Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.135998473_135998493delCA2580101559SLC9A6c.604-9_615del
c.448-9_459del
c.352-9_363del
n.391-9_402del
c.391-9_402del
n.389-9_400del
c.508-9_519del
 ClinVar
Xg.135998477_135998490delCA2694793693SLC9A6c.604-5_612del
c.448-5_456del
c.352-5_360del
n.391-5_399del
c.391-5_399del
n.389-5_397del
c.508-5_516del
 gnomAD v4
Xg.135998490_135998491insATTTTTTTTTTTTCA1137586574SLC9A6c.612_613insATTTTTTTTTTTT (p.Phe205IlefsTer?)
c.456_457insATTTTTTTTTTTT (p.Phe153IlefsTer?)
c.360_361insATTTTTTTTTTTT (p.Phe121IlefsTer?)
n.399_400insATTTTTTTTTTTT
c.399_400insATTTTTTTTTTTT (p.Phe134IlefsTer?)
n.397_398insATTTTTTTTTTTT
c.516_517insATTTTTTTTTTTT (p.Phe173IlefsTer?)
 gnomAD v3 gnomAD v4
Xg.135998493dupCA645618072SLC9A6c.615dup (p.Arg206SerfsTer?)
c.459dup (p.Arg154SerfsTer?)
c.363dup (p.Arg122SerfsTer?)
n.402dup
c.402dup (p.Arg135SerfsTer?)
n.400dup
c.519dup (p.Arg174SerfsTer?)
 gnomAD v4 COSMIC COSMIC
Xg.135998493delCA644623066SLC9A6c.615del (p.Arg206GlufsTer7)
c.459del (p.Arg154GlufsTer7)
c.363del (p.Arg122GlufsTer7)
n.402del
c.402del (p.Arg135GlufsTer7)
n.400del
c.519del (p.Arg174GlufsTer7)
 gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.135998490T>ACA414749898SLC9A6c.612T>A (p.Phe204Leu)
c.456T>A (p.Phe152Leu)
c.360T>A (p.Phe120Leu)
n.399T>A
c.399T>A (p.Phe133Leu)
n.397T>A
c.516T>A (p.Phe172Leu)
Xg.135998490T>CCA518743511SLC9A6c.612T>C (p.Phe204=)
c.456T>C (p.Phe152=)
c.360T>C (p.Phe120=)
n.399T>C
c.399T>C (p.Phe133=)
n.397T>C
c.516T>C (p.Phe172=)
Xg.135998490T>GCA414749899SLC9A6c.612T>G (p.Phe204Leu)
c.456T>G (p.Phe152Leu)
c.360T>G (p.Phe120Leu)
n.399T>G
c.399T>G (p.Phe133Leu)
n.397T>G
c.516T>G (p.Phe172Leu)
Xg.135998491T>ACA414749900SLC9A6c.613T>A (p.Phe205Ile)
c.457T>A (p.Phe153Ile)
c.361T>A (p.Phe121Ile)
n.400T>A
c.400T>A (p.Phe134Ile)
n.398T>A
c.517T>A (p.Phe173Ile)
Xg.135998491T>CCA414749901SLC9A6c.613T>C (p.Phe205Leu)
c.457T>C (p.Phe153Leu)
c.361T>C (p.Phe121Leu)
n.400T>C
c.400T>C (p.Phe134Leu)
n.398T>C
c.517T>C (p.Phe173Leu)
 gnomAD v4
Xg.135998491T>GCA414749902SLC9A6c.613T>G (p.Phe205Val)
c.457T>G (p.Phe153Val)
c.361T>G (p.Phe121Val)
n.400T>G
c.400T>G (p.Phe134Val)
n.398T>G
c.517T>G (p.Phe173Val)
Xg.135998492T>ACA414749903SLC9A6c.614T>A (p.Phe205Tyr)
c.458T>A (p.Phe153Tyr)
c.362T>A (p.Phe121Tyr)
n.401T>A
c.401T>A (p.Phe134Tyr)
n.399T>A
c.518T>A (p.Phe173Tyr)
Xg.135998492T>CCA414749904SLC9A6c.614T>C (p.Phe205Ser)
c.458T>C (p.Phe153Ser)
c.362T>C (p.Phe121Ser)
n.401T>C
c.401T>C (p.Phe134Ser)
n.399T>C
c.518T>C (p.Phe173Ser)
Xg.135998492T>GCA414749905SLC9A6c.614T>G (p.Phe205Cys)
c.458T>G (p.Phe153Cys)
c.362T>G (p.Phe121Cys)
n.401T>G
c.401T>G (p.Phe134Cys)
n.399T>G
c.518T>G (p.Phe173Cys)
Xg.135998493T>ACA414749906SLC9A6c.615T>A (p.Phe205Leu)
c.459T>A (p.Phe153Leu)
c.363T>A (p.Phe121Leu)
n.402T>A
c.402T>A (p.Phe134Leu)
n.400T>A
c.519T>A (p.Phe173Leu)
Xg.135998493T>CCA518743560SLC9A6c.615T>C (p.Phe205=)
c.459T>C (p.Phe153=)
c.363T>C (p.Phe121=)
n.402T>C
c.402T>C (p.Phe134=)
n.400T>C
c.519T>C (p.Phe173=)
 ClinVar
Xg.135998493T>GCA414749907SLC9A6c.615T>G (p.Phe205Leu)
c.459T>G (p.Phe153Leu)
c.363T>G (p.Phe121Leu)
n.402T>G
c.402T>G (p.Phe134Leu)
n.400T>G
c.519T>G (p.Phe173Leu)
Xg.135998494C>ACA518743568SLC9A6c.616C>A (p.Arg206=)
c.460C>A (p.Arg154=)
c.364C>A (p.Arg122=)
n.403C>A
c.403C>A (p.Arg135=)
n.401C>A
c.520C>A (p.Arg174=)
 gnomAD v4
Xg.135998494C>GCA414749908SLC9A6c.616C>G (p.Arg206Gly)
c.460C>G (p.Arg154Gly)
c.364C>G (p.Arg122Gly)
n.403C>G
c.403C>G (p.Arg135Gly)
n.401C>G
c.520C>G (p.Arg174Gly)
 dbSNP gnomAD v4
Xg.135998494C>TCA414749909SLC9A6c.616C>T (p.Arg206Ter)
c.460C>T (p.Arg154Ter)
c.364C>T (p.Arg122Ter)
n.403C>T
c.403C>T (p.Arg135Ter)
n.401C>T
c.520C>T (p.Arg174Ter)
 gnomAD v3 gnomAD v4
Xg.135998495G>ACA10524677SLC9A6c.617G>A (p.Arg206Gln)
c.461G>A (p.Arg154Gln)
c.365G>A (p.Arg122Gln)
n.404G>A
c.404G>A (p.Arg135Gln)
n.402G>A
c.521G>A (p.Arg174Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.135998495G>CCA414749911SLC9A6c.617G>C (p.Arg206Pro)
c.461G>C (p.Arg154Pro)
c.365G>C (p.Arg122Pro)
n.404G>C
c.404G>C (p.Arg135Pro)
n.402G>C
c.521G>C (p.Arg174Pro)
 gnomAD v4
Xg.135998495G=CA2460189931SLC9A6c.617G= (p.Arg206=)
c.461G= (p.Arg154=)
c.365G= (p.Arg122=)
n.404G=
c.404G= (p.Arg135=)
n.402G=
c.521G= (p.Arg174=)
Xg.135998495G>TCA414749910SLC9A6c.617G>T (p.Arg206Leu)
c.461G>T (p.Arg154Leu)
c.365G>T (p.Arg122Leu)
n.404G>T
c.404G>T (p.Arg135Leu)
n.402G>T
c.521G>T (p.Arg174Leu)
 gnomAD v3 gnomAD v4
Xg.135998496A>CCA518743595SLC9A6c.618A>C (p.Arg206=)
c.462A>C (p.Arg154=)
c.366A>C (p.Arg122=)
n.405A>C
c.405A>C (p.Arg135=)
n.403A>C
c.522A>C (p.Arg174=)
 gnomAD v4
Xg.135998496A>GCA518743604SLC9A6c.618A>G (p.Arg206=)
c.462A>G (p.Arg154=)
c.366A>G (p.Arg122=)
n.405A>G
c.405A>G (p.Arg135=)
n.403A>G
c.522A>G (p.Arg174=)
 gnomAD v4
Xg.135998496A>TCA518743600SLC9A6c.618A>T (p.Arg206=)
c.462A>T (p.Arg154=)
c.366A>T (p.Arg122=)
n.405A>T
c.405A>T (p.Arg135=)
n.403A>T
c.522A>T (p.Arg174=)
Xg.135998497A>CCA414749912SLC9A6c.619A>C (p.Asn207His)
c.463A>C (p.Asn155His)
c.367A>C (p.Asn123His)
n.406A>C
c.406A>C (p.Asn136His)
n.404A>C
c.523A>C (p.Asn175His)
Xg.135998497A>GCA414749914SLC9A6c.619A>G (p.Asn207Asp)
c.463A>G (p.Asn155Asp)
c.367A>G (p.Asn123Asp)
n.406A>G
c.406A>G (p.Asn136Asp)
n.404A>G
c.523A>G (p.Asn175Asp)
 gnomAD v4
Xg.135998497A>TCA414749913SLC9A6c.619A>T (p.Asn207Tyr)
c.463A>T (p.Asn155Tyr)
c.367A>T (p.Asn123Tyr)
n.406A>T
c.406A>T (p.Asn136Tyr)
n.404A>T
c.523A>T (p.Asn175Tyr)
Xg.135998498A>CCA414749915SLC9A6c.620A>C (p.Asn207Thr)
c.464A>C (p.Asn155Thr)
c.368A>C (p.Asn123Thr)
n.407A>C
c.407A>C (p.Asn136Thr)
n.405A>C
c.524A>C (p.Asn175Thr)
Xg.135998498A>GCA414749916SLC9A6c.620A>G (p.Asn207Ser)
c.464A>G (p.Asn155Ser)
c.368A>G (p.Asn123Ser)
n.407A>G
c.407A>G (p.Asn136Ser)
n.405A>G
c.524A>G (p.Asn175Ser)
Xg.135998498A>TCA414749917SLC9A6c.620A>T (p.Asn207Ile)
c.464A>T (p.Asn155Ile)
c.368A>T (p.Asn123Ile)
n.407A>T
c.407A>T (p.Asn136Ile)
n.405A>T
c.524A>T (p.Asn175Ile)
Xg.135998498_135998499delinsATCA2460189932SLC9A6c.620_621delinsAT (p.Asn207=)
c.464_465delinsAT (p.Asn155=)
c.368_369delinsAT (p.Asn123=)
n.407_408delinsAT
c.407_408delinsAT (p.Asn136=)
n.405_406delinsAT
c.524_525delinsAT (p.Asn175=)
Xg.135998499delCA1139667810SLC9A6c.621del (p.Ser210LeufsTer3)
c.465del (p.Ser158LeufsTer3)
c.369del (p.Ser126LeufsTer3)
n.408del
c.408del (p.Ser139LeufsTer3)
n.406del
c.525del (p.Ser178LeufsTer3)
 ClinVar dbSNP
Xg.135998499T>ACA414749918SLC9A6c.621T>A (p.Asn207Lys)
c.465T>A (p.Asn155Lys)
c.369T>A (p.Asn123Lys)
n.408T>A
c.408T>A (p.Asn136Lys)
n.406T>A
c.525T>A (p.Asn175Lys)
Xg.135998499T>CCA518743635SLC9A6c.621T>C (p.Asn207=)
c.465T>C (p.Asn155=)
c.369T>C (p.Asn123=)
n.408T>C
c.408T>C (p.Asn136=)
n.406T>C
c.525T>C (p.Asn175=)
 gnomAD v4
Xg.135998499T>GCA414749919SLC9A6c.621T>G (p.Asn207Lys)
c.465T>G (p.Asn155Lys)
c.369T>G (p.Asn123Lys)
n.408T>G
c.408T>G (p.Asn136Lys)
n.406T>G
c.525T>G (p.Asn175Lys)
Xg.135998500C>ACA414749920SLC9A6c.622C>A (p.Leu208Ile)
c.466C>A (p.Leu156Ile)
c.370C>A (p.Leu124Ile)
n.409C>A
c.409C>A (p.Leu137Ile)
n.407C>A
c.526C>A (p.Leu176Ile)
 gnomAD v4
Xg.135998500C>GCA414749921SLC9A6c.622C>G (p.Leu208Val)
c.466C>G (p.Leu156Val)
c.370C>G (p.Leu124Val)
n.409C>G
c.409C>G (p.Leu137Val)
n.407C>G
c.526C>G (p.Leu176Val)
 dbSNP
Xg.135998500C>TCA414749922SLC9A6c.622C>T (p.Leu208Phe)
c.466C>T (p.Leu156Phe)
c.370C>T (p.Leu124Phe)
n.409C>T
c.409C>T (p.Leu137Phe)
n.407C>T
c.526C>T (p.Leu176Phe)
 gnomAD v3 gnomAD v4
Xg.135998501T>ACA414749923SLC9A6c.623T>A (p.Leu208His)
c.467T>A (p.Leu156His)
c.371T>A (p.Leu124His)
n.410T>A
c.410T>A (p.Leu137His)
n.408T>A
c.527T>A (p.Leu176His)
Xg.135998501T>CCA414749924SLC9A6c.623T>C (p.Leu208Pro)
c.467T>C (p.Leu156Pro)
c.371T>C (p.Leu124Pro)
n.410T>C
c.410T>C (p.Leu137Pro)
n.408T>C
c.527T>C (p.Leu176Pro)
Xg.135998501T>GCA414749925SLC9A6c.623T>G (p.Leu208Arg)
c.467T>G (p.Leu156Arg)
c.371T>G (p.Leu124Arg)
n.410T>G
c.410T>G (p.Leu137Arg)
n.408T>G
c.527T>G (p.Leu176Arg)
Xg.135998501_135998502insAAAAAGGACA2503392470SLC9A6c.623_624insAAAAAGGA (p.Gly209LysfsTer7)
c.467_468insAAAAAGGA (p.Gly157LysfsTer7)
c.371_372insAAAAAGGA (p.Gly125LysfsTer7)
n.410_411insAAAAAGGA
c.410_411insAAAAAGGA (p.Gly138LysfsTer7)
n.408_409insAAAAAGGA
c.527_528insAAAAAGGA (p.Gly177LysfsTer7)
Xg.135998502T>ACA518743682SLC9A6c.624T>A (p.Leu208=)
c.468T>A (p.Leu156=)
c.372T>A (p.Leu124=)
n.411T>A
c.411T>A (p.Leu137=)
n.409T>A
c.528T>A (p.Leu176=)
Xg.135998502T>CCA518743684SLC9A6c.624T>C (p.Leu208=)
c.468T>C (p.Leu156=)
c.372T>C (p.Leu124=)
n.411T>C
c.411T>C (p.Leu137=)
n.409T>C
c.528T>C (p.Leu176=)
Xg.135998502T>GCA518743689SLC9A6c.624T>G (p.Leu208=)
c.468T>G (p.Leu156=)
c.372T>G (p.Leu124=)
n.411T>G
c.411T>G (p.Leu137=)
n.409T>G
c.528T>G (p.Leu176=)
Xg.135998502_135998503insAAGGAGAGGAGAAAGGACA2571080896SLC9A6c.624_625insAAGGAGAGGAGAAAGGA (p.Gly209LysfsTer10)
c.468_469insAAGGAGAGGAGAAAGGA (p.Gly157LysfsTer10)
c.372_373insAAGGAGAGGAGAAAGGA (p.Gly125LysfsTer10)
n.411_412insAAGGAGAGGAGAAAGGA
c.411_412insAAGGAGAGGAGAAAGGA (p.Gly138LysfsTer10)
n.409_410insAAGGAGAGGAGAAAGGA
c.528_529insAAGGAGAGGAGAAAGGA (p.Gly177LysfsTer10)
Xg.135998503G>ACA414749928SLC9A6c.625G>A (p.Gly209Arg)
c.469G>A (p.Gly157Arg)
c.373G>A (p.Gly125Arg)
n.412G>A
c.412G>A (p.Gly138Arg)
n.410G>A
c.529G>A (p.Gly177Arg)
 gnomAD v4
Xg.135998503G>CCA414749926SLC9A6c.625G>C (p.Gly209Arg)
c.469G>C (p.Gly157Arg)
c.373G>C (p.Gly125Arg)
n.412G>C
c.412G>C (p.Gly138Arg)
n.410G>C
c.529G>C (p.Gly177Arg)
 gnomAD v4
Xg.135998503G>TCA414749927SLC9A6c.625G>T (p.Gly209Trp)
c.469G>T (p.Gly157Trp)
c.373G>T (p.Gly125Trp)
n.412G>T
c.412G>T (p.Gly138Trp)
n.410G>T
c.529G>T (p.Gly177Trp)
 gnomAD v3 gnomAD v4
Xg.135998505delCA2694793705SLC9A6c.627del (p.Ser210LeufsTer3)
c.471del (p.Ser158LeufsTer3)
c.375del (p.Ser126LeufsTer3)
n.414del
c.414del (p.Ser139LeufsTer3)
n.412del
c.531del (p.Ser178LeufsTer3)
 gnomAD v4
Xg.135998504G>ACA414749929SLC9A6c.626G>A (p.Gly209Glu)
c.470G>A (p.Gly157Glu)
c.374G>A (p.Gly125Glu)
n.413G>A
c.413G>A (p.Gly138Glu)
n.411G>A
c.530G>A (p.Gly177Glu)
 gnomAD v4
Xg.135998504G>CCA414749930SLC9A6c.626G>C (p.Gly209Ala)
c.470G>C (p.Gly157Ala)
c.374G>C (p.Gly125Ala)
n.413G>C
c.413G>C (p.Gly138Ala)
n.411G>C
c.530G>C (p.Gly177Ala)
Xg.135998504G>TCA414749931SLC9A6c.626G>T (p.Gly209Val)
c.470G>T (p.Gly157Val)
c.374G>T (p.Gly125Val)
n.413G>T
c.413G>T (p.Gly138Val)
n.411G>T
c.530G>T (p.Gly177Val)
 gnomAD v3 gnomAD v4
Xg.135998505G>ACA518743713SLC9A6c.627G>A (p.Gly209=)
c.471G>A (p.Gly157=)
c.375G>A (p.Gly125=)
n.414G>A
c.414G>A (p.Gly138=)
n.412G>A
c.531G>A (p.Gly177=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.135998505G>CCA518743714SLC9A6c.627G>C (p.Gly209=)
c.471G>C (p.Gly157=)
c.375G>C (p.Gly125=)
n.414G>C
c.414G>C (p.Gly138=)
n.412G>C
c.531G>C (p.Gly177=)
 dbSNP gnomAD v2 gnomAD v4
Xg.135998505G=CA2460189933SLC9A6c.627G= (p.Gly209=)
c.471G= (p.Gly157=)
c.375G= (p.Gly125=)
n.414G=
c.414G= (p.Gly138=)
n.412G=
c.531G= (p.Gly177=)
Xg.135998505G>TCA518743715SLC9A6c.627G>T (p.Gly209=)
c.471G>T (p.Gly157=)
c.375G>T (p.Gly125=)
n.414G>T
c.414G>T (p.Gly138=)
n.412G>T
c.531G>T (p.Gly177=)
 ClinVar dbSNP gnomAD v4
Xg.135998506T>ACA414749932SLC9A6c.628T>A (p.Ser210Thr)
c.472T>A (p.Ser158Thr)
c.376T>A (p.Ser126Thr)
n.415T>A
c.415T>A (p.Ser139Thr)
n.413T>A
c.532T>A (p.Ser178Thr)
Xg.135998506T>CCA414749933SLC9A6c.628T>C (p.Ser210Pro)
c.472T>C (p.Ser158Pro)
c.376T>C (p.Ser126Pro)
n.415T>C
c.415T>C (p.Ser139Pro)
n.413T>C
c.532T>C (p.Ser178Pro)
 gnomAD v4
Xg.135998506T>GCA414749934SLC9A6c.628T>G (p.Ser210Ala)
c.472T>G (p.Ser158Ala)
c.376T>G (p.Ser126Ala)
n.415T>G
c.415T>G (p.Ser139Ala)
n.413T>G
c.532T>G (p.Ser178Ala)
Xg.135998507C>ACA414749935SLC9A6c.629C>A (p.Ser210Tyr)
c.473C>A (p.Ser158Tyr)
c.377C>A (p.Ser126Tyr)
n.416C>A
c.416C>A (p.Ser139Tyr)
n.414C>A
c.533C>A (p.Ser178Tyr)
 dbSNP gnomAD v4
Xg.135998507C>GCA414749936SLC9A6c.629C>G (p.Ser210Cys)
c.473C>G (p.Ser158Cys)
c.377C>G (p.Ser126Cys)
n.416C>G
c.416C>G (p.Ser139Cys)
n.414C>G
c.533C>G (p.Ser178Cys)
Xg.135998507C>TCA414749937SLC9A6c.629C>T (p.Ser210Phe)
c.473C>T (p.Ser158Phe)
c.377C>T (p.Ser126Phe)
n.416C>T
c.416C>T (p.Ser139Phe)
n.414C>T
c.533C>T (p.Ser178Phe)
 gnomAD v3 gnomAD v4
Xg.135998508T>ACA518743738SLC9A6c.630T>A (p.Ser210=)
c.474T>A (p.Ser158=)
c.378T>A (p.Ser126=)
n.417T>A
c.417T>A (p.Ser139=)
n.415T>A
c.534T>A (p.Ser178=)
Xg.135998508T>CCA293611SLC9A6c.630T>C (p.Ser210=)
c.474T>C (p.Ser158=)
c.378T>C (p.Ser126=)
n.417T>C
c.417T>C (p.Ser139=)
n.415T>C
c.534T>C (p.Ser178=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135998508T>GCA518743744SLC9A6c.630T>G (p.Ser210=)
c.474T>G (p.Ser158=)
c.378T>G (p.Ser126=)
n.417T>G
c.417T>G (p.Ser139=)
n.415T>G
c.534T>G (p.Ser178=)
Xg.135998508T=CA2460189934SLC9A6c.630T= (p.Ser210=)
c.474T= (p.Ser158=)
c.378T= (p.Ser126=)
n.417T=
c.417T= (p.Ser139=)
n.415T=
c.534T= (p.Ser178=)
Xg.135998509A=CA2460189935SLC9A6c.631A= (p.Ile211=)
c.475A= (p.Ile159=)
c.379A= (p.Ile127=)
n.418A=
c.418A= (p.Ile140=)
n.416A=
c.535A= (p.Ile179=)
Xg.135998509A>CCA414749939SLC9A6c.631A>C (p.Ile211Leu)
c.475A>C (p.Ile159Leu)
c.379A>C (p.Ile127Leu)
n.418A>C
c.418A>C (p.Ile140Leu)
n.416A>C
c.535A>C (p.Ile179Leu)
Xg.135998509A>GCA414749940SLC9A6c.631A>G (p.Ile211Val)
c.475A>G (p.Ile159Val)
c.379A>G (p.Ile127Val)
n.418A>G
c.418A>G (p.Ile140Val)
n.416A>G
c.535A>G (p.Ile179Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.135998509A>TCA414749938SLC9A6c.631A>T (p.Ile211Phe)
c.475A>T (p.Ile159Phe)
c.379A>T (p.Ile127Phe)
n.418A>T
c.418A>T (p.Ile140Phe)
n.416A>T
c.535A>T (p.Ile179Phe)
 gnomAD v3 gnomAD v4
Xg.135998510T>ACA414749941SLC9A6c.632T>A (p.Ile211Asn)
c.476T>A (p.Ile159Asn)
c.380T>A (p.Ile127Asn)
n.419T>A
c.419T>A (p.Ile140Asn)
n.417T>A
c.536T>A (p.Ile179Asn)
Xg.135998510T>CCA414749942SLC9A6c.632T>C (p.Ile211Thr)
c.476T>C (p.Ile159Thr)
c.380T>C (p.Ile127Thr)
n.419T>C
c.419T>C (p.Ile140Thr)
n.417T>C
c.536T>C (p.Ile179Thr)
Xg.135998510T>GCA414749943SLC9A6c.632T>G (p.Ile211Ser)
c.476T>G (p.Ile159Ser)
c.380T>G (p.Ile127Ser)
n.419T>G
c.419T>G (p.Ile140Ser)
n.417T>G
c.536T>G (p.Ile179Ser)
 dbSNP
Xg.135998510T=CA2460189936SLC9A6c.632T= (p.Ile211=)
c.476T= (p.Ile159=)
c.380T= (p.Ile127=)
n.419T=
c.419T= (p.Ile140=)
n.417T=
c.536T= (p.Ile179=)
Xg.135998511C>ACA518743762SLC9A6c.633C>A (p.Ile211=)
c.477C>A (p.Ile159=)
c.381C>A (p.Ile127=)
n.420C>A
c.420C>A (p.Ile140=)
n.418C>A
c.537C>A (p.Ile179=)
 gnomAD v4
Xg.135998511C>GCA414749944SLC9A6c.633C>G (p.Ile211Met)
c.477C>G (p.Ile159Met)
c.381C>G (p.Ile127Met)
n.420C>G
c.420C>G (p.Ile140Met)
n.418C>G
c.537C>G (p.Ile179Met)
Xg.135998511C>TCA518743772SLC9A6c.633C>T (p.Ile211=)
c.477C>T (p.Ile159=)
c.381C>T (p.Ile127=)
n.420C>T
c.420C>T (p.Ile140=)
n.418C>T
c.537C>T (p.Ile179=)
Xg.135998512C>ACA414749945SLC9A6c.634C>A (p.Leu212Ile)
c.478C>A (p.Leu160Ile)
c.382C>A (p.Leu128Ile)
n.421C>A
c.421C>A (p.Leu141Ile)
n.419C>A
c.538C>A (p.Leu180Ile)
 gnomAD v4
Xg.135998512C=CA2460189937SLC9A6c.634C= (p.Leu212=)
c.478C= (p.Leu160=)
c.382C= (p.Leu128=)
n.421C=
c.421C= (p.Leu141=)
n.419C=
c.538C= (p.Leu180=)
Xg.135998512C>GCA414749946SLC9A6c.634C>G (p.Leu212Val)
c.478C>G (p.Leu160Val)
c.382C>G (p.Leu128Val)
n.421C>G
c.421C>G (p.Leu141Val)
n.419C>G
c.538C>G (p.Leu180Val)
 dbSNP gnomAD v3 gnomAD v4
Xg.135998512C>TCA518743783SLC9A6c.634C>T (p.Leu212=)
c.478C>T (p.Leu160=)
c.382C>T (p.Leu128=)
n.421C>T
c.421C>T (p.Leu141=)
n.419C>T
c.538C>T (p.Leu180=)
Xg.135998513T>ACA414749947SLC9A6c.635T>A (p.Leu212Gln)
c.479T>A (p.Leu160Gln)
c.383T>A (p.Leu128Gln)
n.422T>A
c.422T>A (p.Leu141Gln)
n.420T>A
c.539T>A (p.Leu180Gln)
Xg.135998513T>CCA414749948SLC9A6c.635T>C (p.Leu212Pro)
c.479T>C (p.Leu160Pro)
c.383T>C (p.Leu128Pro)
n.422T>C
c.422T>C (p.Leu141Pro)
n.420T>C
c.539T>C (p.Leu180Pro)
Xg.135998513T>GCA414749949SLC9A6c.635T>G (p.Leu212Arg)
c.479T>G (p.Leu160Arg)
c.383T>G (p.Leu128Arg)
n.422T>G
c.422T>G (p.Leu141Arg)
n.420T>G
c.539T>G (p.Leu180Arg)
Xg.135998514A=CA2460189938SLC9A6c.636A= (p.Leu212=)
c.480A= (p.Leu160=)
c.384A= (p.Leu128=)
n.423A=
c.423A= (p.Leu141=)
n.421A=
c.540A= (p.Leu180=)
Xg.135998514A>CCA518743802SLC9A6c.636A>C (p.Leu212=)
c.480A>C (p.Leu160=)
c.384A>C (p.Leu128=)
n.423A>C
c.423A>C (p.Leu141=)
n.421A>C
c.540A>C (p.Leu180=)
Xg.135998514A>GCA518743805SLC9A6c.636A>G (p.Leu212=)
c.480A>G (p.Leu160=)
c.384A>G (p.Leu128=)
n.423A>G
c.423A>G (p.Leu141=)
n.421A>G
c.540A>G (p.Leu180=)
 dbSNP gnomAD v2 gnomAD v4
Xg.135998514A>TCA518743809SLC9A6c.636A>T (p.Leu212=)
c.480A>T (p.Leu160=)
c.384A>T (p.Leu128=)
n.423A>T
c.423A>T (p.Leu141=)
n.421A>T
c.540A>T (p.Leu180=)
Xg.135998515G>ACA414749950SLC9A6c.637G>A (p.Ala213Thr)
c.481G>A (p.Ala161Thr)
c.385G>A (p.Ala129Thr)
n.424G>A
c.424G>A (p.Ala142Thr)
n.422G>A
c.541G>A (p.Ala181Thr)
Xg.135998515G>CCA414749951SLC9A6c.637G>C (p.Ala213Pro)
c.481G>C (p.Ala161Pro)
c.385G>C (p.Ala129Pro)
n.424G>C
c.424G>C (p.Ala142Pro)
n.422G>C
c.541G>C (p.Ala181Pro)
Xg.135998515G>TCA414749952SLC9A6c.637G>T (p.Ala213Ser)
c.481G>T (p.Ala161Ser)
c.385G>T (p.Ala129Ser)
n.424G>T
c.424G>T (p.Ala142Ser)
n.422G>T
c.541G>T (p.Ala181Ser)
 ClinVar gnomAD v3 gnomAD v4
Xg.135998516C>ACA414749954SLC9A6c.638C>A (p.Ala213Glu)
c.482C>A (p.Ala161Glu)
c.386C>A (p.Ala129Glu)
n.425C>A
c.425C>A (p.Ala142Glu)
n.423C>A
c.542C>A (p.Ala181Glu)
Xg.135998516C>GCA414749955SLC9A6c.638C>G (p.Ala213Gly)
c.482C>G (p.Ala161Gly)
c.386C>G (p.Ala129Gly)
n.425C>G
c.425C>G (p.Ala142Gly)
n.423C>G
c.542C>G (p.Ala181Gly)
Xg.135998516C>TCA414749953SLC9A6c.638C>T (p.Ala213Val)
c.482C>T (p.Ala161Val)
c.386C>T (p.Ala129Val)
n.425C>T
c.425C>T (p.Ala142Val)
n.423C>T
c.542C>T (p.Ala181Val)
 gnomAD v4
Xg.135998517A=CA2460189939SLC9A6c.639A= (p.Ala213=)
c.483A= (p.Ala161=)
c.387A= (p.Ala129=)
n.426A=
c.426A= (p.Ala142=)
n.424A=
c.543A= (p.Ala181=)
Xg.135998517A>CCA518743839SLC9A6c.639A>C (p.Ala213=)
c.483A>C (p.Ala161=)
c.387A>C (p.Ala129=)
n.426A>C
c.426A>C (p.Ala142=)
n.424A>C
c.543A>C (p.Ala181=)
Xg.135998517A>GCA10524678SLC9A6c.639A>G (p.Ala213=)
c.483A>G (p.Ala161=)
c.387A>G (p.Ala129=)
n.426A>G
c.426A>G (p.Ala142=)
n.424A>G
c.543A>G (p.Ala181=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135998517A>TCA518743847SLC9A6c.639A>T (p.Ala213=)
c.483A>T (p.Ala161=)
c.387A>T (p.Ala129=)
n.426A>T
c.426A>T (p.Ala142=)
n.424A>T
c.543A>T (p.Ala181=)
Xg.135998518T>ACA414749956SLC9A6c.640T>A (p.Tyr214Asn)
c.484T>A (p.Tyr162Asn)
c.388T>A (p.Tyr130Asn)
n.427T>A
c.427T>A (p.Tyr143Asn)
n.425T>A
c.544T>A (p.Tyr182Asn)
Xg.135998518T>CCA414749957SLC9A6c.640T>C (p.Tyr214His)
c.484T>C (p.Tyr162His)
c.388T>C (p.Tyr130His)
n.427T>C
c.427T>C (p.Tyr143His)
n.425T>C
c.544T>C (p.Tyr182His)
Xg.135998518T>GCA414749958SLC9A6c.640T>G (p.Tyr214Asp)
c.484T>G (p.Tyr162Asp)
c.388T>G (p.Tyr130Asp)
n.427T>G
c.427T>G (p.Tyr143Asp)
n.425T>G
c.544T>G (p.Tyr182Asp)
Xg.135998519A>CCA414749961SLC9A6c.641A>C (p.Tyr214Ser)
c.485A>C (p.Tyr162Ser)
c.389A>C (p.Tyr130Ser)
n.428A>C
c.428A>C (p.Tyr143Ser)
n.426A>C
c.545A>C (p.Tyr182Ser)
Xg.135998519A>GCA414749960SLC9A6c.641A>G (p.Tyr214Cys)
c.485A>G (p.Tyr162Cys)
c.389A>G (p.Tyr130Cys)
n.428A>G
c.428A>G (p.Tyr143Cys)
n.426A>G
c.545A>G (p.Tyr182Cys)
Xg.135998519A>TCA414749959SLC9A6c.641A>T (p.Tyr214Phe)
c.485A>T (p.Tyr162Phe)
c.389A>T (p.Tyr130Phe)
n.428A>T
c.428A>T (p.Tyr143Phe)
n.426A>T
c.545A>T (p.Tyr182Phe)
Xg.135998520C>ACA414749962SLC9A6c.642C>A (p.Tyr214Ter)
c.486C>A (p.Tyr162Ter)
c.390C>A (p.Tyr130Ter)
n.429C>A
c.429C>A (p.Tyr143Ter)
n.427C>A
c.546C>A (p.Tyr182Ter)
Xg.135998520C=CA2460189940SLC9A6c.642C= (p.Tyr214=)
c.486C= (p.Tyr162=)
c.390C= (p.Tyr130=)
n.429C=
c.429C= (p.Tyr143=)
n.427C=
c.546C= (p.Tyr182=)
Xg.135998520C>GCA414749963SLC9A6c.642C>G (p.Tyr214Ter)
c.486C>G (p.Tyr162Ter)
c.390C>G (p.Tyr130Ter)
n.429C>G
c.429C>G (p.Tyr143Ter)
n.427C>G
c.546C>G (p.Tyr182Ter)
Xg.135998520C>TCA10524679SLC9A6c.642C>T (p.Tyr214=)
c.486C>T (p.Tyr162=)
c.390C>T (p.Tyr130=)
n.429C>T
c.429C>T (p.Tyr143=)
n.427C>T
c.546C>T (p.Tyr182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.135998521G>ACA318518SLC9A6c.643G>A (p.Ala215Thr)
c.487G>A (p.Ala163Thr)
c.391G>A (p.Ala131Thr)
n.430G>A
c.430G>A (p.Ala144Thr)
n.428G>A
c.547G>A (p.Ala183Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.135998521G>CCA414749964SLC9A6c.643G>C (p.Ala215Pro)
c.487G>C (p.Ala163Pro)
c.391G>C (p.Ala131Pro)
n.430G>C
c.430G>C (p.Ala144Pro)
n.428G>C
c.547G>C (p.Ala183Pro)
Xg.135998521G=CA2460189941SLC9A6c.643G= (p.Ala215=)
c.487G= (p.Ala163=)
c.391G= (p.Ala131=)
n.430G=
c.430G= (p.Ala144=)
n.428G=
c.547G= (p.Ala183=)
Xg.135998521G>TCA414749965SLC9A6c.643G>T (p.Ala215Ser)
c.487G>T (p.Ala163Ser)
c.391G>T (p.Ala131Ser)
n.430G>T
c.430G>T (p.Ala144Ser)
n.428G>T
c.547G>T (p.Ala183Ser)
Xg.135998522C>ACA414749968SLC9A6c.644C>A (p.Ala215Asp)
c.488C>A (p.Ala163Asp)
c.392C>A (p.Ala131Asp)
n.431C>A
c.431C>A (p.Ala144Asp)
n.429C>A
c.548C>A (p.Ala183Asp)
 gnomAD v4
Xg.135998522C>GCA414749967SLC9A6c.644C>G (p.Ala215Gly)
c.488C>G (p.Ala163Gly)
c.392C>G (p.Ala131Gly)
n.431C>G
c.431C>G (p.Ala144Gly)
n.429C>G
c.548C>G (p.Ala183Gly)
Xg.135998522C>TCA414749966SLC9A6c.644C>T (p.Ala215Val)
c.488C>T (p.Ala163Val)
c.392C>T (p.Ala131Val)
n.431C>T
c.431C>T (p.Ala144Val)
n.429C>T
c.548C>T (p.Ala183Val)
Xg.135998523T>ACA518743913SLC9A6c.645T>A (p.Ala215=)
c.489T>A (p.Ala163=)
c.393T>A (p.Ala131=)
n.432T>A
c.432T>A (p.Ala144=)
n.430T>A
c.549T>A (p.Ala183=)
 gnomAD v4
Xg.135998523T>CCA518743918SLC9A6c.645T>C (p.Ala215=)
c.489T>C (p.Ala163=)
c.393T>C (p.Ala131=)
n.432T>C
c.432T>C (p.Ala144=)
n.430T>C
c.549T>C (p.Ala183=)
Xg.135998523T>GCA518743923SLC9A6c.645T>G (p.Ala215=)
c.489T>G (p.Ala163=)
c.393T>G (p.Ala131=)
n.432T>G
c.432T>G (p.Ala144=)
n.430T>G
c.549T>G (p.Ala183=)
Xg.135998524T>ACA414749969SLC9A6c.646T>A (p.Phe216Ile)
c.490T>A (p.Phe164Ile)
c.394T>A (p.Phe132Ile)
n.433T>A
c.433T>A (p.Phe145Ile)
n.431T>A
c.550T>A (p.Phe184Ile)
Xg.135998524T>CCA414749971SLC9A6c.646T>C (p.Phe216Leu)
c.490T>C (p.Phe164Leu)
c.394T>C (p.Phe132Leu)
n.433T>C
c.433T>C (p.Phe145Leu)
n.431T>C
c.550T>C (p.Phe184Leu)
Xg.135998524T>GCA414749970SLC9A6c.646T>G (p.Phe216Val)
c.490T>G (p.Phe164Val)
c.394T>G (p.Phe132Val)
n.433T>G
c.433T>G (p.Phe145Val)
n.431T>G
c.550T>G (p.Phe184Val)
Xg.135998525T>ACA414749972SLC9A6c.647T>A (p.Phe216Tyr)
c.491T>A (p.Phe164Tyr)
c.395T>A (p.Phe132Tyr)
n.434T>A
c.434T>A (p.Phe145Tyr)
n.432T>A
c.551T>A (p.Phe184Tyr)
Xg.135998525T>CCA414749974SLC9A6c.647T>C (p.Phe216Ser)
c.491T>C (p.Phe164Ser)
c.395T>C (p.Phe132Ser)
n.434T>C
c.434T>C (p.Phe145Ser)
n.432T>C
c.551T>C (p.Phe184Ser)
Xg.135998525T>GCA414749976SLC9A6c.647T>G (p.Phe216Cys)
c.491T>G (p.Phe164Cys)
c.395T>G (p.Phe132Cys)
n.434T>G
c.434T>G (p.Phe145Cys)
n.432T>G
c.551T>G (p.Phe184Cys)
Xg.135998526T>ACA414749977SLC9A6c.648T>A (p.Phe216Leu)
c.492T>A (p.Phe164Leu)
c.396T>A (p.Phe132Leu)
n.435T>A
c.435T>A (p.Phe145Leu)
n.433T>A
c.552T>A (p.Phe184Leu)
Xg.135998526T>CCA518743957SLC9A6c.648T>C (p.Phe216=)
c.492T>C (p.Phe164=)
c.396T>C (p.Phe132=)
n.435T>C
c.435T>C (p.Phe145=)
n.433T>C
c.552T>C (p.Phe184=)
 ClinVar gnomAD v4
Xg.135998526T>GCA414749978SLC9A6c.648T>G (p.Phe216Leu)
c.492T>G (p.Phe164Leu)
c.396T>G (p.Phe132Leu)
n.435T>G
c.435T>G (p.Phe145Leu)
n.433T>G
c.552T>G (p.Phe184Leu)
Xg.135998527C>ACA414749979SLC9A6c.649C>A (p.Leu217Ile)
c.493C>A (p.Leu165Ile)
c.397C>A (p.Leu133Ile)
n.436C>A
c.436C>A (p.Leu146Ile)
n.434C>A
c.553C>A (p.Leu185Ile)
Xg.135998527C=CA2460189942SLC9A6c.649C= (p.Leu217=)
c.493C= (p.Leu165=)
c.397C= (p.Leu133=)
n.436C=
c.436C= (p.Leu146=)
n.434C=
c.553C= (p.Leu185=)
Xg.135998527C>GCA414749980SLC9A6c.649C>G (p.Leu217Val)
c.493C>G (p.Leu165Val)
c.397C>G (p.Leu133Val)
n.436C>G
c.436C>G (p.Leu146Val)
n.434C>G
c.553C>G (p.Leu185Val)
Xg.135998527C>TCA10524680SLC9A6c.649C>T (p.Leu217Phe)
c.493C>T (p.Leu165Phe)
c.397C>T (p.Leu133Phe)
n.436C>T
c.436C>T (p.Leu146Phe)
n.434C>T
c.553C>T (p.Leu185Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.135998528T>ACA414749981SLC9A6c.650T>A (p.Leu217His)
c.494T>A (p.Leu165His)
c.398T>A (p.Leu133His)
n.437T>A
c.437T>A (p.Leu146His)
n.435T>A
c.554T>A (p.Leu185His)
Xg.135998528T>CCA414749982SLC9A6c.650T>C (p.Leu217Pro)
c.494T>C (p.Leu165Pro)
c.398T>C (p.Leu133Pro)
n.437T>C
c.437T>C (p.Leu146Pro)
n.435T>C
c.554T>C (p.Leu185Pro)
Xg.135998528T>GCA414749983SLC9A6c.650T>G (p.Leu217Arg)
c.494T>G (p.Leu165Arg)
c.398T>G (p.Leu133Arg)
n.437T>G
c.437T>G (p.Leu146Arg)
n.435T>G
c.554T>G (p.Leu185Arg)
Xg.135998529delCA2579709677SLC9A6c.651del (p.Gly218GlufsTer12)
c.495del (p.Gly166GlufsTer12)
c.399del (p.Gly134GlufsTer12)
n.438del
c.438del (p.Gly147GlufsTer12)
n.436del
c.555del (p.Gly186GlufsTer12)
Xg.135998529T>ACA518743991SLC9A6c.651T>A (p.Leu217=)
c.495T>A (p.Leu165=)
c.399T>A (p.Leu133=)
n.438T>A
c.438T>A (p.Leu146=)
n.436T>A
c.555T>A (p.Leu185=)
Xg.135998529T>CCA518743993SLC9A6c.651T>C (p.Leu217=)
c.495T>C (p.Leu165=)
c.399T>C (p.Leu133=)
n.438T>C
c.438T>C (p.Leu146=)
n.436T>C
c.555T>C (p.Leu185=)
 gnomAD v4
Xg.135998529T>GCA518743996SLC9A6c.651T>G (p.Leu217=)
c.495T>G (p.Leu165=)
c.399T>G (p.Leu133=)
n.438T>G
c.438T>G (p.Leu146=)
n.436T>G
c.555T>G (p.Leu185=)
Xg.135998530G>ACA414749986SLC9A6c.652G>A (p.Gly218Arg)
c.496G>A (p.Gly166Arg)
c.400G>A (p.Gly134Arg)
n.439G>A
c.439G>A (p.Gly147Arg)
n.437G>A
c.556G>A (p.Gly186Arg)
Xg.135998530G>CCA414749985SLC9A6c.652G>C (p.Gly218Arg)
c.496G>C (p.Gly166Arg)
c.400G>C (p.Gly134Arg)
n.439G>C
c.439G>C (p.Gly147Arg)
n.437G>C
c.556G>C (p.Gly186Arg)
Xg.135998530G>TCA414749984SLC9A6c.652G>T (p.Gly218Ter)
c.496G>T (p.Gly166Ter)
c.400G>T (p.Gly134Ter)
n.439G>T
c.439G>T (p.Gly147Ter)
n.437G>T
c.556G>T (p.Gly186Ter)
Xg.135998531G>ACA414749987SLC9A6c.653G>A (p.Gly218Glu)
c.497G>A (p.Gly166Glu)
c.401G>A (p.Gly134Glu)
n.440G>A
c.440G>A (p.Gly147Glu)
n.438G>A
c.557G>A (p.Gly186Glu)
 gnomAD v4
Xg.135998531G>CCA414749988SLC9A6c.653G>C (p.Gly218Ala)
c.497G>C (p.Gly166Ala)
c.401G>C (p.Gly134Ala)
n.440G>C
c.440G>C (p.Gly147Ala)
n.438G>C
c.557G>C (p.Gly186Ala)
Xg.135998531G>TCA414749989SLC9A6c.653G>T (p.Gly218Val)
c.497G>T (p.Gly166Val)
c.401G>T (p.Gly134Val)
n.440G>T
c.440G>T (p.Gly147Val)
n.438G>T
c.557G>T (p.Gly186Val)
Xg.135998532A>CCA518744012SLC9A6c.654A>C (p.Gly218=)
c.498A>C (p.Gly166=)
c.402A>C (p.Gly134=)
n.441A>C
c.441A>C (p.Gly147=)
n.439A>C
c.558A>C (p.Gly186=)
Xg.135998532A>GCA518744016SLC9A6c.654A>G (p.Gly218=)
c.498A>G (p.Gly166=)
c.402A>G (p.Gly134=)
n.441A>G
c.441A>G (p.Gly147=)
n.439A>G
c.558A>G (p.Gly186=)
Xg.135998532A>TCA518744030SLC9A6c.654A>T (p.Gly218=)
c.498A>T (p.Gly166=)
c.402A>T (p.Gly134=)
n.441A>T
c.441A>T (p.Gly147=)
n.439A>T
c.558A>T (p.Gly186=)
Xg.135998533A>CCA414749990SLC9A6c.655A>C (p.Thr219Pro)
c.499A>C (p.Thr167Pro)
c.403A>C (p.Thr135Pro)
n.442A>C
c.442A>C (p.Thr148Pro)
n.440A>C
c.559A>C (p.Thr187Pro)
Xg.135998533A>GCA414749991SLC9A6c.655A>G (p.Thr219Ala)
c.499A>G (p.Thr167Ala)
c.403A>G (p.Thr135Ala)
n.442A>G
c.442A>G (p.Thr148Ala)
n.440A>G
c.559A>G (p.Thr187Ala)
Xg.135998533A>TCA414749992SLC9A6c.655A>T (p.Thr219Ser)
c.499A>T (p.Thr167Ser)
c.403A>T (p.Thr135Ser)
n.442A>T
c.442A>T (p.Thr148Ser)
n.440A>T
c.559A>T (p.Thr187Ser)
Xg.135998534C>ACA414749993SLC9A6c.656C>A (p.Thr219Lys)
c.500C>A (p.Thr167Lys)
c.404C>A (p.Thr135Lys)
n.443C>A
c.443C>A (p.Thr148Lys)
n.441C>A
c.560C>A (p.Thr187Lys)
Xg.135998534C>GCA414749994SLC9A6c.656C>G (p.Thr219Arg)
c.500C>G (p.Thr167Arg)
c.404C>G (p.Thr135Arg)
n.443C>G
c.443C>G (p.Thr148Arg)
n.441C>G
c.560C>G (p.Thr187Arg)
Xg.135998534C>TCA414749995SLC9A6c.656C>T (p.Thr219Ile)
c.500C>T (p.Thr167Ile)
c.404C>T (p.Thr135Ile)
n.443C>T
c.443C>T (p.Thr148Ile)
n.441C>T
c.560C>T (p.Thr187Ile)
Xg.135998535A=CA2460189943SLC9A6c.657A= (p.Thr219=)
c.501A= (p.Thr167=)
c.405A= (p.Thr135=)
n.444A=
c.444A= (p.Thr148=)
n.442A=
c.561A= (p.Thr187=)
Xg.135998535A>CCA518744059SLC9A6c.657A>C (p.Thr219=)
c.501A>C (p.Thr167=)
c.405A>C (p.Thr135=)
n.444A>C
c.444A>C (p.Thr148=)
n.442A>C
c.561A>C (p.Thr187=)
Xg.135998535A>GCA518744062SLC9A6c.657A>G (p.Thr219=)
c.501A>G (p.Thr167=)
c.405A>G (p.Thr135=)
n.444A>G
c.444A>G (p.Thr148=)
n.442A>G
c.561A>G (p.Thr187=)
 dbSNP gnomAD v4
Xg.135998535A>TCA518744066SLC9A6c.657A>T (p.Thr219=)
c.501A>T (p.Thr167=)
c.405A>T (p.Thr135=)
n.444A>T
c.444A>T (p.Thr148=)
n.442A>T
c.561A>T (p.Thr187=)
Xg.135998536G>ACA414749996SLC9A6c.658G>A (p.Ala220Thr)
c.502G>A (p.Ala168Thr)
c.406G>A (p.Ala136Thr)
n.445G>A
c.445G>A (p.Ala149Thr)
n.443G>A
c.562G>A (p.Ala188Thr)
 gnomAD v4
Xg.135998536G>CCA414749997SLC9A6c.658G>C (p.Ala220Pro)
c.502G>C (p.Ala168Pro)
c.406G>C (p.Ala136Pro)
n.445G>C
c.445G>C (p.Ala149Pro)
n.443G>C
c.562G>C (p.Ala188Pro)
Xg.135998536G>TCA414749998SLC9A6c.658G>T (p.Ala220Ser)
c.502G>T (p.Ala168Ser)
c.406G>T (p.Ala136Ser)
n.445G>T
c.445G>T (p.Ala149Ser)
n.443G>T
c.562G>T (p.Ala188Ser)
Xg.135998537C>ACA414750001SLC9A6c.659C>A (p.Ala220Glu)
c.503C>A (p.Ala168Glu)
c.407C>A (p.Ala136Glu)
n.446C>A
c.446C>A (p.Ala149Glu)
n.444C>A
c.563C>A (p.Ala188Glu)
Xg.135998537C>GCA414750000SLC9A6c.659C>G (p.Ala220Gly)
c.503C>G (p.Ala168Gly)
c.407C>G (p.Ala136Gly)
n.446C>G
c.446C>G (p.Ala149Gly)
n.444C>G
c.563C>G (p.Ala188Gly)
Xg.135998537C>TCA414749999SLC9A6c.659C>T (p.Ala220Val)
c.503C>T (p.Ala168Val)
c.407C>T (p.Ala136Val)
n.446C>T
c.446C>T (p.Ala149Val)
n.444C>T
c.563C>T (p.Ala188Val)
 gnomAD v4
Xg.135998538A=CA2460189944SLC9A6c.660A= (p.Ala220=)
c.504A= (p.Ala168=)
c.408A= (p.Ala136=)
n.447A=
c.447A= (p.Ala149=)
n.445A=
c.564A= (p.Ala188=)
Xg.135998538A>CCA518744086SLC9A6c.660A>C (p.Ala220=)
c.504A>C (p.Ala168=)
c.408A>C (p.Ala136=)
n.447A>C
c.447A>C (p.Ala149=)
n.445A>C
c.564A>C (p.Ala188=)
Xg.135998538A>GCA10524681SLC9A6c.660A>G (p.Ala220=)
c.504A>G (p.Ala168=)
c.408A>G (p.Ala136=)
n.447A>G
c.447A>G (p.Ala149=)
n.445A>G
c.564A>G (p.Ala188=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135998538A>TCA518744080SLC9A6c.660A>T (p.Ala220=)
c.504A>T (p.Ala168=)
c.408A>T (p.Ala136=)
n.447A>T
c.447A>T (p.Ala149=)
n.445A>T
c.564A>T (p.Ala188=)
Xg.135998539A>CCA414750002SLC9A6c.661A>C (p.Ile221Leu)
c.505A>C (p.Ile169Leu)
c.409A>C (p.Ile137Leu)
n.448A>C
c.448A>C (p.Ile150Leu)
n.446A>C
c.565A>C (p.Ile189Leu)
Xg.135998539A>GCA414750003SLC9A6c.661A>G (p.Ile221Val)
c.505A>G (p.Ile169Val)
c.409A>G (p.Ile137Val)
n.448A>G
c.448A>G (p.Ile150Val)
n.446A>G
c.565A>G (p.Ile189Val)
 gnomAD v4
Xg.135998539A>TCA414750004SLC9A6c.661A>T (p.Ile221Phe)
c.505A>T (p.Ile169Phe)
c.409A>T (p.Ile137Phe)
n.448A>T
c.448A>T (p.Ile150Phe)
n.446A>T
c.565A>T (p.Ile189Phe)
Xg.135998540T>ACA414750005SLC9A6c.662T>A (p.Ile221Asn)
c.506T>A (p.Ile169Asn)
c.410T>A (p.Ile137Asn)
n.449T>A
c.449T>A (p.Ile150Asn)
n.447T>A
c.566T>A (p.Ile189Asn)
 ClinVar
Xg.135998540T>CCA414750006SLC9A6c.662T>C (p.Ile221Thr)
c.506T>C (p.Ile169Thr)
c.410T>C (p.Ile137Thr)
n.449T>C
c.449T>C (p.Ile150Thr)
n.447T>C
c.566T>C (p.Ile189Thr)
Xg.135998540T>GCA414750007SLC9A6c.662T>G (p.Ile221Ser)
c.506T>G (p.Ile169Ser)
c.410T>G (p.Ile137Ser)
n.449T>G
c.449T>G (p.Ile150Ser)
n.447T>G
c.566T>G (p.Ile189Ser)
Xg.135998541T>ACA518744108SLC9A6c.663T>A (p.Ile221=)
c.507T>A (p.Ile169=)
c.411T>A (p.Ile137=)
n.450T>A
c.450T>A (p.Ile150=)
n.448T>A
c.567T>A (p.Ile189=)
Xg.135998541T>CCA518744111SLC9A6c.663T>C (p.Ile221=)
c.507T>C (p.Ile169=)
c.411T>C (p.Ile137=)
n.450T>C
c.450T>C (p.Ile150=)
n.448T>C
c.567T>C (p.Ile189=)
 gnomAD v4
Xg.135998541T>GCA414750008SLC9A6c.663T>G (p.Ile221Met)
c.507T>G (p.Ile169Met)
c.411T>G (p.Ile137Met)
n.450T>G
c.450T>G (p.Ile150Met)
n.448T>G
c.567T>G (p.Ile189Met)
Xg.135998542T>ACA414750009SLC9A6c.664T>A (p.Ser222Thr)
c.508T>A (p.Ser170Thr)
c.412T>A (p.Ser138Thr)
n.451T>A
c.451T>A (p.Ser151Thr)
n.449T>A
c.568T>A (p.Ser190Thr)
Xg.135998542T>CCA414750010SLC9A6c.664T>C (p.Ser222Pro)
c.508T>C (p.Ser170Pro)
c.412T>C (p.Ser138Pro)
n.451T>C
c.451T>C (p.Ser151Pro)
n.449T>C
c.568T>C (p.Ser190Pro)
Xg.135998542T>GCA414750011SLC9A6c.664T>G (p.Ser222Ala)
c.508T>G (p.Ser170Ala)
c.412T>G (p.Ser138Ala)
n.451T>G
c.451T>G (p.Ser151Ala)
n.449T>G
c.568T>G (p.Ser190Ala)
Xg.135998543C>ACA414750012SLC9A6c.665C>A (p.Ser222Tyr)
c.509C>A (p.Ser170Tyr)
c.413C>A (p.Ser138Tyr)
n.452C>A
c.452C>A (p.Ser151Tyr)
n.450C>A
c.569C>A (p.Ser190Tyr)
Xg.135998543C>GCA414750013SLC9A6c.665C>G (p.Ser222Cys)
c.509C>G (p.Ser170Cys)
c.413C>G (p.Ser138Cys)
n.452C>G
c.452C>G (p.Ser151Cys)
n.450C>G
c.569C>G (p.Ser190Cys)
Xg.135998543C>TCA414750014SLC9A6c.665C>T (p.Ser222Phe)
c.509C>T (p.Ser170Phe)
c.413C>T (p.Ser138Phe)
n.452C>T
c.452C>T (p.Ser151Phe)
n.450C>T
c.569C>T (p.Ser190Phe)
Xg.135998544T>ACA518744148SLC9A6c.666T>A (p.Ser222=)
c.510T>A (p.Ser170=)
c.414T>A (p.Ser138=)
n.453T>A
c.453T>A (p.Ser151=)
n.451T>A
c.570T>A (p.Ser190=)
Xg.135998544T>CCA518744152SLC9A6c.666T>C (p.Ser222=)
c.510T>C (p.Ser170=)
c.414T>C (p.Ser138=)
n.453T>C
c.453T>C (p.Ser151=)
n.451T>C
c.570T>C (p.Ser190=)
Xg.135998544T>GCA518744170SLC9A6c.666T>G (p.Ser222=)
c.510T>G (p.Ser170=)
c.414T>G (p.Ser138=)
n.453T>G
c.453T>G (p.Ser151=)
n.451T>G
c.570T>G (p.Ser190=)
Xg.135998545T>ACA414750015SLC9A6c.667T>A (p.Cys223Ser)
c.511T>A (p.Cys171Ser)
c.415T>A (p.Cys139Ser)
n.454T>A
c.454T>A (p.Cys152Ser)
n.452T>A
c.571T>A (p.Cys191Ser)
Xg.135998545T>CCA414750017SLC9A6c.667T>C (p.Cys223Arg)
c.511T>C (p.Cys171Arg)
c.415T>C (p.Cys139Arg)
n.454T>C
c.454T>C (p.Cys152Arg)
n.452T>C
c.571T>C (p.Cys191Arg)
 gnomAD v4
Xg.135998545T>GCA414750016SLC9A6c.667T>G (p.Cys223Gly)
c.511T>G (p.Cys171Gly)
c.415T>G (p.Cys139Gly)
n.454T>G
c.454T>G (p.Cys152Gly)
n.452T>G
c.571T>G (p.Cys191Gly)
Xg.135998546G>ACA414750018SLC9A6c.668G>A (p.Cys223Tyr)
c.512G>A (p.Cys171Tyr)
c.416G>A (p.Cys139Tyr)
n.455G>A
c.455G>A (p.Cys152Tyr)
n.453G>A
c.572G>A (p.Cys191Tyr)
 ClinVar
Xg.135998546G>CCA414750019SLC9A6c.668G>C (p.Cys223Ser)
c.512G>C (p.Cys171Ser)
c.416G>C (p.Cys139Ser)
n.455G>C
c.455G>C (p.Cys152Ser)
n.453G>C
c.572G>C (p.Cys191Ser)
Xg.135998546G>TCA414750020SLC9A6c.668G>T (p.Cys223Phe)
c.512G>T (p.Cys171Phe)
c.416G>T (p.Cys139Phe)
n.455G>T
c.455G>T (p.Cys152Phe)
n.453G>T
c.572G>T (p.Cys191Phe)
 gnomAD v4
Xg.135998547T>ACA414750021SLC9A6c.669T>A (p.Cys223Ter)
c.513T>A (p.Cys171Ter)
c.417T>A (p.Cys139Ter)
n.456T>A
c.456T>A (p.Cys152Ter)
n.454T>A
c.573T>A (p.Cys191Ter)
Xg.135998547T>CCA518744195SLC9A6c.669T>C (p.Cys223=)
c.513T>C (p.Cys171=)
c.417T>C (p.Cys139=)
n.456T>C
c.456T>C (p.Cys152=)
n.454T>C
c.573T>C (p.Cys191=)
 dbSNP gnomAD v3 gnomAD v4
Xg.135998547T>GCA414750022SLC9A6c.669T>G (p.Cys223Trp)
c.513T>G (p.Cys171Trp)
c.417T>G (p.Cys139Trp)
n.456T>G
c.456T>G (p.Cys152Trp)
n.454T>G
c.573T>G (p.Cys191Trp)
Xg.135998547T=CA2460189945SLC9A6c.669T= (p.Cys223=)
c.513T= (p.Cys171=)
c.417T= (p.Cys139=)
n.456T=
c.456T= (p.Cys152=)
n.454T=
c.573T= (p.Cys191=)
Xg.135998548T>ACA414750023SLC9A6c.670T>A (p.Phe224Ile)
c.514T>A (p.Phe172Ile)
c.418T>A (p.Phe140Ile)
n.457T>A
c.457T>A (p.Phe153Ile)
n.455T>A
c.574T>A (p.Phe192Ile)
Xg.135998548T>CCA414750024SLC9A6c.670T>C (p.Phe224Leu)
c.514T>C (p.Phe172Leu)
c.418T>C (p.Phe140Leu)
n.457T>C
c.457T>C (p.Phe153Leu)
n.455T>C
c.574T>C (p.Phe192Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.135998548T>GCA414750025SLC9A6c.670T>G (p.Phe224Val)
c.514T>G (p.Phe172Val)
c.418T>G (p.Phe140Val)
n.457T>G
c.457T>G (p.Phe153Val)
n.455T>G
c.574T>G (p.Phe192Val)
Xg.135998548T=CA2460189946SLC9A6c.670T= (p.Phe224=)
c.514T= (p.Phe172=)
c.418T= (p.Phe140=)
n.457T=
c.457T= (p.Phe153=)
n.455T=
c.574T= (p.Phe192=)
Xg.135998549T>ACA414750026SLC9A6c.671T>A (p.Phe224Tyr)
c.515T>A (p.Phe172Tyr)
c.419T>A (p.Phe140Tyr)
n.458T>A
c.458T>A (p.Phe153Tyr)
n.456T>A
c.575T>A (p.Phe192Tyr)
Xg.135998549T>CCA414750027SLC9A6c.671T>C (p.Phe224Ser)
c.515T>C (p.Phe172Ser)
c.419T>C (p.Phe140Ser)
n.458T>C
c.458T>C (p.Phe153Ser)
n.456T>C
c.575T>C (p.Phe192Ser)
Xg.135998549T>GCA414750028SLC9A6c.671T>G (p.Phe224Cys)
c.515T>G (p.Phe172Cys)
c.419T>G (p.Phe140Cys)
n.458T>G
c.458T>G (p.Phe153Cys)
n.456T>G
c.575T>G (p.Phe192Cys)
Xg.135998550C>ACA414750030SLC9A6c.672C>A (p.Phe224Leu)
c.516C>A (p.Phe172Leu)
c.420C>A (p.Phe140Leu)
n.459C>A
c.459C>A (p.Phe153Leu)
n.457C>A
c.576C>A (p.Phe192Leu)
 gnomAD v4
Xg.135998550C=CA2460189947SLC9A6c.672C= (p.Phe224=)
c.516C= (p.Phe172=)
c.420C= (p.Phe140=)
n.459C=
c.459C= (p.Phe153=)
n.457C=
c.576C= (p.Phe192=)
Xg.135998550C>GCA414750029SLC9A6c.672C>G (p.Phe224Leu)
c.516C>G (p.Phe172Leu)
c.420C>G (p.Phe140Leu)
n.459C>G
c.459C>G (p.Phe153Leu)
n.457C>G
c.576C>G (p.Phe192Leu)
Xg.135998550C>TCA518744234SLC9A6c.672C>T (p.Phe224=)
c.516C>T (p.Phe172=)
c.420C>T (p.Phe140=)
n.459C>T
c.459C>T (p.Phe153=)
n.457C>T
c.576C>T (p.Phe192=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.135998551G>ACA10524682SLC9A6c.673G>A (p.Val225Ile)
c.517G>A (p.Val173Ile)
c.421G>A (p.Val141Ile)
n.460G>A
c.460G>A (p.Val154Ile)
n.458G>A
c.577G>A (p.Val193Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135998551G>CCA414750032SLC9A6c.673G>C (p.Val225Leu)
c.517G>C (p.Val173Leu)
c.421G>C (p.Val141Leu)
n.460G>C
c.460G>C (p.Val154Leu)
n.458G>C
c.577G>C (p.Val193Leu)
Xg.135998551G=CA2460189948SLC9A6c.673G= (p.Val225=)
c.517G= (p.Val173=)
c.421G= (p.Val141=)
n.460G=
c.460G= (p.Val154=)
n.458G=
c.577G= (p.Val193=)
Xg.135998551G>TCA414750031SLC9A6c.673G>T (p.Val225Phe)
c.517G>T (p.Val173Phe)
c.421G>T (p.Val141Phe)
n.460G>T
c.460G>T (p.Val154Phe)
n.458G>T
c.577G>T (p.Val193Phe)
Xg.135998552T>ACA414750033SLC9A6c.674T>A (p.Val225Asp)
c.518T>A (p.Val173Asp)
c.422T>A (p.Val141Asp)
n.461T>A
c.461T>A (p.Val154Asp)
n.459T>A
c.578T>A (p.Val193Asp)
Xg.135998552T>CCA414750034SLC9A6c.674T>C (p.Val225Ala)
c.518T>C (p.Val173Ala)
c.422T>C (p.Val141Ala)
n.461T>C
c.461T>C (p.Val154Ala)
n.459T>C
c.578T>C (p.Val193Ala)
 gnomAD v4
Xg.135998552T>GCA414750035SLC9A6c.674T>G (p.Val225Gly)
c.518T>G (p.Val173Gly)
c.422T>G (p.Val141Gly)
n.461T>G
c.461T>G (p.Val154Gly)
n.459T>G
c.578T>G (p.Val193Gly)
Xg.135998553T>ACA518744271SLC9A6c.675T>A (p.Val225=)
c.519T>A (p.Val173=)
c.423T>A (p.Val141=)
n.462T>A
c.462T>A (p.Val154=)
n.460T>A
c.579T>A (p.Val193=)
Xg.135998553T>CCA518744272SLC9A6c.675T>C (p.Val225=)
c.519T>C (p.Val173=)
c.423T>C (p.Val141=)
n.462T>C
c.462T>C (p.Val154=)
n.460T>C
c.579T>C (p.Val193=)
Xg.135998553T>GCA518744274SLC9A6c.675T>G (p.Val225=)
c.519T>G (p.Val173=)
c.423T>G (p.Val141=)
n.462T>G
c.462T>G (p.Val154=)
n.460T>G
c.579T>G (p.Val193=)
Xg.135998554A>CCA414750036SLC9A6c.676A>C (p.Ile226Leu)
c.520A>C (p.Ile174Leu)
c.424A>C (p.Ile142Leu)
n.463A>C
c.463A>C (p.Ile155Leu)
n.461A>C
c.580A>C (p.Ile194Leu)
Xg.135998554A>GCA414750037SLC9A6c.676A>G (p.Ile226Val)
c.520A>G (p.Ile174Val)
c.424A>G (p.Ile142Val)
n.463A>G
c.463A>G (p.Ile155Val)
n.461A>G
c.580A>G (p.Ile194Val)
 gnomAD v4
Xg.135998554A>TCA414750038SLC9A6c.676A>T (p.Ile226Phe)
c.520A>T (p.Ile174Phe)
c.424A>T (p.Ile142Phe)
n.463A>T
c.463A>T (p.Ile155Phe)
n.461A>T
c.580A>T (p.Ile194Phe)
Xg.135998555T>ACA414750039SLC9A6c.677T>A (p.Ile226Asn)
c.521T>A (p.Ile174Asn)
c.425T>A (p.Ile142Asn)
n.464T>A
c.464T>A (p.Ile155Asn)
n.462T>A
c.581T>A (p.Ile194Asn)
Xg.135998555T>CCA414750040SLC9A6c.677T>C (p.Ile226Thr)
c.521T>C (p.Ile174Thr)
c.425T>C (p.Ile142Thr)
n.464T>C
c.464T>C (p.Ile155Thr)
n.462T>C
c.581T>C (p.Ile194Thr)
 gnomAD v4
Xg.135998555T>GCA414750041SLC9A6c.677T>G (p.Ile226Ser)
c.521T>G (p.Ile174Ser)
c.425T>G (p.Ile142Ser)
n.464T>G
c.464T>G (p.Ile155Ser)
n.462T>G
c.581T>G (p.Ile194Ser)
Xg.135998556T>ACA518744313SLC9A6c.678T>A (p.Ile226=)
c.522T>A (p.Ile174=)
c.426T>A (p.Ile142=)
n.465T>A
c.465T>A (p.Ile155=)
n.463T>A
c.582T>A (p.Ile194=)
Xg.135998556T>CCA518744320SLC9A6c.678T>C (p.Ile226=)
c.522T>C (p.Ile174=)
c.426T>C (p.Ile142=)
n.465T>C
c.465T>C (p.Ile155=)
n.463T>C
c.582T>C (p.Ile194=)
Xg.135998556T>GCA10524683SLC9A6c.678T>G (p.Ile226Met)
c.522T>G (p.Ile174Met)
c.426T>G (p.Ile142Met)
n.465T>G
c.465T>G (p.Ile155Met)
n.463T>G
c.582T>G (p.Ile194Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.135998556T=CA2460189949SLC9A6c.678T= (p.Ile226=)
c.522T= (p.Ile174=)
c.426T= (p.Ile142=)
n.465T=
c.465T= (p.Ile155=)
n.463T=
c.582T= (p.Ile194=)
Xg.135998557G>ACA414750042SLC9A6c.679G>A (p.Gly227Arg)
c.523G>A (p.Gly175Arg)
c.427G>A (p.Gly143Arg)
n.466G>A
c.466G>A (p.Gly156Arg)
n.464G>A
c.583G>A (p.Gly195Arg)
 gnomAD v4
Xg.135998557G>CCA414750043SLC9A6c.679G>C (p.Gly227Arg)
c.523G>C (p.Gly175Arg)
c.427G>C (p.Gly143Arg)
n.466G>C
c.466G>C (p.Gly156Arg)
n.464G>C
c.583G>C (p.Gly195Arg)
Xg.135998557G>TCA414750044SLC9A6c.679G>T (p.Gly227Trp)
c.523G>T (p.Gly175Trp)
c.427G>T (p.Gly143Trp)
n.466G>T
c.466G>T (p.Gly156Trp)
n.464G>T
c.583G>T (p.Gly195Trp)
Xg.135998558G>ACA414750047SLC9A6c.680G>A (p.Gly227Glu)
c.524G>A (p.Gly175Glu)
c.428G>A (p.Gly143Glu)
n.467G>A
c.467G>A (p.Gly156Glu)
n.465G>A
c.584G>A (p.Gly195Glu)
Xg.135998558G>CCA414750045SLC9A6c.680G>C (p.Gly227Ala)
c.524G>C (p.Gly175Ala)
c.428G>C (p.Gly143Ala)
n.467G>C
c.467G>C (p.Gly156Ala)
n.465G>C
c.584G>C (p.Gly195Ala)
Xg.135998558G>TCA414750046SLC9A6c.680G>T (p.Gly227Val)
c.524G>T (p.Gly175Val)
c.428G>T (p.Gly143Val)
n.467G>T
c.467G>T (p.Gly156Val)
n.465G>T
c.584G>T (p.Gly195Val)
Xg.135998559G>ACA318521SLC9A6c.680+1G>A (n.680+1G>A)
c.524+1G>A (n.524+1G>A)
c.428+1G>A (n.428+1G>A)
n.467+1G>A
c.467+1G>A (n.467+1G>A)
n.465+1G>A
c.584+1G>A (n.584+1G>A)
 dbSNP gnomAD v4
Xg.135998559G>CCA414750048SLC9A6c.680+1G>C (n.680+1G>C)
c.524+1G>C (n.524+1G>C)
c.428+1G>C (n.428+1G>C)
n.467+1G>C
c.467+1G>C (n.467+1G>C)
n.465+1G>C
c.584+1G>C (n.584+1G>C)
Xg.135998559G=CA2460189950SLC9A6c.680+1G= (n.680+1G=)
c.524+1G= (n.524+1G=)
c.428+1G= (n.428+1G=)
n.467+1G=
c.467+1G= (n.467+1G=)
n.465+1G=
c.584+1G= (n.584+1G=)
Xg.135998559G>TCA414750049SLC9A6c.680+1G>T (n.680+1G>T)
c.524+1G>T (n.524+1G>T)
c.428+1G>T (n.428+1G>T)
n.467+1G>T
c.467+1G>T (n.467+1G>T)
n.465+1G>T
c.584+1G>T (n.584+1G>T)
 gnomAD v4
Xg.135998560T>ACA414750050SLC9A6c.680+2T>A (n.680+2T>A)
c.524+2T>A (n.524+2T>A)
c.428+2T>A (n.428+2T>A)
n.467+2T>A
c.467+2T>A (n.467+2T>A)
n.465+2T>A
c.584+2T>A (n.584+2T>A)
 gnomAD v4
Xg.135998560T>CCA414750051SLC9A6c.680+2T>C (n.680+2T>C)
c.524+2T>C (n.524+2T>C)
c.428+2T>C (n.428+2T>C)
n.467+2T>C
c.467+2T>C (n.467+2T>C)
n.465+2T>C
c.584+2T>C (n.584+2T>C)
 gnomAD v4
Xg.135998560T>GCA414750052SLC9A6c.680+2T>G (n.680+2T>G)
c.524+2T>G (n.524+2T>G)
c.428+2T>G (n.428+2T>G)
n.467+2T>G
c.467+2T>G (n.467+2T>G)
n.465+2T>G
c.584+2T>G (n.584+2T>G)
Xg.135998561A=CA2460189951SLC9A6c.680+3A= (n.680+3A=)
c.524+3A= (n.524+3A=)
c.428+3A= (n.428+3A=)
n.467+3A=
c.467+3A= (n.467+3A=)
n.465+3A=
c.584+3A= (n.584+3A=)
Xg.135998561A>GCA10524684SLC9A6c.680+3A>G (n.680+3A>G)
c.524+3A>G (n.524+3A>G)
c.428+3A>G (n.428+3A>G)
n.467+3A>G
c.467+3A>G (n.467+3A>G)
n.465+3A>G
c.584+3A>G (n.584+3A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135998562delCA2579709684SLC9A6c.680+4del (n.680+4del)
c.524+4del (n.524+4del)
c.428+4del (n.428+4del)
n.467+4del
c.467+4del (n.467+4del)
n.465+4del
c.584+4del (n.584+4del)
Xg.135998562A>GCA2694793706SLC9A6c.680+4A>G (n.680+4A>G)
c.524+4A>G (n.524+4A>G)
c.428+4A>G (n.428+4A>G)
n.467+4A>G
c.467+4A>G (n.467+4A>G)
n.465+4A>G
c.584+4A>G (n.584+4A>G)
 gnomAD v4
Xg.135998563G>ACA318523SLC9A6c.680+5G>A (n.680+5G>A)
c.524+5G>A (n.524+5G>A)
c.428+5G>A (n.428+5G>A)
n.467+5G>A
c.467+5G>A (n.467+5G>A)
n.465+5G>A
c.584+5G>A (n.584+5G>A)
 ClinVar dbSNP
Xg.135998563G=CA2460189953SLC9A6c.680+5G= (n.680+5G=)
c.524+5G= (n.524+5G=)
c.428+5G= (n.428+5G=)
n.467+5G=
c.467+5G= (n.467+5G=)
n.465+5G=
c.584+5G= (n.584+5G=)
Xg.135998563_135998568delinsGTATTTCA2460189952SLC9A6c.680+5_680+10delinsGTATTT (n.680+5_680+10delinsGTATTT)
c.524+5_524+10delinsGTATTT (n.524+5_524+10delinsGTATTT)
c.428+5_428+10delinsGTATTT (n.428+5_428+10delinsGTATTT)
n.467+5_467+10delinsGTATTT
c.467+5_467+10delinsGTATTT (n.467+5_467+10delinsGTATTT)
n.465+5_465+10delinsGTATTT
c.584+5_584+10delinsGTATTT (n.584+5_584+10delinsGTATTT)
Xg.135998564T>CCA2694793707SLC9A6c.680+6T>C (n.680+6T>C)
c.524+6T>C (n.524+6T>C)
c.428+6T>C (n.428+6T>C)
n.467+6T>C
c.467+6T>C (n.467+6T>C)
n.465+6T>C
c.584+6T>C (n.584+6T>C)
 gnomAD v4
Xg.135998566_135998570delCA10524685SLC9A6c.680+8_680+12del (n.680+8_680+12del)
c.524+8_524+12del (n.524+8_524+12del)
c.428+8_428+12del (n.428+8_428+12del)
n.467+8_467+12del
c.467+8_467+12del (n.467+8_467+12del)
n.465+8_465+12del
c.584+8_584+12del (n.584+8_584+12del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135998565A>GCA2694793708SLC9A6c.680+7A>G (n.680+7A>G)
c.524+7A>G (n.524+7A>G)
c.428+7A>G (n.428+7A>G)
n.467+7A>G
c.467+7A>G (n.467+7A>G)
n.465+7A>G
c.584+7A>G (n.584+7A>G)
 gnomAD v4
Xg.135998568T>CCA2694793709SLC9A6c.680+10T>C (n.680+10T>C)
c.524+10T>C (n.524+10T>C)
c.428+10T>C (n.428+10T>C)
n.467+10T>C
c.467+10T>C (n.467+10T>C)
n.465+10T>C
c.584+10T>C (n.584+10T>C)
 gnomAD v4
Xg.135998569T>ACA2694793710SLC9A6c.680+11T>A (n.680+11T>A)
c.524+11T>A (n.524+11T>A)
c.428+11T>A (n.428+11T>A)
n.467+11T>A
c.467+11T>A (n.467+11T>A)
n.465+11T>A
c.584+11T>A (n.584+11T>A)
 gnomAD v4
Xg.135998569T>CCA2460189955SLC9A6c.680+11T>C (n.680+11T>C)
c.524+11T>C (n.524+11T>C)
c.428+11T>C (n.428+11T>C)
n.467+11T>C
c.467+11T>C (n.467+11T>C)
n.465+11T>C
c.584+11T>C (n.584+11T>C)
 dbSNP
Xg.135998569T=CA2460189954SLC9A6c.680+11T= (n.680+11T=)
c.524+11T= (n.524+11T=)
c.428+11T= (n.428+11T=)
n.467+11T=
c.467+11T= (n.467+11T=)
n.465+11T=
c.584+11T= (n.584+11T=)
Xg.135998570A=CA2460189956SLC9A6c.680+12A= (n.680+12A=)
c.524+12A= (n.524+12A=)
c.428+12A= (n.428+12A=)
n.467+12A=
c.467+12A= (n.467+12A=)
n.465+12A=
c.584+12A= (n.584+12A=)
Xg.135998570A>TCA644623067SLC9A6c.680+12A>T (n.680+12A>T)
c.524+12A>T (n.524+12A>T)
c.428+12A>T (n.428+12A>T)
n.467+12A>T
c.467+12A>T (n.467+12A>T)
n.465+12A>T
c.584+12A>T (n.584+12A>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.135998572G=CA2460189957SLC9A6c.680+14G= (n.680+14G=)
c.524+14G= (n.524+14G=)
c.428+14G= (n.428+14G=)
n.467+14G=
c.467+14G= (n.467+14G=)
n.465+14G=
c.584+14G= (n.584+14G=)
Xg.135998572G>TCA10524686SLC9A6c.680+14G>T (n.680+14G>T)
c.524+14G>T (n.524+14G>T)
c.428+14G>T (n.428+14G>T)
n.467+14G>T
c.467+14G>T (n.467+14G>T)
n.465+14G>T
c.584+14G>T (n.584+14G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135998573C>ACA2694793711SLC9A6c.680+15C>A (n.680+15C>A)
c.524+15C>A (n.524+15C>A)
c.428+15C>A (n.428+15C>A)
n.467+15C>A
c.467+15C>A (n.467+15C>A)
n.465+15C>A
c.584+15C>A (n.584+15C>A)
 gnomAD v4
Xg.135998574T>CCA2694793712SLC9A6c.680+16T>C (n.680+16T>C)
c.524+16T>C (n.524+16T>C)
c.428+16T>C (n.428+16T>C)
n.467+16T>C
c.467+16T>C (n.467+16T>C)
n.465+16T>C
c.584+16T>C (n.584+16T>C)
 gnomAD v4
Xg.135998575T>ACA2694793713SLC9A6c.680+17T>A (n.680+17T>A)
c.524+17T>A (n.524+17T>A)
c.428+17T>A (n.428+17T>A)
n.467+17T>A
c.467+17T>A (n.467+17T>A)
n.465+17T>A
c.584+17T>A (n.584+17T>A)
 gnomAD v4
Xg.135998576A>GCA2579709693SLC9A6c.680+18A>G (n.680+18A>G)
c.524+18A>G (n.524+18A>G)
c.428+18A>G (n.428+18A>G)
n.467+18A>G
c.467+18A>G (n.467+18A>G)
n.465+18A>G
c.584+18A>G (n.584+18A>G)
Xg.135998579dupCA2694793714SLC9A6c.680+21dup (n.680+21dup)
c.524+21dup (n.524+21dup)
c.428+21dup (n.428+21dup)
n.467+21dup
c.467+21dup (n.467+21dup)
n.465+21dup
c.584+21dup (n.584+21dup)
 gnomAD v4
Xg.135998578A>GCA2694793715SLC9A6c.680+20A>G (n.680+20A>G)
c.524+20A>G (n.524+20A>G)
c.428+20A>G (n.428+20A>G)
n.467+20A>G
c.467+20A>G (n.467+20A>G)
n.465+20A>G
c.584+20A>G (n.584+20A>G)
 gnomAD v4
Xg.135998579A>GCA2694793716SLC9A6c.680+21A>G (n.680+21A>G)
c.524+21A>G (n.524+21A>G)
c.428+21A>G (n.428+21A>G)
n.467+21A>G
c.467+21A>G (n.467+21A>G)
n.465+21A>G
c.584+21A>G (n.584+21A>G)
 gnomAD v4
Xg.135998580T>GCA2694793717SLC9A6c.680+22T>G (n.680+22T>G)
c.524+22T>G (n.524+22T>G)
c.428+22T>G (n.428+22T>G)
n.467+22T>G
c.467+22T>G (n.467+22T>G)
n.465+22T>G
c.584+22T>G (n.584+22T>G)
 gnomAD v4
Xg.135998582C>ACA2579709695SLC9A6c.680+24C>A (n.680+24C>A)
c.524+24C>A (n.524+24C>A)
c.428+24C>A (n.428+24C>A)
n.467+24C>A
c.467+24C>A (n.467+24C>A)
n.465+24C>A
c.584+24C>A (n.584+24C>A)
 gnomAD v4
Xg.135998582C=CA2460189958SLC9A6c.680+24C= (n.680+24C=)
c.524+24C= (n.524+24C=)
c.428+24C= (n.428+24C=)
n.467+24C=
c.467+24C= (n.467+24C=)
n.465+24C=
c.584+24C= (n.584+24C=)
Xg.135998582C>TCA644623068SLC9A6c.680+24C>T (n.680+24C>T)
c.524+24C>T (n.524+24C>T)
c.428+24C>T (n.428+24C>T)
n.467+24C>T
c.467+24C>T (n.467+24C>T)
n.465+24C>T
c.584+24C>T (n.584+24C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.135998583T>ACA2694793718SLC9A6c.680+25T>A (n.680+25T>A)
c.524+25T>A (n.524+25T>A)
c.428+25T>A (n.428+25T>A)
n.467+25T>A
c.467+25T>A (n.467+25T>A)
n.465+25T>A
c.584+25T>A (n.584+25T>A)
 gnomAD v4
Xg.135998584T>CCA2694793719SLC9A6c.680+26T>C (n.680+26T>C)
c.524+26T>C (n.524+26T>C)
c.428+26T>C (n.428+26T>C)
n.467+26T>C
c.467+26T>C (n.467+26T>C)
n.465+26T>C
c.584+26T>C (n.584+26T>C)
 gnomAD v4
Xg.135998585T>ACA2579709698SLC9A6c.680+27T>A (n.680+27T>A)
c.524+27T>A (n.524+27T>A)
c.428+27T>A (n.428+27T>A)
n.467+27T>A
c.467+27T>A (n.467+27T>A)
n.465+27T>A
c.584+27T>A (n.584+27T>A)
Xg.135998585T>CCA2694793720SLC9A6c.680+27T>C (n.680+27T>C)
c.524+27T>C (n.524+27T>C)
c.428+27T>C (n.428+27T>C)
n.467+27T>C
c.467+27T>C (n.467+27T>C)
n.465+27T>C
c.584+27T>C (n.584+27T>C)
 gnomAD v4
Xg.135998587T>CCA2694793721SLC9A6c.680+29T>C (n.680+29T>C)
c.524+29T>C (n.524+29T>C)
c.428+29T>C (n.428+29T>C)
n.467+29T>C
c.467+29T>C (n.467+29T>C)
n.465+29T>C
c.584+29T>C (n.584+29T>C)
 gnomAD v4
Xg.135998588G>ACA2694793722SLC9A6c.680+30G>A (n.680+30G>A)
c.524+30G>A (n.524+30G>A)
c.428+30G>A (n.428+30G>A)
n.467+30G>A
c.467+30G>A (n.467+30G>A)
n.465+30G>A
c.584+30G>A (n.584+30G>A)
 gnomAD v4
Xg.135998588G>TCA2694793723SLC9A6c.680+30G>T (n.680+30G>T)
c.524+30G>T (n.524+30G>T)
c.428+30G>T (n.428+30G>T)
n.467+30G>T
c.467+30G>T (n.467+30G>T)
n.465+30G>T
c.584+30G>T (n.584+30G>T)
 gnomAD v4
Xg.135998589G>ACA2823729194SLC9A6c.680+31G>A (n.680+31G>A)
c.524+31G>A (n.524+31G>A)
c.428+31G>A (n.428+31G>A)
n.467+31G>A
c.467+31G>A (n.467+31G>A)
n.465+31G>A
c.584+31G>A (n.584+31G>A)
Xg.135998590C>ACA2694793724SLC9A6c.680+32C>A (n.680+32C>A)
c.524+32C>A (n.524+32C>A)
c.428+32C>A (n.428+32C>A)
n.467+32C>A
c.467+32C>A (n.467+32C>A)
n.465+32C>A
c.584+32C>A (n.584+32C>A)
 dbSNP gnomAD v4
Xg.135998590C>TCA2694793725SLC9A6c.680+32C>T (n.680+32C>T)
c.524+32C>T (n.524+32C>T)
c.428+32C>T (n.428+32C>T)
n.467+32C>T
c.467+32C>T (n.467+32C>T)
n.465+32C>T
c.584+32C>T (n.584+32C>T)
 gnomAD v4

Number of alleles fetched