Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.117147660A>CCA341807997VTCN1c.847T>G (p.Ter283Glu)
c.499T>G (p.Ter167Glu)
c.856T>G (p.Ter286Glu)
c.562T>G (p.Ter188Glu)
n.1042T>G
n.746T>G
c.898T>G (p.Ter300Glu)
c.901T>G (p.Ter301Glu)
c.862T>G (p.Ter288Glu)
c.997T>G (p.Ter333Glu)
n.1009T>G
n.713T>G
1g.117147660A>GCA341807998VTCN1c.847T>C (p.Ter283Gln)
c.499T>C (p.Ter167Gln)
c.856T>C (p.Ter286Gln)
c.562T>C (p.Ter188Gln)
n.1042T>C
n.746T>C
c.898T>C (p.Ter300Gln)
c.901T>C (p.Ter301Gln)
c.862T>C (p.Ter288Gln)
c.997T>C (p.Ter333Gln)
n.1009T>C
n.713T>C
1g.117147660A>TCA341808000VTCN1c.847T>A (p.Ter283Lys)
c.499T>A (p.Ter167Lys)
c.856T>A (p.Ter286Lys)
c.562T>A (p.Ter188Lys)
n.1042T>A
n.746T>A
c.898T>A (p.Ter300Lys)
c.901T>A (p.Ter301Lys)
c.862T>A (p.Ter288Lys)
c.997T>A (p.Ter333Lys)
n.1009T>A
n.713T>A
1g.117147661T>ACA341808001VTCN1c.846A>T (p.Lys282Asn)
c.498A>T (p.Lys166Asn)
c.855A>T (p.Lys285Asn)
c.561A>T (p.Lys187Asn)
n.1041A>T
n.745A>T
c.897A>T (p.Lys299Asn)
c.900A>T (p.Lys300Asn)
c.861A>T (p.Lys287Asn)
c.996A>T (p.Lys332Asn)
n.1008A>T
n.712A>T
1g.117147661T>CCA419932302VTCN1c.846A>G (p.Lys282=)
c.498A>G (p.Lys166=)
c.855A>G (p.Lys285=)
c.561A>G (p.Lys187=)
n.1041A>G
n.745A>G
c.897A>G (p.Lys299=)
c.900A>G (p.Lys300=)
c.861A>G (p.Lys287=)
c.996A>G (p.Lys332=)
n.1008A>G
n.712A>G
1g.117147661T>GCA341808003VTCN1c.846A>C (p.Lys282Asn)
c.498A>C (p.Lys166Asn)
c.855A>C (p.Lys285Asn)
c.561A>C (p.Lys187Asn)
n.1041A>C
n.745A>C
c.897A>C (p.Lys299Asn)
c.900A>C (p.Lys300Asn)
c.861A>C (p.Lys287Asn)
c.996A>C (p.Lys332Asn)
n.1008A>C
n.712A>C
1g.117147662T>ACA341808004VTCN1c.845A>T (p.Lys282Ile)
c.497A>T (p.Lys166Ile)
c.854A>T (p.Lys285Ile)
c.560A>T (p.Lys187Ile)
n.1040A>T
n.744A>T
c.896A>T (p.Lys299Ile)
c.899A>T (p.Lys300Ile)
c.860A>T (p.Lys287Ile)
c.995A>T (p.Lys332Ile)
n.1007A>T
n.711A>T
1g.117147662T>CCA341808005VTCN1c.845A>G (p.Lys282Arg)
c.497A>G (p.Lys166Arg)
c.854A>G (p.Lys285Arg)
c.560A>G (p.Lys187Arg)
n.1040A>G
n.744A>G
c.896A>G (p.Lys299Arg)
c.899A>G (p.Lys300Arg)
c.860A>G (p.Lys287Arg)
c.995A>G (p.Lys332Arg)
n.1007A>G
n.711A>G
 dbSNP gnomAD v4
1g.117147662T>GCA341808006VTCN1c.845A>C (p.Lys282Thr)
c.497A>C (p.Lys166Thr)
c.854A>C (p.Lys285Thr)
c.560A>C (p.Lys187Thr)
n.1040A>C
n.744A>C
c.896A>C (p.Lys299Thr)
c.899A>C (p.Lys300Thr)
c.860A>C (p.Lys287Thr)
c.995A>C (p.Lys332Thr)
n.1007A>C
n.711A>C
1g.117147662T=CA1191316888VTCN1c.845A= (p.Lys282=)
c.497A= (p.Lys166=)
c.854A= (p.Lys285=)
c.560A= (p.Lys187=)
n.1040A=
n.744A=
c.896A= (p.Lys299=)
c.899A= (p.Lys300=)
c.860A= (p.Lys287=)
c.995A= (p.Lys332=)
n.1007A=
n.711A=
1g.117147663T>ACA341808009VTCN1c.844A>T (p.Lys282Ter)
c.496A>T (p.Lys166Ter)
c.853A>T (p.Lys285Ter)
c.559A>T (p.Lys187Ter)
n.1039A>T
n.743A>T
c.895A>T (p.Lys299Ter)
c.898A>T (p.Lys300Ter)
c.859A>T (p.Lys287Ter)
c.994A>T (p.Lys332Ter)
n.1006A>T
n.710A>T
1g.117147663T>CCA341808010VTCN1c.844A>G (p.Lys282Glu)
c.496A>G (p.Lys166Glu)
c.853A>G (p.Lys285Glu)
c.559A>G (p.Lys187Glu)
n.1039A>G
n.743A>G
c.895A>G (p.Lys299Glu)
c.898A>G (p.Lys300Glu)
c.859A>G (p.Lys287Glu)
c.994A>G (p.Lys332Glu)
n.1006A>G
n.710A>G
1g.117147663T>GCA341808012VTCN1c.844A>C (p.Lys282Gln)
c.496A>C (p.Lys166Gln)
c.853A>C (p.Lys285Gln)
c.559A>C (p.Lys187Gln)
n.1039A>C
n.743A>C
c.895A>C (p.Lys299Gln)
c.898A>C (p.Lys300Gln)
c.859A>C (p.Lys287Gln)
c.994A>C (p.Lys332Gln)
n.1006A>C
n.710A>C
1g.117147664T>ACA419932309VTCN1c.843A>T (p.Leu281=)
c.495A>T (p.Leu165=)
c.852A>T (p.Leu284=)
c.558A>T (p.Leu186=)
n.1038A>T
n.742A>T
c.894A>T (p.Leu298=)
c.897A>T (p.Leu299=)
c.858A>T (p.Leu286=)
c.993A>T (p.Leu331=)
n.1005A>T
n.709A>T
 gnomAD v4
1g.117147664T>CCA419932307VTCN1c.843A>G (p.Leu281=)
c.495A>G (p.Leu165=)
c.852A>G (p.Leu284=)
c.558A>G (p.Leu186=)
n.1038A>G
n.742A>G
c.894A>G (p.Leu298=)
c.897A>G (p.Leu299=)
c.858A>G (p.Leu286=)
c.993A>G (p.Leu331=)
n.1005A>G
n.709A>G
 gnomAD v4
1g.117147664T>GCA419932308VTCN1c.843A>C (p.Leu281=)
c.495A>C (p.Leu165=)
c.852A>C (p.Leu284=)
c.558A>C (p.Leu186=)
n.1038A>C
n.742A>C
c.894A>C (p.Leu298=)
c.897A>C (p.Leu299=)
c.858A>C (p.Leu286=)
c.993A>C (p.Leu331=)
n.1005A>C
n.709A>C
1g.117147665A>CCA341808017VTCN1c.842T>G (p.Leu281Arg)
c.494T>G (p.Leu165Arg)
c.851T>G (p.Leu284Arg)
c.557T>G (p.Leu186Arg)
n.1037T>G
n.741T>G
c.893T>G (p.Leu298Arg)
c.896T>G (p.Leu299Arg)
c.857T>G (p.Leu286Arg)
c.992T>G (p.Leu331Arg)
n.1004T>G
n.708T>G
1g.117147665A>GCA341808015VTCN1c.842T>C (p.Leu281Pro)
c.494T>C (p.Leu165Pro)
c.851T>C (p.Leu284Pro)
c.557T>C (p.Leu186Pro)
n.1037T>C
n.741T>C
c.893T>C (p.Leu298Pro)
c.896T>C (p.Leu299Pro)
c.857T>C (p.Leu286Pro)
c.992T>C (p.Leu331Pro)
n.1004T>C
n.708T>C
 gnomAD v4
1g.117147665A>TCA341808013VTCN1c.842T>A (p.Leu281Gln)
c.494T>A (p.Leu165Gln)
c.851T>A (p.Leu284Gln)
c.557T>A (p.Leu186Gln)
n.1037T>A
n.741T>A
c.893T>A (p.Leu298Gln)
c.896T>A (p.Leu299Gln)
c.857T>A (p.Leu286Gln)
c.992T>A (p.Leu331Gln)
n.1004T>A
n.708T>A
1g.117147666G>ACA419932311VTCN1c.841C>T (p.Leu281=)
c.493C>T (p.Leu165=)
c.850C>T (p.Leu284=)
c.556C>T (p.Leu186=)
n.1036C>T
n.740C>T
c.892C>T (p.Leu298=)
c.895C>T (p.Leu299=)
c.856C>T (p.Leu286=)
c.991C>T (p.Leu331=)
n.1003C>T
n.707C>T
 dbSNP gnomAD v2
1g.117147666G>CCA341808019VTCN1c.841C>G (p.Leu281Val)
c.493C>G (p.Leu165Val)
c.850C>G (p.Leu284Val)
c.556C>G (p.Leu186Val)
n.1036C>G
n.740C>G
c.892C>G (p.Leu298Val)
c.895C>G (p.Leu299Val)
c.856C>G (p.Leu286Val)
c.991C>G (p.Leu331Val)
n.1003C>G
n.707C>G
 gnomAD v4
1g.117147666G=CA1191316889VTCN1c.841C= (p.Leu281=)
c.493C= (p.Leu165=)
c.850C= (p.Leu284=)
c.556C= (p.Leu186=)
n.1036C=
n.740C=
c.892C= (p.Leu298=)
c.895C= (p.Leu299=)
c.856C= (p.Leu286=)
c.991C= (p.Leu331=)
n.1003C=
n.707C=
1g.117147666G>TCA341808020VTCN1c.841C>A (p.Leu281Ile)
c.493C>A (p.Leu165Ile)
c.850C>A (p.Leu284Ile)
c.556C>A (p.Leu186Ile)
n.1036C>A
n.740C>A
c.892C>A (p.Leu298Ile)
c.895C>A (p.Leu299Ile)
c.856C>A (p.Leu286Ile)
c.991C>A (p.Leu331Ile)
n.1003C>A
n.707C>A
1g.117147667C>ACA1030299VTCN1c.840G>T (p.Met280Ile)
c.492G>T (p.Met164Ile)
c.849G>T (p.Met283Ile)
c.555G>T (p.Met185Ile)
n.1035G>T
n.739G>T
c.891G>T (p.Met297Ile)
c.894G>T (p.Met298Ile)
c.855G>T (p.Met285Ile)
c.990G>T (p.Met330Ile)
n.1002G>T
n.706G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.117147667C=CA1147559645VTCN1c.840G= (p.Met280=)
c.492G= (p.Met164=)
c.849G= (p.Met283=)
c.555G= (p.Met185=)
n.1035G=
n.739G=
c.891G= (p.Met297=)
c.894G= (p.Met298=)
c.855G= (p.Met285=)
c.990G= (p.Met330=)
n.1002G=
n.706G=
1g.117147667C>GCA341808022VTCN1c.840G>C (p.Met280Ile)
c.492G>C (p.Met164Ile)
c.849G>C (p.Met283Ile)
c.555G>C (p.Met185Ile)
n.1035G>C
n.739G>C
c.891G>C (p.Met297Ile)
c.894G>C (p.Met298Ile)
c.855G>C (p.Met285Ile)
c.990G>C (p.Met330Ile)
n.1002G>C
n.706G>C
1g.117147667C>TCA341808024VTCN1c.840G>A (p.Met280Ile)
c.492G>A (p.Met164Ile)
c.849G>A (p.Met283Ile)
c.555G>A (p.Met185Ile)
n.1035G>A
n.739G>A
c.891G>A (p.Met297Ile)
c.894G>A (p.Met298Ile)
c.855G>A (p.Met285Ile)
c.990G>A (p.Met330Ile)
n.1002G>A
n.706G>A
 gnomAD v4
1g.117147667_117147668insTCA2647331101VTCN1c.839_840insA (p.Met280IlefsTer?)
c.491_492insA (p.Met164IlefsTer?)
c.848_849insA (p.Met283IlefsTer?)
c.554_555insA (p.Met185IlefsTer?)
n.1034_1035insA
n.738_739insA
c.890_891insA (p.Met297IlefsTer?)
c.893_894insA (p.Met298IlefsTer?)
c.854_855insA (p.Met285IlefsTer?)
c.989_990insA (p.Met330IlefsTer?)
n.1001_1002insA
n.705_706insA
 gnomAD v4
1g.117147668A>CCA341808026VTCN1c.839T>G (p.Met280Arg)
c.491T>G (p.Met164Arg)
c.848T>G (p.Met283Arg)
c.554T>G (p.Met185Arg)
n.1034T>G
n.738T>G
c.890T>G (p.Met297Arg)
c.893T>G (p.Met298Arg)
c.854T>G (p.Met285Arg)
c.989T>G (p.Met330Arg)
n.1001T>G
n.705T>G
 gnomAD v4
1g.117147668A>GCA341808027VTCN1c.839T>C (p.Met280Thr)
c.491T>C (p.Met164Thr)
c.848T>C (p.Met283Thr)
c.554T>C (p.Met185Thr)
n.1034T>C
n.738T>C
c.890T>C (p.Met297Thr)
c.893T>C (p.Met298Thr)
c.854T>C (p.Met285Thr)
c.989T>C (p.Met330Thr)
n.1001T>C
n.705T>C
1g.117147668A>TCA341808029VTCN1c.839T>A (p.Met280Lys)
c.491T>A (p.Met164Lys)
c.848T>A (p.Met283Lys)
c.554T>A (p.Met185Lys)
n.1034T>A
n.738T>A
c.890T>A (p.Met297Lys)
c.893T>A (p.Met298Lys)
c.854T>A (p.Met285Lys)
c.989T>A (p.Met330Lys)
n.1001T>A
n.705T>A
1g.117147669T>ACA1030300VTCN1c.838A>T (p.Met280Leu)
c.490A>T (p.Met164Leu)
c.847A>T (p.Met283Leu)
c.553A>T (p.Met185Leu)
n.1033A>T
n.737A>T
c.889A>T (p.Met297Leu)
c.892A>T (p.Met298Leu)
c.853A>T (p.Met285Leu)
c.988A>T (p.Met330Leu)
n.1000A>T
n.704A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.117147669T>CCA341808031VTCN1c.838A>G (p.Met280Val)
c.490A>G (p.Met164Val)
c.847A>G (p.Met283Val)
c.553A>G (p.Met185Val)
n.1033A>G
n.737A>G
c.889A>G (p.Met297Val)
c.892A>G (p.Met298Val)
c.853A>G (p.Met285Val)
c.988A>G (p.Met330Val)
n.1000A>G
n.704A>G
 gnomAD v4
1g.117147669T>GCA341808033VTCN1c.838A>C (p.Met280Leu)
c.490A>C (p.Met164Leu)
c.847A>C (p.Met283Leu)
c.553A>C (p.Met185Leu)
n.1033A>C
n.737A>C
c.889A>C (p.Met297Leu)
c.892A>C (p.Met298Leu)
c.853A>C (p.Met285Leu)
c.988A>C (p.Met330Leu)
n.1000A>C
n.704A>C
1g.117147669T=CA1191316890VTCN1c.838A= (p.Met280=)
c.490A= (p.Met164=)
c.847A= (p.Met283=)
c.553A= (p.Met185=)
n.1033A=
n.737A=
c.889A= (p.Met297=)
c.892A= (p.Met298=)
c.853A= (p.Met285=)
c.988A= (p.Met330=)
n.1000A=
n.704A=
1g.117147670C>ACA419932320VTCN1c.837G>T (p.Leu279=)
c.489G>T (p.Leu163=)
c.846G>T (p.Leu282=)
c.552G>T (p.Leu184=)
n.1032G>T
n.736G>T
c.888G>T (p.Leu296=)
c.891G>T (p.Leu297=)
c.852G>T (p.Leu284=)
c.987G>T (p.Leu329=)
n.999G>T
n.703G>T
 gnomAD v4
1g.117147670C>GCA419932322VTCN1c.837G>C (p.Leu279=)
c.489G>C (p.Leu163=)
c.846G>C (p.Leu282=)
c.552G>C (p.Leu184=)
n.1032G>C
n.736G>C
c.888G>C (p.Leu296=)
c.891G>C (p.Leu297=)
c.852G>C (p.Leu284=)
c.987G>C (p.Leu329=)
n.999G>C
n.703G>C
1g.117147670C>TCA419932321VTCN1c.837G>A (p.Leu279=)
c.489G>A (p.Leu163=)
c.846G>A (p.Leu282=)
c.552G>A (p.Leu184=)
n.1032G>A
n.736G>A
c.888G>A (p.Leu296=)
c.891G>A (p.Leu297=)
c.852G>A (p.Leu284=)
c.987G>A (p.Leu329=)
n.999G>A
n.703G>A
 gnomAD v4
1g.117147671A=CA1143846451VTCN1c.836T= (p.Leu279=)
c.488T= (p.Leu163=)
c.845T= (p.Leu282=)
c.551T= (p.Leu184=)
n.1031T=
n.735T=
c.887T= (p.Leu296=)
c.890T= (p.Leu297=)
c.851T= (p.Leu284=)
c.986T= (p.Leu329=)
n.998T=
n.702T=
1g.117147671A>CCA341808034VTCN1c.836T>G (p.Leu279Arg)
c.488T>G (p.Leu163Arg)
c.845T>G (p.Leu282Arg)
c.551T>G (p.Leu184Arg)
n.1031T>G
n.735T>G
c.887T>G (p.Leu296Arg)
c.890T>G (p.Leu297Arg)
c.851T>G (p.Leu284Arg)
c.986T>G (p.Leu329Arg)
n.998T>G
n.702T>G
1g.117147671A>GCA1030301VTCN1c.836T>C (p.Leu279Pro)
c.488T>C (p.Leu163Pro)
c.845T>C (p.Leu282Pro)
c.551T>C (p.Leu184Pro)
n.1031T>C
n.735T>C
c.887T>C (p.Leu296Pro)
c.890T>C (p.Leu297Pro)
c.851T>C (p.Leu284Pro)
c.986T>C (p.Leu329Pro)
n.998T>C
n.702T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.117147671A>TCA341808037VTCN1c.836T>A (p.Leu279Gln)
c.488T>A (p.Leu163Gln)
c.845T>A (p.Leu282Gln)
c.551T>A (p.Leu184Gln)
n.1031T>A
n.735T>A
c.887T>A (p.Leu296Gln)
c.890T>A (p.Leu297Gln)
c.851T>A (p.Leu284Gln)
c.986T>A (p.Leu329Gln)
n.998T>A
n.702T>A
1g.117147672G>ACA419932323VTCN1c.835C>T (p.Leu279=)
c.487C>T (p.Leu163=)
c.844C>T (p.Leu282=)
c.550C>T (p.Leu184=)
n.1030C>T
n.734C>T
c.886C>T (p.Leu296=)
c.889C>T (p.Leu297=)
c.850C>T (p.Leu284=)
c.985C>T (p.Leu329=)
n.997C>T
n.701C>T
1g.117147672G>CCA341808039VTCN1c.835C>G (p.Leu279Val)
c.487C>G (p.Leu163Val)
c.844C>G (p.Leu282Val)
c.550C>G (p.Leu184Val)
n.1030C>G
n.734C>G
c.886C>G (p.Leu296Val)
c.889C>G (p.Leu297Val)
c.850C>G (p.Leu284Val)
c.985C>G (p.Leu329Val)
n.997C>G
n.701C>G
1g.117147672G>TCA341808038VTCN1c.835C>A (p.Leu279Met)
c.487C>A (p.Leu163Met)
c.844C>A (p.Leu282Met)
c.550C>A (p.Leu184Met)
n.1030C>A
n.734C>A
c.886C>A (p.Leu296Met)
c.889C>A (p.Leu297Met)
c.850C>A (p.Leu284Met)
c.985C>A (p.Leu329Met)
n.997C>A
n.701C>A
1g.117147673G>ACA1030302VTCN1c.834C>T (p.Tyr278=)
c.486C>T (p.Tyr162=)
c.843C>T (p.Tyr281=)
c.549C>T (p.Tyr183=)
n.1029C>T
n.733C>T
c.885C>T (p.Tyr295=)
c.888C>T (p.Tyr296=)
c.849C>T (p.Tyr283=)
c.984C>T (p.Tyr328=)
n.996C>T
n.700C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.117147673G>CCA341808042VTCN1c.834C>G (p.Tyr278Ter)
c.486C>G (p.Tyr162Ter)
c.843C>G (p.Tyr281Ter)
c.549C>G (p.Tyr183Ter)
n.1029C>G
n.733C>G
c.885C>G (p.Tyr295Ter)
c.888C>G (p.Tyr296Ter)
c.849C>G (p.Tyr283Ter)
c.984C>G (p.Tyr328Ter)
n.996C>G
n.700C>G
 gnomAD v4
1g.117147673G=CA1191316891VTCN1c.834C= (p.Tyr278=)
c.486C= (p.Tyr162=)
c.843C= (p.Tyr281=)
c.549C= (p.Tyr183=)
n.1029C=
n.733C=
c.885C= (p.Tyr295=)
c.888C= (p.Tyr296=)
c.849C= (p.Tyr283=)
c.984C= (p.Tyr328=)
n.996C=
n.700C=
1g.117147673G>TCA341808044VTCN1c.834C>A (p.Tyr278Ter)
c.486C>A (p.Tyr162Ter)
c.843C>A (p.Tyr281Ter)
c.549C>A (p.Tyr183Ter)
n.1029C>A
n.733C>A
c.885C>A (p.Tyr295Ter)
c.888C>A (p.Tyr296Ter)
c.849C>A (p.Tyr283Ter)
c.984C>A (p.Tyr328Ter)
n.996C>A
n.700C>A
1g.117147674T>ACA341808045VTCN1c.833A>T (p.Tyr278Phe)
c.485A>T (p.Tyr162Phe)
c.842A>T (p.Tyr281Phe)
c.548A>T (p.Tyr183Phe)
n.1028A>T
n.732A>T
c.884A>T (p.Tyr295Phe)
c.887A>T (p.Tyr296Phe)
c.848A>T (p.Tyr283Phe)
c.983A>T (p.Tyr328Phe)
n.995A>T
n.699A>T
1g.117147674T>CCA341808047VTCN1c.833A>G (p.Tyr278Cys)
c.485A>G (p.Tyr162Cys)
c.842A>G (p.Tyr281Cys)
c.548A>G (p.Tyr183Cys)
n.1028A>G
n.732A>G
c.884A>G (p.Tyr295Cys)
c.887A>G (p.Tyr296Cys)
c.848A>G (p.Tyr283Cys)
c.983A>G (p.Tyr328Cys)
n.995A>G
n.699A>G
1g.117147674T>GCA341808049VTCN1c.833A>C (p.Tyr278Ser)
c.485A>C (p.Tyr162Ser)
c.842A>C (p.Tyr281Ser)
c.548A>C (p.Tyr183Ser)
n.1028A>C
n.732A>C
c.884A>C (p.Tyr295Ser)
c.887A>C (p.Tyr296Ser)
c.848A>C (p.Tyr283Ser)
c.983A>C (p.Tyr328Ser)
n.995A>C
n.699A>C
1g.117147675A>CCA341808051VTCN1c.832T>G (p.Tyr278Asp)
c.484T>G (p.Tyr162Asp)
c.841T>G (p.Tyr281Asp)
c.547T>G (p.Tyr183Asp)
n.1027T>G
n.731T>G
c.883T>G (p.Tyr295Asp)
c.886T>G (p.Tyr296Asp)
c.847T>G (p.Tyr283Asp)
c.982T>G (p.Tyr328Asp)
n.994T>G
n.698T>G
1g.117147675A>GCA341808052VTCN1c.832T>C (p.Tyr278His)
c.484T>C (p.Tyr162His)
c.841T>C (p.Tyr281His)
c.547T>C (p.Tyr183His)
n.1027T>C
n.731T>C
c.883T>C (p.Tyr295His)
c.886T>C (p.Tyr296His)
c.847T>C (p.Tyr283His)
c.982T>C (p.Tyr328His)
n.994T>C
n.698T>C
1g.117147675A>TCA341808053VTCN1c.832T>A (p.Tyr278Asn)
c.484T>A (p.Tyr162Asn)
c.841T>A (p.Tyr281Asn)
c.547T>A (p.Tyr183Asn)
n.1027T>A
n.731T>A
c.883T>A (p.Tyr295Asn)
c.886T>A (p.Tyr296Asn)
c.847T>A (p.Tyr283Asn)
c.982T>A (p.Tyr328Asn)
n.994T>A
n.698T>A
1g.117147676A>CCA419932330VTCN1c.831T>G (p.Pro277=)
c.483T>G (p.Pro161=)
c.840T>G (p.Pro280=)
c.546T>G (p.Pro182=)
n.1026T>G
n.730T>G
c.882T>G (p.Pro294=)
c.885T>G (p.Pro295=)
c.846T>G (p.Pro282=)
c.981T>G (p.Pro327=)
n.993T>G
n.697T>G
1g.117147676A>GCA419932329VTCN1c.831T>C (p.Pro277=)
c.483T>C (p.Pro161=)
c.840T>C (p.Pro280=)
c.546T>C (p.Pro182=)
n.1026T>C
n.730T>C
c.882T>C (p.Pro294=)
c.885T>C (p.Pro295=)
c.846T>C (p.Pro282=)
c.981T>C (p.Pro327=)
n.993T>C
n.697T>C
 gnomAD v4
1g.117147676A>TCA419932328VTCN1c.831T>A (p.Pro277=)
c.483T>A (p.Pro161=)
c.840T>A (p.Pro280=)
c.546T>A (p.Pro182=)
n.1026T>A
n.730T>A
c.882T>A (p.Pro294=)
c.885T>A (p.Pro295=)
c.846T>A (p.Pro282=)
c.981T>A (p.Pro327=)
n.993T>A
n.697T>A
1g.117147676_117147677delinsAGCA1191316892VTCN1c.830_831delinsCT (p.Pro277=)
c.482_483delinsCT (p.Pro161=)
c.839_840delinsCT (p.Pro280=)
c.545_546delinsCT (p.Pro182=)
n.1025_1026delinsCT
n.729_730delinsCT
c.881_882delinsCT (p.Pro294=)
c.884_885delinsCT (p.Pro295=)
c.845_846delinsCT (p.Pro282=)
c.980_981delinsCT (p.Pro327=)
n.992_993delinsCT
n.696_697delinsCT
1g.117147677G>ACA341808054VTCN1c.830C>T (p.Pro277Leu)
c.482C>T (p.Pro161Leu)
c.839C>T (p.Pro280Leu)
c.545C>T (p.Pro182Leu)
n.1025C>T
n.729C>T
c.881C>T (p.Pro294Leu)
c.884C>T (p.Pro295Leu)
c.845C>T (p.Pro282Leu)
c.980C>T (p.Pro327Leu)
n.992C>T
n.696C>T
1g.117147677G>CCA341808056VTCN1c.830C>G (p.Pro277Arg)
c.482C>G (p.Pro161Arg)
c.839C>G (p.Pro280Arg)
c.545C>G (p.Pro182Arg)
n.1025C>G
n.729C>G
c.881C>G (p.Pro294Arg)
c.884C>G (p.Pro295Arg)
c.845C>G (p.Pro282Arg)
c.980C>G (p.Pro327Arg)
n.992C>G
n.696C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.117147677G=CA1191316894VTCN1c.830C= (p.Pro277=)
c.482C= (p.Pro161=)
c.839C= (p.Pro280=)
c.545C= (p.Pro182=)
n.1025C=
n.729C=
c.881C= (p.Pro294=)
c.884C= (p.Pro295=)
c.845C= (p.Pro282=)
c.980C= (p.Pro327=)
n.992C=
n.696C=
1g.117147677G>TCA341808057VTCN1c.830C>A (p.Pro277His)
c.482C>A (p.Pro161His)
c.839C>A (p.Pro280His)
c.545C>A (p.Pro182His)
n.1025C>A
n.729C>A
c.881C>A (p.Pro294His)
c.884C>A (p.Pro295His)
c.845C>A (p.Pro282His)
c.980C>A (p.Pro327His)
n.992C>A
n.696C>A
1g.117147679delCA1191316893VTCN1c.830del (p.Pro277LeufsTer3)
c.482del (p.Pro161LeufsTer3)
c.839del (p.Pro280LeufsTer3)
c.545del (p.Pro182LeufsTer3)
n.1025del
n.729del
c.881del (p.Pro294LeufsTer3)
c.884del (p.Pro295LeufsTer3)
c.845del (p.Pro282LeufsTer3)
c.980del (p.Pro327LeufsTer3)
n.992del
n.696del
 dbSNP
1g.117147678G>ACA341808060VTCN1c.829C>T (p.Pro277Ser)
c.481C>T (p.Pro161Ser)
c.838C>T (p.Pro280Ser)
c.544C>T (p.Pro182Ser)
n.1024C>T
n.728C>T
c.880C>T (p.Pro294Ser)
c.883C>T (p.Pro295Ser)
c.844C>T (p.Pro282Ser)
c.979C>T (p.Pro327Ser)
n.991C>T
n.695C>T
1g.117147678G>CCA1030303VTCN1c.829C>G (p.Pro277Ala)
c.481C>G (p.Pro161Ala)
c.838C>G (p.Pro280Ala)
c.544C>G (p.Pro182Ala)
n.1024C>G
n.728C>G
c.880C>G (p.Pro294Ala)
c.883C>G (p.Pro295Ala)
c.844C>G (p.Pro282Ala)
c.979C>G (p.Pro327Ala)
n.991C>G
n.695C>G
 dbSNP ExAC gnomAD v4
1g.117147678G=CA1144046077VTCN1c.829C= (p.Pro277=)
c.481C= (p.Pro161=)
c.838C= (p.Pro280=)
c.544C= (p.Pro182=)
n.1024C=
n.728C=
c.880C= (p.Pro294=)
c.883C= (p.Pro295=)
c.844C= (p.Pro282=)
c.979C= (p.Pro327=)
n.991C=
n.695C=
1g.117147678G>TCA341808059VTCN1c.829C>A (p.Pro277Thr)
c.481C>A (p.Pro161Thr)
c.838C>A (p.Pro280Thr)
c.544C>A (p.Pro182Thr)
n.1024C>A
n.728C>A
c.880C>A (p.Pro294Thr)
c.883C>A (p.Pro295Thr)
c.844C>A (p.Pro282Thr)
c.979C>A (p.Pro327Thr)
n.991C>A
n.695C>A
1g.117147679G>ACA419932335VTCN1c.828C>T (p.Ser276=)
c.480C>T (p.Ser160=)
c.837C>T (p.Ser279=)
c.543C>T (p.Ser181=)
n.1023C>T
n.727C>T
c.879C>T (p.Ser293=)
c.882C>T (p.Ser294=)
c.843C>T (p.Ser281=)
c.978C>T (p.Ser326=)
n.990C>T
n.694C>T
 dbSNP gnomAD v2 gnomAD v4
1g.117147679G>CCA341808062VTCN1c.828C>G (p.Ser276Arg)
c.480C>G (p.Ser160Arg)
c.837C>G (p.Ser279Arg)
c.543C>G (p.Ser181Arg)
n.1023C>G
n.727C>G
c.879C>G (p.Ser293Arg)
c.882C>G (p.Ser294Arg)
c.843C>G (p.Ser281Arg)
c.978C>G (p.Ser326Arg)
n.990C>G
n.694C>G
 gnomAD v4
1g.117147679G=CA1191316895VTCN1c.828C= (p.Ser276=)
c.480C= (p.Ser160=)
c.837C= (p.Ser279=)
c.543C= (p.Ser181=)
n.1023C=
n.727C=
c.879C= (p.Ser293=)
c.882C= (p.Ser294=)
c.843C= (p.Ser281=)
c.978C= (p.Ser326=)
n.990C=
n.694C=
1g.117147679G>TCA341808064VTCN1c.828C>A (p.Ser276Arg)
c.480C>A (p.Ser160Arg)
c.837C>A (p.Ser279Arg)
c.543C>A (p.Ser181Arg)
n.1023C>A
n.727C>A
c.879C>A (p.Ser293Arg)
c.882C>A (p.Ser294Arg)
c.843C>A (p.Ser281Arg)
c.978C>A (p.Ser326Arg)
n.990C>A
n.694C>A
1g.117147680C>ACA341808065VTCN1c.827G>T (p.Ser276Ile)
c.479G>T (p.Ser160Ile)
c.836G>T (p.Ser279Ile)
c.542G>T (p.Ser181Ile)
n.1022G>T
n.726G>T
c.878G>T (p.Ser293Ile)
c.881G>T (p.Ser294Ile)
c.842G>T (p.Ser281Ile)
c.977G>T (p.Ser326Ile)
n.989G>T
n.693G>T
1g.117147680C>GCA341808066VTCN1c.827G>C (p.Ser276Thr)
c.479G>C (p.Ser160Thr)
c.836G>C (p.Ser279Thr)
c.542G>C (p.Ser181Thr)
n.1022G>C
n.726G>C
c.878G>C (p.Ser293Thr)
c.881G>C (p.Ser294Thr)
c.842G>C (p.Ser281Thr)
c.977G>C (p.Ser326Thr)
n.989G>C
n.693G>C
1g.117147680C>TCA341808067VTCN1c.827G>A (p.Ser276Asn)
c.479G>A (p.Ser160Asn)
c.836G>A (p.Ser279Asn)
c.542G>A (p.Ser181Asn)
n.1022G>A
n.726G>A
c.878G>A (p.Ser293Asn)
c.881G>A (p.Ser294Asn)
c.842G>A (p.Ser281Asn)
c.977G>A (p.Ser326Asn)
n.989G>A
n.693G>A
 gnomAD v4
1g.117147681T>ACA341808072VTCN1c.826A>T (p.Ser276Cys)
c.478A>T (p.Ser160Cys)
c.835A>T (p.Ser279Cys)
c.541A>T (p.Ser181Cys)
n.1021A>T
n.725A>T
c.877A>T (p.Ser293Cys)
c.880A>T (p.Ser294Cys)
c.841A>T (p.Ser281Cys)
c.976A>T (p.Ser326Cys)
n.988A>T
n.692A>T
1g.117147681T>CCA341808071VTCN1c.826A>G (p.Ser276Gly)
c.478A>G (p.Ser160Gly)
c.835A>G (p.Ser279Gly)
c.541A>G (p.Ser181Gly)
n.1021A>G
n.725A>G
c.877A>G (p.Ser293Gly)
c.880A>G (p.Ser294Gly)
c.841A>G (p.Ser281Gly)
c.976A>G (p.Ser326Gly)
n.988A>G
n.692A>G
 gnomAD v4
1g.117147681T>GCA341808069VTCN1c.826A>C (p.Ser276Arg)
c.478A>C (p.Ser160Arg)
c.835A>C (p.Ser279Arg)
c.541A>C (p.Ser181Arg)
n.1021A>C
n.725A>C
c.877A>C (p.Ser293Arg)
c.880A>C (p.Ser294Arg)
c.841A>C (p.Ser281Arg)
c.976A>C (p.Ser326Arg)
n.988A>C
n.692A>C
1g.117147682G>ACA419932336VTCN1c.825C>T (p.Leu275=)
c.477C>T (p.Leu159=)
c.834C>T (p.Leu278=)
c.540C>T (p.Leu180=)
n.1020C>T
n.724C>T
c.876C>T (p.Leu292=)
c.879C>T (p.Leu293=)
c.840C>T (p.Leu280=)
c.975C>T (p.Leu325=)
n.987C>T
n.691C>T
1g.117147682G>CCA419932337VTCN1c.825C>G (p.Leu275=)
c.477C>G (p.Leu159=)
c.834C>G (p.Leu278=)
c.540C>G (p.Leu180=)
n.1020C>G
n.724C>G
c.876C>G (p.Leu292=)
c.879C>G (p.Leu293=)
c.840C>G (p.Leu280=)
c.975C>G (p.Leu325=)
n.987C>G
n.691C>G
1g.117147682G>TCA419932338VTCN1c.825C>A (p.Leu275=)
c.477C>A (p.Leu159=)
c.834C>A (p.Leu278=)
c.540C>A (p.Leu180=)
n.1020C>A
n.724C>A
c.876C>A (p.Leu292=)
c.879C>A (p.Leu293=)
c.840C>A (p.Leu280=)
c.975C>A (p.Leu325=)
n.987C>A
n.691C>A
 COSMIC COSMIC
1g.117147683A>CCA341808074VTCN1c.824T>G (p.Leu275Arg)
c.476T>G (p.Leu159Arg)
c.833T>G (p.Leu278Arg)
c.539T>G (p.Leu180Arg)
n.1019T>G
n.723T>G
c.875T>G (p.Leu292Arg)
c.878T>G (p.Leu293Arg)
c.839T>G (p.Leu280Arg)
c.974T>G (p.Leu325Arg)
n.986T>G
n.690T>G
1g.117147683A>GCA341808075VTCN1c.824T>C (p.Leu275Pro)
c.476T>C (p.Leu159Pro)
c.833T>C (p.Leu278Pro)
c.539T>C (p.Leu180Pro)
n.1019T>C
n.723T>C
c.875T>C (p.Leu292Pro)
c.878T>C (p.Leu293Pro)
c.839T>C (p.Leu280Pro)
c.974T>C (p.Leu325Pro)
n.986T>C
n.690T>C
 dbSNP
1g.117147683A>TCA341808077VTCN1c.824T>A (p.Leu275His)
c.476T>A (p.Leu159His)
c.833T>A (p.Leu278His)
c.539T>A (p.Leu180His)
n.1019T>A
n.723T>A
c.875T>A (p.Leu292His)
c.878T>A (p.Leu293His)
c.839T>A (p.Leu280His)
c.974T>A (p.Leu325His)
n.986T>A
n.690T>A
1g.117147684G>ACA341808079VTCN1c.823C>T (p.Leu275Phe)
c.475C>T (p.Leu159Phe)
c.832C>T (p.Leu278Phe)
c.538C>T (p.Leu180Phe)
n.1018C>T
n.722C>T
c.874C>T (p.Leu292Phe)
c.877C>T (p.Leu293Phe)
c.838C>T (p.Leu280Phe)
c.973C>T (p.Leu325Phe)
n.985C>T
n.689C>T
1g.117147684G>CCA341808080VTCN1c.823C>G (p.Leu275Val)
c.475C>G (p.Leu159Val)
c.832C>G (p.Leu278Val)
c.538C>G (p.Leu180Val)
n.1018C>G
n.722C>G
c.874C>G (p.Leu292Val)
c.877C>G (p.Leu293Val)
c.838C>G (p.Leu280Val)
c.973C>G (p.Leu325Val)
n.985C>G
n.689C>G
1g.117147684G>TCA341808082VTCN1c.823C>A (p.Leu275Ile)
c.475C>A (p.Leu159Ile)
c.832C>A (p.Leu278Ile)
c.538C>A (p.Leu180Ile)
n.1018C>A
n.722C>A
c.874C>A (p.Leu292Ile)
c.877C>A (p.Leu293Ile)
c.838C>A (p.Leu280Ile)
c.973C>A (p.Leu325Ile)
n.985C>A
n.689C>A
1g.117147685A>CCA419932339VTCN1c.822T>G (p.Pro274=)
c.474T>G (p.Pro158=)
c.831T>G (p.Pro277=)
c.537T>G (p.Pro179=)
n.1017T>G
n.721T>G
c.873T>G (p.Pro291=)
c.876T>G (p.Pro292=)
c.837T>G (p.Pro279=)
c.972T>G (p.Pro324=)
n.984T>G
n.688T>G
1g.117147685A>GCA419932341VTCN1c.822T>C (p.Pro274=)
c.474T>C (p.Pro158=)
c.831T>C (p.Pro277=)
c.537T>C (p.Pro179=)
n.1017T>C
n.721T>C
c.873T>C (p.Pro291=)
c.876T>C (p.Pro292=)
c.837T>C (p.Pro279=)
c.972T>C (p.Pro324=)
n.984T>C
n.688T>C
1g.117147685A>TCA419932342VTCN1c.822T>A (p.Pro274=)
c.474T>A (p.Pro158=)
c.831T>A (p.Pro277=)
c.537T>A (p.Pro179=)
n.1017T>A
n.721T>A
c.873T>A (p.Pro291=)
c.876T>A (p.Pro292=)
c.837T>A (p.Pro279=)
c.972T>A (p.Pro324=)
n.984T>A
n.688T>A
1g.117147686G>ACA341808084VTCN1c.821C>T (p.Pro274Leu)
c.473C>T (p.Pro158Leu)
c.830C>T (p.Pro277Leu)
c.536C>T (p.Pro179Leu)
n.1016C>T
n.720C>T
c.872C>T (p.Pro291Leu)
c.875C>T (p.Pro292Leu)
c.836C>T (p.Pro279Leu)
c.971C>T (p.Pro324Leu)
n.983C>T
n.687C>T
1g.117147686G>CCA341808087VTCN1c.821C>G (p.Pro274Arg)
c.473C>G (p.Pro158Arg)
c.830C>G (p.Pro277Arg)
c.536C>G (p.Pro179Arg)
n.1016C>G
n.720C>G
c.872C>G (p.Pro291Arg)
c.875C>G (p.Pro292Arg)
c.836C>G (p.Pro279Arg)
c.971C>G (p.Pro324Arg)
n.983C>G
n.687C>G
1g.117147686G>TCA341808086VTCN1c.821C>A (p.Pro274His)
c.473C>A (p.Pro158His)
c.830C>A (p.Pro277His)
c.536C>A (p.Pro179His)
n.1016C>A
n.720C>A
c.872C>A (p.Pro291His)
c.875C>A (p.Pro292His)
c.836C>A (p.Pro279His)
c.971C>A (p.Pro324His)
n.983C>A
n.687C>A
1g.117147687G>ACA341808089VTCN1c.820C>T (p.Pro274Ser)
c.472C>T (p.Pro158Ser)
c.829C>T (p.Pro277Ser)
c.535C>T (p.Pro179Ser)
n.1015C>T
n.719C>T
c.871C>T (p.Pro291Ser)
c.874C>T (p.Pro292Ser)
c.835C>T (p.Pro279Ser)
c.970C>T (p.Pro324Ser)
n.982C>T
n.686C>T
1g.117147687G>CCA341808090VTCN1c.820C>G (p.Pro274Ala)
c.472C>G (p.Pro158Ala)
c.829C>G (p.Pro277Ala)
c.535C>G (p.Pro179Ala)
n.1015C>G
n.719C>G
c.871C>G (p.Pro291Ala)
c.874C>G (p.Pro292Ala)
c.835C>G (p.Pro279Ala)
c.970C>G (p.Pro324Ala)
n.982C>G
n.686C>G
1g.117147687G>TCA341808092VTCN1c.820C>A (p.Pro274Thr)
c.472C>A (p.Pro158Thr)
c.829C>A (p.Pro277Thr)
c.535C>A (p.Pro179Thr)
n.1015C>A
n.719C>A
c.871C>A (p.Pro291Thr)
c.874C>A (p.Pro292Thr)
c.835C>A (p.Pro279Thr)
c.970C>A (p.Pro324Thr)
n.982C>A
n.686C>A
1g.117147688C>ACA419932343VTCN1c.819G>T (p.Leu273=)
c.471G>T (p.Leu157=)
c.828G>T (p.Leu276=)
c.534G>T (p.Leu178=)
n.1014G>T
n.718G>T
c.870G>T (p.Leu290=)
c.873G>T (p.Leu291=)
c.834G>T (p.Leu278=)
c.969G>T (p.Leu323=)
n.981G>T
n.685G>T
1g.117147688C=CA1191316896VTCN1c.819G= (p.Leu273=)
c.471G= (p.Leu157=)
c.828G= (p.Leu276=)
c.534G= (p.Leu178=)
n.1014G=
n.718G=
c.870G= (p.Leu290=)
c.873G= (p.Leu291=)
c.834G= (p.Leu278=)
c.969G= (p.Leu323=)
n.981G=
n.685G=
1g.117147688C>GCA1030304VTCN1c.819G>C (p.Leu273=)
c.471G>C (p.Leu157=)
c.828G>C (p.Leu276=)
c.534G>C (p.Leu178=)
n.1014G>C
n.718G>C
c.870G>C (p.Leu290=)
c.873G>C (p.Leu291=)
c.834G>C (p.Leu278=)
c.969G>C (p.Leu323=)
n.981G>C
n.685G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.117147688C>TCA419932346VTCN1c.819G>A (p.Leu273=)
c.471G>A (p.Leu157=)
c.828G>A (p.Leu276=)
c.534G>A (p.Leu178=)
n.1014G>A
n.718G>A
c.870G>A (p.Leu290=)
c.873G>A (p.Leu291=)
c.834G>A (p.Leu278=)
c.969G>A (p.Leu323=)
n.981G>A
n.685G>A
 gnomAD v4
1g.117147689A>CCA341808094VTCN1c.818T>G (p.Leu273Arg)
c.470T>G (p.Leu157Arg)
c.827T>G (p.Leu276Arg)
c.533T>G (p.Leu178Arg)
n.1013T>G
n.717T>G
c.869T>G (p.Leu290Arg)
c.872T>G (p.Leu291Arg)
c.833T>G (p.Leu278Arg)
c.968T>G (p.Leu323Arg)
n.980T>G
n.684T>G
1g.117147689A>GCA341808096VTCN1c.818T>C (p.Leu273Pro)
c.470T>C (p.Leu157Pro)
c.827T>C (p.Leu276Pro)
c.533T>C (p.Leu178Pro)
n.1013T>C
n.717T>C
c.869T>C (p.Leu290Pro)
c.872T>C (p.Leu291Pro)
c.833T>C (p.Leu278Pro)
c.968T>C (p.Leu323Pro)
n.980T>C
n.684T>C
1g.117147689A>TCA341808097VTCN1c.818T>A (p.Leu273Gln)
c.470T>A (p.Leu157Gln)
c.827T>A (p.Leu276Gln)
c.533T>A (p.Leu178Gln)
n.1013T>A
n.717T>A
c.869T>A (p.Leu290Gln)
c.872T>A (p.Leu291Gln)
c.833T>A (p.Leu278Gln)
c.968T>A (p.Leu323Gln)
n.980T>A
n.684T>A
1g.117147690G>ACA419932348VTCN1c.817C>T (p.Leu273=)
c.469C>T (p.Leu157=)
c.826C>T (p.Leu276=)
c.532C>T (p.Leu178=)
n.1012C>T
n.716C>T
c.868C>T (p.Leu290=)
c.871C>T (p.Leu291=)
c.832C>T (p.Leu278=)
c.967C>T (p.Leu323=)
n.979C>T
n.683C>T
1g.117147690G>CCA341808099VTCN1c.817C>G (p.Leu273Val)
c.469C>G (p.Leu157Val)
c.826C>G (p.Leu276Val)
c.532C>G (p.Leu178Val)
n.1012C>G
n.716C>G
c.868C>G (p.Leu290Val)
c.871C>G (p.Leu291Val)
c.832C>G (p.Leu278Val)
c.967C>G (p.Leu323Val)
n.979C>G
n.683C>G
 gnomAD v4
1g.117147690G>TCA341808100VTCN1c.817C>A (p.Leu273Met)
c.469C>A (p.Leu157Met)
c.826C>A (p.Leu276Met)
c.532C>A (p.Leu178Met)
n.1012C>A
n.716C>A
c.868C>A (p.Leu290Met)
c.871C>A (p.Leu291Met)
c.832C>A (p.Leu278Met)
c.967C>A (p.Leu323Met)
n.979C>A
n.683C>A
1g.117147691A>CCA419932351VTCN1c.816T>G (p.Leu272=)
c.468T>G (p.Leu156=)
c.825T>G (p.Leu275=)
c.531T>G (p.Leu177=)
n.1011T>G
n.715T>G
c.867T>G (p.Leu289=)
c.870T>G (p.Leu290=)
c.831T>G (p.Leu277=)
c.966T>G (p.Leu322=)
n.978T>G
n.682T>G
 gnomAD v4
1g.117147691A>GCA419932349VTCN1c.816T>C (p.Leu272=)
c.468T>C (p.Leu156=)
c.825T>C (p.Leu275=)
c.531T>C (p.Leu177=)
n.1011T>C
n.715T>C
c.867T>C (p.Leu289=)
c.870T>C (p.Leu290=)
c.831T>C (p.Leu277=)
c.966T>C (p.Leu322=)
n.978T>C
n.682T>C
1g.117147691A>TCA419932350VTCN1c.816T>A (p.Leu272=)
c.468T>A (p.Leu156=)
c.825T>A (p.Leu275=)
c.531T>A (p.Leu177=)
n.1011T>A
n.715T>A
c.867T>A (p.Leu289=)
c.870T>A (p.Leu290=)
c.831T>A (p.Leu277=)
c.966T>A (p.Leu322=)
n.978T>A
n.682T>A
 dbSNP
1g.117147692A>CCA341808102VTCN1c.815T>G (p.Leu272Arg)
c.467T>G (p.Leu156Arg)
c.824T>G (p.Leu275Arg)
c.530T>G (p.Leu177Arg)
n.1010T>G
n.714T>G
c.866T>G (p.Leu289Arg)
c.869T>G (p.Leu290Arg)
c.830T>G (p.Leu277Arg)
c.965T>G (p.Leu322Arg)
n.977T>G
n.681T>G
 gnomAD v4
1g.117147692A>GCA341808104VTCN1c.815T>C (p.Leu272Pro)
c.467T>C (p.Leu156Pro)
c.824T>C (p.Leu275Pro)
c.530T>C (p.Leu177Pro)
n.1010T>C
n.714T>C
c.866T>C (p.Leu289Pro)
c.869T>C (p.Leu290Pro)
c.830T>C (p.Leu277Pro)
c.965T>C (p.Leu322Pro)
n.977T>C
n.681T>C
1g.117147692A>TCA341808105VTCN1c.815T>A (p.Leu272His)
c.467T>A (p.Leu156His)
c.824T>A (p.Leu275His)
c.530T>A (p.Leu177His)
n.1010T>A
n.714T>A
c.866T>A (p.Leu289His)
c.869T>A (p.Leu290His)
c.830T>A (p.Leu277His)
c.965T>A (p.Leu322His)
n.977T>A
n.681T>A
1g.117147693G>ACA341808109VTCN1c.814C>T (p.Leu272Phe)
c.466C>T (p.Leu156Phe)
c.823C>T (p.Leu275Phe)
c.529C>T (p.Leu177Phe)
n.1009C>T
n.713C>T
c.865C>T (p.Leu289Phe)
c.868C>T (p.Leu290Phe)
c.829C>T (p.Leu277Phe)
c.964C>T (p.Leu322Phe)
n.976C>T
n.680C>T
 dbSNP gnomAD v3 gnomAD v4
1g.117147693G>CCA341808111VTCN1c.814C>G (p.Leu272Val)
c.466C>G (p.Leu156Val)
c.823C>G (p.Leu275Val)
c.529C>G (p.Leu177Val)
n.1009C>G
n.713C>G
c.865C>G (p.Leu289Val)
c.868C>G (p.Leu290Val)
c.829C>G (p.Leu277Val)
c.964C>G (p.Leu322Val)
n.976C>G
n.680C>G
1g.117147693G=CA1191316897VTCN1c.814C= (p.Leu272=)
c.466C= (p.Leu156=)
c.823C= (p.Leu275=)
c.529C= (p.Leu177=)
n.1009C=
n.713C=
c.865C= (p.Leu289=)
c.868C= (p.Leu290=)
c.829C= (p.Leu277=)
c.964C= (p.Leu322=)
n.976C=
n.680C=
1g.117147693G>TCA341808107VTCN1c.814C>A (p.Leu272Ile)
c.466C>A (p.Leu156Ile)
c.823C>A (p.Leu275Ile)
c.529C>A (p.Leu177Ile)
n.1009C>A
n.713C>A
c.865C>A (p.Leu289Ile)
c.868C>A (p.Leu290Ile)
c.829C>A (p.Leu277Ile)
c.964C>A (p.Leu322Ile)
n.976C>A
n.680C>A
1g.117147694T>ACA419932353VTCN1c.813A>T (p.Ala271=)
c.465A>T (p.Ala155=)
c.822A>T (p.Ala274=)
c.528A>T (p.Ala176=)
n.1008A>T
n.712A>T
c.864A>T (p.Ala288=)
c.867A>T (p.Ala289=)
c.828A>T (p.Ala276=)
c.963A>T (p.Ala321=)
n.975A>T
n.679A>T
 dbSNP
1g.117147694T>CCA419932354VTCN1c.813A>G (p.Ala271=)
c.465A>G (p.Ala155=)
c.822A>G (p.Ala274=)
c.528A>G (p.Ala176=)
n.1008A>G
n.712A>G
c.864A>G (p.Ala288=)
c.867A>G (p.Ala289=)
c.828A>G (p.Ala276=)
c.963A>G (p.Ala321=)
n.975A>G
n.679A>G
1g.117147694T>GCA419932355VTCN1c.813A>C (p.Ala271=)
c.465A>C (p.Ala155=)
c.822A>C (p.Ala274=)
c.528A>C (p.Ala176=)
n.1008A>C
n.712A>C
c.864A>C (p.Ala288=)
c.867A>C (p.Ala289=)
c.828A>C (p.Ala276=)
c.963A>C (p.Ala321=)
n.975A>C
n.679A>C
 dbSNP
1g.117147695G>ACA341808114VTCN1c.812C>T (p.Ala271Val)
c.464C>T (p.Ala155Val)
c.821C>T (p.Ala274Val)
c.527C>T (p.Ala176Val)
n.1007C>T
n.711C>T
c.863C>T (p.Ala288Val)
c.866C>T (p.Ala289Val)
c.827C>T (p.Ala276Val)
c.962C>T (p.Ala321Val)
n.974C>T
n.678C>T
 dbSNP gnomAD v4
1g.117147695G>CCA341808112VTCN1c.812C>G (p.Ala271Gly)
c.464C>G (p.Ala155Gly)
c.821C>G (p.Ala274Gly)
c.527C>G (p.Ala176Gly)
n.1007C>G
n.711C>G
c.863C>G (p.Ala288Gly)
c.866C>G (p.Ala289Gly)
c.827C>G (p.Ala276Gly)
c.962C>G (p.Ala321Gly)
n.974C>G
n.678C>G
1g.117147695G=CA1191316898VTCN1c.812C= (p.Ala271=)
c.464C= (p.Ala155=)
c.821C= (p.Ala274=)
c.527C= (p.Ala176=)
n.1007C=
n.711C=
c.863C= (p.Ala288=)
c.866C= (p.Ala289=)
c.827C= (p.Ala276=)
c.962C= (p.Ala321=)
n.974C=
n.678C=
1g.117147695G>TCA341808115VTCN1c.812C>A (p.Ala271Glu)
c.464C>A (p.Ala155Glu)
c.821C>A (p.Ala274Glu)
c.527C>A (p.Ala176Glu)
n.1007C>A
n.711C>A
c.863C>A (p.Ala288Glu)
c.866C>A (p.Ala289Glu)
c.827C>A (p.Ala276Glu)
c.962C>A (p.Ala321Glu)
n.974C>A
n.678C>A
1g.117147696C>ACA341808117VTCN1c.811G>T (p.Ala271Ser)
c.463G>T (p.Ala155Ser)
c.820G>T (p.Ala274Ser)
c.526G>T (p.Ala176Ser)
n.1006G>T
n.710G>T
c.862G>T (p.Ala288Ser)
c.865G>T (p.Ala289Ser)
c.826G>T (p.Ala276Ser)
c.961G>T (p.Ala321Ser)
n.973G>T
n.677G>T
 gnomAD v4
1g.117147696C=CA1191316899VTCN1c.811G= (p.Ala271=)
c.463G= (p.Ala155=)
c.820G= (p.Ala274=)
c.526G= (p.Ala176=)
n.1006G=
n.710G=
c.862G= (p.Ala288=)
c.865G= (p.Ala289=)
c.826G= (p.Ala276=)
c.961G= (p.Ala321=)
n.973G=
n.677G=
1g.117147696C>GCA341808119VTCN1c.811G>C (p.Ala271Pro)
c.463G>C (p.Ala155Pro)
c.820G>C (p.Ala274Pro)
c.526G>C (p.Ala176Pro)
n.1006G>C
n.710G>C
c.862G>C (p.Ala288Pro)
c.865G>C (p.Ala289Pro)
c.826G>C (p.Ala276Pro)
c.961G>C (p.Ala321Pro)
n.973G>C
n.677G>C
1g.117147696C>TCA1030305VTCN1c.811G>A (p.Ala271Thr)
c.463G>A (p.Ala155Thr)
c.820G>A (p.Ala274Thr)
c.526G>A (p.Ala176Thr)
n.1006G>A
n.710G>A
c.862G>A (p.Ala288Thr)
c.865G>A (p.Ala289Thr)
c.826G>A (p.Ala276Thr)
c.961G>A (p.Ala321Thr)
n.973G>A
n.677G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.117147697C>ACA341808121VTCN1c.810G>T (p.Trp270Cys)
c.462G>T (p.Trp154Cys)
c.819G>T (p.Trp273Cys)
c.525G>T (p.Trp175Cys)
n.1005G>T
n.709G>T
c.861G>T (p.Trp287Cys)
c.864G>T (p.Trp288Cys)
c.825G>T (p.Trp275Cys)
c.960G>T (p.Trp320Cys)
n.972G>T
n.676G>T
1g.117147697C>GCA341808122VTCN1c.810G>C (p.Trp270Cys)
c.462G>C (p.Trp154Cys)
c.819G>C (p.Trp273Cys)
c.525G>C (p.Trp175Cys)
n.1005G>C
n.709G>C
c.861G>C (p.Trp287Cys)
c.864G>C (p.Trp288Cys)
c.825G>C (p.Trp275Cys)
c.960G>C (p.Trp320Cys)
n.972G>C
n.676G>C
1g.117147697C>TCA341808124VTCN1c.810G>A (p.Trp270Ter)
c.462G>A (p.Trp154Ter)
c.819G>A (p.Trp273Ter)
c.525G>A (p.Trp175Ter)
n.1005G>A
n.709G>A
c.861G>A (p.Trp287Ter)
c.864G>A (p.Trp288Ter)
c.825G>A (p.Trp275Ter)
c.960G>A (p.Trp320Ter)
n.972G>A
n.676G>A
1g.117147698C>ACA341808126VTCN1c.809G>T (p.Trp270Leu)
c.461G>T (p.Trp154Leu)
c.818G>T (p.Trp273Leu)
c.524G>T (p.Trp175Leu)
n.1004G>T
n.708G>T
c.860G>T (p.Trp287Leu)
c.863G>T (p.Trp288Leu)
c.824G>T (p.Trp275Leu)
c.959G>T (p.Trp320Leu)
n.971G>T
n.675G>T
1g.117147698C>GCA341808128VTCN1c.809G>C (p.Trp270Ser)
c.461G>C (p.Trp154Ser)
c.818G>C (p.Trp273Ser)
c.524G>C (p.Trp175Ser)
n.1004G>C
n.708G>C
c.860G>C (p.Trp287Ser)
c.863G>C (p.Trp288Ser)
c.824G>C (p.Trp275Ser)
c.959G>C (p.Trp320Ser)
n.971G>C
n.675G>C
1g.117147698C>TCA341808130VTCN1c.809G>A (p.Trp270Ter)
c.461G>A (p.Trp154Ter)
c.818G>A (p.Trp273Ter)
c.524G>A (p.Trp175Ter)
n.1004G>A
n.708G>A
c.860G>A (p.Trp287Ter)
c.863G>A (p.Trp288Ter)
c.824G>A (p.Trp275Ter)
c.959G>A (p.Trp320Ter)
n.971G>A
n.675G>A
1g.117147699A>CCA341808132VTCN1c.808T>G (p.Trp270Gly)
c.460T>G (p.Trp154Gly)
c.817T>G (p.Trp273Gly)
c.523T>G (p.Trp175Gly)
n.1003T>G
n.707T>G
c.859T>G (p.Trp287Gly)
c.862T>G (p.Trp288Gly)
c.823T>G (p.Trp275Gly)
c.958T>G (p.Trp320Gly)
n.970T>G
n.674T>G
1g.117147699A>GCA341808134VTCN1c.808T>C (p.Trp270Arg)
c.460T>C (p.Trp154Arg)
c.817T>C (p.Trp273Arg)
c.523T>C (p.Trp175Arg)
n.1003T>C
n.707T>C
c.859T>C (p.Trp287Arg)
c.862T>C (p.Trp288Arg)
c.823T>C (p.Trp275Arg)
c.958T>C (p.Trp320Arg)
n.970T>C
n.674T>C
1g.117147699A>TCA341808136VTCN1c.808T>A (p.Trp270Arg)
c.460T>A (p.Trp154Arg)
c.817T>A (p.Trp273Arg)
c.523T>A (p.Trp175Arg)
n.1003T>A
n.707T>A
c.859T>A (p.Trp287Arg)
c.862T>A (p.Trp288Arg)
c.823T>A (p.Trp275Arg)
c.958T>A (p.Trp320Arg)
n.970T>A
n.674T>A
1g.117147700G>ACA419932359VTCN1c.807C>T (p.Ser269=)
c.459C>T (p.Ser153=)
c.816C>T (p.Ser272=)
c.522C>T (p.Ser174=)
n.1002C>T
n.706C>T
c.858C>T (p.Ser286=)
c.861C>T (p.Ser287=)
c.822C>T (p.Ser274=)
c.957C>T (p.Ser319=)
n.969C>T
n.673C>T
 dbSNP
1g.117147700G>CCA341808138VTCN1c.807C>G (p.Ser269Arg)
c.459C>G (p.Ser153Arg)
c.816C>G (p.Ser272Arg)
c.522C>G (p.Ser174Arg)
n.1002C>G
n.706C>G
c.858C>G (p.Ser286Arg)
c.861C>G (p.Ser287Arg)
c.822C>G (p.Ser274Arg)
c.957C>G (p.Ser319Arg)
n.969C>G
n.673C>G
1g.117147700G>TCA341808139VTCN1c.807C>A (p.Ser269Arg)
c.459C>A (p.Ser153Arg)
c.816C>A (p.Ser272Arg)
c.522C>A (p.Ser174Arg)
n.1002C>A
n.706C>A
c.858C>A (p.Ser286Arg)
c.861C>A (p.Ser287Arg)
c.822C>A (p.Ser274Arg)
c.957C>A (p.Ser319Arg)
n.969C>A
n.673C>A
1g.117147701C>ACA1030306VTCN1c.806G>T (p.Ser269Ile)
c.458G>T (p.Ser153Ile)
c.815G>T (p.Ser272Ile)
c.521G>T (p.Ser174Ile)
n.1001G>T
n.705G>T
c.857G>T (p.Ser286Ile)
c.860G>T (p.Ser287Ile)
c.821G>T (p.Ser274Ile)
c.956G>T (p.Ser319Ile)
n.968G>T
n.672G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.117147701C=CA1191316900VTCN1c.806G= (p.Ser269=)
c.458G= (p.Ser153=)
c.815G= (p.Ser272=)
c.521G= (p.Ser174=)
n.1001G=
n.705G=
c.857G= (p.Ser286=)
c.860G= (p.Ser287=)
c.821G= (p.Ser274=)
c.956G= (p.Ser319=)
n.968G=
n.672G=
1g.117147701C>GCA341808143VTCN1c.806G>C (p.Ser269Thr)
c.458G>C (p.Ser153Thr)
c.815G>C (p.Ser272Thr)
c.521G>C (p.Ser174Thr)
n.1001G>C
n.705G>C
c.857G>C (p.Ser286Thr)
c.860G>C (p.Ser287Thr)
c.821G>C (p.Ser274Thr)
c.956G>C (p.Ser319Thr)
n.968G>C
n.672G>C
 dbSNP gnomAD v2 gnomAD v4
1g.117147701C>TCA341808141VTCN1c.806G>A (p.Ser269Asn)
c.458G>A (p.Ser153Asn)
c.815G>A (p.Ser272Asn)
c.521G>A (p.Ser174Asn)
n.1001G>A
n.705G>A
c.857G>A (p.Ser286Asn)
c.860G>A (p.Ser287Asn)
c.821G>A (p.Ser274Asn)
c.956G>A (p.Ser319Asn)
n.968G>A
n.672G>A
 dbSNP
1g.117147702T>ACA341808147VTCN1c.805A>T (p.Ser269Cys)
c.457A>T (p.Ser153Cys)
c.814A>T (p.Ser272Cys)
c.520A>T (p.Ser174Cys)
n.1000A>T
n.704A>T
c.856A>T (p.Ser286Cys)
c.859A>T (p.Ser287Cys)
c.820A>T (p.Ser274Cys)
c.955A>T (p.Ser319Cys)
n.967A>T
n.671A>T
1g.117147702T>CCA341808149VTCN1c.805A>G (p.Ser269Gly)
c.457A>G (p.Ser153Gly)
c.814A>G (p.Ser272Gly)
c.520A>G (p.Ser174Gly)
n.1000A>G
n.704A>G
c.856A>G (p.Ser286Gly)
c.859A>G (p.Ser287Gly)
c.820A>G (p.Ser274Gly)
c.955A>G (p.Ser319Gly)
n.967A>G
n.671A>G
 dbSNP
1g.117147702T>GCA341808151VTCN1c.805A>C (p.Ser269Arg)
c.457A>C (p.Ser153Arg)
c.814A>C (p.Ser272Arg)
c.520A>C (p.Ser174Arg)
n.1000A>C
n.704A>C
c.856A>C (p.Ser286Arg)
c.859A>C (p.Ser287Arg)
c.820A>C (p.Ser274Arg)
c.955A>C (p.Ser319Arg)
n.967A>C
n.671A>C
1g.117147702T=CA1191316901VTCN1c.805A= (p.Ser269=)
c.457A= (p.Ser153=)
c.814A= (p.Ser272=)
c.520A= (p.Ser174=)
n.1000A=
n.704A=
c.856A= (p.Ser286=)
c.859A= (p.Ser287=)
c.820A= (p.Ser274=)
c.955A= (p.Ser319=)
n.967A=
n.671A=
1g.117147703G>ACA419932362VTCN1c.804C>T (p.Ile268=)
c.456C>T (p.Ile152=)
c.813C>T (p.Ile271=)
c.519C>T (p.Ile173=)
n.999C>T
n.703C>T
c.855C>T (p.Ile285=)
c.858C>T (p.Ile286=)
c.819C>T (p.Ile273=)
c.954C>T (p.Ile318=)
n.966C>T
n.670C>T
 COSMIC
1g.117147703G>CCA341808153VTCN1c.804C>G (p.Ile268Met)
c.456C>G (p.Ile152Met)
c.813C>G (p.Ile271Met)
c.519C>G (p.Ile173Met)
n.999C>G
n.703C>G
c.855C>G (p.Ile285Met)
c.858C>G (p.Ile286Met)
c.819C>G (p.Ile273Met)
c.954C>G (p.Ile318Met)
n.966C>G
n.670C>G
1g.117147703G>TCA419932363VTCN1c.804C>A (p.Ile268=)
c.456C>A (p.Ile152=)
c.813C>A (p.Ile271=)
c.519C>A (p.Ile173=)
n.999C>A
n.703C>A
c.855C>A (p.Ile285=)
c.858C>A (p.Ile286=)
c.819C>A (p.Ile273=)
c.954C>A (p.Ile318=)
n.966C>A
n.670C>A
 gnomAD v4
1g.117147704A>CCA341808155VTCN1c.803T>G (p.Ile268Ser)
c.455T>G (p.Ile152Ser)
c.812T>G (p.Ile271Ser)
c.518T>G (p.Ile173Ser)
n.998T>G
n.702T>G
c.854T>G (p.Ile285Ser)
c.857T>G (p.Ile286Ser)
c.818T>G (p.Ile273Ser)
c.953T>G (p.Ile318Ser)
n.965T>G
n.669T>G
1g.117147704A>GCA341808157VTCN1c.803T>C (p.Ile268Thr)
c.455T>C (p.Ile152Thr)
c.812T>C (p.Ile271Thr)
c.518T>C (p.Ile173Thr)
n.998T>C
n.702T>C
c.854T>C (p.Ile285Thr)
c.857T>C (p.Ile286Thr)
c.818T>C (p.Ile273Thr)
c.953T>C (p.Ile318Thr)
n.965T>C
n.669T>C
1g.117147704A>TCA341808159VTCN1c.803T>A (p.Ile268Asn)
c.455T>A (p.Ile152Asn)
c.812T>A (p.Ile271Asn)
c.518T>A (p.Ile173Asn)
n.998T>A
n.702T>A
c.854T>A (p.Ile285Asn)
c.857T>A (p.Ile286Asn)
c.818T>A (p.Ile273Asn)
c.953T>A (p.Ile318Asn)
n.965T>A
n.669T>A
1g.117147705T>ACA341808161VTCN1c.802A>T (p.Ile268Phe)
c.454A>T (p.Ile152Phe)
c.811A>T (p.Ile271Phe)
c.517A>T (p.Ile173Phe)
n.997A>T
n.701A>T
c.853A>T (p.Ile285Phe)
c.856A>T (p.Ile286Phe)
c.817A>T (p.Ile273Phe)
c.952A>T (p.Ile318Phe)
n.964A>T
n.668A>T
1g.117147705T>CCA341808163VTCN1c.802A>G (p.Ile268Val)
c.454A>G (p.Ile152Val)
c.811A>G (p.Ile271Val)
c.517A>G (p.Ile173Val)
n.997A>G
n.701A>G
c.853A>G (p.Ile285Val)
c.856A>G (p.Ile286Val)
c.817A>G (p.Ile273Val)
c.952A>G (p.Ile318Val)
n.964A>G
n.668A>G
1g.117147705T>GCA341808165VTCN1c.802A>C (p.Ile268Leu)
c.454A>C (p.Ile152Leu)
c.811A>C (p.Ile271Leu)
c.517A>C (p.Ile173Leu)
n.997A>C
n.701A>C
c.853A>C (p.Ile285Leu)
c.856A>C (p.Ile286Leu)
c.817A>C (p.Ile273Leu)
c.952A>C (p.Ile318Leu)
n.964A>C
n.668A>C
1g.117147706G>ACA1030307VTCN1c.801C>T (p.Ala267=)
c.453C>T (p.Ala151=)
c.810C>T (p.Ala270=)
c.516C>T (p.Ala172=)
n.996C>T
n.700C>T
c.852C>T (p.Ala284=)
c.855C>T (p.Ala285=)
c.816C>T (p.Ala272=)
c.951C>T (p.Ala317=)
n.963C>T
n.667C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.117147706G>CCA419932365VTCN1c.801C>G (p.Ala267=)
c.453C>G (p.Ala151=)
c.810C>G (p.Ala270=)
c.516C>G (p.Ala172=)
n.996C>G
n.700C>G
c.852C>G (p.Ala284=)
c.855C>G (p.Ala285=)
c.816C>G (p.Ala272=)
c.951C>G (p.Ala317=)
n.963C>G
n.667C>G
1g.117147706G=CA1143657714VTCN1c.801C= (p.Ala267=)
c.453C= (p.Ala151=)
c.810C= (p.Ala270=)
c.516C= (p.Ala172=)
n.996C=
n.700C=
c.852C= (p.Ala284=)
c.855C= (p.Ala285=)
c.816C= (p.Ala272=)
c.951C= (p.Ala317=)
n.963C=
n.667C=
1g.117147706G>TCA419932366VTCN1c.801C>A (p.Ala267=)
c.453C>A (p.Ala151=)
c.810C>A (p.Ala270=)
c.516C>A (p.Ala172=)
n.996C>A
n.700C>A
c.852C>A (p.Ala284=)
c.855C>A (p.Ala285=)
c.816C>A (p.Ala272=)
c.951C>A (p.Ala317=)
n.963C>A
n.667C>A
 dbSNP
1g.117147707G>ACA341808171VTCN1c.800C>T (p.Ala267Val)
c.452C>T (p.Ala151Val)
c.809C>T (p.Ala270Val)
c.515C>T (p.Ala172Val)
n.995C>T
n.699C>T
c.851C>T (p.Ala284Val)
c.854C>T (p.Ala285Val)
c.815C>T (p.Ala272Val)
c.950C>T (p.Ala317Val)
n.962C>T
n.666C>T
 dbSNP
1g.117147707G>CCA341808169VTCN1c.800C>G (p.Ala267Gly)
c.452C>G (p.Ala151Gly)
c.809C>G (p.Ala270Gly)
c.515C>G (p.Ala172Gly)
n.995C>G
n.699C>G
c.851C>G (p.Ala284Gly)
c.854C>G (p.Ala285Gly)
c.815C>G (p.Ala272Gly)
c.950C>G (p.Ala317Gly)
n.962C>G
n.666C>G
 gnomAD v4
1g.117147707G>TCA341808168VTCN1c.800C>A (p.Ala267Asp)
c.452C>A (p.Ala151Asp)
c.809C>A (p.Ala270Asp)
c.515C>A (p.Ala172Asp)
n.995C>A
n.699C>A
c.851C>A (p.Ala284Asp)
c.854C>A (p.Ala285Asp)
c.815C>A (p.Ala272Asp)
c.950C>A (p.Ala317Asp)
n.962C>A
n.666C>A
1g.117147708C>ACA341808173VTCN1c.799G>T (p.Ala267Ser)
c.451G>T (p.Ala151Ser)
c.808G>T (p.Ala270Ser)
c.514G>T (p.Ala172Ser)
n.994G>T
n.698G>T
c.850G>T (p.Ala284Ser)
c.853G>T (p.Ala285Ser)
c.814G>T (p.Ala272Ser)
c.949G>T (p.Ala317Ser)
n.961G>T
n.665G>T
1g.117147708C>GCA341808175VTCN1c.799G>C (p.Ala267Pro)
c.451G>C (p.Ala151Pro)
c.808G>C (p.Ala270Pro)
c.514G>C (p.Ala172Pro)
n.994G>C
n.698G>C
c.850G>C (p.Ala284Pro)
c.853G>C (p.Ala285Pro)
c.814G>C (p.Ala272Pro)
c.949G>C (p.Ala317Pro)
n.961G>C
n.665G>C
1g.117147708C>TCA341808176VTCN1c.799G>A (p.Ala267Thr)
c.451G>A (p.Ala151Thr)
c.808G>A (p.Ala270Thr)
c.514G>A (p.Ala172Thr)
n.994G>A
n.698G>A
c.850G>A (p.Ala284Thr)
c.853G>A (p.Ala285Thr)
c.814G>A (p.Ala272Thr)
c.949G>A (p.Ala317Thr)
n.961G>A
n.665G>A
1g.117147709A>CCA341808179VTCN1c.798T>G (p.Phe266Leu)
c.450T>G (p.Phe150Leu)
c.807T>G (p.Phe269Leu)
c.513T>G (p.Phe171Leu)
n.993T>G
n.697T>G
c.849T>G (p.Phe283Leu)
c.852T>G (p.Phe284Leu)
c.813T>G (p.Phe271Leu)
c.948T>G (p.Phe316Leu)
n.960T>G
n.664T>G
1g.117147709A>GCA419932370VTCN1c.798T>C (p.Phe266=)
c.450T>C (p.Phe150=)
c.807T>C (p.Phe269=)
c.513T>C (p.Phe171=)
n.993T>C
n.697T>C
c.849T>C (p.Phe283=)
c.852T>C (p.Phe284=)
c.813T>C (p.Phe271=)
c.948T>C (p.Phe316=)
n.960T>C
n.664T>C
1g.117147709A>TCA341808181VTCN1c.798T>A (p.Phe266Leu)
c.450T>A (p.Phe150Leu)
c.807T>A (p.Phe269Leu)
c.513T>A (p.Phe171Leu)
n.993T>A
n.697T>A
c.849T>A (p.Phe283Leu)
c.852T>A (p.Phe284Leu)
c.813T>A (p.Phe271Leu)
c.948T>A (p.Phe316Leu)
n.960T>A
n.664T>A
1g.117147715_117147718delCA645521598VTCN1c.795_798del (p.Phe265LeufsTer14)
c.447_450del (p.Phe149LeufsTer14)
c.804_807del (p.Phe268LeufsTer14)
c.510_513del (p.Phe170LeufsTer14)
n.990_993del
n.694_697del
c.846_849del (p.Phe282LeufsTer14)
c.849_852del (p.Phe283LeufsTer14)
c.810_813del (p.Phe270LeufsTer14)
c.945_948del (p.Phe315LeufsTer14)
n.957_960del
n.661_664del
 COSMIC
1g.117147710A>CCA341808182VTCN1c.797T>G (p.Phe266Cys)
c.449T>G (p.Phe150Cys)
c.806T>G (p.Phe269Cys)
c.512T>G (p.Phe171Cys)
n.992T>G
n.696T>G
c.848T>G (p.Phe283Cys)
c.851T>G (p.Phe284Cys)
c.812T>G (p.Phe271Cys)
c.947T>G (p.Phe316Cys)
n.959T>G
n.663T>G
1g.117147710A>GCA341808183VTCN1c.797T>C (p.Phe266Ser)
c.449T>C (p.Phe150Ser)
c.806T>C (p.Phe269Ser)
c.512T>C (p.Phe171Ser)
n.992T>C
n.696T>C
c.848T>C (p.Phe283Ser)
c.851T>C (p.Phe284Ser)
c.812T>C (p.Phe271Ser)
c.947T>C (p.Phe316Ser)
n.959T>C
n.663T>C
1g.117147710A>TCA341808185VTCN1c.797T>A (p.Phe266Tyr)
c.449T>A (p.Phe150Tyr)
c.806T>A (p.Phe269Tyr)
c.512T>A (p.Phe171Tyr)
n.992T>A
n.696T>A
c.848T>A (p.Phe283Tyr)
c.851T>A (p.Phe284Tyr)
c.812T>A (p.Phe271Tyr)
c.947T>A (p.Phe316Tyr)
n.959T>A
n.663T>A
1g.117147711A>CCA341808187VTCN1c.796T>G (p.Phe266Val)
c.448T>G (p.Phe150Val)
c.805T>G (p.Phe269Val)
c.511T>G (p.Phe171Val)
n.991T>G
n.695T>G
c.847T>G (p.Phe283Val)
c.850T>G (p.Phe284Val)
c.811T>G (p.Phe271Val)
c.946T>G (p.Phe316Val)
n.958T>G
n.662T>G
1g.117147711A>GCA341808189VTCN1c.796T>C (p.Phe266Leu)
c.448T>C (p.Phe150Leu)
c.805T>C (p.Phe269Leu)
c.511T>C (p.Phe171Leu)
n.991T>C
n.695T>C
c.847T>C (p.Phe283Leu)
c.850T>C (p.Phe284Leu)
c.811T>C (p.Phe271Leu)
c.946T>C (p.Phe316Leu)
n.958T>C
n.662T>C
1g.117147711A>TCA341808191VTCN1c.796T>A (p.Phe266Ile)
c.448T>A (p.Phe150Ile)
c.805T>A (p.Phe269Ile)
c.511T>A (p.Phe171Ile)
n.991T>A
n.695T>A
c.847T>A (p.Phe283Ile)
c.850T>A (p.Phe284Ile)
c.811T>A (p.Phe271Ile)
c.946T>A (p.Phe316Ile)
n.958T>A
n.662T>A
1g.117147712G>ACA419932371VTCN1c.795C>T (p.Phe265=)
c.447C>T (p.Phe149=)
c.804C>T (p.Phe268=)
c.510C>T (p.Phe170=)
n.990C>T
n.694C>T
c.846C>T (p.Phe282=)
c.849C>T (p.Phe283=)
c.810C>T (p.Phe270=)
c.945C>T (p.Phe315=)
n.957C>T
n.661C>T
 dbSNP gnomAD v4
1g.117147712G>CCA341808193VTCN1c.795C>G (p.Phe265Leu)
c.447C>G (p.Phe149Leu)
c.804C>G (p.Phe268Leu)
c.510C>G (p.Phe170Leu)
n.990C>G
n.694C>G
c.846C>G (p.Phe282Leu)
c.849C>G (p.Phe283Leu)
c.810C>G (p.Phe270Leu)
c.945C>G (p.Phe315Leu)
n.957C>G
n.661C>G
1g.117147712G>TCA341808195VTCN1c.795C>A (p.Phe265Leu)
c.447C>A (p.Phe149Leu)
c.804C>A (p.Phe268Leu)
c.510C>A (p.Phe170Leu)
n.990C>A
n.694C>A
c.846C>A (p.Phe282Leu)
c.849C>A (p.Phe283Leu)
c.810C>A (p.Phe270Leu)
c.945C>A (p.Phe315Leu)
n.957C>A
n.661C>A
1g.117147713A>CCA341808197VTCN1c.794T>G (p.Phe265Cys)
c.446T>G (p.Phe149Cys)
c.803T>G (p.Phe268Cys)
c.509T>G (p.Phe170Cys)
n.989T>G
n.693T>G
c.845T>G (p.Phe282Cys)
c.848T>G (p.Phe283Cys)
c.809T>G (p.Phe270Cys)
c.944T>G (p.Phe315Cys)
n.956T>G
n.660T>G
1g.117147713A>GCA341808200VTCN1c.794T>C (p.Phe265Ser)
c.446T>C (p.Phe149Ser)
c.803T>C (p.Phe268Ser)
c.509T>C (p.Phe170Ser)
n.989T>C
n.693T>C
c.845T>C (p.Phe282Ser)
c.848T>C (p.Phe283Ser)
c.809T>C (p.Phe270Ser)
c.944T>C (p.Phe315Ser)
n.956T>C
n.660T>C
 gnomAD v4
1g.117147713A>TCA341808198VTCN1c.794T>A (p.Phe265Tyr)
c.446T>A (p.Phe149Tyr)
c.803T>A (p.Phe268Tyr)
c.509T>A (p.Phe170Tyr)
n.989T>A
n.693T>A
c.845T>A (p.Phe282Tyr)
c.848T>A (p.Phe283Tyr)
c.809T>A (p.Phe270Tyr)
c.944T>A (p.Phe315Tyr)
n.956T>A
n.660T>A
1g.117147713_117147716delinsAAAGCA1191316902VTCN1c.791_794delinsCTTT (p.Ser264=)
c.443_446delinsCTTT (p.Ser148=)
c.800_803delinsCTTT (p.Ser267=)
c.506_509delinsCTTT (p.Ser169=)
n.986_989delinsCTTT
n.690_693delinsCTTT
c.842_845delinsCTTT (p.Ser281=)
c.845_848delinsCTTT (p.Ser282=)
c.806_809delinsCTTT (p.Ser269=)
c.941_944delinsCTTT (p.Ser314=)
n.953_956delinsCTTT
n.657_660delinsCTTT
1g.117147714A>CCA341808202VTCN1c.793T>G (p.Phe265Val)
c.445T>G (p.Phe149Val)
c.802T>G (p.Phe268Val)
c.508T>G (p.Phe170Val)
n.988T>G
n.692T>G
c.844T>G (p.Phe282Val)
c.847T>G (p.Phe283Val)
c.808T>G (p.Phe270Val)
c.943T>G (p.Phe315Val)
n.955T>G
n.659T>G
1g.117147714A>GCA341808204VTCN1c.793T>C (p.Phe265Leu)
c.445T>C (p.Phe149Leu)
c.802T>C (p.Phe268Leu)
c.508T>C (p.Phe170Leu)
n.988T>C
n.692T>C
c.844T>C (p.Phe282Leu)
c.847T>C (p.Phe283Leu)
c.808T>C (p.Phe270Leu)
c.943T>C (p.Phe315Leu)
n.955T>C
n.659T>C
1g.117147714A>TCA341808206VTCN1c.793T>A (p.Phe265Ile)
c.445T>A (p.Phe149Ile)
c.802T>A (p.Phe268Ile)
c.508T>A (p.Phe170Ile)
n.988T>A
n.692T>A
c.844T>A (p.Phe282Ile)
c.847T>A (p.Phe283Ile)
c.808T>A (p.Phe270Ile)
c.943T>A (p.Phe315Ile)
n.955T>A
n.659T>A
1g.117147718_117147720delCA29758583VTCN1c.791_793del (p.Ser264del)
c.443_445del (p.Ser148del)
c.800_802del (p.Ser267del)
c.506_508del (p.Ser169del)
n.986_988del
n.690_692del
c.842_844del (p.Ser281del)
c.845_847del (p.Ser282del)
c.806_808del (p.Ser269del)
c.941_943del (p.Ser314del)
n.953_955del
n.657_659del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.117147715A=CA1143872163VTCN1c.792T= (p.Ser264=)
c.444T= (p.Ser148=)
c.801T= (p.Ser267=)
c.507T= (p.Ser169=)
n.987T=
n.691T=
c.843T= (p.Ser281=)
c.846T= (p.Ser282=)
c.807T= (p.Ser269=)
c.942T= (p.Ser314=)
n.954T=
n.658T=
1g.117147715A>CCA419932377VTCN1c.792T>G (p.Ser264=)
c.444T>G (p.Ser148=)
c.801T>G (p.Ser267=)
c.507T>G (p.Ser169=)
n.987T>G
n.691T>G
c.843T>G (p.Ser281=)
c.846T>G (p.Ser282=)
c.807T>G (p.Ser269=)
c.942T>G (p.Ser314=)
n.954T>G
n.658T>G
1g.117147715A>GCA1030308VTCN1c.792T>C (p.Ser264=)
c.444T>C (p.Ser148=)
c.801T>C (p.Ser267=)
c.507T>C (p.Ser169=)
n.987T>C
n.691T>C
c.843T>C (p.Ser281=)
c.846T>C (p.Ser282=)
c.807T>C (p.Ser269=)
c.942T>C (p.Ser314=)
n.954T>C
n.658T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.117147715A>TCA419932379VTCN1c.792T>A (p.Ser264=)
c.444T>A (p.Ser148=)
c.801T>A (p.Ser267=)
c.507T>A (p.Ser169=)
n.987T>A
n.691T>A
c.843T>A (p.Ser281=)
c.846T>A (p.Ser282=)
c.807T>A (p.Ser269=)
c.942T>A (p.Ser314=)
n.954T>A
n.658T>A
1g.117147716G>ACA341808210VTCN1c.791C>T (p.Ser264Phe)
c.443C>T (p.Ser148Phe)
c.800C>T (p.Ser267Phe)
c.506C>T (p.Ser169Phe)
n.986C>T
n.690C>T
c.842C>T (p.Ser281Phe)
c.845C>T (p.Ser282Phe)
c.806C>T (p.Ser269Phe)
c.941C>T (p.Ser314Phe)
n.953C>T
n.657C>T
1g.117147716G>CCA341808212VTCN1c.791C>G (p.Ser264Cys)
c.443C>G (p.Ser148Cys)
c.800C>G (p.Ser267Cys)
c.506C>G (p.Ser169Cys)
n.986C>G
n.690C>G
c.842C>G (p.Ser281Cys)
c.845C>G (p.Ser282Cys)
c.806C>G (p.Ser269Cys)
c.941C>G (p.Ser314Cys)
n.953C>G
n.657C>G
1g.117147716G>TCA341808213VTCN1c.791C>A (p.Ser264Tyr)
c.443C>A (p.Ser148Tyr)
c.800C>A (p.Ser267Tyr)
c.506C>A (p.Ser169Tyr)
n.986C>A
n.690C>A
c.842C>A (p.Ser281Tyr)
c.845C>A (p.Ser282Tyr)
c.806C>A (p.Ser269Tyr)
c.941C>A (p.Ser314Tyr)
n.953C>A
n.657C>A
1g.117147717A>CCA341808215VTCN1c.790T>G (p.Ser264Ala)
c.442T>G (p.Ser148Ala)
c.799T>G (p.Ser267Ala)
c.505T>G (p.Ser169Ala)
n.985T>G
n.689T>G
c.841T>G (p.Ser281Ala)
c.844T>G (p.Ser282Ala)
c.805T>G (p.Ser269Ala)
c.940T>G (p.Ser314Ala)
n.952T>G
n.656T>G
1g.117147717A>GCA341808217VTCN1c.790T>C (p.Ser264Pro)
c.442T>C (p.Ser148Pro)
c.799T>C (p.Ser267Pro)
c.505T>C (p.Ser169Pro)
n.985T>C
n.689T>C
c.841T>C (p.Ser281Pro)
c.844T>C (p.Ser282Pro)
c.805T>C (p.Ser269Pro)
c.940T>C (p.Ser314Pro)
n.952T>C
n.656T>C
1g.117147717A>TCA341808218VTCN1c.790T>A (p.Ser264Thr)
c.442T>A (p.Ser148Thr)
c.799T>A (p.Ser267Thr)
c.505T>A (p.Ser169Thr)
n.985T>A
n.689T>A
c.841T>A (p.Ser281Thr)
c.844T>A (p.Ser282Thr)
c.805T>A (p.Ser269Thr)
c.940T>A (p.Ser314Thr)
n.952T>A
n.656T>A
1g.117147718A>CCA419932383VTCN1c.789T>G (p.Ser263=)
c.441T>G (p.Ser147=)
c.798T>G (p.Ser266=)
c.504T>G (p.Ser168=)
n.984T>G
n.688T>G
c.840T>G (p.Ser280=)
c.843T>G (p.Ser281=)
c.804T>G (p.Ser268=)
c.939T>G (p.Ser313=)
n.951T>G
n.655T>G
1g.117147718A>GCA419932384VTCN1c.789T>C (p.Ser263=)
c.441T>C (p.Ser147=)
c.798T>C (p.Ser266=)
c.504T>C (p.Ser168=)
n.984T>C
n.688T>C
c.840T>C (p.Ser280=)
c.843T>C (p.Ser281=)
c.804T>C (p.Ser268=)
c.939T>C (p.Ser313=)
n.951T>C
n.655T>C
1g.117147718A>TCA419932385VTCN1c.789T>A (p.Ser263=)
c.441T>A (p.Ser147=)
c.798T>A (p.Ser266=)
c.504T>A (p.Ser168=)
n.984T>A
n.688T>A
c.840T>A (p.Ser280=)
c.843T>A (p.Ser281=)
c.804T>A (p.Ser268=)
c.939T>A (p.Ser313=)
n.951T>A
n.655T>A
1g.117147719G>ACA341808222VTCN1c.788C>T (p.Ser263Phe)
c.440C>T (p.Ser147Phe)
c.797C>T (p.Ser266Phe)
c.503C>T (p.Ser168Phe)
n.983C>T
n.687C>T
c.839C>T (p.Ser280Phe)
c.842C>T (p.Ser281Phe)
c.803C>T (p.Ser268Phe)
c.938C>T (p.Ser313Phe)
n.950C>T
n.654C>T
1g.117147719G>CCA341808224VTCN1c.788C>G (p.Ser263Cys)
c.440C>G (p.Ser147Cys)
c.797C>G (p.Ser266Cys)
c.503C>G (p.Ser168Cys)
n.983C>G
n.687C>G
c.839C>G (p.Ser280Cys)
c.842C>G (p.Ser281Cys)
c.803C>G (p.Ser268Cys)
c.938C>G (p.Ser313Cys)
n.950C>G
n.654C>G
1g.117147719G>TCA341808220VTCN1c.788C>A (p.Ser263Tyr)
c.440C>A (p.Ser147Tyr)
c.797C>A (p.Ser266Tyr)
c.503C>A (p.Ser168Tyr)
n.983C>A
n.687C>A
c.839C>A (p.Ser280Tyr)
c.842C>A (p.Ser281Tyr)
c.803C>A (p.Ser268Tyr)
c.938C>A (p.Ser313Tyr)
n.950C>A
n.654C>A
1g.117147720A>CCA341808230VTCN1c.787T>G (p.Ser263Ala)
c.439T>G (p.Ser147Ala)
c.796T>G (p.Ser266Ala)
c.502T>G (p.Ser168Ala)
n.982T>G
n.686T>G
c.838T>G (p.Ser280Ala)
c.841T>G (p.Ser281Ala)
c.802T>G (p.Ser268Ala)
c.937T>G (p.Ser313Ala)
n.949T>G
n.653T>G
1g.117147720A>GCA341808226VTCN1c.787T>C (p.Ser263Pro)
c.439T>C (p.Ser147Pro)
c.796T>C (p.Ser266Pro)
c.502T>C (p.Ser168Pro)
n.982T>C
n.686T>C
c.838T>C (p.Ser280Pro)
c.841T>C (p.Ser281Pro)
c.802T>C (p.Ser268Pro)
c.937T>C (p.Ser313Pro)
n.949T>C
n.653T>C
1g.117147720A>TCA341808228VTCN1c.787T>A (p.Ser263Thr)
c.439T>A (p.Ser147Thr)
c.796T>A (p.Ser266Thr)
c.502T>A (p.Ser168Thr)
n.982T>A
n.686T>A
c.838T>A (p.Ser280Thr)
c.841T>A (p.Ser281Thr)
c.802T>A (p.Ser268Thr)
c.937T>A (p.Ser313Thr)
n.949T>A
n.653T>A
1g.117147721G>ACA419932388VTCN1c.786C>T (p.Val262=)
c.438C>T (p.Val146=)
c.795C>T (p.Val265=)
c.501C>T (p.Val167=)
n.981C>T
n.685C>T
c.837C>T (p.Val279=)
c.840C>T (p.Val280=)
c.801C>T (p.Val267=)
c.936C>T (p.Val312=)
n.948C>T
n.652C>T
1g.117147721G>CCA419932392VTCN1c.786C>G (p.Val262=)
c.438C>G (p.Val146=)
c.795C>G (p.Val265=)
c.501C>G (p.Val167=)
n.981C>G
n.685C>G
c.837C>G (p.Val279=)
c.840C>G (p.Val280=)
c.801C>G (p.Val267=)
c.936C>G (p.Val312=)
n.948C>G
n.652C>G
1g.117147721G>TCA419932390VTCN1c.786C>A (p.Val262=)
c.438C>A (p.Val146=)
c.795C>A (p.Val265=)
c.501C>A (p.Val167=)
n.981C>A
n.685C>A
c.837C>A (p.Val279=)
c.840C>A (p.Val280=)
c.801C>A (p.Val267=)
c.936C>A (p.Val312=)
n.948C>A
n.652C>A
1g.117147721_117147723delinsGACCA1191316903VTCN1c.784_786delinsGTC (p.Val262=)
c.436_438delinsGTC (p.Val146=)
c.793_795delinsGTC (p.Val265=)
c.499_501delinsGTC (p.Val167=)
n.979_981delinsGTC
n.683_685delinsGTC
c.835_837delinsGTC (p.Val279=)
c.838_840delinsGTC (p.Val280=)
c.799_801delinsGTC (p.Val267=)
c.934_936delinsGTC (p.Val312=)
n.946_948delinsGTC
n.650_652delinsGTC
1g.117147722A>CCA341808232VTCN1c.785T>G (p.Val262Gly)
c.437T>G (p.Val146Gly)
c.794T>G (p.Val265Gly)
c.500T>G (p.Val167Gly)
n.980T>G
n.684T>G
c.836T>G (p.Val279Gly)
c.839T>G (p.Val280Gly)
c.800T>G (p.Val267Gly)
c.935T>G (p.Val312Gly)
n.947T>G
n.651T>G
1g.117147722A>GCA341808234VTCN1c.785T>C (p.Val262Ala)
c.437T>C (p.Val146Ala)
c.794T>C (p.Val265Ala)
c.500T>C (p.Val167Ala)
n.980T>C
n.684T>C
c.836T>C (p.Val279Ala)
c.839T>C (p.Val280Ala)
c.800T>C (p.Val267Ala)
c.935T>C (p.Val312Ala)
n.947T>C
n.651T>C
 gnomAD v4
1g.117147722A>TCA341808236VTCN1c.785T>A (p.Val262Asp)
c.437T>A (p.Val146Asp)
c.794T>A (p.Val265Asp)
c.500T>A (p.Val167Asp)
n.980T>A
n.684T>A
c.836T>A (p.Val279Asp)
c.839T>A (p.Val280Asp)
c.800T>A (p.Val267Asp)
c.935T>A (p.Val312Asp)
n.947T>A
n.651T>A
1g.117147722_117147728delinsACACACACA1148461963VTCN1c.779_785delinsTGTGTGT (p.Leu260=)
c.431_437delinsTGTGTGT (p.Leu144=)
c.788_794delinsTGTGTGT (p.Leu263=)
c.494_500delinsTGTGTGT (p.Leu165=)
n.974_980delinsTGTGTGT
n.678_684delinsTGTGTGT
c.830_836delinsTGTGTGT (p.Leu277=)
c.833_839delinsTGTGTGT (p.Leu278=)
c.794_800delinsTGTGTGT (p.Leu265=)
c.929_935delinsTGTGTGT (p.Leu310=)
n.941_947delinsTGTGTGT
n.645_651delinsTGTGTGT
1g.117147727_117147728delCA1030309VTCN1c.784_785del (p.Val262LeufsTer?)
c.436_437del (p.Val146LeufsTer?)
c.793_794del (p.Val265LeufsTer?)
c.499_500del (p.Val167LeufsTer?)
n.979_980del
n.683_684del
c.835_836del (p.Val279LeufsTer?)
c.838_839del (p.Val280LeufsTer?)
c.799_800del (p.Val267LeufsTer?)
c.934_935del (p.Val312LeufsTer?)
n.946_947del
n.650_651del
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.117147723C>ACA341808242VTCN1c.784G>T (p.Val262Phe)
c.436G>T (p.Val146Phe)
c.793G>T (p.Val265Phe)
c.499G>T (p.Val167Phe)
n.979G>T
n.683G>T
c.835G>T (p.Val279Phe)
c.838G>T (p.Val280Phe)
c.799G>T (p.Val267Phe)
c.934G>T (p.Val312Phe)
n.946G>T
n.650G>T
1g.117147723C>GCA341808238VTCN1c.784G>C (p.Val262Leu)
c.436G>C (p.Val146Leu)
c.793G>C (p.Val265Leu)
c.499G>C (p.Val167Leu)
n.979G>C
n.683G>C
c.835G>C (p.Val279Leu)
c.838G>C (p.Val280Leu)
c.799G>C (p.Val267Leu)
c.934G>C (p.Val312Leu)
n.946G>C
n.650G>C
1g.117147723C>TCA341808240VTCN1c.784G>A (p.Val262Ile)
c.436G>A (p.Val146Ile)
c.793G>A (p.Val265Ile)
c.499G>A (p.Val167Ile)
n.979G>A
n.683G>A
c.835G>A (p.Val279Ile)
c.838G>A (p.Val280Ile)
c.799G>A (p.Val267Ile)
c.934G>A (p.Val312Ile)
n.946G>A
n.650G>A
1g.117147724A>CCA341808243VTCN1c.783T>G (p.Cys261Trp)
c.435T>G (p.Cys145Trp)
c.792T>G (p.Cys264Trp)
c.498T>G (p.Cys166Trp)
n.978T>G
n.682T>G
c.834T>G (p.Cys278Trp)
c.837T>G (p.Cys279Trp)
c.798T>G (p.Cys266Trp)
c.933T>G (p.Cys311Trp)
n.945T>G
n.649T>G
1g.117147724A>GCA419932397VTCN1c.783T>C (p.Cys261=)
c.435T>C (p.Cys145=)
c.792T>C (p.Cys264=)
c.498T>C (p.Cys166=)
n.978T>C
n.682T>C
c.834T>C (p.Cys278=)
c.837T>C (p.Cys279=)
c.798T>C (p.Cys266=)
c.933T>C (p.Cys311=)
n.945T>C
n.649T>C
1g.117147724A>TCA341808245VTCN1c.783T>A (p.Cys261Ter)
c.435T>A (p.Cys145Ter)
c.792T>A (p.Cys264Ter)
c.498T>A (p.Cys166Ter)
n.978T>A
n.682T>A
c.834T>A (p.Cys278Ter)
c.837T>A (p.Cys279Ter)
c.798T>A (p.Cys266Ter)
c.933T>A (p.Cys311Ter)
n.945T>A
n.649T>A
1g.117147724dupCA2514467844VTCN1c.783dup (p.Val262CysfsTer?)
c.435dup (p.Val146CysfsTer?)
c.792dup (p.Val265CysfsTer?)
c.498dup (p.Val167CysfsTer?)
n.978dup
n.682dup
c.834dup (p.Val279CysfsTer?)
c.837dup (p.Val280CysfsTer?)
c.798dup (p.Val267CysfsTer?)
c.933dup (p.Val312CysfsTer?)
n.945dup
n.649dup
 gnomAD v4
1g.117147725C>ACA341808248VTCN1c.782G>T (p.Cys261Phe)
c.434G>T (p.Cys145Phe)
c.791G>T (p.Cys264Phe)
c.497G>T (p.Cys166Phe)
n.977G>T
n.681G>T
c.833G>T (p.Cys278Phe)
c.836G>T (p.Cys279Phe)
c.797G>T (p.Cys266Phe)
c.932G>T (p.Cys311Phe)
n.944G>T
n.648G>T
1g.117147725C=CA1191316904VTCN1c.782G= (p.Cys261=)
c.434G= (p.Cys145=)
c.791G= (p.Cys264=)
c.497G= (p.Cys166=)
n.977G=
n.681G=
c.833G= (p.Cys278=)
c.836G= (p.Cys279=)
c.797G= (p.Cys266=)
c.932G= (p.Cys311=)
n.944G=
n.648G=
1g.117147725C>GCA341808249VTCN1c.782G>C (p.Cys261Ser)
c.434G>C (p.Cys145Ser)
c.791G>C (p.Cys264Ser)
c.497G>C (p.Cys166Ser)
n.977G>C
n.681G>C
c.833G>C (p.Cys278Ser)
c.836G>C (p.Cys279Ser)
c.797G>C (p.Cys266Ser)
c.932G>C (p.Cys311Ser)
n.944G>C
n.648G>C
1g.117147725C>TCA1030310VTCN1c.782G>A (p.Cys261Tyr)
c.434G>A (p.Cys145Tyr)
c.791G>A (p.Cys264Tyr)
c.497G>A (p.Cys166Tyr)
n.977G>A
n.681G>A
c.833G>A (p.Cys278Tyr)
c.836G>A (p.Cys279Tyr)
c.797G>A (p.Cys266Tyr)
c.932G>A (p.Cys311Tyr)
n.944G>A
n.648G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.117147726A>CCA341808251VTCN1c.781T>G (p.Cys261Gly)
c.433T>G (p.Cys145Gly)
c.790T>G (p.Cys264Gly)
c.496T>G (p.Cys166Gly)
n.976T>G
n.680T>G
c.832T>G (p.Cys278Gly)
c.835T>G (p.Cys279Gly)
c.796T>G (p.Cys266Gly)
c.931T>G (p.Cys311Gly)
n.943T>G
n.647T>G
1g.117147726A>GCA341808255VTCN1c.781T>C (p.Cys261Arg)
c.433T>C (p.Cys145Arg)
c.790T>C (p.Cys264Arg)
c.496T>C (p.Cys166Arg)
n.976T>C
n.680T>C
c.832T>C (p.Cys278Arg)
c.835T>C (p.Cys279Arg)
c.796T>C (p.Cys266Arg)
c.931T>C (p.Cys311Arg)
n.943T>C
n.647T>C
 gnomAD v4
1g.117147726A>TCA341808253VTCN1c.781T>A (p.Cys261Ser)
c.433T>A (p.Cys145Ser)
c.790T>A (p.Cys264Ser)
c.496T>A (p.Cys166Ser)
n.976T>A
n.680T>A
c.832T>A (p.Cys278Ser)
c.835T>A (p.Cys279Ser)
c.796T>A (p.Cys266Ser)
c.931T>A (p.Cys311Ser)
n.943T>A
n.647T>A
1g.117147727C>ACA419932399VTCN1c.780G>T (p.Leu260=)
c.432G>T (p.Leu144=)
c.789G>T (p.Leu263=)
c.495G>T (p.Leu165=)
n.975G>T
n.679G>T
c.831G>T (p.Leu277=)
c.834G>T (p.Leu278=)
c.795G>T (p.Leu265=)
c.930G>T (p.Leu310=)
n.942G>T
n.646G>T
1g.117147727C>GCA419932401VTCN1c.780G>C (p.Leu260=)
c.432G>C (p.Leu144=)
c.789G>C (p.Leu263=)
c.495G>C (p.Leu165=)
n.975G>C
n.679G>C
c.831G>C (p.Leu277=)
c.834G>C (p.Leu278=)
c.795G>C (p.Leu265=)
c.930G>C (p.Leu310=)
n.942G>C
n.646G>C
1g.117147727C>TCA419932402VTCN1c.780G>A (p.Leu260=)
c.432G>A (p.Leu144=)
c.789G>A (p.Leu263=)
c.495G>A (p.Leu165=)
n.975G>A
n.679G>A
c.831G>A (p.Leu277=)
c.834G>A (p.Leu278=)
c.795G>A (p.Leu265=)
c.930G>A (p.Leu310=)
n.942G>A
n.646G>A
 gnomAD v4
1g.117147728A>CCA341808257VTCN1c.779T>G (p.Leu260Arg)
c.431T>G (p.Leu144Arg)
c.788T>G (p.Leu263Arg)
c.494T>G (p.Leu165Arg)
n.974T>G
n.678T>G
c.830T>G (p.Leu277Arg)
c.833T>G (p.Leu278Arg)
c.794T>G (p.Leu265Arg)
c.929T>G (p.Leu310Arg)
n.941T>G
n.645T>G
1g.117147728A>GCA341808258VTCN1c.779T>C (p.Leu260Pro)
c.431T>C (p.Leu144Pro)
c.788T>C (p.Leu263Pro)
c.494T>C (p.Leu165Pro)
n.974T>C
n.678T>C
c.830T>C (p.Leu277Pro)
c.833T>C (p.Leu278Pro)
c.794T>C (p.Leu265Pro)
c.929T>C (p.Leu310Pro)
n.941T>C
n.645T>C
1g.117147728A>TCA341808259VTCN1c.779T>A (p.Leu260Gln)
c.431T>A (p.Leu144Gln)
c.788T>A (p.Leu263Gln)
c.494T>A (p.Leu165Gln)
n.974T>A
n.678T>A
c.830T>A (p.Leu277Gln)
c.833T>A (p.Leu278Gln)
c.794T>A (p.Leu265Gln)
c.929T>A (p.Leu310Gln)
n.941T>A
n.645T>A
1g.117147729G>ACA419932403VTCN1c.778C>T (p.Leu260=)
c.430C>T (p.Leu144=)
c.787C>T (p.Leu263=)
c.493C>T (p.Leu165=)
n.973C>T
n.677C>T
c.829C>T (p.Leu277=)
c.832C>T (p.Leu278=)
c.793C>T (p.Leu265=)
c.928C>T (p.Leu310=)
n.940C>T
n.644C>T
1g.117147729G>CCA341808261VTCN1c.778C>G (p.Leu260Val)
c.430C>G (p.Leu144Val)
c.787C>G (p.Leu263Val)
c.493C>G (p.Leu165Val)
n.973C>G
n.677C>G
c.829C>G (p.Leu277Val)
c.832C>G (p.Leu278Val)
c.793C>G (p.Leu265Val)
c.928C>G (p.Leu310Val)
n.940C>G
n.644C>G
1g.117147729G>TCA341808262VTCN1c.778C>A (p.Leu260Met)
c.430C>A (p.Leu144Met)
c.787C>A (p.Leu263Met)
c.493C>A (p.Leu165Met)
n.973C>A
n.677C>A
c.829C>A (p.Leu277Met)
c.832C>A (p.Leu278Met)
c.793C>A (p.Leu265Met)
c.928C>A (p.Leu310Met)
n.940C>A
n.644C>A
1g.117147730A>CCA419932407VTCN1c.777T>G (p.Ser259=)
c.429T>G (p.Ser143=)
c.786T>G (p.Ser262=)
c.492T>G (p.Ser164=)
n.972T>G
n.676T>G
c.828T>G (p.Ser276=)
c.831T>G (p.Ser277=)
c.792T>G (p.Ser264=)
c.927T>G (p.Ser309=)
n.939T>G
n.643T>G
1g.117147730A>GCA419932406VTCN1c.777T>C (p.Ser259=)
c.429T>C (p.Ser143=)
c.786T>C (p.Ser262=)
c.492T>C (p.Ser164=)
n.972T>C
n.676T>C
c.828T>C (p.Ser276=)
c.831T>C (p.Ser277=)
c.792T>C (p.Ser264=)
c.927T>C (p.Ser309=)
n.939T>C
n.643T>C
1g.117147730A>TCA419932405VTCN1c.777T>A (p.Ser259=)
c.429T>A (p.Ser143=)
c.786T>A (p.Ser262=)
c.492T>A (p.Ser164=)
n.972T>A
n.676T>A
c.828T>A (p.Ser276=)
c.831T>A (p.Ser277=)
c.792T>A (p.Ser264=)
c.927T>A (p.Ser309=)
n.939T>A
n.643T>A
1g.117147730dupCA2647331153VTCN1c.777dup (p.Leu260SerfsTer?)
c.429dup (p.Leu144SerfsTer?)
c.786dup (p.Leu263SerfsTer?)
c.492dup (p.Leu165SerfsTer?)
n.972dup
n.676dup
c.828dup (p.Leu277SerfsTer?)
c.831dup (p.Leu278SerfsTer?)
c.792dup (p.Leu265SerfsTer?)
c.927dup (p.Leu310SerfsTer?)
n.939dup
n.643dup
 gnomAD v4
1g.117147731G>ACA341808264VTCN1c.776C>T (p.Ser259Phe)
c.428C>T (p.Ser143Phe)
c.785C>T (p.Ser262Phe)
c.491C>T (p.Ser164Phe)
n.971C>T
n.675C>T
c.827C>T (p.Ser276Phe)
c.830C>T (p.Ser277Phe)
c.791C>T (p.Ser264Phe)
c.926C>T (p.Ser309Phe)
n.938C>T
n.642C>T
 dbSNP gnomAD v3 gnomAD v4
1g.117147731G>CCA29758623VTCN1c.776C>G (p.Ser259Cys)
c.428C>G (p.Ser143Cys)
c.785C>G (p.Ser262Cys)
c.491C>G (p.Ser164Cys)
n.971C>G
n.675C>G
c.827C>G (p.Ser276Cys)
c.830C>G (p.Ser277Cys)
c.791C>G (p.Ser264Cys)
c.926C>G (p.Ser309Cys)
n.938C>G
n.642C>G
 dbSNP gnomAD v3 gnomAD v4
1g.117147731G=CA1191316905VTCN1c.776C= (p.Ser259=)
c.428C= (p.Ser143=)
c.785C= (p.Ser262=)
c.491C= (p.Ser164=)
n.971C=
n.675C=
c.827C= (p.Ser276=)
c.830C= (p.Ser277=)
c.791C= (p.Ser264=)
c.926C= (p.Ser309=)
n.938C=
n.642C=
1g.117147731G>TCA341808266VTCN1c.776C>A (p.Ser259Tyr)
c.428C>A (p.Ser143Tyr)
c.785C>A (p.Ser262Tyr)
c.491C>A (p.Ser164Tyr)
n.971C>A
n.675C>A
c.827C>A (p.Ser276Tyr)
c.830C>A (p.Ser277Tyr)
c.791C>A (p.Ser264Tyr)
c.926C>A (p.Ser309Tyr)
n.938C>A
n.642C>A
1g.117147732A>CCA341808268VTCN1c.775T>G (p.Ser259Ala)
c.427T>G (p.Ser143Ala)
c.784T>G (p.Ser262Ala)
c.490T>G (p.Ser164Ala)
n.970T>G
n.674T>G
c.826T>G (p.Ser276Ala)
c.829T>G (p.Ser277Ala)
c.790T>G (p.Ser264Ala)
c.925T>G (p.Ser309Ala)
n.937T>G
n.641T>G
1g.117147732A>GCA341808270VTCN1c.775T>C (p.Ser259Pro)
c.427T>C (p.Ser143Pro)
c.784T>C (p.Ser262Pro)
c.490T>C (p.Ser164Pro)
n.970T>C
n.674T>C
c.826T>C (p.Ser276Pro)
c.829T>C (p.Ser277Pro)
c.790T>C (p.Ser264Pro)
c.925T>C (p.Ser309Pro)
n.937T>C
n.641T>C
1g.117147732A>TCA341808272VTCN1c.775T>A (p.Ser259Thr)
c.427T>A (p.Ser143Thr)
c.784T>A (p.Ser262Thr)
c.490T>A (p.Ser164Thr)
n.970T>A
n.674T>A
c.826T>A (p.Ser276Thr)
c.829T>A (p.Ser277Thr)
c.790T>A (p.Ser264Thr)
c.925T>A (p.Ser309Thr)
n.937T>A
n.641T>A
1g.117147733A=CA1191316906VTCN1c.774T= (p.Ala258=)
c.426T= (p.Ala142=)
c.783T= (p.Ala261=)
c.489T= (p.Ala163=)
n.969T=
n.673T=
c.825T= (p.Ala275=)
c.828T= (p.Ala276=)
c.789T= (p.Ala263=)
c.924T= (p.Ala308=)
n.936T=
n.640T=
1g.117147733A>CCA419932408VTCN1c.774T>G (p.Ala258=)
c.426T>G (p.Ala142=)
c.783T>G (p.Ala261=)
c.489T>G (p.Ala163=)
n.969T>G
n.673T>G
c.825T>G (p.Ala275=)
c.828T>G (p.Ala276=)
c.789T>G (p.Ala263=)
c.924T>G (p.Ala308=)
n.936T>G
n.640T>G
1g.117147733A>GCA419932410VTCN1c.774T>C (p.Ala258=)
c.426T>C (p.Ala142=)
c.783T>C (p.Ala261=)
c.489T>C (p.Ala163=)
n.969T>C
n.673T>C
c.825T>C (p.Ala275=)
c.828T>C (p.Ala276=)
c.789T>C (p.Ala263=)
c.924T>C (p.Ala308=)
n.936T>C
n.640T>C
 gnomAD v4
1g.117147733A>TCA29758624VTCN1c.774T>A (p.Ala258=)
c.426T>A (p.Ala142=)
c.783T>A (p.Ala261=)
c.489T>A (p.Ala163=)
n.969T>A
n.673T>A
c.825T>A (p.Ala275=)
c.828T>A (p.Ala276=)
c.789T>A (p.Ala263=)
c.924T>A (p.Ala308=)
n.936T>A
n.640T>A
 dbSNP
1g.117147734G>ACA341808278VTCN1c.773C>T (p.Ala258Val)
c.425C>T (p.Ala142Val)
c.782C>T (p.Ala261Val)
c.488C>T (p.Ala163Val)
n.968C>T
n.672C>T
c.824C>T (p.Ala275Val)
c.827C>T (p.Ala276Val)
c.788C>T (p.Ala263Val)
c.923C>T (p.Ala308Val)
n.935C>T
n.639C>T
1g.117147734G>CCA341808276VTCN1c.773C>G (p.Ala258Gly)
c.425C>G (p.Ala142Gly)
c.782C>G (p.Ala261Gly)
c.488C>G (p.Ala163Gly)
n.968C>G
n.672C>G
c.824C>G (p.Ala275Gly)
c.827C>G (p.Ala276Gly)
c.788C>G (p.Ala263Gly)
c.923C>G (p.Ala308Gly)
n.935C>G
n.639C>G
1g.117147734G>TCA341808274VTCN1c.773C>A (p.Ala258Asp)
c.425C>A (p.Ala142Asp)
c.782C>A (p.Ala261Asp)
c.488C>A (p.Ala163Asp)
n.968C>A
n.672C>A
c.824C>A (p.Ala275Asp)
c.827C>A (p.Ala276Asp)
c.788C>A (p.Ala263Asp)
c.923C>A (p.Ala308Asp)
n.935C>A
n.639C>A
1g.117147735C>ACA341808280VTCN1c.772G>T (p.Ala258Ser)
c.424G>T (p.Ala142Ser)
c.781G>T (p.Ala261Ser)
c.487G>T (p.Ala163Ser)
n.967G>T
n.671G>T
c.823G>T (p.Ala275Ser)
c.826G>T (p.Ala276Ser)
c.787G>T (p.Ala263Ser)
c.922G>T (p.Ala308Ser)
n.934G>T
n.638G>T
 dbSNP gnomAD v2 gnomAD v4
1g.117147735C=CA1191316907VTCN1c.772G= (p.Ala258=)
c.424G= (p.Ala142=)
c.781G= (p.Ala261=)
c.487G= (p.Ala163=)
n.967G=
n.671G=
c.823G= (p.Ala275=)
c.826G= (p.Ala276=)
c.787G= (p.Ala263=)
c.922G= (p.Ala308=)
n.934G=
n.638G=
1g.117147735C>GCA341808282VTCN1c.772G>C (p.Ala258Pro)
c.424G>C (p.Ala142Pro)
c.781G>C (p.Ala261Pro)
c.487G>C (p.Ala163Pro)
n.967G>C
n.671G>C
c.823G>C (p.Ala275Pro)
c.826G>C (p.Ala276Pro)
c.787G>C (p.Ala263Pro)
c.922G>C (p.Ala308Pro)
n.934G>C
n.638G>C
 dbSNP gnomAD v4
1g.117147735C>TCA341808283VTCN1c.772G>A (p.Ala258Thr)
c.424G>A (p.Ala142Thr)
c.781G>A (p.Ala261Thr)
c.487G>A (p.Ala163Thr)
n.967G>A
n.671G>A
c.823G>A (p.Ala275Thr)
c.826G>A (p.Ala276Thr)
c.787G>A (p.Ala263Thr)
c.922G>A (p.Ala308Thr)
n.934G>A
n.638G>A
 gnomAD v4
1g.117147735_117147736insATGCAAAGTCA2546405924VTCN1c.771_772insACTTTGCAT (p.Lys257_Ala258insThrLeuHis)
c.423_424insACTTTGCAT (p.Lys141_Ala142insThrLeuHis)
c.780_781insACTTTGCAT (p.Lys260_Ala261insThrLeuHis)
c.486_487insACTTTGCAT (p.Lys162_Ala163insThrLeuHis)
n.966_967insACTTTGCAT
n.670_671insACTTTGCAT
c.822_823insACTTTGCAT (p.Lys274_Ala275insThrLeuHis)
c.825_826insACTTTGCAT (p.Lys275_Ala276insThrLeuHis)
c.786_787insACTTTGCAT (p.Lys262_Ala263insThrLeuHis)
c.921_922insACTTTGCAT (p.Lys307_Ala308insThrLeuHis)
n.933_934insACTTTGCAT
n.637_638insACTTTGCAT
1g.117147736C>ACA341808284VTCN1c.771G>T (p.Lys257Asn)
c.423G>T (p.Lys141Asn)
c.780G>T (p.Lys260Asn)
c.486G>T (p.Lys162Asn)
n.966G>T
n.670G>T
c.822G>T (p.Lys274Asn)
c.825G>T (p.Lys275Asn)
c.786G>T (p.Lys262Asn)
c.921G>T (p.Lys307Asn)
n.933G>T
n.637G>T
 dbSNP
1g.117147736C=CA1191316908VTCN1c.771G= (p.Lys257=)
c.423G= (p.Lys141=)
c.780G= (p.Lys260=)
c.486G= (p.Lys162=)
n.966G=
n.670G=
c.822G= (p.Lys274=)
c.825G= (p.Lys275=)
c.786G= (p.Lys262=)
c.921G= (p.Lys307=)
n.933G=
n.637G=
1g.117147736C>GCA341808285VTCN1c.771G>C (p.Lys257Asn)
c.423G>C (p.Lys141Asn)
c.780G>C (p.Lys260Asn)
c.486G>C (p.Lys162Asn)
n.966G>C
n.670G>C
c.822G>C (p.Lys274Asn)
c.825G>C (p.Lys275Asn)
c.786G>C (p.Lys262Asn)
c.921G>C (p.Lys307Asn)
n.933G>C
n.637G>C
1g.117147736C>TCA419932412VTCN1c.771G>A (p.Lys257=)
c.423G>A (p.Lys141=)
c.780G>A (p.Lys260=)
c.486G>A (p.Lys162=)
n.966G>A
n.670G>A
c.822G>A (p.Lys274=)
c.825G>A (p.Lys275=)
c.786G>A (p.Lys262=)
c.921G>A (p.Lys307=)
n.933G>A
n.637G>A
 dbSNP gnomAD v4
1g.117147737T>ACA341808288VTCN1c.770A>T (p.Lys257Met)
c.422A>T (p.Lys141Met)
c.779A>T (p.Lys260Met)
c.485A>T (p.Lys162Met)
n.965A>T
n.669A>T
c.821A>T (p.Lys274Met)
c.824A>T (p.Lys275Met)
c.785A>T (p.Lys262Met)
c.920A>T (p.Lys307Met)
n.932A>T
n.636A>T
1g.117147737T>CCA341808287VTCN1c.770A>G (p.Lys257Arg)
c.422A>G (p.Lys141Arg)
c.779A>G (p.Lys260Arg)
c.485A>G (p.Lys162Arg)
n.965A>G
n.669A>G
c.821A>G (p.Lys274Arg)
c.824A>G (p.Lys275Arg)
c.785A>G (p.Lys262Arg)
c.920A>G (p.Lys307Arg)
n.932A>G
n.636A>G
1g.117147737T>GCA341808286VTCN1c.770A>C (p.Lys257Thr)
c.422A>C (p.Lys141Thr)
c.779A>C (p.Lys260Thr)
c.485A>C (p.Lys162Thr)
n.965A>C
n.669A>C
c.821A>C (p.Lys274Thr)
c.824A>C (p.Lys275Thr)
c.785A>C (p.Lys262Thr)
c.920A>C (p.Lys307Thr)
n.932A>C
n.636A>C
1g.117147739dupCA1030311VTCN1c.770dup (p.Ala258GlyfsTer?)
c.422dup (p.Ala142GlyfsTer?)
c.779dup (p.Ala261GlyfsTer?)
c.485dup (p.Ala163GlyfsTer?)
n.965dup
n.669dup
c.821dup (p.Ala275GlyfsTer?)
c.824dup (p.Ala276GlyfsTer?)
c.785dup (p.Ala263GlyfsTer?)
c.920dup (p.Ala308GlyfsTer?)
n.932dup
n.636dup
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.117147738T>ACA341808290VTCN1c.769A>T (p.Lys257Ter)
c.421A>T (p.Lys141Ter)
c.778A>T (p.Lys260Ter)
c.484A>T (p.Lys162Ter)
n.964A>T
n.668A>T
c.820A>T (p.Lys274Ter)
c.823A>T (p.Lys275Ter)
c.784A>T (p.Lys262Ter)
c.919A>T (p.Lys307Ter)
n.931A>T
n.635A>T
1g.117147738T>CCA341808292VTCN1c.769A>G (p.Lys257Glu)
c.421A>G (p.Lys141Glu)
c.778A>G (p.Lys260Glu)
c.484A>G (p.Lys162Glu)
n.964A>G
n.668A>G
c.820A>G (p.Lys274Glu)
c.823A>G (p.Lys275Glu)
c.784A>G (p.Lys262Glu)
c.919A>G (p.Lys307Glu)
n.931A>G
n.635A>G
1g.117147738T>GCA341808294VTCN1c.769A>C (p.Lys257Gln)
c.421A>C (p.Lys141Gln)
c.778A>C (p.Lys260Gln)
c.484A>C (p.Lys162Gln)
n.964A>C
n.668A>C
c.820A>C (p.Lys274Gln)
c.823A>C (p.Lys275Gln)
c.784A>C (p.Lys262Gln)
c.919A>C (p.Lys307Gln)
n.931A>C
n.635A>C
1g.117147739T>ACA419932415VTCN1c.768A>T (p.Ser256=)
c.420A>T (p.Ser140=)
c.777A>T (p.Ser259=)
c.483A>T (p.Ser161=)
n.963A>T
n.667A>T
c.819A>T (p.Ser273=)
c.822A>T (p.Ser274=)
c.783A>T (p.Ser261=)
c.918A>T (p.Ser306=)
n.930A>T
n.634A>T
1g.117147739T>CCA419932416VTCN1c.768A>G (p.Ser256=)
c.420A>G (p.Ser140=)
c.777A>G (p.Ser259=)
c.483A>G (p.Ser161=)
n.963A>G
n.667A>G
c.819A>G (p.Ser273=)
c.822A>G (p.Ser274=)
c.783A>G (p.Ser261=)
c.918A>G (p.Ser306=)
n.930A>G
n.634A>G
1g.117147739T>GCA419932418VTCN1c.768A>C (p.Ser256=)
c.420A>C (p.Ser140=)
c.777A>C (p.Ser259=)
c.483A>C (p.Ser161=)
n.963A>C
n.667A>C
c.819A>C (p.Ser273=)
c.822A>C (p.Ser274=)
c.783A>C (p.Ser261=)
c.918A>C (p.Ser306=)
n.930A>C
n.634A>C
 gnomAD v4
1g.117147740G>ACA341808296VTCN1c.767C>T (p.Ser256Leu)
c.419C>T (p.Ser140Leu)
c.776C>T (p.Ser259Leu)
c.482C>T (p.Ser161Leu)
n.962C>T
n.666C>T
c.818C>T (p.Ser273Leu)
c.821C>T (p.Ser274Leu)
c.782C>T (p.Ser261Leu)
c.917C>T (p.Ser306Leu)
n.929C>T
n.633C>T
 dbSNP COSMIC
1g.117147740G>CCA341808297VTCN1c.767C>G (p.Ser256Ter)
c.419C>G (p.Ser140Ter)
c.776C>G (p.Ser259Ter)
c.482C>G (p.Ser161Ter)
n.962C>G
n.666C>G
c.818C>G (p.Ser273Ter)
c.821C>G (p.Ser274Ter)
c.782C>G (p.Ser261Ter)
c.917C>G (p.Ser306Ter)
n.929C>G
n.633C>G
1g.117147740G>TCA341808299VTCN1c.767C>A (p.Ser256Ter)
c.419C>A (p.Ser140Ter)
c.776C>A (p.Ser259Ter)
c.482C>A (p.Ser161Ter)
n.962C>A
n.666C>A
c.818C>A (p.Ser273Ter)
c.821C>A (p.Ser274Ter)
c.782C>A (p.Ser261Ter)
c.917C>A (p.Ser306Ter)
n.929C>A
n.633C>A
1g.117147741A=CA1191316909VTCN1c.766T= (p.Ser256=)
c.418T= (p.Ser140=)
c.775T= (p.Ser259=)
c.481T= (p.Ser161=)
n.961T=
n.665T=
c.817T= (p.Ser273=)
c.820T= (p.Ser274=)
c.781T= (p.Ser261=)
c.916T= (p.Ser306=)
n.928T=
n.632T=
1g.117147741A>CCA341808301VTCN1c.766T>G (p.Ser256Ala)
c.418T>G (p.Ser140Ala)
c.775T>G (p.Ser259Ala)
c.481T>G (p.Ser161Ala)
n.961T>G
n.665T>G
c.817T>G (p.Ser273Ala)
c.820T>G (p.Ser274Ala)
c.781T>G (p.Ser261Ala)
c.916T>G (p.Ser306Ala)
n.928T>G
n.632T>G
 dbSNP
1g.117147741A>GCA341808306VTCN1c.766T>C (p.Ser256Pro)
c.418T>C (p.Ser140Pro)
c.775T>C (p.Ser259Pro)
c.481T>C (p.Ser161Pro)
n.961T>C
n.665T>C
c.817T>C (p.Ser273Pro)
c.820T>C (p.Ser274Pro)
c.781T>C (p.Ser261Pro)
c.916T>C (p.Ser306Pro)
n.928T>C
n.632T>C
1g.117147741A>TCA341808303VTCN1c.766T>A (p.Ser256Thr)
c.418T>A (p.Ser140Thr)
c.775T>A (p.Ser259Thr)
c.481T>A (p.Ser161Thr)
n.961T>A
n.665T>A
c.817T>A (p.Ser273Thr)
c.820T>A (p.Ser274Thr)
c.781T>A (p.Ser261Thr)
c.916T>A (p.Ser306Thr)
n.928T>A
n.632T>A
1g.117147742G>ACA419932420VTCN1c.765C>T (p.Asn255=)
c.417C>T (p.Asn139=)
c.774C>T (p.Asn258=)
c.480C>T (p.Asn160=)
n.960C>T
n.664C>T
c.816C>T (p.Asn272=)
c.819C>T (p.Asn273=)
c.780C>T (p.Asn260=)
c.915C>T (p.Asn305=)
n.927C>T
n.631C>T
 dbSNP gnomAD v4
1g.117147742G>CCA341808307VTCN1c.765C>G (p.Asn255Lys)
c.417C>G (p.Asn139Lys)
c.774C>G (p.Asn258Lys)
c.480C>G (p.Asn160Lys)
n.960C>G
n.664C>G
c.816C>G (p.Asn272Lys)
c.819C>G (p.Asn273Lys)
c.780C>G (p.Asn260Lys)
c.915C>G (p.Asn305Lys)
n.927C>G
n.631C>G
1g.117147742G>TCA341808309VTCN1c.765C>A (p.Asn255Lys)
c.417C>A (p.Asn139Lys)
c.774C>A (p.Asn258Lys)
c.480C>A (p.Asn160Lys)
n.960C>A
n.664C>A
c.816C>A (p.Asn272Lys)
c.819C>A (p.Asn273Lys)
c.780C>A (p.Asn260Lys)
c.915C>A (p.Asn305Lys)
n.927C>A
n.631C>A
 gnomAD v4
1g.117147743T>ACA341808311VTCN1c.764A>T (p.Asn255Ile)
c.416A>T (p.Asn139Ile)
c.773A>T (p.Asn258Ile)
c.479A>T (p.Asn160Ile)
n.959A>T
n.663A>T
c.815A>T (p.Asn272Ile)
c.818A>T (p.Asn273Ile)
c.779A>T (p.Asn260Ile)
c.914A>T (p.Asn305Ile)
n.926A>T
n.630A>T
1g.117147743T>CCA1030312VTCN1c.764A>G (p.Asn255Ser)
c.416A>G (p.Asn139Ser)
c.773A>G (p.Asn258Ser)
c.479A>G (p.Asn160Ser)
n.959A>G
n.663A>G
c.815A>G (p.Asn272Ser)
c.818A>G (p.Asn273Ser)
c.779A>G (p.Asn260Ser)
c.914A>G (p.Asn305Ser)
n.926A>G
n.630A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.117147743T>GCA341808313VTCN1c.764A>C (p.Asn255Thr)
c.416A>C (p.Asn139Thr)
c.773A>C (p.Asn258Thr)
c.479A>C (p.Asn160Thr)
n.959A>C
n.663A>C
c.815A>C (p.Asn272Thr)
c.818A>C (p.Asn273Thr)
c.779A>C (p.Asn260Thr)
c.914A>C (p.Asn305Thr)
n.926A>C
n.630A>C
1g.117147743T=CA1191316910VTCN1c.764A= (p.Asn255=)
c.416A= (p.Asn139=)
c.773A= (p.Asn258=)
c.479A= (p.Asn160=)
n.959A=
n.663A=
c.815A= (p.Asn272=)
c.818A= (p.Asn273=)
c.779A= (p.Asn260=)
c.914A= (p.Asn305=)
n.926A=
n.630A=
1g.117147744T>ACA341808315VTCN1c.763A>T (p.Asn255Tyr)
c.415A>T (p.Asn139Tyr)
c.772A>T (p.Asn258Tyr)
c.478A>T (p.Asn160Tyr)
n.958A>T
n.662A>T
c.814A>T (p.Asn272Tyr)
c.817A>T (p.Asn273Tyr)
c.778A>T (p.Asn260Tyr)
c.913A>T (p.Asn305Tyr)
n.925A>T
n.629A>T
1g.117147744T>CCA341808318VTCN1c.763A>G (p.Asn255Asp)
c.415A>G (p.Asn139Asp)
c.772A>G (p.Asn258Asp)
c.478A>G (p.Asn160Asp)
n.958A>G
n.662A>G
c.814A>G (p.Asn272Asp)
c.817A>G (p.Asn273Asp)
c.778A>G (p.Asn260Asp)
c.913A>G (p.Asn305Asp)
n.925A>G
n.629A>G
1g.117147744T>GCA341808319VTCN1c.763A>C (p.Asn255His)
c.415A>C (p.Asn139His)
c.772A>C (p.Asn258His)
c.478A>C (p.Asn160His)
n.958A>C
n.662A>C
c.814A>C (p.Asn272His)
c.817A>C (p.Asn273His)
c.778A>C (p.Asn260His)
c.913A>C (p.Asn305His)
n.925A>C
n.629A>C
1g.117147745T>ACA419932425VTCN1c.762A>T (p.Leu254=)
c.414A>T (p.Leu138=)
c.771A>T (p.Leu257=)
c.477A>T (p.Leu159=)
n.957A>T
n.661A>T
c.813A>T (p.Leu271=)
c.816A>T (p.Leu272=)
c.777A>T (p.Leu259=)
c.912A>T (p.Leu304=)
n.924A>T
n.628A>T
1g.117147745T>CCA1030313VTCN1c.762A>G (p.Leu254=)
c.414A>G (p.Leu138=)
c.771A>G (p.Leu257=)
c.477A>G (p.Leu159=)
n.957A>G
n.661A>G
c.813A>G (p.Leu271=)
c.816A>G (p.Leu272=)
c.777A>G (p.Leu259=)
c.912A>G (p.Leu304=)
n.924A>G
n.628A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.117147745T>GCA419932424VTCN1c.762A>C (p.Leu254=)
c.414A>C (p.Leu138=)
c.771A>C (p.Leu257=)
c.477A>C (p.Leu159=)
n.957A>C
n.661A>C
c.813A>C (p.Leu271=)
c.816A>C (p.Leu272=)
c.777A>C (p.Leu259=)
c.912A>C (p.Leu304=)
n.924A>C
n.628A>C
1g.117147745T=CA1148724333VTCN1c.762A= (p.Leu254=)
c.414A= (p.Leu138=)
c.771A= (p.Leu257=)
c.477A= (p.Leu159=)
n.957A=
n.661A=
c.813A= (p.Leu271=)
c.816A= (p.Leu272=)
c.777A= (p.Leu259=)
c.912A= (p.Leu304=)
n.924A=
n.628A=
1g.117147746A>CCA341808323VTCN1c.761T>G (p.Leu254Arg)
c.413T>G (p.Leu138Arg)
c.770T>G (p.Leu257Arg)
c.476T>G (p.Leu159Arg)
n.956T>G
n.660T>G
c.812T>G (p.Leu271Arg)
c.815T>G (p.Leu272Arg)
c.776T>G (p.Leu259Arg)
c.911T>G (p.Leu304Arg)
n.923T>G
n.627T>G
1g.117147746A>GCA341808325VTCN1c.761T>C (p.Leu254Pro)
c.413T>C (p.Leu138Pro)
c.770T>C (p.Leu257Pro)
c.476T>C (p.Leu159Pro)
n.956T>C
n.660T>C
c.812T>C (p.Leu271Pro)
c.815T>C (p.Leu272Pro)
c.776T>C (p.Leu259Pro)
c.911T>C (p.Leu304Pro)
n.923T>C
n.627T>C
1g.117147746A>TCA341808327VTCN1c.761T>A (p.Leu254Gln)
c.413T>A (p.Leu138Gln)
c.770T>A (p.Leu257Gln)
c.476T>A (p.Leu159Gln)
n.956T>A
n.660T>A
c.812T>A (p.Leu271Gln)
c.815T>A (p.Leu272Gln)
c.776T>A (p.Leu259Gln)
c.911T>A (p.Leu304Gln)
n.923T>A
n.627T>A
 gnomAD v4
1g.117147747G>ACA419932427VTCN1c.760C>T (p.Leu254=)
c.412C>T (p.Leu138=)
c.769C>T (p.Leu257=)
c.475C>T (p.Leu159=)
n.955C>T
n.659C>T
c.811C>T (p.Leu271=)
c.814C>T (p.Leu272=)
c.775C>T (p.Leu259=)
c.910C>T (p.Leu304=)
n.922C>T
n.626C>T
1g.117147747G>CCA341808329VTCN1c.760C>G (p.Leu254Val)
c.412C>G (p.Leu138Val)
c.769C>G (p.Leu257Val)
c.475C>G (p.Leu159Val)
n.955C>G
n.659C>G
c.811C>G (p.Leu271Val)
c.814C>G (p.Leu272Val)
c.775C>G (p.Leu259Val)
c.910C>G (p.Leu304Val)
n.922C>G
n.626C>G
1g.117147747G>TCA341808330VTCN1c.760C>A (p.Leu254Ile)
c.412C>A (p.Leu138Ile)
c.769C>A (p.Leu257Ile)
c.475C>A (p.Leu159Ile)
n.955C>A
n.659C>A
c.811C>A (p.Leu271Ile)
c.814C>A (p.Leu272Ile)
c.775C>A (p.Leu259Ile)
c.910C>A (p.Leu304Ile)
n.922C>A
n.626C>A
 dbSNP
1g.117147748C>ACA419932428VTCN1c.759G>T (p.Leu253=)
c.411G>T (p.Leu137=)
c.768G>T (p.Leu256=)
c.474G>T (p.Leu158=)
n.954G>T
n.658G>T
c.810G>T (p.Leu270=)
c.813G>T (p.Leu271=)
c.774G>T (p.Leu258=)
c.909G>T (p.Leu303=)
n.921G>T
n.625G>T
1g.117147748C=CA1191316911VTCN1c.759G= (p.Leu253=)
c.411G= (p.Leu137=)
c.768G= (p.Leu256=)
c.474G= (p.Leu158=)
n.954G=
n.658G=
c.810G= (p.Leu270=)
c.813G= (p.Leu271=)
c.774G= (p.Leu258=)
c.909G= (p.Leu303=)
n.921G=
n.625G=
1g.117147748C>GCA419932429VTCN1c.759G>C (p.Leu253=)
c.411G>C (p.Leu137=)
c.768G>C (p.Leu256=)
c.474G>C (p.Leu158=)
n.954G>C
n.658G>C
c.810G>C (p.Leu270=)
c.813G>C (p.Leu271=)
c.774G>C (p.Leu258=)
c.909G>C (p.Leu303=)
n.921G>C
n.625G>C
1g.117147748C>TCA1030314VTCN1c.759G>A (p.Leu253=)
c.411G>A (p.Leu137=)
c.768G>A (p.Leu256=)
c.474G>A (p.Leu158=)
n.954G>A
n.658G>A
c.810G>A (p.Leu270=)
c.813G>A (p.Leu271=)
c.774G>A (p.Leu258=)
c.909G>A (p.Leu303=)
n.921G>A
n.625G>A
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.117147749A=CA1142432952VTCN1c.758T= (p.Leu253=)
c.410T= (p.Leu137=)
c.767T= (p.Leu256=)
c.473T= (p.Leu158=)
n.953T=
n.657T=
c.809T= (p.Leu270=)
c.812T= (p.Leu271=)
c.773T= (p.Leu258=)
c.908T= (p.Leu303=)
n.920T=
n.624T=
1g.117147749A>CCA341808334VTCN1c.758T>G (p.Leu253Arg)
c.410T>G (p.Leu137Arg)
c.767T>G (p.Leu256Arg)
c.473T>G (p.Leu158Arg)
n.953T>G
n.657T>G
c.809T>G (p.Leu270Arg)
c.812T>G (p.Leu271Arg)
c.773T>G (p.Leu258Arg)
c.908T>G (p.Leu303Arg)
n.920T>G
n.624T>G
1g.117147749A>GCA1030315VTCN1c.758T>C (p.Leu253Pro)
c.410T>C (p.Leu137Pro)
c.767T>C (p.Leu256Pro)
c.473T>C (p.Leu158Pro)
n.953T>C
n.657T>C
c.809T>C (p.Leu270Pro)
c.812T>C (p.Leu271Pro)
c.773T>C (p.Leu258Pro)
c.908T>C (p.Leu303Pro)
n.920T>C
n.624T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.117147749A>TCA341808335VTCN1c.758T>A (p.Leu253Gln)
c.410T>A (p.Leu137Gln)
c.767T>A (p.Leu256Gln)
c.473T>A (p.Leu158Gln)
n.953T>A
n.657T>A
c.809T>A (p.Leu270Gln)
c.812T>A (p.Leu271Gln)
c.773T>A (p.Leu258Gln)
c.908T>A (p.Leu303Gln)
n.920T>A
n.624T>A
1g.117147750G>ACA419932431VTCN1c.757C>T (p.Leu253=)
c.409C>T (p.Leu137=)
c.766C>T (p.Leu256=)
c.472C>T (p.Leu158=)
n.952C>T
n.656C>T
c.808C>T (p.Leu270=)
c.811C>T (p.Leu271=)
c.772C>T (p.Leu258=)
c.907C>T (p.Leu303=)
n.919C>T
n.623C>T
 dbSNP
1g.117147750G>CCA341808337VTCN1c.757C>G (p.Leu253Val)
c.409C>G (p.Leu137Val)
c.766C>G (p.Leu256Val)
c.472C>G (p.Leu158Val)
n.952C>G
n.656C>G
c.808C>G (p.Leu270Val)
c.811C>G (p.Leu271Val)
c.772C>G (p.Leu258Val)
c.907C>G (p.Leu303Val)
n.919C>G
n.623C>G
 dbSNP
1g.117147750G>TCA341808338VTCN1c.757C>A (p.Leu253Met)
c.409C>A (p.Leu137Met)
c.766C>A (p.Leu256Met)
c.472C>A (p.Leu158Met)
n.952C>A
n.656C>A
c.808C>A (p.Leu270Met)
c.811C>A (p.Leu271Met)
c.772C>A (p.Leu258Met)
c.907C>A (p.Leu303Met)
n.919C>A
n.623C>A
1g.117147751C>ACA341808341VTCN1c.756G>T (p.Gln252His)
c.408G>T (p.Gln136His)
c.765G>T (p.Gln255His)
c.471G>T (p.Gln157His)
n.951G>T
n.655G>T
c.807G>T (p.Gln269His)
c.810G>T (p.Gln270His)
c.771G>T (p.Gln257His)
c.906G>T (p.Gln302His)
n.918G>T
n.622G>T
1g.117147751C>GCA341808342VTCN1c.756G>C (p.Gln252His)
c.408G>C (p.Gln136His)
c.765G>C (p.Gln255His)
c.471G>C (p.Gln157His)
n.951G>C
n.655G>C
c.807G>C (p.Gln269His)
c.810G>C (p.Gln270His)
c.771G>C (p.Gln257His)
c.906G>C (p.Gln302His)
n.918G>C
n.622G>C
1g.117147751C>TCA419932433VTCN1c.756G>A (p.Gln252=)
c.408G>A (p.Gln136=)
c.765G>A (p.Gln255=)
c.471G>A (p.Gln157=)
n.951G>A
n.655G>A
c.807G>A (p.Gln269=)
c.810G>A (p.Gln270=)
c.771G>A (p.Gln257=)
c.906G>A (p.Gln302=)
n.918G>A
n.622G>A
1g.117147752T>ACA341808345VTCN1c.755A>T (p.Gln252Leu)
c.407A>T (p.Gln136Leu)
c.764A>T (p.Gln255Leu)
c.470A>T (p.Gln157Leu)
n.950A>T
n.654A>T
c.806A>T (p.Gln269Leu)
c.809A>T (p.Gln270Leu)
c.770A>T (p.Gln257Leu)
c.905A>T (p.Gln302Leu)
n.917A>T
n.621A>T
 gnomAD v4
1g.117147752T>CCA341808347VTCN1c.755A>G (p.Gln252Arg)
c.407A>G (p.Gln136Arg)
c.764A>G (p.Gln255Arg)
c.470A>G (p.Gln157Arg)
n.950A>G
n.654A>G
c.806A>G (p.Gln269Arg)
c.809A>G (p.Gln270Arg)
c.770A>G (p.Gln257Arg)
c.905A>G (p.Gln302Arg)
n.917A>G
n.621A>G
 gnomAD v4
1g.117147752T>GCA341808349VTCN1c.755A>C (p.Gln252Pro)
c.407A>C (p.Gln136Pro)
c.764A>C (p.Gln255Pro)
c.470A>C (p.Gln157Pro)
n.950A>C
n.654A>C
c.806A>C (p.Gln269Pro)
c.809A>C (p.Gln270Pro)
c.770A>C (p.Gln257Pro)
c.905A>C (p.Gln302Pro)
n.917A>C
n.621A>C
1g.117147753G>ACA341808352VTCN1c.754C>T (p.Gln252Ter)
c.406C>T (p.Gln136Ter)
c.763C>T (p.Gln255Ter)
c.469C>T (p.Gln157Ter)
n.949C>T
n.653C>T
c.805C>T (p.Gln269Ter)
c.808C>T (p.Gln270Ter)
c.769C>T (p.Gln257Ter)
c.904C>T (p.Gln302Ter)
n.916C>T
n.620C>T
 gnomAD v4
1g.117147753G>CCA341808353VTCN1c.754C>G (p.Gln252Glu)
c.406C>G (p.Gln136Glu)
c.763C>G (p.Gln255Glu)
c.469C>G (p.Gln157Glu)
n.949C>G
n.653C>G
c.805C>G (p.Gln269Glu)
c.808C>G (p.Gln270Glu)
c.769C>G (p.Gln257Glu)
c.904C>G (p.Gln302Glu)
n.916C>G
n.620C>G
1g.117147753G=CA1191316912VTCN1c.754C= (p.Gln252=)
c.406C= (p.Gln136=)
c.763C= (p.Gln255=)
c.469C= (p.Gln157=)
n.949C=
n.653C=
c.805C= (p.Gln269=)
c.808C= (p.Gln270=)
c.769C= (p.Gln257=)
c.904C= (p.Gln302=)
n.916C=
n.620C=
1g.117147753G>TCA341808355VTCN1c.754C>A (p.Gln252Lys)
c.406C>A (p.Gln136Lys)
c.763C>A (p.Gln255Lys)
c.469C>A (p.Gln157Lys)
n.949C>A
n.653C>A
c.805C>A (p.Gln269Lys)
c.808C>A (p.Gln270Lys)
c.769C>A (p.Gln257Lys)
c.904C>A (p.Gln302Lys)
n.916C>A
n.620C>A
 dbSNP
1g.117147754T>ACA419932437VTCN1c.753A>T (p.Leu251=)
c.405A>T (p.Leu135=)
c.762A>T (p.Leu254=)
c.468A>T (p.Leu156=)
n.948A>T
n.652A>T
c.804A>T (p.Leu268=)
c.807A>T (p.Leu269=)
c.768A>T (p.Leu256=)
c.903A>T (p.Leu301=)
n.915A>T
n.619A>T
1g.117147754T>CCA419932436VTCN1c.753A>G (p.Leu251=)
c.405A>G (p.Leu135=)
c.762A>G (p.Leu254=)
c.468A>G (p.Leu156=)
n.948A>G
n.652A>G
c.804A>G (p.Leu268=)
c.807A>G (p.Leu269=)
c.768A>G (p.Leu256=)
c.903A>G (p.Leu301=)
n.915A>G
n.619A>G
1g.117147754T>GCA419932435VTCN1c.753A>C (p.Leu251=)
c.405A>C (p.Leu135=)
c.762A>C (p.Leu254=)
c.468A>C (p.Leu156=)
n.948A>C
n.652A>C
c.804A>C (p.Leu268=)
c.807A>C (p.Leu269=)
c.768A>C (p.Leu256=)
c.903A>C (p.Leu301=)
n.915A>C
n.619A>C
1g.117147755A=CA1191316913VTCN1c.752T= (p.Leu251=)
c.404T= (p.Leu135=)
c.761T= (p.Leu254=)
c.467T= (p.Leu156=)
n.947T=
n.651T=
c.803T= (p.Leu268=)
c.806T= (p.Leu269=)
c.767T= (p.Leu256=)
c.902T= (p.Leu301=)
n.914T=
n.618T=
1g.117147755A>CCA341808357VTCN1c.752T>G (p.Leu251Arg)
c.404T>G (p.Leu135Arg)
c.761T>G (p.Leu254Arg)
c.467T>G (p.Leu156Arg)
n.947T>G
n.651T>G
c.803T>G (p.Leu268Arg)
c.806T>G (p.Leu269Arg)
c.767T>G (p.Leu256Arg)
c.902T>G (p.Leu301Arg)
n.914T>G
n.618T>G
 gnomAD v4
1g.117147755A>GCA29758648VTCN1c.752T>C (p.Leu251Pro)
c.404T>C (p.Leu135Pro)
c.761T>C (p.Leu254Pro)
c.467T>C (p.Leu156Pro)
n.947T>C
n.651T>C
c.803T>C (p.Leu268Pro)
c.806T>C (p.Leu269Pro)
c.767T>C (p.Leu256Pro)
c.902T>C (p.Leu301Pro)
n.914T>C
n.618T>C
 dbSNP gnomAD v3 gnomAD v4
1g.117147755A>TCA341808359VTCN1c.752T>A (p.Leu251Gln)
c.404T>A (p.Leu135Gln)
c.761T>A (p.Leu254Gln)
c.467T>A (p.Leu156Gln)
n.947T>A
n.651T>A
c.803T>A (p.Leu268Gln)
c.806T>A (p.Leu269Gln)
c.767T>A (p.Leu256Gln)
c.902T>A (p.Leu301Gln)
n.914T>A
n.618T>A
1g.117147756G>ACA419932440VTCN1c.751C>T (p.Leu251=)
c.403C>T (p.Leu135=)
c.760C>T (p.Leu254=)
c.466C>T (p.Leu156=)
n.946C>T
n.650C>T
c.802C>T (p.Leu268=)
c.805C>T (p.Leu269=)
c.766C>T (p.Leu256=)
c.901C>T (p.Leu301=)
n.913C>T
n.617C>T
 gnomAD v4
1g.117147756G>CCA341808362VTCN1c.751C>G (p.Leu251Val)
c.403C>G (p.Leu135Val)
c.760C>G (p.Leu254Val)
c.466C>G (p.Leu156Val)
n.946C>G
n.650C>G
c.802C>G (p.Leu268Val)
c.805C>G (p.Leu269Val)
c.766C>G (p.Leu256Val)
c.901C>G (p.Leu301Val)
n.913C>G
n.617C>G
 dbSNP gnomAD v3 gnomAD v4
1g.117147756G=CA1191316914VTCN1c.751C= (p.Leu251=)
c.403C= (p.Leu135=)
c.760C= (p.Leu254=)
c.466C= (p.Leu156=)
n.946C=
n.650C=
c.802C= (p.Leu268=)
c.805C= (p.Leu269=)
c.766C= (p.Leu256=)
c.901C= (p.Leu301=)
n.913C=
n.617C=
1g.117147756G>TCA341808364VTCN1c.751C>A (p.Leu251Ile)
c.403C>A (p.Leu135Ile)
c.760C>A (p.Leu254Ile)
c.466C>A (p.Leu156Ile)
n.946C>A
n.650C>A
c.802C>A (p.Leu268Ile)
c.805C>A (p.Leu269Ile)
c.766C>A (p.Leu256Ile)
c.901C>A (p.Leu301Ile)
n.913C>A
n.617C>A
 dbSNP gnomAD v3 gnomAD v4
1g.117147757G>ACA419932441VTCN1c.750C>T (p.His250=)
c.402C>T (p.His134=)
c.759C>T (p.His253=)
c.465C>T (p.His155=)
n.945C>T
n.649C>T
c.801C>T (p.His267=)
c.804C>T (p.His268=)
c.765C>T (p.His255=)
c.900C>T (p.His300=)
n.912C>T
n.616C>T
 dbSNP gnomAD v2 gnomAD v4
1g.117147757G>CCA341808369VTCN1c.750C>G (p.His250Gln)
c.402C>G (p.His134Gln)
c.759C>G (p.His253Gln)
c.465C>G (p.His155Gln)
n.945C>G
n.649C>G
c.801C>G (p.His267Gln)
c.804C>G (p.His268Gln)
c.765C>G (p.His255Gln)
c.900C>G (p.His300Gln)
n.912C>G
n.616C>G
1g.117147757G=CA1191316915VTCN1c.750C= (p.His250=)
c.402C= (p.His134=)
c.759C= (p.His253=)
c.465C= (p.His155=)
n.945C=
n.649C=
c.801C= (p.His267=)
c.804C= (p.His268=)
c.765C= (p.His255=)
c.900C= (p.His300=)
n.912C=
n.616C=
1g.117147757G>TCA341808370VTCN1c.750C>A (p.His250Gln)
c.402C>A (p.His134Gln)
c.759C>A (p.His253Gln)
c.465C>A (p.His155Gln)
n.945C>A
n.649C>A
c.801C>A (p.His267Gln)
c.804C>A (p.His268Gln)
c.765C>A (p.His255Gln)
c.900C>A (p.His300Gln)
n.912C>A
n.616C>A
1g.117147758T>ACA341808373VTCN1c.749A>T (p.His250Leu)
c.401A>T (p.His134Leu)
c.758A>T (p.His253Leu)
c.464A>T (p.His155Leu)
n.944A>T
n.648A>T
c.800A>T (p.His267Leu)
c.803A>T (p.His268Leu)
c.764A>T (p.His255Leu)
c.899A>T (p.His300Leu)
n.911A>T
n.615A>T
1g.117147758T>CCA341808374VTCN1c.749A>G (p.His250Arg)
c.401A>G (p.His134Arg)
c.758A>G (p.His253Arg)
c.464A>G (p.His155Arg)
n.944A>G
n.648A>G
c.800A>G (p.His267Arg)
c.803A>G (p.His268Arg)
c.764A>G (p.His255Arg)
c.899A>G (p.His300Arg)
n.911A>G
n.615A>G
1g.117147758T>GCA341808376VTCN1c.749A>C (p.His250Pro)
c.401A>C (p.His134Pro)
c.758A>C (p.His253Pro)
c.464A>C (p.His155Pro)
n.944A>C
n.648A>C
c.800A>C (p.His267Pro)
c.803A>C (p.His268Pro)
c.764A>C (p.His255Pro)
c.899A>C (p.His300Pro)
n.911A>C
n.615A>C
 COSMIC
1g.117147759G>ACA341808379VTCN1c.748C>T (p.His250Tyr)
c.400C>T (p.His134Tyr)
c.757C>T (p.His253Tyr)
c.463C>T (p.His155Tyr)
n.943C>T
n.647C>T
c.799C>T (p.His267Tyr)
c.802C>T (p.His268Tyr)
c.763C>T (p.His255Tyr)
c.898C>T (p.His300Tyr)
n.910C>T
n.614C>T
1g.117147759G>CCA341808381VTCN1c.748C>G (p.His250Asp)
c.400C>G (p.His134Asp)
c.757C>G (p.His253Asp)
c.463C>G (p.His155Asp)
n.943C>G
n.647C>G
c.799C>G (p.His267Asp)
c.802C>G (p.His268Asp)
c.763C>G (p.His255Asp)
c.898C>G (p.His300Asp)
n.910C>G
n.614C>G
1g.117147759G>TCA341808383VTCN1c.748C>A (p.His250Asn)
c.400C>A (p.His134Asn)
c.757C>A (p.His253Asn)
c.463C>A (p.His155Asn)
n.943C>A
n.647C>A
c.799C>A (p.His267Asn)
c.802C>A (p.His268Asn)
c.763C>A (p.His255Asn)
c.898C>A (p.His300Asn)
n.910C>A
n.614C>A
1g.117147760A>CCA341808385VTCN1c.747T>G (p.Ser249Arg)
c.399T>G (p.Ser133Arg)
c.756T>G (p.Ser252Arg)
c.462T>G (p.Ser154Arg)
n.942T>G
n.646T>G
c.798T>G (p.Ser266Arg)
c.801T>G (p.Ser267Arg)
c.762T>G (p.Ser254Arg)
c.897T>G (p.Ser299Arg)
n.909T>G
n.613T>G
1g.117147760A>GCA419932445VTCN1c.747T>C (p.Ser249=)
c.399T>C (p.Ser133=)
c.756T>C (p.Ser252=)
c.462T>C (p.Ser154=)
n.942T>C
n.646T>C
c.798T>C (p.Ser266=)
c.801T>C (p.Ser267=)
c.762T>C (p.Ser254=)
c.897T>C (p.Ser299=)
n.909T>C
n.613T>C
1g.117147760A>TCA341808386VTCN1c.747T>A (p.Ser249Arg)
c.399T>A (p.Ser133Arg)
c.756T>A (p.Ser252Arg)
c.462T>A (p.Ser154Arg)
n.942T>A
n.646T>A
c.798T>A (p.Ser266Arg)
c.801T>A (p.Ser267Arg)
c.762T>A (p.Ser254Arg)
c.897T>A (p.Ser299Arg)
n.909T>A
n.613T>A

Number of alleles fetched