ClinVar Miner

List of variants studied for Arthrogryposis multiplex congenita 6

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ClinVar version:
Total variants: 436
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.9124T>C (p.Cys3042Arg) rs6710212 0.97529
NM_001164508.2(NEB):c.294+52T>G rs4664499 0.85425
NM_001164508.2(NEB):c.3901T>C (p.Tyr1301His) rs6711382 0.81103
NM_001164508.2(NEB):c.402+101A>G rs4300824 0.78142
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69255
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68008
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.66332
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_001164508.2(NEB):c.24580-81A>G rs4664455 0.65048
NM_001164508.2(NEB):c.24766-18C>T rs2288195 0.64910
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_001164508.2(NEB):c.20158-42G>A rs2288201 0.63566
NM_001164508.2(NEB):c.1674+30T>G rs6433569 0.62430
NM_001164508.2(NEB):c.9363T>C (p.Pro3121=) rs6709886 0.62301
NM_001164508.2(NEB):c.21840+82A>G rs2288198 0.61992
NM_001164508.2(NEB):c.22162-108C>T rs2288196 0.59579
NM_001164508.2(NEB):c.22800+32C>T rs16830136 0.59551
NM_001164508.2(NEB):c.20368-57G>A rs4664486 0.59006
NM_001164508.2(NEB):c.20998-44A>C rs3732310 0.56531
NM_001164508.2(NEB):c.19731+103G>T rs4575719 0.55813
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_001164508.2(NEB):c.21522+78C>G rs60806638 0.55600
NM_001164508.2(NEB):c.10452+71T>C rs10186482 0.50955
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162 0.31314
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=) rs10170273 0.30371
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29833
NM_001164508.2(NEB):c.1675-67C>T rs10193188 0.29744
NM_001164508.2(NEB):c.5763+35T>C rs12620077 0.29408
NM_001164508.2(NEB):c.8160+84G>A rs4664494 0.29054
NM_001164508.2(NEB):c.19314+42C>T rs2288206 0.27894
NM_001164508.2(NEB):c.18366+78T>C rs7602715 0.27138
NM_001164508.2(NEB):c.5763+281G>A rs12616767 0.26661
NM_001164508.2(NEB):c.16705-18C>T rs61254943 0.26527
NM_001164508.2(NEB):c.16909-168C>T rs3771901 0.26318
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_001164508.2(NEB):c.24393+60A>C rs10497081 0.26227
NM_001164508.2(NEB):c.24874-47A>T rs2288193 0.26026
NM_001164508.2(NEB):c.25405-34T>C rs16830090 0.25362
NM_001164508.2(NEB):c.17535+90A>G rs3732312 0.24731
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
NM_001164508.2(NEB):c.18156+222T>A rs12052998 0.24703
NM_001164508.2(NEB):c.4611+70T>C rs58903550 0.20373
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_001164508.2(NEB):c.11289+99G>A rs62174707 0.19979
NM_001164508.2(NEB):c.5031+48A>G rs4664496 0.18844
NM_001164508.2(NEB):c.8161-118A>T rs35172004 0.18143
NM_001164508.2(NEB):c.3879+20G>T rs12618063 0.17493
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_001164508.2(NEB):c.7957-152C>T rs28375835 0.12498
NM_001164508.2(NEB):c.12018+29G>A rs11902616 0.11589
NM_001164508.2(NEB):c.2944-9G>A rs13427102 0.10205
NM_001164508.2(NEB):c.6184-14T>A rs10173335 0.09664
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392 0.04908
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=) rs34555492 0.01234
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu) rs35194393 0.00014
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg) rs200719359 0.00014
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp) rs546869744 0.00011
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_001164508.2(NEB):c.24114+1G>A rs755239192 0.00009
NM_001164508.2(NEB):c.2475C>T (p.Asp825=) rs180881237 0.00007
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter) rs1458048713 0.00006
NM_001164508.2(NEB):c.3255+1G>A rs375628303 0.00006
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp) rs533233215 0.00004
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter) rs200731870 0.00004
NM_001164508.2(NEB):c.18472-1G>C rs1203257517 0.00003
NM_001164508.2(NEB):c.19836+1G>A rs1446930968 0.00003
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter) rs749452641 0.00003
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284 0.00003
NM_001164508.2(NEB):c.22800+1G>A rs1302373559 0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter) rs754272530 0.00003
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219 0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977 0.00002
NM_001164508.2(NEB):c.11076+1G>A rs1460365350 0.00001
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364 0.00001
NM_001164508.2(NEB):c.1152+1G>A rs398124167 0.00001
NM_001164508.2(NEB):c.1153-2A>G rs1553609515 0.00001
NM_001164508.2(NEB):c.11719C>T (p.Gln3907Ter) rs377182240 0.00001
NM_001164508.2(NEB):c.12330+2T>C rs1374971806 0.00001
NM_001164508.2(NEB):c.1258-2A>G rs1553608621 0.00001
NM_001164508.2(NEB):c.12639+2dup rs2097758186 0.00001
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs) rs1490309743 0.00001
NM_001164508.2(NEB):c.1470+2dup rs1477702016 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter) rs539819851 0.00001
NM_001164508.2(NEB):c.18891+1G>A rs1443738549 0.00001
NM_001164508.2(NEB):c.19101+5G>A rs374929094 0.00001
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter) rs1553740233 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter) rs750900690 0.00001
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter) rs748922882 0.00001
NM_001164508.2(NEB):c.22375-1G>A rs949331605 0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001164508.2(NEB):c.22591-1G>C rs757157808 0.00001
NM_001164508.2(NEB):c.23127+2T>C rs112610938 0.00001
NM_001164508.2(NEB):c.23451+1G>T rs1011425121 0.00001
NM_001164508.2(NEB):c.24172C>T (p.Gln8058Ter) rs1323364980 0.00001
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs) rs1553552413 0.00001
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs) rs1257495033 0.00001
NM_001164508.2(NEB):c.24393+1G>A rs775631800 0.00001
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs) rs762133567 0.00001
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs) rs555445835 0.00001
NM_001164508.2(NEB):c.24946C>T (p.Arg8316Ter) rs758327681 0.00001
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs) rs1472403020 0.00001
NM_001164508.2(NEB):c.25266C>A (p.Tyr8422Ter) rs1433028646 0.00001
NM_001164508.2(NEB):c.25330C>T (p.Gln8444Ter) rs778104284 0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs) rs786204430 0.00001
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter) rs1553548666 0.00001
NM_001164508.2(NEB):c.294+2T>C rs773952935 0.00001
NM_001164508.2(NEB):c.2943+1G>A rs113091511 0.00001
NM_001164508.2(NEB):c.295-2A>G rs1428300892 0.00001
NM_001164508.2(NEB):c.3255+2dup rs1276026682 0.00001
NM_001164508.2(NEB):c.37-1G>A rs1428597732 0.00001
NM_001164508.2(NEB):c.3879+1G>A rs746999970 0.00001
NM_001164508.2(NEB):c.5344-1G>C rs1197561990 0.00001
NM_001164508.2(NEB):c.580C>T (p.Gln194Ter) rs1032240985 0.00001
NM_001164508.2(NEB):c.6076-1G>T rs1553469502 0.00001
NM_001164508.2(NEB):c.7228-1G>A rs1057516996 0.00001
NM_001164508.2(NEB):c.78+1G>A rs778593702 0.00001
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe) rs750548574 0.00001
NM_001164508.2(NEB):c.928-1G>A rs1162553327 0.00001
NM_001164508.2(NEB):c.9414+1G>T rs1255445731 0.00001
NM_001164508.2(NEB):c.10059C>A (p.Tyr3353Ter)
NM_001164508.2(NEB):c.10144-2A>G rs1435980710
NM_001164508.2(NEB):c.1015del (p.Ala339fs) rs2150017687
NM_001164508.2(NEB):c.10170G>A (p.Trp3390Ter)
NM_001164508.2(NEB):c.1036-1G>A
NM_001164508.2(NEB):c.10477G>T (p.Glu3493Ter)
NM_001164508.2(NEB):c.10560+1G>C
NM_001164508.2(NEB):c.1057G>T (p.Glu353Ter)
NM_001164508.2(NEB):c.10653_10654dup (p.Ile3552fs)
NM_001164508.2(NEB):c.1069G>T (p.Gly357Ter)
NM_001164508.2(NEB):c.10872+1G>T rs1336053002
NM_001164508.2(NEB):c.10872+27A>C rs10186656
NM_001164508.2(NEB):c.10898G>A (p.Trp3633Ter)
NM_001164508.2(NEB):c.11024dup (p.Asp3676fs) rs1560500587
NM_001164508.2(NEB):c.11118del (p.His3707fs)
NM_001164508.2(NEB):c.11289+1G>A
NM_001164508.2(NEB):c.11393del (p.Ile3798fs)
NM_001164508.2(NEB):c.1152+1G>T rs398124167
NM_001164508.2(NEB):c.1153-1_1153del
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter) rs1259297878
NM_001164508.2(NEB):c.11665G>T (p.Glu3889Ter)
NM_001164508.2(NEB):c.11806-1G>A rs886041851
NM_001164508.2(NEB):c.11911-2A>G
NM_001164508.2(NEB):c.12048_12049del (p.Lys4017fs) rs2153972327
NM_001164508.2(NEB):c.12055_12058dup (p.His4020fs)
NM_001164508.2(NEB):c.12065del (p.Gly4022fs)
NM_001164508.2(NEB):c.12182del (p.Pro4061fs) rs2097886912
NM_001164508.2(NEB):c.12220C>T (p.Gln4074Ter)
NM_001164508.2(NEB):c.12221dup (p.Thr4075fs) rs1553883480
NM_001164508.2(NEB):c.12330+5G>A rs763163879
NM_001164508.2(NEB):c.12394G>A (p.Glu4132Lys) rs2153960539
NM_001164508.2(NEB):c.1258A>T (p.Lys420Ter)
NM_001164508.2(NEB):c.12639+1G>A rs2097758221
NM_001164508.2(NEB):c.1264del (p.Tyr422fs)
NM_001164508.2(NEB):c.12808C>T (p.Gln4270Ter)
NM_001164508.2(NEB):c.1280T>A (p.Leu427Ter)
NM_001164508.2(NEB):c.12853C>T (p.Gln4285Ter)
NM_001164508.2(NEB):c.12996G>A (p.Trp4332Ter) rs2153939368
NM_001164508.2(NEB):c.13076_13085del (p.Asp4359fs)
NM_001164508.2(NEB):c.13099G>T (p.Gly4367Ter) rs1278785558
NM_001164508.2(NEB):c.13115dup (p.Ser4373fs)
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter) rs1212374733
NM_001164508.2(NEB):c.13173T>A (p.Tyr4391Ter) rs2153930733
NM_001164508.2(NEB):c.13252C>T (p.Gln4418Ter)
NM_001164508.2(NEB):c.133_146del (p.Ser45fs) rs1321522421
NM_001164508.2(NEB):c.1365+1G>A
NM_001164508.2(NEB):c.1395_1398dup (p.Gly467fs)
NM_001164508.2(NEB):c.14741G>A (p.Trp4914Ter)
NM_001164508.2(NEB):c.14786del (p.Leu4929fs)
NM_001164508.2(NEB):c.14794C>T (p.Gln4932Ter)
NM_001164508.2(NEB):c.14817dup (p.Ile4940fs)
NM_001164508.2(NEB):c.14871T>A (p.Tyr4957Ter)
NM_001164508.2(NEB):c.14911G>A (p.Ala4971Thr)
NM_001164508.2(NEB):c.1517_1518del (p.Thr506fs)
NM_001164508.2(NEB):c.1526del (p.Pro509fs) rs1181351466
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3]) rs377452683
NM_001164508.2(NEB):c.1569+1G>A rs1553605553
NM_001164508.2(NEB):c.16252C>T (p.Gln5418Ter)
NM_001164508.2(NEB):c.16273C>T (p.Gln5425Ter) rs1064796311
NM_001164508.2(NEB):c.16463del (p.Pro5488fs)
NM_001164508.2(NEB):c.16467dup (p.Leu5490fs)
NM_001164508.2(NEB):c.1674+1G>A rs750585238
NM_001164508.2(NEB):c.1674+2T>C rs1553603437
NM_001164508.2(NEB):c.16756C>T (p.Gln5586Ter)
NM_001164508.2(NEB):c.16809C>A (p.Asp5603Glu)
NM_001164508.2(NEB):c.168_171dup (p.Ala58fs)
NM_001164508.2(NEB):c.17310del (p.Asn5772fs)
NM_001164508.2(NEB):c.17362C>T (p.Gln5788Ter)
NM_001164508.2(NEB):c.17456G>A (p.Trp5819Ter)
NM_001164508.2(NEB):c.17457G>A (p.Trp5819Ter)
NM_001164508.2(NEB):c.17737-1G>A
NM_001164508.2(NEB):c.17756G>A (p.Trp5919Ter)
NM_001164508.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer) rs1553601066
NM_001164508.2(NEB):c.18157-2A>G rs925947627
NM_001164508.2(NEB):c.18211del (p.Asp6071fs) rs997878946
NM_001164508.2(NEB):c.18290_18294delinsGTATAC (p.Asn6097fs)
NM_001164508.2(NEB):c.18416C>T (p.Ser6139Leu) rs2153726853
NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs) rs747282057
NM_001164508.2(NEB):c.18585dup (p.Tyr6196fs)
NM_001164508.2(NEB):c.1871T>A (p.Leu624Ter)
NM_001164508.2(NEB):c.18751dup (p.Met6251fs)
NM_001164508.2(NEB):c.18786C>G (p.Tyr6262Ter) rs374874999
NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter) rs754369875
NM_001164508.2(NEB):c.18884dup (p.Leu6295fs)
NM_001164508.2(NEB):c.18981C>G (p.Tyr6327Ter) rs761964375
NM_001164508.2(NEB):c.19030C>T (p.Gln6344Ter) rs1559940778
NM_001164508.2(NEB):c.19102-1G>T rs2153702473
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter) rs2153702280
NM_001164508.2(NEB):c.1921A>T (p.Lys641Ter)
NM_001164508.2(NEB):c.19294C>T (p.Gln6432Ter) rs2153700128
NM_001164508.2(NEB):c.19635C>A (p.Tyr6545Ter) rs1335300113
NM_001164508.2(NEB):c.19653G>A (p.Trp6551Ter) rs2153657682
NM_001164508.2(NEB):c.19851T>A (p.Tyr6617Ter) rs2095359371
NM_001164508.2(NEB):c.20158-6A>G rs1553715636
NM_001164508.2(NEB):c.20213dup (p.Asp6738fs)
NM_001164508.2(NEB):c.20253del (p.Val6752fs)
NM_001164508.2(NEB):c.20290del (p.Met6764fs)
NM_001164508.2(NEB):c.20320_20323del (p.Thr6774fs)
NM_001164508.2(NEB):c.20441_20445dup (p.Arg6816fs)
NM_001164508.2(NEB):c.20551C>T (p.Gln6851Ter)
NM_001164508.2(NEB):c.20578-1G>C
NM_001164508.2(NEB):c.20659dup (p.Arg6887fs)
NM_001164508.2(NEB):c.2075_2076del (p.His692fs) rs2149163148
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
NM_001164508.2(NEB):c.21092_21093del (p.Thr7031fs)
NM_001164508.2(NEB):c.21153del (p.Tyr7052fs)
NM_001164508.2(NEB):c.21220G>T (p.Glu7074Ter)
NM_001164508.2(NEB):c.21302T>G (p.Leu7101Trp)
NM_001164508.2(NEB):c.21538del (p.Glu7180fs)
NM_001164508.2(NEB):c.21630+2T>C
NM_001164508.2(NEB):c.21714dup (p.Ala7239fs)
NM_001164508.2(NEB):c.21736-2A>G rs1389892619
NM_001164508.2(NEB):c.2178T>G (p.Tyr726Ter)
NM_001164508.2(NEB):c.21936_21940del (p.Ile7312fs)
NM_001164508.2(NEB):c.21957_21963del (p.Lys7319fs)
NM_001164508.2(NEB):c.22009C>T (p.Gln7337Ter)
NM_001164508.2(NEB):c.2204_2205del (p.Gln734_Cys735insTer)
NM_001164508.2(NEB):c.22051-2A>C
NM_001164508.2(NEB):c.22099del (p.Thr7367fs)
NM_001164508.2(NEB):c.2211+5G>A rs797045736
NM_001164508.2(NEB):c.2212-1G>A rs2149103521
NM_001164508.2(NEB):c.22138del (p.Glu7380fs) rs1235589246
NM_001164508.2(NEB):c.22161+18G>C rs6721666
NM_001164508.2(NEB):c.22215_22220delinsGC (p.Ile7405fs)
NM_001164508.2(NEB):c.22240_22241insTAGC (p.His7414fs)
NM_001164508.2(NEB):c.22272+1G>A
NM_001164508.2(NEB):c.22272+2_22272+3del rs2153447342
NM_001164508.2(NEB):c.22272+2dup rs773465809
NM_001164508.2(NEB):c.22375-1G>C
NM_001164508.2(NEB):c.22389del (p.Lys7464fs)
NM_001164508.2(NEB):c.22479G>C (p.Gln7493His) rs1474341248
NM_001164508.2(NEB):c.22597_22601del (p.Tyr7533fs)
NM_001164508.2(NEB):c.22613del (p.Lys7538fs)
NM_001164508.2(NEB):c.22695+1G>A
NM_001164508.2(NEB):c.22792_22793del (p.Gln7598fs)
NM_001164508.2(NEB):c.22880_22881del (p.Lys7627fs)
NM_001164508.2(NEB):c.22883_22884del (p.Glu7628fs)
NM_001164508.2(NEB):c.22891C>T (p.Gln7631Ter)
NM_001164508.2(NEB):c.22906-1G>C
NM_001164508.2(NEB):c.23116del (p.Ile7706fs)
NM_001164508.2(NEB):c.23127+2T>A
NM_001164508.2(NEB):c.23133_23144delinsG (p.Tyr7712fs) rs2153276539
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter) rs1575714905
NM_001164508.2(NEB):c.23149G>T (p.Glu7717Ter)
NM_001164508.2(NEB):c.2328del (p.Lys776fs)
NM_001164508.2(NEB):c.23347-2A>G
NM_001164508.2(NEB):c.23351dup (p.Tyr7785fs) rs1559360386
NM_001164508.2(NEB):c.23355C>G (p.Tyr7785Ter)
NM_001164508.2(NEB):c.23421_23422del (p.Arg7807fs) rs1553603400
NM_001164508.2(NEB):c.23451+1G>C rs1011425121
NM_001164508.2(NEB):c.23452-1G>A
NM_001164508.2(NEB):c.23496_23499del (p.Val7833fs) rs762780413
NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter) rs537560378
NM_001164508.2(NEB):c.23645_23646delinsCCGACCACTGTG (p.Ser7882fs)
NM_001164508.2(NEB):c.23650-2A>T
NM_001164508.2(NEB):c.23786dup (p.Thr7930fs) rs756612643
NM_001164508.2(NEB):c.23805_23806del (p.Arg7935fs) rs753192734
NM_001164508.2(NEB):c.23836-1G>A
NM_001164508.2(NEB):c.23848_23851dup (p.Asn7951fs) rs1559296376
NM_001164508.2(NEB):c.23878_23881dup (p.Thr7961fs)
NM_001164508.2(NEB):c.23939_23940del (p.Lys7980fs)
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs) rs756384471
NM_001164508.2(NEB):c.23967dup (p.Pro7990fs) rs2064466448
NM_001164508.2(NEB):c.23998_24001del (p.Leu8000fs) rs748550315
NM_001164508.2(NEB):c.23998_24001dup (p.Asn8001fs) rs748550315
NM_001164508.2(NEB):c.23998_24002dup (p.Gln8002fs) rs2064439011
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs) rs1553568357
NM_001164508.2(NEB):c.24022-1G>A rs1553561697
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs) rs772009599
NM_001164508.2(NEB):c.24051del (p.Ile8018fs) rs758105619
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs) rs2153020985
NM_001164508.2(NEB):c.24129_24130delinsTAGC (p.Glu8043fs)
NM_001164508.2(NEB):c.24131del (p.Asn8044fs)
NM_001164508.2(NEB):c.24166_24169dup (p.Met8057fs)
NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs) rs2061721973
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) rs781667543
NM_001164508.2(NEB):c.24248del (p.Pro8083fs)
NM_001164508.2(NEB):c.2424_2425del (p.Tyr808_Lys809delinsTer)
NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs) rs747564597
NM_001164508.2(NEB):c.24271_24274dup (p.Lys8092fs) rs1559217202
NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs) rs1553551748
NM_001164508.2(NEB):c.24282_24285del (p.Asn8094fs)
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs) rs1344099907
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs) rs934111355
NM_001164508.2(NEB):c.24358del (p.Glu8120fs)
NM_001164508.2(NEB):c.24361_24364dup (p.Val8122fs)
NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs) rs752582527
NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs) rs1553548207
NM_001164508.2(NEB):c.24370_24374dup (p.Gln8126fs)
NM_001164508.2(NEB):c.24503dup (p.Asn8168fs) rs2152876577
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs) rs755863625
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs) rs1553537512
NM_001164508.2(NEB):c.24579+1G>A
NM_001164508.2(NEB):c.24579+1G>C
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24579G>C (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24615dup (p.Thr8206fs)
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs) rs1357811155
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001164508.2(NEB):c.24687_24688del (p.Asn8230fs) rs1559154278
NM_001164508.2(NEB):c.24710_24731del (p.Thr8237fs) rs761067911
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs) rs776059611
NM_001164508.2(NEB):c.24772_24778delinsA (p.Tyr8258_Asp8260delinsAsn)
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter) rs767709270
NM_001164508.2(NEB):c.25057+1G>A rs1191429915
NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter) rs777232352
NM_001164508.2(NEB):c.25151-2A>G
NM_001164508.2(NEB):c.25158_25170del (p.Gln8387fs)
NM_001164508.2(NEB):c.25181C>A (p.Ser8394Ter) rs2055484249
NM_001164508.2(NEB):c.25276_25277del (p.Gly8426fs)
NM_001164508.2(NEB):c.25291_25292del (p.Ser8431fs)
NM_001164508.2(NEB):c.25404+1G>A
NM_001164508.2(NEB):c.25404+1G>T
NM_001164508.2(NEB):c.25405-1G>A
NM_001164508.2(NEB):c.25408_25409del (p.Ile8470fs)
NM_001164508.2(NEB):c.25426_25429dup (p.Tyr8477Ter) rs2152620357
NM_001164508.2(NEB):c.2647C>T (p.Arg883Ter) rs1333519240
NM_001164508.2(NEB):c.2783dup (p.Pro928_Asp929insTer)
NM_001164508.2(NEB):c.2836-2A>G rs1208297049
NM_001164508.2(NEB):c.288_290delinsAA (p.Phe96fs)
NM_001164508.2(NEB):c.3042+2T>G
NM_001164508.2(NEB):c.3123del (p.Val1042fs)
NM_001164508.2(NEB):c.3184A>T (p.Lys1062Ter)
NM_001164508.2(NEB):c.3252_3255+3del rs1559168230
NM_001164508.2(NEB):c.3255+1G>C rs375628303
NM_001164508.2(NEB):c.3384del (p.Asp1129fs) rs2099386045
NM_001164508.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer) rs1159756073
NM_001164508.2(NEB):c.3390T>G (p.Tyr1130Ter)
NM_001164508.2(NEB):c.3537_3540del (p.Ser1180fs)
NM_001164508.2(NEB):c.3541A>T (p.Lys1181Ter)
NM_001164508.2(NEB):c.3567+1G>C rs587780399
NM_001164508.2(NEB):c.3601A>T (p.Lys1201Ter) rs748453057
NM_001164508.2(NEB):c.3691del (p.His1231fs)
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001164508.2(NEB):c.3908dup (p.Leu1303fs)
NM_001164508.2(NEB):c.3987+1G>A rs780022652
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001164508.2(NEB):c.4022_4023dup (p.Lys1342fs)
NM_001164508.2(NEB):c.403-2A>G
NM_001164508.2(NEB):c.403-6_405del rs1553689774
NM_001164508.2(NEB):c.4048C>T (p.Gln1350Ter)
NM_001164508.2(NEB):c.4300-1G>C
NM_001164508.2(NEB):c.4346_4355del (p.Trp1449fs)
NM_001164508.2(NEB):c.4356del (p.Ile1452fs)
NM_001164508.2(NEB):c.4379del (p.Val1460fs)
NM_001164508.2(NEB):c.4506+1G>A rs112517981
NM_001164508.2(NEB):c.4623del (p.Ala1542fs) rs1559039815
NM_001164508.2(NEB):c.4842C>G (p.Tyr1614Ter) rs2154179061
NM_001164508.2(NEB):c.4853A>G (p.Tyr1618Cys) rs759773612
NM_001164508.2(NEB):c.4918_4922del (p.Ser1640fs)
NM_001164508.2(NEB):c.496_499del (p.Gln166fs) rs1340063197
NM_001164508.2(NEB):c.5136_5139del (p.Ser1712fs)
NM_001164508.2(NEB):c.5229dup (p.Met1744fs) rs2154176971
NM_001164508.2(NEB):c.528G>A (p.Trp176Ter)
NM_001164508.2(NEB):c.5292del (p.Asp1765fs)
NM_001164508.2(NEB):c.5364G>A (p.Trp1788Ter) rs201636991
NM_001164508.2(NEB):c.5422_5424delinsCT (p.Ala1808fs)
NM_001164508.2(NEB):c.5451+1G>A
NM_001164508.2(NEB):c.5457_5459delinsT (p.Lys1819fs)
NM_001164508.2(NEB):c.5523_5527del (p.Lys1842fs) rs2154172729
NM_001164508.2(NEB):c.5741dup (p.Asn1914fs)
NM_001164508.2(NEB):c.5907T>G (p.Tyr1969Ter)
NM_001164508.2(NEB):c.5976_5977dup (p.Tyr1993fs)
NM_001164508.2(NEB):c.5999dup (p.Asp2000fs)
NM_001164508.2(NEB):c.613-1G>A rs767693366
NM_001164508.2(NEB):c.6365del (p.Val2122fs)
NM_001164508.2(NEB):c.6496-1G>A
NM_001164508.2(NEB):c.6634C>T (p.Gln2212Ter)
NM_001164508.2(NEB):c.6690_6700del (p.His2230fs)
NM_001164508.2(NEB):c.6747del (p.His2249fs)
NM_001164508.2(NEB):c.6752_6753insATCA (p.Met2251fs)
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer) rs1180339426
NM_001164508.2(NEB):c.6818_6819dup (p.Leu2274fs)
NM_001164508.2(NEB):c.6824del (p.Gly2275fs) rs2099060040
NM_001164508.2(NEB):c.6947_6954del (p.Leu2316fs)
NM_001164508.2(NEB):c.6993del (p.Val2332fs) rs2099021112
NM_001164508.2(NEB):c.7093G>T (p.Gly2365Ter)
NM_001164508.2(NEB):c.717+1G>A rs1577833924
NM_001164508.2(NEB):c.7227+1G>A
NM_001164508.2(NEB):c.739del (p.Ala247fs) rs2150350376
NM_001164508.2(NEB):c.7431+1919_7536+374del
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs) rs878854368
NM_001164508.2(NEB):c.7543dup (p.Tyr2515fs)
NM_001164508.2(NEB):c.7546C>T (p.Arg2516Ter)
NM_001164508.2(NEB):c.7551_7558del (p.Met2517fs)
NM_001164508.2(NEB):c.771del (p.Asp258fs)
NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys) rs1389374032
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter) rs1057516676
NM_001164508.2(NEB):c.8276dup (p.Leu2760fs)
NM_001164508.2(NEB):c.8293del (p.Ala2765fs)
NM_001164508.2(NEB):c.8422del (p.Ala2808fs)
NM_001164508.2(NEB):c.8425C>T (p.Arg2809Ter) rs762881892
NM_001164508.2(NEB):c.843T>G (p.Tyr281Ter)
NM_001164508.2(NEB):c.8445dup (p.Lys2816fs)
NM_001164508.2(NEB):c.8516G>A (p.Trp2839Ter)
NM_001164508.2(NEB):c.8728del (p.Trp2910fs)
NM_001164508.2(NEB):c.8890-2A>G
NM_001164508.2(NEB):c.9102+1G>C rs143644938
NM_001164508.2(NEB):c.934del (p.Tyr312fs) rs2150020225
NM_001164508.2(NEB):c.935dup (p.Tyr312Ter)
NM_001164508.2(NEB):c.936C>G (p.Tyr312Ter)
NM_001164508.2(NEB):c.9414+1G>A rs1255445731
NM_001164508.2(NEB):c.9441G>A (p.Trp3147Ter)
NM_001164508.2(NEB):c.9449del (p.Gly3150fs)
NM_001164508.2(NEB):c.9709del (p.Ile3237fs)
NM_001164508.2(NEB):c.9775C>T (p.Arg3259Ter) rs1301228529
NM_001164508.2(NEB):c.9779del (p.Ser3260fs)
NM_001271208.1(NEB):c.7291G>A rs767302772

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