ClinVar Miner

List of variants reported as likely pathogenic for nemaline myopathy 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 759
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
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.23742+2T>C rs545937015 0.00006
NM_001164508.2(NEB):c.11341C>T (p.Arg3781Trp) rs533027587 0.00005
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.9619-2A>G rs375145370 0.00004
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
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.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.24402C>G (p.Tyr8134Ter) rs758277406 0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977 0.00002
NM_001271208.2(NEB):c.17276del (p.Gln5759fs) rs1346554177 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.1153-2A>G rs1553609515 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.13130_13131del (p.Met4377fs) rs1490309743 0.00001
NM_001164508.2(NEB):c.1365+2T>C rs770797137 0.00001
NM_001164508.2(NEB):c.1470+1G>A rs1220787593 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001164508.2(NEB):c.1570-2del rs2099590816 0.00001
NM_001164508.2(NEB):c.1674+1G>T rs750585238 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.20577+2T>C rs1185654671 0.00001
NM_001164508.2(NEB):c.20787+2T>C rs1337287633 0.00001
NM_001164508.2(NEB):c.21313-2A>T rs1212081578 0.00001
NM_001164508.2(NEB):c.21736-13_21743del rs767772838 0.00001
NM_001164508.2(NEB):c.2211+5G>T rs797045736 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.22696-1G>A rs745511810 0.00001
NM_001164508.2(NEB):c.22905+2T>C rs1553623367 0.00001
NM_001164508.2(NEB):c.23016+1G>A rs111833078 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.24022-1G>C rs1553561697 0.00001
NM_001164508.2(NEB):c.2415+2T>C rs1057517399 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.25404+1_25404+2insATGGA rs1357452519 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+1G>A rs759956258 0.00001
NM_001164508.2(NEB):c.294+2T>C rs773952935 0.00001
NM_001164508.2(NEB):c.295-2A>G rs1428300892 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.6076-1G>T rs1553469502 0.00001
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter) rs756363951 0.00001
NM_001164508.2(NEB):c.7228-1G>A rs1057516996 0.00001
NM_001164508.2(NEB):c.8020G>A (p.Glu2674Lys) rs369224273 0.00001
NM_001164508.2(NEB):c.9414+1G>T rs1255445731 0.00001
NC_000002.11:g.(?_152348187)_(152425896_?)dup
NC_000002.11:g.(?_152375260)_(152376281_?)del
NC_000002.11:g.(?_152420500)_(152423885_?)del
NC_000002.11:g.(?_152483537)_(152487591_?)del
NC_000002.11:g.(?_152490288)_(152493899_?)del
NC_000002.11:g.(?_152492904)_(152495879_?)del
NC_000002.11:g.(?_152506680)_(152507409_?)del
NC_000002.11:g.(?_152511637)_(152512693_?)del
NC_000002.11:g.(?_152518793)_(152528469_?)del
NC_000002.11:g.(?_152541945)_(152544191_?)del
NC_000002.11:g.(?_152541945)_(152544192_?)del
NM_001100.4(ACTA1):c.821C>T (p.Ala274Val) rs1553255357
NM_001164507.2(NEB):c.21321C>G (p.Tyr7107Ter) rs1553679273
NM_001164507.2(NEB):c.21358del (p.Leu7120fs) rs1553678967
NM_001164508.2(NEB):c.10054_10055delinsT (p.Asp3352fs)
NM_001164508.2(NEB):c.10143+2T>G
NM_001164508.2(NEB):c.10144-2A>G rs1435980710
NM_001164508.2(NEB):c.10165C>T (p.Gln3389Ter)
NM_001164508.2(NEB):c.10169_10170insCT (p.Trp3390fs)
NM_001164508.2(NEB):c.10170G>A (p.Trp3390Ter)
NM_001164508.2(NEB):c.10211_10212insCTAC (p.Val3405fs)
NM_001164508.2(NEB):c.10222A>T (p.Lys3408Ter)
NM_001164508.2(NEB):c.10234G>T (p.Glu3412Ter)
NM_001164508.2(NEB):c.10255_10256insGTCTCTTA (p.Tyr3419fs)
NM_001164508.2(NEB):c.10545_10552del (p.Asp3516fs)
NM_001164508.2(NEB):c.10560+1G>A rs1553915731
NM_001164508.2(NEB):c.10598_10599del (p.His3533fs)
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter) rs779909544
NM_001164508.2(NEB):c.10675C>G (p.Arg3559Gly) rs751938843
NM_001164508.2(NEB):c.10738_10742del (p.Gly3580fs)
NM_001164508.2(NEB):c.1082_1097del (p.Tyr361fs)
NM_001164508.2(NEB):c.10882A>T (p.Lys3628Ter)
NM_001164508.2(NEB):c.10916G>A (p.Trp3639Ter)
NM_001164508.2(NEB):c.11021dup (p.Thr3675fs)
NM_001164508.2(NEB):c.11077-1G>A rs1458096844
NM_001164508.2(NEB):c.11140G>T (p.Glu3714Ter)
NM_001164508.2(NEB):c.11181+2T>C rs1553904694
NM_001164508.2(NEB):c.11254C>T (p.Gln3752Ter)
NM_001164508.2(NEB):c.11269delinsATCAGCCTCGA (p.Ser3757fs)
NM_001164508.2(NEB):c.11289+1G>C rs1553901249
NM_001164508.2(NEB):c.11474_11475dup (p.Leu3826fs)
NM_001164508.2(NEB):c.11529del (p.His3844fs)
NM_001164508.2(NEB):c.1153-2A>T rs1553609515
NM_001164508.2(NEB):c.11584_11587dup (p.Asp3863delinsValTer) rs2153991555
NM_001164508.2(NEB):c.11601+2T>C
NM_001164508.2(NEB):c.11602-2A>C rs1553891733
NM_001164508.2(NEB):c.11805+1G>A
NM_001164508.2(NEB):c.11805+2T>A
NM_001164508.2(NEB):c.11806-1G>A rs886041851
NM_001164508.2(NEB):c.11891del (p.Asn3964fs)
NM_001164508.2(NEB):c.11909_11910+4del rs1553886582
NM_001164508.2(NEB):c.11923A>T (p.Lys3975Ter)
NM_001164508.2(NEB):c.11969A>C (p.Asp3990Ala)
NM_001164508.2(NEB):c.11986del (p.Ser3996fs)
NM_001164508.2(NEB):c.12019-2A>G
NM_001164508.2(NEB):c.1212_1232dup (p.Thr411_Val412insProLysPheLysLeuAspThr)
NM_001164508.2(NEB):c.12330+1G>A rs1350840483
NM_001164508.2(NEB):c.12330+5G>A rs763163879
NM_001164508.2(NEB):c.12331-1G>A rs2097775442
NM_001164508.2(NEB):c.1254_1255del (p.Ser418fs)
NM_001164508.2(NEB):c.1257+2T>G rs2149365500
NM_001164508.2(NEB):c.12640-1G>A rs2097713999
NM_001164508.2(NEB):c.126T>A (p.Tyr42Ter)
NM_001164508.2(NEB):c.12747+2T>C
NM_001164508.2(NEB):c.12748-1G>A
NM_001164508.2(NEB):c.12748-1_12761del rs2153940927
NM_001164508.2(NEB):c.13060-2A>G rs2097571378
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter) rs1212374733
NM_001164508.2(NEB):c.13368+1G>A
NM_001164508.2(NEB):c.13369-2A>C
NM_001164508.2(NEB):c.13369-2A>G
NM_001164508.2(NEB):c.13369-2_13374del
NM_001164508.2(NEB):c.13476+1G>A rs1578868550
NM_001164508.2(NEB):c.13477-2A>G rs2153903681
NM_001164508.2(NEB):c.13477-2A>T
NM_001164508.2(NEB):c.1365+1G>T
NM_001164508.2(NEB):c.1366-2A>G rs1553607505
NM_001164508.2(NEB):c.1370_1386delinsTCTA (p.Asn457fs)
NM_001164508.2(NEB):c.13788+1G>A rs1553862061
NM_001164508.2(NEB):c.1415_1416insACATTCAAAGT (p.Gln473fs)
NM_001164508.2(NEB):c.1470+1G>C rs1220787593
NM_001164508.2(NEB):c.1569+1G>A rs1553605553
NM_001164508.2(NEB):c.1569+1G>C
NM_001164508.2(NEB):c.1570-1G>C rs1390328608
NM_001164508.2(NEB):c.1570-2A>G rs1553603958
NM_001164508.2(NEB):c.1570-2_1574del rs1553603933
NM_001164508.2(NEB):c.1638dup (p.Ile547fs)
NM_001164508.2(NEB):c.16704+1G>A rs1227806763
NM_001164508.2(NEB):c.16705-1G>C
NM_001164508.2(NEB):c.1672_1674+2del rs1057516739
NM_001164508.2(NEB):c.1674+2T>C rs1553603437
NM_001164508.2(NEB):c.1675-1G>C
NM_001164508.2(NEB):c.1675-2A>G
NM_001164508.2(NEB):c.16909-2A>G
NM_001164508.2(NEB):c.1694G>A (p.Trp565Ter)
NM_001164508.2(NEB):c.17160C>A (p.Tyr5720Ter)
NM_001164508.2(NEB):c.17314_17315del (p.Asn5772fs)
NM_001164508.2(NEB):c.17411_17412del (p.Ala5804fs)
NM_001164508.2(NEB):c.17431-2A>T
NM_001164508.2(NEB):c.17535+1G>T rs2153749469
NM_001164508.2(NEB):c.17736+1G>A
NM_001164508.2(NEB):c.1782+1del rs1390897355
NM_001164508.2(NEB):c.17828del (p.Asn5943fs) rs1560031341
NM_001164508.2(NEB):c.17845-2A>T rs1177405905
NM_001164508.2(NEB):c.17953_18472-56del
NM_001164508.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer) rs1553601066
NM_001164508.2(NEB):c.18146_18156+7del
NM_001164508.2(NEB):c.18157-2A>C
NM_001164508.2(NEB):c.18157-2A>G rs925947627
NM_001164508.2(NEB):c.1815dup (p.Gly606fs)
NM_001164508.2(NEB):c.18228_18229insCC (p.Arg6077fs)
NM_001164508.2(NEB):c.18261+1G>A
NM_001164508.2(NEB):c.18261+1G>T rs112544116
NM_001164508.2(NEB):c.18366+2T>C rs2153729614
NM_001164508.2(NEB):c.18367-1_18367delinsAA rs1553770178
NM_001164508.2(NEB):c.18367-1_18370del rs1553770146
NM_001164508.2(NEB):c.18372dup (p.Tyr6125fs)
NM_001164508.2(NEB):c.18471+1G>C rs1553769576
NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs) rs747282057
NM_001164508.2(NEB):c.18579+1G>T
NM_001164508.2(NEB):c.18580-8_18608del
NM_001164508.2(NEB):c.18694-1G>A rs2153712182
NM_001164508.2(NEB):c.18694-2del rs1553763404
NM_001164508.2(NEB):c.18694-8_18707del
NM_001164508.2(NEB):c.18703_18704insT (p.Arg6235fs)
NM_001164508.2(NEB):c.1871T>A (p.Leu624Ter)
NM_001164508.2(NEB):c.18724A>T (p.Lys6242Ter)
NM_001164508.2(NEB):c.18769del (p.Ala6257fs)
NM_001164508.2(NEB):c.18774_18775del (p.Arg6259fs)
NM_001164508.2(NEB):c.18795_18796del (p.Ser6265fs)
NM_001164508.2(NEB):c.18809del (p.Arg6270fs)
NM_001164508.2(NEB):c.18839_18841delinsA (p.Leu6280fs)
NM_001164508.2(NEB):c.18892-1G>T
NM_001164508.2(NEB):c.18900T>A (p.Tyr6300Ter)
NM_001164508.2(NEB):c.18937del (p.Tyr6313fs)
NM_001164508.2(NEB):c.18945G>A (p.Trp6315Ter)
NM_001164508.2(NEB):c.1897-1G>A rs1553593177
NM_001164508.2(NEB):c.18981C>G (p.Tyr6327Ter) rs761964375
NM_001164508.2(NEB):c.18996+2T>C rs1577636079
NM_001164508.2(NEB):c.19078_19079del (p.Gln6360fs)
NM_001164508.2(NEB):c.19101+1G>A
NM_001164508.2(NEB):c.19102-10_19102-4del rs1577576425
NM_001164508.2(NEB):c.19106_19107del (p.Lys6369fs)
NM_001164508.2(NEB):c.19126_19151del (p.Gln6376fs) rs1553757097
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter) rs2153702280
NM_001164508.2(NEB):c.19168del (p.Tyr6390fs)
NM_001164508.2(NEB):c.19207-1G>A rs1553755829
NM_001164508.2(NEB):c.19307_19308del (p.Ala6436fs)
NM_001164508.2(NEB):c.19356T>A (p.Tyr6452Ter)
NM_001164508.2(NEB):c.19374delinsAC (p.Asp6459fs)
NM_001164508.2(NEB):c.19428+1dup
NM_001164508.2(NEB):c.19442C>A (p.Ser6481Ter)
NM_001164508.2(NEB):c.19626+1G>A rs756352186
NM_001164508.2(NEB):c.19836+1G>T rs1446930968
NM_001164508.2(NEB):c.19836+1del
NM_001164508.2(NEB):c.19843_19853del (p.Tyr6615fs)
NM_001164508.2(NEB):c.19879_19880insCCCCATGC (p.Val6627fs)
NM_001164508.2(NEB):c.19945-2A>C rs113473971
NM_001164508.2(NEB):c.19959del (p.Ser6654fs)
NM_001164508.2(NEB):c.19981G>T (p.Gly6661Ter)
NM_001164508.2(NEB):c.19983dup (p.Tyr6662fs)
NM_001164508.2(NEB):c.20049+2T>A
NM_001164508.2(NEB):c.20050-2A>T
NM_001164508.2(NEB):c.20059A>T (p.Lys6687Ter)
NM_001164508.2(NEB):c.20088dup (p.Gly6697fs)
NM_001164508.2(NEB):c.20157+1G>A
NM_001164508.2(NEB):c.20157+2T>C rs1553717306
NM_001164508.2(NEB):c.20158-1G>C rs1553715579
NM_001164508.2(NEB):c.20163_20164del (p.Tyr6722fs)
NM_001164508.2(NEB):c.20253del (p.Val6752fs)
NM_001164508.2(NEB):c.20262+2T>C
NM_001164508.2(NEB):c.20262+2T>G rs2153617573
NM_001164508.2(NEB):c.20364_20365del (p.Ser6788fs)
NM_001164508.2(NEB):c.20390_20412del (p.Gln6797fs) rs1553710982
NM_001164508.2(NEB):c.20401G>T (p.Gly6801Ter) rs1405498595
NM_001164508.2(NEB):c.20467-1G>A
NM_001164508.2(NEB):c.20467-1G>T rs760082702
NM_001164508.2(NEB):c.20514C>A (p.Tyr6838Ter) rs1242775893
NM_001164508.2(NEB):c.2056G>T (p.Glu686Ter)
NM_001164508.2(NEB):c.20578-2A>G
NM_001164508.2(NEB):c.20650_20651insCCTCT (p.Arg6884fs)
NM_001164508.2(NEB):c.20674C>T (p.Gln6892Ter)
NM_001164508.2(NEB):c.2067T>A (p.Tyr689Ter)
NM_001164508.2(NEB):c.20682+1G>A rs1576819152
NM_001164508.2(NEB):c.20685T>A (p.Tyr6895Ter)
NM_001164508.2(NEB):c.20691T>A (p.Tyr6897Ter)
NM_001164508.2(NEB):c.20788-1G>A rs1553695557
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
NM_001164508.2(NEB):c.20813del (p.Lys6938fs)
NM_001164508.2(NEB):c.20875del (p.Tyr6959fs)
NM_001164508.2(NEB):c.20889dup (p.Asp6964Ter) rs1553694860
NM_001164508.2(NEB):c.2095C>T (p.Gln699Ter)
NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs) rs1559680233
NM_001164508.2(NEB):c.20978_20985delinsG (p.Val6993fs)
NM_001164508.2(NEB):c.21093_21094del (p.Val7032fs) rs1553688242
NM_001164508.2(NEB):c.21102+2_21102+3del
NM_001164508.2(NEB):c.21103-1G>C
NM_001164508.2(NEB):c.21130del (p.Gly7046fs)
NM_001164508.2(NEB):c.21213del (p.Lys7071fs)
NM_001164508.2(NEB):c.21312+1G>A rs1553682994
NM_001164508.2(NEB):c.21313-1G>C rs2153515796
NM_001164508.2(NEB):c.21313-2A>G
NM_001164508.2(NEB):c.21318del (p.Lys7106fs) rs2092318339
NM_001164508.2(NEB):c.21417+1G>A rs2153515061
NM_001164508.2(NEB):c.21418-1G>A rs2153501801
NM_001164508.2(NEB):c.21444dup (p.Ser7149fs)
NM_001164508.2(NEB):c.2148C>A (p.Cys716Ter)
NM_001164508.2(NEB):c.21523-1G>T
NM_001164508.2(NEB):c.21624_21625insTTATACTTGACACCATG (p.Ser7209delinsLeuTyrLeuThrProTer)
NM_001164508.2(NEB):c.21630+1G>A rs1446706909
NM_001164508.2(NEB):c.21631-2A>G
NM_001164508.2(NEB):c.21634A>T (p.Lys7212Ter)
NM_001164508.2(NEB):c.21735+1G>C rs2153475495
NM_001164508.2(NEB):c.21736-1G>T
NM_001164508.2(NEB):c.21736-2A>G rs1389892619
NM_001164508.2(NEB):c.21744T>A (p.Tyr7248Ter)
NM_001164508.2(NEB):c.21817A>T (p.Lys7273Ter)
NM_001164508.2(NEB):c.21945+1G>A
NM_001164508.2(NEB):c.21945+1G>C rs2153458564
NM_001164508.2(NEB):c.22048G>T (p.Glu7350Ter)
NM_001164508.2(NEB):c.2204_2205del (p.Gln734_Cys735insTer)
NM_001164508.2(NEB):c.22087C>T (p.Gln7363Ter) rs1553646540
NM_001164508.2(NEB):c.2211+1G>A rs1553586486
NM_001164508.2(NEB):c.2211+2T>A rs2149150540
NM_001164508.2(NEB):c.2212-2A>G rs1553580540
NM_001164508.2(NEB):c.22138del (p.Glu7380fs) rs1235589246
NM_001164508.2(NEB):c.22142_22143del (p.Val7381fs)
NM_001164508.2(NEB):c.22153del (p.Val7385fs)
NM_001164508.2(NEB):c.22161+1G>A rs112933443
NM_001164508.2(NEB):c.22162-1G>C
NM_001164508.2(NEB):c.22162-5_22162-2del rs1553644243
NM_001164508.2(NEB):c.22215_22220delinsGC (p.Ile7405fs)
NM_001164508.2(NEB):c.22272+1G>A
NM_001164508.2(NEB):c.22272+2_22272+3del rs2153447342
NM_001164508.2(NEB):c.22273-1G>A rs1553642332
NM_001164508.2(NEB):c.22287_22292delinsCGAT (p.Lys7429fs)
NM_001164508.2(NEB):c.22294_22295insCAGATTTA (p.Lys7432fs)
NM_001164508.2(NEB):c.2230_2231del (p.Pro744fs)
NM_001164508.2(NEB):c.22315dup (p.Thr7439fs)
NM_001164508.2(NEB):c.22353_22354insCA (p.Ala7452fs)
NM_001164508.2(NEB):c.22375-1G>C
NM_001164508.2(NEB):c.22375-2A>G rs2153437998
NM_001164508.2(NEB):c.22479+1del rs1488066635
NM_001164508.2(NEB):c.22480-1G>C
NM_001164508.2(NEB):c.22483A>T (p.Lys7495Ter)
NM_001164508.2(NEB):c.22500_22501del (p.Phe7500fs)
NM_001164508.2(NEB):c.22511del (p.Lys7504fs) rs2080623161
NM_001164508.2(NEB):c.22622delinsTT (p.His7541fs)
NM_001164508.2(NEB):c.22641del (p.Met7547fs) rs1057515573
NM_001164508.2(NEB):c.22696-2A>C
NM_001164508.2(NEB):c.22711A>T (p.Lys7571Ter)
NM_001164508.2(NEB):c.22716T>G (p.Tyr7572Ter)
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg) rs1575897069
NM_001164508.2(NEB):c.22800+2T>G rs1553627466
NM_001164508.2(NEB):c.22804A>T (p.Lys7602Ter)
NM_001164508.2(NEB):c.22821T>G (p.Tyr7607Ter)
NM_001164508.2(NEB):c.22905+1del rs771740564
NM_001164508.2(NEB):c.22939A>T (p.Lys7647Ter)
NM_001164508.2(NEB):c.2299C>T (p.Gln767Ter)
NM_001164508.2(NEB):c.23017-12_23022delinsAT
NM_001164508.2(NEB):c.23017-3_23017del
NM_001164508.2(NEB):c.23069_23072del (p.Glu7690fs)
NM_001164508.2(NEB):c.2310+2T>A rs1553579092
NM_001164508.2(NEB):c.2310+2_2310+3delinsAC
NM_001164508.2(NEB):c.23127+1G>A
NM_001164508.2(NEB):c.23127+2T>A
NM_001164508.2(NEB):c.23128-1G>A
NM_001164508.2(NEB):c.23128-1G>T
NM_001164508.2(NEB):c.23161_23164del (p.Lys7721fs)
NM_001164508.2(NEB):c.23162_23165delinsCAGATGTGTAT (p.Lys7721fs)
NM_001164508.2(NEB):c.23174_23187del (p.Leu7725fs)
NM_001164508.2(NEB):c.23186delinsGAATCA (p.Ala7729fs)
NM_001164508.2(NEB):c.23241+2T>A rs1553615846
NM_001164508.2(NEB):c.23242-2A>G
NM_001164508.2(NEB):c.2329del (p.His777fs)
NM_001164508.2(NEB):c.2332G>T (p.Glu778Ter)
NM_001164508.2(NEB):c.23341dup (p.Ser7781fs)
NM_001164508.2(NEB):c.23346+1G>A
NM_001164508.2(NEB):c.23346+2T>G
NM_001164508.2(NEB):c.23347-2A>G
NM_001164508.2(NEB):c.23378del (p.Met7793fs) rs1553603690
NM_001164508.2(NEB):c.23415dup (p.Gln7806fs) rs1553603438
NM_001164508.2(NEB):c.23416_23417del (p.Gln7806fs)
NM_001164508.2(NEB):c.23421_23422del (p.Arg7807fs) rs1553603400
NM_001164508.2(NEB):c.23451+1G>A
NM_001164508.2(NEB):c.23451+1G>C rs1011425121
NM_001164508.2(NEB):c.23452-1G>C
NM_001164508.2(NEB):c.23457dup (p.Tyr7820fs)
NM_001164508.2(NEB):c.23494dup (p.Thr7832fs)
NM_001164508.2(NEB):c.23502_23503del (p.Gln7835fs)
NM_001164508.2(NEB):c.23551del (p.Ser7851fs)
NM_001164508.2(NEB):c.23556+1G>T rs2153195911
NM_001164508.2(NEB):c.23556+2T>A
NM_001164508.2(NEB):c.23628_23631dup (p.Gln7878fs)
NM_001164508.2(NEB):c.23650-1G>A rs2153172016
NM_001164508.2(NEB):c.23650-2A>T
NM_001164508.2(NEB):c.23742+1G>A
NM_001164508.2(NEB):c.23743-1G>C rs797045098
NM_001164508.2(NEB):c.23786dup (p.Thr7930fs) rs756612643
NM_001164508.2(NEB):c.23834C>A (p.Ser7945Ter) rs755970391
NM_001164508.2(NEB):c.23835+1G>A rs781120931
NM_001164508.2(NEB):c.23835+2T>C
NM_001164508.2(NEB):c.23836-1G>A
NM_001164508.2(NEB):c.23836-2A>G rs2153104173
NM_001164508.2(NEB):c.23840dup (p.Leu7947fs)
NM_001164508.2(NEB):c.23848_23852del (p.Glu7950fs)
NM_001164508.2(NEB):c.2385del (p.Gln795fs) rs1553568167
NM_001164508.2(NEB):c.2388_2389del (p.His796fs)
NM_001164508.2(NEB):c.2391_2392del (p.Arg797fs) rs1057516938
NM_001164508.2(NEB):c.23929-1G>C rs2153074006
NM_001164508.2(NEB):c.23929-2A>C rs1553569122
NM_001164508.2(NEB):c.23967dup (p.Pro7990fs) rs2064466448
NM_001164508.2(NEB):c.24003_24006del (p.Asn8001fs) rs1553568447
NM_001164508.2(NEB):c.24011_24014dup (p.Phe8005fs)
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs) rs1553568357
NM_001164508.2(NEB):c.24022-1G>A rs1553561697
NM_001164508.2(NEB):c.24022-1_24029del rs1423137705
NM_001164508.2(NEB):c.24023_24026dup (p.Leu8009fs) rs1553561665
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs) rs772009599
NM_001164508.2(NEB):c.24039del (p.Asn8013fs) rs1553561525
NM_001164508.2(NEB):c.24072dup (p.Glu8025fs)
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs) rs1553561211
NM_001164508.2(NEB):c.24114+1G>C
NM_001164508.2(NEB):c.24115-1G>A
NM_001164508.2(NEB):c.24115-2A>G rs2152992966
NM_001164508.2(NEB):c.24127_24130del (p.Glu8043fs)
NM_001164508.2(NEB):c.24127_24130dup (p.Asn8044fs) rs1553556275
NM_001164508.2(NEB):c.2416-1G>C rs1553565278
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001164508.2(NEB):c.24207+2T>C rs1553555768
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.24242_24245dup (p.Leu8082fs)
NM_001164508.2(NEB):c.24272_24275dup (p.Lys8092fs)
NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs) rs1553551748
NM_001164508.2(NEB):c.24277_24280dup (p.Asn8094fs) rs1553551650
NM_001164508.2(NEB):c.24282_24285del (p.Asn8094fs)
NM_001164508.2(NEB):c.24297_24300+1del
NM_001164508.2(NEB):c.24301-1G>T
NM_001164508.2(NEB):c.24301_24305dup (p.Tyr8103fs) rs1553548771
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs) rs1344099907
NM_001164508.2(NEB):c.24305T>A (p.Leu8102Ter) rs1553548752
NM_001164508.2(NEB):c.24309C>A (p.Tyr8103Ter) rs1332061304
NM_001164508.2(NEB):c.24358G>T (p.Glu8120Ter)
NM_001164508.2(NEB):c.24358del (p.Glu8120fs)
NM_001164508.2(NEB):c.24361_24364del (p.Arg8121fs)
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.24377_24383del (p.Gln8126fs) rs1553548018
NM_001164508.2(NEB):c.2437G>T (p.Glu813Ter)
NM_001164508.2(NEB):c.24394-1G>A rs1421095081
NM_001164508.2(NEB):c.24394-1G>C
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter) rs763364977
NM_001164508.2(NEB):c.24457_24460dup (p.Lys8154fs)
NM_001164508.2(NEB):c.24477_24480dup (p.Ser8161delinsTyrTer) rs797044606
NM_001164508.2(NEB):c.24486+9C>T
NM_001164508.2(NEB):c.24487-1G>A
NM_001164508.2(NEB):c.24487-2A>G
NM_001164508.2(NEB):c.24487-6_24491del
NM_001164508.2(NEB):c.24510del (p.Ala8172fs)
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs) rs1553537512
NM_001164508.2(NEB):c.24579+1G>T rs2058584112
NM_001164508.2(NEB):c.24579+2T>C rs1039759571
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24579G>T (p.Ser8193=)
NM_001164508.2(NEB):c.24580-1G>C rs1574772311
NM_001164508.2(NEB):c.24580-2A>G rs113290650
NM_001164508.2(NEB):c.24590_24591del (p.Lys8197fs)
NM_001164508.2(NEB):c.24605_24606insCACTCAGC (p.Lys8202fs)
NM_001164508.2(NEB):c.24637G>T (p.Glu8213Ter) rs1553536267
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs) rs1357811155
NM_001164508.2(NEB):c.24662dup (p.Asn8221fs)
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer) rs794727136
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001164508.2(NEB):c.24672+1G>C
NM_001164508.2(NEB):c.24673-1G>A rs1574741105
NM_001164508.2(NEB):c.24673-1G>C
NM_001164508.2(NEB):c.24673-2A>C rs112687345
NM_001164508.2(NEB):c.24703dup (p.Thr8235fs)
NM_001164508.2(NEB):c.2472_2638-455del
NM_001164508.2(NEB):c.24730G>T (p.Glu8244Ter)
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs) rs776059611
NM_001164508.2(NEB):c.24765+1G>A rs2058028669
NM_001164508.2(NEB):c.24765+2T>A rs2152850167
NM_001164508.2(NEB):c.24766-9_24767del rs1553530144
NM_001164508.2(NEB):c.24873+2T>C
NM_001164508.2(NEB):c.24913_24914delinsA (p.Phe8305fs)
NM_001164508.2(NEB):c.24920del (p.Pro8307fs)
NM_001164508.2(NEB):c.24957_24958del (p.Asn8320fs)
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter) rs767709270
NM_001164508.2(NEB):c.24997C>T (p.Gln8333Ter)
NM_001164508.2(NEB):c.2499del (p.Ala834fs) rs1553564693
NM_001164508.2(NEB):c.25012delinsTA (p.Glu8338Ter) rs1553526619
NM_001164508.2(NEB):c.25057+1G>A rs1191429915
NM_001164508.2(NEB):c.25057+1G>C rs1191429915
NM_001164508.2(NEB):c.25057+1G>T rs1191429915
NM_001164508.2(NEB):c.25058-2A>C rs866309952
NM_001164508.2(NEB):c.25061del (p.Leu8354fs)
NM_001164508.2(NEB):c.250_267delinsA (p.Pro84fs)
NM_001164508.2(NEB):c.25151-1G>T rs1553520609
NM_001164508.2(NEB):c.25158_25159del (p.Gln8387fs)
NM_001164508.2(NEB):c.25201dup (p.Ser8401fs)
NM_001164508.2(NEB):c.25215_25216del (p.Glu8406fs)
NM_001164508.2(NEB):c.2523+2T>A rs2099513404
NM_001164508.2(NEB):c.25235_25297+90del
NM_001164508.2(NEB):c.2524-2A>G rs2148951277
NM_001164508.2(NEB):c.25277dup (p.Val8427fs)
NM_001164508.2(NEB):c.25291_25292del (p.Ser8431fs)
NM_001164508.2(NEB):c.25297+1G>A rs113525641
NM_001164508.2(NEB):c.25297+2del rs1553519860
NM_001164508.2(NEB):c.25298-2A>C
NM_001164508.2(NEB):c.25298-2A>G
NM_001164508.2(NEB):c.252del (p.Tyr85fs)
NM_001164508.2(NEB):c.25340C>A (p.Ser8447Ter) rs1553519124
NM_001164508.2(NEB):c.25404+2T>A rs1553518813
NM_001164508.2(NEB):c.2549del (p.Lys850fs)
NM_001164508.2(NEB):c.2560_2561insTGAAATATTGATACAC (p.Lys854delinsMetLysTyrTer)
NM_001164508.2(NEB):c.2613_2614del (p.Lys872fs)
NM_001164508.2(NEB):c.2627del (p.Asn876fs)
NM_001164508.2(NEB):c.2637+2T>G
NM_001164508.2(NEB):c.2658T>G (p.Tyr886Ter)
NM_001164508.2(NEB):c.2659G>T (p.Glu887Ter) rs1553558398
NM_001164508.2(NEB):c.2716A>T (p.Lys906Ter)
NM_001164508.2(NEB):c.2751del (p.Asp916_Tyr917insTer) rs1553557405
NM_001164508.2(NEB):c.2762T>A (p.Leu921Ter)
NM_001164508.2(NEB):c.2835+1G>A
NM_001164508.2(NEB):c.2836-2A>G rs1208297049
NM_001164508.2(NEB):c.2882G>A (p.Trp961Ter)
NM_001164508.2(NEB):c.2943G>A (p.Glu981=) rs398124170
NM_001164508.2(NEB):c.2944-1G>A rs1553542669
NM_001164508.2(NEB):c.295-1G>T rs111300270
NM_001164508.2(NEB):c.2956C>T (p.Gln986Ter)
NM_001164508.2(NEB):c.3018_3019insCATCT (p.Ile1007fs)
NM_001164508.2(NEB):c.3042+1G>A rs2099408391
NM_001164508.2(NEB):c.3042+1G>C
NM_001164508.2(NEB):c.3042+1G>T
NM_001164508.2(NEB):c.3043-1G>A rs113326313
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup) rs1288870299
NM_001164508.2(NEB):c.3147+1del rs1553539777
NM_001164508.2(NEB):c.3178_3179del (p.Ser1060fs)
NM_001164508.2(NEB):c.3181A>T (p.Lys1061Ter)
NM_001164508.2(NEB):c.3187G>T (p.Gly1063Ter)
NM_001164508.2(NEB):c.3252_3255+3del rs1559168230
NM_001164508.2(NEB):c.3255+1G>C rs375628303
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.3255+1del rs1553538835
NM_001164508.2(NEB):c.3277G>T (p.Glu1093Ter)
NM_001164508.2(NEB):c.3328A>T (p.Lys1110Ter)
NM_001164508.2(NEB):c.3330del (p.Lys1110fs)
NM_001164508.2(NEB):c.3338_3339insATGTC (p.His1113fs)
NM_001164508.2(NEB):c.3382A>T (p.Lys1128Ter)
NM_001164508.2(NEB):c.3383_3384del (p.Lys1128fs)
NM_001164508.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer) rs1159756073
NM_001164508.2(NEB):c.3401del (p.Lys1134fs)
NM_001164508.2(NEB):c.3432_3433del (p.Phe1144fs)
NM_001164508.2(NEB):c.3448A>T (p.Lys1150Ter)
NM_001164508.2(NEB):c.3567+1G>A rs587780399
NM_001164508.2(NEB):c.3567+1G>C rs587780399
NM_001164508.2(NEB):c.36+1G>C rs1553711195
NM_001164508.2(NEB):c.3679A>T (p.Lys1227Ter)
NM_001164508.2(NEB):c.3682_3686del (p.Tyr1228fs)
NM_001164508.2(NEB):c.37-1G>C rs1428597732
NM_001164508.2(NEB):c.3774+2T>C rs1553531049
NM_001164508.2(NEB):c.3780_3782delinsT (p.Leu1260fs)
NM_001164508.2(NEB):c.3843del (p.Leu1282fs) rs2154199737
NM_001164508.2(NEB):c.3860dup (p.Asn1287fs)
NM_001164508.2(NEB):c.3872_3873insTCTAA (p.Ser1292fs)
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001164508.2(NEB):c.3879+1G>C
NM_001164508.2(NEB):c.3879+2T>C rs2099350888
NM_001164508.2(NEB):c.3880-1G>T rs1057516381
NM_001164508.2(NEB):c.3880-2A>G rs1342507012
NM_001164508.2(NEB):c.3902del (p.Tyr1301fs)
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001164508.2(NEB):c.3988-1G>A rs1553517128
NM_001164508.2(NEB):c.3988-2A>G rs924831918
NM_001164508.2(NEB):c.3996C>G (p.Tyr1332Ter) rs1559093497
NM_001164508.2(NEB):c.3997A>T (p.Lys1333Ter)
NM_001164508.2(NEB):c.402+1G>T
NM_001164508.2(NEB):c.403-1G>C
NM_001164508.2(NEB):c.403-2A>G
NM_001164508.2(NEB):c.403-6_405del rs1553689774
NM_001164508.2(NEB):c.4047_4048del (p.Gln1350fs)
NM_001164508.2(NEB):c.4066del (p.Val1356fs)
NM_001164508.2(NEB):c.4082del (p.Val1361fs)
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001164508.2(NEB):c.4265_4266del (p.Glu1422fs)
NM_001164508.2(NEB):c.4299+4A>G rs781754253
NM_001164508.2(NEB):c.4300-1G>A
NM_001164508.2(NEB):c.4300-1G>C
NM_001164508.2(NEB):c.4300-2A>C rs1553512813
NM_001164508.2(NEB):c.4333A>T (p.Lys1445Ter)
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val) rs541803470
NM_001164508.2(NEB):c.4506+1G>A rs112517981
NM_001164508.2(NEB):c.4506+2T>C
NM_001164508.2(NEB):c.4507-1G>A rs2154185810
NM_001164508.2(NEB):c.4507-2A>C rs1575668113
NM_001164508.2(NEB):c.4507-2A>G rs1575668113
NM_001164508.2(NEB):c.4515C>A (p.Tyr1505Ter)
NM_001164508.2(NEB):c.4538_4539delinsGGGT (p.Lys1513fs)
NM_001164508.2(NEB):c.4543A>T (p.Lys1515Ter)
NM_001164508.2(NEB):c.4545_4546insGTTATTT (p.Tyr1516fs)
NM_001164508.2(NEB):c.4555_4556del (p.Asp1519fs)
NM_001164508.2(NEB):c.4576_4580delinsTTT (p.Ile1526fs)
NM_001164508.2(NEB):c.4585A>T (p.Lys1529Ter)
NM_001164508.2(NEB):c.4611+1G>A rs1233792020
NM_001164508.2(NEB):c.4623del (p.Ala1542fs) rs1559039815
NM_001164508.2(NEB):c.4656T>A (p.Tyr1552Ter)
NM_001164508.2(NEB):c.4661T>A (p.Leu1554Ter)
NM_001164508.2(NEB):c.4719+1G>A
NM_001164508.2(NEB):c.4719+2T>A
NM_001164508.2(NEB):c.4719+2T>C rs1553501889
NM_001164508.2(NEB):c.4729_4730insT (p.Lys1577fs)
NM_001164508.2(NEB):c.4765G>T (p.Gly1589Ter)
NM_001164508.2(NEB):c.4897del (p.Ser1633fs)
NM_001164508.2(NEB):c.4899_4903del (p.Val1634fs)
NM_001164508.2(NEB):c.4908_4912del (p.Ala1637fs)
NM_001164508.2(NEB):c.4916_4917insG (p.Ser1640fs)
NM_001164508.2(NEB):c.4922_4928del (p.Gln1641fs)
NM_001164508.2(NEB):c.496_499del (p.Gln166fs) rs1340063197
NM_001164508.2(NEB):c.498_507+18del
NM_001164508.2(NEB):c.4999del (p.His1667fs)
NM_001164508.2(NEB):c.5031+1G>A rs1553495140
NM_001164508.2(NEB):c.5031+2T>C rs2154178700
NM_001164508.2(NEB):c.507+1G>A rs1553689057
NM_001164508.2(NEB):c.507+2T>C
NM_001164508.2(NEB):c.508-1G>A
NM_001164508.2(NEB):c.5164A>T (p.Lys1722Ter)
NM_001164508.2(NEB):c.5170A>T (p.Lys1724Ter)
NM_001164508.2(NEB):c.5191dup (p.Thr1731fs)
NM_001164508.2(NEB):c.5200C>T (p.Gln1734Ter)
NM_001164508.2(NEB):c.5236A>T (p.Lys1746Ter)
NM_001164508.2(NEB):c.5239-1G>A
NM_001164508.2(NEB):c.5269A>T (p.Lys1757Ter)
NM_001164508.2(NEB):c.527G>A (p.Trp176Ter)
NM_001164508.2(NEB):c.5309T>A (p.Leu1770Ter) rs2154175437
NM_001164508.2(NEB):c.5343+5G>A rs2154175371
NM_001164508.2(NEB):c.5344-1G>A rs1197561990
NM_001164508.2(NEB):c.5349_5350del (p.Tyr1784fs)
NM_001164508.2(NEB):c.5434A>T (p.Arg1812Ter)
NM_001164508.2(NEB):c.5440_5441del (p.Ile1814fs)
NM_001164508.2(NEB):c.5451+1G>T
NM_001164508.2(NEB):c.5451+2_5451+11del rs1553487838
NM_001164508.2(NEB):c.5452-1G>A rs2154172894
NM_001164508.2(NEB):c.5452-2A>G rs1057517317
NM_001164508.2(NEB):c.5664del (p.Thr1889fs)
NM_001164508.2(NEB):c.5680_5696del (p.Arg1894fs)
NM_001164508.2(NEB):c.5722del (p.Ser1908fs) rs1553484601
NM_001164508.2(NEB):c.5763+1G>A rs2154172204
NM_001164508.2(NEB):c.5764-1G>A
NM_001164508.2(NEB):c.5764-2A>G
NM_001164508.2(NEB):c.5818_5828del (p.Leu1940fs)
NM_001164508.2(NEB):c.5839A>T (p.Lys1947Ter)
NM_001164508.2(NEB):c.5970+4A>G
NM_001164508.2(NEB):c.5983C>T (p.Gln1995Ter)
NM_001164508.2(NEB):c.6013_6015delinsT (p.His2005fs)
NM_001164508.2(NEB):c.6029del (p.Ile2010fs)
NM_001164508.2(NEB):c.6045_6048del (p.Ala2016fs)
NM_001164508.2(NEB):c.6075+1G>A rs1553472127
NM_001164508.2(NEB):c.6075+2T>G rs2154157623
NM_001164508.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
NM_001164508.2(NEB):c.612+1G>A rs1202331107
NM_001164508.2(NEB):c.613-1G>A rs767693366
NM_001164508.2(NEB):c.613-1G>C rs767693366
NM_001164508.2(NEB):c.613-2A>G rs752893483
NM_001164508.2(NEB):c.6183+1G>A rs557870969
NM_001164508.2(NEB):c.6183+1G>T
NM_001164508.2(NEB):c.6183+1del rs1553468960
NM_001164508.2(NEB):c.6183+2T>A rs1553468939
NM_001164508.2(NEB):c.6184-1G>A rs2154149413
NM_001164508.2(NEB):c.6208A>T (p.Lys2070Ter)
NM_001164508.2(NEB):c.624_627delinsAGCAGCACG (p.Glu209fs)
NM_001164508.2(NEB):c.632G>A (p.Trp211Ter)
NM_001164508.2(NEB):c.6353_6354insTTCATATT (p.Met2119fs)
NM_001164508.2(NEB):c.6356_6357del (p.Met2119fs)
NM_001164508.2(NEB):c.6405_6411del (p.Asn2136fs)
NM_001164508.2(NEB):c.6407_6410del (p.Asn2136fs)
NM_001164508.2(NEB):c.6411C>A (p.Tyr2137Ter)
NM_001164508.2(NEB):c.6427A>T (p.Lys2143Ter)
NM_001164508.2(NEB):c.6476_6477insTTATG (p.Met2159fs)
NM_001164508.2(NEB):c.6487C>T (p.Gln2163Ter)
NM_001164508.2(NEB):c.6505A>T (p.Lys2169Ter)
NM_001164508.2(NEB):c.6562G>T (p.Glu2188Ter)
NM_001164508.2(NEB):c.6568G>T (p.Glu2190Ter)
NM_001164508.2(NEB):c.6615_6624del (p.Gln2206fs)
NM_001164508.2(NEB):c.6616C>T (p.Gln2206Ter)
NM_001164508.2(NEB):c.6638delinsGTA (p.Phe2213fs)
NM_001164508.2(NEB):c.6644_6646delinsGACAG (p.Lys2215fs)
NM_001164508.2(NEB):c.6732_6736del (p.Lys2245fs)
NM_001164508.2(NEB):c.6759_6760insG (p.Thr2254fs)
NM_001164508.2(NEB):c.6808-2A>T rs1553457607
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer) rs1180339426
NM_001164508.2(NEB):c.6915+1G>A
NM_001164508.2(NEB):c.6916-2A>C
NM_001164508.2(NEB):c.7042A>T (p.Lys2348Ter)
NM_001164508.2(NEB):c.7054A>T (p.Lys2352Ter)
NM_001164508.2(NEB):c.7058G>A (p.Trp2353Ter)
NM_001164508.2(NEB):c.7075_7078del (p.Ser2359fs)
NM_001164508.2(NEB):c.7146del (p.Asn2383fs)
NM_001164508.2(NEB):c.717+1G>A rs1577833924
NM_001164508.2(NEB):c.7170T>A (p.Cys2390Ter)
NM_001164508.2(NEB):c.718-1G>A
NM_001164508.2(NEB):c.7227+2T>C rs1553448527
NM_001164508.2(NEB):c.7266_7268delinsTC (p.Gly2423fs) rs1057516348
NM_001164508.2(NEB):c.7329_7330del (p.Ser2443fs)
NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter) rs2154134234
NM_001164508.2(NEB):c.7432-1G>A rs2154122716
NM_001164508.2(NEB):c.7432-2A>G rs1553990438
NM_001164508.2(NEB):c.7511_7512del (p.Lys2504fs)
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs) rs878854368
NM_001164508.2(NEB):c.7536+1G>A
NM_001164508.2(NEB):c.7537A>T (p.Lys2513Ter)
NM_001164508.2(NEB):c.7601_7602insCCCCAGCTCTCTCC (p.Ile2536fs)
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter) rs1373493309
NM_001164508.2(NEB):c.7728_7729delinsA (p.Trp2576_Ser2577delinsTer) rs1553983416
NM_001164508.2(NEB):c.7813del (p.Asp2605fs)
NM_001164508.2(NEB):c.7948del (p.Gln2650fs)
NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys) rs1389374032
NM_001164508.2(NEB):c.7978_7979del (p.Gln2660fs)
NM_001164508.2(NEB):c.7982G>A (p.Trp2661Ter)
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.8111_8112del (p.Asp2704fs)
NM_001164508.2(NEB):c.822+1G>A rs2099762097
NM_001164508.2(NEB):c.823-2A>G rs1553642811
NM_001164508.2(NEB):c.8233_8234del (p.Leu2745fs)
NM_001164508.2(NEB):c.8239A>T (p.Lys2747Ter)
NM_001164508.2(NEB):c.8240_8241del (p.Lys2747fs)
NM_001164508.2(NEB):c.8265+1G>A rs1131691547
NM_001164508.2(NEB):c.8265+1G>T
NM_001164508.2(NEB):c.8350dup (p.Ala2784fs)
NM_001164508.2(NEB):c.835G>T (p.Glu279Ter)
NM_001164508.2(NEB):c.8373+1G>A rs2154112865
NM_001164508.2(NEB):c.8374-1G>A rs1180407562
NM_001164508.2(NEB):c.8392_8395dup (p.Arg2799fs) rs765403861
NM_001164508.2(NEB):c.8554del (p.Val2852fs)
NM_001164508.2(NEB):c.8569A>T (p.Lys2857Ter)
NM_001164508.2(NEB):c.8638C>T (p.Gln2880Ter)
NM_001164508.2(NEB):c.8686-2A>G
NM_001164508.2(NEB):c.8697del (p.Lys2899fs)
NM_001164508.2(NEB):c.8750_8751insGCAGCAG (p.Asp2917fs)
NM_001164508.2(NEB):c.8834_8835del (p.Val2945fs)
NM_001164508.2(NEB):c.8860del (p.Ala2954fs) rs1553964158
NM_001164508.2(NEB):c.8887A>T (p.Lys2963Ter) rs1553963973
NM_001164508.2(NEB):c.8889+1G>A rs1553963960
NM_001164508.2(NEB):c.8890-1G>A
NM_001164508.2(NEB):c.8994+1G>A rs2098817648
NM_001164508.2(NEB):c.8994+2T>C rs1553962493
NM_001164508.2(NEB):c.8995-1G>C
NM_001164508.2(NEB):c.9102+1G>A rs143644938
NM_001164508.2(NEB):c.9108del (p.Lys3036fs) rs1553948395
NM_001164508.2(NEB):c.9246G>A (p.Trp3082Ter) rs1553947423
NM_001164508.2(NEB):c.927+1G>A rs374562457
NM_001164508.2(NEB):c.927+1G>C
NM_001164508.2(NEB):c.9284del (p.Val3095fs)
NM_001164508.2(NEB):c.931A>T (p.Lys311Ter)
NM_001164508.2(NEB):c.9346G>T (p.Glu3116Ter) rs193042896
NM_001164508.2(NEB):c.9410del (p.Ser3137fs)
NM_001164508.2(NEB):c.9414+1G>A rs1255445731
NM_001164508.2(NEB):c.9415-1G>A
NM_001164508.2(NEB):c.9428C>G (p.Ser3143Ter) rs1553939806
NM_001164508.2(NEB):c.9440G>A (p.Trp3147Ter) rs1553939774
NM_001164508.2(NEB):c.9457dup (p.Trp3153fs) rs1553939660
NM_001164508.2(NEB):c.9459G>A (p.Trp3153Ter) rs1553939648
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001164508.2(NEB):c.9485del (p.Val3162fs) rs1553939284
NM_001164508.2(NEB):c.9507_9508dup (p.Ile3170fs)
NM_001164508.2(NEB):c.9576del (p.Glu3193fs) rs1553938571
NM_001164508.2(NEB):c.9580C>T (p.Gln3194Ter) rs2098659971
NM_001164508.2(NEB):c.9619-1G>A rs1390379576
NM_001164508.2(NEB):c.9638G>A (p.Trp3213Ter)
NM_001164508.2(NEB):c.9662del (p.His3221fs)
NM_001164508.2(NEB):c.9667del (p.Met3223fs)
NM_001164508.2(NEB):c.9721G>T (p.Glu3241Ter)
NM_001164508.2(NEB):c.9723+1G>A rs113803601
NM_001164508.2(NEB):c.9724-1G>A rs1553934586
NM_001164508.2(NEB):c.9724-2A>G rs1553934597
NM_001164508.2(NEB):c.9729_9731delinsCT (p.Tyr3244fs)
NM_001164508.2(NEB):c.9775C>T (p.Arg3259Ter) rs1301228529
NM_001164508.2(NEB):c.9775_9776del (p.Arg3259fs)
NM_001164508.2(NEB):c.9808_9809delinsTCTTTATGTT (p.Ala3270fs)
NM_001164508.2(NEB):c.9812C>T (p.Ser3271Phe)
NM_001164508.2(NEB):c.9831+1G>A rs1553933986
NM_001164508.2(NEB):c.985G>T (p.Glu329Ter)
NM_001164508.2(NEB):c.9943del (p.Asp3315fs) rs1553930053
NM_001271208.1(NEB):c.21103delG rs1553686994
NM_001271208.1(NEB):c.7291G>A rs767302772
NM_001271208.1(NEB):c.[7291G>A];[7523_7526delTCAA]

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