ClinVar Miner

List of variants studied for arthrogryposis multiplex congenita 6

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 616
Download table as spreadsheet
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.18113A>G (p.Asn6038Ser) rs16830236 0.01192
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile) rs34368668 0.01129
NM_001164508.2(NEB):c.16669A>G (p.Ile5557Val) rs113439353 0.00852
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00448
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234 0.00437
NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg) rs73967567 0.00393
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=) rs115631125 0.00354
NM_001164508.2(NEB):c.1675-9T>G rs75118047 0.00324
NM_001164508.2(NEB):c.19285G>A (p.Ala6429Thr) rs149752325 0.00181
NM_001164508.2(NEB):c.19286C>A (p.Ala6429Asp) rs139636644 0.00178
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) rs36105240 0.00148
NM_001164508.2(NEB):c.3987+11A>T rs116903097 0.00092
NM_001164508.2(NEB):c.9052G>A (p.Asp3018Asn) rs192098032 0.00081
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728 0.00066
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His) rs150874422 0.00055
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668 0.00054
NM_001164508.2(NEB):c.9139C>A (p.His3047Asn) rs147168910 0.00022
NM_001164508.2(NEB):c.21270G>T (p.Pro7090=) rs368887173 0.00016
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp) rs375164626 0.00016
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His) rs199584268 0.00015
NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg) rs368150737 0.00014
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.1550A>G (p.Asn517Ser) rs199710125 0.00013
NM_001164508.2(NEB):c.-114+3A>G rs772077208 0.00011
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp) rs546869744 0.00011
NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys) rs201758329 0.00011
NM_001164508.2(NEB):c.17462G>A (p.Arg5821His) rs773239926 0.00010
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys) rs374606967 0.00010
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr) rs751494785 0.00010
NM_001164508.2(NEB):c.11077C>T (p.Arg3693Cys) rs539139958 0.00009
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.19732-8C>T rs137934821 0.00007
NM_001164508.2(NEB):c.2475C>T (p.Asp825=) rs180881237 0.00007
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His) rs556930902 0.00006
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.5939T>C (p.Leu1980Ser) rs375412223 0.00006
NM_001164508.2(NEB):c.1675-4C>G rs369915027 0.00005
NM_001164508.2(NEB):c.7861G>A (p.Asp2621Asn) rs781745506 0.00005
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp) rs533233215 0.00004
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln) rs781250495 0.00004
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His) rs201291446 0.00004
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter) rs200731870 0.00004
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile) rs767493706 0.00004
NM_001164508.2(NEB):c.5452-4A>G rs376623225 0.00004
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_001164508.2(NEB):c.18472-1G>C rs1203257517 0.00003
NM_001164508.2(NEB):c.19724G>A (p.Arg6575His) rs185999504 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.25172G>A (p.Arg8391Gln) rs749034995 0.00003
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219 0.00002
NM_001164508.2(NEB):c.19861C>T (p.His6621Tyr) rs1559832482 0.00002
NM_001164508.2(NEB):c.22441A>G (p.Ile7481Val) rs374581669 0.00002
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser) rs756692621 0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977 0.00002
NM_001164508.2(NEB):c.9853C>T (p.Arg3285Cys) rs370572955 0.00002
NM_001164508.2(NEB):c.9875T>C (p.Ile3292Thr) rs186634689 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.1365+2T>C rs770797137 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.1613A>G (p.His538Arg) rs925195870 0.00001
NM_001164508.2(NEB):c.17118+1G>A rs747946275 0.00001
NM_001164508.2(NEB):c.17197C>T (p.Arg5733Cys) rs1000108046 0.00001
NM_001164508.2(NEB):c.1849del (p.Asp617fs) rs755531536 0.00001
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter) rs1475648900 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.20033G>A (p.Arg6678His) rs1487589344 0.00001
NM_001164508.2(NEB):c.21313-2A>T rs1212081578 0.00001
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter) rs750900690 0.00001
NM_001164508.2(NEB):c.21840T>C (p.Asp7280=) rs770721746 0.00001
NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln) rs756646859 0.00001
NM_001164508.2(NEB):c.22117C>T (p.Arg7373Trp) rs779004876 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.22831C>T (p.Arg7611Ter) rs555582398 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.23986G>A (p.Glu7996Lys) rs1202510810 0.00001
NM_001164508.2(NEB):c.2415+2T>C rs1057517399 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.24212T>A (p.Leu8071Ter) rs756726488 0.00001
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter) rs1218073575 0.00001
NM_001164508.2(NEB):c.24300+1G>A rs1366853918 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.25183C>T (p.Arg8395Ter) rs747179265 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.4151C>G (p.Pro1384Arg) rs762809955 0.00001
NM_001164508.2(NEB):c.5344-1G>C rs1197561990 0.00001
NM_001164508.2(NEB):c.5763+5G>A rs776167256 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.6262G>A (p.Val2088Ile) rs747729019 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.10274del (p.Lys3425fs)
NM_001164508.2(NEB):c.1036-1G>A
NM_001164508.2(NEB):c.10452+1G>C
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.10592T>A (p.Leu3531Ter)
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter) rs779909544
NM_001164508.2(NEB):c.10653_10654dup (p.Ile3552fs)
NM_001164508.2(NEB):c.10683C>A (p.Tyr3561Ter)
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.11181+2T>C rs1553904694
NM_001164508.2(NEB):c.11289+1G>A
NM_001164508.2(NEB):c.1129del (p.Ala377fs)
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.11584_11587dup (p.Asp3863delinsValTer) rs2153991555
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter) rs1259297878
NM_001164508.2(NEB):c.11628G>A (p.Trp3876Ter)
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.11939C>A (p.Ser3980Ter)
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.1214_1215dup (p.Lys406fs)
NM_001164508.2(NEB):c.12160del (p.Trp4054fs) rs1319778592
NM_001164508.2(NEB):c.12162G>A (p.Trp4054Ter)
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.1263dup (p.Tyr422fs)
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.13220del (p.Pro4407fs) rs2153930361
NM_001164508.2(NEB):c.13234del (p.Ala4412fs)
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.1400dup (p.Lys468fs)
NM_001164508.2(NEB):c.14724del (p.Leu4909fs)
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.14805del (p.Asn4936fs)
NM_001164508.2(NEB):c.14817dup (p.Ile4940fs)
NM_001164508.2(NEB):c.14827-14CT[2] rs536426422
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.1570-1G>C rs1390328608
NM_001164508.2(NEB):c.1570-2A>G rs1553603958
NM_001164508.2(NEB):c.16204A>T (p.Lys5402Ter)
NM_001164508.2(NEB):c.1623del (p.Asp542fs) rs772366030
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.1646del (p.His549fs)
NM_001164508.2(NEB):c.16490_16505del (p.Leu5497fs)
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.16929G>A (p.Trp5643Ter)
NM_001164508.2(NEB):c.17013+1G>A
NM_001164508.2(NEB):c.17019_17020del (p.Tyr5674fs)
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.17737-2A>T
NM_001164508.2(NEB):c.17749G>T (p.Glu5917Ter)
NM_001164508.2(NEB):c.17756G>A (p.Trp5919Ter)
NM_001164508.2(NEB):c.17781del (p.Gly5926_Tyr5927insTer) rs2096491549
NM_001164508.2(NEB):c.17828del (p.Asn5943fs) rs1560031341
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.18262-1G>T
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.18588C>G (p.Tyr6196Ter)
NM_001164508.2(NEB):c.18694-6_18694-2del rs1377029367
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.19303_19304delinsG (p.Leu6435fs)
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.20243_20249del (p.Thr6748fs)
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.20390_20412del (p.Gln6797fs) rs1553710982
NM_001164508.2(NEB):c.20441_20445dup (p.Arg6816fs)
NM_001164508.2(NEB):c.20442_20447dup (p.Ser6815_Arg6816dup) rs760783104
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.20683-2A>C
NM_001164508.2(NEB):c.2069del (p.His690fs)
NM_001164508.2(NEB):c.2075_2076del (p.His692fs) rs2149163148
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
NM_001164508.2(NEB):c.20929A>T (p.Lys6977Ter)
NM_001164508.2(NEB):c.21007A>T (p.Lys7003Ter)
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.21639C>A (p.Tyr7213Ter)
NM_001164508.2(NEB):c.21714dup (p.Ala7239fs)
NM_001164508.2(NEB):c.21736-2A>G rs1389892619
NM_001164508.2(NEB):c.2173G>T (p.Glu725Ter)
NM_001164508.2(NEB):c.2178T>G (p.Tyr726Ter)
NM_001164508.2(NEB):c.21936_21940del (p.Ile7312fs)
NM_001164508.2(NEB):c.21956_21957dup (p.Glu7320fs)
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.22181T>C (p.Phe7394Ser) rs2153447855
NM_001164508.2(NEB):c.22209C>G (p.Tyr7403Ter)
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.22272_22272+3del
NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter) rs1576203853
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.22598dup (p.Tyr7533Ter)
NM_001164508.2(NEB):c.22613del (p.Lys7538fs)
NM_001164508.2(NEB):c.22639A>G (p.Met7547Val)
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.22909G>T (p.Glu7637Ter)
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.23330del (p.Lys7777fs)
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.23387del (p.Tyr7796fs)
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.23533G>T (p.Glu7845Ter)
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.24003_24006dup (p.Glu8003fs) rs1553568447
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.24096_24099dup (p.Glu8034fs) rs1553561211
NM_001164508.2(NEB):c.24108_24112dup (p.Ser8038fs)
NM_001164508.2(NEB):c.24114G>A (p.Ser8038=) rs781581005
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.24182_24185dup (p.His8062fs) rs2152991690
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001164508.2(NEB):c.24190C>T (p.Gln8064Ter)
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) rs781667543
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs) rs1553552384
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.24454C>T (p.Arg8152Ter) rs763364977
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.24589A>T (p.Lys8197Ter)
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.24748C>T (p.Gln8250Ter)
NM_001164508.2(NEB):c.24772_24778delinsA (p.Tyr8258_Asp8260delinsAsn)
NM_001164508.2(NEB):c.24798del (p.Gln8267fs)
NM_001164508.2(NEB):c.24850G>A (p.Glu8284Lys)
NM_001164508.2(NEB):c.24889_24890insGG (p.Asp8297fs)
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter) rs767709270
NM_001164508.2(NEB):c.249_255del (p.Pro84fs)
NM_001164508.2(NEB):c.25057+1G>A rs1191429915
NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter) rs777232352
NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter) rs760200697
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.25203_25204inv (p.Ile8402Val)
NM_001164508.2(NEB):c.25276_25277del (p.Gly8426fs)
NM_001164508.2(NEB):c.25291_25292del (p.Ser8431fs)
NM_001164508.2(NEB):c.25297+1G>A rs113525641
NM_001164508.2(NEB):c.25305dup (p.His8436fs)
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.2559del (p.Lys854_Met855insTer)
NM_001164508.2(NEB):c.2647C>T (p.Arg883Ter) rs1333519240
NM_001164508.2(NEB):c.2772C>G (p.Tyr924Ter)
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.3127_3129dup (p.Asn1043dup) rs1288870299
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.3498_3517dup (p.Asp1173fs)
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>A rs587780399
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.39del (p.Tyr14fs)
NM_001164508.2(NEB):c.402+1G>A
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.412C>T (p.Arg138Ter) rs1057517360
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.4366G>T (p.Glu1456Ter)
NM_001164508.2(NEB):c.4379del (p.Val1460fs)
NM_001164508.2(NEB):c.4506+1G>A rs112517981
NM_001164508.2(NEB):c.4507-1G>A rs2154185810
NM_001164508.2(NEB):c.4623del (p.Ala1542fs) rs1559039815
NM_001164508.2(NEB):c.4720-2A>G rs1057518353
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.49del (p.Glu17fs)
NM_001164508.2(NEB):c.5061G>A (p.Trp1687Ter)
NM_001164508.2(NEB):c.5136_5139del (p.Ser1712fs)
NM_001164508.2(NEB):c.5224C>T (p.Leu1742=) rs886054947
NM_001164508.2(NEB):c.5229dup (p.Met1744fs) rs2154176971
NM_001164508.2(NEB):c.5244_5254delinsG (p.Tyr1749fs)
NM_001164508.2(NEB):c.528G>A (p.Trp176Ter)
NM_001164508.2(NEB):c.5292del (p.Asp1765fs)
NM_001164508.2(NEB):c.5309T>A (p.Leu1770Ter) rs2154175437
NM_001164508.2(NEB):c.5343+5G>A rs2154175371
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.5482_5485del (p.Lys1828fs)
NM_001164508.2(NEB):c.5523_5527del (p.Lys1842fs) rs2154172729
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001164508.2(NEB):c.5741dup (p.Asn1914fs)
NM_001164508.2(NEB):c.5907T>G (p.Tyr1969Ter)
NM_001164508.2(NEB):c.5971-1G>A
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.6265del (p.His2089fs)
NM_001164508.2(NEB):c.6365del (p.Val2122fs)
NM_001164508.2(NEB):c.6411C>A (p.Tyr2137Ter)
NM_001164508.2(NEB):c.6496-1G>A
NM_001164508.2(NEB):c.6612C>A (p.Tyr2204Ter)
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.7236T>A (p.Tyr2412Ter)
NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter) rs2154134234
NM_001164508.2(NEB):c.739del (p.Ala247fs) rs2150350376
NM_001164508.2(NEB):c.7431+1919_7536+374del
NM_001164508.2(NEB):c.7519_7520del (p.Leu2507fs)
NM_001164508.2(NEB):c.751del (p.Ala251fs)
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.7900del (p.Leu2634fs)
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.8047del (p.Gln2683fs)
NM_001164508.2(NEB):c.8138dup (p.Asn2713fs)
NM_001164508.2(NEB):c.8222_8232del (p.Pro2741fs)
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.8545_8546dup (p.Met2849fs)
NM_001164508.2(NEB):c.8687del (p.Asn2896fs)
NM_001164508.2(NEB):c.8728del (p.Trp2910fs)
NM_001164508.2(NEB):c.8803C>T (p.Gln2935Ter) rs1351747266
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.9465del (p.Ile3156fs) rs1553939600
NM_001164508.2(NEB):c.9709del (p.Ile3237fs)
NM_001164508.2(NEB):c.9724-1G>A rs1553934586
NM_001164508.2(NEB):c.9724-2A>G rs1553934597
NM_001164508.2(NEB):c.9775C>T (p.Arg3259Ter) rs1301228529
NM_001164508.2(NEB):c.9779del (p.Ser3260fs)
NM_001164508.2(NEB):c.9974G>A (p.Trp3325Ter)
NM_001271208.1(NEB):c.7291G>A rs767302772

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.