Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.154569575T>ACA442013272FGBc.1020T>A (p.Leu340=)
n.939+268T>A
c.363T>A (p.Leu121=)
c.843T>A (p.Leu281=)
c.888T>A (p.Leu296=)
c.746-26T>A (n.746-26T>A)
c.1011T>A (p.Leu337=)
4g.154569575T>CCA442013270FGBc.1020T>C (p.Leu340=)
n.939+268T>C
c.363T>C (p.Leu121=)
c.843T>C (p.Leu281=)
c.888T>C (p.Leu296=)
c.746-26T>C (n.746-26T>C)
c.1011T>C (p.Leu337=)
4g.154569575T>GCA442013263FGBc.1020T>G (p.Leu340=)
n.939+268T>G
c.363T>G (p.Leu121=)
c.843T>G (p.Leu281=)
c.888T>G (p.Leu296=)
c.746-26T>G (n.746-26T>G)
c.1011T>G (p.Leu337=)
4g.154569576T>ACA358514805FGBc.1021T>A (p.Leu341Met)
n.939+269T>A
c.364T>A (p.Leu122Met)
c.844T>A (p.Leu282Met)
c.889T>A (p.Leu297Met)
c.746-25T>A (n.746-25T>A)
c.1012T>A (p.Leu338Met)
4g.154569576T>CCA442013274FGBc.1021T>C (p.Leu341=)
n.939+269T>C
c.364T>C (p.Leu122=)
c.844T>C (p.Leu282=)
c.889T>C (p.Leu297=)
c.746-25T>C (n.746-25T>C)
c.1012T>C (p.Leu338=)
dbSNP
4g.154569576T>GCA358514802FGBc.1021T>G (p.Leu341Val)
n.939+269T>G
c.364T>G (p.Leu122Val)
c.844T>G (p.Leu282Val)
c.889T>G (p.Leu297Val)
c.746-25T>G (n.746-25T>G)
c.1012T>G (p.Leu338Val)
4g.154569576T=CA1504935298FGBc.1021T= (p.Leu341=)
n.939+269T=
c.364T= (p.Leu122=)
c.844T= (p.Leu282=)
c.889T= (p.Leu297=)
c.746-25T= (n.746-25T=)
c.1012T= (p.Leu338=)
4g.154569577T>ACA358514807FGBc.1022T>A (p.Leu341Ter)
n.939+270T>A
c.365T>A (p.Leu122Ter)
c.845T>A (p.Leu282Ter)
c.890T>A (p.Leu297Ter)
c.746-24T>A (n.746-24T>A)
c.1013T>A (p.Leu338Ter)
4g.154569577T>CCA358514808FGBc.1022T>C (p.Leu341Ser)
n.939+270T>C
c.365T>C (p.Leu122Ser)
c.845T>C (p.Leu282Ser)
c.890T>C (p.Leu297Ser)
c.746-24T>C (n.746-24T>C)
c.1013T>C (p.Leu338Ser)
COSMIC
4g.154569577T>GCA358514809FGBc.1022T>G (p.Leu341Trp)
n.939+270T>G
c.365T>G (p.Leu122Trp)
c.845T>G (p.Leu282Trp)
c.890T>G (p.Leu297Trp)
c.746-24T>G (n.746-24T>G)
c.1013T>G (p.Leu338Trp)
4g.154569578G>ACA442013280FGBc.1023G>A (p.Leu341=)
n.939+271G>A
c.366G>A (p.Leu122=)
c.846G>A (p.Leu282=)
c.891G>A (p.Leu297=)
c.746-23G>A (n.746-23G>A)
c.1014G>A (p.Leu338=)
4g.154569578G>CCA358514811FGBc.1023G>C (p.Leu341Phe)
n.939+271G>C
c.366G>C (p.Leu122Phe)
c.846G>C (p.Leu282Phe)
c.891G>C (p.Leu297Phe)
c.746-23G>C (n.746-23G>C)
c.1014G>C (p.Leu338Phe)
dbSNP
4g.154569578G=CA1504935300FGBc.1023G= (p.Leu341=)
n.939+271G=
c.366G= (p.Leu122=)
c.846G= (p.Leu282=)
c.891G= (p.Leu297=)
c.746-23G= (n.746-23G=)
c.1014G= (p.Leu338=)
4g.154569578G>TCA358514813FGBc.1023G>T (p.Leu341Phe)
n.939+271G>T
c.366G>T (p.Leu122Phe)
c.846G>T (p.Leu282Phe)
c.891G>T (p.Leu297Phe)
c.746-23G>T (n.746-23G>T)
c.1014G>T (p.Leu338Phe)
4g.154569579A>CCA358514814FGBc.1024A>C (p.Ile342Leu)
n.939+272A>C
c.367A>C (p.Ile123Leu)
c.847A>C (p.Ile283Leu)
c.892A>C (p.Ile298Leu)
c.746-22A>C (n.746-22A>C)
c.1015A>C (p.Ile339Leu)
4g.154569579A>GCA358514815FGBc.1024A>G (p.Ile342Val)
n.939+272A>G
c.367A>G (p.Ile123Val)
c.847A>G (p.Ile283Val)
c.892A>G (p.Ile298Val)
c.746-22A>G (n.746-22A>G)
c.1015A>G (p.Ile339Val)
4g.154569579A>TCA358514817FGBc.1024A>T (p.Ile342Leu)
n.939+272A>T
c.367A>T (p.Ile123Leu)
c.847A>T (p.Ile283Leu)
c.892A>T (p.Ile298Leu)
c.746-22A>T (n.746-22A>T)
c.1015A>T (p.Ile339Leu)
4g.154569580T>ACA358514819FGBc.1025T>A (p.Ile342Lys)
n.939+273T>A
c.368T>A (p.Ile123Lys)
c.848T>A (p.Ile283Lys)
c.893T>A (p.Ile298Lys)
c.746-21T>A (n.746-21T>A)
c.1016T>A (p.Ile339Lys)
4g.154569580T>CCA3114702FGBc.1025T>C (p.Ile342Thr)
n.939+273T>C
c.368T>C (p.Ile123Thr)
c.848T>C (p.Ile283Thr)
c.893T>C (p.Ile298Thr)
c.746-21T>C (n.746-21T>C)
c.1016T>C (p.Ile339Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569580T>GCA358514821FGBc.1025T>G (p.Ile342Arg)
n.939+273T>G
c.368T>G (p.Ile123Arg)
c.848T>G (p.Ile283Arg)
c.893T>G (p.Ile298Arg)
c.746-21T>G (n.746-21T>G)
c.1016T>G (p.Ile339Arg)
4g.154569580T=CA1504935302FGBc.1025T= (p.Ile342=)
n.939+273T=
c.368T= (p.Ile123=)
c.848T= (p.Ile283=)
c.893T= (p.Ile298=)
c.746-21T= (n.746-21T=)
c.1016T= (p.Ile339=)
4g.154569581A=CA1504935304FGBc.1026A= (p.Ile342=)
n.939+274A=
c.369A= (p.Ile123=)
c.849A= (p.Ile283=)
c.894A= (p.Ile298=)
c.746-20A= (n.746-20A=)
c.1017A= (p.Ile339=)
4g.154569581A>CCA442013287FGBc.1026A>C (p.Ile342=)
n.939+274A>C
c.369A>C (p.Ile123=)
c.849A>C (p.Ile283=)
c.894A>C (p.Ile298=)
c.746-20A>C (n.746-20A>C)
c.1017A>C (p.Ile339=)
4g.154569581A>GCA3114703FGBc.1026A>G (p.Ile342Met)
n.939+274A>G
c.369A>G (p.Ile123Met)
c.849A>G (p.Ile283Met)
c.894A>G (p.Ile298Met)
c.746-20A>G (n.746-20A>G)
c.1017A>G (p.Ile339Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569581A>TCA108751572FGBc.1026A>T (p.Ile342=)
n.939+274A>T
c.369A>T (p.Ile123=)
c.849A>T (p.Ile283=)
c.894A>T (p.Ile298=)
c.746-20A>T (n.746-20A>T)
c.1017A>T (p.Ile339=)
dbSNP
4g.154569582G>ACA3114704FGBc.1027G>A (p.Glu343Lys)
n.939+275G>A
c.370G>A (p.Glu124Lys)
c.850G>A (p.Glu284Lys)
c.895G>A (p.Glu299Lys)
c.746-19G>A (n.746-19G>A)
c.1018G>A (p.Glu340Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569582G>CCA358514826FGBc.1027G>C (p.Glu343Gln)
n.939+275G>C
c.370G>C (p.Glu124Gln)
c.850G>C (p.Glu284Gln)
c.895G>C (p.Glu299Gln)
c.746-19G>C (n.746-19G>C)
c.1018G>C (p.Glu340Gln)
4g.154569582G=CA1504935306FGBc.1027G= (p.Glu343=)
n.939+275G=
c.370G= (p.Glu124=)
c.850G= (p.Glu284=)
c.895G= (p.Glu299=)
c.746-19G= (n.746-19G=)
c.1018G= (p.Glu340=)
4g.154569582G>TCA358514824FGBc.1027G>T (p.Glu343Ter)
n.939+275G>T
c.370G>T (p.Glu124Ter)
c.850G>T (p.Glu284Ter)
c.895G>T (p.Glu299Ter)
c.746-19G>T (n.746-19G>T)
c.1018G>T (p.Glu340Ter)
COSMIC
4g.154569583A>CCA358514828FGBc.1028A>C (p.Glu343Ala)
n.939+276A>C
c.371A>C (p.Glu124Ala)
c.851A>C (p.Glu284Ala)
c.896A>C (p.Glu299Ala)
c.746-18A>C (n.746-18A>C)
c.1019A>C (p.Glu340Ala)
4g.154569583A>GCA358514830FGBc.1028A>G (p.Glu343Gly)
n.939+276A>G
c.371A>G (p.Glu124Gly)
c.851A>G (p.Glu284Gly)
c.896A>G (p.Glu299Gly)
c.746-18A>G (n.746-18A>G)
c.1019A>G (p.Glu340Gly)
4g.154569583A>TCA358514832FGBc.1028A>T (p.Glu343Val)
n.939+276A>T
c.371A>T (p.Glu124Val)
c.851A>T (p.Glu284Val)
c.896A>T (p.Glu299Val)
c.746-18A>T (n.746-18A>T)
c.1019A>T (p.Glu340Val)
4g.154569584A>CCA358514834FGBc.1029A>C (p.Glu343Asp)
n.939+277A>C
c.372A>C (p.Glu124Asp)
c.852A>C (p.Glu284Asp)
c.897A>C (p.Glu299Asp)
c.746-17A>C (n.746-17A>C)
c.1020A>C (p.Glu340Asp)
4g.154569584A>GCA442013298FGBc.1029A>G (p.Glu343=)
n.939+277A>G
c.372A>G (p.Glu124=)
c.852A>G (p.Glu284=)
c.897A>G (p.Glu299=)
c.746-17A>G (n.746-17A>G)
c.1020A>G (p.Glu340=)
4g.154569584A>TCA358514835FGBc.1029A>T (p.Glu343Asp)
n.939+277A>T
c.372A>T (p.Glu124Asp)
c.852A>T (p.Glu284Asp)
c.897A>T (p.Glu299Asp)
c.746-17A>T (n.746-17A>T)
c.1020A>T (p.Glu340Asp)
4g.154569585A=CA1504935308FGBc.1030A= (p.Met344=)
n.939+278A=
c.373A= (p.Met125=)
c.853A= (p.Met285=)
c.898A= (p.Met300=)
c.746-16A= (n.746-16A=)
c.1021A= (p.Met341=)
4g.154569585A>CCA358514841FGBc.1030A>C (p.Met344Leu)
n.939+278A>C
c.373A>C (p.Met125Leu)
c.853A>C (p.Met285Leu)
c.898A>C (p.Met300Leu)
c.746-16A>C (n.746-16A>C)
c.1021A>C (p.Met341Leu)
4g.154569585A>GCA358514840FGBc.1030A>G (p.Met344Val)
n.939+278A>G
c.373A>G (p.Met125Val)
c.853A>G (p.Met285Val)
c.898A>G (p.Met300Val)
c.746-16A>G (n.746-16A>G)
c.1021A>G (p.Met341Val)
dbSNP
4g.154569585A>TCA358514837FGBc.1030A>T (p.Met344Leu)
n.939+278A>T
c.373A>T (p.Met125Leu)
c.853A>T (p.Met285Leu)
c.898A>T (p.Met300Leu)
c.746-16A>T (n.746-16A>T)
c.1021A>T (p.Met341Leu)
4g.154569586T>ACA358514843FGBc.1031T>A (p.Met344Lys)
n.939+279T>A
c.374T>A (p.Met125Lys)
c.854T>A (p.Met285Lys)
c.899T>A (p.Met300Lys)
c.746-15T>A (n.746-15T>A)
c.1022T>A (p.Met341Lys)
4g.154569586T>CCA3114705FGBc.1031T>C (p.Met344Thr)
n.939+279T>C
c.374T>C (p.Met125Thr)
c.854T>C (p.Met285Thr)
c.899T>C (p.Met300Thr)
c.746-15T>C (n.746-15T>C)
c.1022T>C (p.Met341Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569586T>GCA358514845FGBc.1031T>G (p.Met344Arg)
n.939+279T>G
c.374T>G (p.Met125Arg)
c.854T>G (p.Met285Arg)
c.899T>G (p.Met300Arg)
c.746-15T>G (n.746-15T>G)
c.1022T>G (p.Met341Arg)
4g.154569586T=CA1504935310FGBc.1031T= (p.Met344=)
n.939+279T=
c.374T= (p.Met125=)
c.854T= (p.Met285=)
c.899T= (p.Met300=)
c.746-15T= (n.746-15T=)
c.1022T= (p.Met341=)
4g.154569587G>ACA358514848FGBc.1032G>A (p.Met344Ile)
n.939+280G>A
c.375G>A (p.Met125Ile)
c.855G>A (p.Met285Ile)
c.900G>A (p.Met300Ile)
c.746-14G>A (n.746-14G>A)
c.1023G>A (p.Met341Ile)
4g.154569587G>CCA358514850FGBc.1032G>C (p.Met344Ile)
n.939+280G>C
c.375G>C (p.Met125Ile)
c.855G>C (p.Met285Ile)
c.900G>C (p.Met300Ile)
c.746-14G>C (n.746-14G>C)
c.1023G>C (p.Met341Ile)
4g.154569587G>TCA358514851FGBc.1032G>T (p.Met344Ile)
n.939+280G>T
c.375G>T (p.Met125Ile)
c.855G>T (p.Met285Ile)
c.900G>T (p.Met300Ile)
c.746-14G>T (n.746-14G>T)
c.1023G>T (p.Met341Ile)
COSMIC
4g.154569588G>ACA358514853FGBc.1033G>A (p.Glu345Lys)
n.939+281G>A
c.376G>A (p.Glu126Lys)
c.856G>A (p.Glu286Lys)
c.901G>A (p.Glu301Lys)
c.746-13G>A (n.746-13G>A)
c.1024G>A (p.Glu342Lys)
gnomAD v4
4g.154569588G>CCA358514856FGBc.1033G>C (p.Glu345Gln)
n.939+281G>C
c.376G>C (p.Glu126Gln)
c.856G>C (p.Glu286Gln)
c.901G>C (p.Glu301Gln)
c.746-13G>C (n.746-13G>C)
c.1024G>C (p.Glu342Gln)
dbSNP
4g.154569588G=CA1504935312FGBc.1033G= (p.Glu345=)
n.939+281G=
c.376G= (p.Glu126=)
c.856G= (p.Glu286=)
c.901G= (p.Glu301=)
c.746-13G= (n.746-13G=)
c.1024G= (p.Glu342=)
4g.154569588G>TCA358514855FGBc.1033G>T (p.Glu345Ter)
n.939+281G>T
c.376G>T (p.Glu126Ter)
c.856G>T (p.Glu286Ter)
c.901G>T (p.Glu301Ter)
c.746-13G>T (n.746-13G>T)
c.1024G>T (p.Glu342Ter)
dbSNP
4g.154569589A=CA1504935313FGBc.1034A= (p.Glu345=)
n.939+282A=
c.377A= (p.Glu126=)
c.857A= (p.Glu286=)
c.902A= (p.Glu301=)
c.746-12A= (n.746-12A=)
c.1025A= (p.Glu342=)
4g.154569589A>CCA358514858FGBc.1034A>C (p.Glu345Ala)
n.939+282A>C
c.377A>C (p.Glu126Ala)
c.857A>C (p.Glu286Ala)
c.902A>C (p.Glu301Ala)
c.746-12A>C (n.746-12A>C)
c.1025A>C (p.Glu342Ala)
4g.154569589A>GCA358514859FGBc.1034A>G (p.Glu345Gly)
n.939+282A>G
c.377A>G (p.Glu126Gly)
c.857A>G (p.Glu286Gly)
c.902A>G (p.Glu301Gly)
c.746-12A>G (n.746-12A>G)
c.1025A>G (p.Glu342Gly)
dbSNP gnomAD v3 gnomAD v4
4g.154569589A>TCA358514861FGBc.1034A>T (p.Glu345Val)
n.939+282A>T
c.377A>T (p.Glu126Val)
c.857A>T (p.Glu286Val)
c.902A>T (p.Glu301Val)
c.746-12A>T (n.746-12A>T)
c.1025A>T (p.Glu342Val)
4g.154569590G>ACA108751603FGBc.1035G>A (p.Glu345=)
n.939+283G>A
c.378G>A (p.Glu126=)
c.858G>A (p.Glu286=)
c.903G>A (p.Glu301=)
c.746-11G>A (n.746-11G>A)
c.1026G>A (p.Glu342=)
dbSNP
4g.154569590G>CCA358514863FGBc.1035G>C (p.Glu345Asp)
n.939+283G>C
c.378G>C (p.Glu126Asp)
c.858G>C (p.Glu286Asp)
c.903G>C (p.Glu301Asp)
c.746-11G>C (n.746-11G>C)
c.1026G>C (p.Glu342Asp)
dbSNP gnomAD v2 gnomAD v4
4g.154569590G=CA1504935314FGBc.1035G= (p.Glu345=)
n.939+283G=
c.378G= (p.Glu126=)
c.858G= (p.Glu286=)
c.903G= (p.Glu301=)
c.746-11G= (n.746-11G=)
c.1026G= (p.Glu342=)
4g.154569590G>TCA358514864FGBc.1035G>T (p.Glu345Asp)
n.939+283G>T
c.378G>T (p.Glu126Asp)
c.858G>T (p.Glu286Asp)
c.903G>T (p.Glu301Asp)
c.746-11G>T (n.746-11G>T)
c.1026G>T (p.Glu342Asp)
4g.154569591G>ACA358514866FGBc.1036G>A (p.Asp346Asn)
n.939+284G>A
c.379G>A (p.Asp127Asn)
c.859G>A (p.Asp287Asn)
c.904G>A (p.Asp302Asn)
c.746-10G>A (n.746-10G>A)
c.1027G>A (p.Asp343Asn)
gnomAD v4
4g.154569591G>CCA358514868FGBc.1036G>C (p.Asp346His)
n.939+284G>C
c.379G>C (p.Asp127His)
c.859G>C (p.Asp287His)
c.904G>C (p.Asp302His)
c.746-10G>C (n.746-10G>C)
c.1027G>C (p.Asp343His)
4g.154569591G>TCA358514870FGBc.1036G>T (p.Asp346Tyr)
n.939+284G>T
c.379G>T (p.Asp127Tyr)
c.859G>T (p.Asp287Tyr)
c.904G>T (p.Asp302Tyr)
c.746-10G>T (n.746-10G>T)
c.1027G>T (p.Asp343Tyr)
gnomAD v4
4g.154569592A>CCA358514871FGBc.1037A>C (p.Asp346Ala)
n.939+285A>C
c.380A>C (p.Asp127Ala)
c.860A>C (p.Asp287Ala)
c.905A>C (p.Asp302Ala)
c.746-9A>C (n.746-9A>C)
c.1028A>C (p.Asp343Ala)
4g.154569592A>GCA358514872FGBc.1037A>G (p.Asp346Gly)
n.939+285A>G
c.380A>G (p.Asp127Gly)
c.860A>G (p.Asp287Gly)
c.905A>G (p.Asp302Gly)
c.746-9A>G (n.746-9A>G)
c.1028A>G (p.Asp343Gly)
4g.154569592A>TCA358514874FGBc.1037A>T (p.Asp346Val)
n.939+285A>T
c.380A>T (p.Asp127Val)
c.860A>T (p.Asp287Val)
c.905A>T (p.Asp302Val)
c.746-9A>T (n.746-9A>T)
c.1028A>T (p.Asp343Val)
4g.154569593C>ACA358514876FGBc.1038C>A (p.Asp346Glu)
n.939+286C>A
c.381C>A (p.Asp127Glu)
c.861C>A (p.Asp287Glu)
c.906C>A (p.Asp302Glu)
c.746-8C>A (n.746-8C>A)
c.1029C>A (p.Asp343Glu)
4g.154569593C=CA1504935316FGBc.1038C= (p.Asp346=)
n.939+286C=
c.381C= (p.Asp127=)
c.861C= (p.Asp287=)
c.906C= (p.Asp302=)
c.746-8C= (n.746-8C=)
c.1029C= (p.Asp343=)
4g.154569593C>GCA358514878FGBc.1038C>G (p.Asp346Glu)
n.939+286C>G
c.381C>G (p.Asp127Glu)
c.861C>G (p.Asp287Glu)
c.906C>G (p.Asp302Glu)
c.746-8C>G (n.746-8C>G)
c.1029C>G (p.Asp343Glu)
dbSNP
4g.154569593C>TCA442013232FGBc.1038C>T (p.Asp346=)
n.939+286C>T
c.381C>T (p.Asp127=)
c.861C>T (p.Asp287=)
c.906C>T (p.Asp302=)
c.746-8C>T (n.746-8C>T)
c.1029C>T (p.Asp343=)
4g.154569594T>ACA358514879FGBc.1039T>A (p.Trp347Arg)
n.939+287T>A
c.382T>A (p.Trp128Arg)
c.862T>A (p.Trp288Arg)
c.907T>A (p.Trp303Arg)
c.746-7T>A (n.746-7T>A)
c.1030T>A (p.Trp344Arg)
4g.154569594T>CCA358514881FGBc.1039T>C (p.Trp347Arg)
n.939+287T>C
c.382T>C (p.Trp128Arg)
c.862T>C (p.Trp288Arg)
c.907T>C (p.Trp303Arg)
c.746-7T>C (n.746-7T>C)
c.1030T>C (p.Trp344Arg)
4g.154569594T>GCA358514880FGBc.1039T>G (p.Trp347Gly)
n.939+287T>G
c.382T>G (p.Trp128Gly)
c.862T>G (p.Trp288Gly)
c.907T>G (p.Trp303Gly)
c.746-7T>G (n.746-7T>G)
c.1030T>G (p.Trp344Gly)
4g.154569595G>ACA358514883FGBc.1040G>A (p.Trp347Ter)
n.939+288G>A
c.383G>A (p.Trp128Ter)
c.863G>A (p.Trp288Ter)
c.908G>A (p.Trp303Ter)
c.746-6G>A (n.746-6G>A)
c.1031G>A (p.Trp344Ter)
gnomAD v4 COSMIC
4g.154569595G>CCA358514886FGBc.1040G>C (p.Trp347Ser)
n.939+288G>C
c.383G>C (p.Trp128Ser)
c.863G>C (p.Trp288Ser)
c.908G>C (p.Trp303Ser)
c.746-6G>C (n.746-6G>C)
c.1031G>C (p.Trp344Ser)
4g.154569595G>TCA358514885FGBc.1040G>T (p.Trp347Leu)
n.939+288G>T
c.383G>T (p.Trp128Leu)
c.863G>T (p.Trp288Leu)
c.908G>T (p.Trp303Leu)
c.746-6G>T (n.746-6G>T)
c.1031G>T (p.Trp344Leu)
4g.154569596G>ACA358514888FGBc.1041G>A (p.Trp347Ter)
n.939+289G>A
c.384G>A (p.Trp128Ter)
c.864G>A (p.Trp288Ter)
c.909G>A (p.Trp303Ter)
c.746-5G>A (n.746-5G>A)
c.1032G>A (p.Trp344Ter)
4g.154569596G>CCA358514889FGBc.1041G>C (p.Trp347Cys)
n.939+289G>C
c.384G>C (p.Trp128Cys)
c.864G>C (p.Trp288Cys)
c.909G>C (p.Trp303Cys)
c.746-5G>C (n.746-5G>C)
c.1032G>C (p.Trp344Cys)
4g.154569596G>TCA358514890FGBc.1041G>T (p.Trp347Cys)
n.939+289G>T
c.384G>T (p.Trp128Cys)
c.864G>T (p.Trp288Cys)
c.909G>T (p.Trp303Cys)
c.746-5G>T (n.746-5G>T)
c.1032G>T (p.Trp344Cys)
4g.154569597A>CCA358514892FGBc.1042A>C (p.Lys348Gln)
n.939+290A>C
c.385A>C (p.Lys129Gln)
c.865A>C (p.Lys289Gln)
c.910A>C (p.Lys304Gln)
c.746-4A>C (n.746-4A>C)
c.1033A>C (p.Lys345Gln)
4g.154569597A>GCA358514894FGBc.1042A>G (p.Lys348Glu)
n.939+290A>G
c.385A>G (p.Lys129Glu)
c.865A>G (p.Lys289Glu)
c.910A>G (p.Lys304Glu)
c.746-4A>G (n.746-4A>G)
c.1033A>G (p.Lys345Glu)
4g.154569597A>TCA358514895FGBc.1042A>T (p.Lys348Ter)
n.939+290A>T
c.385A>T (p.Lys129Ter)
c.865A>T (p.Lys289Ter)
c.910A>T (p.Lys304Ter)
c.746-4A>T (n.746-4A>T)
c.1033A>T (p.Lys345Ter)
4g.154569598A>CCA358514897FGBc.1043A>C (p.Lys348Thr)
n.939+291A>C
c.386A>C (p.Lys129Thr)
c.866A>C (p.Lys289Thr)
c.911A>C (p.Lys304Thr)
c.746-3A>C (n.746-3A>C)
c.1034A>C (p.Lys345Thr)
4g.154569598A>GCA358514899FGBc.1043A>G (p.Lys348Arg)
n.939+291A>G
c.386A>G (p.Lys129Arg)
c.866A>G (p.Lys289Arg)
c.911A>G (p.Lys304Arg)
c.746-3A>G (n.746-3A>G)
c.1034A>G (p.Lys345Arg)
4g.154569598A>TCA358514900FGBc.1043A>T (p.Lys348Ile)
n.939+291A>T
c.386A>T (p.Lys129Ile)
c.866A>T (p.Lys289Ile)
c.911A>T (p.Lys304Ile)
c.746-3A>T (n.746-3A>T)
c.1034A>T (p.Lys345Ile)
4g.154569599A>CCA358514902FGBc.1044A>C (p.Lys348Asn)
n.939+292A>C
c.387A>C (p.Lys129Asn)
c.867A>C (p.Lys289Asn)
c.912A>C (p.Lys304Asn)
c.746-2A>C (n.746-2A>C)
c.1035A>C (p.Lys345Asn)
4g.154569599A>GCA442013252FGBc.1044A>G (p.Lys348=)
n.939+292A>G
c.387A>G (p.Lys129=)
c.867A>G (p.Lys289=)
c.912A>G (p.Lys304=)
c.746-2A>G (n.746-2A>G)
c.1035A>G (p.Lys345=)
4g.154569599A>TCA358514904FGBc.1044A>T (p.Lys348Asn)
n.939+292A>T
c.387A>T (p.Lys129Asn)
c.867A>T (p.Lys289Asn)
c.912A>T (p.Lys304Asn)
c.746-2A>T (n.746-2A>T)
c.1035A>T (p.Lys345Asn)
4g.154569600G>ACA3114706FGBc.1045G>A (p.Gly349Arg)
n.939+293G>A
c.388G>A (p.Gly130Arg)
c.868G>A (p.Gly290Arg)
c.913G>A (p.Gly305Arg)
c.746-1G>A (n.746-1G>A)
c.1036G>A (p.Gly346Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569600G>CCA358514907FGBc.1045G>C (p.Gly349Arg)
n.939+293G>C
c.388G>C (p.Gly130Arg)
c.868G>C (p.Gly290Arg)
c.913G>C (p.Gly305Arg)
c.746-1G>C (n.746-1G>C)
c.1036G>C (p.Gly346Arg)
4g.154569600G=CA1504935317FGBc.1045G= (p.Gly349=)
n.939+293G=
c.388G= (p.Gly130=)
c.868G= (p.Gly290=)
c.913G= (p.Gly305=)
c.746-1G= (n.746-1G=)
c.1036G= (p.Gly346=)
4g.154569600G>TCA358514905FGBc.1045G>T (p.Gly349Ter)
n.939+293G>T
c.388G>T (p.Gly130Ter)
c.868G>T (p.Gly290Ter)
c.913G>T (p.Gly305Ter)
c.746-1G>T (n.746-1G>T)
c.1036G>T (p.Gly346Ter)
4g.154569601G>ACA358514908FGBc.1046G>A (p.Gly349Glu)
n.939+294G>A
c.389G>A (p.Gly130Glu)
c.869G>A (p.Gly290Glu)
c.914G>A (p.Gly305Glu)
c.746G>A (p.Gly249Glu)
c.1037G>A (p.Gly346Glu)
COSMIC
4g.154569601G>CCA3114707FGBc.1046G>C (p.Gly349Ala)
n.939+294G>C
c.389G>C (p.Gly130Ala)
c.869G>C (p.Gly290Ala)
c.914G>C (p.Gly305Ala)
c.746G>C (p.Gly249Ala)
c.1037G>C (p.Gly346Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569601G=CA1504935319FGBc.1046G= (p.Gly349=)
n.939+294G=
c.389G= (p.Gly130=)
c.869G= (p.Gly290=)
c.914G= (p.Gly305=)
c.746G= (p.Gly249=)
c.1037G= (p.Gly346=)
4g.154569601G>TCA358514909FGBc.1046G>T (p.Gly349Val)
n.939+294G>T
c.389G>T (p.Gly130Val)
c.869G>T (p.Gly290Val)
c.914G>T (p.Gly305Val)
c.746G>T (p.Gly249Val)
c.1037G>T (p.Gly346Val)
4g.154569602A>CCA442013259FGBc.1047A>C (p.Gly349=)
n.939+295A>C
c.390A>C (p.Gly130=)
c.870A>C (p.Gly290=)
c.915A>C (p.Gly305=)
c.747A>C (p.Gly249=)
c.1038A>C (p.Gly346=)
4g.154569602A>GCA442013260FGBc.1047A>G (p.Gly349=)
n.939+295A>G
c.390A>G (p.Gly130=)
c.870A>G (p.Gly290=)
c.915A>G (p.Gly305=)
c.747A>G (p.Gly249=)
c.1038A>G (p.Gly346=)
4g.154569602A>TCA442013261FGBc.1047A>T (p.Gly349=)
n.939+295A>T
c.390A>T (p.Gly130=)
c.870A>T (p.Gly290=)
c.915A>T (p.Gly305=)
c.747A>T (p.Gly249=)
c.1038A>T (p.Gly346=)
4g.154569602_154569603delinsAGCA1504935320FGBc.1047_1048delinsAG (p.Gly349=)
n.939+295_939+296delinsAG
c.390_391delinsAG (p.Gly130=)
c.870_871delinsAG (p.Gly290=)
c.915_916delinsAG (p.Gly305=)
c.747_748delinsAG (p.Gly249=)
c.1038_1039delinsAG (p.Gly346=)
4g.154569603delCA555971632FGBc.1048del (p.Asp350ThrfsTer3)
n.939+296del
c.391del (p.Asp131ThrfsTer3)
c.871del (p.Asp291ThrfsTer3)
c.916del (p.Asp306ThrfsTer3)
c.748del (p.Asp250ThrfsTer3)
c.1039del (p.Asp347ThrfsTer3)
dbSNP gnomAD v2 gnomAD v4
4g.154569603G>ACA358514911FGBc.1048G>A (p.Asp350Asn)
n.939+296G>A
c.391G>A (p.Asp131Asn)
c.871G>A (p.Asp291Asn)
c.916G>A (p.Asp306Asn)
c.748G>A (p.Asp250Asn)
c.1039G>A (p.Asp347Asn)
dbSNP gnomAD v4
4g.154569603G>CCA358514912FGBc.1048G>C (p.Asp350His)
n.939+296G>C
c.391G>C (p.Asp131His)
c.871G>C (p.Asp291His)
c.916G>C (p.Asp306His)
c.748G>C (p.Asp250His)
c.1039G>C (p.Asp347His)
4g.154569603G=CA1504935322FGBc.1048G= (p.Asp350=)
n.939+296G=
c.391G= (p.Asp131=)
c.871G= (p.Asp291=)
c.916G= (p.Asp306=)
c.748G= (p.Asp250=)
c.1039G= (p.Asp347=)
4g.154569603G>TCA358514913FGBc.1048G>T (p.Asp350Tyr)
n.939+296G>T
c.391G>T (p.Asp131Tyr)
c.871G>T (p.Asp291Tyr)
c.916G>T (p.Asp306Tyr)
c.748G>T (p.Asp250Tyr)
c.1039G>T (p.Asp347Tyr)
4g.154569604A>CCA358514915FGBc.1049A>C (p.Asp350Ala)
n.939+297A>C
c.392A>C (p.Asp131Ala)
c.872A>C (p.Asp291Ala)
c.917A>C (p.Asp306Ala)
c.749A>C (p.Asp250Ala)
c.1040A>C (p.Asp347Ala)
4g.154569604A>GCA358514916FGBc.1049A>G (p.Asp350Gly)
n.939+297A>G
c.392A>G (p.Asp131Gly)
c.872A>G (p.Asp291Gly)
c.917A>G (p.Asp306Gly)
c.749A>G (p.Asp250Gly)
c.1040A>G (p.Asp347Gly)
gnomAD v4
4g.154569604A>TCA358514918FGBc.1049A>T (p.Asp350Val)
n.939+297A>T
c.392A>T (p.Asp131Val)
c.872A>T (p.Asp291Val)
c.917A>T (p.Asp306Val)
c.749A>T (p.Asp250Val)
c.1040A>T (p.Asp347Val)
4g.154569605C>ACA358514920FGBc.1050C>A (p.Asp350Glu)
n.939+298C>A
c.393C>A (p.Asp131Glu)
c.873C>A (p.Asp291Glu)
c.918C>A (p.Asp306Glu)
c.750C>A (p.Asp250Glu)
c.1041C>A (p.Asp347Glu)
dbSNP
4g.154569605C=CA1504935324FGBc.1050C= (p.Asp350=)
n.939+298C=
c.393C= (p.Asp131=)
c.873C= (p.Asp291=)
c.918C= (p.Asp306=)
c.750C= (p.Asp250=)
c.1041C= (p.Asp347=)
4g.154569605C>GCA358514921FGBc.1050C>G (p.Asp350Glu)
n.939+298C>G
c.393C>G (p.Asp131Glu)
c.873C>G (p.Asp291Glu)
c.918C>G (p.Asp306Glu)
c.750C>G (p.Asp250Glu)
c.1041C>G (p.Asp347Glu)
4g.154569605C>TCA3114709FGBc.1050C>T (p.Asp350=)
n.939+298C>T
c.393C>T (p.Asp131=)
c.873C>T (p.Asp291=)
c.918C>T (p.Asp306=)
c.750C>T (p.Asp250=)
c.1041C>T (p.Asp347=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569605_154569610delinsCAAAGTCA1504935326FGBc.1050_1055delinsCAAAGT (p.Asp350=)
n.939+298_939+303delinsCAAAGT
c.393_398delinsCAAAGT (p.Asp131=)
c.873_878delinsCAAAGT (p.Asp291=)
c.918_923delinsCAAAGT (p.Asp306=)
c.750_755delinsCAAAGT (p.Asp250=)
c.1041_1046delinsCAAAGT (p.Asp347=)
4g.154569606A>CCA358514923FGBc.1051A>C (p.Lys351Gln)
n.939+299A>C
c.394A>C (p.Lys132Gln)
c.874A>C (p.Lys292Gln)
c.919A>C (p.Lys307Gln)
c.751A>C (p.Lys251Gln)
c.1042A>C (p.Lys348Gln)
4g.154569606A>GCA358514924FGBc.1051A>G (p.Lys351Glu)
n.939+299A>G
c.394A>G (p.Lys132Glu)
c.874A>G (p.Lys292Glu)
c.919A>G (p.Lys307Glu)
c.751A>G (p.Lys251Glu)
c.1042A>G (p.Lys348Glu)
gnomAD v4
4g.154569606A>TCA358514922FGBc.1051A>T (p.Lys351Ter)
n.939+299A>T
c.394A>T (p.Lys132Ter)
c.874A>T (p.Lys292Ter)
c.919A>T (p.Lys307Ter)
c.751A>T (p.Lys251Ter)
c.1042A>T (p.Lys348Ter)
4g.154569610_154569614delCA3114708FGBc.1055_1059del (p.Val352GlyfsTer11)
n.939+303_939+307del
c.398_402del (p.Val133GlyfsTer11)
c.878_882del (p.Val293GlyfsTer11)
c.923_927del (p.Val308GlyfsTer11)
c.755_759del (p.Val252GlyfsTer11)
c.1046_1050del (p.Val349GlyfsTer11)
c.1055_1059del (p.Val352GlyfsTer18)
dbSNP ExAC gnomAD v2
4g.154569607A>CCA358514926FGBc.1052A>C (p.Lys351Thr)
n.939+300A>C
c.395A>C (p.Lys132Thr)
c.875A>C (p.Lys292Thr)
c.920A>C (p.Lys307Thr)
c.752A>C (p.Lys251Thr)
c.1043A>C (p.Lys348Thr)
4g.154569607A>GCA358514928FGBc.1052A>G (p.Lys351Arg)
n.939+300A>G
c.395A>G (p.Lys132Arg)
c.875A>G (p.Lys292Arg)
c.920A>G (p.Lys307Arg)
c.752A>G (p.Lys251Arg)
c.1043A>G (p.Lys348Arg)
4g.154569607A>TCA358514930FGBc.1052A>T (p.Lys351Ile)
n.939+300A>T
c.395A>T (p.Lys132Ile)
c.875A>T (p.Lys292Ile)
c.920A>T (p.Lys307Ile)
c.752A>T (p.Lys251Ile)
c.1043A>T (p.Lys348Ile)
4g.154569608A=CA1504935329FGBc.1053A= (p.Lys351=)
n.939+301A=
c.396A= (p.Lys132=)
c.876A= (p.Lys292=)
c.921A= (p.Lys307=)
c.753A= (p.Lys251=)
c.1044A= (p.Lys348=)
4g.154569608A>CCA358514931FGBc.1053A>C (p.Lys351Asn)
n.939+301A>C
c.396A>C (p.Lys132Asn)
c.876A>C (p.Lys292Asn)
c.921A>C (p.Lys307Asn)
c.753A>C (p.Lys251Asn)
c.1044A>C (p.Lys348Asn)
gnomAD v4
4g.154569608A>GCA442013285FGBc.1053A>G (p.Lys351=)
n.939+301A>G
c.396A>G (p.Lys132=)
c.876A>G (p.Lys292=)
c.921A>G (p.Lys307=)
c.753A>G (p.Lys251=)
c.1044A>G (p.Lys348=)
dbSNP
4g.154569608A>TCA358514932FGBc.1053A>T (p.Lys351Asn)
n.939+301A>T
c.396A>T (p.Lys132Asn)
c.876A>T (p.Lys292Asn)
c.921A>T (p.Lys307Asn)
c.753A>T (p.Lys251Asn)
c.1044A>T (p.Lys348Asn)
4g.154569609G>ACA358514935FGBc.1054G>A (p.Val352Ile)
n.939+302G>A
c.397G>A (p.Val133Ile)
c.877G>A (p.Val293Ile)
c.922G>A (p.Val308Ile)
c.754G>A (p.Val252Ile)
c.1045G>A (p.Val349Ile)
4g.154569609G>CCA358514937FGBc.1054G>C (p.Val352Leu)
n.939+302G>C
c.397G>C (p.Val133Leu)
c.877G>C (p.Val293Leu)
c.922G>C (p.Val308Leu)
c.754G>C (p.Val252Leu)
c.1045G>C (p.Val349Leu)
4g.154569609G>TCA358514938FGBc.1054G>T (p.Val352Leu)
n.939+302G>T
c.397G>T (p.Val133Leu)
c.877G>T (p.Val293Leu)
c.922G>T (p.Val308Leu)
c.754G>T (p.Val252Leu)
c.1045G>T (p.Val349Leu)
4g.154569610T>ACA358514940FGBc.1055T>A (p.Val352Glu)
n.939+303T>A
c.398T>A (p.Val133Glu)
c.878T>A (p.Val293Glu)
c.923T>A (p.Val308Glu)
c.755T>A (p.Val252Glu)
c.1046T>A (p.Val349Glu)
4g.154569610T>CCA358514942FGBc.1055T>C (p.Val352Ala)
n.939+303T>C
c.398T>C (p.Val133Ala)
c.878T>C (p.Val293Ala)
c.923T>C (p.Val308Ala)
c.755T>C (p.Val252Ala)
c.1046T>C (p.Val349Ala)
4g.154569610T>GCA358514943FGBc.1055T>G (p.Val352Gly)
n.939+303T>G
c.398T>G (p.Val133Gly)
c.878T>G (p.Val293Gly)
c.923T>G (p.Val308Gly)
c.755T>G (p.Val252Gly)
c.1046T>G (p.Val349Gly)
4g.154569611A=CA1504935331FGBc.1056A= (p.Val352=)
n.939+304A=
c.399A= (p.Val133=)
c.879A= (p.Val293=)
c.924A= (p.Val308=)
c.756A= (p.Val252=)
c.1047A= (p.Val349=)
4g.154569611A>CCA442013293FGBc.1056A>C (p.Val352=)
n.939+304A>C
c.399A>C (p.Val133=)
c.879A>C (p.Val293=)
c.924A>C (p.Val308=)
c.756A>C (p.Val252=)
c.1047A>C (p.Val349=)
4g.154569611A>GCA442013294FGBc.1056A>G (p.Val352=)
n.939+304A>G
c.399A>G (p.Val133=)
c.879A>G (p.Val293=)
c.924A>G (p.Val308=)
c.756A>G (p.Val252=)
c.1047A>G (p.Val349=)
dbSNP
4g.154569611A>TCA442013295FGBc.1056A>T (p.Val352=)
n.939+304A>T
c.399A>T (p.Val133=)
c.879A>T (p.Val293=)
c.924A>T (p.Val308=)
c.756A>T (p.Val252=)
c.1047A>T (p.Val349=)
4g.154569612A>CCA358514947FGBc.1057A>C (p.Lys353Gln)
n.939+305A>C
c.400A>C (p.Lys134Gln)
c.880A>C (p.Lys294Gln)
c.925A>C (p.Lys309Gln)
c.757A>C (p.Lys253Gln)
c.1048A>C (p.Lys350Gln)
4g.154569612A>GCA358514948FGBc.1057A>G (p.Lys353Glu)
n.939+305A>G
c.400A>G (p.Lys134Glu)
c.880A>G (p.Lys294Glu)
c.925A>G (p.Lys309Glu)
c.757A>G (p.Lys253Glu)
c.1048A>G (p.Lys350Glu)
4g.154569612A>TCA358514945FGBc.1057A>T (p.Lys353Ter)
n.939+305A>T
c.400A>T (p.Lys134Ter)
c.880A>T (p.Lys294Ter)
c.925A>T (p.Lys309Ter)
c.757A>T (p.Lys253Ter)
c.1048A>T (p.Lys350Ter)
4g.154569613A=CA1504935334FGBc.1058A= (p.Lys353=)
n.939+306A=
c.401A= (p.Lys134=)
c.881A= (p.Lys294=)
c.926A= (p.Lys309=)
c.758A= (p.Lys253=)
c.1049A= (p.Lys350=)
4g.154569613A>CCA358514949FGBc.1058A>C (p.Lys353Thr)
n.939+306A>C
c.401A>C (p.Lys134Thr)
c.881A>C (p.Lys294Thr)
c.926A>C (p.Lys309Thr)
c.758A>C (p.Lys253Thr)
c.1049A>C (p.Lys350Thr)
gnomAD v4
4g.154569613A>GCA3114710FGBc.1058A>G (p.Lys353Arg)
n.939+306A>G
c.401A>G (p.Lys134Arg)
c.881A>G (p.Lys294Arg)
c.926A>G (p.Lys309Arg)
c.758A>G (p.Lys253Arg)
c.1049A>G (p.Lys350Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569613A>TCA358514951FGBc.1058A>T (p.Lys353Met)
n.939+306A>T
c.401A>T (p.Lys134Met)
c.881A>T (p.Lys294Met)
c.926A>T (p.Lys309Met)
c.758A>T (p.Lys253Met)
c.1049A>T (p.Lys350Met)
4g.154569614G>ACA442013297FGBc.1059G>A (p.Lys353=)
n.939+307G>A
c.402G>A (p.Lys134=)
c.882G>A (p.Lys294=)
c.927G>A (p.Lys309=)
c.759G>A (p.Lys253=)
c.1050G>A (p.Lys350=)
gnomAD v4
4g.154569614G>CCA3114711FGBc.1059G>C (p.Lys353Asn)
n.939+307G>C
c.402G>C (p.Lys134Asn)
c.882G>C (p.Lys294Asn)
c.927G>C (p.Lys309Asn)
c.759G>C (p.Lys253Asn)
c.1050G>C (p.Lys350Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569614G=CA1504935336FGBc.1059G= (p.Lys353=)
n.939+307G=
c.402G= (p.Lys134=)
c.882G= (p.Lys294=)
c.927G= (p.Lys309=)
c.759G= (p.Lys253=)
c.1050G= (p.Lys350=)
4g.154569614G>TCA358514953FGBc.1059G>T (p.Lys353Asn)
n.939+307G>T
c.402G>T (p.Lys134Asn)
c.882G>T (p.Lys294Asn)
c.927G>T (p.Lys309Asn)
c.759G>T (p.Lys253Asn)
c.1050G>T (p.Lys350Asn)
4g.154569615G>ACA358514957FGBc.1060G>A (p.Ala354Thr)
n.939+308G>A
c.403G>A (p.Ala135Thr)
c.883G>A (p.Ala295Thr)
c.928G>A (p.Ala310Thr)
c.760G>A (p.Ala254Thr)
c.1051G>A (p.Ala351Thr)
dbSNP gnomAD v3 gnomAD v4
4g.154569615G>CCA358514954FGBc.1060G>C (p.Ala354Pro)
n.939+308G>C
c.403G>C (p.Ala135Pro)
c.883G>C (p.Ala295Pro)
c.928G>C (p.Ala310Pro)
c.760G>C (p.Ala254Pro)
c.1051G>C (p.Ala351Pro)
gnomAD v4
4g.154569615G>TCA358514955FGBc.1060G>T (p.Ala354Ser)
n.939+308G>T
c.403G>T (p.Ala135Ser)
c.883G>T (p.Ala295Ser)
c.928G>T (p.Ala310Ser)
c.760G>T (p.Ala254Ser)
c.1051G>T (p.Ala351Ser)
4g.154569616C>ACA358514959FGBc.1061C>A (p.Ala354Asp)
n.939+309C>A
c.404C>A (p.Ala135Asp)
c.884C>A (p.Ala295Asp)
c.929C>A (p.Ala310Asp)
c.761C>A (p.Ala254Asp)
c.1052C>A (p.Ala351Asp)
4g.154569616C>GCA358514960FGBc.1061C>G (p.Ala354Gly)
n.939+309C>G
c.404C>G (p.Ala135Gly)
c.884C>G (p.Ala295Gly)
c.929C>G (p.Ala310Gly)
c.761C>G (p.Ala254Gly)
c.1052C>G (p.Ala351Gly)
4g.154569616C>TCA358514962FGBc.1061C>T (p.Ala354Val)
n.939+309C>T
c.404C>T (p.Ala135Val)
c.884C>T (p.Ala295Val)
c.929C>T (p.Ala310Val)
c.761C>T (p.Ala254Val)
c.1052C>T (p.Ala351Val)
gnomAD v4
4g.154569617T>ACA442013307FGBc.1062T>A (p.Ala354=)
n.939+310T>A
c.405T>A (p.Ala135=)
c.885T>A (p.Ala295=)
c.930T>A (p.Ala310=)
c.762T>A (p.Ala254=)
c.1053T>A (p.Ala351=)
dbSNP
4g.154569617T>CCA442013309FGBc.1062T>C (p.Ala354=)
n.939+310T>C
c.405T>C (p.Ala135=)
c.885T>C (p.Ala295=)
c.930T>C (p.Ala310=)
c.762T>C (p.Ala254=)
c.1053T>C (p.Ala351=)
4g.154569617T>GCA442013306FGBc.1062T>G (p.Ala354=)
n.939+310T>G
c.405T>G (p.Ala135=)
c.885T>G (p.Ala295=)
c.930T>G (p.Ala310=)
c.762T>G (p.Ala254=)
c.1053T>G (p.Ala351=)
4g.154569617T=CA1504935338FGBc.1062T= (p.Ala354=)
n.939+310T=
c.405T= (p.Ala135=)
c.885T= (p.Ala295=)
c.930T= (p.Ala310=)
c.762T= (p.Ala254=)
c.1053T= (p.Ala351=)
4g.154569618C>ACA358514964FGBc.1063C>A (p.His355Asn)
n.939+311C>A
c.406C>A (p.His136Asn)
c.886C>A (p.His296Asn)
c.931C>A (p.His311Asn)
c.763C>A (p.His255Asn)
c.1054C>A (p.His352Asn)
4g.154569618C>GCA358514966FGBc.1063C>G (p.His355Asp)
n.939+311C>G
c.406C>G (p.His136Asp)
c.886C>G (p.His296Asp)
c.931C>G (p.His311Asp)
c.763C>G (p.His255Asp)
c.1054C>G (p.His352Asp)
4g.154569618C>TCA358514967FGBc.1063C>T (p.His355Tyr)
n.939+311C>T
c.406C>T (p.His136Tyr)
c.886C>T (p.His296Tyr)
c.931C>T (p.His311Tyr)
c.763C>T (p.His255Tyr)
c.1054C>T (p.His352Tyr)
4g.154569619A>CCA358514973FGBc.1064A>C (p.His355Pro)
n.939+312A>C
c.407A>C (p.His136Pro)
c.887A>C (p.His296Pro)
c.932A>C (p.His311Pro)
c.764A>C (p.His255Pro)
c.1055A>C (p.His352Pro)
gnomAD v4
4g.154569619A>GCA358514971FGBc.1064A>G (p.His355Arg)
n.939+312A>G
c.407A>G (p.His136Arg)
c.887A>G (p.His296Arg)
c.932A>G (p.His311Arg)
c.764A>G (p.His255Arg)
c.1055A>G (p.His352Arg)
4g.154569619A>TCA358514969FGBc.1064A>T (p.His355Leu)
n.939+312A>T
c.407A>T (p.His136Leu)
c.887A>T (p.His296Leu)
c.932A>T (p.His311Leu)
c.764A>T (p.His255Leu)
c.1055A>T (p.His352Leu)
4g.154569620C>ACA358514976FGBc.1065C>A (p.His355Gln)
n.939+313C>A
c.408C>A (p.His136Gln)
c.888C>A (p.His296Gln)
c.933C>A (p.His311Gln)
c.765C>A (p.His255Gln)
c.1056C>A (p.His352Gln)
4g.154569620C=CA1504935340FGBc.1065C= (p.His355=)
n.939+313C=
c.408C= (p.His136=)
c.888C= (p.His296=)
c.933C= (p.His311=)
c.765C= (p.His255=)
c.1056C= (p.His352=)
4g.154569620C>GCA358514975FGBc.1065C>G (p.His355Gln)
n.939+313C>G
c.408C>G (p.His136Gln)
c.888C>G (p.His296Gln)
c.933C>G (p.His311Gln)
c.765C>G (p.His255Gln)
c.1056C>G (p.His352Gln)
gnomAD v4
4g.154569620C>TCA442013314FGBc.1065C>T (p.His355=)
n.939+313C>T
c.408C>T (p.His136=)
c.888C>T (p.His296=)
c.933C>T (p.His311=)
c.765C>T (p.His255=)
c.1056C>T (p.His352=)
dbSNP gnomAD v4
4g.154569620_154569621insCAAAAACA3114713FGBc.1065_1066insCAAAAA (p.His355_Tyr356insGlnLys)
n.939+313_939+314insCAAAAA
c.408_409insCAAAAA (p.His136_Tyr137insGlnLys)
c.888_889insCAAAAA (p.His296_Tyr297insGlnLys)
c.933_934insCAAAAA (p.His311_Tyr312insGlnLys)
c.765_766insCAAAAA (p.His255_Tyr256insGlnLys)
c.1056_1057insCAAAAA (p.His352_Tyr353insGlnLys)
dbSNP ExAC gnomAD v2
4g.154569620_154569621insCAAAAATAAAATTTCA3114712FGBc.1065_1066insCAAAAATAAAATTT (p.Tyr356GlnfsTer3)
n.939+313_939+314insCAAAAATAAAATTT
c.408_409insCAAAAATAAAATTT (p.Tyr137GlnfsTer3)
c.888_889insCAAAAATAAAATTT (p.Tyr297GlnfsTer3)
c.933_934insCAAAAATAAAATTT (p.Tyr312GlnfsTer3)
c.765_766insCAAAAATAAAATTT (p.Tyr256GlnfsTer3)
c.1056_1057insCAAAAATAAAATTT (p.Tyr353GlnfsTer3)
dbSNP ExAC
4g.154569621T>ACA358514978FGBc.1066T>A (p.Tyr356Asn)
n.939+314T>A
c.409T>A (p.Tyr137Asn)
c.889T>A (p.Tyr297Asn)
c.934T>A (p.Tyr312Asn)
c.766T>A (p.Tyr256Asn)
c.1057T>A (p.Tyr353Asn)
4g.154569621T>CCA358514980FGBc.1066T>C (p.Tyr356His)
n.939+314T>C
c.409T>C (p.Tyr137His)
c.889T>C (p.Tyr297His)
c.934T>C (p.Tyr312His)
c.766T>C (p.Tyr256His)
c.1057T>C (p.Tyr353His)
4g.154569621T>GCA358514982FGBc.1066T>G (p.Tyr356Asp)
n.939+314T>G
c.409T>G (p.Tyr137Asp)
c.889T>G (p.Tyr297Asp)
c.934T>G (p.Tyr312Asp)
c.766T>G (p.Tyr256Asp)
c.1057T>G (p.Tyr353Asp)
4g.154569622A=CA1504935344FGBc.1067A= (p.Tyr356=)
n.939+315A=
c.410A= (p.Tyr137=)
c.890A= (p.Tyr297=)
c.935A= (p.Tyr312=)
c.767A= (p.Tyr256=)
c.1058A= (p.Tyr353=)
4g.154569622A>CCA358514985FGBc.1067A>C (p.Tyr356Ser)
n.939+315A>C
c.410A>C (p.Tyr137Ser)
c.890A>C (p.Tyr297Ser)
c.935A>C (p.Tyr312Ser)
c.767A>C (p.Tyr256Ser)
c.1058A>C (p.Tyr353Ser)
4g.154569622A>GCA358514987FGBc.1067A>G (p.Tyr356Cys)
n.939+315A>G
c.410A>G (p.Tyr137Cys)
c.890A>G (p.Tyr297Cys)
c.935A>G (p.Tyr312Cys)
c.767A>G (p.Tyr256Cys)
c.1058A>G (p.Tyr353Cys)
gnomAD v4
4g.154569622A>TCA358514989FGBc.1067A>T (p.Tyr356Phe)
n.939+315A>T
c.410A>T (p.Tyr137Phe)
c.890A>T (p.Tyr297Phe)
c.935A>T (p.Tyr312Phe)
c.767A>T (p.Tyr256Phe)
c.1058A>T (p.Tyr353Phe)
4g.154569622_154569623insAAATTTCA3114714FGBc.1067_1068insAAATTT (p.Tyr356Ter)
n.939+315_939+316insAAATTT
c.410_411insAAATTT (p.Tyr137Ter)
c.890_891insAAATTT (p.Tyr297Ter)
c.935_936insAAATTT (p.Tyr312Ter)
c.767_768insAAATTT (p.Tyr256Ter)
c.1058_1059insAAATTT (p.Tyr353Ter)
dbSNP ExAC gnomAD v2
4g.154569623T>ACA358514990FGBc.1068T>A (p.Tyr356Ter)
n.939+316T>A
c.411T>A (p.Tyr137Ter)
c.891T>A (p.Tyr297Ter)
c.936T>A (p.Tyr312Ter)
c.768T>A (p.Tyr256Ter)
c.1059T>A (p.Tyr353Ter)
4g.154569623T>CCA442013320FGBc.1068T>C (p.Tyr356=)
n.939+316T>C
c.411T>C (p.Tyr137=)
c.891T>C (p.Tyr297=)
c.936T>C (p.Tyr312=)
c.768T>C (p.Tyr256=)
c.1059T>C (p.Tyr353=)
dbSNP gnomAD v2 gnomAD v4
4g.154569623T>GCA358514992FGBc.1068T>G (p.Tyr356Ter)
n.939+316T>G
c.411T>G (p.Tyr137Ter)
c.891T>G (p.Tyr297Ter)
c.936T>G (p.Tyr312Ter)
c.768T>G (p.Tyr256Ter)
c.1059T>G (p.Tyr353Ter)
4g.154569623T=CA1504935348FGBc.1068T= (p.Tyr356=)
n.939+316T=
c.411T= (p.Tyr137=)
c.891T= (p.Tyr297=)
c.936T= (p.Tyr312=)
c.768T= (p.Tyr256=)
c.1059T= (p.Tyr353=)
4g.154569624G>ACA3114715FGBc.1069G>A (p.Gly357Arg)
n.939+317G>A
c.412G>A (p.Gly138Arg)
c.892G>A (p.Gly298Arg)
c.937G>A (p.Gly313Arg)
c.769G>A (p.Gly257Arg)
c.1060G>A (p.Gly354Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569624G>CCA358514994FGBc.1069G>C (p.Gly357Arg)
n.939+317G>C
c.412G>C (p.Gly138Arg)
c.892G>C (p.Gly298Arg)
c.937G>C (p.Gly313Arg)
c.769G>C (p.Gly257Arg)
c.1060G>C (p.Gly354Arg)
4g.154569624G=CA1504935352FGBc.1069G= (p.Gly357=)
n.939+317G=
c.412G= (p.Gly138=)
c.892G= (p.Gly298=)
c.937G= (p.Gly313=)
c.769G= (p.Gly257=)
c.1060G= (p.Gly354=)
4g.154569624G>TCA358514996FGBc.1069G>T (p.Gly357Ter)
n.939+317G>T
c.412G>T (p.Gly138Ter)
c.892G>T (p.Gly298Ter)
c.937G>T (p.Gly313Ter)
c.769G>T (p.Gly257Ter)
c.1060G>T (p.Gly354Ter)
4g.154569625G>ACA358515000FGBc.1070G>A (p.Gly357Glu)
n.939+318G>A
c.413G>A (p.Gly138Glu)
c.893G>A (p.Gly298Glu)
c.938G>A (p.Gly313Glu)
c.770G>A (p.Gly257Glu)
c.1061G>A (p.Gly354Glu)
4g.154569625G>CCA358514998FGBc.1070G>C (p.Gly357Ala)
n.939+318G>C
c.413G>C (p.Gly138Ala)
c.893G>C (p.Gly298Ala)
c.938G>C (p.Gly313Ala)
c.770G>C (p.Gly257Ala)
c.1061G>C (p.Gly354Ala)
4g.154569625G>TCA358514999FGBc.1070G>T (p.Gly357Val)
n.939+318G>T
c.413G>T (p.Gly138Val)
c.893G>T (p.Gly298Val)
c.938G>T (p.Gly313Val)
c.770G>T (p.Gly257Val)
c.1061G>T (p.Gly354Val)
4g.154569626A>CCA442013328FGBc.1071A>C (p.Gly357=)
n.939+319A>C
c.414A>C (p.Gly138=)
c.894A>C (p.Gly298=)
c.939A>C (p.Gly313=)
c.771A>C (p.Gly257=)
c.1062A>C (p.Gly354=)
4g.154569626A>GCA442013329FGBc.1071A>G (p.Gly357=)
n.939+319A>G
c.414A>G (p.Gly138=)
c.894A>G (p.Gly298=)
c.939A>G (p.Gly313=)
c.771A>G (p.Gly257=)
c.1062A>G (p.Gly354=)
4g.154569626A>TCA442013327FGBc.1071A>T (p.Gly357=)
n.939+319A>T
c.414A>T (p.Gly138=)
c.894A>T (p.Gly298=)
c.939A>T (p.Gly313=)
c.771A>T (p.Gly257=)
c.1062A>T (p.Gly354=)
4g.154569627G>ACA3114716FGBc.1072G>A (p.Gly358Arg)
n.939+320G>A
c.415G>A (p.Gly139Arg)
c.895G>A (p.Gly299Arg)
c.940G>A (p.Gly314Arg)
c.772G>A (p.Gly258Arg)
c.1063G>A (p.Gly355Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569627G>CCA358515002FGBc.1072G>C (p.Gly358Arg)
n.939+320G>C
c.415G>C (p.Gly139Arg)
c.895G>C (p.Gly299Arg)
c.940G>C (p.Gly314Arg)
c.772G>C (p.Gly258Arg)
c.1063G>C (p.Gly355Arg)
4g.154569627G=CA1504935356FGBc.1072G= (p.Gly358=)
n.939+320G=
c.415G= (p.Gly139=)
c.895G= (p.Gly299=)
c.940G= (p.Gly314=)
c.772G= (p.Gly258=)
c.1063G= (p.Gly355=)
4g.154569627G>TCA358515004FGBc.1072G>T (p.Gly358Ter)
n.939+320G>T
c.415G>T (p.Gly139Ter)
c.895G>T (p.Gly299Ter)
c.940G>T (p.Gly314Ter)
c.772G>T (p.Gly258Ter)
c.1063G>T (p.Gly355Ter)
4g.154569628G>ACA358515006FGBc.1073G>A (p.Gly358Glu)
n.939+321G>A
c.416G>A (p.Gly139Glu)
c.896G>A (p.Gly299Glu)
c.941G>A (p.Gly314Glu)
c.773G>A (p.Gly258Glu)
c.1064G>A (p.Gly355Glu)
gnomAD v4
4g.154569628G>CCA358515007FGBc.1073G>C (p.Gly358Ala)
n.939+321G>C
c.416G>C (p.Gly139Ala)
c.896G>C (p.Gly299Ala)
c.941G>C (p.Gly314Ala)
c.773G>C (p.Gly258Ala)
c.1064G>C (p.Gly355Ala)
4g.154569628G>TCA358515009FGBc.1073G>T (p.Gly358Val)
n.939+321G>T
c.416G>T (p.Gly139Val)
c.896G>T (p.Gly299Val)
c.941G>T (p.Gly314Val)
c.773G>T (p.Gly258Val)
c.1064G>T (p.Gly355Val)
4g.154569629A=CA1504935361FGBc.1074A= (p.Gly358=)
n.939+322A=
c.417A= (p.Gly139=)
c.897A= (p.Gly299=)
c.942A= (p.Gly314=)
c.774A= (p.Gly258=)
c.1065A= (p.Gly355=)
4g.154569629A>CCA442013336FGBc.1074A>C (p.Gly358=)
n.939+322A>C
c.417A>C (p.Gly139=)
c.897A>C (p.Gly299=)
c.942A>C (p.Gly314=)
c.774A>C (p.Gly258=)
c.1065A>C (p.Gly355=)
dbSNP
4g.154569629A>GCA442013338FGBc.1074A>G (p.Gly358=)
n.939+322A>G
c.417A>G (p.Gly139=)
c.897A>G (p.Gly299=)
c.942A>G (p.Gly314=)
c.774A>G (p.Gly258=)
c.1065A>G (p.Gly355=)
4g.154569629A>TCA442013341FGBc.1074A>T (p.Gly358=)
n.939+322A>T
c.417A>T (p.Gly139=)
c.897A>T (p.Gly299=)
c.942A>T (p.Gly314=)
c.774A>T (p.Gly258=)
c.1065A>T (p.Gly355=)
4g.154569630T>ACA358515011FGBc.1075T>A (p.Phe359Ile)
n.939+323T>A
c.418T>A (p.Phe140Ile)
c.898T>A (p.Phe300Ile)
c.943T>A (p.Phe315Ile)
c.775T>A (p.Phe259Ile)
c.1066T>A (p.Phe356Ile)
4g.154569630T>CCA358515013FGBc.1075T>C (p.Phe359Leu)
n.939+323T>C
c.418T>C (p.Phe140Leu)
c.898T>C (p.Phe300Leu)
c.943T>C (p.Phe315Leu)
c.775T>C (p.Phe259Leu)
c.1066T>C (p.Phe356Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569630T>GCA358515014FGBc.1075T>G (p.Phe359Val)
n.939+323T>G
c.418T>G (p.Phe140Val)
c.898T>G (p.Phe300Val)
c.943T>G (p.Phe315Val)
c.775T>G (p.Phe259Val)
c.1066T>G (p.Phe356Val)
4g.154569630T=CA1504935364FGBc.1075T= (p.Phe359=)
n.939+323T=
c.418T= (p.Phe140=)
c.898T= (p.Phe300=)
c.943T= (p.Phe315=)
c.775T= (p.Phe259=)
c.1066T= (p.Phe356=)
4g.154569631T>ACA358515015FGBc.1076T>A (p.Phe359Tyr)
n.939+324T>A
c.419T>A (p.Phe140Tyr)
c.899T>A (p.Phe300Tyr)
c.944T>A (p.Phe315Tyr)
c.776T>A (p.Phe259Tyr)
c.1067T>A (p.Phe356Tyr)
4g.154569631T>CCA358515017FGBc.1076T>C (p.Phe359Ser)
n.939+324T>C
c.419T>C (p.Phe140Ser)
c.899T>C (p.Phe300Ser)
c.944T>C (p.Phe315Ser)
c.776T>C (p.Phe259Ser)
c.1067T>C (p.Phe356Ser)
4g.154569631T>GCA358515020FGBc.1076T>G (p.Phe359Cys)
n.939+324T>G
c.419T>G (p.Phe140Cys)
c.899T>G (p.Phe300Cys)
c.944T>G (p.Phe315Cys)
c.776T>G (p.Phe259Cys)
c.1067T>G (p.Phe356Cys)
4g.154569632C>ACA358515022FGBc.1077C>A (p.Phe359Leu)
n.939+325C>A
c.420C>A (p.Phe140Leu)
c.900C>A (p.Phe300Leu)
c.945C>A (p.Phe315Leu)
c.777C>A (p.Phe259Leu)
c.1068C>A (p.Phe356Leu)
4g.154569632C>GCA358515024FGBc.1077C>G (p.Phe359Leu)
n.939+325C>G
c.420C>G (p.Phe140Leu)
c.900C>G (p.Phe300Leu)
c.945C>G (p.Phe315Leu)
c.777C>G (p.Phe259Leu)
c.1068C>G (p.Phe356Leu)
4g.154569632C>TCA442013348FGBc.1077C>T (p.Phe359=)
n.939+325C>T
c.420C>T (p.Phe140=)
c.900C>T (p.Phe300=)
c.945C>T (p.Phe315=)
c.777C>T (p.Phe259=)
c.1068C>T (p.Phe356=)
4g.154569633A=CA1504935368FGBc.1078A= (p.Thr360=)
n.939+326A=
c.421A= (p.Thr141=)
c.901A= (p.Thr301=)
c.946A= (p.Thr316=)
c.778A= (p.Thr260=)
c.1069A= (p.Thr357=)
4g.154569633A>CCA358515029FGBc.1078A>C (p.Thr360Pro)
n.939+326A>C
c.421A>C (p.Thr141Pro)
c.901A>C (p.Thr301Pro)
c.946A>C (p.Thr316Pro)
c.778A>C (p.Thr260Pro)
c.1069A>C (p.Thr357Pro)
4g.154569633A>GCA358515031FGBc.1078A>G (p.Thr360Ala)
n.939+326A>G
c.421A>G (p.Thr141Ala)
c.901A>G (p.Thr301Ala)
c.946A>G (p.Thr316Ala)
c.778A>G (p.Thr260Ala)
c.1069A>G (p.Thr357Ala)
dbSNP gnomAD v2 gnomAD v4
4g.154569633A>TCA358515032FGBc.1078A>T (p.Thr360Ser)
n.939+326A>T
c.421A>T (p.Thr141Ser)
c.901A>T (p.Thr301Ser)
c.946A>T (p.Thr316Ser)
c.778A>T (p.Thr260Ser)
c.1069A>T (p.Thr357Ser)
4g.154569634C>ACA358515034FGBc.1079C>A (p.Thr360Asn)
n.939+327C>A
c.422C>A (p.Thr141Asn)
c.902C>A (p.Thr301Asn)
c.947C>A (p.Thr316Asn)
c.779C>A (p.Thr260Asn)
c.1070C>A (p.Thr357Asn)
4g.154569634C=CA1504935371FGBc.1079C= (p.Thr360=)
n.939+327C=
c.422C= (p.Thr141=)
c.902C= (p.Thr301=)
c.947C= (p.Thr316=)
c.779C= (p.Thr260=)
c.1070C= (p.Thr357=)
4g.154569634C>GCA358515036FGBc.1079C>G (p.Thr360Ser)
n.939+327C>G
c.422C>G (p.Thr141Ser)
c.902C>G (p.Thr301Ser)
c.947C>G (p.Thr316Ser)
c.779C>G (p.Thr260Ser)
c.1070C>G (p.Thr357Ser)
4g.154569634C>TCA3114717FGBc.1079C>T (p.Thr360Ile)
n.939+327C>T
c.422C>T (p.Thr141Ile)
c.902C>T (p.Thr301Ile)
c.947C>T (p.Thr316Ile)
c.779C>T (p.Thr260Ile)
c.1070C>T (p.Thr357Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569635T>ACA442013353FGBc.1080T>A (p.Thr360=)
n.939+328T>A
c.423T>A (p.Thr141=)
c.903T>A (p.Thr301=)
c.948T>A (p.Thr316=)
c.780T>A (p.Thr260=)
c.1071T>A (p.Thr357=)
4g.154569635T>CCA442013354FGBc.1080T>C (p.Thr360=)
n.939+328T>C
c.423T>C (p.Thr141=)
c.903T>C (p.Thr301=)
c.948T>C (p.Thr316=)
c.780T>C (p.Thr260=)
c.1071T>C (p.Thr357=)
gnomAD v4
4g.154569635T>GCA442013355FGBc.1080T>G (p.Thr360=)
n.939+328T>G
c.423T>G (p.Thr141=)
c.903T>G (p.Thr301=)
c.948T>G (p.Thr316=)
c.780T>G (p.Thr260=)
c.1071T>G (p.Thr357=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569635T=CA1504935375FGBc.1080T= (p.Thr360=)
n.939+328T=
c.423T= (p.Thr141=)
c.903T= (p.Thr301=)
c.948T= (p.Thr316=)
c.780T= (p.Thr260=)
c.1071T= (p.Thr357=)
4g.154569636G>ACA358515038FGBc.1081G>A (p.Val361Ile)
n.939+329G>A
c.424G>A (p.Val142Ile)
c.904G>A (p.Val302Ile)
c.949G>A (p.Val317Ile)
c.781G>A (p.Val261Ile)
c.1072G>A (p.Val358Ile)
c.1080+1G>A (n.1080+1G>A)
dbSNP gnomAD v4
4g.154569636G>CCA358515040FGBc.1081G>C (p.Val361Leu)
n.939+329G>C
c.424G>C (p.Val142Leu)
c.904G>C (p.Val302Leu)
c.949G>C (p.Val317Leu)
c.781G>C (p.Val261Leu)
c.1072G>C (p.Val358Leu)
c.1080+1G>C (n.1080+1G>C)
4g.154569636G=CA1504935378FGBc.1081G= (p.Val361=)
n.939+329G=
c.424G= (p.Val142=)
c.904G= (p.Val302=)
c.949G= (p.Val317=)
c.781G= (p.Val261=)
c.1072G= (p.Val358=)
c.1080+1G= (n.1080+1G=)
4g.154569636G>TCA3114718FGBc.1081G>T (p.Val361Leu)
n.939+329G>T
c.424G>T (p.Val142Leu)
c.904G>T (p.Val302Leu)
c.949G>T (p.Val317Leu)
c.781G>T (p.Val261Leu)
c.1072G>T (p.Val358Leu)
c.1080+1G>T (n.1080+1G>T)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.154569637T>ACA358515042FGBc.1082T>A (p.Val361Glu)
n.939+330T>A
c.425T>A (p.Val142Glu)
c.905T>A (p.Val302Glu)
c.950T>A (p.Val317Glu)
c.782T>A (p.Val261Glu)
c.1073T>A (p.Val358Glu)
c.1080+2T>A (n.1080+2T>A)
4g.154569637T>CCA358515043FGBc.1082T>C (p.Val361Ala)
n.939+330T>C
c.425T>C (p.Val142Ala)
c.905T>C (p.Val302Ala)
c.950T>C (p.Val317Ala)
c.782T>C (p.Val261Ala)
c.1073T>C (p.Val358Ala)
c.1080+2T>C (n.1080+2T>C)
4g.154569637T>GCA358515045FGBc.1082T>G (p.Val361Gly)
n.939+330T>G
c.425T>G (p.Val142Gly)
c.905T>G (p.Val302Gly)
c.950T>G (p.Val317Gly)
c.782T>G (p.Val261Gly)
c.1073T>G (p.Val358Gly)
c.1080+2T>G (n.1080+2T>G)
4g.154569638A=CA1504935381FGBc.1083A= (p.Val361=)
n.939+331A=
c.426A= (p.Val142=)
c.906A= (p.Val302=)
c.951A= (p.Val317=)
c.783A= (p.Val261=)
c.1074A= (p.Val358=)
c.1080+3A= (n.1080+3A=)
4g.154569638A>CCA442013362FGBc.1083A>C (p.Val361=)
n.939+331A>C
c.426A>C (p.Val142=)
c.906A>C (p.Val302=)
c.951A>C (p.Val317=)
c.783A>C (p.Val261=)
c.1074A>C (p.Val358=)
c.1080+3A>C (n.1080+3A>C)
4g.154569638A>GCA442013360FGBc.1083A>G (p.Val361=)
n.939+331A>G
c.426A>G (p.Val142=)
c.906A>G (p.Val302=)
c.951A>G (p.Val317=)
c.783A>G (p.Val261=)
c.1074A>G (p.Val358=)
c.1080+3A>G (n.1080+3A>G)
dbSNP gnomAD v2 gnomAD v4
4g.154569638A>TCA442013361FGBc.1083A>T (p.Val361=)
n.939+331A>T
c.426A>T (p.Val142=)
c.906A>T (p.Val302=)
c.951A>T (p.Val317=)
c.783A>T (p.Val261=)
c.1074A>T (p.Val358=)
c.1080+3A>T (n.1080+3A>T)
4g.154569639C>ACA358515049FGBc.1084C>A (p.Gln362Lys)
n.939+332C>A
c.427C>A (p.Gln143Lys)
c.907C>A (p.Gln303Lys)
c.952C>A (p.Gln318Lys)
c.784C>A (p.Gln262Lys)
c.1075C>A (p.Gln359Lys)
c.1080+4C>A (n.1080+4C>A)
4g.154569639C=CA1504935386FGBc.1084C= (p.Gln362=)
n.939+332C=
c.427C= (p.Gln143=)
c.907C= (p.Gln303=)
c.952C= (p.Gln318=)
c.784C= (p.Gln262=)
c.1075C= (p.Gln359=)
c.1080+4C= (n.1080+4C=)
4g.154569639C>GCA358515048FGBc.1084C>G (p.Gln362Glu)
n.939+332C>G
c.427C>G (p.Gln143Glu)
c.907C>G (p.Gln303Glu)
c.952C>G (p.Gln318Glu)
c.784C>G (p.Gln262Glu)
c.1075C>G (p.Gln359Glu)
c.1080+4C>G (n.1080+4C>G)
4g.154569639C>TCA108751650FGBc.1084C>T (p.Gln362Ter)
n.939+332C>T
c.427C>T (p.Gln143Ter)
c.907C>T (p.Gln303Ter)
c.952C>T (p.Gln318Ter)
c.784C>T (p.Gln262Ter)
c.1075C>T (p.Gln359Ter)
c.1080+4C>T (n.1080+4C>T)
dbSNP
4g.154569640A=CA1504935389FGBc.1085A= (p.Gln362=)
n.939+333A=
c.428A= (p.Gln143=)
c.908A= (p.Gln303=)
c.953A= (p.Gln318=)
c.785A= (p.Gln262=)
c.1076A= (p.Gln359=)
c.1080+5A= (n.1080+5A=)
4g.154569640A>CCA358515051FGBc.1085A>C (p.Gln362Pro)
n.939+333A>C
c.428A>C (p.Gln143Pro)
c.908A>C (p.Gln303Pro)
c.953A>C (p.Gln318Pro)
c.785A>C (p.Gln262Pro)
c.1076A>C (p.Gln359Pro)
c.1080+5A>C (n.1080+5A>C)
4g.154569640A>GCA358515053FGBc.1085A>G (p.Gln362Arg)
n.939+333A>G
c.428A>G (p.Gln143Arg)
c.908A>G (p.Gln303Arg)
c.953A>G (p.Gln318Arg)
c.785A>G (p.Gln262Arg)
c.1076A>G (p.Gln359Arg)
c.1080+5A>G (n.1080+5A>G)
dbSNP gnomAD v2 gnomAD v4
4g.154569640A>TCA358515055FGBc.1085A>T (p.Gln362Leu)
n.939+333A>T
c.428A>T (p.Gln143Leu)
c.908A>T (p.Gln303Leu)
c.953A>T (p.Gln318Leu)
c.785A>T (p.Gln262Leu)
c.1076A>T (p.Gln359Leu)
c.1080+5A>T (n.1080+5A>T)
4g.154569641G>ACA442013366FGBc.1086G>A (p.Gln362=)
n.939+334G>A
c.429G>A (p.Gln143=)
c.909G>A (p.Gln303=)
c.954G>A (p.Gln318=)
c.786G>A (p.Gln262=)
c.1077G>A (p.Gln359=)
c.1080+6G>A (n.1080+6G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569641G>CCA358515056FGBc.1086G>C (p.Gln362His)
n.939+334G>C
c.429G>C (p.Gln143His)
c.909G>C (p.Gln303His)
c.954G>C (p.Gln318His)
c.786G>C (p.Gln262His)
c.1077G>C (p.Gln359His)
c.1080+6G>C (n.1080+6G>C)
4g.154569641G=CA1504935391FGBc.1086G= (p.Gln362=)
n.939+334G=
c.429G= (p.Gln143=)
c.909G= (p.Gln303=)
c.954G= (p.Gln318=)
c.786G= (p.Gln262=)
c.1077G= (p.Gln359=)
c.1080+6G= (n.1080+6G=)
4g.154569641G>TCA358515058FGBc.1086G>T (p.Gln362His)
n.939+334G>T
c.429G>T (p.Gln143His)
c.909G>T (p.Gln303His)
c.954G>T (p.Gln318His)
c.786G>T (p.Gln262His)
c.1077G>T (p.Gln359His)
c.1080+6G>T (n.1080+6G>T)
gnomAD v4 COSMIC
4g.154569642A>CCA358515059FGBc.1087A>C (p.Asn363His)
n.939+335A>C
c.430A>C (p.Asn144His)
c.910A>C (p.Asn304His)
c.955A>C (p.Asn319His)
c.787A>C (p.Asn263His)
c.1078A>C (p.Asn360His)
c.1080+7A>C (n.1080+7A>C)
4g.154569642A>GCA358515060FGBc.1087A>G (p.Asn363Asp)
n.939+335A>G
c.430A>G (p.Asn144Asp)
c.910A>G (p.Asn304Asp)
c.955A>G (p.Asn319Asp)
c.787A>G (p.Asn263Asp)
c.1078A>G (p.Asn360Asp)
c.1080+7A>G (n.1080+7A>G)
4g.154569642A>TCA358515061FGBc.1087A>T (p.Asn363Tyr)
n.939+335A>T
c.430A>T (p.Asn144Tyr)
c.910A>T (p.Asn304Tyr)
c.955A>T (p.Asn319Tyr)
c.787A>T (p.Asn263Tyr)
c.1078A>T (p.Asn360Tyr)
c.1080+7A>T (n.1080+7A>T)
4g.154569643A>CCA358515064FGBc.1088A>C (p.Asn363Thr)
n.939+336A>C
c.431A>C (p.Asn144Thr)
c.911A>C (p.Asn304Thr)
c.956A>C (p.Asn319Thr)
c.788A>C (p.Asn263Thr)
c.1079A>C (p.Asn360Thr)
c.1080+8A>C (n.1080+8A>C)
4g.154569643A>GCA358515065FGBc.1088A>G (p.Asn363Ser)
n.939+336A>G
c.431A>G (p.Asn144Ser)
c.911A>G (p.Asn304Ser)
c.956A>G (p.Asn319Ser)
c.788A>G (p.Asn263Ser)
c.1079A>G (p.Asn360Ser)
c.1080+8A>G (n.1080+8A>G)
4g.154569643A>TCA358515066FGBc.1088A>T (p.Asn363Ile)
n.939+336A>T
c.431A>T (p.Asn144Ile)
c.911A>T (p.Asn304Ile)
c.956A>T (p.Asn319Ile)
c.788A>T (p.Asn263Ile)
c.1079A>T (p.Asn360Ile)
c.1080+8A>T (n.1080+8A>T)
4g.154569644T>ACA358515067FGBc.1089T>A (p.Asn363Lys)
n.939+337T>A
c.432T>A (p.Asn144Lys)
c.912T>A (p.Asn304Lys)
c.957T>A (p.Asn319Lys)
c.789T>A (p.Asn263Lys)
c.1080T>A (p.Asn360Lys)
c.1080+9T>A (n.1080+9T>A)
4g.154569644T>CCA442013370FGBc.1089T>C (p.Asn363=)
n.939+337T>C
c.432T>C (p.Asn144=)
c.912T>C (p.Asn304=)
c.957T>C (p.Asn319=)
c.789T>C (p.Asn263=)
c.1080T>C (p.Asn360=)
c.1080+9T>C (n.1080+9T>C)
dbSNP gnomAD v3 gnomAD v4
4g.154569644T>GCA358515068FGBc.1089T>G (p.Asn363Lys)
n.939+337T>G
c.432T>G (p.Asn144Lys)
c.912T>G (p.Asn304Lys)
c.957T>G (p.Asn319Lys)
c.789T>G (p.Asn263Lys)
c.1080T>G (p.Asn360Lys)
c.1080+9T>G (n.1080+9T>G)
dbSNP
4g.154569644T=CA1504935394FGBc.1089T= (p.Asn363=)
n.939+337T=
c.432T= (p.Asn144=)
c.912T= (p.Asn304=)
c.957T= (p.Asn319=)
c.789T= (p.Asn263=)
c.1080T= (p.Asn360=)
c.1080+9T= (n.1080+9T=)
4g.154569645G>ACA358515071FGBc.1090G>A (p.Glu364Lys)
n.939+338G>A
c.433G>A (p.Glu145Lys)
c.913G>A (p.Glu305Lys)
c.958G>A (p.Glu320Lys)
c.790G>A (p.Glu264Lys)
c.1081G>A (p.Glu361Lys)
c.1080+10G>A (n.1080+10G>A)
COSMIC
4g.154569645G>CCA358515073FGBc.1090G>C (p.Glu364Gln)
n.939+338G>C
c.433G>C (p.Glu145Gln)
c.913G>C (p.Glu305Gln)
c.958G>C (p.Glu320Gln)
c.790G>C (p.Glu264Gln)
c.1081G>C (p.Glu361Gln)
c.1080+10G>C (n.1080+10G>C)
4g.154569645G>TCA358515070FGBc.1090G>T (p.Glu364Ter)
n.939+338G>T
c.433G>T (p.Glu145Ter)
c.913G>T (p.Glu305Ter)
c.958G>T (p.Glu320Ter)
c.790G>T (p.Glu264Ter)
c.1081G>T (p.Glu361Ter)
c.1080+10G>T (n.1080+10G>T)
4g.154569646A>CCA358515075FGBc.1091A>C (p.Glu364Ala)
n.939+339A>C
c.434A>C (p.Glu145Ala)
c.914A>C (p.Glu305Ala)
c.959A>C (p.Glu320Ala)
c.791A>C (p.Glu264Ala)
c.1082A>C (p.Glu361Ala)
c.1080+11A>C (n.1080+11A>C)
4g.154569646A>GCA358515078FGBc.1091A>G (p.Glu364Gly)
n.939+339A>G
c.434A>G (p.Glu145Gly)
c.914A>G (p.Glu305Gly)
c.959A>G (p.Glu320Gly)
c.791A>G (p.Glu264Gly)
c.1082A>G (p.Glu361Gly)
c.1080+11A>G (n.1080+11A>G)
4g.154569646A>TCA358515076FGBc.1091A>T (p.Glu364Val)
n.939+339A>T
c.434A>T (p.Glu145Val)
c.914A>T (p.Glu305Val)
c.959A>T (p.Glu320Val)
c.791A>T (p.Glu264Val)
c.1082A>T (p.Glu361Val)
c.1080+11A>T (n.1080+11A>T)
4g.154569647A=CA1504935397FGBc.1092A= (p.Glu364=)
n.939+340A=
c.435A= (p.Glu145=)
c.915A= (p.Glu305=)
c.960A= (p.Glu320=)
c.792A= (p.Glu264=)
c.1083A= (p.Glu361=)
c.1080+12A= (n.1080+12A=)
4g.154569647A>CCA358515080FGBc.1092A>C (p.Glu364Asp)
n.939+340A>C
c.435A>C (p.Glu145Asp)
c.915A>C (p.Glu305Asp)
c.960A>C (p.Glu320Asp)
c.792A>C (p.Glu264Asp)
c.1083A>C (p.Glu361Asp)
c.1080+12A>C (n.1080+12A>C)
4g.154569647A>GCA108751653FGBc.1092A>G (p.Glu364=)
n.939+340A>G
c.435A>G (p.Glu145=)
c.915A>G (p.Glu305=)
c.960A>G (p.Glu320=)
c.792A>G (p.Glu264=)
c.1083A>G (p.Glu361=)
c.1080+12A>G (n.1080+12A>G)
dbSNP
4g.154569647A>TCA358515081FGBc.1092A>T (p.Glu364Asp)
n.939+340A>T
c.435A>T (p.Glu145Asp)
c.915A>T (p.Glu305Asp)
c.960A>T (p.Glu320Asp)
c.792A>T (p.Glu264Asp)
c.1083A>T (p.Glu361Asp)
c.1080+12A>T (n.1080+12A>T)
4g.154569648G>ACA126431FGBc.1093G>A (p.Ala365Thr)
n.939+341G>A
c.436G>A (p.Ala146Thr)
c.916G>A (p.Ala306Thr)
c.961G>A (p.Ala321Thr)
c.793G>A (p.Ala265Thr)
c.1084G>A (p.Ala362Thr)
c.1080+13G>A (n.1080+13G>A)
ClinVar dbSNP
4g.154569648G>CCA358515084FGBc.1093G>C (p.Ala365Pro)
n.939+341G>C
c.436G>C (p.Ala146Pro)
c.916G>C (p.Ala306Pro)
c.961G>C (p.Ala321Pro)
c.793G>C (p.Ala265Pro)
c.1084G>C (p.Ala362Pro)
c.1080+13G>C (n.1080+13G>C)
4g.154569648G=CA1504935402FGBc.1093G= (p.Ala365=)
n.939+341G=
c.436G= (p.Ala146=)
c.916G= (p.Ala306=)
c.961G= (p.Ala321=)
c.793G= (p.Ala265=)
c.1084G= (p.Ala362=)
c.1080+13G= (n.1080+13G=)
4g.154569648G>TCA358515085FGBc.1093G>T (p.Ala365Ser)
n.939+341G>T
c.436G>T (p.Ala146Ser)
c.916G>T (p.Ala306Ser)
c.961G>T (p.Ala321Ser)
c.793G>T (p.Ala265Ser)
c.1084G>T (p.Ala362Ser)
c.1080+13G>T (n.1080+13G>T)
4g.154569649C>ACA358515087FGBc.1094C>A (p.Ala365Asp)
n.939+342C>A
c.437C>A (p.Ala146Asp)
c.917C>A (p.Ala306Asp)
c.962C>A (p.Ala321Asp)
c.794C>A (p.Ala265Asp)
c.1085C>A (p.Ala362Asp)
c.1080+14C>A (n.1080+14C>A)
4g.154569649C>GCA358515088FGBc.1094C>G (p.Ala365Gly)
n.939+342C>G
c.437C>G (p.Ala146Gly)
c.917C>G (p.Ala306Gly)
c.962C>G (p.Ala321Gly)
c.794C>G (p.Ala265Gly)
c.1085C>G (p.Ala362Gly)
c.1080+14C>G (n.1080+14C>G)
4g.154569649C>TCA358515090FGBc.1094C>T (p.Ala365Val)
n.939+342C>T
c.437C>T (p.Ala146Val)
c.917C>T (p.Ala306Val)
c.962C>T (p.Ala321Val)
c.794C>T (p.Ala265Val)
c.1085C>T (p.Ala362Val)
c.1080+14C>T (n.1080+14C>T)
4g.154569650C>ACA442013385FGBc.1095C>A (p.Ala365=)
n.939+343C>A
c.438C>A (p.Ala146=)
c.918C>A (p.Ala306=)
c.963C>A (p.Ala321=)
c.795C>A (p.Ala265=)
c.1086C>A (p.Ala362=)
c.1080+15C>A (n.1080+15C>A)
4g.154569650C>GCA442013386FGBc.1095C>G (p.Ala365=)
n.939+343C>G
c.438C>G (p.Ala146=)
c.918C>G (p.Ala306=)
c.963C>G (p.Ala321=)
c.795C>G (p.Ala265=)
c.1086C>G (p.Ala362=)
c.1080+15C>G (n.1080+15C>G)
4g.154569650C>TCA442013387FGBc.1095C>T (p.Ala365=)
n.939+343C>T
c.438C>T (p.Ala146=)
c.918C>T (p.Ala306=)
c.963C>T (p.Ala321=)
c.795C>T (p.Ala265=)
c.1086C>T (p.Ala362=)
c.1080+15C>T (n.1080+15C>T)
gnomAD v4
4g.154569651A>CCA358515092FGBc.1096A>C (p.Asn366His)
n.939+344A>C
c.439A>C (p.Asn147His)
c.919A>C (p.Asn307His)
c.964A>C (p.Asn322His)
c.796A>C (p.Asn266His)
c.1087A>C (p.Asn363His)
c.1080+16A>C (n.1080+16A>C)
4g.154569651A>GCA358515094FGBc.1096A>G (p.Asn366Asp)
n.939+344A>G
c.439A>G (p.Asn147Asp)
c.919A>G (p.Asn307Asp)
c.964A>G (p.Asn322Asp)
c.796A>G (p.Asn266Asp)
c.1087A>G (p.Asn363Asp)
c.1080+16A>G (n.1080+16A>G)
4g.154569651A>TCA358515095FGBc.1096A>T (p.Asn366Tyr)
n.939+344A>T
c.439A>T (p.Asn147Tyr)
c.919A>T (p.Asn307Tyr)
c.964A>T (p.Asn322Tyr)
c.796A>T (p.Asn266Tyr)
c.1087A>T (p.Asn363Tyr)
c.1080+16A>T (n.1080+16A>T)
4g.154569652A=CA1504935408FGBc.1097A= (p.Asn366=)
n.939+345A=
c.440A= (p.Asn147=)
c.920A= (p.Asn307=)
c.965A= (p.Asn322=)
c.797A= (p.Asn266=)
c.1088A= (p.Asn363=)
c.1080+17A= (n.1080+17A=)
4g.154569652A>CCA358515100FGBc.1097A>C (p.Asn366Thr)
n.939+345A>C
c.440A>C (p.Asn147Thr)
c.920A>C (p.Asn307Thr)
c.965A>C (p.Asn322Thr)
c.797A>C (p.Asn266Thr)
c.1088A>C (p.Asn363Thr)
c.1080+17A>C (n.1080+17A>C)
4g.154569652A>GCA358515098FGBc.1097A>G (p.Asn366Ser)
n.939+345A>G
c.440A>G (p.Asn147Ser)
c.920A>G (p.Asn307Ser)
c.965A>G (p.Asn322Ser)
c.797A>G (p.Asn266Ser)
c.1088A>G (p.Asn363Ser)
c.1080+17A>G (n.1080+17A>G)
dbSNP gnomAD v4 COSMIC
4g.154569652A>TCA358515097FGBc.1097A>T (p.Asn366Ile)
n.939+345A>T
c.440A>T (p.Asn147Ile)
c.920A>T (p.Asn307Ile)
c.965A>T (p.Asn322Ile)
c.797A>T (p.Asn266Ile)
c.1088A>T (p.Asn363Ile)
c.1080+17A>T (n.1080+17A>T)
4g.154569653C>ACA358515101FGBc.1098C>A (p.Asn366Lys)
n.939+346C>A
c.441C>A (p.Asn147Lys)
c.921C>A (p.Asn307Lys)
c.966C>A (p.Asn322Lys)
c.798C>A (p.Asn266Lys)
c.1089C>A (p.Asn363Lys)
c.1080+18C>A (n.1080+18C>A)
dbSNP
4g.154569653C=CA1504935412FGBc.1098C= (p.Asn366=)
n.939+346C=
c.441C= (p.Asn147=)
c.921C= (p.Asn307=)
c.966C= (p.Asn322=)
c.798C= (p.Asn266=)
c.1089C= (p.Asn363=)
c.1080+18C= (n.1080+18C=)
4g.154569653C>GCA358515103FGBc.1098C>G (p.Asn366Lys)
n.939+346C>G
c.441C>G (p.Asn147Lys)
c.921C>G (p.Asn307Lys)
c.966C>G (p.Asn322Lys)
c.798C>G (p.Asn266Lys)
c.1089C>G (p.Asn363Lys)
c.1080+18C>G (n.1080+18C>G)
4g.154569653C>TCA442013390FGBc.1098C>T (p.Asn366=)
n.939+346C>T
c.441C>T (p.Asn147=)
c.921C>T (p.Asn307=)
c.966C>T (p.Asn322=)
c.798C>T (p.Asn266=)
c.1089C>T (p.Asn363=)
c.1080+18C>T (n.1080+18C>T)
dbSNP
4g.154569654A>CCA358515105FGBc.1099A>C (p.Lys367Gln)
n.939+347A>C
c.442A>C (p.Lys148Gln)
c.922A>C (p.Lys308Gln)
c.967A>C (p.Lys323Gln)
c.799A>C (p.Lys267Gln)
c.1090A>C (p.Lys364Gln)
c.1080+19A>C (n.1080+19A>C)
4g.154569654A>GCA358515107FGBc.1099A>G (p.Lys367Glu)
n.939+347A>G
c.442A>G (p.Lys148Glu)
c.922A>G (p.Lys308Glu)
c.967A>G (p.Lys323Glu)
c.799A>G (p.Lys267Glu)
c.1090A>G (p.Lys364Glu)
c.1080+19A>G (n.1080+19A>G)
4g.154569654A>TCA358515108FGBc.1099A>T (p.Lys367Ter)
n.939+347A>T
c.442A>T (p.Lys148Ter)
c.922A>T (p.Lys308Ter)
c.967A>T (p.Lys323Ter)
c.799A>T (p.Lys267Ter)
c.1090A>T (p.Lys364Ter)
c.1080+19A>T (n.1080+19A>T)
4g.154569655A=CA1504935416FGBc.1100A= (p.Lys367=)
n.939+348A=
c.443A= (p.Lys148=)
c.923A= (p.Lys308=)
c.968A= (p.Lys323=)
c.800A= (p.Lys267=)
c.1091A= (p.Lys364=)
c.1080+20A= (n.1080+20A=)
4g.154569655A>CCA358515110FGBc.1100A>C (p.Lys367Thr)
n.939+348A>C
c.443A>C (p.Lys148Thr)
c.923A>C (p.Lys308Thr)
c.968A>C (p.Lys323Thr)
c.800A>C (p.Lys267Thr)
c.1091A>C (p.Lys364Thr)
c.1080+20A>C (n.1080+20A>C)
4g.154569655A>GCA358515111FGBc.1100A>G (p.Lys367Arg)
n.939+348A>G
c.443A>G (p.Lys148Arg)
c.923A>G (p.Lys308Arg)
c.968A>G (p.Lys323Arg)
c.800A>G (p.Lys267Arg)
c.1091A>G (p.Lys364Arg)
c.1080+20A>G (n.1080+20A>G)
dbSNP gnomAD v3 gnomAD v4
4g.154569655A>TCA358515112FGBc.1100A>T (p.Lys367Ile)
n.939+348A>T
c.443A>T (p.Lys148Ile)
c.923A>T (p.Lys308Ile)
c.968A>T (p.Lys323Ile)
c.800A>T (p.Lys267Ile)
c.1091A>T (p.Lys364Ile)
c.1080+20A>T (n.1080+20A>T)
4g.154569656A=CA1504935419FGBc.1101A= (p.Lys367=)
n.939+349A=
c.444A= (p.Lys148=)
c.924A= (p.Lys308=)
c.969A= (p.Lys323=)
c.801A= (p.Lys267=)
c.1092A= (p.Lys364=)
c.1080+21A= (n.1080+21A=)
4g.154569656A>CCA358515114FGBc.1101A>C (p.Lys367Asn)
n.939+349A>C
c.444A>C (p.Lys148Asn)
c.924A>C (p.Lys308Asn)
c.969A>C (p.Lys323Asn)
c.801A>C (p.Lys267Asn)
c.1092A>C (p.Lys364Asn)
c.1080+21A>C (n.1080+21A>C)
4g.154569656A>GCA442013396FGBc.1101A>G (p.Lys367=)
n.939+349A>G
c.444A>G (p.Lys148=)
c.924A>G (p.Lys308=)
c.969A>G (p.Lys323=)
c.801A>G (p.Lys267=)
c.1092A>G (p.Lys364=)
c.1080+21A>G (n.1080+21A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569656A>TCA358515115FGBc.1101A>T (p.Lys367Asn)
n.939+349A>T
c.444A>T (p.Lys148Asn)
c.924A>T (p.Lys308Asn)
c.969A>T (p.Lys323Asn)
c.801A>T (p.Lys267Asn)
c.1092A>T (p.Lys364Asn)
c.1080+21A>T (n.1080+21A>T)
4g.154569657T>ACA358515117FGBc.1102T>A (p.Tyr368Asn)
n.939+350T>A
c.445T>A (p.Tyr149Asn)
c.925T>A (p.Tyr309Asn)
c.970T>A (p.Tyr324Asn)
c.802T>A (p.Tyr268Asn)
c.1093T>A (p.Tyr365Asn)
c.1080+22T>A (n.1080+22T>A)
4g.154569657T>CCA358515119FGBc.1102T>C (p.Tyr368His)
n.939+350T>C
c.445T>C (p.Tyr149His)
c.925T>C (p.Tyr309His)
c.970T>C (p.Tyr324His)
c.802T>C (p.Tyr268His)
c.1093T>C (p.Tyr365His)
c.1080+22T>C (n.1080+22T>C)
gnomAD v4
4g.154569657T>GCA358515120FGBc.1102T>G (p.Tyr368Asp)
n.939+350T>G
c.445T>G (p.Tyr149Asp)
c.925T>G (p.Tyr309Asp)
c.970T>G (p.Tyr324Asp)
c.802T>G (p.Tyr268Asp)
c.1093T>G (p.Tyr365Asp)
c.1080+22T>G (n.1080+22T>G)
4g.154569658A>CCA358515123FGBc.1103A>C (p.Tyr368Ser)
n.939+351A>C
c.446A>C (p.Tyr149Ser)
c.926A>C (p.Tyr309Ser)
c.971A>C (p.Tyr324Ser)
c.803A>C (p.Tyr268Ser)
c.1094A>C (p.Tyr365Ser)
c.1080+23A>C (n.1080+23A>C)
4g.154569658A>GCA358515125FGBc.1103A>G (p.Tyr368Cys)
n.939+351A>G
c.446A>G (p.Tyr149Cys)
c.926A>G (p.Tyr309Cys)
c.971A>G (p.Tyr324Cys)
c.803A>G (p.Tyr268Cys)
c.1094A>G (p.Tyr365Cys)
c.1080+23A>G (n.1080+23A>G)
COSMIC
4g.154569658A>TCA358515121FGBc.1103A>T (p.Tyr368Phe)
n.939+351A>T
c.446A>T (p.Tyr149Phe)
c.926A>T (p.Tyr309Phe)
c.971A>T (p.Tyr324Phe)
c.803A>T (p.Tyr268Phe)
c.1094A>T (p.Tyr365Phe)
c.1080+23A>T (n.1080+23A>T)
4g.154569659C>ACA358515126FGBc.1104C>A (p.Tyr368Ter)
n.939+352C>A
c.447C>A (p.Tyr149Ter)
c.927C>A (p.Tyr309Ter)
c.972C>A (p.Tyr324Ter)
c.804C>A (p.Tyr268Ter)
c.1095C>A (p.Tyr365Ter)
c.1080+24C>A (n.1080+24C>A)
4g.154569659C>GCA358515127FGBc.1104C>G (p.Tyr368Ter)
n.939+352C>G
c.447C>G (p.Tyr149Ter)
c.927C>G (p.Tyr309Ter)
c.972C>G (p.Tyr324Ter)
c.804C>G (p.Tyr268Ter)
c.1095C>G (p.Tyr365Ter)
c.1080+24C>G (n.1080+24C>G)
dbSNP
4g.154569659C>TCA442013400FGBc.1104C>T (p.Tyr368=)
n.939+352C>T
c.447C>T (p.Tyr149=)
c.927C>T (p.Tyr309=)
c.972C>T (p.Tyr324=)
c.804C>T (p.Tyr268=)
c.1095C>T (p.Tyr365=)
c.1080+24C>T (n.1080+24C>T)
4g.154569660C>ACA358515129FGBc.1105C>A (p.Gln369Lys)
n.939+353C>A
c.448C>A (p.Gln150Lys)
c.928C>A (p.Gln310Lys)
c.973C>A (p.Gln325Lys)
c.805C>A (p.Gln269Lys)
c.1096C>A (p.Gln366Lys)
c.1080+25C>A (n.1080+25C>A)
4g.154569660C=CA1504935421FGBc.1105C= (p.Gln369=)
n.939+353C=
c.448C= (p.Gln150=)
c.928C= (p.Gln310=)
c.973C= (p.Gln325=)
c.805C= (p.Gln269=)
c.1096C= (p.Gln366=)
c.1080+25C= (n.1080+25C=)
4g.154569660C>GCA358515131FGBc.1105C>G (p.Gln369Glu)
n.939+353C>G
c.448C>G (p.Gln150Glu)
c.928C>G (p.Gln310Glu)
c.973C>G (p.Gln325Glu)
c.805C>G (p.Gln269Glu)
c.1096C>G (p.Gln366Glu)
c.1080+25C>G (n.1080+25C>G)
4g.154569660C>TCA108751657FGBc.1105C>T (p.Gln369Ter)
n.939+353C>T
c.448C>T (p.Gln150Ter)
c.928C>T (p.Gln310Ter)
c.973C>T (p.Gln325Ter)
c.805C>T (p.Gln269Ter)
c.1096C>T (p.Gln366Ter)
c.1080+25C>T (n.1080+25C>T)
dbSNP
4g.154569661A>CCA358515135FGBc.1106A>C (p.Gln369Pro)
n.939+354A>C
c.449A>C (p.Gln150Pro)
c.929A>C (p.Gln310Pro)
c.974A>C (p.Gln325Pro)
c.806A>C (p.Gln269Pro)
c.1097A>C (p.Gln366Pro)
c.1080+26A>C (n.1080+26A>C)
4g.154569661A>GCA358515136FGBc.1106A>G (p.Gln369Arg)
n.939+354A>G
c.449A>G (p.Gln150Arg)
c.929A>G (p.Gln310Arg)
c.974A>G (p.Gln325Arg)
c.806A>G (p.Gln269Arg)
c.1097A>G (p.Gln366Arg)
c.1080+26A>G (n.1080+26A>G)
4g.154569661A>TCA358515137FGBc.1106A>T (p.Gln369Leu)
n.939+354A>T
c.449A>T (p.Gln150Leu)
c.929A>T (p.Gln310Leu)
c.974A>T (p.Gln325Leu)
c.806A>T (p.Gln269Leu)
c.1097A>T (p.Gln366Leu)
c.1080+26A>T (n.1080+26A>T)
4g.154569662G>ACA442013403FGBc.1107G>A (p.Gln369=)
n.939+355G>A
c.450G>A (p.Gln150=)
c.930G>A (p.Gln310=)
c.975G>A (p.Gln325=)
c.807G>A (p.Gln269=)
c.1098G>A (p.Gln366=)
c.1080+27G>A (n.1080+27G>A)
dbSNP
4g.154569662G>CCA358515139FGBc.1107G>C (p.Gln369His)
n.939+355G>C
c.450G>C (p.Gln150His)
c.930G>C (p.Gln310His)
c.975G>C (p.Gln325His)
c.807G>C (p.Gln269His)
c.1098G>C (p.Gln366His)
c.1080+27G>C (n.1080+27G>C)
4g.154569662G=CA1504935425FGBc.1107G= (p.Gln369=)
n.939+355G=
c.450G= (p.Gln150=)
c.930G= (p.Gln310=)
c.975G= (p.Gln325=)
c.807G= (p.Gln269=)
c.1098G= (p.Gln366=)
c.1080+27G= (n.1080+27G=)
4g.154569662G>TCA358515141FGBc.1107G>T (p.Gln369His)
n.939+355G>T
c.450G>T (p.Gln150His)
c.930G>T (p.Gln310His)
c.975G>T (p.Gln325His)
c.807G>T (p.Gln269His)
c.1098G>T (p.Gln366His)
c.1080+27G>T (n.1080+27G>T)
4g.154569663A=CA1504935429FGBc.1108A= (p.Ile370=)
n.939+356A=
c.451A= (p.Ile151=)
c.931A= (p.Ile311=)
c.976A= (p.Ile326=)
c.808A= (p.Ile270=)
c.1099A= (p.Ile367=)
c.1080+28A= (n.1080+28A=)
4g.154569663A>CCA358515146FGBc.1108A>C (p.Ile370Leu)
n.939+356A>C
c.451A>C (p.Ile151Leu)
c.931A>C (p.Ile311Leu)
c.976A>C (p.Ile326Leu)
c.808A>C (p.Ile270Leu)
c.1099A>C (p.Ile367Leu)
c.1080+28A>C (n.1080+28A>C)
4g.154569663A>GCA358515144FGBc.1108A>G (p.Ile370Val)
n.939+356A>G
c.451A>G (p.Ile151Val)
c.931A>G (p.Ile311Val)
c.976A>G (p.Ile326Val)
c.808A>G (p.Ile270Val)
c.1099A>G (p.Ile367Val)
c.1080+28A>G (n.1080+28A>G)
dbSNP
4g.154569663A>TCA358515143FGBc.1108A>T (p.Ile370Phe)
n.939+356A>T
c.451A>T (p.Ile151Phe)
c.931A>T (p.Ile311Phe)
c.976A>T (p.Ile326Phe)
c.808A>T (p.Ile270Phe)
c.1099A>T (p.Ile367Phe)
c.1080+28A>T (n.1080+28A>T)
4g.154569664T>ACA358515147FGBc.1109T>A (p.Ile370Asn)
n.939+357T>A
c.452T>A (p.Ile151Asn)
c.932T>A (p.Ile311Asn)
c.977T>A (p.Ile326Asn)
c.809T>A (p.Ile270Asn)
c.1100T>A (p.Ile367Asn)
c.1080+29T>A (n.1080+29T>A)
4g.154569664T>CCA358515148FGBc.1109T>C (p.Ile370Thr)
n.939+357T>C
c.452T>C (p.Ile151Thr)
c.932T>C (p.Ile311Thr)
c.977T>C (p.Ile326Thr)
c.809T>C (p.Ile270Thr)
c.1100T>C (p.Ile367Thr)
c.1080+29T>C (n.1080+29T>C)
COSMIC
4g.154569664T>GCA358515149FGBc.1109T>G (p.Ile370Ser)
n.939+357T>G
c.452T>G (p.Ile151Ser)
c.932T>G (p.Ile311Ser)
c.977T>G (p.Ile326Ser)
c.809T>G (p.Ile270Ser)
c.1100T>G (p.Ile367Ser)
c.1080+29T>G (n.1080+29T>G)
4g.154569665C>ACA442013408FGBc.1110C>A (p.Ile370=)
n.939+358C>A
c.453C>A (p.Ile151=)
c.933C>A (p.Ile311=)
c.978C>A (p.Ile326=)
c.810C>A (p.Ile270=)
c.1101C>A (p.Ile367=)
c.1080+30C>A (n.1080+30C>A)
4g.154569665C=CA1504935432FGBc.1110C= (p.Ile370=)
n.939+358C=
c.453C= (p.Ile151=)
c.933C= (p.Ile311=)
c.978C= (p.Ile326=)
c.810C= (p.Ile270=)
c.1101C= (p.Ile367=)
c.1080+30C= (n.1080+30C=)
4g.154569665C>GCA3114719FGBc.1110C>G (p.Ile370Met)
n.939+358C>G
c.453C>G (p.Ile151Met)
c.933C>G (p.Ile311Met)
c.978C>G (p.Ile326Met)
c.810C>G (p.Ile270Met)
c.1101C>G (p.Ile367Met)
c.1080+30C>G (n.1080+30C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569665C>TCA3114720FGBc.1110C>T (p.Ile370=)
n.939+358C>T
c.453C>T (p.Ile151=)
c.933C>T (p.Ile311=)
c.978C>T (p.Ile326=)
c.810C>T (p.Ile270=)
c.1101C>T (p.Ile367=)
c.1080+30C>T (n.1080+30C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569666T>ACA358515151FGBc.1111T>A (p.Ser371Thr)
n.939+359T>A
c.454T>A (p.Ser152Thr)
c.934T>A (p.Ser312Thr)
c.979T>A (p.Ser327Thr)
c.811T>A (p.Ser271Thr)
c.1102T>A (p.Ser368Thr)
c.1080+31T>A (n.1080+31T>A)
gnomAD v4
4g.154569666T>CCA358515152FGBc.1111T>C (p.Ser371Pro)
n.939+359T>C
c.454T>C (p.Ser152Pro)
c.934T>C (p.Ser312Pro)
c.979T>C (p.Ser327Pro)
c.811T>C (p.Ser271Pro)
c.1102T>C (p.Ser368Pro)
c.1080+31T>C (n.1080+31T>C)
4g.154569666T>GCA358515154FGBc.1111T>G (p.Ser371Ala)
n.939+359T>G
c.454T>G (p.Ser152Ala)
c.934T>G (p.Ser312Ala)
c.979T>G (p.Ser327Ala)
c.811T>G (p.Ser271Ala)
c.1102T>G (p.Ser368Ala)
c.1080+31T>G (n.1080+31T>G)
4g.154569667C>ACA358515156FGBc.1112C>A (p.Ser371Ter)
n.939+360C>A
c.455C>A (p.Ser152Ter)
c.935C>A (p.Ser312Ter)
c.980C>A (p.Ser327Ter)
c.812C>A (p.Ser271Ter)
c.1103C>A (p.Ser368Ter)
c.1080+32C>A (n.1080+32C>A)
4g.154569667C>GCA358515157FGBc.1112C>G (p.Ser371Ter)
n.939+360C>G
c.455C>G (p.Ser152Ter)
c.935C>G (p.Ser312Ter)
c.980C>G (p.Ser327Ter)
c.812C>G (p.Ser271Ter)
c.1103C>G (p.Ser368Ter)
c.1080+32C>G (n.1080+32C>G)
4g.154569667C>TCA358515158FGBc.1112C>T (p.Ser371Leu)
n.939+360C>T
c.455C>T (p.Ser152Leu)
c.935C>T (p.Ser312Leu)
c.980C>T (p.Ser327Leu)
c.812C>T (p.Ser271Leu)
c.1103C>T (p.Ser368Leu)
c.1080+32C>T (n.1080+32C>T)
COSMIC
4g.154569668A=CA1504935436FGBc.1113A= (p.Ser371=)
n.939+361A=
c.456A= (p.Ser152=)
c.936A= (p.Ser312=)
c.981A= (p.Ser327=)
c.813A= (p.Ser271=)
c.1104A= (p.Ser368=)
c.1080+33A= (n.1080+33A=)
4g.154569668A>CCA442013413FGBc.1113A>C (p.Ser371=)
n.939+361A>C
c.456A>C (p.Ser152=)
c.936A>C (p.Ser312=)
c.981A>C (p.Ser327=)
c.813A>C (p.Ser271=)
c.1104A>C (p.Ser368=)
c.1080+33A>C (n.1080+33A>C)
4g.154569668A>GCA3114721FGBc.1113A>G (p.Ser371=)
n.939+361A>G
c.456A>G (p.Ser152=)
c.936A>G (p.Ser312=)
c.981A>G (p.Ser327=)
c.813A>G (p.Ser271=)
c.1104A>G (p.Ser368=)
c.1080+33A>G (n.1080+33A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569668A>TCA442013414FGBc.1113A>T (p.Ser371=)
n.939+361A>T
c.456A>T (p.Ser152=)
c.936A>T (p.Ser312=)
c.981A>T (p.Ser327=)
c.813A>T (p.Ser271=)
c.1104A>T (p.Ser368=)
c.1080+33A>T (n.1080+33A>T)
gnomAD v4
4g.154569668_154569669delCA2672441406FGBc.1113_1114del (p.Val372GlufsTer9)
n.939+361_939+362del
c.456_457del (p.Val153GlufsTer9)
c.936_937del (p.Val313GlufsTer9)
c.981_982del (p.Val328GlufsTer9)
c.813_814del (p.Val272GlufsTer9)
c.1104_1105del (p.Val369GlufsTer9)
c.1080+33_1080+34del (n.1080+33_1080+34del)
gnomAD v4
4g.154569669G>ACA108751677FGBc.1114G>A (p.Val372Met)
n.939+362G>A
c.457G>A (p.Val153Met)
c.937G>A (p.Val313Met)
c.982G>A (p.Val328Met)
c.814G>A (p.Val272Met)
c.1105G>A (p.Val369Met)
c.1080+34G>A (n.1080+34G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569669G>CCA358515163FGBc.1114G>C (p.Val372Leu)
n.939+362G>C
c.457G>C (p.Val153Leu)
c.937G>C (p.Val313Leu)
c.982G>C (p.Val328Leu)
c.814G>C (p.Val272Leu)
c.1105G>C (p.Val369Leu)
c.1080+34G>C (n.1080+34G>C)
4g.154569669G=CA1504935441FGBc.1114G= (p.Val372=)
n.939+362G=
c.457G= (p.Val153=)
c.937G= (p.Val313=)
c.982G= (p.Val328=)
c.814G= (p.Val272=)
c.1105G= (p.Val369=)
c.1080+34G= (n.1080+34G=)
4g.154569669G>TCA358515161FGBc.1114G>T (p.Val372Leu)
n.939+362G>T
c.457G>T (p.Val153Leu)
c.937G>T (p.Val313Leu)
c.982G>T (p.Val328Leu)
c.814G>T (p.Val272Leu)
c.1105G>T (p.Val369Leu)
c.1080+34G>T (n.1080+34G>T)
4g.154569670T>ACA358515164FGBc.1115T>A (p.Val372Glu)
n.939+363T>A
c.458T>A (p.Val153Glu)
c.938T>A (p.Val313Glu)
c.983T>A (p.Val328Glu)
c.815T>A (p.Val272Glu)
c.1106T>A (p.Val369Glu)
c.1080+35T>A (n.1080+35T>A)
4g.154569670T>CCA358515166FGBc.1115T>C (p.Val372Ala)
n.939+363T>C
c.458T>C (p.Val153Ala)
c.938T>C (p.Val313Ala)
c.983T>C (p.Val328Ala)
c.815T>C (p.Val272Ala)
c.1106T>C (p.Val369Ala)
c.1080+35T>C (n.1080+35T>C)
4g.154569670T>GCA358515167FGBc.1115T>G (p.Val372Gly)
n.939+363T>G
c.458T>G (p.Val153Gly)
c.938T>G (p.Val313Gly)
c.983T>G (p.Val328Gly)
c.815T>G (p.Val272Gly)
c.1106T>G (p.Val369Gly)
c.1080+35T>G (n.1080+35T>G)
4g.154569671G>ACA442013416FGBc.1116G>A (p.Val372=)
n.939+364G>A
c.459G>A (p.Val153=)
c.939G>A (p.Val313=)
c.984G>A (p.Val328=)
c.816G>A (p.Val272=)
c.1107G>A (p.Val369=)
c.1080+36G>A (n.1080+36G>A)
4g.154569671G>CCA442013417FGBc.1116G>C (p.Val372=)
n.939+364G>C
c.459G>C (p.Val153=)
c.939G>C (p.Val313=)
c.984G>C (p.Val328=)
c.816G>C (p.Val272=)
c.1107G>C (p.Val369=)
c.1080+36G>C (n.1080+36G>C)
4g.154569671G>TCA442013418FGBc.1116G>T (p.Val372=)
n.939+364G>T
c.459G>T (p.Val153=)
c.939G>T (p.Val313=)
c.984G>T (p.Val328=)
c.816G>T (p.Val272=)
c.1107G>T (p.Val369=)
c.1080+36G>T (n.1080+36G>T)
4g.154569672A=CA1504935449FGBc.1117A= (p.Asn373=)
n.939+365A=
c.460A= (p.Asn154=)
c.940A= (p.Asn314=)
c.985A= (p.Asn329=)
c.817A= (p.Asn273=)
c.1108A= (p.Asn370=)
c.1080+37A= (n.1080+37A=)
4g.154569672A>CCA358515169FGBc.1117A>C (p.Asn373His)
n.939+365A>C
c.460A>C (p.Asn154His)
c.940A>C (p.Asn314His)
c.985A>C (p.Asn329His)
c.817A>C (p.Asn273His)
c.1108A>C (p.Asn370His)
c.1080+37A>C (n.1080+37A>C)
4g.154569672A>GCA358515170FGBc.1117A>G (p.Asn373Asp)
n.939+365A>G
c.460A>G (p.Asn154Asp)
c.940A>G (p.Asn314Asp)
c.985A>G (p.Asn329Asp)
c.817A>G (p.Asn273Asp)
c.1108A>G (p.Asn370Asp)
c.1080+37A>G (n.1080+37A>G)
4g.154569672A>TCA3114722FGBc.1117A>T (p.Asn373Tyr)
n.939+365A>T
c.460A>T (p.Asn154Tyr)
c.940A>T (p.Asn314Tyr)
c.985A>T (p.Asn329Tyr)
c.817A>T (p.Asn273Tyr)
c.1108A>T (p.Asn370Tyr)
c.1080+37A>T (n.1080+37A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569673A=CA1504935453FGBc.1118A= (p.Asn373=)
n.939+366A=
c.461A= (p.Asn154=)
c.941A= (p.Asn314=)
c.986A= (p.Asn329=)
c.818A= (p.Asn273=)
c.1109A= (p.Asn370=)
c.1080+38A= (n.1080+38A=)
4g.154569673A>CCA358515176FGBc.1118A>C (p.Asn373Thr)
n.939+366A>C
c.461A>C (p.Asn154Thr)
c.941A>C (p.Asn314Thr)
c.986A>C (p.Asn329Thr)
c.818A>C (p.Asn273Thr)
c.1109A>C (p.Asn370Thr)
c.1080+38A>C (n.1080+38A>C)
4g.154569673A>GCA358515173FGBc.1118A>G (p.Asn373Ser)
n.939+366A>G
c.461A>G (p.Asn154Ser)
c.941A>G (p.Asn314Ser)
c.986A>G (p.Asn329Ser)
c.818A>G (p.Asn273Ser)
c.1109A>G (p.Asn370Ser)
c.1080+38A>G (n.1080+38A>G)
dbSNP gnomAD v3 gnomAD v4
4g.154569673A>TCA358515174FGBc.1118A>T (p.Asn373Ile)
n.939+366A>T
c.461A>T (p.Asn154Ile)
c.941A>T (p.Asn314Ile)
c.986A>T (p.Asn329Ile)
c.818A>T (p.Asn273Ile)
c.1109A>T (p.Asn370Ile)
c.1080+38A>T (n.1080+38A>T)
4g.154569674C>ACA358515178FGBc.1119C>A (p.Asn373Lys)
n.939+367C>A
c.462C>A (p.Asn154Lys)
c.942C>A (p.Asn314Lys)
c.987C>A (p.Asn329Lys)
c.819C>A (p.Asn273Lys)
c.1110C>A (p.Asn370Lys)
c.1080+39C>A (n.1080+39C>A)
4g.154569674C>GCA358515179FGBc.1119C>G (p.Asn373Lys)
n.939+367C>G
c.462C>G (p.Asn154Lys)
c.942C>G (p.Asn314Lys)
c.987C>G (p.Asn329Lys)
c.819C>G (p.Asn273Lys)
c.1110C>G (p.Asn370Lys)
c.1080+39C>G (n.1080+39C>G)
4g.154569674C>TCA442013423FGBc.1119C>T (p.Asn373=)
n.939+367C>T
c.462C>T (p.Asn154=)
c.942C>T (p.Asn314=)
c.987C>T (p.Asn329=)
c.819C>T (p.Asn273=)
c.1110C>T (p.Asn370=)
c.1080+39C>T (n.1080+39C>T)
4g.154569675A>CCA358515181FGBc.1120A>C (p.Lys374Gln)
n.939+368A>C
c.463A>C (p.Lys155Gln)
c.943A>C (p.Lys315Gln)
c.988A>C (p.Lys330Gln)
c.820A>C (p.Lys274Gln)
c.1111A>C (p.Lys371Gln)
c.1080+40A>C (n.1080+40A>C)
4g.154569675A>GCA358515183FGBc.1120A>G (p.Lys374Glu)
n.939+368A>G
c.463A>G (p.Lys155Glu)
c.943A>G (p.Lys315Glu)
c.988A>G (p.Lys330Glu)
c.820A>G (p.Lys274Glu)
c.1111A>G (p.Lys371Glu)
c.1080+40A>G (n.1080+40A>G)
4g.154569675A>TCA358515185FGBc.1120A>T (p.Lys374Ter)
n.939+368A>T
c.463A>T (p.Lys155Ter)
c.943A>T (p.Lys315Ter)
c.988A>T (p.Lys330Ter)
c.820A>T (p.Lys274Ter)
c.1111A>T (p.Lys371Ter)
c.1080+40A>T (n.1080+40A>T)

Number of alleles fetched