1A):c.854+6_854+7del
|
rs1569358983
|
|
NM_006306.4(SMC1A):c.855-12C>T
|
|
|
NM_006306.4(SMC1A):c.855-14C>T
|
|
|
NM_006306.4(SMC1A):c.855-17C>T
|
|
|
NM_006306.4(SMC1A):c.855-1G>A
|
|
|
NM_006306.4(SMC1A):c.859_861del (p.Lys287del)
|
rs1556890626
|
|
NM_006306.4(SMC1A):c.867A>G (p.Ser289=)
|
rs2146604827
|
|
NM_006306.4(SMC1A):c.909G>C (p.Glu303Asp)
|
|
|
NM_006306.4(SMC1A):c.917C>A (p.Ser306Tyr)
|
rs2146604807
|
|
NM_006306.4(SMC1A):c.920A>G (p.His307Arg)
|
rs1556890616
|
|
NM_006306.4(SMC1A):c.937G>A (p.Glu313Lys)
|
|
|
NM_006306.4(SMC1A):c.947A>G (p.Lys316Arg)
|
|
|
NM_006306.4(SMC1A):c.951G>A (p.Lys317=)
|
rs2146604793
|
|
NM_006306.4(SMC1A):c.955_956del (p.Leu319fs)
|
|
|
NM_006306.4(SMC1A):c.95G>A (p.Gly32Glu)
|
rs1556892359
|
|
NM_006306.4(SMC1A):c.970A>G (p.Lys324Glu)
|
|
|
NM_006306.4(SMC1A):c.972G>A (p.Lys324=)
|
|
|
NM_006306.4(SMC1A):c.977A>T (p.Tyr326Phe)
|
|
|
NM_006306.4(SMC1A):c.986G>C (p.Arg329Pro)
|
rs782449052
|
|
SMC1A, 8.152-KB DEL
|
|
|