Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.1001662_1001696delCA2586973524IDUAc.590-17_607del
n.646-17_663del
c.449-17_466del
c.550-17_567del
c.383-17_400del
c.407-17_424del
c.194-17_211del
n.490-17_507del
n.678-17_695del
c.302-17_319del
n.659-17_676del
c.-388_-354del (n.-388_-354del)
 gnomAD v4
4g.1001685_1001695delinsTGAACTACTACCA1433067671IDUAc.596_606delinsTGAACTACTAC (p.Leu199=)
n.652_662delinsTGAACTACTAC
c.455_465delinsTGAACTACTAC (p.Leu152=)
c.556_566delinsTGAACTACTAC
c.389_399delinsTGAACTACTAC (p.Leu130=)
c.413_423delinsTGAACTACTAC (p.Leu138=)
c.200_210delinsTGAACTACTAC (p.Leu67=)
n.496_506delinsTGAACTACTAC
n.684_694delinsTGAACTACTAC
c.308_318delinsTGAACTACTAC (p.Leu103=)
n.665_675delinsTGAACTACTAC
c.-365_-355delinsTGAACTACTAC (n.-365_-355delinsTGAACTACTAC)
4g.1001688_1001697delCA1058437572IDUAc.599_608del (p.Asn200MetfsTer?)
n.655_664del
c.458_467del (p.Asn153MetfsTer?)
c.559_568del
c.392_401del (p.Asn131MetfsTer?)
c.416_425del (p.Asn139MetfsTer?)
c.203_212del (p.Asn68MetfsTer?)
n.499_508del
n.687_696del
c.311_320del (p.Asn104MetfsTer?)
n.668_677del
c.-362_-353del (n.-362_-353del)
 dbSNP gnomAD v3 gnomAD v4
4g.1001693_1001695dupCA658823286IDUAc.604_606dup (p.Tyr202_Asp203insTyr)
n.660_662dup
c.463_465dup (p.Tyr155_Asp156insTyr)
c.564_566dup
c.397_399dup (p.Tyr133_Asp134insTyr)
c.421_423dup (p.Tyr141_Asp142insTyr)
c.208_210dup (p.Tyr70_Asp71insTyr)
n.504_506dup
n.692_694dup
c.316_318dup (p.Tyr106_Asp107insTyr)
n.673_675dup
c.-357_-355dup (n.-357_-355dup)
 ClinVar dbSNP
4g.1001690T>ACA355961891IDUAc.601T>A (p.Tyr201Asn)
n.657T>A
c.460T>A (p.Tyr154Asn)
c.561T>A
c.394T>A (p.Tyr132Asn)
c.418T>A (p.Tyr140Asn)
c.205T>A (p.Tyr69Asn)
n.501T>A
n.689T>A
c.313T>A (p.Tyr105Asn)
n.670T>A
c.-360T>A (n.-360T>A)
 dbSNP gnomAD v4
4g.1001690T>CCA355961886IDUAc.601T>C (p.Tyr201His)
n.657T>C
c.460T>C (p.Tyr154His)
c.561T>C
c.394T>C (p.Tyr132His)
c.418T>C (p.Tyr140His)
c.205T>C (p.Tyr69His)
n.501T>C
n.689T>C
c.313T>C (p.Tyr105His)
n.670T>C
c.-360T>C (n.-360T>C)
4g.1001690T>GCA355961884IDUAc.601T>G (p.Tyr201Asp)
n.657T>G
c.460T>G (p.Tyr154Asp)
c.561T>G
c.394T>G (p.Tyr132Asp)
c.418T>G (p.Tyr140Asp)
c.205T>G (p.Tyr69Asp)
n.501T>G
n.689T>G
c.313T>G (p.Tyr105Asp)
n.670T>G
c.-360T>G (n.-360T>G)
4g.1001690T=CA1433067685IDUAc.601T= (p.Tyr201=)
n.657T=
c.460T= (p.Tyr154=)
c.561T=
c.394T= (p.Tyr132=)
c.418T= (p.Tyr140=)
c.205T= (p.Tyr69=)
n.501T=
n.689T=
c.313T= (p.Tyr105=)
n.670T=
c.-360T= (n.-360T=)
4g.1001690_1001707dupCA2669479316IDUAc.601_618dup (p.Ser206_Glu207insTyrTyrAspAlaCysSer)
n.657_674dup
c.460_477dup (p.Ser159_Glu160insTyrTyrAspAlaCysSer)
c.561_578dup
c.394_411dup (p.Ser137_Glu138insTyrTyrAspAlaCysSer)
c.418_435dup (p.Ser145_Glu146insTyrTyrAspAlaCysSer)
c.205_222dup (p.Ser74_Glu75insTyrTyrAspAlaCysSer)
n.501_518dup
n.689_706dup
c.313_330dup (p.Ser110_Glu111insTyrTyrAspAlaCysSer)
n.670_687dup
c.-360_-343dup (n.-360_-343dup)
 gnomAD v4
4g.1001691A>CCA355961893IDUAc.602A>C (p.Tyr201Ser)
n.658A>C
c.461A>C (p.Tyr154Ser)
c.562A>C
c.395A>C (p.Tyr132Ser)
c.419A>C (p.Tyr140Ser)
c.206A>C (p.Tyr69Ser)
n.502A>C
n.690A>C
c.314A>C (p.Tyr105Ser)
n.671A>C
c.-359A>C (n.-359A>C)
4g.1001691A>GCA355961895IDUAc.602A>G (p.Tyr201Cys)
n.658A>G
c.461A>G (p.Tyr154Cys)
c.562A>G
c.395A>G (p.Tyr132Cys)
c.419A>G (p.Tyr140Cys)
c.206A>G (p.Tyr69Cys)
n.502A>G
n.690A>G
c.314A>G (p.Tyr105Cys)
n.671A>G
c.-359A>G (n.-359A>G)
4g.1001691A>TCA355961897IDUAc.602A>T (p.Tyr201Phe)
n.658A>T
c.461A>T (p.Tyr154Phe)
c.562A>T
c.395A>T (p.Tyr132Phe)
c.419A>T (p.Tyr140Phe)
c.206A>T (p.Tyr69Phe)
n.502A>T
n.690A>T
c.314A>T (p.Tyr105Phe)
n.671A>T
c.-359A>T (n.-359A>T)
4g.1001692C>ACA355961898IDUAc.603C>A (p.Tyr201Ter)
n.659C>A
c.462C>A (p.Tyr154Ter)
c.563C>A
c.396C>A (p.Tyr132Ter)
c.420C>A (p.Tyr140Ter)
c.207C>A (p.Tyr69Ter)
n.503C>A
n.691C>A
c.315C>A (p.Tyr105Ter)
n.672C>A
c.-358C>A (n.-358C>A)
 gnomAD v4
4g.1001692C=CA1433067690IDUAc.603C= (p.Tyr201=)
n.659C=
c.462C= (p.Tyr154=)
c.563C=
c.396C= (p.Tyr132=)
c.420C= (p.Tyr140=)
c.207C= (p.Tyr69=)
n.503C=
n.691C=
c.315C= (p.Tyr105=)
n.672C=
c.-358C= (n.-358C=)
4g.1001692C>GCA355961899IDUAc.603C>G (p.Tyr201Ter)
n.659C>G
c.462C>G (p.Tyr154Ter)
c.563C>G
c.396C>G (p.Tyr132Ter)
c.420C>G (p.Tyr140Ter)
c.207C>G (p.Tyr69Ter)
n.503C>G
n.691C>G
c.315C>G (p.Tyr105Ter)
n.672C>G
c.-358C>G (n.-358C>G)
 ClinVar dbSNP gnomAD v4
4g.1001692C>TCA2802028IDUAc.603C>T (p.Tyr201=)
n.659C>T
c.462C>T (p.Tyr154=)
c.563C>T
c.396C>T (p.Tyr132=)
c.420C>T (p.Tyr140=)
c.207C>T (p.Tyr69=)
n.503C>T
n.691C>T
c.315C>T (p.Tyr105=)
n.672C>T
c.-358C>T (n.-358C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001693T>ACA355961901IDUAc.604T>A (p.Tyr202Asn)
n.660T>A
c.463T>A (p.Tyr155Asn)
c.564T>A
c.397T>A (p.Tyr133Asn)
c.421T>A (p.Tyr141Asn)
c.208T>A (p.Tyr70Asn)
n.504T>A
n.692T>A
c.316T>A (p.Tyr106Asn)
n.673T>A
c.-357T>A (n.-357T>A)
4g.1001693T>CCA355961903IDUAc.604T>C (p.Tyr202His)
n.660T>C
c.463T>C (p.Tyr155His)
c.564T>C
c.397T>C (p.Tyr133His)
c.421T>C (p.Tyr141His)
c.208T>C (p.Tyr70His)
n.504T>C
n.692T>C
c.316T>C (p.Tyr106His)
n.673T>C
c.-357T>C (n.-357T>C)
 gnomAD v4
4g.1001693T>GCA355961902IDUAc.604T>G (p.Tyr202Asp)
n.660T>G
c.463T>G (p.Tyr155Asp)
c.564T>G
c.397T>G (p.Tyr133Asp)
c.421T>G (p.Tyr141Asp)
c.208T>G (p.Tyr70Asp)
n.504T>G
n.692T>G
c.316T>G (p.Tyr106Asp)
n.673T>G
c.-357T>G (n.-357T>G)
4g.1001694A>CCA355961904IDUAc.605A>C (p.Tyr202Ser)
n.661A>C
c.464A>C (p.Tyr155Ser)
c.565A>C
c.398A>C (p.Tyr133Ser)
c.422A>C (p.Tyr141Ser)
c.209A>C (p.Tyr70Ser)
n.505A>C
n.693A>C
c.317A>C (p.Tyr106Ser)
n.674A>C
c.-356A>C (n.-356A>C)
 gnomAD v4
4g.1001694A>GCA355961905IDUAc.605A>G (p.Tyr202Cys)
n.661A>G
c.464A>G (p.Tyr155Cys)
c.565A>G
c.398A>G (p.Tyr133Cys)
c.422A>G (p.Tyr141Cys)
c.209A>G (p.Tyr70Cys)
n.505A>G
n.693A>G
c.317A>G (p.Tyr106Cys)
n.674A>G
c.-356A>G (n.-356A>G)
4g.1001694A>TCA355961906IDUAc.605A>T (p.Tyr202Phe)
n.661A>T
c.464A>T (p.Tyr155Phe)
c.565A>T
c.398A>T (p.Tyr133Phe)
c.422A>T (p.Tyr141Phe)
c.209A>T (p.Tyr70Phe)
n.505A>T
n.693A>T
c.317A>T (p.Tyr106Phe)
n.674A>T
c.-356A>T (n.-356A>T)
 gnomAD v4
4g.1001695C>ACA355961907IDUAc.606C>A (p.Tyr202Ter)
n.662C>A
c.465C>A (p.Tyr155Ter)
c.566C>A
c.399C>A (p.Tyr133Ter)
c.423C>A (p.Tyr141Ter)
c.210C>A (p.Tyr70Ter)
n.506C>A
n.694C>A
c.318C>A (p.Tyr106Ter)
n.675C>A
c.-355C>A (n.-355C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1001695C=CA1433067692IDUAc.606C= (p.Tyr202=)
n.662C=
c.465C= (p.Tyr155=)
c.566C=
c.399C= (p.Tyr133=)
c.423C= (p.Tyr141=)
c.210C= (p.Tyr70=)
n.506C=
n.694C=
c.318C= (p.Tyr106=)
n.675C=
c.-355C= (n.-355C=)
4g.1001695C>GCA355961908IDUAc.606C>G (p.Tyr202Ter)
n.662C>G
c.465C>G (p.Tyr155Ter)
c.566C>G
c.399C>G (p.Tyr133Ter)
c.423C>G (p.Tyr141Ter)
c.210C>G (p.Tyr70Ter)
n.506C>G
n.694C>G
c.318C>G (p.Tyr106Ter)
n.675C>G
c.-355C>G (n.-355C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1001695C>TCA91167642IDUAc.606C>T (p.Tyr202=)
n.662C>T
c.465C>T (p.Tyr155=)
c.566C>T
c.399C>T (p.Tyr133=)
c.423C>T (p.Tyr141=)
c.210C>T (p.Tyr70=)
n.506C>T
n.694C>T
c.318C>T (p.Tyr106=)
n.675C>T
c.-355C>T (n.-355C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1001697_1001720delCA2669479337IDUAc.608_631del (p.Asp203_Arg210del)
n.664_687del
c.467_490del (p.Asp156_Arg163del)
c.401_424del (p.Asp134_Arg141del)
c.425_448del (p.Asp142_Arg149del)
c.212_235del (p.Asp71_Arg78del)
n.508_531del
n.696_719del
c.320_343del (p.Asp107_Arg114del)
n.677_700del
c.-353_-330del (n.-353_-330del)
 gnomAD v4
4g.1001696G>ACA355961909IDUAc.607G>A (p.Asp203Asn)
n.663G>A
c.466G>A (p.Asp156Asn)
c.567G>A
c.400G>A (p.Asp134Asn)
c.424G>A (p.Asp142Asn)
c.211G>A (p.Asp71Asn)
n.507G>A
n.695G>A
c.319G>A (p.Asp107Asn)
n.676G>A
c.-354G>A (n.-354G>A)
 ClinVar dbSNP gnomAD v4
4g.1001696G>CCA355961910IDUAc.607G>C (p.Asp203His)
n.663G>C
c.466G>C (p.Asp156His)
c.567G>C
c.400G>C (p.Asp134His)
c.424G>C (p.Asp142His)
c.211G>C (p.Asp71His)
n.507G>C
n.695G>C
c.319G>C (p.Asp107His)
n.676G>C
c.-354G>C (n.-354G>C)
 gnomAD v4
4g.1001696G>TCA355961912IDUAc.607G>T (p.Asp203Tyr)
n.663G>T
c.466G>T (p.Asp156Tyr)
c.567G>T
c.400G>T (p.Asp134Tyr)
c.424G>T (p.Asp142Tyr)
c.211G>T (p.Asp71Tyr)
n.507G>T
n.695G>T
c.319G>T (p.Asp107Tyr)
n.676G>T
c.-354G>T (n.-354G>T)
 ClinVar dbSNP
4g.1001696_1001703dupCA2739269992IDUAc.607_614dup (p.Cys205TrpfsTer32)
n.663_670dup
c.466_473dup (p.Cys158TrpfsTer32)
c.567_574dup
c.400_407dup (p.Cys136TrpfsTer32)
c.424_431dup (p.Cys144TrpfsTer32)
c.211_218dup (p.Cys73TrpfsTer32)
n.507_514dup
n.695_702dup
c.319_326dup (p.Cys109TrpfsTer32)
n.676_683dup
c.-354_-347dup (n.-354_-347dup)
 ClinVar
4g.1001697A=CA1433067695IDUAc.608A= (p.Asp203=)
n.664A=
c.467A= (p.Asp156=)
c.568A=
c.401A= (p.Asp134=)
c.425A= (p.Asp142=)
c.212A= (p.Asp71=)
n.508A=
n.696A=
c.320A= (p.Asp107=)
n.677A=
c.-353A= (n.-353A=)
4g.1001697A>CCA355961914IDUAc.608A>C (p.Asp203Ala)
n.664A>C
c.467A>C (p.Asp156Ala)
c.568A>C
c.401A>C (p.Asp134Ala)
c.425A>C (p.Asp142Ala)
c.212A>C (p.Asp71Ala)
n.508A>C
n.696A>C
c.320A>C (p.Asp107Ala)
n.677A>C
c.-353A>C (n.-353A>C)
4g.1001697A>GCA355961915IDUAc.608A>G (p.Asp203Gly)
n.664A>G
c.467A>G (p.Asp156Gly)
c.568A>G
c.401A>G (p.Asp134Gly)
c.425A>G (p.Asp142Gly)
c.212A>G (p.Asp71Gly)
n.508A>G
n.696A>G
c.320A>G (p.Asp107Gly)
n.677A>G
c.-353A>G (n.-353A>G)
 ClinVar dbSNP gnomAD v4
4g.1001697A>TCA355961917IDUAc.608A>T (p.Asp203Val)
n.664A>T
c.467A>T (p.Asp156Val)
c.568A>T
c.401A>T (p.Asp134Val)
c.425A>T (p.Asp142Val)
c.212A>T (p.Asp71Val)
n.508A>T
n.696A>T
c.320A>T (p.Asp107Val)
n.677A>T
c.-353A>T (n.-353A>T)
 gnomAD v4
4g.1001698T>ACA355961920IDUAc.609T>A (p.Asp203Glu)
n.665T>A
c.468T>A (p.Asp156Glu)
c.569T>A
c.402T>A (p.Asp134Glu)
c.426T>A (p.Asp142Glu)
c.213T>A (p.Asp71Glu)
n.509T>A
n.697T>A
c.321T>A (p.Asp107Glu)
n.678T>A
c.-352T>A (n.-352T>A)
4g.1001698T>CCA438057198IDUAc.609T>C (p.Asp203=)
n.665T>C
c.468T>C (p.Asp156=)
c.569T>C
c.402T>C (p.Asp134=)
c.426T>C (p.Asp142=)
c.213T>C (p.Asp71=)
n.509T>C
n.697T>C
c.321T>C (p.Asp107=)
n.678T>C
c.-352T>C (n.-352T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.1001698T>GCA355961919IDUAc.609T>G (p.Asp203Glu)
n.665T>G
c.468T>G (p.Asp156Glu)
c.569T>G
c.402T>G (p.Asp134Glu)
c.426T>G (p.Asp142Glu)
c.213T>G (p.Asp71Glu)
n.509T>G
n.697T>G
c.321T>G (p.Asp107Glu)
n.678T>G
c.-352T>G (n.-352T>G)
 gnomAD v4
4g.1001698T=CA1433067699IDUAc.609T= (p.Asp203=)
n.665T=
c.468T= (p.Asp156=)
c.569T=
c.402T= (p.Asp134=)
c.426T= (p.Asp142=)
c.213T= (p.Asp71=)
n.509T=
n.697T=
c.321T= (p.Asp107=)
n.678T=
c.-352T= (n.-352T=)
4g.1001701_1001704dupCA10576338IDUAc.612_615dup (p.Ser206LeufsTer?)
n.668_671dup
c.471_474dup (p.Ser159LeufsTer?)
c.572_575dup
c.405_408dup (p.Ser137LeufsTer?)
c.429_432dup (p.Ser145LeufsTer?)
c.216_219dup (p.Ser74LeufsTer?)
n.512_515dup
n.700_703dup
c.324_327dup (p.Ser110LeufsTer?)
n.681_684dup
c.-349_-346dup (n.-349_-346dup)
 ClinVar dbSNP
4g.1001701_1001704delCA2573137565IDUAc.612_615del (p.Cys205ArgfsTer28)
n.668_671del
c.471_474del (p.Cys158ArgfsTer28)
c.572_575del
c.405_408del (p.Cys136ArgfsTer28)
c.429_432del (p.Cys144ArgfsTer28)
c.216_219del (p.Cys73ArgfsTer28)
n.512_515del
n.700_703del
c.324_327del (p.Cys109ArgfsTer28)
n.681_684del
c.-349_-346del (n.-349_-346del)
 ClinVar dbSNP
4g.1001699G>ACA2802029IDUAc.610G>A (p.Ala204Thr)
n.666G>A
c.469G>A (p.Ala157Thr)
c.570G>A
c.403G>A (p.Ala135Thr)
c.427G>A (p.Ala143Thr)
c.214G>A (p.Ala72Thr)
n.510G>A
n.698G>A
c.322G>A (p.Ala108Thr)
n.679G>A
c.-351G>A (n.-351G>A)
 dbSNP ExAC gnomAD v4
4g.1001699G>CCA355961922IDUAc.610G>C (p.Ala204Pro)
n.666G>C
c.469G>C (p.Ala157Pro)
c.570G>C
c.403G>C (p.Ala135Pro)
c.427G>C (p.Ala143Pro)
c.214G>C (p.Ala72Pro)
n.510G>C
n.698G>C
c.322G>C (p.Ala108Pro)
n.679G>C
c.-351G>C (n.-351G>C)
4g.1001699G=CA1433067703IDUAc.610G= (p.Ala204=)
n.666G=
c.469G= (p.Ala157=)
c.570G=
c.403G= (p.Ala135=)
c.427G= (p.Ala143=)
c.214G= (p.Ala72=)
n.510G=
n.698G=
c.322G= (p.Ala108=)
n.679G=
c.-351G= (n.-351G=)
4g.1001699G>TCA355961921IDUAc.610G>T (p.Ala204Ser)
n.666G>T
c.469G>T (p.Ala157Ser)
c.570G>T
c.403G>T (p.Ala135Ser)
c.427G>T (p.Ala143Ser)
c.214G>T (p.Ala72Ser)
n.510G>T
n.698G>T
c.322G>T (p.Ala108Ser)
n.679G>T
c.-351G>T (n.-351G>T)
4g.1001700C>ACA355961923IDUAc.611C>A (p.Ala204Asp)
n.667C>A
c.470C>A (p.Ala157Asp)
c.571C>A
c.404C>A (p.Ala135Asp)
c.428C>A (p.Ala143Asp)
c.215C>A (p.Ala72Asp)
n.511C>A
n.699C>A
c.323C>A (p.Ala108Asp)
n.680C>A
c.-350C>A (n.-350C>A)
 gnomAD v4
4g.1001700C=CA1433067705IDUAc.611C= (p.Ala204=)
n.667C=
c.470C= (p.Ala157=)
c.571C=
c.404C= (p.Ala135=)
c.428C= (p.Ala143=)
c.215C= (p.Ala72=)
n.511C=
n.699C=
c.323C= (p.Ala108=)
n.680C=
c.-350C= (n.-350C=)
4g.1001700C>GCA355961924IDUAc.611C>G (p.Ala204Gly)
n.667C>G
c.470C>G (p.Ala157Gly)
c.571C>G
c.404C>G (p.Ala135Gly)
c.428C>G (p.Ala143Gly)
c.215C>G (p.Ala72Gly)
n.511C>G
n.699C>G
c.323C>G (p.Ala108Gly)
n.680C>G
c.-350C>G (n.-350C>G)
4g.1001700C>TCA355961925IDUAc.611C>T (p.Ala204Val)
n.667C>T
c.470C>T (p.Ala157Val)
c.571C>T
c.404C>T (p.Ala135Val)
c.428C>T (p.Ala143Val)
c.215C>T (p.Ala72Val)
n.511C>T
n.699C>T
c.323C>T (p.Ala108Val)
n.680C>T
c.-350C>T (n.-350C>T)
4g.1001701C>ACA438057201IDUAc.612C>A (p.Ala204=)
n.668C>A
c.471C>A (p.Ala157=)
c.572C>A
c.405C>A (p.Ala135=)
c.429C>A (p.Ala143=)
c.216C>A (p.Ala72=)
n.512C>A
n.700C>A
c.324C>A (p.Ala108=)
n.681C>A
c.-349C>A (n.-349C>A)
 gnomAD v4
4g.1001701C=CA1433067709IDUAc.612C= (p.Ala204=)
n.668C=
c.471C= (p.Ala157=)
c.572C=
c.405C= (p.Ala135=)
c.429C= (p.Ala143=)
c.216C= (p.Ala72=)
n.512C=
n.700C=
c.324C= (p.Ala108=)
n.681C=
c.-349C= (n.-349C=)
4g.1001701C>GCA2802030IDUAc.612C>G (p.Ala204=)
n.668C>G
c.471C>G (p.Ala157=)
c.572C>G
c.405C>G (p.Ala135=)
c.429C>G (p.Ala143=)
c.216C>G (p.Ala72=)
n.512C>G
n.700C>G
c.324C>G (p.Ala108=)
n.681C>G
c.-349C>G (n.-349C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001701C>TCA438057205IDUAc.612C>T (p.Ala204=)
n.668C>T
c.471C>T (p.Ala157=)
c.572C>T
c.405C>T (p.Ala135=)
c.429C>T (p.Ala143=)
c.216C>T (p.Ala72=)
n.512C>T
n.700C>T
c.324C>T (p.Ala108=)
n.681C>T
c.-349C>T (n.-349C>T)
 ClinVar dbSNP gnomAD v4
4g.1001702_1001706dupCA256123IDUAc.613_617dup (p.Glu207AlafsTer29)
n.669_673dup
c.472_476dup (p.Glu160AlafsTer29)
c.573_577dup
c.406_410dup (p.Glu138AlafsTer29)
c.430_434dup (p.Glu146AlafsTer29)
c.217_221dup (p.Glu75AlafsTer29)
n.513_517dup
n.701_705dup
c.325_329dup (p.Glu111AlafsTer29)
n.682_686dup
c.-348_-344dup (n.-348_-344dup)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1001702T>ACA2802031IDUAc.613T>A (p.Cys205Ser)
n.669T>A
c.472T>A (p.Cys158Ser)
c.573T>A
c.406T>A (p.Cys136Ser)
c.430T>A (p.Cys144Ser)
c.217T>A (p.Cys73Ser)
n.513T>A
n.701T>A
c.325T>A (p.Cys109Ser)
n.682T>A
c.-348T>A (n.-348T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001702T>CCA355961926IDUAc.613T>C (p.Cys205Arg)
n.669T>C
c.472T>C (p.Cys158Arg)
c.573T>C
c.406T>C (p.Cys136Arg)
c.430T>C (p.Cys144Arg)
c.217T>C (p.Cys73Arg)
n.513T>C
n.701T>C
c.325T>C (p.Cys109Arg)
n.682T>C
c.-348T>C (n.-348T>C)
4g.1001702T>GCA355961927IDUAc.613T>G (p.Cys205Gly)
n.669T>G
c.472T>G (p.Cys158Gly)
c.573T>G
c.406T>G (p.Cys136Gly)
c.430T>G (p.Cys144Gly)
c.217T>G (p.Cys73Gly)
n.513T>G
n.701T>G
c.325T>G (p.Cys109Gly)
n.682T>G
c.-348T>G (n.-348T>G)
 ClinVar
4g.1001702T=CA1433067713IDUAc.613T= (p.Cys205=)
n.669T=
c.472T= (p.Cys158=)
c.573T=
c.406T= (p.Cys136=)
c.430T= (p.Cys144=)
c.217T= (p.Cys73=)
n.513T=
n.701T=
c.325T= (p.Cys109=)
n.682T=
c.-348T= (n.-348T=)
4g.1001703G>ACA355961928IDUAc.614G>A (p.Cys205Tyr)
n.670G>A
c.473G>A (p.Cys158Tyr)
c.574G>A
c.407G>A (p.Cys136Tyr)
c.431G>A (p.Cys144Tyr)
c.218G>A (p.Cys73Tyr)
n.514G>A
n.702G>A
c.326G>A (p.Cys109Tyr)
n.683G>A
c.-347G>A (n.-347G>A)
 ClinVar dbSNP gnomAD v4
4g.1001703G>CCA355961929IDUAc.614G>C (p.Cys205Ser)
n.670G>C
c.473G>C (p.Cys158Ser)
c.574G>C
c.407G>C (p.Cys136Ser)
c.431G>C (p.Cys144Ser)
c.218G>C (p.Cys73Ser)
n.514G>C
n.702G>C
c.326G>C (p.Cys109Ser)
n.683G>C
c.-347G>C (n.-347G>C)
 dbSNP
4g.1001703G=CA1433067715IDUAc.614G= (p.Cys205=)
n.670G=
c.473G= (p.Cys158=)
c.574G=
c.407G= (p.Cys136=)
c.431G= (p.Cys144=)
c.218G= (p.Cys73=)
n.514G=
n.702G=
c.326G= (p.Cys109=)
n.683G=
c.-347G= (n.-347G=)
4g.1001703G>TCA355961930IDUAc.614G>T (p.Cys205Phe)
n.670G>T
c.473G>T (p.Cys158Phe)
c.574G>T
c.407G>T (p.Cys136Phe)
c.431G>T (p.Cys144Phe)
c.218G>T (p.Cys73Phe)
n.514G>T
n.702G>T
c.326G>T (p.Cys109Phe)
n.683G>T
c.-347G>T (n.-347G>T)
4g.1001704C>ACA355961931IDUAc.615C>A (p.Cys205Ter)
n.671C>A
c.474C>A (p.Cys158Ter)
c.575C>A
c.408C>A (p.Cys136Ter)
c.432C>A (p.Cys144Ter)
c.219C>A (p.Cys73Ter)
n.515C>A
n.703C>A
c.327C>A (p.Cys109Ter)
n.684C>A
c.-346C>A (n.-346C>A)
 ClinVar dbSNP gnomAD v4
4g.1001704C=CA1433067717IDUAc.615C= (p.Cys205=)
n.671C=
c.474C= (p.Cys158=)
c.575C=
c.408C= (p.Cys136=)
c.432C= (p.Cys144=)
c.219C= (p.Cys73=)
n.515C=
n.703C=
c.327C= (p.Cys109=)
n.684C=
c.-346C= (n.-346C=)
4g.1001704C>GCA355961932IDUAc.615C>G (p.Cys205Trp)
n.671C>G
c.474C>G (p.Cys158Trp)
c.575C>G
c.408C>G (p.Cys136Trp)
c.432C>G (p.Cys144Trp)
c.219C>G (p.Cys73Trp)
n.515C>G
n.703C>G
c.327C>G (p.Cys109Trp)
n.684C>G
c.-346C>G (n.-346C>G)
4g.1001704C>TCA438057208IDUAc.615C>T (p.Cys205=)
n.671C>T
c.474C>T (p.Cys158=)
c.575C>T
c.408C>T (p.Cys136=)
c.432C>T (p.Cys144=)
c.219C>T (p.Cys73=)
n.515C>T
n.703C>T
c.327C>T (p.Cys109=)
n.684C>T
c.-346C>T (n.-346C>T)
4g.1001705_1001706delCA2586973526IDUAc.616_617del (p.Ser206GlyfsTer?)
n.672_673del
c.475_476del (p.Ser159GlyfsTer?)
c.576_577del
c.409_410del (p.Ser137GlyfsTer?)
c.433_434del (p.Ser145GlyfsTer?)
c.220_221del (p.Ser74GlyfsTer?)
n.516_517del
n.704_705del
c.328_329del (p.Ser110GlyfsTer?)
n.685_686del
c.-345_-344del (n.-345_-344del)
4g.1001705T>ACA355961934IDUAc.616T>A (p.Ser206Thr)
n.672T>A
c.475T>A (p.Ser159Thr)
c.576T>A
c.409T>A (p.Ser137Thr)
c.433T>A (p.Ser145Thr)
c.220T>A (p.Ser74Thr)
n.516T>A
n.704T>A
c.328T>A (p.Ser110Thr)
n.685T>A
c.-345T>A (n.-345T>A)
4g.1001705T>CCA2802032IDUAc.616T>C (p.Ser206Pro)
n.672T>C
c.475T>C (p.Ser159Pro)
c.576T>C
c.409T>C (p.Ser137Pro)
c.433T>C (p.Ser145Pro)
c.220T>C (p.Ser74Pro)
n.516T>C
n.704T>C
c.328T>C (p.Ser110Pro)
n.685T>C
c.-345T>C (n.-345T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001705T>GCA355961933IDUAc.616T>G (p.Ser206Ala)
n.672T>G
c.475T>G (p.Ser159Ala)
c.576T>G
c.409T>G (p.Ser137Ala)
c.433T>G (p.Ser145Ala)
c.220T>G (p.Ser74Ala)
n.516T>G
n.704T>G
c.328T>G (p.Ser110Ala)
n.685T>G
c.-345T>G (n.-345T>G)
4g.1001705T=CA1433067720IDUAc.616T= (p.Ser206=)
n.672T=
c.475T= (p.Ser159=)
c.576T=
c.409T= (p.Ser137=)
c.433T= (p.Ser145=)
c.220T= (p.Ser74=)
n.516T=
n.704T=
c.328T= (p.Ser110=)
n.685T=
c.-345T= (n.-345T=)
4g.1001706C>ACA355961935IDUAc.617C>A (p.Ser206Ter)
n.673C>A
c.476C>A (p.Ser159Ter)
c.577C>A
c.410C>A (p.Ser137Ter)
c.434C>A (p.Ser145Ter)
c.221C>A (p.Ser74Ter)
n.517C>A
n.705C>A
c.329C>A (p.Ser110Ter)
n.686C>A
c.-344C>A (n.-344C>A)
 ClinVar
4g.1001706C=CA1433067725IDUAc.617C= (p.Ser206=)
n.673C=
c.476C= (p.Ser159=)
c.577C=
c.410C= (p.Ser137=)
c.434C= (p.Ser145=)
c.221C= (p.Ser74=)
n.517C=
n.705C=
c.329C= (p.Ser110=)
n.686C=
c.-344C= (n.-344C=)
4g.1001706C>GCA355961936IDUAc.617C>G (p.Ser206Trp)
n.673C>G
c.476C>G (p.Ser159Trp)
c.577C>G
c.410C>G (p.Ser137Trp)
c.434C>G (p.Ser145Trp)
c.221C>G (p.Ser74Trp)
n.517C>G
n.705C>G
c.329C>G (p.Ser110Trp)
n.686C>G
c.-344C>G (n.-344C>G)
 dbSNP gnomAD v4
4g.1001706C>TCA2802033IDUAc.617C>T (p.Ser206Leu)
n.673C>T
c.476C>T (p.Ser159Leu)
c.577C>T
c.410C>T (p.Ser137Leu)
c.434C>T (p.Ser145Leu)
c.221C>T (p.Ser74Leu)
n.517C>T
n.705C>T
c.329C>T (p.Ser110Leu)
n.686C>T
c.-344C>T (n.-344C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001707G>ACA2802034IDUAc.618G>A (p.Ser206=)
n.674G>A
c.477G>A (p.Ser159=)
c.578G>A
c.411G>A (p.Ser137=)
c.435G>A (p.Ser145=)
c.222G>A (p.Ser74=)
n.518G>A
n.706G>A
c.330G>A (p.Ser110=)
n.687G>A
c.-343G>A (n.-343G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001707G>CCA438057210IDUAc.618G>C (p.Ser206=)
n.674G>C
c.477G>C (p.Ser159=)
c.578G>C
c.411G>C (p.Ser137=)
c.435G>C (p.Ser145=)
c.222G>C (p.Ser74=)
n.518G>C
n.706G>C
c.330G>C (p.Ser110=)
n.687G>C
c.-343G>C (n.-343G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1001707G=CA1433067727IDUAc.618G= (p.Ser206=)
n.674G=
c.477G= (p.Ser159=)
c.578G=
c.411G= (p.Ser137=)
c.435G= (p.Ser145=)
c.222G= (p.Ser74=)
n.518G=
n.706G=
c.330G= (p.Ser110=)
n.687G=
c.-343G= (n.-343G=)
4g.1001707G>TCA438057211IDUAc.618G>T (p.Ser206=)
n.674G>T
c.477G>T (p.Ser159=)
c.578G>T
c.411G>T (p.Ser137=)
c.435G>T (p.Ser145=)
c.222G>T (p.Ser74=)
n.518G>T
n.706G>T
c.330G>T (p.Ser110=)
n.687G>T
c.-343G>T (n.-343G>T)
 ClinVar dbSNP gnomAD v4
4g.1001708G>ACA355961937IDUAc.619G>A (p.Glu207Lys)
n.675G>A
c.478G>A (p.Glu160Lys)
c.579G>A
c.412G>A (p.Glu138Lys)
c.436G>A (p.Glu146Lys)
c.223G>A (p.Glu75Lys)
n.519G>A
n.707G>A
c.331G>A (p.Glu111Lys)
n.688G>A
c.-342G>A (n.-342G>A)
4g.1001708G>CCA355961938IDUAc.619G>C (p.Glu207Gln)
n.675G>C
c.478G>C (p.Glu160Gln)
c.579G>C
c.412G>C (p.Glu138Gln)
c.436G>C (p.Glu146Gln)
c.223G>C (p.Glu75Gln)
n.519G>C
n.707G>C
c.331G>C (p.Glu111Gln)
n.688G>C
c.-342G>C (n.-342G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.1001708G=CA1433067732IDUAc.619G= (p.Glu207=)
n.675G=
c.478G= (p.Glu160=)
c.579G=
c.412G= (p.Glu138=)
c.436G= (p.Glu146=)
c.223G= (p.Glu75=)
n.519G=
n.707G=
c.331G= (p.Glu111=)
n.688G=
c.-342G= (n.-342G=)
4g.1001708G>TCA355961939IDUAc.619G>T (p.Glu207Ter)
n.675G>T
c.478G>T (p.Glu160Ter)
c.579G>T
c.412G>T (p.Glu138Ter)
c.436G>T (p.Glu146Ter)
c.223G>T (p.Glu75Ter)
n.519G>T
n.707G>T
c.331G>T (p.Glu111Ter)
n.688G>T
c.-342G>T (n.-342G>T)
 gnomAD v4
4g.1001709A>CCA355961940IDUAc.620A>C (p.Glu207Ala)
n.676A>C
c.479A>C (p.Glu160Ala)
c.580A>C
c.413A>C (p.Glu138Ala)
c.437A>C (p.Glu146Ala)
c.224A>C (p.Glu75Ala)
n.520A>C
n.708A>C
c.332A>C (p.Glu111Ala)
n.689A>C
c.-341A>C (n.-341A>C)
4g.1001709A>GCA355961941IDUAc.620A>G (p.Glu207Gly)
n.676A>G
c.479A>G (p.Glu160Gly)
c.580A>G
c.413A>G (p.Glu138Gly)
c.437A>G (p.Glu146Gly)
c.224A>G (p.Glu75Gly)
n.520A>G
n.708A>G
c.332A>G (p.Glu111Gly)
n.689A>G
c.-341A>G (n.-341A>G)
 gnomAD v4 COSMIC COSMIC
4g.1001709A>TCA355961942IDUAc.620A>T (p.Glu207Val)
n.676A>T
c.479A>T (p.Glu160Val)
c.580A>T
c.413A>T (p.Glu138Val)
c.437A>T (p.Glu146Val)
c.224A>T (p.Glu75Val)
n.520A>T
n.708A>T
c.332A>T (p.Glu111Val)
n.689A>T
c.-341A>T (n.-341A>T)
4g.1001710G>ACA2802035IDUAc.621G>A (p.Glu207=)
n.677G>A
c.480G>A (p.Glu160=)
c.581G>A
c.414G>A (p.Glu138=)
c.438G>A (p.Glu146=)
c.225G>A (p.Glu75=)
n.521G>A
n.709G>A
c.333G>A (p.Glu111=)
n.690G>A
c.-340G>A (n.-340G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001710G>CCA355961943IDUAc.621G>C (p.Glu207Asp)
n.677G>C
c.480G>C (p.Glu160Asp)
c.581G>C
c.414G>C (p.Glu138Asp)
c.438G>C (p.Glu146Asp)
c.225G>C (p.Glu75Asp)
n.521G>C
n.709G>C
c.333G>C (p.Glu111Asp)
n.690G>C
c.-340G>C (n.-340G>C)
4g.1001710G=CA1433067736IDUAc.621G= (p.Glu207=)
n.677G=
c.480G= (p.Glu160=)
c.581G=
c.414G= (p.Glu138=)
c.438G= (p.Glu146=)
c.225G= (p.Glu75=)
n.521G=
n.709G=
c.333G= (p.Glu111=)
n.690G=
c.-340G= (n.-340G=)
4g.1001710G>TCA355961944IDUAc.621G>T (p.Glu207Asp)
n.677G>T
c.480G>T (p.Glu160Asp)
c.581G>T
c.414G>T (p.Glu138Asp)
c.438G>T (p.Glu146Asp)
c.225G>T (p.Glu75Asp)
n.521G>T
n.709G>T
c.333G>T (p.Glu111Asp)
n.690G>T
c.-340G>T (n.-340G>T)
 ClinVar gnomAD v4
4g.1001711_1001718dupCA2669479391IDUAc.622_629dup (p.Ala211ValfsTer26)
n.678_685dup
c.481_488dup (p.Ala164ValfsTer26)
c.415_422dup (p.Ala142ValfsTer26)
c.439_446dup (p.Ala150ValfsTer26)
c.226_233dup (p.Ala79ValfsTer26)
n.522_529dup
n.710_717dup
c.334_341dup (p.Ala115ValfsTer26)
n.691_698dup
c.-339_-332dup (n.-339_-332dup)
 gnomAD v4
4g.1001711G>ACA2802036IDUAc.622G>A (p.Gly208Ser)
n.678G>A
c.481G>A (p.Gly161Ser)
c.582G>A
c.415G>A (p.Gly139Ser)
c.439G>A (p.Gly147Ser)
c.226G>A (p.Gly76Ser)
n.522G>A
n.710G>A
c.334G>A (p.Gly112Ser)
n.691G>A
c.-339G>A (n.-339G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001711G>CCA355961946IDUAc.622G>C (p.Gly208Arg)
n.678G>C
c.481G>C (p.Gly161Arg)
c.582G>C
c.415G>C (p.Gly139Arg)
c.439G>C (p.Gly147Arg)
c.226G>C (p.Gly76Arg)
n.522G>C
n.710G>C
c.334G>C (p.Gly112Arg)
n.691G>C
c.-339G>C (n.-339G>C)
4g.1001711G=CA1433067739IDUAc.622G= (p.Gly208=)
n.678G=
c.481G= (p.Gly161=)
c.582G=
c.415G= (p.Gly139=)
c.439G= (p.Gly147=)
c.226G= (p.Gly76=)
n.522G=
n.710G=
c.334G= (p.Gly112=)
n.691G=
c.-339G= (n.-339G=)
4g.1001711G>TCA355961945IDUAc.622G>T (p.Gly208Cys)
n.678G>T
c.481G>T (p.Gly161Cys)
c.582G>T
c.415G>T (p.Gly139Cys)
c.439G>T (p.Gly147Cys)
c.226G>T (p.Gly76Cys)
n.522G>T
n.710G>T
c.334G>T (p.Gly112Cys)
n.691G>T
c.-339G>T (n.-339G>T)
4g.1001712G>ACA355961948IDUAc.623G>A (p.Gly208Asp)
n.679G>A
c.482G>A (p.Gly161Asp)
c.583G>A
c.416G>A (p.Gly139Asp)
c.440G>A (p.Gly147Asp)
c.227G>A (p.Gly76Asp)
n.523G>A
n.711G>A
c.335G>A (p.Gly112Asp)
n.692G>A
c.-338G>A (n.-338G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.1001712G>CCA355961947IDUAc.623G>C (p.Gly208Ala)
n.679G>C
c.482G>C (p.Gly161Ala)
c.583G>C
c.416G>C (p.Gly139Ala)
c.440G>C (p.Gly147Ala)
c.227G>C (p.Gly76Ala)
n.523G>C
n.711G>C
c.335G>C (p.Gly112Ala)
n.692G>C
c.-338G>C (n.-338G>C)
 ClinVar gnomAD v4
4g.1001712G=CA1433067742IDUAc.623G= (p.Gly208=)
n.679G=
c.482G= (p.Gly161=)
c.583G=
c.416G= (p.Gly139=)
c.440G= (p.Gly147=)
c.227G= (p.Gly76=)
n.523G=
n.711G=
c.335G= (p.Gly112=)
n.692G=
c.-338G= (n.-338G=)
4g.1001712G>TCA355961949IDUAc.623G>T (p.Gly208Val)
n.679G>T
c.482G>T (p.Gly161Val)
c.583G>T
c.416G>T (p.Gly139Val)
c.440G>T (p.Gly147Val)
c.227G>T (p.Gly76Val)
n.523G>T
n.711G>T
c.335G>T (p.Gly112Val)
n.692G>T
c.-338G>T (n.-338G>T)
 gnomAD v4
4g.1001713T>ACA438057217IDUAc.624T>A (p.Gly208=)
n.680T>A
c.483T>A (p.Gly161=)
c.584T>A
c.417T>A (p.Gly139=)
c.441T>A (p.Gly147=)
c.228T>A (p.Gly76=)
n.524T>A
n.712T>A
c.336T>A (p.Gly112=)
n.693T>A
c.-337T>A (n.-337T>A)
4g.1001713T>CCA438057218IDUAc.624T>C (p.Gly208=)
n.680T>C
c.483T>C (p.Gly161=)
c.584T>C
c.417T>C (p.Gly139=)
c.441T>C (p.Gly147=)
c.228T>C (p.Gly76=)
n.524T>C
n.712T>C
c.336T>C (p.Gly112=)
n.693T>C
c.-337T>C (n.-337T>C)
4g.1001713T>GCA438057220IDUAc.624T>G (p.Gly208=)
n.680T>G
c.483T>G (p.Gly161=)
c.584T>G
c.417T>G (p.Gly139=)
c.441T>G (p.Gly147=)
c.228T>G (p.Gly76=)
n.524T>G
n.712T>G
c.336T>G (p.Gly112=)
n.693T>G
c.-337T>G (n.-337T>G)
 dbSNP gnomAD v4
4g.1001713_1001717dupCA2579987794IDUAc.624_628dup (p.Arg210LeufsTer26)
n.680_684dup
c.483_487dup (p.Arg163LeufsTer26)
c.417_421dup (p.Arg141LeufsTer26)
c.441_445dup (p.Arg149LeufsTer26)
c.228_232dup (p.Arg78LeufsTer26)
n.524_528dup
n.712_716dup
c.336_340dup (p.Arg114LeufsTer26)
n.693_697dup
c.-337_-333dup (n.-337_-333dup)
4g.1001714C>ACA355961950IDUAc.625C>A (p.Leu209Met)
n.681C>A
c.484C>A (p.Leu162Met)
c.585C>A
c.418C>A (p.Leu140Met)
c.442C>A (p.Leu148Met)
c.229C>A (p.Leu77Met)
n.525C>A
n.713C>A
c.337C>A (p.Leu113Met)
n.694C>A
c.-336C>A (n.-336C>A)
4g.1001714C>GCA355961951IDUAc.625C>G (p.Leu209Val)
n.681C>G
c.484C>G (p.Leu162Val)
c.585C>G
c.418C>G (p.Leu140Val)
c.442C>G (p.Leu148Val)
c.229C>G (p.Leu77Val)
n.525C>G
n.713C>G
c.337C>G (p.Leu113Val)
n.694C>G
c.-336C>G (n.-336C>G)
4g.1001714C>TCA438057221IDUAc.625C>T (p.Leu209=)
n.681C>T
c.484C>T (p.Leu162=)
c.585C>T
c.418C>T (p.Leu140=)
c.442C>T (p.Leu148=)
c.229C>T (p.Leu77=)
n.525C>T
n.713C>T
c.337C>T (p.Leu113=)
n.694C>T
c.-336C>T (n.-336C>T)
 ClinVar dbSNP
4g.1001715T>ACA355961952IDUAc.626T>A (p.Leu209Gln)
n.682T>A
c.485T>A (p.Leu162Gln)
c.586T>A
c.419T>A (p.Leu140Gln)
c.443T>A (p.Leu148Gln)
c.230T>A (p.Leu77Gln)
n.526T>A
n.714T>A
c.338T>A (p.Leu113Gln)
n.695T>A
c.-335T>A (n.-335T>A)
4g.1001715T>CCA355961953IDUAc.626T>C (p.Leu209Pro)
n.682T>C
c.485T>C (p.Leu162Pro)
c.586T>C
c.419T>C (p.Leu140Pro)
c.443T>C (p.Leu148Pro)
c.230T>C (p.Leu77Pro)
n.526T>C
n.714T>C
c.338T>C (p.Leu113Pro)
n.695T>C
c.-335T>C (n.-335T>C)
 gnomAD v4
4g.1001715T>GCA355961954IDUAc.626T>G (p.Leu209Arg)
n.682T>G
c.485T>G (p.Leu162Arg)
c.586T>G
c.419T>G (p.Leu140Arg)
c.443T>G (p.Leu148Arg)
c.230T>G (p.Leu77Arg)
n.526T>G
n.714T>G
c.338T>G (p.Leu113Arg)
n.695T>G
c.-335T>G (n.-335T>G)
4g.1001716G>ACA438057223IDUAc.627G>A (p.Leu209=)
n.683G>A
c.486G>A (p.Leu162=)
c.420G>A (p.Leu140=)
c.444G>A (p.Leu148=)
c.231G>A (p.Leu77=)
n.527G>A
n.715G>A
c.339G>A (p.Leu113=)
n.696G>A
c.-334G>A (n.-334G>A)
 ClinVar dbSNP gnomAD v4
4g.1001716G>CCA438057224IDUAc.627G>C (p.Leu209=)
n.683G>C
c.486G>C (p.Leu162=)
c.420G>C (p.Leu140=)
c.444G>C (p.Leu148=)
c.231G>C (p.Leu77=)
n.527G>C
n.715G>C
c.339G>C (p.Leu113=)
n.696G>C
c.-334G>C (n.-334G>C)
4g.1001716G=CA1433067743IDUAc.627G= (p.Leu209=)
n.683G=
c.486G= (p.Leu162=)
c.420G= (p.Leu140=)
c.444G= (p.Leu148=)
c.231G= (p.Leu77=)
n.527G=
n.715G=
c.339G= (p.Leu113=)
n.696G=
c.-334G= (n.-334G=)
4g.1001716G>TCA438057226IDUAc.627G>T (p.Leu209=)
n.683G>T
c.486G>T (p.Leu162=)
c.420G>T (p.Leu140=)
c.444G>T (p.Leu148=)
c.231G>T (p.Leu77=)
n.527G>T
n.715G>T
c.339G>T (p.Leu113=)
n.696G>T
c.-334G>T (n.-334G>T)
 gnomAD v4
4g.1001717C>ACA355961955IDUAc.628C>A (p.Arg210Ser)
n.684C>A
c.487C>A (p.Arg163Ser)
c.421C>A (p.Arg141Ser)
c.445C>A (p.Arg149Ser)
c.232C>A (p.Arg78Ser)
n.528C>A
n.716C>A
c.340C>A (p.Arg114Ser)
n.697C>A
c.-333C>A (n.-333C>A)
 gnomAD v4
4g.1001717C=CA1433067747IDUAc.628C= (p.Arg210=)
n.684C=
c.487C= (p.Arg163=)
c.421C= (p.Arg141=)
c.445C= (p.Arg149=)
c.232C= (p.Arg78=)
n.528C=
n.716C=
c.340C= (p.Arg114=)
n.697C=
c.-333C= (n.-333C=)
4g.1001717C>GCA355961956IDUAc.628C>G (p.Arg210Gly)
n.684C>G
c.487C>G (p.Arg163Gly)
c.421C>G (p.Arg141Gly)
c.445C>G (p.Arg149Gly)
c.232C>G (p.Arg78Gly)
n.528C>G
n.716C>G
c.340C>G (p.Arg114Gly)
n.697C>G
c.-333C>G (n.-333C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1001717C>TCA91167728IDUAc.628C>T (p.Arg210Cys)
n.684C>T
c.487C>T (p.Arg163Cys)
c.421C>T (p.Arg141Cys)
c.445C>T (p.Arg149Cys)
c.232C>T (p.Arg78Cys)
n.528C>T
n.716C>T
c.340C>T (p.Arg114Cys)
n.697C>T
c.-333C>T (n.-333C>T)
 dbSNP gnomAD v4 COSMIC
4g.1001717dupCA1058437602IDUAc.628dup (p.Arg210ProfsTer?)
n.684dup
c.487dup (p.Arg163ProfsTer?)
c.421dup (p.Arg141ProfsTer?)
c.445dup (p.Arg149ProfsTer?)
c.232dup (p.Arg78ProfsTer?)
n.528dup
n.716dup
c.340dup (p.Arg114ProfsTer?)
n.697dup
c.-333dup (n.-333dup)
 dbSNP
4g.1001718G>ACA2802037IDUAc.629G>A (p.Arg210His)
n.685G>A
c.488G>A (p.Arg163His)
c.422G>A (p.Arg141His)
c.446G>A (p.Arg149His)
c.233G>A (p.Arg78His)
n.529G>A
n.717G>A
c.341G>A (p.Arg114His)
n.698G>A
c.-332G>A (n.-332G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001718G>CCA355961957IDUAc.629G>C (p.Arg210Pro)
n.685G>C
c.488G>C (p.Arg163Pro)
c.422G>C (p.Arg141Pro)
c.446G>C (p.Arg149Pro)
c.233G>C (p.Arg78Pro)
n.529G>C
n.717G>C
c.341G>C (p.Arg114Pro)
n.698G>C
c.-332G>C (n.-332G>C)
4g.1001718G=CA1433067750IDUAc.629G= (p.Arg210=)
n.685G=
c.488G= (p.Arg163=)
c.422G= (p.Arg141=)
c.446G= (p.Arg149=)
c.233G= (p.Arg78=)
n.529G=
n.717G=
c.341G= (p.Arg114=)
n.698G=
c.-332G= (n.-332G=)
4g.1001718G>TCA355961958IDUAc.629G>T (p.Arg210Leu)
n.685G>T
c.488G>T (p.Arg163Leu)
c.422G>T (p.Arg141Leu)
c.446G>T (p.Arg149Leu)
c.233G>T (p.Arg78Leu)
n.529G>T
n.717G>T
c.341G>T (p.Arg114Leu)
n.698G>T
c.-332G>T (n.-332G>T)
4g.1001718_1001719delinsAGCA2697557037IDUAc.629_630delinsAG (p.Arg210Gln)
n.685_686delinsAG
c.488_489delinsAG (p.Arg163Gln)
c.422_423delinsAG (p.Arg141Gln)
c.446_447delinsAG (p.Arg149Gln)
c.233_234delinsAG (p.Arg78Gln)
n.529_530delinsAG
n.717_718delinsAG
c.341_342delinsAG (p.Arg114Gln)
n.698_699delinsAG
c.-332_-331delinsAG (n.-332_-331delinsAG)
 ClinVar
4g.1001718_1001719delinsGCCA1433067752IDUAc.629_630delinsGC (p.Arg210=)
n.685_686delinsGC
c.488_489delinsGC (p.Arg163=)
c.422_423delinsGC (p.Arg141=)
c.446_447delinsGC (p.Arg149=)
c.233_234delinsGC (p.Arg78=)
n.529_530delinsGC
n.717_718delinsGC
c.341_342delinsGC (p.Arg114=)
n.698_699delinsGC
c.-332_-331delinsGC (n.-332_-331delinsGC)
4g.1001719delCA549264464IDUAc.630del (p.Ala211ProfsTer23)
n.686del
c.489del (p.Ala164ProfsTer23)
c.423del (p.Ala142ProfsTer23)
c.447del (p.Ala150ProfsTer23)
c.234del (p.Ala79ProfsTer23)
n.530del
n.718del
c.342del (p.Ala115ProfsTer23)
n.699del
c.-331del (n.-331del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1001719C>ACA438057232IDUAc.630C>A (p.Arg210=)
n.686C>A
c.489C>A (p.Arg163=)
c.423C>A (p.Arg141=)
c.447C>A (p.Arg149=)
c.234C>A (p.Arg78=)
n.530C>A
n.718C>A
c.342C>A (p.Arg114=)
n.699C>A
c.-331C>A (n.-331C>A)
 gnomAD v4
4g.1001719C=CA1433067764IDUAc.630C= (p.Arg210=)
n.686C=
c.489C= (p.Arg163=)
c.423C= (p.Arg141=)
c.447C= (p.Arg149=)
c.234C= (p.Arg78=)
n.530C=
n.718C=
c.342C= (p.Arg114=)
n.699C=
c.-331C= (n.-331C=)
4g.1001719C>GCA438057233IDUAc.630C>G (p.Arg210=)
n.686C>G
c.489C>G (p.Arg163=)
c.423C>G (p.Arg141=)
c.447C>G (p.Arg149=)
c.234C>G (p.Arg78=)
n.530C>G
n.718C>G
c.342C>G (p.Arg114=)
n.699C>G
c.-331C>G (n.-331C>G)
4g.1001719C>TCA2802038IDUAc.630C>T (p.Arg210=)
n.686C>T
c.489C>T (p.Arg163=)
c.423C>T (p.Arg141=)
c.447C>T (p.Arg149=)
c.234C>T (p.Arg78=)
n.530C>T
n.718C>T
c.342C>T (p.Arg114=)
n.699C>T
c.-331C>T (n.-331C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.1001720G>ACA355961961IDUAc.631G>A (p.Ala211Thr)
n.687G>A
c.490G>A (p.Ala164Thr)
c.424G>A (p.Ala142Thr)
c.448G>A (p.Ala150Thr)
c.235G>A (p.Ala79Thr)
n.531G>A
n.719G>A
c.343G>A (p.Ala115Thr)
n.700G>A
c.-330G>A (n.-330G>A)
 dbSNP gnomAD v4
4g.1001720G>CCA355961960IDUAc.631G>C (p.Ala211Pro)
n.687G>C
c.490G>C (p.Ala164Pro)
c.424G>C (p.Ala142Pro)
c.448G>C (p.Ala150Pro)
c.235G>C (p.Ala79Pro)
n.531G>C
n.719G>C
c.343G>C (p.Ala115Pro)
n.700G>C
c.-330G>C (n.-330G>C)
 gnomAD v4
4g.1001720G=CA1433067768IDUAc.631G= (p.Ala211=)
n.687G=
c.490G= (p.Ala164=)
c.424G= (p.Ala142=)
c.448G= (p.Ala150=)
c.235G= (p.Ala79=)
n.531G=
n.719G=
c.343G= (p.Ala115=)
n.700G=
c.-330G= (n.-330G=)
4g.1001720G>TCA355961959IDUAc.631G>T (p.Ala211Ser)
n.687G>T
c.490G>T (p.Ala164Ser)
c.424G>T (p.Ala142Ser)
c.448G>T (p.Ala150Ser)
c.235G>T (p.Ala79Ser)
n.531G>T
n.719G>T
c.343G>T (p.Ala115Ser)
n.700G>T
c.-330G>T (n.-330G>T)
 dbSNP gnomAD v2 gnomAD v4
4g.1001720dupCA913108032IDUAc.631dup (p.Ala211GlyfsTer?)
n.687dup
c.490dup (p.Ala164GlyfsTer?)
c.424dup (p.Ala142GlyfsTer?)
c.448dup (p.Ala150GlyfsTer?)
c.235dup (p.Ala79GlyfsTer?)
n.531dup
n.719dup
c.343dup (p.Ala115GlyfsTer?)
n.700dup
c.-330dup (n.-330dup)
4g.1001721C>ACA355961962IDUAc.632C>A (p.Ala211Asp)
n.688C>A
c.491C>A (p.Ala164Asp)
c.425C>A (p.Ala142Asp)
c.449C>A (p.Ala150Asp)
c.236C>A (p.Ala79Asp)
n.532C>A
n.720C>A
c.344C>A (p.Ala115Asp)
n.701C>A
c.-329C>A (n.-329C>A)
4g.1001721C>GCA355961963IDUAc.632C>G (p.Ala211Gly)
n.688C>G
c.491C>G (p.Ala164Gly)
c.425C>G (p.Ala142Gly)
c.449C>G (p.Ala150Gly)
c.236C>G (p.Ala79Gly)
n.532C>G
n.720C>G
c.344C>G (p.Ala115Gly)
n.701C>G
c.-329C>G (n.-329C>G)
4g.1001721C>TCA355961964IDUAc.632C>T (p.Ala211Val)
n.688C>T
c.491C>T (p.Ala164Val)
c.425C>T (p.Ala142Val)
c.449C>T (p.Ala150Val)
c.236C>T (p.Ala79Val)
n.532C>T
n.720C>T
c.344C>T (p.Ala115Val)
n.701C>T
c.-329C>T (n.-329C>T)
 gnomAD v4
4g.1001726_1001734dupCA2802039IDUAc.637_645dup (p.Ala215_Leu216insSerProAla)
n.693_701dup
c.496_504dup (p.Ala168_Leu169insSerProAla)
c.430_438dup (p.Ala146_Leu147insSerProAla)
c.454_462dup (p.Ala154_Leu155insSerProAla)
c.241_249dup (p.Ala83_Leu84insSerProAla)
n.537_545dup
n.725_733dup
c.349_357dup (p.Ala119_Leu120insSerProAla)
n.706_714dup
c.-324_-316dup (n.-324_-316dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001722C>ACA438057237IDUAc.633C>A (p.Ala211=)
n.689C>A
c.492C>A (p.Ala164=)
c.426C>A (p.Ala142=)
c.450C>A (p.Ala150=)
c.237C>A (p.Ala79=)
n.533C>A
n.721C>A
c.345C>A (p.Ala115=)
n.702C>A
c.-328C>A (n.-328C>A)
 gnomAD v4
4g.1001722C>GCA438057238IDUAc.633C>G (p.Ala211=)
n.689C>G
c.492C>G (p.Ala164=)
c.426C>G (p.Ala142=)
c.450C>G (p.Ala150=)
c.237C>G (p.Ala79=)
n.533C>G
n.721C>G
c.345C>G (p.Ala115=)
n.702C>G
c.-328C>G (n.-328C>G)
4g.1001722C>TCA438057239IDUAc.633C>T (p.Ala211=)
n.689C>T
c.492C>T (p.Ala164=)
c.426C>T (p.Ala142=)
c.450C>T (p.Ala150=)
c.237C>T (p.Ala79=)
n.533C>T
n.721C>T
c.345C>T (p.Ala115=)
n.702C>T
c.-328C>T (n.-328C>T)
 ClinVar
4g.1001723G>ACA355961965IDUAc.634G>A (p.Ala212Thr)
n.690G>A
c.493G>A (p.Ala165Thr)
c.427G>A (p.Ala143Thr)
c.451G>A (p.Ala151Thr)
c.238G>A (p.Ala80Thr)
n.534G>A
n.722G>A
c.346G>A (p.Ala116Thr)
n.703G>A
c.-327G>A (n.-327G>A)
 gnomAD v4
4g.1001723G>CCA355961966IDUAc.634G>C (p.Ala212Pro)
n.690G>C
c.493G>C (p.Ala165Pro)
c.427G>C (p.Ala143Pro)
c.451G>C (p.Ala151Pro)
c.238G>C (p.Ala80Pro)
n.534G>C
n.722G>C
c.346G>C (p.Ala116Pro)
n.703G>C
c.-327G>C (n.-327G>C)
4g.1001723G>TCA355961967IDUAc.634G>T (p.Ala212Ser)
n.690G>T
c.493G>T (p.Ala165Ser)
c.427G>T (p.Ala143Ser)
c.451G>T (p.Ala151Ser)
c.238G>T (p.Ala80Ser)
n.534G>T
n.722G>T
c.346G>T (p.Ala116Ser)
n.703G>T
c.-327G>T (n.-327G>T)
4g.1001724C>ACA355961968IDUAc.635C>A (p.Ala212Asp)
n.691C>A
c.494C>A (p.Ala165Asp)
c.428C>A (p.Ala143Asp)
c.452C>A (p.Ala151Asp)
c.239C>A (p.Ala80Asp)
n.535C>A
n.723C>A
c.347C>A (p.Ala116Asp)
n.704C>A
c.-326C>A (n.-326C>A)
4g.1001724C>GCA355961969IDUAc.635C>G (p.Ala212Gly)
n.691C>G
c.494C>G (p.Ala165Gly)
c.428C>G (p.Ala143Gly)
c.452C>G (p.Ala151Gly)
c.239C>G (p.Ala80Gly)
n.535C>G
n.723C>G
c.347C>G (p.Ala116Gly)
n.704C>G
c.-326C>G (n.-326C>G)
4g.1001724C>TCA355961970IDUAc.635C>T (p.Ala212Val)
n.691C>T
c.494C>T (p.Ala165Val)
c.428C>T (p.Ala143Val)
c.452C>T (p.Ala151Val)
c.239C>T (p.Ala80Val)
n.535C>T
n.723C>T
c.347C>T (p.Ala116Val)
n.704C>T
c.-326C>T (n.-326C>T)
4g.1001725C>ACA438057240IDUAc.636C>A (p.Ala212=)
n.692C>A
c.495C>A (p.Ala165=)
c.429C>A (p.Ala143=)
c.453C>A (p.Ala151=)
c.240C>A (p.Ala80=)
n.536C>A
n.724C>A
c.348C>A (p.Ala116=)
n.705C>A
c.-325C>A (n.-325C>A)
4g.1001725C>GCA438057241IDUAc.636C>G (p.Ala212=)
n.692C>G
c.495C>G (p.Ala165=)
c.429C>G (p.Ala143=)
c.453C>G (p.Ala151=)
c.240C>G (p.Ala80=)
n.536C>G
n.724C>G
c.348C>G (p.Ala116=)
n.705C>G
c.-325C>G (n.-325C>G)
4g.1001725C>TCA438057242IDUAc.636C>T (p.Ala212=)
n.692C>T
c.495C>T (p.Ala165=)
c.429C>T (p.Ala143=)
c.453C>T (p.Ala151=)
c.240C>T (p.Ala80=)
n.536C>T
n.724C>T
c.348C>T (p.Ala116=)
n.705C>T
c.-325C>T (n.-325C>T)
 gnomAD v4
4g.1001726A>CCA355961971IDUAc.637A>C (p.Ser213Arg)
n.693A>C
c.496A>C (p.Ser166Arg)
c.430A>C (p.Ser144Arg)
c.454A>C (p.Ser152Arg)
c.241A>C (p.Ser81Arg)
n.537A>C
n.725A>C
c.349A>C (p.Ser117Arg)
n.706A>C
c.-324A>C (n.-324A>C)
4g.1001726A>GCA355961972IDUAc.637A>G (p.Ser213Gly)
n.693A>G
c.496A>G (p.Ser166Gly)
c.430A>G (p.Ser144Gly)
c.454A>G (p.Ser152Gly)
c.241A>G (p.Ser81Gly)
n.537A>G
n.725A>G
c.349A>G (p.Ser117Gly)
n.706A>G
c.-324A>G (n.-324A>G)
4g.1001726A>TCA355961973IDUAc.637A>T (p.Ser213Cys)
n.693A>T
c.496A>T (p.Ser166Cys)
c.430A>T (p.Ser144Cys)
c.454A>T (p.Ser152Cys)
c.241A>T (p.Ser81Cys)
n.537A>T
n.725A>T
c.349A>T (p.Ser117Cys)
n.706A>T
c.-324A>T (n.-324A>T)
4g.1001727G>ACA355961975IDUAc.638G>A (p.Ser213Asn)
n.694G>A
c.497G>A (p.Ser166Asn)
c.431G>A (p.Ser144Asn)
c.455G>A (p.Ser152Asn)
c.242G>A (p.Ser81Asn)
n.538G>A
n.726G>A
c.350G>A (p.Ser117Asn)
n.707G>A
c.-323G>A (n.-323G>A)
 gnomAD v4
4g.1001727G>CCA355961976IDUAc.638G>C (p.Ser213Thr)
n.694G>C
c.497G>C (p.Ser166Thr)
c.431G>C (p.Ser144Thr)
c.455G>C (p.Ser152Thr)
c.242G>C (p.Ser81Thr)
n.538G>C
n.726G>C
c.350G>C (p.Ser117Thr)
n.707G>C
c.-323G>C (n.-323G>C)
4g.1001727G=CA1433067775IDUAc.638G= (p.Ser213=)
n.694G=
c.497G= (p.Ser166=)
c.431G= (p.Ser144=)
c.455G= (p.Ser152=)
c.242G= (p.Ser81=)
n.538G=
n.726G=
c.350G= (p.Ser117=)
n.707G=
c.-323G= (n.-323G=)
4g.1001727G>TCA355961974IDUAc.638G>T (p.Ser213Ile)
n.694G>T
c.497G>T (p.Ser166Ile)
c.431G>T (p.Ser144Ile)
c.455G>T (p.Ser152Ile)
c.242G>T (p.Ser81Ile)
n.538G>T
n.726G>T
c.350G>T (p.Ser117Ile)
n.707G>T
c.-323G>T (n.-323G>T)
 gnomAD v4
4g.1001727dupCA913108033IDUAc.638dup (p.Ser213ArgfsTer?)
n.694dup
c.497dup (p.Ser166ArgfsTer?)
c.431dup (p.Ser144ArgfsTer?)
c.455dup (p.Ser152ArgfsTer?)
c.242dup (p.Ser81ArgfsTer?)
n.538dup
n.726dup
c.350dup (p.Ser117ArgfsTer?)
n.707dup
c.-323dup (n.-323dup)
4g.1001731_1001735delCA2573137566IDUAc.642_646del (p.Leu216AlafsTer?)
n.698_702del
c.501_505del (p.Leu169AlafsTer?)
c.435_439del (p.Leu147AlafsTer?)
c.459_463del (p.Leu155AlafsTer?)
c.246_250del (p.Leu84AlafsTer?)
n.542_546del
n.730_734del
c.354_358del (p.Leu120AlafsTer?)
n.711_715del
c.-319_-315del (n.-319_-315del)
 ClinVar dbSNP
4g.1001728C>ACA355961978IDUAc.639C>A (p.Ser213Arg)
n.695C>A
c.498C>A (p.Ser166Arg)
c.432C>A (p.Ser144Arg)
c.456C>A (p.Ser152Arg)
c.243C>A (p.Ser81Arg)
n.539C>A
n.727C>A
c.351C>A (p.Ser117Arg)
n.708C>A
c.-322C>A (n.-322C>A)
4g.1001728C=CA1433067781IDUAc.639C= (p.Ser213=)
n.695C=
c.498C= (p.Ser166=)
c.432C= (p.Ser144=)
c.456C= (p.Ser152=)
c.243C= (p.Ser81=)
n.539C=
n.727C=
c.351C= (p.Ser117=)
n.708C=
c.-322C= (n.-322C=)
4g.1001728C>GCA355961977IDUAc.639C>G (p.Ser213Arg)
n.695C>G
c.498C>G (p.Ser166Arg)
c.432C>G (p.Ser144Arg)
c.456C>G (p.Ser152Arg)
c.243C>G (p.Ser81Arg)
n.539C>G
n.727C>G
c.351C>G (p.Ser117Arg)
n.708C>G
c.-322C>G (n.-322C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1001728C>TCA438057246IDUAc.639C>T (p.Ser213=)
n.695C>T
c.498C>T (p.Ser166=)
c.432C>T (p.Ser144=)
c.456C>T (p.Ser152=)
c.243C>T (p.Ser81=)
n.539C>T
n.727C>T
c.351C>T (p.Ser117=)
n.708C>T
c.-322C>T (n.-322C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.1001731dupCA2586973528IDUAc.642dup (p.Ala215ArgfsTer?)
n.698dup
c.501dup (p.Ala168ArgfsTer?)
c.435dup (p.Ala146ArgfsTer?)
c.459dup (p.Ala154ArgfsTer?)
c.246dup (p.Ala83ArgfsTer?)
n.542dup
n.730dup
c.354dup (p.Ala119ArgfsTer?)
n.711dup
c.-319dup (n.-319dup)
4g.1001729_1001731dupCA2802040IDUAc.640_642dup (p.Pro214_Ala215insPro)
n.696_698dup
c.499_501dup (p.Pro167_Ala168insPro)
c.433_435dup (p.Pro145_Ala146insPro)
c.457_459dup (p.Pro153_Ala154insPro)
c.244_246dup (p.Pro82_Ala83insPro)
n.540_542dup
n.728_730dup
c.352_354dup (p.Pro118_Ala119insPro)
n.709_711dup
c.-321_-319dup (n.-321_-319dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001728_1001731dupCA2586973527IDUAc.639_642dup (p.Ala215ProfsTer?)
n.695_698dup
c.498_501dup (p.Ala168ProfsTer?)
c.432_435dup (p.Ala146ProfsTer?)
c.456_459dup (p.Ala154ProfsTer?)
c.243_246dup (p.Ala83ProfsTer?)
n.539_542dup
n.727_730dup
c.351_354dup (p.Ala119ProfsTer?)
n.708_711dup
c.-322_-319dup (n.-322_-319dup)
4g.1001731delCA2760125518IDUAc.642del (p.Ala215ProfsTer19)
n.698del
c.501del (p.Ala168ProfsTer19)
c.435del (p.Ala146ProfsTer19)
c.459del (p.Ala154ProfsTer19)
c.246del (p.Ala83ProfsTer19)
n.542del
n.730del
c.354del (p.Ala119ProfsTer19)
n.711del
c.-319del (n.-319del)
4g.1001729C>ACA355961979IDUAc.640C>A (p.Pro214Thr)
n.696C>A
c.499C>A (p.Pro167Thr)
c.433C>A (p.Pro145Thr)
c.457C>A (p.Pro153Thr)
c.244C>A (p.Pro82Thr)
n.540C>A
n.728C>A
c.352C>A (p.Pro118Thr)
n.709C>A
c.-321C>A (n.-321C>A)
4g.1001729C=CA1433067787IDUAc.640C= (p.Pro214=)
n.696C=
c.499C= (p.Pro167=)
c.433C= (p.Pro145=)
c.457C= (p.Pro153=)
c.244C= (p.Pro82=)
n.540C=
n.728C=
c.352C= (p.Pro118=)
n.709C=
c.-321C= (n.-321C=)
4g.1001729C>GCA355961980IDUAc.640C>G (p.Pro214Ala)
n.696C>G
c.499C>G (p.Pro167Ala)
c.433C>G (p.Pro145Ala)
c.457C>G (p.Pro153Ala)
c.244C>G (p.Pro82Ala)
n.540C>G
n.728C>G
c.352C>G (p.Pro118Ala)
n.709C>G
c.-321C>G (n.-321C>G)
4g.1001729C>TCA355961981IDUAc.640C>T (p.Pro214Ser)
n.696C>T
c.499C>T (p.Pro167Ser)
c.433C>T (p.Pro145Ser)
c.457C>T (p.Pro153Ser)
c.244C>T (p.Pro82Ser)
n.540C>T
n.728C>T
c.352C>T (p.Pro118Ser)
n.709C>T
c.-321C>T (n.-321C>T)
 dbSNP gnomAD v4
4g.1001730C>ACA355961982IDUAc.641C>A (p.Pro214His)
n.697C>A
c.500C>A (p.Pro167His)
c.434C>A (p.Pro145His)
c.458C>A (p.Pro153His)
c.245C>A (p.Pro82His)
n.541C>A
n.729C>A
c.353C>A (p.Pro118His)
n.710C>A
c.-320C>A (n.-320C>A)
4g.1001730C>GCA355961983IDUAc.641C>G (p.Pro214Arg)
n.697C>G
c.500C>G (p.Pro167Arg)
c.434C>G (p.Pro145Arg)
c.458C>G (p.Pro153Arg)
c.245C>G (p.Pro82Arg)
n.541C>G
n.729C>G
c.353C>G (p.Pro118Arg)
n.710C>G
c.-320C>G (n.-320C>G)
 ClinVar
4g.1001730C>TCA355961984IDUAc.641C>T (p.Pro214Leu)
n.697C>T
c.500C>T (p.Pro167Leu)
c.434C>T (p.Pro145Leu)
c.458C>T (p.Pro153Leu)
c.245C>T (p.Pro82Leu)
n.541C>T
n.729C>T
c.353C>T (p.Pro118Leu)
n.710C>T
c.-320C>T (n.-320C>T)
4g.1001731C>ACA2802041IDUAc.642C>A (p.Pro214=)
n.698C>A
c.501C>A (p.Pro167=)
c.435C>A (p.Pro145=)
c.459C>A (p.Pro153=)
c.246C>A (p.Pro82=)
n.542C>A
n.730C>A
c.354C>A (p.Pro118=)
n.711C>A
c.-319C>A (n.-319C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001731C=CA1433067792IDUAc.642C= (p.Pro214=)
n.698C=
c.501C= (p.Pro167=)
c.435C= (p.Pro145=)
c.459C= (p.Pro153=)
c.246C= (p.Pro82=)
n.542C=
n.730C=
c.354C= (p.Pro118=)
n.711C=
c.-319C= (n.-319C=)
4g.1001731C>GCA438057249IDUAc.642C>G (p.Pro214=)
n.698C>G
c.501C>G (p.Pro167=)
c.435C>G (p.Pro145=)
c.459C>G (p.Pro153=)
c.246C>G (p.Pro82=)
n.542C>G
n.730C>G
c.354C>G (p.Pro118=)
n.711C>G
c.-319C>G (n.-319C>G)
4g.1001731C>TCA438057250IDUAc.642C>T (p.Pro214=)
n.698C>T
c.501C>T (p.Pro167=)
c.435C>T (p.Pro145=)
c.459C>T (p.Pro153=)
c.246C>T (p.Pro82=)
n.542C>T
n.730C>T
c.354C>T (p.Pro118=)
n.711C>T
c.-319C>T (n.-319C>T)
 ClinVar gnomAD v4
4g.1001732G>ACA2802042IDUAc.643G>A (p.Ala215Thr)
n.699G>A
c.502G>A (p.Ala168Thr)
c.436G>A (p.Ala146Thr)
c.460G>A (p.Ala154Thr)
c.247G>A (p.Ala83Thr)
n.543G>A
n.731G>A
c.355G>A (p.Ala119Thr)
n.712G>A
c.-318G>A (n.-318G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001732G>CCA355961985IDUAc.643G>C (p.Ala215Pro)
n.699G>C
c.502G>C (p.Ala168Pro)
c.436G>C (p.Ala146Pro)
c.460G>C (p.Ala154Pro)
c.247G>C (p.Ala83Pro)
n.543G>C
n.731G>C
c.355G>C (p.Ala119Pro)
n.712G>C
c.-318G>C (n.-318G>C)
4g.1001732G=CA1433067796IDUAc.643G= (p.Ala215=)
n.699G=
c.502G= (p.Ala168=)
c.436G= (p.Ala146=)
c.460G= (p.Ala154=)
c.247G= (p.Ala83=)
n.543G=
n.731G=
c.355G= (p.Ala119=)
n.712G=
c.-318G= (n.-318G=)
4g.1001732G>TCA355961986IDUAc.643G>T (p.Ala215Ser)
n.699G>T
c.502G>T (p.Ala168Ser)
c.436G>T (p.Ala146Ser)
c.460G>T (p.Ala154Ser)
c.247G>T (p.Ala83Ser)
n.543G>T
n.731G>T
c.355G>T (p.Ala119Ser)
n.712G>T
c.-318G>T (n.-318G>T)
4g.1001733C>ACA355961989IDUAc.644C>A (p.Ala215Asp)
n.700C>A
c.503C>A (p.Ala168Asp)
c.437C>A (p.Ala146Asp)
c.461C>A (p.Ala154Asp)
c.248C>A (p.Ala83Asp)
n.544C>A
n.732C>A
c.356C>A (p.Ala119Asp)
n.713C>A
c.-317C>A (n.-317C>A)
4g.1001733C>GCA355961988IDUAc.644C>G (p.Ala215Gly)
n.700C>G
c.503C>G (p.Ala168Gly)
c.437C>G (p.Ala146Gly)
c.461C>G (p.Ala154Gly)
c.248C>G (p.Ala83Gly)
n.544C>G
n.732C>G
c.356C>G (p.Ala119Gly)
n.713C>G
c.-317C>G (n.-317C>G)
4g.1001733C>TCA355961987IDUAc.644C>T (p.Ala215Val)
n.700C>T
c.503C>T (p.Ala168Val)
c.437C>T (p.Ala146Val)
c.461C>T (p.Ala154Val)
c.248C>T (p.Ala83Val)
n.544C>T
n.732C>T
c.356C>T (p.Ala119Val)
n.713C>T
c.-317C>T (n.-317C>T)
4g.1001733_1001736delinsCCCTCA1433067799IDUAc.644_647delinsCCCT (p.Ala215=)
n.700_703delinsCCCT
c.503_506delinsCCCT (p.Ala168=)
c.437_440delinsCCCT (p.Ala146=)
c.461_464delinsCCCT (p.Ala154=)
c.248_251delinsCCCT (p.Ala83=)
n.544_547delinsCCCT
n.732_735delinsCCCT
c.356_359delinsCCCT (p.Ala119=)
n.713_716delinsCCCT
c.-317_-314delinsCCCT (n.-317_-314delinsCCCT)
4g.1001734C>ACA438057252IDUAc.645C>A (p.Ala215=)
n.701C>A
c.504C>A (p.Ala168=)
c.438C>A (p.Ala146=)
c.462C>A (p.Ala154=)
c.249C>A (p.Ala83=)
n.545C>A
n.733C>A
c.357C>A (p.Ala119=)
n.714C>A
c.-316C>A (n.-316C>A)
 gnomAD v4
4g.1001734C>GCA438057253IDUAc.645C>G (p.Ala215=)
n.701C>G
c.504C>G (p.Ala168=)
c.438C>G (p.Ala146=)
c.462C>G (p.Ala154=)
c.249C>G (p.Ala83=)
n.545C>G
n.733C>G
c.357C>G (p.Ala119=)
n.714C>G
c.-316C>G (n.-316C>G)
4g.1001734C>TCA438057254IDUAc.645C>T (p.Ala215=)
n.701C>T
c.504C>T (p.Ala168=)
c.438C>T (p.Ala146=)
c.462C>T (p.Ala154=)
c.249C>T (p.Ala83=)
n.545C>T
n.733C>T
c.357C>T (p.Ala119=)
n.714C>T
c.-316C>T (n.-316C>T)
4g.1001734_1001736delCA784303421IDUAc.645_647del (p.Leu216del)
n.701_703del
c.504_506del (p.Leu169del)
c.438_440del (p.Leu147del)
c.462_464del (p.Leu155del)
c.249_251del (p.Leu84del)
n.545_547del
n.733_735del
c.357_359del (p.Leu120del)
n.714_716del
c.-316_-314del (n.-316_-314del)
 dbSNP
4g.1001735C>ACA355961990IDUAc.646C>A (p.Leu216Met)
n.702C>A
c.505C>A (p.Leu169Met)
c.439C>A (p.Leu147Met)
c.463C>A (p.Leu155Met)
c.250C>A (p.Leu84Met)
n.546C>A
n.734C>A
c.358C>A (p.Leu120Met)
n.715C>A
c.-315C>A (n.-315C>A)
 gnomAD v4
4g.1001735C>GCA355961991IDUAc.646C>G (p.Leu216Val)
n.702C>G
c.505C>G (p.Leu169Val)
c.439C>G (p.Leu147Val)
c.463C>G (p.Leu155Val)
c.250C>G (p.Leu84Val)
n.546C>G
n.734C>G
c.358C>G (p.Leu120Val)
n.715C>G
c.-315C>G (n.-315C>G)
 dbSNP gnomAD v4
4g.1001735C>TCA438057255IDUAc.646C>T (p.Leu216=)
n.702C>T
c.505C>T (p.Leu169=)
c.439C>T (p.Leu147=)
c.463C>T (p.Leu155=)
c.250C>T (p.Leu84=)
n.546C>T
n.734C>T
c.358C>T (p.Leu120=)
n.715C>T
c.-315C>T (n.-315C>T)
4g.1001735_1001736insGCCTCCCCAGTGAAGAAGTTGGTACCGTCGCA2760125519IDUAc.646_647insGCCTCCCCAGTGAAGAAGTTGGTACCGTCG (p.Leu216delinsArgLeuProSerGluGluValGlyThrValVal)
n.702_703insGCCTCCCCAGTGAAGAAGTTGGTACCGTCG
c.505_506insGCCTCCCCAGTGAAGAAGTTGGTACCGTCG (p.Leu169delinsArgLeuProSerGluGluValGlyThrValVal)
c.439_440insGCCTCCCCAGTGAAGAAGTTGGTACCGTCG (p.Leu147delinsArgLeuProSerGluGluValGlyThrValVal)
c.463_464insGCCTCCCCAGTGAAGAAGTTGGTACCGTCG (p.Leu155delinsArgLeuProSerGluGluValGlyThrValVal)
c.250_251insGCCTCCCCAGTGAAGAAGTTGGTACCGTCG (p.Leu84delinsArgLeuProSerGluGluValGlyThrValVal)
n.546_547insGCCTCCCCAGTGAAGAAGTTGGTACCGTCG
n.734_735insGCCTCCCCAGTGAAGAAGTTGGTACCGTCG
c.358_359insGCCTCCCCAGTGAAGAAGTTGGTACCGTCG (p.Leu120delinsArgLeuProSerGluGluValGlyThrValVal)
n.715_716insGCCTCCCCAGTGAAGAAGTTGGTACCGTCG
c.-315_-314insGCCTCCCCAGTGAAGAAGTTGGTACCGTCG (n.-315_-314insGCCTCCCCAGTGAAGAAGTTGGTACCGTCG)
4g.1001736T>ACA355961992IDUAc.647T>A (p.Leu216Gln)
n.703T>A
c.506T>A (p.Leu169Gln)
c.440T>A (p.Leu147Gln)
c.464T>A (p.Leu155Gln)
c.251T>A (p.Leu84Gln)
n.547T>A
n.735T>A
c.359T>A (p.Leu120Gln)
n.716T>A
c.-314T>A (n.-314T>A)
 gnomAD v4
4g.1001736T>CCA2802043IDUAc.647T>C (p.Leu216Pro)
n.703T>C
c.506T>C (p.Leu169Pro)
c.440T>C (p.Leu147Pro)
c.464T>C (p.Leu155Pro)
c.251T>C (p.Leu84Pro)
n.547T>C
n.735T>C
c.359T>C (p.Leu120Pro)
n.716T>C
c.-314T>C (n.-314T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001736T>GCA355961993IDUAc.647T>G (p.Leu216Arg)
n.703T>G
c.506T>G (p.Leu169Arg)
c.440T>G (p.Leu147Arg)
c.464T>G (p.Leu155Arg)
c.251T>G (p.Leu84Arg)
n.547T>G
n.735T>G
c.359T>G (p.Leu120Arg)
n.716T>G
c.-314T>G (n.-314T>G)
4g.1001736T=CA1433067804IDUAc.647T= (p.Leu216=)
n.703T=
c.506T= (p.Leu169=)
c.440T= (p.Leu147=)
c.464T= (p.Leu155=)
c.251T= (p.Leu84=)
n.547T=
n.735T=
c.359T= (p.Leu120=)
n.716T=
c.-314T= (n.-314T=)
4g.1001736_1001753delinsTGCGGCTGGGAGGCCCCGCA1433067807IDUAc.647_664delinsTGCGGCTGGGAGGCCCCG (p.Leu216=)
n.703_720delinsTGCGGCTGGGAGGCCCCG
c.506_523delinsTGCGGCTGGGAGGCCCCG (p.Leu169=)
c.440_457delinsTGCGGCTGGGAGGCCCCG (p.Leu147=)
c.464_481delinsTGCGGCTGGGAGGCCCCG (p.Leu155=)
c.251_268delinsTGCGGCTGGGAGGCCCCG (p.Leu84=)
n.547_564delinsTGCGGCTGGGAGGCCCCG
n.735_752delinsTGCGGCTGGGAGGCCCCG
c.359_376delinsTGCGGCTGGGAGGCCCCG (p.Leu120=)
n.716_733delinsTGCGGCTGGGAGGCCCCG
c.-314_-297delinsTGCGGCTGGGAGGCCCCG (n.-314_-297delinsTGCGGCTGGGAGGCCCCG)
4g.1001737G>ACA438057256IDUAc.648G>A (p.Leu216=)
n.704G>A
c.507G>A (p.Leu169=)
c.441G>A (p.Leu147=)
c.465G>A (p.Leu155=)
c.252G>A (p.Leu84=)
n.548G>A
n.736G>A
c.360G>A (p.Leu120=)
n.717G>A
c.-313G>A (n.-313G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.1001737G>CCA438057257IDUAc.648G>C (p.Leu216=)
n.704G>C
c.507G>C (p.Leu169=)
c.441G>C (p.Leu147=)
c.465G>C (p.Leu155=)
c.252G>C (p.Leu84=)
n.548G>C
n.736G>C
c.360G>C (p.Leu120=)
n.717G>C
c.-313G>C (n.-313G>C)
4g.1001737G=CA1433067809IDUAc.648G= (p.Leu216=)
n.704G=
c.507G= (p.Leu169=)
c.441G= (p.Leu147=)
c.465G= (p.Leu155=)
c.252G= (p.Leu84=)
n.548G=
n.736G=
c.360G= (p.Leu120=)
n.717G=
c.-313G= (n.-313G=)
4g.1001737G>TCA438057258IDUAc.648G>T (p.Leu216=)
n.704G>T
c.507G>T (p.Leu169=)
c.441G>T (p.Leu147=)
c.465G>T (p.Leu155=)
c.252G>T (p.Leu84=)
n.548G>T
n.736G>T
c.360G>T (p.Leu120=)
n.717G>T
c.-313G>T (n.-313G>T)
4g.1001740_1001756delCA549264505IDUAc.651_667del (p.Gly219LeufsTer?)
n.707_723del
c.510_526del (p.Gly172LeufsTer?)
c.444_460del (p.Gly150LeufsTer?)
c.468_484del (p.Gly158LeufsTer?)
c.255_271del (p.Gly87LeufsTer?)
n.551_567del
n.739_755del
c.363_379del (p.Gly123LeufsTer?)
n.720_736del
c.-310_-294del (n.-310_-294del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1001738C>ACA438057259IDUAc.649C>A (p.Arg217=)
n.705C>A
c.508C>A (p.Arg170=)
c.442C>A (p.Arg148=)
c.466C>A (p.Arg156=)
c.253C>A (p.Arg85=)
n.549C>A
n.737C>A
c.361C>A (p.Arg121=)
n.718C>A
c.-312C>A (n.-312C>A)
 ClinVar dbSNP gnomAD v4
4g.1001738C=CA1433067813IDUAc.649C= (p.Arg217=)
n.705C=
c.508C= (p.Arg170=)
c.442C= (p.Arg148=)
c.466C= (p.Arg156=)
c.253C= (p.Arg85=)
n.549C=
n.737C=
c.361C= (p.Arg121=)
n.718C=
c.-312C= (n.-312C=)
4g.1001738C>GCA355961994IDUAc.649C>G (p.Arg217Gly)
n.705C>G
c.508C>G (p.Arg170Gly)
c.442C>G (p.Arg148Gly)
c.466C>G (p.Arg156Gly)
c.253C>G (p.Arg85Gly)
n.549C>G
n.737C>G
c.361C>G (p.Arg121Gly)
n.718C>G
c.-312C>G (n.-312C>G)
4g.1001738C>TCA355961995IDUAc.649C>T (p.Arg217Trp)
n.705C>T
c.508C>T (p.Arg170Trp)
c.442C>T (p.Arg148Trp)
c.466C>T (p.Arg156Trp)
c.253C>T (p.Arg85Trp)
n.549C>T
n.737C>T
c.361C>T (p.Arg121Trp)
n.718C>T
c.-312C>T (n.-312C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1001739G>ACA355961996IDUAc.650G>A (p.Arg217Gln)
n.706G>A
c.509G>A (p.Arg170Gln)
c.443G>A (p.Arg148Gln)
c.467G>A (p.Arg156Gln)
c.254G>A (p.Arg85Gln)
n.550G>A
n.738G>A
c.362G>A (p.Arg121Gln)
n.719G>A
c.-311G>A (n.-311G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1001739G>CCA355961997IDUAc.650G>C (p.Arg217Pro)
n.706G>C
c.509G>C (p.Arg170Pro)
c.443G>C (p.Arg148Pro)
c.467G>C (p.Arg156Pro)
c.254G>C (p.Arg85Pro)
n.550G>C
n.738G>C
c.362G>C (p.Arg121Pro)
n.719G>C
c.-311G>C (n.-311G>C)
 gnomAD v4
4g.1001739G=CA1433067817IDUAc.650G= (p.Arg217=)
n.706G=
c.509G= (p.Arg170=)
c.443G= (p.Arg148=)
c.467G= (p.Arg156=)
c.254G= (p.Arg85=)
n.550G=
n.738G=
c.362G= (p.Arg121=)
n.719G=
c.-311G= (n.-311G=)
4g.1001739G>TCA355961998IDUAc.650G>T (p.Arg217Leu)
n.706G>T
c.509G>T (p.Arg170Leu)
c.443G>T (p.Arg148Leu)
c.467G>T (p.Arg156Leu)
c.254G>T (p.Arg85Leu)
n.550G>T
n.738G>T
c.362G>T (p.Arg121Leu)
n.719G>T
c.-311G>T (n.-311G>T)
 gnomAD v4
4g.1001740G>ACA438057262IDUAc.651G>A (p.Arg217=)
n.707G>A
c.510G>A (p.Arg170=)
c.444G>A (p.Arg148=)
c.468G>A (p.Arg156=)
c.255G>A (p.Arg85=)
n.551G>A
n.739G>A
c.363G>A (p.Arg121=)
n.720G>A
c.-310G>A (n.-310G>A)
 ClinVar
4g.1001740G>CCA438057263IDUAc.651G>C (p.Arg217=)
n.707G>C
c.510G>C (p.Arg170=)
c.444G>C (p.Arg148=)
c.468G>C (p.Arg156=)
c.255G>C (p.Arg85=)
n.551G>C
n.739G>C
c.363G>C (p.Arg121=)
n.720G>C
c.-310G>C (n.-310G>C)
4g.1001740G=CA1433067819IDUAc.651G= (p.Arg217=)
n.707G=
c.510G= (p.Arg170=)
c.444G= (p.Arg148=)
c.468G= (p.Arg156=)
c.255G= (p.Arg85=)
n.551G=
n.739G=
c.363G= (p.Arg121=)
n.720G=
c.-310G= (n.-310G=)
4g.1001740G>TCA438057264IDUAc.651G>T (p.Arg217=)
n.707G>T
c.510G>T (p.Arg170=)
c.444G>T (p.Arg148=)
c.468G>T (p.Arg156=)
c.255G>T (p.Arg85=)
n.551G>T
n.739G>T
c.363G>T (p.Arg121=)
n.720G>T
c.-310G>T (n.-310G>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.1001741delCA2586965939IDUAc.652del (p.Leu218TrpfsTer16)
n.708del
c.511del (p.Leu171TrpfsTer16)
c.445del (p.Leu149TrpfsTer16)
c.469del (p.Leu157TrpfsTer16)
c.256del (p.Leu86TrpfsTer16)
n.552del
n.740del
c.364del (p.Leu122TrpfsTer16)
n.721del
c.-309del (n.-309del)
4g.1001741C>ACA355961999IDUAc.652C>A (p.Leu218Met)
n.708C>A
c.511C>A (p.Leu171Met)
c.445C>A (p.Leu149Met)
c.469C>A (p.Leu157Met)
c.256C>A (p.Leu86Met)
n.552C>A
n.740C>A
c.364C>A (p.Leu122Met)
n.721C>A
c.-309C>A (n.-309C>A)
 gnomAD v4
4g.1001741C>GCA355962000IDUAc.652C>G (p.Leu218Val)
n.708C>G
c.511C>G (p.Leu171Val)
c.445C>G (p.Leu149Val)
c.469C>G (p.Leu157Val)
c.256C>G (p.Leu86Val)
n.552C>G
n.740C>G
c.364C>G (p.Leu122Val)
n.721C>G
c.-309C>G (n.-309C>G)
4g.1001741C>TCA438057265IDUAc.652C>T (p.Leu218=)
n.708C>T
c.511C>T (p.Leu171=)
c.445C>T (p.Leu149=)
c.469C>T (p.Leu157=)
c.256C>T (p.Leu86=)
n.552C>T
n.740C>T
c.364C>T (p.Leu122=)
n.721C>T
c.-309C>T (n.-309C>T)
4g.1001742T>ACA355962002IDUAc.653T>A (p.Leu218Gln)
n.709T>A
c.512T>A (p.Leu171Gln)
c.446T>A (p.Leu149Gln)
c.470T>A (p.Leu157Gln)
c.257T>A (p.Leu86Gln)
n.553T>A
n.741T>A
c.365T>A (p.Leu122Gln)
n.722T>A
c.-308T>A (n.-308T>A)
4g.1001742T>CCA356986IDUAc.653T>C (p.Leu218Pro)
n.709T>C
c.512T>C (p.Leu171Pro)
c.446T>C (p.Leu149Pro)
c.470T>C (p.Leu157Pro)
c.257T>C (p.Leu86Pro)
n.553T>C
n.741T>C
c.365T>C (p.Leu122Pro)
n.722T>C
c.-308T>C (n.-308T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1001742T>GCA355962001IDUAc.653T>G (p.Leu218Arg)
n.709T>G
c.512T>G (p.Leu171Arg)
c.446T>G (p.Leu149Arg)
c.470T>G (p.Leu157Arg)
c.257T>G (p.Leu86Arg)
n.553T>G
n.741T>G
c.365T>G (p.Leu122Arg)
n.722T>G
c.-308T>G (n.-308T>G)
4g.1001742T=CA1433067823IDUAc.653T= (p.Leu218=)
n.709T=
c.512T= (p.Leu171=)
c.446T= (p.Leu149=)
c.470T= (p.Leu157=)
c.257T= (p.Leu86=)
n.553T=
n.741T=
c.365T= (p.Leu122=)
n.722T=
c.-308T= (n.-308T=)
4g.1001743G>ACA438057267IDUAc.654G>A (p.Leu218=)
n.710G>A
c.513G>A (p.Leu171=)
c.447G>A (p.Leu149=)
c.471G>A (p.Leu157=)
c.258G>A (p.Leu86=)
n.554G>A
n.742G>A
c.366G>A (p.Leu122=)
n.723G>A
c.-307G>A (n.-307G>A)
 ClinVar gnomAD v4
4g.1001743G>CCA438057268IDUAc.654G>C (p.Leu218=)
n.710G>C
c.513G>C (p.Leu171=)
c.447G>C (p.Leu149=)
c.471G>C (p.Leu157=)
c.258G>C (p.Leu86=)
n.554G>C
n.742G>C
c.366G>C (p.Leu122=)
n.723G>C
c.-307G>C (n.-307G>C)
4g.1001743G>TCA438057269IDUAc.654G>T (p.Leu218=)
n.710G>T
c.513G>T (p.Leu171=)
c.447G>T (p.Leu149=)
c.471G>T (p.Leu157=)
c.258G>T (p.Leu86=)
n.554G>T
n.742G>T
c.366G>T (p.Leu122=)
n.723G>T
c.-307G>T (n.-307G>T)
 gnomAD v4
4g.1001745dupCA2586965940IDUAc.656dup (p.Gly220ArgfsTer?)
n.712dup
c.515dup (p.Gly173ArgfsTer?)
c.449dup (p.Gly151ArgfsTer?)
c.473dup (p.Gly159ArgfsTer?)
c.260dup (p.Gly88ArgfsTer?)
n.556dup
n.744dup
c.368dup (p.Gly124ArgfsTer?)
n.725dup
c.-305dup (n.-305dup)
4g.1001744G>ACA355962003IDUAc.655G>A (p.Gly219Arg)
n.711G>A
c.514G>A (p.Gly172Arg)
c.448G>A (p.Gly150Arg)
c.472G>A (p.Gly158Arg)
c.259G>A (p.Gly87Arg)
n.555G>A
n.743G>A
c.367G>A (p.Gly123Arg)
n.724G>A
c.-306G>A (n.-306G>A)
 ClinVar gnomAD v4
4g.1001744G>CCA355962004IDUAc.655G>C (p.Gly219Arg)
n.711G>C
c.514G>C (p.Gly172Arg)
c.448G>C (p.Gly150Arg)
c.472G>C (p.Gly158Arg)
c.259G>C (p.Gly87Arg)
n.555G>C
n.743G>C
c.367G>C (p.Gly123Arg)
n.724G>C
c.-306G>C (n.-306G>C)
 ClinVar gnomAD v4
4g.1001744G>TCA355962005IDUAc.655G>T (p.Gly219Ter)
n.711G>T
c.514G>T (p.Gly172Ter)
c.448G>T (p.Gly150Ter)
c.472G>T (p.Gly158Ter)
c.259G>T (p.Gly87Ter)
n.555G>T
n.743G>T
c.367G>T (p.Gly123Ter)
n.724G>T
c.-306G>T (n.-306G>T)
 gnomAD v4
4g.1001745G>ACA355962006IDUAc.656G>A (p.Gly219Glu)
n.712G>A
c.515G>A (p.Gly172Glu)
c.449G>A (p.Gly150Glu)
c.473G>A (p.Gly158Glu)
c.260G>A (p.Gly87Glu)
n.556G>A
n.744G>A
c.368G>A (p.Gly123Glu)
n.725G>A
c.-305G>A (n.-305G>A)
 dbSNP
4g.1001745G>CCA355962007IDUAc.656G>C (p.Gly219Ala)
n.712G>C
c.515G>C (p.Gly172Ala)
c.449G>C (p.Gly150Ala)
c.473G>C (p.Gly158Ala)
c.260G>C (p.Gly87Ala)
n.556G>C
n.744G>C
c.368G>C (p.Gly123Ala)
n.725G>C
c.-305G>C (n.-305G>C)
 dbSNP gnomAD v3 gnomAD v4
4g.1001745G=CA1433067828IDUAc.656G= (p.Gly219=)
n.712G=
c.515G= (p.Gly172=)
c.449G= (p.Gly150=)
c.473G= (p.Gly158=)
c.260G= (p.Gly87=)
n.556G=
n.744G=
c.368G= (p.Gly123=)
n.725G=
c.-305G= (n.-305G=)
4g.1001745G>TCA355962008IDUAc.656G>T (p.Gly219Val)
n.712G>T
c.515G>T (p.Gly172Val)
c.449G>T (p.Gly150Val)
c.473G>T (p.Gly158Val)
c.260G>T (p.Gly87Val)
n.556G>T
n.744G>T
c.368G>T (p.Gly123Val)
n.725G>T
c.-305G>T (n.-305G>T)
4g.1001746delCA2586965941IDUAc.657del (p.Gly220AlafsTer14)
n.713del
c.516del (p.Gly173AlafsTer14)
c.450del (p.Gly151AlafsTer14)
c.474del (p.Gly159AlafsTer14)
c.261del (p.Gly88AlafsTer14)
n.557del
n.745del
c.369del (p.Gly124AlafsTer14)
n.726del
c.-304del (n.-304del)
4g.1001746A=CA1433067833IDUAc.657A= (p.Gly219=)
n.713A=
c.516A= (p.Gly172=)
c.450A= (p.Gly150=)
c.474A= (p.Gly158=)
c.261A= (p.Gly87=)
n.557A=
n.745A=
c.369A= (p.Gly123=)
n.726A=
c.-304A= (n.-304A=)
4g.1001746A>CCA438057270IDUAc.657A>C (p.Gly219=)
n.713A>C
c.516A>C (p.Gly172=)
c.450A>C (p.Gly150=)
c.474A>C (p.Gly158=)
c.261A>C (p.Gly87=)
n.557A>C
n.745A>C
c.369A>C (p.Gly123=)
n.726A>C
c.-304A>C (n.-304A>C)
 gnomAD v4
4g.1001746A>GCA2802044IDUAc.657A>G (p.Gly219=)
n.713A>G
c.516A>G (p.Gly172=)
c.450A>G (p.Gly150=)
c.474A>G (p.Gly158=)
c.261A>G (p.Gly87=)
n.557A>G
n.745A>G
c.369A>G (p.Gly123=)
n.726A>G
c.-304A>G (n.-304A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001746A>TCA438057271IDUAc.657A>T (p.Gly219=)
n.713A>T
c.516A>T (p.Gly172=)
c.450A>T (p.Gly150=)
c.474A>T (p.Gly158=)
c.261A>T (p.Gly87=)
n.557A>T
n.745A>T
c.369A>T (p.Gly123=)
n.726A>T
c.-304A>T (n.-304A>T)
4g.1001746_1001747delinsAGCA1433067832IDUAc.657_658delinsAG (p.Gly219=)
n.713_714delinsAG
c.516_517delinsAG (p.Gly172=)
c.450_451delinsAG (p.Gly150=)
c.474_475delinsAG (p.Gly158=)
c.261_262delinsAG (p.Gly87=)
n.557_558delinsAG
n.745_746delinsAG
c.369_370delinsAG (p.Gly123=)
n.726_727delinsAG
c.-304_-303delinsAG (n.-304_-303delinsAG)
4g.1001747G>ACA355962009IDUAc.658G>A (p.Gly220Ser)
n.714G>A
c.517G>A (p.Gly173Ser)
c.451G>A (p.Gly151Ser)
c.475G>A (p.Gly159Ser)
c.262G>A (p.Gly88Ser)
n.558G>A
n.746G>A
c.370G>A (p.Gly124Ser)
n.727G>A
c.-303G>A (n.-303G>A)
4g.1001747G>CCA355962010IDUAc.658G>C (p.Gly220Arg)
n.714G>C
c.517G>C (p.Gly173Arg)
c.451G>C (p.Gly151Arg)
c.475G>C (p.Gly159Arg)
c.262G>C (p.Gly88Arg)
n.558G>C
n.746G>C
c.370G>C (p.Gly124Arg)
n.727G>C
c.-303G>C (n.-303G>C)
4g.1001747G>TCA355962011IDUAc.658G>T (p.Gly220Cys)
n.714G>T
c.517G>T (p.Gly173Cys)
c.451G>T (p.Gly151Cys)
c.475G>T (p.Gly159Cys)
c.262G>T (p.Gly88Cys)
n.558G>T
n.746G>T
c.370G>T (p.Gly124Cys)
n.727G>T
c.-303G>T (n.-303G>T)
4g.1001748delCA2802045IDUAc.659del (p.Gly220AlafsTer14)
n.715del
c.518del (p.Gly173AlafsTer14)
c.452del (p.Gly151AlafsTer14)
c.476del (p.Gly159AlafsTer14)
c.263del (p.Gly88AlafsTer14)
n.559del
n.747del
c.371del (p.Gly124AlafsTer14)
n.728del
c.-302del (n.-302del)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001748G>ACA355962012IDUAc.659G>A (p.Gly220Asp)
n.715G>A
c.518G>A (p.Gly173Asp)
c.452G>A (p.Gly151Asp)
c.476G>A (p.Gly159Asp)
c.263G>A (p.Gly88Asp)
n.559G>A
n.747G>A
c.371G>A (p.Gly124Asp)
n.728G>A
c.-302G>A (n.-302G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.1001748G>CCA355962013IDUAc.659G>C (p.Gly220Ala)
n.715G>C
c.518G>C (p.Gly173Ala)
c.452G>C (p.Gly151Ala)
c.476G>C (p.Gly159Ala)
c.263G>C (p.Gly88Ala)
n.559G>C
n.747G>C
c.371G>C (p.Gly124Ala)
n.728G>C
c.-302G>C (n.-302G>C)
4g.1001748G=CA1433067838IDUAc.659G= (p.Gly220=)
n.715G=
c.518G= (p.Gly173=)
c.452G= (p.Gly151=)
c.476G= (p.Gly159=)
c.263G= (p.Gly88=)
n.559G=
n.747G=
c.371G= (p.Gly124=)
n.728G=
c.-302G= (n.-302G=)
4g.1001748G>TCA355962014IDUAc.659G>T (p.Gly220Val)
n.715G>T
c.518G>T (p.Gly173Val)
c.452G>T (p.Gly151Val)
c.476G>T (p.Gly159Val)
c.263G>T (p.Gly88Val)
n.559G>T
n.747G>T
c.371G>T (p.Gly124Val)
n.728G>T
c.-302G>T (n.-302G>T)
 dbSNP gnomAD v2 gnomAD v4
4g.1001749C>ACA438057273IDUAc.660C>A (p.Gly220=)
n.716C>A
c.519C>A (p.Gly173=)
c.453C>A (p.Gly151=)
c.477C>A (p.Gly159=)
c.264C>A (p.Gly88=)
n.560C>A
n.748C>A
c.372C>A (p.Gly124=)
n.729C>A
c.-301C>A (n.-301C>A)
 ClinVar gnomAD v4
4g.1001749C=CA1433067845IDUAc.660C= (p.Gly220=)
n.716C=
c.519C= (p.Gly173=)
c.453C= (p.Gly151=)
c.477C= (p.Gly159=)
c.264C= (p.Gly88=)
n.560C=
n.748C=
c.372C= (p.Gly124=)
n.729C=
c.-301C= (n.-301C=)
4g.1001749C>GCA2802046IDUAc.660C>G (p.Gly220=)
n.716C>G
c.519C>G (p.Gly173=)
c.453C>G (p.Gly151=)
c.477C>G (p.Gly159=)
c.264C>G (p.Gly88=)
n.560C>G
n.748C>G
c.372C>G (p.Gly124=)
n.729C>G
c.-301C>G (n.-301C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001749C>TCA2802047IDUAc.660C>T (p.Gly220=)
n.716C>T
c.519C>T (p.Gly173=)
c.453C>T (p.Gly151=)
c.477C>T (p.Gly159=)
c.264C>T (p.Gly88=)
n.560C>T
n.748C>T
c.372C>T (p.Gly124=)
n.729C>T
c.-301C>T (n.-301C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001752delCA2580070652IDUAc.663del (p.Gly222AlafsTer12)
n.719del
c.522del (p.Gly175AlafsTer12)
c.456del (p.Gly153AlafsTer12)
c.480del (p.Gly161AlafsTer12)
c.267del (p.Gly90AlafsTer12)
n.563del
n.751del
c.375del (p.Gly126AlafsTer12)
n.732del
c.-298del (n.-298del)
 ClinVar gnomAD v4
4g.1001750C>ACA355962015IDUAc.661C>A (p.Pro221Thr)
n.717C>A
c.520C>A (p.Pro174Thr)
c.454C>A (p.Pro152Thr)
c.478C>A (p.Pro160Thr)
c.265C>A (p.Pro89Thr)
n.561C>A
n.749C>A
c.373C>A (p.Pro125Thr)
n.730C>A
c.-300C>A (n.-300C>A)
4g.1001750C=CA1433067849IDUAc.661C= (p.Pro221=)
n.717C=
c.520C= (p.Pro174=)
c.454C= (p.Pro152=)
c.478C= (p.Pro160=)
c.265C= (p.Pro89=)
n.561C=
n.749C=
c.373C= (p.Pro125=)
n.730C=
c.-300C= (n.-300C=)
4g.1001750C>GCA355962016IDUAc.661C>G (p.Pro221Ala)
n.717C>G
c.520C>G (p.Pro174Ala)
c.454C>G (p.Pro152Ala)
c.478C>G (p.Pro160Ala)
c.265C>G (p.Pro89Ala)
n.561C>G
n.749C>G
c.373C>G (p.Pro125Ala)
n.730C>G
c.-300C>G (n.-300C>G)
 dbSNP
4g.1001750C>TCA355962017IDUAc.661C>T (p.Pro221Ser)
n.717C>T
c.520C>T (p.Pro174Ser)
c.454C>T (p.Pro152Ser)
c.478C>T (p.Pro160Ser)
c.265C>T (p.Pro89Ser)
n.561C>T
n.749C>T
c.373C>T (p.Pro125Ser)
n.730C>T
c.-300C>T (n.-300C>T)
4g.1001751C>ACA355962018IDUAc.662C>A (p.Pro221His)
n.718C>A
c.521C>A (p.Pro174His)
c.455C>A (p.Pro152His)
c.479C>A (p.Pro160His)
c.266C>A (p.Pro89His)
n.562C>A
n.750C>A
c.374C>A (p.Pro125His)
n.731C>A
c.-299C>A (n.-299C>A)
 gnomAD v4
4g.1001751C>GCA355962019IDUAc.662C>G (p.Pro221Arg)
n.718C>G
c.521C>G (p.Pro174Arg)
c.455C>G (p.Pro152Arg)
c.479C>G (p.Pro160Arg)
c.266C>G (p.Pro89Arg)
n.562C>G
n.750C>G
c.374C>G (p.Pro125Arg)
n.731C>G
c.-299C>G (n.-299C>G)
4g.1001751C>TCA355962020IDUAc.662C>T (p.Pro221Leu)
n.718C>T
c.521C>T (p.Pro174Leu)
c.455C>T (p.Pro152Leu)
c.479C>T (p.Pro160Leu)
c.266C>T (p.Pro89Leu)
n.562C>T
n.750C>T
c.374C>T (p.Pro125Leu)
n.731C>T
c.-299C>T (n.-299C>T)
4g.1001752C>ACA438057274IDUAc.663C>A (p.Pro221=)
n.719C>A
c.522C>A (p.Pro174=)
c.456C>A (p.Pro152=)
c.480C>A (p.Pro160=)
c.267C>A (p.Pro89=)
n.563C>A
n.751C>A
c.375C>A (p.Pro125=)
n.732C>A
c.-298C>A (n.-298C>A)
 gnomAD v4
4g.1001752C=CA1433067857IDUAc.663C= (p.Pro221=)
n.719C=
c.522C= (p.Pro174=)
c.456C= (p.Pro152=)
c.480C= (p.Pro160=)
c.267C= (p.Pro89=)
n.563C=
n.751C=
c.375C= (p.Pro125=)
n.732C=
c.-298C= (n.-298C=)
4g.1001752C>GCA2802048IDUAc.663C>G (p.Pro221=)
n.719C>G
c.522C>G (p.Pro174=)
c.456C>G (p.Pro152=)
c.480C>G (p.Pro160=)
c.267C>G (p.Pro89=)
n.563C>G
n.751C>G
c.375C>G (p.Pro125=)
n.732C>G
c.-298C>G (n.-298C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001752C>TCA438057275IDUAc.663C>T (p.Pro221=)
n.719C>T
c.522C>T (p.Pro174=)
c.456C>T (p.Pro152=)
c.480C>T (p.Pro160=)
c.267C>T (p.Pro89=)
n.563C>T
n.751C>T
c.375C>T (p.Pro125=)
n.732C>T
c.-298C>T (n.-298C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1001752_1001753dupCA2573052264IDUAc.663_664dup (p.Gly222AlafsTer13)
n.719_720dup
c.522_523dup (p.Gly175AlafsTer13)
c.456_457dup (p.Gly153AlafsTer13)
c.480_481dup (p.Gly161AlafsTer13)
c.267_268dup (p.Gly90AlafsTer13)
n.563_564dup
n.751_752dup
c.375_376dup (p.Gly126AlafsTer13)
n.732_733dup
c.-298_-297dup (n.-298_-297dup)
 dbSNP gnomAD v4
4g.1001754_1001756dupCA2586965942IDUAc.665_667dup (p.Gly222_Asp223insGly)
n.721_723dup
c.524_526dup (p.Gly175_Asp176insGly)
c.458_460dup (p.Gly153_Asp154insGly)
c.482_484dup (p.Gly161_Asp162insGly)
c.269_271dup (p.Gly90_Asp91insGly)
n.565_567dup
n.753_755dup
c.377_379dup (p.Gly126_Asp127insGly)
n.734_736dup
c.-296_-294dup (n.-296_-294dup)
4g.1001753G>ACA355962021IDUAc.664G>A (p.Gly222Ser)
n.720G>A
c.523G>A (p.Gly175Ser)
c.457G>A (p.Gly153Ser)
c.481G>A (p.Gly161Ser)
c.268G>A (p.Gly90Ser)
n.564G>A
n.752G>A
c.376G>A (p.Gly126Ser)
n.733G>A
c.-297G>A (n.-297G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1001753G>CCA355962023IDUAc.664G>C (p.Gly222Arg)
n.720G>C
c.523G>C (p.Gly175Arg)
c.457G>C (p.Gly153Arg)
c.481G>C (p.Gly161Arg)
c.268G>C (p.Gly90Arg)
n.564G>C
n.752G>C
c.376G>C (p.Gly126Arg)
n.733G>C
c.-297G>C (n.-297G>C)
4g.1001753G=CA1433067866IDUAc.664G= (p.Gly222=)
n.720G=
c.523G= (p.Gly175=)
c.457G= (p.Gly153=)
c.481G= (p.Gly161=)
c.268G= (p.Gly90=)
n.564G=
n.752G=
c.376G= (p.Gly126=)
n.733G=
c.-297G= (n.-297G=)
4g.1001753G>TCA355962022IDUAc.664G>T (p.Gly222Cys)
n.720G>T
c.523G>T (p.Gly175Cys)
c.457G>T (p.Gly153Cys)
c.481G>T (p.Gly161Cys)
c.268G>T (p.Gly90Cys)
n.564G>T
n.752G>T
c.376G>T (p.Gly126Cys)
n.733G>T
c.-297G>T (n.-297G>T)
 ClinVar dbSNP gnomAD v4
4g.1001754G>ACA355962024IDUAc.665G>A (p.Gly222Asp)
n.721G>A
c.524G>A (p.Gly175Asp)
c.458G>A (p.Gly153Asp)
c.482G>A (p.Gly161Asp)
c.269G>A (p.Gly90Asp)
n.565G>A
n.753G>A
c.377G>A (p.Gly126Asp)
n.734G>A
c.-296G>A (n.-296G>A)
 gnomAD v4
4g.1001754G>CCA355962025IDUAc.665G>C (p.Gly222Ala)
n.721G>C
c.524G>C (p.Gly175Ala)
c.458G>C (p.Gly153Ala)
c.482G>C (p.Gly161Ala)
c.269G>C (p.Gly90Ala)
n.565G>C
n.753G>C
c.377G>C (p.Gly126Ala)
n.734G>C
c.-296G>C (n.-296G>C)
4g.1001754G>TCA355962026IDUAc.665G>T (p.Gly222Val)
n.721G>T
c.524G>T (p.Gly175Val)
c.458G>T (p.Gly153Val)
c.482G>T (p.Gly161Val)
c.269G>T (p.Gly90Val)
n.565G>T
n.753G>T
c.377G>T (p.Gly126Val)
n.734G>T
c.-296G>T (n.-296G>T)
 gnomAD v4
4g.1001755C>ACA91167839IDUAc.666C>A (p.Gly222=)
n.722C>A
c.525C>A (p.Gly175=)
c.459C>A (p.Gly153=)
c.483C>A (p.Gly161=)
c.270C>A (p.Gly90=)
n.566C>A
n.754C>A
c.378C>A (p.Gly126=)
n.735C>A
c.-295C>A (n.-295C>A)
 dbSNP gnomAD v4
4g.1001755C=CA1433067869IDUAc.666C= (p.Gly222=)
n.722C=
c.525C= (p.Gly175=)
c.459C= (p.Gly153=)
c.483C= (p.Gly161=)
c.270C= (p.Gly90=)
n.566C=
n.754C=
c.378C= (p.Gly126=)
n.735C=
c.-295C= (n.-295C=)
4g.1001755C>GCA438057279IDUAc.666C>G (p.Gly222=)
n.722C>G
c.525C>G (p.Gly175=)
c.459C>G (p.Gly153=)
c.483C>G (p.Gly161=)
c.270C>G (p.Gly90=)
n.566C>G
n.754C>G
c.378C>G (p.Gly126=)
n.735C>G
c.-295C>G (n.-295C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.1001755C>TCA2802049IDUAc.666C>T (p.Gly222=)
n.722C>T
c.525C>T (p.Gly175=)
c.459C>T (p.Gly153=)
c.483C>T (p.Gly161=)
c.270C>T (p.Gly90=)
n.566C>T
n.754C>T
c.378C>T (p.Gly126=)
n.735C>T
c.-295C>T (n.-295C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001756_1001760delCA2586965943IDUAc.667_671del (p.Asp223LeufsTer?)
n.723_727del
c.526_530del (p.Asp176LeufsTer?)
c.460_464del (p.Asp154LeufsTer?)
c.484_488del (p.Asp162LeufsTer?)
c.271_275del (p.Asp91LeufsTer?)
n.567_571del
n.755_759del
c.379_383del (p.Asp127LeufsTer?)
n.736_740del
c.-294_-290del (n.-294_-290del)
4g.1001756G>ACA2802050IDUAc.667G>A (p.Asp223Asn)
n.723G>A
c.526G>A (p.Asp176Asn)
c.460G>A (p.Asp154Asn)
c.484G>A (p.Asp162Asn)
c.271G>A (p.Asp91Asn)
n.567G>A
n.755G>A
c.379G>A (p.Asp127Asn)
n.736G>A
c.-294G>A (n.-294G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001756G>CCA355962027IDUAc.667G>C (p.Asp223His)
n.723G>C
c.526G>C (p.Asp176His)
c.460G>C (p.Asp154His)
c.484G>C (p.Asp162His)
c.271G>C (p.Asp91His)
n.567G>C
n.755G>C
c.379G>C (p.Asp127His)
n.736G>C
c.-294G>C (n.-294G>C)
4g.1001756G=CA1433067877IDUAc.667G= (p.Asp223=)
n.723G=
c.526G= (p.Asp176=)
c.460G= (p.Asp154=)
c.484G= (p.Asp162=)
c.271G= (p.Asp91=)
n.567G=
n.755G=
c.379G= (p.Asp127=)
n.736G=
c.-294G= (n.-294G=)
4g.1001756G>TCA91167878IDUAc.667G>T (p.Asp223Tyr)
n.723G>T
c.526G>T (p.Asp176Tyr)
c.460G>T (p.Asp154Tyr)
c.484G>T (p.Asp162Tyr)
c.271G>T (p.Asp91Tyr)
n.567G>T
n.755G>T
c.379G>T (p.Asp127Tyr)
n.736G>T
c.-294G>T (n.-294G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.1001757A=CA1433067884IDUAc.668A= (p.Asp223=)
n.724A=
c.527A= (p.Asp176=)
c.461A= (p.Asp154=)
c.485A= (p.Asp162=)
c.272A= (p.Asp91=)
n.568A=
n.756A=
c.380A= (p.Asp127=)
n.737A=
c.-293A= (n.-293A=)
4g.1001757A>CCA355962028IDUAc.668A>C (p.Asp223Ala)
n.724A>C
c.527A>C (p.Asp176Ala)
c.461A>C (p.Asp154Ala)
c.485A>C (p.Asp162Ala)
c.272A>C (p.Asp91Ala)
n.568A>C
n.756A>C
c.380A>C (p.Asp127Ala)
n.737A>C
c.-293A>C (n.-293A>C)
 dbSNP
4g.1001757A>GCA355962030IDUAc.668A>G (p.Asp223Gly)
n.724A>G
c.527A>G (p.Asp176Gly)
c.461A>G (p.Asp154Gly)
c.485A>G (p.Asp162Gly)
c.272A>G (p.Asp91Gly)
n.568A>G
n.756A>G
c.380A>G (p.Asp127Gly)
n.737A>G
c.-293A>G (n.-293A>G)
4g.1001757A>TCA355962029IDUAc.668A>T (p.Asp223Val)
n.724A>T
c.527A>T (p.Asp176Val)
c.461A>T (p.Asp154Val)
c.485A>T (p.Asp162Val)
c.272A>T (p.Asp91Val)
n.568A>T
n.756A>T
c.380A>T (p.Asp127Val)
n.737A>T
c.-293A>T (n.-293A>T)
 gnomAD v4
4g.1001758C>ACA355962031IDUAc.669C>A (p.Asp223Glu)
n.725C>A
c.528C>A (p.Asp176Glu)
c.462C>A (p.Asp154Glu)
c.486C>A (p.Asp162Glu)
c.273C>A (p.Asp91Glu)
n.569C>A
n.757C>A
c.381C>A (p.Asp127Glu)
n.738C>A
c.-292C>A (n.-292C>A)
4g.1001758C=CA1433067886IDUAc.669C= (p.Asp223=)
n.725C=
c.528C= (p.Asp176=)
c.462C= (p.Asp154=)
c.486C= (p.Asp162=)
c.273C= (p.Asp91=)
n.569C=
n.757C=
c.381C= (p.Asp127=)
n.738C=
c.-292C= (n.-292C=)
4g.1001758C>GCA355962032IDUAc.669C>G (p.Asp223Glu)
n.725C>G
c.528C>G (p.Asp176Glu)
c.462C>G (p.Asp154Glu)
c.486C>G (p.Asp162Glu)
c.273C>G (p.Asp91Glu)
n.569C>G
n.757C>G
c.381C>G (p.Asp127Glu)
n.738C>G
c.-292C>G (n.-292C>G)
 ClinVar dbSNP gnomAD v4
4g.1001758C>TCA438057283IDUAc.669C>T (p.Asp223=)
n.725C>T
c.528C>T (p.Asp176=)
c.462C>T (p.Asp154=)
c.486C>T (p.Asp162=)
c.273C>T (p.Asp91=)
n.569C>T
n.757C>T
c.381C>T (p.Asp127=)
n.738C>T
c.-292C>T (n.-292C>T)
4g.1001759T>ACA355962033IDUAc.670T>A (p.Ser224Thr)
n.726T>A
c.529T>A (p.Ser177Thr)
c.463T>A (p.Ser155Thr)
c.487T>A (p.Ser163Thr)
c.274T>A (p.Ser92Thr)
n.570T>A
n.758T>A
c.382T>A (p.Ser128Thr)
n.739T>A
c.-291T>A (n.-291T>A)
4g.1001759T>CCA2802051IDUAc.670T>C (p.Ser224Pro)
n.726T>C
c.529T>C (p.Ser177Pro)
c.463T>C (p.Ser155Pro)
c.487T>C (p.Ser163Pro)
c.274T>C (p.Ser92Pro)
n.570T>C
n.758T>C
c.382T>C (p.Ser128Pro)
n.739T>C
c.-291T>C (n.-291T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001759T>GCA91167888IDUAc.670T>G (p.Ser224Ala)
n.726T>G
c.529T>G (p.Ser177Ala)
c.463T>G (p.Ser155Ala)
c.487T>G (p.Ser163Ala)
c.274T>G (p.Ser92Ala)
n.570T>G
n.758T>G
c.382T>G (p.Ser128Ala)
n.739T>G
c.-291T>G (n.-291T>G)
 dbSNP gnomAD v2 gnomAD v4
4g.1001759T=CA1433067889IDUAc.670T= (p.Ser224=)
n.726T=
c.529T= (p.Ser177=)
c.463T= (p.Ser155=)
c.487T= (p.Ser163=)
c.274T= (p.Ser92=)
n.570T=
n.758T=
c.382T= (p.Ser128=)
n.739T=
c.-291T= (n.-291T=)
4g.1001760C>ACA355962034IDUAc.671C>A (p.Ser224Tyr)
n.727C>A
c.530C>A (p.Ser177Tyr)
c.464C>A (p.Ser155Tyr)
c.488C>A (p.Ser163Tyr)
c.275C>A (p.Ser92Tyr)
n.571C>A
n.759C>A
c.383C>A (p.Ser128Tyr)
n.740C>A
c.-290C>A (n.-290C>A)
 gnomAD v4
4g.1001760C>GCA355962035IDUAc.671C>G (p.Ser224Cys)
n.727C>G
c.530C>G (p.Ser177Cys)
c.464C>G (p.Ser155Cys)
c.488C>G (p.Ser163Cys)
c.275C>G (p.Ser92Cys)
n.571C>G
n.759C>G
c.383C>G (p.Ser128Cys)
n.740C>G
c.-290C>G (n.-290C>G)
4g.1001760C>TCA355962036IDUAc.671C>T (p.Ser224Phe)
n.727C>T
c.530C>T (p.Ser177Phe)
c.464C>T (p.Ser155Phe)
c.488C>T (p.Ser163Phe)
c.275C>T (p.Ser92Phe)
n.571C>T
n.759C>T
c.383C>T (p.Ser128Phe)
n.740C>T
c.-290C>T (n.-290C>T)
 gnomAD v4
4g.1001761C>ACA438057287IDUAc.672C>A (p.Ser224=)
n.728C>A
c.531C>A (p.Ser177=)
c.465C>A (p.Ser155=)
c.489C>A (p.Ser163=)
c.276C>A (p.Ser92=)
n.572C>A
n.760C>A
c.384C>A (p.Ser128=)
n.741C>A
c.-289C>A (n.-289C>A)
4g.1001761C=CA1433067892IDUAc.672C= (p.Ser224=)
n.728C=
c.531C= (p.Ser177=)
c.465C= (p.Ser155=)
c.489C= (p.Ser163=)
c.276C= (p.Ser92=)
n.572C=
n.760C=
c.384C= (p.Ser128=)
n.741C=
c.-289C= (n.-289C=)
4g.1001761C>GCA438057288IDUAc.672C>G (p.Ser224=)
n.728C>G
c.531C>G (p.Ser177=)
c.465C>G (p.Ser155=)
c.489C>G (p.Ser163=)
c.276C>G (p.Ser92=)
n.572C>G
n.760C>G
c.384C>G (p.Ser128=)
n.741C>G
c.-289C>G (n.-289C>G)
4g.1001761C>TCA438057289IDUAc.672C>T (p.Ser224=)
n.728C>T
c.531C>T (p.Ser177=)
c.465C>T (p.Ser155=)
c.489C>T (p.Ser163=)
c.276C>T (p.Ser92=)
n.572C>T
n.760C>T
c.384C>T (p.Ser128=)
n.741C>T
c.-289C>T (n.-289C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.1001762T>ACA355962037IDUAc.673T>A (p.Phe225Ile)
n.729T>A
c.532T>A (p.Phe178Ile)
c.466T>A (p.Phe156Ile)
c.490T>A (p.Phe164Ile)
c.277T>A (p.Phe93Ile)
n.573T>A
n.761T>A
c.385T>A (p.Phe129Ile)
n.742T>A
c.-288T>A (n.-288T>A)
4g.1001762T>CCA355962038IDUAc.673T>C (p.Phe225Leu)
n.729T>C
c.532T>C (p.Phe178Leu)
c.466T>C (p.Phe156Leu)
c.490T>C (p.Phe164Leu)
c.277T>C (p.Phe93Leu)
n.573T>C
n.761T>C
c.385T>C (p.Phe129Leu)
n.742T>C
c.-288T>C (n.-288T>C)
4g.1001762T>GCA355962039IDUAc.673T>G (p.Phe225Val)
n.729T>G
c.532T>G (p.Phe178Val)
c.466T>G (p.Phe156Val)
c.490T>G (p.Phe164Val)
c.277T>G (p.Phe93Val)
n.573T>G
n.761T>G
c.385T>G (p.Phe129Val)
n.742T>G
c.-288T>G (n.-288T>G)
4g.1001763T>ACA355962040IDUAc.674T>A (p.Phe225Tyr)
n.730T>A
c.533T>A (p.Phe178Tyr)
c.467T>A (p.Phe156Tyr)
c.491T>A (p.Phe164Tyr)
c.278T>A (p.Phe93Tyr)
n.574T>A
n.762T>A
c.386T>A (p.Phe129Tyr)
n.743T>A
c.-287T>A (n.-287T>A)
4g.1001763T>CCA355962041IDUAc.674T>C (p.Phe225Ser)
n.730T>C
c.533T>C (p.Phe178Ser)
c.467T>C (p.Phe156Ser)
c.491T>C (p.Phe164Ser)
c.278T>C (p.Phe93Ser)
n.574T>C
n.762T>C
c.386T>C (p.Phe129Ser)
n.743T>C
c.-287T>C (n.-287T>C)
4g.1001763T>GCA355962042IDUAc.674T>G (p.Phe225Cys)
n.730T>G
c.533T>G (p.Phe178Cys)
c.467T>G (p.Phe156Cys)
c.491T>G (p.Phe164Cys)
c.278T>G (p.Phe93Cys)
n.574T>G
n.762T>G
c.386T>G (p.Phe129Cys)
n.743T>G
c.-287T>G (n.-287T>G)
4g.1001764C>ACA355962044IDUAc.675C>A (p.Phe225Leu)
n.731C>A
c.534C>A (p.Phe178Leu)
c.468C>A (p.Phe156Leu)
c.492C>A (p.Phe164Leu)
c.279C>A (p.Phe93Leu)
n.575C>A
n.763C>A
c.387C>A (p.Phe129Leu)
n.744C>A
c.-286C>A (n.-286C>A)
4g.1001764C=CA1433067894IDUAc.675C= (p.Phe225=)
n.731C=
c.534C= (p.Phe178=)
c.468C= (p.Phe156=)
c.492C= (p.Phe164=)
c.279C= (p.Phe93=)
n.575C=
n.763C=
c.387C= (p.Phe129=)
n.744C=
c.-286C= (n.-286C=)
4g.1001764C>GCA355962043IDUAc.675C>G (p.Phe225Leu)
n.731C>G
c.534C>G (p.Phe178Leu)
c.468C>G (p.Phe156Leu)
c.492C>G (p.Phe164Leu)
c.279C>G (p.Phe93Leu)
n.575C>G
n.763C>G
c.387C>G (p.Phe129Leu)
n.744C>G
c.-286C>G (n.-286C>G)
4g.1001764C>TCA2802052IDUAc.675C>T (p.Phe225=)
n.731C>T
c.534C>T (p.Phe178=)
c.468C>T (p.Phe156=)
c.492C>T (p.Phe164=)
c.279C>T (p.Phe93=)
n.575C>T
n.763C>T
c.387C>T (p.Phe129=)
n.744C>T
c.-286C>T (n.-286C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001764_1001766delinsTCA2580070653IDUAc.675_677delinsT (p.Thr227ProfsTer?)
n.731_733delinsT
c.534_536delinsT (p.Thr180ProfsTer?)
c.468_470delinsT (p.Thr158ProfsTer?)
c.492_494delinsT (p.Thr166ProfsTer?)
c.279_281delinsT (p.Thr95ProfsTer?)
n.575_577delinsT
n.763_765delinsT
c.387_389delinsT (p.Thr131ProfsTer?)
n.744_746delinsT
c.-286_-284delinsT (n.-286_-284delinsT)
 ClinVar
4g.1001765C>ACA355962045IDUAc.676C>A (p.His226Asn)
n.732C>A
c.535C>A (p.His179Asn)
c.469C>A (p.His157Asn)
c.493C>A (p.His165Asn)
c.280C>A (p.His94Asn)
n.576C>A
n.764C>A
c.388C>A (p.His130Asn)
n.745C>A
c.-285C>A (n.-285C>A)
4g.1001765C>GCA355962046IDUAc.676C>G (p.His226Asp)
n.732C>G
c.535C>G (p.His179Asp)
c.469C>G (p.His157Asp)
c.493C>G (p.His165Asp)
c.280C>G (p.His94Asp)
n.576C>G
n.764C>G
c.388C>G (p.His130Asp)
n.745C>G
c.-285C>G (n.-285C>G)
4g.1001765C>TCA355962047IDUAc.676C>T (p.His226Tyr)
n.732C>T
c.535C>T (p.His179Tyr)
c.469C>T (p.His157Tyr)
c.493C>T (p.His165Tyr)
c.280C>T (p.His94Tyr)
n.576C>T
n.764C>T
c.388C>T (p.His130Tyr)
n.745C>T
c.-285C>T (n.-285C>T)
 gnomAD v4
4g.1001766A>CCA355962048IDUAc.677A>C (p.His226Pro)
n.733A>C
c.536A>C (p.His179Pro)
c.470A>C (p.His157Pro)
c.494A>C (p.His165Pro)
c.281A>C (p.His94Pro)
n.577A>C
n.765A>C
c.389A>C (p.His130Pro)
n.746A>C
c.-284A>C (n.-284A>C)
4g.1001766A>GCA355962049IDUAc.677A>G (p.His226Arg)
n.733A>G
c.536A>G (p.His179Arg)
c.470A>G (p.His157Arg)
c.494A>G (p.His165Arg)
c.281A>G (p.His94Arg)
n.577A>G
n.765A>G
c.389A>G (p.His130Arg)
n.746A>G
c.-284A>G (n.-284A>G)
4g.1001766A>TCA355962050IDUAc.677A>T (p.His226Leu)
n.733A>T
c.536A>T (p.His179Leu)
c.470A>T (p.His157Leu)
c.494A>T (p.His165Leu)
c.281A>T (p.His94Leu)
n.577A>T
n.765A>T
c.389A>T (p.His130Leu)
n.746A>T
c.-284A>T (n.-284A>T)
4g.1001767C>ACA355962051IDUAc.678C>A (p.His226Gln)
n.734C>A
c.537C>A (p.His179Gln)
c.471C>A (p.His157Gln)
c.495C>A (p.His165Gln)
c.282C>A (p.His94Gln)
n.578C>A
n.766C>A
c.390C>A (p.His130Gln)
n.747C>A
c.-283C>A (n.-283C>A)
4g.1001767C>GCA355962052IDUAc.678C>G (p.His226Gln)
n.734C>G
c.537C>G (p.His179Gln)
c.471C>G (p.His157Gln)
c.495C>G (p.His165Gln)
c.282C>G (p.His94Gln)
n.578C>G
n.766C>G
c.390C>G (p.His130Gln)
n.747C>G
c.-283C>G (n.-283C>G)
4g.1001767C>TCA438057290IDUAc.678C>T (p.His226=)
n.734C>T
c.537C>T (p.His179=)
c.471C>T (p.His157=)
c.495C>T (p.His165=)
c.282C>T (p.His94=)
n.578C>T
n.766C>T
c.390C>T (p.His130=)
n.747C>T
c.-283C>T (n.-283C>T)
 ClinVar dbSNP gnomAD v4
4g.1001768A=CA1433067897IDUAc.679A= (p.Thr227=)
n.735A=
c.538A= (p.Thr180=)
c.472A= (p.Thr158=)
c.496A= (p.Thr166=)
c.283A= (p.Thr95=)
n.579A=
n.767A=
c.391A= (p.Thr131=)
n.748A=
c.-282A= (n.-282A=)
4g.1001768A>CCA355962053IDUAc.679A>C (p.Thr227Pro)
n.735A>C
c.538A>C (p.Thr180Pro)
c.472A>C (p.Thr158Pro)
c.496A>C (p.Thr166Pro)
c.283A>C (p.Thr95Pro)
n.579A>C
n.767A>C
c.391A>C (p.Thr131Pro)
n.748A>C
c.-282A>C (n.-282A>C)
 dbSNP
4g.1001768A>GCA355962054IDUAc.679A>G (p.Thr227Ala)
n.735A>G
c.538A>G (p.Thr180Ala)
c.472A>G (p.Thr158Ala)
c.496A>G (p.Thr166Ala)
c.283A>G (p.Thr95Ala)
n.579A>G
n.767A>G
c.391A>G (p.Thr131Ala)
n.748A>G
c.-282A>G (n.-282A>G)
4g.1001768A>TCA355962055IDUAc.679A>T (p.Thr227Ser)
n.735A>T
c.538A>T (p.Thr180Ser)
c.472A>T (p.Thr158Ser)
c.496A>T (p.Thr166Ser)
c.283A>T (p.Thr95Ser)
n.579A>T
n.767A>T
c.391A>T (p.Thr131Ser)
n.748A>T
c.-282A>T (n.-282A>T)
4g.1001769C>ACA355962057IDUAc.680C>A (p.Thr227Asn)
n.736C>A
c.539C>A (p.Thr180Asn)
c.473C>A (p.Thr158Asn)
c.497C>A (p.Thr166Asn)
c.284C>A (p.Thr95Asn)
n.580C>A
n.768C>A
c.392C>A (p.Thr131Asn)
n.749C>A
c.-281C>A (n.-281C>A)
 dbSNP gnomAD v4
4g.1001769C=CA1433067900IDUAc.680C= (p.Thr227=)
n.736C=
c.539C= (p.Thr180=)
c.473C= (p.Thr158=)
c.497C= (p.Thr166=)
c.284C= (p.Thr95=)
n.580C=
n.768C=
c.392C= (p.Thr131=)
n.749C=
c.-281C= (n.-281C=)
4g.1001769C>GCA355962058IDUAc.680C>G (p.Thr227Ser)
n.736C>G
c.539C>G (p.Thr180Ser)
c.473C>G (p.Thr158Ser)
c.497C>G (p.Thr166Ser)
c.284C>G (p.Thr95Ser)
n.580C>G
n.768C>G
c.392C>G (p.Thr131Ser)
n.749C>G
c.-281C>G (n.-281C>G)
4g.1001769C>TCA355962056IDUAc.680C>T (p.Thr227Ile)
n.736C>T
c.539C>T (p.Thr180Ile)
c.473C>T (p.Thr158Ile)
c.497C>T (p.Thr166Ile)
c.284C>T (p.Thr95Ile)
n.580C>T
n.768C>T
c.392C>T (p.Thr131Ile)
n.749C>T
c.-281C>T (n.-281C>T)
 gnomAD v4
4g.1001772dupCA2802053IDUAc.683dup (p.Pro229ThrfsTer?)
n.739dup
c.542dup (p.Pro182ThrfsTer?)
c.476dup (p.Pro160ThrfsTer?)
c.500dup (p.Pro168ThrfsTer?)
c.287dup (p.Pro97ThrfsTer?)
n.583dup
n.771dup
c.395dup (p.Pro133ThrfsTer?)
n.752dup
c.-278dup (n.-278dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001772delCA2580610937IDUAc.683del (p.Pro228HisfsTer6)
n.739del
c.542del (p.Pro181HisfsTer6)
c.476del (p.Pro159HisfsTer6)
c.500del (p.Pro167HisfsTer6)
c.287del (p.Pro96HisfsTer6)
n.583del
n.771del
c.395del (p.Pro132HisfsTer6)
n.752del
c.-278del (n.-278del)
 gnomAD v4
4g.1001770C>ACA438057291IDUAc.681C>A (p.Thr227=)
n.737C>A
c.540C>A (p.Thr180=)
c.474C>A (p.Thr158=)
c.498C>A (p.Thr166=)
c.285C>A (p.Thr95=)
n.581C>A
n.769C>A
c.393C>A (p.Thr131=)
n.750C>A
c.-280C>A (n.-280C>A)
 gnomAD v4
4g.1001770C>GCA438057292IDUAc.681C>G (p.Thr227=)
n.737C>G
c.540C>G (p.Thr180=)
c.474C>G (p.Thr158=)
c.498C>G (p.Thr166=)
c.285C>G (p.Thr95=)
n.581C>G
n.769C>G
c.393C>G (p.Thr131=)
n.750C>G
c.-280C>G (n.-280C>G)
 ClinVar
4g.1001770C>TCA438057293IDUAc.681C>T (p.Thr227=)
n.737C>T
c.540C>T (p.Thr180=)
c.474C>T (p.Thr158=)
c.498C>T (p.Thr166=)
c.285C>T (p.Thr95=)
n.581C>T
n.769C>T
c.393C>T (p.Thr131=)
n.750C>T
c.-280C>T (n.-280C>T)
4g.1001771C>ACA355962059IDUAc.682C>A (p.Pro228Thr)
n.738C>A
c.541C>A (p.Pro181Thr)
c.475C>A (p.Pro159Thr)
c.499C>A (p.Pro167Thr)
c.286C>A (p.Pro96Thr)
n.582C>A
n.770C>A
c.394C>A (p.Pro132Thr)
n.751C>A
c.-279C>A (n.-279C>A)
4g.1001771C=CA1433067902IDUAc.682C= (p.Pro228=)
n.738C=
c.541C= (p.Pro181=)
c.475C= (p.Pro159=)
c.499C= (p.Pro167=)
c.286C= (p.Pro96=)
n.582C=
n.770C=
c.394C= (p.Pro132=)
n.751C=
c.-279C= (n.-279C=)
4g.1001771C>GCA355962060IDUAc.682C>G (p.Pro228Ala)
n.738C>G
c.541C>G (p.Pro181Ala)
c.475C>G (p.Pro159Ala)
c.499C>G (p.Pro167Ala)
c.286C>G (p.Pro96Ala)
n.582C>G
n.770C>G
c.394C>G (p.Pro132Ala)
n.751C>G
c.-279C>G (n.-279C>G)
 gnomAD v4
4g.1001771C>TCA2802054IDUAc.682C>T (p.Pro228Ser)
n.738C>T
c.541C>T (p.Pro181Ser)
c.475C>T (p.Pro159Ser)
c.499C>T (p.Pro167Ser)
c.286C>T (p.Pro96Ser)
n.582C>T
n.770C>T
c.394C>T (p.Pro132Ser)
n.751C>T
c.-279C>T (n.-279C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001772C>ACA355962061IDUAc.683C>A (p.Pro228Gln)
n.739C>A
c.542C>A (p.Pro181Gln)
c.476C>A (p.Pro159Gln)
c.500C>A (p.Pro167Gln)
c.287C>A (p.Pro96Gln)
n.583C>A
n.771C>A
c.395C>A (p.Pro132Gln)
n.752C>A
c.-278C>A (n.-278C>A)
4g.1001772C=CA1433067906IDUAc.683C= (p.Pro228=)
n.739C=
c.542C= (p.Pro181=)
c.476C= (p.Pro159=)
c.500C= (p.Pro167=)
c.287C= (p.Pro96=)
n.583C=
n.771C=
c.395C= (p.Pro132=)
n.752C=
c.-278C= (n.-278C=)
4g.1001772C>GCA355962062IDUAc.683C>G (p.Pro228Arg)
n.739C>G
c.542C>G (p.Pro181Arg)
c.476C>G (p.Pro159Arg)
c.500C>G (p.Pro167Arg)
c.287C>G (p.Pro96Arg)
n.583C>G
n.771C>G
c.395C>G (p.Pro132Arg)
n.752C>G
c.-278C>G (n.-278C>G)
4g.1001772C>TCA355962063IDUAc.683C>T (p.Pro228Leu)
n.739C>T
c.542C>T (p.Pro181Leu)
c.476C>T (p.Pro159Leu)
c.500C>T (p.Pro167Leu)
c.287C>T (p.Pro96Leu)
n.583C>T
n.771C>T
c.395C>T (p.Pro132Leu)
n.752C>T
c.-278C>T (n.-278C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.1001772_1001773insCACCAAACACACCCAACCA2760125525IDUAc.683_684insCACCAAACACACCCAAC (p.Pro229ThrfsTer11)
n.739_740insCACCAAACACACCCAAC
c.542_543insCACCAAACACACCCAAC (p.Pro182ThrfsTer11)
c.476_477insCACCAAACACACCCAAC (p.Pro160ThrfsTer11)
c.500_501insCACCAAACACACCCAAC (p.Pro168ThrfsTer11)
c.287_288insCACCAAACACACCCAAC (p.Pro97ThrfsTer11)
n.583_584insCACCAAACACACCCAAC
n.771_772insCACCAAACACACCCAAC
c.395_396insCACCAAACACACCCAAC (p.Pro133ThrfsTer11)
n.752_753insCACCAAACACACCCAAC
c.-278_-277insCACCAAACACACCCAAC (n.-278_-277insCACCAAACACACCCAAC)
4g.1001773A=CA1433067908IDUAc.684A= (p.Pro228=)
n.740A=
c.543A= (p.Pro181=)
c.477A= (p.Pro159=)
c.501A= (p.Pro167=)
c.288A= (p.Pro96=)
n.584A=
n.772A=
c.396A= (p.Pro132=)
n.753A=
c.-277A= (n.-277A=)
4g.1001773A>CCA438057294IDUAc.684A>C (p.Pro228=)
n.740A>C
c.543A>C (p.Pro181=)
c.477A>C (p.Pro159=)
c.501A>C (p.Pro167=)
c.288A>C (p.Pro96=)
n.584A>C
n.772A>C
c.396A>C (p.Pro132=)
n.753A>C
c.-277A>C (n.-277A>C)
4g.1001773A>GCA438057295IDUAc.684A>G (p.Pro228=)
n.740A>G
c.543A>G (p.Pro181=)
c.477A>G (p.Pro159=)
c.501A>G (p.Pro167=)
c.288A>G (p.Pro96=)
n.584A>G
n.772A>G
c.396A>G (p.Pro132=)
n.753A>G
c.-277A>G (n.-277A>G)
 dbSNP
4g.1001773A>TCA438057296IDUAc.684A>T (p.Pro228=)
n.740A>T
c.543A>T (p.Pro181=)
c.477A>T (p.Pro159=)
c.501A>T (p.Pro167=)
c.288A>T (p.Pro96=)
n.584A>T
n.772A>T
c.396A>T (p.Pro132=)
n.753A>T
c.-277A>T (n.-277A>T)
4g.1001774C>ACA355962064IDUAc.685C>A (p.Pro229Thr)
n.741C>A
c.544C>A (p.Pro182Thr)
c.478C>A (p.Pro160Thr)
c.502C>A (p.Pro168Thr)
c.289C>A (p.Pro97Thr)
n.585C>A
n.773C>A
c.397C>A (p.Pro133Thr)
n.754C>A
c.-276C>A (n.-276C>A)
4g.1001774C>GCA355962065IDUAc.685C>G (p.Pro229Ala)
n.741C>G
c.544C>G (p.Pro182Ala)
c.478C>G (p.Pro160Ala)
c.502C>G (p.Pro168Ala)
c.289C>G (p.Pro97Ala)
n.585C>G
n.773C>G
c.397C>G (p.Pro133Ala)
n.754C>G
c.-276C>G (n.-276C>G)
4g.1001774C>TCA355962066IDUAc.685C>T (p.Pro229Ser)
n.741C>T
c.544C>T (p.Pro182Ser)
c.478C>T (p.Pro160Ser)
c.502C>T (p.Pro168Ser)
c.289C>T (p.Pro97Ser)
n.585C>T
n.773C>T
c.397C>T (p.Pro133Ser)
n.754C>T
c.-276C>T (n.-276C>T)
 gnomAD v4
4g.1001775C>ACA355962067IDUAc.686C>A (p.Pro229Gln)
n.742C>A
c.545C>A (p.Pro182Gln)
c.479C>A (p.Pro160Gln)
c.503C>A (p.Pro168Gln)
c.290C>A (p.Pro97Gln)
n.586C>A
n.774C>A
c.398C>A (p.Pro133Gln)
n.755C>A
c.-275C>A (n.-275C>A)
4g.1001775C=CA1433067911IDUAc.686C= (p.Pro229=)
n.742C=
c.545C= (p.Pro182=)
c.479C= (p.Pro160=)
c.503C= (p.Pro168=)
c.290C= (p.Pro97=)
n.586C=
n.774C=
c.398C= (p.Pro133=)
n.755C=
c.-275C= (n.-275C=)
4g.1001775C>GCA355962068IDUAc.686C>G (p.Pro229Arg)
n.742C>G
c.545C>G (p.Pro182Arg)
c.479C>G (p.Pro160Arg)
c.503C>G (p.Pro168Arg)
c.290C>G (p.Pro97Arg)
n.586C>G
n.774C>G
c.398C>G (p.Pro133Arg)
n.755C>G
c.-275C>G (n.-275C>G)
 dbSNP gnomAD v4
4g.1001775C>TCA2802055IDUAc.686C>T (p.Pro229Leu)
n.742C>T
c.545C>T (p.Pro182Leu)
c.479C>T (p.Pro160Leu)
c.503C>T (p.Pro168Leu)
c.290C>T (p.Pro97Leu)
n.586C>T
n.774C>T
c.398C>T (p.Pro133Leu)
n.755C>T
c.-275C>T (n.-275C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.1001776G>ACA438057297IDUAc.687G>A (p.Pro229=)
n.743G>A
c.546G>A (p.Pro182=)
c.480G>A (p.Pro160=)
c.504G>A (p.Pro168=)
c.291G>A (p.Pro97=)
n.587G>A
n.775G>A
c.399G>A (p.Pro133=)
n.756G>A
c.-274G>A (n.-274G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1001776G>CCA438057298IDUAc.687G>C (p.Pro229=)
n.743G>C
c.546G>C (p.Pro182=)
c.480G>C (p.Pro160=)
c.504G>C (p.Pro168=)
c.291G>C (p.Pro97=)
n.587G>C
n.775G>C
c.399G>C (p.Pro133=)
n.756G>C
c.-274G>C (n.-274G>C)
4g.1001776G=CA1433067913IDUAc.687G= (p.Pro229=)
n.743G=
c.546G= (p.Pro182=)
c.480G= (p.Pro160=)
c.504G= (p.Pro168=)
c.291G= (p.Pro97=)
n.587G=
n.775G=
c.399G= (p.Pro133=)
n.756G=
c.-274G= (n.-274G=)
4g.1001776G>TCA438057299IDUAc.687G>T (p.Pro229=)
n.743G>T
c.546G>T (p.Pro182=)
c.480G>T (p.Pro160=)
c.504G>T (p.Pro168=)
c.291G>T (p.Pro97=)
n.587G>T
n.775G>T
c.399G>T (p.Pro133=)
n.756G>T
c.-274G>T (n.-274G>T)
 ClinVar dbSNP gnomAD v4
4g.1001777C>ACA438057300IDUAc.688C>A (p.Arg230=)
n.744C>A
c.547C>A (p.Arg183=)
c.481C>A (p.Arg161=)
c.505C>A (p.Arg169=)
c.292C>A (p.Arg98=)
n.588C>A
n.776C>A
c.400C>A (p.Arg134=)
n.757C>A
c.-273C>A (n.-273C>A)
 gnomAD v4
4g.1001777C>GCA355962070IDUAc.688C>G (p.Arg230Gly)
n.744C>G
c.547C>G (p.Arg183Gly)
c.481C>G (p.Arg161Gly)
c.505C>G (p.Arg169Gly)
c.292C>G (p.Arg98Gly)
n.588C>G
n.776C>G
c.400C>G (p.Arg134Gly)
n.757C>G
c.-273C>G (n.-273C>G)
4g.1001777C>TCA355962069IDUAc.688C>T (p.Arg230Ter)
n.744C>T
c.547C>T (p.Arg183Ter)
c.481C>T (p.Arg161Ter)
c.505C>T (p.Arg169Ter)
c.292C>T (p.Arg98Ter)
n.588C>T
n.776C>T
c.400C>T (p.Arg134Ter)
n.757C>T
c.-273C>T (n.-273C>T)
 gnomAD v4 COSMIC COSMIC
4g.1001778G>ACA355962071IDUAc.689G>A (p.Arg230Gln)
n.745G>A
c.548G>A (p.Arg183Gln)
c.482G>A (p.Arg161Gln)
c.506G>A (p.Arg169Gln)
c.293G>A (p.Arg98Gln)
n.589G>A
n.777G>A
c.401G>A (p.Arg134Gln)
n.758G>A
c.-272G>A (n.-272G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.1001778G>CCA355962072IDUAc.689G>C (p.Arg230Pro)
n.745G>C
c.548G>C (p.Arg183Pro)
c.482G>C (p.Arg161Pro)
c.506G>C (p.Arg169Pro)
c.293G>C (p.Arg98Pro)
n.589G>C
n.777G>C
c.401G>C (p.Arg134Pro)
n.758G>C
c.-272G>C (n.-272G>C)
 dbSNP
4g.1001778G=CA1433067915IDUAc.689G= (p.Arg230=)
n.745G=
c.548G= (p.Arg183=)
c.482G= (p.Arg161=)
c.506G= (p.Arg169=)
c.293G= (p.Arg98=)
n.589G=
n.777G=
c.401G= (p.Arg134=)
n.758G=
c.-272G= (n.-272G=)
4g.1001778G>TCA355962073IDUAc.689G>T (p.Arg230Leu)
n.745G>T
c.548G>T (p.Arg183Leu)
c.482G>T (p.Arg161Leu)
c.506G>T (p.Arg169Leu)
c.293G>T (p.Arg98Leu)
n.589G>T
n.777G>T
c.401G>T (p.Arg134Leu)
n.758G>T
c.-272G>T (n.-272G>T)
 gnomAD v4
4g.1001779A>CCA438057301IDUAc.690A>C (p.Arg230=)
n.746A>C
c.549A>C (p.Arg183=)
c.483A>C (p.Arg161=)
c.507A>C (p.Arg169=)
c.294A>C (p.Arg98=)
n.590A>C
n.778A>C
c.402A>C (p.Arg134=)
n.759A>C
c.-271A>C (n.-271A>C)
4g.1001779A>GCA438057302IDUAc.690A>G (p.Arg230=)
n.746A>G
c.549A>G (p.Arg183=)
c.483A>G (p.Arg161=)
c.507A>G (p.Arg169=)
c.294A>G (p.Arg98=)
n.590A>G
n.778A>G
c.402A>G (p.Arg134=)
n.759A>G
c.-271A>G (n.-271A>G)
4g.1001779A>TCA438057303IDUAc.690A>T (p.Arg230=)
n.746A>T
c.549A>T (p.Arg183=)
c.483A>T (p.Arg161=)
c.507A>T (p.Arg169=)
c.294A>T (p.Arg98=)
n.590A>T
n.778A>T
c.402A>T (p.Arg134=)
n.759A>T
c.-271A>T (n.-271A>T)
4g.1001780T>ACA355962074IDUAc.691T>A (p.Ser231Thr)
n.747T>A
c.550T>A (p.Ser184Thr)
c.484T>A (p.Ser162Thr)
c.508T>A (p.Ser170Thr)
c.295T>A (p.Ser99Thr)
n.591T>A
n.779T>A
c.403T>A (p.Ser135Thr)
n.760T>A
c.-270T>A (n.-270T>A)
4g.1001780T>CCA355962075IDUAc.691T>C (p.Ser231Pro)
n.747T>C
c.550T>C (p.Ser184Pro)
c.484T>C (p.Ser162Pro)
c.508T>C (p.Ser170Pro)
c.295T>C (p.Ser99Pro)
n.591T>C
n.779T>C
c.403T>C (p.Ser135Pro)
n.760T>C
c.-270T>C (n.-270T>C)
4g.1001780T>GCA355962076IDUAc.691T>G (p.Ser231Ala)
n.747T>G
c.550T>G (p.Ser184Ala)
c.484T>G (p.Ser162Ala)
c.508T>G (p.Ser170Ala)
c.295T>G (p.Ser99Ala)
n.591T>G
n.779T>G
c.403T>G (p.Ser135Ala)
n.760T>G
c.-270T>G (n.-270T>G)
4g.1001781C>ACA355962077IDUAc.692C>A (p.Ser231Tyr)
n.748C>A
c.551C>A (p.Ser184Tyr)
c.485C>A (p.Ser162Tyr)
c.509C>A (p.Ser170Tyr)
c.296C>A (p.Ser99Tyr)
n.592C>A
n.780C>A
c.404C>A (p.Ser135Tyr)
n.761C>A
c.-269C>A (n.-269C>A)
4g.1001781C=CA1433067917IDUAc.692C= (p.Ser231=)
n.748C=
c.551C= (p.Ser184=)
c.485C= (p.Ser162=)
c.509C= (p.Ser170=)
c.296C= (p.Ser99=)
n.592C=
n.780C=
c.404C= (p.Ser135=)
n.761C=
c.-269C= (n.-269C=)
4g.1001781C>GCA91167910IDUAc.692C>G (p.Ser231Cys)
n.748C>G
c.551C>G (p.Ser184Cys)
c.485C>G (p.Ser162Cys)
c.509C>G (p.Ser170Cys)
c.296C>G (p.Ser99Cys)
n.592C>G
n.780C>G
c.404C>G (p.Ser135Cys)
n.761C>G
c.-269C>G (n.-269C>G)
 dbSNP
4g.1001781C>TCA355962078IDUAc.692C>T (p.Ser231Phe)
n.748C>T
c.551C>T (p.Ser184Phe)
c.485C>T (p.Ser162Phe)
c.509C>T (p.Ser170Phe)
c.296C>T (p.Ser99Phe)
n.592C>T
n.780C>T
c.404C>T (p.Ser135Phe)
n.761C>T
c.-269C>T (n.-269C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.1001782C>ACA438057304IDUAc.693C>A (p.Ser231=)
n.749C>A
c.552C>A (p.Ser184=)
c.486C>A (p.Ser162=)
c.510C>A (p.Ser170=)
c.297C>A (p.Ser99=)
n.593C>A
n.781C>A
c.405C>A (p.Ser135=)
n.762C>A
c.-268C>A (n.-268C>A)
 ClinVar dbSNP gnomAD v4
4g.1001782C=CA1433067921IDUAc.693C= (p.Ser231=)
n.749C=
c.552C= (p.Ser184=)
c.486C= (p.Ser162=)
c.510C= (p.Ser170=)
c.297C= (p.Ser99=)
n.593C=
n.781C=
c.405C= (p.Ser135=)
n.762C=
c.-268C= (n.-268C=)
4g.1001782C>GCA438057305IDUAc.693C>G (p.Ser231=)
n.749C>G
c.552C>G (p.Ser184=)
c.486C>G (p.Ser162=)
c.510C>G (p.Ser170=)
c.297C>G (p.Ser99=)
n.593C>G
n.781C>G
c.405C>G (p.Ser135=)
n.762C>G
c.-268C>G (n.-268C>G)
 ClinVar gnomAD v4
4g.1001782C>TCA2802056IDUAc.693C>T (p.Ser231=)
n.749C>T
c.552C>T (p.Ser184=)
c.486C>T (p.Ser162=)
c.510C>T (p.Ser170=)
c.297C>T (p.Ser99=)
n.593C>T
n.781C>T
c.405C>T (p.Ser135=)
n.762C>T
c.-268C>T (n.-268C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.1001783C>ACA2802057IDUAc.694C>A (p.Pro232Thr)
n.750C>A
c.553C>A (p.Pro185Thr)
c.487C>A (p.Pro163Thr)
c.511C>A (p.Pro171Thr)
c.298C>A (p.Pro100Thr)
n.594C>A
n.782C>A
c.406C>A (p.Pro136Thr)
n.763C>A
c.-267C>A (n.-267C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001783C=CA1433067924IDUAc.694C= (p.Pro232=)
n.750C=
c.553C= (p.Pro185=)
c.487C= (p.Pro163=)
c.511C= (p.Pro171=)
c.298C= (p.Pro100=)
n.594C=
n.782C=
c.406C= (p.Pro136=)
n.763C=
c.-267C= (n.-267C=)
4g.1001783C>GCA355962079IDUAc.694C>G (p.Pro232Ala)
n.750C>G
c.553C>G (p.Pro185Ala)
c.487C>G (p.Pro163Ala)
c.511C>G (p.Pro171Ala)
c.298C>G (p.Pro100Ala)
n.594C>G
n.782C>G
c.406C>G (p.Pro136Ala)
n.763C>G
c.-267C>G (n.-267C>G)
4g.1001783C>TCA355962080IDUAc.694C>T (p.Pro232Ser)
n.750C>T
c.553C>T (p.Pro185Ser)
c.487C>T (p.Pro163Ser)
c.511C>T (p.Pro171Ser)
c.298C>T (p.Pro100Ser)
n.594C>T
n.782C>T
c.406C>T (p.Pro136Ser)
n.763C>T
c.-267C>T (n.-267C>T)
 gnomAD v4
4g.1001784C>ACA355962082IDUAc.695C>A (p.Pro232Gln)
n.751C>A
c.554C>A (p.Pro185Gln)
c.488C>A (p.Pro163Gln)
c.512C>A (p.Pro171Gln)
c.299C>A (p.Pro100Gln)
n.595C>A
n.783C>A
c.407C>A (p.Pro136Gln)
n.764C>A
c.-266C>A (n.-266C>A)
 gnomAD v4
4g.1001784C>GCA355962083IDUAc.695C>G (p.Pro232Arg)
n.751C>G
c.554C>G (p.Pro185Arg)
c.488C>G (p.Pro163Arg)
c.512C>G (p.Pro171Arg)
c.299C>G (p.Pro100Arg)
n.595C>G
n.783C>G
c.407C>G (p.Pro136Arg)
n.764C>G
c.-266C>G (n.-266C>G)
4g.1001784C>TCA355962081IDUAc.695C>T (p.Pro232Leu)
n.751C>T
c.554C>T (p.Pro185Leu)
c.488C>T (p.Pro163Leu)
c.512C>T (p.Pro171Leu)
c.299C>T (p.Pro100Leu)
n.595C>T
n.783C>T
c.407C>T (p.Pro136Leu)
n.764C>T
c.-266C>T (n.-266C>T)
 gnomAD v4
4g.1001785G>ACA438057306IDUAc.696G>A (p.Pro232=)
n.752G>A
c.555G>A (p.Pro185=)
c.489G>A (p.Pro163=)
c.513G>A (p.Pro171=)
c.300G>A (p.Pro100=)
n.596G>A
n.784G>A
c.408G>A (p.Pro136=)
n.765G>A
c.-265G>A (n.-265G>A)
 ClinVar dbSNP gnomAD v4
4g.1001785G>CCA438057307IDUAc.696G>C (p.Pro232=)
n.752G>C
c.555G>C (p.Pro185=)
c.489G>C (p.Pro163=)
c.513G>C (p.Pro171=)
c.300G>C (p.Pro100=)
n.596G>C
n.784G>C
c.408G>C (p.Pro136=)
n.765G>C
c.-265G>C (n.-265G>C)
 dbSNP gnomAD v4
4g.1001785G=CA1433067927IDUAc.696G= (p.Pro232=)
n.752G=
c.555G= (p.Pro185=)
c.489G= (p.Pro163=)
c.513G= (p.Pro171=)
c.300G= (p.Pro100=)
n.596G=
n.784G=
c.408G= (p.Pro136=)
n.765G=
c.-265G= (n.-265G=)
4g.1001785G>TCA438057308IDUAc.696G>T (p.Pro232=)
n.752G>T
c.555G>T (p.Pro185=)
c.489G>T (p.Pro163=)
c.513G>T (p.Pro171=)
c.300G>T (p.Pro100=)
n.596G>T
n.784G>T
c.408G>T (p.Pro136=)
n.765G>T
c.-265G>T (n.-265G>T)
 gnomAD v4
4g.1001786C>ACA355962085IDUAc.697C>A (p.Leu233Met)
n.753C>A
c.556C>A (p.Leu186Met)
c.490C>A (p.Leu164Met)
c.514C>A (p.Leu172Met)
c.301C>A (p.Leu101Met)
n.597C>A
n.785C>A
c.409C>A (p.Leu137Met)
n.766C>A
c.-264C>A (n.-264C>A)
 dbSNP gnomAD v2 gnomAD v4
4g.1001786C=CA1433067929IDUAc.697C= (p.Leu233=)
n.753C=
c.556C= (p.Leu186=)
c.490C= (p.Leu164=)
c.514C= (p.Leu172=)
c.301C= (p.Leu101=)
n.597C=
n.785C=
c.409C= (p.Leu137=)
n.766C=
c.-264C= (n.-264C=)
4g.1001786C>GCA355962084IDUAc.697C>G (p.Leu233Val)
n.753C>G
c.556C>G (p.Leu186Val)
c.490C>G (p.Leu164Val)
c.514C>G (p.Leu172Val)
c.301C>G (p.Leu101Val)
n.597C>G
n.785C>G
c.409C>G (p.Leu137Val)
n.766C>G
c.-264C>G (n.-264C>G)
4g.1001786C>TCA438057309IDUAc.697C>T (p.Leu233=)
n.753C>T
c.556C>T (p.Leu186=)
c.490C>T (p.Leu164=)
c.514C>T (p.Leu172=)
c.301C>T (p.Leu101=)
n.597C>T
n.785C>T
c.409C>T (p.Leu137=)
n.766C>T
c.-264C>T (n.-264C>T)
 gnomAD v4
4g.1001787T>ACA355962086IDUAc.698T>A (p.Leu233Gln)
n.754T>A
c.557T>A (p.Leu186Gln)
c.491T>A (p.Leu164Gln)
c.515T>A (p.Leu172Gln)
c.302T>A (p.Leu101Gln)
n.598T>A
n.786T>A
c.410T>A (p.Leu137Gln)
n.767T>A
c.-263T>A (n.-263T>A)
4g.1001787T>CCA355962087IDUAc.698T>C (p.Leu233Pro)
n.754T>C
c.557T>C (p.Leu186Pro)
c.491T>C (p.Leu164Pro)
c.515T>C (p.Leu172Pro)
c.302T>C (p.Leu101Pro)
n.598T>C
n.786T>C
c.410T>C (p.Leu137Pro)
n.767T>C
c.-263T>C (n.-263T>C)
 gnomAD v4
4g.1001787T>GCA355962088IDUAc.698T>G (p.Leu233Arg)
n.754T>G
c.557T>G (p.Leu186Arg)
c.491T>G (p.Leu164Arg)
c.515T>G (p.Leu172Arg)
c.302T>G (p.Leu101Arg)
n.598T>G
n.786T>G
c.410T>G (p.Leu137Arg)
n.767T>G
c.-263T>G (n.-263T>G)
 gnomAD v4
4g.1001788G>ACA438057310IDUAc.699G>A (p.Leu233=)
n.755G>A
c.558G>A (p.Leu186=)
c.492G>A (p.Leu164=)
c.516G>A (p.Leu172=)
c.303G>A (p.Leu101=)
n.599G>A
n.787G>A
c.411G>A (p.Leu137=)
n.768G>A
c.-262G>A (n.-262G>A)
4g.1001788G>CCA438057311IDUAc.699G>C (p.Leu233=)
n.755G>C
c.558G>C (p.Leu186=)
c.492G>C (p.Leu164=)
c.516G>C (p.Leu172=)
c.303G>C (p.Leu101=)
n.599G>C
n.787G>C
c.411G>C (p.Leu137=)
n.768G>C
c.-262G>C (n.-262G>C)
4g.1001788G>TCA438057312IDUAc.699G>T (p.Leu233=)
n.755G>T
c.558G>T (p.Leu186=)
c.492G>T (p.Leu164=)
c.516G>T (p.Leu172=)
c.303G>T (p.Leu101=)
n.599G>T
n.787G>T
c.411G>T (p.Leu137=)
n.768G>T
c.-262G>T (n.-262G>T)
 gnomAD v4
4g.1001789A>CCA355962089IDUAc.700A>C (p.Ser234Arg)
n.756A>C
c.559A>C (p.Ser187Arg)
c.493A>C (p.Ser165Arg)
c.517A>C (p.Ser173Arg)
c.304A>C (p.Ser102Arg)
n.600A>C
n.788A>C
c.412A>C (p.Ser138Arg)
n.769A>C
c.-261A>C (n.-261A>C)
4g.1001789A>GCA355962090IDUAc.700A>G (p.Ser234Gly)
n.756A>G
c.559A>G (p.Ser187Gly)
c.493A>G (p.Ser165Gly)
c.517A>G (p.Ser173Gly)
c.304A>G (p.Ser102Gly)
n.600A>G
n.788A>G
c.412A>G (p.Ser138Gly)
n.769A>G
c.-261A>G (n.-261A>G)
4g.1001789A>TCA355962091IDUAc.700A>T (p.Ser234Cys)
n.756A>T
c.559A>T (p.Ser187Cys)
c.493A>T (p.Ser165Cys)
c.517A>T (p.Ser173Cys)
c.304A>T (p.Ser102Cys)
n.600A>T
n.788A>T
c.412A>T (p.Ser138Cys)
n.769A>T
c.-261A>T (n.-261A>T)
4g.1001790G>ACA355962092IDUAc.701G>A (p.Ser234Asn)
n.757G>A
c.560G>A (p.Ser187Asn)
c.494G>A (p.Ser165Asn)
c.518G>A (p.Ser173Asn)
c.305G>A (p.Ser102Asn)
n.601G>A
n.789G>A
c.413G>A (p.Ser138Asn)
n.770G>A
c.-260G>A (n.-260G>A)
 gnomAD v4
4g.1001790G>CCA2802058IDUAc.701G>C (p.Ser234Thr)
n.757G>C
c.560G>C (p.Ser187Thr)
c.494G>C (p.Ser165Thr)
c.518G>C (p.Ser173Thr)
c.305G>C (p.Ser102Thr)
n.601G>C
n.789G>C
c.413G>C (p.Ser138Thr)
n.770G>C
c.-260G>C (n.-260G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001790G=CA1433067932IDUAc.701G= (p.Ser234=)
n.757G=
c.560G= (p.Ser187=)
c.494G= (p.Ser165=)
c.518G= (p.Ser173=)
c.305G= (p.Ser102=)
n.601G=
n.789G=
c.413G= (p.Ser138=)
n.770G=
c.-260G= (n.-260G=)
4g.1001790G>TCA355962093IDUAc.701G>T (p.Ser234Ile)
n.757G>T
c.560G>T (p.Ser187Ile)
c.494G>T (p.Ser165Ile)
c.518G>T (p.Ser173Ile)
c.305G>T (p.Ser102Ile)
n.601G>T
n.789G>T
c.413G>T (p.Ser138Ile)
n.770G>T
c.-260G>T (n.-260G>T)
 gnomAD v4

Number of alleles fetched