ClinVar Miner

List of variants in gene NEB, RIF1 studied for muscle tissue disorder

Included ClinVar conditions (1094):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2138
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HGVS dbSNP gnomAD frequency
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.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.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_001164508.2(NEB):c.21522+78C>G rs60806638 0.55600
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
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.25150+12G>A rs4414676 0.07283
NM_001164508.2(NEB):c.25395T>G (p.Ser8465=) rs13031275 0.03886
NM_001164508.2(NEB):c.21963A>G (p.Lys7321=) rs61730765 0.03096
NM_001164508.2(NEB):c.21382T>C (p.Leu7128=) rs114218081 0.02752
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu) rs41270201 0.01730
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn) rs35625617 0.01691
NM_001164508.2(NEB):c.23511G>A (p.Thr7837=) rs35808744 0.01201
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile) rs34368668 0.01129
NM_001164508.2(NEB):c.21519C>T (p.Ser7173=) rs16830170 0.00961
NM_001164508.2(NEB):c.*212T>C rs1061317 0.00811
NM_001164508.2(NEB):c.24208-7C>T rs113048349 0.00793
NM_001164508.2(NEB):c.24264G>A (p.Met8088Ile) rs144709880 0.00436
NM_001164508.2(NEB):c.22904G>A (p.Gly7635Glu) rs3732309 0.00351
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu) rs192402741 0.00334
NM_001164508.2(NEB):c.*201A>T rs190132249 0.00311
NM_001164508.2(NEB):c.24056C>T (p.Pro8019Leu) rs189655274 0.00280
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_001164508.2(NEB):c.22050+13C>T rs113403461 0.00197
NM_001164508.2(NEB):c.25542C>T (p.Thr8514=) rs3821324 0.00183
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) rs201979610 0.00182
NM_001164508.2(NEB):c.22800+9A>G rs144303545 0.00177
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser) rs143602832 0.00177
NM_001164508.2(NEB):c.23599A>C (p.Lys7867Gln) rs118191309 0.00171
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=) rs185574478 0.00145
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_001164508.2(NEB):c.24874-8C>T rs200902944 0.00134
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=) rs201825451 0.00123
NM_001164508.2(NEB):c.*57C>T rs566096042 0.00111
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_001164508.2(NEB):c.21673A>T (p.Thr7225Ser) rs187977960 0.00107
NM_001164508.2(NEB):c.21840+13A>C rs75515097 0.00104
NM_001164508.2(NEB):c.21419T>C (p.Ile7140Thr) rs200112795 0.00077
NM_001164508.2(NEB):c.25161G>A (p.Gln8387=) rs376897146 0.00076
NM_001164508.2(NEB):c.25289T>C (p.Val8430Ala) rs151338614 0.00075
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=) rs201400523 0.00072
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln) rs200963111 0.00064
NM_001164508.2(NEB):c.23241+16C>T rs75221580 0.00061
NM_001164508.2(NEB):c.23451+14A>C rs190098609 0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys) rs184516994 0.00050
NM_001164508.2(NEB):c.23418G>T (p.Gln7806His) rs765789028 0.00044
NM_001164508.2(NEB):c.23557-3C>G rs374499643 0.00044
NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys) rs201419564 0.00038
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile) rs189609282 0.00037
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu) rs373946758 0.00035
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr) rs142454476 0.00035
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg) rs201714437 0.00035
NM_001164508.2(NEB):c.22548G>C (p.Gln7516His) rs200776925 0.00031
NM_001164508.2(NEB):c.21522T>C (p.Asp7174=) rs185169373 0.00029
NM_001164508.2(NEB):c.22647G>A (p.Glu7549=) rs201688876 0.00029
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=) rs370873040 0.00029
NM_001164508.2(NEB):c.21838G>A (p.Asp7280Asn) rs200945025 0.00028
NM_001164508.2(NEB):c.24487-12G>T rs534797175 0.00028
NM_001164508.2(NEB):c.24453G>A (p.Glu8151=) rs372540293 0.00027
NM_001164508.2(NEB):c.24897G>C (p.Glu8299Asp) rs202145313 0.00026
NM_001164508.2(NEB):c.22108C>G (p.Pro7370Ala) rs200304547 0.00024
NM_001164508.2(NEB):c.23648C>T (p.Ser7883Leu) rs202191938 0.00024
NM_001164508.2(NEB):c.25141A>C (p.Met8381Leu) rs147872436 0.00024
NM_001164507.2(NEB):c.21387G>C (p.Leu7129=) rs200792421 0.00023
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp) rs201189784 0.00022
NM_001164508.2(NEB):c.21664T>A (p.Ser7222Thr) rs191722579 0.00021
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys) rs202050860 0.00021
NM_001164508.2(NEB):c.23242-15G>A rs370467068 0.00021
NM_001164508.2(NEB):c.21371G>A (p.Arg7124His) rs201094791 0.00020
NM_001164508.2(NEB):c.25359A>C (p.Gln8453His) rs377748897 0.00019
NM_001164508.2(NEB):c.21491G>A (p.Arg7164His) rs16830171 0.00018
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu) rs199957886 0.00018
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr) rs199937246 0.00018
NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys) rs770023115 0.00017
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu) rs367626762 0.00016
NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala) rs200269437 0.00016
NM_001164508.2(NEB):c.24841C>T (p.Arg8281Trp) rs200165006 0.00016
NM_001164508.2(NEB):c.22535C>T (p.Pro7512Leu) rs376609115 0.00015
NM_001164508.2(NEB):c.21861G>A (p.Arg7287=) rs372808358 0.00014
NM_001164508.2(NEB):c.22642A>G (p.Lys7548Glu) rs201976154 0.00014
NM_001164508.2(NEB):c.23742+11T>C rs374368246 0.00013
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu) rs886038447 0.00012
NM_001164508.2(NEB):c.24108T>C (p.Phe8036=) rs748169663 0.00012
NM_001164508.2(NEB):c.25055C>T (p.Thr8352Ile) rs372762302 0.00012
NM_001164508.2(NEB):c.21579C>T (p.His7193=) rs372877088 0.00011
NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu) rs202137113 0.00011
NM_001164508.2(NEB):c.23928+14G>A rs538314913 0.00011
NM_001164508.2(NEB):c.24207+17G>C rs373742185 0.00011
NM_001164508.2(NEB):c.24615C>T (p.Pro8205=) rs371270146 0.00011
NM_001164508.2(NEB):c.24757A>G (p.Ile8253Val) rs551649582 0.00011
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp) rs373551215 0.00011
NM_001164508.2(NEB):c.21525C>T (p.Ile7175=) rs369183371 0.00010
NM_001164508.2(NEB):c.23055G>A (p.Gly7685=) rs563896790 0.00010
NM_001164508.2(NEB):c.24873G>A (p.Thr8291=) rs779321695 0.00010
NM_001164508.2(NEB):c.25564G>A (p.Val8522Ile) rs117861109 0.00010
NM_001164508.2(NEB):c.21418-17T>C rs374003090 0.00009
NM_001164508.2(NEB):c.21757G>A (p.Glu7253Lys) rs745791097 0.00009
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_001164508.2(NEB):c.23017-3T>C rs111314898 0.00009
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe) rs201028196 0.00009
NM_001164508.2(NEB):c.23770G>A (p.Gly7924Ser) rs369602540 0.00009
NM_001164508.2(NEB):c.23812C>T (p.Arg7938Cys) rs372117694 0.00009
NM_001164508.2(NEB):c.23835+13A>G rs368353531 0.00009
NM_001164508.2(NEB):c.24114+1G>A rs755239192 0.00009
NM_001164508.2(NEB):c.24570C>T (p.Asn8190=) rs201566336 0.00009
NM_001164508.2(NEB):c.24623T>G (p.Phe8208Cys) rs376664167 0.00009
NM_001164508.2(NEB):c.25163G>A (p.Arg8388His) rs139333406 0.00009
NM_001164508.2(NEB):c.25405-7C>T rs372113031 0.00009
NM_001164507.2(NEB):c.21396C>T (p.Thr7132=) rs759637718 0.00008
NM_001164508.2(NEB):c.22341G>C (p.Lys7447Asn) rs544200886 0.00008
NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp) rs200559481 0.00008
NM_001164508.2(NEB):c.24186C>A (p.His8062Gln) rs557951728 0.00008
NM_001164508.2(NEB):c.21321T>C (p.Tyr7107=) rs372326115 0.00007
NM_001164508.2(NEB):c.22004C>T (p.Thr7335Met) rs767584361 0.00007
NM_001164508.2(NEB):c.22050+14G>A rs542106802 0.00007
NM_001164508.2(NEB):c.22273-10C>T rs781520817 0.00007
NM_001164508.2(NEB):c.23127+4G>A rs764457781 0.00007
NM_001164508.2(NEB):c.23378T>C (p.Met7793Thr) rs536677256 0.00007
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln) rs372284984 0.00006
NM_001164508.2(NEB):c.21337A>G (p.Met7113Val) rs750039342 0.00006
NM_001164508.2(NEB):c.22037A>T (p.Asn7346Ile) rs140982447 0.00006
NM_001164508.2(NEB):c.22187A>G (p.Lys7396Arg) rs201548700 0.00006
NM_001164508.2(NEB):c.22832G>A (p.Arg7611Gln) rs766072117 0.00006
NM_001164508.2(NEB):c.23048T>C (p.Ile7683Thr) rs374941096 0.00006
NM_001164508.2(NEB):c.23051G>A (p.Arg7684His) rs372699411 0.00006
NM_001164508.2(NEB):c.23083C>A (p.Pro7695Thr) rs757006805 0.00006
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_001164508.2(NEB):c.23967A>G (p.Leu7989=) rs769117795 0.00006
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter) rs1458048713 0.00006
NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile) rs758996758 0.00006
NM_001164508.2(NEB):c.24909T>C (p.Gly8303=) rs754365974 0.00006
NM_001164508.2(NEB):c.25260G>A (p.Ser8420=) rs1390774664 0.00006
NM_001164508.2(NEB):c.25297+15C>T rs10199238 0.00006
NM_001164508.2(NEB):c.25368G>A (p.Thr8456=) rs200083849 0.00006
NM_001164508.2(NEB):c.22131C>G (p.His7377Gln) rs777069125 0.00005
NM_001164508.2(NEB):c.22428C>T (p.Leu7476=) rs371431256 0.00005
NM_001164508.2(NEB):c.23346+13G>A rs564325749 0.00005
NM_001164508.2(NEB):c.23510C>T (p.Thr7837Met) rs370108917 0.00005
NM_001164508.2(NEB):c.23555C>T (p.Ser7852Leu) rs200454939 0.00005
NM_001164508.2(NEB):c.23742+9C>T rs762973833 0.00005
NM_001164508.2(NEB):c.24044G>A (p.Gly8015Glu) rs772083580 0.00005
NM_001164508.2(NEB):c.24820T>C (p.Leu8274=) rs372203426 0.00005
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp) rs186686151 0.00004
NM_001164507.2(NEB):c.21345A>G (p.Lys7115=) rs754506178 0.00004
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001164508.2(NEB):c.21736-16C>T rs746834957 0.00004
NM_001164508.2(NEB):c.21841-19T>C rs763501109 0.00004
NM_001164508.2(NEB):c.21863A>G (p.Glu7288Gly) rs747282707 0.00004
NM_001164508.2(NEB):c.21875G>A (p.Gly7292Asp) rs780278859 0.00004
NM_001164508.2(NEB):c.21892A>T (p.Thr7298Ser) rs531618541 0.00004
NM_001164508.2(NEB):c.21993C>T (p.Ala7331=) rs371611266 0.00004
NM_001164508.2(NEB):c.22183G>A (p.Val7395Ile) rs1396168176 0.00004
NM_001164508.2(NEB):c.22264C>A (p.Gln7422Lys) rs369642754 0.00004
NM_001164508.2(NEB):c.22349C>T (p.Thr7450Ile) rs575499014 0.00004
NM_001164508.2(NEB):c.22500C>T (p.Phe7500=) rs772294501 0.00004
NM_001164508.2(NEB):c.22591-6A>G rs758209784 0.00004
NM_001164508.2(NEB):c.22890G>A (p.Gln7630=) rs765598242 0.00004
NM_001164508.2(NEB):c.23199G>A (p.Pro7733=) rs775027154 0.00004
NM_001164508.2(NEB):c.23346+5G>A rs778663301 0.00004
NM_001164508.2(NEB):c.23347-13A>G rs376065596 0.00004
NM_001164508.2(NEB):c.23382G>A (p.Ser7794=) rs770713773 0.00004
NM_001164508.2(NEB):c.23525G>A (p.Arg7842His) rs369514998 0.00004
NM_001164508.2(NEB):c.23710C>T (p.Arg7904Cys) rs758166991 0.00004
NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn) rs760905651 0.00004
NM_001164508.2(NEB):c.23854T>C (p.Leu7952=) rs763873161 0.00004
NM_001164508.2(NEB):c.23928G>A (p.Ser7976=) rs558657964 0.00004
NM_001164508.2(NEB):c.24240C>T (p.Thr8080=) rs935211033 0.00004
NM_001164508.2(NEB):c.24480T>A (p.Ile8160=) rs746456810 0.00004
NM_001164508.2(NEB):c.24485C>T (p.Ser8162Leu) rs541908352 0.00004
NM_001164508.2(NEB):c.24574A>G (p.Ser8192Gly) rs141240053 0.00004
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His) rs201291446 0.00004
NM_001164508.2(NEB):c.24671C>T (p.Ser8224Leu) rs746031384 0.00004
NM_001164508.2(NEB):c.24765+8C>T rs374935839 0.00004
NM_001164508.2(NEB):c.24842G>A (p.Arg8281Gln) rs770024830 0.00004
NM_001164508.2(NEB):c.25009G>A (p.Val8337Ile) rs377336846 0.00004
NM_001164508.2(NEB):c.25064G>A (p.Arg8355His) rs778972474 0.00004
NM_001164508.2(NEB):c.25073G>A (p.Arg8358His) rs796797375 0.00004
NM_001164508.2(NEB):c.25130G>A (p.Arg8377Gln) rs369174368 0.00004
NM_001164508.2(NEB):c.25239A>G (p.Glu8413=) rs576696191 0.00004
NM_001164508.2(NEB):c.25240G>A (p.Ala8414Thr) rs563173814 0.00004
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter) rs200731870 0.00004
NM_001164508.2(NEB):c.25415G>A (p.Arg8472His) rs368346105 0.00004
NM_001164508.2(NEB):c.25449T>C (p.Asp8483=) rs1425045342 0.00004
NM_001164508.2(NEB):c.21504del (p.Asn7169fs) rs934955715 0.00003
NM_001164508.2(NEB):c.21604C>T (p.Arg7202Cys) rs200826420 0.00003
NM_001164508.2(NEB):c.21779A>G (p.Lys7260Arg) rs200250294 0.00003
NM_001164508.2(NEB):c.22110A>G (p.Pro7370=) rs539800267 0.00003
NM_001164508.2(NEB):c.22162-14C>G rs377752982 0.00003
NM_001164508.2(NEB):c.22429G>A (p.Gly7477Ser) rs764674361 0.00003
NM_001164508.2(NEB):c.22433G>A (p.Arg7478His) rs767207985 0.00003
NM_001164508.2(NEB):c.22479+7del rs750798983 0.00003
NM_001164508.2(NEB):c.22776A>G (p.Lys7592=) rs757671458 0.00003
NM_001164508.2(NEB):c.22800+1G>A rs1302373559 0.00003
NM_001164508.2(NEB):c.23149G>C (p.Glu7717Gln) rs766321668 0.00003
NM_001164508.2(NEB):c.23189A>G (p.Asn7730Ser) rs775756899 0.00003
NM_001164508.2(NEB):c.23416C>G (p.Gln7806Glu) rs750689059 0.00003
NM_001164508.2(NEB):c.23425C>T (p.Arg7809Trp) rs762220487 0.00003
NM_001164508.2(NEB):c.23557-4C>T rs368774294 0.00003
NM_001164508.2(NEB):c.23595C>T (p.Ile7865=) rs370825760 0.00003
NM_001164508.2(NEB):c.23630C>T (p.Thr7877Ile) rs772064998 0.00003
NM_001164508.2(NEB):c.24058A>G (p.Ile8020Val) rs144634228 0.00003
NM_001164508.2(NEB):c.24275A>G (p.Lys8092Arg) rs200761405 0.00003
NM_001164508.2(NEB):c.24299C>T (p.Ser8100Leu) rs759261311 0.00003
NM_001164508.2(NEB):c.24350C>T (p.Pro8117Leu) rs541150975 0.00003
NM_001164508.2(NEB):c.24457G>A (p.Val8153Ile) rs1482662133 0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter) rs754272530 0.00003
NM_001164508.2(NEB):c.24640A>G (p.Arg8214Gly) rs772803200 0.00003
NM_001164508.2(NEB):c.24649C>T (p.Arg8217Cys) rs542275170 0.00003
NM_001164508.2(NEB):c.24707C>T (p.Pro8236Leu) rs571935637 0.00003
NM_001164508.2(NEB):c.24812C>T (p.Ala8271Val) rs749977606 0.00003
NM_001164508.2(NEB):c.24827C>G (p.Thr8276Ser) rs760442721 0.00003
NM_001164508.2(NEB):c.24999G>C (p.Gln8333His) rs774663967 0.00003
NM_001164508.2(NEB):c.25117A>G (p.Asn8373Asp) rs1416760785 0.00003
NM_001164508.2(NEB):c.25162C>T (p.Arg8388Cys) rs371600800 0.00003
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln) rs749034995 0.00003
NM_001164508.2(NEB):c.25184G>A (p.Arg8395Gln) rs779983347 0.00003
NM_001164508.2(NEB):c.25470A>G (p.Gly8490=) rs778502509 0.00003
NM_001164508.2(NEB):c.25555G>A (p.Ala8519Thr) rs775823432 0.00003
NM_001164507.2(NEB):c.21315A>G (p.Lys7105=) rs577494262 0.00002
NM_001164507.2(NEB):c.21346G>A (p.Asp7116Asn) rs372827767 0.00002
NM_001164507.2(NEB):c.21348T>A (p.Asp7116Glu) rs199934793 0.00002
NM_001164508.2(NEB):c.21313-655G>A rs888033278 0.00002
NM_001164508.2(NEB):c.21313-781T>C rs1484679285 0.00002
NM_001164508.2(NEB):c.21313-7T>C rs916066756 0.00002
NM_001164508.2(NEB):c.21393C>T (p.Leu7131=) rs760537153 0.00002
NM_001164508.2(NEB):c.21401C>T (p.Ser7134Leu) rs1199851750 0.00002
NM_001164508.2(NEB):c.21402G>A (p.Ser7134=) rs1042514269 0.00002
NM_001164508.2(NEB):c.21486C>T (p.His7162=) rs146637177 0.00002
NM_001164508.2(NEB):c.21689C>T (p.Ala7230Val) rs368315910 0.00002
NM_001164508.2(NEB):c.21837C>T (p.Ser7279=) rs759583403 0.00002
NM_001164508.2(NEB):c.21862G>C (p.Glu7288Gln) rs768693028 0.00002
NM_001164508.2(NEB):c.21916G>A (p.Ala7306Thr) rs1289511955 0.00002
NM_001164508.2(NEB):c.22041G>A (p.Leu7347=) rs371317825 0.00002
NM_001164508.2(NEB):c.22159G>C (p.Asp7387His) rs770527289 0.00002
NM_001164508.2(NEB):c.22273-8C>A rs1271025149 0.00002
NM_001164508.2(NEB):c.22276G>A (p.Ala7426Thr) rs765921628 0.00002
NM_001164508.2(NEB):c.22414G>A (p.Gly7472Ser) rs376101302 0.00002
NM_001164508.2(NEB):c.22441A>G (p.Ile7481Val) rs374581669 0.00002
NM_001164508.2(NEB):c.22582G>A (p.Ala7528Thr) rs765109120 0.00002
NM_001164508.2(NEB):c.22617A>T (p.Lys7539Asn) rs755199802 0.00002
NM_001164508.2(NEB):c.22671G>C (p.Leu7557=) rs775154161 0.00002
NM_001164508.2(NEB):c.22785A>G (p.Thr7595=) rs764672920 0.00002
NM_001164508.2(NEB):c.22923T>C (p.Asp7641=) rs1288580994 0.00002
NM_001164508.2(NEB):c.22984C>T (p.His7662Tyr) rs373852098 0.00002
NM_001164508.2(NEB):c.23198C>T (p.Pro7733Leu) rs372387518 0.00002
NM_001164508.2(NEB):c.23326G>A (p.Val7776Ile) rs779818222 0.00002
NM_001164508.2(NEB):c.23589G>A (p.Thr7863=) rs762846826 0.00002
NM_001164508.2(NEB):c.23637C>G (p.Asp7879Glu) rs374029795 0.00002
NM_001164508.2(NEB):c.23650-5T>G rs773618223 0.00002
NM_001164508.2(NEB):c.23727G>A (p.Gln7909=) rs757122461 0.00002
NM_001164508.2(NEB):c.23754A>G (p.Lys7918=) rs750445824 0.00002
NM_001164508.2(NEB):c.23835+14T>G rs754114947 0.00002
NM_001164508.2(NEB):c.23928+4T>C rs768465696 0.00002
NM_001164508.2(NEB):c.24021G>A (p.Ser8007=) rs557688789 0.00002
NM_001164508.2(NEB):c.24040G>A (p.Val8014Ile) rs182325166 0.00002
NM_001164508.2(NEB):c.24115-5T>C rs1428535709 0.00002
NM_001164508.2(NEB):c.24137G>A (p.Gly8046Glu) rs766357828 0.00002
NM_001164508.2(NEB):c.24208-10T>C rs1061322 0.00002
NM_001164508.2(NEB):c.24358G>A (p.Glu8120Lys) rs969631939 0.00002
NM_001164508.2(NEB):c.24402C>G (p.Tyr8134Ter) rs758277406 0.00002
NM_001164508.2(NEB):c.24507G>A (p.Val8169=) rs778385532 0.00002
NM_001164508.2(NEB):c.24527C>T (p.Pro8176Leu) rs751680308 0.00002
NM_001164508.2(NEB):c.24549A>G (p.Arg8183=) rs758426581 0.00002
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His) rs759962661 0.00002
NM_001164508.2(NEB):c.24645G>A (p.Val8215=) rs769610035 0.00002
NM_001164508.2(NEB):c.24681C>T (p.Tyr8227=) rs898626861 0.00002
NM_001164508.2(NEB):c.24742C>T (p.Arg8248Cys) rs748561855 0.00002
NM_001164508.2(NEB):c.24967G>A (p.Asp8323Asn) rs764260738 0.00002
NM_001164508.2(NEB):c.24970T>C (p.Phe8324Leu) rs760635015 0.00002
NM_001164508.2(NEB):c.25028G>A (p.Arg8343Gln) rs886054926 0.00002
NM_001164508.2(NEB):c.25171C>T (p.Arg8391Trp) rs561904743 0.00002
NM_001164508.2(NEB):c.25256T>C (p.Leu8419Pro) rs370819880 0.00002
NM_001164508.2(NEB):c.25414C>T (p.Arg8472Cys) rs542706227 0.00002
NM_001164507.2(NEB):c.21319T>C (p.Tyr7107His) rs1200802961 0.00001
NM_001164507.2(NEB):c.21327T>G (p.Ala7109=) rs777930884 0.00001
NM_001164507.2(NEB):c.21339G>A (p.Gln7113=) rs2092597405 0.00001
NM_001164507.2(NEB):c.21359T>C (p.Leu7120Pro) rs762447469 0.00001
NM_001164507.2(NEB):c.21363A>G (p.Val7121=) rs202172327 0.00001
NM_001164507.2(NEB):c.21366C>T (p.Val7122=) rs1159922407 0.00001
NM_001164507.2(NEB):c.21378A>G (p.Arg7126=) rs1294340060 0.00001
NM_001164507.2(NEB):c.21392A>T (p.Lys7131Met) rs530565802 0.00001
NM_001164507.2(NEB):c.21399A>G (p.Ala7133=) rs1403704827 0.00001
NM_001164507.2(NEB):c.21402C>T (p.Gly7134=) rs774372075 0.00001
NM_001164508.2(NEB):c.*36C>T rs773628949 0.00001
NM_001164508.2(NEB):c.*95G>A rs2049714734 0.00001
NM_001164508.2(NEB):c.21313-2A>T rs1212081578 0.00001
NM_001164508.2(NEB):c.21313-788A>G rs146997299 0.00001
NM_001164508.2(NEB):c.21313-8A>G rs1451057843 0.00001
NM_001164508.2(NEB):c.21370C>T (p.Arg7124Cys) rs756984541 0.00001
NM_001164508.2(NEB):c.21462C>G (p.Thr7154=) rs1418109058 0.00001
NM_001164508.2(NEB):c.21466A>G (p.Ile7156Val) rs745586435 0.00001
NM_001164508.2(NEB):c.21480A>G (p.Pro7160=) rs1412224941 0.00001
NM_001164508.2(NEB):c.21497C>T (p.Thr7166Ile) rs766520487 0.00001
NM_001164508.2(NEB):c.21513A>C (p.Gln7171His) rs542149432 0.00001
NM_001164508.2(NEB):c.21535T>C (p.Leu7179=) rs752691224 0.00001
NM_001164508.2(NEB):c.21564C>A (p.Gly7188=) rs775887037 0.00001
NM_001164508.2(NEB):c.21566A>T (p.Tyr7189Phe) rs794727042 0.00001
NM_001164508.2(NEB):c.21590T>C (p.Met7197Thr) rs1229421352 0.00001
NM_001164508.2(NEB):c.21628G>A (p.Asp7210Asn) rs2090426850 0.00001
NM_001164508.2(NEB):c.21630+6T>G rs1401750275 0.00001
NM_001164508.2(NEB):c.21631-8T>C rs1394610862 0.00001
NM_001164508.2(NEB):c.21706G>C (p.Ala7236Pro) rs777945797 0.00001
NM_001164508.2(NEB):c.21714C>T (p.Asp7238=) rs756345641 0.00001
NM_001164508.2(NEB):c.21734A>G (p.Asn7245Ser) rs751872533 0.00001
NM_001164508.2(NEB):c.21735T>C (p.Asn7245=) rs568248647 0.00001
NM_001164508.2(NEB):c.21736-13_21743del rs767772838 0.00001
NM_001164508.2(NEB):c.21756C>T (p.Tyr7252=) rs772151729 0.00001
NM_001164508.2(NEB):c.21761C>A (p.Ala7254Asp) rs778063345 0.00001
NM_001164508.2(NEB):c.21762C>T (p.Ala7254=) rs1165988292 0.00001
NM_001164508.2(NEB):c.21765C>T (p.Asn7255=) rs180903156 0.00001
NM_001164508.2(NEB):c.21771C>T (p.Ala7257=) rs748363300 0.00001
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter) rs750900690 0.00001
NM_001164508.2(NEB):c.21829C>A (p.Gln7277Lys) rs887471790 0.00001
NM_001164508.2(NEB):c.21840T>C (p.Asp7280=) rs770721746 0.00001
NM_001164508.2(NEB):c.21841-18G>A rs201961566 0.00001
NM_001164508.2(NEB):c.21841-6T>A rs767466501 0.00001
NM_001164508.2(NEB):c.21906C>T (p.Asn7302=) rs757845188 0.00001
NM_001164508.2(NEB):c.21909G>A (p.Thr7303=) rs777379650 0.00001
NM_001164508.2(NEB):c.21915C>T (p.Leu7305=) rs373945534 0.00001
NM_001164508.2(NEB):c.21946-9C>T rs746067563 0.00001
NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln) rs756646859 0.00001
NM_001164508.2(NEB):c.21974A>G (p.Glu7325Gly) rs1159938154 0.00001
NM_001164508.2(NEB):c.21976A>C (p.Arg7326=) rs780790042 0.00001
NM_001164508.2(NEB):c.22022C>T (p.Ala7341Val) rs550296441 0.00001
NM_001164508.2(NEB):c.22023G>A (p.Ala7341=) rs533246582 0.00001
NM_001164508.2(NEB):c.22051-3C>A rs1172424440 0.00001
NM_001164508.2(NEB):c.22067A>G (p.His7356Arg) rs1447292730 0.00001
NM_001164508.2(NEB):c.22068T>C (p.His7356=) rs779559380 0.00001
NM_001164508.2(NEB):c.22091G>A (p.Gly7364Asp) rs376684415 0.00001
NM_001164508.2(NEB):c.22104A>T (p.Thr7368=) rs756011050 0.00001
NM_001164508.2(NEB):c.22114A>C (p.Thr7372Pro) rs750642580 0.00001
NM_001164508.2(NEB):c.22117C>T (p.Arg7373Trp) rs779004876 0.00001
NM_001164508.2(NEB):c.22118G>A (p.Arg7373Gln) rs763323693 0.00001
NM_001164508.2(NEB):c.22124C>G (p.Thr7375Ser) rs1195608964 0.00001
NM_001164508.2(NEB):c.22144A>C (p.Thr7382Pro) rs761232641 0.00001
NM_001164508.2(NEB):c.22152T>C (p.His7384=) rs771582884 0.00001
NM_001164508.2(NEB):c.22161+17C>T rs777563421 0.00001
NM_001164508.2(NEB):c.22161+5G>C rs376988538 0.00001
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter) rs748922882 0.00001
NM_001164508.2(NEB):c.22212C>T (p.Ser7404=) rs754896798 0.00001
NM_001164508.2(NEB):c.22219C>T (p.Leu7407=) rs745959432 0.00001
NM_001164508.2(NEB):c.22260G>A (p.Lys7420=) rs756526984 0.00001
NM_001164508.2(NEB):c.22268G>A (p.Ser7423Asn) rs759974940 0.00001
NM_001164508.2(NEB):c.22272+7T>C rs762551492 0.00001
NM_001164508.2(NEB):c.22329A>G (p.Arg7443=) rs1426162103 0.00001
NM_001164508.2(NEB):c.22338C>T (p.Ile7446=) rs2084202001 0.00001
NM_001164508.2(NEB):c.22374+20G>C rs764649803 0.00001
NM_001164508.2(NEB):c.22374+6G>A rs749050869 0.00001
NM_001164508.2(NEB):c.22375-1G>A rs949331605 0.00001
NM_001164508.2(NEB):c.22395C>T (p.His7465=) rs1411071874 0.00001
NM_001164508.2(NEB):c.22396C>T (p.Arg7466Cys) rs768826001 0.00001
NM_001164508.2(NEB):c.22412A>G (p.His7471Arg) rs1553641474 0.00001
NM_001164508.2(NEB):c.22434C>T (p.Arg7478=) rs759555138 0.00001
NM_001164508.2(NEB):c.22439A>C (p.Asp7480Ala) rs886054928 0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001164508.2(NEB):c.22502A>G (p.Asp7501Gly) rs771620082 0.00001
NM_001164508.2(NEB):c.22504A>G (p.Lys7502Glu) rs376495046 0.00001
NM_001164508.2(NEB):c.22537A>G (p.Lys7513Glu) rs570049431 0.00001
NM_001164508.2(NEB):c.22542C>T (p.Asp7514=) rs375181577 0.00001
NM_001164508.2(NEB):c.22591-1G>C rs757157808 0.00001
NM_001164508.2(NEB):c.22623C>T (p.His7541=) rs751787450 0.00001
NM_001164508.2(NEB):c.22629C>T (p.Pro7543=) rs373263895 0.00001
NM_001164508.2(NEB):c.22663C>T (p.His7555Tyr) rs746454129 0.00001
NM_001164508.2(NEB):c.22672A>T (p.Asn7558Tyr) rs771643485 0.00001
NM_001164508.2(NEB):c.22696-10T>C rs1212927796 0.00001
NM_001164508.2(NEB):c.22696-1G>A rs745511810 0.00001
NM_001164508.2(NEB):c.22749C>T (p.Pro7583=) rs1250895200 0.00001
NM_001164508.2(NEB):c.22750G>A (p.Asp7584Asn) rs758761216 0.00001
NM_001164508.2(NEB):c.22774A>C (p.Lys7592Gln) rs903199022 0.00001
NM_001164508.2(NEB):c.22801-10C>T rs1473693561 0.00001
NM_001164508.2(NEB):c.22801-18A>G rs540306408 0.00001
NM_001164508.2(NEB):c.22801-7T>C rs368298970 0.00001
NM_001164508.2(NEB):c.22801-8del rs1182051750 0.00001
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter) rs555582398 0.00001
NM_001164508.2(NEB):c.22850A>G (p.Asp7617Gly) rs776739582 0.00001
NM_001164508.2(NEB):c.22868A>C (p.Tyr7623Ser) rs370518330 0.00001
NM_001164508.2(NEB):c.22905+2T>C rs1553623367 0.00001
NM_001164508.2(NEB):c.22906-6C>T rs1449487575 0.00001
NM_001164508.2(NEB):c.22938T>A (p.Ile7646=) rs967073964 0.00001
NM_001164508.2(NEB):c.22951C>T (p.Leu7651=) rs774527373 0.00001
NM_001164508.2(NEB):c.22970C>T (p.Thr7657Met) rs770889470 0.00001
NM_001164508.2(NEB):c.22971G>A (p.Thr7657=) rs750627350 0.00001
NM_001164508.2(NEB):c.22974A>G (p.Pro7658=) rs1270451426 0.00001
NM_001164508.2(NEB):c.22986T>C (p.His7662=) rs149606244 0.00001
NM_001164508.2(NEB):c.22995T>C (p.Tyr7665=) rs954547329 0.00001
NM_001164508.2(NEB):c.23002A>G (p.Lys7668Glu) rs755548124 0.00001
NM_001164508.2(NEB):c.23016+1G>A rs111833078 0.00001
NM_001164508.2(NEB):c.23016+9C>T rs1387840399 0.00001
NM_001164508.2(NEB):c.23017-11T>A rs887145332 0.00001
NM_001164508.2(NEB):c.23024A>T (p.Tyr7675Phe) rs1284363805 0.00001
NM_001164508.2(NEB):c.23054G>A (p.Gly7685Glu) rs768880396 0.00001
NM_001164508.2(NEB):c.23079T>C (p.Asp7693=) rs745425031 0.00001
NM_001164508.2(NEB):c.23085T>C (p.Pro7695=) rs753516486 0.00001
NM_001164508.2(NEB):c.23127+2T>C rs112610938 0.00001
NM_001164508.2(NEB):c.23128-5T>C rs1349957816 0.00001
NM_001164508.2(NEB):c.23136T>C (p.Tyr7712=) rs1369918746 0.00001
NM_001164508.2(NEB):c.23160C>G (p.Val7720=) rs1271111461 0.00001
NM_001164508.2(NEB):c.23279A>G (p.Asn7760Ser) rs1232744915 0.00001
NM_001164508.2(NEB):c.23307G>A (p.Glu7769=) rs1047502171 0.00001
NM_001164508.2(NEB):c.23340A>G (p.Ser7780=) rs761315020 0.00001
NM_001164508.2(NEB):c.23359G>A (p.Glu7787Lys) rs1476557676 0.00001
NM_001164508.2(NEB):c.23398T>C (p.Leu7800=) rs781419958 0.00001
NM_001164508.2(NEB):c.23439G>A (p.Lys7813=) rs775150466 0.00001
NM_001164508.2(NEB):c.23451+1G>T rs1011425121 0.00001
NM_001164508.2(NEB):c.23551A>T (p.Ser7851Cys) rs371991383 0.00001
NM_001164508.2(NEB):c.23556+9A>C rs1226676144 0.00001
NM_001164508.2(NEB):c.23594T>C (p.Ile7865Thr) rs2068741180 0.00001
NM_001164508.2(NEB):c.23596G>A (p.Gly7866Arg) rs1480807112 0.00001
NM_001164508.2(NEB):c.23649+7A>C rs370599158 0.00001
NM_001164508.2(NEB):c.23649G>A (p.Ser7883=) rs778102984 0.00001
NM_001164508.2(NEB):c.23660A>C (p.Lys7887Thr) rs1166941249 0.00001
NM_001164508.2(NEB):c.23697G>A (p.Leu7899=) rs1559329066 0.00001
NM_001164508.2(NEB):c.23703A>G (p.Glu7901=) rs779612457 0.00001
NM_001164508.2(NEB):c.23724G>A (p.Thr7908=) rs778666699 0.00001
NM_001164508.2(NEB):c.23764G>A (p.Gly7922Arg) rs762094581 0.00001
NM_001164508.2(NEB):c.23765G>C (p.Gly7922Ala) rs1253296856 0.00001
NM_001164508.2(NEB):c.23803A>G (p.Arg7935Gly) rs1318564274 0.00001
NM_001164508.2(NEB):c.23805A>G (p.Arg7935=) rs1481356421 0.00001
NM_001164508.2(NEB):c.23816A>G (p.Asn7939Ser) rs1461067378 0.00001
NM_001164508.2(NEB):c.23835+15A>C rs531906107 0.00001
NM_001164508.2(NEB):c.23836-17T>C rs1353520876 0.00001
NM_001164508.2(NEB):c.23849A>T (p.Glu7950Val) rs746929871 0.00001
NM_001164508.2(NEB):c.23893G>C (p.Glu7965Gln) rs767969927 0.00001
NM_001164508.2(NEB):c.23928+10A>G rs746768491 0.00001
NM_001164508.2(NEB):c.23932T>C (p.Leu7978=) rs781522067 0.00001
NM_001164508.2(NEB):c.23940A>T (p.Lys7980Asn) rs1055476485 0.00001
NM_001164508.2(NEB):c.23947T>C (p.Leu7983=) rs1219012029 0.00001
NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys) rs1202510810 0.00001
NM_001164508.2(NEB):c.23987A>T (p.Glu7996Val) rs1312647029 0.00001
NM_001164508.2(NEB):c.24020C>T (p.Ser8007Leu) rs763365852 0.00001
NM_001164508.2(NEB):c.24021+8G>A rs1361035933 0.00001
NM_001164508.2(NEB):c.24022-1G>C rs1553561697 0.00001
NM_001164508.2(NEB):c.24039C>T (p.Asn8013=) rs554603516 0.00001
NM_001164508.2(NEB):c.24114+8A>C rs979788051 0.00001
NM_001164508.2(NEB):c.24115G>T (p.Val8039Leu) rs1037262755 0.00001
NM_001164508.2(NEB):c.24172C>T (p.Gln8058Ter) rs1323364980 0.00001
NM_001164508.2(NEB):c.24198C>A (p.Asn8066Lys) rs2061715771 0.00001
NM_001164508.2(NEB):c.24207G>A (p.Ser8069=) rs763193315 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.24216C>T (p.Tyr8072=) rs376221776 0.00001
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter) rs1218073575 0.00001
NM_001164508.2(NEB):c.24254C>G (p.Thr8085Ser) rs1297487988 0.00001
NM_001164508.2(NEB):c.24258C>T (p.Pro8086=) rs1400587382 0.00001
NM_001164508.2(NEB):c.24262A>G (p.Met8088Val) rs746180925 0.00001
NM_001164508.2(NEB):c.24293T>C (p.Ile8098Thr) rs372228043 0.00001
NM_001164508.2(NEB):c.24295A>T (p.Ser8099Cys) rs1489581077 0.00001
NM_001164508.2(NEB):c.24300+1G>A rs1366853918 0.00001
NM_001164508.2(NEB):c.24301-7C>T rs755582434 0.00001
NM_001164508.2(NEB):c.24304_24305dup (p.Leu8102fs) rs1559207733 0.00001
NM_001164508.2(NEB):c.24306A>C (p.Leu8102Phe) rs1217235799 0.00001
NM_001164508.2(NEB):c.24345C>T (p.Val8115=) rs922674535 0.00001
NM_001164508.2(NEB):c.24351T>C (p.Pro8117=) rs1178940302 0.00001
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs) rs1257495033 0.00001
NM_001164508.2(NEB):c.24382A>G (p.Asn8128Asp) rs960735572 0.00001
NM_001164508.2(NEB):c.24393+19A>G rs999752806 0.00001
NM_001164508.2(NEB):c.24393+1G>A rs775631800 0.00001
NM_001164508.2(NEB):c.24393G>A (p.Ser8131=) rs527744844 0.00001
NM_001164508.2(NEB):c.24394-5C>G rs780723893 0.00001
NM_001164508.2(NEB):c.24394-6G>A rs1160511236 0.00001
NM_001164508.2(NEB):c.24394-7C>T rs747680930 0.00001
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs) rs762133567 0.00001
NM_001164508.2(NEB):c.24402C>T (p.Tyr8134=) rs758277406 0.00001
NM_001164508.2(NEB):c.24413T>C (p.Met8138Thr) rs1320244420 0.00001
NM_001164508.2(NEB):c.24449T>C (p.Met8150Thr) rs774559645 0.00001
NM_001164508.2(NEB):c.24486+8G>A rs756949795 0.00001
NM_001164508.2(NEB):c.24486G>A (p.Ser8162=) rs1230102324 0.00001
NM_001164508.2(NEB):c.24487-13T>C rs2058626028 0.00001
NM_001164508.2(NEB):c.24493T>C (p.Tyr8165His) rs775139388 0.00001
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu) rs398124169 0.00001
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs) rs555445835 0.00001
NM_001164508.2(NEB):c.24528T>C (p.Pro8176=) rs780085645 0.00001
NM_001164508.2(NEB):c.24580-8T>C rs1040110151 0.00001
NM_001164508.2(NEB):c.24673-9C>T rs765830534 0.00001
NM_001164508.2(NEB):c.24696A>G (p.Arg8232=) rs1353296146 0.00001
NM_001164508.2(NEB):c.24708G>A (p.Pro8236=) rs768683537 0.00001
NM_001164508.2(NEB):c.24729G>A (p.Met8243Ile) rs2058043130 0.00001
NM_001164508.2(NEB):c.24738T>C (p.Ala8246=) rs1057524338 0.00001
NM_001164508.2(NEB):c.24743G>A (p.Arg8248His) rs781388562 0.00001
NM_001164508.2(NEB):c.24765+10A>G rs761427890 0.00001
NM_001164508.2(NEB):c.24765+13A>G rs1357923263 0.00001
NM_001164508.2(NEB):c.24771T>G (p.Leu8257=) rs1298212749 0.00001
NM_001164508.2(NEB):c.24828C>A (p.Thr8276=) rs1231234319 0.00001
NM_001164508.2(NEB):c.24831C>T (p.Pro8277=) rs1170681985 0.00001
NM_001164508.2(NEB):c.24862C>T (p.His8288Tyr) rs1174473779 0.00001
NM_001164508.2(NEB):c.24873+7C>T rs372378614 0.00001
NM_001164508.2(NEB):c.24918A>C (p.Thr8306=) rs751387280 0.00001
NM_001164508.2(NEB):c.24933T>C (p.Asp8311=) rs1346509416 0.00001
NM_001164508.2(NEB):c.24946C>T (p.Arg8316Ter) rs758327681 0.00001
NM_001164508.2(NEB):c.25057+7G>A rs928603766 0.00001
NM_001164508.2(NEB):c.25063C>T (p.Arg8355Cys) rs745632829 0.00001
NM_001164508.2(NEB):c.25065T>C (p.Arg8355=) rs1290219667 0.00001
NM_001164508.2(NEB):c.25072C>T (p.Arg8358Cys) rs757107530 0.00001
NM_001164508.2(NEB):c.25089G>A (p.Ser8363=) rs766453942 0.00001
NM_001164508.2(NEB):c.25107A>G (p.Pro8369=) rs763433145 0.00001
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs) rs1472403020 0.00001
NM_001164508.2(NEB):c.25150+3G>A rs556224656 0.00001
NM_001164508.2(NEB):c.25167G>C (p.Arg8389=) rs2055496981 0.00001
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter) rs747179265 0.00001
NM_001164508.2(NEB):c.25194T>C (p.Ser8398=) rs1295808591 0.00001
NM_001164508.2(NEB):c.25219G>A (p.Glu8407Lys) rs766943894 0.00001
NM_001164508.2(NEB):c.25221G>A (p.Glu8407=) rs759047810 0.00001
NM_001164508.2(NEB):c.25259C>T (p.Ser8420Leu) rs949111967 0.00001
NM_001164508.2(NEB):c.25266C>A (p.Tyr8422Ter) rs1433028646 0.00001
NM_001164508.2(NEB):c.25278T>A (p.Gly8426=) rs779322634 0.00001
NM_001164508.2(NEB):c.25297+16G>A rs1258470846 0.00001
NM_001164508.2(NEB):c.25298-12_25298-10del rs1296705502 0.00001
NM_001164508.2(NEB):c.25330C>T (p.Gln8444Ter) rs778104284 0.00001
NM_001164508.2(NEB):c.25332A>G (p.Gln8444=) rs748525509 0.00001
NM_001164508.2(NEB):c.25404+1_25404+2insATGGA rs1357452519 0.00001
NM_001164508.2(NEB):c.25405-3T>G rs1222497271 0.00001
NM_001164508.2(NEB):c.25429_25430insG (p.Tyr8477Ter) rs1242654062 0.00001
NM_001164508.2(NEB):c.25431T>C (p.Tyr8477=) rs1407162161 0.00001
NM_001164508.2(NEB):c.25433T>C (p.Met8478Thr) rs141449286 0.00001
NM_001164508.2(NEB):c.25445C>G (p.Ala8482Gly) rs774603877 0.00001
NM_001164508.2(NEB):c.25521T>C (p.Thr8507=) rs1415304405 0.00001
NM_001164508.2(NEB):c.25524G>A (p.Val8508=) rs1574250751 0.00001
NM_001164508.2(NEB):c.25543G>A (p.Gly8515Arg) rs776932788 0.00001
NM_001164508.2(NEB):c.25563C>T (p.Tyr8521=) rs746382045 0.00001
NC_000002.12:g.(?_151496266)_(151497728_?)del
NC_000002.12:g.(?_151496921)_(151497053_?)del
NC_000002.12:g.(?_151496921)_(151497738_?)del
NM_001164507.2(NEB):c.21316A>G (p.Lys7106Glu) rs2092606329
NM_001164507.2(NEB):c.21321C>G (p.Tyr7107Ter) rs1553679273
NM_001164507.2(NEB):c.21327T>C (p.Ala7109=)
NM_001164507.2(NEB):c.21348T>C (p.Asp7116=)
NM_001164507.2(NEB):c.21348T>G (p.Asp7116Glu) rs199934793
NM_001164507.2(NEB):c.21352T>C (p.Tyr7118His)
NM_001164507.2(NEB):c.21354C>T (p.Tyr7118=)
NM_001164507.2(NEB):c.21358del (p.Leu7120fs) rs1553678967
NM_001164507.2(NEB):c.21372G>A (p.Glu7124=) rs2153521425
NM_001164507.2(NEB):c.21375T>C (p.Pro7125=) rs2153521407
NM_001164507.2(NEB):c.21375del (p.Arg7126fs)
NM_001164507.2(NEB):c.21381T>C (p.His7127=)
NM_001164507.2(NEB):c.21382C>T (p.Leu7128=) rs2153521308
NM_001164507.2(NEB):c.21384G>C (p.Leu7128=)
NM_001164507.2(NEB):c.21393G>A (p.Lys7131=)
NM_001164507.2(NEB):c.21396C>A (p.Thr7132=) rs759637718
NM_001164507.2(NEB):c.21396C>G (p.Thr7132=) rs759637718
NM_001164507.2(NEB):c.21397G>A (p.Ala7133Thr)
NM_001164507.2(NEB):c.21397G>T (p.Ala7133Ser) rs988993094
NM_001164507.2(NEB):c.21403G>A (p.Asp7135Asn)
NM_001164507.2(NEB):c.21406C>T (p.Gln7136Ter) rs2153521056
NM_001164507.2(NEB):c.21408G>A (p.Gln7136=)
NM_001164508.2(NEB):c.*316C>T rs2049611427
NM_001164508.2(NEB):c.21313-10G>A rs1423055409
NM_001164508.2(NEB):c.21313-19C>T
NM_001164508.2(NEB):c.21313-1G>C rs2153515796
NM_001164508.2(NEB):c.21313-5G>C rs2153515816
NM_001164508.2(NEB):c.21313-649C>A
NM_001164508.2(NEB):c.21313-649C>T
NM_001164508.2(NEB):c.21313-651G>A
NM_001164508.2(NEB):c.21313-656G>A
NM_001164508.2(NEB):c.21313-658G>A
NM_001164508.2(NEB):c.21313-659T>C
NM_001164508.2(NEB):c.21313-777G>A rs2153522125
NM_001164508.2(NEB):c.21313-777G>C
NM_001164508.2(NEB):c.21313-783G>A
NM_001164508.2(NEB):c.21313-792T>C
NM_001164508.2(NEB):c.21313-793A>T
NM_001164508.2(NEB):c.21313-9C>T rs1576549807
NM_001164508.2(NEB):c.21317A>G (p.Lys7106Arg)
NM_001164508.2(NEB):c.21318del (p.Lys7106fs) rs2092318339
NM_001164508.2(NEB):c.21320A>G (p.Tyr7107Cys)
NM_001164508.2(NEB):c.21323A>T (p.Lys7108Ile)
NM_001164508.2(NEB):c.21329G>A (p.Ser7110Asn)
NM_001164508.2(NEB):c.21332C>G (p.Ala7111Gly) rs1279646895
NM_001164508.2(NEB):c.21344T>C (p.Leu7115Pro) rs1003798007
NM_001164508.2(NEB):c.21348A>T (p.Gln7116His)
NM_001164508.2(NEB):c.21349C>A (p.His7117Asn)
NM_001164508.2(NEB):c.21351T>C (p.His7117=) rs2092309757
NM_001164508.2(NEB):c.21352G>C (p.Gly7118Arg)
NM_001164508.2(NEB):c.21356G>A (p.Cys7119Tyr)
NM_001164508.2(NEB):c.21358A>C (p.Asn7120His)
NM_001164508.2(NEB):c.21392T>C (p.Leu7131Pro) rs2092301005
NM_001164508.2(NEB):c.21403C>T (p.His7135Tyr)
NM_001164508.2(NEB):c.21405dup (p.Met7136fs) rs2153515167
NM_001164508.2(NEB):c.21411G>C (p.Trp7137Cys) rs1343837039
NM_001164508.2(NEB):c.21417+14G>C
NM_001164508.2(NEB):c.21417+17T>A
NM_001164508.2(NEB):c.21417+18del
NM_001164508.2(NEB):c.21417+1G>A rs2153515061
NM_001164508.2(NEB):c.21417+3A>T
NM_001164508.2(NEB):c.21417+8C>T
NM_001164508.2(NEB):c.21418-10C>T rs201634621
NM_001164508.2(NEB):c.21418-15T>C
NM_001164508.2(NEB):c.21418-1G>A rs2153501801
NM_001164508.2(NEB):c.21418-6del rs56026241
NM_001164508.2(NEB):c.21418-8C>T
NM_001164508.2(NEB):c.21418-9A>G rs1553669362
NM_001164508.2(NEB):c.21420C>G (p.Ile7140Met)
NM_001164508.2(NEB):c.21424T>C (p.Tyr7142His)
NM_001164508.2(NEB):c.21426C>A (p.Tyr7142Ter) rs2091275452
NM_001164508.2(NEB):c.21426C>T (p.Tyr7142=) rs2091275452
NM_001164508.2(NEB):c.21431A>G (p.Lys7144Arg)
NM_001164508.2(NEB):c.21435C>A (p.Asn7145Lys)
NM_001164508.2(NEB):c.21439G>A (p.Glu7147Lys)
NM_001164508.2(NEB):c.21444A>G (p.Lys7148=)
NM_001164508.2(NEB):c.21447A>C (p.Ser7149=) rs2153501636
NM_001164508.2(NEB):c.21454A>G (p.Lys7152Glu) rs2153501624
NM_001164508.2(NEB):c.21457T>G (p.Phe7153Val) rs2153501601
NM_001164508.2(NEB):c.21462C>T (p.Thr7154=)
NM_001164508.2(NEB):c.21465A>G (p.Ser7155=) rs2153501542
NM_001164508.2(NEB):c.21469G>T (p.Val7157Leu) rs1576490497
NM_001164508.2(NEB):c.21484C>T (p.His7162Tyr)
NM_001164508.2(NEB):c.21490C>A (p.Arg7164Ser) rs771050596
NM_001164508.2(NEB):c.21490C>T (p.Arg7164Cys)
NM_001164508.2(NEB):c.21491G>C (p.Arg7164Pro) rs16830171
NM_001164508.2(NEB):c.21492T>A (p.Arg7164=) rs2153501339
NM_001164508.2(NEB):c.21492T>C (p.Arg7164=)
NM_001164508.2(NEB):c.21500_21501del (p.Lys7167fs)
NM_001164508.2(NEB):c.21504C>A (p.Val7168=)
NM_001164508.2(NEB):c.21510A>G (p.Lys7170=) rs1216670824
NM_001164508.2(NEB):c.21516C>A (p.Ile7172=) rs1576489349
NM_001164508.2(NEB):c.21516C>T (p.Ile7172=) rs1576489349
NM_001164508.2(NEB):c.21519C>A (p.Ser7173Arg)
NM_001164508.2(NEB):c.21520G>A (p.Asp7174Asn) rs1227689355
NM_001164508.2(NEB):c.21522+16A>G
NM_001164508.2(NEB):c.21522+7G>C
NM_001164508.2(NEB):c.21523-11dup
NM_001164508.2(NEB):c.21523-12T>C
NM_001164508.2(NEB):c.21523-17G>A
NM_001164508.2(NEB):c.21523-17G>T
NM_001164508.2(NEB):c.21523-19C>G
NM_001164508.2(NEB):c.21523-1G>T
NM_001164508.2(NEB):c.21523-6T>C rs2153489992
NM_001164508.2(NEB):c.21523-9A>G
NM_001164508.2(NEB):c.21525C>A (p.Ile7175=) rs369183371
NM_001164508.2(NEB):c.21529T>C (p.Tyr7177His)
NM_001164508.2(NEB):c.21531T>C (p.Tyr7177=) rs2090456365
NM_001164508.2(NEB):c.21534A>G (p.Lys7178=)
NM_001164508.2(NEB):c.21541T>C (p.Tyr7181His)
NM_001164508.2(NEB):c.21543CAA[1] (p.Asn7182del) rs758160111
NM_001164508.2(NEB):c.21546C>A (p.Asn7182Lys) rs149510427
NM_001164508.2(NEB):c.21546C>T (p.Asn7182=) rs149510427
NM_001164508.2(NEB):c.21558C>T (p.Pro7186=)
NM_001164508.2(NEB):c.21560G>C (p.Arg7187Thr)
NM_001164508.2(NEB):c.21563G>A (p.Gly7188Asp)
NM_001164508.2(NEB):c.21563G>T (p.Gly7188Val)
NM_001164508.2(NEB):c.21570C>G (p.Thr7190=) rs2153489667
NM_001164508.2(NEB):c.21572C>G (p.Thr7191Arg)
NM_001164508.2(NEB):c.21580G>A (p.Asp7194Asn)
NM_001164508.2(NEB):c.21582C>T (p.Asp7194=) rs527760406
NM_001164508.2(NEB):c.21584_21585inv (p.Thr7195Met)
NM_001164508.2(NEB):c.21588C>T (p.Pro7196=) rs2090436424
NM_001164508.2(NEB):c.21597G>A (p.Leu7199=)
NM_001164508.2(NEB):c.21599A>G (p.His7200Arg)
NM_001164508.2(NEB):c.21600T>C (p.His7200=) rs2090434299
NM_001164508.2(NEB):c.21605G>A (p.Arg7202His)
NM_001164508.2(NEB):c.21606C>T (p.Arg7202=) rs2153489433
NM_001164508.2(NEB):c.21609G>A (p.Lys7203=)
NM_001164508.2(NEB):c.21609G>C (p.Lys7203Asn) rs2090430591
NM_001164508.2(NEB):c.21624_21625insTTATACTTGACACCATG (p.Ser7209delinsLeuTyrLeuThrProTer)
NM_001164508.2(NEB):c.21628_21630+2del rs2153489310
NM_001164508.2(NEB):c.21630+10A>G rs2153489207
NM_001164508.2(NEB):c.21630+1G>A rs1446706909
NM_001164508.2(NEB):c.21630+7A>G rs1576455408
NM_001164508.2(NEB):c.21631-14G>A
NM_001164508.2(NEB):c.21631-14_21631-13del rs778841804
NM_001164508.2(NEB):c.21631-16_21631-15insA
NM_001164508.2(NEB):c.21631-17del
NM_001164508.2(NEB):c.21631-7C>G
NM_001164508.2(NEB):c.21631-7C>T rs374513817
NM_001164508.2(NEB):c.21634A>T (p.Lys7212Ter)
NM_001164508.2(NEB):c.21641AAG[1] (p.Glu7215del)
NM_001164508.2(NEB):c.21646G>A (p.Val7216Ile) rs2153475893
NM_001164508.2(NEB):c.21649T>C (p.Tyr7217His)
NM_001164508.2(NEB):c.21666C>G (p.Ser7222=)
NM_001164508.2(NEB):c.21668A>C (p.Asn7223Thr)
NM_001164508.2(NEB):c.21675C>G (p.Thr7225=)
NM_001164508.2(NEB):c.21677T>C (p.Ile7226Thr)
NM_001164508.2(NEB):c.21702A>G (p.Lys7234=)
NM_001164508.2(NEB):c.21708C>T (p.Ala7236=)
NM_001164508.2(NEB):c.21711_21712dup (p.Asp7238fs) rs1559580467
NM_001164508.2(NEB):c.21712G>A (p.Asp7238Asn)
NM_001164508.2(NEB):c.21717C>A (p.Ala7239=)
NM_001164508.2(NEB):c.21732C>G (p.Thr7244=)
NM_001164508.2(NEB):c.21732C>T (p.Thr7244=)
NM_001164508.2(NEB):c.21735+1G>C rs2153475495
NM_001164508.2(NEB):c.21735+7_21735+10dup
NM_001164508.2(NEB):c.21736-12T>G
NM_001164508.2(NEB):c.21736-19TC[2] rs752810060
NM_001164508.2(NEB):c.21736-19TC[4]
NM_001164508.2(NEB):c.21736-1G>T
NM_001164508.2(NEB):c.21736-2A>G rs1389892619
NM_001164508.2(NEB):c.21736-7A>T rs1576338070
NM_001164508.2(NEB):c.21736-9T>A
NM_001164508.2(NEB):c.21739G>C (p.Asp7247His)
NM_001164508.2(NEB):c.21741C>T (p.Asp7247=) rs1462775059
NM_001164508.2(NEB):c.21743A>G (p.Tyr7248Cys) rs2153463102
NM_001164508.2(NEB):c.21744T>A (p.Tyr7248Ter)
NM_001164508.2(NEB):c.21744T>C (p.Tyr7248=)
NM_001164508.2(NEB):c.21751C>T (p.Gln7251Ter) rs373946758
NM_001164508.2(NEB):c.21773A>G (p.His7258Arg)
NM_001164508.2(NEB):c.21780G>A (p.Lys7260=)
NM_001164508.2(NEB):c.21789T>C (p.Pro7263=)
NM_001164508.2(NEB):c.21792C>A (p.Asp7264Glu)
NM_001164508.2(NEB):c.21792C>T (p.Asp7264=) rs758971689
NM_001164508.2(NEB):c.21793del (p.Arg7265fs)
NM_001164508.2(NEB):c.21794G>A (p.Arg7265Gln)
NM_001164508.2(NEB):c.21795A>T (p.Arg7265=) rs2153462890
NM_001164508.2(NEB):c.21796_21810del (p.Pro7266_Gln7270del)
NM_001164508.2(NEB):c.21798G>A (p.Pro7266=) rs375581714
NM_001164508.2(NEB):c.21801C>T (p.Asp7267=)
NM_001164508.2(NEB):c.21816C>T (p.Ala7272=)
NM_001164508.2(NEB):c.21817A>T (p.Lys7273Ter)
NM_001164508.2(NEB):c.21824C>G (p.Ser7275Cys)
NM_001164508.2(NEB):c.21826C>A (p.Leu7276Met)
NM_001164508.2(NEB):c.21831G>A (p.Gln7277=)
NM_001164508.2(NEB):c.21840+10G>T rs1198385109
NM_001164508.2(NEB):c.21840+14G>C
NM_001164508.2(NEB):c.21840+16C>T rs768934807
NM_001164508.2(NEB):c.21840+17A>G
NM_001164508.2(NEB):c.21840+7C>T
NM_001164508.2(NEB):c.21841-10T>G
NM_001164508.2(NEB):c.21841-15T>C
NM_001164508.2(NEB):c.21841-16C>T
NM_001164508.2(NEB):c.21841-20C>T rs1280656368
NM_001164508.2(NEB):c.21841-5C>A rs1447082461
NM_001164508.2(NEB):c.21841-5C>T rs1447082461
NM_001164508.2(NEB):c.21841-7A>G rs1576315905
NM_001164508.2(NEB):c.21843T>C (p.Phe7281=) rs2086545410
NM_001164508.2(NEB):c.21852G>A (p.Lys7284=) rs2153458955
NM_001164508.2(NEB):c.21855G>A (p.Leu7285=)
NM_001164508.2(NEB):c.21859C>G (p.Arg7287Gly) rs376072545
NM_001164508.2(NEB):c.21859C>T (p.Arg7287Trp)
NM_001164508.2(NEB):c.21860G>A (p.Arg7287Gln)
NM_001164508.2(NEB):c.21862G>A (p.Glu7288Lys) rs768693028
NM_001164508.2(NEB):c.21868C>T (p.Leu7290Phe)
NM_001164508.2(NEB):c.21870C>A (p.Leu7290=)
NM_001164508.2(NEB):c.21873G>A (p.Lys7291=) rs2153458824
NM_001164508.2(NEB):c.21874G>C (p.Gly7292Arg)
NM_001164508.2(NEB):c.21879C>T (p.Cys7293=)
NM_001164508.2(NEB):c.21885_21888del (p.Val7297fs)
NM_001164508.2(NEB):c.21887_21888del (p.Ser7296fs)
NM_001164508.2(NEB):c.21891C>A (p.Val7297=) rs2153458732
NM_001164508.2(NEB):c.21908C>G (p.Thr7303Arg) rs374819736
NM_001164508.2(NEB):c.21908C>T (p.Thr7303Met)
NM_001164508.2(NEB):c.21909G>C (p.Thr7303=)
NM_001164508.2(NEB):c.21910G>A (p.Val7304Met)
NM_001164508.2(NEB):c.21919C>A (p.Leu7307Ile)
NM_001164508.2(NEB):c.21921C>A (p.Leu7307=)
NM_001164508.2(NEB):c.21921C>G (p.Leu7307=)
NM_001164508.2(NEB):c.21933A>G (p.Leu7311=) rs2153458591
NM_001164508.2(NEB):c.21933_21934insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGAATACTTTA (p.Ile7312delinsPhePhePhePhePhePheXaaXaaXaaXaaValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
NM_001164508.2(NEB):c.21939A>G (p.Glu7313=) rs2153458580
NM_001164508.2(NEB):c.21942T>C (p.Ser7314=)
NM_001164508.2(NEB):c.21945+11A>G
NM_001164508.2(NEB):c.21945+13T>C rs1553649614
NM_001164508.2(NEB):c.21945+16C>G
NM_001164508.2(NEB):c.21945+1G>A
NM_001164508.2(NEB):c.21945+1G>C rs2153458564
NM_001164508.2(NEB):c.21945+8C>A
NM_001164508.2(NEB):c.21945+8C>T rs2153458512
NM_001164508.2(NEB):c.21945+9C>T
NM_001164508.2(NEB):c.21945T>C (p.Asp7315=)
NM_001164508.2(NEB):c.21946-14T>C
NM_001164508.2(NEB):c.21946-18C>T
NM_001164508.2(NEB):c.21946-19C>T rs1442285194
NM_001164508.2(NEB):c.21946-20C>T
NM_001164508.2(NEB):c.21946-2del rs1553647715
NM_001164508.2(NEB):c.21946-5del
NM_001164508.2(NEB):c.21946-6C>G rs2085770082
NM_001164508.2(NEB):c.21946-7C>T rs2153453870
NM_001164508.2(NEB):c.21948G>C (p.Leu7316=)
NM_001164508.2(NEB):c.21956A>C (p.Lys7319Thr)
NM_001164508.2(NEB):c.21956A>G (p.Lys7319Arg)
NM_001164508.2(NEB):c.21960dup (p.Lys7321fs)
NM_001164508.2(NEB):c.21966T>C (p.His7322=)
NM_001164508.2(NEB):c.21969C>T (p.Val7323=) rs554809115
NM_001164508.2(NEB):c.21972G>A (p.Lys7324=) rs267598918
NM_001164508.2(NEB):c.21973G>A (p.Glu7325Lys) rs747662624
NM_001164508.2(NEB):c.21980G>C (p.Gly7327Ala) rs751167749
NM_001164508.2(NEB):c.21981A>G (p.Gly7327=) rs2153453611
NM_001164508.2(NEB):c.21982A>G (p.Thr7328Ala)
NM_001164508.2(NEB):c.21983C>A (p.Thr7328Asn)
NM_001164508.2(NEB):c.21988C>G (p.His7330Asp)
NM_001164508.2(NEB):c.21996A>G (p.Val7332=)
NM_001164508.2(NEB):c.22005G>T (p.Thr7335=)
NM_001164508.2(NEB):c.22007C>T (p.Pro7336Leu) rs1559547106
NM_001164508.2(NEB):c.22008T>A (p.Pro7336=)
NM_001164508.2(NEB):c.22011G>A (p.Gln7337=) rs774410460
NM_001164508.2(NEB):c.22014C>T (p.Ile7338=)
NM_001164508.2(NEB):c.22016del (p.Leu7339fs) rs2153453450
NM_001164508.2(NEB):c.22020G>A (p.Leu7340=) rs2153453430
NM_001164508.2(NEB):c.22025A>G (p.Lys7342Arg)
NM_001164508.2(NEB):c.22026G>A (p.Lys7342=)
NM_001164508.2(NEB):c.22026G>C (p.Lys7342Asn)
NM_001164508.2(NEB):c.22030_22031del (p.Val7344fs)
NM_001164508.2(NEB):c.22034G>C (p.Ser7345Thr)
NM_001164508.2(NEB):c.22039C>T (p.Leu7347=) rs2085711900
NM_001164508.2(NEB):c.22042G>A (p.Val7348Met) rs200918570
NM_001164508.2(NEB):c.22044_22045del (p.Val7348_Ser7349insTer) rs2153453236
NM_001164508.2(NEB):c.22047T>C (p.Ser7349=) rs2153453220
NM_001164508.2(NEB):c.22048G>T (p.Glu7350Ter)
NM_001164508.2(NEB):c.22050+10A>C
NM_001164508.2(NEB):c.22050+12C>T
NM_001164508.2(NEB):c.22050+16C>T
NM_001164508.2(NEB):c.22050+18A>G
NM_001164508.2(NEB):c.22050+20G>A rs758004610
NM_001164508.2(NEB):c.22050+9C>G
NM_001164508.2(NEB):c.22051-14A>G
NM_001164508.2(NEB):c.22051-20C>G
NM_001164508.2(NEB):c.22051-4C>T rs2153452529
NM_001164508.2(NEB):c.22051-6C>T
NM_001164508.2(NEB):c.22051-7C>T
NM_001164508.2(NEB):c.22071C>G (p.Val7357=)
NM_001164508.2(NEB):c.22083G>A (p.Leu7361=)
NM_001164508.2(NEB):c.22087C>T (p.Gln7363Ter) rs1553646540
NM_001164508.2(NEB):c.22089G>A (p.Gln7363=)
NM_001164508.2(NEB):c.22090G>C (p.Gly7364Arg) rs2085588572
NM_001164508.2(NEB):c.22092C>G (p.Gly7364=)
NM_001164508.2(NEB):c.22095A>G (p.Ser7365=)
NM_001164508.2(NEB):c.22096T>C (p.Tyr7366His)
NM_001164508.2(NEB):c.22098C>T (p.Tyr7366=)
NM_001164508.2(NEB):c.22099ACA[1] (p.Thr7368del) rs1553646403
NM_001164508.2(NEB):c.22107A>G (p.Leu7369=)
NM_001164508.2(NEB):c.22109C>G (p.Pro7370Arg)
NM_001164508.2(NEB):c.22114A>T (p.Thr7372Ser) rs750642580
NM_001164508.2(NEB):c.22116C>G (p.Thr7372=)
NM_001164508.2(NEB):c.22119G>A (p.Arg7373=) rs2153452193
NM_001164508.2(NEB):c.22122C>T (p.Asp7374=)
NM_001164508.2(NEB):c.22124C>T (p.Thr7375Ile) rs1195608964
NM_001164508.2(NEB):c.22131C>T (p.His7377=)
NM_001164508.2(NEB):c.22132G>A (p.Val7378Ile) rs764524918
NM_001164508.2(NEB):c.22134C>T (p.Val7378=)
NM_001164508.2(NEB):c.22138del (p.Glu7380fs) rs1235589246
NM_001164508.2(NEB):c.22142_22143del (p.Val7381fs)
NM_001164508.2(NEB):c.22143G>A (p.Val7381=)
NM_001164508.2(NEB):c.22148A>C (p.Lys7383Thr)
NM_001164508.2(NEB):c.22153G>T (p.Val7385Phe)
NM_001164508.2(NEB):c.22153del (p.Val7385fs)
NM_001164508.2(NEB):c.22155C>A (p.Val7385=) rs2085548955
NM_001164508.2(NEB):c.22155C>T (p.Val7385=)
NM_001164508.2(NEB):c.22161+16C>T
NM_001164508.2(NEB):c.22161+17_22161+18delinsTC rs2153451799
NM_001164508.2(NEB):c.22161+18G>A
NM_001164508.2(NEB):c.22161+18G>C rs6721666
NM_001164508.2(NEB):c.22161+18G>T
NM_001164508.2(NEB):c.22161+18_22161+19insC
NM_001164508.2(NEB):c.22161+1G>A rs112933443
NM_001164508.2(NEB):c.22161+7G>A rs1019461241
NM_001164508.2(NEB):c.22161+7G>C
NM_001164508.2(NEB):c.22161+8A>G rs2153451874
NM_001164508.2(NEB):c.22162-14C>T
NM_001164508.2(NEB):c.22162-19T>C
NM_001164508.2(NEB):c.22162-5_22162-2del rs1553644243
NM_001164508.2(NEB):c.22162-6A>G rs2153447957
NM_001164508.2(NEB):c.22173A>T (p.Lys7391Asn) rs2085025144
NM_001164508.2(NEB):c.22175del (p.Lys7392fs) rs2153447885
NM_001164508.2(NEB):c.22179G>A (p.Lys7393=) rs1296105706
NM_001164508.2(NEB):c.22181T>C (p.Phe7394Ser) rs2153447855
NM_001164508.2(NEB):c.22194A>G (p.Lys7398=) rs1232660353
NM_001164508.2(NEB):c.22197A>G (p.Gly7399=) rs748084943
NM_001164508.2(NEB):c.22203C>G (p.Ser7401=) rs2085013624
NM_001164508.2(NEB):c.22206C>T (p.Asn7402=)
NM_001164508.2(NEB):c.22213A>G (p.Ile7405Val) rs2153447751
NM_001164508.2(NEB):c.22220del (p.Leu7407fs)
NM_001164508.2(NEB):c.22221G>T (p.Leu7407=)
NM_001164508.2(NEB):c.22224G>A (p.Glu7408=)
NM_001164508.2(NEB):c.22228C>T (p.Pro7410Ser)
NM_001164508.2(NEB):c.22229del (p.Pro7410fs)
NM_001164508.2(NEB):c.22231G>A (p.Glu7411Lys)
NM_001164508.2(NEB):c.22233G>A (p.Glu7411=)
NM_001164508.2(NEB):c.22233G>C (p.Glu7411Asp) rs1576243073
NM_001164508.2(NEB):c.22241A>G (p.His7414Arg) rs757621514
NM_001164508.2(NEB):c.22242T>C (p.His7414=)
NM_001164508.2(NEB):c.22249G>C (p.Glu7417Gln)
NM_001164508.2(NEB):c.22252G>A (p.Val7418Met)
NM_001164508.2(NEB):c.22254G>A (p.Val7418=) rs1576242281
NM_001164508.2(NEB):c.22256_22257delinsG (p.Ala7419fs) rs1559534672
NM_001164508.2(NEB):c.22257C>A (p.Ala7419=)
NM_001164508.2(NEB):c.22261A>G (p.Lys7421Glu)
NM_001164508.2(NEB):c.22262A>G (p.Lys7421Arg)
NM_001164508.2(NEB):c.22264C>G (p.Gln7422Glu) rs369642754
NM_001164508.2(NEB):c.22269T>C (p.Ser7423=) rs2153447396
NM_001164508.2(NEB):c.22272+10C>T
NM_001164508.2(NEB):c.22272+17A>G
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+9del rs2153447269
NM_001164508.2(NEB):c.22273-17T>C
NM_001164508.2(NEB):c.22273-1G>A rs1553642332
NM_001164508.2(NEB):c.22273-20C>T
NM_001164508.2(NEB):c.22273-36CT[5] rs751597547
NM_001164508.2(NEB):c.22273-4A>G rs2153439900
NM_001164508.2(NEB):c.22273-5T>C rs886054929
NM_001164508.2(NEB):c.22273-6_22273-2dup rs758609054
NM_001164508.2(NEB):c.22273-7A>G rs755544084
NM_001164508.2(NEB):c.22273-7A>T rs755544084
NM_001164508.2(NEB):c.22273G>T (p.Val7425Phe) rs752028559
NM_001164508.2(NEB):c.22275C>T (p.Val7425=) rs2153439817
NM_001164508.2(NEB):c.22276del (p.Ala7426fs)
NM_001164508.2(NEB):c.22284A>G (p.Arg7428=) rs2153439721
NM_001164508.2(NEB):c.22287_22292delinsCGAT (p.Lys7429fs)
NM_001164508.2(NEB):c.22290T>C (p.Asp7430=) rs2153439690
NM_001164508.2(NEB):c.22294_22295insCAGATTTA (p.Lys7432fs)
NM_001164508.2(NEB):c.22299G>A (p.Glu7433=)
NM_001164508.2(NEB):c.22301A>C (p.Asn7434Thr)
NM_001164508.2(NEB):c.22302C>T (p.Asn7434=) rs188004000
NM_001164508.2(NEB):c.22305G>A (p.Leu7435=)
NM_001164508.2(NEB):c.22305G>C (p.Leu7435=) rs1377472820
NM_001164508.2(NEB):c.22311C>T (p.Tyr7437=) rs760746706
NM_001164508.2(NEB):c.22312_22315dup (p.Thr7439fs) rs2084217268
NM_001164508.2(NEB):c.22313C>T (p.Thr7438Ile) rs2153439522
NM_001164508.2(NEB):c.22315dup (p.Thr7439fs)
NM_001164508.2(NEB):c.22323T>C (p.Ala7441=)
NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter) rs1576203853
NM_001164508.2(NEB):c.22328G>A (p.Arg7443Gln)
NM_001164508.2(NEB):c.22328G>C (p.Arg7443Pro) rs2084210932
NM_001164508.2(NEB):c.22330C>G (p.Pro7444Ala)
NM_001164508.2(NEB):c.22332A>G (p.Pro7444=) rs2153439382
NM_001164508.2(NEB):c.22333_22339del (p.Asp7445fs)
NM_001164508.2(NEB):c.22335C>T (p.Asp7445=) rs2153439353
NM_001164508.2(NEB):c.22339AAG[1] (p.Lys7448del) rs1553641943
NM_001164508.2(NEB):c.22342A>G (p.Lys7448Glu)
NM_001164508.2(NEB):c.22345G>T (p.Ala7449Ser)
NM_001164508.2(NEB):c.22347C>G (p.Ala7449=)
NM_001164508.2(NEB):c.22347C>T (p.Ala7449=) rs2153439256
NM_001164508.2(NEB):c.22351C>G (p.Gln7451Glu) rs2084197089
NM_001164508.2(NEB):c.22351C>T (p.Gln7451Ter)
NM_001164508.2(NEB):c.22353_22354insCA (p.Ala7452fs)
NM_001164508.2(NEB):c.22356A>G (p.Ala7452=)
NM_001164508.2(NEB):c.22365G>A (p.Gln7455=)
NM_001164508.2(NEB):c.22367C>T (p.Ala7456Val) rs2153439115
NM_001164508.2(NEB):c.22372G>A (p.Glu7458Lys) rs2084187419
NM_001164508.2(NEB):c.22374+13_22374+33dup rs1553641788
NM_001164508.2(NEB):c.22374+17A>C
NM_001164508.2(NEB):c.22374+19T>C
NM_001164508.2(NEB):c.22374+7G>A rs750007608
NM_001164508.2(NEB):c.22374+7G>C
NM_001164508.2(NEB):c.22374+9del
NM_001164508.2(NEB):c.22375-12T>C
NM_001164508.2(NEB):c.22375-16G>T
NM_001164508.2(NEB):c.22375-1G>C
NM_001164508.2(NEB):c.22375-2A>G rs2153437998
NM_001164508.2(NEB):c.22375-5T>A
NM_001164508.2(NEB):c.22375-7G>C rs2153438059
NM_001164508.2(NEB):c.22375-8T>G
NM_001164508.2(NEB):c.22375-9C>G
NM_001164508.2(NEB):c.22389C>T (p.Ala7463=)
NM_001164508.2(NEB):c.22392G>A (p.Lys7464=)
NM_001164508.2(NEB):c.22397G>A (p.Arg7466His)
NM_001164508.2(NEB):c.22398C>G (p.Arg7466=) rs1435249313
NM_001164508.2(NEB):c.22401G>A (p.Lys7467=) rs2153437849
NM_001164508.2(NEB):c.22403A>C (p.Glu7468Ala)
NM_001164508.2(NEB):c.22411C>T (p.His7471Tyr)
NM_001164508.2(NEB):c.22417T>C (p.Leu7473=)
NM_001164508.2(NEB):c.22418dup (p.Leu7473fs) rs2084059565
NM_001164508.2(NEB):c.22424T>C (p.Met7475Thr)
NM_001164508.2(NEB):c.22431T>A (p.Gly7477=)
NM_001164508.2(NEB):c.22431T>C (p.Gly7477=)
NM_001164508.2(NEB):c.22440C>T (p.Asp7480=) rs2153437562
NM_001164508.2(NEB):c.22447A>T (p.Met7483Leu)
NM_001164508.2(NEB):c.22452C>A (p.Ala7484=) rs766289411
NM_001164508.2(NEB):c.22456_22457delinsGC (p.Lys7486Ala)
NM_001164508.2(NEB):c.22458G>A (p.Lys7486=)
NM_001164508.2(NEB):c.22464C>G (p.Ala7488=) rs2153437476
NM_001164508.2(NEB):c.22466A>G (p.Lys7489Arg) rs2084038575
NM_001164508.2(NEB):c.22468C>T (p.Leu7490=)
NM_001164508.2(NEB):c.22470G>A (p.Leu7490=) rs1345567872
NM_001164508.2(NEB):c.22476C>T (p.Ser7492=)
NM_001164508.2(NEB):c.22477C>T (p.Gln7493Ter)
NM_001164508.2(NEB):c.22479+10A>T rs2153437271
NM_001164508.2(NEB):c.22479+11T>A
NM_001164508.2(NEB):c.22479+11dup
NM_001164508.2(NEB):c.22479+16G>A
NM_001164508.2(NEB):c.22479+16G>C
NM_001164508.2(NEB):c.22479+16G>T
NM_001164508.2(NEB):c.22479+16dup
NM_001164508.2(NEB):c.22479+19C>T
NM_001164508.2(NEB):c.22479+1G>C rs1057515575
NM_001164508.2(NEB):c.22479+1del rs1488066635
NM_001164508.2(NEB):c.22479+4A>C
NM_001164508.2(NEB):c.22480-11T>C
NM_001164508.2(NEB):c.22480-12A>G
NM_001164508.2(NEB):c.22480-16T>C
NM_001164508.2(NEB):c.22480-19T>C
NM_001164508.2(NEB):c.22480-1G>C
NM_001164508.2(NEB):c.22480-20A>T
NM_001164508.2(NEB):c.22480-5G>T rs753985158
NM_001164508.2(NEB):c.22483A>T (p.Lys7495Ter)
NM_001164508.2(NEB):c.22485A>G (p.Lys7495=)
NM_001164508.2(NEB):c.22489C>A (p.Arg7497=)
NM_001164508.2(NEB):c.22490G>A (p.Arg7497Gln)
NM_001164508.2(NEB):c.22500C>A (p.Phe7500Leu)
NM_001164508.2(NEB):c.22500_22501del (p.Phe7500fs)
NM_001164508.2(NEB):c.22501G>T (p.Asp7501Tyr)
NM_001164508.2(NEB):c.22509A>G (p.Glu7503=) rs1382948788
NM_001164508.2(NEB):c.22511del (p.Lys7504fs) rs2080623161
NM_001164508.2(NEB):c.22512G>A (p.Lys7504=)
NM_001164508.2(NEB):c.22513G>A (p.Gly7505Ser)
NM_001164508.2(NEB):c.22520C>T (p.Thr7507Ile)
NM_001164508.2(NEB):c.22523C>T (p.Pro7508Leu) rs780741468
NM_001164508.2(NEB):c.22531A>G (p.Asn7511Asp) rs2153396290
NM_001164508.2(NEB):c.22532A>C (p.Asn7511Thr)
NM_001164508.2(NEB):c.22535C>G (p.Pro7512Arg) rs376609115
NM_001164508.2(NEB):c.22536A>G (p.Pro7512=) rs2153396215
NM_001164508.2(NEB):c.22548G>A (p.Gln7516=) rs200776925
NM_001164508.2(NEB):c.22554C>T (p.Tyr7518=)
NM_001164508.2(NEB):c.22555A>G (p.Lys7519Glu) rs2080605863
NM_001164508.2(NEB):c.22560C>T (p.Val7520=)
NM_001164508.2(NEB):c.22567G>C (p.Asp7523His) rs2153395893
NM_001164508.2(NEB):c.22575T>C (p.Asn7525=)
NM_001164508.2(NEB):c.22590+5G>A
NM_001164508.2(NEB):c.22590+7T>A rs2153395506
NM_001164508.2(NEB):c.22591-10T>C rs2153386698
NM_001164508.2(NEB):c.22591-11A>G
NM_001164508.2(NEB):c.22591-12C>T
NM_001164508.2(NEB):c.22591-12dup
NM_001164508.2(NEB):c.22591-14C>T
NM_001164508.2(NEB):c.22591-15C>T
NM_001164508.2(NEB):c.22591-17del
NM_001164508.2(NEB):c.22591-18T>C
NM_001164508.2(NEB):c.22591-3C>G
NM_001164508.2(NEB):c.22591-3C>T rs778824203
NM_001164508.2(NEB):c.22591-9A>G
NM_001164508.2(NEB):c.22595A>G (p.Lys7532Arg)
NM_001164508.2(NEB):c.22597_22601del (p.Tyr7533fs)
NM_001164508.2(NEB):c.22599C>T (p.Tyr7533=) rs1279113627
NM_001164508.2(NEB):c.22609C>T (p.Leu7537=)
NM_001164508.2(NEB):c.22611G>A (p.Leu7537=) rs2153386407
NM_001164508.2(NEB):c.22613A>T (p.Lys7538Met)
NM_001164508.2(NEB):c.22619T>C (p.Leu7540Pro)
NM_001164508.2(NEB):c.22622delinsTT (p.His7541fs)
NM_001164508.2(NEB):c.22629C>G (p.Pro7543=)
NM_001164508.2(NEB):c.22638C>T (p.Asp7546=) rs372279388
NM_001164508.2(NEB):c.22639A>G (p.Met7547Val)
NM_001164508.2(NEB):c.22641del (p.Met7547fs) rs1057515573
NM_001164508.2(NEB):c.22642_22644del (p.Lys7548del) rs1553629857
NM_001164508.2(NEB):c.22645G>T (p.Glu7549Ter) rs2080077889
NM_001164508.2(NEB):c.22651C>T (p.Leu7551=)
NM_001164508.2(NEB):c.22651_22652del (p.Leu7551fs) rs2153386052
NM_001164508.2(NEB):c.22652del (p.Leu7551fs)
NM_001164508.2(NEB):c.22653G>A (p.Leu7551=)
NM_001164508.2(NEB):c.22665T>C (p.His7555=) rs1002497843
NM_001164508.2(NEB):c.22676C>T (p.Thr7559Ile) rs2080067943
NM_001164508.2(NEB):c.22677A>C (p.Thr7559=) rs778662915
NM_001164508.2(NEB):c.22677A>G (p.Thr7559=)
NM_001164508.2(NEB):c.22677A>T (p.Thr7559=) rs778662915
NM_001164508.2(NEB):c.22683A>G (p.Gln7561=) rs2153385875
NM_001164508.2(NEB):c.22690A>G (p.Ser7564Gly) rs749222946
NM_001164508.2(NEB):c.22695+11T>C
NM_001164508.2(NEB):c.22695+13A>G
NM_001164508.2(NEB):c.22695+14T>C
NM_001164508.2(NEB):c.22695+18C>T
NM_001164508.2(NEB):c.22695+9A>C rs2153385709
NM_001164508.2(NEB):c.22695+9A>G
NM_001164508.2(NEB):c.22696-11C>G
NM_001164508.2(NEB):c.22696-11C>T
NM_001164508.2(NEB):c.22696-12C>T
NM_001164508.2(NEB):c.22696-13G>A
NM_001164508.2(NEB):c.22696-14C>T
NM_001164508.2(NEB):c.22696-17T>C
NM_001164508.2(NEB):c.22696-19T>G
NM_001164508.2(NEB):c.22696-2A>C
NM_001164508.2(NEB):c.22698C>T (p.Tyr7566=) rs1454465802
NM_001164508.2(NEB):c.22705AAG[2] (p.Lys7571del) rs760161843
NM_001164508.2(NEB):c.22708A>T (p.Lys7570Ter)
NM_001164508.2(NEB):c.22711A>T (p.Lys7571Ter)
NM_001164508.2(NEB):c.22728dup (p.Gly7577fs)
NM_001164508.2(NEB):c.22732C>G (p.His7578Asp)
NM_001164508.2(NEB):c.22740C>T (p.His7580=) rs769553483
NM_001164508.2(NEB):c.22747C>T (p.Pro7583Ser) rs2153380639
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg) rs1575897069
NM_001164508.2(NEB):c.22752T>C (p.Asp7584=) rs2153380546
NM_001164508.2(NEB):c.22754A>C (p.Asn7585Thr)
NM_001164508.2(NEB):c.22761G>A (p.Glu7587=) rs2153380494
NM_001164508.2(NEB):c.22770C>T (p.His7590=)
NM_001164508.2(NEB):c.22771C>A (p.Leu7591Ile)
NM_001164508.2(NEB):c.22776dup (p.Glu7593fs) rs2079459982
NM_001164508.2(NEB):c.22779G>A (p.Glu7593=)
NM_001164508.2(NEB):c.22788A>G (p.Glu7596=)
NM_001164508.2(NEB):c.22789T>C (p.Leu7597=) rs1303098129
NM_001164508.2(NEB):c.22792C>T (p.Gln7598Ter) rs752267876
NM_001164508.2(NEB):c.22792_22793del (p.Gln7598fs)
NM_001164508.2(NEB):c.22797T>C (p.Ser7599=) rs2153380225
NM_001164508.2(NEB):c.22800+14G>A rs2153380065
NM_001164508.2(NEB):c.22800+16C>T
NM_001164508.2(NEB):c.22800+17C>T
NM_001164508.2(NEB):c.22800+18G>A
NM_001164508.2(NEB):c.22800+18G>T
NM_001164508.2(NEB):c.22800+2T>G rs1553627466
NM_001164508.2(NEB):c.22800+8G>A
NM_001164508.2(NEB):c.22801-19C>T
NM_001164508.2(NEB):c.22801-9T>C rs2153355531
NM_001164508.2(NEB):c.22804A>T (p.Lys7602Ter)
NM_001164508.2(NEB):c.22812A>G (p.Lys7604=) rs2153355196
NM_001164508.2(NEB):c.22812del (p.Glu7605fs) rs2153355216
NM_001164508.2(NEB):c.22813G>A (p.Glu7605Lys)
NM_001164508.2(NEB):c.22813G>T (p.Glu7605Ter) rs767967099
NM_001164508.2(NEB):c.22814_22818del (p.Glu7605fs)
NM_001164508.2(NEB):c.22815A>G (p.Glu7605=) rs1156733550
NM_001164508.2(NEB):c.22824A>G (p.Glu7608=)
NM_001164508.2(NEB):c.22833A>G (p.Arg7611=)
NM_001164508.2(NEB):c.22841C>T (p.Pro7614Leu) rs1182955893
NM_001164508.2(NEB):c.22844T>C (p.Met7615Thr)
NM_001164508.2(NEB):c.22846C>T (p.Leu7616=)
NM_001164508.2(NEB):c.22848G>A (p.Leu7616=)
NM_001164508.2(NEB):c.22860A>T (p.Thr7620=)
NM_001164508.2(NEB):c.22863A>G (p.Pro7621=)
NM_001164508.2(NEB):c.22865C>T (p.Thr7622Met)
NM_001164508.2(NEB):c.22866G>A (p.Thr7622=)
NM_001164508.2(NEB):c.22872C>T (p.Ile7624=) rs1396527518
NM_001164508.2(NEB):c.22900A>G (p.Ser7634Gly)
NM_001164508.2(NEB):c.22905+13_22905+14dup
NM_001164508.2(NEB):c.22905+14dup rs565867868
NM_001164508.2(NEB):c.22905+18C>T
NM_001164508.2(NEB):c.22905+19A>G
NM_001164508.2(NEB):c.22905+1del rs771740564
NM_001164508.2(NEB):c.22905+20C>T
NM_001164508.2(NEB):c.22905+2dup rs1553623381
NM_001164508.2(NEB):c.22905+7C>A rs1426040506
NM_001164508.2(NEB):c.22905+7C>T rs1426040506
NM_001164508.2(NEB):c.22905+8A>T
NM_001164508.2(NEB):c.22906-18C>T
NM_001164508.2(NEB):c.22906-19T>G
NM_001164508.2(NEB):c.22906-4T>A rs2153321999
NM_001164508.2(NEB):c.22906-6_22906-2del rs1014710501
NM_001164508.2(NEB):c.22910A>T (p.Glu7637Val)
NM_001164508.2(NEB):c.22912T>C (p.Tyr7638His)
NM_001164508.2(NEB):c.22914T>A (p.Tyr7638Ter)
NM_001164508.2(NEB):c.22914T>C (p.Tyr7638=) rs1035343199
NM_001164508.2(NEB):c.22926T>C (p.Tyr7642=)
NM_001164508.2(NEB):c.22931del (p.Glu7644fs)
NM_001164508.2(NEB):c.22939A>T (p.Lys7647Ter)
NM_001164508.2(NEB):c.22940A>G (p.Lys7647Arg)
NM_001164508.2(NEB):c.22950C>G (p.Asn7650Lys) rs2153320948
NM_001164508.2(NEB):c.22956T>C (p.Thr7652=) rs1367326036
NM_001164508.2(NEB):c.22966del (p.Val7656fs) rs2153320686
NM_001164508.2(NEB):c.22968C>G (p.Val7656=)
NM_001164508.2(NEB):c.22968C>T (p.Val7656=)
NM_001164508.2(NEB):c.22972C>T (p.Pro7658Ser)
NM_001164508.2(NEB):c.22980G>A (p.Leu7660=) rs773457010
NM_001164508.2(NEB):c.22985A>G (p.His7662Arg)
NM_001164508.2(NEB):c.22991A>C (p.Lys7664Thr)
NM_001164508.2(NEB):c.23005A>C (p.Ile7669Leu)
NM_001164508.2(NEB):c.23006T>C (p.Ile7669Thr)
NM_001164508.2(NEB):c.23010A>T (p.Ala7670=) rs2076734268
NM_001164508.2(NEB):c.23014G>A (p.Glu7672Lys)
NM_001164508.2(NEB):c.23016+17C>A
NM_001164508.2(NEB):c.23016+20_23016+21del rs996064152
NM_001164508.2(NEB):c.23016+3A>G rs1194138148
NM_001164508.2(NEB):c.23016+4G>A
NM_001164508.2(NEB):c.23016+7C>G rs2153319397
NM_001164508.2(NEB):c.23017-10C>T rs1575745888
NM_001164508.2(NEB):c.23017-3_23017del
NM_001164508.2(NEB):c.23017-4A>G rs2153307515
NM_001164508.2(NEB):c.23017-5T>C
NM_001164508.2(NEB):c.23017-6A>T
NM_001164508.2(NEB):c.23017-7G>A rs2076447388
NM_001164508.2(NEB):c.23020G>C (p.Glu7674Gln)
NM_001164508.2(NEB):c.23028G>C (p.Arg7676Ser)
NM_001164508.2(NEB):c.23031A>G (p.Lys7677=) rs968522988
NM_001164508.2(NEB):c.23034T>A (p.Asp7678Glu)
NM_001164508.2(NEB):c.23034T>C (p.Asp7678=)
NM_001164508.2(NEB):c.23034T>G (p.Asp7678Glu)
NM_001164508.2(NEB):c.23049C>A (p.Ile7683=) rs1205912884
NM_001164508.2(NEB):c.23050C>T (p.Arg7684Cys) rs762019205
NM_001164508.2(NEB):c.23060G>A (p.Gly7687Asp)
NM_001164508.2(NEB):c.23060del (p.Gly7687fs)
NM_001164508.2(NEB):c.23064C>A (p.Leu7688=)
NM_001164508.2(NEB):c.23069_23072del (p.Glu7690fs)
NM_001164508.2(NEB):c.23081C>T (p.Thr7694Ile)
NM_001164508.2(NEB):c.23082A>C (p.Thr7694=) rs2153304822
NM_001164508.2(NEB):c.23083C>T (p.Pro7695Ser)
NM_001164508.2(NEB):c.23088C>T (p.Asp7696=) rs2153304583
NM_001164508.2(NEB):c.23094A>G (p.Leu7698=) rs2076410485
NM_001164508.2(NEB):c.23100A>G (p.Ala7700=) rs2076409232
NM_001164508.2(NEB):c.23102A>G (p.Lys7701Arg)
NM_001164508.2(NEB):c.23103G>A (p.Lys7701=)
NM_001164508.2(NEB):c.23105A>G (p.Asn7702Ser)
NM_001164508.2(NEB):c.23109C>T (p.Ala7703=) rs1575743148
NM_001164508.2(NEB):c.23112T>C (p.Thr7704=) rs2153304031
NM_001164508.2(NEB):c.23127+10C>T rs2153303571
NM_001164508.2(NEB):c.23127+13C>A
NM_001164508.2(NEB):c.23127+15G>A
NM_001164508.2(NEB):c.23127+1G>A
NM_001164508.2(NEB):c.23127+20C>T
NM_001164508.2(NEB):c.23127+2T>A
NM_001164508.2(NEB):c.23127+8C>T
NM_001164508.2(NEB):c.23128-16T>C
NM_001164508.2(NEB):c.23128-18del rs1553616477
NM_001164508.2(NEB):c.23128-19del
NM_001164508.2(NEB):c.23128-19dup rs369229042
NM_001164508.2(NEB):c.23128-1G>T
NM_001164508.2(NEB):c.23128-20_23128-19dup
NM_001164508.2(NEB):c.23128-4A>G
NM_001164508.2(NEB):c.23128-6C>T rs2153276594
NM_001164508.2(NEB):c.23128-8T>G
NM_001164508.2(NEB):c.23133A>G (p.Glu7711=) rs2153276564
NM_001164508.2(NEB):c.23134_23144del (p.Tyr7712fs) rs2153276539
NM_001164508.2(NEB):c.23135A>G (p.Tyr7712Cys)
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter) rs1575714905
NM_001164508.2(NEB):c.23145C>T (p.Asp7715=) rs1267175445
NM_001164508.2(NEB):c.23146C>A (p.Leu7716Met)
NM_001164508.2(NEB):c.23146C>T (p.Leu7716=) rs376977065
NM_001164508.2(NEB):c.23148G>A (p.Leu7716=) rs2076016686
NM_001164508.2(NEB):c.23152C>T (p.Leu7718=) rs2153276514
NM_001164508.2(NEB):c.23161_23164del (p.Lys7721fs)
NM_001164508.2(NEB):c.23162A>C (p.Lys7721Thr)
NM_001164508.2(NEB):c.23162_23165delinsCAGATGTGTAT (p.Lys7721fs)
NM_001164508.2(NEB):c.23163A>G (p.Lys7721=)
NM_001164508.2(NEB):c.23166A>C (p.Gly7722=) rs1575713868
NM_001164508.2(NEB):c.23168G>A (p.Arg7723Lys) rs947053462
NM_001164508.2(NEB):c.23172C>A (p.Gly7724=)
NM_001164508.2(NEB):c.23172C>G (p.Gly7724=)
NM_001164508.2(NEB):c.23173C>G (p.Leu7725Val)
NM_001164508.2(NEB):c.23173C>T (p.Leu7725=) rs753855949
NM_001164508.2(NEB):c.23174_23187del (p.Leu7725fs)
NM_001164508.2(NEB):c.23175dup (p.Asn7726fs)
NM_001164508.2(NEB):c.23182A>G (p.Met7728Val)
NM_001164508.2(NEB):c.23186C>T (p.Ala7729Val) rs1284612506
NM_001164508.2(NEB):c.23186delinsGAATCA (p.Ala7729fs)
NM_001164508.2(NEB):c.23190T>C (p.Asn7730=)
NM_001164508.2(NEB):c.23193A>G (p.Glu7731=) rs1349733418
NM_001164508.2(NEB):c.23197_23205del (p.Pro7733_Phe7735del)
NM_001164508.2(NEB):c.23210G>C (p.Arg7737Thr)
NM_001164508.2(NEB):c.23217G>A (p.Arg7739=) rs2153276418
NM_001164508.2(NEB):c.23225C>G (p.Thr7742Ser)
NM_001164508.2(NEB):c.23230A>G (p.Ile7744Val) rs2075994673
NM_001164508.2(NEB):c.23233G>T (p.Ala7745Ser) rs1179461829
NM_001164508.2(NEB):c.23235C>G (p.Ala7745=)
NM_001164508.2(NEB):c.23241+14T>C
NM_001164508.2(NEB):c.23241+17G>A
NM_001164508.2(NEB):c.23241+18A>G
NM_001164508.2(NEB):c.23241+2T>A rs1553615846
NM_001164508.2(NEB):c.23241+8C>T rs2153276366
NM_001164508.2(NEB):c.23242-10T>C rs2153274389
NM_001164508.2(NEB):c.23242-14G>A
NM_001164508.2(NEB):c.23242-15G>C
NM_001164508.2(NEB):c.23242-16C>T
NM_001164508.2(NEB):c.23242-2A>G
NM_001164508.2(NEB):c.23242-3C>G rs2075506324
NM_001164508.2(NEB):c.23242-9G>A
NM_001164508.2(NEB):c.23242-9G>T rs1328112461
NM_001164508.2(NEB):c.23242A>G (p.Ile7748Val) rs767590150
NM_001164508.2(NEB):c.23247G>A (p.Lys7749=) rs2153274047
NM_001164508.2(NEB):c.23250T>C (p.Tyr7750=) rs1559411124
NM_001164508.2(NEB):c.23253G>A (p.Lys7751=) rs1575685245
NM_001164508.2(NEB):c.23259A>G (p.Ser7753=) rs2153273927
NM_001164508.2(NEB):c.23271G>A (p.Glu7757=)
NM_001164508.2(NEB):c.23283del (p.Phe7761fs)
NM_001164508.2(NEB):c.23288C>T (p.Ser7763Phe)
NM_001164508.2(NEB):c.23301T>C (p.Thr7767=) rs2153273534
NM_001164508.2(NEB):c.23304A>C (p.Pro7768=)
NM_001164508.2(NEB):c.23310C>T (p.Ile7770=) rs2153273450
NM_001164508.2(NEB):c.23314C>T (p.His7772Tyr) rs2075487458
NM_001164508.2(NEB):c.23315A>G (p.His7772Arg) rs776379234
NM_001164508.2(NEB):c.23316T>A (p.His7772Gln)
NM_001164508.2(NEB):c.23320C>T (p.Gln7774Ter)
NM_001164508.2(NEB):c.23320CAA[1] (p.Gln7775del) rs1553614214
NM_001164508.2(NEB):c.23322A>G (p.Gln7774=) rs746862475
NM_001164508.2(NEB):c.23328C>G (p.Val7776=) rs930436261
NM_001164508.2(NEB):c.23338T>A (p.Ser7780Thr) rs1553614160
NM_001164508.2(NEB):c.23341A>G (p.Ser7781Gly) rs745794892
NM_001164508.2(NEB):c.23341A>T (p.Ser7781Cys)
NM_001164508.2(NEB):c.23344C>T (p.Gln7782Ter) rs2153272667
NM_001164508.2(NEB):c.23346+10T>C rs2153272094
NM_001164508.2(NEB):c.23346+12C>T
NM_001164508.2(NEB):c.23346+12dup
NM_001164508.2(NEB):c.23346+1G>A
NM_001164508.2(NEB):c.23346+2T>G
NM_001164508.2(NEB):c.23346+2dup rs2153272570
NM_001164508.2(NEB):c.23346+8C>T
NM_001164508.2(NEB):c.23346+9A>T rs2153272170
NM_001164508.2(NEB):c.23347-12dup
NM_001164508.2(NEB):c.23347-2A>G
NM_001164508.2(NEB):c.23347-6T>A
NM_001164508.2(NEB):c.23350A>G (p.Lys7784Glu) rs2070773602
NM_001164508.2(NEB):c.23351dup (p.Tyr7785fs) rs1559360386
NM_001164508.2(NEB):c.23352G>A (p.Lys7784=)
NM_001164508.2(NEB):c.23355C>T (p.Tyr7785=) rs1575514028
NM_001164508.2(NEB):c.23363A>G (p.Asp7788Gly)
NM_001164508.2(NEB):c.23367T>C (p.Ala7789=) rs775312412
NM_001164508.2(NEB):c.23378_23380del (p.Met7793_Ser7794delinsThr) rs1553603652
NM_001164508.2(NEB):c.23378del (p.Met7793fs) rs1553603690
NM_001164508.2(NEB):c.23382G>C (p.Ser7794=)
NM_001164508.2(NEB):c.23382G>T (p.Ser7794=) rs770713773
NM_001164508.2(NEB):c.23385T>C (p.Tyr7795=)
NM_001164508.2(NEB):c.23385T>G (p.Tyr7795Ter) rs2153218155
NM_001164508.2(NEB):c.23387del (p.Tyr7796fs)
NM_001164508.2(NEB):c.23388T>C (p.Tyr7796=)
NM_001164508.2(NEB):c.23395_23398dup (p.Leu7800fs) rs1057515574
NM_001164508.2(NEB):c.23405C>A (p.Thr7802Asn) rs780379101
NM_001164508.2(NEB):c.23405C>T (p.Thr7802Ile) rs780379101
NM_001164508.2(NEB):c.23410G>A (p.Glu7804Lys)
NM_001164508.2(NEB):c.23415dup (p.Gln7806fs) rs1553603438
NM_001164508.2(NEB):c.23418G>A (p.Gln7806=)
NM_001164508.2(NEB):c.23421_23422del (p.Arg7807fs) rs1553603400
NM_001164508.2(NEB):c.23424C>A (p.Val7808=) rs2153217819
NM_001164508.2(NEB):c.23426G>A (p.Arg7809Gln)
NM_001164508.2(NEB):c.23430G>A (p.Glu7810=)
NM_001164508.2(NEB):c.23433C>A (p.Asn7811Lys)
NM_001164508.2(NEB):c.23433C>T (p.Asn7811=) rs760128419
NM_001164508.2(NEB):c.23436A>G (p.Gln7812=)
NM_001164508.2(NEB):c.23445C>T (p.Phe7815=)
NM_001164508.2(NEB):c.23449dup (p.Leu7817fs)
NM_001164508.2(NEB):c.23451+10del rs1338093963
NM_001164508.2(NEB):c.23451+12T>C
NM_001164508.2(NEB):c.23451+18G>A
NM_001164508.2(NEB):c.23451+1G>A
NM_001164508.2(NEB):c.23451+1G>C rs1011425121
NM_001164508.2(NEB):c.23452-11T>A
NM_001164508.2(NEB):c.23452-12C>A
NM_001164508.2(NEB):c.23452-12C>T
NM_001164508.2(NEB):c.23452-13T>G
NM_001164508.2(NEB):c.23452-13TCTT[3]
NM_001164508.2(NEB):c.23452-17T>C
NM_001164508.2(NEB):c.23452-1G>C
NM_001164508.2(NEB):c.23452-20T>A
NM_001164508.2(NEB):c.23452-20T>C
NM_001164508.2(NEB):c.23455C>T (p.Gln7819Ter)
NM_001164508.2(NEB):c.23457dup (p.Tyr7820fs)
NM_001164508.2(NEB):c.23461C>T (p.Gln7821Ter)
NM_001164508.2(NEB):c.23470C>A (p.Leu7824Ile)
NM_001164508.2(NEB):c.23476_23479dup (p.Ser7827fs)
NM_001164508.2(NEB):c.23480G>A (p.Ser7827Asn)
NM_001164508.2(NEB):c.23482A>G (p.Lys7828Glu)
NM_001164508.2(NEB):c.23494dup (p.Thr7832fs)
NM_001164508.2(NEB):c.23495_23496del (p.Thr7832fs)
NM_001164508.2(NEB):c.23496_23499del (p.Val7833fs) rs762780413
NM_001164508.2(NEB):c.23497GTT[1] (p.Val7834del) rs1553601408
NM_001164508.2(NEB):c.23498_23499insA (p.Val7834fs)
NM_001164508.2(NEB):c.23500G>T (p.Val7834Phe) rs1553601424
NM_001164508.2(NEB):c.23500_23501del (p.Val7834fs)
NM_001164508.2(NEB):c.23502_23503del (p.Gln7835fs)
NM_001164508.2(NEB):c.23505del (p.Asp7836fs) rs2153196376
NM_001164508.2(NEB):c.23508C>T (p.Asp7836=) rs2153196327
NM_001164508.2(NEB):c.23514A>G (p.Pro7838=) rs1575473569
NM_001164508.2(NEB):c.23517A>G (p.Glu7839=)
NM_001164508.2(NEB):c.23521C>T (p.Leu7841=) rs759103372
NM_001164508.2(NEB):c.23524C>A (p.Arg7842Ser) rs184516994
NM_001164508.2(NEB):c.23529A>G (p.Val7843=)
NM_001164508.2(NEB):c.23539C>T (p.Gln7847Ter)
NM_001164508.2(NEB):c.23551del (p.Ser7851fs)
NM_001164508.2(NEB):c.23556+12A>G
NM_001164508.2(NEB):c.23556+13T>C
NM_001164508.2(NEB):c.23556+15T>C
NM_001164508.2(NEB):c.23556+16_23556+19del
NM_001164508.2(NEB):c.23556+18T>A
NM_001164508.2(NEB):c.23556+19_23556+20insTATAGTATATTTACTAGG
NM_001164508.2(NEB):c.23556+1G>T rs2153195911
NM_001164508.2(NEB):c.23556+2T>A
NM_001164508.2(NEB):c.23556G>A (p.Ser7852=)
NM_001164508.2(NEB):c.23557-12C>T
NM_001164508.2(NEB):c.23557-15A>G
NM_001164508.2(NEB):c.23557-16G>A
NM_001164508.2(NEB):c.23557-16_23557-13dup
NM_001164508.2(NEB):c.23557-4C>A
NM_001164508.2(NEB):c.23557-5C>T
NM_001164508.2(NEB):c.23557-6G>A
NM_001164508.2(NEB):c.23565T>C (p.Tyr7855=) rs752269554
NM_001164508.2(NEB):c.23576T>A (p.Val7859Asp)
NM_001164508.2(NEB):c.23577C>T (p.Val7859=)
NM_001164508.2(NEB):c.23588C>T (p.Thr7863Met)
NM_001164508.2(NEB):c.23592T>C (p.Ala7864=)
NM_001164508.2(NEB):c.23595C>A (p.Ile7865=) rs370825760
NM_001164508.2(NEB):c.23607T>C (p.Pro7869=)
NM_001164508.2(NEB):c.23609A>T (p.Glu7870Val) rs1454960791
NM_001164508.2(NEB):c.23622G>A (p.Val7874=) rs2153187102
NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter) rs537560378
NM_001164508.2(NEB):c.23628_23631del (p.Gln7876fs) rs1161478770
NM_001164508.2(NEB):c.23637C>T (p.Asp7879=) rs374029795
NM_001164508.2(NEB):c.23638_23640del (p.His7880del) rs1553598770
NM_001164508.2(NEB):c.23643T>C (p.Ile7881=)
NM_001164508.2(NEB):c.23647T>C (p.Ser7883Pro)
NM_001164508.2(NEB):c.23648C>G (p.Ser7883Trp) rs202191938
NM_001164508.2(NEB):c.23649+10_23649+11del rs772001300
NM_001164508.2(NEB):c.23649+12G>C
NM_001164508.2(NEB):c.23649+18G>A
NM_001164508.2(NEB):c.23649+19C>G
NM_001164508.2(NEB):c.23649+9A>C rs2153186603
NM_001164508.2(NEB):c.23650-10A>C rs2153172348
NM_001164508.2(NEB):c.23650-15T>C
NM_001164508.2(NEB):c.23650-16A>C
NM_001164508.2(NEB):c.23650-1G>A rs2153172016
NM_001164508.2(NEB):c.23650-21_23650-20dup
NM_001164508.2(NEB):c.23650-2A>T
NM_001164508.2(NEB):c.23650-7T>C rs771206029
NM_001164508.2(NEB):c.23650-7_23650-6delinsAT rs1575422447
NM_001164508.2(NEB):c.23652G>A (p.Val7884=)
NM_001164508.2(NEB):c.23652G>C (p.Val7884=)
NM_001164508.2(NEB):c.23658T>C (p.Tyr7886=) rs2153171876
NM_001164508.2(NEB):c.23660del (p.Lys7887fs)
NM_001164508.2(NEB):c.23662G>A (p.Glu7888Lys)
NM_001164508.2(NEB):c.23667A>C (p.Ala7889=) rs2153171655
NM_001164508.2(NEB):c.23667A>G (p.Ala7889=) rs2153171655
NM_001164508.2(NEB):c.23669T>C (p.Ile7890Thr)
NM_001164508.2(NEB):c.23682T>G (p.Thr7894=)
NM_001164508.2(NEB):c.23691T>G (p.Pro7897=)
NM_001164508.2(NEB):c.23695C>T (p.Leu7899=) rs1403586555
NM_001164508.2(NEB):c.23705T>C (p.Val7902Ala)
NM_001164508.2(NEB):c.23709A>G (p.Lys7903=) rs2153171101
NM_001164508.2(NEB):c.23711G>A (p.Arg7904His)
NM_001164508.2(NEB):c.23711del (p.Arg7904fs)
NM_001164508.2(NEB):c.23712T>C (p.Arg7904=)
NM_001164508.2(NEB):c.23713G>A (p.Val7905Met)
NM_001164508.2(NEB):c.23715G>A (p.Val7905=)
NM_001164508.2(NEB):c.23721G>A (p.Glu7907=) rs1575420606
NM_001164508.2(NEB):c.23723C>T (p.Thr7908Met)
NM_001164508.2(NEB):c.23731C>A (p.His7911Asn)
NM_001164508.2(NEB):c.23733C>T (p.His7911=)
NM_001164508.2(NEB):c.23739C>T (p.Ser7913=)
NM_001164508.2(NEB):c.23741C>T (p.Ser7914Leu)
NM_001164508.2(NEB):c.23742+10A>G rs2153170023
NM_001164508.2(NEB):c.23742+15C>T
NM_001164508.2(NEB):c.23742+16T>G
NM_001164508.2(NEB):c.23742+1G>A
NM_001164508.2(NEB):c.23742+8C>G rs1575419282
NM_001164508.2(NEB):c.23742+8C>T rs1575419282
NM_001164508.2(NEB):c.23742+9_23742+17del
NM_001164508.2(NEB):c.23742G>A (p.Ser7914=)
NM_001164508.2(NEB):c.23743-14_23743-11dup
NM_001164508.2(NEB):c.23743-16T>C
NM_001164508.2(NEB):c.23743-1G>C rs797045098
NM_001164508.2(NEB):c.23743-4A>G
NM_001164508.2(NEB):c.23743-8_23743-7dup
NM_001164508.2(NEB):c.23743G>A (p.Val7915Ile) rs767404419
NM_001164508.2(NEB):c.23746_23747dup (p.Met7916fs) rs2153115303
NM_001164508.2(NEB):c.23752A>G (p.Lys7918Glu) rs758478063
NM_001164508.2(NEB):c.23754_23759dup (p.Lys7918_Glu7919dup) rs778176240
NM_001164508.2(NEB):c.23761T>C (p.Leu7921=)
NM_001164508.2(NEB):c.23765G>A (p.Gly7922Glu)
NM_001164508.2(NEB):c.23773A>G (p.Ile7925Val) rs1322894219
NM_001164508.2(NEB):c.23781C>T (p.Thr7927=) rs924084939
NM_001164508.2(NEB):c.23784T>C (p.Thr7928=) rs1334542380
NM_001164508.2(NEB):c.23786_23787del (p.Val7929fs)
NM_001164508.2(NEB):c.23786dup (p.Thr7930fs) rs756612643
NM_001164508.2(NEB):c.23798T>C (p.Ile7933Thr) rs140967744
NM_001164508.2(NEB):c.23802G>C (p.Glu7934Asp)
NM_001164508.2(NEB):c.23803_23806del (p.Arg7935fs)
NM_001164508.2(NEB):c.23805_23806del (p.Arg7935fs) rs753192734
NM_001164508.2(NEB):c.23827T>C (p.Phe7943Leu)
NM_001164508.2(NEB):c.23829T>C (p.Phe7943=) rs1575331983
NM_001164508.2(NEB):c.23834C>A (p.Ser7945Ter) rs755970391
NM_001164508.2(NEB):c.23834C>T (p.Ser7945Leu)
NM_001164508.2(NEB):c.23835+11A>G
NM_001164508.2(NEB):c.23835+14T>C
NM_001164508.2(NEB):c.23835+17C>T
NM_001164508.2(NEB):c.23835+1G>A rs781120931
NM_001164508.2(NEB):c.23835+20A>G rs2066191302
NM_001164508.2(NEB):c.23835+2T>C
NM_001164508.2(NEB):c.23835G>A (p.Ser7945=)
NM_001164508.2(NEB):c.23836-10T>C rs76591052
NM_001164508.2(NEB):c.23836-11G>T
NM_001164508.2(NEB):c.23836-14C>T
NM_001164508.2(NEB):c.23836-15T>C
NM_001164508.2(NEB):c.23836-19A>G
NM_001164508.2(NEB):c.23836-19A>T
NM_001164508.2(NEB):c.23836-1G>A
NM_001164508.2(NEB):c.23836-2A>G rs2153104173
NM_001164508.2(NEB):c.23836-5C>G rs1559296915
NM_001164508.2(NEB):c.23836-9_23836-6dup rs773113491
NM_001164508.2(NEB):c.23847A>G (p.Lys7949=)
NM_001164508.2(NEB):c.23847del (p.Glu7950fs) rs1575305566
NM_001164508.2(NEB):c.23848_23850del (p.Glu7950del) rs1553576655
NM_001164508.2(NEB):c.23848_23851dup (p.Asn7951fs) rs1559296376
NM_001164508.2(NEB):c.23856G>C (p.Leu7952Phe)
NM_001164508.2(NEB):c.23859G>A (p.Gly7953=)
NM_001164508.2(NEB):c.23862A>G (p.Lys7954=) rs753799779
NM_001164508.2(NEB):c.23867T>C (p.Ile7956Thr) rs933996254
NM_001164508.2(NEB):c.23869_23870delinsTA (p.Pro7957Ter)
NM_001164508.2(NEB):c.23871A>G (p.Pro7957=) rs922619160
NM_001164508.2(NEB):c.23872A>C (p.Thr7958Pro)
NM_001164508.2(NEB):c.23872_23874dup (p.Thr7958dup) rs764993333
NM_001164508.2(NEB):c.23878_23881dup (p.Thr7961fs)
NM_001164508.2(NEB):c.23886A>G (p.Pro7962=)
NM_001164508.2(NEB):c.23889G>A (p.Glu7963=) rs975397268
NM_001164508.2(NEB):c.23889G>C (p.Glu7963Asp) rs975397268
NM_001164508.2(NEB):c.23889G>T (p.Glu7963Asp)
NM_001164508.2(NEB):c.23895G>A (p.Glu7965=) rs1229640938
NM_001164508.2(NEB):c.23896_23899del (p.Arg7966fs) rs2153102752
NM_001164508.2(NEB):c.23898A>G (p.Arg7966=) rs2153102784
NM_001164508.2(NEB):c.23910_23913dup (p.Glu7972fs) rs761694639
NM_001164508.2(NEB):c.23916G>A (p.Glu7972=)
NM_001164508.2(NEB):c.23916G>C (p.Glu7972Asp)
NM_001164508.2(NEB):c.23926T>A (p.Ser7976Thr) rs2065743787
NM_001164508.2(NEB):c.23928+15G>T
NM_001164508.2(NEB):c.23928+18A>G
NM_001164508.2(NEB):c.23928+6_23928+9dup rs776388006
NM_001164508.2(NEB):c.23928+8T>C
NM_001164508.2(NEB):c.23929-12_23929-11del
NM_001164508.2(NEB):c.23929-1G>C rs2153074006
NM_001164508.2(NEB):c.23929-1_23930dup rs1427250696
NM_001164508.2(NEB):c.23929-20_23929-17del
NM_001164508.2(NEB):c.23929-2A>C rs1553569122
NM_001164508.2(NEB):c.23929-7CA[2] rs1217738625
NM_001164508.2(NEB):c.23929-8G>A rs1329790084
NM_001164508.2(NEB):c.23937C>A (p.Tyr7979Ter)
NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter) rs779173742
NM_001164508.2(NEB):c.23939_23942dup (p.Asn7982fs) rs2153073575
NM_001164508.2(NEB):c.23949G>C (p.Leu7983Phe) rs2153073370
NM_001164508.2(NEB):c.23953A>G (p.Lys7985Glu)
NM_001164508.2(NEB):c.23955G>C (p.Lys7985Asn) rs1189932875
NM_001164508.2(NEB):c.23957G>C (p.Gly7986Ala) rs2064473141
NM_001164508.2(NEB):c.23959A>C (p.Thr7987Pro)
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs) rs756384471
NM_001164508.2(NEB):c.23967dup (p.Pro7990fs) rs2064466448
NM_001164508.2(NEB):c.23971_23974dup (p.Thr7992fs)
NM_001164508.2(NEB):c.23984T>A (p.Met7995Lys)
NM_001164508.2(NEB):c.23984T>C (p.Met7995Thr) rs1064796521
NM_001164508.2(NEB):c.23990G>A (p.Arg7997Gln)
NM_001164508.2(NEB):c.23992G>A (p.Val7998Ile)
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_24006del (p.Asn8001fs) rs1553568447
NM_001164508.2(NEB):c.24003_24006dup (p.Glu8003fs) rs1553568447
NM_001164508.2(NEB):c.24004C>T (p.Gln8002Ter) rs2153072192
NM_001164508.2(NEB):c.24012C>T (p.Asn8004=) rs2153071991
NM_001164508.2(NEB):c.24012_24014dup (p.Phe8005dup) rs1553568381
NM_001164508.2(NEB):c.24014T>G (p.Phe8005Cys)
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs) rs1553568357
NM_001164508.2(NEB):c.24015T>C (p.Phe8005=) rs2153071781
NM_001164508.2(NEB):c.24016A>G (p.Ser8006Gly)
NM_001164508.2(NEB):c.24018C>T (p.Ser8006=) rs2153071679
NM_001164508.2(NEB):c.24020C>A (p.Ser8007Ter)
NM_001164508.2(NEB):c.24021+12A>C
NM_001164508.2(NEB):c.24021+12A>G
NM_001164508.2(NEB):c.24021+14A>C
NM_001164508.2(NEB):c.24021+15G>A
NM_001164508.2(NEB):c.24022-10T>G
NM_001164508.2(NEB):c.24022-11G>T
NM_001164508.2(NEB):c.24022-19G>A
NM_001164508.2(NEB):c.24022-1G>A rs1553561697
NM_001164508.2(NEB):c.24022-1_24029del rs1423137705
NM_001164508.2(NEB):c.24022-9_24022-8del
NM_001164508.2(NEB):c.24023_24026dup (p.Leu8009fs) rs1553561665
NM_001164508.2(NEB):c.24024G>A (p.Val8008=) rs2062732152
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs) rs772009599
NM_001164508.2(NEB):c.24025T>C (p.Leu8009=)
NM_001164508.2(NEB):c.24027G>A (p.Leu8009=) rs2153022914
NM_001164508.2(NEB):c.24028T>C (p.Tyr8010His) rs555681348
NM_001164508.2(NEB):c.24029A>G (p.Tyr8010Cys)
NM_001164508.2(NEB):c.24033A>G (p.Lys8011=)
NM_001164508.2(NEB):c.24034G>C (p.Glu8012Gln)
NM_001164508.2(NEB):c.24038del (p.Asn8013fs)
NM_001164508.2(NEB):c.24039del (p.Asn8013fs) rs1553561525
NM_001164508.2(NEB):c.24045A>C (p.Gly8015=)
NM_001164508.2(NEB):c.24046A>T (p.Lys8016Ter)
NM_001164508.2(NEB):c.24048A>G (p.Lys8016=) rs2153022018
NM_001164508.2(NEB):c.24060C>T (p.Ile8020=) rs2062699853
NM_001164508.2(NEB):c.24063C>T (p.Pro8021=)
NM_001164508.2(NEB):c.24066C>T (p.Ile8022=)
NM_001164508.2(NEB):c.24067A>G (p.Thr8023Ala) rs1323764871
NM_001164508.2(NEB):c.24071C>G (p.Pro8024Arg) rs2153021543
NM_001164508.2(NEB):c.24072dup (p.Glu8025fs)
NM_001164508.2(NEB):c.24075G>A (p.Glu8025=)
NM_001164508.2(NEB):c.24077_24084del (p.Met8026fs) rs2153021199
NM_001164508.2(NEB):c.24078G>A (p.Met8026Ile)
NM_001164508.2(NEB):c.24082A>C (p.Arg8028=)
NM_001164508.2(NEB):c.24082A>G (p.Arg8028Gly) rs2062685891
NM_001164508.2(NEB):c.24084_24085del (p.Arg8028fs)
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs) rs2153020985
NM_001164508.2(NEB):c.24093C>T (p.His8031=)
NM_001164508.2(NEB):c.24095A>G (p.Asn8032Ser) rs946188918
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs) rs1553561211
NM_001164508.2(NEB):c.24106T>C (p.Phe8036Leu)
NM_001164508.2(NEB):c.24107T>G (p.Phe8036Cys)
NM_001164508.2(NEB):c.24111T>C (p.Ser8037=) rs2153020511
NM_001164508.2(NEB):c.24113C>T (p.Ser8038Leu) rs1458048713
NM_001164508.2(NEB):c.24114+11dup
NM_001164508.2(NEB):c.24114+12T>A
NM_001164508.2(NEB):c.24114+12_24114+17del
NM_001164508.2(NEB):c.24114+17A>T
NM_001164508.2(NEB):c.24114+18A>T
NM_001164508.2(NEB):c.24114+18dup
NM_001164508.2(NEB):c.24114+1G>C
NM_001164508.2(NEB):c.24114+20C>T
NM_001164508.2(NEB):c.24114+4_24114+7dup rs1427403460
NM_001164508.2(NEB):c.24114G>A (p.Ser8038=) rs781581005
NM_001164508.2(NEB):c.24114G>T (p.Ser8038=) rs781581005
NM_001164508.2(NEB):c.24115-151C>A rs1575076895
NM_001164508.2(NEB):c.24115-16C>T
NM_001164508.2(NEB):c.24115-1G>A
NM_001164508.2(NEB):c.24115-2A>G rs2152992966
NM_001164508.2(NEB):c.24127_24130dup (p.Asn8044fs) rs1553556275
NM_001164508.2(NEB):c.24130_24131insGC (p.Asn8044fs)
NM_001164508.2(NEB):c.24132C>T (p.Asn8044=) rs1449906853
NM_001164508.2(NEB):c.24134T>G (p.Leu8045Arg)
NM_001164508.2(NEB):c.24136G>A (p.Gly8046Arg)
NM_001164508.2(NEB):c.24138G>A (p.Gly8046=)
NM_001164508.2(NEB):c.24141A>C (p.Thr8047=) rs2152992611
NM_001164508.2(NEB):c.24143del (p.Gly8048fs) rs1553556154
NM_001164508.2(NEB):c.24144A>G (p.Gly8048=)
NM_001164508.2(NEB):c.24157A>G (p.Ile8053Val)
NM_001164508.2(NEB):c.24158T>C (p.Ile8053Thr) rs2061739053
NM_001164508.2(NEB):c.24173A>G (p.Gln8058Arg)
NM_001164508.2(NEB):c.24175A>G (p.Arg8059Gly)
NM_001164508.2(NEB):c.24175_24178dup (p.Val8060fs) rs1266535163
NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs) rs2061721973
NM_001164508.2(NEB):c.24177A>G (p.Arg8059=) rs1030563077
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.24180C>T (p.Val8060=) rs2152991734
NM_001164508.2(NEB):c.24182_24185dup (p.His8062fs) rs2152991690
NM_001164508.2(NEB):c.24186C>T (p.His8062=)
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001164508.2(NEB):c.24192A>G (p.Gln8064=)
NM_001164508.2(NEB):c.24201T>C (p.Leu8067=) rs2152991428
NM_001164508.2(NEB):c.24206C>A (p.Ser8069Ter) rs1037388276
NM_001164508.2(NEB):c.24206C>T (p.Ser8069Leu)
NM_001164508.2(NEB):c.24207+12_24207+16dup rs1559228786
NM_001164508.2(NEB):c.24207+13G>C
NM_001164508.2(NEB):c.24207+13G>T
NM_001164508.2(NEB):c.24207+15_24207+16del
NM_001164508.2(NEB):c.24207+16A>C
NM_001164508.2(NEB):c.24207+17G>A
NM_001164508.2(NEB):c.24207+2T>C rs1553555768
NM_001164508.2(NEB):c.24207+3_24207+6dup
NM_001164508.2(NEB):c.24207+7T>G rs2152990979
NM_001164508.2(NEB):c.24207+8G>C rs756766749
NM_001164508.2(NEB):c.24208-12C>T
NM_001164508.2(NEB):c.24208-15T>C
NM_001164508.2(NEB):c.24208-20G>A
NM_001164508.2(NEB):c.24208-4A>G
NM_001164508.2(NEB):c.24208-6G>A
NM_001164508.2(NEB):c.24208-7C>A rs113048349
NM_001164508.2(NEB):c.24208-7_24208-6insTAA
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) rs781667543
NM_001164508.2(NEB):c.24210_24212dup (p.Leu8071dup) rs781667543
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs) rs1553552384
NM_001164508.2(NEB):c.24225C>T (p.Asn8075=) rs2152974722
NM_001164508.2(NEB):c.24238dup (p.Thr8080fs) rs1575024425
NM_001164508.2(NEB):c.24240C>G (p.Thr8080=)
NM_001164508.2(NEB):c.24243T>C (p.Pro8081=)
NM_001164508.2(NEB):c.24243T>G (p.Pro8081=) rs2152974067
NM_001164508.2(NEB):c.24244T>C (p.Leu8082=) rs1449585285
NM_001164508.2(NEB):c.24245T>A (p.Leu8082Ter) rs1559218052
NM_001164508.2(NEB):c.24249T>C (p.Pro8083=)
NM_001164508.2(NEB):c.24262_24264dup (p.Met8088dup) rs769252768
NM_001164508.2(NEB):c.24267A>G (p.Glu8089=)
NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs) rs747564597
NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs) rs747564597
NM_001164508.2(NEB):c.24268del (p.Arg8090fs)
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.24277_24280dup (p.Asn8094fs) rs1553551650
NM_001164508.2(NEB):c.24282_24285del (p.Asn8094fs)
NM_001164508.2(NEB):c.24286del (p.Glu8096fs)
NM_001164508.2(NEB):c.24291T>C (p.Asn8097=) rs2152973027
NM_001164508.2(NEB):c.24291_24294dup (p.Ser8099delinsTyrTer) rs2061157682
NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup) rs780724946
NM_001164508.2(NEB):c.24294T>C (p.Ile8098=) rs910622324
NM_001164508.2(NEB):c.24297C>T (p.Ser8099=)
NM_001164508.2(NEB):c.24297_24300+1del
NM_001164508.2(NEB):c.24300+15A>T rs986148550
NM_001164508.2(NEB):c.24300+18G>C
NM_001164508.2(NEB):c.24300+18_24300+20del
NM_001164508.2(NEB):c.24300+6_24300+7dup rs1575019629
NM_001164508.2(NEB):c.24300+7T>C rs2152972231
NM_001164508.2(NEB):c.24300+7T>G
NM_001164508.2(NEB):c.24300+8G>C
NM_001164508.2(NEB):c.24300G>C (p.Ser8100=) rs541126160
NM_001164508.2(NEB):c.24301-10T>A
NM_001164508.2(NEB):c.24301-10T>C
NM_001164508.2(NEB):c.24301-19T>A rs940899832
NM_001164508.2(NEB):c.24301-1G>T
NM_001164508.2(NEB):c.24301-5C>T
NM_001164508.2(NEB):c.24301-6G>A rs1276441858
NM_001164508.2(NEB):c.24301-6G>T
NM_001164508.2(NEB):c.24301-7C>G rs755582434
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.24303G>A (p.Val8101=) rs1047052144
NM_001164508.2(NEB):c.24303_24305dup (p.Leu8102dup) rs1344099907
NM_001164508.2(NEB):c.24304T>C (p.Leu8102=)
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.24327G>A (p.Lys8109=) rs1574981537
NM_001164508.2(NEB):c.24329_24332dup (p.Pro8112fs) rs1574981296
NM_001164508.2(NEB):c.24331dup (p.Thr8111fs)
NM_001164508.2(NEB):c.24332C>A (p.Thr8111Asn)
NM_001164508.2(NEB):c.24332C>T (p.Thr8111Ile)
NM_001164508.2(NEB):c.24335_24338dup (p.Pro8114fs)
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs) rs934111355
NM_001164508.2(NEB):c.24342T>C (p.Pro8114=) rs2060652221
NM_001164508.2(NEB):c.24350C>G (p.Pro8117Arg)
NM_001164508.2(NEB):c.24351T>A (p.Pro8117=)
NM_001164508.2(NEB):c.24354G>A (p.Glu8118=)
NM_001164508.2(NEB):c.24355_24357dup (p.Met8119dup) rs942843328
NM_001164508.2(NEB):c.24358del (p.Glu8120fs)
NM_001164508.2(NEB):c.24361A>C (p.Arg8121=)
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.24375T>C (p.Asn8125=)
NM_001164508.2(NEB):c.24375_24377dup (p.Asn8125_Gln8126insHis) rs1372551649
NM_001164508.2(NEB):c.24376C>T (p.Gln8126Ter)
NM_001164508.2(NEB):c.24376_24377insCC (p.Gln8126fs) rs2152954992
NM_001164508.2(NEB):c.24377_24383del (p.Gln8126fs) rs1553548018
NM_001164508.2(NEB):c.24386_24388dup (p.Ile8129dup) rs767474018
NM_001164508.2(NEB):c.24387T>C (p.Ile8129=)
NM_001164508.2(NEB):c.24389G>C (p.Ser8130Thr) rs2152954710
NM_001164508.2(NEB):c.24393+10C>G rs1306898539
NM_001164508.2(NEB):c.24393+14A>G
NM_001164508.2(NEB):c.24393+7G>T rs1574976591
NM_001164508.2(NEB):c.24393+9G>A
NM_001164508.2(NEB):c.24393+9del rs2152954437
NM_001164508.2(NEB):c.24394-15T>C
NM_001164508.2(NEB):c.24394-17G>A
NM_001164508.2(NEB):c.24394-1G>A rs1421095081
NM_001164508.2(NEB):c.24394-1G>C
NM_001164508.2(NEB):c.24394-20G>A
NM_001164508.2(NEB):c.24394-6G>T rs1160511236
NM_001164508.2(NEB):c.24394G>C (p.Val8132Leu)
NM_001164508.2(NEB):c.24397_24398dup (p.Leu8133fs) rs1553545126
NM_001164508.2(NEB):c.24426T>C (p.Thr8142=) rs1049256350
NM_001164508.2(NEB):c.24429T>C (p.Pro8143=)
NM_001164508.2(NEB):c.24430T>C (p.Leu8144=) rs2060153338
NM_001164508.2(NEB):c.24433G>A (p.Ala8145Thr)
NM_001164508.2(NEB):c.24436_24439dup (p.Thr8147fs)
NM_001164508.2(NEB):c.24444C>G (p.Pro8148=) rs767654655
NM_001164508.2(NEB):c.24444C>T (p.Pro8148=) rs767654655
NM_001164508.2(NEB):c.24447G>A (p.Glu8149=)
NM_001164508.2(NEB):c.24451G>A (p.Glu8151Lys) rs1385464726
NM_001164508.2(NEB):c.24453_24454delinsAA (p.Glu8151_Arg8152=) rs1574938607
NM_001164508.2(NEB):c.24454C>G (p.Arg8152Gly) rs763364977
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter) rs763364977
NM_001164508.2(NEB):c.24461_24464dup (p.His8155fs) rs2152937269
NM_001164508.2(NEB):c.24469C>T (p.Gln8157Ter)
NM_001164508.2(NEB):c.24472_24474del (p.Glu8158del) rs1553544463
NM_001164508.2(NEB):c.24477_24480dup (p.Ser8161delinsTyrTer) rs797044606
NM_001164508.2(NEB):c.24480T>C (p.Ile8160=) rs746456810
NM_001164508.2(NEB):c.24486+10G>A rs755064162
NM_001164508.2(NEB):c.24486+17G>C rs2060106681
NM_001164508.2(NEB):c.24486+19A>G
NM_001164508.2(NEB):c.24486+7G>T
NM_001164508.2(NEB):c.24486+9C>A rs763870394
NM_001164508.2(NEB):c.24487-16C>A
NM_001164508.2(NEB):c.24487-17C>T
NM_001164508.2(NEB):c.24487-1G>A
NM_001164508.2(NEB):c.24487-20G>T
NM_001164508.2(NEB):c.24487-26_24487-19del
NM_001164508.2(NEB):c.24487-27_24487-20del
NM_001164508.2(NEB):c.24487-2A>G
NM_001164508.2(NEB):c.24487-35CTTTTTGG[3]
NM_001164508.2(NEB):c.24487-6_24491del
NM_001164508.2(NEB):c.24487-7C>T rs2152877064
NM_001164508.2(NEB):c.24492G>A (p.Leu8164=)
NM_001164508.2(NEB):c.24495C>T (p.Tyr8165=)
NM_001164508.2(NEB):c.24503dup (p.Asn8168fs) rs2152876577
NM_001164508.2(NEB):c.24504T>C (p.Asn8168=) rs2152876508
NM_001164508.2(NEB):c.24508G>A (p.Gly8170Arg) rs1553537770
NM_001164508.2(NEB):c.24508G>C (p.Gly8170Arg) rs1553537770
NM_001164508.2(NEB):c.24510dup (p.Lys8171fs)
NM_001164508.2(NEB):c.24517_24518dup (p.Ala8174fs) rs2152876293
NM_001164508.2(NEB):c.24518C>T (p.Thr8173Ile)
NM_001164508.2(NEB):c.24519C>A (p.Thr8173=) rs748978197
NM_001164508.2(NEB):c.24519C>T (p.Thr8173=) rs748978197
NM_001164508.2(NEB):c.24522A>G (p.Ala8174=) rs1574795954
NM_001164508.2(NEB):c.24531C>A (p.Val8177=) rs2152875794
NM_001164508.2(NEB):c.24536C>T (p.Pro8179Leu)
NM_001164508.2(NEB):c.24540G>A (p.Glu8180=)
NM_001164508.2(NEB):c.24546G>A (p.Gln8182=) rs1158236657
NM_001164508.2(NEB):c.24546del (p.Arg8183fs)
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs) rs755863625
NM_001164508.2(NEB):c.24552C>G (p.Val8184=) rs750690826
NM_001164508.2(NEB):c.24552C>T (p.Val8184=) rs750690826
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs) rs1553537512
NM_001164508.2(NEB):c.24561T>A (p.Asn8187Lys)
NM_001164508.2(NEB):c.24561T>C (p.Asn8187=) rs754144094
NM_001164508.2(NEB):c.24575G>C (p.Ser8192Thr) rs2152874768
NM_001164508.2(NEB):c.24575dup (p.Ser8192fs) rs2152874815
NM_001164508.2(NEB):c.24579+1G>T rs2058584112
NM_001164508.2(NEB):c.24579+2T>C rs1039759571
NM_001164508.2(NEB):c.24579+9T>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.24580-11G>A
NM_001164508.2(NEB):c.24580-1G>C rs1574772311
NM_001164508.2(NEB):c.24580-2A>G rs113290650
NM_001164508.2(NEB):c.24581T>A (p.Val8194Glu)
NM_001164508.2(NEB):c.24582G>A (p.Val8194=)
NM_001164508.2(NEB):c.24586T>C (p.Tyr8196His)
NM_001164508.2(NEB):c.24589A>G (p.Lys8197Glu)
NM_001164508.2(NEB):c.24598C>T (p.Leu8200=)
NM_001164508.2(NEB):c.24603G>A (p.Gly8201=)
NM_001164508.2(NEB):c.24605_24606insCACTCAGC (p.Lys8202fs)
NM_001164508.2(NEB):c.24608C>G (p.Ala8203Gly) rs2152863881
NM_001164508.2(NEB):c.24612C>A (p.Thr8204=)
NM_001164508.2(NEB):c.24615_24616insCA (p.Thr8206fs)
NM_001164508.2(NEB):c.24617del (p.Thr8206fs) rs2152863770
NM_001164508.2(NEB):c.24619C>A (p.Pro8207Thr)
NM_001164508.2(NEB):c.24620C>G (p.Pro8207Arg)
NM_001164508.2(NEB):c.24624T>C (p.Phe8208=)
NM_001164508.2(NEB):c.24625A>G (p.Thr8209Ala) rs1680474922
NM_001164508.2(NEB):c.24630T>C (p.Pro8210=) rs1331906548
NM_001164508.2(NEB):c.24632A>C (p.Glu8211Ala) rs201243201
NM_001164508.2(NEB):c.24633G>A (p.Glu8211=)
NM_001164508.2(NEB):c.24636G>A (p.Met8212Ile) rs770656983
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.24657A>C (p.Gln8219His)
NM_001164508.2(NEB):c.24660A>G (p.Glu8220=)
NM_001164508.2(NEB):c.24660A>T (p.Glu8220Asp)
NM_001164508.2(NEB):c.24662dup (p.Asn8221fs)
NM_001164508.2(NEB):c.24663C>T (p.Asn8221=) rs2152862292
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer) rs794727136
NM_001164508.2(NEB):c.24666T>C (p.Phe8222=) rs2152862127
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001164508.2(NEB):c.24667dup (p.Ser8223fs)
NM_001164508.2(NEB):c.24668G>A (p.Ser8223Asn)
NM_001164508.2(NEB):c.24672+11A>C
NM_001164508.2(NEB):c.24672+1G>C
NM_001164508.2(NEB):c.24672+1del rs2152861881
NM_001164508.2(NEB):c.24672+7T>C rs2152861490
NM_001164508.2(NEB):c.24672+7dup rs750437206
NM_001164508.2(NEB):c.24673-10G>T rs2058075467
NM_001164508.2(NEB):c.24673-18C>A
NM_001164508.2(NEB):c.24673-19G>A
NM_001164508.2(NEB):c.24673-1G>A rs1574741105
NM_001164508.2(NEB):c.24673-1G>C
NM_001164508.2(NEB):c.24673-20T>C rs886038450
NM_001164508.2(NEB):c.24673-2A>C rs112687345
NM_001164508.2(NEB):c.24673-6C>T rs2152852833
NM_001164508.2(NEB):c.24673-7dup rs1177278436
NM_001164508.2(NEB):c.24683_24684del (p.Lys8228fs)
NM_001164508.2(NEB):c.24690C>G (p.Asn8230Lys) rs2058061871
NM_001164508.2(NEB):c.24690C>T (p.Asn8230=)
NM_001164508.2(NEB):c.24700G>C (p.Ala8234Pro)
NM_001164508.2(NEB):c.24703dup (p.Thr8235fs)
NM_001164508.2(NEB):c.24708G>C (p.Pro8236=) rs768683537
NM_001164508.2(NEB):c.24710C>T (p.Thr8237Ile) rs369083039
NM_001164508.2(NEB):c.24710_24731del (p.Thr8237fs) rs761067911
NM_001164508.2(NEB):c.24710dup (p.Pro8238fs)
NM_001164508.2(NEB):c.24714T>C (p.Pro8238=) rs775453998
NM_001164508.2(NEB):c.24720T>C (p.Thr8240=)
NM_001164508.2(NEB):c.24722C>T (p.Pro8241Leu) rs2152851388
NM_001164508.2(NEB):c.24722_24723del (p.Pro8241fs)
NM_001164508.2(NEB):c.24728T>G (p.Met8243Arg) rs778196202
NM_001164508.2(NEB):c.24730G>T (p.Glu8244Ter)
NM_001164508.2(NEB):c.24731A>G (p.Glu8244Gly) rs2152851090
NM_001164508.2(NEB):c.24733A>G (p.Arg8245Gly) rs2058041442
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs) rs776059611
NM_001164508.2(NEB):c.24754A>G (p.Asn8252Asp)
NM_001164508.2(NEB):c.24756C>T (p.Asn8252=)
NM_001164508.2(NEB):c.24758T>C (p.Ile8253Thr)
NM_001164508.2(NEB):c.24762C>T (p.Ser8254=)
NM_001164508.2(NEB):c.24764C>T (p.Ser8255Leu)
NM_001164508.2(NEB):c.24765+11G>A
NM_001164508.2(NEB):c.24765+15T>A
NM_001164508.2(NEB):c.24765+15T>C
NM_001164508.2(NEB):c.24765+19_24765+24del
NM_001164508.2(NEB):c.24765+1G>A rs2058028669
NM_001164508.2(NEB):c.24765+2T>A rs2152850167
NM_001164508.2(NEB):c.24765+8C>A
NM_001164508.2(NEB):c.24765G>A (p.Ser8255=)
NM_001164508.2(NEB):c.24766-16G>A
NM_001164508.2(NEB):c.24766-16G>C
NM_001164508.2(NEB):c.24766-17G>A
NM_001164508.2(NEB):c.24766-1G>C rs2152829108
NM_001164508.2(NEB):c.24766-5A>G rs2152829210
NM_001164508.2(NEB):c.24766-6C>A rs2057361729
NM_001164508.2(NEB):c.24766-6C>T rs2057361729
NM_001164508.2(NEB):c.24766-7G>T
NM_001164508.2(NEB):c.24766-9C>T rs1214414494
NM_001164508.2(NEB):c.24766-9_24767del rs1553530144
NM_001164508.2(NEB):c.24769C>A (p.Leu8257Ile)
NM_001164508.2(NEB):c.24769C>T (p.Leu8257Phe)
NM_001164508.2(NEB):c.24772T>A (p.Tyr8258Asn)
NM_001164508.2(NEB):c.24775_24780del (p.Asp8260_Ser8261del)
NM_001164508.2(NEB):c.24781A>G (p.Ser8261Gly)
NM_001164508.2(NEB):c.24783T>C (p.Ser8261=) rs780485898
NM_001164508.2(NEB):c.24787C>T (p.Arg8263Trp)
NM_001164508.2(NEB):c.24788G>A (p.Arg8263Gln) rs745615279
NM_001164508.2(NEB):c.24798del (p.Gln8267fs)
NM_001164508.2(NEB):c.24799C>G (p.Gln8267Glu) rs2152828559
NM_001164508.2(NEB):c.24802G>A (p.Gly8268Ser)
NM_001164508.2(NEB):c.24816T>C (p.Tyr8272=)
NM_001164508.2(NEB):c.24816T>G (p.Tyr8272Ter) rs1265163979
NM_001164508.2(NEB):c.24817G>A (p.Val8273Ile)
NM_001164508.2(NEB):c.24819A>G (p.Val8273=)
NM_001164508.2(NEB):c.24827C>A (p.Thr8276Asn)
NM_001164508.2(NEB):c.24827C>T (p.Thr8276Ile)
NM_001164508.2(NEB):c.24828C>T (p.Thr8276=)
NM_001164508.2(NEB):c.24829C>G (p.Pro8277Ala)
NM_001164508.2(NEB):c.24830C>A (p.Pro8277His) rs2152828148
NM_001164508.2(NEB):c.24831C>G (p.Pro8277=) rs1170681985
NM_001164508.2(NEB):c.24832G>C (p.Glu8278Gln)
NM_001164508.2(NEB):c.24839G>A (p.Arg8280Lys) rs759522039
NM_001164508.2(NEB):c.24845T>C (p.Val8282Ala)
NM_001164508.2(NEB):c.24850G>A (p.Glu8284Lys)
NM_001164508.2(NEB):c.24857A>G (p.Gln8286Arg)
NM_001164508.2(NEB):c.24859C>A (p.Arg8287=) rs200804762
NM_001164508.2(NEB):c.24859C>T (p.Arg8287Trp) rs200804762
NM_001164508.2(NEB):c.24860G>A (p.Arg8287Gln)
NM_001164508.2(NEB):c.24867C>A (p.Ile8289=)
NM_001164508.2(NEB):c.24872C>T (p.Thr8291Met)
NM_001164508.2(NEB):c.24873+10G>A rs2152826984
NM_001164508.2(NEB):c.24873+12A>G
NM_001164508.2(NEB):c.24873+15_24873+18dup
NM_001164508.2(NEB):c.24873+18T>C
NM_001164508.2(NEB):c.24873+20G>A
NM_001164508.2(NEB):c.24873+20G>C
NM_001164508.2(NEB):c.24873+2T>C
NM_001164508.2(NEB):c.24873+9G>A rs2057311671
NM_001164508.2(NEB):c.24873G>T (p.Thr8291=)
NM_001164508.2(NEB):c.24874-16A>G
NM_001164508.2(NEB):c.24874-9A>T rs2152823775
NM_001164508.2(NEB):c.24875T>C (p.Val8292Ala)
NM_001164508.2(NEB):c.24883_24885del (p.His8295del) rs1553527955
NM_001164508.2(NEB):c.24901C>A (p.His8301Asn)
NM_001164508.2(NEB):c.24903C>T (p.His8301=)
NM_001164508.2(NEB):c.24907G>C (p.Gly8303Arg) rs780925059
NM_001164508.2(NEB):c.24908G>A (p.Gly8303Asp)
NM_001164508.2(NEB):c.24911_24914dup (p.Phe8305fs) rs2152822941
NM_001164508.2(NEB):c.24913_24914delinsA (p.Phe8305fs)
NM_001164508.2(NEB):c.24919C>A (p.Pro8307Thr) rs886054927
NM_001164508.2(NEB):c.24923T>C (p.Val8308Ala)
NM_001164508.2(NEB):c.24925G>C (p.Val8309Leu) rs1401528056
NM_001164508.2(NEB):c.24927G>A (p.Val8309=) rs1305389773
NM_001164508.2(NEB):c.24930A>C (p.Thr8310=)
NM_001164508.2(NEB):c.24946C>G (p.Arg8316Gly)
NM_001164508.2(NEB):c.24947G>A (p.Arg8316Gln)
NM_001164508.2(NEB):c.24949G>A (p.Val8317Ile) rs1341580706
NM_001164508.2(NEB):c.24951A>C (p.Val8317=)
NM_001164508.2(NEB):c.24954GAA[1] (p.Lys8319del) rs755822172
NM_001164508.2(NEB):c.24957_24958del (p.Asn8320fs)
NM_001164508.2(NEB):c.24968_24969insG (p.Asp8323fs)
NM_001164508.2(NEB):c.24971T>C (p.Phe8324Ser)
NM_001164508.2(NEB):c.24972C>T (p.Phe8324=)
NM_001164508.2(NEB):c.24980T>C (p.Ile8327Thr) rs775698655
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter) rs767709270
NM_001164508.2(NEB):c.24989G>A (p.Arg8330Gln)
NM_001164508.2(NEB):c.24994_24995dup (p.Gln8333fs)
NM_001164508.2(NEB):c.24996del (p.Gln8333fs) rs1553526884
NM_001164508.2(NEB):c.24997C>T (p.Gln8333Ter)
NM_001164508.2(NEB):c.24998A>T (p.Gln8333Leu)
NM_001164508.2(NEB):c.24999G>A (p.Gln8333=) rs774663967
NM_001164508.2(NEB):c.25002G>A (p.Arg8334=) rs267598917
NM_001164508.2(NEB):c.25003A>T (p.Lys8335Ter) rs2152821411
NM_001164508.2(NEB):c.25005A>G (p.Lys8335=) rs996538018
NM_001164508.2(NEB):c.25007T>C (p.Val8336Ala) rs1574651626
NM_001164508.2(NEB):c.25008G>A (p.Val8336=)
NM_001164508.2(NEB):c.25010T>G (p.Val8337Gly) rs2057127460
NM_001164508.2(NEB):c.25012delinsTA (p.Glu8338Ter) rs1553526619
NM_001164508.2(NEB):c.25021C>A (p.Gln8341Lys)
NM_001164508.2(NEB):c.25027C>T (p.Arg8343Trp)
NM_001164508.2(NEB):c.25029G>A (p.Arg8343=)
NM_001164508.2(NEB):c.25037A>G (p.Gln8346Arg) rs2057118708
NM_001164508.2(NEB):c.25039G>C (p.Asp8347His)
NM_001164508.2(NEB):c.25047G>A (p.Glu8349=)
NM_001164508.2(NEB):c.25049C>T (p.Thr8350Ile) rs2057112732
NM_001164508.2(NEB):c.25053T>A (p.Ile8351=) rs1316503376
NM_001164508.2(NEB):c.25053T>C (p.Ile8351=) rs1316503376
NM_001164508.2(NEB):c.25057+12T>C
NM_001164508.2(NEB):c.25057+15G>A
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.25057+20G>A
NM_001164508.2(NEB):c.25057+9G>A rs2152820055
NM_001164508.2(NEB):c.25058-10T>C
NM_001164508.2(NEB):c.25058-13G>A
NM_001164508.2(NEB):c.25058-16_25058-14dup
NM_001164508.2(NEB):c.25058-2A>C rs866309952
NM_001164508.2(NEB):c.25061del (p.Leu8354fs)
NM_001164508.2(NEB):c.25066G>A (p.Val8356Ile)
NM_001164508.2(NEB):c.25077T>C (p.Thr8359=) rs2152811147
NM_001164508.2(NEB):c.25080T>A (p.Asn8360Lys)
NM_001164508.2(NEB):c.25083T>C (p.Pro8361=) rs781270392
NM_001164508.2(NEB):c.25088C>A (p.Ser8363Ter)
NM_001164508.2(NEB):c.25088C>T (p.Ser8363Leu)
NM_001164508.2(NEB):c.25098C>T (p.Asp8366=)
NM_001164508.2(NEB):c.25099T>C (p.Tyr8367His)
NM_001164508.2(NEB):c.25101T>C (p.Tyr8367=)
NM_001164508.2(NEB):c.25105C>G (p.Pro8369Ala) rs1038960610
NM_001164508.2(NEB):c.25107A>C (p.Pro8369=) rs763433145
NM_001164508.2(NEB):c.25116C>T (p.Asp8372=)
NM_001164508.2(NEB):c.25119C>A (p.Asn8373Lys)
NM_001164508.2(NEB):c.25119C>T (p.Asn8373=) rs765813999
NM_001164508.2(NEB):c.25128C>T (p.Ser8376=)
NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter) rs777232352
NM_001164508.2(NEB):c.25130G>C (p.Arg8377Pro)
NM_001164508.2(NEB):c.25132A>G (p.Ser8378Gly)
NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter) rs760200697
NM_001164508.2(NEB):c.25140C>G (p.His8380Gln)
NM_001164508.2(NEB):c.25142T>C (p.Met8381Thr)
NM_001164508.2(NEB):c.25146T>C (p.Ile8382=)
NM_001164508.2(NEB):c.25150+16_25150+17insC
NM_001164508.2(NEB):c.25150+1G>C
NM_001164508.2(NEB):c.25150+8A>G rs1293280918
NM_001164508.2(NEB):c.25150+9G>T rs2152809670
NM_001164508.2(NEB):c.25151-12C>A
NM_001164508.2(NEB):c.25151-1G>T rs1553520609
NM_001164508.2(NEB):c.25151-5C>T rs1289143121
NM_001164508.2(NEB):c.25151-9C>T
NM_001164508.2(NEB):c.25152C>G (p.Val8384=)
NM_001164508.2(NEB):c.25153C>A (p.Gln8385Lys)
NM_001164508.2(NEB):c.25158_25159del (p.Gln8387fs)
NM_001164508.2(NEB):c.25162C>A (p.Arg8388Ser)
NM_001164508.2(NEB):c.25165del (p.Arg8389fs)
NM_001164508.2(NEB):c.25166G>A (p.Arg8389Gln)
NM_001164508.2(NEB):c.25170C>T (p.Ser8390=)
NM_001164508.2(NEB):c.25174G>A (p.Glu8392Lys) rs121913662
NM_001164508.2(NEB):c.25174G>T (p.Glu8392Ter) rs121913662
NM_001164508.2(NEB):c.25176G>A (p.Glu8392=)
NM_001164508.2(NEB):c.25179G>A (p.Gln8393=) rs2152778292
NM_001164508.2(NEB):c.25180T>C (p.Ser8394Pro)
NM_001164508.2(NEB):c.25181C>A (p.Ser8394Ter) rs2055484249
NM_001164508.2(NEB):c.25182_25187del (p.Arg8395_Ser8396del) rs1553520388
NM_001164508.2(NEB):c.25184G>T (p.Arg8395Leu) rs779983347
NM_001164508.2(NEB):c.25188T>G (p.Ser8396=) rs758444605
NM_001164508.2(NEB):c.25192A>G (p.Ser8398Gly) rs1308512715
NM_001164508.2(NEB):c.25197A>C (p.Ala8399=) rs779234504
NM_001164508.2(NEB):c.25198C>T (p.Leu8400=) rs2055471102
NM_001164508.2(NEB):c.25203_25204inv (p.Ile8402Val)
NM_001164508.2(NEB):c.25208G>A (p.Ser8403Asn) rs374494479
NM_001164508.2(NEB):c.25209dup (p.Gly8404fs) rs2152777457
NM_001164508.2(NEB):c.25212G>A (p.Gly8404=) rs1354948924
NM_001164508.2(NEB):c.25212G>T (p.Gly8404=)
NM_001164508.2(NEB):c.25214G>T (p.Gly8405Val) rs768811942
NM_001164508.2(NEB):c.25214del (p.Gly8405fs) rs1553520266
NM_001164508.2(NEB):c.25215_25216del (p.Glu8406fs)
NM_001164508.2(NEB):c.25216GAG[1] (p.Glu8407del)
NM_001164508.2(NEB):c.25218G>A (p.Glu8406=)
NM_001164508.2(NEB):c.25227T>A (p.Ser8409=) rs2152776955
NM_001164508.2(NEB):c.25227T>C (p.Ser8409=)
NM_001164508.2(NEB):c.25228G>A (p.Glu8410Lys)
NM_001164508.2(NEB):c.25235_25297+90del
NM_001164508.2(NEB):c.25236A>G (p.Ser8412=) rs1574544943
NM_001164508.2(NEB):c.25251C>T (p.His8417=) rs2152776470
NM_001164508.2(NEB):c.25255C>T (p.Leu8419Phe)
NM_001164508.2(NEB):c.25258T>C (p.Ser8420Pro) rs886054925
NM_001164508.2(NEB):c.25259C>A (p.Ser8420Ter) rs949111967
NM_001164508.2(NEB):c.25260G>C (p.Ser8420=)
NM_001164508.2(NEB):c.25261A>C (p.Thr8421Pro)
NM_001164508.2(NEB):c.25269C>T (p.Ser8423=) rs776563539
NM_001164508.2(NEB):c.25272C>T (p.Asp8424=) rs772073084
NM_001164508.2(NEB):c.25273G>A (p.Gly8425Arg)
NM_001164508.2(NEB):c.25287A>C (p.Ala8429=) rs915172166
NM_001164508.2(NEB):c.25287A>G (p.Ala8429=)
NM_001164508.2(NEB):c.25290C>T (p.Val8430=)
NM_001164508.2(NEB):c.25297+15del
NM_001164508.2(NEB):c.25297+1G>A rs113525641
NM_001164508.2(NEB):c.25297+2del rs1553519860
NM_001164508.2(NEB):c.25297+4C>T rs1410859190
NM_001164508.2(NEB):c.25297+9G>C
NM_001164508.2(NEB):c.25298-10T>C
NM_001164508.2(NEB):c.25298-11_25298-10del rs1553519312
NM_001164508.2(NEB):c.25298-11dup rs34415027
NM_001164508.2(NEB):c.25298-13C>G
NM_001164508.2(NEB):c.25298-14C>A
NM_001164508.2(NEB):c.25298-14C>G
NM_001164508.2(NEB):c.25298-15C>T
NM_001164508.2(NEB):c.25298-16G>T
NM_001164508.2(NEB):c.25298-18T>G
NM_001164508.2(NEB):c.25298-2A>C
NM_001164508.2(NEB):c.25298-2A>G
NM_001164508.2(NEB):c.25298-4T>C
NM_001164508.2(NEB):c.25298-4del
NM_001164508.2(NEB):c.25298-4dup rs757290966
NM_001164508.2(NEB):c.25304A>G (p.Lys8435Arg)
NM_001164508.2(NEB):c.25308T>C (p.His8436=) rs966105402
NM_001164508.2(NEB):c.25323G>A (p.Glu8441=) rs1370977464
NM_001164508.2(NEB):c.25333C>T (p.Gln8445Ter) rs2152763931
NM_001164508.2(NEB):c.25337G>A (p.Arg8446Gln) rs751128054
NM_001164508.2(NEB):c.25338A>G (p.Arg8446=) rs2152763764
NM_001164508.2(NEB):c.25340C>A (p.Ser8447Ter) rs1553519124
NM_001164508.2(NEB):c.25343C>T (p.Ser8448Phe)
NM_001164508.2(NEB):c.25344T>C (p.Ser8448=)
NM_001164508.2(NEB):c.25345_25347del (p.Ser8449del) rs1553519071
NM_001164508.2(NEB):c.25347A>T (p.Ser8449=) rs779552151
NM_001164508.2(NEB):c.25350T>C (p.Val8450=)
NM_001164508.2(NEB):c.25352C>T (p.Ala8451Val)
NM_001164508.2(NEB):c.25359A>G (p.Gln8453=) rs377748897
NM_001164508.2(NEB):c.25360C>T (p.Gln8454Ter)
NM_001164508.2(NEB):c.25361A>G (p.Gln8454Arg)
NM_001164508.2(NEB):c.25362G>A (p.Gln8454=)
NM_001164508.2(NEB):c.25377C>T (p.Ser8459=) rs2054887340
NM_001164508.2(NEB):c.25386T>C (p.Ser8462=)
NM_001164508.2(NEB):c.25390C>A (p.Pro8464Thr) rs376984481
NM_001164508.2(NEB):c.25390C>G (p.Pro8464Ala)
NM_001164508.2(NEB):c.25396A>G (p.Thr8466Ala) rs2152762849
NM_001164508.2(NEB):c.25404+10T>A rs763079125
NM_001164508.2(NEB):c.25404+10T>C rs763079125
NM_001164508.2(NEB):c.25404+13C>T
NM_001164508.2(NEB):c.25404+14A>G
NM_001164508.2(NEB):c.25404+14A>T
NM_001164508.2(NEB):c.25404+2T>A rs1553518813
NM_001164508.2(NEB):c.25405-10C>T
NM_001164508.2(NEB):c.25405-11C>T
NM_001164508.2(NEB):c.25405-12C>A
NM_001164508.2(NEB):c.25405-15del
NM_001164508.2(NEB):c.25405-17T>A
NM_001164508.2(NEB):c.25405-17dup rs148839798
NM_001164508.2(NEB):c.25405-1G>C rs1553508368
NM_001164508.2(NEB):c.25405-20T>G
NM_001164508.2(NEB):c.25405-6G>T
NM_001164508.2(NEB):c.25409T>C (p.Ile8470Thr) rs1280701887
NM_001164508.2(NEB):c.25413C>T (p.Phe8471=) rs2152621085
NM_001164508.2(NEB):c.25426_25429dup (p.Tyr8477Ter) rs2152620357
NM_001164508.2(NEB):c.25429T>C (p.Tyr8477His)
NM_001164508.2(NEB):c.25438G>T (p.Ala8480Ser)
NM_001164508.2(NEB):c.25443T>C (p.Asp8481=)
NM_001164508.2(NEB):c.25444G>A (p.Ala8482Thr)
NM_001164508.2(NEB):c.25447G>C (p.Asp8483His) rs993833092
NM_001164508.2(NEB):c.25447G>T (p.Asp8483Tyr)
NM_001164508.2(NEB):c.25452G>A (p.Glu8484=) rs2152619253
NM_001164508.2(NEB):c.25464G>A (p.Lys8488=)
NM_001164508.2(NEB):c.25469G>A (p.Gly8490Glu)
NM_001164508.2(NEB):c.25476C>A (p.Ala8492=)
NM_001164508.2(NEB):c.25479C>T (p.Ile8493=) rs2049826815
NM_001164508.2(NEB):c.25498G>A (p.Asp8500Asn) rs1574251962
NM_001164508.2(NEB):c.25500T>C (p.Asp8500=)
NM_001164508.2(NEB):c.25501G>T (p.Glu8501Ter) rs1304300842
NM_001164508.2(NEB):c.25508G>A (p.Trp8503Ter) rs1206080778
NM_001164508.2(NEB):c.25509G>A (p.Trp8503Ter)
NM_001164508.2(NEB):c.25515T>C (p.Tyr8505=)
NM_001164508.2(NEB):c.25519A>G (p.Thr8507Ala)
NM_001164508.2(NEB):c.25522G>A (p.Val8508Met)
NM_001164508.2(NEB):c.25527G>A (p.Gln8509=)
NM_001164508.2(NEB):c.25534G>A (p.Gly8512Ser) rs751394716
NM_001164508.2(NEB):c.25534G>C (p.Gly8512Arg)
NM_001164508.2(NEB):c.25534_25535insTATGCACTGTGCAGAGGACTG (p.Thr8511_Gly8512insValCysThrValGlnArgThr) rs1211056097
NM_001164508.2(NEB):c.25535G>A (p.Gly8512Asp) rs2152614968
NM_001164508.2(NEB):c.25536C>T (p.Gly8512=)
NM_001164508.2(NEB):c.25540A>G (p.Thr8514Ala)
NM_001164508.2(NEB):c.25542C>G (p.Thr8514=) rs3821324
NM_001164508.2(NEB):c.25543G>T (p.Gly8515Ter) rs776932788
NM_001164508.2(NEB):c.25544del (p.Gly8515fs) rs1205824305
NM_001164508.2(NEB):c.25551C>T (p.Leu8517=)
NM_001164508.2(NEB):c.25564G>T (p.Val8522Phe) rs117861109
NM_001164508.2(NEB):c.25565T>C (p.Val8522Ala)
NM_001164508.2(NEB):c.25573A>G (p.Ile8525Val) rs2049766133
NM_001271208.1(NEB):c.23940+17_23940+21del rs768100915
NM_001271208.2(NEB):c.22378del
NM_004543.5(NEB):c.18826-1350_18826-1348dup rs1553552449

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