ClinVar Miner

List of variants in gene DST reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 455
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HGVS dbSNP gnomAD frequency
NM_001723.7(DST):c.3336G>C (p.Glu1112Asp) rs34767818 0.00349
NM_001374736.1(DST):c.21538A>G (p.Met7180Val) rs200006386 0.00141
NM_001374736.1(DST):c.742A>G (p.Ile248Val) rs112635185 0.00121
NM_001374736.1(DST):c.18433C>T (p.Arg6145Trp) rs193252082 0.00107
NM_001374736.1(DST):c.16495A>T (p.Ser5499Cys) rs180765536 0.00102
NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser) rs199628430 0.00095
NM_001374736.1(DST):c.2504G>A (p.Arg835His) rs41267671 0.00068
NM_001374736.1(DST):c.12043A>T (p.Ile4015Phe) rs201249286 0.00057
NM_001374736.1(DST):c.21364A>G (p.Ile7122Val) rs201703299 0.00047
NM_001374736.1(DST):c.15271G>A (p.Asp5091Asn) rs148831744 0.00046
NM_001374736.1(DST):c.5230C>A (p.Leu1744Met) rs75752366 0.00046
NM_001374736.1(DST):c.13609C>T (p.Leu4537Phe) rs367993147 0.00044
NM_001374736.1(DST):c.14005+6A>T rs377182814 0.00041
NM_001374736.1(DST):c.2125A>G (p.Met709Val) rs142650835 0.00039
NM_001374736.1(DST):c.13813A>G (p.Lys4605Glu) rs113849115 0.00038
NM_001374736.1(DST):c.13273A>G (p.Ile4425Val) rs182262649 0.00033
NM_001374736.1(DST):c.23432A>G (p.Lys7811Arg) rs201891015 0.00032
NM_001374736.1(DST):c.13928A>T (p.Asn4643Ile) rs147895709 0.00031
NM_001374736.1(DST):c.3168C>A (p.Asp1056Glu) rs147124522 0.00031
NM_001374736.1(DST):c.4046C>T (p.Ala1349Val) rs150656535 0.00029
NM_001374736.1(DST):c.13187A>C (p.Gln4396Pro) rs192539811 0.00028
NM_001374736.1(DST):c.13705G>A (p.Asp4569Asn) rs759202844 0.00025
NM_001374736.1(DST):c.18373G>A (p.Val6125Ile) rs530821760 0.00024
NM_001374736.1(DST):c.16342A>G (p.Met5448Val) rs202185251 0.00023
NM_001374736.1(DST):c.20542G>A (p.Glu6848Lys) rs201305293 0.00022
NM_001374736.1(DST):c.5182C>A (p.Gln1728Lys) rs768721876 0.00022
NM_001374736.1(DST):c.19656G>C (p.Glu6552Asp) rs199549741 0.00021
NM_001374736.1(DST):c.11831C>A (p.Ala3944Asp) rs181057912 0.00020
NM_001374736.1(DST):c.11941A>C (p.Lys3981Gln) rs149342331 0.00020
NM_001374736.1(DST):c.14731C>A (p.Pro4911Thr) rs201412680 0.00019
NM_001374736.1(DST):c.17450A>G (p.Gln5817Arg) rs761791970 0.00017
NM_001374736.1(DST):c.11681A>C (p.Gln3894Pro) rs201696158 0.00015
NM_001374736.1(DST):c.2950C>T (p.Arg984Trp) rs138162782 0.00015
NM_001374736.1(DST):c.14933C>T (p.Thr4978Met) rs202121891 0.00014
NM_001374736.1(DST):c.17801G>A (p.Arg5934Gln) rs537793986 0.00014
NM_001374736.1(DST):c.19842G>T (p.Gln6614His) rs376562335 0.00014
NM_001374736.1(DST):c.13970C>G (p.Thr4657Ser) rs528578142 0.00013
NM_001374736.1(DST):c.20392A>G (p.Lys6798Glu) rs560268832 0.00013
NM_001374736.1(DST):c.133G>A (p.Gly45Arg) rs139905357 0.00012
NM_001374736.1(DST):c.16059A>T (p.Leu5353Phe) rs773675349 0.00012
NM_001374736.1(DST):c.16465G>A (p.Gly5489Arg) rs374322914 0.00012
NM_001374736.1(DST):c.3853A>G (p.Asn1285Asp) rs201419873 0.00012
NM_001374736.1(DST):c.21260G>A (p.Arg7087His) rs199548754 0.00011
NM_001374736.1(DST):c.23405C>T (p.Thr7802Met) rs367598583 0.00011
NM_001374736.1(DST):c.3385C>A (p.His1129Asn) rs376394935 0.00011
NM_001374736.1(DST):c.4269A>G (p.Ile1423Met) rs546352116 0.00011
NM_001374736.1(DST):c.19406G>A (p.Arg6469Gln) rs767731448 0.00010
NM_001374736.1(DST):c.2095C>T (p.Arg699Cys) rs191160112 0.00010
NM_001374736.1(DST):c.4390C>T (p.Arg1464Trp) rs200316560 0.00010
NM_001374736.1(DST):c.4793G>A (p.Arg1598Gln) rs369264011 0.00010
NM_001374736.1(DST):c.12005A>C (p.Lys4002Thr) rs747125039 0.00009
NM_001374736.1(DST):c.12959C>T (p.Thr4320Met) rs544327450 0.00009
NM_001374736.1(DST):c.13064C>G (p.Ser4355Cys) rs200280141 0.00009
NM_001374736.1(DST):c.13262G>A (p.Arg4421His) rs373925692 0.00009
NM_001374736.1(DST):c.14407G>A (p.Ala4803Thr) rs773639256 0.00009
NM_001374736.1(DST):c.16409G>A (p.Ser5470Asn) rs769401147 0.00009
NM_001374736.1(DST):c.16922C>T (p.Ala5641Val) rs768150254 0.00009
NM_001374736.1(DST):c.2719C>T (p.Arg907Trp) rs775464446 0.00009
NM_001374736.1(DST):c.3904C>G (p.Arg1302Gly) rs746334674 0.00009
NM_001374736.1(DST):c.15902C>T (p.Ser5301Leu) rs112177059 0.00008
NM_001374736.1(DST):c.4120A>G (p.Met1374Val) rs138508306 0.00008
NM_001374736.1(DST):c.16742A>G (p.Asn5581Ser) rs201488187 0.00007
NM_001374736.1(DST):c.13114A>C (p.Ser4372Arg) rs759292785 0.00006
NM_001374736.1(DST):c.13499T>C (p.Leu4500Pro) rs758532940 0.00006
NM_001374736.1(DST):c.14800C>A (p.Gln4934Lys) rs199936602 0.00006
NM_001374736.1(DST):c.16477C>T (p.Arg5493Cys) rs186499004 0.00006
NM_001374736.1(DST):c.17783C>T (p.Ala5928Val) rs764588106 0.00006
NM_001374736.1(DST):c.18005C>T (p.Pro6002Leu) rs762167722 0.00006
NM_001374736.1(DST):c.20767G>A (p.Ala6923Thr) rs767948298 0.00006
NM_001374736.1(DST):c.22959+3A>G rs375303601 0.00006
NM_001374736.1(DST):c.2369T>G (p.Leu790Trp) rs757749439 0.00006
NM_001374736.1(DST):c.3184A>G (p.Met1062Val) rs141539535 0.00006
NM_001374736.1(DST):c.4651G>A (p.Glu1551Lys) rs375889300 0.00006
NM_001374736.1(DST):c.5029G>T (p.Ala1677Ser) rs370590691 0.00006
NM_001374736.1(DST):c.5033G>C (p.Gly1678Ala) rs751524469 0.00006
NM_001374736.1(DST):c.13532C>T (p.Thr4511Ile) rs200621004 0.00005
NM_001374736.1(DST):c.16175G>A (p.Arg5392Gln) rs201501487 0.00005
NM_001374736.1(DST):c.18213G>T (p.Glu6071Asp) rs373876039 0.00005
NM_001374736.1(DST):c.19346A>G (p.Lys6449Arg) rs775631178 0.00005
NM_001374736.1(DST):c.23075C>T (p.Thr7692Met) rs532258725 0.00005
NM_001374736.1(DST):c.2860-4G>C rs370134977 0.00005
NM_001374736.1(DST):c.11594A>G (p.Asp3865Gly) rs200000404 0.00004
NM_001374736.1(DST):c.11617C>T (p.Arg3873Cys) rs1334733744 0.00004
NM_001374736.1(DST):c.11965A>G (p.Lys3989Glu) rs768047839 0.00004
NM_001374736.1(DST):c.12647T>A (p.Val4216Asp) rs763299839 0.00004
NM_001374736.1(DST):c.12869C>T (p.Pro4290Leu) rs757864438 0.00004
NM_001374736.1(DST):c.14515A>G (p.Thr4839Ala) rs371655301 0.00004
NM_001374736.1(DST):c.16857G>A (p.Met5619Ile) rs376390192 0.00004
NM_001374736.1(DST):c.1779G>A (p.Arg593=) rs759216859 0.00004
NM_001374736.1(DST):c.18508A>G (p.Ile6170Val) rs374091334 0.00004
NM_001374736.1(DST):c.1864C>T (p.Leu622Phe) rs374009818 0.00004
NM_001374736.1(DST):c.20561A>G (p.Asn6854Ser) rs372049401 0.00004
NM_001374736.1(DST):c.20684G>T (p.Arg6895Leu) rs371273718 0.00004
NM_001374736.1(DST):c.20924C>T (p.Thr6975Ile) rs775114465 0.00004
NM_001374736.1(DST):c.20963T>G (p.Leu6988Arg) rs769301413 0.00004
NM_001374736.1(DST):c.21259C>T (p.Arg7087Cys) rs367591205 0.00004
NM_001374736.1(DST):c.2269C>T (p.Arg757Cys) rs758942872 0.00004
NM_001374736.1(DST):c.22939C>T (p.Pro7647Ser) rs201952309 0.00004
NM_001374736.1(DST):c.23228G>A (p.Arg7743Gln) rs762220017 0.00004
NM_001374736.1(DST):c.23264G>A (p.Arg7755His) rs369312019 0.00004
NM_001374736.1(DST):c.3580A>G (p.Ile1194Val) rs367873602 0.00004
NM_001374736.1(DST):c.5207A>G (p.Tyr1736Cys) rs570397443 0.00004
NM_001374736.1(DST):c.11704A>G (p.Lys3902Glu) rs375330871 0.00003
NM_001374736.1(DST):c.11995A>G (p.Asn3999Asp) rs763176189 0.00003
NM_001374736.1(DST):c.13591C>G (p.Leu4531Val) rs996209535 0.00003
NM_001374736.1(DST):c.16609-1G>T rs766657292 0.00003
NM_001374736.1(DST):c.17923G>A (p.Glu5975Lys) rs371243432 0.00003
NM_001374736.1(DST):c.18404T>G (p.Ile6135Ser) rs760688522 0.00003
NM_001374736.1(DST):c.18700G>A (p.Asp6234Asn) rs753185411 0.00003
NM_001374736.1(DST):c.18801G>T (p.Gln6267His) rs778466743 0.00003
NM_001374736.1(DST):c.19896+4C>T rs368685568 0.00003
NM_001374736.1(DST):c.20029C>T (p.Arg6677Cys) rs367862312 0.00003
NM_001374736.1(DST):c.20113G>A (p.Glu6705Lys) rs376734906 0.00003
NM_001374736.1(DST):c.21290G>A (p.Arg7097Gln) rs372651269 0.00003
NM_001374736.1(DST):c.21470G>A (p.Arg7157His) rs576138885 0.00003
NM_001374736.1(DST):c.21503C>G (p.Ala7168Gly) rs201982383 0.00003
NM_001374736.1(DST):c.22057A>G (p.Asn7353Asp) rs371310558 0.00003
NM_001374736.1(DST):c.22811G>A (p.Gly7604Asp) rs1477320329 0.00003
NM_001374736.1(DST):c.22979G>A (p.Arg7660His) rs746310021 0.00003
NM_001374736.1(DST):c.2534T>G (p.Val845Gly) rs776991432 0.00003
NM_001374736.1(DST):c.3631A>G (p.Met1211Val) rs779677898 0.00003
NM_001374736.1(DST):c.3851G>A (p.Arg1284Gln) rs369710658 0.00003
NM_001374736.1(DST):c.4227A>C (p.Glu1409Asp) rs777359107 0.00003
NM_001374736.1(DST):c.4750C>T (p.Arg1584Trp) rs200735287 0.00003
NM_001374736.1(DST):c.5048C>G (p.Ser1683Cys) rs764786907 0.00003
NM_001374736.1(DST):c.12091A>G (p.Ile4031Val) rs200798191 0.00002
NM_001374736.1(DST):c.12210G>T (p.Lys4070Asn) rs778224745 0.00002
NM_001374736.1(DST):c.13070A>G (p.Asn4357Ser) rs377510455 0.00002
NM_001374736.1(DST):c.13438G>A (p.Glu4480Lys) rs1291767235 0.00002
NM_001374736.1(DST):c.15300T>A (p.His5100Gln) rs375524719 0.00002
NM_001374736.1(DST):c.16574C>T (p.Thr5525Met) rs756527130 0.00002
NM_001374736.1(DST):c.16748G>A (p.Arg5583Gln) rs762460799 0.00002
NM_001374736.1(DST):c.17773C>G (p.Leu5925Val) rs375741323 0.00002
NM_001374736.1(DST):c.17804T>A (p.Leu5935Gln) rs763300533 0.00002
NM_001374736.1(DST):c.18249+3G>A rs200813187 0.00002
NM_001374736.1(DST):c.19942G>A (p.Val6648Ile) rs754970520 0.00002
NM_001374736.1(DST):c.20090G>A (p.Arg6697His) rs1224386090 0.00002
NM_001374736.1(DST):c.21662C>T (p.Ala7221Val) rs376556021 0.00002
NM_001374736.1(DST):c.22530G>C (p.Gln7510His) rs750236520 0.00002
NM_001374736.1(DST):c.23311G>A (p.Val7771Met) rs774765327 0.00002
NM_001374736.1(DST):c.2675A>C (p.Glu892Ala) rs1418398087 0.00002
NM_001374736.1(DST):c.3272G>A (p.Arg1091Lys) rs377642785 0.00002
NM_001374736.1(DST):c.3374C>T (p.Ala1125Val) rs766653025 0.00002
NM_001374736.1(DST):c.3662G>A (p.Ser1221Asn) rs778210177 0.00002
NM_001374736.1(DST):c.4142+4T>C rs202054385 0.00002
NM_001374736.1(DST):c.4958A>G (p.His1653Arg) rs772558729 0.00002
NM_001374736.1(DST):c.5098T>C (p.Ser1700Pro) rs369856118 0.00002
NM_001374736.1(DST):c.11678A>G (p.Tyr3893Cys) rs1276750380 0.00001
NM_001374736.1(DST):c.12833C>T (p.Ala4278Val) rs772339057 0.00001
NM_001374736.1(DST):c.12860C>T (p.Ala4287Val) rs760441270 0.00001
NM_001374736.1(DST):c.12940G>A (p.Val4314Ile) rs755123053 0.00001
NM_001374736.1(DST):c.13006A>G (p.Asn4336Asp) rs760290630 0.00001
NM_001374736.1(DST):c.13243G>A (p.Glu4415Lys) rs976294831 0.00001
NM_001374736.1(DST):c.13565C>A (p.Ser4522Tyr) rs751015571 0.00001
NM_001374736.1(DST):c.14033C>T (p.Thr4678Ile) rs1382596937 0.00001
NM_001374736.1(DST):c.14399C>A (p.Thr4800Asn) rs921342916 0.00001
NM_001374736.1(DST):c.14530G>A (p.Val4844Ile) rs1443283116 0.00001
NM_001374736.1(DST):c.15398A>G (p.Lys5133Arg) rs758523476 0.00001
NM_001374736.1(DST):c.15406T>G (p.Leu5136Val) rs750727762 0.00001
NM_001374736.1(DST):c.15528G>T (p.Glu5176Asp) rs748574567 0.00001
NM_001374736.1(DST):c.15781C>A (p.Leu5261Ile) rs762522099 0.00001
NM_001374736.1(DST):c.15784C>T (p.His5262Tyr) rs769516610 0.00001
NM_001374736.1(DST):c.16314C>G (p.Ser5438Arg) rs750722953 0.00001
NM_001374736.1(DST):c.16471A>G (p.Ile5491Val) rs754589018 0.00001
NM_001374736.1(DST):c.16534G>A (p.Glu5512Lys) rs375888742 0.00001
NM_001374736.1(DST):c.16634C>A (p.Pro5545His) rs776611722 0.00001
NM_001374736.1(DST):c.17221A>G (p.Ile5741Val) rs535045295 0.00001
NM_001374736.1(DST):c.17234C>T (p.Ala5745Val) rs1562586282 0.00001
NM_001374736.1(DST):c.17310C>A (p.His5770Gln) rs751772852 0.00001
NM_001374736.1(DST):c.17443C>A (p.Leu5815Ile) rs750180346 0.00001
NM_001374736.1(DST):c.17939C>G (p.Ala5980Gly) rs778663720 0.00001
NM_001374736.1(DST):c.17974G>A (p.Glu5992Lys) rs1272059049 0.00001
NM_001374736.1(DST):c.18023G>A (p.Gly6008Glu) rs746414483 0.00001
NM_001374736.1(DST):c.18177A>T (p.Glu6059Asp) rs1275339494 0.00001
NM_001374736.1(DST):c.18511A>G (p.Ile6171Val) rs1293840172 0.00001
NM_001374736.1(DST):c.18673T>G (p.Ser6225Ala) rs1033335791 0.00001
NM_001374736.1(DST):c.18938A>G (p.Tyr6313Cys) rs781596409 0.00001
NM_001374736.1(DST):c.19178G>A (p.Arg6393Gln) rs759918675 0.00001
NM_001374736.1(DST):c.19466C>T (p.Ala6489Val) rs766294952 0.00001
NM_001374736.1(DST):c.1957C>T (p.Arg653Cys) rs377406538 0.00001
NM_001374736.1(DST):c.1964A>C (p.His655Pro) rs1236723592 0.00001
NM_001374736.1(DST):c.20551-3A>C rs1192992788 0.00001
NM_001374736.1(DST):c.20560A>C (p.Asn6854His) rs765658361 0.00001
NM_001374736.1(DST):c.20993T>C (p.Met6998Thr) rs1408048571 0.00001
NM_001374736.1(DST):c.21269G>A (p.Arg7090Gln) rs377289456 0.00001
NM_001374736.1(DST):c.21337C>T (p.Arg7113Cys) rs1340867606 0.00001
NM_001374736.1(DST):c.21658C>T (p.Arg7220Trp) rs368902741 0.00001
NM_001374736.1(DST):c.21689C>T (p.Ala7230Val) rs780577131 0.00001
NM_001374736.1(DST):c.22288C>T (p.Arg7430Trp) rs754663787 0.00001
NM_001374736.1(DST):c.22363A>G (p.Ile7455Val) rs779438104 0.00001
NM_001374736.1(DST):c.22978C>T (p.Arg7660Cys) rs768405206 0.00001
NM_001374736.1(DST):c.2302C>T (p.Pro768Ser) rs200526721 0.00001
NM_001374736.1(DST):c.23263C>T (p.Arg7755Cys) rs868335418 0.00001
NM_001374736.1(DST):c.2332T>C (p.Phe778Leu) rs748870367 0.00001
NM_001374736.1(DST):c.23360G>A (p.Arg7787Gln) rs375978950 0.00001
NM_001374736.1(DST):c.3064_3066dup (p.Phe1022dup) rs1269232848 0.00001
NM_001374736.1(DST):c.3121C>T (p.Arg1041Trp) rs770477088 0.00001
NM_001374736.1(DST):c.4064C>G (p.Pro1355Arg) rs369954504 0.00001
NM_001374736.1(DST):c.4205A>G (p.Tyr1402Cys) rs2098767617 0.00001
NM_001374736.1(DST):c.4751G>A (p.Arg1584Gln) rs754965874 0.00001
NM_001374736.1(DST):c.4833C>G (p.Phe1611Leu) rs1563270846 0.00001
NM_001374736.1(DST):c.5099C>T (p.Ser1700Leu) rs763411218 0.00001
NM_001374736.1(DST):c.104T>G (p.Phe35Cys)
NM_001374736.1(DST):c.109T>C (p.Cys37Arg)
NM_001374736.1(DST):c.1142G>A (p.Gly381Glu)
NM_001374736.1(DST):c.1147C>T (p.Arg383Trp)
NM_001374736.1(DST):c.11597T>G (p.Leu3866Arg)
NM_001374736.1(DST):c.11818A>C (p.Lys3940Gln)
NM_001374736.1(DST):c.11866G>C (p.Glu3956Gln)
NM_001374736.1(DST):c.11903C>T (p.Thr3968Ile) rs2098413772
NM_001374736.1(DST):c.11986T>A (p.Trp3996Arg)
NM_001374736.1(DST):c.119G>T (p.Arg40Leu)
NM_001374736.1(DST):c.12004A>G (p.Lys4002Glu)
NM_001374736.1(DST):c.12023G>A (p.Gly4008Glu)
NM_001374736.1(DST):c.12047A>G (p.Glu4016Gly)
NM_001374736.1(DST):c.12229G>C (p.Ala4077Pro)
NM_001374736.1(DST):c.1238C>T (p.Thr413Ile)
NM_001374736.1(DST):c.12512T>C (p.Met4171Thr)
NM_001374736.1(DST):c.12631_12645del (p.Arg4211_Lys4215del) rs763288106
NM_001374736.1(DST):c.12646G>C (p.Val4216Leu)
NM_001374736.1(DST):c.12656C>G (p.Ser4219Cys)
NM_001374736.1(DST):c.12665A>G (p.His4222Arg)
NM_001374736.1(DST):c.12703C>G (p.Arg4235Gly) rs778888568
NM_001374736.1(DST):c.12703C>T (p.Arg4235Trp) rs778888568
NM_001374736.1(DST):c.12779A>G (p.Tyr4260Cys)
NM_001374736.1(DST):c.12829A>G (p.Thr4277Ala)
NM_001374736.1(DST):c.128A>G (p.Gln43Arg)
NM_001374736.1(DST):c.12903+5A>G
NM_001374736.1(DST):c.12965_12967del (p.Glu4322del)
NM_001374736.1(DST):c.13036G>A (p.Val4346Ile)
NM_001374736.1(DST):c.13062G>C (p.Lys4354Asn) rs745945210
NM_001374736.1(DST):c.1310G>A (p.Arg437Lys)
NM_001374736.1(DST):c.13118T>A (p.Val4373Glu)
NM_001374736.1(DST):c.13165A>G (p.Ser4389Gly)
NM_001374736.1(DST):c.13220T>G (p.Ile4407Ser)
NM_001374736.1(DST):c.13255_13256delinsTT (p.Ala4419Leu) rs2152614644
NM_001374736.1(DST):c.13322C>A (p.Pro4441Gln)
NM_001374736.1(DST):c.13430C>A (p.Thr4477Asn) rs2097797774
NM_001374736.1(DST):c.13511A>G (p.Asp4504Gly)
NM_001374736.1(DST):c.13604A>G (p.His4535Arg)
NM_001374736.1(DST):c.13628G>A (p.Ser4543Asn)
NM_001374736.1(DST):c.13801G>A (p.Glu4601Lys) rs892801869
NM_001374736.1(DST):c.13825G>A (p.Val4609Ile) rs1031797194
NM_001374736.1(DST):c.13856G>A (p.Gly4619Glu)
NM_001374736.1(DST):c.13885C>A (p.Gln4629Lys) rs1207366191
NM_001374736.1(DST):c.13956A>C (p.Leu4652Phe)
NM_001374736.1(DST):c.14030G>A (p.Gly4677Glu)
NM_001374736.1(DST):c.14092A>T (p.Met4698Leu)
NM_001374736.1(DST):c.14392C>T (p.Pro4798Ser) rs372505269
NM_001374736.1(DST):c.14398A>G (p.Thr4800Ala)
NM_001374736.1(DST):c.14402C>T (p.Pro4801Leu)
NM_001374736.1(DST):c.1441G>C (p.Glu481Gln)
NM_001374736.1(DST):c.14441-7_14441-6del rs773495985
NM_001374736.1(DST):c.14451G>T (p.Trp4817Cys)
NM_001374736.1(DST):c.14459T>G (p.Leu4820Arg)
NM_001374736.1(DST):c.14501C>A (p.Ser4834Tyr) rs1290750029
NM_001374736.1(DST):c.14540A>C (p.Gln4847Pro)
NM_001374736.1(DST):c.1454T>C (p.Ile485Thr)
NM_001374736.1(DST):c.14584C>A (p.Leu4862Ile)
NM_001374736.1(DST):c.14591C>A (p.Pro4864His)
NM_001374736.1(DST):c.14650C>G (p.Gln4884Glu)
NM_001374736.1(DST):c.14660C>G (p.Ala4887Gly)
NM_001374736.1(DST):c.14680G>A (p.Glu4894Lys)
NM_001374736.1(DST):c.1468A>G (p.Met490Val)
NM_001374736.1(DST):c.14740C>T (p.Arg4914Cys)
NM_001374736.1(DST):c.14785_14786delinsTT (p.Asp4929Phe)
NM_001374736.1(DST):c.14937C>A (p.His4979Gln)
NM_001374736.1(DST):c.14947A>C (p.Met4983Leu) rs188156383
NM_001374736.1(DST):c.14947A>G (p.Met4983Val) rs188156383
NM_001374736.1(DST):c.15094G>A (p.Glu5032Lys)
NM_001374736.1(DST):c.1513A>G (p.Met505Val)
NM_001374736.1(DST):c.15149A>C (p.Gln5050Pro)
NM_001374736.1(DST):c.15163G>A (p.Ala5055Thr) rs2152556412
NM_001374736.1(DST):c.15359A>G (p.Glu5120Gly)
NM_001374736.1(DST):c.15491C>T (p.Ser5164Leu)
NM_001374736.1(DST):c.1554+4A>G
NM_001374736.1(DST):c.15645G>A (p.Met5215Ile)
NM_001374736.1(DST):c.15689A>G (p.Asn5230Ser)
NM_001374736.1(DST):c.1568A>G (p.Gln523Arg)
NM_001374736.1(DST):c.15690T>G (p.Asn5230Lys)
NM_001374736.1(DST):c.15811A>G (p.Met5271Val)
NM_001374736.1(DST):c.15938C>T (p.Thr5313Ile)
NM_001374736.1(DST):c.1594A>T (p.Ile532Phe)
NM_001374736.1(DST):c.16011G>C (p.Gln5337His)
NM_001374736.1(DST):c.16052A>G (p.Asp5351Gly)
NM_001374736.1(DST):c.16181T>C (p.Met5394Thr)
NM_001374736.1(DST):c.16318G>T (p.Asp5440Tyr)
NM_001374736.1(DST):c.16319A>C (p.Asp5440Ala)
NM_001374736.1(DST):c.16344G>T (p.Met5448Ile)
NM_001374736.1(DST):c.16367C>T (p.Ser5456Phe)
NM_001374736.1(DST):c.16370C>T (p.Pro5457Leu)
NM_001374736.1(DST):c.16478G>A (p.Arg5493His) rs754436072
NM_001374736.1(DST):c.16516A>G (p.Ile5506Val)
NM_001374736.1(DST):c.16609-4G>T
NM_001374736.1(DST):c.16723C>G (p.His5575Asp)
NM_001374736.1(DST):c.16765A>G (p.Lys5589Glu)
NM_001374736.1(DST):c.16770+5T>C rs769121936
NM_001374736.1(DST):c.16771-3del
NM_001374736.1(DST):c.167G>A (p.Arg56His)
NM_001374736.1(DST):c.16802C>A (p.Ala5601Asp)
NM_001374736.1(DST):c.16846C>T (p.Leu5616Phe)
NM_001374736.1(DST):c.16945C>G (p.Leu5649Val)
NM_001374736.1(DST):c.1705A>G (p.Ile569Val)
NM_001374736.1(DST):c.17126G>T (p.Gly5709Val)
NM_001374736.1(DST):c.17247_17249del (p.Glu5750del)
NM_001374736.1(DST):c.17269-3T>A rs373884076
NM_001374736.1(DST):c.17287A>G (p.Ile5763Val)
NM_001374736.1(DST):c.17296A>G (p.Asn5766Asp)
NM_001374736.1(DST):c.17301A>C (p.Lys5767Asn)
NM_001374736.1(DST):c.17368A>G (p.Met5790Val)
NM_001374736.1(DST):c.1738A>G (p.Met580Val)
NM_001374736.1(DST):c.17500A>G (p.Met5834Val)
NM_001374736.1(DST):c.17504A>G (p.Asn5835Ser)
NM_001374736.1(DST):c.17564A>T (p.Glu5855Val)
NM_001374736.1(DST):c.17595G>A (p.Arg5865=)
NM_001374736.1(DST):c.17611A>G (p.Ile5871Val)
NM_001374736.1(DST):c.17635G>C (p.Asp5879His)
NM_001374736.1(DST):c.17680+6A>T
NM_001374736.1(DST):c.17681-5T>G
NM_001374736.1(DST):c.1768G>A (p.Glu590Lys)
NM_001374736.1(DST):c.17698A>C (p.Ile5900Leu)
NM_001374736.1(DST):c.17872A>T (p.Thr5958Ser)
NM_001374736.1(DST):c.17933A>C (p.Lys5978Thr)
NM_001374736.1(DST):c.1804A>G (p.Asn602Asp)
NM_001374736.1(DST):c.18129+3A>G
NM_001374736.1(DST):c.182-5C>T
NM_001374736.1(DST):c.1822A>G (p.Ser608Gly)
NM_001374736.1(DST):c.18260T>C (p.Met6087Thr)
NM_001374736.1(DST):c.1838A>G (p.Asp613Gly)
NM_001374736.1(DST):c.18503A>C (p.Gln6168Pro)
NM_001374736.1(DST):c.18583C>T (p.Arg6195Cys)
NM_001374736.1(DST):c.18742G>T (p.Ala6248Ser)
NM_001374736.1(DST):c.18757G>A (p.Glu6253Lys)
NM_001374736.1(DST):c.18821G>A (p.Arg6274His)
NM_001374736.1(DST):c.18823A>T (p.Ile6275Phe)
NM_001374736.1(DST):c.18832C>T (p.Arg6278Cys)
NM_001374736.1(DST):c.19131T>A (p.Asp6377Glu)
NM_001374736.1(DST):c.19136T>C (p.Met6379Thr)
NM_001374736.1(DST):c.19137G>A (p.Met6379Ile)
NM_001374736.1(DST):c.19143G>C (p.Leu6381Phe)
NM_001374736.1(DST):c.19262G>A (p.Gly6421Glu)
NM_001374736.1(DST):c.19293C>G (p.Asn6431Lys)
NM_001374736.1(DST):c.1936C>G (p.Leu646Val)
NM_001374736.1(DST):c.19435G>A (p.Ala6479Thr)
NM_001374736.1(DST):c.194G>A (p.Arg65Lys)
NM_001374736.1(DST):c.19519A>G (p.Ile6507Val)
NM_001374736.1(DST):c.1951C>T (p.Leu651Phe) rs767375796
NM_001374736.1(DST):c.19538C>T (p.Thr6513Ile) rs200108872
NM_001374736.1(DST):c.19797G>C (p.Glu6599Asp)
NM_001374736.1(DST):c.19860C>G (p.Asp6620Glu)
NM_001374736.1(DST):c.1988T>C (p.Ile663Thr)
NM_001374736.1(DST):c.19967T>C (p.Ile6656Thr) rs1420001114
NM_001374736.1(DST):c.1997A>G (p.Lys666Arg)
NM_001374736.1(DST):c.20089C>T (p.Arg6697Cys)
NM_001374736.1(DST):c.20205G>T (p.Glu6735Asp) rs1324486479
NM_001374736.1(DST):c.20212A>G (p.Asn6738Asp)
NM_001374736.1(DST):c.20251G>A (p.Glu6751Lys)
NM_001374736.1(DST):c.20287_20289delinsTAT (p.Gln6763Tyr)
NM_001374736.1(DST):c.20324A>G (p.Asn6775Ser)
NM_001374736.1(DST):c.20349G>C (p.Leu6783Phe)
NM_001374736.1(DST):c.20384A>G (p.Asn6795Ser) rs749808366
NM_001374736.1(DST):c.20404G>A (p.Glu6802Lys)
NM_001374736.1(DST):c.20550+4T>C
NM_001374736.1(DST):c.20579G>A (p.Arg6860His)
NM_001374736.1(DST):c.20783T>A (p.Met6928Lys) rs763176568
NM_001374736.1(DST):c.20833G>A (p.Ala6945Thr)
NM_001374736.1(DST):c.21011A>G (p.Asp7004Gly)
NM_001374736.1(DST):c.21145G>A (p.Ala7049Thr)
NM_001374736.1(DST):c.21207+1G>T
NM_001374736.1(DST):c.21428A>C (p.His7143Pro)
NM_001374736.1(DST):c.21509G>A (p.Arg7170Gln) rs201690182
NM_001374736.1(DST):c.21625A>T (p.Ile7209Phe)
NM_001374736.1(DST):c.21656T>A (p.Ile7219Asn)
NM_001374736.1(DST):c.21767C>T (p.Ala7256Val)
NM_001374736.1(DST):c.21826G>A (p.Glu7276Lys)
NM_001374736.1(DST):c.21914C>T (p.Thr7305Met)
NM_001374736.1(DST):c.21967C>G (p.Pro7323Ala)
NM_001374736.1(DST):c.22159C>A (p.Leu7387Met)
NM_001374736.1(DST):c.2228C>G (p.Ser743Cys) rs758509873
NM_001374736.1(DST):c.22609C>T (p.Arg7537Trp)
NM_001374736.1(DST):c.22639G>A (p.Gly7547Arg)
NM_001374736.1(DST):c.2270G>A (p.Arg757His) rs765317346
NM_001374736.1(DST):c.2270G>T (p.Arg757Leu)
NM_001374736.1(DST):c.22777A>C (p.Met7593Leu)
NM_001374736.1(DST):c.22877C>T (p.Ala7626Val)
NM_001374736.1(DST):c.22886A>G (p.Asn7629Ser) rs1270972086
NM_001374736.1(DST):c.22954C>T (p.Pro7652Ser)
NM_001374736.1(DST):c.22959+4A>G
NM_001374736.1(DST):c.23027G>A (p.Cys7676Tyr)
NM_001374736.1(DST):c.23060C>T (p.Pro7687Leu)
NM_001374736.1(DST):c.23071-5dup
NM_001374736.1(DST):c.23146A>G (p.Ser7716Gly)
NM_001374736.1(DST):c.23195-6C>T
NM_001374736.1(DST):c.23205G>T (p.Lys7735Asn) rs1476392770
NM_001374736.1(DST):c.2324T>C (p.Val775Ala)
NM_001374736.1(DST):c.23348G>C (p.Arg7783Thr)
NM_001374736.1(DST):c.23426C>A (p.Ala7809Asp)
NM_001374736.1(DST):c.2377A>T (p.Met793Leu) rs1587521606
NM_001374736.1(DST):c.257C>G (p.Ala86Gly)
NM_001374736.1(DST):c.2600A>G (p.Lys867Arg)
NM_001374736.1(DST):c.2619+4T>C
NM_001374736.1(DST):c.274C>T (p.Arg92Cys)
NM_001374736.1(DST):c.2905G>A (p.Val969Ile)
NM_001374736.1(DST):c.2912A>G (p.Glu971Gly)
NM_001374736.1(DST):c.2923C>A (p.Gln975Lys)
NM_001374736.1(DST):c.2951G>A (p.Arg984Gln) rs768679542
NM_001374736.1(DST):c.2965-6T>C rs2098828864
NM_001374736.1(DST):c.3181T>A (p.Ser1061Thr)
NM_001374736.1(DST):c.3238G>A (p.Gly1080Arg)
NM_001374736.1(DST):c.3517G>A (p.Val1173Ile)
NM_001374736.1(DST):c.356A>G (p.Lys119Arg)
NM_001374736.1(DST):c.3575A>G (p.Tyr1192Cys)
NM_001374736.1(DST):c.3610A>T (p.Asn1204Tyr)
NM_001374736.1(DST):c.3886C>G (p.Arg1296Gly) rs200853096
NM_001374736.1(DST):c.3938G>T (p.Ser1313Ile)
NM_001374736.1(DST):c.3955G>C (p.Glu1319Gln)
NM_001374736.1(DST):c.3986G>T (p.Arg1329Leu)
NM_001374736.1(DST):c.4067C>G (p.Thr1356Ser)
NM_001374736.1(DST):c.40A>G (p.Ser14Gly)
NM_001374736.1(DST):c.4189G>A (p.Ala1397Thr)
NM_001374736.1(DST):c.4229A>C (p.Glu1410Ala)
NM_001374736.1(DST):c.4281+5G>A
NM_001374736.1(DST):c.428A>G (p.Asn143Ser)
NM_001374736.1(DST):c.4364A>G (p.Asp1455Gly)
NM_001374736.1(DST):c.4375A>C (p.Lys1459Gln)
NM_001374736.1(DST):c.4382A>G (p.Tyr1461Cys)
NM_001374736.1(DST):c.4388A>G (p.Glu1463Gly)
NM_001374736.1(DST):c.4448A>G (p.Gln1483Arg)
NM_001374736.1(DST):c.448A>G (p.Met150Val)
NM_001374736.1(DST):c.4638+6T>C
NM_001374736.1(DST):c.4641G>A (p.Met1547Ile)
NM_001374736.1(DST):c.4676T>C (p.Met1559Thr)
NM_001374736.1(DST):c.4711G>A (p.Ala1571Thr)
NM_001374736.1(DST):c.4763A>G (p.Asp1588Gly)
NM_001374736.1(DST):c.4816C>T (p.Leu1606Phe)
NM_001374736.1(DST):c.4852T>C (p.Tyr1618His) rs776786063
NM_001374736.1(DST):c.4936C>A (p.Leu1646Met)
NM_001374736.1(DST):c.4985A>C (p.Lys1662Thr)
NM_001374736.1(DST):c.5020G>T (p.Ala1674Ser)
NM_001374736.1(DST):c.5076A>G (p.Ile1692Met)
NM_001374736.1(DST):c.5261G>C (p.Gly1754Ala)
NM_001374736.1(DST):c.608C>T (p.Ala203Val)
NM_001374736.1(DST):c.626-3C>T
NM_001374736.1(DST):c.631C>T (p.Arg211Trp)
NM_001374736.1(DST):c.667A>G (p.Ile223Val)
NM_001374736.1(DST):c.692G>A (p.Arg231Gln)
NM_001374736.1(DST):c.748C>G (p.Leu250Val)
NM_001374736.1(DST):c.877-3T>A
NM_001374736.1(DST):c.877-5C>G
NM_001374736.1(DST):c.882A>C (p.Arg294Ser)
NM_001374736.1(DST):c.892C>T (p.Arg298Trp)
NM_001374736.1(DST):c.898C>T (p.Arg300Cys)
NM_001374736.1(DST):c.950G>A (p.Arg317His)
NM_001374736.1(DST):c.954+6A>C
NM_001374736.1(DST):c.98TCT[2] (p.Phe35del)

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