Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.111410074_111410766delCA2580612296DCXc.-23+134_326del
c.-22-345_326del
c.-34_326del
c.210_569del
c.185_544del
n.219-345_566del
 ClinVar
Xg.111410231A>CCA518114654DCXc.168T>G (p.Arg56=)
c.411T>G (p.Arg137=)
c.386T>G
n.408T>G
Xg.111410231A>GCA518114655DCXc.168T>C (p.Arg56=)
c.411T>C (p.Arg137=)
c.386T>C
n.408T>C
Xg.111410231A>TCA518114656DCXc.168T>A (p.Arg56=)
c.411T>A (p.Arg137=)
c.386T>A
n.408T>A
Xg.111410232C>ACA414246964DCXc.167G>T (p.Arg56Leu)
c.410G>T (p.Arg137Leu)
c.385G>T
n.407G>T
 ClinVar dbSNP
Xg.111410232C=CA2451700414DCXc.167G= (p.Arg56=)
c.410G= (p.Arg137=)
c.385G=
n.407G=
Xg.111410232C>GCA171860DCXc.167G>C (p.Arg56Pro)
c.410G>C (p.Arg137Pro)
c.385G>C
n.407G>C
 ClinVar dbSNP
Xg.111410232C>TCA414246965DCXc.167G>A (p.Arg56His)
c.410G>A (p.Arg137His)
c.385G>A
n.407G>A
 gnomAD v4 COSMIC COSMIC
Xg.111410233G>ACA414246966DCXc.166C>T (p.Arg56Cys)
c.409C>T (p.Arg137Cys)
c.384C>T
n.406C>T
Xg.111410233G>CCA414246967DCXc.166C>G (p.Arg56Gly)
c.409C>G (p.Arg137Gly)
c.384C>G
n.406C>G
Xg.111410233G>TCA414246968DCXc.166C>A (p.Arg56Ser)
c.409C>A (p.Arg137Ser)
c.384C>A
n.406C>A
Xg.111410234T>ACA518114658DCXc.165A>T (p.Val55=)
c.408A>T (p.Val136=)
c.383A>T
n.405A>T
Xg.111410234T>CCA518114659DCXc.165A>G (p.Val55=)
c.408A>G (p.Val136=)
c.383A>G
n.405A>G
Xg.111410234T>GCA518114660DCXc.165A>C (p.Val55=)
c.408A>C (p.Val136=)
c.383A>C
n.405A>C
Xg.111410235A>CCA414246969DCXc.164T>G (p.Val55Gly)
c.407T>G (p.Val136Gly)
c.382T>G
n.404T>G
Xg.111410235A>GCA414246970DCXc.164T>C (p.Val55Ala)
c.407T>C (p.Val136Ala)
c.382T>C
n.404T>C
Xg.111410235A>TCA414246971DCXc.164T>A (p.Val55Glu)
c.407T>A (p.Val136Glu)
c.382T>A
n.404T>A
Xg.111410236C>ACA414246974DCXc.163G>T (p.Val55Leu)
c.406G>T (p.Val136Leu)
c.381G>T
n.403G>T
 dbSNP gnomAD v2
Xg.111410236C=CA2451700415DCXc.163G= (p.Val55=)
c.406G= (p.Val136=)
c.381G=
n.403G=
Xg.111410236C>GCA414246972DCXc.163G>C (p.Val55Leu)
c.406G>C (p.Val136Leu)
c.381G>C
n.403G>C
Xg.111410236C>TCA414246973DCXc.163G>A (p.Val55Ile)
c.406G>A (p.Val136Ile)
c.381G>A
n.403G>A
Xg.111410237C>ACA414246975DCXc.162G>T (p.Lys54Asn)
c.405G>T (p.Lys135Asn)
c.380G>T
n.402G>T
Xg.111410237C=CA2451700416DCXc.162G= (p.Lys54=)
c.405G= (p.Lys135=)
c.380G=
n.402G=
Xg.111410237C>GCA414246976DCXc.162G>C (p.Lys54Asn)
c.405G>C (p.Lys135Asn)
c.380G>C
n.402G>C
 ClinVar dbSNP
Xg.111410237C>TCA518114663DCXc.162G>A (p.Lys54=)
c.405G>A (p.Lys135=)
c.380G>A
n.402G>A
Xg.111410238T>ACA414246977DCXc.161A>T (p.Lys54Met)
c.404A>T (p.Lys135Met)
c.379A>T
n.401A>T
Xg.111410238T>CCA414246978DCXc.161A>G (p.Lys54Arg)
c.404A>G (p.Lys135Arg)
c.379A>G
n.401A>G
Xg.111410238T>GCA414246979DCXc.161A>C (p.Lys54Thr)
c.404A>C (p.Lys135Thr)
c.379A>C
n.401A>C
Xg.111410239T>ACA414246980DCXc.160A>T (p.Lys54Ter)
c.403A>T (p.Lys135Ter)
c.378A>T
n.400A>T
Xg.111410239T>CCA414246982DCXc.160A>G (p.Lys54Glu)
c.403A>G (p.Lys135Glu)
c.378A>G
n.400A>G
Xg.111410239T>GCA414246981DCXc.160A>C (p.Lys54Gln)
c.403A>C (p.Lys135Gln)
c.378A>C
n.400A>C
Xg.111410240C>ACA414246983DCXc.159G>T (p.Lys53Asn)
c.402G>T (p.Lys134Asn)
c.377G>T
n.399G>T
Xg.111410240C>GCA414246984DCXc.159G>C (p.Lys53Asn)
c.402G>C (p.Lys134Asn)
c.377G>C
n.399G>C
Xg.111410240C>TCA518114665DCXc.159G>A (p.Lys53=)
c.402G>A (p.Lys134=)
c.377G>A
n.399G>A
Xg.111410241T>ACA414246985DCXc.158A>T (p.Lys53Met)
c.401A>T (p.Lys134Met)
c.376A>T
n.398A>T
Xg.111410241T>CCA414246986DCXc.158A>G (p.Lys53Arg)
c.401A>G (p.Lys134Arg)
c.376A>G
n.398A>G
 ClinVar dbSNP gnomAD v4
Xg.111410241T>GCA414246987DCXc.158A>C (p.Lys53Thr)
c.401A>C (p.Lys134Thr)
c.376A>C
n.398A>C
Xg.111410241T=CA2451700417DCXc.158A= (p.Lys53=)
c.401A= (p.Lys134=)
c.376A=
n.398A=
Xg.111410242T>ACA414246988DCXc.157A>T (p.Lys53Ter)
c.400A>T (p.Lys134Ter)
c.375A>T
n.397A>T
Xg.111410242T>CCA414246989DCXc.157A>G (p.Lys53Glu)
c.400A>G (p.Lys134Glu)
c.375A>G
n.397A>G
Xg.111410242T>GCA414246990DCXc.157A>C (p.Lys53Gln)
c.400A>C (p.Lys134Gln)
c.375A>C
n.397A>C
Xg.111410243G>ACA518114667DCXc.156C>T (p.Ala52=)
c.399C>T (p.Ala133=)
c.374C>T
n.396C>T
Xg.111410243G>CCA518114668DCXc.156C>G (p.Ala52=)
c.399C>G (p.Ala133=)
c.374C>G
n.396C>G
Xg.111410243G>TCA518114669DCXc.156C>A (p.Ala52=)
c.399C>A (p.Ala133=)
c.374C>A
n.396C>A
 COSMIC
Xg.111410244G>ACA414246991DCXc.155C>T (p.Ala52Val)
c.398C>T (p.Ala133Val)
c.373C>T
n.395C>T
Xg.111410244G>CCA414246992DCXc.155C>G (p.Ala52Gly)
c.398C>G (p.Ala133Gly)
c.373C>G
n.395C>G
Xg.111410244G=CA2451700419DCXc.155C= (p.Ala52=)
c.398C= (p.Ala133=)
c.373C=
n.395C=
Xg.111410244G>TCA414246993DCXc.155C>A (p.Ala52Asp)
c.398C>A (p.Ala133Asp)
c.373C>A
n.395C>A
 ClinVar dbSNP
Xg.111410244_111410248delinsGCTTTCA2451700418DCXc.151_155delinsAAAGC (p.Lys51=)
c.394_398delinsAAAGC (p.Lys132=)
c.369_373delinsAAAGC
n.391_395delinsAAAGC
Xg.111410245C>ACA414246994DCXc.154G>T (p.Ala52Ser)
c.397G>T (p.Ala133Ser)
c.372G>T
n.394G>T
Xg.111410245C>GCA414246995DCXc.154G>C (p.Ala52Pro)
c.397G>C (p.Ala133Pro)
c.372G>C
n.394G>C
Xg.111410245C>TCA414246996DCXc.154G>A (p.Ala52Thr)
c.397G>A (p.Ala133Thr)
c.372G>A
n.394G>A
Xg.111410248_111410251delCA171859DCXc.151_154del (p.Lys51ProfsTer?)
c.394_397del (p.Lys132ProfsTer?)
c.369_372del
n.391_394del
 ClinVar dbSNP
Xg.111410246T>ACA414246997DCXc.153A>T (p.Lys51Asn)
c.396A>T (p.Lys132Asn)
c.371A>T
n.393A>T
Xg.111410246T>CCA518114671DCXc.153A>G (p.Lys51=)
c.396A>G (p.Lys132=)
c.371A>G
n.393A>G
Xg.111410246T>GCA414246998DCXc.153A>C (p.Lys51Asn)
c.396A>C (p.Lys132Asn)
c.371A>C
n.393A>C
Xg.111410247T>ACA414246999DCXc.152A>T (p.Lys51Ile)
c.395A>T (p.Lys132Ile)
c.370A>T
n.392A>T
Xg.111410247T>CCA414247000DCXc.152A>G (p.Lys51Arg)
c.395A>G (p.Lys132Arg)
c.370A>G
n.392A>G
Xg.111410247T>GCA414247001DCXc.152A>C (p.Lys51Thr)
c.395A>C (p.Lys132Thr)
c.370A>C
n.392A>C
Xg.111410248T>ACA414247002DCXc.151A>T (p.Lys51Ter)
c.394A>T (p.Lys132Ter)
c.369A>T
n.391A>T
Xg.111410248T>CCA414247003DCXc.151A>G (p.Lys51Glu)
c.394A>G (p.Lys132Glu)
c.369A>G
n.391A>G
Xg.111410248T>GCA414247004DCXc.151A>C (p.Lys51Gln)
c.394A>C (p.Lys132Gln)
c.369A>C
n.391A>C
Xg.111410249C>ACA171856DCXc.150G>T (p.Lys50Asn)
c.393G>T (p.Lys131Asn)
c.368G>T
n.390G>T
 ClinVar dbSNP
Xg.111410249C=CA2451700420DCXc.150G= (p.Lys50=)
c.393G= (p.Lys131=)
c.368G=
n.390G=
Xg.111410249C>GCA414247005DCXc.150G>C (p.Lys50Asn)
c.393G>C (p.Lys131Asn)
c.368G>C
n.390G>C
Xg.111410249C>TCA518114675DCXc.150G>A (p.Lys50=)
c.393G>A (p.Lys131=)
c.368G>A
n.390G>A
 gnomAD v4
Xg.111410250T>ACA414247008DCXc.149A>T (p.Lys50Met)
c.392A>T (p.Lys131Met)
c.367A>T
n.389A>T
Xg.111410250T>CCA414247006DCXc.149A>G (p.Lys50Arg)
c.392A>G (p.Lys131Arg)
c.367A>G
n.389A>G
Xg.111410250T>GCA414247007DCXc.149A>C (p.Lys50Thr)
c.392A>C (p.Lys131Thr)
c.367A>C
n.389A>C
Xg.111410251T>ACA414247009DCXc.148A>T (p.Lys50Ter)
c.391A>T (p.Lys131Ter)
c.366A>T
n.388A>T
Xg.111410251T>CCA414247010DCXc.148A>G (p.Lys50Glu)
c.391A>G (p.Lys131Glu)
c.366A>G
n.388A>G
Xg.111410251T>GCA414247011DCXc.148A>C (p.Lys50Gln)
c.391A>C (p.Lys131Gln)
c.366A>C
n.388A>C
Xg.111410252C>ACA414247012DCXc.147G>T (p.Glu49Asp)
c.390G>T (p.Glu130Asp)
c.365G>T
n.387G>T
Xg.111410252C>GCA414247013DCXc.147G>C (p.Glu49Asp)
c.390G>C (p.Glu130Asp)
c.365G>C
n.387G>C
Xg.111410252C>TCA518114679DCXc.147G>A (p.Glu49=)
c.390G>A (p.Glu130=)
c.365G>A
n.387G>A
Xg.111410253T>ACA414247014DCXc.146A>T (p.Glu49Val)
c.389A>T (p.Glu130Val)
c.364A>T
n.386A>T
Xg.111410253T>CCA414247015DCXc.146A>G (p.Glu49Gly)
c.389A>G (p.Glu130Gly)
c.364A>G
n.386A>G
Xg.111410253T>GCA414247016DCXc.146A>C (p.Glu49Ala)
c.389A>C (p.Glu130Ala)
c.364A>C
n.386A>C
Xg.111410254C>ACA414247017DCXc.145G>T (p.Glu49Ter)
c.388G>T (p.Glu130Ter)
c.363G>T
n.385G>T
Xg.111410254C>GCA414247018DCXc.145G>C (p.Glu49Gln)
c.388G>C (p.Glu130Gln)
c.363G>C
n.385G>C
Xg.111410254C>TCA414247019DCXc.145G>A (p.Glu49Lys)
c.388G>A (p.Glu130Lys)
c.363G>A
n.385G>A
Xg.111410255A>CCA414247021DCXc.144T>G (p.Asn48Lys)
c.387T>G (p.Asn129Lys)
c.362T>G
n.384T>G
 gnomAD v4
Xg.111410255A>GCA518114683DCXc.144T>C (p.Asn48=)
c.387T>C (p.Asn129=)
c.362T>C
n.384T>C
Xg.111410255A>TCA414247020DCXc.144T>A (p.Asn48Lys)
c.387T>A (p.Asn129Lys)
c.362T>A
n.384T>A
Xg.111410256T>ACA414247022DCXc.143A>T (p.Asn48Ile)
c.386A>T (p.Asn129Ile)
c.361A>T
n.383A>T
Xg.111410256T>CCA414247023DCXc.143A>G (p.Asn48Ser)
c.386A>G (p.Asn129Ser)
c.361A>G
n.383A>G
Xg.111410256T>GCA414247024DCXc.143A>C (p.Asn48Thr)
c.386A>C (p.Asn129Thr)
c.361A>C
n.383A>C
Xg.111410257T>ACA414247025DCXc.142A>T (p.Asn48Tyr)
c.385A>T (p.Asn129Tyr)
c.360A>T
n.382A>T
Xg.111410257T>CCA414247026DCXc.142A>G (p.Asn48Asp)
c.385A>G (p.Asn129Asp)
c.360A>G
n.382A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.111410257T>GCA414247027DCXc.142A>C (p.Asn48His)
c.385A>C (p.Asn129His)
c.360A>C
n.382A>C
 gnomAD v4
Xg.111410257T=CA2451700421DCXc.142A= (p.Asn48=)
c.385A= (p.Asn129=)
c.360A=
n.382A=
Xg.111410258A>CCA414247029DCXc.141T>G (p.Ser47Arg)
c.384T>G (p.Ser128Arg)
c.359T>G
n.381T>G
Xg.111410258A>GCA518114687DCXc.141T>C (p.Ser47=)
c.384T>C (p.Ser128=)
c.359T>C
n.381T>C
 gnomAD v4
Xg.111410258A>TCA414247028DCXc.141T>A (p.Ser47Arg)
c.384T>A (p.Ser128Arg)
c.359T>A
n.381T>A
Xg.111410259C>ACA414247030DCXc.140G>T (p.Ser47Ile)
c.383G>T (p.Ser128Ile)
c.358G>T
n.380G>T
Xg.111410259C>GCA414247031DCXc.140G>C (p.Ser47Thr)
c.383G>C (p.Ser128Thr)
c.358G>C
n.380G>C
Xg.111410259C>TCA414247032DCXc.140G>A (p.Ser47Asn)
c.383G>A (p.Ser128Asn)
c.358G>A
n.380G>A
Xg.111410260T>ACA414247033DCXc.139A>T (p.Ser47Cys)
c.382A>T (p.Ser128Cys)
c.357A>T
n.379A>T
Xg.111410260T>CCA414247034DCXc.139A>G (p.Ser47Gly)
c.382A>G (p.Ser128Gly)
c.357A>G
n.379A>G
Xg.111410260T>GCA121600DCXc.139A>C (p.Ser47Arg)
c.382A>C (p.Ser128Arg)
c.357A>C
n.379A>C
 ClinVar dbSNP
Xg.111410260T=CA2451700422DCXc.139A= (p.Ser47=)
c.382A= (p.Ser128=)
c.357A=
n.379A=
Xg.111410261C>ACA518114688DCXc.138G>T (p.Leu46=)
c.381G>T (p.Leu127=)
c.356G>T
n.378G>T
Xg.111410261C>GCA518114689DCXc.138G>C (p.Leu46=)
c.381G>C (p.Leu127=)
c.356G>C
n.378G>C
Xg.111410261C>TCA518114690DCXc.138G>A (p.Leu46=)
c.381G>A (p.Leu127=)
c.356G>A
n.378G>A
Xg.111410262A>CCA414247037DCXc.137T>G (p.Leu46Arg)
c.380T>G (p.Leu127Arg)
c.355T>G
n.377T>G
Xg.111410262A>GCA414247035DCXc.137T>C (p.Leu46Pro)
c.380T>C (p.Leu127Pro)
c.355T>C
n.377T>C
Xg.111410262A>TCA414247036DCXc.137T>A (p.Leu46Gln)
c.380T>A (p.Leu127Gln)
c.355T>A
n.377T>A
Xg.111410263G>ACA518114692DCXc.136C>T (p.Leu46=)
c.379C>T (p.Leu127=)
c.354C>T
n.376C>T
Xg.111410263G>CCA414247038DCXc.136C>G (p.Leu46Val)
c.379C>G (p.Leu127Val)
c.354C>G
n.376C>G
Xg.111410263G>TCA414247039DCXc.136C>A (p.Leu46Met)
c.379C>A (p.Leu127Met)
c.354C>A
n.376C>A
 gnomAD v4
Xg.111410264T>ACA518114693DCXc.135A>T (p.Ala45=)
c.378A>T (p.Ala126=)
c.353A>T
n.375A>T
Xg.111410264T>CCA518114694DCXc.135A>G (p.Ala45=)
c.378A>G (p.Ala126=)
c.353A>G
n.375A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.111410264T>GCA518114695DCXc.135A>C (p.Ala45=)
c.378A>C (p.Ala126=)
c.353A>C
n.375A>C
Xg.111410264T=CA2451700423DCXc.135A= (p.Ala45=)
c.378A= (p.Ala126=)
c.353A=
n.375A=
Xg.111410265G>ACA414247040DCXc.134C>T (p.Ala45Val)
c.377C>T (p.Ala126Val)
c.352C>T
n.374C>T
Xg.111410265G>CCA414247041DCXc.134C>G (p.Ala45Gly)
c.377C>G (p.Ala126Gly)
c.352C>G
n.374C>G
Xg.111410265G=CA2451700424DCXc.134C= (p.Ala45=)
c.377C= (p.Ala126=)
c.352C=
n.374C=
Xg.111410265G>TCA414247042DCXc.134C>A (p.Ala45Glu)
c.377C>A (p.Ala126Glu)
c.352C>A
n.374C>A
 dbSNP
Xg.111410266C>ACA414247043DCXc.133G>T (p.Ala45Ser)
c.376G>T (p.Ala126Ser)
c.351G>T
n.373G>T
Xg.111410266C>GCA414247044DCXc.133G>C (p.Ala45Pro)
c.376G>C (p.Ala126Pro)
c.351G>C
n.373G>C
Xg.111410266C>TCA414247045DCXc.133G>A (p.Ala45Thr)
c.376G>A (p.Ala126Thr)
c.351G>A
n.373G>A
Xg.111410267C>ACA414247046DCXc.132G>T (p.Gln44His)
c.375G>T (p.Gln125His)
c.350G>T
n.372G>T
Xg.111410267C>GCA414247047DCXc.132G>C (p.Gln44His)
c.375G>C (p.Gln125His)
c.350G>C
n.372G>C
Xg.111410267C>TCA518114697DCXc.132G>A (p.Gln44=)
c.375G>A (p.Gln125=)
c.350G>A
n.372G>A
Xg.111410268T>ACA414247048DCXc.131A>T (p.Gln44Leu)
c.374A>T (p.Gln125Leu)
c.349A>T
n.371A>T
Xg.111410268T>CCA414247049DCXc.131A>G (p.Gln44Arg)
c.374A>G (p.Gln125Arg)
c.349A>G
n.371A>G
Xg.111410268T>GCA414247050DCXc.131A>C (p.Gln44Pro)
c.374A>C (p.Gln125Pro)
c.349A>C
n.371A>C
Xg.111410269G>ACA171853DCXc.130C>T (p.Gln44Ter)
c.373C>T (p.Gln125Ter)
c.348C>T
n.370C>T
 ClinVar dbSNP
Xg.111410269G>CCA414247052DCXc.130C>G (p.Gln44Glu)
c.373C>G (p.Gln125Glu)
c.348C>G
n.370C>G
Xg.111410269G=CA2451700425DCXc.130C= (p.Gln44=)
c.373C= (p.Gln125=)
c.348C=
n.370C=
Xg.111410269G>TCA414247051DCXc.130C>A (p.Gln44Lys)
c.373C>A (p.Gln125Lys)
c.348C>A
n.370C>A
Xg.111410270C>ACA414247053DCXc.129G>T (p.Leu43Phe)
c.372G>T (p.Leu124Phe)
c.347G>T
n.369G>T
Xg.111410270C>GCA414247054DCXc.129G>C (p.Leu43Phe)
c.372G>C (p.Leu124Phe)
c.347G>C
n.369G>C
Xg.111410270C>TCA518114701DCXc.129G>A (p.Leu43=)
c.372G>A (p.Leu124=)
c.347G>A
n.369G>A
Xg.111410271A=CA2451700426DCXc.128T= (p.Leu43=)
c.371T= (p.Leu124=)
c.346T=
n.368T=
Xg.111410271A>CCA414247055DCXc.128T>G (p.Leu43Trp)
c.371T>G (p.Leu124Trp)
c.346T>G
n.368T>G
Xg.111410271A>GCA171850DCXc.128T>C (p.Leu43Ser)
c.371T>C (p.Leu124Ser)
c.346T>C
n.368T>C
 ClinVar dbSNP
Xg.111410271A>TCA414247056DCXc.128T>A (p.Leu43Ter)
c.371T>A (p.Leu124Ter)
c.346T>A
n.368T>A
Xg.111410272A>CCA414247057DCXc.127T>G (p.Leu43Val)
c.370T>G (p.Leu124Val)
c.345T>G
n.367T>G
Xg.111410272A>GCA518114703DCXc.127T>C (p.Leu43=)
c.370T>C (p.Leu124=)
c.345T>C
n.367T>C
Xg.111410272A>TCA414247058DCXc.127T>A (p.Leu43Met)
c.370T>A (p.Leu124Met)
c.345T>A
n.367T>A
Xg.111410273G>ACA518114704DCXc.126C>T (p.Thr42=)
c.369C>T (p.Thr123=)
c.344C>T
n.366C>T
Xg.111410273G>CCA518114705DCXc.126C>G (p.Thr42=)
c.369C>G (p.Thr123=)
c.344C>G
n.366C>G
Xg.111410273G>TCA518114706DCXc.126C>A (p.Thr42=)
c.369C>A (p.Thr123=)
c.344C>A
n.366C>A
 gnomAD v4
Xg.111410274G>ACA414247059DCXc.125C>T (p.Thr42Ile)
c.368C>T (p.Thr123Ile)
c.343C>T
n.365C>T
Xg.111410274G>CCA414247060DCXc.125C>G (p.Thr42Ser)
c.368C>G (p.Thr123Ser)
c.343C>G
n.365C>G
Xg.111410274G>TCA414247061DCXc.125C>A (p.Thr42Asn)
c.368C>A (p.Thr123Asn)
c.343C>A
n.365C>A
Xg.111410274_111410275delinsGTCA2451700427DCXc.124_125delinsAC (p.Thr42=)
c.367_368delinsAC (p.Thr123=)
c.342_343delinsAC
n.364_365delinsAC
Xg.111410275T>ACA414247064DCXc.124A>T (p.Thr42Ser)
c.367A>T (p.Thr123Ser)
c.342A>T
n.364A>T
Xg.111410275T>CCA414247063DCXc.124A>G (p.Thr42Ala)
c.367A>G (p.Thr123Ala)
c.342A>G
n.364A>G
Xg.111410275T>GCA414247062DCXc.124A>C (p.Thr42Pro)
c.367A>C (p.Thr123Pro)
c.342A>C
n.364A>C
Xg.111410276delCA171849DCXc.124del (p.Thr42ProfsTer5)
c.367del (p.Thr123ProfsTer5)
c.342del
n.364del
 ClinVar dbSNP
Xg.111410276T>ACA414247065DCXc.123A>T (p.Arg41Ser)
c.366A>T (p.Arg122Ser)
c.341A>T
n.363A>T
Xg.111410276T>CCA518114710DCXc.123A>G (p.Arg41=)
c.366A>G (p.Arg122=)
c.341A>G
n.363A>G
Xg.111410276T>GCA414247066DCXc.123A>C (p.Arg41Ser)
c.366A>C (p.Arg122Ser)
c.341A>C
n.363A>C
Xg.111410277C>ACA414247067DCXc.122G>T (p.Arg41Ile)
c.365G>T (p.Arg122Ile)
c.340G>T
n.362G>T
Xg.111410277C=CA2451700428DCXc.122G= (p.Arg41=)
c.365G= (p.Arg122=)
c.340G=
n.362G=
Xg.111410277C>GCA414247068DCXc.122G>C (p.Arg41Thr)
c.365G>C (p.Arg122Thr)
c.340G>C
n.362G>C
Xg.111410277C>TCA334420944DCXc.122G>A (p.Arg41Lys)
c.365G>A (p.Arg122Lys)
c.340G>A
n.362G>A
 dbSNP
Xg.111410278T>ACA414247069DCXc.121A>T (p.Arg41Ter)
c.364A>T (p.Arg122Ter)
c.339A>T
n.361A>T
Xg.111410278T>CCA414247070DCXc.121A>G (p.Arg41Gly)
c.364A>G (p.Arg122Gly)
c.339A>G
n.361A>G
Xg.111410278T>GCA518114712DCXc.121A>C (p.Arg41=)
c.364A>C (p.Arg122=)
c.339A>C
n.361A>C
Xg.111410278_111410279insACA2579680639DCXc.120_121insT (p.Arg41Ter)
c.363_364insT (p.Arg122Ter)
c.338_339insT
n.360_361insT
Xg.111410279G>ACA518114713DCXc.120C>T (p.Thr40=)
c.363C>T (p.Thr121=)
c.338C>T
n.360C>T
 gnomAD v4
Xg.111410279G>CCA518114714DCXc.120C>G (p.Thr40=)
c.363C>G (p.Thr121=)
c.338C>G
n.360C>G
Xg.111410279G>TCA518114715DCXc.120C>A (p.Thr40=)
c.363C>A (p.Thr121=)
c.338C>A
n.360C>A
Xg.111410280G>ACA414247071DCXc.119C>T (p.Thr40Ile)
c.362C>T (p.Thr121Ile)
c.337C>T
n.359C>T
 ClinVar dbSNP gnomAD v4
Xg.111410280G>CCA414247072DCXc.119C>G (p.Thr40Ser)
c.362C>G (p.Thr121Ser)
c.337C>G
n.359C>G
Xg.111410280G>TCA414247073DCXc.119C>A (p.Thr40Asn)
c.362C>A (p.Thr121Asn)
c.337C>A
n.359C>A
Xg.111410281T>ACA414247074DCXc.118A>T (p.Thr40Ser)
c.361A>T (p.Thr121Ser)
c.336A>T
n.358A>T
Xg.111410281T>CCA414247075DCXc.118A>G (p.Thr40Ala)
c.361A>G (p.Thr121Ala)
c.336A>G
n.358A>G
Xg.111410281T>GCA414247076DCXc.118A>C (p.Thr40Pro)
c.361A>C (p.Thr121Pro)
c.336A>C
n.358A>C
 gnomAD v4 COSMIC COSMIC
Xg.111410282T>ACA518114717DCXc.117A>T (p.Arg39=)
c.360A>T (p.Arg120=)
c.335A>T
n.357A>T
Xg.111410282T>CCA518114718DCXc.117A>G (p.Arg39=)
c.360A>G (p.Arg120=)
c.335A>G
n.357A>G
 gnomAD v4
Xg.111410282T>GCA518114719DCXc.117A>C (p.Arg39=)
c.360A>C (p.Arg120=)
c.335A>C
n.357A>C
Xg.111410283C>ACA414247077DCXc.116G>T (p.Arg39Leu)
c.359G>T (p.Arg120Leu)
c.334G>T
n.356G>T
Xg.111410283C=CA2451700429DCXc.116G= (p.Arg39=)
c.359G= (p.Arg120=)
c.334G=
n.356G=
Xg.111410283C>GCA414247078DCXc.116G>C (p.Arg39Pro)
c.359G>C (p.Arg120Pro)
c.334G>C
n.356G>C
Xg.111410283C>TCA334420945DCXc.116G>A (p.Arg39Gln)
c.359G>A (p.Arg120Gln)
c.334G>A
n.356G>A
 dbSNP COSMIC COSMIC
Xg.111410284G>ACA171846DCXc.115C>T (p.Arg39Ter)
c.358C>T (p.Arg120Ter)
c.333C>T
n.355C>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.111410284G>CCA414247079DCXc.115C>G (p.Arg39Gly)
c.358C>G (p.Arg120Gly)
c.333C>G
n.355C>G
 COSMIC COSMIC
Xg.111410284G=CA2451700430DCXc.115C= (p.Arg39=)
c.358C= (p.Arg120=)
c.333C=
n.355C=
Xg.111410284G>TCA518114721DCXc.115C>A (p.Arg39=)
c.358C>A (p.Arg120=)
c.333C>A
n.355C>A
Xg.111410285G>ACA518114722DCXc.114C>T (p.Tyr38=)
c.357C>T (p.Tyr119=)
c.332C>T
n.354C>T
Xg.111410285G>CCA414247080DCXc.114C>G (p.Tyr38Ter)
c.357C>G (p.Tyr119Ter)
c.332C>G
n.354C>G
Xg.111410285G>TCA414247081DCXc.114C>A (p.Tyr38Ter)
c.357C>A (p.Tyr119Ter)
c.332C>A
n.354C>A
Xg.111410286T>ACA414247082DCXc.113A>T (p.Tyr38Phe)
c.356A>T (p.Tyr119Phe)
c.331A>T
n.353A>T
Xg.111410286T>CCA414247083DCXc.113A>G (p.Tyr38Cys)
c.356A>G (p.Tyr119Cys)
c.331A>G
n.353A>G
Xg.111410286T>GCA414247084DCXc.113A>C (p.Tyr38Ser)
c.356A>C (p.Tyr119Ser)
c.331A>C
n.353A>C
Xg.111410287A>CCA414247085DCXc.112T>G (p.Tyr38Asp)
c.355T>G (p.Tyr119Asp)
c.330T>G
n.352T>G
Xg.111410287A>GCA414247087DCXc.112T>C (p.Tyr38His)
c.355T>C (p.Tyr119His)
c.330T>C
n.352T>C
Xg.111410287A>TCA414247086DCXc.112T>A (p.Tyr38Asn)
c.355T>A (p.Tyr119Asn)
c.330T>A
n.352T>A
Xg.111410288G>ACA518114724DCXc.111C>T (p.Phe37=)
c.354C>T (p.Phe118=)
c.329C>T
n.351C>T
Xg.111410288G>CCA414247088DCXc.111C>G (p.Phe37Leu)
c.354C>G (p.Phe118Leu)
c.329C>G
n.351C>G
Xg.111410288G>TCA414247089DCXc.111C>A (p.Phe37Leu)
c.354C>A (p.Phe118Leu)
c.329C>A
n.351C>A
Xg.111410289A>CCA414247090DCXc.110T>G (p.Phe37Cys)
c.353T>G (p.Phe118Cys)
c.328T>G
n.350T>G
Xg.111410289A>GCA414247091DCXc.110T>C (p.Phe37Ser)
c.353T>C (p.Phe118Ser)
c.328T>C
n.350T>C
Xg.111410289A>TCA414247092DCXc.110T>A (p.Phe37Tyr)
c.353T>A (p.Phe118Tyr)
c.328T>A
n.350T>A
Xg.111410290A=CA2451700431DCXc.109T= (p.Phe37=)
c.352T= (p.Phe118=)
c.327T=
n.349T=
Xg.111410290A>CCA414247093DCXc.109T>G (p.Phe37Val)
c.352T>G (p.Phe118Val)
c.327T>G
n.349T>G
 dbSNP
Xg.111410290A>GCA414247095DCXc.109T>C (p.Phe37Leu)
c.352T>C (p.Phe118Leu)
c.327T>C
n.349T>C
Xg.111410290A>TCA414247094DCXc.109T>A (p.Phe37Ile)
c.352T>A (p.Phe118Ile)
c.327T>A
n.349T>A
Xg.111410291G>ACA518114728DCXc.108C>T (p.Ser36=)
c.351C>T (p.Ser117=)
c.326C>T
n.348C>T
Xg.111410291G>CCA414247096DCXc.108C>G (p.Ser36Arg)
c.351C>G (p.Ser117Arg)
c.326C>G
n.348C>G
Xg.111410291G>TCA414247097DCXc.108C>A (p.Ser36Arg)
c.351C>A (p.Ser117Arg)
c.326C>A
n.348C>A
Xg.111410292C>ACA414247098DCXc.107G>T (p.Ser36Ile)
c.350G>T (p.Ser117Ile)
c.325G>T
n.347G>T
Xg.111410292C>GCA414247099DCXc.107G>C (p.Ser36Thr)
c.350G>C (p.Ser117Thr)
c.325G>C
n.347G>C
Xg.111410292C>TCA414247100DCXc.107G>A (p.Ser36Asn)
c.350G>A (p.Ser117Asn)
c.325G>A
n.347G>A
Xg.111410293T>ACA414247101DCXc.106A>T (p.Ser36Cys)
c.349A>T (p.Ser117Cys)
c.324A>T
n.346A>T
Xg.111410293T>CCA414247102DCXc.106A>G (p.Ser36Gly)
c.349A>G (p.Ser117Gly)
c.324A>G
n.346A>G
 gnomAD v4
Xg.111410293T>GCA414247103DCXc.106A>C (p.Ser36Arg)
c.349A>C (p.Ser117Arg)
c.324A>C
n.346A>C
Xg.111410294A>CCA414247104DCXc.105T>G (p.Cys35Trp)
c.348T>G (p.Cys116Trp)
c.323T>G
n.345T>G
Xg.111410294A>GCA518114730DCXc.105T>C (p.Cys35=)
c.348T>C (p.Cys116=)
c.323T>C
n.345T>C
Xg.111410294A>TCA414247105DCXc.105T>A (p.Cys35Ter)
c.348T>A (p.Cys116Ter)
c.323T>A
n.345T>A
 COSMIC COSMIC
Xg.111410295C>ACA414247106DCXc.104G>T (p.Cys35Phe)
c.347G>T (p.Cys116Phe)
c.322G>T
n.344G>T
Xg.111410295C>GCA414247107DCXc.104G>C (p.Cys35Ser)
c.347G>C (p.Cys116Ser)
c.322G>C
n.344G>C
Xg.111410295C>TCA414247108DCXc.104G>A (p.Cys35Tyr)
c.347G>A (p.Cys116Tyr)
c.322G>A
n.344G>A
Xg.111410296A=CA2451700432DCXc.103T= (p.Cys35=)
c.346T= (p.Cys116=)
c.321T=
n.343T=
Xg.111410296A>CCA414247109DCXc.103T>G (p.Cys35Gly)
c.346T>G (p.Cys116Gly)
c.321T>G
n.343T>G
Xg.111410296A>GCA414247110DCXc.103T>C (p.Cys35Arg)
c.346T>C (p.Cys116Arg)
c.321T>C
n.343T>C
 ClinVar
Xg.111410296A>TCA334420946DCXc.103T>A (p.Cys35Ser)
c.346T>A (p.Cys116Ser)
c.321T>A
n.343T>A
 dbSNP
Xg.111410297G>ACA518114732DCXc.102C>T (p.His34=)
c.345C>T (p.His115=)
c.320C>T
n.342C>T
 gnomAD v4
Xg.111410297G>CCA414247111DCXc.102C>G (p.His34Gln)
c.345C>G (p.His115Gln)
c.320C>G
n.342C>G
Xg.111410297G>TCA414247112DCXc.102C>A (p.His34Gln)
c.345C>A (p.His115Gln)
c.320C>A
n.342C>A
Xg.111410298T>ACA414247113DCXc.101A>T (p.His34Leu)
c.344A>T (p.His115Leu)
c.319A>T
n.341A>T
Xg.111410298T>CCA414247114DCXc.101A>G (p.His34Arg)
c.344A>G (p.His115Arg)
c.319A>G
n.341A>G
Xg.111410298T>GCA414247115DCXc.101A>C (p.His34Pro)
c.344A>C (p.His115Pro)
c.319A>C
n.341A>C
Xg.111410299G>ACA414247118DCXc.100C>T (p.His34Tyr)
c.343C>T (p.His115Tyr)
c.318C>T
n.340C>T
Xg.111410299G>CCA414247117DCXc.100C>G (p.His34Asp)
c.343C>G (p.His115Asp)
c.318C>G
n.340C>G
Xg.111410299G>TCA414247116DCXc.100C>A (p.His34Asn)
c.343C>A (p.His115Asn)
c.318C>A
n.340C>A
Xg.111410303_111410316delCA2695235808DCXc.87_100del (p.Thr30LeufsTer2)
c.330_343del (p.Thr111LeufsTer2)
c.305_318del
n.327_340del
Xg.111410300G>ACA518114735DCXc.99C>T (p.Ala33=)
c.342C>T (p.Ala114=)
c.317C>T
n.339C>T
Xg.111410300G>CCA518114736DCXc.99C>G (p.Ala33=)
c.342C>G (p.Ala114=)
c.317C>G
n.339C>G
 gnomAD v4
Xg.111410300G>TCA518114737DCXc.99C>A (p.Ala33=)
c.342C>A (p.Ala114=)
c.317C>A
n.339C>A
 COSMIC
Xg.111410301G>ACA414247119DCXc.98C>T (p.Ala33Val)
c.341C>T (p.Ala114Val)
c.316C>T
n.338C>T
 dbSNP
Xg.111410301G>CCA414247120DCXc.98C>G (p.Ala33Gly)
c.341C>G (p.Ala114Gly)
c.316C>G
n.338C>G
Xg.111410301G=CA2451700433DCXc.98C= (p.Ala33=)
c.341C= (p.Ala114=)
c.316C=
n.338C=
Xg.111410301G>TCA414247121DCXc.98C>A (p.Ala33Asp)
c.341C>A (p.Ala114Asp)
c.316C>A
n.338C>A
Xg.111410302C>ACA414247122DCXc.97G>T (p.Ala33Ser)
c.340G>T (p.Ala114Ser)
c.315G>T
n.337G>T
Xg.111410302C>GCA414247123DCXc.97G>C (p.Ala33Pro)
c.340G>C (p.Ala114Pro)
c.315G>C
n.337G>C
Xg.111410302C>TCA414247124DCXc.97G>A (p.Ala33Thr)
c.340G>A (p.Ala114Thr)
c.315G>A
n.337G>A
Xg.111410303G>ACA10493342DCXc.96C>T (p.Ser32=)
c.339C>T (p.Ser113=)
c.314C>T
n.336C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111410303G>CCA414247126DCXc.96C>G (p.Ser32Arg)
c.339C>G (p.Ser113Arg)
c.314C>G
n.336C>G
Xg.111410303G=CA2451700434DCXc.96C= (p.Ser32=)
c.339C= (p.Ser113=)
c.314C=
n.336C=
Xg.111410303G>TCA414247125DCXc.96C>A (p.Ser32Arg)
c.339C>A (p.Ser113Arg)
c.314C>A
n.336C>A
Xg.111410304C>ACA414247127DCXc.95G>T (p.Ser32Ile)
c.338G>T (p.Ser113Ile)
c.313G>T
n.335G>T
Xg.111410304C=CA2451700435DCXc.95G= (p.Ser32=)
c.338G= (p.Ser113=)
c.313G=
n.335G=
Xg.111410304C>GCA414247128DCXc.95G>C (p.Ser32Thr)
c.338G>C (p.Ser113Thr)
c.313G>C
n.335G>C
Xg.111410304C>TCA172089DCXc.95G>A (p.Ser32Asn)
c.338G>A (p.Ser113Asn)
c.313G>A
n.335G>A
 ClinVar dbSNP
Xg.111410305T>ACA414247129DCXc.94A>T (p.Ser32Cys)
c.337A>T (p.Ser113Cys)
c.312A>T
n.334A>T
Xg.111410305T>CCA414247130DCXc.94A>G (p.Ser32Gly)
c.337A>G (p.Ser113Gly)
c.312A>G
n.334A>G
Xg.111410305T>GCA414247131DCXc.94A>C (p.Ser32Arg)
c.337A>C (p.Ser113Arg)
c.312A>C
n.334A>C
Xg.111410306G>ACA518114738DCXc.93C>T (p.His31=)
c.336C>T (p.His112=)
c.311C>T
n.333C>T
Xg.111410306G>CCA414247132DCXc.93C>G (p.His31Gln)
c.336C>G (p.His112Gln)
c.311C>G
n.333C>G
Xg.111410306G>TCA414247133DCXc.93C>A (p.His31Gln)
c.336C>A (p.His112Gln)
c.311C>A
n.333C>A
Xg.111410307T>ACA414247134DCXc.92A>T (p.His31Leu)
c.335A>T (p.His112Leu)
c.310A>T
n.332A>T
Xg.111410307T>CCA414247135DCXc.92A>G (p.His31Arg)
c.335A>G (p.His112Arg)
c.310A>G
n.332A>G
 gnomAD v4
Xg.111410307T>GCA414247136DCXc.92A>C (p.His31Pro)
c.335A>C (p.His112Pro)
c.310A>C
n.332A>C
Xg.111410307dupCA2695235809DCXc.92dup (p.His31GlnfsTer6)
c.335dup (p.His112GlnfsTer6)
c.310dup
n.332dup
Xg.111410308G>ACA414247137DCXc.91C>T (p.His31Tyr)
c.334C>T (p.His112Tyr)
c.309C>T
n.331C>T
Xg.111410308G>CCA414247139DCXc.91C>G (p.His31Asp)
c.334C>G (p.His112Asp)
c.309C>G
n.331C>G
Xg.111410308G>TCA414247138DCXc.91C>A (p.His31Asn)
c.334C>A (p.His112Asn)
c.309C>A
n.331C>A
Xg.111410309A>CCA518114743DCXc.90T>G (p.Thr30=)
c.333T>G (p.Thr111=)
c.308T>G
n.330T>G
Xg.111410309A>GCA518114741DCXc.90T>C (p.Thr30=)
c.333T>C (p.Thr111=)
c.308T>C
n.330T>C
Xg.111410309A>TCA518114742DCXc.90T>A (p.Thr30=)
c.333T>A (p.Thr111=)
c.308T>A
n.330T>A
Xg.111410310G>ACA414247140DCXc.89C>T (p.Thr30Ile)
c.332C>T (p.Thr111Ile)
c.307C>T
n.329C>T
Xg.111410310G>CCA414247142DCXc.89C>G (p.Thr30Ser)
c.332C>G (p.Thr111Ser)
c.307C>G
n.329C>G
 gnomAD v4
Xg.111410310G>TCA414247141DCXc.89C>A (p.Thr30Asn)
c.332C>A (p.Thr111Asn)
c.307C>A
n.329C>A
 COSMIC
Xg.111410311T>ACA414247143DCXc.88A>T (p.Thr30Ser)
c.331A>T (p.Thr111Ser)
c.306A>T
n.328A>T
Xg.111410311T>CCA414247144DCXc.88A>G (p.Thr30Ala)
c.331A>G (p.Thr111Ala)
c.306A>G
n.328A>G
 dbSNP
Xg.111410311T>GCA414247145DCXc.88A>C (p.Thr30Pro)
c.331A>C (p.Thr111Pro)
c.306A>C
n.328A>C
Xg.111410312G>ACA334420947DCXc.87C>T (p.Pro29=)
c.330C>T (p.Pro110=)
c.305C>T
n.327C>T
 dbSNP gnomAD v4
Xg.111410312G>CCA518114746DCXc.87C>G (p.Pro29=)
c.330C>G (p.Pro110=)
c.305C>G
n.327C>G
Xg.111410312G=CA2451700436DCXc.87C= (p.Pro29=)
c.330C= (p.Pro110=)
c.305C=
n.327C=
Xg.111410312G>TCA518114748DCXc.87C>A (p.Pro29=)
c.330C>A (p.Pro110=)
c.305C>A
n.327C>A
Xg.111410313G>ACA414247146DCXc.86C>T (p.Pro29Leu)
c.329C>T (p.Pro110Leu)
c.304C>T
n.326C>T
Xg.111410313G>CCA414247147DCXc.86C>G (p.Pro29Arg)
c.329C>G (p.Pro110Arg)
c.304C>G
n.326C>G
Xg.111410313G=CA2451700437DCXc.86C= (p.Pro29=)
c.329C= (p.Pro110=)
c.304C=
n.326C=
Xg.111410313G>TCA414247148DCXc.86C>A (p.Pro29His)
c.329C>A (p.Pro110His)
c.304C>A
n.326C>A
Xg.111410314G>ACA414247149DCXc.85C>T (p.Pro29Ser)
c.328C>T (p.Pro110Ser)
c.303C>T
n.325C>T
Xg.111410314G>CCA414247150DCXc.85C>G (p.Pro29Ala)
c.328C>G (p.Pro110Ala)
c.303C>G
n.325C>G
Xg.111410314G>TCA414247151DCXc.85C>A (p.Pro29Thr)
c.328C>A (p.Pro110Thr)
c.303C>A
n.325C>A
Xg.111410317_111410321dupCA207586DCXc.81_85dup (p.Pro29LeufsTer20)
c.324_328dup (p.Pro110LeufsTer20)
c.299_303dup
n.321_325dup
 ClinVar dbSNP
Xg.111410315G>ACA10493343DCXc.84C>T (p.Ser28=)
c.327C>T (p.Ser109=)
c.302C>T
n.324C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.111410315G>CCA414247152DCXc.84C>G (p.Ser28Arg)
c.327C>G (p.Ser109Arg)
c.302C>G
n.324C>G
Xg.111410315G=CA2451700438DCXc.84C= (p.Ser28=)
c.327C= (p.Ser109=)
c.302C=
n.324C=
Xg.111410315G>TCA414247153DCXc.84C>A (p.Ser28Arg)
c.327C>A (p.Ser109Arg)
c.302C>A
n.324C>A
Xg.111410316C>ACA414247154DCXc.83G>T (p.Ser28Ile)
c.326G>T (p.Ser109Ile)
c.301G>T
n.323G>T
Xg.111410316C>GCA414247155DCXc.83G>C (p.Ser28Thr)
c.326G>C (p.Ser109Thr)
c.301G>C
n.323G>C
Xg.111410316C>TCA414247156DCXc.83G>A (p.Ser28Asn)
c.326G>A (p.Ser109Asn)
c.301G>A
n.323G>A
Xg.111410317T>ACA414247157DCXc.82A>T (p.Ser28Cys)
c.325A>T (p.Ser109Cys)
c.300A>T
n.322A>T
Xg.111410317T>CCA414247158DCXc.82A>G (p.Ser28Gly)
c.325A>G (p.Ser109Gly)
c.300A>G
n.322A>G
 gnomAD v4
Xg.111410317T>GCA414247159DCXc.82A>C (p.Ser28Arg)
c.325A>C (p.Ser109Arg)
c.300A>C
n.322A>C
Xg.111410318A>CCA518114760DCXc.81T>G (p.Pro27=)
c.324T>G (p.Pro108=)
c.299T>G
n.321T>G
 ClinVar
Xg.111410318A>GCA518114761DCXc.81T>C (p.Pro27=)
c.324T>C (p.Pro108=)
c.299T>C
n.321T>C
Xg.111410318A>TCA518114762DCXc.81T>A (p.Pro27=)
c.324T>A (p.Pro108=)
c.299T>A
n.321T>A
Xg.111410319G>ACA334420948DCXc.80C>T (p.Pro27Leu)
c.323C>T (p.Pro108Leu)
c.298C>T
n.320C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.111410319G>CCA414247160DCXc.80C>G (p.Pro27Arg)
c.323C>G (p.Pro108Arg)
c.298C>G
n.320C>G
 dbSNP
Xg.111410319G=CA2451700439DCXc.80C= (p.Pro27=)
c.323C= (p.Pro108=)
c.298C=
n.320C=
Xg.111410319G>TCA414247161DCXc.80C>A (p.Pro27His)
c.323C>A (p.Pro108His)
c.298C>A
n.320C>A
Xg.111410320G>ACA414247162DCXc.79C>T (p.Pro27Ser)
c.322C>T (p.Pro108Ser)
c.297C>T
n.319C>T
Xg.111410320G>CCA414247163DCXc.79C>G (p.Pro27Ala)
c.322C>G (p.Pro108Ala)
c.297C>G
n.319C>G
Xg.111410320G>TCA414247164DCXc.79C>A (p.Pro27Thr)
c.322C>A (p.Pro108Thr)
c.297C>A
n.319C>A
 COSMIC COSMIC
Xg.111410321C>ACA414247165DCXc.78G>T (p.Leu26Phe)
c.321G>T (p.Leu107Phe)
c.296G>T
n.318G>T
Xg.111410321C>GCA414247166DCXc.78G>C (p.Leu26Phe)
c.321G>C (p.Leu107Phe)
c.296G>C
n.318G>C
Xg.111410321C>TCA518114765DCXc.78G>A (p.Leu26=)
c.321G>A (p.Leu107=)
c.296G>A
n.318G>A
Xg.111410322A>CCA414247167DCXc.77T>G (p.Leu26Trp)
c.320T>G (p.Leu107Trp)
c.295T>G
n.317T>G
Xg.111410322A>GCA414247168DCXc.77T>C (p.Leu26Ser)
c.320T>C (p.Leu107Ser)
c.295T>C
n.317T>C
Xg.111410322A>TCA414247169DCXc.77T>A (p.Leu26Ter)
c.320T>A (p.Leu107Ter)
c.295T>A
n.317T>A
Xg.111410323A>CCA414247170DCXc.76T>G (p.Leu26Val)
c.319T>G (p.Leu107Val)
c.294T>G
n.316T>G
Xg.111410323A>GCA518114767DCXc.76T>C (p.Leu26=)
c.319T>C (p.Leu107=)
c.294T>C
n.316T>C
Xg.111410323A>TCA414247171DCXc.76T>A (p.Leu26Met)
c.319T>A (p.Leu107Met)
c.294T>A
n.316T>A
Xg.111410324C>ACA518114768DCXc.75G>T (p.Gly25=)
c.318G>T (p.Gly106=)
c.293G>T
n.315G>T
Xg.111410324C>GCA518114769DCXc.75G>C (p.Gly25=)
c.318G>C (p.Gly106=)
c.293G>C
n.315G>C
Xg.111410324C>TCA518114770DCXc.75G>A (p.Gly25=)
c.318G>A (p.Gly106=)
c.293G>A
n.315G>A
Xg.111410325C>ACA414247172DCXc.74G>T (p.Gly25Val)
c.317G>T (p.Gly106Val)
c.292G>T
n.314G>T
Xg.111410325C>GCA414247173DCXc.74G>C (p.Gly25Ala)
c.317G>C (p.Gly106Ala)
c.292G>C
n.314G>C
Xg.111410325C>TCA414247174DCXc.74G>A (p.Gly25Glu)
c.317G>A (p.Gly106Glu)
c.292G>A
n.314G>A
Xg.111410326C>ACA414247175DCXc.73G>T (p.Gly25Trp)
c.316G>T (p.Gly106Trp)
c.291G>T
n.313G>T
Xg.111410326C>GCA414247176DCXc.73G>C (p.Gly25Arg)
c.316G>C (p.Gly106Arg)
c.291G>C
n.313G>C
Xg.111410326C>TCA414247177DCXc.73G>A (p.Gly25Arg)
c.316G>A (p.Gly106Arg)
c.291G>A
n.313G>A
 gnomAD v4
Xg.111410326_111410327insTCA2695235810DCXc.72_73insA (p.Gly25ArgfsTer4)
c.315_316insA (p.Gly106ArgfsTer4)
c.290_291insA
n.312_313insA
Xg.111410327A>CCA414247178DCXc.72T>G (p.Asn24Lys)
c.315T>G (p.Asn105Lys)
c.290T>G
n.312T>G
Xg.111410327A>GCA518114773DCXc.72T>C (p.Asn24=)
c.315T>C (p.Asn105=)
c.290T>C
n.312T>C
Xg.111410327A>TCA414247179DCXc.72T>A (p.Asn24Lys)
c.315T>A (p.Asn105Lys)
c.290T>A
n.312T>A
Xg.111410328T>ACA414247182DCXc.71A>T (p.Asn24Ile)
c.314A>T (p.Asn105Ile)
c.289A>T
n.311A>T
Xg.111410328T>CCA414247180DCXc.71A>G (p.Asn24Ser)
c.314A>G (p.Asn105Ser)
c.289A>G
n.311A>G
Xg.111410328T>GCA414247181DCXc.71A>C (p.Asn24Thr)
c.314A>C (p.Asn105Thr)
c.289A>C
n.311A>C
Xg.111410329T>ACA414247183DCXc.70A>T (p.Asn24Tyr)
c.313A>T (p.Asn105Tyr)
c.288A>T
n.310A>T
Xg.111410329T>CCA414247184DCXc.70A>G (p.Asn24Asp)
c.313A>G (p.Asn105Asp)
c.288A>G
n.310A>G
Xg.111410329T>GCA414247185DCXc.70A>C (p.Asn24His)
c.313A>C (p.Asn105His)
c.288A>C
n.310A>C
Xg.111410330C>ACA414247186DCXc.69G>T (p.Met23Ile)
c.312G>T (p.Met104Ile)
c.287G>T
n.309G>T
Xg.111410330C>GCA414247187DCXc.69G>C (p.Met23Ile)
c.312G>C (p.Met104Ile)
c.287G>C
n.309G>C
Xg.111410330C>TCA414247188DCXc.69G>A (p.Met23Ile)
c.312G>A (p.Met104Ile)
c.287G>A
n.309G>A
 COSMIC COSMIC
Xg.111410331A>CCA414247189DCXc.68T>G (p.Met23Arg)
c.311T>G (p.Met104Arg)
c.286T>G
n.308T>G
Xg.111410331A>GCA414247190DCXc.68T>C (p.Met23Thr)
c.311T>C (p.Met104Thr)
c.286T>C
n.308T>C
Xg.111410331A>TCA414247191DCXc.68T>A (p.Met23Lys)
c.311T>A (p.Met104Lys)
c.286T>A
n.308T>A

Number of alleles fetched