Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.154569704_154569724dupCA2672441503FGBc.1149_1169dup (p.Leu390_Met391insMetAspGlyAlaSerGlnLeu)
n.939+397_939+417dup
c.492_512dup (p.Leu171_Met172insMetAspGlyAlaSerGlnLeu)
c.972_992dup (p.Leu331_Met332insMetAspGlyAlaSerGlnLeu)
c.1017_1037dup (p.Leu346_Met347insMetAspGlyAlaSerGlnLeu)
c.849_869dup (p.Leu290_Met291insMetAspGlyAlaSerGlnLeu)
c.1140_1160dup (p.Leu387_Met388insMetAspGlyAlaSerGlnLeu)
c.1081-69_1081-49dup (n.1081-69_1081-49dup)
 gnomAD v4
4g.154569703T>ACA358515287FGBc.1148T>A (p.Leu383His)
n.939+396T>A
c.491T>A (p.Leu164His)
c.971T>A (p.Leu324His)
c.1016T>A (p.Leu339His)
c.848T>A (p.Leu283His)
c.1139T>A (p.Leu380His)
c.1080+68T>A (n.1080+68T>A)
4g.154569703T>CCA358515286FGBc.1148T>C (p.Leu383Pro)
n.939+396T>C
c.491T>C (p.Leu164Pro)
c.971T>C (p.Leu324Pro)
c.1016T>C (p.Leu339Pro)
c.848T>C (p.Leu283Pro)
c.1139T>C (p.Leu380Pro)
c.1080+68T>C (n.1080+68T>C)
4g.154569703T>GCA126442FGBc.1148T>G (p.Leu383Arg)
n.939+396T>G
c.491T>G (p.Leu164Arg)
c.971T>G (p.Leu324Arg)
c.1016T>G (p.Leu339Arg)
c.848T>G (p.Leu283Arg)
c.1139T>G (p.Leu380Arg)
c.1080+68T>G (n.1080+68T>G)
 ClinVar dbSNP
4g.154569703T=CA1504935521FGBc.1148T= (p.Leu383=)
n.939+396T=
c.491T= (p.Leu164=)
c.971T= (p.Leu324=)
c.1016T= (p.Leu339=)
c.848T= (p.Leu283=)
c.1139T= (p.Leu380=)
c.1080+68T= (n.1080+68T=)
4g.154569704C>ACA442013488FGBc.1149C>A (p.Leu383=)
n.939+397C>A
c.492C>A (p.Leu164=)
c.972C>A (p.Leu324=)
c.1017C>A (p.Leu339=)
c.849C>A (p.Leu283=)
c.1140C>A (p.Leu380=)
c.1081-69C>A (n.1081-69C>A)
4g.154569704C=CA1504935526FGBc.1149C= (p.Leu383=)
n.939+397C=
c.492C= (p.Leu164=)
c.972C= (p.Leu324=)
c.1017C= (p.Leu339=)
c.849C= (p.Leu283=)
c.1140C= (p.Leu380=)
c.1081-69C= (n.1081-69C=)
4g.154569704C>GCA442013489FGBc.1149C>G (p.Leu383=)
n.939+397C>G
c.492C>G (p.Leu164=)
c.972C>G (p.Leu324=)
c.1017C>G (p.Leu339=)
c.849C>G (p.Leu283=)
c.1140C>G (p.Leu380=)
c.1081-69C>G (n.1081-69C>G)
4g.154569704C>TCA108751707FGBc.1149C>T (p.Leu383=)
n.939+397C>T
c.492C>T (p.Leu164=)
c.972C>T (p.Leu324=)
c.1017C>T (p.Leu339=)
c.849C>T (p.Leu283=)
c.1140C>T (p.Leu380=)
c.1081-69C>T (n.1081-69C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569705A=CA1504935530FGBc.1150A= (p.Met384=)
n.939+398A=
c.493A= (p.Met165=)
c.973A= (p.Met325=)
c.1018A= (p.Met340=)
c.850A= (p.Met284=)
c.1141A= (p.Met381=)
c.1081-68A= (n.1081-68A=)
4g.154569705A>CCA358515291FGBc.1150A>C (p.Met384Leu)
n.939+398A>C
c.493A>C (p.Met165Leu)
c.973A>C (p.Met325Leu)
c.1018A>C (p.Met340Leu)
c.850A>C (p.Met284Leu)
c.1141A>C (p.Met381Leu)
c.1081-68A>C (n.1081-68A>C)
4g.154569705A>GCA358515292FGBc.1150A>G (p.Met384Val)
n.939+398A>G
c.493A>G (p.Met165Val)
c.973A>G (p.Met325Val)
c.1018A>G (p.Met340Val)
c.850A>G (p.Met284Val)
c.1141A>G (p.Met381Val)
c.1081-68A>G (n.1081-68A>G)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
4g.154569705A>TCA358515294FGBc.1150A>T (p.Met384Leu)
n.939+398A>T
c.493A>T (p.Met165Leu)
c.973A>T (p.Met325Leu)
c.1018A>T (p.Met340Leu)
c.850A>T (p.Met284Leu)
c.1141A>T (p.Met381Leu)
c.1081-68A>T (n.1081-68A>T)
4g.154569706T>ACA358515296FGBc.1151T>A (p.Met384Lys)
n.939+399T>A
c.494T>A (p.Met165Lys)
c.974T>A (p.Met325Lys)
c.1019T>A (p.Met340Lys)
c.851T>A (p.Met284Lys)
c.1142T>A (p.Met381Lys)
c.1081-67T>A (n.1081-67T>A)
4g.154569706T>CCA358515298FGBc.1151T>C (p.Met384Thr)
n.939+399T>C
c.494T>C (p.Met165Thr)
c.974T>C (p.Met325Thr)
c.1019T>C (p.Met340Thr)
c.851T>C (p.Met284Thr)
c.1142T>C (p.Met381Thr)
c.1081-67T>C (n.1081-67T>C)
 gnomAD v4
4g.154569706T>GCA358515299FGBc.1151T>G (p.Met384Arg)
n.939+399T>G
c.494T>G (p.Met165Arg)
c.974T>G (p.Met325Arg)
c.1019T>G (p.Met340Arg)
c.851T>G (p.Met284Arg)
c.1142T>G (p.Met381Arg)
c.1081-67T>G (n.1081-67T>G)
4g.154569707G>ACA358515300FGBc.1152G>A (p.Met384Ile)
n.939+400G>A
c.495G>A (p.Met165Ile)
c.975G>A (p.Met325Ile)
c.1020G>A (p.Met340Ile)
c.852G>A (p.Met284Ile)
c.1143G>A (p.Met381Ile)
c.1081-66G>A (n.1081-66G>A)
4g.154569707G>CCA358515301FGBc.1152G>C (p.Met384Ile)
n.939+400G>C
c.495G>C (p.Met165Ile)
c.975G>C (p.Met325Ile)
c.1020G>C (p.Met340Ile)
c.852G>C (p.Met284Ile)
c.1143G>C (p.Met381Ile)
c.1081-66G>C (n.1081-66G>C)
4g.154569707G=CA1504935534FGBc.1152G= (p.Met384=)
n.939+400G=
c.495G= (p.Met165=)
c.975G= (p.Met325=)
c.1020G= (p.Met340=)
c.852G= (p.Met284=)
c.1143G= (p.Met381=)
c.1081-66G= (n.1081-66G=)
4g.154569707G>TCA3114731FGBc.1152G>T (p.Met384Ile)
n.939+400G>T
c.495G>T (p.Met165Ile)
c.975G>T (p.Met325Ile)
c.1020G>T (p.Met340Ile)
c.852G>T (p.Met284Ile)
c.1143G>T (p.Met381Ile)
c.1081-66G>T (n.1081-66G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569708G>ACA358515304FGBc.1153G>A (p.Asp385Asn)
n.939+401G>A
c.496G>A (p.Asp166Asn)
c.976G>A (p.Asp326Asn)
c.1021G>A (p.Asp341Asn)
c.853G>A (p.Asp285Asn)
c.1144G>A (p.Asp382Asn)
c.1081-65G>A (n.1081-65G>A)
4g.154569708G>CCA358515305FGBc.1153G>C (p.Asp385His)
n.939+401G>C
c.496G>C (p.Asp166His)
c.976G>C (p.Asp326His)
c.1021G>C (p.Asp341His)
c.853G>C (p.Asp285His)
c.1144G>C (p.Asp382His)
c.1081-65G>C (n.1081-65G>C)
4g.154569708G>TCA358515306FGBc.1153G>T (p.Asp385Tyr)
n.939+401G>T
c.496G>T (p.Asp166Tyr)
c.976G>T (p.Asp326Tyr)
c.1021G>T (p.Asp341Tyr)
c.853G>T (p.Asp285Tyr)
c.1144G>T (p.Asp382Tyr)
c.1081-65G>T (n.1081-65G>T)
4g.154569709A>CCA358515310FGBc.1154A>C (p.Asp385Ala)
n.939+402A>C
c.497A>C (p.Asp166Ala)
c.977A>C (p.Asp326Ala)
c.1022A>C (p.Asp341Ala)
c.854A>C (p.Asp285Ala)
c.1145A>C (p.Asp382Ala)
c.1081-64A>C (n.1081-64A>C)
4g.154569709A>GCA358515311FGBc.1154A>G (p.Asp385Gly)
n.939+402A>G
c.497A>G (p.Asp166Gly)
c.977A>G (p.Asp326Gly)
c.1022A>G (p.Asp341Gly)
c.854A>G (p.Asp285Gly)
c.1145A>G (p.Asp382Gly)
c.1081-64A>G (n.1081-64A>G)
4g.154569709A>TCA358515308FGBc.1154A>T (p.Asp385Val)
n.939+402A>T
c.497A>T (p.Asp166Val)
c.977A>T (p.Asp326Val)
c.1022A>T (p.Asp341Val)
c.854A>T (p.Asp285Val)
c.1145A>T (p.Asp382Val)
c.1081-64A>T (n.1081-64A>T)
4g.154569710T>ACA358515313FGBc.1155T>A (p.Asp385Glu)
n.939+403T>A
c.498T>A (p.Asp166Glu)
c.978T>A (p.Asp326Glu)
c.1023T>A (p.Asp341Glu)
c.855T>A (p.Asp285Glu)
c.1146T>A (p.Asp382Glu)
c.1081-63T>A (n.1081-63T>A)
4g.154569710T>CCA442013502FGBc.1155T>C (p.Asp385=)
n.939+403T>C
c.498T>C (p.Asp166=)
c.978T>C (p.Asp326=)
c.1023T>C (p.Asp341=)
c.855T>C (p.Asp285=)
c.1146T>C (p.Asp382=)
c.1081-63T>C (n.1081-63T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.154569710T>GCA358515315FGBc.1155T>G (p.Asp385Glu)
n.939+403T>G
c.498T>G (p.Asp166Glu)
c.978T>G (p.Asp326Glu)
c.1023T>G (p.Asp341Glu)
c.855T>G (p.Asp285Glu)
c.1146T>G (p.Asp382Glu)
c.1081-63T>G (n.1081-63T>G)
4g.154569710T=CA1504935537FGBc.1155T= (p.Asp385=)
n.939+403T=
c.498T= (p.Asp166=)
c.978T= (p.Asp326=)
c.1023T= (p.Asp341=)
c.855T= (p.Asp285=)
c.1146T= (p.Asp382=)
c.1081-63T= (n.1081-63T=)
4g.154569711G>ACA358515316FGBc.1156G>A (p.Gly386Arg)
n.939+404G>A
c.499G>A (p.Gly167Arg)
c.979G>A (p.Gly327Arg)
c.1024G>A (p.Gly342Arg)
c.856G>A (p.Gly286Arg)
c.1147G>A (p.Gly383Arg)
c.1081-62G>A (n.1081-62G>A)
4g.154569711G>CCA358515319FGBc.1156G>C (p.Gly386Arg)
n.939+404G>C
c.499G>C (p.Gly167Arg)
c.979G>C (p.Gly327Arg)
c.1024G>C (p.Gly342Arg)
c.856G>C (p.Gly286Arg)
c.1147G>C (p.Gly383Arg)
c.1081-62G>C (n.1081-62G>C)
4g.154569711G>TCA358515320FGBc.1156G>T (p.Gly386Ter)
n.939+404G>T
c.499G>T (p.Gly167Ter)
c.979G>T (p.Gly327Ter)
c.1024G>T (p.Gly342Ter)
c.856G>T (p.Gly286Ter)
c.1147G>T (p.Gly383Ter)
c.1081-62G>T (n.1081-62G>T)
4g.154569712G>ACA358515322FGBc.1157G>A (p.Gly386Glu)
n.939+405G>A
c.500G>A (p.Gly167Glu)
c.980G>A (p.Gly327Glu)
c.1025G>A (p.Gly342Glu)
c.857G>A (p.Gly286Glu)
c.1148G>A (p.Gly383Glu)
c.1081-61G>A (n.1081-61G>A)
4g.154569712G>CCA358515323FGBc.1157G>C (p.Gly386Ala)
n.939+405G>C
c.500G>C (p.Gly167Ala)
c.980G>C (p.Gly327Ala)
c.1025G>C (p.Gly342Ala)
c.857G>C (p.Gly286Ala)
c.1148G>C (p.Gly383Ala)
c.1081-61G>C (n.1081-61G>C)
4g.154569712G>TCA358515325FGBc.1157G>T (p.Gly386Val)
n.939+405G>T
c.500G>T (p.Gly167Val)
c.980G>T (p.Gly327Val)
c.1025G>T (p.Gly342Val)
c.857G>T (p.Gly286Val)
c.1148G>T (p.Gly383Val)
c.1081-61G>T (n.1081-61G>T)
4g.154569713A=CA1504935541FGBc.1158A= (p.Gly386=)
n.939+406A=
c.501A= (p.Gly167=)
c.981A= (p.Gly327=)
c.1026A= (p.Gly342=)
c.858A= (p.Gly286=)
c.1149A= (p.Gly383=)
c.1081-60A= (n.1081-60A=)
4g.154569713A>CCA442013512FGBc.1158A>C (p.Gly386=)
n.939+406A>C
c.501A>C (p.Gly167=)
c.981A>C (p.Gly327=)
c.1026A>C (p.Gly342=)
c.858A>C (p.Gly286=)
c.1149A>C (p.Gly383=)
c.1081-60A>C (n.1081-60A>C)
4g.154569713A>GCA442013510FGBc.1158A>G (p.Gly386=)
n.939+406A>G
c.501A>G (p.Gly167=)
c.981A>G (p.Gly327=)
c.1026A>G (p.Gly342=)
c.858A>G (p.Gly286=)
c.1149A>G (p.Gly383=)
c.1081-60A>G (n.1081-60A>G)
 dbSNP
4g.154569713A>TCA442013509FGBc.1158A>T (p.Gly386=)
n.939+406A>T
c.501A>T (p.Gly167=)
c.981A>T (p.Gly327=)
c.1026A>T (p.Gly342=)
c.858A>T (p.Gly286=)
c.1149A>T (p.Gly383=)
c.1081-60A>T (n.1081-60A>T)
4g.154569714G>ACA358515327FGBc.1159G>A (p.Ala387Thr)
n.939+407G>A
c.502G>A (p.Ala168Thr)
c.982G>A (p.Ala328Thr)
c.1027G>A (p.Ala343Thr)
c.859G>A (p.Ala287Thr)
c.1150G>A (p.Ala384Thr)
c.1081-59G>A (n.1081-59G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.154569714G>CCA358515329FGBc.1159G>C (p.Ala387Pro)
n.939+407G>C
c.502G>C (p.Ala168Pro)
c.982G>C (p.Ala328Pro)
c.1027G>C (p.Ala343Pro)
c.859G>C (p.Ala287Pro)
c.1150G>C (p.Ala384Pro)
c.1081-59G>C (n.1081-59G>C)
4g.154569714G=CA1504935545FGBc.1159G= (p.Ala387=)
n.939+407G=
c.502G= (p.Ala168=)
c.982G= (p.Ala328=)
c.1027G= (p.Ala343=)
c.859G= (p.Ala287=)
c.1150G= (p.Ala384=)
c.1081-59G= (n.1081-59G=)
4g.154569714G>TCA358515330FGBc.1159G>T (p.Ala387Ser)
n.939+407G>T
c.502G>T (p.Ala168Ser)
c.982G>T (p.Ala328Ser)
c.1027G>T (p.Ala343Ser)
c.859G>T (p.Ala287Ser)
c.1150G>T (p.Ala384Ser)
c.1081-59G>T (n.1081-59G>T)
 dbSNP
4g.154569715C>ACA358515336FGBc.1160C>A (p.Ala387Glu)
n.939+408C>A
c.503C>A (p.Ala168Glu)
c.983C>A (p.Ala328Glu)
c.1028C>A (p.Ala343Glu)
c.860C>A (p.Ala287Glu)
c.1151C>A (p.Ala384Glu)
c.1081-58C>A (n.1081-58C>A)
4g.154569715C>GCA358515334FGBc.1160C>G (p.Ala387Gly)
n.939+408C>G
c.503C>G (p.Ala168Gly)
c.983C>G (p.Ala328Gly)
c.1028C>G (p.Ala343Gly)
c.860C>G (p.Ala287Gly)
c.1151C>G (p.Ala384Gly)
c.1081-58C>G (n.1081-58C>G)
4g.154569715C>TCA358515332FGBc.1160C>T (p.Ala387Val)
n.939+408C>T
c.503C>T (p.Ala168Val)
c.983C>T (p.Ala328Val)
c.1028C>T (p.Ala343Val)
c.860C>T (p.Ala287Val)
c.1151C>T (p.Ala384Val)
c.1081-58C>T (n.1081-58C>T)
 COSMIC
4g.154569716A=CA1504935547FGBc.1161A= (p.Ala387=)
n.939+409A=
c.504A= (p.Ala168=)
c.984A= (p.Ala328=)
c.1029A= (p.Ala343=)
c.861A= (p.Ala287=)
c.1152A= (p.Ala384=)
c.1081-57A= (n.1081-57A=)
4g.154569716A>CCA442013514FGBc.1161A>C (p.Ala387=)
n.939+409A>C
c.504A>C (p.Ala168=)
c.984A>C (p.Ala328=)
c.1029A>C (p.Ala343=)
c.861A>C (p.Ala287=)
c.1152A>C (p.Ala384=)
c.1081-57A>C (n.1081-57A>C)
 dbSNP
4g.154569716A>GCA442013517FGBc.1161A>G (p.Ala387=)
n.939+409A>G
c.504A>G (p.Ala168=)
c.984A>G (p.Ala328=)
c.1029A>G (p.Ala343=)
c.861A>G (p.Ala287=)
c.1152A>G (p.Ala384=)
c.1081-57A>G (n.1081-57A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.154569716A>TCA442013520FGBc.1161A>T (p.Ala387=)
n.939+409A>T
c.504A>T (p.Ala168=)
c.984A>T (p.Ala328=)
c.1029A>T (p.Ala343=)
c.861A>T (p.Ala287=)
c.1152A>T (p.Ala384=)
c.1081-57A>T (n.1081-57A>T)
 gnomAD v4
4g.154569717T>ACA3114732FGBc.1162T>A (p.Ser388Thr)
n.939+410T>A
c.505T>A (p.Ser169Thr)
c.985T>A (p.Ser329Thr)
c.1030T>A (p.Ser344Thr)
c.862T>A (p.Ser288Thr)
c.1153T>A (p.Ser385Thr)
c.1081-56T>A (n.1081-56T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569717T>CCA358515338FGBc.1162T>C (p.Ser388Pro)
n.939+410T>C
c.505T>C (p.Ser169Pro)
c.985T>C (p.Ser329Pro)
c.1030T>C (p.Ser344Pro)
c.862T>C (p.Ser288Pro)
c.1153T>C (p.Ser385Pro)
c.1081-56T>C (n.1081-56T>C)
 dbSNP
4g.154569717T>GCA358515340FGBc.1162T>G (p.Ser388Ala)
n.939+410T>G
c.505T>G (p.Ser169Ala)
c.985T>G (p.Ser329Ala)
c.1030T>G (p.Ser344Ala)
c.862T>G (p.Ser288Ala)
c.1153T>G (p.Ser385Ala)
c.1081-56T>G (n.1081-56T>G)
4g.154569717T=CA1504935550FGBc.1162T= (p.Ser388=)
n.939+410T=
c.505T= (p.Ser169=)
c.985T= (p.Ser329=)
c.1030T= (p.Ser344=)
c.862T= (p.Ser288=)
c.1153T= (p.Ser385=)
c.1081-56T= (n.1081-56T=)
4g.154569718C>ACA358515341FGBc.1163C>A (p.Ser388Tyr)
n.939+411C>A
c.506C>A (p.Ser169Tyr)
c.986C>A (p.Ser329Tyr)
c.1031C>A (p.Ser344Tyr)
c.863C>A (p.Ser288Tyr)
c.1154C>A (p.Ser385Tyr)
c.1081-55C>A (n.1081-55C>A)
4g.154569718C>GCA358515342FGBc.1163C>G (p.Ser388Cys)
n.939+411C>G
c.506C>G (p.Ser169Cys)
c.986C>G (p.Ser329Cys)
c.1031C>G (p.Ser344Cys)
c.863C>G (p.Ser288Cys)
c.1154C>G (p.Ser385Cys)
c.1081-55C>G (n.1081-55C>G)
4g.154569718C>TCA358515344FGBc.1163C>T (p.Ser388Phe)
n.939+411C>T
c.506C>T (p.Ser169Phe)
c.986C>T (p.Ser329Phe)
c.1031C>T (p.Ser344Phe)
c.863C>T (p.Ser288Phe)
c.1154C>T (p.Ser385Phe)
c.1081-55C>T (n.1081-55C>T)
4g.154569719T>ACA442013530FGBc.1164T>A (p.Ser388=)
n.939+412T>A
c.507T>A (p.Ser169=)
c.987T>A (p.Ser329=)
c.1032T>A (p.Ser344=)
c.864T>A (p.Ser288=)
c.1155T>A (p.Ser385=)
c.1081-54T>A (n.1081-54T>A)
 gnomAD v4
4g.154569719T>CCA442013532FGBc.1164T>C (p.Ser388=)
n.939+412T>C
c.507T>C (p.Ser169=)
c.987T>C (p.Ser329=)
c.1032T>C (p.Ser344=)
c.864T>C (p.Ser288=)
c.1155T>C (p.Ser385=)
c.1081-54T>C (n.1081-54T>C)
4g.154569719T>GCA442013533FGBc.1164T>G (p.Ser388=)
n.939+412T>G
c.507T>G (p.Ser169=)
c.987T>G (p.Ser329=)
c.1032T>G (p.Ser344=)
c.864T>G (p.Ser288=)
c.1155T>G (p.Ser385=)
c.1081-54T>G (n.1081-54T>G)
4g.154569720C>ACA358515346FGBc.1165C>A (p.Gln389Lys)
n.939+413C>A
c.508C>A (p.Gln170Lys)
c.988C>A (p.Gln330Lys)
c.1033C>A (p.Gln345Lys)
c.865C>A (p.Gln289Lys)
c.1156C>A (p.Gln386Lys)
c.1081-53C>A (n.1081-53C>A)
4g.154569720C>GCA358515347FGBc.1165C>G (p.Gln389Glu)
n.939+413C>G
c.508C>G (p.Gln170Glu)
c.988C>G (p.Gln330Glu)
c.1033C>G (p.Gln345Glu)
c.865C>G (p.Gln289Glu)
c.1156C>G (p.Gln386Glu)
c.1081-53C>G (n.1081-53C>G)
4g.154569720C>TCA358515348FGBc.1165C>T (p.Gln389Ter)
n.939+413C>T
c.508C>T (p.Gln170Ter)
c.988C>T (p.Gln330Ter)
c.1033C>T (p.Gln345Ter)
c.865C>T (p.Gln289Ter)
c.1156C>T (p.Gln386Ter)
c.1081-53C>T (n.1081-53C>T)
4g.154569721A>CCA358515351FGBc.1166A>C (p.Gln389Pro)
n.939+414A>C
c.509A>C (p.Gln170Pro)
c.989A>C (p.Gln330Pro)
c.1034A>C (p.Gln345Pro)
c.866A>C (p.Gln289Pro)
c.1157A>C (p.Gln386Pro)
c.1081-52A>C (n.1081-52A>C)
4g.154569721A>GCA358515353FGBc.1166A>G (p.Gln389Arg)
n.939+414A>G
c.509A>G (p.Gln170Arg)
c.989A>G (p.Gln330Arg)
c.1034A>G (p.Gln345Arg)
c.866A>G (p.Gln289Arg)
c.1157A>G (p.Gln386Arg)
c.1081-52A>G (n.1081-52A>G)
4g.154569721A>TCA358515354FGBc.1166A>T (p.Gln389Leu)
n.939+414A>T
c.509A>T (p.Gln170Leu)
c.989A>T (p.Gln330Leu)
c.1034A>T (p.Gln345Leu)
c.866A>T (p.Gln289Leu)
c.1157A>T (p.Gln386Leu)
c.1081-52A>T (n.1081-52A>T)
4g.154569722G>ACA442013537FGBc.1167G>A (p.Gln389=)
n.939+415G>A
c.510G>A (p.Gln170=)
c.990G>A (p.Gln330=)
c.1035G>A (p.Gln345=)
c.867G>A (p.Gln289=)
c.1158G>A (p.Gln386=)
c.1081-51G>A (n.1081-51G>A)
 dbSNP gnomAD v4
4g.154569722G>CCA358515358FGBc.1167G>C (p.Gln389His)
n.939+415G>C
c.510G>C (p.Gln170His)
c.990G>C (p.Gln330His)
c.1035G>C (p.Gln345His)
c.867G>C (p.Gln289His)
c.1158G>C (p.Gln386His)
c.1081-51G>C (n.1081-51G>C)
4g.154569722G=CA1504935553FGBc.1167G= (p.Gln389=)
n.939+415G=
c.510G= (p.Gln170=)
c.990G= (p.Gln330=)
c.1035G= (p.Gln345=)
c.867G= (p.Gln289=)
c.1158G= (p.Gln386=)
c.1081-51G= (n.1081-51G=)
4g.154569722G>TCA358515356FGBc.1167G>T (p.Gln389His)
n.939+415G>T
c.510G>T (p.Gln170His)
c.990G>T (p.Gln330His)
c.1035G>T (p.Gln345His)
c.867G>T (p.Gln289His)
c.1158G>T (p.Gln386His)
c.1081-51G>T (n.1081-51G>T)
4g.154569723C>ACA358515359FGBc.1168C>A (p.Leu390Met)
n.939+416C>A
c.511C>A (p.Leu171Met)
c.991C>A (p.Leu331Met)
c.1036C>A (p.Leu346Met)
c.868C>A (p.Leu290Met)
c.1159C>A (p.Leu387Met)
c.1081-50C>A (n.1081-50C>A)
4g.154569723C>GCA358515361FGBc.1168C>G (p.Leu390Val)
n.939+416C>G
c.511C>G (p.Leu171Val)
c.991C>G (p.Leu331Val)
c.1036C>G (p.Leu346Val)
c.868C>G (p.Leu290Val)
c.1159C>G (p.Leu387Val)
c.1081-50C>G (n.1081-50C>G)
4g.154569723C>TCA442013538FGBc.1168C>T (p.Leu390=)
n.939+416C>T
c.511C>T (p.Leu171=)
c.991C>T (p.Leu331=)
c.1036C>T (p.Leu346=)
c.868C>T (p.Leu290=)
c.1159C>T (p.Leu387=)
c.1081-50C>T (n.1081-50C>T)
4g.154569724T>ACA358515363FGBc.1169T>A (p.Leu390Gln)
n.939+417T>A
c.512T>A (p.Leu171Gln)
c.992T>A (p.Leu331Gln)
c.1037T>A (p.Leu346Gln)
c.869T>A (p.Leu290Gln)
c.1160T>A (p.Leu387Gln)
c.1081-49T>A (n.1081-49T>A)
4g.154569724T>CCA358515365FGBc.1169T>C (p.Leu390Pro)
n.939+417T>C
c.512T>C (p.Leu171Pro)
c.992T>C (p.Leu331Pro)
c.1037T>C (p.Leu346Pro)
c.869T>C (p.Leu290Pro)
c.1160T>C (p.Leu387Pro)
c.1081-49T>C (n.1081-49T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.154569724T>GCA358515366FGBc.1169T>G (p.Leu390Arg)
n.939+417T>G
c.512T>G (p.Leu171Arg)
c.992T>G (p.Leu331Arg)
c.1037T>G (p.Leu346Arg)
c.869T>G (p.Leu290Arg)
c.1160T>G (p.Leu387Arg)
c.1081-49T>G (n.1081-49T>G)
4g.154569724T=CA1504935557FGBc.1169T= (p.Leu390=)
n.939+417T=
c.512T= (p.Leu171=)
c.992T= (p.Leu331=)
c.1037T= (p.Leu346=)
c.869T= (p.Leu290=)
c.1160T= (p.Leu387=)
c.1081-49T= (n.1081-49T=)
4g.154569725G>ACA442013543FGBc.1170G>A (p.Leu390=)
n.939+418G>A
c.513G>A (p.Leu171=)
c.993G>A (p.Leu331=)
c.1038G>A (p.Leu346=)
c.870G>A (p.Leu290=)
c.1161G>A (p.Leu387=)
c.1081-48G>A (n.1081-48G>A)
4g.154569725G>CCA442013544FGBc.1170G>C (p.Leu390=)
n.939+418G>C
c.513G>C (p.Leu171=)
c.993G>C (p.Leu331=)
c.1038G>C (p.Leu346=)
c.870G>C (p.Leu290=)
c.1161G>C (p.Leu387=)
c.1081-48G>C (n.1081-48G>C)
4g.154569725G>TCA442013545FGBc.1170G>T (p.Leu390=)
n.939+418G>T
c.513G>T (p.Leu171=)
c.993G>T (p.Leu331=)
c.1038G>T (p.Leu346=)
c.870G>T (p.Leu290=)
c.1161G>T (p.Leu387=)
c.1081-48G>T (n.1081-48G>T)
4g.154569726A=CA1504935559FGBc.1171A= (p.Met391=)
n.939+419A=
c.514A= (p.Met172=)
c.994A= (p.Met332=)
c.1039A= (p.Met347=)
c.871A= (p.Met291=)
c.1162A= (p.Met388=)
c.1081-47A= (n.1081-47A=)
4g.154569726A>CCA358515368FGBc.1171A>C (p.Met391Leu)
n.939+419A>C
c.514A>C (p.Met172Leu)
c.994A>C (p.Met332Leu)
c.1039A>C (p.Met347Leu)
c.871A>C (p.Met291Leu)
c.1162A>C (p.Met388Leu)
c.1081-47A>C (n.1081-47A>C)
4g.154569726A>GCA358515370FGBc.1171A>G (p.Met391Val)
n.939+419A>G
c.514A>G (p.Met172Val)
c.994A>G (p.Met332Val)
c.1039A>G (p.Met347Val)
c.871A>G (p.Met291Val)
c.1162A>G (p.Met388Val)
c.1081-47A>G (n.1081-47A>G)
 dbSNP gnomAD v4
4g.154569726A>TCA358515372FGBc.1171A>T (p.Met391Leu)
n.939+419A>T
c.514A>T (p.Met172Leu)
c.994A>T (p.Met332Leu)
c.1039A>T (p.Met347Leu)
c.871A>T (p.Met291Leu)
c.1162A>T (p.Met388Leu)
c.1081-47A>T (n.1081-47A>T)
4g.154569727T>ACA358515373FGBc.1172T>A (p.Met391Lys)
n.939+420T>A
c.515T>A (p.Met172Lys)
c.995T>A (p.Met332Lys)
c.1040T>A (p.Met347Lys)
c.872T>A (p.Met291Lys)
c.1163T>A (p.Met388Lys)
c.1081-46T>A (n.1081-46T>A)
4g.154569727T>CCA3114733FGBc.1172T>C (p.Met391Thr)
n.939+420T>C
c.515T>C (p.Met172Thr)
c.995T>C (p.Met332Thr)
c.1040T>C (p.Met347Thr)
c.872T>C (p.Met291Thr)
c.1163T>C (p.Met388Thr)
c.1081-46T>C (n.1081-46T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569727T>GCA358515374FGBc.1172T>G (p.Met391Arg)
n.939+420T>G
c.515T>G (p.Met172Arg)
c.995T>G (p.Met332Arg)
c.1040T>G (p.Met347Arg)
c.872T>G (p.Met291Arg)
c.1163T>G (p.Met388Arg)
c.1081-46T>G (n.1081-46T>G)
4g.154569727T=CA1504935562FGBc.1172T= (p.Met391=)
n.939+420T=
c.515T= (p.Met172=)
c.995T= (p.Met332=)
c.1040T= (p.Met347=)
c.872T= (p.Met291=)
c.1163T= (p.Met388=)
c.1081-46T= (n.1081-46T=)
4g.154569728G>ACA358515375FGBc.1173G>A (p.Met391Ile)
n.939+421G>A
c.516G>A (p.Met172Ile)
c.996G>A (p.Met332Ile)
c.1041G>A (p.Met347Ile)
c.873G>A (p.Met291Ile)
c.1164G>A (p.Met388Ile)
c.1081-45G>A (n.1081-45G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.154569728G>CCA358515378FGBc.1173G>C (p.Met391Ile)
n.939+421G>C
c.516G>C (p.Met172Ile)
c.996G>C (p.Met332Ile)
c.1041G>C (p.Met347Ile)
c.873G>C (p.Met291Ile)
c.1164G>C (p.Met388Ile)
c.1081-45G>C (n.1081-45G>C)
4g.154569728G=CA1504935566FGBc.1173G= (p.Met391=)
n.939+421G=
c.516G= (p.Met172=)
c.996G= (p.Met332=)
c.1041G= (p.Met347=)
c.873G= (p.Met291=)
c.1164G= (p.Met388=)
c.1081-45G= (n.1081-45G=)
4g.154569728G>TCA358515380FGBc.1173G>T (p.Met391Ile)
n.939+421G>T
c.516G>T (p.Met172Ile)
c.996G>T (p.Met332Ile)
c.1041G>T (p.Met347Ile)
c.873G>T (p.Met291Ile)
c.1164G>T (p.Met388Ile)
c.1081-45G>T (n.1081-45G>T)
4g.154569729G>ACA108751724FGBc.1174G>A (p.Gly392Arg)
n.939+422G>A
c.517G>A (p.Gly173Arg)
c.997G>A (p.Gly333Arg)
c.1042G>A (p.Gly348Arg)
c.874G>A (p.Gly292Arg)
c.1165G>A (p.Gly389Arg)
c.1081-44G>A (n.1081-44G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.154569729G>CCA358515383FGBc.1174G>C (p.Gly392Arg)
n.939+422G>C
c.517G>C (p.Gly173Arg)
c.997G>C (p.Gly333Arg)
c.1042G>C (p.Gly348Arg)
c.874G>C (p.Gly292Arg)
c.1165G>C (p.Gly389Arg)
c.1081-44G>C (n.1081-44G>C)
4g.154569729G=CA1504935568FGBc.1174G= (p.Gly392=)
n.939+422G=
c.517G= (p.Gly173=)
c.997G= (p.Gly333=)
c.1042G= (p.Gly348=)
c.874G= (p.Gly292=)
c.1165G= (p.Gly389=)
c.1081-44G= (n.1081-44G=)
4g.154569729G>TCA358515381FGBc.1174G>T (p.Gly392Ter)
n.939+422G>T
c.517G>T (p.Gly173Ter)
c.997G>T (p.Gly333Ter)
c.1042G>T (p.Gly348Ter)
c.874G>T (p.Gly292Ter)
c.1165G>T (p.Gly389Ter)
c.1081-44G>T (n.1081-44G>T)
4g.154569730G>ACA358515386FGBc.1175G>A (p.Gly392Glu)
n.939+423G>A
c.518G>A (p.Gly173Glu)
c.998G>A (p.Gly333Glu)
c.1043G>A (p.Gly348Glu)
c.875G>A (p.Gly292Glu)
c.1166G>A (p.Gly389Glu)
c.1081-43G>A (n.1081-43G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569730G>CCA3114734FGBc.1175G>C (p.Gly392Ala)
n.939+423G>C
c.518G>C (p.Gly173Ala)
c.998G>C (p.Gly333Ala)
c.1043G>C (p.Gly348Ala)
c.875G>C (p.Gly292Ala)
c.1166G>C (p.Gly389Ala)
c.1081-43G>C (n.1081-43G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569730G=CA1504935570FGBc.1175G= (p.Gly392=)
n.939+423G=
c.518G= (p.Gly173=)
c.998G= (p.Gly333=)
c.1043G= (p.Gly348=)
c.875G= (p.Gly292=)
c.1166G= (p.Gly389=)
c.1081-43G= (n.1081-43G=)
4g.154569730G>TCA358515387FGBc.1175G>T (p.Gly392Val)
n.939+423G>T
c.518G>T (p.Gly173Val)
c.998G>T (p.Gly333Val)
c.1043G>T (p.Gly348Val)
c.875G>T (p.Gly292Val)
c.1166G>T (p.Gly389Val)
c.1081-43G>T (n.1081-43G>T)
4g.154569731A=CA1504935574FGBc.1176A= (p.Gly392=)
n.939+424A=
c.519A= (p.Gly173=)
c.999A= (p.Gly333=)
c.1044A= (p.Gly348=)
c.876A= (p.Gly292=)
c.1167A= (p.Gly389=)
c.1081-42A= (n.1081-42A=)
4g.154569731A>CCA442013550FGBc.1176A>C (p.Gly392=)
n.939+424A>C
c.519A>C (p.Gly173=)
c.999A>C (p.Gly333=)
c.1044A>C (p.Gly348=)
c.876A>C (p.Gly292=)
c.1167A>C (p.Gly389=)
c.1081-42A>C (n.1081-42A>C)
4g.154569731A>GCA442013551FGBc.1176A>G (p.Gly392=)
n.939+424A>G
c.519A>G (p.Gly173=)
c.999A>G (p.Gly333=)
c.1044A>G (p.Gly348=)
c.876A>G (p.Gly292=)
c.1167A>G (p.Gly389=)
c.1081-42A>G (n.1081-42A>G)
 dbSNP gnomAD v4
4g.154569731A>TCA442013552FGBc.1176A>T (p.Gly392=)
n.939+424A>T
c.519A>T (p.Gly173=)
c.999A>T (p.Gly333=)
c.1044A>T (p.Gly348=)
c.876A>T (p.Gly292=)
c.1167A>T (p.Gly389=)
c.1081-42A>T (n.1081-42A>T)
 dbSNP gnomAD v2 gnomAD v4
4g.154569732G>ACA358515390FGBc.1177G>A (p.Glu393Lys)
n.939+425G>A
c.520G>A (p.Glu174Lys)
c.1000G>A (p.Glu334Lys)
c.1045G>A (p.Glu349Lys)
c.877G>A (p.Glu293Lys)
c.1168G>A (p.Glu390Lys)
c.1081-41G>A (n.1081-41G>A)
4g.154569732G>CCA358515392FGBc.1177G>C (p.Glu393Gln)
n.939+425G>C
c.520G>C (p.Glu174Gln)
c.1000G>C (p.Glu334Gln)
c.1045G>C (p.Glu349Gln)
c.877G>C (p.Glu293Gln)
c.1168G>C (p.Glu390Gln)
c.1081-41G>C (n.1081-41G>C)
4g.154569732G>TCA358515393FGBc.1177G>T (p.Glu393Ter)
n.939+425G>T
c.520G>T (p.Glu174Ter)
c.1000G>T (p.Glu334Ter)
c.1045G>T (p.Glu349Ter)
c.877G>T (p.Glu293Ter)
c.1168G>T (p.Glu390Ter)
c.1081-41G>T (n.1081-41G>T)
4g.154569733A>CCA358515396FGBc.1178A>C (p.Glu393Ala)
n.939+426A>C
c.521A>C (p.Glu174Ala)
c.1001A>C (p.Glu334Ala)
c.1046A>C (p.Glu349Ala)
c.878A>C (p.Glu293Ala)
c.1169A>C (p.Glu390Ala)
c.1081-40A>C (n.1081-40A>C)
4g.154569733A>GCA358515398FGBc.1178A>G (p.Glu393Gly)
n.939+426A>G
c.521A>G (p.Glu174Gly)
c.1001A>G (p.Glu334Gly)
c.1046A>G (p.Glu349Gly)
c.878A>G (p.Glu293Gly)
c.1169A>G (p.Glu390Gly)
c.1081-40A>G (n.1081-40A>G)
4g.154569733A>TCA358515400FGBc.1178A>T (p.Glu393Val)
n.939+426A>T
c.521A>T (p.Glu174Val)
c.1001A>T (p.Glu334Val)
c.1046A>T (p.Glu349Val)
c.878A>T (p.Glu293Val)
c.1169A>T (p.Glu390Val)
c.1081-40A>T (n.1081-40A>T)
4g.154569734A=CA1504935577FGBc.1179A= (p.Glu393=)
n.939+427A=
c.522A= (p.Glu174=)
c.1002A= (p.Glu334=)
c.1047A= (p.Glu349=)
c.879A= (p.Glu293=)
c.1170A= (p.Glu390=)
c.1081-39A= (n.1081-39A=)
4g.154569734A>CCA358515402FGBc.1179A>C (p.Glu393Asp)
n.939+427A>C
c.522A>C (p.Glu174Asp)
c.1002A>C (p.Glu334Asp)
c.1047A>C (p.Glu349Asp)
c.879A>C (p.Glu293Asp)
c.1170A>C (p.Glu390Asp)
c.1081-39A>C (n.1081-39A>C)
4g.154569734A>GCA3114735FGBc.1179A>G (p.Glu393=)
n.939+427A>G
c.522A>G (p.Glu174=)
c.1002A>G (p.Glu334=)
c.1047A>G (p.Glu349=)
c.879A>G (p.Glu293=)
c.1170A>G (p.Glu390=)
c.1081-39A>G (n.1081-39A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569734A>TCA358515403FGBc.1179A>T (p.Glu393Asp)
n.939+427A>T
c.522A>T (p.Glu174Asp)
c.1002A>T (p.Glu334Asp)
c.1047A>T (p.Glu349Asp)
c.879A>T (p.Glu293Asp)
c.1170A>T (p.Glu390Asp)
c.1081-39A>T (n.1081-39A>T)
4g.154569735A>CCA358515409FGBc.1180A>C (p.Asn394His)
n.939+428A>C
c.523A>C (p.Asn175His)
c.1003A>C (p.Asn335His)
c.1048A>C (p.Asn350His)
c.880A>C (p.Asn294His)
c.1171A>C (p.Asn391His)
c.1081-38A>C (n.1081-38A>C)
4g.154569735A>GCA358515407FGBc.1180A>G (p.Asn394Asp)
n.939+428A>G
c.523A>G (p.Asn175Asp)
c.1003A>G (p.Asn335Asp)
c.1048A>G (p.Asn350Asp)
c.880A>G (p.Asn294Asp)
c.1171A>G (p.Asn391Asp)
c.1081-38A>G (n.1081-38A>G)
4g.154569735A>TCA358515405FGBc.1180A>T (p.Asn394Tyr)
n.939+428A>T
c.523A>T (p.Asn175Tyr)
c.1003A>T (p.Asn335Tyr)
c.1048A>T (p.Asn350Tyr)
c.880A>T (p.Asn294Tyr)
c.1171A>T (p.Asn391Tyr)
c.1081-38A>T (n.1081-38A>T)
4g.154569736A>CCA358515410FGBc.1181A>C (p.Asn394Thr)
n.939+429A>C
c.524A>C (p.Asn175Thr)
c.1004A>C (p.Asn335Thr)
c.1049A>C (p.Asn350Thr)
c.881A>C (p.Asn294Thr)
c.1172A>C (p.Asn391Thr)
c.1081-37A>C (n.1081-37A>C)
4g.154569736A>GCA358515411FGBc.1181A>G (p.Asn394Ser)
n.939+429A>G
c.524A>G (p.Asn175Ser)
c.1004A>G (p.Asn335Ser)
c.1049A>G (p.Asn350Ser)
c.881A>G (p.Asn294Ser)
c.1172A>G (p.Asn391Ser)
c.1081-37A>G (n.1081-37A>G)
4g.154569736A>TCA358515412FGBc.1181A>T (p.Asn394Ile)
n.939+429A>T
c.524A>T (p.Asn175Ile)
c.1004A>T (p.Asn335Ile)
c.1049A>T (p.Asn350Ile)
c.881A>T (p.Asn294Ile)
c.1172A>T (p.Asn391Ile)
c.1081-37A>T (n.1081-37A>T)
4g.154569737C>ACA358515413FGBc.1182C>A (p.Asn394Lys)
n.939+430C>A
c.525C>A (p.Asn175Lys)
c.1005C>A (p.Asn335Lys)
c.1050C>A (p.Asn350Lys)
c.882C>A (p.Asn294Lys)
c.1173C>A (p.Asn391Lys)
c.1081-36C>A (n.1081-36C>A)
4g.154569737C>GCA358515415FGBc.1182C>G (p.Asn394Lys)
n.939+430C>G
c.525C>G (p.Asn175Lys)
c.1005C>G (p.Asn335Lys)
c.1050C>G (p.Asn350Lys)
c.882C>G (p.Asn294Lys)
c.1173C>G (p.Asn391Lys)
c.1081-36C>G (n.1081-36C>G)
4g.154569737C>TCA442013562FGBc.1182C>T (p.Asn394=)
n.939+430C>T
c.525C>T (p.Asn175=)
c.1005C>T (p.Asn335=)
c.1050C>T (p.Asn350=)
c.882C>T (p.Asn294=)
c.1173C>T (p.Asn391=)
c.1081-36C>T (n.1081-36C>T)
4g.154569738A=CA1504935579FGBc.1183A= (p.Arg395=)
n.939+431A=
c.526A= (p.Arg176=)
c.1006A= (p.Arg336=)
c.1051A= (p.Arg351=)
c.883A= (p.Arg295=)
c.1174A= (p.Arg392=)
c.1081-35A= (n.1081-35A=)
4g.154569738A>CCA442013563FGBc.1183A>C (p.Arg395=)
n.939+431A>C
c.526A>C (p.Arg176=)
c.1006A>C (p.Arg336=)
c.1051A>C (p.Arg351=)
c.883A>C (p.Arg295=)
c.1174A>C (p.Arg392=)
c.1081-35A>C (n.1081-35A>C)
4g.154569738A>GCA3114736FGBc.1183A>G (p.Arg395Gly)
n.939+431A>G
c.526A>G (p.Arg176Gly)
c.1006A>G (p.Arg336Gly)
c.1051A>G (p.Arg351Gly)
c.883A>G (p.Arg295Gly)
c.1174A>G (p.Arg392Gly)
c.1081-35A>G (n.1081-35A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569738A>TCA358515417FGBc.1183A>T (p.Arg395Trp)
n.939+431A>T
c.526A>T (p.Arg176Trp)
c.1006A>T (p.Arg336Trp)
c.1051A>T (p.Arg351Trp)
c.883A>T (p.Arg295Trp)
c.1174A>T (p.Arg392Trp)
c.1081-35A>T (n.1081-35A>T)
4g.154569739G>ACA358515419FGBc.1184G>A (p.Arg395Lys)
n.939+432G>A
c.527G>A (p.Arg176Lys)
c.1007G>A (p.Arg336Lys)
c.1052G>A (p.Arg351Lys)
c.884G>A (p.Arg295Lys)
c.1175G>A (p.Arg392Lys)
c.1081-34G>A (n.1081-34G>A)
 gnomAD v4
4g.154569739G>CCA358515420FGBc.1184G>C (p.Arg395Thr)
n.939+432G>C
c.527G>C (p.Arg176Thr)
c.1007G>C (p.Arg336Thr)
c.1052G>C (p.Arg351Thr)
c.884G>C (p.Arg295Thr)
c.1175G>C (p.Arg392Thr)
c.1081-34G>C (n.1081-34G>C)
4g.154569739G>TCA358515421FGBc.1184G>T (p.Arg395Met)
n.939+432G>T
c.527G>T (p.Arg176Met)
c.1007G>T (p.Arg336Met)
c.1052G>T (p.Arg351Met)
c.884G>T (p.Arg295Met)
c.1175G>T (p.Arg392Met)
c.1081-34G>T (n.1081-34G>T)
4g.154569739_154569745delinsGGACCATCA1504935582FGBc.1184_1190delinsGGACCAT (p.Arg395=)
n.939+432_939+438delinsGGACCAT
c.527_533delinsGGACCAT (p.Arg176=)
c.1007_1013delinsGGACCAT (p.Arg336=)
c.1052_1058delinsGGACCAT (p.Arg351=)
c.884_890delinsGGACCAT (p.Arg295=)
c.1175_1181delinsGGACCAT (p.Arg392=)
c.1081-34_1081-28delinsGGACCAT (n.1081-34_1081-28delinsGGACCAT)
4g.154569740G>ACA442013568FGBc.1185G>A (p.Arg395=)
n.939+433G>A
c.528G>A (p.Arg176=)
c.1008G>A (p.Arg336=)
c.1053G>A (p.Arg351=)
c.885G>A (p.Arg295=)
c.1176G>A (p.Arg392=)
c.1081-33G>A (n.1081-33G>A)
 dbSNP gnomAD v4
4g.154569740G>CCA358515423FGBc.1185G>C (p.Arg395Ser)
n.939+433G>C
c.528G>C (p.Arg176Ser)
c.1008G>C (p.Arg336Ser)
c.1053G>C (p.Arg351Ser)
c.885G>C (p.Arg295Ser)
c.1176G>C (p.Arg392Ser)
c.1081-33G>C (n.1081-33G>C)
4g.154569740G=CA1504935587FGBc.1185G= (p.Arg395=)
n.939+433G=
c.528G= (p.Arg176=)
c.1008G= (p.Arg336=)
c.1053G= (p.Arg351=)
c.885G= (p.Arg295=)
c.1176G= (p.Arg392=)
c.1081-33G= (n.1081-33G=)
4g.154569740G>TCA358515425FGBc.1185G>T (p.Arg395Ser)
n.939+433G>T
c.528G>T (p.Arg176Ser)
c.1008G>T (p.Arg336Ser)
c.1053G>T (p.Arg351Ser)
c.885G>T (p.Arg295Ser)
c.1176G>T (p.Arg392Ser)
c.1081-33G>T (n.1081-33G>T)
4g.154569746_154569751delCA3114737FGBc.1191_1196del (p.Met397_Thr398del)
n.939+439_939+444del
c.534_539del (p.Met178_Thr179del)
c.1014_1019del (p.Met338_Thr339del)
c.1059_1064del (p.Met353_Thr354del)
c.891_896del (p.Met297_Thr298del)
c.1182_1187del (p.Met394_Thr395del)
c.1081-27_1081-22del (n.1081-27_1081-22del)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569741A>CCA358515430FGBc.1186A>C (p.Thr396Pro)
n.939+434A>C
c.529A>C (p.Thr177Pro)
c.1009A>C (p.Thr337Pro)
c.1054A>C (p.Thr352Pro)
c.886A>C (p.Thr296Pro)
c.1177A>C (p.Thr393Pro)
c.1081-32A>C (n.1081-32A>C)
4g.154569741A>GCA358515426FGBc.1186A>G (p.Thr396Ala)
n.939+434A>G
c.529A>G (p.Thr177Ala)
c.1009A>G (p.Thr337Ala)
c.1054A>G (p.Thr352Ala)
c.886A>G (p.Thr296Ala)
c.1177A>G (p.Thr393Ala)
c.1081-32A>G (n.1081-32A>G)
4g.154569741A>TCA358515428FGBc.1186A>T (p.Thr396Ser)
n.939+434A>T
c.529A>T (p.Thr177Ser)
c.1009A>T (p.Thr337Ser)
c.1054A>T (p.Thr352Ser)
c.886A>T (p.Thr296Ser)
c.1177A>T (p.Thr393Ser)
c.1081-32A>T (n.1081-32A>T)
 gnomAD v4
4g.154569742C>ACA358515431FGBc.1187C>A (p.Thr396Asn)
n.939+435C>A
c.530C>A (p.Thr177Asn)
c.1010C>A (p.Thr337Asn)
c.1055C>A (p.Thr352Asn)
c.887C>A (p.Thr296Asn)
c.1178C>A (p.Thr393Asn)
c.1081-31C>A (n.1081-31C>A)
4g.154569742C>GCA358515432FGBc.1187C>G (p.Thr396Ser)
n.939+435C>G
c.530C>G (p.Thr177Ser)
c.1010C>G (p.Thr337Ser)
c.1055C>G (p.Thr352Ser)
c.887C>G (p.Thr296Ser)
c.1178C>G (p.Thr393Ser)
c.1081-31C>G (n.1081-31C>G)
4g.154569742C>TCA358515434FGBc.1187C>T (p.Thr396Ile)
n.939+435C>T
c.530C>T (p.Thr177Ile)
c.1010C>T (p.Thr337Ile)
c.1055C>T (p.Thr352Ile)
c.887C>T (p.Thr296Ile)
c.1178C>T (p.Thr393Ile)
c.1081-31C>T (n.1081-31C>T)
 gnomAD v4
4g.154569743C>ACA442013573FGBc.1188C>A (p.Thr396=)
n.939+436C>A
c.531C>A (p.Thr177=)
c.1011C>A (p.Thr337=)
c.1056C>A (p.Thr352=)
c.888C>A (p.Thr296=)
c.1179C>A (p.Thr393=)
c.1081-30C>A (n.1081-30C>A)
 gnomAD v4 COSMIC
4g.154569743C=CA1504935590FGBc.1188C= (p.Thr396=)
n.939+436C=
c.531C= (p.Thr177=)
c.1011C= (p.Thr337=)
c.1056C= (p.Thr352=)
c.888C= (p.Thr296=)
c.1179C= (p.Thr393=)
c.1081-30C= (n.1081-30C=)
4g.154569743C>GCA442013574FGBc.1188C>G (p.Thr396=)
n.939+436C>G
c.531C>G (p.Thr177=)
c.1011C>G (p.Thr337=)
c.1056C>G (p.Thr352=)
c.888C>G (p.Thr296=)
c.1179C>G (p.Thr393=)
c.1081-30C>G (n.1081-30C>G)
 dbSNP gnomAD v2 gnomAD v4
4g.154569743C>TCA442013576FGBc.1188C>T (p.Thr396=)
n.939+436C>T
c.531C>T (p.Thr177=)
c.1011C>T (p.Thr337=)
c.1056C>T (p.Thr352=)
c.888C>T (p.Thr296=)
c.1179C>T (p.Thr393=)
c.1081-30C>T (n.1081-30C>T)
4g.154569744A=CA1504935593FGBc.1189A= (p.Met397=)
n.939+437A=
c.532A= (p.Met178=)
c.1012A= (p.Met338=)
c.1057A= (p.Met353=)
c.889A= (p.Met297=)
c.1180A= (p.Met394=)
c.1081-29A= (n.1081-29A=)
4g.154569744A>CCA358515435FGBc.1189A>C (p.Met397Leu)
n.939+437A>C
c.532A>C (p.Met178Leu)
c.1012A>C (p.Met338Leu)
c.1057A>C (p.Met353Leu)
c.889A>C (p.Met297Leu)
c.1180A>C (p.Met394Leu)
c.1081-29A>C (n.1081-29A>C)
4g.154569744A>GCA108751728FGBc.1189A>G (p.Met397Val)
n.939+437A>G
c.532A>G (p.Met178Val)
c.1012A>G (p.Met338Val)
c.1057A>G (p.Met353Val)
c.889A>G (p.Met297Val)
c.1180A>G (p.Met394Val)
c.1081-29A>G (n.1081-29A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.154569744A>TCA358515438FGBc.1189A>T (p.Met397Leu)
n.939+437A>T
c.532A>T (p.Met178Leu)
c.1012A>T (p.Met338Leu)
c.1057A>T (p.Met353Leu)
c.889A>T (p.Met297Leu)
c.1180A>T (p.Met394Leu)
c.1081-29A>T (n.1081-29A>T)
4g.154569745T>ACA358515440FGBc.1190T>A (p.Met397Lys)
n.939+438T>A
c.533T>A (p.Met178Lys)
c.1013T>A (p.Met338Lys)
c.1058T>A (p.Met353Lys)
c.890T>A (p.Met297Lys)
c.1181T>A (p.Met394Lys)
c.1081-28T>A (n.1081-28T>A)
4g.154569745T>CCA108751729FGBc.1190T>C (p.Met397Thr)
n.939+438T>C
c.533T>C (p.Met178Thr)
c.1013T>C (p.Met338Thr)
c.1058T>C (p.Met353Thr)
c.890T>C (p.Met297Thr)
c.1181T>C (p.Met394Thr)
c.1081-28T>C (n.1081-28T>C)
 dbSNP gnomAD v4
4g.154569745T>GCA358515442FGBc.1190T>G (p.Met397Arg)
n.939+438T>G
c.533T>G (p.Met178Arg)
c.1013T>G (p.Met338Arg)
c.1058T>G (p.Met353Arg)
c.890T>G (p.Met297Arg)
c.1181T>G (p.Met394Arg)
c.1081-28T>G (n.1081-28T>G)
4g.154569745T=CA1504935595FGBc.1190T= (p.Met397=)
n.939+438T=
c.533T= (p.Met178=)
c.1013T= (p.Met338=)
c.1058T= (p.Met353=)
c.890T= (p.Met297=)
c.1181T= (p.Met394=)
c.1081-28T= (n.1081-28T=)
4g.154569746G>ACA3114738FGBc.1191G>A (p.Met397Ile)
n.939+439G>A
c.534G>A (p.Met178Ile)
c.1014G>A (p.Met338Ile)
c.1059G>A (p.Met353Ile)
c.891G>A (p.Met297Ile)
c.1182G>A (p.Met394Ile)
c.1081-27G>A (n.1081-27G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569746G>CCA358515444FGBc.1191G>C (p.Met397Ile)
n.939+439G>C
c.534G>C (p.Met178Ile)
c.1014G>C (p.Met338Ile)
c.1059G>C (p.Met353Ile)
c.891G>C (p.Met297Ile)
c.1182G>C (p.Met394Ile)
c.1081-27G>C (n.1081-27G>C)
 gnomAD v4
4g.154569746G=CA1504935597FGBc.1191G= (p.Met397=)
n.939+439G=
c.534G= (p.Met178=)
c.1014G= (p.Met338=)
c.1059G= (p.Met353=)
c.891G= (p.Met297=)
c.1182G= (p.Met394=)
c.1081-27G= (n.1081-27G=)
4g.154569746G>TCA358515446FGBc.1191G>T (p.Met397Ile)
n.939+439G>T
c.534G>T (p.Met178Ile)
c.1014G>T (p.Met338Ile)
c.1059G>T (p.Met353Ile)
c.891G>T (p.Met297Ile)
c.1182G>T (p.Met394Ile)
c.1081-27G>T (n.1081-27G>T)
4g.154569747A>CCA358515450FGBc.1192A>C (p.Thr398Pro)
n.939+440A>C
c.535A>C (p.Thr179Pro)
c.1015A>C (p.Thr339Pro)
c.1060A>C (p.Thr354Pro)
c.892A>C (p.Thr298Pro)
c.1183A>C (p.Thr395Pro)
c.1081-26A>C (n.1081-26A>C)
4g.154569747A>GCA358515451FGBc.1192A>G (p.Thr398Ala)
n.939+440A>G
c.535A>G (p.Thr179Ala)
c.1015A>G (p.Thr339Ala)
c.1060A>G (p.Thr354Ala)
c.892A>G (p.Thr298Ala)
c.1183A>G (p.Thr395Ala)
c.1081-26A>G (n.1081-26A>G)
4g.154569747A>TCA358515448FGBc.1192A>T (p.Thr398Ser)
n.939+440A>T
c.535A>T (p.Thr179Ser)
c.1015A>T (p.Thr339Ser)
c.1060A>T (p.Thr354Ser)
c.892A>T (p.Thr298Ser)
c.1183A>T (p.Thr395Ser)
c.1081-26A>T (n.1081-26A>T)
4g.154569748C>ACA358515456FGBc.1193C>A (p.Thr398Asn)
n.939+441C>A
c.536C>A (p.Thr179Asn)
c.1016C>A (p.Thr339Asn)
c.1061C>A (p.Thr354Asn)
c.893C>A (p.Thr298Asn)
c.1184C>A (p.Thr395Asn)
c.1081-25C>A (n.1081-25C>A)
4g.154569748C>GCA358515453FGBc.1193C>G (p.Thr398Ser)
n.939+441C>G
c.536C>G (p.Thr179Ser)
c.1016C>G (p.Thr339Ser)
c.1061C>G (p.Thr354Ser)
c.893C>G (p.Thr298Ser)
c.1184C>G (p.Thr395Ser)
c.1081-25C>G (n.1081-25C>G)
4g.154569748C>TCA358515457FGBc.1193C>T (p.Thr398Ile)
n.939+441C>T
c.536C>T (p.Thr179Ile)
c.1016C>T (p.Thr339Ile)
c.1061C>T (p.Thr354Ile)
c.893C>T (p.Thr298Ile)
c.1184C>T (p.Thr395Ile)
c.1081-25C>T (n.1081-25C>T)
4g.154569749C>ACA442013583FGBc.1194C>A (p.Thr398=)
n.939+442C>A
c.537C>A (p.Thr179=)
c.1017C>A (p.Thr339=)
c.1062C>A (p.Thr354=)
c.894C>A (p.Thr298=)
c.1185C>A (p.Thr395=)
c.1081-24C>A (n.1081-24C>A)
 dbSNP gnomAD v4
4g.154569749C=CA1504935601FGBc.1194C= (p.Thr398=)
n.939+442C=
c.537C= (p.Thr179=)
c.1017C= (p.Thr339=)
c.1062C= (p.Thr354=)
c.894C= (p.Thr298=)
c.1185C= (p.Thr395=)
c.1081-24C= (n.1081-24C=)
4g.154569749C>GCA442013584FGBc.1194C>G (p.Thr398=)
n.939+442C>G
c.537C>G (p.Thr179=)
c.1017C>G (p.Thr339=)
c.1062C>G (p.Thr354=)
c.894C>G (p.Thr298=)
c.1185C>G (p.Thr395=)
c.1081-24C>G (n.1081-24C>G)
4g.154569749C>TCA442013585FGBc.1194C>T (p.Thr398=)
n.939+442C>T
c.537C>T (p.Thr179=)
c.1017C>T (p.Thr339=)
c.1062C>T (p.Thr354=)
c.894C>T (p.Thr298=)
c.1185C>T (p.Thr395=)
c.1081-24C>T (n.1081-24C>T)
4g.154569750A>CCA358515459FGBc.1195A>C (p.Ile399Leu)
n.939+443A>C
c.538A>C (p.Ile180Leu)
c.1018A>C (p.Ile340Leu)
c.1063A>C (p.Ile355Leu)
c.895A>C (p.Ile299Leu)
c.1186A>C (p.Ile396Leu)
c.1081-23A>C (n.1081-23A>C)
4g.154569750A>GCA358515460FGBc.1195A>G (p.Ile399Val)
n.939+443A>G
c.538A>G (p.Ile180Val)
c.1018A>G (p.Ile340Val)
c.1063A>G (p.Ile355Val)
c.895A>G (p.Ile299Val)
c.1186A>G (p.Ile396Val)
c.1081-23A>G (n.1081-23A>G)
4g.154569750A>TCA358515462FGBc.1195A>T (p.Ile399Phe)
n.939+443A>T
c.538A>T (p.Ile180Phe)
c.1018A>T (p.Ile340Phe)
c.1063A>T (p.Ile355Phe)
c.895A>T (p.Ile299Phe)
c.1186A>T (p.Ile396Phe)
c.1081-23A>T (n.1081-23A>T)
4g.154569751T>ACA358515464FGBc.1196T>A (p.Ile399Asn)
n.939+444T>A
c.539T>A (p.Ile180Asn)
c.1019T>A (p.Ile340Asn)
c.1064T>A (p.Ile355Asn)
c.896T>A (p.Ile299Asn)
c.1187T>A (p.Ile396Asn)
c.1081-22T>A (n.1081-22T>A)
4g.154569751T>CCA108751733FGBc.1196T>C (p.Ile399Thr)
n.939+444T>C
c.539T>C (p.Ile180Thr)
c.1019T>C (p.Ile340Thr)
c.1064T>C (p.Ile355Thr)
c.896T>C (p.Ile299Thr)
c.1187T>C (p.Ile396Thr)
c.1081-22T>C (n.1081-22T>C)
 dbSNP
4g.154569751T>GCA358515465FGBc.1196T>G (p.Ile399Ser)
n.939+444T>G
c.539T>G (p.Ile180Ser)
c.1019T>G (p.Ile340Ser)
c.1064T>G (p.Ile355Ser)
c.896T>G (p.Ile299Ser)
c.1187T>G (p.Ile396Ser)
c.1081-22T>G (n.1081-22T>G)
4g.154569751T=CA1504935603FGBc.1196T= (p.Ile399=)
n.939+444T=
c.539T= (p.Ile180=)
c.1019T= (p.Ile340=)
c.1064T= (p.Ile355=)
c.896T= (p.Ile299=)
c.1187T= (p.Ile396=)
c.1081-22T= (n.1081-22T=)
4g.154569752T>ACA442013586FGBc.1197T>A (p.Ile399=)
n.939+445T>A
c.540T>A (p.Ile180=)
c.1020T>A (p.Ile340=)
c.1065T>A (p.Ile355=)
c.897T>A (p.Ile299=)
c.1188T>A (p.Ile396=)
c.1081-21T>A (n.1081-21T>A)
4g.154569752T>CCA442013587FGBc.1197T>C (p.Ile399=)
n.939+445T>C
c.540T>C (p.Ile180=)
c.1020T>C (p.Ile340=)
c.1065T>C (p.Ile355=)
c.897T>C (p.Ile299=)
c.1188T>C (p.Ile396=)
c.1081-21T>C (n.1081-21T>C)
 dbSNP gnomAD v4
4g.154569752T>GCA358515467FGBc.1197T>G (p.Ile399Met)
n.939+445T>G
c.540T>G (p.Ile180Met)
c.1020T>G (p.Ile340Met)
c.1065T>G (p.Ile355Met)
c.897T>G (p.Ile299Met)
c.1188T>G (p.Ile396Met)
c.1081-21T>G (n.1081-21T>G)
4g.154569752T=CA1504935607FGBc.1197T= (p.Ile399=)
n.939+445T=
c.540T= (p.Ile180=)
c.1020T= (p.Ile340=)
c.1065T= (p.Ile355=)
c.897T= (p.Ile299=)
c.1188T= (p.Ile396=)
c.1081-21T= (n.1081-21T=)
4g.154569753C>ACA358515469FGBc.1198C>A (p.His400Asn)
n.939+446C>A
c.541C>A (p.His181Asn)
c.1021C>A (p.His341Asn)
c.1066C>A (p.His356Asn)
c.898C>A (p.His300Asn)
c.1189C>A (p.His397Asn)
c.1081-20C>A (n.1081-20C>A)
4g.154569753C>GCA358515471FGBc.1198C>G (p.His400Asp)
n.939+446C>G
c.541C>G (p.His181Asp)
c.1021C>G (p.His341Asp)
c.1066C>G (p.His356Asp)
c.898C>G (p.His300Asp)
c.1189C>G (p.His397Asp)
c.1081-20C>G (n.1081-20C>G)
4g.154569753C>TCA358515472FGBc.1198C>T (p.His400Tyr)
n.939+446C>T
c.541C>T (p.His181Tyr)
c.1021C>T (p.His341Tyr)
c.1066C>T (p.His356Tyr)
c.898C>T (p.His300Tyr)
c.1189C>T (p.His397Tyr)
c.1081-20C>T (n.1081-20C>T)
4g.154569754A=CA1504935610FGBc.1199A= (p.His400=)
n.939+447A=
c.542A= (p.His181=)
c.1022A= (p.His341=)
c.1067A= (p.His356=)
c.899A= (p.His300=)
c.1190A= (p.His397=)
c.1081-19A= (n.1081-19A=)
4g.154569754A>CCA3114739FGBc.1199A>C (p.His400Pro)
n.939+447A>C
c.542A>C (p.His181Pro)
c.1022A>C (p.His341Pro)
c.1067A>C (p.His356Pro)
c.899A>C (p.His300Pro)
c.1190A>C (p.His397Pro)
c.1081-19A>C (n.1081-19A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569754A>GCA358515475FGBc.1199A>G (p.His400Arg)
n.939+447A>G
c.542A>G (p.His181Arg)
c.1022A>G (p.His341Arg)
c.1067A>G (p.His356Arg)
c.899A>G (p.His300Arg)
c.1190A>G (p.His397Arg)
c.1081-19A>G (n.1081-19A>G)
4g.154569754A>TCA358515476FGBc.1199A>T (p.His400Leu)
n.939+447A>T
c.542A>T (p.His181Leu)
c.1022A>T (p.His341Leu)
c.1067A>T (p.His356Leu)
c.899A>T (p.His300Leu)
c.1190A>T (p.His397Leu)
c.1081-19A>T (n.1081-19A>T)
4g.154569755C>ACA358515480FGBc.1200C>A (p.His400Gln)
n.939+448C>A
c.543C>A (p.His181Gln)
c.1023C>A (p.His341Gln)
c.1068C>A (p.His356Gln)
c.900C>A (p.His300Gln)
c.1191C>A (p.His397Gln)
c.1081-18C>A (n.1081-18C>A)
4g.154569755C>GCA358515479FGBc.1200C>G (p.His400Gln)
n.939+448C>G
c.543C>G (p.His181Gln)
c.1023C>G (p.His341Gln)
c.1068C>G (p.His356Gln)
c.900C>G (p.His300Gln)
c.1191C>G (p.His397Gln)
c.1081-18C>G (n.1081-18C>G)
4g.154569755C>TCA442013589FGBc.1200C>T (p.His400=)
n.939+448C>T
c.543C>T (p.His181=)
c.1023C>T (p.His341=)
c.1068C>T (p.His356=)
c.900C>T (p.His300=)
c.1191C>T (p.His397=)
c.1081-18C>T (n.1081-18C>T)
4g.154569756A=CA1504935613FGBc.1201A= (p.Asn401=)
n.939+449A=
c.544A= (p.Asn182=)
c.1024A= (p.Asn342=)
c.1069A= (p.Asn357=)
c.901A= (p.Asn301=)
c.1192A= (p.Asn398=)
c.1081-17A= (n.1081-17A=)
4g.154569756A>CCA358515482FGBc.1201A>C (p.Asn401His)
n.939+449A>C
c.544A>C (p.Asn182His)
c.1024A>C (p.Asn342His)
c.1069A>C (p.Asn357His)
c.901A>C (p.Asn301His)
c.1192A>C (p.Asn398His)
c.1081-17A>C (n.1081-17A>C)
4g.154569756A>GCA358515483FGBc.1201A>G (p.Asn401Asp)
n.939+449A>G
c.544A>G (p.Asn182Asp)
c.1024A>G (p.Asn342Asp)
c.1069A>G (p.Asn357Asp)
c.901A>G (p.Asn301Asp)
c.1192A>G (p.Asn398Asp)
c.1081-17A>G (n.1081-17A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.154569756A>TCA358515485FGBc.1201A>T (p.Asn401Tyr)
n.939+449A>T
c.544A>T (p.Asn182Tyr)
c.1024A>T (p.Asn342Tyr)
c.1069A>T (p.Asn357Tyr)
c.901A>T (p.Asn301Tyr)
c.1192A>T (p.Asn398Tyr)
c.1081-17A>T (n.1081-17A>T)
4g.154569757A=CA1504935616FGBc.1202A= (p.Asn401=)
n.939+450A=
c.545A= (p.Asn182=)
c.1025A= (p.Asn342=)
c.1070A= (p.Asn357=)
c.902A= (p.Asn301=)
c.1193A= (p.Asn398=)
c.1081-16A= (n.1081-16A=)
4g.154569757A>CCA358515487FGBc.1202A>C (p.Asn401Thr)
n.939+450A>C
c.545A>C (p.Asn182Thr)
c.1025A>C (p.Asn342Thr)
c.1070A>C (p.Asn357Thr)
c.902A>C (p.Asn301Thr)
c.1193A>C (p.Asn398Thr)
c.1081-16A>C (n.1081-16A>C)
4g.154569757A>GCA358515488FGBc.1202A>G (p.Asn401Ser)
n.939+450A>G
c.545A>G (p.Asn182Ser)
c.1025A>G (p.Asn342Ser)
c.1070A>G (p.Asn357Ser)
c.902A>G (p.Asn301Ser)
c.1193A>G (p.Asn398Ser)
c.1081-16A>G (n.1081-16A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569757A>TCA358515490FGBc.1202A>T (p.Asn401Ile)
n.939+450A>T
c.545A>T (p.Asn182Ile)
c.1025A>T (p.Asn342Ile)
c.1070A>T (p.Asn357Ile)
c.902A>T (p.Asn301Ile)
c.1193A>T (p.Asn398Ile)
c.1081-16A>T (n.1081-16A>T)
4g.154569758C>ACA108751761FGBc.1203C>A (p.Asn401Lys)
n.939+451C>A
c.546C>A (p.Asn182Lys)
c.1026C>A (p.Asn342Lys)
c.1071C>A (p.Asn357Lys)
c.903C>A (p.Asn301Lys)
c.1194C>A (p.Asn398Lys)
c.1081-15C>A (n.1081-15C>A)
 dbSNP gnomAD v4
4g.154569758C=CA1504935619FGBc.1203C= (p.Asn401=)
n.939+451C=
c.546C= (p.Asn182=)
c.1026C= (p.Asn342=)
c.1071C= (p.Asn357=)
c.903C= (p.Asn301=)
c.1194C= (p.Asn398=)
c.1081-15C= (n.1081-15C=)
4g.154569758C>GCA358515492FGBc.1203C>G (p.Asn401Lys)
n.939+451C>G
c.546C>G (p.Asn182Lys)
c.1026C>G (p.Asn342Lys)
c.1071C>G (p.Asn357Lys)
c.903C>G (p.Asn301Lys)
c.1194C>G (p.Asn398Lys)
c.1081-15C>G (n.1081-15C>G)
4g.154569758C>TCA3114740FGBc.1203C>T (p.Asn401=)
n.939+451C>T
c.546C>T (p.Asn182=)
c.1026C>T (p.Asn342=)
c.1071C>T (p.Asn357=)
c.903C>T (p.Asn301=)
c.1194C>T (p.Asn398=)
c.1081-15C>T (n.1081-15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569759G>ACA3114741FGBc.1204G>A (p.Gly402Ser)
n.939+452G>A
c.547G>A (p.Gly183Ser)
c.1027G>A (p.Gly343Ser)
c.1072G>A (p.Gly358Ser)
c.904G>A (p.Gly302Ser)
c.1195G>A (p.Gly399Ser)
c.1081-14G>A (n.1081-14G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569759G>CCA358515495FGBc.1204G>C (p.Gly402Arg)
n.939+452G>C
c.547G>C (p.Gly183Arg)
c.1027G>C (p.Gly343Arg)
c.1072G>C (p.Gly358Arg)
c.904G>C (p.Gly302Arg)
c.1195G>C (p.Gly399Arg)
c.1081-14G>C (n.1081-14G>C)
4g.154569759G=CA1504935623FGBc.1204G= (p.Gly402=)
n.939+452G=
c.547G= (p.Gly183=)
c.1027G= (p.Gly343=)
c.1072G= (p.Gly358=)
c.904G= (p.Gly302=)
c.1195G= (p.Gly399=)
c.1081-14G= (n.1081-14G=)
4g.154569759G>TCA358515497FGBc.1204G>T (p.Gly402Cys)
n.939+452G>T
c.547G>T (p.Gly183Cys)
c.1027G>T (p.Gly343Cys)
c.1072G>T (p.Gly358Cys)
c.904G>T (p.Gly302Cys)
c.1195G>T (p.Gly399Cys)
c.1081-14G>T (n.1081-14G>T)
4g.154569759_154569760delinsTTCA645540053FGBc.1204_1205delinsTT (p.Gly402Phe)
n.939+452_939+453delinsTT
c.547_548delinsTT (p.Gly183Phe)
c.1027_1028delinsTT (p.Gly343Phe)
c.1072_1073delinsTT (p.Gly358Phe)
c.904_905delinsTT (p.Gly302Phe)
c.1195_1196delinsTT (p.Gly399Phe)
c.1081-14_1081-13delinsTT (n.1081-14_1081-13delinsTT)
 COSMIC
4g.154569760G>ACA358515502FGBc.1205G>A (p.Gly402Asp)
n.939+453G>A
c.548G>A (p.Gly183Asp)
c.1028G>A (p.Gly343Asp)
c.1073G>A (p.Gly358Asp)
c.905G>A (p.Gly302Asp)
c.1196G>A (p.Gly399Asp)
c.1081-13G>A (n.1081-13G>A)
4g.154569760G>CCA358515501FGBc.1205G>C (p.Gly402Ala)
n.939+453G>C
c.548G>C (p.Gly183Ala)
c.1028G>C (p.Gly343Ala)
c.1073G>C (p.Gly358Ala)
c.905G>C (p.Gly302Ala)
c.1196G>C (p.Gly399Ala)
c.1081-13G>C (n.1081-13G>C)
4g.154569760G=CA1504935625FGBc.1205G= (p.Gly402=)
n.939+453G=
c.548G= (p.Gly183=)
c.1028G= (p.Gly343=)
c.1073G= (p.Gly358=)
c.905G= (p.Gly302=)
c.1196G= (p.Gly399=)
c.1081-13G= (n.1081-13G=)
4g.154569760G>TCA358515500FGBc.1205G>T (p.Gly402Val)
n.939+453G>T
c.548G>T (p.Gly183Val)
c.1028G>T (p.Gly343Val)
c.1073G>T (p.Gly358Val)
c.905G>T (p.Gly302Val)
c.1196G>T (p.Gly399Val)
c.1081-13G>T (n.1081-13G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569761C>ACA442013605FGBc.1206C>A (p.Gly402=)
n.939+454C>A
c.549C>A (p.Gly183=)
c.1029C>A (p.Gly343=)
c.1074C>A (p.Gly358=)
c.906C>A (p.Gly302=)
c.1197C>A (p.Gly399=)
c.1081-12C>A (n.1081-12C>A)
4g.154569761C>GCA442013608FGBc.1206C>G (p.Gly402=)
n.939+454C>G
c.549C>G (p.Gly183=)
c.1029C>G (p.Gly343=)
c.1074C>G (p.Gly358=)
c.906C>G (p.Gly302=)
c.1197C>G (p.Gly399=)
c.1081-12C>G (n.1081-12C>G)
4g.154569761C>TCA442013610FGBc.1206C>T (p.Gly402=)
n.939+454C>T
c.549C>T (p.Gly183=)
c.1029C>T (p.Gly343=)
c.1074C>T (p.Gly358=)
c.906C>T (p.Gly302=)
c.1197C>T (p.Gly399=)
c.1081-12C>T (n.1081-12C>T)
4g.154569762A=CA1504935628FGBc.1207A= (p.Met403=)
n.939+455A=
c.550A= (p.Met184=)
c.1030A= (p.Met344=)
c.1075A= (p.Met359=)
c.907A= (p.Met303=)
c.1198A= (p.Met400=)
c.1081-11A= (n.1081-11A=)
4g.154569762A>CCA358515503FGBc.1207A>C (p.Met403Leu)
n.939+455A>C
c.550A>C (p.Met184Leu)
c.1030A>C (p.Met344Leu)
c.1075A>C (p.Met359Leu)
c.907A>C (p.Met303Leu)
c.1198A>C (p.Met400Leu)
c.1081-11A>C (n.1081-11A>C)
 dbSNP gnomAD v4
4g.154569762A>GCA358515505FGBc.1207A>G (p.Met403Val)
n.939+455A>G
c.550A>G (p.Met184Val)
c.1030A>G (p.Met344Val)
c.1075A>G (p.Met359Val)
c.907A>G (p.Met303Val)
c.1198A>G (p.Met400Val)
c.1081-11A>G (n.1081-11A>G)
 dbSNP
4g.154569762A>TCA358515507FGBc.1207A>T (p.Met403Leu)
n.939+455A>T
c.550A>T (p.Met184Leu)
c.1030A>T (p.Met344Leu)
c.1075A>T (p.Met359Leu)
c.907A>T (p.Met303Leu)
c.1198A>T (p.Met400Leu)
c.1081-11A>T (n.1081-11A>T)
 dbSNP
4g.154569763T>ACA358515508FGBc.1208T>A (p.Met403Lys)
n.939+456T>A
c.551T>A (p.Met184Lys)
c.1031T>A (p.Met344Lys)
c.1076T>A (p.Met359Lys)
c.908T>A (p.Met303Lys)
c.1199T>A (p.Met400Lys)
c.1081-10T>A (n.1081-10T>A)
4g.154569763T>CCA358515510FGBc.1208T>C (p.Met403Thr)
n.939+456T>C
c.551T>C (p.Met184Thr)
c.1031T>C (p.Met344Thr)
c.1076T>C (p.Met359Thr)
c.908T>C (p.Met303Thr)
c.1199T>C (p.Met400Thr)
c.1081-10T>C (n.1081-10T>C)
4g.154569763T>GCA358515512FGBc.1208T>G (p.Met403Arg)
n.939+456T>G
c.551T>G (p.Met184Arg)
c.1031T>G (p.Met344Arg)
c.1076T>G (p.Met359Arg)
c.908T>G (p.Met303Arg)
c.1199T>G (p.Met400Arg)
c.1081-10T>G (n.1081-10T>G)
4g.154569764G>ACA358515513FGBc.1209G>A (p.Met403Ile)
n.939+457G>A
c.552G>A (p.Met184Ile)
c.1032G>A (p.Met344Ile)
c.1077G>A (p.Met359Ile)
c.909G>A (p.Met303Ile)
c.1200G>A (p.Met400Ile)
c.1081-9G>A (n.1081-9G>A)
4g.154569764G>CCA358515514FGBc.1209G>C (p.Met403Ile)
n.939+457G>C
c.552G>C (p.Met184Ile)
c.1032G>C (p.Met344Ile)
c.1077G>C (p.Met359Ile)
c.909G>C (p.Met303Ile)
c.1200G>C (p.Met400Ile)
c.1081-9G>C (n.1081-9G>C)
4g.154569764G>TCA358515516FGBc.1209G>T (p.Met403Ile)
n.939+457G>T
c.552G>T (p.Met184Ile)
c.1032G>T (p.Met344Ile)
c.1077G>T (p.Met359Ile)
c.909G>T (p.Met303Ile)
c.1200G>T (p.Met400Ile)
c.1081-9G>T (n.1081-9G>T)
4g.154569765T>ACA358515518FGBc.1210T>A (p.Phe404Ile)
n.939+458T>A
c.553T>A (p.Phe185Ile)
c.1033T>A (p.Phe345Ile)
c.1078T>A (p.Phe360Ile)
c.910T>A (p.Phe304Ile)
c.1201T>A (p.Phe401Ile)
c.1081-8T>A (n.1081-8T>A)
4g.154569765T>CCA358515519FGBc.1210T>C (p.Phe404Leu)
n.939+458T>C
c.553T>C (p.Phe185Leu)
c.1033T>C (p.Phe345Leu)
c.1078T>C (p.Phe360Leu)
c.910T>C (p.Phe304Leu)
c.1201T>C (p.Phe401Leu)
c.1081-8T>C (n.1081-8T>C)
 dbSNP gnomAD v4
4g.154569765T>GCA358515520FGBc.1210T>G (p.Phe404Val)
n.939+458T>G
c.553T>G (p.Phe185Val)
c.1033T>G (p.Phe345Val)
c.1078T>G (p.Phe360Val)
c.910T>G (p.Phe304Val)
c.1201T>G (p.Phe401Val)
c.1081-8T>G (n.1081-8T>G)
4g.154569765T=CA1504935631FGBc.1210T= (p.Phe404=)
n.939+458T=
c.553T= (p.Phe185=)
c.1033T= (p.Phe345=)
c.1078T= (p.Phe360=)
c.910T= (p.Phe304=)
c.1201T= (p.Phe401=)
c.1081-8T= (n.1081-8T=)
4g.154569766T>ACA358515525FGBc.1211T>A (p.Phe404Tyr)
n.939+459T>A
c.554T>A (p.Phe185Tyr)
c.1034T>A (p.Phe345Tyr)
c.1079T>A (p.Phe360Tyr)
c.911T>A (p.Phe304Tyr)
c.1202T>A (p.Phe401Tyr)
c.1081-7T>A (n.1081-7T>A)
 dbSNP COSMIC
4g.154569766T>CCA358515526FGBc.1211T>C (p.Phe404Ser)
n.939+459T>C
c.554T>C (p.Phe185Ser)
c.1034T>C (p.Phe345Ser)
c.1079T>C (p.Phe360Ser)
c.911T>C (p.Phe304Ser)
c.1202T>C (p.Phe401Ser)
c.1081-7T>C (n.1081-7T>C)
4g.154569766T>GCA358515523FGBc.1211T>G (p.Phe404Cys)
n.939+459T>G
c.554T>G (p.Phe185Cys)
c.1034T>G (p.Phe345Cys)
c.1079T>G (p.Phe360Cys)
c.911T>G (p.Phe304Cys)
c.1202T>G (p.Phe401Cys)
c.1081-7T>G (n.1081-7T>G)
4g.154569766T=CA1504935633FGBc.1211T= (p.Phe404=)
n.939+459T=
c.554T= (p.Phe185=)
c.1034T= (p.Phe345=)
c.1079T= (p.Phe360=)
c.911T= (p.Phe304=)
c.1202T= (p.Phe401=)
c.1081-7T= (n.1081-7T=)
4g.154569767C>ACA358515527FGBc.1212C>A (p.Phe404Leu)
n.939+460C>A
c.555C>A (p.Phe185Leu)
c.1035C>A (p.Phe345Leu)
c.1080C>A (p.Phe360Leu)
c.912C>A (p.Phe304Leu)
c.1203C>A (p.Phe401Leu)
c.1081-6C>A (n.1081-6C>A)
4g.154569767C>GCA358515529FGBc.1212C>G (p.Phe404Leu)
n.939+460C>G
c.555C>G (p.Phe185Leu)
c.1035C>G (p.Phe345Leu)
c.1080C>G (p.Phe360Leu)
c.912C>G (p.Phe304Leu)
c.1203C>G (p.Phe401Leu)
c.1081-6C>G (n.1081-6C>G)
4g.154569767C>TCA442013627FGBc.1212C>T (p.Phe404=)
n.939+460C>T
c.555C>T (p.Phe185=)
c.1035C>T (p.Phe345=)
c.1080C>T (p.Phe360=)
c.912C>T (p.Phe304=)
c.1203C>T (p.Phe401=)
c.1081-6C>T (n.1081-6C>T)
 COSMIC
4g.154569768T>ACA358515530FGBc.1213T>A (p.Phe405Ile)
n.939+461T>A
c.556T>A (p.Phe186Ile)
c.1036T>A (p.Phe346Ile)
c.1081T>A (p.Phe361Ile)
c.913T>A (p.Phe305Ile)
c.1204T>A (p.Phe402Ile)
c.1081-5T>A (n.1081-5T>A)
4g.154569768T>CCA358515532FGBc.1213T>C (p.Phe405Leu)
n.939+461T>C
c.556T>C (p.Phe186Leu)
c.1036T>C (p.Phe346Leu)
c.1081T>C (p.Phe361Leu)
c.913T>C (p.Phe305Leu)
c.1204T>C (p.Phe402Leu)
c.1081-5T>C (n.1081-5T>C)
4g.154569768T>GCA358515533FGBc.1213T>G (p.Phe405Val)
n.939+461T>G
c.556T>G (p.Phe186Val)
c.1036T>G (p.Phe346Val)
c.1081T>G (p.Phe361Val)
c.913T>G (p.Phe305Val)
c.1204T>G (p.Phe402Val)
c.1081-5T>G (n.1081-5T>G)
4g.154569769T>ACA358515539FGBc.1214T>A (p.Phe405Tyr)
n.939+462T>A
c.557T>A (p.Phe186Tyr)
c.1037T>A (p.Phe346Tyr)
c.1082T>A (p.Phe361Tyr)
c.914T>A (p.Phe305Tyr)
c.1205T>A (p.Phe402Tyr)
c.1081-4T>A (n.1081-4T>A)
4g.154569769T>CCA358515535FGBc.1214T>C (p.Phe405Ser)
n.939+462T>C
c.557T>C (p.Phe186Ser)
c.1037T>C (p.Phe346Ser)
c.1082T>C (p.Phe361Ser)
c.914T>C (p.Phe305Ser)
c.1205T>C (p.Phe402Ser)
c.1081-4T>C (n.1081-4T>C)
4g.154569769T>GCA358515537FGBc.1214T>G (p.Phe405Cys)
n.939+462T>G
c.557T>G (p.Phe186Cys)
c.1037T>G (p.Phe346Cys)
c.1082T>G (p.Phe361Cys)
c.914T>G (p.Phe305Cys)
c.1205T>G (p.Phe402Cys)
c.1081-4T>G (n.1081-4T>G)
4g.154569770C>ACA358515540FGBc.1215C>A (p.Phe405Leu)
n.939+463C>A
c.558C>A (p.Phe186Leu)
c.1038C>A (p.Phe346Leu)
c.1083C>A (p.Phe361Leu)
c.915C>A (p.Phe305Leu)
c.1206C>A (p.Phe402Leu)
c.1081-3C>A (n.1081-3C>A)
4g.154569770C>GCA358515542FGBc.1215C>G (p.Phe405Leu)
n.939+463C>G
c.558C>G (p.Phe186Leu)
c.1038C>G (p.Phe346Leu)
c.1083C>G (p.Phe361Leu)
c.915C>G (p.Phe305Leu)
c.1206C>G (p.Phe402Leu)
c.1081-3C>G (n.1081-3C>G)
4g.154569770C>TCA442013634FGBc.1215C>T (p.Phe405=)
n.939+463C>T
c.558C>T (p.Phe186=)
c.1038C>T (p.Phe346=)
c.1083C>T (p.Phe361=)
c.915C>T (p.Phe305=)
c.1206C>T (p.Phe402=)
c.1081-3C>T (n.1081-3C>T)
4g.154569771A>CCA358515544FGBc.1216A>C (p.Ser406Arg)
n.939+464A>C
c.559A>C (p.Ser187Arg)
c.1039A>C (p.Ser347Arg)
c.1084A>C (p.Ser362Arg)
c.916A>C (p.Ser306Arg)
c.1207A>C (p.Ser403Arg)
c.1081-2A>C (n.1081-2A>C)
4g.154569771A>GCA358515546FGBc.1216A>G (p.Ser406Gly)
n.939+464A>G
c.559A>G (p.Ser187Gly)
c.1039A>G (p.Ser347Gly)
c.1084A>G (p.Ser362Gly)
c.916A>G (p.Ser306Gly)
c.1207A>G (p.Ser403Gly)
c.1081-2A>G (n.1081-2A>G)
4g.154569771A>TCA358515547FGBc.1216A>T (p.Ser406Cys)
n.939+464A>T
c.559A>T (p.Ser187Cys)
c.1039A>T (p.Ser347Cys)
c.1084A>T (p.Ser362Cys)
c.916A>T (p.Ser306Cys)
c.1207A>T (p.Ser403Cys)
c.1081-2A>T (n.1081-2A>T)
4g.154569772G>ACA358515552FGBc.1217G>A (p.Ser406Asn)
n.939+465G>A
c.560G>A (p.Ser187Asn)
c.1040G>A (p.Ser347Asn)
c.1085G>A (p.Ser362Asn)
c.917G>A (p.Ser306Asn)
c.1208G>A (p.Ser403Asn)
c.1081-1G>A (n.1081-1G>A)
4g.154569772G>CCA358515551FGBc.1217G>C (p.Ser406Thr)
n.939+465G>C
c.560G>C (p.Ser187Thr)
c.1040G>C (p.Ser347Thr)
c.1085G>C (p.Ser362Thr)
c.917G>C (p.Ser306Thr)
c.1208G>C (p.Ser403Thr)
c.1081-1G>C (n.1081-1G>C)
4g.154569772G>TCA358515549FGBc.1217G>T (p.Ser406Ile)
n.939+465G>T
c.560G>T (p.Ser187Ile)
c.1040G>T (p.Ser347Ile)
c.1085G>T (p.Ser362Ile)
c.917G>T (p.Ser306Ile)
c.1208G>T (p.Ser403Ile)
c.1081-1G>T (n.1081-1G>T)
 COSMIC
4g.154569773C>ACA358515554FGBc.1218C>A (p.Ser406Arg)
n.939+466C>A
c.561C>A (p.Ser187Arg)
c.1041C>A (p.Ser347Arg)
c.1086C>A (p.Ser362Arg)
c.918C>A (p.Ser306Arg)
c.1209C>A (p.Ser403Arg)
c.1081C>A (p.His361Asn)
4g.154569773C>GCA358515556FGBc.1218C>G (p.Ser406Arg)
n.939+466C>G
c.561C>G (p.Ser187Arg)
c.1041C>G (p.Ser347Arg)
c.1086C>G (p.Ser362Arg)
c.918C>G (p.Ser306Arg)
c.1209C>G (p.Ser403Arg)
c.1081C>G (p.His361Asp)
4g.154569773C>TCA442013637FGBc.1218C>T (p.Ser406=)
n.939+466C>T
c.561C>T (p.Ser187=)
c.1041C>T (p.Ser347=)
c.1086C>T (p.Ser362=)
c.918C>T (p.Ser306=)
c.1209C>T (p.Ser403=)
c.1081C>T (p.His361Tyr)
4g.154569773_154569774delinsCACA1504935635FGBc.1218_1219delinsCA (p.Ser406=)
n.939+466_939+467delinsCA
c.561_562delinsCA (p.Ser187=)
c.1041_1042delinsCA (p.Ser347=)
c.1086_1087delinsCA (p.Ser362=)
c.918_919delinsCA (p.Ser306=)
c.1209_1210delinsCA (p.Ser403=)
c.1081_1082delinsCA (p.His361=)
4g.154569774delCA1069731987FGBc.1219del (p.Thr407ArgfsTer10)
n.939+467del
c.562del (p.Thr188ArgfsTer10)
c.1042del (p.Thr348ArgfsTer10)
c.1087del (p.Thr363ArgfsTer10)
c.1219del (p.Thr407ArgfsTer29)
c.919del (p.Thr307ArgfsTer10)
c.1210del (p.Thr404ArgfsTer10)
c.1082del (p.His361ProfsTer?)
c.1219del (p.Thr407ArgfsTer2)
 dbSNP gnomAD v3 gnomAD v4
4g.154569774A>CCA358515558FGBc.1219A>C (p.Thr407Pro)
n.939+467A>C
c.562A>C (p.Thr188Pro)
c.1042A>C (p.Thr348Pro)
c.1087A>C (p.Thr363Pro)
c.919A>C (p.Thr307Pro)
c.1210A>C (p.Thr404Pro)
c.1082A>C (p.His361Pro)
4g.154569774A>GCA358515559FGBc.1219A>G (p.Thr407Ala)
n.939+467A>G
c.562A>G (p.Thr188Ala)
c.1042A>G (p.Thr348Ala)
c.1087A>G (p.Thr363Ala)
c.919A>G (p.Thr307Ala)
c.1210A>G (p.Thr404Ala)
c.1082A>G (p.His361Arg)
4g.154569774A>TCA358515561FGBc.1219A>T (p.Thr407Ser)
n.939+467A>T
c.562A>T (p.Thr188Ser)
c.1042A>T (p.Thr348Ser)
c.1087A>T (p.Thr363Ser)
c.919A>T (p.Thr307Ser)
c.1210A>T (p.Thr404Ser)
c.1082A>T (p.His361Leu)
4g.154569775C>ACA358515563FGBc.1220C>A (p.Thr407Lys)
n.939+468C>A
c.563C>A (p.Thr188Lys)
c.1043C>A (p.Thr348Lys)
c.1088C>A (p.Thr363Lys)
c.920C>A (p.Thr307Lys)
c.1211C>A (p.Thr404Lys)
c.1083C>A (p.His361Gln)
 gnomAD v4
4g.154569775C=CA1504935637FGBc.1220C= (p.Thr407=)
n.939+468C=
c.563C= (p.Thr188=)
c.1043C= (p.Thr348=)
c.1088C= (p.Thr363=)
c.920C= (p.Thr307=)
c.1211C= (p.Thr404=)
c.1083C= (p.His361=)
4g.154569775C>GCA358515565FGBc.1220C>G (p.Thr407Arg)
n.939+468C>G
c.563C>G (p.Thr188Arg)
c.1043C>G (p.Thr348Arg)
c.1088C>G (p.Thr363Arg)
c.920C>G (p.Thr307Arg)
c.1211C>G (p.Thr404Arg)
c.1083C>G (p.His361Gln)
4g.154569775C>TCA358515566FGBc.1220C>T (p.Thr407Met)
n.939+468C>T
c.563C>T (p.Thr188Met)
c.1043C>T (p.Thr348Met)
c.1088C>T (p.Thr363Met)
c.920C>T (p.Thr307Met)
c.1211C>T (p.Thr404Met)
c.1083C>T (p.His361=)
 dbSNP gnomAD v4 COSMIC
4g.154569776G>ACA3114742FGBc.1221G>A (p.Thr407=)
n.939+469G>A
c.564G>A (p.Thr188=)
c.1044G>A (p.Thr348=)
c.1089G>A (p.Thr363=)
c.921G>A (p.Thr307=)
c.1212G>A (p.Thr404=)
c.1084G>A (p.Val362Ile)
c.1220+1G>A (n.1220+1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569776G>CCA442013648FGBc.1221G>C (p.Thr407=)
n.939+469G>C
c.564G>C (p.Thr188=)
c.1044G>C (p.Thr348=)
c.1089G>C (p.Thr363=)
c.921G>C (p.Thr307=)
c.1212G>C (p.Thr404=)
c.1084G>C (p.Val362Leu)
c.1220+1G>C (n.1220+1G>C)
 dbSNP gnomAD v4
4g.154569776G=CA1504935639FGBc.1221G= (p.Thr407=)
n.939+469G=
c.564G= (p.Thr188=)
c.1044G= (p.Thr348=)
c.1089G= (p.Thr363=)
c.921G= (p.Thr307=)
c.1212G= (p.Thr404=)
c.1084G= (p.Val362=)
c.1220+1G= (n.1220+1G=)
4g.154569776G>TCA442013650FGBc.1221G>T (p.Thr407=)
n.939+469G>T
c.564G>T (p.Thr188=)
c.1044G>T (p.Thr348=)
c.1089G>T (p.Thr363=)
c.921G>T (p.Thr307=)
c.1212G>T (p.Thr404=)
c.1084G>T (p.Val362Leu)
c.1220+1G>T (n.1220+1G>T)
4g.154569777T>ACA358515569FGBc.1222T>A (p.Tyr408Asn)
n.939+470T>A
c.565T>A (p.Tyr189Asn)
c.1045T>A (p.Tyr349Asn)
c.1090T>A (p.Tyr364Asn)
c.922T>A (p.Tyr308Asn)
c.1213T>A (p.Tyr405Asn)
c.1085T>A (p.Val362Glu)
c.1220+2T>A (n.1220+2T>A)
 dbSNP gnomAD v4
4g.154569777T>CCA358515571FGBc.1222T>C (p.Tyr408His)
n.939+470T>C
c.565T>C (p.Tyr189His)
c.1045T>C (p.Tyr349His)
c.1090T>C (p.Tyr364His)
c.922T>C (p.Tyr308His)
c.1213T>C (p.Tyr405His)
c.1085T>C (p.Val362Ala)
c.1220+2T>C (n.1220+2T>C)
 gnomAD v4
4g.154569777T>GCA358515572FGBc.1222T>G (p.Tyr408Asp)
n.939+470T>G
c.565T>G (p.Tyr189Asp)
c.1045T>G (p.Tyr349Asp)
c.1090T>G (p.Tyr364Asp)
c.922T>G (p.Tyr308Asp)
c.1213T>G (p.Tyr405Asp)
c.1085T>G (p.Val362Gly)
c.1220+2T>G (n.1220+2T>G)
4g.154569777T=CA1504935640FGBc.1222T= (p.Tyr408=)
n.939+470T=
c.565T= (p.Tyr189=)
c.1045T= (p.Tyr349=)
c.1090T= (p.Tyr364=)
c.922T= (p.Tyr308=)
c.1213T= (p.Tyr405=)
c.1085T= (p.Val362=)
c.1220+2T= (n.1220+2T=)
4g.154569778A>CCA358515574FGBc.1223A>C (p.Tyr408Ser)
n.939+471A>C
c.566A>C (p.Tyr189Ser)
c.1046A>C (p.Tyr349Ser)
c.1091A>C (p.Tyr364Ser)
c.923A>C (p.Tyr308Ser)
c.1214A>C (p.Tyr405Ser)
c.1086A>C (p.Val362=)
c.1220+3A>C (n.1220+3A>C)
4g.154569778A>GCA358515576FGBc.1223A>G (p.Tyr408Cys)
n.939+471A>G
c.566A>G (p.Tyr189Cys)
c.1046A>G (p.Tyr349Cys)
c.1091A>G (p.Tyr364Cys)
c.923A>G (p.Tyr308Cys)
c.1214A>G (p.Tyr405Cys)
c.1086A>G (p.Val362=)
c.1220+3A>G (n.1220+3A>G)
 gnomAD v4
4g.154569778A>TCA358515577FGBc.1223A>T (p.Tyr408Phe)
n.939+471A>T
c.566A>T (p.Tyr189Phe)
c.1046A>T (p.Tyr349Phe)
c.1091A>T (p.Tyr364Phe)
c.923A>T (p.Tyr308Phe)
c.1214A>T (p.Tyr405Phe)
c.1086A>T (p.Val362=)
c.1220+3A>T (n.1220+3A>T)
4g.154569779T>ACA358515581FGBc.1224T>A (p.Tyr408Ter)
n.939+472T>A
c.567T>A (p.Tyr189Ter)
c.1047T>A (p.Tyr349Ter)
c.1092T>A (p.Tyr364Ter)
c.924T>A (p.Tyr308Ter)
c.1215T>A (p.Tyr405Ter)
c.1087T>A (p.Ter363Arg)
c.1220+4T>A (n.1220+4T>A)
4g.154569779T>CCA442013657FGBc.1224T>C (p.Tyr408=)
n.939+472T>C
c.567T>C (p.Tyr189=)
c.1047T>C (p.Tyr349=)
c.1092T>C (p.Tyr364=)
c.924T>C (p.Tyr308=)
c.1215T>C (p.Tyr405=)
c.1087T>C (p.Ter363Arg)
c.1220+4T>C (n.1220+4T>C)
 dbSNP
4g.154569779T>GCA358515579FGBc.1224T>G (p.Tyr408Ter)
n.939+472T>G
c.567T>G (p.Tyr189Ter)
c.1047T>G (p.Tyr349Ter)
c.1092T>G (p.Tyr364Ter)
c.924T>G (p.Tyr308Ter)
c.1215T>G (p.Tyr405Ter)
c.1087T>G (p.Ter363Gly)
c.1220+4T>G (n.1220+4T>G)
4g.154569779T=CA1504935641FGBc.1224T= (p.Tyr408=)
n.939+472T=
c.567T= (p.Tyr189=)
c.1047T= (p.Tyr349=)
c.1092T= (p.Tyr364=)
c.924T= (p.Tyr308=)
c.1215T= (p.Tyr405=)
c.1087T= (p.Ter363=)
c.1220+4T= (n.1220+4T=)
4g.154569780G>ACA358515582FGBc.1225G>A (p.Asp409Asn)
n.939+473G>A
c.568G>A (p.Asp190Asn)
c.1048G>A (p.Asp350Asn)
c.1093G>A (p.Asp365Asn)
c.925G>A (p.Asp309Asn)
c.1216G>A (p.Asp406Asn)
c.1088G>A (p.Ter363=)
c.1220+5G>A (n.1220+5G>A)
 gnomAD v4
4g.154569780G>CCA358515583FGBc.1225G>C (p.Asp409His)
n.939+473G>C
c.568G>C (p.Asp190His)
c.1048G>C (p.Asp350His)
c.1093G>C (p.Asp365His)
c.925G>C (p.Asp309His)
c.1216G>C (p.Asp406His)
c.1088G>C (p.Ter363Ser)
c.1220+5G>C (n.1220+5G>C)
4g.154569780G>TCA358515584FGBc.1225G>T (p.Asp409Tyr)
n.939+473G>T
c.568G>T (p.Asp190Tyr)
c.1048G>T (p.Asp350Tyr)
c.1093G>T (p.Asp365Tyr)
c.925G>T (p.Asp309Tyr)
c.1216G>T (p.Asp406Tyr)
c.1088G>T (p.Ter363Leu)
c.1220+5G>T (n.1220+5G>T)
4g.154569781A=CA1504935643FGBc.1226A= (p.Asp409=)
n.939+474A=
c.569A= (p.Asp190=)
c.1049A= (p.Asp350=)
c.1094A= (p.Asp365=)
c.926A= (p.Asp309=)
c.1217A= (p.Asp406=)
c.1089A= (p.Ter363=)
c.1220+6A= (n.1220+6A=)
4g.154569781A>CCA358515586FGBc.1226A>C (p.Asp409Ala)
n.939+474A>C
c.569A>C (p.Asp190Ala)
c.1049A>C (p.Asp350Ala)
c.1094A>C (p.Asp365Ala)
c.926A>C (p.Asp309Ala)
c.1217A>C (p.Asp406Ala)
c.1089A>C (p.Ter363Cys)
c.1220+6A>C (n.1220+6A>C)
4g.154569781A>GCA358515588FGBc.1226A>G (p.Asp409Gly)
n.939+474A>G
c.569A>G (p.Asp190Gly)
c.1049A>G (p.Asp350Gly)
c.1094A>G (p.Asp365Gly)
c.926A>G (p.Asp309Gly)
c.1217A>G (p.Asp406Gly)
c.1089A>G (p.Ter363Trp)
c.1220+6A>G (n.1220+6A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569781A>TCA358515590FGBc.1226A>T (p.Asp409Val)
n.939+474A>T
c.569A>T (p.Asp190Val)
c.1049A>T (p.Asp350Val)
c.1094A>T (p.Asp365Val)
c.926A>T (p.Asp309Val)
c.1217A>T (p.Asp406Val)
c.1089A>T (p.Ter363Cys)
c.1220+6A>T (n.1220+6A>T)
 gnomAD v4
4g.154569782C>ACA358515592FGBc.1227C>A (p.Asp409Glu)
n.939+475C>A
c.570C>A (p.Asp190Glu)
c.1050C>A (p.Asp350Glu)
c.1095C>A (p.Asp365Glu)
c.927C>A (p.Asp309Glu)
c.1218C>A (p.Asp406Glu)
c.*1C>A (n.*1C>A)
c.1220+7C>A (n.1220+7C>A)
4g.154569782C=CA1504935645FGBc.1227C= (p.Asp409=)
n.939+475C=
c.570C= (p.Asp190=)
c.1050C= (p.Asp350=)
c.1095C= (p.Asp365=)
c.927C= (p.Asp309=)
c.1218C= (p.Asp406=)
c.*1C= (n.*1C=)
c.1220+7C= (n.1220+7C=)
4g.154569782C>GCA358515593FGBc.1227C>G (p.Asp409Glu)
n.939+475C>G
c.570C>G (p.Asp190Glu)
c.1050C>G (p.Asp350Glu)
c.1095C>G (p.Asp365Glu)
c.927C>G (p.Asp309Glu)
c.1218C>G (p.Asp406Glu)
c.*1C>G (n.*1C>G)
c.1220+7C>G (n.1220+7C>G)
4g.154569782C>TCA108751773FGBc.1227C>T (p.Asp409=)
n.939+475C>T
c.570C>T (p.Asp190=)
c.1050C>T (p.Asp350=)
c.1095C>T (p.Asp365=)
c.927C>T (p.Asp309=)
c.1218C>T (p.Asp406=)
c.*1C>T (n.*1C>T)
c.1220+7C>T (n.1220+7C>T)
 dbSNP
4g.154569783A>CCA442013663FGBc.1228A>C (p.Arg410=)
n.939+476A>C
c.571A>C (p.Arg191=)
c.1051A>C (p.Arg351=)
c.1096A>C (p.Arg366=)
c.928A>C (p.Arg310=)
c.1219A>C (p.Arg407=)
c.*2A>C (n.*2A>C)
c.1220+8A>C (n.1220+8A>C)
4g.154569783A>GCA358515594FGBc.1228A>G (p.Arg410Gly)
n.939+476A>G
c.571A>G (p.Arg191Gly)
c.1051A>G (p.Arg351Gly)
c.1096A>G (p.Arg366Gly)
c.928A>G (p.Arg310Gly)
c.1219A>G (p.Arg407Gly)
c.*2A>G (n.*2A>G)
c.1220+8A>G (n.1220+8A>G)
4g.154569783A>TCA358515596FGBc.1228A>T (p.Arg410Ter)
n.939+476A>T
c.571A>T (p.Arg191Ter)
c.1051A>T (p.Arg351Ter)
c.1096A>T (p.Arg366Ter)
c.928A>T (p.Arg310Ter)
c.1219A>T (p.Arg407Ter)
c.*2A>T (n.*2A>T)
c.1220+8A>T (n.1220+8A>T)
4g.154569786_154569787dupCA1504935647FGBc.1231_1232dup (p.Asp411GlufsTer7)
n.939+479_939+480dup
c.574_575dup (p.Asp192GlufsTer7)
c.1054_1055dup (p.Asp352GlufsTer7)
c.1099_1100dup (p.Asp367GlufsTer7)
c.1231_1232dup (p.Asp411GlufsTer26)
c.931_932dup (p.Asp311GlufsTer7)
c.1222_1223dup (p.Asp408GlufsTer7)
c.*5_*6dup (n.*5_*6dup)
c.1220+11_1220+12dup (n.1220+11_1220+12dup)
 dbSNP
4g.154569786_154569787delCA2672441663FGBc.1231_1232del (p.Asp411GlnfsTer2)
n.939+479_939+480del
c.574_575del (p.Asp192GlnfsTer2)
c.1054_1055del (p.Asp352GlnfsTer2)
c.1099_1100del (p.Asp367GlnfsTer2)
c.931_932del (p.Asp311GlnfsTer2)
c.1222_1223del (p.Asp408GlnfsTer2)
c.*5_*6del (n.*5_*6del)
c.1220+11_1220+12del (n.1220+11_1220+12del)
 gnomAD v4
4g.154569784G>ACA358515599FGBc.1229G>A (p.Arg410Lys)
n.939+477G>A
c.572G>A (p.Arg191Lys)
c.1052G>A (p.Arg351Lys)
c.1097G>A (p.Arg366Lys)
c.929G>A (p.Arg310Lys)
c.1220G>A (p.Arg407Lys)
c.*3G>A (n.*3G>A)
c.1220+9G>A (n.1220+9G>A)
4g.154569784G>CCA358515600FGBc.1229G>C (p.Arg410Thr)
n.939+477G>C
c.572G>C (p.Arg191Thr)
c.1052G>C (p.Arg351Thr)
c.1097G>C (p.Arg366Thr)
c.929G>C (p.Arg310Thr)
c.1220G>C (p.Arg407Thr)
c.*3G>C (n.*3G>C)
c.1220+9G>C (n.1220+9G>C)
4g.154569784G=CA1504935649FGBc.1229G= (p.Arg410=)
n.939+477G=
c.572G= (p.Arg191=)
c.1052G= (p.Arg351=)
c.1097G= (p.Arg366=)
c.929G= (p.Arg310=)
c.1220G= (p.Arg407=)
c.*3G= (n.*3G=)
c.1220+9G= (n.1220+9G=)
4g.154569784G>TCA358515602FGBc.1229G>T (p.Arg410Ile)
n.939+477G>T
c.572G>T (p.Arg191Ile)
c.1052G>T (p.Arg351Ile)
c.1097G>T (p.Arg366Ile)
c.929G>T (p.Arg310Ile)
c.1220G>T (p.Arg407Ile)
c.*3G>T (n.*3G>T)
c.1220+9G>T (n.1220+9G>T)
 dbSNP
4g.154569785A=CA1504935650FGBc.1230A= (p.Arg410=)
n.939+478A=
c.573A= (p.Arg191=)
c.1053A= (p.Arg351=)
c.1098A= (p.Arg366=)
c.930A= (p.Arg310=)
c.1221A= (p.Arg407=)
c.*4A= (n.*4A=)
c.1220+10A= (n.1220+10A=)
4g.154569785A>CCA358515604FGBc.1230A>C (p.Arg410Ser)
n.939+478A>C
c.573A>C (p.Arg191Ser)
c.1053A>C (p.Arg351Ser)
c.1098A>C (p.Arg366Ser)
c.930A>C (p.Arg310Ser)
c.1221A>C (p.Arg407Ser)
c.*4A>C (n.*4A>C)
c.1220+10A>C (n.1220+10A>C)
4g.154569785A>GCA108751777FGBc.1230A>G (p.Arg410=)
n.939+478A>G
c.573A>G (p.Arg191=)
c.1053A>G (p.Arg351=)
c.1098A>G (p.Arg366=)
c.930A>G (p.Arg310=)
c.1221A>G (p.Arg407=)
c.*4A>G (n.*4A>G)
c.1220+10A>G (n.1220+10A>G)
 dbSNP gnomAD v4
4g.154569785A>TCA358515606FGBc.1230A>T (p.Arg410Ser)
n.939+478A>T
c.573A>T (p.Arg191Ser)
c.1053A>T (p.Arg351Ser)
c.1098A>T (p.Arg366Ser)
c.930A>T (p.Arg310Ser)
c.1221A>T (p.Arg407Ser)
c.*4A>T (n.*4A>T)
c.1220+10A>T (n.1220+10A>T)
4g.154569786G>ACA358515607FGBc.1231G>A (p.Asp411Asn)
n.939+479G>A
c.574G>A (p.Asp192Asn)
c.1054G>A (p.Asp352Asn)
c.1099G>A (p.Asp367Asn)
c.931G>A (p.Asp311Asn)
c.1222G>A (p.Asp408Asn)
c.*5G>A (n.*5G>A)
c.1220+11G>A (n.1220+11G>A)
4g.154569786G>CCA358515608FGBc.1231G>C (p.Asp411His)
n.939+479G>C
c.574G>C (p.Asp192His)
c.1054G>C (p.Asp352His)
c.1099G>C (p.Asp367His)
c.931G>C (p.Asp311His)
c.1222G>C (p.Asp408His)
c.*5G>C (n.*5G>C)
c.1220+11G>C (n.1220+11G>C)
4g.154569786G>TCA358515610FGBc.1231G>T (p.Asp411Tyr)
n.939+479G>T
c.574G>T (p.Asp192Tyr)
c.1054G>T (p.Asp352Tyr)
c.1099G>T (p.Asp367Tyr)
c.931G>T (p.Asp311Tyr)
c.1222G>T (p.Asp408Tyr)
c.*5G>T (n.*5G>T)
c.1220+11G>T (n.1220+11G>T)
4g.154569787A>CCA358515612FGBc.1232A>C (p.Asp411Ala)
n.939+480A>C
c.575A>C (p.Asp192Ala)
c.1055A>C (p.Asp352Ala)
c.1100A>C (p.Asp367Ala)
c.932A>C (p.Asp311Ala)
c.1223A>C (p.Asp408Ala)
c.*6A>C (n.*6A>C)
c.1220+12A>C (n.1220+12A>C)
4g.154569787A>GCA358515614FGBc.1232A>G (p.Asp411Gly)
n.939+480A>G
c.575A>G (p.Asp192Gly)
c.1055A>G (p.Asp352Gly)
c.1100A>G (p.Asp367Gly)
c.932A>G (p.Asp311Gly)
c.1223A>G (p.Asp408Gly)
c.*6A>G (n.*6A>G)
c.1220+12A>G (n.1220+12A>G)
4g.154569787A>TCA358515615FGBc.1232A>T (p.Asp411Val)
n.939+480A>T
c.575A>T (p.Asp192Val)
c.1055A>T (p.Asp352Val)
c.1100A>T (p.Asp367Val)
c.932A>T (p.Asp311Val)
c.1223A>T (p.Asp408Val)
c.*6A>T (n.*6A>T)
c.1220+12A>T (n.1220+12A>T)
4g.154569788C>ACA358515617FGBc.1233C>A (p.Asp411Glu)
n.939+481C>A
c.576C>A (p.Asp192Glu)
c.1056C>A (p.Asp352Glu)
c.1101C>A (p.Asp367Glu)
c.933C>A (p.Asp311Glu)
c.1224C>A (p.Asp408Glu)
c.*7C>A (n.*7C>A)
c.1220+13C>A (n.1220+13C>A)
 dbSNP gnomAD v4
4g.154569788C=CA1504935651FGBc.1233C= (p.Asp411=)
n.939+481C=
c.576C= (p.Asp192=)
c.1056C= (p.Asp352=)
c.1101C= (p.Asp367=)
c.933C= (p.Asp311=)
c.1224C= (p.Asp408=)
c.*7C= (n.*7C=)
c.1220+13C= (n.1220+13C=)
4g.154569788C>GCA358515619FGBc.1233C>G (p.Asp411Glu)
n.939+481C>G
c.576C>G (p.Asp192Glu)
c.1056C>G (p.Asp352Glu)
c.1101C>G (p.Asp367Glu)
c.933C>G (p.Asp311Glu)
c.1224C>G (p.Asp408Glu)
c.*7C>G (n.*7C>G)
c.1220+13C>G (n.1220+13C>G)
4g.154569788C>TCA442013675FGBc.1233C>T (p.Asp411=)
n.939+481C>T
c.576C>T (p.Asp192=)
c.1056C>T (p.Asp352=)
c.1101C>T (p.Asp367=)
c.933C>T (p.Asp311=)
c.1224C>T (p.Asp408=)
c.*7C>T (n.*7C>T)
c.1220+13C>T (n.1220+13C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.154569789A=CA1504935652FGBc.1234A= (p.Asn412=)
n.939+482A=
c.577A= (p.Asn193=)
c.1057A= (p.Asn353=)
c.1102A= (p.Asn368=)
c.934A= (p.Asn312=)
c.1225A= (p.Asn409=)
c.*8A= (n.*8A=)
c.1220+14A= (n.1220+14A=)
4g.154569789A>CCA358515621FGBc.1234A>C (p.Asn412His)
n.939+482A>C
c.577A>C (p.Asn193His)
c.1057A>C (p.Asn353His)
c.1102A>C (p.Asn368His)
c.934A>C (p.Asn312His)
c.1225A>C (p.Asn409His)
c.*8A>C (n.*8A>C)
c.1220+14A>C (n.1220+14A>C)
4g.154569789A>GCA358515622FGBc.1234A>G (p.Asn412Asp)
n.939+482A>G
c.577A>G (p.Asn193Asp)
c.1057A>G (p.Asn353Asp)
c.1102A>G (p.Asn368Asp)
c.934A>G (p.Asn312Asp)
c.1225A>G (p.Asn409Asp)
c.*8A>G (n.*8A>G)
c.1220+14A>G (n.1220+14A>G)
4g.154569789A>TCA108751781FGBc.1234A>T (p.Asn412Tyr)
n.939+482A>T
c.577A>T (p.Asn193Tyr)
c.1057A>T (p.Asn353Tyr)
c.1102A>T (p.Asn368Tyr)
c.934A>T (p.Asn312Tyr)
c.1225A>T (p.Asn409Tyr)
c.*8A>T (n.*8A>T)
c.1220+14A>T (n.1220+14A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569790A=CA1504935653FGBc.1235A= (p.Asn412=)
n.939+483A=
c.578A= (p.Asn193=)
c.1058A= (p.Asn353=)
c.1103A= (p.Asn368=)
c.935A= (p.Asn312=)
c.1226A= (p.Asn409=)
c.*9A= (n.*9A=)
c.1220+15A= (n.1220+15A=)
4g.154569790A>CCA358515624FGBc.1235A>C (p.Asn412Thr)
n.939+483A>C
c.578A>C (p.Asn193Thr)
c.1058A>C (p.Asn353Thr)
c.1103A>C (p.Asn368Thr)
c.935A>C (p.Asn312Thr)
c.1226A>C (p.Asn409Thr)
c.*9A>C (n.*9A>C)
c.1220+15A>C (n.1220+15A>C)
4g.154569790A>GCA358515626FGBc.1235A>G (p.Asn412Ser)
n.939+483A>G
c.578A>G (p.Asn193Ser)
c.1058A>G (p.Asn353Ser)
c.1103A>G (p.Asn368Ser)
c.935A>G (p.Asn312Ser)
c.1226A>G (p.Asn409Ser)
c.*9A>G (n.*9A>G)
c.1220+15A>G (n.1220+15A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569790A>TCA358515628FGBc.1235A>T (p.Asn412Ile)
n.939+483A>T
c.578A>T (p.Asn193Ile)
c.1058A>T (p.Asn353Ile)
c.1103A>T (p.Asn368Ile)
c.935A>T (p.Asn312Ile)
c.1226A>T (p.Asn409Ile)
c.*9A>T (n.*9A>T)
c.1220+15A>T (n.1220+15A>T)
4g.154569791T>ACA358515629FGBc.1236T>A (p.Asn412Lys)
n.939+484T>A
c.579T>A (p.Asn193Lys)
c.1059T>A (p.Asn353Lys)
c.1104T>A (p.Asn368Lys)
c.936T>A (p.Asn312Lys)
c.1227T>A (p.Asn409Lys)
c.*10T>A (n.*10T>A)
c.1220+16T>A (n.1220+16T>A)
4g.154569791T>CCA442013679FGBc.1236T>C (p.Asn412=)
n.939+484T>C
c.579T>C (p.Asn193=)
c.1059T>C (p.Asn353=)
c.1104T>C (p.Asn368=)
c.936T>C (p.Asn312=)
c.1227T>C (p.Asn409=)
c.*10T>C (n.*10T>C)
c.1220+16T>C (n.1220+16T>C)
 dbSNP
4g.154569791T>GCA358515630FGBc.1236T>G (p.Asn412Lys)
n.939+484T>G
c.579T>G (p.Asn193Lys)
c.1059T>G (p.Asn353Lys)
c.1104T>G (p.Asn368Lys)
c.936T>G (p.Asn312Lys)
c.1227T>G (p.Asn409Lys)
c.*10T>G (n.*10T>G)
c.1220+16T>G (n.1220+16T>G)
4g.154569791T=CA1504935654FGBc.1236T= (p.Asn412=)
n.939+484T=
c.579T= (p.Asn193=)
c.1059T= (p.Asn353=)
c.1104T= (p.Asn368=)
c.936T= (p.Asn312=)
c.1227T= (p.Asn409=)
c.*10T= (n.*10T=)
c.1220+16T= (n.1220+16T=)
4g.154569792G>ACA358515632FGBc.1237G>A (p.Asp413Asn)
n.939+485G>A
c.580G>A (p.Asp194Asn)
c.1060G>A (p.Asp354Asn)
c.1105G>A (p.Asp369Asn)
c.937G>A (p.Asp313Asn)
c.1228G>A (p.Asp410Asn)
c.*11G>A (n.*11G>A)
c.1220+17G>A (n.1220+17G>A)
 gnomAD v4
4g.154569792G>CCA358515634FGBc.1237G>C (p.Asp413His)
n.939+485G>C
c.580G>C (p.Asp194His)
c.1060G>C (p.Asp354His)
c.1105G>C (p.Asp369His)
c.937G>C (p.Asp313His)
c.1228G>C (p.Asp410His)
c.*11G>C (n.*11G>C)
c.1220+17G>C (n.1220+17G>C)
4g.154569792G>TCA358515636FGBc.1237G>T (p.Asp413Tyr)
n.939+485G>T
c.580G>T (p.Asp194Tyr)
c.1060G>T (p.Asp354Tyr)
c.1105G>T (p.Asp369Tyr)
c.937G>T (p.Asp313Tyr)
c.1228G>T (p.Asp410Tyr)
c.*11G>T (n.*11G>T)
c.1220+17G>T (n.1220+17G>T)
4g.154569793A>CCA358515638FGBc.1238A>C (p.Asp413Ala)
n.939+486A>C
c.581A>C (p.Asp194Ala)
c.1061A>C (p.Asp354Ala)
c.1106A>C (p.Asp369Ala)
c.938A>C (p.Asp313Ala)
c.1229A>C (p.Asp410Ala)
c.*12A>C (n.*12A>C)
c.1220+18A>C (n.1220+18A>C)
4g.154569793A>GCA358515639FGBc.1238A>G (p.Asp413Gly)
n.939+486A>G
c.581A>G (p.Asp194Gly)
c.1061A>G (p.Asp354Gly)
c.1106A>G (p.Asp369Gly)
c.938A>G (p.Asp313Gly)
c.1229A>G (p.Asp410Gly)
c.*12A>G (n.*12A>G)
c.1220+18A>G (n.1220+18A>G)
 gnomAD v4
4g.154569793A>TCA358515640FGBc.1238A>T (p.Asp413Val)
n.939+486A>T
c.581A>T (p.Asp194Val)
c.1061A>T (p.Asp354Val)
c.1106A>T (p.Asp369Val)
c.938A>T (p.Asp313Val)
c.1229A>T (p.Asp410Val)
c.*12A>T (n.*12A>T)
c.1220+18A>T (n.1220+18A>T)
4g.154569794C>ACA358515642FGBc.1239C>A (p.Asp413Glu)
n.939+487C>A
c.582C>A (p.Asp194Glu)
c.1062C>A (p.Asp354Glu)
c.1107C>A (p.Asp369Glu)
c.939C>A (p.Asp313Glu)
c.1230C>A (p.Asp410Glu)
c.*13C>A (n.*13C>A)
c.1220+19C>A (n.1220+19C>A)
4g.154569794C=CA1504935655FGBc.1239C= (p.Asp413=)
n.939+487C=
c.582C= (p.Asp194=)
c.1062C= (p.Asp354=)
c.1107C= (p.Asp369=)
c.939C= (p.Asp313=)
c.1230C= (p.Asp410=)
c.*13C= (n.*13C=)
c.1220+19C= (n.1220+19C=)
4g.154569794C>GCA358515644FGBc.1239C>G (p.Asp413Glu)
n.939+487C>G
c.582C>G (p.Asp194Glu)
c.1062C>G (p.Asp354Glu)
c.1107C>G (p.Asp369Glu)
c.939C>G (p.Asp313Glu)
c.1230C>G (p.Asp410Glu)
c.*13C>G (n.*13C>G)
c.1220+19C>G (n.1220+19C>G)
 gnomAD v4
4g.154569794C>TCA3114743FGBc.1239C>T (p.Asp413=)
n.939+487C>T
c.582C>T (p.Asp194=)
c.1062C>T (p.Asp354=)
c.1107C>T (p.Asp369=)
c.939C>T (p.Asp313=)
c.1230C>T (p.Asp410=)
c.*13C>T (n.*13C>T)
c.1220+19C>T (n.1220+19C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569795G>ACA3114744FGBc.1240G>A (p.Gly414Ser)
n.939+488G>A
c.583G>A (p.Gly195Ser)
c.1063G>A (p.Gly355Ser)
c.1108G>A (p.Gly370Ser)
c.940G>A (p.Gly314Ser)
c.1231G>A (p.Gly411Ser)
c.*14G>A (n.*14G>A)
c.1220+20G>A (n.1220+20G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569795G>CCA358515647FGBc.1240G>C (p.Gly414Arg)
n.939+488G>C
c.583G>C (p.Gly195Arg)
c.1063G>C (p.Gly355Arg)
c.1108G>C (p.Gly370Arg)
c.940G>C (p.Gly314Arg)
c.1231G>C (p.Gly411Arg)
c.*14G>C (n.*14G>C)
c.1220+20G>C (n.1220+20G>C)
4g.154569795G=CA1504935656FGBc.1240G= (p.Gly414=)
n.939+488G=
c.583G= (p.Gly195=)
c.1063G= (p.Gly355=)
c.1108G= (p.Gly370=)
c.940G= (p.Gly314=)
c.1231G= (p.Gly411=)
c.*14G= (n.*14G=)
c.1220+20G= (n.1220+20G=)
4g.154569795G>TCA358515649FGBc.1240G>T (p.Gly414Cys)
n.939+488G>T
c.583G>T (p.Gly195Cys)
c.1063G>T (p.Gly355Cys)
c.1108G>T (p.Gly370Cys)
c.940G>T (p.Gly314Cys)
c.1231G>T (p.Gly411Cys)
c.*14G>T (n.*14G>T)
c.1220+20G>T (n.1220+20G>T)
 gnomAD v4 COSMIC
4g.154569796delCA915940559FGBc.1241del (p.Gly414AlafsTer3)
n.939+489del
c.584del (p.Gly195AlafsTer3)
c.1064del (p.Gly355AlafsTer3)
c.1109del (p.Gly370AlafsTer3)
c.1241del (p.Gly414AlafsTer22)
c.941del (p.Gly314AlafsTer3)
c.1232del (p.Gly411AlafsTer3)
c.*15del (n.*15del)
c.1220+21del (n.1220+21del)
4g.154569796G>ACA358515651FGBc.1241G>A (p.Gly414Asp)
n.939+489G>A
c.584G>A (p.Gly195Asp)
c.1064G>A (p.Gly355Asp)
c.1109G>A (p.Gly370Asp)
c.941G>A (p.Gly314Asp)
c.1232G>A (p.Gly411Asp)
c.*15G>A (n.*15G>A)
c.1220+21G>A (n.1220+21G>A)
 gnomAD v4
4g.154569796G>CCA358515654FGBc.1241G>C (p.Gly414Ala)
n.939+489G>C
c.584G>C (p.Gly195Ala)
c.1064G>C (p.Gly355Ala)
c.1109G>C (p.Gly370Ala)
c.941G>C (p.Gly314Ala)
c.1232G>C (p.Gly411Ala)
c.*15G>C (n.*15G>C)
c.1220+21G>C (n.1220+21G>C)
4g.154569796G>TCA358515652FGBc.1241G>T (p.Gly414Val)
n.939+489G>T
c.584G>T (p.Gly195Val)
c.1064G>T (p.Gly355Val)
c.1109G>T (p.Gly370Val)
c.941G>T (p.Gly314Val)
c.1232G>T (p.Gly411Val)
c.*15G>T (n.*15G>T)
c.1220+21G>T (n.1220+21G>T)
4g.154569797C>ACA442013686FGBc.1242C>A (p.Gly414=)
n.939+490C>A
c.585C>A (p.Gly195=)
c.1065C>A (p.Gly355=)
c.1110C>A (p.Gly370=)
c.942C>A (p.Gly314=)
c.1233C>A (p.Gly411=)
c.*16C>A (n.*16C>A)
c.1220+22C>A (n.1220+22C>A)
4g.154569797C>GCA442013688FGBc.1242C>G (p.Gly414=)
n.939+490C>G
c.585C>G (p.Gly195=)
c.1065C>G (p.Gly355=)
c.1110C>G (p.Gly370=)
c.942C>G (p.Gly314=)
c.1233C>G (p.Gly411=)
c.*16C>G (n.*16C>G)
c.1220+22C>G (n.1220+22C>G)
4g.154569797C>TCA442013690FGBc.1242C>T (p.Gly414=)
n.939+490C>T
c.585C>T (p.Gly195=)
c.1065C>T (p.Gly355=)
c.1110C>T (p.Gly370=)
c.942C>T (p.Gly314=)
c.1233C>T (p.Gly411=)
c.*16C>T (n.*16C>T)
c.1220+22C>T (n.1220+22C>T)
 gnomAD v4
4g.154569798T>ACA358515656FGBc.1243T>A (p.Trp415Arg)
n.939+491T>A
c.586T>A (p.Trp196Arg)
c.1066T>A (p.Trp356Arg)
c.1111T>A (p.Trp371Arg)
c.1243T>A (p.Cys415Ser)
c.1243T>A (p.Ter415Arg)
c.943T>A (p.Trp315Arg)
c.1234T>A (p.Trp412Arg)
c.*17T>A (n.*17T>A)
c.1220+23T>A (n.1220+23T>A)
4g.154569798T>CCA358515658FGBc.1243T>C (p.Trp415Arg)
n.939+491T>C
c.586T>C (p.Trp196Arg)
c.1066T>C (p.Trp356Arg)
c.1111T>C (p.Trp371Arg)
c.1243T>C (p.Cys415Arg)
c.1243T>C (p.Ter415Arg)
c.943T>C (p.Trp315Arg)
c.1234T>C (p.Trp412Arg)
c.*17T>C (n.*17T>C)
c.1220+23T>C (n.1220+23T>C)
4g.154569798T>GCA358515657FGBc.1243T>G (p.Trp415Gly)
n.939+491T>G
c.586T>G (p.Trp196Gly)
c.1066T>G (p.Trp356Gly)
c.1111T>G (p.Trp371Gly)
c.1243T>G (p.Cys415Gly)
c.1243T>G (p.Ter415Gly)
c.943T>G (p.Trp315Gly)
c.1234T>G (p.Trp412Gly)
c.*17T>G (n.*17T>G)
c.1220+23T>G (n.1220+23T>G)
4g.154569798_154569799delinsTGCA1504935657FGBc.1243_1244delinsTG (p.Trp415=)
n.939+491_939+492delinsTG
c.586_587delinsTG (p.Trp196=)
c.1066_1067delinsTG (p.Trp356=)
c.1111_1112delinsTG (p.Trp371=)
c.1243_1244delinsTG (p.Cys415=)
c.1243_1244delinsTG (p.Ter415=)
c.943_944delinsTG (p.Trp315=)
c.1234_1235delinsTG (p.Trp412=)
c.*17_*18delinsTG (n.*17_*18delinsTG)
c.1220+23_1220+24delinsTG (n.1220+23_1220+24delinsTG)
4g.154569799G>ACA358515659FGBc.1244G>A (p.Trp415Ter)
n.939+492G>A
c.587G>A (p.Trp196Ter)
c.1067G>A (p.Trp356Ter)
c.1112G>A (p.Trp371Ter)
c.1244G>A (p.Cys415Tyr)
c.1244G>A (p.Ter415=)
c.944G>A (p.Trp315Ter)
c.1235G>A (p.Trp412Ter)
c.*18G>A (n.*18G>A)
c.1220+24G>A (n.1220+24G>A)
4g.154569799G>CCA358515662FGBc.1244G>C (p.Trp415Ser)
n.939+492G>C
c.587G>C (p.Trp196Ser)
c.1067G>C (p.Trp356Ser)
c.1112G>C (p.Trp371Ser)
c.1244G>C (p.Cys415Ser)
c.1244G>C (p.Ter415Ser)
c.944G>C (p.Trp315Ser)
c.1235G>C (p.Trp412Ser)
c.*18G>C (n.*18G>C)
c.1220+24G>C (n.1220+24G>C)
4g.154569799G=CA1504935658FGBc.1244G= (p.Trp415=)
n.939+492G=
c.587G= (p.Trp196=)
c.1067G= (p.Trp356=)
c.1112G= (p.Trp371=)
c.1244G= (p.Cys415=)
c.1244G= (p.Ter415=)
c.944G= (p.Trp315=)
c.1235G= (p.Trp412=)
c.*18G= (n.*18G=)
c.1220+24G= (n.1220+24G=)
4g.154569799G>TCA358515660FGBc.1244G>T (p.Trp415Leu)
n.939+492G>T
c.587G>T (p.Trp196Leu)
c.1067G>T (p.Trp356Leu)
c.1112G>T (p.Trp371Leu)
c.1244G>T (p.Cys415Phe)
c.1244G>T (p.Ter415Leu)
c.944G>T (p.Trp315Leu)
c.1235G>T (p.Trp412Leu)
c.*18G>T (n.*18G>T)
c.1220+24G>T (n.1220+24G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569800delCA555971633FGBc.1244+1del
n.939+493del
c.587+1del
c.1067+1del
c.1112+1del
c.944+1del
c.1235+1del
c.*18+1del
c.1220+25del (n.1220+25del)
 dbSNP gnomAD v2 gnomAD v4
4g.154569800G>ACA358515663FGBc.1244+1G>A (n.1244+1G>A)
n.939+493G>A
c.587+1G>A (n.587+1G>A)
c.1067+1G>A (n.1067+1G>A)
c.1112+1G>A (n.1112+1G>A)
c.944+1G>A (n.944+1G>A)
c.1235+1G>A (n.1235+1G>A)
c.*18+1G>A (n.*18+1G>A)
c.1220+25G>A (n.1220+25G>A)
4g.154569800G>CCA358515665FGBc.1244+1G>C (n.1244+1G>C)
n.939+493G>C
c.587+1G>C (n.587+1G>C)
c.1067+1G>C (n.1067+1G>C)
c.1112+1G>C (n.1112+1G>C)
c.944+1G>C (n.944+1G>C)
c.1235+1G>C (n.1235+1G>C)
c.*18+1G>C (n.*18+1G>C)
c.1220+25G>C (n.1220+25G>C)
 dbSNP
4g.154569800G=CA1504935659FGBc.1244+1G= (n.1244+1G=)
n.939+493G=
c.587+1G= (n.587+1G=)
c.1067+1G= (n.1067+1G=)
c.1112+1G= (n.1112+1G=)
c.944+1G= (n.944+1G=)
c.1235+1G= (n.1235+1G=)
c.*18+1G= (n.*18+1G=)
c.1220+25G= (n.1220+25G=)
4g.154569800G>TCA126449FGBc.1244+1G>T (n.1244+1G>T)
n.939+493G>T
c.587+1G>T (n.587+1G>T)
c.1067+1G>T (n.1067+1G>T)
c.1112+1G>T (n.1112+1G>T)
c.944+1G>T (n.944+1G>T)
c.1235+1G>T (n.1235+1G>T)
c.*18+1G>T (n.*18+1G>T)
c.1220+25G>T (n.1220+25G>T)
 ClinVar dbSNP
4g.154569801T>ACA358515668FGBc.1244+2T>A (n.1244+2T>A)
n.939+494T>A
c.587+2T>A (n.587+2T>A)
c.1067+2T>A (n.1067+2T>A)
c.1112+2T>A (n.1112+2T>A)
c.944+2T>A (n.944+2T>A)
c.1235+2T>A (n.1235+2T>A)
c.*18+2T>A (n.*18+2T>A)
c.1220+26T>A (n.1220+26T>A)
4g.154569801T>CCA358515669FGBc.1244+2T>C (n.1244+2T>C)
n.939+494T>C
c.587+2T>C (n.587+2T>C)
c.1067+2T>C (n.1067+2T>C)
c.1112+2T>C (n.1112+2T>C)
c.944+2T>C (n.944+2T>C)
c.1235+2T>C (n.1235+2T>C)
c.*18+2T>C (n.*18+2T>C)
c.1220+26T>C (n.1220+26T>C)
4g.154569801T>GCA3114745FGBc.1244+2T>G (n.1244+2T>G)
n.939+494T>G
c.587+2T>G (n.587+2T>G)
c.1067+2T>G (n.1067+2T>G)
c.1112+2T>G (n.1112+2T>G)
c.944+2T>G (n.944+2T>G)
c.1235+2T>G (n.1235+2T>G)
c.*18+2T>G (n.*18+2T>G)
c.1220+26T>G (n.1220+26T>G)
 dbSNP ExAC gnomAD v2
4g.154569801T=CA1504935660FGBc.1244+2T= (n.1244+2T=)
n.939+494T=
c.587+2T= (n.587+2T=)
c.1067+2T= (n.1067+2T=)
c.1112+2T= (n.1112+2T=)
c.944+2T= (n.944+2T=)
c.1235+2T= (n.1235+2T=)
c.*18+2T= (n.*18+2T=)
c.1220+26T= (n.1220+26T=)
4g.154569802A=CA1504935661FGBc.1244+3A= (n.1244+3A=)
n.939+495A=
c.587+3A= (n.587+3A=)
c.1067+3A= (n.1067+3A=)
c.1112+3A= (n.1112+3A=)
c.944+3A= (n.944+3A=)
c.1235+3A= (n.1235+3A=)
c.*18+3A= (n.*18+3A=)
c.1220+27A= (n.1220+27A=)
4g.154569802A>TCA108751808FGBc.1244+3A>T (n.1244+3A>T)
n.939+495A>T
c.587+3A>T (n.587+3A>T)
c.1067+3A>T (n.1067+3A>T)
c.1112+3A>T (n.1112+3A>T)
c.944+3A>T (n.944+3A>T)
c.1235+3A>T (n.1235+3A>T)
c.*18+3A>T (n.*18+3A>T)
c.1220+27A>T (n.1220+27A>T)
 dbSNP
4g.154569803T>ACA555971634FGBc.1244+4T>A (n.1244+4T>A)
n.939+496T>A
c.587+4T>A (n.587+4T>A)
c.1067+4T>A (n.1067+4T>A)
c.1112+4T>A (n.1112+4T>A)
c.944+4T>A (n.944+4T>A)
c.1235+4T>A (n.1235+4T>A)
c.*18+4T>A (n.*18+4T>A)
c.1220+28T>A (n.1220+28T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569803T=CA1504935662FGBc.1244+4T= (n.1244+4T=)
n.939+496T=
c.587+4T= (n.587+4T=)
c.1067+4T= (n.1067+4T=)
c.1112+4T= (n.1112+4T=)
c.944+4T= (n.944+4T=)
c.1235+4T= (n.1235+4T=)
c.*18+4T= (n.*18+4T=)
c.1220+28T= (n.1220+28T=)

Number of alleles fetched