Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.135985673C>ACA518490579SLC9A6c.171C>A (p.Ile57=)
c.15C>A (p.Ile5=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985673C=CA2460185460SLC9A6c.171C= (p.Ile57=)
c.15C= (p.Ile5=)
Xg.135985673C>GCA10524605SLC9A6c.171C>G (p.Ile57Met)
c.15C>G (p.Ile5Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985673C>TCA518490580SLC9A6c.171C>T (p.Ile57=)
c.15C>T (p.Ile5=)
Xg.135985674G>ACA414606666SLC9A6c.172G>A (p.Val58Met)
c.16G>A (p.Val6Met)
Xg.135985674G>CCA414606667SLC9A6c.172G>C (p.Val58Leu)
c.16G>C (p.Val6Leu)
Xg.135985674G>TCA414606668SLC9A6c.172G>T (p.Val58Leu)
c.16G>T (p.Val6Leu)
Xg.135985675T>ACA414606669SLC9A6c.173T>A (p.Val58Glu)
c.17T>A (p.Val6Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985675T>CCA414606671SLC9A6c.173T>C (p.Val58Ala)
c.17T>C (p.Val6Ala)
Xg.135985675T>GCA414606670SLC9A6c.173T>G (p.Val58Gly)
c.17T>G (p.Val6Gly)
Xg.135985675T=CA2460185461SLC9A6c.173T= (p.Val58=)
c.17T= (p.Val6=)
Xg.135985676G>ACA518490590SLC9A6c.174G>A (p.Val58=)
c.18G>A (p.Val6=)
Xg.135985676G>CCA518490591SLC9A6c.174G>C (p.Val58=)
c.18G>C (p.Val6=)
Xg.135985676G>TCA518490593SLC9A6c.174G>T (p.Val58=)
c.18G>T (p.Val6=)
Xg.135985677T>ACA414606672SLC9A6c.175T>A (p.Ser59Thr)
c.19T>A (p.Ser7Thr)
Xg.135985677T>CCA414606673SLC9A6c.175T>C (p.Ser59Pro)
c.19T>C (p.Ser7Pro)
Xg.135985677T>GCA414606674SLC9A6c.175T>G (p.Ser59Ala)
c.19T>G (p.Ser7Ala)
 gnomAD v4
Xg.135985678C>ACA414606675SLC9A6c.176C>A (p.Ser59Tyr)
c.20C>A (p.Ser7Tyr)
 gnomAD v4
Xg.135985678C>GCA414606676SLC9A6c.176C>G (p.Ser59Cys)
c.20C>G (p.Ser7Cys)
Xg.135985678C>TCA414606677SLC9A6c.176C>T (p.Ser59Phe)
c.20C>T (p.Ser7Phe)
Xg.135985679C>ACA518490597SLC9A6c.177C>A (p.Ser59=)
c.21C>A (p.Ser7=)
Xg.135985679C=CA2460185462SLC9A6c.177C= (p.Ser59=)
c.21C= (p.Ser7=)
Xg.135985679C>GCA10524606SLC9A6c.177C>G (p.Ser59=)
c.21C>G (p.Ser7=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.135985679C>TCA518490598SLC9A6c.177C>T (p.Ser59=)
c.21C>T (p.Ser7=)
 dbSNP gnomAD v2 gnomAD v4
Xg.135985680G>ACA414606678SLC9A6c.178G>A (p.Glu60Lys)
c.22G>A (p.Glu8Lys)
Xg.135985680G>CCA414606679SLC9A6c.178G>C (p.Glu60Gln)
c.22G>C (p.Glu8Gln)
 ClinVar dbSNP
Xg.135985680G>TCA414606680SLC9A6c.178G>T (p.Glu60Ter)
c.22G>T (p.Glu8Ter)
Xg.135985681A>CCA414606681SLC9A6c.179A>C (p.Glu60Ala)
c.23A>C (p.Glu8Ala)
Xg.135985681A>GCA414606682SLC9A6c.179A>G (p.Glu60Gly)
c.23A>G (p.Glu8Gly)
Xg.135985681A>TCA414606683SLC9A6c.179A>T (p.Glu60Val)
c.23A>T (p.Glu8Val)
Xg.135985682G>ACA518490603SLC9A6c.180G>A (p.Glu60=)
c.24G>A (p.Glu8=)
Xg.135985682G>CCA414606685SLC9A6c.180G>C (p.Glu60Asp)
c.24G>C (p.Glu8Asp)
 COSMIC COSMIC
Xg.135985682G>TCA414606684SLC9A6c.180G>T (p.Glu60Asp)
c.24G>T (p.Glu8Asp)
Xg.135985683A>CCA414606686SLC9A6c.181A>C (p.Lys61Gln)
c.25A>C (p.Lys9Gln)
Xg.135985683A>GCA414606687SLC9A6c.181A>G (p.Lys61Glu)
c.25A>G (p.Lys9Glu)
Xg.135985683A>TCA414606688SLC9A6c.181A>T (p.Lys61Ter)
c.25A>T (p.Lys9Ter)
Xg.135985684A=CA2460185464SLC9A6c.182A= (p.Lys61=)
c.26A= (p.Lys9=)
Xg.135985684A>CCA414606689SLC9A6c.182A>C (p.Lys61Thr)
c.26A>C (p.Lys9Thr)
Xg.135985684A>GCA10524607SLC9A6c.182A>G (p.Lys61Arg)
c.26A>G (p.Lys9Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985684A>TCA414606690SLC9A6c.182A>T (p.Lys61Met)
c.26A>T (p.Lys9Met)
Xg.135985684_135985685delinsAGCA2460185463SLC9A6c.182_183delinsAG (p.Lys61=)
c.26_27delinsAG (p.Lys9=)
Xg.135985685_135985687delCA2546487587SLC9A6c.183_185del (p.Gln62del)
c.27_29del (p.Gln10del)
Xg.135985685delCA173495SLC9A6c.183del (p.Lys61AsnfsTer?)
c.27del (p.Lys9AsnfsTer?)
 ClinVar dbSNP
Xg.135985685G>ACA518490611SLC9A6c.183G>A (p.Lys61=)
c.27G>A (p.Lys9=)
Xg.135985685G>CCA414606691SLC9A6c.183G>C (p.Lys61Asn)
c.27G>C (p.Lys9Asn)
Xg.135985685G>TCA414606692SLC9A6c.183G>T (p.Lys61Asn)
c.27G>T (p.Lys9Asn)
Xg.135985686C>ACA414606693SLC9A6c.184C>A (p.Gln62Lys)
c.28C>A (p.Gln10Lys)
Xg.135985686C>GCA414606694SLC9A6c.184C>G (p.Gln62Glu)
c.28C>G (p.Gln10Glu)
Xg.135985686C>TCA414606695SLC9A6c.184C>T (p.Gln62Ter)
c.28C>T (p.Gln10Ter)
Xg.135985687A>CCA414606696SLC9A6c.185A>C (p.Gln62Pro)
c.29A>C (p.Gln10Pro)
Xg.135985687A>GCA414606698SLC9A6c.185A>G (p.Gln62Arg)
c.29A>G (p.Gln10Arg)
Xg.135985687A>TCA414606697SLC9A6c.185A>T (p.Gln62Leu)
c.29A>T (p.Gln10Leu)
Xg.135985688A>CCA414606699SLC9A6c.186A>C (p.Gln62His)
c.30A>C (p.Gln10His)
Xg.135985688A>GCA518490617SLC9A6c.186A>G (p.Gln62=)
c.30A>G (p.Gln10=)
Xg.135985688A>TCA414606700SLC9A6c.186A>T (p.Gln62His)
c.30A>T (p.Gln10His)
Xg.135985689G>ACA414606701SLC9A6c.187G>A (p.Ala63Thr)
c.31G>A (p.Ala11Thr)
Xg.135985689G>CCA414606702SLC9A6c.187G>C (p.Ala63Pro)
c.31G>C (p.Ala11Pro)
Xg.135985689G>TCA414606703SLC9A6c.187G>T (p.Ala63Ser)
c.31G>T (p.Ala11Ser)
Xg.135985690C>ACA414606704SLC9A6c.188C>A (p.Ala63Asp)
c.32C>A (p.Ala11Asp)
Xg.135985690C>GCA414606705SLC9A6c.188C>G (p.Ala63Gly)
c.32C>G (p.Ala11Gly)
Xg.135985690C>TCA414606706SLC9A6c.188C>T (p.Ala63Val)
c.32C>T (p.Ala11Val)
Xg.135985690_135985691insGGCA2568827979SLC9A6c.188_189insGG (p.Glu64AlafsTer?)
c.32_33insGG (p.Glu12AlafsTer?)
Xg.135985691C>ACA518490621SLC9A6c.189C>A (p.Ala63=)
c.33C>A (p.Ala11=)
Xg.135985691C=CA2460185465SLC9A6c.189C= (p.Ala63=)
c.33C= (p.Ala11=)
Xg.135985691C>GCA10524608SLC9A6c.189C>G (p.Ala63=)
c.33C>G (p.Ala11=)
 dbSNP ExAC
Xg.135985691C>TCA518490625SLC9A6c.189C>T (p.Ala63=)
c.33C>T (p.Ala11=)
 COSMIC COSMIC
Xg.135985692G>ACA414606707SLC9A6c.190G>A (p.Glu64Lys)
c.34G>A (p.Glu12Lys)
Xg.135985692G>CCA414606708SLC9A6c.190G>C (p.Glu64Gln)
c.34G>C (p.Glu12Gln)
Xg.135985692G>TCA414606709SLC9A6c.190G>T (p.Glu64Ter)
c.34G>T (p.Glu12Ter)
Xg.135985692dupCA2560147454SLC9A6c.190dup (p.Glu64GlyfsTer?)
c.34dup (p.Glu12GlyfsTer?)
Xg.135985693A>CCA414606710SLC9A6c.191A>C (p.Glu64Ala)
c.35A>C (p.Glu12Ala)
Xg.135985693A>GCA414606711SLC9A6c.191A>G (p.Glu64Gly)
c.35A>G (p.Glu12Gly)
Xg.135985693A>TCA414606712SLC9A6c.191A>T (p.Glu64Val)
c.35A>T (p.Glu12Val)
Xg.135985694G>ACA518490632SLC9A6c.192G>A (p.Glu64=)
c.36G>A (p.Glu12=)
Xg.135985694G>CCA414606713SLC9A6c.192G>C (p.Glu64Asp)
c.36G>C (p.Glu12Asp)
 gnomAD v4
Xg.135985694G>TCA414606714SLC9A6c.192G>T (p.Glu64Asp)
c.36G>T (p.Glu12Asp)
Xg.135985695G>ACA414606715SLC9A6c.193G>A (p.Glu65Lys)
c.37G>A (p.Glu13Lys)
Xg.135985695G>CCA414606716SLC9A6c.193G>C (p.Glu65Gln)
c.37G>C (p.Glu13Gln)
Xg.135985695G=CA2460185466SLC9A6c.193G= (p.Glu65=)
c.37G= (p.Glu13=)
Xg.135985695G>TCA10524609SLC9A6c.193G>T (p.Glu65Ter)
c.37G>T (p.Glu13Ter)
 dbSNP ExAC
Xg.135985696A>CCA414606717SLC9A6c.194A>C (p.Glu65Ala)
c.38A>C (p.Glu13Ala)
Xg.135985696A>GCA414606718SLC9A6c.194A>G (p.Glu65Gly)
c.38A>G (p.Glu13Gly)
Xg.135985696A>TCA414606719SLC9A6c.194A>T (p.Glu65Val)
c.38A>T (p.Glu13Val)
Xg.135985697G>ACA518490635SLC9A6c.195G>A (p.Glu65=)
c.39G>A (p.Glu13=)
 dbSNP gnomAD v3 gnomAD v4
Xg.135985697G>CCA414606720SLC9A6c.195G>C (p.Glu65Asp)
c.39G>C (p.Glu13Asp)
Xg.135985697G=CA2460185467SLC9A6c.195G= (p.Glu65=)
c.39G= (p.Glu13=)
Xg.135985697G>TCA414606721SLC9A6c.195G>T (p.Glu65Asp)
c.39G>T (p.Glu13Asp)
Xg.135985698A>CCA414606722SLC9A6c.196A>C (p.Ser66Arg)
c.40A>C (p.Ser14Arg)
Xg.135985698A>GCA414606723SLC9A6c.196A>G (p.Ser66Gly)
c.40A>G (p.Ser14Gly)
Xg.135985698A>TCA414606724SLC9A6c.196A>T (p.Ser66Cys)
c.40A>T (p.Ser14Cys)
Xg.135985699G>ACA414606727SLC9A6c.197G>A (p.Ser66Asn)
c.41G>A (p.Ser14Asn)
Xg.135985699G>CCA414606726SLC9A6c.197G>C (p.Ser66Thr)
c.41G>C (p.Ser14Thr)
Xg.135985699G>TCA414606725SLC9A6c.197G>T (p.Ser66Ile)
c.41G>T (p.Ser14Ile)
Xg.135985700C>ACA414606728SLC9A6c.198C>A (p.Ser66Arg)
c.42C>A (p.Ser14Arg)
Xg.135985700C=CA2460185468SLC9A6c.198C= (p.Ser66=)
c.42C= (p.Ser14=)
Xg.135985700C>GCA414606729SLC9A6c.198C>G (p.Ser66Arg)
c.42C>G (p.Ser14Arg)
Xg.135985700C>TCA16608698SLC9A6c.198C>T (p.Ser66=)
c.42C>T (p.Ser14=)
 ClinVar dbSNP gnomAD v4
Xg.135985701C>ACA414606730SLC9A6c.199C>A (p.His67Asn)
c.43C>A (p.His15Asn)
Xg.135985701C>GCA414606731SLC9A6c.199C>G (p.His67Asp)
c.43C>G (p.His15Asp)
Xg.135985701C>TCA414606732SLC9A6c.199C>T (p.His67Tyr)
c.43C>T (p.His15Tyr)
Xg.135985702A>CCA414606733SLC9A6c.200A>C (p.His67Pro)
c.44A>C (p.His15Pro)
Xg.135985702A>GCA414606734SLC9A6c.200A>G (p.His67Arg)
c.44A>G (p.His15Arg)
Xg.135985702A>TCA414606735SLC9A6c.200A>T (p.His67Leu)
c.44A>T (p.His15Leu)
Xg.135985703C>ACA414606736SLC9A6c.201C>A (p.His67Gln)
c.45C>A (p.His15Gln)
Xg.135985703C>GCA414606737SLC9A6c.201C>G (p.His67Gln)
c.45C>G (p.His15Gln)
Xg.135985703C>TCA518490643SLC9A6c.201C>T (p.His67=)
c.45C>T (p.His15=)
 gnomAD v4
Xg.135985704C>ACA518490644SLC9A6c.202C>A (p.Arg68=)
c.46C>A (p.Arg16=)
Xg.135985704C>GCA414606738SLC9A6c.202C>G (p.Arg68Gly)
c.46C>G (p.Arg16Gly)
Xg.135985704C>TCA414606739SLC9A6c.202C>T (p.Arg68Trp)
c.46C>T (p.Arg16Trp)
 COSMIC
Xg.135985705G>ACA414606742SLC9A6c.203G>A (p.Arg68Gln)
c.47G>A (p.Arg16Gln)
Xg.135985705G>CCA414606740SLC9A6c.203G>C (p.Arg68Pro)
c.47G>C (p.Arg16Pro)
Xg.135985705G>TCA414606741SLC9A6c.203G>T (p.Arg68Leu)
c.47G>T (p.Arg16Leu)
Xg.135985706G>ACA518490648SLC9A6c.204G>A (p.Arg68=)
c.48G>A (p.Arg16=)
Xg.135985706G>CCA518490649SLC9A6c.204G>C (p.Arg68=)
c.48G>C (p.Arg16=)
 dbSNP
Xg.135985706G=CA2460185469SLC9A6c.204G= (p.Arg68=)
c.48G= (p.Arg16=)
Xg.135985706G>TCA518490650SLC9A6c.204G>T (p.Arg68=)
c.48G>T (p.Arg16=)
Xg.135985707C>ACA414606743SLC9A6c.205C>A (p.Gln69Lys)
c.49C>A (p.Gln17Lys)
Xg.135985707C>GCA414606744SLC9A6c.205C>G (p.Gln69Glu)
c.49C>G (p.Gln17Glu)
Xg.135985707C>TCA414606745SLC9A6c.205C>T (p.Gln69Ter)
c.49C>T (p.Gln17Ter)
Xg.135985708A>CCA414606746SLC9A6c.206A>C (p.Gln69Pro)
c.50A>C (p.Gln17Pro)
Xg.135985708A>GCA414606747SLC9A6c.206A>G (p.Gln69Arg)
c.50A>G (p.Gln17Arg)
 gnomAD v4
Xg.135985708A>TCA414606748SLC9A6c.206A>T (p.Gln69Leu)
c.50A>T (p.Gln17Leu)
Xg.135985709G>ACA518490653SLC9A6c.207G>A (p.Gln69=)
c.51G>A (p.Gln17=)
Xg.135985709G>CCA414606749SLC9A6c.207G>C (p.Gln69His)
c.51G>C (p.Gln17His)
Xg.135985709G>TCA414606750SLC9A6c.207G>T (p.Gln69His)
c.51G>T (p.Gln17His)
Xg.135985710G>ACA414606751SLC9A6c.208G>A (p.Asp70Asn)
c.52G>A (p.Asp18Asn)
Xg.135985710G>CCA414606752SLC9A6c.208G>C (p.Asp70His)
c.52G>C (p.Asp18His)
Xg.135985710G>TCA414606753SLC9A6c.208G>T (p.Asp70Tyr)
c.52G>T (p.Asp18Tyr)
Xg.135985711A=CA2460185470SLC9A6c.209A= (p.Asp70=)
c.53A= (p.Asp18=)
Xg.135985711A>CCA414606756SLC9A6c.209A>C (p.Asp70Ala)
c.53A>C (p.Asp18Ala)
Xg.135985711A>GCA414606755SLC9A6c.209A>G (p.Asp70Gly)
c.53A>G (p.Asp18Gly)
 dbSNP gnomAD v2
Xg.135985711A>TCA414606754SLC9A6c.209A>T (p.Asp70Val)
c.53A>T (p.Asp18Val)
Xg.135985712C>ACA414606757SLC9A6c.210C>A (p.Asp70Glu)
c.54C>A (p.Asp18Glu)
Xg.135985712C=CA2460185471SLC9A6c.210C= (p.Asp70=)
c.54C= (p.Asp18=)
Xg.135985712C>GCA414606758SLC9A6c.210C>G (p.Asp70Glu)
c.54C>G (p.Asp18Glu)
 gnomAD v4
Xg.135985712C>TCA518490660SLC9A6c.210C>T (p.Asp70=)
c.54C>T (p.Asp18=)
 ClinVar dbSNP
Xg.135985713A=CA2460185472SLC9A6c.211A= (p.Ser71=)
c.55A= (p.Ser19=)
Xg.135985713A>CCA414606759SLC9A6c.211A>C (p.Ser71Arg)
c.55A>C (p.Ser19Arg)
 dbSNP
Xg.135985713A>GCA414606761SLC9A6c.211A>G (p.Ser71Gly)
c.55A>G (p.Ser19Gly)
 ClinVar
Xg.135985713A>TCA414606760SLC9A6c.211A>T (p.Ser71Cys)
c.55A>T (p.Ser19Cys)
Xg.135985714G>ACA414606762SLC9A6c.212G>A (p.Ser71Asn)
c.56G>A (p.Ser19Asn)
Xg.135985714G>CCA414606763SLC9A6c.212G>C (p.Ser71Thr)
c.56G>C (p.Ser19Thr)
Xg.135985714G>TCA414606764SLC9A6c.212G>T (p.Ser71Ile)
c.56G>T (p.Ser19Ile)
Xg.135985715C>ACA414606765SLC9A6c.213C>A (p.Ser71Arg)
c.57C>A (p.Ser19Arg)
Xg.135985715C=CA2460185473SLC9A6c.213C= (p.Ser71=)
c.57C= (p.Ser19=)
Xg.135985715C>GCA414606766SLC9A6c.213C>G (p.Ser71Arg)
c.57C>G (p.Ser19Arg)
Xg.135985715C>TCA10524610SLC9A6c.213C>T (p.Ser71=)
c.57C>T (p.Ser19=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985716G>ACA414606767SLC9A6c.214G>A (p.Ala72Thr)
c.58G>A (p.Ala20Thr)
n.1G>A
c.1G>A (p.Ala1Thr)
Xg.135985716G>CCA414606768SLC9A6c.214G>C (p.Ala72Pro)
c.58G>C (p.Ala20Pro)
n.1G>C
c.1G>C (p.Ala1Pro)
Xg.135985716G>TCA414606769SLC9A6c.214G>T (p.Ala72Ser)
c.58G>T (p.Ala20Ser)
n.1G>T
c.1G>T (p.Ala1Ser)
 COSMIC COSMIC
Xg.135985717C>ACA414606770SLC9A6c.215C>A (p.Ala72Asp)
c.59C>A (p.Ala20Asp)
n.2C>A
c.2C>A (p.Ala1Asp)
Xg.135985717C>GCA414606771SLC9A6c.215C>G (p.Ala72Gly)
c.59C>G (p.Ala20Gly)
n.2C>G
c.2C>G (p.Ala1Gly)
Xg.135985717C>TCA414606772SLC9A6c.215C>T (p.Ala72Val)
c.59C>T (p.Ala20Val)
n.2C>T
c.2C>T (p.Ala1Val)
Xg.135985718C>ACA518490661SLC9A6c.216C>A (p.Ala72=)
c.60C>A (p.Ala20=)
n.3C>A
c.3C>A (p.Ala1=)
n.1C>A
Xg.135985718C>GCA518490662SLC9A6c.216C>G (p.Ala72=)
c.60C>G (p.Ala20=)
n.3C>G
c.3C>G (p.Ala1=)
n.1C>G
Xg.135985718C>TCA518490663SLC9A6c.216C>T (p.Ala72=)
c.60C>T (p.Ala20=)
n.3C>T
c.3C>T (p.Ala1=)
n.1C>T
 gnomAD v4
Xg.135985719A>CCA414606775SLC9A6c.217A>C (p.Asn73His)
c.61A>C (p.Asn21His)
n.4A>C
c.4A>C (p.Asn2His)
n.2A>C
Xg.135985719A>GCA414606773SLC9A6c.217A>G (p.Asn73Asp)
c.61A>G (p.Asn21Asp)
n.4A>G
c.4A>G (p.Asn2Asp)
n.2A>G
Xg.135985719A>TCA414606774SLC9A6c.217A>T (p.Asn73Tyr)
c.61A>T (p.Asn21Tyr)
n.4A>T
c.4A>T (p.Asn2Tyr)
n.2A>T
Xg.135985720A>CCA414606776SLC9A6c.218A>C (p.Asn73Thr)
c.62A>C (p.Asn21Thr)
n.5A>C
c.5A>C (p.Asn2Thr)
n.3A>C
 COSMIC COSMIC
Xg.135985720A>GCA414606777SLC9A6c.218A>G (p.Asn73Ser)
c.62A>G (p.Asn21Ser)
n.5A>G
c.5A>G (p.Asn2Ser)
n.3A>G
Xg.135985720A>TCA414606778SLC9A6c.218A>T (p.Asn73Ile)
c.62A>T (p.Asn21Ile)
n.5A>T
c.5A>T (p.Asn2Ile)
n.3A>T
Xg.135985721C>ACA414606779SLC9A6c.219C>A (p.Asn73Lys)
c.63C>A (p.Asn21Lys)
n.6C>A
c.6C>A (p.Asn2Lys)
n.4C>A
Xg.135985721C>GCA414606780SLC9A6c.219C>G (p.Asn73Lys)
c.63C>G (p.Asn21Lys)
n.6C>G
c.6C>G (p.Asn2Lys)
n.4C>G
Xg.135985721C>TCA518490664SLC9A6c.219C>T (p.Asn73=)
c.63C>T (p.Asn21=)
n.6C>T
c.6C>T (p.Asn2=)
n.4C>T
Xg.135985721_135985739delinsCCTGCTCATCTTCATCCTGCA2460185474SLC9A6c.219_237delinsCCTGCTCATCTTCATCCTG (p.Asn73=)
c.63_81delinsCCTGCTCATCTTCATCCTG (p.Asn21=)
n.6_24delinsCCTGCTCATCTTCATCCTG
c.6_24delinsCCTGCTCATCTTCATCCTG (p.Asn2=)
n.4_22delinsCCTGCTCATCTTCATCCTG
Xg.135985722C>ACA414606781SLC9A6c.220C>A (p.Leu74Met)
c.64C>A (p.Leu22Met)
n.7C>A
c.7C>A (p.Leu3Met)
n.5C>A
Xg.135985722C=CA2460185475SLC9A6c.220C= (p.Leu74=)
c.64C= (p.Leu22=)
n.7C=
c.7C= (p.Leu3=)
n.5C=
Xg.135985722C>GCA318550SLC9A6c.220C>G (p.Leu74Val)
c.64C>G (p.Leu22Val)
n.7C>G
c.7C>G (p.Leu3Val)
n.5C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985722C>TCA518490665SLC9A6c.220C>T (p.Leu74=)
c.64C>T (p.Leu22=)
n.7C>T
c.7C>T (p.Leu3=)
n.5C>T
Xg.135985729_135985746delCA915952375SLC9A6c.227_244del (p.Ile76_Leu81del)
c.71_88del (p.Ile24_Leu29del)
n.14_31del
c.14_31del (p.Ile5_Leu10del)
n.12_29del
 ClinVar dbSNP
Xg.135985723T>ACA414606782SLC9A6c.221T>A (p.Leu74Gln)
c.65T>A (p.Leu22Gln)
n.8T>A
c.8T>A (p.Leu3Gln)
n.6T>A
Xg.135985723T>CCA414606783SLC9A6c.221T>C (p.Leu74Pro)
c.65T>C (p.Leu22Pro)
n.8T>C
c.8T>C (p.Leu3Pro)
n.6T>C
Xg.135985723T>GCA414606784SLC9A6c.221T>G (p.Leu74Arg)
c.65T>G (p.Leu22Arg)
n.8T>G
c.8T>G (p.Leu3Arg)
n.6T>G
Xg.135985724G>ACA518490666SLC9A6c.222G>A (p.Leu74=)
c.66G>A (p.Leu22=)
n.9G>A
c.9G>A (p.Leu3=)
n.7G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985724G>CCA518490667SLC9A6c.222G>C (p.Leu74=)
c.66G>C (p.Leu22=)
n.9G>C
c.9G>C (p.Leu3=)
n.7G>C
 gnomAD v4
Xg.135985724G=CA2460185476SLC9A6c.222G= (p.Leu74=)
c.66G= (p.Leu22=)
n.9G=
c.9G= (p.Leu3=)
n.7G=
Xg.135985724G>TCA518490668SLC9A6c.222G>T (p.Leu74=)
c.66G>T (p.Leu22=)
n.9G>T
c.9G>T (p.Leu3=)
n.7G>T
Xg.135985725C>ACA414606786SLC9A6c.223C>A (p.Leu75Ile)
c.67C>A (p.Leu23Ile)
n.10C>A
c.10C>A (p.Leu4Ile)
n.8C>A
Xg.135985725C=CA2460185477SLC9A6c.223C= (p.Leu75=)
c.67C= (p.Leu23=)
n.10C=
c.10C= (p.Leu4=)
n.8C=
Xg.135985725C>GCA336084467SLC9A6c.223C>G (p.Leu75Val)
c.67C>G (p.Leu23Val)
n.10C>G
c.10C>G (p.Leu4Val)
n.8C>G
 ClinVar dbSNP gnomAD v4
Xg.135985725C>TCA414606785SLC9A6c.223C>T (p.Leu75Phe)
c.67C>T (p.Leu23Phe)
n.10C>T
c.10C>T (p.Leu4Phe)
n.8C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.135985726T>ACA414606787SLC9A6c.224T>A (p.Leu75His)
c.68T>A (p.Leu23His)
n.11T>A
c.11T>A (p.Leu4His)
n.9T>A
Xg.135985726T>CCA414606788SLC9A6c.224T>C (p.Leu75Pro)
c.68T>C (p.Leu23Pro)
n.11T>C
c.11T>C (p.Leu4Pro)
n.9T>C
Xg.135985726T>GCA414606789SLC9A6c.224T>G (p.Leu75Arg)
c.68T>G (p.Leu23Arg)
n.11T>G
c.11T>G (p.Leu4Arg)
n.9T>G
Xg.135985727C>ACA518490669SLC9A6c.225C>A (p.Leu75=)
c.69C>A (p.Leu23=)
n.12C>A
c.12C>A (p.Leu4=)
n.10C>A
Xg.135985727C=CA2460185478SLC9A6c.225C= (p.Leu75=)
c.69C= (p.Leu23=)
n.12C=
c.12C= (p.Leu4=)
n.10C=
Xg.135985727C>GCA518490670SLC9A6c.225C>G (p.Leu75=)
c.69C>G (p.Leu23=)
n.12C>G
c.12C>G (p.Leu4=)
n.10C>G
Xg.135985727C>TCA518490671SLC9A6c.225C>T (p.Leu75=)
c.69C>T (p.Leu23=)
n.12C>T
c.12C>T (p.Leu4=)
n.10C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.135985728A>CCA414606790SLC9A6c.226A>C (p.Ile76Leu)
c.70A>C (p.Ile24Leu)
n.13A>C
c.13A>C (p.Ile5Leu)
n.11A>C
Xg.135985728A>GCA414606791SLC9A6c.226A>G (p.Ile76Val)
c.70A>G (p.Ile24Val)
n.13A>G
c.13A>G (p.Ile5Val)
n.11A>G
 gnomAD v4
Xg.135985728A>TCA414606792SLC9A6c.226A>T (p.Ile76Phe)
c.70A>T (p.Ile24Phe)
n.13A>T
c.13A>T (p.Ile5Phe)
n.11A>T
Xg.135985729T>ACA414606793SLC9A6c.227T>A (p.Ile76Asn)
c.71T>A (p.Ile24Asn)
n.14T>A
c.14T>A (p.Ile5Asn)
n.12T>A
Xg.135985729T>CCA414606794SLC9A6c.227T>C (p.Ile76Thr)
c.71T>C (p.Ile24Thr)
n.14T>C
c.14T>C (p.Ile5Thr)
n.12T>C
Xg.135985729T>GCA414606795SLC9A6c.227T>G (p.Ile76Ser)
c.71T>G (p.Ile24Ser)
n.14T>G
c.14T>G (p.Ile5Ser)
n.12T>G
Xg.135985730C>ACA518490673SLC9A6c.228C>A (p.Ile76=)
c.72C>A (p.Ile24=)
n.15C>A
c.15C>A (p.Ile5=)
n.13C>A
Xg.135985730C>GCA414606796SLC9A6c.228C>G (p.Ile76Met)
c.72C>G (p.Ile24Met)
n.15C>G
c.15C>G (p.Ile5Met)
n.13C>G
Xg.135985730C>TCA518490672SLC9A6c.228C>T (p.Ile76=)
c.72C>T (p.Ile24=)
n.15C>T
c.15C>T (p.Ile5=)
n.13C>T
 gnomAD v4
Xg.135985731T>ACA414606797SLC9A6c.229T>A (p.Phe77Ile)
c.73T>A (p.Phe25Ile)
n.16T>A
c.16T>A (p.Phe6Ile)
n.14T>A
 COSMIC COSMIC
Xg.135985731T>CCA414606798SLC9A6c.229T>C (p.Phe77Leu)
c.73T>C (p.Phe25Leu)
n.16T>C
c.16T>C (p.Phe6Leu)
n.14T>C
Xg.135985731T>GCA414606799SLC9A6c.229T>G (p.Phe77Val)
c.73T>G (p.Phe25Val)
n.16T>G
c.16T>G (p.Phe6Val)
n.14T>G
Xg.135985732T>ACA414606800SLC9A6c.230T>A (p.Phe77Tyr)
c.74T>A (p.Phe25Tyr)
n.17T>A
c.17T>A (p.Phe6Tyr)
n.15T>A
Xg.135985732T>CCA414606802SLC9A6c.230T>C (p.Phe77Ser)
c.74T>C (p.Phe25Ser)
n.17T>C
c.17T>C (p.Phe6Ser)
n.15T>C
Xg.135985732T>GCA414606801SLC9A6c.230T>G (p.Phe77Cys)
c.74T>G (p.Phe25Cys)
n.17T>G
c.17T>G (p.Phe6Cys)
n.15T>G
Xg.135985733C>ACA414606803SLC9A6c.231C>A (p.Phe77Leu)
c.75C>A (p.Phe25Leu)
n.18C>A
c.18C>A (p.Phe6Leu)
n.16C>A
Xg.135985733C=CA2460185479SLC9A6c.231C= (p.Phe77=)
c.75C= (p.Phe25=)
n.18C=
c.18C= (p.Phe6=)
n.16C=
Xg.135985733C>GCA414606804SLC9A6c.231C>G (p.Phe77Leu)
c.75C>G (p.Phe25Leu)
n.18C>G
c.18C>G (p.Phe6Leu)
n.16C>G
Xg.135985733C>TCA336084468SLC9A6c.231C>T (p.Phe77=)
c.75C>T (p.Phe25=)
n.18C>T
c.18C>T (p.Phe6=)
n.16C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985734A>CCA414606805SLC9A6c.232A>C (p.Ile78Leu)
c.76A>C (p.Ile26Leu)
n.19A>C
c.19A>C (p.Ile7Leu)
n.17A>C
Xg.135985734A>GCA414606806SLC9A6c.232A>G (p.Ile78Val)
c.76A>G (p.Ile26Val)
n.19A>G
c.19A>G (p.Ile7Val)
n.17A>G
 ClinVar dbSNP
Xg.135985734A>TCA414606807SLC9A6c.232A>T (p.Ile78Phe)
c.76A>T (p.Ile26Phe)
n.19A>T
c.19A>T (p.Ile7Phe)
n.17A>T
Xg.135985735T>ACA414606808SLC9A6c.233T>A (p.Ile78Asn)
c.77T>A (p.Ile26Asn)
n.20T>A
c.20T>A (p.Ile7Asn)
n.18T>A
Xg.135985735T>CCA414606809SLC9A6c.233T>C (p.Ile78Thr)
c.77T>C (p.Ile26Thr)
n.20T>C
c.20T>C (p.Ile7Thr)
n.18T>C
Xg.135985735T>GCA414606810SLC9A6c.233T>G (p.Ile78Ser)
c.77T>G (p.Ile26Ser)
n.20T>G
c.20T>G (p.Ile7Ser)
n.18T>G
Xg.135985736C>ACA518490674SLC9A6c.234C>A (p.Ile78=)
c.78C>A (p.Ile26=)
n.21C>A
c.21C>A (p.Ile7=)
n.19C>A
 dbSNP
Xg.135985736C=CA2460185480SLC9A6c.234C= (p.Ile78=)
c.78C= (p.Ile26=)
n.21C=
c.21C= (p.Ile7=)
n.19C=
Xg.135985736C>GCA414606811SLC9A6c.234C>G (p.Ile78Met)
c.78C>G (p.Ile26Met)
n.21C>G
c.21C>G (p.Ile7Met)
n.19C>G
Xg.135985736C>TCA518490675SLC9A6c.234C>T (p.Ile78=)
c.78C>T (p.Ile26=)
n.21C>T
c.21C>T (p.Ile7=)
n.19C>T
 ClinVar gnomAD v4
Xg.135985737C>ACA414606812SLC9A6c.235C>A (p.Leu79Met)
c.79C>A (p.Leu27Met)
n.22C>A
c.22C>A (p.Leu8Met)
n.20C>A
Xg.135985737C=CA2460185481SLC9A6c.235C= (p.Leu79=)
c.79C= (p.Leu27=)
n.22C=
c.22C= (p.Leu8=)
n.20C=
Xg.135985737C>GCA414606813SLC9A6c.235C>G (p.Leu79Val)
c.79C>G (p.Leu27Val)
n.22C>G
c.22C>G (p.Leu8Val)
n.20C>G
Xg.135985737C>TCA518490676SLC9A6c.235C>T (p.Leu79=)
c.79C>T (p.Leu27=)
n.22C>T
c.22C>T (p.Leu8=)
n.20C>T
 dbSNP
Xg.135985738T>ACA414606815SLC9A6c.236T>A (p.Leu79Gln)
c.80T>A (p.Leu27Gln)
n.23T>A
c.23T>A (p.Leu8Gln)
n.21T>A
Xg.135985738T>CCA414606816SLC9A6c.236T>C (p.Leu79Pro)
c.80T>C (p.Leu27Pro)
n.23T>C
c.23T>C (p.Leu8Pro)
n.21T>C
Xg.135985738T>GCA414606814SLC9A6c.236T>G (p.Leu79Arg)
c.80T>G (p.Leu27Arg)
n.23T>G
c.23T>G (p.Leu8Arg)
n.21T>G
Xg.135985739G>ACA518490677SLC9A6c.237G>A (p.Leu79=)
c.81G>A (p.Leu27=)
n.24G>A
c.24G>A (p.Leu8=)
n.22G>A
 ClinVar dbSNP gnomAD v4
Xg.135985739G>CCA518490678SLC9A6c.237G>C (p.Leu79=)
c.81G>C (p.Leu27=)
n.24G>C
c.24G>C (p.Leu8=)
n.22G>C
Xg.135985739G=CA2460185482SLC9A6c.237G= (p.Leu79=)
c.81G= (p.Leu27=)
n.24G=
c.24G= (p.Leu8=)
n.22G=
Xg.135985739G>TCA518490679SLC9A6c.237G>T (p.Leu79=)
c.81G>T (p.Leu27=)
n.24G>T
c.24G>T (p.Leu8=)
n.22G>T
Xg.135985740C>ACA414606817SLC9A6c.238C>A (p.Leu80Met)
c.82C>A (p.Leu28Met)
n.25C>A
c.25C>A (p.Leu9Met)
n.23C>A
Xg.135985740C=CA2460185483SLC9A6c.238C= (p.Leu80=)
c.82C= (p.Leu28=)
n.25C=
c.25C= (p.Leu9=)
n.23C=
Xg.135985740C>GCA414606818SLC9A6c.238C>G (p.Leu80Val)
c.82C>G (p.Leu28Val)
n.25C>G
c.25C>G (p.Leu9Val)
n.23C>G
Xg.135985740C>TCA10524611SLC9A6c.238C>T (p.Leu80=)
c.82C>T (p.Leu28=)
n.25C>T
c.25C>T (p.Leu9=)
n.23C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.135985741T>ACA414606819SLC9A6c.239T>A (p.Leu80Gln)
c.83T>A (p.Leu28Gln)
n.26T>A
c.26T>A (p.Leu9Gln)
n.24T>A
Xg.135985741T>CCA414606820SLC9A6c.239T>C (p.Leu80Pro)
c.83T>C (p.Leu28Pro)
n.26T>C
c.26T>C (p.Leu9Pro)
n.24T>C
Xg.135985741T>GCA414606821SLC9A6c.239T>G (p.Leu80Arg)
c.83T>G (p.Leu28Arg)
n.26T>G
c.26T>G (p.Leu9Arg)
n.24T>G
Xg.135985742G>ACA518490680SLC9A6c.240G>A (p.Leu80=)
c.84G>A (p.Leu28=)
n.27G>A
c.27G>A (p.Leu9=)
n.25G>A
Xg.135985742G>CCA518490682SLC9A6c.240G>C (p.Leu80=)
c.84G>C (p.Leu28=)
n.27G>C
c.27G>C (p.Leu9=)
n.25G>C
Xg.135985742G>TCA518490681SLC9A6c.240G>T (p.Leu80=)
c.84G>T (p.Leu28=)
n.27G>T
c.27G>T (p.Leu9=)
n.25G>T
 COSMIC COSMIC
Xg.135985743C>ACA414606824SLC9A6c.241C>A (p.Leu81Ile)
c.85C>A (p.Leu29Ile)
n.28C>A
c.28C>A (p.Leu10Ile)
n.26C>A
Xg.135985743C>GCA414606822SLC9A6c.241C>G (p.Leu81Val)
c.85C>G (p.Leu29Val)
n.28C>G
c.28C>G (p.Leu10Val)
n.26C>G
Xg.135985743C>TCA414606823SLC9A6c.241C>T (p.Leu81Phe)
c.85C>T (p.Leu29Phe)
n.28C>T
c.28C>T (p.Leu10Phe)
n.26C>T
Xg.135985744T>ACA414606825SLC9A6c.242T>A (p.Leu81His)
c.86T>A (p.Leu29His)
n.29T>A
c.29T>A (p.Leu10His)
n.27T>A
Xg.135985744T>CCA414606826SLC9A6c.242T>C (p.Leu81Pro)
c.86T>C (p.Leu29Pro)
n.29T>C
c.29T>C (p.Leu10Pro)
n.27T>C
Xg.135985744T>GCA414606827SLC9A6c.242T>G (p.Leu81Arg)
c.86T>G (p.Leu29Arg)
n.29T>G
c.29T>G (p.Leu10Arg)
n.27T>G
Xg.135985745C>ACA518490683SLC9A6c.243C>A (p.Leu81=)
c.87C>A (p.Leu29=)
n.30C>A
c.30C>A (p.Leu10=)
n.28C>A
Xg.135985745C>GCA518490684SLC9A6c.243C>G (p.Leu81=)
c.87C>G (p.Leu29=)
n.30C>G
c.30C>G (p.Leu10=)
n.28C>G
Xg.135985745C>TCA518490685SLC9A6c.243C>T (p.Leu81=)
c.87C>T (p.Leu29=)
n.30C>T
c.30C>T (p.Leu10=)
n.28C>T
Xg.135985746A>CCA414606828SLC9A6c.244A>C (p.Thr82Pro)
c.88A>C (p.Thr30Pro)
n.31A>C
c.31A>C (p.Thr11Pro)
n.29A>C
Xg.135985746A>GCA414606829SLC9A6c.244A>G (p.Thr82Ala)
c.88A>G (p.Thr30Ala)
n.31A>G
c.31A>G (p.Thr11Ala)
n.29A>G
Xg.135985746A>TCA414606830SLC9A6c.244A>T (p.Thr82Ser)
c.88A>T (p.Thr30Ser)
n.31A>T
c.31A>T (p.Thr11Ser)
n.29A>T
Xg.135985747C>ACA414606831SLC9A6c.245C>A (p.Thr82Asn)
c.89C>A (p.Thr30Asn)
n.32C>A
c.32C>A (p.Thr11Asn)
n.30C>A
Xg.135985747C>GCA414606833SLC9A6c.245C>G (p.Thr82Ser)
c.89C>G (p.Thr30Ser)
n.32C>G
c.32C>G (p.Thr11Ser)
n.30C>G
Xg.135985747C>TCA414606832SLC9A6c.245C>T (p.Thr82Ile)
c.89C>T (p.Thr30Ile)
n.32C>T
c.32C>T (p.Thr11Ile)
n.30C>T
 COSMIC COSMIC
Xg.135985748C>ACA10524612SLC9A6c.246C>A (p.Thr82=)
c.90C>A (p.Thr30=)
n.33C>A
c.33C>A (p.Thr11=)
n.31C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985748C=CA2460185484SLC9A6c.246C= (p.Thr82=)
c.90C= (p.Thr30=)
n.33C=
c.33C= (p.Thr11=)
n.31C=
Xg.135985748C>GCA518490686SLC9A6c.246C>G (p.Thr82=)
c.90C>G (p.Thr30=)
n.33C>G
c.33C>G (p.Thr11=)
n.31C>G
Xg.135985748C>TCA10524613SLC9A6c.246C>T (p.Thr82=)
c.90C>T (p.Thr30=)
n.33C>T
c.33C>T (p.Thr11=)
n.31C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.135985749C>ACA414606834SLC9A6c.247C>A (p.Leu83Ile)
c.91C>A (p.Leu31Ile)
n.34C>A
c.34C>A (p.Leu12Ile)
n.32C>A
Xg.135985749C=CA2460185485SLC9A6c.247C= (p.Leu83=)
c.91C= (p.Leu31=)
n.34C=
c.34C= (p.Leu12=)
n.32C=
Xg.135985749C>GCA10524614SLC9A6c.247C>G (p.Leu83Val)
c.91C>G (p.Leu31Val)
n.34C>G
c.34C>G (p.Leu12Val)
n.32C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.135985749C>TCA414606835SLC9A6c.247C>T (p.Leu83Phe)
c.91C>T (p.Leu31Phe)
n.34C>T
c.34C>T (p.Leu12Phe)
n.32C>T
Xg.135985750T>ACA414606836SLC9A6c.248T>A (p.Leu83His)
c.92T>A (p.Leu31His)
n.35T>A
c.35T>A (p.Leu12His)
n.33T>A
Xg.135985750T>CCA414606837SLC9A6c.248T>C (p.Leu83Pro)
c.92T>C (p.Leu31Pro)
n.35T>C
c.35T>C (p.Leu12Pro)
n.33T>C
Xg.135985750T>GCA414606838SLC9A6c.248T>G (p.Leu83Arg)
c.92T>G (p.Leu31Arg)
n.35T>G
c.35T>G (p.Leu12Arg)
n.33T>G
Xg.135985751C>ACA518490688SLC9A6c.249C>A (p.Leu83=)
c.93C>A (p.Leu31=)
n.36C>A
c.36C>A (p.Leu12=)
n.34C>A
Xg.135985751C=CA2460185486SLC9A6c.249C= (p.Leu83=)
c.93C= (p.Leu31=)
n.36C=
c.36C= (p.Leu12=)
n.34C=
Xg.135985751C>GCA518490687SLC9A6c.249C>G (p.Leu83=)
c.93C>G (p.Leu31=)
n.36C>G
c.36C>G (p.Leu12=)
n.34C>G
Xg.135985751C>TCA10524615SLC9A6c.249C>T (p.Leu83=)
c.93C>T (p.Leu31=)
n.36C>T
c.36C>T (p.Leu12=)
n.34C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.135985752A>CCA414606839SLC9A6c.250A>C (p.Thr84Pro)
c.94A>C (p.Thr32Pro)
n.37A>C
c.37A>C (p.Thr13Pro)
n.35A>C
Xg.135985752A>GCA414606840SLC9A6c.250A>G (p.Thr84Ala)
c.94A>G (p.Thr32Ala)
n.37A>G
c.37A>G (p.Thr13Ala)
n.35A>G
Xg.135985752A>TCA414606841SLC9A6c.250A>T (p.Thr84Ser)
c.94A>T (p.Thr32Ser)
n.37A>T
c.37A>T (p.Thr13Ser)
n.35A>T
Xg.135985753C>ACA414606842SLC9A6c.251C>A (p.Thr84Asn)
c.95C>A (p.Thr32Asn)
n.38C>A
c.38C>A (p.Thr13Asn)
n.36C>A
Xg.135985753C=CA2460185487SLC9A6c.251C= (p.Thr84=)
c.95C= (p.Thr32=)
n.38C=
c.38C= (p.Thr13=)
n.36C=
Xg.135985753C>GCA414606844SLC9A6c.251C>G (p.Thr84Ser)
c.95C>G (p.Thr32Ser)
n.38C>G
c.38C>G (p.Thr13Ser)
n.36C>G
Xg.135985753C>TCA414606843SLC9A6c.251C>T (p.Thr84Ile)
c.95C>T (p.Thr32Ile)
n.38C>T
c.38C>T (p.Thr13Ile)
n.36C>T
 dbSNP
Xg.135985754C>ACA518490689SLC9A6c.252C>A (p.Thr84=)
c.96C>A (p.Thr32=)
n.39C>A
c.39C>A (p.Thr13=)
n.37C>A
Xg.135985754C>GCA518490690SLC9A6c.252C>G (p.Thr84=)
c.96C>G (p.Thr32=)
n.39C>G
c.39C>G (p.Thr13=)
n.37C>G
Xg.135985754C>TCA518490691SLC9A6c.252C>T (p.Thr84=)
c.96C>T (p.Thr32=)
n.39C>T
c.39C>T (p.Thr13=)
n.37C>T
 gnomAD v4
Xg.135985755A>CCA414606845SLC9A6c.253A>C (p.Ile85Leu)
c.97A>C (p.Ile33Leu)
n.40A>C
c.40A>C (p.Ile14Leu)
n.38A>C
Xg.135985755A>GCA414606846SLC9A6c.253A>G (p.Ile85Val)
c.97A>G (p.Ile33Val)
n.40A>G
c.40A>G (p.Ile14Val)
n.38A>G
Xg.135985755A>TCA414606847SLC9A6c.253A>T (p.Ile85Phe)
c.97A>T (p.Ile33Phe)
n.40A>T
c.40A>T (p.Ile14Phe)
n.38A>T
Xg.135985756T>ACA414606848SLC9A6c.254T>A (p.Ile85Asn)
c.98T>A (p.Ile33Asn)
n.41T>A
c.41T>A (p.Ile14Asn)
n.39T>A
Xg.135985756T>CCA414606849SLC9A6c.254T>C (p.Ile85Thr)
c.98T>C (p.Ile33Thr)
n.41T>C
c.41T>C (p.Ile14Thr)
n.39T>C
Xg.135985756T>GCA414606850SLC9A6c.254T>G (p.Ile85Ser)
c.98T>G (p.Ile33Ser)
n.41T>G
c.41T>G (p.Ile14Ser)
n.39T>G
Xg.135985757T>ACA518490692SLC9A6c.255T>A (p.Ile85=)
c.99T>A (p.Ile33=)
n.42T>A
c.42T>A (p.Ile14=)
n.40T>A
Xg.135985757T>CCA518490693SLC9A6c.255T>C (p.Ile85=)
c.99T>C (p.Ile33=)
n.42T>C
c.42T>C (p.Ile14=)
n.40T>C
Xg.135985757T>GCA414606851SLC9A6c.255T>G (p.Ile85Met)
c.99T>G (p.Ile33Met)
n.42T>G
c.42T>G (p.Ile14Met)
n.40T>G
 COSMIC
Xg.135985758C>ACA414606852SLC9A6c.256C>A (p.Leu86Ile)
c.100C>A (p.Leu34Ile)
n.43C>A
c.43C>A (p.Leu15Ile)
n.41C>A
Xg.135985758C=CA2460185488SLC9A6c.256C= (p.Leu86=)
c.100C= (p.Leu34=)
n.43C=
c.43C= (p.Leu15=)
n.41C=
Xg.135985758C>GCA414606853SLC9A6c.256C>G (p.Leu86Val)
c.100C>G (p.Leu34Val)
n.43C>G
c.43C>G (p.Leu15Val)
n.41C>G
Xg.135985758C>TCA414606854SLC9A6c.256C>T (p.Leu86Phe)
c.100C>T (p.Leu34Phe)
n.43C>T
c.43C>T (p.Leu15Phe)
n.41C>T
 dbSNP
Xg.135985759T>ACA414606855SLC9A6c.257T>A (p.Leu86His)
c.101T>A (p.Leu34His)
n.44T>A
c.44T>A (p.Leu15His)
n.42T>A
Xg.135985759T>CCA414606856SLC9A6c.257T>C (p.Leu86Pro)
c.101T>C (p.Leu34Pro)
n.44T>C
c.44T>C (p.Leu15Pro)
n.42T>C
Xg.135985759T>GCA414606857SLC9A6c.257T>G (p.Leu86Arg)
c.101T>G (p.Leu34Arg)
n.44T>G
c.44T>G (p.Leu15Arg)
n.42T>G
Xg.135985760C>ACA518490694SLC9A6c.258C>A (p.Leu86=)
c.102C>A (p.Leu34=)
n.45C>A
c.45C>A (p.Leu15=)
n.43C>A
Xg.135985760C>GCA518490695SLC9A6c.258C>G (p.Leu86=)
c.102C>G (p.Leu34=)
n.45C>G
c.45C>G (p.Leu15=)
n.43C>G
Xg.135985760C>TCA518490696SLC9A6c.258C>T (p.Leu86=)
c.102C>T (p.Leu34=)
n.45C>T
c.45C>T (p.Leu15=)
n.43C>T
Xg.135985761A>CCA414606860SLC9A6c.259A>C (p.Thr87Pro)
c.103A>C (p.Thr35Pro)
n.46A>C
c.46A>C (p.Thr16Pro)
n.44A>C
 gnomAD v4
Xg.135985761A>GCA414606858SLC9A6c.259A>G (p.Thr87Ala)
c.103A>G (p.Thr35Ala)
n.46A>G
c.46A>G (p.Thr16Ala)
n.44A>G
 dbSNP gnomAD v4
Xg.135985761A>TCA414606859SLC9A6c.259A>T (p.Thr87Ser)
c.103A>T (p.Thr35Ser)
n.46A>T
c.46A>T (p.Thr16Ser)
n.44A>T
Xg.135985762C>ACA414606861SLC9A6c.260C>A (p.Thr87Lys)
c.104C>A (p.Thr35Lys)
n.47C>A
c.47C>A (p.Thr16Lys)
n.45C>A
Xg.135985762C>GCA414606862SLC9A6c.260C>G (p.Thr87Arg)
c.104C>G (p.Thr35Arg)
n.47C>G
c.47C>G (p.Thr16Arg)
n.45C>G
Xg.135985762C>TCA414606863SLC9A6c.260C>T (p.Thr87Ile)
c.104C>T (p.Thr35Ile)
n.47C>T
c.47C>T (p.Thr16Ile)
n.45C>T
Xg.135985763A=CA2460185489SLC9A6c.261A= (p.Thr87=)
c.105A= (p.Thr35=)
n.48A=
c.48A= (p.Thr16=)
n.46A=
Xg.135985763A>CCA518490697SLC9A6c.261A>C (p.Thr87=)
c.105A>C (p.Thr35=)
n.48A>C
c.48A>C (p.Thr16=)
n.46A>C
Xg.135985763A>GCA518490698SLC9A6c.261A>G (p.Thr87=)
c.105A>G (p.Thr35=)
n.48A>G
c.48A>G (p.Thr16=)
n.46A>G
Xg.135985763A>TCA10524616SLC9A6c.261A>T (p.Thr87=)
c.105A>T (p.Thr35=)
n.48A>T
c.48A>T (p.Thr16=)
n.46A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.135985764A=CA2460185490SLC9A6c.262A= (p.Ile88=)
c.106A= (p.Ile36=)
n.49A=
c.49A= (p.Ile17=)
n.47A=
Xg.135985764A>CCA414606864SLC9A6c.262A>C (p.Ile88Leu)
c.106A>C (p.Ile36Leu)
n.49A>C
c.49A>C (p.Ile17Leu)
n.47A>C
 dbSNP gnomAD v3 gnomAD v4
Xg.135985764A>GCA414606865SLC9A6c.262A>G (p.Ile88Val)
c.106A>G (p.Ile36Val)
n.49A>G
c.49A>G (p.Ile17Val)
n.47A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.135985764A>TCA414606866SLC9A6c.262A>T (p.Ile88Phe)
c.106A>T (p.Ile36Phe)
n.49A>T
c.49A>T (p.Ile17Phe)
n.47A>T
Xg.135985765T>ACA414606867SLC9A6c.263T>A (p.Ile88Asn)
c.107T>A (p.Ile36Asn)
n.50T>A
c.50T>A (p.Ile17Asn)
n.48T>A
Xg.135985765T>CCA414606868SLC9A6c.263T>C (p.Ile88Thr)
c.107T>C (p.Ile36Thr)
n.50T>C
c.50T>C (p.Ile17Thr)
n.48T>C
Xg.135985765T>GCA414606869SLC9A6c.263T>G (p.Ile88Ser)
c.107T>G (p.Ile36Ser)
n.50T>G
c.50T>G (p.Ile17Ser)
n.48T>G
Xg.135985766C>ACA518490699SLC9A6c.264C>A (p.Ile88=)
c.108C>A (p.Ile36=)
n.51C>A
c.51C>A (p.Ile17=)
n.49C>A
Xg.135985766C>GCA414606870SLC9A6c.264C>G (p.Ile88Met)
c.108C>G (p.Ile36Met)
n.51C>G
c.51C>G (p.Ile17Met)
n.49C>G
 COSMIC
Xg.135985766C>TCA518490700SLC9A6c.264C>T (p.Ile88=)
c.108C>T (p.Ile36=)
n.51C>T
c.51C>T (p.Ile17=)
n.49C>T
Xg.135985767T>ACA414606873SLC9A6c.265T>A (p.Trp89Arg)
c.109T>A (p.Trp37Arg)
n.52T>A
c.52T>A (p.Trp18Arg)
n.50T>A
Xg.135985767T>CCA414606872SLC9A6c.265T>C (p.Trp89Arg)
c.109T>C (p.Trp37Arg)
n.52T>C
c.52T>C (p.Trp18Arg)
n.50T>C
Xg.135985767T>GCA414606871SLC9A6c.265T>G (p.Trp89Gly)
c.109T>G (p.Trp37Gly)
n.52T>G
c.52T>G (p.Trp18Gly)
n.50T>G
Xg.135985768G>ACA414606874SLC9A6c.266G>A (p.Trp89Ter)
c.110G>A (p.Trp37Ter)
n.53G>A
c.53G>A (p.Trp18Ter)
n.51G>A
Xg.135985768G>CCA414606876SLC9A6c.266G>C (p.Trp89Ser)
c.110G>C (p.Trp37Ser)
n.53G>C
c.53G>C (p.Trp18Ser)
n.51G>C
Xg.135985768G>TCA414606875SLC9A6c.266G>T (p.Trp89Leu)
c.110G>T (p.Trp37Leu)
n.53G>T
c.53G>T (p.Trp18Leu)
n.51G>T
Xg.135985769G>ACA414606877SLC9A6c.267G>A (p.Trp89Ter)
c.111G>A (p.Trp37Ter)
n.54G>A
c.54G>A (p.Trp18Ter)
n.52G>A
Xg.135985769G>CCA414606879SLC9A6c.267G>C (p.Trp89Cys)
c.111G>C (p.Trp37Cys)
n.54G>C
c.54G>C (p.Trp18Cys)
n.52G>C
Xg.135985769G>TCA414606878SLC9A6c.267G>T (p.Trp89Cys)
c.111G>T (p.Trp37Cys)
n.54G>T
c.54G>T (p.Trp18Cys)
n.52G>T
 dbSNP
Xg.135985770C>ACA414606880SLC9A6c.268C>A (p.Leu90Ile)
c.112C>A (p.Leu38Ile)
n.55C>A
c.55C>A (p.Leu19Ile)
n.53C>A
 COSMIC
Xg.135985770C>GCA414606882SLC9A6c.268C>G (p.Leu90Val)
c.112C>G (p.Leu38Val)
n.55C>G
c.55C>G (p.Leu19Val)
n.53C>G
Xg.135985770C>TCA414606881SLC9A6c.268C>T (p.Leu90Phe)
c.112C>T (p.Leu38Phe)
n.55C>T
c.55C>T (p.Leu19Phe)
n.53C>T
Xg.135985771T>ACA414606883SLC9A6c.269T>A (p.Leu90His)
c.113T>A (p.Leu38His)
n.56T>A
c.56T>A (p.Leu19His)
n.54T>A
Xg.135985771T>CCA414606885SLC9A6c.269T>C (p.Leu90Pro)
c.113T>C (p.Leu38Pro)
n.56T>C
c.56T>C (p.Leu19Pro)
n.54T>C
 ClinVar dbSNP
Xg.135985771T>GCA414606884SLC9A6c.269T>G (p.Leu90Arg)
c.113T>G (p.Leu38Arg)
n.56T>G
c.56T>G (p.Leu19Arg)
n.54T>G
Xg.135985771T=CA2460185491SLC9A6c.269T= (p.Leu90=)
c.113T= (p.Leu38=)
n.56T=
c.56T= (p.Leu19=)
n.54T=
Xg.135985772C>ACA518490703SLC9A6c.270C>A (p.Leu90=)
c.114C>A (p.Leu38=)
n.57C>A
c.57C>A (p.Leu19=)
n.55C>A
Xg.135985772C=CA2460185492SLC9A6c.270C= (p.Leu90=)
c.114C= (p.Leu38=)
n.57C=
c.57C= (p.Leu19=)
n.55C=
Xg.135985772C>GCA518490702SLC9A6c.270C>G (p.Leu90=)
c.114C>G (p.Leu38=)
n.57C>G
c.57C>G (p.Leu19=)
n.55C>G
Xg.135985772C>TCA518490701SLC9A6c.270C>T (p.Leu90=)
c.114C>T (p.Leu38=)
n.57C>T
c.57C>T (p.Leu19=)
n.55C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.135985773T>ACA414606886SLC9A6c.271T>A (p.Phe91Ile)
c.115T>A (p.Phe39Ile)
n.58T>A
c.58T>A (p.Phe20Ile)
n.56T>A
Xg.135985773T>CCA414606887SLC9A6c.271T>C (p.Phe91Leu)
c.115T>C (p.Phe39Leu)
n.58T>C
c.58T>C (p.Phe20Leu)
n.56T>C
Xg.135985773T>GCA414606888SLC9A6c.271T>G (p.Phe91Val)
c.115T>G (p.Phe39Val)
n.58T>G
c.58T>G (p.Phe20Val)
n.56T>G

Number of alleles fetched