Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.149978000G>ACA447401929SLC26A2n.580G>A
c.348G>A (p.Leu116=)
c.21G>A (p.Leu7=)
5g.149978000G>CCA361704805SLC26A2n.580G>C
c.348G>C (p.Leu116Phe)
c.21G>C (p.Leu7Phe)
5g.149978000G>TCA361704806SLC26A2n.580G>T
c.348G>T (p.Leu116Phe)
c.21G>T (p.Leu7Phe)
COSMIC
5g.149978001A>CCA361704807SLC26A2n.581A>C
c.349A>C (p.Ile117Leu)
c.22A>C (p.Ile8Leu)
5g.149978001A>GCA361704808SLC26A2n.581A>G
c.349A>G (p.Ile117Val)
c.22A>G (p.Ile8Val)
gnomAD v4
5g.149978001A>TCA361704809SLC26A2n.581A>T
c.349A>T (p.Ile117Phe)
c.22A>T (p.Ile8Phe)
5g.149978002T>ACA361704810SLC26A2n.582T>A
c.350T>A (p.Ile117Asn)
c.23T>A (p.Ile8Asn)
5g.149978002T>CCA361704811SLC26A2n.582T>C
c.350T>C (p.Ile117Thr)
c.23T>C (p.Ile8Thr)
5g.149978002T>GCA361704812SLC26A2n.582T>G
c.350T>G (p.Ile117Ser)
c.23T>G (p.Ile8Ser)
5g.149978003T>ACA447401934SLC26A2n.583T>A
c.351T>A (p.Ile117=)
c.24T>A (p.Ile8=)
5g.149978003T>CCA447401935SLC26A2n.583T>C
c.351T>C (p.Ile117=)
c.24T>C (p.Ile8=)
5g.149978003T>GCA361704813SLC26A2n.583T>G
c.351T>G (p.Ile117Met)
c.24T>G (p.Ile8Met)
5g.149978004G>ACA361704814SLC26A2n.584G>A
c.352G>A (p.Val118Met)
c.25G>A (p.Val9Met)
5g.149978004G>CCA361704815SLC26A2n.584G>C
c.352G>C (p.Val118Leu)
c.25G>C (p.Val9Leu)
gnomAD v4
5g.149978004G>TCA361704816SLC26A2n.584G>T
c.352G>T (p.Val118Leu)
c.25G>T (p.Val9Leu)
5g.149978005T>ACA361704817SLC26A2n.585T>A
c.353T>A (p.Val118Glu)
c.26T>A (p.Val9Glu)
5g.149978005T>CCA361704818SLC26A2n.585T>C
c.353T>C (p.Val118Ala)
c.26T>C (p.Val9Ala)
gnomAD v4
5g.149978005T>GCA361704819SLC26A2n.585T>G
c.353T>G (p.Val118Gly)
c.26T>G (p.Val9Gly)
5g.149978006G>ACA447401936SLC26A2n.586G>A
c.354G>A (p.Val118=)
c.27G>A (p.Val9=)
5g.149978006G>CCA447401940SLC26A2n.586G>C
c.354G>C (p.Val118=)
c.27G>C (p.Val9=)
5g.149978006G>TCA447401938SLC26A2n.586G>T
c.354G>T (p.Val118=)
c.27G>T (p.Val9=)
ClinVar
5g.149978007G>ACA361704820SLC26A2n.587G>A
c.355G>A (p.Gly119Ser)
c.28G>A (p.Gly10Ser)
dbSNP gnomAD v4
5g.149978007G>CCA361704821SLC26A2n.587G>C
c.355G>C (p.Gly119Arg)
c.28G>C (p.Gly10Arg)
5g.149978007G>TCA361704822SLC26A2n.587G>T
c.355G>T (p.Gly119Cys)
c.28G>T (p.Gly10Cys)
5g.149978008G>ACA361704823SLC26A2n.588G>A
c.356G>A (p.Gly119Asp)
c.29G>A (p.Gly10Asp)
gnomAD v4
5g.149978008G>CCA361704824SLC26A2n.588G>C
c.356G>C (p.Gly119Ala)
c.29G>C (p.Gly10Ala)
5g.149978008G>TCA361704825SLC26A2n.588G>T
c.356G>T (p.Gly119Val)
c.29G>T (p.Gly10Val)
gnomAD v4
5g.149978009C>ACA447401946SLC26A2n.589C>A
c.357C>A (p.Gly119=)
c.30C>A (p.Gly10=)
5g.149978009C>GCA447401944SLC26A2n.589C>G
c.357C>G (p.Gly119=)
c.30C>G (p.Gly10=)
5g.149978009C>TCA447401943SLC26A2n.589C>T
c.357C>T (p.Gly119=)
c.30C>T (p.Gly10=)
5g.149978010A=CA1590737364SLC26A2n.590A=
c.358A= (p.Ile120=)
c.31A= (p.Ile11=)
5g.149978010A>CCA361704828SLC26A2n.590A>C
c.358A>C (p.Ile120Leu)
c.31A>C (p.Ile11Leu)
dbSNP gnomAD v2 gnomAD v4
5g.149978010A>GCA361704827SLC26A2n.590A>G
c.358A>G (p.Ile120Val)
c.31A>G (p.Ile11Val)
gnomAD v4
5g.149978010A>TCA361704826SLC26A2n.590A>T
c.358A>T (p.Ile120Leu)
c.31A>T (p.Ile11Leu)
5g.149978011T>ACA361704831SLC26A2n.591T>A
c.359T>A (p.Ile120Lys)
c.32T>A (p.Ile11Lys)
5g.149978011T>CCA361704829SLC26A2n.591T>C
c.359T>C (p.Ile120Thr)
c.32T>C (p.Ile11Thr)
5g.149978011T>GCA361704830SLC26A2n.591T>G
c.359T>G (p.Ile120Arg)
c.32T>G (p.Ile11Arg)
5g.149978012A>CCA447401952SLC26A2n.592A>C
c.360A>C (p.Ile120=)
c.33A>C (p.Ile11=)
5g.149978012A>GCA361704832SLC26A2n.592A>G
c.360A>G (p.Ile120Met)
c.33A>G (p.Ile11Met)
5g.149978012A>TCA447401953SLC26A2n.592A>T
c.360A>T (p.Ile120=)
c.33A>T (p.Ile11=)
5g.149978013T>ACA361704833SLC26A2n.593T>A
c.361T>A (p.Leu121Ile)
c.34T>A (p.Leu12Ile)
5g.149978013T>CCA447401954SLC26A2n.593T>C
c.361T>C (p.Leu121=)
c.34T>C (p.Leu12=)
5g.149978013T>GCA361704834SLC26A2n.593T>G
c.361T>G (p.Leu121Val)
c.34T>G (p.Leu12Val)
5g.149978014T>ACA361704835SLC26A2n.594T>A
c.362T>A (p.Leu121Ter)
c.35T>A (p.Leu12Ter)
5g.149978014T>CCA361704836SLC26A2n.594T>C
c.362T>C (p.Leu121Ser)
c.35T>C (p.Leu12Ser)
5g.149978014T>GCA361704837SLC26A2n.594T>G
c.362T>G (p.Leu121Ter)
c.35T>G (p.Leu12Ter)
5g.149978015A>CCA361704838SLC26A2n.595A>C
c.363A>C (p.Leu121Phe)
c.36A>C (p.Leu12Phe)
5g.149978015A>GCA447401958SLC26A2n.595A>G
c.363A>G (p.Leu121=)
c.36A>G (p.Leu12=)
5g.149978015A>TCA361704839SLC26A2n.595A>T
c.363A>T (p.Leu121Phe)
c.36A>T (p.Leu12Phe)
dbSNP
5g.149978016T>ACA361704840SLC26A2n.596T>A
c.364T>A (p.Leu122Met)
c.37T>A (p.Leu13Met)
5g.149978016T>CCA447401960SLC26A2n.596T>C
c.364T>C (p.Leu122=)
c.37T>C (p.Leu13=)
ClinVar dbSNP
5g.149978016T>GCA361704841SLC26A2n.596T>G
c.364T>G (p.Leu122Val)
c.37T>G (p.Leu13Val)
5g.149978017T>ACA361704843SLC26A2n.597T>A
c.365T>A (p.Leu122Ter)
c.38T>A (p.Leu13Ter)
5g.149978017T>CCA361704844SLC26A2n.597T>C
c.365T>C (p.Leu122Ser)
c.38T>C (p.Leu13Ser)
5g.149978017T>GCA361704842SLC26A2n.597T>G
c.365T>G (p.Leu122Trp)
c.38T>G (p.Leu13Trp)
5g.149978018G>ACA447401961SLC26A2n.598G>A
c.366G>A (p.Leu122=)
c.39G>A (p.Leu13=)
5g.149978018G>CCA361704845SLC26A2n.598G>C
c.366G>C (p.Leu122Phe)
c.39G>C (p.Leu13Phe)
5g.149978018G>TCA361704846SLC26A2n.598G>T
c.366G>T (p.Leu122Phe)
c.39G>T (p.Leu13Phe)
gnomAD v4
5g.149978019G>ACA361704847SLC26A2n.599G>A
c.367G>A (p.Val123Met)
c.40G>A (p.Val14Met)
gnomAD v4
5g.149978019G>CCA361704848SLC26A2n.599G>C
c.367G>C (p.Val123Leu)
c.40G>C (p.Val14Leu)
5g.149978019G>TCA361704849SLC26A2n.599G>T
c.367G>T (p.Val123Leu)
c.40G>T (p.Val14Leu)
5g.149978020T>ACA361704852SLC26A2n.600T>A
c.368T>A (p.Val123Glu)
c.41T>A (p.Val14Glu)
5g.149978020T>CCA361704850SLC26A2n.600T>C
c.368T>C (p.Val123Ala)
c.41T>C (p.Val14Ala)
5g.149978020T>GCA361704851SLC26A2n.600T>G
c.368T>G (p.Val123Gly)
c.41T>G (p.Val14Gly)
5g.149978021G>ACA447401968SLC26A2n.601G>A
c.369G>A (p.Val123=)
c.42G>A (p.Val14=)
5g.149978021G>CCA447401969SLC26A2n.601G>C
c.369G>C (p.Val123=)
c.42G>C (p.Val14=)
5g.149978021G=CA1590737365SLC26A2n.601G=
c.369G= (p.Val123=)
c.42G= (p.Val14=)
5g.149978021G>TCA447401971SLC26A2n.601G>T
c.369G>T (p.Val123=)
c.42G>T (p.Val14=)
5g.149978022C>ACA3505238SLC26A2n.602C>A
c.370C>A (p.Pro124Thr)
c.43C>A (p.Pro15Thr)
ClinVar dbSNP ExAC gnomAD v2
5g.149978022C=CA1590737366SLC26A2n.602C=
c.370C= (p.Pro124=)
c.43C= (p.Pro15=)
5g.149978022C>GCA361704853SLC26A2n.602C>G
c.370C>G (p.Pro124Ala)
c.43C>G (p.Pro15Ala)
5g.149978022C>TCA361704854SLC26A2n.602C>T
c.370C>T (p.Pro124Ser)
c.43C>T (p.Pro15Ser)
5g.149978025dupCA805557005SLC26A2n.605dup
c.373dup (p.Gln125ProfsTer?)
c.46dup (p.Gln16ProfsTer?)
dbSNP
5g.149978023C>ACA361704855SLC26A2n.603C>A
c.371C>A (p.Pro124His)
c.44C>A (p.Pro15His)
5g.149978023C>GCA361704856SLC26A2n.603C>G
c.371C>G (p.Pro124Arg)
c.44C>G (p.Pro15Arg)
5g.149978023C>TCA361704857SLC26A2n.603C>T
c.371C>T (p.Pro124Leu)
c.44C>T (p.Pro15Leu)
5g.149978024C>ACA447401973SLC26A2n.604C>A
c.372C>A (p.Pro124=)
c.45C>A (p.Pro15=)
5g.149978024C>GCA447401974SLC26A2n.604C>G
c.372C>G (p.Pro124=)
c.45C>G (p.Pro15=)
ClinVar
5g.149978024C>TCA447401975SLC26A2n.604C>T
c.372C>T (p.Pro124=)
c.45C>T (p.Pro15=)
5g.149978025C>ACA361704859SLC26A2n.605C>A
c.373C>A (p.Gln125Lys)
c.46C>A (p.Gln16Lys)
5g.149978025C=CA1590737367SLC26A2n.605C=
c.373C= (p.Gln125=)
c.46C= (p.Gln16=)
5g.149978025C>GCA361704860SLC26A2n.605C>G
c.373C>G (p.Gln125Glu)
c.46C>G (p.Gln16Glu)
5g.149978025C>TCA361704858SLC26A2n.605C>T
c.373C>T (p.Gln125Ter)
c.46C>T (p.Gln16Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.149978026A=CA1590737368SLC26A2n.606A=
c.374A= (p.Gln125=)
c.47A= (p.Gln16=)
5g.149978026A>CCA129082385SLC26A2n.606A>C
c.374A>C (p.Gln125Pro)
c.47A>C (p.Gln16Pro)
dbSNP
5g.149978026A>GCA361704861SLC26A2n.606A>G
c.374A>G (p.Gln125Arg)
c.47A>G (p.Gln16Arg)
5g.149978026A>TCA10576339SLC26A2n.606A>T
c.374A>T (p.Gln125Leu)
c.47A>T (p.Gln16Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.149978027G>ACA447401977SLC26A2n.607G>A
c.375G>A (p.Gln125=)
c.48G>A (p.Gln16=)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.149978027G>CCA361704862SLC26A2n.607G>C
c.375G>C (p.Gln125His)
c.48G>C (p.Gln16His)
5g.149978027G=CA1590737369SLC26A2n.607G=
c.375G= (p.Gln125=)
c.48G= (p.Gln16=)
5g.149978027G>TCA361704863SLC26A2n.607G>T
c.375G>T (p.Gln125His)
c.48G>T (p.Gln16His)
5g.149978028T>ACA361704864SLC26A2n.608T>A
c.376T>A (p.Ser126Thr)
c.49T>A (p.Ser17Thr)
5g.149978028T>CCA361704865SLC26A2n.608T>C
c.376T>C (p.Ser126Pro)
c.49T>C (p.Ser17Pro)
dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.149978028T>GCA361704866SLC26A2n.608T>G
c.376T>G (p.Ser126Ala)
c.49T>G (p.Ser17Ala)
5g.149978028T=CA1590737370SLC26A2n.608T=
c.376T= (p.Ser126=)
c.49T= (p.Ser17=)
5g.149978029C>ACA361704867SLC26A2n.609C>A
c.377C>A (p.Ser126Tyr)
c.50C>A (p.Ser17Tyr)
5g.149978029C>GCA361704868SLC26A2n.609C>G
c.377C>G (p.Ser126Cys)
c.50C>G (p.Ser17Cys)
5g.149978029C>TCA361704869SLC26A2n.609C>T
c.377C>T (p.Ser126Phe)
c.50C>T (p.Ser17Phe)
5g.149978030C>ACA447401979SLC26A2n.610C>A
c.378C>A (p.Ser126=)
c.51C>A (p.Ser17=)
5g.149978030C>GCA447401980SLC26A2n.610C>G
c.378C>G (p.Ser126=)
c.51C>G (p.Ser17=)
ClinVar
5g.149978030C>TCA447401981SLC26A2n.610C>T
c.378C>T (p.Ser126=)
c.51C>T (p.Ser17=)
5g.149978031A=CA1590737371SLC26A2n.611A=
c.379A= (p.Ile127=)
c.52A= (p.Ile18=)
5g.149978031A>CCA361704870SLC26A2n.611A>C
c.379A>C (p.Ile127Leu)
c.52A>C (p.Ile18Leu)
5g.149978031A>GCA361704872SLC26A2n.611A>G
c.379A>G (p.Ile127Val)
c.52A>G (p.Ile18Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.149978031A>TCA361704871SLC26A2n.611A>T
c.379A>T (p.Ile127Phe)
c.52A>T (p.Ile18Phe)
5g.149978032T>ACA361704873SLC26A2n.612T>A
c.380T>A (p.Ile127Asn)
c.53T>A (p.Ile18Asn)
5g.149978032T>CCA3505239SLC26A2n.612T>C
c.380T>C (p.Ile127Thr)
c.53T>C (p.Ile18Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.149978032T>GCA361704874SLC26A2n.612T>G
c.380T>G (p.Ile127Ser)
c.53T>G (p.Ile18Ser)
5g.149978032T=CA1590737372SLC26A2n.612T=
c.380T= (p.Ile127=)
c.53T= (p.Ile18=)
5g.149978033T>ACA447401869SLC26A2n.613T>A
c.381T>A (p.Ile127=)
c.54T>A (p.Ile18=)
5g.149978033T>CCA447401871SLC26A2n.613T>C
c.381T>C (p.Ile127=)
c.54T>C (p.Ile18=)
5g.149978033T>GCA361704875SLC26A2n.613T>G
c.381T>G (p.Ile127Met)
c.54T>G (p.Ile18Met)
ClinVar
5g.149978034G>ACA361704876SLC26A2n.614G>A
c.382G>A (p.Ala128Thr)
c.55G>A (p.Ala19Thr)
5g.149978034G>CCA361704878SLC26A2n.614G>C
c.382G>C (p.Ala128Pro)
c.55G>C (p.Ala19Pro)
5g.149978034G>TCA361704877SLC26A2n.614G>T
c.382G>T (p.Ala128Ser)
c.55G>T (p.Ala19Ser)
5g.149978035C>ACA361704879SLC26A2n.615C>A
c.383C>A (p.Ala128Asp)
c.56C>A (p.Ala19Asp)
5g.149978035C=CA1590737373SLC26A2n.615C=
c.383C= (p.Ala128=)
c.56C= (p.Ala19=)
5g.149978035C>GCA361704880SLC26A2n.615C>G
c.383C>G (p.Ala128Gly)
c.56C>G (p.Ala19Gly)
5g.149978035C>TCA3505240SLC26A2n.615C>T
c.383C>T (p.Ala128Val)
c.56C>T (p.Ala19Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978036T>ACA447401877SLC26A2n.616T>A
c.384T>A (p.Ala128=)
c.57T>A (p.Ala19=)
ClinVar
5g.149978036T>CCA447401878SLC26A2n.616T>C
c.384T>C (p.Ala128=)
c.57T>C (p.Ala19=)
5g.149978036T>GCA447401879SLC26A2n.616T>G
c.384T>G (p.Ala128=)
c.57T>G (p.Ala19=)
5g.149978037T>ACA361704881SLC26A2n.617T>A
c.385T>A (p.Tyr129Asn)
c.58T>A (p.Tyr20Asn)
5g.149978037T>CCA361704882SLC26A2n.617T>C
c.385T>C (p.Tyr129His)
c.58T>C (p.Tyr20His)
5g.149978037T>GCA361704883SLC26A2n.617T>G
c.385T>G (p.Tyr129Asp)
c.58T>G (p.Tyr20Asp)
5g.149978038A>CCA361704884SLC26A2n.618A>C
c.386A>C (p.Tyr129Ser)
c.59A>C (p.Tyr20Ser)
5g.149978038A>GCA361704885SLC26A2n.618A>G
c.386A>G (p.Tyr129Cys)
c.59A>G (p.Tyr20Cys)
5g.149978038A>TCA361704886SLC26A2n.618A>T
c.386A>T (p.Tyr129Phe)
c.59A>T (p.Tyr20Phe)
5g.149978039T>ACA361704887SLC26A2n.619T>A
c.387T>A (p.Tyr129Ter)
c.60T>A (p.Tyr20Ter)
5g.149978039T>CCA447401883SLC26A2n.619T>C
c.387T>C (p.Tyr129=)
c.60T>C (p.Tyr20=)
dbSNP
5g.149978039T>GCA361704888SLC26A2n.619T>G
c.387T>G (p.Tyr129Ter)
c.60T>G (p.Tyr20Ter)
ClinVar dbSNP
5g.149978039T=CA1590737374SLC26A2n.619T=
c.387T= (p.Tyr129=)
c.60T= (p.Tyr20=)
5g.149978040T>ACA361704889SLC26A2n.620T>A
c.388T>A (p.Ser130Thr)
c.61T>A (p.Ser21Thr)
5g.149978040T>CCA361704891SLC26A2n.620T>C
c.388T>C (p.Ser130Pro)
c.61T>C (p.Ser21Pro)
5g.149978040T>GCA361704890SLC26A2n.620T>G
c.388T>G (p.Ser130Ala)
c.61T>G (p.Ser21Ala)
5g.149978040_149978041delinsTCCA1590737375SLC26A2n.620_621delinsTC
c.388_389delinsTC (p.Ser130=)
c.61_62delinsTC (p.Ser21=)
5g.149978041C>ACA361704892SLC26A2n.621C>A
c.389C>A (p.Ser130Tyr)
c.62C>A (p.Ser21Tyr)
5g.149978041C>GCA361704893SLC26A2n.621C>G
c.389C>G (p.Ser130Cys)
c.62C>G (p.Ser21Cys)
5g.149978041C>TCA361704894SLC26A2n.621C>T
c.389C>T (p.Ser130Phe)
c.62C>T (p.Ser21Phe)
ClinVar
5g.149978043delCA252989SLC26A2n.623del
c.391del (p.Leu131CysfsTer?)
c.64del (p.Leu22CysfsTer?)
ClinVar dbSNP
5g.149978042C>ACA447401888SLC26A2n.622C>A
c.390C>A (p.Ser130=)
c.63C>A (p.Ser21=)
5g.149978042C=CA1590737376SLC26A2n.622C=
c.390C= (p.Ser130=)
c.63C= (p.Ser21=)
5g.149978042C>GCA447401889SLC26A2n.622C>G
c.390C>G (p.Ser130=)
c.63C>G (p.Ser21=)
ClinVar
5g.149978042C>TCA447401890SLC26A2n.622C>T
c.390C>T (p.Ser130=)
c.63C>T (p.Ser21=)
ClinVar dbSNP gnomAD v4
5g.149978043C>ACA361704895SLC26A2n.623C>A
c.391C>A (p.Leu131Met)
c.64C>A (p.Leu22Met)
5g.149978043C>GCA361704896SLC26A2n.623C>G
c.391C>G (p.Leu131Val)
c.64C>G (p.Leu22Val)
5g.149978043C>TCA447401892SLC26A2n.623C>T
c.391C>T (p.Leu131=)
c.64C>T (p.Leu22=)
gnomAD v4
5g.149978044T>ACA361704897SLC26A2n.624T>A
c.392T>A (p.Leu131Gln)
c.65T>A (p.Leu22Gln)
5g.149978044T>CCA361704898SLC26A2n.624T>C
c.392T>C (p.Leu131Pro)
c.65T>C (p.Leu22Pro)
gnomAD v4
5g.149978044T>GCA361704899SLC26A2n.624T>G
c.392T>G (p.Leu131Arg)
c.65T>G (p.Leu22Arg)
5g.149978045G>ACA447401898SLC26A2n.625G>A
c.393G>A (p.Leu131=)
c.66G>A (p.Leu22=)
dbSNP
5g.149978045G>CCA447401899SLC26A2n.625G>C
c.393G>C (p.Leu131=)
c.66G>C (p.Leu22=)
ClinVar gnomAD v4
5g.149978045G=CA1590737377SLC26A2n.625G=
c.393G= (p.Leu131=)
c.66G= (p.Leu22=)
5g.149978045G>TCA447401900SLC26A2n.625G>T
c.393G>T (p.Leu131=)
c.66G>T (p.Leu22=)
5g.149978051_149978054dupCA2740094132SLC26A2n.631_634dup
c.399_402dup (p.Gln135TrpfsTer?)
c.72_75dup (p.Gln26TrpfsTer?)
ClinVar
5g.149978046C>ACA361704900SLC26A2n.626C>A
c.394C>A (p.Leu132Met)
c.67C>A (p.Leu23Met)
5g.149978046C>GCA361704901SLC26A2n.626C>G
c.394C>G (p.Leu132Val)
c.67C>G (p.Leu23Val)
gnomAD v4
5g.149978046C>TCA447401901SLC26A2n.626C>T
c.394C>T (p.Leu132=)
c.67C>T (p.Leu23=)
5g.149978047T>ACA361704904SLC26A2n.627T>A
c.395T>A (p.Leu132Gln)
c.68T>A (p.Leu23Gln)
5g.149978047T>CCA361704903SLC26A2n.627T>C
c.395T>C (p.Leu132Pro)
c.68T>C (p.Leu23Pro)
ClinVar dbSNP gnomAD v4
5g.149978047T>GCA361704902SLC26A2n.627T>G
c.395T>G (p.Leu132Arg)
c.68T>G (p.Leu23Arg)
5g.149978047T=CA1590737378SLC26A2n.627T=
c.395T= (p.Leu132=)
c.68T= (p.Leu23=)
5g.149978048G>ACA447401905SLC26A2n.628G>A
c.396G>A (p.Leu132=)
c.69G>A (p.Leu23=)
5g.149978048G>CCA447401903SLC26A2n.628G>C
c.396G>C (p.Leu132=)
c.69G>C (p.Leu23=)
5g.149978048G=CA1590737379SLC26A2n.628G=
c.396G= (p.Leu132=)
c.69G= (p.Leu23=)
5g.149978048G>TCA447401902SLC26A2n.628G>T
c.396G>T (p.Leu132=)
c.69G>T (p.Leu23=)
dbSNP
5g.149978049G>ACA361704905SLC26A2n.629G>A
c.397G>A (p.Ala133Thr)
c.70G>A (p.Ala24Thr)
5g.149978049G>CCA3505241SLC26A2n.629G>C
c.397G>C (p.Ala133Pro)
c.70G>C (p.Ala24Pro)
dbSNP ExAC gnomAD v2
5g.149978049G=CA1590737380SLC26A2n.629G=
c.397G= (p.Ala133=)
c.70G= (p.Ala24=)
5g.149978049G>TCA361704906SLC26A2n.629G>T
c.397G>T (p.Ala133Ser)
c.70G>T (p.Ala24Ser)
5g.149978050C>ACA361704907SLC26A2n.630C>A
c.398C>A (p.Ala133Asp)
c.71C>A (p.Ala24Asp)
5g.149978050C=CA1590737381SLC26A2n.630C=
c.398C= (p.Ala133=)
c.71C= (p.Ala24=)
5g.149978050C>GCA361704908SLC26A2n.630C>G
c.398C>G (p.Ala133Gly)
c.71C>G (p.Ala24Gly)
5g.149978050C>TCA252998SLC26A2n.630C>T
c.398C>T (p.Ala133Val)
c.71C>T (p.Ala24Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149978051T>ACA447401912SLC26A2n.631T>A
c.399T>A (p.Ala133=)
c.72T>A (p.Ala24=)
5g.149978051T>CCA447401910SLC26A2n.631T>C
c.399T>C (p.Ala133=)
c.72T>C (p.Ala24=)
5g.149978051T>GCA447401907SLC26A2n.631T>G
c.399T>G (p.Ala133=)
c.72T>G (p.Ala24=)
5g.149978051T=CA1590737382SLC26A2n.631T=
c.399T= (p.Ala133=)
c.72T= (p.Ala24=)
5g.149978052G>ACA361704909SLC26A2n.632G>A
c.400G>A (p.Gly134Ser)
c.73G>A (p.Gly25Ser)
5g.149978052G>CCA361704910SLC26A2n.632G>C
c.400G>C (p.Gly134Arg)
c.73G>C (p.Gly25Arg)
5g.149978052G>TCA361704911SLC26A2n.632G>T
c.400G>T (p.Gly134Cys)
c.73G>T (p.Gly25Cys)
5g.149978052_149978055dupCA1590737383SLC26A2n.632_635dup
c.400_403dup (p.Gln135ArgfsTer?)
c.73_76dup (p.Gln26ArgfsTer?)
dbSNP
5g.149978053G>ACA361704912SLC26A2n.633G>A
c.401G>A (p.Gly134Asp)
c.74G>A (p.Gly25Asp)
5g.149978053G>CCA361704913SLC26A2n.633G>C
c.401G>C (p.Gly134Ala)
c.74G>C (p.Gly25Ala)
5g.149978053G>TCA361704914SLC26A2n.633G>T
c.401G>T (p.Gly134Val)
c.74G>T (p.Gly25Val)
5g.149978054C>ACA447401914SLC26A2n.634C>A
c.402C>A (p.Gly134=)
c.75C>A (p.Gly25=)
5g.149978054C>GCA447401917SLC26A2n.634C>G
c.402C>G (p.Gly134=)
c.75C>G (p.Gly25=)
5g.149978054C>TCA447401915SLC26A2n.634C>T
c.402C>T (p.Gly134=)
c.75C>T (p.Gly25=)
ClinVar
5g.149978055C>ACA263263SLC26A2n.635C>A
c.403C>A (p.Gln135Lys)
c.76C>A (p.Gln26Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149978055C=CA1590737384SLC26A2n.635C=
c.403C= (p.Gln135=)
c.76C= (p.Gln26=)
5g.149978055C>GCA361704916SLC26A2n.635C>G
c.403C>G (p.Gln135Glu)
c.76C>G (p.Gln26Glu)
5g.149978055C>TCA361704915SLC26A2n.635C>T
c.403C>T (p.Gln135Ter)
c.76C>T (p.Gln26Ter)
gnomAD v4
5g.149978056A>CCA361704917SLC26A2n.636A>C
c.404A>C (p.Gln135Pro)
c.77A>C (p.Gln26Pro)
5g.149978056A>GCA361704919SLC26A2n.636A>G
c.404A>G (p.Gln135Arg)
c.77A>G (p.Gln26Arg)
5g.149978056A>TCA361704918SLC26A2n.636A>T
c.404A>T (p.Gln135Leu)
c.77A>T (p.Gln26Leu)
5g.149978057A>CCA361704920SLC26A2n.637A>C
c.405A>C (p.Gln135His)
c.78A>C (p.Gln26His)
5g.149978057A>GCA447401925SLC26A2n.637A>G
c.405A>G (p.Gln135=)
c.78A>G (p.Gln26=)
5g.149978057A>TCA361704921SLC26A2n.637A>T
c.405A>T (p.Gln135His)
c.78A>T (p.Gln26His)
5g.149978058G>ACA361704922SLC26A2n.638G>A
c.406G>A (p.Glu136Lys)
c.79G>A (p.Glu27Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149978058G>CCA361704923SLC26A2n.638G>C
c.406G>C (p.Glu136Gln)
c.79G>C (p.Glu27Gln)
5g.149978058G=CA1590737385SLC26A2n.638G=
c.406G= (p.Glu136=)
c.79G= (p.Glu27=)
5g.149978058G>TCA361704924SLC26A2n.638G>T
c.406G>T (p.Glu136Ter)
c.79G>T (p.Glu27Ter)
5g.149978059A>CCA361704925SLC26A2n.639A>C
c.407A>C (p.Glu136Ala)
c.80A>C (p.Glu27Ala)
5g.149978059A>GCA361704926SLC26A2n.639A>G
c.407A>G (p.Glu136Gly)
c.80A>G (p.Glu27Gly)
5g.149978059A>TCA361704927SLC26A2n.639A>T
c.407A>T (p.Glu136Val)
c.80A>T (p.Glu27Val)
5g.149978060A>CCA361704928SLC26A2n.640A>C
c.408A>C (p.Glu136Asp)
c.81A>C (p.Glu27Asp)
5g.149978060A>GCA447401933SLC26A2n.640A>G
c.408A>G (p.Glu136=)
c.81A>G (p.Glu27=)
ClinVar gnomAD v4
5g.149978060A>TCA361704929SLC26A2n.640A>T
c.408A>T (p.Glu136Asp)
c.81A>T (p.Glu27Asp)
5g.149978061C>ACA361704931SLC26A2n.641C>A
c.409C>A (p.Pro137Thr)
c.82C>A (p.Pro28Thr)
5g.149978061C=CA1590737386SLC26A2n.641C=
c.409C= (p.Pro137=)
c.82C= (p.Pro28=)
5g.149978061C>GCA361704930SLC26A2n.641C>G
c.409C>G (p.Pro137Ala)
c.82C>G (p.Pro28Ala)
5g.149978061C>TCA3505242SLC26A2n.641C>T
c.409C>T (p.Pro137Ser)
c.82C>T (p.Pro28Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978062C>ACA361704932SLC26A2n.642C>A
c.410C>A (p.Pro137His)
c.83C>A (p.Pro28His)
5g.149978062C>GCA361704933SLC26A2n.642C>G
c.410C>G (p.Pro137Arg)
c.83C>G (p.Pro28Arg)
5g.149978062C>TCA361704934SLC26A2n.642C>T
c.410C>T (p.Pro137Leu)
c.83C>T (p.Pro28Leu)
gnomAD v4
5g.149978063T>ACA447401939SLC26A2n.643T>A
c.411T>A (p.Pro137=)
c.84T>A (p.Pro28=)
5g.149978063T>CCA447401941SLC26A2n.643T>C
c.411T>C (p.Pro137=)
c.84T>C (p.Pro28=)
5g.149978063T>GCA447401942SLC26A2n.643T>G
c.411T>G (p.Pro137=)
c.84T>G (p.Pro28=)
ClinVar dbSNP gnomAD v4
5g.149978063T=CA1590737387SLC26A2n.643T=
c.411T= (p.Pro137=)
c.84T= (p.Pro28=)
5g.149978064G>ACA361704935SLC26A2n.644G>A
c.412G>A (p.Val138Ile)
c.85G>A (p.Val29Ile)
gnomAD v4
5g.149978064G>CCA361704936SLC26A2n.644G>C
c.412G>C (p.Val138Leu)
c.85G>C (p.Val29Leu)
dbSNP gnomAD v3 gnomAD v4
5g.149978064G=CA1590737388SLC26A2n.644G=
c.412G= (p.Val138=)
c.85G= (p.Val29=)
5g.149978064G>TCA361704937SLC26A2n.644G>T
c.412G>T (p.Val138Phe)
c.85G>T (p.Val29Phe)
5g.149978065T>ACA361704938SLC26A2n.645T>A
c.413T>A (p.Val138Asp)
c.86T>A (p.Val29Asp)
5g.149978065T>CCA361704939SLC26A2n.645T>C
c.413T>C (p.Val138Ala)
c.86T>C (p.Val29Ala)
5g.149978065T>GCA361704940SLC26A2n.645T>G
c.413T>G (p.Val138Gly)
c.86T>G (p.Val29Gly)
5g.149978066C>ACA447401949SLC26A2n.646C>A
c.414C>A (p.Val138=)
c.87C>A (p.Val29=)
ClinVar
5g.149978066C>GCA447401950SLC26A2n.646C>G
c.414C>G (p.Val138=)
c.87C>G (p.Val29=)
5g.149978066C>TCA447401951SLC26A2n.646C>T
c.414C>T (p.Val138=)
c.87C>T (p.Val29=)
5g.149978067T>ACA361704941SLC26A2n.647T>A
c.415T>A (p.Tyr139Asn)
c.88T>A (p.Tyr30Asn)
5g.149978067T>CCA361704942SLC26A2n.647T>C
c.415T>C (p.Tyr139His)
c.88T>C (p.Tyr30His)
5g.149978067T>GCA361704943SLC26A2n.647T>G
c.415T>G (p.Tyr139Asp)
c.88T>G (p.Tyr30Asp)
5g.149978068A=CA1590737389SLC26A2n.648A=
c.416A= (p.Tyr139=)
c.89A= (p.Tyr30=)
5g.149978068A>CCA361704945SLC26A2n.648A>C
c.416A>C (p.Tyr139Ser)
c.89A>C (p.Tyr30Ser)
5g.149978068A>GCA361704946SLC26A2n.648A>G
c.416A>G (p.Tyr139Cys)
c.89A>G (p.Tyr30Cys)
dbSNP gnomAD v4
5g.149978068A>TCA361704944SLC26A2n.648A>T
c.416A>T (p.Tyr139Phe)
c.89A>T (p.Tyr30Phe)
5g.149978069T>ACA361704947SLC26A2n.649T>A
c.417T>A (p.Tyr139Ter)
c.90T>A (p.Tyr30Ter)
5g.149978069T>CCA447401959SLC26A2n.649T>C
c.417T>C (p.Tyr139=)
c.90T>C (p.Tyr30=)
5g.149978069T>GCA361704948SLC26A2n.649T>G
c.417T>G (p.Tyr139Ter)
c.90T>G (p.Tyr30Ter)
5g.149978070G>ACA361704949SLC26A2n.650G>A
c.418G>A (p.Gly140Ser)
c.91G>A (p.Gly31Ser)
5g.149978070G>CCA361704950SLC26A2n.650G>C
c.418G>C (p.Gly140Arg)
c.91G>C (p.Gly31Arg)
5g.149978070G>TCA361704951SLC26A2n.650G>T
c.418G>T (p.Gly140Cys)
c.91G>T (p.Gly31Cys)
gnomAD v4
5g.149978071G>ACA361704952SLC26A2n.651G>A
c.419G>A (p.Gly140Asp)
c.92G>A (p.Gly31Asp)
dbSNP gnomAD v2 gnomAD v4
5g.149978071G>CCA361704953SLC26A2n.651G>C
c.419G>C (p.Gly140Ala)
c.92G>C (p.Gly31Ala)
5g.149978071G=CA1590737390SLC26A2n.651G=
c.419G= (p.Gly140=)
c.92G= (p.Gly31=)
5g.149978071G>TCA361704954SLC26A2n.651G>T
c.419G>T (p.Gly140Val)
c.92G>T (p.Gly31Val)
gnomAD v4
5g.149978072T>ACA447401965SLC26A2n.652T>A
c.420T>A (p.Gly140=)
c.93T>A (p.Gly31=)
5g.149978072T>CCA447401967SLC26A2n.652T>C
c.420T>C (p.Gly140=)
c.93T>C (p.Gly31=)
ClinVar
5g.149978072T>GCA447401966SLC26A2n.652T>G
c.420T>G (p.Gly140=)
c.93T>G (p.Gly31=)
5g.149978073C>ACA361704955SLC26A2n.653C>A
c.421C>A (p.Leu141Met)
c.94C>A (p.Leu32Met)
5g.149978073C=CA1590737391SLC26A2n.653C=
c.421C= (p.Leu141=)
c.94C= (p.Leu32=)
5g.149978073C>GCA361704956SLC26A2n.653C>G
c.421C>G (p.Leu141Val)
c.94C>G (p.Leu32Val)
5g.149978073C>TCA447401970SLC26A2n.653C>T
c.421C>T (p.Leu141=)
c.94C>T (p.Leu32=)
ClinVar dbSNP gnomAD v4
5g.149978074T>ACA361704957SLC26A2n.654T>A
c.422T>A (p.Leu141Gln)
c.95T>A (p.Leu32Gln)
5g.149978074T>CCA3505243SLC26A2n.654T>C
c.422T>C (p.Leu141Pro)
c.95T>C (p.Leu32Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.149978074T>GCA361704958SLC26A2n.654T>G
c.422T>G (p.Leu141Arg)
c.95T>G (p.Leu32Arg)
5g.149978074T=CA1590737392SLC26A2n.654T=
c.422T= (p.Leu141=)
c.95T= (p.Leu32=)
5g.149978075G>ACA3505245SLC26A2n.655G>A
c.423G>A (p.Leu141=)
c.96G>A (p.Leu32=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978075G>CCA3505244SLC26A2n.655G>C
c.423G>C (p.Leu141=)
c.96G>C (p.Leu32=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.149978075G=CA1590737393SLC26A2n.655G=
c.423G= (p.Leu141=)
c.96G= (p.Leu32=)
5g.149978075G>TCA447401976SLC26A2n.655G>T
c.423G>T (p.Leu141=)
c.96G>T (p.Leu32=)
gnomAD v4
5g.149978076T>ACA361704959SLC26A2n.656T>A
c.424T>A (p.Tyr142Asn)
c.97T>A (p.Tyr33Asn)
5g.149978076T>CCA361704960SLC26A2n.656T>C
c.424T>C (p.Tyr142His)
c.97T>C (p.Tyr33His)
COSMIC
5g.149978076T>GCA361704961SLC26A2n.656T>G
c.424T>G (p.Tyr142Asp)
c.97T>G (p.Tyr33Asp)
5g.149978077A>CCA361704962SLC26A2n.657A>C
c.425A>C (p.Tyr142Ser)
c.98A>C (p.Tyr33Ser)
5g.149978077A>GCA361704963SLC26A2n.657A>G
c.425A>G (p.Tyr142Cys)
c.98A>G (p.Tyr33Cys)
5g.149978077A>TCA361704964SLC26A2n.657A>T
c.425A>T (p.Tyr142Phe)
c.98A>T (p.Tyr33Phe)
5g.149978077_149978078insTTGATCA2543984931SLC26A2n.657_658insTTGAT
c.425_426insTTGAT (p.Thr143Ter)
c.98_99insTTGAT (p.Thr34Ter)
5g.149978078C>ACA361704966SLC26A2n.658C>A
c.426C>A (p.Tyr142Ter)
c.99C>A (p.Tyr33Ter)
ClinVar
5g.149978078C>GCA361704965SLC26A2n.658C>G
c.426C>G (p.Tyr142Ter)
c.99C>G (p.Tyr33Ter)
5g.149978078C>TCA447401978SLC26A2n.658C>T
c.426C>T (p.Tyr142=)
c.99C>T (p.Tyr33=)
ClinVar dbSNP
5g.149978079A=CA1590737394SLC26A2n.659A=
c.427A= (p.Thr143=)
c.100A= (p.Thr34=)
5g.149978079A>CCA361704967SLC26A2n.659A>C
c.427A>C (p.Thr143Pro)
c.100A>C (p.Thr34Pro)
dbSNP gnomAD v2 gnomAD v4
5g.149978079A>GCA361704968SLC26A2n.659A>G
c.427A>G (p.Thr143Ala)
c.100A>G (p.Thr34Ala)
gnomAD v4
5g.149978079A>TCA361704969SLC26A2n.659A>T
c.427A>T (p.Thr143Ser)
c.100A>T (p.Thr34Ser)
5g.149978080C>ACA3505246SLC26A2n.660C>A
c.428C>A (p.Thr143Lys)
c.101C>A (p.Thr34Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.149978080C=CA1590737395SLC26A2n.660C=
c.428C= (p.Thr143=)
c.101C= (p.Thr34=)
5g.149978080C>GCA361704970SLC26A2n.660C>G
c.428C>G (p.Thr143Arg)
c.101C>G (p.Thr34Arg)
5g.149978080C>TCA361704971SLC26A2n.660C>T
c.428C>T (p.Thr143Ile)
c.101C>T (p.Thr34Ile)
gnomAD v4
5g.149978081A=CA1590737396SLC26A2n.661A=
c.429A= (p.Thr143=)
c.102A= (p.Thr34=)
5g.149978081A>CCA447401982SLC26A2n.661A>C
c.429A>C (p.Thr143=)
c.102A>C (p.Thr34=)
5g.149978081A>GCA447401983SLC26A2n.661A>G
c.429A>G (p.Thr143=)
c.102A>G (p.Thr34=)
5g.149978081A>TCA447401984SLC26A2n.661A>T
c.429A>T (p.Thr143=)
c.102A>T (p.Thr34=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.149978082T>ACA361704972SLC26A2n.662T>A
c.430T>A (p.Ser144Thr)
c.103T>A (p.Ser35Thr)
gnomAD v4
5g.149978082T>CCA361704974SLC26A2n.662T>C
c.430T>C (p.Ser144Pro)
c.103T>C (p.Ser35Pro)
gnomAD v4
5g.149978082T>GCA361704973SLC26A2n.662T>G
c.430T>G (p.Ser144Ala)
c.103T>G (p.Ser35Ala)
5g.149978083_149978084delCA913108442SLC26A2n.663_664del
c.431_432del (p.Ser144PhefsTer30)
c.104_105del (p.Ser35PhefsTer30)
5g.149978083C>ACA361704975SLC26A2n.663C>A
c.431C>A (p.Ser144Tyr)
c.104C>A (p.Ser35Tyr)
ClinVar dbSNP gnomAD v2
5g.149978083C=CA1590737398SLC26A2n.663C=
c.431C= (p.Ser144=)
c.104C= (p.Ser35=)
5g.149978083C>GCA361704977SLC26A2n.663C>G
c.431C>G (p.Ser144Cys)
c.104C>G (p.Ser35Cys)
5g.149978083C>TCA361704976SLC26A2n.663C>T
c.431C>T (p.Ser144Phe)
c.104C>T (p.Ser35Phe)
5g.149978083_149978084delinsCTCA1590737397SLC26A2n.663_664delinsCT
c.431_432delinsCT (p.Ser144=)
c.104_105delinsCT (p.Ser35=)
5g.149978084T>ACA447401985SLC26A2n.664T>A
c.432T>A (p.Ser144=)
c.105T>A (p.Ser35=)
5g.149978084T>CCA447401986SLC26A2n.664T>C
c.432T>C (p.Ser144=)
c.105T>C (p.Ser35=)
5g.149978084T>GCA447401987SLC26A2n.664T>G
c.432T>G (p.Ser144=)
c.105T>G (p.Ser35=)
5g.149978090dupCA3505247SLC26A2n.670dup
c.438dup (p.Ala147CysfsTer28)
c.111dup (p.Ala38CysfsTer28)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978090delCA447401988SLC26A2n.670del
c.438del (p.Phe146LeufsTer26)
c.111del (p.Phe37LeufsTer26)
ClinVar dbSNP gnomAD v4 COSMIC
5g.149978085T>ACA361704979SLC26A2n.665T>A
c.433T>A (p.Phe145Ile)
c.106T>A (p.Phe36Ile)
5g.149978085T>CCA361704978SLC26A2n.665T>C
c.433T>C (p.Phe145Leu)
c.106T>C (p.Phe36Leu)
5g.149978085T>GCA361704980SLC26A2n.665T>G
c.433T>G (p.Phe145Val)
c.106T>G (p.Phe36Val)
5g.149978086T>ACA361704981SLC26A2n.666T>A
c.434T>A (p.Phe145Tyr)
c.107T>A (p.Phe36Tyr)
5g.149978086T>CCA361704982SLC26A2n.666T>C
c.434T>C (p.Phe145Ser)
c.107T>C (p.Phe36Ser)
5g.149978086T>GCA361704983SLC26A2n.666T>G
c.434T>G (p.Phe145Cys)
c.107T>G (p.Phe36Cys)
5g.149978087T>ACA361704984SLC26A2n.667T>A
c.435T>A (p.Phe145Leu)
c.108T>A (p.Phe36Leu)
5g.149978087T>CCA447401989SLC26A2n.667T>C
c.435T>C (p.Phe145=)
c.108T>C (p.Phe36=)
5g.149978087T>GCA361704985SLC26A2n.667T>G
c.435T>G (p.Phe145Leu)
c.108T>G (p.Phe36Leu)
5g.149978088T>ACA361704986SLC26A2n.668T>A
c.436T>A (p.Phe146Ile)
c.109T>A (p.Phe37Ile)
5g.149978088T>CCA361704987SLC26A2n.668T>C
c.436T>C (p.Phe146Leu)
c.109T>C (p.Phe37Leu)
5g.149978088T>GCA361704988SLC26A2n.668T>G
c.436T>G (p.Phe146Val)
c.109T>G (p.Phe37Val)
5g.149978089T>ACA361704989SLC26A2n.669T>A
c.437T>A (p.Phe146Tyr)
c.110T>A (p.Phe37Tyr)
5g.149978089T>CCA361704990SLC26A2n.669T>C
c.437T>C (p.Phe146Ser)
c.110T>C (p.Phe37Ser)
5g.149978089T>GCA361704991SLC26A2n.669T>G
c.437T>G (p.Phe146Cys)
c.110T>G (p.Phe37Cys)
5g.149978090T>ACA361704993SLC26A2n.670T>A
c.438T>A (p.Phe146Leu)
c.111T>A (p.Phe37Leu)
5g.149978090T>CCA447401990SLC26A2n.670T>C
c.438T>C (p.Phe146=)
c.111T>C (p.Phe37=)
5g.149978090T>GCA361704992SLC26A2n.670T>G
c.438T>G (p.Phe146Leu)
c.111T>G (p.Phe37Leu)
5g.149978090_149978100delinsTGCCAGCATCACA1590737399SLC26A2n.670_680delinsTGCCAGCATCA
c.438_448delinsTGCCAGCATCA (p.Phe146=)
c.111_121delinsTGCCAGCATCA (p.Phe37=)
5g.149978091G>ACA361704994SLC26A2n.671G>A
c.439G>A (p.Ala147Thr)
c.112G>A (p.Ala38Thr)
5g.149978091G>CCA361704995SLC26A2n.671G>C
c.439G>C (p.Ala147Pro)
c.112G>C (p.Ala38Pro)
5g.149978091G=CA1590737400SLC26A2n.671G=
c.439G= (p.Ala147=)
c.112G= (p.Ala38=)
5g.149978091G>TCA3505248SLC26A2n.671G>T
c.439G>T (p.Ala147Ser)
c.112G>T (p.Ala38Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978091_149978100delCA563955678SLC26A2n.671_680del
c.439_448del (p.Ala147PhefsTer22)
c.112_121del (p.Ala38PhefsTer22)
dbSNP gnomAD v2 gnomAD v4
5g.149978092C>ACA361704996SLC26A2n.672C>A
c.440C>A (p.Ala147Asp)
c.113C>A (p.Ala38Asp)
5g.149978092C>GCA361704997SLC26A2n.672C>G
c.440C>G (p.Ala147Gly)
c.113C>G (p.Ala38Gly)
5g.149978092C>TCA361704998SLC26A2n.672C>T
c.440C>T (p.Ala147Val)
c.113C>T (p.Ala38Val)
gnomAD v4
5g.149978093delCA2578449447SLC26A2n.673del
c.441del (p.Ser148AlafsTer24)
c.114del (p.Ser39AlafsTer24)
5g.149978093C>ACA447401991SLC26A2n.673C>A
c.441C>A (p.Ala147=)
c.114C>A (p.Ala38=)
5g.149978093C>GCA447401992SLC26A2n.673C>G
c.441C>G (p.Ala147=)
c.114C>G (p.Ala38=)
ClinVar
5g.149978093C>TCA447401993SLC26A2n.673C>T
c.441C>T (p.Ala147=)
c.114C>T (p.Ala38=)
5g.149978094A>CCA361704999SLC26A2n.674A>C
c.442A>C (p.Ser148Arg)
c.115A>C (p.Ser39Arg)
5g.149978094A>GCA361705000SLC26A2n.674A>G
c.442A>G (p.Ser148Gly)
c.115A>G (p.Ser39Gly)
gnomAD v4
5g.149978094A>TCA361705001SLC26A2n.674A>T
c.442A>T (p.Ser148Cys)
c.115A>T (p.Ser39Cys)
5g.149978095G>ACA361705002SLC26A2n.675G>A
c.443G>A (p.Ser148Asn)
c.116G>A (p.Ser39Asn)
5g.149978095G>CCA361705003SLC26A2n.675G>C
c.443G>C (p.Ser148Thr)
c.116G>C (p.Ser39Thr)
dbSNP
5g.149978095G=CA1590737401SLC26A2n.675G=
c.443G= (p.Ser148=)
c.116G= (p.Ser39=)
5g.149978095G>TCA361705004SLC26A2n.675G>T
c.443G>T (p.Ser148Ile)
c.116G>T (p.Ser39Ile)
gnomAD v4
5g.149978096C>ACA361705006SLC26A2n.676C>A
c.444C>A (p.Ser148Arg)
c.117C>A (p.Ser39Arg)
5g.149978096C>GCA361705005SLC26A2n.676C>G
c.444C>G (p.Ser148Arg)
c.117C>G (p.Ser39Arg)
5g.149978096C>TCA447401994SLC26A2n.676C>T
c.444C>T (p.Ser148=)
c.117C>T (p.Ser39=)
5g.149978097A>CCA361705007SLC26A2n.677A>C
c.445A>C (p.Ile149Leu)
c.118A>C (p.Ile40Leu)
5g.149978097A>GCA361705008SLC26A2n.677A>G
c.445A>G (p.Ile149Val)
c.118A>G (p.Ile40Val)
5g.149978097A>TCA361705009SLC26A2n.677A>T
c.445A>T (p.Ile149Phe)
c.118A>T (p.Ile40Phe)
5g.149978098T>ACA361705010SLC26A2n.678T>A
c.446T>A (p.Ile149Asn)
c.119T>A (p.Ile40Asn)
5g.149978098T>CCA361705011SLC26A2n.678T>C
c.446T>C (p.Ile149Thr)
c.119T>C (p.Ile40Thr)
dbSNP gnomAD v4
5g.149978098T>GCA361705012SLC26A2n.678T>G
c.446T>G (p.Ile149Ser)
c.119T>G (p.Ile40Ser)
5g.149978098T=CA1590737402SLC26A2n.678T=
c.446T= (p.Ile149=)
c.119T= (p.Ile40=)
5g.149978099C>ACA447401995SLC26A2n.679C>A
c.447C>A (p.Ile149=)
c.120C>A (p.Ile40=)
5g.149978099C=CA1590737403SLC26A2n.679C=
c.447C= (p.Ile149=)
c.120C= (p.Ile40=)
5g.149978099C>GCA361705013SLC26A2n.679C>G
c.447C>G (p.Ile149Met)
c.120C>G (p.Ile40Met)
5g.149978099C>TCA447401996SLC26A2n.679C>T
c.447C>T (p.Ile149=)
c.120C>T (p.Ile40=)
dbSNP gnomAD v4 COSMIC
5g.149978100A=CA1590737404SLC26A2n.680A=
c.448A= (p.Ile150=)
c.121A= (p.Ile41=)
5g.149978100A>CCA361705014SLC26A2n.680A>C
c.448A>C (p.Ile150Leu)
c.121A>C (p.Ile41Leu)
5g.149978100A>GCA3505249SLC26A2n.680A>G
c.448A>G (p.Ile150Val)
c.121A>G (p.Ile41Val)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.149978100A>TCA361705015SLC26A2n.680A>T
c.448A>T (p.Ile150Phe)
c.121A>T (p.Ile41Phe)
5g.149978100_149978101delinsATCA1590737405SLC26A2n.680_681delinsAT
c.448_449delinsAT (p.Ile150=)
c.121_122delinsAT (p.Ile41=)

Number of alleles fetched