Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.149980479A>CCA361706490SLC26A2c.886A>C (p.Asn296His)
c.372+2128A>C (n.372+2128A>C)
5g.149980479A>GCA361706491SLC26A2c.886A>G (p.Asn296Asp)
c.372+2128A>G (n.372+2128A>G)
COSMIC
5g.149980479A>TCA361706492SLC26A2c.886A>T (p.Asn296Tyr)
c.372+2128A>T (n.372+2128A>T)
5g.149980480A>CCA361706493SLC26A2c.887A>C (p.Asn296Thr)
c.372+2129A>C (n.372+2129A>C)
5g.149980480A>GCA361706494SLC26A2c.887A>G (p.Asn296Ser)
c.372+2129A>G (n.372+2129A>G)
5g.149980480A>TCA361706495SLC26A2c.887A>T (p.Asn296Ile)
c.372+2129A>T (n.372+2129A>T)
5g.149980481C>ACA361706496SLC26A2c.888C>A (p.Asn296Lys)
c.372+2130C>A (n.372+2130C>A)
5g.149980481C=CA1590738390SLC26A2c.888C= (p.Asn296=)
c.372+2130C= (n.372+2130C=)
5g.149980481C>GCA361706497SLC26A2c.888C>G (p.Asn296Lys)
c.372+2130C>G (n.372+2130C>G)
5g.149980481C>TCA447402252SLC26A2c.888C>T (p.Asn296=)
c.372+2130C>T (n.372+2130C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149980482A>CCA361706498SLC26A2c.889A>C (p.Ile297Leu)
c.372+2131A>C (n.372+2131A>C)
5g.149980482A>GCA361706499SLC26A2c.889A>G (p.Ile297Val)
c.372+2131A>G (n.372+2131A>G)
5g.149980482A>TCA361706500SLC26A2c.889A>T (p.Ile297Phe)
c.372+2131A>T (n.372+2131A>T)
5g.149980483T>ACA361706503SLC26A2c.890T>A (p.Ile297Asn)
c.372+2132T>A (n.372+2132T>A)
5g.149980483T>CCA361706502SLC26A2c.890T>C (p.Ile297Thr)
c.372+2132T>C (n.372+2132T>C)
dbSNP gnomAD v4
5g.149980483T>GCA361706501SLC26A2c.890T>G (p.Ile297Ser)
c.372+2132T>G (n.372+2132T>G)
5g.149980483T=CA1590738391SLC26A2c.890T= (p.Ile297=)
c.372+2132T= (n.372+2132T=)
5g.149980484C>ACA447402257SLC26A2c.891C>A (p.Ile297=)
c.372+2133C>A (n.372+2133C>A)
5g.149980484C>GCA361706504SLC26A2c.891C>G (p.Ile297Met)
c.372+2133C>G (n.372+2133C>G)
5g.149980484C>TCA447402258SLC26A2c.891C>T (p.Ile297=)
c.372+2133C>T (n.372+2133C>T)
COSMIC
5g.149980485delCA2695198772SLC26A2c.892del (p.His298IlefsTer?)
c.372+2134del (n.372+2134del)
ClinVar
5g.149980485C>ACA129083884SLC26A2c.892C>A (p.His298Asn)
c.372+2134C>A (n.372+2134C>A)
ClinVar dbSNP gnomAD v4
5g.149980485C=CA1590738392SLC26A2c.892C= (p.His298=)
c.372+2134C= (n.372+2134C=)
5g.149980485C>GCA361706505SLC26A2c.892C>G (p.His298Asp)
c.372+2134C>G (n.372+2134C>G)
5g.149980485C>TCA129083889SLC26A2c.892C>T (p.His298Tyr)
c.372+2134C>T (n.372+2134C>T)
dbSNP COSMIC
5g.149980486A=CA1590738393SLC26A2c.893A= (p.His298=)
c.372+2135A= (n.372+2135A=)
5g.149980486A>CCA361706506SLC26A2c.893A>C (p.His298Pro)
c.372+2135A>C (n.372+2135A>C)
5g.149980486A>GCA3505349SLC26A2c.893A>G (p.His298Arg)
c.372+2135A>G (n.372+2135A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149980486A>TCA361706507SLC26A2c.893A>T (p.His298Leu)
c.372+2135A>T (n.372+2135A>T)
5g.149980487T>ACA361706508SLC26A2c.894T>A (p.His298Gln)
c.372+2136T>A (n.372+2136T>A)
5g.149980487T>CCA447402260SLC26A2c.894T>C (p.His298=)
c.372+2136T>C (n.372+2136T>C)
dbSNP gnomAD v3 gnomAD v4
5g.149980487T>GCA361706509SLC26A2c.894T>G (p.His298Gln)
c.372+2136T>G (n.372+2136T>G)
gnomAD v4
5g.149980487T=CA1590738395SLC26A2c.894T= (p.His298=)
c.372+2136T= (n.372+2136T=)
5g.149980487_149980488delinsTACA1590738394SLC26A2c.894_895delinsTA (p.His298=)
c.372+2136_372+2137delinsTA (n.372+2136_372+2137delinsTA)
5g.149980488A>CCA361706510SLC26A2c.895A>C (p.Lys299Gln)
c.372+2137A>C (n.372+2137A>C)
5g.149980488A>GCA361706511SLC26A2c.895A>G (p.Lys299Glu)
c.372+2137A>G (n.372+2137A>G)
ClinVar
5g.149980488A>TCA361706512SLC26A2c.895A>T (p.Lys299Ter)
c.372+2137A>T (n.372+2137A>T)
5g.149980489delCA563955701SLC26A2c.896del (p.Lys299ArgfsTer?)
c.372+2138del (n.372+2138del)
dbSNP gnomAD v2 gnomAD v4
5g.149980489A>CCA361706515SLC26A2c.896A>C (p.Lys299Thr)
c.372+2138A>C (n.372+2138A>C)
5g.149980489A>GCA361706513SLC26A2c.896A>G (p.Lys299Arg)
c.372+2138A>G (n.372+2138A>G)
gnomAD v4
5g.149980489A>TCA361706514SLC26A2c.896A>T (p.Lys299Met)
c.372+2138A>T (n.372+2138A>T)
5g.149980490G>ACA3505350SLC26A2c.897G>A (p.Lys299=)
c.372+2139G>A (n.372+2139G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149980490G>CCA361706516SLC26A2c.897G>C (p.Lys299Asn)
c.372+2139G>C (n.372+2139G>C)
5g.149980490G=CA1590738396SLC26A2c.897G= (p.Lys299=)
c.372+2139G= (n.372+2139G=)
5g.149980490G>TCA129083906SLC26A2c.897G>T (p.Lys299Asn)
c.372+2139G>T (n.372+2139G>T)
dbSNP gnomAD v4
5g.149980491A>CCA361706517SLC26A2c.898A>C (p.Thr300Pro)
c.372+2140A>C (n.372+2140A>C)
5g.149980491A>GCA361706518SLC26A2c.898A>G (p.Thr300Ala)
c.372+2140A>G (n.372+2140A>G)
5g.149980491A>TCA361706519SLC26A2c.898A>T (p.Thr300Ser)
c.372+2140A>T (n.372+2140A>T)
5g.149980492C>ACA361706520SLC26A2c.899C>A (p.Thr300Asn)
c.372+2141C>A (n.372+2141C>A)
5g.149980492C>GCA361706521SLC26A2c.899C>G (p.Thr300Ser)
c.372+2141C>G (n.372+2141C>G)
5g.149980492C>TCA361706522SLC26A2c.899C>T (p.Thr300Ile)
c.372+2141C>T (n.372+2141C>T)
COSMIC
5g.149980493C>ACA447402267SLC26A2c.900C>A (p.Thr300=)
c.372+2142C>A (n.372+2142C>A)
5g.149980493C>GCA447402268SLC26A2c.900C>G (p.Thr300=)
c.372+2142C>G (n.372+2142C>G)
5g.149980493C>TCA447402269SLC26A2c.900C>T (p.Thr300=)
c.372+2142C>T (n.372+2142C>T)
5g.149980494A=CA1590738397SLC26A2c.901A= (p.Asn301=)
c.372+2143A= (n.372+2143A=)
5g.149980494A>CCA3505351SLC26A2c.901A>C (p.Asn301His)
c.372+2143A>C (n.372+2143A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.149980494A>GCA361706523SLC26A2c.901A>G (p.Asn301Asp)
c.372+2143A>G (n.372+2143A>G)
dbSNP gnomAD v3 gnomAD v4
5g.149980494A>TCA361706524SLC26A2c.901A>T (p.Asn301Tyr)
c.372+2143A>T (n.372+2143A>T)
5g.149980495A=CA1590738398SLC26A2c.902A= (p.Asn301=)
c.372+2144A= (n.372+2144A=)
5g.149980495A>CCA361706526SLC26A2c.902A>C (p.Asn301Thr)
c.372+2144A>C (n.372+2144A>C)
5g.149980495A>GCA3505352SLC26A2c.902A>G (p.Asn301Ser)
c.372+2144A>G (n.372+2144A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.149980495A>TCA361706525SLC26A2c.902A>T (p.Asn301Ile)
c.372+2144A>T (n.372+2144A>T)
5g.149980495_149980497delinsATCCA1590738399SLC26A2c.902_904delinsATC (p.Asn301=)
c.372+2144_372+2146delinsATC (n.372+2144_372+2146delinsATC)
5g.149980496T>ACA361706527SLC26A2c.903T>A (p.Asn301Lys)
c.372+2145T>A (n.372+2145T>A)
5g.149980496T>CCA3505353SLC26A2c.903T>C (p.Asn301=)
c.372+2145T>C (n.372+2145T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149980496T>GCA361706528SLC26A2c.903T>G (p.Asn301Lys)
c.372+2145T>G (n.372+2145T>G)
dbSNP gnomAD v2 gnomAD v4
5g.149980496T=CA1590738400SLC26A2c.903T= (p.Asn301=)
c.372+2145T= (n.372+2145T=)
5g.149980499_149980500delCA263277SLC26A2c.906_907del (p.Cys303Ter)
c.372+2148_372+2149del (n.372+2148_372+2149del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.149980497C>ACA361706529SLC26A2c.904C>A (p.Leu302Ile)
c.372+2146C>A (n.372+2146C>A)
dbSNP
5g.149980497C=CA1590738401SLC26A2c.904C= (p.Leu302=)
c.372+2146C= (n.372+2146C=)
5g.149980497C>GCA361706530SLC26A2c.904C>G (p.Leu302Val)
c.372+2146C>G (n.372+2146C>G)
gnomAD v4
5g.149980497C>TCA361706531SLC26A2c.904C>T (p.Leu302Phe)
c.372+2146C>T (n.372+2146C>T)
COSMIC
5g.149980498T>ACA361706532SLC26A2c.905T>A (p.Leu302His)
c.372+2147T>A (n.372+2147T>A)
5g.149980498T>CCA361706534SLC26A2c.905T>C (p.Leu302Pro)
c.372+2147T>C (n.372+2147T>C)
5g.149980498T>GCA361706533SLC26A2c.905T>G (p.Leu302Arg)
c.372+2147T>G (n.372+2147T>G)
5g.149980499C>ACA447402275SLC26A2c.906C>A (p.Leu302=)
c.372+2148C>A (n.372+2148C>A)
5g.149980499C>GCA447402276SLC26A2c.906C>G (p.Leu302=)
c.372+2148C>G (n.372+2148C>G)
5g.149980499C>TCA447402277SLC26A2c.906C>T (p.Leu302=)
c.372+2148C>T (n.372+2148C>T)
5g.149980500T>ACA361706535SLC26A2c.907T>A (p.Cys303Ser)
c.372+2149T>A (n.372+2149T>A)
5g.149980500T>CCA361706536SLC26A2c.907T>C (p.Cys303Arg)
c.372+2149T>C (n.372+2149T>C)
5g.149980500T>GCA361706537SLC26A2c.907T>G (p.Cys303Gly)
c.372+2149T>G (n.372+2149T>G)
5g.149980501G>ACA361706540SLC26A2c.908G>A (p.Cys303Tyr)
c.372+2150G>A (n.372+2150G>A)
5g.149980501G>CCA361706538SLC26A2c.908G>C (p.Cys303Ser)
c.372+2150G>C (n.372+2150G>C)
5g.149980501G>TCA361706539SLC26A2c.908G>T (p.Cys303Phe)
c.372+2150G>T (n.372+2150G>T)
5g.149980502T>ACA361706541SLC26A2c.909T>A (p.Cys303Ter)
c.372+2151T>A (n.372+2151T>A)
ClinVar dbSNP
5g.149980502T>CCA447402279SLC26A2c.909T>C (p.Cys303=)
c.372+2151T>C (n.372+2151T>C)
5g.149980502T>GCA361706542SLC26A2c.909T>G (p.Cys303Trp)
c.372+2151T>G (n.372+2151T>G)
5g.149980502T=CA1590738402SLC26A2c.909T= (p.Cys303=)
c.372+2151T= (n.372+2151T=)
5g.149980503G>ACA361706543SLC26A2c.910G>A (p.Asp304Asn)
c.372+2152G>A (n.372+2152G>A)
COSMIC
5g.149980503G>CCA361706544SLC26A2c.910G>C (p.Asp304His)
c.372+2152G>C (n.372+2152G>C)
5g.149980503G>TCA361706545SLC26A2c.910G>T (p.Asp304Tyr)
c.372+2152G>T (n.372+2152G>T)
5g.149980504A>CCA361706546SLC26A2c.911A>C (p.Asp304Ala)
c.372+2153A>C (n.372+2153A>C)
5g.149980504A>GCA361706547SLC26A2c.911A>G (p.Asp304Gly)
c.372+2153A>G (n.372+2153A>G)
5g.149980504A>TCA361706548SLC26A2c.911A>T (p.Asp304Val)
c.372+2153A>T (n.372+2153A>T)
5g.149980505T>ACA361706549SLC26A2c.912T>A (p.Asp304Glu)
c.372+2154T>A (n.372+2154T>A)
5g.149980505T>CCA447402283SLC26A2c.912T>C (p.Asp304=)
c.372+2154T>C (n.372+2154T>C)
5g.149980505T>GCA361706550SLC26A2c.912T>G (p.Asp304Glu)
c.372+2154T>G (n.372+2154T>G)
5g.149980506C>ACA361706551SLC26A2c.913C>A (p.Leu305Ile)
c.372+2155C>A (n.372+2155C>A)
5g.149980506C=CA1590738403SLC26A2c.913C= (p.Leu305=)
c.372+2155C= (n.372+2155C=)
5g.149980506C>GCA361706552SLC26A2c.913C>G (p.Leu305Val)
c.372+2155C>G (n.372+2155C>G)
5g.149980506C>TCA361706553SLC26A2c.913C>T (p.Leu305Phe)
c.372+2155C>T (n.372+2155C>T)
dbSNP gnomAD v3 gnomAD v4
5g.149980507T>ACA361706554SLC26A2c.914T>A (p.Leu305His)
c.372+2156T>A (n.372+2156T>A)
5g.149980507T>CCA361706556SLC26A2c.914T>C (p.Leu305Pro)
c.372+2156T>C (n.372+2156T>C)
5g.149980507T>GCA361706555SLC26A2c.914T>G (p.Leu305Arg)
c.372+2156T>G (n.372+2156T>G)
5g.149980509_149980522dupCA563955702SLC26A2c.916_929dup (p.Cys311SerfsTer?)
c.372+2158_372+2171dup (n.372+2158_372+2171dup)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.149980508T>ACA447402284SLC26A2c.915T>A (p.Leu305=)
c.372+2157T>A (n.372+2157T>A)
5g.149980508T>CCA447402285SLC26A2c.915T>C (p.Leu305=)
c.372+2157T>C (n.372+2157T>C)
5g.149980508T>GCA447402286SLC26A2c.915T>G (p.Leu305=)
c.372+2157T>G (n.372+2157T>G)
5g.149980509A=CA1590738404SLC26A2c.916A= (p.Ile306=)
c.372+2158A= (n.372+2158A=)
5g.149980509A>CCA361706557SLC26A2c.916A>C (p.Ile306Leu)
c.372+2158A>C (n.372+2158A>C)
5g.149980509A>GCA361706558SLC26A2c.916A>G (p.Ile306Val)
c.372+2158A>G (n.372+2158A>G)
5g.149980509A>TCA361706559SLC26A2c.916A>T (p.Ile306Phe)
c.372+2158A>T (n.372+2158A>T)
dbSNP gnomAD v2 gnomAD v4
5g.149980510T>ACA361706560SLC26A2c.917T>A (p.Ile306Asn)
c.372+2159T>A (n.372+2159T>A)
5g.149980510T>CCA361706561SLC26A2c.917T>C (p.Ile306Thr)
c.372+2159T>C (n.372+2159T>C)
dbSNP gnomAD v4
5g.149980510T>GCA361706562SLC26A2c.917T>G (p.Ile306Ser)
c.372+2159T>G (n.372+2159T>G)
5g.149980510T=CA1590738406SLC26A2c.917T= (p.Ile306=)
c.372+2159T= (n.372+2159T=)
5g.149980510_149980511delinsTCCA1590738405SLC26A2c.917_918delinsTC (p.Ile306=)
c.372+2159_372+2160delinsTC (n.372+2159_372+2160delinsTC)
5g.149980511delCA16040992SLC26A2c.918del (p.Thr307ProfsTer?)
c.372+2160del (n.372+2160del)
ClinVar dbSNP
5g.149980511C>ACA447402287SLC26A2c.918C>A (p.Ile306=)
c.372+2160C>A (n.372+2160C>A)
5g.149980511C>GCA361706563SLC26A2c.918C>G (p.Ile306Met)
c.372+2160C>G (n.372+2160C>G)
5g.149980511C>TCA447402289SLC26A2c.918C>T (p.Ile306=)
c.372+2160C>T (n.372+2160C>T)
gnomAD v4
5g.149980512A>CCA361706564SLC26A2c.919A>C (p.Thr307Pro)
c.372+2161A>C (n.372+2161A>C)
5g.149980512A>GCA361706565SLC26A2c.919A>G (p.Thr307Ala)
c.372+2161A>G (n.372+2161A>G)
gnomAD v4
5g.149980512A>TCA361706566SLC26A2c.919A>T (p.Thr307Ser)
c.372+2161A>T (n.372+2161A>T)
5g.149980513C>ACA361706567SLC26A2c.920C>A (p.Thr307Asn)
c.372+2162C>A (n.372+2162C>A)
5g.149980513C>GCA361706568SLC26A2c.920C>G (p.Thr307Ser)
c.372+2162C>G (n.372+2162C>G)
5g.149980513C>TCA361706569SLC26A2c.920C>T (p.Thr307Ile)
c.372+2162C>T (n.372+2162C>T)
5g.149980514C>ACA447402293SLC26A2c.921C>A (p.Thr307=)
c.372+2163C>A (n.372+2163C>A)
5g.149980514C>GCA447402292SLC26A2c.921C>G (p.Thr307=)
c.372+2163C>G (n.372+2163C>G)
5g.149980514C>TCA447402291SLC26A2c.921C>T (p.Thr307=)
c.372+2163C>T (n.372+2163C>T)
5g.149980514_149980515delinsCACA1590738407SLC26A2c.921_922delinsCA (p.Thr307=)
c.372+2163_372+2164delinsCA (n.372+2163_372+2164delinsCA)
5g.149980515delCA16040993SLC26A2c.922del (p.Ser308AlafsTer?)
c.372+2164del (n.372+2164del)
ClinVar dbSNP
5g.149980515A>CCA361706570SLC26A2c.922A>C (p.Ser308Arg)
c.372+2164A>C (n.372+2164A>C)
COSMIC
5g.149980515A>GCA361706572SLC26A2c.922A>G (p.Ser308Gly)
c.372+2164A>G (n.372+2164A>G)
5g.149980515A>TCA361706571SLC26A2c.922A>T (p.Ser308Cys)
c.372+2164A>T (n.372+2164A>T)
5g.149980516G>ACA361706573SLC26A2c.923G>A (p.Ser308Asn)
c.372+2165G>A (n.372+2165G>A)
dbSNP gnomAD v2 gnomAD v4
5g.149980516G>CCA361706574SLC26A2c.923G>C (p.Ser308Thr)
c.372+2165G>C (n.372+2165G>C)
5g.149980516G=CA1590738409SLC26A2c.923G= (p.Ser308=)
c.372+2165G= (n.372+2165G=)
5g.149980516G>TCA361706575SLC26A2c.923G>T (p.Ser308Ile)
c.372+2165G>T (n.372+2165G>T)
5g.149980516_149980517delCA913108447SLC26A2c.923_924del (p.Ser308ThrfsTer15)
c.372+2165_372+2166del (n.372+2165_372+2166del)
5g.149980516_149980517delinsGCCA1590738408SLC26A2c.923_924delinsGC (p.Ser308=)
c.372+2165_372+2166delinsGC (n.372+2165_372+2166delinsGC)
5g.149980517C>ACA3505354SLC26A2c.924C>A (p.Ser308Arg)
c.372+2166C>A (n.372+2166C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.149980517C=CA1590738410SLC26A2c.924C= (p.Ser308=)
c.372+2166C= (n.372+2166C=)
5g.149980517C>GCA361706576SLC26A2c.924C>G (p.Ser308Arg)
c.372+2166C>G (n.372+2166C>G)
ClinVar dbSNP gnomAD v4
5g.149980517C>TCA447402295SLC26A2c.924C>T (p.Ser308=)
c.372+2166C>T (n.372+2166C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.149980518delCA658822217SLC26A2c.925del (p.Leu309PhefsTer?)
c.372+2167del (n.372+2167del)
ClinVar dbSNP
5g.149980518C>ACA361706577SLC26A2c.925C>A (p.Leu309Ile)
c.372+2167C>A (n.372+2167C>A)
5g.149980518C=CA1590738411SLC26A2c.925C= (p.Leu309=)
c.372+2167C= (n.372+2167C=)
5g.149980518C>GCA361706578SLC26A2c.925C>G (p.Leu309Val)
c.372+2167C>G (n.372+2167C>G)
5g.149980518C>TCA129083951SLC26A2c.925C>T (p.Leu309Phe)
c.372+2167C>T (n.372+2167C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.149980519T>ACA361706579SLC26A2c.926T>A (p.Leu309His)
c.372+2168T>A (n.372+2168T>A)
5g.149980519T>CCA361706580SLC26A2c.926T>C (p.Leu309Pro)
c.372+2168T>C (n.372+2168T>C)
gnomAD v4
5g.149980519T>GCA361706581SLC26A2c.926T>G (p.Leu309Arg)
c.372+2168T>G (n.372+2168T>G)
5g.149980520T>ACA447402297SLC26A2c.927T>A (p.Leu309=)
c.372+2169T>A (n.372+2169T>A)
5g.149980520T>CCA447402298SLC26A2c.927T>C (p.Leu309=)
c.372+2169T>C (n.372+2169T>C)
5g.149980520T>GCA447402299SLC26A2c.927T>G (p.Leu309=)
c.372+2169T>G (n.372+2169T>G)
5g.149980521T>ACA361706583SLC26A2c.928T>A (p.Leu310Met)
c.372+2170T>A (n.372+2170T>A)
5g.149980521T>CCA447402300SLC26A2c.928T>C (p.Leu310=)
c.372+2170T>C (n.372+2170T>C)
5g.149980521T>GCA361706582SLC26A2c.928T>G (p.Leu310Val)
c.372+2170T>G (n.372+2170T>G)
5g.149980522T>ACA361706584SLC26A2c.929T>A (p.Leu310Ter)
c.372+2171T>A (n.372+2171T>A)
5g.149980522T>CCA361706586SLC26A2c.929T>C (p.Leu310Ser)
c.372+2171T>C (n.372+2171T>C)
5g.149980522T>GCA361706585SLC26A2c.929T>G (p.Leu310Trp)
c.372+2171T>G (n.372+2171T>G)
5g.149980523G>ACA447402304SLC26A2c.930G>A (p.Leu310=)
c.372+2172G>A (n.372+2172G>A)
gnomAD v4
5g.149980523G>CCA361706587SLC26A2c.930G>C (p.Leu310Phe)
c.372+2172G>C (n.372+2172G>C)
5g.149980523G>TCA361706588SLC26A2c.930G>T (p.Leu310Phe)
c.372+2172G>T (n.372+2172G>T)
5g.149980524T>ACA361706589SLC26A2c.931T>A (p.Cys311Ser)
c.372+2173T>A (n.372+2173T>A)
5g.149980524T>CCA3505355SLC26A2c.931T>C (p.Cys311Arg)
c.372+2173T>C (n.372+2173T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.149980524T>GCA361706590SLC26A2c.931T>G (p.Cys311Gly)
c.372+2173T>G (n.372+2173T>G)
dbSNP
5g.149980524T=CA1590738412SLC26A2c.931T= (p.Cys311=)
c.372+2173T= (n.372+2173T=)
5g.149980525G>ACA361706591SLC26A2c.932G>A (p.Cys311Tyr)
c.372+2174G>A (n.372+2174G>A)
gnomAD v4
5g.149980525G>CCA361706592SLC26A2c.932G>C (p.Cys311Ser)
c.372+2174G>C (n.372+2174G>C)
5g.149980525G>TCA361706593SLC26A2c.932G>T (p.Cys311Phe)
c.372+2174G>T (n.372+2174G>T)
5g.149980526C>ACA361706594SLC26A2c.933C>A (p.Cys311Ter)
c.372+2175C>A (n.372+2175C>A)
5g.149980526C=CA1590738413SLC26A2c.933C= (p.Cys311=)
c.372+2175C= (n.372+2175C=)
5g.149980526C>GCA361706595SLC26A2c.933C>G (p.Cys311Trp)
c.372+2175C>G (n.372+2175C>G)
5g.149980526C>TCA3505356SLC26A2c.933C>T (p.Cys311=)
c.372+2175C>T (n.372+2175C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149980527C>ACA361706598SLC26A2c.934C>A (p.Leu312Ile)
c.372+2176C>A (n.372+2176C>A)
5g.149980527C>GCA361706596SLC26A2c.934C>G (p.Leu312Val)
c.372+2176C>G (n.372+2176C>G)
5g.149980527C>TCA361706597SLC26A2c.934C>T (p.Leu312Phe)
c.372+2176C>T (n.372+2176C>T)
gnomAD v4
5g.149980528T>ACA361706599SLC26A2c.935T>A (p.Leu312His)
c.372+2177T>A (n.372+2177T>A)
5g.149980528T>CCA361706600SLC26A2c.935T>C (p.Leu312Pro)
c.372+2177T>C (n.372+2177T>C)
5g.149980528T>GCA361706601SLC26A2c.935T>G (p.Leu312Arg)
c.372+2177T>G (n.372+2177T>G)
5g.149980529T>ACA447402308SLC26A2c.936T>A (p.Leu312=)
c.372+2178T>A (n.372+2178T>A)
5g.149980529T>CCA447402309SLC26A2c.936T>C (p.Leu312=)
c.372+2178T>C (n.372+2178T>C)
5g.149980529T>GCA447402310SLC26A2c.936T>G (p.Leu312=)
c.372+2178T>G (n.372+2178T>G)
5g.149980530T>ACA361706602SLC26A2c.937T>A (p.Leu313Met)
c.372+2179T>A (n.372+2179T>A)
5g.149980530T>CCA447402311SLC26A2c.937T>C (p.Leu313=)
c.372+2179T>C (n.372+2179T>C)
5g.149980530T>GCA361706603SLC26A2c.937T>G (p.Leu313Val)
c.372+2179T>G (n.372+2179T>G)
5g.149980531T>ACA361706604SLC26A2c.938T>A (p.Leu313Ter)
c.372+2180T>A (n.372+2180T>A)
5g.149980531T>CCA361706606SLC26A2c.938T>C (p.Leu313Ser)
c.372+2180T>C (n.372+2180T>C)
5g.149980531T>GCA361706605SLC26A2c.938T>G (p.Leu313Trp)
c.372+2180T>G (n.372+2180T>G)
5g.149980532G>ACA447402314SLC26A2c.939G>A (p.Leu313=)
c.372+2181G>A (n.372+2181G>A)
gnomAD v4
5g.149980532G>CCA361706607SLC26A2c.939G>C (p.Leu313Phe)
c.372+2181G>C (n.372+2181G>C)
5g.149980532G=CA1590738414SLC26A2c.939G= (p.Leu313=)
c.372+2181G= (n.372+2181G=)
5g.149980532G>TCA361706608SLC26A2c.939G>T (p.Leu313Phe)
c.372+2181G>T (n.372+2181G>T)
dbSNP
5g.149980533G>ACA3505357SLC26A2c.940G>A (p.Val314Ile)
c.372+2182G>A (n.372+2182G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.149980533G>CCA361706609SLC26A2c.940G>C (p.Val314Leu)
c.372+2182G>C (n.372+2182G>C)
5g.149980533G=CA1590738415SLC26A2c.940G= (p.Val314=)
c.372+2182G= (n.372+2182G=)
5g.149980533G>TCA361706610SLC26A2c.940G>T (p.Val314Phe)
c.372+2182G>T (n.372+2182G>T)
5g.149980534T>ACA361706611SLC26A2c.941T>A (p.Val314Asp)
c.372+2183T>A (n.372+2183T>A)
5g.149980534T>CCA361706612SLC26A2c.941T>C (p.Val314Ala)
c.372+2183T>C (n.372+2183T>C)
5g.149980534T>GCA361706613SLC26A2c.941T>G (p.Val314Gly)
c.372+2183T>G (n.372+2183T>G)
5g.149980535T>ACA447402321SLC26A2c.942T>A (p.Val314=)
c.372+2184T>A (n.372+2184T>A)
5g.149980535T>CCA447402320SLC26A2c.942T>C (p.Val314=)
c.372+2184T>C (n.372+2184T>C)
5g.149980535T>GCA447402319SLC26A2c.942T>G (p.Val314=)
c.372+2184T>G (n.372+2184T>G)
5g.149980536C>ACA3505358SLC26A2c.943C>A (p.Leu315Ile)
c.372+2185C>A (n.372+2185C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149980536C=CA1590738416SLC26A2c.943C= (p.Leu315=)
c.372+2185C= (n.372+2185C=)
5g.149980536C>GCA361706614SLC26A2c.943C>G (p.Leu315Val)
c.372+2185C>G (n.372+2185C>G)
5g.149980536C>TCA361706615SLC26A2c.943C>T (p.Leu315Phe)
c.372+2185C>T (n.372+2185C>T)
5g.149980537T>ACA361706616SLC26A2c.944T>A (p.Leu315His)
c.372+2186T>A (n.372+2186T>A)
5g.149980537T>CCA3505359SLC26A2c.944T>C (p.Leu315Pro)
c.372+2186T>C (n.372+2186T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149980537T>GCA361706617SLC26A2c.944T>G (p.Leu315Arg)
c.372+2186T>G (n.372+2186T>G)
gnomAD v4
5g.149980537T=CA1590738417SLC26A2c.944T= (p.Leu315=)
c.372+2186T= (n.372+2186T=)
5g.149980540delCA2675943642SLC26A2c.947del (p.Leu316CysfsTer26)
c.372+2189del (n.372+2189del)
gnomAD v4
5g.149980538T>ACA447402325SLC26A2c.945T>A (p.Leu315=)
c.372+2187T>A (n.372+2187T>A)
5g.149980538T>CCA447402324SLC26A2c.945T>C (p.Leu315=)
c.372+2187T>C (n.372+2187T>C)
5g.149980538T>GCA447402323SLC26A2c.945T>G (p.Leu315=)
c.372+2187T>G (n.372+2187T>G)
5g.149980539T>ACA361706618SLC26A2c.946T>A (p.Leu316Met)
c.372+2188T>A (n.372+2188T>A)
5g.149980539T>CCA447402326SLC26A2c.946T>C (p.Leu316=)
c.372+2188T>C (n.372+2188T>C)
5g.149980539T>GCA361706619SLC26A2c.946T>G (p.Leu316Val)
c.372+2188T>G (n.372+2188T>G)
5g.149980540T>ACA361706620SLC26A2c.947T>A (p.Leu316Ter)
c.372+2189T>A (n.372+2189T>A)
5g.149980540T>CCA361706621SLC26A2c.947T>C (p.Leu316Ser)
c.372+2189T>C (n.372+2189T>C)
gnomAD v4
5g.149980540T>GCA361706622SLC26A2c.947T>G (p.Leu316Trp)
c.372+2189T>G (n.372+2189T>G)
5g.149980541G>ACA447402329SLC26A2c.948G>A (p.Leu316=)
c.372+2190G>A (n.372+2190G>A)
5g.149980541G>CCA361706623SLC26A2c.948G>C (p.Leu316Phe)
c.372+2190G>C (n.372+2190G>C)
dbSNP
5g.149980541G>TCA361706624SLC26A2c.948G>T (p.Leu316Phe)
c.372+2190G>T (n.372+2190G>T)
5g.149980542C>ACA129083988SLC26A2c.949C>A (p.Pro317Thr)
c.372+2191C>A (n.372+2191C>A)
dbSNP
5g.149980542C=CA1590738418SLC26A2c.949C= (p.Pro317=)
c.372+2191C= (n.372+2191C=)
5g.149980542C>GCA361706625SLC26A2c.949C>G (p.Pro317Ala)
c.372+2191C>G (n.372+2191C>G)
5g.149980542C>TCA361706626SLC26A2c.949C>T (p.Pro317Ser)
c.372+2191C>T (n.372+2191C>T)
5g.149980543C>ACA361706629SLC26A2c.950C>A (p.Pro317Gln)
c.372+2192C>A (n.372+2192C>A)
5g.149980543C=CA1590738419SLC26A2c.950C= (p.Pro317=)
c.372+2192C= (n.372+2192C=)
5g.149980543C>GCA361706628SLC26A2c.950C>G (p.Pro317Arg)
c.372+2192C>G (n.372+2192C>G)
5g.149980543C>TCA361706627SLC26A2c.950C>T (p.Pro317Leu)
c.372+2192C>T (n.372+2192C>T)
dbSNP gnomAD v2 gnomAD v4
5g.149980544A>CCA447402332SLC26A2c.951A>C (p.Pro317=)
c.372+2193A>C (n.372+2193A>C)
5g.149980544A>GCA447402334SLC26A2c.951A>G (p.Pro317=)
c.372+2193A>G (n.372+2193A>G)
ClinVar
5g.149980544A>TCA447402335SLC26A2c.951A>T (p.Pro317=)
c.372+2193A>T (n.372+2193A>T)
5g.149980545A>CCA361706630SLC26A2c.952A>C (p.Thr318Pro)
c.372+2194A>C (n.372+2194A>C)
5g.149980545A>GCA361706631SLC26A2c.952A>G (p.Thr318Ala)
c.372+2194A>G (n.372+2194A>G)
5g.149980545A>TCA361706632SLC26A2c.952A>T (p.Thr318Ser)
c.372+2194A>T (n.372+2194A>T)
5g.149980546C>ACA361706633SLC26A2c.953C>A (p.Thr318Asn)
c.372+2195C>A (n.372+2195C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149980546C=CA1590738420SLC26A2c.953C= (p.Thr318=)
c.372+2195C= (n.372+2195C=)
5g.149980546C>GCA361706634SLC26A2c.953C>G (p.Thr318Ser)
c.372+2195C>G (n.372+2195C>G)
5g.149980546C>TCA361706635SLC26A2c.953C>T (p.Thr318Ile)
c.372+2195C>T (n.372+2195C>T)
ClinVar gnomAD v4
5g.149980547C>ACA447402336SLC26A2c.954C>A (p.Thr318=)
c.372+2196C>A (n.372+2196C>A)
5g.149980547C>GCA447402338SLC26A2c.954C>G (p.Thr318=)
c.372+2196C>G (n.372+2196C>G)
5g.149980547C>TCA447402340SLC26A2c.954C>T (p.Thr318=)
c.372+2196C>T (n.372+2196C>T)
5g.149980548A=CA1590738421SLC26A2c.955A= (p.Lys319=)
c.372+2197A= (n.372+2197A=)
5g.149980548A>CCA361706636SLC26A2c.955A>C (p.Lys319Gln)
c.372+2197A>C (n.372+2197A>C)
5g.149980548A>GCA361706637SLC26A2c.955A>G (p.Lys319Glu)
c.372+2197A>G (n.372+2197A>G)
dbSNP
5g.149980548A>TCA361706638SLC26A2c.955A>T (p.Lys319Ter)
c.372+2197A>T (n.372+2197A>T)
5g.149980549A=CA1590738422SLC26A2c.956A= (p.Lys319=)
c.372+2198A= (n.372+2198A=)
5g.149980549A>CCA361706639SLC26A2c.956A>C (p.Lys319Thr)
c.372+2198A>C (n.372+2198A>C)
5g.149980549A>GCA3505360SLC26A2c.956A>G (p.Lys319Arg)
c.372+2198A>G (n.372+2198A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149980549A>TCA361706640SLC26A2c.956A>T (p.Lys319Ile)
c.372+2198A>T (n.372+2198A>T)
5g.149980550A>CCA361706642SLC26A2c.957A>C (p.Lys319Asn)
c.372+2199A>C (n.372+2199A>C)
5g.149980550A>GCA447402342SLC26A2c.957A>G (p.Lys319=)
c.372+2199A>G (n.372+2199A>G)
5g.149980550A>TCA361706641SLC26A2c.957A>T (p.Lys319Asn)
c.372+2199A>T (n.372+2199A>T)
5g.149980551G>ACA361706643SLC26A2c.958G>A (p.Glu320Lys)
c.372+2200G>A (n.372+2200G>A)
5g.149980551G>CCA361706644SLC26A2c.958G>C (p.Glu320Gln)
c.372+2200G>C (n.372+2200G>C)
5g.149980551G>TCA361706645SLC26A2c.958G>T (p.Glu320Ter)
c.372+2200G>T (n.372+2200G>T)
COSMIC
5g.149980552A>CCA361706646SLC26A2c.959A>C (p.Glu320Ala)
c.372+2201A>C (n.372+2201A>C)
5g.149980552A>GCA361706647SLC26A2c.959A>G (p.Glu320Gly)
c.372+2201A>G (n.372+2201A>G)
5g.149980552A>TCA361706648SLC26A2c.959A>T (p.Glu320Val)
c.372+2201A>T (n.372+2201A>T)
5g.149980553A>CCA361706650SLC26A2c.960A>C (p.Glu320Asp)
c.372+2202A>C (n.372+2202A>C)
5g.149980553A>GCA447402345SLC26A2c.960A>G (p.Glu320=)
c.372+2202A>G (n.372+2202A>G)
5g.149980553A>TCA361706649SLC26A2c.960A>T (p.Glu320Asp)
c.372+2202A>T (n.372+2202A>T)
gnomAD v4
5g.149980554delCA2740094146SLC26A2c.961del (p.Leu321SerfsTer21)
c.372+2203del (n.372+2203del)
ClinVar
5g.149980554C>ACA361706651SLC26A2c.961C>A (p.Leu321Ile)
c.372+2203C>A (n.372+2203C>A)
5g.149980554C>GCA361706652SLC26A2c.961C>G (p.Leu321Val)
c.372+2203C>G (n.372+2203C>G)
5g.149980554C>TCA361706653SLC26A2c.961C>T (p.Leu321Phe)
c.372+2203C>T (n.372+2203C>T)
5g.149980555T>ACA361706654SLC26A2c.962T>A (p.Leu321His)
c.372+2204T>A (n.372+2204T>A)
5g.149980555T>CCA361706655SLC26A2c.962T>C (p.Leu321Pro)
c.372+2204T>C (n.372+2204T>C)
gnomAD v4
5g.149980555T>GCA361706656SLC26A2c.962T>G (p.Leu321Arg)
c.372+2204T>G (n.372+2204T>G)
gnomAD v4
5g.149980556C>ACA447402347SLC26A2c.963C>A (p.Leu321=)
c.372+2205C>A (n.372+2205C>A)
5g.149980556C>GCA447402348SLC26A2c.963C>G (p.Leu321=)
c.372+2205C>G (n.372+2205C>G)
5g.149980556C>TCA447402349SLC26A2c.963C>T (p.Leu321=)
c.372+2205C>T (n.372+2205C>T)
ClinVar
5g.149980557A>CCA361706659SLC26A2c.964A>C (p.Asn322His)
c.372+2206A>C (n.372+2206A>C)
5g.149980557A>GCA361706657SLC26A2c.964A>G (p.Asn322Asp)
c.372+2206A>G (n.372+2206A>G)
5g.149980557A>TCA361706658SLC26A2c.964A>T (p.Asn322Tyr)
c.372+2206A>T (n.372+2206A>T)
5g.149980558A>CCA361706660SLC26A2c.965A>C (p.Asn322Thr)
c.372+2207A>C (n.372+2207A>C)
5g.149980558A>GCA361706661SLC26A2c.965A>G (p.Asn322Ser)
c.372+2207A>G (n.372+2207A>G)
ClinVar dbSNP gnomAD v4
5g.149980558A>TCA361706662SLC26A2c.965A>T (p.Asn322Ile)
c.372+2207A>T (n.372+2207A>T)
5g.149980559T>ACA361706663SLC26A2c.966T>A (p.Asn322Lys)
c.372+2208T>A (n.372+2208T>A)
5g.149980559T>CCA447402350SLC26A2c.966T>C (p.Asn322=)
c.372+2208T>C (n.372+2208T>C)
5g.149980559T>GCA361706664SLC26A2c.966T>G (p.Asn322Lys)
c.372+2208T>G (n.372+2208T>G)
5g.149980560G>ACA361706665SLC26A2c.967G>A (p.Glu323Lys)
c.372+2209G>A (n.372+2209G>A)
5g.149980560G>CCA361706666SLC26A2c.967G>C (p.Glu323Gln)
c.372+2209G>C (n.372+2209G>C)
5g.149980560G>TCA361706667SLC26A2c.967G>T (p.Glu323Ter)
c.372+2209G>T (n.372+2209G>T)
COSMIC
5g.149980561A>CCA361706668SLC26A2c.968A>C (p.Glu323Ala)
c.372+2210A>C (n.372+2210A>C)
5g.149980561A>GCA361706669SLC26A2c.968A>G (p.Glu323Gly)
c.372+2210A>G (n.372+2210A>G)
5g.149980561A>TCA361706670SLC26A2c.968A>T (p.Glu323Val)
c.372+2210A>T (n.372+2210A>T)
5g.149980562A>CCA361706671SLC26A2c.969A>C (p.Glu323Asp)
c.372+2211A>C (n.372+2211A>C)
5g.149980562A>GCA447402354SLC26A2c.969A>G (p.Glu323=)
c.372+2211A>G (n.372+2211A>G)
5g.149980562A>TCA361706672SLC26A2c.969A>T (p.Glu323Asp)
c.372+2211A>T (n.372+2211A>T)
gnomAD v4
5g.149980563C>ACA361706673SLC26A2c.970C>A (p.His324Asn)
c.372+2212C>A (n.372+2212C>A)
5g.149980563C=CA1590738423SLC26A2c.970C= (p.His324=)
c.372+2212C= (n.372+2212C=)
5g.149980563C>GCA361706675SLC26A2c.970C>G (p.His324Asp)
c.372+2212C>G (n.372+2212C>G)
5g.149980563C>TCA361706674SLC26A2c.970C>T (p.His324Tyr)
c.372+2212C>T (n.372+2212C>T)
dbSNP gnomAD v2 gnomAD v4
5g.149980564A>CCA361706676SLC26A2c.971A>C (p.His324Pro)
c.372+2213A>C (n.372+2213A>C)
5g.149980564A>GCA361706677SLC26A2c.971A>G (p.His324Arg)
c.372+2213A>G (n.372+2213A>G)
5g.149980564A>TCA361706678SLC26A2c.971A>T (p.His324Leu)
c.372+2213A>T (n.372+2213A>T)
5g.149980565C>ACA361706679SLC26A2c.972C>A (p.His324Gln)
c.372+2214C>A (n.372+2214C>A)
dbSNP gnomAD v4
5g.149980565C=CA1590738424SLC26A2c.972C= (p.His324=)
c.372+2214C= (n.372+2214C=)
5g.149980565C>GCA361706680SLC26A2c.972C>G (p.His324Gln)
c.372+2214C>G (n.372+2214C>G)
5g.149980565C>TCA447402358SLC26A2c.972C>T (p.His324=)
c.372+2214C>T (n.372+2214C>T)
dbSNP
5g.149980566T>ACA361706681SLC26A2c.973T>A (p.Phe325Ile)
c.372+2215T>A (n.372+2215T>A)
5g.149980566T>CCA361706682SLC26A2c.973T>C (p.Phe325Leu)
c.372+2215T>C (n.372+2215T>C)
5g.149980566T>GCA361706683SLC26A2c.973T>G (p.Phe325Val)
c.372+2215T>G (n.372+2215T>G)
5g.149980567T>ACA361706684SLC26A2c.974T>A (p.Phe325Tyr)
c.372+2216T>A (n.372+2216T>A)
5g.149980567T>CCA361706685SLC26A2c.974T>C (p.Phe325Ser)
c.372+2216T>C (n.372+2216T>C)
5g.149980567T>GCA361706686SLC26A2c.974T>G (p.Phe325Cys)
c.372+2216T>G (n.372+2216T>G)
5g.149980568C>ACA361706687SLC26A2c.975C>A (p.Phe325Leu)
c.372+2217C>A (n.372+2217C>A)
gnomAD v4
5g.149980568C>GCA361706688SLC26A2c.975C>G (p.Phe325Leu)
c.372+2217C>G (n.372+2217C>G)
5g.149980568C>TCA447402360SLC26A2c.975C>T (p.Phe325=)
c.372+2217C>T (n.372+2217C>T)
5g.149980569A>CCA361706689SLC26A2c.976A>C (p.Lys326Gln)
c.372+2218A>C (n.372+2218A>C)
5g.149980569A>GCA361706691SLC26A2c.976A>G (p.Lys326Glu)
c.372+2218A>G (n.372+2218A>G)
5g.149980569A>TCA361706690SLC26A2c.976A>T (p.Lys326Ter)
c.372+2218A>T (n.372+2218A>T)
5g.149980570A>CCA361706692SLC26A2c.977A>C (p.Lys326Thr)
c.372+2219A>C (n.372+2219A>C)
5g.149980570A>GCA361706693SLC26A2c.977A>G (p.Lys326Arg)
c.372+2219A>G (n.372+2219A>G)
5g.149980570A>TCA361706694SLC26A2c.977A>T (p.Lys326Ile)
c.372+2219A>T (n.372+2219A>T)
5g.149980571A=CA1590738425SLC26A2c.978A= (p.Lys326=)
c.372+2220A= (n.372+2220A=)
5g.149980571A>CCA361706695SLC26A2c.978A>C (p.Lys326Asn)
c.372+2220A>C (n.372+2220A>C)
5g.149980571A>GCA447402364SLC26A2c.978A>G (p.Lys326=)
c.372+2220A>G (n.372+2220A>G)
5g.149980571A>TCA361706696SLC26A2c.978A>T (p.Lys326Asn)
c.372+2220A>T (n.372+2220A>T)
dbSNP
5g.149980572T>ACA361706697SLC26A2c.979T>A (p.Ser327Thr)
c.372+2221T>A (n.372+2221T>A)
5g.149980572T>CCA361706698SLC26A2c.979T>C (p.Ser327Pro)
c.372+2221T>C (n.372+2221T>C)
5g.149980572T>GCA361706699SLC26A2c.979T>G (p.Ser327Ala)
c.372+2221T>G (n.372+2221T>G)
5g.149980573C>ACA361706700SLC26A2c.980C>A (p.Ser327Tyr)
c.372+2222C>A (n.372+2222C>A)
5g.149980573C=CA1590738426SLC26A2c.980C= (p.Ser327=)
c.372+2222C= (n.372+2222C=)
5g.149980573C>GCA361706701SLC26A2c.980C>G (p.Ser327Cys)
c.372+2222C>G (n.372+2222C>G)
5g.149980573C>TCA129083993SLC26A2c.980C>T (p.Ser327Phe)
c.372+2222C>T (n.372+2222C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.149980574C>ACA447402368SLC26A2c.981C>A (p.Ser327=)
c.372+2223C>A (n.372+2223C>A)
5g.149980574C>GCA447402369SLC26A2c.981C>G (p.Ser327=)
c.372+2223C>G (n.372+2223C>G)
5g.149980574C>TCA447402370SLC26A2c.981C>T (p.Ser327=)
c.372+2223C>T (n.372+2223C>T)
5g.149980575A=CA1590738427SLC26A2c.982A= (p.Lys328=)
c.372+2224A= (n.372+2224A=)
5g.149980575A>CCA361706703SLC26A2c.982A>C (p.Lys328Gln)
c.372+2224A>C (n.372+2224A>C)
5g.149980575A>GCA3505361SLC26A2c.982A>G (p.Lys328Glu)
c.372+2224A>G (n.372+2224A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149980575A>TCA361706702SLC26A2c.982A>T (p.Lys328Ter)
c.372+2224A>T (n.372+2224A>T)
5g.149980576A>CCA361706706SLC26A2c.983A>C (p.Lys328Thr)
c.372+2225A>C (n.372+2225A>C)
5g.149980576A>GCA361706704SLC26A2c.983A>G (p.Lys328Arg)
c.372+2225A>G (n.372+2225A>G)
gnomAD v4
5g.149980576A>TCA361706705SLC26A2c.983A>T (p.Lys328Met)
c.372+2225A>T (n.372+2225A>T)
5g.149980577G>ACA447402372SLC26A2c.984G>A (p.Lys328=)
c.372+2226G>A (n.372+2226G>A)
ClinVar dbSNP
5g.149980577G>CCA361706707SLC26A2c.984G>C (p.Lys328Asn)
c.372+2226G>C (n.372+2226G>C)
5g.149980577G=CA1590738428SLC26A2c.984G= (p.Lys328=)
c.372+2226G= (n.372+2226G=)
5g.149980577G>TCA361706708SLC26A2c.984G>T (p.Lys328Asn)
c.372+2226G>T (n.372+2226G>T)
5g.149980578C>ACA361706709SLC26A2c.985C>A (p.Leu329Ile)
c.372+2227C>A (n.372+2227C>A)
gnomAD v4
5g.149980578C>GCA361706710SLC26A2c.985C>G (p.Leu329Val)
c.372+2227C>G (n.372+2227C>G)
5g.149980578C>TCA361706711SLC26A2c.985C>T (p.Leu329Phe)
c.372+2227C>T (n.372+2227C>T)
5g.149980579T>ACA361706714SLC26A2c.986T>A (p.Leu329His)
c.372+2228T>A (n.372+2228T>A)
5g.149980579T>CCA361706712SLC26A2c.986T>C (p.Leu329Pro)
c.372+2228T>C (n.372+2228T>C)
5g.149980579T>GCA361706713SLC26A2c.986T>G (p.Leu329Arg)
c.372+2228T>G (n.372+2228T>G)

Number of alleles fetched