| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
| 16 | g.56870152_56870157del | CA2695223669 | SLC12A3 | c.658_663del (p.Gly220_Leu221del) c.655_660del (p.Gly219_Leu220del) | |
| 16 | g.56870151C>A | CA495603089 | SLC12A3 | c.657C>A (p.Ile219=) c.654C>A (p.Ile218=) | dbSNP gnomAD v4 |
| 16 | g.56870151C= | CA2224349296 | SLC12A3 | c.657C= (p.Ile219=) c.654C= (p.Ile218=) | |
| 16 | g.56870151C>G | CA395981846 | SLC12A3 | c.657C>G (p.Ile219Met) c.654C>G (p.Ile218Met) | |
| 16 | g.56870151C>T | CA8069137 | SLC12A3 | c.657C>T (p.Ile219=) c.654C>T (p.Ile218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870152G>A | CA395981853 | SLC12A3 | c.658G>A (p.Gly220Ser) c.655G>A (p.Gly219Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56870152G>C | CA395981855 | SLC12A3 | c.658G>C (p.Gly220Arg) c.655G>C (p.Gly219Arg) | |
| 16 | g.56870152G= | CA2224349297 | SLC12A3 | c.658G= (p.Gly220=) c.655G= (p.Gly219=) | |
| 16 | g.56870152G>T | CA395981857 | SLC12A3 | c.658G>T (p.Gly220Cys) c.655G>T (p.Gly219Cys) | COSMIC |
| 16 | g.56870153del | CA2499223588 | SLC12A3 | c.659del (p.Gly220AlafsTer?) c.656del (p.Gly219AlafsTer?) | ClinVar dbSNP |
| 16 | g.56870153G>A | CA395981862 | SLC12A3 | c.659G>A (p.Gly220Asp) c.656G>A (p.Gly219Asp) | |
| 16 | g.56870153G>C | CA395981865 | SLC12A3 | c.659G>C (p.Gly220Ala) c.656G>C (p.Gly219Ala) | |
| 16 | g.56870153G>T | CA395981866 | SLC12A3 | c.659G>T (p.Gly220Val) c.656G>T (p.Gly219Val) | |
| 16 | g.56870154C>A | CA495603095 | SLC12A3 | c.660C>A (p.Gly220=) c.657C>A (p.Gly219=) | |
| 16 | g.56870154C>G | CA495603096 | SLC12A3 | c.660C>G (p.Gly220=) c.657C>G (p.Gly219=) | |
| 16 | g.56870154C>T | CA495603097 | SLC12A3 | c.660C>T (p.Gly220=) c.657C>T (p.Gly219=) | |
| 16 | g.56870155C>A | CA395981875 | SLC12A3 | c.661C>A (p.Leu221Ile) c.658C>A (p.Leu220Ile) | |
| 16 | g.56870155C>G | CA395981873 | SLC12A3 | c.661C>G (p.Leu221Val) c.658C>G (p.Leu220Val) | |
| 16 | g.56870155C>T | CA395981870 | SLC12A3 | c.661C>T (p.Leu221Phe) c.658C>T (p.Leu220Phe) | gnomAD v4 |
| 16 | g.56870156T>A | CA395981878 | SLC12A3 | c.662T>A (p.Leu221His) c.659T>A (p.Leu220His) | |
| 16 | g.56870156T>C | CA395981881 | SLC12A3 | c.662T>C (p.Leu221Pro) c.659T>C (p.Leu220Pro) | |
| 16 | g.56870156T>G | CA395981883 | SLC12A3 | c.662T>G (p.Leu221Arg) c.659T>G (p.Leu220Arg) | |
| 16 | g.56870157C>A | CA495603099 | SLC12A3 | c.663C>A (p.Leu221=) c.660C>A (p.Leu220=) | dbSNP |
| 16 | g.56870157C>G | CA495603100 | SLC12A3 | c.663C>G (p.Leu221=) c.660C>G (p.Leu220=) | |
| 16 | g.56870157C>T | CA495603098 | SLC12A3 | c.663C>T (p.Leu221=) c.660C>T (p.Leu220=) | ClinVar |
| 16 | g.56870158A= | CA2224349298 | SLC12A3 | c.664A= (p.Ile222=) c.661A= (p.Ile221=) | |
| 16 | g.56870158A>C | CA395981886 | SLC12A3 | c.664A>C (p.Ile222Leu) c.661A>C (p.Ile221Leu) | gnomAD v3 gnomAD v4 |
| 16 | g.56870158A>G | CA281496768 | SLC12A3 | c.664A>G (p.Ile222Val) c.661A>G (p.Ile221Val) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56870158A>T | CA395981891 | SLC12A3 | c.664A>T (p.Ile222Phe) c.661A>T (p.Ile221Phe) | |
| 16 | g.56870158_56870160del | CA2695223670 | SLC12A3 | c.664_666del (p.Ile222del) c.661_663del (p.Ile221del) | |
| 16 | g.56870159T>A | CA395981896 | SLC12A3 | c.665T>A (p.Ile222Asn) c.662T>A (p.Ile221Asn) | |
| 16 | g.56870159T>C | CA395981898 | SLC12A3 | c.665T>C (p.Ile222Thr) c.662T>C (p.Ile221Thr) | gnomAD v4 |
| 16 | g.56870159T>G | CA395981901 | SLC12A3 | c.665T>G (p.Ile222Ser) c.662T>G (p.Ile221Ser) | |
| 16 | g.56870162del | CA2695223671 | SLC12A3 | c.668del (p.Phe223SerfsTer?) c.665del (p.Phe222SerfsTer?) | |
| 16 | g.56870160T>A | CA495603102 | SLC12A3 | c.666T>A (p.Ile222=) c.663T>A (p.Ile221=) | |
| 16 | g.56870160T>C | CA495603103 | SLC12A3 | c.666T>C (p.Ile222=) c.663T>C (p.Ile221=) | |
| 16 | g.56870160T>G | CA395981904 | SLC12A3 | c.666T>G (p.Ile222Met) c.663T>G (p.Ile221Met) | |
| 16 | g.56870161T>A | CA395981907 | SLC12A3 | c.667T>A (p.Phe223Ile) c.664T>A (p.Phe222Ile) | |
| 16 | g.56870161T>C | CA395981909 | SLC12A3 | c.667T>C (p.Phe223Leu) c.664T>C (p.Phe222Leu) | |
| 16 | g.56870161T>G | CA395981910 | SLC12A3 | c.667T>G (p.Phe223Val) c.664T>G (p.Phe222Val) | |
| 16 | g.56870162T>A | CA395981917 | SLC12A3 | c.668T>A (p.Phe223Tyr) c.665T>A (p.Phe222Tyr) | gnomAD v4 |
| 16 | g.56870162T>C | CA395981913 | SLC12A3 | c.668T>C (p.Phe223Ser) c.665T>C (p.Phe222Ser) | |
| 16 | g.56870162T>G | CA395981915 | SLC12A3 | c.668T>G (p.Phe223Cys) c.665T>G (p.Phe222Cys) | |
| 16 | g.56870163C>A | CA395981919 | SLC12A3 | c.669C>A (p.Phe223Leu) c.666C>A (p.Phe222Leu) | |
| 16 | g.56870163C= | CA2224349299 | SLC12A3 | c.669C= (p.Phe223=) c.666C= (p.Phe222=) | |
| 16 | g.56870163C>G | CA395981921 | SLC12A3 | c.669C>G (p.Phe223Leu) c.666C>G (p.Phe222Leu) | |
| 16 | g.56870163C>T | CA8069138 | SLC12A3 | c.669C>T (p.Phe223=) c.666C>T (p.Phe222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56870164G>A | CA8069139 | SLC12A3 | c.670G>A (p.Ala224Thr) c.667G>A (p.Ala223Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870164G>C | CA281496773 | SLC12A3 | c.670G>C (p.Ala224Pro) c.667G>C (p.Ala223Pro) | dbSNP gnomAD v4 |
| 16 | g.56870164G= | CA2224349301 | SLC12A3 | c.670G= (p.Ala224=) c.667G= (p.Ala223=) | |
| 16 | g.56870164G>T | CA395981925 | SLC12A3 | c.670G>T (p.Ala224Ser) c.667G>T (p.Ala223Ser) | gnomAD v4 |
| 16 | g.56870164_56870166delinsGCT | CA2224349300 | SLC12A3 | c.670_672delinsGCT (p.Ala224=) c.667_669delinsGCT (p.Ala223=) | |
| 16 | g.56870165C>A | CA395981927 | SLC12A3 | c.671C>A (p.Ala224Asp) c.668C>A (p.Ala223Asp) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56870165C= | CA2224349303 | SLC12A3 | c.671C= (p.Ala224=) c.668C= (p.Ala223=) | |
| 16 | g.56870165C>G | CA395981928 | SLC12A3 | c.671C>G (p.Ala224Gly) c.668C>G (p.Ala223Gly) | |
| 16 | g.56870165C>T | CA395981931 | SLC12A3 | c.671C>T (p.Ala224Val) c.668C>T (p.Ala223Val) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870165_56870166del | CA2224349302 | SLC12A3 | c.671_672del (p.Ala224ValfsTer?) c.668_669del (p.Ala223ValfsTer?) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56870166T>A | CA495603109 | SLC12A3 | c.672T>A (p.Ala224=) c.669T>A (p.Ala223=) | |
| 16 | g.56870166T>C | CA495603110 | SLC12A3 | c.672T>C (p.Ala224=) c.669T>C (p.Ala223=) | ClinVar dbSNP |
| 16 | g.56870166T>G | CA495603111 | SLC12A3 | c.672T>G (p.Ala224=) c.669T>G (p.Ala223=) | |
| 16 | g.56870167T>A | CA395981933 | SLC12A3 | c.673T>A (p.Phe225Ile) c.670T>A (p.Phe224Ile) | |
| 16 | g.56870167T>C | CA395981935 | SLC12A3 | c.673T>C (p.Phe225Leu) c.670T>C (p.Phe224Leu) | |
| 16 | g.56870167T>G | CA395981937 | SLC12A3 | c.673T>G (p.Phe225Val) c.670T>G (p.Phe224Val) | |
| 16 | g.56870168T>A | CA395981939 | SLC12A3 | c.674T>A (p.Phe225Tyr) c.671T>A (p.Phe224Tyr) | |
| 16 | g.56870168T>C | CA395981941 | SLC12A3 | c.674T>C (p.Phe225Ser) c.671T>C (p.Phe224Ser) | gnomAD v4 |
| 16 | g.56870168T>G | CA395981940 | SLC12A3 | c.674T>G (p.Phe225Cys) c.671T>G (p.Phe224Cys) | |
| 16 | g.56870168_56870169delinsTC | CA2224349304 | SLC12A3 | c.674_675delinsTC (p.Phe225=) c.671_672delinsTC (p.Phe224=) | |
| 16 | g.56870169del | CA622333933 | SLC12A3 | c.675del (p.Phe225LeufsTer?) c.672del (p.Phe224LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870169C>A | CA395981942 | SLC12A3 | c.675C>A (p.Phe225Leu) c.672C>A (p.Phe224Leu) | |
| 16 | g.56870169C= | CA2224349305 | SLC12A3 | c.675C= (p.Phe225=) c.672C= (p.Phe224=) | |
| 16 | g.56870169C>G | CA395981944 | SLC12A3 | c.675C>G (p.Phe225Leu) c.672C>G (p.Phe224Leu) | |
| 16 | g.56870169C>T | CA8069140 | SLC12A3 | c.675C>T (p.Phe225=) c.672C>T (p.Phe224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870170G>A | CA8069141 | SLC12A3 | c.676G>A (p.Ala226Thr) c.673G>A (p.Ala225Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870170G>C | CA395981946 | SLC12A3 | c.676G>C (p.Ala226Pro) c.673G>C (p.Ala225Pro) | |
| 16 | g.56870170G= | CA2224349306 | SLC12A3 | c.676G= (p.Ala226=) c.673G= (p.Ala225=) | |
| 16 | g.56870170G>T | CA395981948 | SLC12A3 | c.676G>T (p.Ala226Ser) c.673G>T (p.Ala225Ser) | ClinVar gnomAD v4 |
| 16 | g.56870171C>A | CA8069142 | SLC12A3 | c.677C>A (p.Ala226Asp) c.674C>A (p.Ala225Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870171C= | CA2224349307 | SLC12A3 | c.677C= (p.Ala226=) c.674C= (p.Ala225=) | |
| 16 | g.56870171C>G | CA395981951 | SLC12A3 | c.677C>G (p.Ala226Gly) c.674C>G (p.Ala225Gly) | |
| 16 | g.56870171C>T | CA395981953 | SLC12A3 | c.677C>T (p.Ala226Val) c.674C>T (p.Ala225Val) | |
| 16 | g.56870171_56870172insA | CA622333937 | SLC12A3 | c.677_678insA (p.Asn227GlnfsTer?) c.674_675insA (p.Asn226GlnfsTer?) | gnomAD v2 gnomAD v4 |
| 16 | g.56870172C>A | CA495603112 | SLC12A3 | c.678C>A (p.Ala226=) c.675C>A (p.Ala225=) | |
| 16 | g.56870172C= | CA2224349308 | SLC12A3 | c.678C= (p.Ala226=) c.675C= (p.Ala225=) | |
| 16 | g.56870172C>G | CA8069143 | SLC12A3 | c.678C>G (p.Ala226=) c.675C>G (p.Ala225=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870172C>T | CA495603113 | SLC12A3 | c.678C>T (p.Ala226=) c.675C>T (p.Ala225=) | |
| 16 | g.56870173A= | CA2224349310 | SLC12A3 | c.679A= (p.Asn227=) c.676A= (p.Asn226=) | |
| 16 | g.56870173A>C | CA395981954 | SLC12A3 | c.679A>C (p.Asn227His) c.676A>C (p.Asn226His) | |
| 16 | g.56870173A>G | CA395981955 | SLC12A3 | c.679A>G (p.Asn227Asp) c.676A>G (p.Asn226Asp) | |
| 16 | g.56870173A>T | CA395981957 | SLC12A3 | c.679A>T (p.Asn227Tyr) c.676A>T (p.Asn226Tyr) | dbSNP |
| 16 | g.56870173_56870177delinsAATGC | CA2224349309 | SLC12A3 | c.679_683delinsAATGC (p.Asn227=) c.676_680delinsAATGC (p.Asn226=) | |
| 16 | g.56870174A= | CA2224349311 | SLC12A3 | c.680A= (p.Asn227=) c.677A= (p.Asn226=) | |
| 16 | g.56870174A>C | CA8069144 | SLC12A3 | c.680A>C (p.Asn227Thr) c.677A>C (p.Asn226Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870174A>G | CA395981960 | SLC12A3 | c.680A>G (p.Asn227Ser) c.677A>G (p.Asn226Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870174A>T | CA395981963 | SLC12A3 | c.680A>T (p.Asn227Ile) c.677A>T (p.Asn226Ile) | |
| 16 | g.56870174_56870177del | CA622333938 | SLC12A3 | c.680_683del (p.Asn227ThrfsTer?) c.677_680del (p.Asn226ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870175T>A | CA395981965 | SLC12A3 | c.681T>A (p.Asn227Lys) c.678T>A (p.Asn226Lys) | |
| 16 | g.56870175T>C | CA495603114 | SLC12A3 | c.681T>C (p.Asn227=) c.678T>C (p.Asn226=) | |
| 16 | g.56870175T>G | CA8069145 | SLC12A3 | c.681T>G (p.Asn227Lys) c.678T>G (p.Asn226Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870175T= | CA2224349312 | SLC12A3 | c.681T= (p.Asn227=) c.678T= (p.Asn226=) | |
| 16 | g.56870176G>A | CA8069146 | SLC12A3 | c.682G>A (p.Ala228Thr) c.679G>A (p.Ala227Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870176G>C | CA395981968 | SLC12A3 | c.682G>C (p.Ala228Pro) c.679G>C (p.Ala227Pro) | |
| 16 | g.56870176G= | CA2224349313 | SLC12A3 | c.682G= (p.Ala228=) c.679G= (p.Ala227=) | |
| 16 | g.56870176G>T | CA395981971 | SLC12A3 | c.682G>T (p.Ala228Ser) c.679G>T (p.Ala227Ser) | |
| 16 | g.56870177C>A | CA395981973 | SLC12A3 | c.683C>A (p.Ala228Asp) c.680C>A (p.Ala227Asp) | |
| 16 | g.56870177C>G | CA395981974 | SLC12A3 | c.683C>G (p.Ala228Gly) c.680C>G (p.Ala227Gly) | |
| 16 | g.56870177C>T | CA395981977 | SLC12A3 | c.683C>T (p.Ala228Val) c.680C>T (p.Ala227Val) | COSMIC |
| 16 | g.56870178C>A | CA495603115 | SLC12A3 | c.684C>A (p.Ala228=) c.681C>A (p.Ala227=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870178C= | CA2224349314 | SLC12A3 | c.684C= (p.Ala228=) c.681C= (p.Ala227=) | |
| 16 | g.56870178C>G | CA495603116 | SLC12A3 | c.684C>G (p.Ala228=) c.681C>G (p.Ala227=) | |
| 16 | g.56870178C>T | CA8069147 | SLC12A3 | c.684C>T (p.Ala228=) c.681C>T (p.Ala227=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56870179G>A | CA8069148 | SLC12A3 | c.685G>A (p.Val229Met) c.682G>A (p.Val228Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870179G>C | CA395981982 | SLC12A3 | c.685G>C (p.Val229Leu) c.682G>C (p.Val228Leu) | |
| 16 | g.56870179G= | CA2224349315 | SLC12A3 | c.685G= (p.Val229=) c.682G= (p.Val228=) | |
| 16 | g.56870179G>T | CA395981984 | SLC12A3 | c.685G>T (p.Val229Leu) c.682G>T (p.Val228Leu) | |
| 16 | g.56870180del | CA622333953 | SLC12A3 | c.686del (p.Val229GlyfsTer?) c.683del (p.Val228GlyfsTer?) | gnomAD v2 gnomAD v4 |
| 16 | g.56870180T>A | CA395981990 | SLC12A3 | c.686T>A (p.Val229Glu) c.683T>A (p.Val228Glu) | |
| 16 | g.56870180T>C | CA395981988 | SLC12A3 | c.686T>C (p.Val229Ala) c.683T>C (p.Val228Ala) | |
| 16 | g.56870180T>G | CA395981986 | SLC12A3 | c.686T>G (p.Val229Gly) c.683T>G (p.Val228Gly) | |
| 16 | g.56870181G>A | CA495603117 | SLC12A3 | c.687G>A (p.Val229=) c.684G>A (p.Val228=) | gnomAD v4 |
| 16 | g.56870181G>C | CA495603118 | SLC12A3 | c.687G>C (p.Val229=) c.684G>C (p.Val228=) | |
| 16 | g.56870181G>T | CA495603119 | SLC12A3 | c.687G>T (p.Val229=) c.684G>T (p.Val228=) | ClinVar dbSNP |
| 16 | g.56870181_56870191delinsGGGTGTGGCCA | CA2224349316 | SLC12A3 | c.687_697delinsGGGTGTGGCCA (p.Val229=) c.684_694delinsGGGTGTGGCCA (p.Val228=) | |
| 16 | g.56870182G>A | CA395981992 | SLC12A3 | c.688G>A (p.Gly230Ser) c.685G>A (p.Gly229Ser) | |
| 16 | g.56870182G>C | CA395981993 | SLC12A3 | c.688G>C (p.Gly230Arg) c.685G>C (p.Gly229Arg) | |
| 16 | g.56870182G>T | CA395981994 | SLC12A3 | c.688G>T (p.Gly230Cys) c.685G>T (p.Gly229Cys) | |
| 16 | g.56870182_56870191del | CA622333954 | SLC12A3 | c.688_697del (p.Gly230CysfsTer?) c.685_694del (p.Gly229CysfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870183G>A | CA8069149 | SLC12A3 | c.689G>A (p.Gly230Asp) c.686G>A (p.Gly229Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870183G>C | CA395981995 | SLC12A3 | c.689G>C (p.Gly230Ala) c.686G>C (p.Gly229Ala) | |
| 16 | g.56870183G= | CA2224349317 | SLC12A3 | c.689G= (p.Gly230=) c.686G= (p.Gly229=) | |
| 16 | g.56870183G>T | CA395981996 | SLC12A3 | c.689G>T (p.Gly230Val) c.686G>T (p.Gly229Val) | |
| 16 | g.56870184T>A | CA495603120 | SLC12A3 | c.690T>A (p.Gly230=) c.687T>A (p.Gly229=) | |
| 16 | g.56870184T>C | CA495603121 | SLC12A3 | c.690T>C (p.Gly230=) c.687T>C (p.Gly229=) | |
| 16 | g.56870184T>G | CA495603122 | SLC12A3 | c.690T>G (p.Gly230=) c.687T>G (p.Gly229=) | |
| 16 | g.56870185G>A | CA395981997 | SLC12A3 | c.691G>A (p.Val231Met) c.688G>A (p.Val230Met) | dbSNP gnomAD v4 |
| 16 | g.56870185G>C | CA395981998 | SLC12A3 | c.691G>C (p.Val231Leu) c.688G>C (p.Val230Leu) | |
| 16 | g.56870185G= | CA2224349318 | SLC12A3 | c.691G= (p.Val231=) c.688G= (p.Val230=) | |
| 16 | g.56870185G>T | CA395981999 | SLC12A3 | c.691G>T (p.Val231Leu) c.688G>T (p.Val230Leu) | |
| 16 | g.56870186T>A | CA395982000 | SLC12A3 | c.692T>A (p.Val231Glu) c.689T>A (p.Val230Glu) | |
| 16 | g.56870186T>C | CA395982001 | SLC12A3 | c.692T>C (p.Val231Ala) c.689T>C (p.Val230Ala) | |
| 16 | g.56870186T>G | CA395982002 | SLC12A3 | c.692T>G (p.Val231Gly) c.689T>G (p.Val230Gly) | |
| 16 | g.56870187G>A | CA495603123 | SLC12A3 | c.693G>A (p.Val231=) c.690G>A (p.Val230=) | |
| 16 | g.56870187G>C | CA495603124 | SLC12A3 | c.693G>C (p.Val231=) c.690G>C (p.Val230=) | |
| 16 | g.56870187G>T | CA495603125 | SLC12A3 | c.693G>T (p.Val231=) c.690G>T (p.Val230=) | |
| 16 | g.56870187_56870189del | CA2695223672 | SLC12A3 | c.693_695del (p.Ala232del) c.690_692del (p.Ala231del) | |
| 16 | g.56870188G>A | CA8069150 | SLC12A3 | c.694G>A (p.Ala232Thr) c.691G>A (p.Ala231Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870188G>C | CA395982004 | SLC12A3 | c.694G>C (p.Ala232Pro) c.691G>C (p.Ala231Pro) | |
| 16 | g.56870188G= | CA2224349319 | SLC12A3 | c.694G= (p.Ala232=) c.691G= (p.Ala231=) | |
| 16 | g.56870188G>T | CA395982003 | SLC12A3 | c.694G>T (p.Ala232Ser) c.691G>T (p.Ala231Ser) | |
| 16 | g.56870189C>A | CA395982005 | SLC12A3 | c.695C>A (p.Ala232Asp) c.692C>A (p.Ala231Asp) | gnomAD v4 |
| 16 | g.56870189C= | CA2224349320 | SLC12A3 | c.695C= (p.Ala232=) c.692C= (p.Ala231=) | |
| 16 | g.56870189C>G | CA395982006 | SLC12A3 | c.695C>G (p.Ala232Gly) c.692C>G (p.Ala231Gly) | |
| 16 | g.56870189C>T | CA395982007 | SLC12A3 | c.695C>T (p.Ala232Val) c.692C>T (p.Ala231Val) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870190C>A | CA495603126 | SLC12A3 | c.696C>A (p.Ala232=) c.693C>A (p.Ala231=) | |
| 16 | g.56870190C>G | CA495603127 | SLC12A3 | c.696C>G (p.Ala232=) c.693C>G (p.Ala231=) | |
| 16 | g.56870190C>T | CA495603128 | SLC12A3 | c.696C>T (p.Ala232=) c.693C>T (p.Ala231=) | ClinVar |
| 16 | g.56870190_56870201del | CA2695223673 | SLC12A3 | c.696_707del (p.Met233_Val236del) c.693_704del (p.Met232_Val235del) | |
| 16 | g.56870191A= | CA2224349321 | SLC12A3 | c.697A= (p.Met233=) c.694A= (p.Met232=) | |
| 16 | g.56870191A>C | CA395982008 | SLC12A3 | c.697A>C (p.Met233Leu) c.694A>C (p.Met232Leu) | |
| 16 | g.56870191A>G | CA216098 | SLC12A3 | c.697A>G (p.Met233Val) c.694A>G (p.Met232Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56870191A>T | CA395982009 | SLC12A3 | c.697A>T (p.Met233Leu) c.694A>T (p.Met232Leu) | gnomAD v4 |
| 16 | g.56870191_56870199del | CA2633371196 | SLC12A3 | c.697_705del (p.Met233_Thr235del) c.694_702del (p.Met232_Thr234del) | gnomAD v4 |
| 16 | g.56870192T>A | CA395982010 | SLC12A3 | c.698T>A (p.Met233Lys) c.695T>A (p.Met232Lys) | |
| 16 | g.56870192T>C | CA395982011 | SLC12A3 | c.698T>C (p.Met233Thr) c.695T>C (p.Met232Thr) | |
| 16 | g.56870192T>G | CA395982012 | SLC12A3 | c.698T>G (p.Met233Arg) c.695T>G (p.Met232Arg) | |
| 16 | g.56870193G>A | CA395982013 | SLC12A3 | c.699G>A (p.Met233Ile) c.696G>A (p.Met232Ile) | |
| 16 | g.56870193G>C | CA395982014 | SLC12A3 | c.699G>C (p.Met233Ile) c.696G>C (p.Met232Ile) | |
| 16 | g.56870193G>T | CA395982015 | SLC12A3 | c.699G>T (p.Met233Ile) c.696G>T (p.Met232Ile) | |
| 16 | g.56870194C>A | CA395982018 | SLC12A3 | c.700C>A (p.His234Asn) c.697C>A (p.His233Asn) | |
| 16 | g.56870194C>G | CA395982017 | SLC12A3 | c.700C>G (p.His234Asp) c.697C>G (p.His233Asp) | |
| 16 | g.56870194C>T | CA395982016 | SLC12A3 | c.700C>T (p.His234Tyr) c.697C>T (p.His233Tyr) | |
| 16 | g.56870195A>C | CA395982019 | SLC12A3 | c.701A>C (p.His234Pro) c.698A>C (p.His233Pro) | |
| 16 | g.56870195A>G | CA395982021 | SLC12A3 | c.701A>G (p.His234Arg) c.698A>G (p.His233Arg) | |
| 16 | g.56870195A>T | CA395982020 | SLC12A3 | c.701A>T (p.His234Leu) c.698A>T (p.His233Leu) | |
| 16 | g.56870196C>A | CA395982022 | SLC12A3 | c.702C>A (p.His234Gln) c.699C>A (p.His233Gln) | |
| 16 | g.56870196C>G | CA395982023 | SLC12A3 | c.702C>G (p.His234Gln) c.699C>G (p.His233Gln) | |
| 16 | g.56870196C>T | CA495603129 | SLC12A3 | c.702C>T (p.His234=) c.699C>T (p.His233=) | |
| 16 | g.56870197A= | CA2224349322 | SLC12A3 | c.703A= (p.Thr235=) c.700A= (p.Thr234=) | |
| 16 | g.56870197A>C | CA395982024 | SLC12A3 | c.703A>C (p.Thr235Pro) c.700A>C (p.Thr234Pro) | |
| 16 | g.56870197A>G | CA395982025 | SLC12A3 | c.703A>G (p.Thr235Ala) c.700A>G (p.Thr234Ala) | gnomAD v4 |
| 16 | g.56870197A>T | CA395982026 | SLC12A3 | c.703A>T (p.Thr235Ser) c.700A>T (p.Thr234Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56870198C>A | CA395982027 | SLC12A3 | c.704C>A (p.Thr235Lys) c.701C>A (p.Thr234Lys) | |
| 16 | g.56870198C= | CA2224349323 | SLC12A3 | c.704C= (p.Thr235=) c.701C= (p.Thr234=) | |
| 16 | g.56870198C>G | CA395982028 | SLC12A3 | c.704C>G (p.Thr235Arg) c.701C>G (p.Thr234Arg) | gnomAD v4 |
| 16 | g.56870198C>T | CA8069151 | SLC12A3 | c.704C>T (p.Thr235Met) c.701C>T (p.Thr234Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870199G>A | CA8069152 | SLC12A3 | c.705G>A (p.Thr235=) c.702G>A (p.Thr234=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870199G>C | CA495603131 | SLC12A3 | c.705G>C (p.Thr235=) c.702G>C (p.Thr234=) | |
| 16 | g.56870199G= | CA2224349324 | SLC12A3 | c.705G= (p.Thr235=) c.702G= (p.Thr234=) | |
| 16 | g.56870199G>T | CA495603130 | SLC12A3 | c.705G>T (p.Thr235=) c.702G>T (p.Thr234=) | |
| 16 | g.56870200G>A | CA395982029 | SLC12A3 | c.706G>A (p.Val236Met) c.703G>A (p.Val235Met) | |
| 16 | g.56870200G>C | CA395982030 | SLC12A3 | c.706G>C (p.Val236Leu) c.703G>C (p.Val235Leu) | |
| 16 | g.56870200G= | CA2224349325 | SLC12A3 | c.706G= (p.Val236=) c.703G= (p.Val235=) | |
| 16 | g.56870200G>T | CA395982031 | SLC12A3 | c.706G>T (p.Val236Leu) c.703G>T (p.Val235Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870201T>A | CA395982032 | SLC12A3 | c.707T>A (p.Val236Glu) c.704T>A (p.Val235Glu) | |
| 16 | g.56870201T>C | CA395982033 | SLC12A3 | c.707T>C (p.Val236Ala) c.704T>C (p.Val235Ala) | gnomAD v4 |
| 16 | g.56870201T>G | CA395982034 | SLC12A3 | c.707T>G (p.Val236Gly) c.704T>G (p.Val235Gly) | |
| 16 | g.56870202G>A | CA495603134 | SLC12A3 | c.708G>A (p.Val236=) c.705G>A (p.Val235=) | |
| 16 | g.56870202G>C | CA495603133 | SLC12A3 | c.708G>C (p.Val236=) c.705G>C (p.Val235=) | |
| 16 | g.56870202G>T | CA495603132 | SLC12A3 | c.708G>T (p.Val236=) c.705G>T (p.Val235=) | |
| 16 | g.56870203G>A | CA395982035 | SLC12A3 | c.709G>A (p.Gly237Ser) c.706G>A (p.Gly236Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.56870203G>C | CA395982037 | SLC12A3 | c.709G>C (p.Gly237Arg) c.706G>C (p.Gly236Arg) | |
| 16 | g.56870203G= | CA2224349326 | SLC12A3 | c.709G= (p.Gly237=) c.706G= (p.Gly236=) | |
| 16 | g.56870203G>T | CA395982036 | SLC12A3 | c.709G>T (p.Gly237Cys) c.706G>T (p.Gly236Cys) | |
| 16 | g.56870204G>A | CA395982038 | SLC12A3 | c.710G>A (p.Gly237Asp) c.707G>A (p.Gly236Asp) | gnomAD v4 |
| 16 | g.56870204G>C | CA395982039 | SLC12A3 | c.710G>C (p.Gly237Ala) c.707G>C (p.Gly236Ala) | ClinVar |
| 16 | g.56870204G>T | CA395982040 | SLC12A3 | c.710G>T (p.Gly237Val) c.707G>T (p.Gly236Val) | |
| 16 | g.56870205C>A | CA495603135 | SLC12A3 | c.711C>A (p.Gly237=) c.708C>A (p.Gly236=) | ClinVar |
| 16 | g.56870205C= | CA2224349327 | SLC12A3 | c.711C= (p.Gly237=) c.708C= (p.Gly236=) | |
| 16 | g.56870205C>G | CA495603137 | SLC12A3 | c.711C>G (p.Gly237=) c.708C>G (p.Gly236=) | |
| 16 | g.56870205C>T | CA495603136 | SLC12A3 | c.711C>T (p.Gly237=) c.708C>T (p.Gly236=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870206T>A | CA395982041 | SLC12A3 | c.712T>A (p.Phe238Ile) c.709T>A (p.Phe237Ile) | |
| 16 | g.56870206T>C | CA395982042 | SLC12A3 | c.712T>C (p.Phe238Leu) c.709T>C (p.Phe237Leu) | |
| 16 | g.56870206T>G | CA395982043 | SLC12A3 | c.712T>G (p.Phe238Val) c.709T>G (p.Phe237Val) | |
| 16 | g.56870207T>A | CA395982044 | SLC12A3 | c.713T>A (p.Phe238Tyr) c.710T>A (p.Phe237Tyr) | |
| 16 | g.56870207T>C | CA395982045 | SLC12A3 | c.713T>C (p.Phe238Ser) c.710T>C (p.Phe237Ser) | |
| 16 | g.56870207T>G | CA395982046 | SLC12A3 | c.713T>G (p.Phe238Cys) c.710T>G (p.Phe237Cys) | |
| 16 | g.56870208T>A | CA395982047 | SLC12A3 | c.714T>A (p.Phe238Leu) c.711T>A (p.Phe237Leu) | |
| 16 | g.56870208T>C | CA495603138 | SLC12A3 | c.714T>C (p.Phe238=) c.711T>C (p.Phe237=) | ClinVar gnomAD v4 |
| 16 | g.56870208T>G | CA395982048 | SLC12A3 | c.714T>G (p.Phe238Leu) c.711T>G (p.Phe237Leu) | |
| 16 | g.56870209G>A | CA395982049 | SLC12A3 | c.715G>A (p.Ala239Thr) c.712G>A (p.Ala238Thr) | gnomAD v4 |
| 16 | g.56870209G>C | CA395982051 | SLC12A3 | c.715G>C (p.Ala239Pro) c.712G>C (p.Ala238Pro) | |
| 16 | g.56870209G>T | CA395982050 | SLC12A3 | c.715G>T (p.Ala239Ser) c.712G>T (p.Ala238Ser) | |
| 16 | g.56870210C>A | CA395982052 | SLC12A3 | c.716C>A (p.Ala239Glu) c.713C>A (p.Ala238Glu) | |
| 16 | g.56870210C>G | CA395982053 | SLC12A3 | c.716C>G (p.Ala239Gly) c.713C>G (p.Ala238Gly) | |
| 16 | g.56870210C>T | CA395982054 | SLC12A3 | c.716C>T (p.Ala239Val) c.713C>T (p.Ala238Val) | |
| 16 | g.56870211A>C | CA495603139 | SLC12A3 | c.717A>C (p.Ala239=) c.714A>C (p.Ala238=) | |
| 16 | g.56870211A>G | CA495603140 | SLC12A3 | c.717A>G (p.Ala239=) c.714A>G (p.Ala238=) | |
| 16 | g.56870211A>T | CA495603141 | SLC12A3 | c.717A>T (p.Ala239=) c.714A>T (p.Ala238=) | |
| 16 | g.56870212G>A | CA395982055 | SLC12A3 | c.718G>A (p.Glu240Lys) c.715G>A (p.Glu239Lys) | |
| 16 | g.56870212G>C | CA395982056 | SLC12A3 | c.718G>C (p.Glu240Gln) c.715G>C (p.Glu239Gln) | |
| 16 | g.56870212G>T | CA395982057 | SLC12A3 | c.718G>T (p.Glu240Ter) c.715G>T (p.Glu239Ter) | |
| 16 | g.56870213A>C | CA395982058 | SLC12A3 | c.719A>C (p.Glu240Ala) c.716A>C (p.Glu239Ala) | |
| 16 | g.56870213A>G | CA395982059 | SLC12A3 | c.719A>G (p.Glu240Gly) c.716A>G (p.Glu239Gly) | ClinVar dbSNP |
| 16 | g.56870213A>T | CA395982060 | SLC12A3 | c.719A>T (p.Glu240Val) c.716A>T (p.Glu239Val) | |
| 16 | g.56870214G>A | CA8069153 | SLC12A3 | c.720G>A (p.Glu240=) c.717G>A (p.Glu239=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870214G>C | CA395982061 | SLC12A3 | c.720G>C (p.Glu240Asp) c.717G>C (p.Glu239Asp) | |
| 16 | g.56870214G= | CA2224349328 | SLC12A3 | c.720G= (p.Glu240=) c.717G= (p.Glu239=) | |
| 16 | g.56870214G>T | CA395982062 | SLC12A3 | c.720G>T (p.Glu240Asp) c.717G>T (p.Glu239Asp) | |
| 16 | g.56870215A= | CA2224349329 | SLC12A3 | c.721A= (p.Thr241=) c.718A= (p.Thr240=) | |
| 16 | g.56870215A>C | CA395982064 | SLC12A3 | c.721A>C (p.Thr241Pro) c.718A>C (p.Thr240Pro) | gnomAD v4 |
| 16 | g.56870215A>G | CA8069154 | SLC12A3 | c.721A>G (p.Thr241Ala) c.718A>G (p.Thr240Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870215A>T | CA395982063 | SLC12A3 | c.721A>T (p.Thr241Ser) c.718A>T (p.Thr240Ser) | |
| 16 | g.56870216C>A | CA395982065 | SLC12A3 | c.722C>A (p.Thr241Asn) c.719C>A (p.Thr240Asn) | |
| 16 | g.56870216C= | CA2224349330 | SLC12A3 | c.722C= (p.Thr241=) c.719C= (p.Thr240=) | |
| 16 | g.56870216C>G | CA395982066 | SLC12A3 | c.722C>G (p.Thr241Ser) c.719C>G (p.Thr240Ser) | |
| 16 | g.56870216C>T | CA395982067 | SLC12A3 | c.722C>T (p.Thr241Ile) c.719C>T (p.Thr240Ile) | gnomAD v2 gnomAD v4 |
| 16 | g.56870217del | CA2697555854 | SLC12A3 | c.723del (p.Val242CysfsTer?) c.720del (p.Val241CysfsTer?) | ClinVar |
| 16 | g.56870217C>A | CA495603144 | SLC12A3 | c.723C>A (p.Thr241=) c.720C>A (p.Thr240=) | |
| 16 | g.56870217C= | CA2224349331 | SLC12A3 | c.723C= (p.Thr241=) c.720C= (p.Thr240=) | |
| 16 | g.56870217C>G | CA495603145 | SLC12A3 | c.723C>G (p.Thr241=) c.720C>G (p.Thr240=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870217C>T | CA8069155 | SLC12A3 | c.723C>T (p.Thr241=) c.720C>T (p.Thr240=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56870219_56870222dup | CA622333971 | SLC12A3 | c.725_728dup (p.Asp244AlafsTer16) c.722_725dup (p.Asp243AlafsTer16) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870217_56870218insTGCTCCAGGTGAGGCCTG | CA2224349332 | SLC12A3 | c.723_724insTGCTCCAGGTGAGGCCTG c.720_721insTGCTCCAGGTGAGGCCTG | dbSNP |
| 16 | g.56870218G>A | CA8069157 | SLC12A3 | c.724G>A (p.Val242Met) c.721G>A (p.Val241Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56870218G>C | CA395982068 | SLC12A3 | c.724G>C (p.Val242Leu) c.721G>C (p.Val241Leu) | dbSNP |
| 16 | g.56870218G= | CA2224349333 | SLC12A3 | c.724G= (p.Val242=) c.721G= (p.Val241=) | |
| 16 | g.56870218G>T | CA8069156 | SLC12A3 | c.724G>T (p.Val242Leu) c.721G>T (p.Val241Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870219_56870220del | CA2695223674 | SLC12A3 | c.725_726del (p.Val242AlafsTer16) c.722_723del (p.Val241AlafsTer16) | |
| 16 | g.56870219T>A | CA395982069 | SLC12A3 | c.725T>A (p.Val242Glu) c.722T>A (p.Val241Glu) | |
| 16 | g.56870219T>C | CA8069158 | SLC12A3 | c.725T>C (p.Val242Ala) c.722T>C (p.Val241Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870219T>G | CA395982070 | SLC12A3 | c.725T>G (p.Val242Gly) c.722T>G (p.Val241Gly) | |
| 16 | g.56870219T= | CA2224349334 | SLC12A3 | c.725T= (p.Val242=) c.722T= (p.Val241=) | |
| 16 | g.56870222_56870230del | CA2633371244 | SLC12A3 | c.728_736del (p.Arg243_Leu245del) c.725_733del (p.Arg242_Leu244del) | gnomAD v4 |
| 16 | g.56870220G>A | CA8069159 | SLC12A3 | c.726G>A (p.Val242=) c.723G>A (p.Val241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870220G>C | CA495603146 | SLC12A3 | c.726G>C (p.Val242=) c.723G>C (p.Val241=) | |
| 16 | g.56870220G= | CA2224349335 | SLC12A3 | c.726G= (p.Val242=) c.723G= (p.Val241=) | |
| 16 | g.56870220G>T | CA495603147 | SLC12A3 | c.726G>T (p.Val242=) c.723G>T (p.Val241=) | gnomAD v4 |
| 16 | g.56870221C>A | CA495603148 | SLC12A3 | c.727C>A (p.Arg243=) c.724C>A (p.Arg242=) | gnomAD v4 |
| 16 | g.56870221C= | CA2224349336 | SLC12A3 | c.727C= (p.Arg243=) c.724C= (p.Arg242=) | |
| 16 | g.56870221C>G | CA395982071 | SLC12A3 | c.727C>G (p.Arg243Gly) c.724C>G (p.Arg242Gly) | gnomAD v4 |
| 16 | g.56870221C>T | CA8069160 | SLC12A3 | c.727C>T (p.Arg243Trp) c.724C>T (p.Arg242Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56870221_56870222insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT | CA2633371254 | SLC12A3 | c.727_728insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT (p.Arg243ProfsTer?) c.724_725insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT (p.Arg242ProfsTer?) | gnomAD v4 |
| 16 | g.56870222G>A | CA8069161 | SLC12A3 | c.728G>A (p.Arg243Gln) c.725G>A (p.Arg242Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870222G>C | CA395982073 | SLC12A3 | c.728G>C (p.Arg243Pro) c.725G>C (p.Arg242Pro) | |
| 16 | g.56870222G= | CA2224349337 | SLC12A3 | c.728G= (p.Arg243=) c.725G= (p.Arg242=) | |
| 16 | g.56870222G>T | CA395982072 | SLC12A3 | c.728G>T (p.Arg243Leu) c.725G>T (p.Arg242Leu) | |
| 16 | g.56870223G>A | CA495603149 | SLC12A3 | c.729G>A (p.Arg243=) c.726G>A (p.Arg242=) | |
| 16 | g.56870223G>C | CA495603150 | SLC12A3 | c.729G>C (p.Arg243=) c.726G>C (p.Arg242=) | |
| 16 | g.56870223G>T | CA495603151 | SLC12A3 | c.729G>T (p.Arg243=) c.726G>T (p.Arg242=) | |
| 16 | g.56870224G>A | CA395982074 | SLC12A3 | c.730G>A (p.Asp244Asn) c.727G>A (p.Asp243Asn) | gnomAD v4 |
| 16 | g.56870224G>C | CA395982075 | SLC12A3 | c.730G>C (p.Asp244His) c.727G>C (p.Asp243His) | gnomAD v4 |
| 16 | g.56870224G>T | CA395982076 | SLC12A3 | c.730G>T (p.Asp244Tyr) c.727G>T (p.Asp243Tyr) | gnomAD v4 |
| 16 | g.56870225A>C | CA395982077 | SLC12A3 | c.731A>C (p.Asp244Ala) c.728A>C (p.Asp243Ala) | |
| 16 | g.56870225A>G | CA395982078 | SLC12A3 | c.731A>G (p.Asp244Gly) c.728A>G (p.Asp243Gly) | |
| 16 | g.56870225A>T | CA395982079 | SLC12A3 | c.731A>T (p.Asp244Val) c.728A>T (p.Asp243Val) | |
| 16 | g.56870226C>A | CA8069162 | SLC12A3 | c.732C>A (p.Asp244Glu) c.729C>A (p.Asp243Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870226C= | CA2224349338 | SLC12A3 | c.732C= (p.Asp244=) c.729C= (p.Asp243=) | |
| 16 | g.56870226C>G | CA395982080 | SLC12A3 | c.732C>G (p.Asp244Glu) c.729C>G (p.Asp243Glu) | |
| 16 | g.56870226C>T | CA495603152 | SLC12A3 | c.732C>T (p.Asp244=) c.729C>T (p.Asp243=) | ClinVar gnomAD v4 |
| 16 | g.56870227C>A | CA8069163 | SLC12A3 | c.733C>A (p.Leu245Met) c.730C>A (p.Leu244Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870227C= | CA2224349339 | SLC12A3 | c.733C= (p.Leu245=) c.730C= (p.Leu244=) | |
| 16 | g.56870227C>G | CA395982081 | SLC12A3 | c.733C>G (p.Leu245Val) c.730C>G (p.Leu244Val) | |
| 16 | g.56870227C>T | CA495603153 | SLC12A3 | c.733C>T (p.Leu245=) c.730C>T (p.Leu244=) | gnomAD v4 |
| 16 | g.56870228T>A | CA395982082 | SLC12A3 | c.734T>A (p.Leu245Gln) c.731T>A (p.Leu244Gln) | |
| 16 | g.56870228T>C | CA8069164 | SLC12A3 | c.734T>C (p.Leu245Pro) c.731T>C (p.Leu244Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870228T>G | CA395982083 | SLC12A3 | c.734T>G (p.Leu245Arg) c.731T>G (p.Leu244Arg) | |
| 16 | g.56870228T= | CA2224349340 | SLC12A3 | c.734T= (p.Leu245=) c.731T= (p.Leu244=) | |
| 16 | g.56870229G>A | CA8069165 | SLC12A3 | c.735G>A (p.Leu245=) c.732G>A (p.Leu244=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870229G>C | CA495603154 | SLC12A3 | c.735G>C (p.Leu245=) c.732G>C (p.Leu244=) | dbSNP gnomAD v2 |
| 16 | g.56870229G= | CA2224349341 | SLC12A3 | c.735G= (p.Leu245=) c.732G= (p.Leu244=) | |
| 16 | g.56870229G>T | CA495603155 | SLC12A3 | c.735G>T (p.Leu245=) c.732G>T (p.Leu244=) | |
| 16 | g.56870230C>A | CA395982084 | SLC12A3 | c.736C>A (p.Leu246Ile) c.733C>A (p.Leu245Ile) | dbSNP gnomAD v4 |
| 16 | g.56870230C= | CA2224349342 | SLC12A3 | c.736C= (p.Leu246=) c.733C= (p.Leu245=) | |
| 16 | g.56870230C>G | CA395982085 | SLC12A3 | c.736C>G (p.Leu246Val) c.733C>G (p.Leu245Val) | |
| 16 | g.56870230C>T | CA395982086 | SLC12A3 | c.736C>T (p.Leu246Phe) c.733C>T (p.Leu245Phe) | gnomAD v4 |
| 16 | g.56870231T>A | CA395982087 | SLC12A3 | c.737T>A (p.Leu246His) c.734T>A (p.Leu245His) | |
| 16 | g.56870231T>C | CA395982088 | SLC12A3 | c.737T>C (p.Leu246Pro) c.734T>C (p.Leu245Pro) | gnomAD v4 |
| 16 | g.56870231T>G | CA395982089 | SLC12A3 | c.737T>G (p.Leu246Arg) c.734T>G (p.Leu245Arg) | |
| 16 | g.56870232C>A | CA495603156 | SLC12A3 | c.738C>A (p.Leu246=) c.735C>A (p.Leu245=) | dbSNP gnomAD v2 |
| 16 | g.56870232C= | CA2224349343 | SLC12A3 | c.738C= (p.Leu246=) c.735C= (p.Leu245=) | |
| 16 | g.56870232C>G | CA495603158 | SLC12A3 | c.738C>G (p.Leu246=) c.735C>G (p.Leu245=) | ClinVar dbSNP |
| 16 | g.56870232C>T | CA495603157 | SLC12A3 | c.738C>T (p.Leu246=) c.735C>T (p.Leu245=) | ClinVar dbSNP |
| 16 | g.56870233C>A | CA395982090 | SLC12A3 | c.739C>A (p.Gln247Lys) c.736C>A (p.Gln246Lys) | |
| 16 | g.56870233C>G | CA395982091 | SLC12A3 | c.739C>G (p.Gln247Glu) c.736C>G (p.Gln246Glu) | |
| 16 | g.56870233C>T | CA395982092 | SLC12A3 | c.739C>T (p.Gln247Ter) c.736C>T (p.Gln246Ter) | |
| 16 | g.56870234A>C | CA395982093 | SLC12A3 | c.740A>C (p.Gln247Pro) c.737A>C (p.Gln246Pro) | gnomAD v4 |
| 16 | g.56870234A>G | CA395982094 | SLC12A3 | c.740A>G (p.Gln247Arg) c.737A>G (p.Gln246Arg) | gnomAD v4 |
| 16 | g.56870234A>T | CA395982095 | SLC12A3 | c.740A>T (p.Gln247Leu) c.737A>T (p.Gln246Leu) | |
| 16 | g.56870235G>A | CA495603159 | SLC12A3 | c.741G>A (p.Gln247=) c.738G>A (p.Gln246=) | gnomAD v4 |
| 16 | g.56870235G>C | CA395982096 | SLC12A3 | c.741G>C (p.Gln247His) c.738G>C (p.Gln246His) | |
| 16 | g.56870235G>T | CA395982097 | SLC12A3 | c.741G>T (p.Gln247His) c.738G>T (p.Gln246His) | |
| 16 | g.56870236G>A | CA395982098 | SLC12A3 | c.741+1G>A (n.741+1G>A) c.738+1G>A (n.738+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870236G>C | CA395982100 | SLC12A3 | c.741+1G>C (n.741+1G>C) c.738+1G>C (n.738+1G>C) | |
| 16 | g.56870236G= | CA2224349344 | SLC12A3 | c.741+1G= (n.741+1G=) c.738+1G= (n.738+1G=) | |
| 16 | g.56870236G>T | CA395982099 | SLC12A3 | c.741+1G>T (n.741+1G>T) c.738+1G>T (n.738+1G>T) | gnomAD v4 |
| 16 | g.56870237_56870240dup | CA2633371272 | SLC12A3 | c.741+2_741+5dup (n.741+2_741+5dup) c.738+2_738+5dup (n.738+2_738+5dup) | gnomAD v4 |
| 16 | g.56870237T>A | CA395982101 | SLC12A3 | c.741+2T>A (n.741+2T>A) c.738+2T>A (n.738+2T>A) | |
| 16 | g.56870237T>C | CA395982102 | SLC12A3 | c.741+2T>C (n.741+2T>C) c.738+2T>C (n.738+2T>C) | gnomAD v3 gnomAD v4 |
| 16 | g.56870237T>G | CA395982103 | SLC12A3 | c.741+2T>G (n.741+2T>G) c.738+2T>G (n.738+2T>G) | ClinVar gnomAD v4 |
| 16 | g.56870238G>A | CA622333988 | SLC12A3 | c.741+3G>A (n.741+3G>A) c.738+3G>A (n.738+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870238G= | CA2224349345 | SLC12A3 | c.741+3G= (n.741+3G=) c.738+3G= (n.738+3G=) | |
| 16 | g.56870238G>T | CA2633371288 | SLC12A3 | c.741+3G>T (n.741+3G>T) c.738+3G>T (n.738+3G>T) | gnomAD v4 |
| 16 | g.56870239A>C | CA2633371290 | SLC12A3 | c.741+4A>C (n.741+4A>C) c.738+4A>C (n.738+4A>C) | gnomAD v4 |
| 16 | g.56870239A>G | CA2697555855 | SLC12A3 | c.741+4A>G (n.741+4A>G) c.738+4A>G (n.738+4A>G) | ClinVar |
| 16 | g.56870240G>A | CA2633371291 | SLC12A3 | c.741+5G>A (n.741+5G>A) c.738+5G>A (n.738+5G>A) | gnomAD v4 |
| 16 | g.56870241G>A | CA977638134 | SLC12A3 | c.741+6G>A (n.741+6G>A) c.738+6G>A (n.738+6G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56870241G= | CA2224349346 | SLC12A3 | c.741+6G= (n.741+6G=) c.738+6G= (n.738+6G=) | |
| 16 | g.56870241G>T | CA2633371292 | SLC12A3 | c.741+6G>T (n.741+6G>T) c.738+6G>T (n.738+6G>T) | gnomAD v4 |
| 16 | g.56870242C>A | CA2633371293 | SLC12A3 | c.741+7C>A (n.741+7C>A) c.738+7C>A (n.738+7C>A) | gnomAD v4 |
| 16 | g.56870242C= | CA2224349347 | SLC12A3 | c.741+7C= (n.741+7C=) c.738+7C= (n.738+7C=) | |
| 16 | g.56870242C>T | CA8069166 | SLC12A3 | c.741+7C>T (n.741+7C>T) c.738+7C>T (n.738+7C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870243C>A | CA722005303 | SLC12A3 | c.741+8C>A (n.741+8C>A) c.738+8C>A (n.738+8C>A) | dbSNP |
| 16 | g.56870243C= | CA2224349349 | SLC12A3 | c.741+8C= (n.741+8C=) c.738+8C= (n.738+8C=) | |
| 16 | g.56870243C>G | CA8069169 | SLC12A3 | c.741+8C>G (n.741+8C>G) c.738+8C>G (n.738+8C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870243C>T | CA8069167 | SLC12A3 | c.741+8C>T (n.741+8C>T) c.738+8C>T (n.738+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870243_56870244delinsCG | CA2224349348 | SLC12A3 | c.741+8_741+9delinsCG (n.741+8_741+9delinsCG) c.738+8_738+9delinsCG (n.738+8_738+9delinsCG) | |
| 16 | g.56870244G>A | CA8069170 | SLC12A3 | c.741+9G>A (n.741+9G>A) c.738+9G>A (n.738+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870244G= | CA2224349350 | SLC12A3 | c.741+9G= (n.741+9G=) c.738+9G= (n.738+9G=) | |
| 16 | g.56870244G>T | CA622333994 | SLC12A3 | c.741+9G>T (n.741+9G>T) c.738+9G>T (n.738+9G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870249dup | CA622333997 | SLC12A3 | c.741+14dup (n.741+14dup) c.738+14dup (n.738+14dup) | ClinVar gnomAD v2 gnomAD v4 |
| 16 | g.56870249del | CA8069168 | SLC12A3 | c.741+14del (n.741+14del) c.738+14del (n.738+14del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870245G>A | CA2576001961 | SLC12A3 | c.741+10G>A (n.741+10G>A) c.738+10G>A (n.738+10G>A) | |
| 16 | g.56870245G>C | CA2697555856 | SLC12A3 | c.741+10G>C (n.741+10G>C) c.738+10G>C (n.738+10G>C) | ClinVar |
| 16 | g.56870245G>T | CA2633371304 | SLC12A3 | c.741+10G>T (n.741+10G>T) c.738+10G>T (n.738+10G>T) | gnomAD v4 |
| 16 | g.56870246G>A | CA977638150 | SLC12A3 | c.741+11G>A (n.741+11G>A) c.738+11G>A (n.738+11G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56870246G>C | CA2633371306 | SLC12A3 | c.741+11G>C (n.741+11G>C) c.738+11G>C (n.738+11G>C) | gnomAD v4 |
| 16 | g.56870246G= | CA2224349351 | SLC12A3 | c.741+11G= (n.741+11G=) c.738+11G= (n.738+11G=) | |
| 16 | g.56870246G>T | CA2633371307 | SLC12A3 | c.741+11G>T (n.741+11G>T) c.738+11G>T (n.738+11G>T) | gnomAD v4 |
| 16 | g.56870247G>T | CA2576001963 | SLC12A3 | c.741+12G>T (n.741+12G>T) c.738+12G>T (n.738+12G>T) | ClinVar gnomAD v4 |
| 16 | g.56870248G>A | CA8069172 | SLC12A3 | c.741+13G>A (n.741+13G>A) c.738+13G>A (n.738+13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870248G= | CA2224349352 | SLC12A3 | c.741+13G= (n.741+13G=) c.738+13G= (n.738+13G=) | |
| 16 | g.56870248G>T | CA8069171 | SLC12A3 | c.741+13G>T (n.741+13G>T) c.738+13G>T (n.738+13G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870249G>A | CA8069173 | SLC12A3 | c.741+14G>A (n.741+14G>A) c.738+14G>A (n.738+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870249G>C | CA622334008 | SLC12A3 | c.741+14G>C (n.741+14G>C) c.738+14G>C (n.738+14G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870249G= | CA2224349353 | SLC12A3 | c.741+14G= (n.741+14G=) c.738+14G= (n.738+14G=) | |
| 16 | g.56870249G>T | CA2633371311 | SLC12A3 | c.741+14G>T (n.741+14G>T) c.738+14G>T (n.738+14G>T) | gnomAD v4 |
| 16 | g.56870250C= | CA2224349354 | SLC12A3 | c.741+15C= (n.741+15C=) c.738+15C= (n.738+15C=) | |
| 16 | g.56870250C>T | CA622334009 | SLC12A3 | c.741+15C>T (n.741+15C>T) c.738+15C>T (n.738+15C>T) | dbSNP gnomAD v2 gnomAD v4 |