Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.107683396T>CCA577198868SLC26A4c.918+42T>C (n.918+42T>C)
dbSNP gnomAD v2 gnomAD v4
7g.107683396T=CA1732741794SLC26A4c.918+42T= (n.918+42T=)
7g.107683397G>CCA577198869SLC26A4c.918+43G>C (n.918+43G>C)
dbSNP gnomAD v2 gnomAD v4
7g.107683397G=CA1732741796SLC26A4c.918+43G= (n.918+43G=)
7g.107683399_107683401delCA2695208350SLC26A4c.918+45_918+47del (n.918+45_918+47del)
7g.107683399C=CA1732741797SLC26A4c.918+45C= (n.918+45C=)
7g.107683399C>GCA4432619SLC26A4c.918+45C>G (n.918+45C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107683399C>TCA2527226388SLC26A4c.918+45C>T (n.918+45C>T)
7g.107683400A>GCA2684466172SLC26A4c.918+46A>G (n.918+46A>G)
gnomAD v4
7g.107683401A=CA1732741799SLC26A4c.918+47A= (n.918+47A=)
7g.107683401A>CCA4432620SLC26A4c.918+47A>C (n.918+47A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.107683402A>GCA2515074997SLC26A4c.918+48A>G (n.918+48A>G)
dbSNP
7g.107683403C>ACA2557525702SLC26A4c.918+49C>A (n.918+49C>A)
7g.107683403C=CA1732741801SLC26A4c.918+49C= (n.918+49C=)
7g.107683403C>TCA164205677SLC26A4c.918+49C>T (n.918+49C>T)
dbSNP gnomAD v3 gnomAD v4
7g.107683406G>ACA1105634040SLC26A4c.919-49G>A (n.919-49G>A)
dbSNP gnomAD v3 gnomAD v4
7g.107683406G=CA1732741802SLC26A4c.919-49G= (n.919-49G=)
7g.107683407G>ACA2684466173SLC26A4c.919-48G>A (n.919-48G>A)
gnomAD v4
7g.107683408A=CA1732741804SLC26A4c.919-47A= (n.919-47A=)
7g.107683408A>GCA577198870SLC26A4c.919-47A>G (n.919-47A>G)
dbSNP gnomAD v2 gnomAD v4
7g.107683409A>GCA2507038150SLC26A4c.919-46A>G (n.919-46A>G)
7g.107683412A=CA1732741805SLC26A4c.919-43A= (n.919-43A=)
7g.107683412A>GCA2568809268SLC26A4c.919-43A>G (n.919-43A>G)
7g.107683412A>TCA577198871SLC26A4c.919-43A>T (n.919-43A>T)
dbSNP gnomAD v2 gnomAD v4
7g.107683414T>GCA2684466174SLC26A4c.919-41T>G (n.919-41T>G)
gnomAD v4
7g.107683415A>CCA2514100393SLC26A4c.919-40A>C (n.919-40A>C)
7g.107683418dupCA2684466175SLC26A4c.919-37dup (n.919-37dup)
gnomAD v4
7g.107683417A>CCA2578988675SLC26A4c.919-38A>C (n.919-38A>C)
7g.107683420C>ACA4432622SLC26A4c.919-35C>A (n.919-35C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107683420C=CA1732741808SLC26A4c.919-35C= (n.919-35C=)
7g.107683420C>GCA577198872SLC26A4c.919-35C>G (n.919-35C>G)
dbSNP gnomAD v2 gnomAD v4
7g.107683420C>TCA4432621SLC26A4c.919-35C>T (n.919-35C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.107683421A=CA1732741809SLC26A4c.919-34A= (n.919-34A=)
7g.107683421A>CCA831174304SLC26A4c.919-34A>C (n.919-34A>C)
dbSNP
7g.107683422A=CA1732741812SLC26A4c.919-33A= (n.919-33A=)
7g.107683422A>GCA577198873SLC26A4c.919-33A>G (n.919-33A>G)
dbSNP gnomAD v2 gnomAD v4
7g.107683423T>ACA4432623SLC26A4c.919-32T>A (n.919-32T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107683423T>CCA2578988678SLC26A4c.919-32T>C (n.919-32T>C)
7g.107683423T=CA1732741814SLC26A4c.919-32T= (n.919-32T=)
7g.107683425G>ACA2684466176SLC26A4c.919-30G>A (n.919-30G>A)
gnomAD v4
7g.107683426A=CA1732741815SLC26A4c.919-29A= (n.919-29A=)
7g.107683426A>CCA577198875SLC26A4c.919-29A>C (n.919-29A>C)
dbSNP gnomAD v2 gnomAD v4
7g.107683427G>ACA2553130146SLC26A4c.919-28G>A (n.919-28G>A)
gnomAD v4
7g.107683428T>CCA2684466177SLC26A4c.919-27T>C (n.919-27T>C)
gnomAD v4
7g.107683428T>GCA4432624SLC26A4c.919-27T>G (n.919-27T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107683428T=CA1732741817SLC26A4c.919-27T= (n.919-27T=)
7g.107683432delCA2578988680SLC26A4c.919-23del (n.919-23del)
7g.107683432T>ACA164205683SLC26A4c.919-23T>A (n.919-23T>A)
dbSNP gnomAD v4
7g.107683432T=CA1732741818SLC26A4c.919-23T= (n.919-23T=)
7g.107683434_107683467delCA913111806SLC26A4c.919-21_931del
7g.107683432_107683433insCTTTAAAAAAAAACA2564519772SLC26A4c.919-23_919-22insCTTTAAAAAAAAA (n.919-23_919-22insCTTTAAAAAAAAA)
7g.107683433_107683466delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCTCA1732741820SLC26A4c.919-22_930delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT
7g.107683434A=CA1732741825SLC26A4c.919-21A= (n.919-21A=)
7g.107683434A>GCA4432625SLC26A4c.919-21A>G (n.919-21A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107683434A>TCA577198876SLC26A4c.919-21A>T (n.919-21A>T)
dbSNP gnomAD v2 gnomAD v4
7g.107683436_107683468delCA658821802SLC26A4c.919-19_932del
ClinVar dbSNP
7g.107683436delCA2568344561SLC26A4c.919-19del (n.919-19del)
7g.107683436A>GCA2684466178SLC26A4c.919-19A>G (n.919-19A>G)
gnomAD v4
7g.107683437T>GCA4432626SLC26A4c.919-18T>G (n.919-18T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107683437T=CA1732741830SLC26A4c.919-18T= (n.919-18T=)
7g.107683438C>ACA2684466179SLC26A4c.919-17C>A (n.919-17C>A)
gnomAD v4
7g.107683438C=CA1732741833SLC26A4c.919-17C= (n.919-17C=)
7g.107683438C>TCA831174323SLC26A4c.919-17C>T (n.919-17C>T)
ClinVar dbSNP
7g.107683438_107683440delinsCTTCA1732741834SLC26A4c.919-17_919-15delinsCTT (n.919-17_919-15delinsCTT)
7g.107683439T>CCA2578988685SLC26A4c.919-16T>C (n.919-16T>C)
ClinVar gnomAD v4
7g.107683441_107683442delCA4432627SLC26A4c.919-14_919-13del (n.919-14_919-13del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107683440T>CCA2558754573SLC26A4c.919-15T>C (n.919-15T>C)
7g.107683440T>GCA1732741838SLC26A4c.919-15T>G (n.919-15T>G)
dbSNP
7g.107683440T=CA1732741837SLC26A4c.919-15T= (n.919-15T=)
7g.107683445T>ACA2578988686SLC26A4c.919-10T>A (n.919-10T>A)
7g.107683445T>CCA2739278393SLC26A4c.919-10T>C (n.919-10T>C)
ClinVar
7g.107683446T>ACA457205269SLC26A4c.919-9T>A (n.919-9T>A)
COSMIC
7g.107683446T>GCA2697557492SLC26A4c.919-9T>G (n.919-9T>G)
ClinVar
7g.107683448A>CCA2580076164SLC26A4c.919-7A>C (n.919-7A>C)
ClinVar
7g.107683449T>CCA1732741842SLC26A4c.919-6T>C (n.919-6T>C)
dbSNP
7g.107683449T=CA1732741840SLC26A4c.919-6T= (n.919-6T=)
7g.107683452C=CA1732741844SLC26A4c.919-3C= (n.919-3C=)
7g.107683452C>TCA577198877SLC26A4c.919-3C>T (n.919-3C>T)
dbSNP gnomAD v2 gnomAD v4
7g.107683453A=CA1732741850SLC26A4c.919-2A= (n.919-2A=)
7g.107683453A>CCA368835558SLC26A4c.919-2A>C (n.919-2A>C)
ClinVar
7g.107683453A>GCA261445SLC26A4c.919-2A>G (n.919-2A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107683453A>TCA368835561SLC26A4c.919-2A>T (n.919-2A>T)
7g.107683454G>ACA368835564SLC26A4c.919-1G>A (n.919-1G>A)
7g.107683454G>CCA368835566SLC26A4c.919-1G>C (n.919-1G>C)
7g.107683454G>TCA368835568SLC26A4c.919-1G>T (n.919-1G>T)
7g.107683455A=CA1732741858SLC26A4c.919A= (p.Thr307=)
7g.107683455A>CCA368835573SLC26A4c.919A>C (p.Thr307Pro)
gnomAD v4
7g.107683455A>GCA368835575SLC26A4c.919A>G (p.Thr307Ala)
ClinVar dbSNP
7g.107683455A>TCA368835571SLC26A4c.919A>T (p.Thr307Ser)
7g.107683455_107683472delinsCCCCACA2695208351SLC26A4c.919_936delinsCCCCA (p.Thr307ProfsTer?)
7g.107683456C>ACA368835581SLC26A4c.920C>A (p.Thr307Lys)
7g.107683456C=CA1732741868SLC26A4c.920C= (p.Thr307=)
7g.107683456C>GCA368835578SLC26A4c.920C>G (p.Thr307Arg)
7g.107683456C>TCA4432628SLC26A4c.920C>T (p.Thr307Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107683457G>ACA4432629SLC26A4c.921G>A (p.Thr307=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.107683457G>CCA457205280SLC26A4c.921G>C (p.Thr307=)
COSMIC
7g.107683457G=CA1732741870SLC26A4c.921G= (p.Thr307=)
7g.107683457G>TCA457205281SLC26A4c.921G>T (p.Thr307=)
dbSNP gnomAD v4
7g.107683458A>CCA368835584SLC26A4c.922A>C (p.Ile308Leu)
7g.107683458A>GCA368835587SLC26A4c.922A>G (p.Ile308Val)
gnomAD v4
7g.107683458A>TCA368835589SLC26A4c.922A>T (p.Ile308Leu)
7g.107683459T>ACA368835592SLC26A4c.923T>A (p.Ile308Lys)
7g.107683459T>CCA368835595SLC26A4c.923T>C (p.Ile308Thr)
7g.107683459T>GCA368835598SLC26A4c.923T>G (p.Ile308Arg)
7g.107683461_107683467delCA2695208352SLC26A4c.925_931del (p.Ile309LeufsTer?)
7g.107683460A>CCA457205287SLC26A4c.924A>C (p.Ile308=)
7g.107683460A>GCA368835601SLC26A4c.924A>G (p.Ile308Met)
7g.107683460A>TCA457205288SLC26A4c.924A>T (p.Ile308=)
7g.107683461A>CCA368835612SLC26A4c.925A>C (p.Ile309Leu)
7g.107683461A>GCA368835613SLC26A4c.925A>G (p.Ile309Val)
7g.107683461A>TCA368835615SLC26A4c.925A>T (p.Ile309Phe)
gnomAD v4
7g.107683462T>ACA368835616SLC26A4c.926T>A (p.Ile309Asn)
7g.107683462T>CCA164205691SLC26A4c.926T>C (p.Ile309Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.107683462T>GCA368835618SLC26A4c.926T>G (p.Ile309Ser)
7g.107683462T=CA1732741873SLC26A4c.926T= (p.Ile309=)
7g.107683463T>ACA457205291SLC26A4c.927T>A (p.Ile309=)
7g.107683463T>CCA457205293SLC26A4c.927T>C (p.Ile309=)
7g.107683463T>GCA368835622SLC26A4c.927T>G (p.Ile309Met)
7g.107683464G>ACA368835626SLC26A4c.928G>A (p.Ala310Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.107683464G>CCA368835629SLC26A4c.928G>C (p.Ala310Pro)
gnomAD v4
7g.107683464G=CA1732741876SLC26A4c.928G= (p.Ala310=)
7g.107683464G>TCA4432630SLC26A4c.928G>T (p.Ala310Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107683464_107683465delinsGCCA1732741877SLC26A4c.928_929delinsGC (p.Ala310=)
7g.107683465delCA577198878SLC26A4c.929del (p.Ala310ValfsTer?)
dbSNP gnomAD v2 gnomAD v4
7g.107683465C>ACA368835635SLC26A4c.929C>A (p.Ala310Asp)
7g.107683465C=CA1732741886SLC26A4c.929C= (p.Ala310=)
7g.107683465C>GCA368835638SLC26A4c.929C>G (p.Ala310Gly)
gnomAD v4
7g.107683465C>TCA4432631SLC26A4c.929C>T (p.Ala310Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107683466T>ACA457205301SLC26A4c.930T>A (p.Ala310=)
7g.107683466T>CCA457205303SLC26A4c.930T>C (p.Ala310=)
7g.107683466T>GCA457205305SLC26A4c.930T>G (p.Ala310=)
7g.107683467A>CCA368835643SLC26A4c.931A>C (p.Thr311Pro)
7g.107683467A>GCA368835644SLC26A4c.931A>G (p.Thr311Ala)
7g.107683467A>TCA368835647SLC26A4c.931A>T (p.Thr311Ser)
7g.107683468C>ACA368835654SLC26A4c.932C>A (p.Thr311Asn)
7g.107683468C>GCA368835657SLC26A4c.932C>G (p.Thr311Ser)
7g.107683468C>TCA368835652SLC26A4c.932C>T (p.Thr311Ile)
7g.107683469T>ACA457205308SLC26A4c.933T>A (p.Thr311=)
dbSNP
7g.107683469T>CCA457205313SLC26A4c.933T>C (p.Thr311=)
gnomAD v4
7g.107683469T>GCA457205310SLC26A4c.933T>G (p.Thr311=)
7g.107683469T=CA1732741892SLC26A4c.933T= (p.Thr311=)
7g.107683470G>ACA368835659SLC26A4c.934G>A (p.Ala312Thr)
7g.107683470G>CCA368835661SLC26A4c.934G>C (p.Ala312Pro)
7g.107683470G>TCA368835664SLC26A4c.934G>T (p.Ala312Ser)
7g.107683471C>ACA368835667SLC26A4c.935C>A (p.Ala312Asp)
7g.107683471C=CA1732741895SLC26A4c.935C= (p.Ala312=)
7g.107683471C>GCA368835669SLC26A4c.935C>G (p.Ala312Gly)
7g.107683471C>TCA368835672SLC26A4c.935C>T (p.Ala312Val)
dbSNP gnomAD v2 gnomAD v4
7g.107683472C>ACA457205314SLC26A4c.936C>A (p.Ala312=)
7g.107683472C>GCA457205315SLC26A4c.936C>G (p.Ala312=)
7g.107683472C>TCA457205317SLC26A4c.936C>T (p.Ala312=)
7g.107683473A=CA1732741900SLC26A4c.937A= (p.Ile313=)
7g.107683473A>CCA368835676SLC26A4c.937A>C (p.Ile313Leu)
7g.107683473A>GCA4432632SLC26A4c.937A>G (p.Ile313Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107683473A>TCA368835679SLC26A4c.937A>T (p.Ile313Phe)
7g.107683474T>ACA368835683SLC26A4c.938T>A (p.Ile313Asn)
7g.107683474T>CCA368835684SLC26A4c.938T>C (p.Ile313Thr)
gnomAD v4
7g.107683474T>GCA368835686SLC26A4c.938T>G (p.Ile313Ser)
7g.107683475T>ACA457205321SLC26A4c.939T>A (p.Ile313=)
7g.107683475T>CCA457205322SLC26A4c.939T>C (p.Ile313=)
7g.107683475T>GCA368835689SLC26A4c.939T>G (p.Ile313Met)
7g.107683476T>ACA368835697SLC26A4c.940T>A (p.Ser314Thr)
7g.107683476T>CCA368835694SLC26A4c.940T>C (p.Ser314Pro)
7g.107683476T>GCA368835692SLC26A4c.940T>G (p.Ser314Ala)
7g.107683477C>ACA368835701SLC26A4c.941C>A (p.Ser314Ter)
7g.107683477C=CA1732741903SLC26A4c.941C= (p.Ser314=)
7g.107683477C>GCA368835702SLC26A4c.941C>G (p.Ser314Ter)
ClinVar dbSNP
7g.107683477C>TCA368835705SLC26A4c.941C>T (p.Ser314Leu)
7g.107683478A>CCA457205328SLC26A4c.942A>C (p.Ser314=)
7g.107683478A>GCA457205330SLC26A4c.942A>G (p.Ser314=)
ClinVar
7g.107683478A>TCA457205331SLC26A4c.942A>T (p.Ser314=)
7g.107683479T>ACA368835709SLC26A4c.943T>A (p.Tyr315Asn)
7g.107683479T>CCA368835721SLC26A4c.943T>C (p.Tyr315His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.107683479T>GCA368835722SLC26A4c.943T>G (p.Tyr315Asp)
7g.107683479T=CA1732741907SLC26A4c.943T= (p.Tyr315=)
7g.107683480A=CA1732741909SLC26A4c.944A= (p.Tyr315=)
7g.107683480A>CCA368835723SLC26A4c.944A>C (p.Tyr315Ser)
gnomAD v4
7g.107683480A>GCA368835729SLC26A4c.944A>G (p.Tyr315Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.107683480A>TCA368835732SLC26A4c.944A>T (p.Tyr315Phe)
7g.107683481T>ACA368835735SLC26A4c.945T>A (p.Tyr315Ter)
dbSNP
7g.107683481T>CCA457205332SLC26A4c.945T>C (p.Tyr315=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.107683481T>GCA368835739SLC26A4c.945T>G (p.Tyr315Ter)
7g.107683481T=CA1732741912SLC26A4c.945T= (p.Tyr315=)
7g.107683482G>ACA368835743SLC26A4c.946G>A (p.Gly316Arg)
dbSNP
7g.107683482G>CCA368835746SLC26A4c.946G>C (p.Gly316Arg)
7g.107683482G=CA1732741919SLC26A4c.946G= (p.Gly316=)
7g.107683482G>TCA368835748SLC26A4c.946G>T (p.Gly316Ter)
ClinVar dbSNP gnomAD v4
7g.107683483G>ACA368835756SLC26A4c.947G>A (p.Gly316Glu)
7g.107683483G>CCA368835753SLC26A4c.947G>C (p.Gly316Ala)
7g.107683483G>TCA368835751SLC26A4c.947G>T (p.Gly316Val)
7g.107683484A=CA1732741924SLC26A4c.948A= (p.Gly316=)
7g.107683484A>CCA10576712SLC26A4c.948A>C (p.Gly316=)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.107683484A>GCA457205338SLC26A4c.948A>G (p.Gly316=)
7g.107683484A>TCA457205339SLC26A4c.948A>T (p.Gly316=)
7g.107683485G>ACA368835763SLC26A4c.949G>A (p.Ala317Thr)
dbSNP gnomAD v2 gnomAD v4
7g.107683485G>CCA368835768SLC26A4c.949G>C (p.Ala317Pro)
7g.107683485G=CA1732741931SLC26A4c.949G= (p.Ala317=)
7g.107683485G>TCA368835765SLC26A4c.949G>T (p.Ala317Ser)
7g.107683486C>ACA4432633SLC26A4c.950C>A (p.Ala317Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107683486C=CA1732741934SLC26A4c.950C= (p.Ala317=)
7g.107683486C>GCA368835776SLC26A4c.950C>G (p.Ala317Gly)
7g.107683486C>TCA368835774SLC26A4c.950C>T (p.Ala317Val)
7g.107683487C>ACA457205345SLC26A4c.951C>A (p.Ala317=)
7g.107683487C>GCA457205346SLC26A4c.951C>G (p.Ala317=)
7g.107683487C>TCA457205347SLC26A4c.951C>T (p.Ala317=)
7g.107683488A>CCA368835780SLC26A4c.952A>C (p.Asn318His)
7g.107683488A>GCA368835784SLC26A4c.952A>G (p.Asn318Asp)
7g.107683488A>TCA368835786SLC26A4c.952A>T (p.Asn318Tyr)
7g.107683489A>CCA368835792SLC26A4c.953A>C (p.Asn318Thr)
7g.107683489A>GCA368835794SLC26A4c.953A>G (p.Asn318Ser)
7g.107683489A>TCA368835798SLC26A4c.953A>T (p.Asn318Ile)
7g.107683490C>ACA368835804SLC26A4c.954C>A (p.Asn318Lys)
7g.107683490C=CA1732741936SLC26A4c.954C= (p.Asn318=)
7g.107683490C>GCA368835808SLC26A4c.954C>G (p.Asn318Lys)
7g.107683490C>TCA457205353SLC26A4c.954C>T (p.Asn318=)
dbSNP gnomAD v4
7g.107683491C>ACA368835809SLC26A4c.955C>A (p.Leu319Met)
7g.107683491C=CA1732741940SLC26A4c.955C= (p.Leu319=)
7g.107683491C>GCA368835810SLC26A4c.955C>G (p.Leu319Val)
dbSNP
7g.107683491C>TCA457205354SLC26A4c.955C>T (p.Leu319=)
7g.107683492T>ACA368835811SLC26A4c.956T>A (p.Leu319Gln)
7g.107683492T>CCA368835812SLC26A4c.956T>C (p.Leu319Pro)
7g.107683492T>GCA368835813SLC26A4c.956T>G (p.Leu319Arg)
7g.107683493G>ACA457205359SLC26A4c.957G>A (p.Leu319=)
ClinVar dbSNP gnomAD v4
7g.107683493G>CCA457205360SLC26A4c.957G>C (p.Leu319=)
7g.107683493G=CA1732741941SLC26A4c.957G= (p.Leu319=)
7g.107683493G>TCA457205361SLC26A4c.957G>T (p.Leu319=)
7g.107683494G>ACA368835816SLC26A4c.958G>A (p.Glu320Lys)
COSMIC
7g.107683494G>CCA368835821SLC26A4c.958G>C (p.Glu320Gln)
7g.107683494G>TCA368835817SLC26A4c.958G>T (p.Glu320Ter)
7g.107683494_107683495delinsGACA1732741943SLC26A4c.958_959delinsGA (p.Glu320=)
7g.107683495A>CCA368835823SLC26A4c.959A>C (p.Glu320Ala)
7g.107683495A>GCA368835824SLC26A4c.959A>G (p.Glu320Gly)
7g.107683495A>TCA368835825SLC26A4c.959A>T (p.Glu320Val)
7g.107683501dupCA1732741947SLC26A4c.965dup (p.Asn322LysfsTer8)
ClinVar dbSNP
7g.107683501delCA4432634SLC26A4c.965del (p.Asn322IlefsTer22)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.107683496A>CCA368835826SLC26A4c.960A>C (p.Glu320Asp)
7g.107683496A>GCA457205363SLC26A4c.960A>G (p.Glu320=)
ClinVar dbSNP gnomAD v4
7g.107683496A>TCA368835828SLC26A4c.960A>T (p.Glu320Asp)

Number of alleles fetched