ClinVar Miner

List of variants studied for Baraitser-Winter cerebrofrontofacial syndrome by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 644
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405 0.75861
NM_001101.5(ACTB):c.364-16T>C rs852423 0.51966
NM_001614.5(ACTG1):c.363+13C>A rs9910792 0.43644
NM_001614.5(ACTG1):c.930C>T (p.Ala310=) rs1135989 0.30776
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) rs1139406 0.04214
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=) rs1139807 0.04188
NM_001614.5(ACTG1):c.1128A>G (p.Ter376=) rs11549223 0.04188
NM_001101.5(ACTB):c.942G>A (p.Gln314=) rs11546939 0.03418
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_001614.5(ACTG1):c.177G>A (p.Gln59=) rs11549220 0.01161
NM_001101.5(ACTB):c.1023C>T (p.Ile341=) rs58704474 0.01128
NM_001101.5(ACTB):c.363+16C>T rs73332405 0.01128
NM_001614.5(ACTG1):c.124-14G>A rs115307446 0.01103
NM_001101.5(ACTB):c.426G>T (p.Leu142=) rs79074016 0.00353
NM_001101.5(ACTB):c.951C>T (p.Ile317=) rs13447408 0.00323
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173 0.00287
NM_001614.5(ACTG1):c.780G>A (p.Ala260=) rs140846345 0.00287
NM_001101.5(ACTB):c.985-6C>T rs182943508 0.00269
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222 0.00264
NM_001614.5(ACTG1):c.684C>T (p.Ala228=) rs143125497 0.00195
NM_001614.5(ACTG1):c.985-5T>C rs370546734 0.00176
NM_001614.5(ACTG1):c.803-6C>T rs199600452 0.00164
NM_001101.5(ACTB):c.168C>T (p.Asp56=) rs13447398 0.00150
NM_001101.5(ACTB):c.420A>G (p.Leu140=) rs13447405 0.00145
NM_001614.5(ACTG1):c.18C>T (p.Ala6=) rs145211830 0.00128
NM_001614.5(ACTG1):c.72C>T (p.Asp24=) rs139517777 0.00107
NM_001614.5(ACTG1):c.1029C>T (p.Gly343=) rs143659814 0.00106
NM_001614.5(ACTG1):c.531T>C (p.Arg177=) rs143851458 0.00106
NM_001614.5(ACTG1):c.39C>T (p.Gly13=) rs146865914 0.00087
NM_001101.5(ACTB):c.687G>A (p.Thr229=) rs138499594 0.00083
NM_001101.5(ACTB):c.762G>C (p.Arg254=) rs145818896 0.00080
NM_001614.5(ACTG1):c.877C>T (p.Leu293=) rs143205514 0.00078
NM_001101.5(ACTB):c.1107C>T (p.Ile369=) rs71531321 0.00065
NM_001614.5(ACTG1):c.363+5G>A rs116329164 0.00061
NM_001614.5(ACTG1):c.228C>T (p.Val76=) rs143028649 0.00055
NM_001614.5(ACTG1):c.1017G>C (p.Val339=) rs111305526 0.00053
NM_001614.5(ACTG1):c.774G>A (p.Pro258=) rs61997068 0.00053
NM_001614.5(ACTG1):c.105C>T (p.Val35=) rs11549193 0.00048
NM_001614.5(ACTG1):c.66T>G (p.Ala22=) rs149682185 0.00045
NM_001101.5(ACTB):c.984+15T>C rs372551192 0.00039
NM_001614.5(ACTG1):c.1107C>T (p.Ile369=) rs372665803 0.00035
NM_001614.5(ACTG1):c.180C>T (p.Ser60=) rs144338558 0.00031
NM_001614.5(ACTG1):c.364-8C>T rs201748657 0.00031
NM_001101.5(ACTB):c.822C>A (p.Ile274=) rs377390140 0.00029
NM_001614.5(ACTG1):c.126C>T (p.Gly42=) rs11549197 0.00029
NM_001614.5(ACTG1):c.1113C>T (p.His371=) rs117765323 0.00028
NM_001101.5(ACTB):c.645G>A (p.Lys215=) rs145017784 0.00026
NM_001101.5(ACTB):c.124-7T>A rs199651295 0.00024
NM_001614.5(ACTG1):c.654C>T (p.Tyr218=) rs182162229 0.00024
NM_001614.5(ACTG1):c.546C>T (p.Gly182=) rs61997063 0.00023
NM_001614.5(ACTG1):c.210C>T (p.Pro70=) rs201275526 0.00021
NM_001614.5(ACTG1):c.345C>T (p.Asn115=) rs149057480 0.00021
NM_001101.5(ACTB):c.1044G>A (p.Ser348=) rs13447409 0.00019
NM_001614.5(ACTG1):c.159C>T (p.Tyr53=) rs139751304 0.00019
NM_001614.5(ACTG1):c.803-3T>C rs369438865 0.00019
NM_001101.5(ACTB):c.124-4C>T rs13447397 0.00018
NM_001101.5(ACTB):c.364-4A>G rs763065691 0.00018
NM_001614.5(ACTG1):c.825C>T (p.His275=) rs145303691 0.00017
NM_001614.5(ACTG1):c.870C>T (p.Arg290=) rs565983582 0.00017
NM_001101.5(ACTB):c.1089C>T (p.Asp363=) rs370848417 0.00016
NM_001101.5(ACTB):c.315G>C (p.Leu105=) rs139795454 0.00016
NM_001614.5(ACTG1):c.978G>A (p.Lys326=) rs139339869 0.00016
NM_001101.5(ACTB):c.124-16G>A rs13447396 0.00015
NM_001614.5(ACTG1):c.201G>C (p.Leu67=) rs782754511 0.00014
NM_001101.5(ACTB):c.453C>T (p.Ile151=) rs150837984 0.00012
NM_001614.5(ACTG1):c.561C>T (p.Asp187=) rs782649322 0.00011
NM_001614.5(ACTG1):c.687C>T (p.Thr229=) rs201036516 0.00011
NM_001614.5(ACTG1):c.984+7C>T rs369691985 0.00011
NM_001101.5(ACTB):c.1011C>T (p.Tyr337=) rs748194756 0.00009
NM_001101.5(ACTB):c.192C>T (p.Ile64=) rs745456857 0.00009
NM_001101.5(ACTB):c.280C>T (p.Leu94=) rs145281194 0.00009
NM_001101.5(ACTB):c.624C>T (p.Ile208=) rs144865943 0.00009
NM_001101.5(ACTB):c.984+16G>C rs767166581 0.00009
NM_001614.5(ACTG1):c.1086C>T (p.Tyr362=) rs144114953 0.00009
NM_001614.5(ACTG1):c.124-17C>T rs374327916 0.00009
NM_001614.5(ACTG1):c.231C>T (p.Thr77=) rs375450454 0.00009
NM_001614.5(ACTG1):c.364-9C>T rs375907911 0.00009
NM_001614.5(ACTG1):c.45C>T (p.Gly15=) rs145574149 0.00009
NM_001614.5(ACTG1):c.564C>T (p.Tyr188=) rs141964376 0.00009
NM_001614.5(ACTG1):c.612C>T (p.Ala204=) rs368022367 0.00009
NM_001614.5(ACTG1):c.858C>T (p.Asp286=) rs201277295 0.00009
NM_001614.5(ACTG1):c.954C>T (p.Thr318=) rs3211110 0.00009
NM_001614.5(ACTG1):c.364-20C>T rs138210010 0.00008
NM_001614.5(ACTG1):c.486G>A (p.Thr162=) rs782442814 0.00008
NM_001614.5(ACTG1):c.669C>T (p.Phe223=) rs373099591 0.00008
NM_001614.5(ACTG1):c.816C>T (p.Cys272=) rs376841359 0.00008
NM_001614.5(ACTG1):c.168C>T (p.Asp56=) rs368299537 0.00007
NM_001614.5(ACTG1):c.364-10C>T rs200552253 0.00007
NM_001614.5(ACTG1):c.981C>A (p.Ile327=) rs782329552 0.00007
NM_001101.5(ACTB):c.582C>T (p.Thr194=) rs552927665 0.00006
NM_001101.5(ACTB):c.825C>T (p.His275=) rs373362107 0.00006
NM_001614.5(ACTG1):c.124-9C>T rs376850595 0.00006
NM_001614.5(ACTG1):c.165C>T (p.Gly55=) rs146402466 0.00006
NM_001614.5(ACTG1):c.22C>T (p.Leu8=) rs782795413 0.00006
NM_001614.5(ACTG1):c.318C>T (p.Thr106=) rs372370199 0.00006
NM_001614.5(ACTG1):c.351G>A (p.Glu117=) rs200772616 0.00006
NM_001614.5(ACTG1):c.363+7C>G rs782205549 0.00006
NM_001614.5(ACTG1):c.609G>A (p.Thr203=) rs148528303 0.00006
NM_001614.5(ACTG1):c.624C>T (p.Ile208=) rs370369574 0.00006
NM_001614.5(ACTG1):c.690C>T (p.Ala230=) rs11549213 0.00006
NM_001614.5(ACTG1):c.903C>T (p.Gly301=) rs201963572 0.00006
NM_001101.5(ACTB):c.93C>T (p.Phe31=) rs748892906 0.00005
NM_001614.5(ACTG1):c.222C>T (p.Gly74=) rs368844224 0.00005
NM_001614.5(ACTG1):c.735C>T (p.Gly245=) rs186289501 0.00005
NM_001614.5(ACTG1):c.795C>T (p.Ser265=) rs146493032 0.00005
NM_001614.5(ACTG1):c.802+8T>G rs373268725 0.00005
NM_001101.5(ACTB):c.1017G>C (p.Val339=) rs201416978 0.00004
NM_001101.5(ACTB):c.180C>T (p.Ser60=) rs147566416 0.00004
NM_001101.5(ACTB):c.363+20T>G rs761362868 0.00004
NM_001101.5(ACTB):c.36C>T (p.Asn12=) rs764325153 0.00004
NM_001101.5(ACTB):c.732C>T (p.Asp244=) rs552269338 0.00004
NM_001101.5(ACTB):c.930C>T (p.Ala310=) rs34792388 0.00004
NM_001614.5(ACTG1):c.255C>T (p.Ile85=) rs147001458 0.00004
NM_001614.5(ACTG1):c.363+9C>T rs200000684 0.00004
NM_001614.5(ACTG1):c.393C>T (p.Ala131=) rs11150794 0.00004
NM_001614.5(ACTG1):c.510C>T (p.Ala170=) rs558086995 0.00004
NM_001614.5(ACTG1):c.618G>A (p.Arg206=) rs375061969 0.00004
NM_001614.5(ACTG1):c.666C>T (p.Asp222=) rs376839455 0.00004
NM_001614.5(ACTG1):c.803-13C>T rs376658586 0.00004
NM_001614.5(ACTG1):c.81C>T (p.Pro27=) rs11549230 0.00004
NM_001101.5(ACTB):c.1014C>T (p.Ser338=) rs1064790 0.00003
NM_001101.5(ACTB):c.198C>T (p.Thr66=) rs750565033 0.00003
NM_001101.5(ACTB):c.24C>G (p.Leu8=) rs151181948 0.00003
NM_001101.5(ACTB):c.267C>T (p.Thr89=) rs760279394 0.00003
NM_001101.5(ACTB):c.30C>G (p.Val10=) rs768066226 0.00003
NM_001101.5(ACTB):c.324C>T (p.Ala108=) rs746032511 0.00003
NM_001101.5(ACTB):c.363+15A>C rs772907450 0.00003
NM_001101.5(ACTB):c.429C>T (p.Tyr143=) rs375215955 0.00003
NM_001101.5(ACTB):c.579C>A (p.Leu193=) rs759523049 0.00003
NM_001101.5(ACTB):c.669C>T (p.Phe223=) rs369943480 0.00003
NM_001101.5(ACTB):c.720C>T (p.Tyr240=) rs145793213 0.00003
NM_001101.5(ACTB):c.756T>C (p.Asn252=) rs774251900 0.00003
NM_001101.5(ACTB):c.802+20C>T rs372973178 0.00003
NM_001101.5(ACTB):c.858C>T (p.Asp286=) rs150105166 0.00003
NM_001101.5(ACTB):c.96C>T (p.Pro32=) rs755754152 0.00003
NM_001614.5(ACTG1):c.1053C>T (p.Thr351=) rs148267855 0.00003
NM_001614.5(ACTG1):c.1095G>A (p.Ser365=) rs201121917 0.00003
NM_001614.5(ACTG1):c.1122C>T (p.Cys374=) rs369020026 0.00003
NM_001614.5(ACTG1):c.498C>T (p.Tyr166=) rs373572370 0.00003
NM_001614.5(ACTG1):c.534G>A (p.Leu178=) rs140035543 0.00003
NM_001614.5(ACTG1):c.657C>T (p.Val219=) rs782248094 0.00003
NM_001614.5(ACTG1):c.693A>G (p.Ala231=) rs534061526 0.00003
NM_001614.5(ACTG1):c.696C>T (p.Ser232=) rs202155328 0.00003
NM_001614.5(ACTG1):c.720C>T (p.Tyr240=) rs376038784 0.00003
NM_001614.5(ACTG1):c.802+20G>A rs782239781 0.00003
NM_001614.5(ACTG1):c.803-4C>T rs782608976 0.00003
NM_001614.5(ACTG1):c.909C>T (p.Thr303=) rs187127467 0.00003
NM_001614.5(ACTG1):c.921G>A (p.Pro307=) rs782215635 0.00003
NM_001614.5(ACTG1):c.985-20G>A rs376114200 0.00003
NM_001101.5(ACTB):c.1026C>T (p.Gly342=) rs780969261 0.00002
NM_001101.5(ACTB):c.1041C>T (p.Ala347=) rs190642491 0.00002
NM_001101.5(ACTB):c.111C>T (p.Arg37=) rs757736707 0.00002
NM_001101.5(ACTB):c.124-13C>T rs755158952 0.00002
NM_001101.5(ACTB):c.124-3C>T rs1189379541 0.00002
NM_001101.5(ACTB):c.124-5C>T rs769576985 0.00002
NM_001101.5(ACTB):c.312G>A (p.Leu104=) rs749687095 0.00002
NM_001101.5(ACTB):c.364-13C>T rs750756712 0.00002
NM_001101.5(ACTB):c.364-9G>C rs371859807 0.00002
NM_001101.5(ACTB):c.465C>T (p.Ser155=) rs760547214 0.00002
NM_001101.5(ACTB):c.654C>T (p.Tyr218=) rs781745429 0.00002
NM_001101.5(ACTB):c.657C>T (p.Val219=) rs143046775 0.00002
NM_001101.5(ACTB):c.738G>A (p.Gln246=) rs148969043 0.00002
NM_001101.5(ACTB):c.864C>T (p.Asp288=) rs766044090 0.00002
NM_001101.5(ACTB):c.984G>A (p.Lys328=) rs754862802 0.00002
NM_001614.5(ACTG1):c.1110C>A (p.Val370=) rs727502879 0.00002
NM_001614.5(ACTG1):c.124-16G>A rs782370155 0.00002
NM_001614.5(ACTG1):c.363+20C>G rs782132566 0.00002
NM_001614.5(ACTG1):c.429C>T (p.Tyr143=) rs782719226 0.00002
NM_001614.5(ACTG1):c.51C>T (p.Cys17=) rs201570725 0.00002
NM_001614.5(ACTG1):c.861G>A (p.Val287=) rs558300445 0.00002
NM_001614.5(ACTG1):c.945G>A (p.Lys315=) rs727502881 0.00002
NM_001101.5(ACTB):c.1095C>T (p.Ser365=) rs760936273 0.00001
NM_001101.5(ACTB):c.123+18G>A rs551932499 0.00001
NM_001101.5(ACTB):c.123+3A>G rs878963559 0.00001
NM_001101.5(ACTB):c.124-9C>T rs377520149 0.00001
NM_001101.5(ACTB):c.150G>A (p.Lys50=) rs1784833012 0.00001
NM_001101.5(ACTB):c.210C>T (p.Pro70=) rs758427319 0.00001
NM_001101.5(ACTB):c.228C>A (p.Val76=) rs1562719788 0.00001
NM_001101.5(ACTB):c.255C>T (p.Ile85=) rs371726724 0.00001
NM_001101.5(ACTB):c.264C>T (p.His88=) rs574137728 0.00001
NM_001101.5(ACTB):c.270C>T (p.Phe90=) rs1446932164 0.00001
NM_001101.5(ACTB):c.364-8C>T rs751843940 0.00001
NM_001101.5(ACTB):c.378C>T (p.Thr126=) rs1197579915 0.00001
NM_001101.5(ACTB):c.474G>A (p.Gly158=) rs141472083 0.00001
NM_001101.5(ACTB):c.478A>G (p.Thr160Ala) rs1784814961 0.00001
NM_001101.5(ACTB):c.492C>T (p.Pro164=) rs1784814781 0.00001
NM_001101.5(ACTB):c.526C>T (p.Leu176=) rs781543876 0.00001
NM_001101.5(ACTB):c.588C>T (p.Arg196=) rs1184848861 0.00001
NM_001101.5(ACTB):c.63C>T (p.Phe21=) rs370972197 0.00001
NM_001101.5(ACTB):c.642G>A (p.Glu214=) rs769411154 0.00001
NM_001101.5(ACTB):c.663G>A (p.Leu221=) rs1187201047 0.00001
NM_001101.5(ACTB):c.702C>T (p.Ser234=) rs570862769 0.00001
NM_001101.5(ACTB):c.780A>T (p.Ala260=) rs1024438680 0.00001
NM_001101.5(ACTB):c.803-14C>T rs1284346916 0.00001
NM_001101.5(ACTB):c.803-18C>T rs370628413 0.00001
NM_001101.5(ACTB):c.804C>T (p.Gly268=) rs770089307 0.00001
NM_001101.5(ACTB):c.882C>T (p.Tyr294=) rs774758801 0.00001
NM_001101.5(ACTB):c.94C>T (p.Pro32Ser) rs779839358 0.00001
NM_001101.5(ACTB):c.985-10C>T rs367881583 0.00001
NM_001101.5(ACTB):c.985-9C>T rs138910287 0.00001
NM_001614.5(ACTG1):c.1008G>A (p.Lys336=) rs1555666390 0.00001
NM_001614.5(ACTG1):c.1101C>T (p.Pro367=) rs782349660 0.00001
NM_001614.5(ACTG1):c.123+8G>A rs536476533 0.00001
NM_001614.5(ACTG1):c.124-3C>T rs143798951 0.00001
NM_001614.5(ACTG1):c.138C>T (p.Gly46=) rs374907377 0.00001
NM_001614.5(ACTG1):c.208C>T (p.Pro70Ser) rs1568062708 0.00001
NM_001614.5(ACTG1):c.285C>T (p.Arg95=) rs782236244 0.00001
NM_001614.5(ACTG1):c.310C>T (p.Leu104=) rs782549602 0.00001
NM_001614.5(ACTG1):c.364-13T>C rs1555666841 0.00001
NM_001614.5(ACTG1):c.378C>T (p.Thr126=) rs11549201 0.00001
NM_001614.5(ACTG1):c.390G>A (p.Pro130=) rs561518636 0.00001
NM_001614.5(ACTG1):c.417G>C (p.Val139=) rs1367861495 0.00001
NM_001614.5(ACTG1):c.447T>C (p.Thr149=) rs1555666796 0.00001
NM_001614.5(ACTG1):c.519C>T (p.His173=) rs781859294 0.00001
NM_001614.5(ACTG1):c.642G>A (p.Glu214=) rs782187026 0.00001
NM_001614.5(ACTG1):c.802+10G>A rs1555666580 0.00001
NM_001614.5(ACTG1):c.803-5C>T rs551818809 0.00001
NM_001614.5(ACTG1):c.828G>A (p.Glu276=) rs727504806 0.00001
NM_001614.5(ACTG1):c.888C>T (p.Asn296=) rs782140372 0.00001
NM_001614.5(ACTG1):c.936G>A (p.Arg312=) rs1555666472 0.00001
NC_000007.13:g.(?_5567379)_(5568370_?)dup
NC_000007.13:g.(?_5567379)_(5569051_?)dup
NC_000007.13:g.(?_5567379)_(5569288_?)dup
NC_000007.13:g.(?_5567615)_(5569051_?)dup
NM_001101.5(ACTB):c.1004G>C (p.Arg335Pro) rs1784799009
NM_001101.5(ACTB):c.102C>T (p.Ile34=)
NM_001101.5(ACTB):c.1047G>A (p.Leu349=)
NM_001101.5(ACTB):c.1053C>T (p.Thr351=) rs1784797975
NM_001101.5(ACTB):c.1056C>T (p.Phe352=)
NM_001101.5(ACTB):c.1059G>A (p.Gln353=) rs2128241176
NM_001101.5(ACTB):c.1074C>T (p.Ser358=)
NM_001101.5(ACTB):c.1078dup (p.Gln360fs) rs1562718649
NM_001101.5(ACTB):c.1094C>G (p.Ser365Cys)
NM_001101.5(ACTB):c.1101C>G (p.Pro367=)
NM_001101.5(ACTB):c.1109T>G (p.Val370Gly)
NM_001101.5(ACTB):c.1115G>A (p.Arg372His)
NM_001101.5(ACTB):c.1122C>T (p.Cys374=) rs2128241151
NM_001101.5(ACTB):c.113C>T (p.Pro38Leu) rs1554329646
NM_001101.5(ACTB):c.120C>G (p.His40Gln)
NM_001101.5(ACTB):c.123+10C>T
NM_001101.5(ACTB):c.123+17G>A
NM_001101.5(ACTB):c.123+17G>T
NM_001101.5(ACTB):c.123+3A>C
NM_001101.5(ACTB):c.123+4G>A
NM_001101.5(ACTB):c.124-10T>C
NM_001101.5(ACTB):c.124-11T>G rs754033291
NM_001101.5(ACTB):c.124-14C>G rs565900219
NM_001101.5(ACTB):c.124-14C>T
NM_001101.5(ACTB):c.124-18T>C
NM_001101.5(ACTB):c.124-19_124-17del rs768341964
NM_001101.5(ACTB):c.124-20T>G
NM_001101.5(ACTB):c.124-6T>G
NM_001101.5(ACTB):c.124-8C>T
NM_001101.5(ACTB):c.124-9C>G
NM_001101.5(ACTB):c.125G>C (p.Gly42Ala)
NM_001101.5(ACTB):c.12T>C (p.Asp4=)
NM_001101.5(ACTB):c.135G>T (p.Val45=)
NM_001101.5(ACTB):c.136G>C (p.Gly46Arg)
NM_001101.5(ACTB):c.138C>T (p.Gly46=)
NM_001101.5(ACTB):c.143G>A (p.Gly48Asp) rs886041268
NM_001101.5(ACTB):c.156C>G (p.Ser52=)
NM_001101.5(ACTB):c.156C>T (p.Ser52=)
NM_001101.5(ACTB):c.15C>T (p.Ile5=)
NM_001101.5(ACTB):c.177G>A (p.Gln59=)
NM_001101.5(ACTB):c.195C>T (p.Leu65=) rs1431725288
NM_001101.5(ACTB):c.199C>T (p.Leu67=)
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr) rs1562720119
NM_001101.5(ACTB):c.213C>T (p.Ile71=)
NM_001101.5(ACTB):c.219C>T (p.His73=) rs1166509821
NM_001101.5(ACTB):c.220G>A (p.Gly74Ser) rs587779770
NM_001101.5(ACTB):c.228C>T (p.Val76=) rs1562719788
NM_001101.5(ACTB):c.22C>G (p.Leu8Val)
NM_001101.5(ACTB):c.231C>A (p.Thr77=) rs2128241400
NM_001101.5(ACTB):c.231C>T (p.Thr77=)
NM_001101.5(ACTB):c.240C>G (p.Asp80Glu) rs2128241399
NM_001101.5(ACTB):c.249G>C (p.Glu83Asp)
NM_001101.5(ACTB):c.24C>A (p.Leu8=)
NM_001101.5(ACTB):c.24C>T (p.Leu8=)
NM_001101.5(ACTB):c.265A>G (p.Thr89Ala)
NM_001101.5(ACTB):c.276T>C (p.Asn92=)
NM_001101.5(ACTB):c.27C>A (p.Val9=) rs1240714871
NM_001101.5(ACTB):c.27C>G (p.Val9=)
NM_001101.5(ACTB):c.27C>T (p.Val9=)
NM_001101.5(ACTB):c.286G>T (p.Val96Leu) rs2128241393
NM_001101.5(ACTB):c.294C>T (p.Pro98=)
NM_001101.5(ACTB):c.297G>A (p.Glu99=)
NM_001101.5(ACTB):c.2T>G (p.Met1Arg)
NM_001101.5(ACTB):c.307G>C (p.Val103Leu) rs587779772
NM_001101.5(ACTB):c.30C>T (p.Val10=)
NM_001101.5(ACTB):c.310C>T (p.Leu104=)
NM_001101.5(ACTB):c.313C>T (p.Leu105=)
NM_001101.5(ACTB):c.318C>G (p.Thr106=)
NM_001101.5(ACTB):c.318C>T (p.Thr106=) rs201751687
NM_001101.5(ACTB):c.321G>A (p.Glu107=) rs2128241391
NM_001101.5(ACTB):c.323C>A (p.Ala108Asp) rs1411316425
NM_001101.5(ACTB):c.327C>T (p.Pro109=)
NM_001101.5(ACTB):c.351G>A (p.Glu117=)
NM_001101.5(ACTB):c.363+15A>G rs772907450
NM_001101.5(ACTB):c.363+17C>T
NM_001101.5(ACTB):c.363+8G>T
NM_001101.5(ACTB):c.364-11C>G
NM_001101.5(ACTB):c.364-16_364-15delinsCG
NM_001101.5(ACTB):c.364-17_364-16delinsTC
NM_001101.5(ACTB):c.364-3C>T
NM_001101.5(ACTB):c.364-4_364-3insAA rs751359436
NM_001101.5(ACTB):c.364-5T>G
NM_001101.5(ACTB):c.364-7C>A
NM_001101.5(ACTB):c.364-7C>G rs764266143
NM_001101.5(ACTB):c.364-7C>T rs764266143
NM_001101.5(ACTB):c.366C>A (p.Ile122=) rs1584262227
NM_001101.5(ACTB):c.366C>T (p.Ile122=)
NM_001101.5(ACTB):c.369G>A (p.Met123Ile)
NM_001101.5(ACTB):c.383A>C (p.Asn128Thr)
NM_001101.5(ACTB):c.386C>T (p.Thr129Ile)
NM_001101.5(ACTB):c.387C>T (p.Thr129=)
NM_001101.5(ACTB):c.393C>T (p.Ala131=)
NM_001101.5(ACTB):c.399C>T (p.Tyr133=)
NM_001101.5(ACTB):c.400G>A (p.Val134Ile)
NM_001101.5(ACTB):c.414T>C (p.Ala138=)
NM_001101.5(ACTB):c.423C>T (p.Ser141=)
NM_001101.5(ACTB):c.42C>G (p.Ser14=)
NM_001101.5(ACTB):c.432C>T (p.Ala144=) rs1254718824
NM_001101.5(ACTB):c.440G>A (p.Arg147His)
NM_001101.5(ACTB):c.44G>C (p.Gly15Ala) rs865913177
NM_001101.5(ACTB):c.454G>A (p.Val152Met) rs2128241296
NM_001101.5(ACTB):c.45C>T (p.Gly15=)
NM_001101.5(ACTB):c.471C>T (p.Asp157=)
NM_001101.5(ACTB):c.490C>T (p.Pro164Ser) rs1784814856
NM_001101.5(ACTB):c.495C>T (p.Ile165=)
NM_001101.5(ACTB):c.498C>T (p.Tyr166=)
NM_001101.5(ACTB):c.510C>T (p.Ala170=)
NM_001101.5(ACTB):c.511C>T (p.Leu171Phe)
NM_001101.5(ACTB):c.511_522del (p.Leu171_Ala174del)
NM_001101.5(ACTB):c.515C>G (p.Pro172Arg)
NM_001101.5(ACTB):c.516C>G (p.Pro172=) rs756590817
NM_001101.5(ACTB):c.516C>T (p.Pro172=)
NM_001101.5(ACTB):c.522C>T (p.Ala174=)
NM_001101.5(ACTB):c.525C>T (p.Ile175=)
NM_001101.5(ACTB):c.537C>G (p.Asp179Glu) rs797044950
NM_001101.5(ACTB):c.537C>T (p.Asp179=) rs797044950
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001101.5(ACTB):c.548G>A (p.Arg183Gln) rs11546934
NM_001101.5(ACTB):c.54G>A (p.Lys18=)
NM_001101.5(ACTB):c.551A>C (p.Asp184Ala) rs2128241278
NM_001101.5(ACTB):c.555G>C (p.Leu185=)
NM_001101.5(ACTB):c.561C>T (p.Asp187=)
NM_001101.5(ACTB):c.57C>T (p.Ala19=)
NM_001101.5(ACTB):c.582C>G (p.Thr194=)
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys) rs281875333
NM_001101.5(ACTB):c.587G>A (p.Arg196His) rs281875334
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser) rs1554329317
NM_001101.5(ACTB):c.601A>G (p.Thr201Ala)
NM_001101.5(ACTB):c.609G>A (p.Thr203=) rs148292298
NM_001101.5(ACTB):c.609G>C (p.Thr203=) rs148292298
NM_001101.5(ACTB):c.60C>T (p.Gly20=)
NM_001101.5(ACTB):c.616C>T (p.Arg206Trp) rs1057518071
NM_001101.5(ACTB):c.616dup (p.Arg206fs) rs1784812557
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001101.5(ACTB):c.621A>G (p.Glu207=) rs1784812389
NM_001101.5(ACTB):c.660C>T (p.Ala220=)
NM_001101.5(ACTB):c.661C>T (p.Leu221=)
NM_001101.5(ACTB):c.666_671del (p.Asp222_Phe223del)
NM_001101.5(ACTB):c.674_683del (p.Gln225fs)
NM_001101.5(ACTB):c.685A>G (p.Thr229Ala)
NM_001101.5(ACTB):c.686C>T (p.Thr229Met) rs1464535596
NM_001101.5(ACTB):c.687G>T (p.Thr229=) rs138499594
NM_001101.5(ACTB):c.699C>T (p.Ser233=)
NM_001101.5(ACTB):c.69C>T (p.Gly23=)
NM_001101.5(ACTB):c.706C>T (p.Leu236=)
NM_001101.5(ACTB):c.724C>T (p.Leu242=)
NM_001101.5(ACTB):c.72C>T (p.Asp24=)
NM_001101.5(ACTB):c.733G>A (p.Gly245Ser) rs1784809823
NM_001101.5(ACTB):c.739G>A (p.Val247Ile) rs1784809671
NM_001101.5(ACTB):c.753C>T (p.Gly251=)
NM_001101.5(ACTB):c.772C>G (p.Pro258Ala)
NM_001101.5(ACTB):c.783C>A (p.Leu261=) rs1057523531
NM_001101.5(ACTB):c.786C>T (p.Phe262=) rs2128241261
NM_001101.5(ACTB):c.787del (p.Gln263fs)
NM_001101.5(ACTB):c.78C>T (p.Ala26=) rs1172866708
NM_001101.5(ACTB):c.798C>T (p.Phe266=)
NM_001101.5(ACTB):c.799C>T (p.Leu267=)
NM_001101.5(ACTB):c.7_8delinsTT (p.Asp3Phe) rs1784841235
NM_001101.5(ACTB):c.801G>T (p.Leu267=) rs2128241260
NM_001101.5(ACTB):c.802+10G>A
NM_001101.5(ACTB):c.802+10G>C
NM_001101.5(ACTB):c.802+12C>T
NM_001101.5(ACTB):c.802+13_802+19dup
NM_001101.5(ACTB):c.802+15_802+22del rs1411297835
NM_001101.5(ACTB):c.802+17dup
NM_001101.5(ACTB):c.802+18C>A
NM_001101.5(ACTB):c.802+18C>T
NM_001101.5(ACTB):c.802+6dup
NM_001101.5(ACTB):c.803-13A>G
NM_001101.5(ACTB):c.803-16C>T
NM_001101.5(ACTB):c.803-17C>T
NM_001101.5(ACTB):c.803-20T>A
NM_001101.5(ACTB):c.803-6T>G
NM_001101.5(ACTB):c.803-7C>G
NM_001101.5(ACTB):c.803-7C>T rs780471227
NM_001101.5(ACTB):c.803-9C>G
NM_001101.5(ACTB):c.803-9C>T rs367990633
NM_001101.5(ACTB):c.813C>G (p.Ser271=)
NM_001101.5(ACTB):c.813C>T (p.Ser271=)
NM_001101.5(ACTB):c.819C>T (p.Gly273=)
NM_001101.5(ACTB):c.81C>A (p.Pro27=)
NM_001101.5(ACTB):c.822C>T (p.Ile274=) rs377390140
NM_001101.5(ACTB):c.828A>C (p.Glu276Asp) rs2128241241
NM_001101.5(ACTB):c.834C>A (p.Thr278=) rs754810018
NM_001101.5(ACTB):c.834C>G (p.Thr278=) rs754810018
NM_001101.5(ACTB):c.873A>G (p.Lys291=)
NM_001101.5(ACTB):c.876C>A (p.Asp292Glu)
NM_001101.5(ACTB):c.877C>T (p.Leu293=)
NM_001101.5(ACTB):c.885C>T (p.Ala295=)
NM_001101.5(ACTB):c.886A>G (p.Asn296Asp)
NM_001101.5(ACTB):c.890C>T (p.Thr297Ile)
NM_001101.5(ACTB):c.891A>G (p.Thr297=)
NM_001101.5(ACTB):c.900T>G (p.Ser300=)
NM_001101.5(ACTB):c.903C>A (p.Gly301=)
NM_001101.5(ACTB):c.903C>T (p.Gly301=) rs13447407
NM_001101.5(ACTB):c.90C>T (p.Val30=)
NM_001101.5(ACTB):c.924C>T (p.Gly308=) rs1584261529
NM_001101.5(ACTB):c.925A>T (p.Ile309Phe)
NM_001101.5(ACTB):c.943_945del (p.Lys315del) rs1584261482
NM_001101.5(ACTB):c.948G>A (p.Glu316=)
NM_001101.5(ACTB):c.955G>A (p.Ala319Thr)
NM_001101.5(ACTB):c.955G>T (p.Ala319Ser)
NM_001101.5(ACTB):c.966C>T (p.Pro322=)
NM_001101.5(ACTB):c.984+10T>A
NM_001101.5(ACTB):c.984+10T>C
NM_001101.5(ACTB):c.984+12dup rs766398197
NM_001101.5(ACTB):c.984+19T>A
NM_001101.5(ACTB):c.984+9C>T
NM_001101.5(ACTB):c.985-13C>T
NM_001101.5(ACTB):c.985-15C>T
NM_001101.5(ACTB):c.985-16C>T
NM_001101.5(ACTB):c.985-5_985-3del rs772626920
NM_001101.5(ACTB):c.985-7T>A rs1784799522
NM_001101.5(ACTB):c.985-8C>T
NM_001101.5(ACTB):c.996T>G (p.Pro332=)
NM_001614.5(ACTG1):c.1013C>G (p.Ser338Trp) rs1192977984
NM_001614.5(ACTG1):c.1017G>A (p.Val339=)
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) rs782217473
NM_001614.5(ACTG1):c.1036C>T (p.Leu346=)
NM_001614.5(ACTG1):c.1041C>G (p.Ala347=)
NM_001614.5(ACTG1):c.1044A>T (p.Ser348=)
NM_001614.5(ACTG1):c.1050C>T (p.Ser350=)
NM_001614.5(ACTG1):c.1053C>G (p.Thr351=) rs148267855
NM_001614.5(ACTG1):c.1056C>T (p.Phe352=) rs2031713483
NM_001614.5(ACTG1):c.1064T>G (p.Met355Arg)
NM_001614.5(ACTG1):c.1077G>A (p.Lys359=)
NM_001614.5(ACTG1):c.1089C>T (p.Asp363=)
NM_001614.5(ACTG1):c.1097G>A (p.Gly366Asp)
NM_001614.5(ACTG1):c.1098C>G (p.Gly366=)
NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe) rs1555666360
NM_001614.5(ACTG1):c.1104C>G (p.Ser368=)
NM_001614.5(ACTG1):c.1110C>T (p.Val370=) rs727502879
NM_001614.5(ACTG1):c.1121G>A (p.Cys374Tyr)
NM_001614.5(ACTG1):c.123+15C>T
NM_001614.5(ACTG1):c.123+18C>T
NM_001614.5(ACTG1):c.123+5G>C
NM_001614.5(ACTG1):c.123+7G>A
NM_001614.5(ACTG1):c.124-6C>T
NM_001614.5(ACTG1):c.124-6dup
NM_001614.5(ACTG1):c.124-8C>T rs201279208
NM_001614.5(ACTG1):c.124-9C>A
NM_001614.5(ACTG1):c.128T>C (p.Val43Ala) rs1555667138
NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn)
NM_001614.5(ACTG1):c.153C>T (p.Asp51=)
NM_001614.5(ACTG1):c.15C>A (p.Ile5=) rs199657153
NM_001614.5(ACTG1):c.15C>T (p.Ile5=) rs199657153
NM_001614.5(ACTG1):c.160G>A (p.Val54Met) rs2143784086
NM_001614.5(ACTG1):c.165C>G (p.Gly55=) rs146402466
NM_001614.5(ACTG1):c.174C>G (p.Ala58=) rs782205858
NM_001614.5(ACTG1):c.174C>T (p.Ala58=)
NM_001614.5(ACTG1):c.188G>C (p.Gly63Ala)
NM_001614.5(ACTG1):c.192C>A (p.Ile64=)
NM_001614.5(ACTG1):c.195G>A (p.Leu65=)
NM_001614.5(ACTG1):c.198C>T (p.Thr66=)
NM_001614.5(ACTG1):c.199C>T (p.Leu67=)
NM_001614.5(ACTG1):c.219T>C (p.His73=)
NM_001614.5(ACTG1):c.234C>T (p.Asn78=)
NM_001614.5(ACTG1):c.235T>C (p.Trp79Arg)
NM_001614.5(ACTG1):c.240C>T (p.Asp80=)
NM_001614.5(ACTG1):c.243C>T (p.Asp81=)
NM_001614.5(ACTG1):c.252G>A (p.Lys84=)
NM_001614.5(ACTG1):c.260A>T (p.His87Leu) rs2143783289
NM_001614.5(ACTG1):c.269T>C (p.Phe90Ser)
NM_001614.5(ACTG1):c.276C>T (p.Asn92=)
NM_001614.5(ACTG1):c.279G>A (p.Glu93=)
NM_001614.5(ACTG1):c.280C>G (p.Leu94Val) rs782388764
NM_001614.5(ACTG1):c.311T>A (p.Leu104Gln)
NM_001614.5(ACTG1):c.313C>T (p.Leu105=)
NM_001614.5(ACTG1):c.315G>A (p.Leu105=) rs202094234
NM_001614.5(ACTG1):c.318C>G (p.Thr106=) rs372370199
NM_001614.5(ACTG1):c.324C>G (p.Ala108=)
NM_001614.5(ACTG1):c.339G>A (p.Lys113=)
NM_001614.5(ACTG1):c.342C>T (p.Ala114=)
NM_001614.5(ACTG1):c.346dup (p.Arg116fs)
NM_001614.5(ACTG1):c.349_352del (p.Glu117fs) rs2143782665
NM_001614.5(ACTG1):c.363+10G>T
NM_001614.5(ACTG1):c.363+11G>C rs2031818208
NM_001614.5(ACTG1):c.363+16C>T
NM_001614.5(ACTG1):c.363+17G>A rs782044225
NM_001614.5(ACTG1):c.363+19C>T
NM_001614.5(ACTG1):c.363+20C>T rs782132566
NM_001614.5(ACTG1):c.363+7C>T
NM_001614.5(ACTG1):c.364-15C>G
NM_001614.5(ACTG1):c.364-15C>T
NM_001614.5(ACTG1):c.364-16C>T
NM_001614.5(ACTG1):c.364-17C>G
NM_001614.5(ACTG1):c.364-17C>T
NM_001614.5(ACTG1):c.364-19G>A
NM_001614.5(ACTG1):c.364-19G>C
NM_001614.5(ACTG1):c.364-19G>T rs374818782
NM_001614.5(ACTG1):c.364-3C>G
NM_001614.5(ACTG1):c.36T>C (p.Asn12=)
NM_001614.5(ACTG1):c.375G>A (p.Glu125=)
NM_001614.5(ACTG1):c.376A>G (p.Thr126Ala)
NM_001614.5(ACTG1):c.377C>T (p.Thr126Ile) rs876657740
NM_001614.5(ACTG1):c.378C>G (p.Thr126=)
NM_001614.5(ACTG1):c.387C>A (p.Thr129=) rs2143779666
NM_001614.5(ACTG1):c.389C>A (p.Pro130Gln) rs1555666823
NM_001614.5(ACTG1):c.395T>C (p.Met132Thr) rs1555666818
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) rs11549190
NM_001614.5(ACTG1):c.414C>A (p.Ala138=)
NM_001614.5(ACTG1):c.414C>G (p.Ala138=)
NM_001614.5(ACTG1):c.414C>T (p.Ala138=) rs143978597
NM_001614.5(ACTG1):c.420G>A (p.Leu140=)
NM_001614.5(ACTG1):c.423C>T (p.Ser141=)
NM_001614.5(ACTG1):c.426C>G (p.Leu142=) rs112043655
NM_001614.5(ACTG1):c.426C>T (p.Leu142=)
NM_001614.5(ACTG1):c.42C>T (p.Ser14=)
NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr) rs11549196
NM_001614.5(ACTG1):c.431C>T (p.Ala144Val)
NM_001614.5(ACTG1):c.432C>T (p.Ala144=) rs372748659
NM_001614.5(ACTG1):c.433T>G (p.Ser145Ala) rs2143779284
NM_001614.5(ACTG1):c.434C>G (p.Ser145Cys)
NM_001614.5(ACTG1):c.445A>G (p.Thr149Ala) rs781968214
NM_001614.5(ACTG1):c.450C>T (p.Gly150=)
NM_001614.5(ACTG1):c.456C>G (p.Val152=) rs11549208
NM_001614.5(ACTG1):c.457A>G (p.Met153Val) rs1555666789
NM_001614.5(ACTG1):c.458T>C (p.Met153Thr)
NM_001614.5(ACTG1):c.474G>T (p.Gly158=)
NM_001614.5(ACTG1):c.483C>T (p.His161=)
NM_001614.5(ACTG1):c.489G>C (p.Val163=)
NM_001614.5(ACTG1):c.507C>T (p.Tyr169=)
NM_001614.5(ACTG1):c.513C>A (p.Leu171=)
NM_001614.5(ACTG1):c.525C>A (p.Ile175=)
NM_001614.5(ACTG1):c.525C>G (p.Ile175Met) rs146667866
NM_001614.5(ACTG1):c.525C>T (p.Ile175=)
NM_001614.5(ACTG1):c.526C>T (p.Leu176=)
NM_001614.5(ACTG1):c.537C>T (p.Asp179=)
NM_001614.5(ACTG1):c.547C>T (p.Arg183Trp) rs1362994447
NM_001614.5(ACTG1):c.553C>T (p.Leu185=)
NM_001614.5(ACTG1):c.558C>A (p.Thr186=)
NM_001614.5(ACTG1):c.558C>G (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.567C>T (p.Leu189=)
NM_001614.5(ACTG1):c.576C>T (p.Ile192=) rs186443800
NM_001614.5(ACTG1):c.583G>A (p.Glu195Lys) rs2143778304
NM_001614.5(ACTG1):c.585G>A (p.Glu195=) rs1598548706
NM_001614.5(ACTG1):c.5A>T (p.Glu2Val)
NM_001614.5(ACTG1):c.600C>T (p.Phe200=)
NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp) rs1598548614
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln) rs1555666715
NM_001614.5(ACTG1):c.629G>A (p.Arg210His) rs1555666709
NM_001614.5(ACTG1):c.636C>T (p.Ile212=)
NM_001614.5(ACTG1):c.645G>A (p.Lys215=)
NM_001614.5(ACTG1):c.658G>A (p.Ala220Thr)
NM_001614.5(ACTG1):c.660C>T (p.Ala220=)
NM_001614.5(ACTG1):c.675G>A (p.Gln225=)
NM_001614.5(ACTG1):c.689C>A (p.Ala230Asp)
NM_001614.5(ACTG1):c.692C>T (p.Ala231Val)
NM_001614.5(ACTG1):c.693A>T (p.Ala231=)
NM_001614.5(ACTG1):c.698C>T (p.Ser233Phe)
NM_001614.5(ACTG1):c.701C>T (p.Ser234Phe) rs11549179
NM_001614.5(ACTG1):c.704_706del (p.Ser235del) rs782541695
NM_001614.5(ACTG1):c.706C>T (p.Leu236=)
NM_001614.5(ACTG1):c.714_716del (p.Lys238_Ser239delinsAsn)
NM_001614.5(ACTG1):c.724C>T (p.Leu242=)
NM_001614.5(ACTG1):c.737A>T (p.Gln246Leu) rs1568061110
NM_001614.5(ACTG1):c.747C>T (p.Thr249=)
NM_001614.5(ACTG1):c.753C>T (p.Gly251=)
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001614.5(ACTG1):c.771T>C (p.Cys257=)
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu) rs11549191
NM_001614.5(ACTG1):c.780G>C (p.Ala260=)
NM_001614.5(ACTG1):c.792T>C (p.Pro264=)
NM_001614.5(ACTG1):c.799C>T (p.Leu267=)
NM_001614.5(ACTG1):c.802+15C>T
NM_001614.5(ACTG1):c.803-11C>T
NM_001614.5(ACTG1):c.803-18del
NM_001614.5(ACTG1):c.803-20G>A rs374821448
NM_001614.5(ACTG1):c.803-20G>C rs374821448
NM_001614.5(ACTG1):c.803-4C>G
NM_001614.5(ACTG1):c.803-7C>T rs150136833
NM_001614.5(ACTG1):c.804T>C (p.Gly268=)
NM_001614.5(ACTG1):c.807G>A (p.Met269Ile) rs2143775969
NM_001614.5(ACTG1):c.813T>C (p.Ser271=)
NM_001614.5(ACTG1):c.817G>A (p.Gly273Ser)
NM_001614.5(ACTG1):c.819C>T (p.Gly273=)
NM_001614.5(ACTG1):c.823C>T (p.His275Tyr)
NM_001614.5(ACTG1):c.828G>C (p.Glu276Asp)
NM_001614.5(ACTG1):c.82C>T (p.Arg28Ter)
NM_001614.5(ACTG1):c.831C>T (p.Thr277=) rs1555666523
NM_001614.5(ACTG1):c.833C>T (p.Thr278Ile) rs28999112
NM_001614.5(ACTG1):c.834C>T (p.Thr278=)
NM_001614.5(ACTG1):c.837C>T (p.Phe279=)
NM_001614.5(ACTG1):c.840C>T (p.Asn280=)
NM_001614.5(ACTG1):c.852G>A (p.Lys284=)
NM_001614.5(ACTG1):c.864C>T (p.Asp288=)
NM_001614.5(ACTG1):c.872A>G (p.Lys291Arg) rs1568060667
NM_001614.5(ACTG1):c.876C>T (p.Asp292=)
NM_001614.5(ACTG1):c.87C>T (p.Ala29=) rs11549232
NM_001614.5(ACTG1):c.882C>T (p.Tyr294=)
NM_001614.5(ACTG1):c.898T>G (p.Ser300Ala)
NM_001614.5(ACTG1):c.900G>A (p.Ser300=)
NM_001614.5(ACTG1):c.906C>T (p.Gly302=)
NM_001614.5(ACTG1):c.909C>A (p.Thr303=)
NM_001614.5(ACTG1):c.912C>T (p.Thr304=)
NM_001614.5(ACTG1):c.932A>T (p.Asp311Val)
NM_001614.5(ACTG1):c.933C>T (p.Asp311=)
NM_001614.5(ACTG1):c.941A>G (p.Gln314Arg)
NM_001614.5(ACTG1):c.943A>G (p.Lys315Glu)
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser) rs1598551290
NM_001614.5(ACTG1):c.958C>T (p.Leu320=)
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)
NM_001614.5(ACTG1):c.984+12G>A
NM_001614.5(ACTG1):c.984+13G>A
NM_001614.5(ACTG1):c.984+13G>C
NM_001614.5(ACTG1):c.984+17G>C
NM_001614.5(ACTG1):c.984+19G>A
NM_001614.5(ACTG1):c.984+20G>A
NM_001614.5(ACTG1):c.984+7C>G
NM_001614.5(ACTG1):c.984+8G>A
NM_001614.5(ACTG1):c.985-10G>C
NM_001614.5(ACTG1):c.985-25_985-10dup
NM_001614.5(ACTG1):c.985-5T>G
NM_001614.5(ACTG1):c.985-5dup rs782289893
NM_001614.5(ACTG1):c.990C>T (p.Ile330=)
NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala) rs104894545
NM_001614.5(ACTG1):c.996C>A (p.Pro332=) rs200089021
NM_001614.5(ACTG1):c.9A>G (p.Glu3=)

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