NM_001374828.1(ARID1B):c.1987-29738G>T
|
rs201653711
|
0.00003
|
NM_003073.5(SMARCB1):c.1130G>A (p.Arg377His)
|
rs387906812
|
0.00001
|
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn
|
|
|
GRCh37/hg19 12q12(chr12:46150008-46321670)x1
|
|
|
GRCh37/hg19 12q12(chr12:46168172-46304719)x1
|
|
|
GRCh37/hg19 6q25.3(chr6:156858484-157854806)
|
|
|
GRCh37/hg19 6q25.3(chr6:157133792-157495187)
|
|
|
GRCh37/hg19 6q25.3(chr6:157341357-157455697)
|
|
|
GRCh37/hg19 6q25.3(chr6:157377242-157431665)
|
|
|
GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1
|
|
|
GRCh38/hg38 6q25.3(chr6:157036218-157111403)x1
|
|
|
NC_000012.11:g.46125066_46230365del
|
|
|
NC_000012.12:g.45690000_45750000del
|
|
|
NM_001374828.1(ARID1B):c.1293_1308del (p.Gly434fs)
|
|
|
NM_001374828.1(ARID1B):c.1293_1311del (p.Gly434fs)
|
rs943407609
|
|
NM_001374828.1(ARID1B):c.1451dup (p.Phe485fs)
|
rs1554248082
|
|
NM_001374828.1(ARID1B):c.1492del (p.Ala498fs)
|
rs1417035592
|
|
NM_001374828.1(ARID1B):c.1560C>G (p.Tyr520Ter)
|
rs2114999746
|
|
NM_001374828.1(ARID1B):c.1574del (p.Ser525fs)
|
rs2115000174
|
|
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs)
|
rs1779004027
|
|
NM_001374828.1(ARID1B):c.1638_1647del (p.Ala547fs)
|
rs1131691339
|
|
NM_001374828.1(ARID1B):c.1641_1651del (p.Gln550fs)
|
rs1131691706
|
|
NM_001374828.1(ARID1B):c.1648C>T (p.Gln550Ter)
|
|
|
NM_001374828.1(ARID1B):c.1649_1659del (p.Gln550fs)
|
rs1085307818
|
|
NM_001374828.1(ARID1B):c.1732C>T (p.Gln578Ter)
|
rs1554248236
|
|
NM_001374828.1(ARID1B):c.1767del (p.Gly590fs)
|
rs1289149988
|
|
NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter)
|
rs1057518951
|
|
NM_001374828.1(ARID1B):c.1867C>T (p.Gln623Ter)
|
rs1554256703
|
|
NM_001374828.1(ARID1B):c.1870C>T (p.Gln624Ter)
|
rs754167205
|
|
NM_001374828.1(ARID1B):c.1940del (p.Gly647fs)
|
|
|
NM_001374828.1(ARID1B):c.2038C>T (p.Gln680Ter)
|
rs1554265271
|
|
NM_001374828.1(ARID1B):c.2051dup (p.Tyr684Ter)
|
rs1554265275
|
|
NM_001374828.1(ARID1B):c.2058del (p.Gln686fs)
|
rs2128210848
|
|
NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter)
|
rs1554265316
|
|
NM_001374828.1(ARID1B):c.2109dup (p.Ser704fs)
|
rs1554265319
|
|
NM_001374828.1(ARID1B):c.2113C>T (p.Gln705Ter)
|
rs387907142
|
|
NM_001374828.1(ARID1B):c.2170C>T (p.Gln724Ter)
|
rs1554270809
|
|
NM_001374828.1(ARID1B):c.2221_2222dup (p.Gln741fs)
|
|
|
NM_001374828.1(ARID1B):c.2248-2A>G
|
rs2128462015
|
|
NM_001374828.1(ARID1B):c.2287G>T (p.Glu763Ter)
|
rs1554294593
|
|
NM_001374828.1(ARID1B):c.2359C>T (p.Gln787Ter)
|
rs753933273
|
|
NM_001374828.1(ARID1B):c.2400del (p.Ser800fs)
|
rs1583280152
|
|
NM_001374828.1(ARID1B):c.2411dup (p.Ser806fs)
|
rs1554294674
|
|
NM_001374828.1(ARID1B):c.2452C>T (p.Gln818Ter)
|
rs869312712
|
|
NM_001374828.1(ARID1B):c.2458C>T (p.Arg820Ter)
|
rs797045272
|
|
NM_001374828.1(ARID1B):c.2468dup (p.Ile824fs)
|
rs1554294698
|
|
NM_001374828.1(ARID1B):c.2572C>T (p.Gln858Ter)
|
rs1554298232
|
|
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs)
|
rs1085307695
|
|
NM_001374828.1(ARID1B):c.2675dup (p.Gln893fs)
|
rs1554301230
|
|
NM_001374828.1(ARID1B):c.2677dup (p.Gln893fs)
|
rs1583368813
|
|
NM_001374828.1(ARID1B):c.2762G>T (p.Gly921Val)
|
rs2128633891
|
|
NM_001374828.1(ARID1B):c.2773A>T (p.Arg925Ter)
|
rs1554226001
|
|
NM_001374828.1(ARID1B):c.2851C>T (p.Gln951Ter)
|
|
|
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter)
|
rs794727977
|
|
NM_001374828.1(ARID1B):c.3061C>T (p.Gln1021Ter)
|
|
|
NM_001374828.1(ARID1B):c.3101del (p.Phe1034fs)
|
rs2128290268
|
|
NM_001374828.1(ARID1B):c.3126del (p.Met1043fs)
|
rs1791374798
|
|
NM_001374828.1(ARID1B):c.3163_3167dup (p.Ser1056fs)
|
|
|
NM_001374828.1(ARID1B):c.3230_3235+7del
|
rs1583438967
|
|
NM_001374828.1(ARID1B):c.3235+2T>A
|
|
|
NM_001374828.1(ARID1B):c.3247_3248del (p.Leu1083fs)
|
rs2128303803
|
|
NM_001374828.1(ARID1B):c.3261del (p.Met1087fs)
|
|
|
NM_001374828.1(ARID1B):c.3277A>T (p.Lys1093Ter)
|
rs902091666
|
|
NM_001374828.1(ARID1B):c.3312dup (p.Glu1105fs)
|
rs1791918216
|
|
NM_001374828.1(ARID1B):c.3345G>A (p.Lys1115=)
|
rs1583451360
|
|
NM_001374828.1(ARID1B):c.3345G>C (p.Lys1115Asn)
|
rs1583451360
|
|
NM_001374828.1(ARID1B):c.3532del (p.Glu1178fs)
|
|
|
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter)
|
rs387907144
|
|
NM_001374828.1(ARID1B):c.3597C>G (p.Tyr1199Ter)
|
rs1562328526
|
|
NM_001374828.1(ARID1B):c.3673C>T (p.Arg1225Ter)
|
rs387907141
|
|
NM_001374828.1(ARID1B):c.3692_3693del (p.Lys1231fs)
|
rs876657380
|
|
NM_001374828.1(ARID1B):c.3714+1G>A
|
rs1554231278
|
|
NM_001374828.1(ARID1B):c.3714+2T>G
|
rs1404726383
|
|
NM_001374828.1(ARID1B):c.3799C>T (p.Gln1267Ter)
|
rs1554231836
|
|
NM_001374828.1(ARID1B):c.3813C>G (p.Tyr1271Ter)
|
|
|
NM_001374828.1(ARID1B):c.3819del (p.Phe1273fs)
|
rs1554231845
|
|
NM_001374828.1(ARID1B):c.3827del (p.Glu1276fs)
|
rs2128325440
|
|
NM_001374828.1(ARID1B):c.3904C>T (p.Gln1302Ter)
|
rs1554231904
|
|
NM_001374828.1(ARID1B):c.3917del (p.Pro1306fs)
|
rs1562331655
|
|
NM_001374828.1(ARID1B):c.3937C>T (p.Gln1313Ter)
|
rs1554232919
|
|
NM_001374828.1(ARID1B):c.3946C>T (p.Gln1316Ter)
|
rs1554232925
|
|
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)
|
rs1289067120
|
|
NM_001374828.1(ARID1B):c.4001dup (p.Pro1335fs)
|
rs1554232959
|
|
NM_001374828.1(ARID1B):c.4058+1G>C
|
rs1057518691
|
|
NM_001374828.1(ARID1B):c.4106C>A (p.Ser1369Ter)
|
rs772973856
|
|
NM_001374828.1(ARID1B):c.4147_4149delinsAG (p.Tyr1383fs)
|
rs1554233122
|
|
NM_001374828.1(ARID1B):c.4150C>T (p.Gln1384Ter)
|
rs1182325800
|
|
NM_001374828.1(ARID1B):c.4215del (p.Phe1405fs)
|
rs2128339990
|
|
NM_001374828.1(ARID1B):c.4263del (p.Gly1422fs)
|
rs1583491381
|
|
NM_001374828.1(ARID1B):c.4267C>T (p.Gln1423Ter)
|
rs1554234341
|
|
NM_001374828.1(ARID1B):c.4288C>T (p.Gln1430Ter)
|
rs387907140
|
|
NM_001374828.1(ARID1B):c.4299C>A (p.Tyr1433Ter)
|
rs1583491515
|
|
NM_001374828.1(ARID1B):c.4378C>T (p.Arg1460Ter)
|
rs773740590
|
|
NM_001374828.1(ARID1B):c.4383-1G>A
|
rs886044620
|
|
NM_001374828.1(ARID1B):c.4395del (p.Pro1464_Tyr1465insTer)
|
|
|
NM_001374828.1(ARID1B):c.4400dup (p.Gln1468fs)
|
|
|
NM_001374828.1(ARID1B):c.4407T>A (p.Tyr1469Ter)
|
rs748363079
|
|
NM_001374828.1(ARID1B):c.4478del (p.Pro1493fs)
|
rs2128366725
|
|
NM_001374828.1(ARID1B):c.4479+1G>T
|
rs1554235041
|
|
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)
|
rs797045277
|
|
NM_001374828.1(ARID1B):c.4488del (p.Lys1496fs)
|
|
|
NM_001374828.1(ARID1B):c.4509C>G (p.Tyr1503Ter)
|
rs377021700
|
|
NM_001374828.1(ARID1B):c.4522A>T (p.Lys1508Ter)
|
rs1554235505
|
|
NM_001374828.1(ARID1B):c.4552C>T (p.Gln1518Ter)
|
rs1554235541
|
|
NM_001374828.1(ARID1B):c.4642dup (p.Tyr1548fs)
|
rs879253746
|
|
NM_001374828.1(ARID1B):c.4663_4670dup (p.Pro1558fs)
|
rs1794053879
|
|
NM_001374828.1(ARID1B):c.4794C>G (p.Tyr1598Ter)
|
rs1562345819
|
|
NM_001374828.1(ARID1B):c.4804C>T (p.Gln1602Ter)
|
|
|
NM_001374828.1(ARID1B):c.4870dup (p.Val1624fs)
|
rs2128374526
|
|
NM_001374828.1(ARID1B):c.4905G>A (p.Trp1635Ter)
|
rs1554235834
|
|
NM_001374828.1(ARID1B):c.4911dup (p.His1638fs)
|
|
|
NM_001374828.1(ARID1B):c.4921C>T (p.Gln1641Ter)
|
rs1554235841
|
|
NM_001374828.1(ARID1B):c.4968_4969del (p.Arg1657fs)
|
|
|
NM_001374828.1(ARID1B):c.4991_5000del (p.Gln1664fs)
|
rs876657382
|
|
NM_001374828.1(ARID1B):c.5189_5194delinsAGGCT (p.Thr1730fs)
|
|
|
NM_001374828.1(ARID1B):c.5218C>T (p.Gln1740Ter)
|
rs1554236027
|
|
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter)
|
rs1554236040
|
|
NM_001374828.1(ARID1B):c.5258del (p.Asp1753fs)
|
rs1562347066
|
|
NM_001374828.1(ARID1B):c.5263+1G>T
|
rs2128377544
|
|
NM_001374828.1(ARID1B):c.5281dup (p.Arg1761fs)
|
rs1794276185
|
|
NM_001374828.1(ARID1B):c.5365del (p.Ser1789fs)
|
rs2128385522
|
|
NM_001374828.1(ARID1B):c.5425dup (p.Tyr1809fs)
|
rs797045279
|
|
NM_001374828.1(ARID1B):c.5496del (p.Ala1833fs)
|
|
|
NM_001374828.1(ARID1B):c.5520del (p.Lys1841fs)
|
rs797045280
|
|
NM_001374828.1(ARID1B):c.5522del (p.Lys1841fs)
|
rs797045281
|
|
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs)
|
rs1583513256
|
|
NM_001374828.1(ARID1B):c.5698A>T (p.Lys1900Ter)
|
rs387907143
|
|
NM_001374828.1(ARID1B):c.5707C>T (p.Gln1903Ter)
|
rs750447037
|
|
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs)
|
rs1554237269
|
|
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter)
|
rs797045282
|
|
NM_001374828.1(ARID1B):c.5826G>A (p.Trp1942Ter)
|
rs1554237335
|
|
NM_001374828.1(ARID1B):c.5867_5872delinsC (p.His1956fs)
|
|
|
NM_001374828.1(ARID1B):c.5916dup (p.Ser1974fs)
|
rs35441529
|
|
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs)
|
rs886041706
|
|
NM_001374828.1(ARID1B):c.6001del (p.Asp2001fs)
|
rs876657381
|
|
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs)
|
rs1794490994
|
|
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter)
|
rs886041878
|
|
NM_001374828.1(ARID1B):c.6094del (p.Gln2032fs)
|
rs2128394676
|
|
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter)
|
rs1554237658
|
|
NM_001374828.1(ARID1B):c.6199C>T (p.Arg2067Ter)
|
rs1028186690
|
|
NM_001374828.1(ARID1B):c.6236C>G (p.Ser2079Ter)
|
rs2128395778
|
|
NM_001374828.1(ARID1B):c.6334_6335del (p.Lys2112fs)
|
rs1554237785
|
|
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)
|
rs797045283
|
|
NM_001374828.1(ARID1B):c.6377dup (p.Val2128fs)
|
rs2128396622
|
|
NM_001374828.1(ARID1B):c.6410G>A (p.Trp2137Ter)
|
rs1554237850
|
|
NM_001374828.1(ARID1B):c.6469C>T (p.Gln2157Ter)
|
rs869312697
|
|
NM_001374828.1(ARID1B):c.6497dup (p.Ser2166fs)
|
rs2128397334
|
|
NM_001374828.1(ARID1B):c.6608_6609del (p.Arg2203fs)
|
rs1794549840
|
|
NM_001374828.1(ARID1B):c.6623_6650dup (p.Asn2217_Asn2218insProLeuTer)
|
rs1554237992
|
|
NM_001374828.1(ARID1B):c.6624_6625del (p.Leu2209_Cys2210insTer)
|
rs886040958
|
|
NM_001374828.1(ARID1B):c.6691C>T (p.Gln2231Ter)
|
rs1554238035
|
|
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter)
|
rs1554238072
|
|
NM_001374828.1(ARID1B):c.6762del (p.Met2255fs)
|
|
|
NM_001374828.1(ARID1B):c.6773dup (p.Leu2258fs)
|
|
|
NM_001374828.1(ARID1B):c.6832_6842del (p.Ser2278fs)
|
rs876657379
|
|
NM_001374828.1(ARID1B):c.6880C>T (p.Gln2294Ter)
|
|
|
NM_001374828.1(ARID1B):c.6896del (p.Gln2299fs)
|
rs1583518354
|
|
NM_001374828.1(ARID1B):c.6898dup (p.His2300fs)
|
rs1794570475
|
|
NM_001374828.1(ARID1B):c.6924del (p.Leu2310fs)
|
|
|
NM_001374828.1(ARID1B):c.6935del (p.Pro2312fs)
|
rs2128399165
|
|
NM_001374828.1(ARID1B):c.7052C>G (p.Ser2351Ter)
|
rs1794583960
|
|
NM_001374828.1(ARID1B):c.7069del (p.Leu2357fs)
|
rs1562355401
|
|
NM_003072.5(SMARCA4):c.1633AAG[1] (p.Lys546del)
|
rs876657378
|
|
NM_003072.5(SMARCA4):c.1675G>A (p.Glu559Lys)
|
rs1600082188
|
|
NM_003072.5(SMARCA4):c.2475G>T (p.Trp825Cys)
|
rs2146360458
|
|
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met)
|
rs281875226
|
|
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys)
|
rs281875227
|
|
NM_003072.5(SMARCA4):c.2683C>T (p.Gln895Ter)
|
rs2146417384
|
|
NM_003072.5(SMARCA4):c.2761C>T (p.Leu921Phe)
|
rs281875228
|
|
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg)
|
rs1060499936
|
|
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
|
|
|
NM_003072.5(SMARCA4):c.3032T>C (p.Met1011Thr)
|
rs281875229
|
|
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp)
|
rs770014321
|
|
NM_003072.5(SMARCA4):c.3469C>G (p.Arg1157Gly)
|
rs281875230
|
|
NM_003072.5(SMARCA4):c.4171-1789C>T
|
rs2075455200
|
|
NM_003073.5(SMARCB1):c.1066_1067del (p.Leu356fs)
|
rs1555881563
|
|
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)
|
rs875989800
|
|
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu)
|
rs797045989
|
|
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His)
|
rs398122368
|
|
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)
|
rs1057517825
|
|
NM_003079.5(SMARCE1):c.218A>C (p.Tyr73Ser)
|
rs387906857
|
|
NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys)
|
rs387906857
|
|
NM_003079.5(SMARCE1):c.237+1G>T
|
rs1426841589
|
|
NM_003108.4(SOX11):c.1286G>A (p.Trp429Ter)
|
rs1057518672
|
|
NM_003108.4(SOX11):c.139G>A (p.Gly47Ser)
|
|
|
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
|
|
|
NM_003108.4(SOX11):c.148A>C (p.Lys50Gln)
|
|
|
NM_003108.4(SOX11):c.150G>C (p.Lys50Asn)
|
|
|
NM_003108.4(SOX11):c.170T>C (p.Met57Thr)
|
rs2103276340
|
|
NM_003108.4(SOX11):c.176G>A (p.Trp59Ter)
|
|
|
NM_003108.4(SOX11):c.178T>C (p.Ser60Pro)
|
rs587777480
|
|
NM_003108.4(SOX11):c.226A>G (p.Asn76Asp)
|
rs1665660543
|
|
NM_003108.4(SOX11):c.250G>C (p.Gly84Arg)
|
|
|
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro)
|
rs1064794628
|
|
NM_003108.4(SOX11):c.337T>C (p.Tyr113His)
|
|
|
NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys)
|
rs587777479
|
|
NM_003108.4(SOX11):c.353A>C (p.Tyr118Ser)
|
rs1572216329
|
|
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter)
|
rs780122780
|
|
NM_003108.4(SOX11):c.791C>A (p.Ser264Ter)
|
rs1553327954
|
|
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)
|
|
|
NM_003108.4(SOX11):c.87C>A (p.Cys29Ter)
|
|
|
NM_006015.6(ARID1A):c.1015del (p.Ala339fs)
|
|
|
NM_006015.6(ARID1A):c.1113del (p.Gln372fs)
|
rs875989848
|
|
NM_006015.6(ARID1A):c.1348C>T (p.Gln450Ter)
|
rs1557591264
|
|
NM_006015.6(ARID1A):c.1602C>A (p.Tyr534Ter)
|
rs781090386
|
|
NM_006015.6(ARID1A):c.1642C>T (p.Gln548Ter)
|
rs2124789497
|
|
NM_006015.6(ARID1A):c.1850C>A (p.Ser617Ter)
|
rs2124792461
|
|
NM_006015.6(ARID1A):c.2122C>T (p.Gln708Ter)
|
rs2124056600
|
|
NM_006015.6(ARID1A):c.2758C>T (p.Gln920Ter)
|
rs387906845
|
|
NM_006015.6(ARID1A):c.2879-1G>A
|
rs1570607996
|
|
NM_006015.6(ARID1A):c.3058A>T (p.Arg1020Trp)
|
rs2124086560
|
|
NM_006015.6(ARID1A):c.3196C>T (p.Gln1066Ter)
|
rs2081053546
|
|
NM_006015.6(ARID1A):c.31_56del (p.Ser11fs)
|
rs797045262
|
|
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu)
|
rs1030084592
|
|
NM_006015.6(ARID1A):c.3679G>T (p.Glu1227Ter)
|
rs875989849
|
|
NM_006015.6(ARID1A):c.394del (p.Val132fs)
|
rs797045263
|
|
NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter)
|
rs387906846
|
|
NM_006015.6(ARID1A):c.4087C>T (p.Gln1363Ter)
|
|
|
NM_006015.6(ARID1A):c.5164C>T (p.Arg1722Ter)
|
rs1485978447
|
|
NM_006015.6(ARID1A):c.5531G>A (p.Trp1844Ter)
|
rs2081169212
|
|
NM_006015.6(ARID1A):c.5693del (p.Pro1898fs)
|
rs1570621899
|
|
NM_006015.6(ARID1A):c.5940_6000del (p.Val1982fs)
|
rs2124144295
|
|
NM_006015.6(ARID1A):c.5965C>T (p.Arg1989Ter)
|
rs879255270
|
|
NM_006015.6(ARID1A):c.6134_6138del (p.Lys2045fs)
|
rs1557620758
|
|
NM_006015.6(ARID1A):c.750_771dup (p.Ser258fs)
|
rs1557570794
|
|
NM_006015.6(ARID1A):c.921_940del (p.Tyr308fs)
|
rs1553146165
|
|
NM_006015.6(ARID1A):c.98_107del (p.Glu33fs)
|
rs2124740134
|
|
NM_006268.5(DPF2):c.827G>T (p.Cys276Phe)
|
rs1555031372
|
|
NM_152641.3:c.(705+1_706-1)_(1330+1_1331-1)del
|
|
|
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter)
|
rs796052242
|
|
NM_152641.4(ARID2):c.1121-1G>A
|
rs1943242602
|
|
NM_152641.4(ARID2):c.118dup (p.Val40fs)
|
rs2137959683
|
|
NM_152641.4(ARID2):c.1262_1265dup (p.Tyr423fs)
|
rs2138132429
|
|
NM_152641.4(ARID2):c.1331-1G>C
|
rs2138136386
|
|
NM_152641.4(ARID2):c.1334_1338del (p.Met445fs)
|
|
|
NM_152641.4(ARID2):c.156_157del (p.Arg53fs)
|
rs2137959875
|
|
NM_152641.4(ARID2):c.156del (p.Arg53fs)
|
rs1555139310
|
|
NM_152641.4(ARID2):c.1580+1G>A
|
rs2138150784
|
|
NM_152641.4(ARID2):c.1784_1785del (p.His595fs)
|
rs1943504725
|
|
NM_152641.4(ARID2):c.2114del (p.Ser705fs)
|
rs1592118927
|
|
NM_152641.4(ARID2):c.2377C>T (p.Gln793Ter)
|
rs2138162523
|
|
NM_152641.4(ARID2):c.2401_2402del (p.Met801fs)
|
rs2138162739
|
|
NM_152641.4(ARID2):c.2458C>T (p.Gln820Ter)
|
rs1343039962
|
|
NM_152641.4(ARID2):c.2521C>T (p.Gln841Ter)
|
rs1555154946
|
|
NM_152641.4(ARID2):c.2536del (p.Val846fs)
|
rs796052240
|
|
NM_152641.4(ARID2):c.2758C>T (p.Gln920Ter)
|
rs1555155026
|
|
NM_152641.4(ARID2):c.2767C>T (p.Gln923Ter)
|
|
|
NM_152641.4(ARID2):c.3301_3302insAGGT (p.Val1101fs)
|
rs2138170893
|
|
NM_152641.4(ARID2):c.3411_3412del (p.Gly1139fs)
|
rs1555155252
|
|
NM_152641.4(ARID2):c.3814C>T (p.Arg1272Ter)
|
rs2138174785
|
|
NM_152641.4(ARID2):c.400dup (p.Gln134fs)
|
rs2138082983
|
|
NM_152641.4(ARID2):c.4210dup (p.Gln1404fs)
|
rs2138177931
|
|
NM_152641.4(ARID2):c.4255_4256del (p.Pro1419fs)
|
rs2138178306
|
|
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter)
|
rs772995852
|
|
NM_152641.4(ARID2):c.4441del (p.His1481fs)
|
rs796052241
|
|
NM_152641.4(ARID2):c.4540_4541delinsGAA (p.Thr1514fs)
|
rs2138180455
|
|
NM_152641.4(ARID2):c.4640_4659del (p.Ala1547fs)
|
rs1943579551
|
|
NM_152641.4(ARID2):c.4732C>T (p.Gln1578Ter)
|
rs2138181920
|
|
NM_152641.4(ARID2):c.5026C>T (p.Gln1676Ter)
|
rs1944306056
|
|
NM_152641.4(ARID2):c.5346T>G (p.Tyr1782Ter)
|
rs1592145571
|
|
NM_152641.4(ARID2):c.675G>A (p.Trp225Ter)
|
|
|
NM_152641.4(ARID2):c.869_881del (p.Ala290fs)
|
|
|