Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.3234182_3234189dupCA2580614987SLC4A11c.425_432dup (p.Arg145AlafsTer?)
c.356_363dup (p.Arg122AlafsTer?)
c.368_375dup (p.Arg126AlafsTer?)
c.473_480dup (p.Arg161AlafsTer?)
c.554_561dup (p.Arg188AlafsTer?)
c.908_915dup (p.Arg306AlafsTer?)
c.392_399dup (p.Arg134AlafsTer?)
n.593_600dup
n.1018_1025dup
n.983_990dup
ClinVar dbSNP gnomAD v4
20g.3234182_3234189delCA358681SLC4A11c.425_432del (p.Arg142GlnfsTer4)
c.356_363del (p.Arg119GlnfsTer4)
c.368_375del (p.Arg123GlnfsTer4)
c.473_480del (p.Arg158GlnfsTer4)
c.554_561del (p.Arg185GlnfsTer4)
c.908_915del (p.Arg303GlnfsTer4)
c.392_399del (p.Arg131GlnfsTer4)
n.593_600del
n.1018_1025del
n.983_990del
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.3234176_3234182delCA310994490SLC4A11c.425_431del (p.Arg142ProfsTer?)
c.356_362del (p.Arg119ProfsTer?)
c.368_374del (p.Arg123ProfsTer?)
c.473_479del (p.Arg158ProfsTer?)
c.554_560del (p.Arg185ProfsTer?)
c.908_914del (p.Arg303ProfsTer?)
c.392_398del (p.Arg131ProfsTer?)
n.593_599del
n.1018_1024del
n.983_989del
dbSNP gnomAD v2 gnomAD v4
20g.3234178_3234198delinsAAGCGGCGAAGCATGGTCCGCCA2346477985SLC4A11c.408_428delinsGCGGACCATGCTTCGCCGCTT (p.Leu136=)
c.339_359delinsGCGGACCATGCTTCGCCGCTT (p.Leu113=)
c.351_371delinsGCGGACCATGCTTCGCCGCTT (p.Leu117=)
c.456_476delinsGCGGACCATGCTTCGCCGCTT (p.Leu152=)
c.537_557delinsGCGGACCATGCTTCGCCGCTT (p.Leu179=)
c.891_911delinsGCGGACCATGCTTCGCCGCTT (p.Leu297=)
c.375_395delinsGCGGACCATGCTTCGCCGCTT (p.Leu125=)
n.576_596delinsGCGGACCATGCTTCGCCGCTT
n.1001_1021delinsGCGGACCATGCTTCGCCGCTT
n.966_986delinsGCGGACCATGCTTCGCCGCTT
20g.3234182_3234201delCA743609597SLC4A11c.408_427del (p.Thr138GlnfsTer4)
c.339_358del (p.Thr115GlnfsTer4)
c.351_370del (p.Thr119GlnfsTer4)
c.456_475del (p.Thr154GlnfsTer4)
c.537_556del (p.Thr181GlnfsTer4)
c.891_910del (p.Thr299GlnfsTer4)
c.375_394del (p.Thr127GlnfsTer4)
n.576_595del
n.1001_1020del
n.966_985del
dbSNP
20g.3234182G>ACA9742297SLC4A11c.424C>T (p.Arg142Cys)
c.355C>T (p.Arg119Cys)
c.367C>T (p.Arg123Cys)
c.472C>T (p.Arg158Cys)
c.553C>T (p.Arg185Cys)
c.907C>T (p.Arg303Cys)
c.391C>T (p.Arg131Cys)
n.592C>T
n.1017C>T
n.982C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234182G>CCA408093723SLC4A11c.424C>G (p.Arg142Gly)
c.355C>G (p.Arg119Gly)
c.367C>G (p.Arg123Gly)
c.472C>G (p.Arg158Gly)
c.553C>G (p.Arg185Gly)
c.907C>G (p.Arg303Gly)
c.391C>G (p.Arg131Gly)
n.592C>G
n.1017C>G
n.982C>G
20g.3234182G=CA2346477989SLC4A11c.424C= (p.Arg142=)
c.355C= (p.Arg119=)
c.367C= (p.Arg123=)
c.472C= (p.Arg158=)
c.553C= (p.Arg185=)
c.907C= (p.Arg303=)
c.391C= (p.Arg131=)
n.592C=
n.1017C=
n.982C=
20g.3234182G>TCA408093725SLC4A11c.424C>A (p.Arg142Ser)
c.355C>A (p.Arg119Ser)
c.367C>A (p.Arg123Ser)
c.472C>A (p.Arg158Ser)
c.553C>A (p.Arg185Ser)
c.907C>A (p.Arg303Ser)
c.391C>A (p.Arg131Ser)
n.592C>A
n.1017C>A
n.982C>A
20g.3234183G>ACA509559134SLC4A11c.423C>T (p.Arg141=)
c.354C>T (p.Arg118=)
c.366C>T (p.Arg122=)
c.471C>T (p.Arg157=)
c.552C>T (p.Arg184=)
c.906C>T (p.Arg302=)
c.390C>T (p.Arg130=)
n.591C>T
n.1016C>T
n.981C>T
ClinVar
20g.3234183G>CCA509559135SLC4A11c.423C>G (p.Arg141=)
c.354C>G (p.Arg118=)
c.366C>G (p.Arg122=)
c.471C>G (p.Arg157=)
c.552C>G (p.Arg184=)
c.906C>G (p.Arg302=)
c.390C>G (p.Arg130=)
n.591C>G
n.1016C>G
n.981C>G
20g.3234183G>TCA509559136SLC4A11c.423C>A (p.Arg141=)
c.354C>A (p.Arg118=)
c.366C>A (p.Arg122=)
c.471C>A (p.Arg157=)
c.552C>A (p.Arg184=)
c.906C>A (p.Arg302=)
c.390C>A (p.Arg130=)
n.591C>A
n.1016C>A
n.981C>A
20g.3234183_3234184insTACA2504024690SLC4A11c.422_423insTA (p.Arg142ThrfsTer?)
c.353_354insTA (p.Arg119ThrfsTer?)
c.365_366insTA (p.Arg123ThrfsTer?)
c.470_471insTA (p.Arg158ThrfsTer?)
c.551_552insTA (p.Arg185ThrfsTer?)
c.905_906insTA (p.Arg303ThrfsTer?)
c.389_390insTA (p.Arg131ThrfsTer?)
n.590_591insTA
n.1015_1016insTA
n.980_981insTA
20g.3234184delCA2538120104SLC4A11c.422del (p.Arg141ProfsTer?)
c.353del (p.Arg118ProfsTer?)
c.365del (p.Arg122ProfsTer?)
c.470del (p.Arg157ProfsTer?)
c.551del (p.Arg184ProfsTer?)
c.905del (p.Arg302ProfsTer?)
c.389del (p.Arg130ProfsTer?)
n.590del
n.1015del
n.980del
20g.3234184C>ACA408093729SLC4A11c.422G>T (p.Arg141Leu)
c.353G>T (p.Arg118Leu)
c.365G>T (p.Arg122Leu)
c.470G>T (p.Arg157Leu)
c.551G>T (p.Arg184Leu)
c.905G>T (p.Arg302Leu)
c.389G>T (p.Arg130Leu)
n.590G>T
n.1015G>T
n.980G>T
20g.3234184C=CA2346477990SLC4A11c.422G= (p.Arg141=)
c.353G= (p.Arg118=)
c.365G= (p.Arg122=)
c.470G= (p.Arg157=)
c.551G= (p.Arg184=)
c.905G= (p.Arg302=)
c.389G= (p.Arg130=)
n.590G=
n.1015G=
n.980G=
20g.3234184C>GCA408093732SLC4A11c.422G>C (p.Arg141Pro)
c.353G>C (p.Arg118Pro)
c.365G>C (p.Arg122Pro)
c.470G>C (p.Arg157Pro)
c.551G>C (p.Arg184Pro)
c.905G>C (p.Arg302Pro)
c.389G>C (p.Arg130Pro)
n.590G>C
n.1015G>C
n.980G>C
dbSNP gnomAD v2 gnomAD v4
20g.3234184C>TCA9742298SLC4A11c.422G>A (p.Arg141His)
c.353G>A (p.Arg118His)
c.365G>A (p.Arg122His)
c.470G>A (p.Arg157His)
c.551G>A (p.Arg184His)
c.905G>A (p.Arg302His)
c.389G>A (p.Arg130His)
n.590G>A
n.1015G>A
n.980G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.3234185G>ACA9742299SLC4A11c.421C>T (p.Arg141Cys)
c.352C>T (p.Arg118Cys)
c.364C>T (p.Arg122Cys)
c.469C>T (p.Arg157Cys)
c.550C>T (p.Arg184Cys)
c.904C>T (p.Arg302Cys)
c.388C>T (p.Arg130Cys)
n.589C>T
n.1014C>T
n.979C>T
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.3234185G>CCA408093739SLC4A11c.421C>G (p.Arg141Gly)
c.352C>G (p.Arg118Gly)
c.364C>G (p.Arg122Gly)
c.469C>G (p.Arg157Gly)
c.550C>G (p.Arg184Gly)
c.904C>G (p.Arg302Gly)
c.388C>G (p.Arg130Gly)
n.589C>G
n.1014C>G
n.979C>G
20g.3234185G=CA2346477991SLC4A11c.421C= (p.Arg141=)
c.352C= (p.Arg118=)
c.364C= (p.Arg122=)
c.469C= (p.Arg157=)
c.550C= (p.Arg184=)
c.904C= (p.Arg302=)
c.388C= (p.Arg130=)
n.589C=
n.1014C=
n.979C=
20g.3234185G>TCA408093740SLC4A11c.421C>A (p.Arg141Ser)
c.352C>A (p.Arg118Ser)
c.364C>A (p.Arg122Ser)
c.469C>A (p.Arg157Ser)
c.550C>A (p.Arg184Ser)
c.904C>A (p.Arg302Ser)
c.388C>A (p.Arg130Ser)
n.589C>A
n.1014C>A
n.979C>A
20g.3234185_3234186delCA2559128147SLC4A11c.420_421del (p.Arg141ProfsTer7)
c.351_352del (p.Arg118ProfsTer7)
c.363_364del (p.Arg122ProfsTer7)
c.468_469del (p.Arg157ProfsTer7)
c.549_550del (p.Arg184ProfsTer7)
c.903_904del (p.Arg302ProfsTer7)
c.387_388del (p.Arg130ProfsTer7)
n.588_589del
n.1013_1014del
n.978_979del
20g.3234186A>CCA509559137SLC4A11c.420T>G (p.Leu140=)
c.351T>G (p.Leu117=)
c.363T>G (p.Leu121=)
c.468T>G (p.Leu156=)
c.549T>G (p.Leu183=)
c.903T>G (p.Leu301=)
c.387T>G (p.Leu129=)
n.588T>G
n.1013T>G
n.978T>G
20g.3234186A>GCA509559138SLC4A11c.420T>C (p.Leu140=)
c.351T>C (p.Leu117=)
c.363T>C (p.Leu121=)
c.468T>C (p.Leu156=)
c.549T>C (p.Leu183=)
c.903T>C (p.Leu301=)
c.387T>C (p.Leu129=)
n.588T>C
n.1013T>C
n.978T>C
20g.3234186A>TCA509559139SLC4A11c.420T>A (p.Leu140=)
c.351T>A (p.Leu117=)
c.363T>A (p.Leu121=)
c.468T>A (p.Leu156=)
c.549T>A (p.Leu183=)
c.903T>A (p.Leu301=)
c.387T>A (p.Leu129=)
n.588T>A
n.1013T>A
n.978T>A
20g.3234186_3234187insCCA2559977751SLC4A11c.419_420insG (p.Arg141SerfsTer8)
c.350_351insG (p.Arg118SerfsTer8)
c.362_363insG (p.Arg122SerfsTer8)
c.467_468insG (p.Arg157SerfsTer8)
c.548_549insG (p.Arg184SerfsTer8)
c.902_903insG (p.Arg302SerfsTer8)
c.386_387insG (p.Arg130SerfsTer8)
n.587_588insG
n.1012_1013insG
n.977_978insG
20g.3234187A>CCA408093743SLC4A11c.419T>G (p.Leu140Arg)
c.350T>G (p.Leu117Arg)
c.362T>G (p.Leu121Arg)
c.467T>G (p.Leu156Arg)
c.548T>G (p.Leu183Arg)
c.902T>G (p.Leu301Arg)
c.386T>G (p.Leu129Arg)
n.587T>G
n.1012T>G
n.977T>G
20g.3234187A>GCA408093745SLC4A11c.419T>C (p.Leu140Pro)
c.350T>C (p.Leu117Pro)
c.362T>C (p.Leu121Pro)
c.467T>C (p.Leu156Pro)
c.548T>C (p.Leu183Pro)
c.902T>C (p.Leu301Pro)
c.386T>C (p.Leu129Pro)
n.587T>C
n.1012T>C
n.977T>C
20g.3234187A>TCA408093746SLC4A11c.419T>A (p.Leu140His)
c.350T>A (p.Leu117His)
c.362T>A (p.Leu121His)
c.467T>A (p.Leu156His)
c.548T>A (p.Leu183His)
c.902T>A (p.Leu301His)
c.386T>A (p.Leu129His)
n.587T>A
n.1012T>A
n.977T>A
20g.3234188G>ACA408093749SLC4A11c.418C>T (p.Leu140Phe)
c.349C>T (p.Leu117Phe)
c.361C>T (p.Leu121Phe)
c.466C>T (p.Leu156Phe)
c.547C>T (p.Leu183Phe)
c.901C>T (p.Leu301Phe)
c.385C>T (p.Leu129Phe)
n.586C>T
n.1011C>T
n.976C>T
20g.3234188G>CCA408093751SLC4A11c.418C>G (p.Leu140Val)
c.349C>G (p.Leu117Val)
c.361C>G (p.Leu121Val)
c.466C>G (p.Leu156Val)
c.547C>G (p.Leu183Val)
c.901C>G (p.Leu301Val)
c.385C>G (p.Leu129Val)
n.586C>G
n.1011C>G
n.976C>G
gnomAD v4
20g.3234188G>TCA408093753SLC4A11c.418C>A (p.Leu140Ile)
c.349C>A (p.Leu117Ile)
c.361C>A (p.Leu121Ile)
c.466C>A (p.Leu156Ile)
c.547C>A (p.Leu183Ile)
c.901C>A (p.Leu301Ile)
c.385C>A (p.Leu129Ile)
n.586C>A
n.1011C>A
n.976C>A
gnomAD v4
20g.3234188_3234210dupCA2651691936SLC4A11c.396_418dup (p.Leu140ArgfsTer?)
c.327_349dup (p.Leu117ArgfsTer?)
c.339_361dup (p.Leu121ArgfsTer?)
c.444_466dup (p.Leu156ArgfsTer?)
c.525_547dup (p.Leu183ArgfsTer?)
c.879_901dup (p.Leu301ArgfsTer?)
c.363_385dup (p.Leu129ArgfsTer?)
n.564_586dup
n.989_1011dup
n.954_976dup
gnomAD v4
20g.3234189C>ACA408093756SLC4A11c.417G>T (p.Met139Ile)
c.348G>T (p.Met116Ile)
c.360G>T (p.Met120Ile)
c.465G>T (p.Met155Ile)
c.546G>T (p.Met182Ile)
c.900G>T (p.Met300Ile)
c.384G>T (p.Met128Ile)
n.585G>T
n.1010G>T
n.975G>T
20g.3234189C>GCA408093760SLC4A11c.417G>C (p.Met139Ile)
c.348G>C (p.Met116Ile)
c.360G>C (p.Met120Ile)
c.465G>C (p.Met155Ile)
c.546G>C (p.Met182Ile)
c.900G>C (p.Met300Ile)
c.384G>C (p.Met128Ile)
n.585G>C
n.1010G>C
n.975G>C
gnomAD v4
20g.3234189C>TCA408093758SLC4A11c.417G>A (p.Met139Ile)
c.348G>A (p.Met116Ile)
c.360G>A (p.Met120Ile)
c.465G>A (p.Met155Ile)
c.546G>A (p.Met182Ile)
c.900G>A (p.Met300Ile)
c.384G>A (p.Met128Ile)
n.585G>A
n.1010G>A
n.975G>A
20g.3234190A>CCA408093763SLC4A11c.416T>G (p.Met139Arg)
c.347T>G (p.Met116Arg)
c.359T>G (p.Met120Arg)
c.464T>G (p.Met155Arg)
c.545T>G (p.Met182Arg)
c.899T>G (p.Met300Arg)
c.383T>G (p.Met128Arg)
n.584T>G
n.1009T>G
n.974T>G
20g.3234190A>GCA408093767SLC4A11c.416T>C (p.Met139Thr)
c.347T>C (p.Met116Thr)
c.359T>C (p.Met120Thr)
c.464T>C (p.Met155Thr)
c.545T>C (p.Met182Thr)
c.899T>C (p.Met300Thr)
c.383T>C (p.Met128Thr)
n.584T>C
n.1009T>C
n.974T>C
COSMIC COSMIC
20g.3234190A>TCA408093765SLC4A11c.416T>A (p.Met139Lys)
c.347T>A (p.Met116Lys)
c.359T>A (p.Met120Lys)
c.464T>A (p.Met155Lys)
c.545T>A (p.Met182Lys)
c.899T>A (p.Met300Lys)
c.383T>A (p.Met128Lys)
n.584T>A
n.1009T>A
n.974T>A
20g.3234191T>ACA408093770SLC4A11c.415A>T (p.Met139Leu)
c.346A>T (p.Met116Leu)
c.358A>T (p.Met120Leu)
c.463A>T (p.Met155Leu)
c.544A>T (p.Met182Leu)
c.898A>T (p.Met300Leu)
c.382A>T (p.Met128Leu)
n.583A>T
n.1008A>T
n.973A>T
20g.3234191T>CCA408093772SLC4A11c.415A>G (p.Met139Val)
c.346A>G (p.Met116Val)
c.358A>G (p.Met120Val)
c.463A>G (p.Met155Val)
c.544A>G (p.Met182Val)
c.898A>G (p.Met300Val)
c.382A>G (p.Met128Val)
n.583A>G
n.1008A>G
n.973A>G
gnomAD v4
20g.3234191T>GCA408093774SLC4A11c.415A>C (p.Met139Leu)
c.346A>C (p.Met116Leu)
c.358A>C (p.Met120Leu)
c.463A>C (p.Met155Leu)
c.544A>C (p.Met182Leu)
c.898A>C (p.Met300Leu)
c.382A>C (p.Met128Leu)
n.583A>C
n.1008A>C
n.973A>C
20g.3234192G>ACA509559140SLC4A11c.414C>T (p.Thr138=)
c.345C>T (p.Thr115=)
c.357C>T (p.Thr119=)
c.462C>T (p.Thr154=)
c.543C>T (p.Thr181=)
c.897C>T (p.Thr299=)
c.381C>T (p.Thr127=)
n.582C>T
n.1007C>T
n.972C>T
20g.3234192G>CCA509559141SLC4A11c.414C>G (p.Thr138=)
c.345C>G (p.Thr115=)
c.357C>G (p.Thr119=)
c.462C>G (p.Thr154=)
c.543C>G (p.Thr181=)
c.897C>G (p.Thr299=)
c.381C>G (p.Thr127=)
n.582C>G
n.1007C>G
n.972C>G
20g.3234192G=CA2346477992SLC4A11c.414C= (p.Thr138=)
c.345C= (p.Thr115=)
c.357C= (p.Thr119=)
c.462C= (p.Thr154=)
c.543C= (p.Thr181=)
c.897C= (p.Thr299=)
c.381C= (p.Thr127=)
n.582C=
n.1007C=
n.972C=
20g.3234192G>TCA9742300SLC4A11c.414C>A (p.Thr138=)
c.345C>A (p.Thr115=)
c.357C>A (p.Thr119=)
c.462C>A (p.Thr154=)
c.543C>A (p.Thr181=)
c.897C>A (p.Thr299=)
c.381C>A (p.Thr127=)
n.582C>A
n.1007C>A
n.972C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.3234193G>ACA408093780SLC4A11c.413C>T (p.Thr138Ile)
c.344C>T (p.Thr115Ile)
c.356C>T (p.Thr119Ile)
c.461C>T (p.Thr154Ile)
c.542C>T (p.Thr181Ile)
c.896C>T (p.Thr299Ile)
c.380C>T (p.Thr127Ile)
n.581C>T
n.1006C>T
n.971C>T
20g.3234193G>CCA9742301SLC4A11c.413C>G (p.Thr138Ser)
c.344C>G (p.Thr115Ser)
c.356C>G (p.Thr119Ser)
c.461C>G (p.Thr154Ser)
c.542C>G (p.Thr181Ser)
c.896C>G (p.Thr299Ser)
c.380C>G (p.Thr127Ser)
n.581C>G
n.1006C>G
n.971C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234193G=CA2346477993SLC4A11c.413C= (p.Thr138=)
c.344C= (p.Thr115=)
c.356C= (p.Thr119=)
c.461C= (p.Thr154=)
c.542C= (p.Thr181=)
c.896C= (p.Thr299=)
c.380C= (p.Thr127=)
n.581C=
n.1006C=
n.971C=
20g.3234193G>TCA408093784SLC4A11c.413C>A (p.Thr138Asn)
c.344C>A (p.Thr115Asn)
c.356C>A (p.Thr119Asn)
c.461C>A (p.Thr154Asn)
c.542C>A (p.Thr181Asn)
c.896C>A (p.Thr299Asn)
c.380C>A (p.Thr127Asn)
n.581C>A
n.1006C>A
n.971C>A
20g.3234194T>ACA408093788SLC4A11c.412A>T (p.Thr138Ser)
c.343A>T (p.Thr115Ser)
c.355A>T (p.Thr119Ser)
c.460A>T (p.Thr154Ser)
c.541A>T (p.Thr181Ser)
c.895A>T (p.Thr299Ser)
c.379A>T (p.Thr127Ser)
n.580A>T
n.1005A>T
n.970A>T
20g.3234194T>CCA408093790SLC4A11c.412A>G (p.Thr138Ala)
c.343A>G (p.Thr115Ala)
c.355A>G (p.Thr119Ala)
c.460A>G (p.Thr154Ala)
c.541A>G (p.Thr181Ala)
c.895A>G (p.Thr299Ala)
c.379A>G (p.Thr127Ala)
n.580A>G
n.1005A>G
n.970A>G
dbSNP gnomAD v3 gnomAD v4
20g.3234194T>GCA408093792SLC4A11c.412A>C (p.Thr138Pro)
c.343A>C (p.Thr115Pro)
c.355A>C (p.Thr119Pro)
c.460A>C (p.Thr154Pro)
c.541A>C (p.Thr181Pro)
c.895A>C (p.Thr299Pro)
c.379A>C (p.Thr127Pro)
n.580A>C
n.1005A>C
n.970A>C
gnomAD v4
20g.3234194T=CA2346477994SLC4A11c.412A= (p.Thr138=)
c.343A= (p.Thr115=)
c.355A= (p.Thr119=)
c.460A= (p.Thr154=)
c.541A= (p.Thr181=)
c.895A= (p.Thr299=)
c.379A= (p.Thr127=)
n.580A=
n.1005A=
n.970A=
20g.3234195C>ACA509559142SLC4A11c.411G>T (p.Arg137=)
c.342G>T (p.Arg114=)
c.354G>T (p.Arg118=)
c.459G>T (p.Arg153=)
c.540G>T (p.Arg180=)
c.894G>T (p.Arg298=)
c.378G>T (p.Arg126=)
n.579G>T
n.1004G>T
n.969G>T
20g.3234195C>GCA509559143SLC4A11c.411G>C (p.Arg137=)
c.342G>C (p.Arg114=)
c.354G>C (p.Arg118=)
c.459G>C (p.Arg153=)
c.540G>C (p.Arg180=)
c.894G>C (p.Arg298=)
c.378G>C (p.Arg126=)
n.579G>C
n.1004G>C
n.969G>C
gnomAD v4
20g.3234195C>TCA509559144SLC4A11c.411G>A (p.Arg137=)
c.342G>A (p.Arg114=)
c.354G>A (p.Arg118=)
c.459G>A (p.Arg153=)
c.540G>A (p.Arg180=)
c.894G>A (p.Arg298=)
c.378G>A (p.Arg126=)
n.579G>A
n.1004G>A
n.969G>A
20g.3234196C>ACA408093795SLC4A11c.410G>T (p.Arg137Leu)
c.341G>T (p.Arg114Leu)
c.353G>T (p.Arg118Leu)
c.458G>T (p.Arg153Leu)
c.539G>T (p.Arg180Leu)
c.893G>T (p.Arg298Leu)
c.377G>T (p.Arg126Leu)
n.578G>T
n.1003G>T
n.968G>T
20g.3234196C=CA2346477995SLC4A11c.410G= (p.Arg137=)
c.341G= (p.Arg114=)
c.353G= (p.Arg118=)
c.458G= (p.Arg153=)
c.539G= (p.Arg180=)
c.893G= (p.Arg298=)
c.377G= (p.Arg126=)
n.578G=
n.1003G=
n.968G=
20g.3234196C>GCA408093797SLC4A11c.410G>C (p.Arg137Pro)
c.341G>C (p.Arg114Pro)
c.353G>C (p.Arg118Pro)
c.458G>C (p.Arg153Pro)
c.539G>C (p.Arg180Pro)
c.893G>C (p.Arg298Pro)
c.377G>C (p.Arg126Pro)
n.578G>C
n.1003G>C
n.968G>C
gnomAD v4
20g.3234196C>TCA9742302SLC4A11c.410G>A (p.Arg137Gln)
c.341G>A (p.Arg114Gln)
c.353G>A (p.Arg118Gln)
c.458G>A (p.Arg153Gln)
c.539G>A (p.Arg180Gln)
c.893G>A (p.Arg298Gln)
c.377G>A (p.Arg126Gln)
n.578G>A
n.1003G>A
n.968G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.3234197G>ACA9742303SLC4A11c.409C>T (p.Arg137Trp)
c.340C>T (p.Arg114Trp)
c.352C>T (p.Arg118Trp)
c.457C>T (p.Arg153Trp)
c.538C>T (p.Arg180Trp)
c.892C>T (p.Arg298Trp)
c.376C>T (p.Arg126Trp)
n.577C>T
n.1002C>T
n.967C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.3234197G>CCA9742304SLC4A11c.409C>G (p.Arg137Gly)
c.340C>G (p.Arg114Gly)
c.352C>G (p.Arg118Gly)
c.457C>G (p.Arg153Gly)
c.538C>G (p.Arg180Gly)
c.892C>G (p.Arg298Gly)
c.376C>G (p.Arg126Gly)
n.577C>G
n.1002C>G
n.967C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234197G=CA2346477996SLC4A11c.409C= (p.Arg137=)
c.340C= (p.Arg114=)
c.352C= (p.Arg118=)
c.457C= (p.Arg153=)
c.538C= (p.Arg180=)
c.892C= (p.Arg298=)
c.376C= (p.Arg126=)
n.577C=
n.1002C=
n.967C=
20g.3234197G>TCA509559145SLC4A11c.409C>A (p.Arg137=)
c.340C>A (p.Arg114=)
c.352C>A (p.Arg118=)
c.457C>A (p.Arg153=)
c.538C>A (p.Arg180=)
c.892C>A (p.Arg298=)
c.376C>A (p.Arg126=)
n.577C>A
n.1002C>A
n.967C>A
dbSNP gnomAD v4
20g.3234198C>ACA509559146SLC4A11c.408G>T (p.Leu136=)
c.339G>T (p.Leu113=)
c.351G>T (p.Leu117=)
c.456G>T (p.Leu152=)
c.537G>T (p.Leu179=)
c.891G>T (p.Leu297=)
c.375G>T (p.Leu125=)
n.576G>T
n.1001G>T
n.966G>T
20g.3234198C=CA2346477997SLC4A11c.408G= (p.Leu136=)
c.339G= (p.Leu113=)
c.351G= (p.Leu117=)
c.456G= (p.Leu152=)
c.537G= (p.Leu179=)
c.891G= (p.Leu297=)
c.375G= (p.Leu125=)
n.576G=
n.1001G=
n.966G=
20g.3234198C>GCA509559147SLC4A11c.408G>C (p.Leu136=)
c.339G>C (p.Leu113=)
c.351G>C (p.Leu117=)
c.456G>C (p.Leu152=)
c.537G>C (p.Leu179=)
c.891G>C (p.Leu297=)
c.375G>C (p.Leu125=)
n.576G>C
n.1001G>C
n.966G>C
20g.3234198C>TCA509559148SLC4A11c.408G>A (p.Leu136=)
c.339G>A (p.Leu113=)
c.351G>A (p.Leu117=)
c.456G>A (p.Leu152=)
c.537G>A (p.Leu179=)
c.891G>A (p.Leu297=)
c.375G>A (p.Leu125=)
n.576G>A
n.1001G>A
n.966G>A
dbSNP
20g.3234199A>CCA408093806SLC4A11c.407T>G (p.Leu136Arg)
c.338T>G (p.Leu113Arg)
c.350T>G (p.Leu117Arg)
c.455T>G (p.Leu152Arg)
c.536T>G (p.Leu179Arg)
c.890T>G (p.Leu297Arg)
c.374T>G (p.Leu125Arg)
n.575T>G
n.1000T>G
n.965T>G
20g.3234199A>GCA408093807SLC4A11c.407T>C (p.Leu136Pro)
c.338T>C (p.Leu113Pro)
c.350T>C (p.Leu117Pro)
c.455T>C (p.Leu152Pro)
c.536T>C (p.Leu179Pro)
c.890T>C (p.Leu297Pro)
c.374T>C (p.Leu125Pro)
n.575T>C
n.1000T>C
n.965T>C
gnomAD v4
20g.3234199A>TCA408093810SLC4A11c.407T>A (p.Leu136Gln)
c.338T>A (p.Leu113Gln)
c.350T>A (p.Leu117Gln)
c.455T>A (p.Leu152Gln)
c.536T>A (p.Leu179Gln)
c.890T>A (p.Leu297Gln)
c.374T>A (p.Leu125Gln)
n.575T>A
n.1000T>A
n.965T>A
20g.3234200_3234201insGGAGCA2651691937SLC4A11c.407_408insCCCT (p.Arg137ProfsTer13)
c.338_339insCCCT (p.Arg114ProfsTer13)
c.350_351insCCCT (p.Arg118ProfsTer13)
c.455_456insCCCT (p.Arg153ProfsTer13)
c.536_537insCCCT (p.Arg180ProfsTer13)
c.890_891insCCCT (p.Arg298ProfsTer13)
c.374_375insCCCT (p.Arg126ProfsTer13)
n.575_576insCCCT
n.1000_1001insCCCT
n.965_966insCCCT
gnomAD v4
20g.3234200G>ACA9742305SLC4A11c.406C>T (p.Leu136=)
c.337C>T (p.Leu113=)
c.349C>T (p.Leu117=)
c.454C>T (p.Leu152=)
c.535C>T (p.Leu179=)
c.889C>T (p.Leu297=)
c.373C>T (p.Leu125=)
n.574C>T
n.999C>T
n.964C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234200G>CCA408093814SLC4A11c.406C>G (p.Leu136Val)
c.337C>G (p.Leu113Val)
c.349C>G (p.Leu117Val)
c.454C>G (p.Leu152Val)
c.535C>G (p.Leu179Val)
c.889C>G (p.Leu297Val)
c.373C>G (p.Leu125Val)
n.574C>G
n.999C>G
n.964C>G
20g.3234200G=CA2346477998SLC4A11c.406C= (p.Leu136=)
c.337C= (p.Leu113=)
c.349C= (p.Leu117=)
c.454C= (p.Leu152=)
c.535C= (p.Leu179=)
c.889C= (p.Leu297=)
c.373C= (p.Leu125=)
n.574C=
n.999C=
n.964C=
20g.3234200G>TCA408093816SLC4A11c.406C>A (p.Leu136Met)
c.337C>A (p.Leu113Met)
c.349C>A (p.Leu117Met)
c.454C>A (p.Leu152Met)
c.535C>A (p.Leu179Met)
c.889C>A (p.Leu297Met)
c.373C>A (p.Leu125Met)
n.574C>A
n.999C>A
n.964C>A
20g.3234201C>ACA310994519SLC4A11c.405G>T (p.Val135=)
c.336G>T (p.Val112=)
c.348G>T (p.Val116=)
c.453G>T (p.Val151=)
c.534G>T (p.Val178=)
c.888G>T (p.Val296=)
c.372G>T (p.Val124=)
n.573G>T
n.998G>T
n.963G>T
dbSNP gnomAD v4
20g.3234201C=CA2346477999SLC4A11c.405G= (p.Val135=)
c.336G= (p.Val112=)
c.348G= (p.Val116=)
c.453G= (p.Val151=)
c.534G= (p.Val178=)
c.888G= (p.Val296=)
c.372G= (p.Val124=)
n.573G=
n.998G=
n.963G=
20g.3234201C>GCA509559149SLC4A11c.405G>C (p.Val135=)
c.336G>C (p.Val112=)
c.348G>C (p.Val116=)
c.453G>C (p.Val151=)
c.534G>C (p.Val178=)
c.888G>C (p.Val296=)
c.372G>C (p.Val124=)
n.573G>C
n.998G>C
n.963G>C
gnomAD v4
20g.3234201C>TCA509559150SLC4A11c.405G>A (p.Val135=)
c.336G>A (p.Val112=)
c.348G>A (p.Val116=)
c.453G>A (p.Val151=)
c.534G>A (p.Val178=)
c.888G>A (p.Val296=)
c.372G>A (p.Val124=)
n.573G>A
n.998G>A
n.963G>A
dbSNP gnomAD v2
20g.3234202A>CCA408093820SLC4A11c.404T>G (p.Val135Gly)
c.335T>G (p.Val112Gly)
c.347T>G (p.Val116Gly)
c.452T>G (p.Val151Gly)
c.533T>G (p.Val178Gly)
c.887T>G (p.Val296Gly)
c.371T>G (p.Val124Gly)
n.572T>G
n.997T>G
n.962T>G
20g.3234202A>GCA408093822SLC4A11c.404T>C (p.Val135Ala)
c.335T>C (p.Val112Ala)
c.347T>C (p.Val116Ala)
c.452T>C (p.Val151Ala)
c.533T>C (p.Val178Ala)
c.887T>C (p.Val296Ala)
c.371T>C (p.Val124Ala)
n.572T>C
n.997T>C
n.962T>C
20g.3234202A>TCA408093824SLC4A11c.404T>A (p.Val135Glu)
c.335T>A (p.Val112Glu)
c.347T>A (p.Val116Glu)
c.452T>A (p.Val151Glu)
c.533T>A (p.Val178Glu)
c.887T>A (p.Val296Glu)
c.371T>A (p.Val124Glu)
n.572T>A
n.997T>A
n.962T>A
20g.3234202_3234207delCA2651691938SLC4A11c.399_404del (p.Asp133_Val135delinsGlu)
c.330_335del (p.Asp110_Val112delinsGlu)
c.342_347del (p.Asp114_Val116delinsGlu)
c.447_452del (p.Asp149_Val151delinsGlu)
c.528_533del (p.Asp176_Val178delinsGlu)
c.882_887del (p.Asp294_Val296delinsGlu)
c.366_371del (p.Asp122_Val124delinsGlu)
n.567_572del
n.992_997del
n.957_962del
gnomAD v4
20g.3234203C>ACA408093826SLC4A11c.403G>T (p.Val135Leu)
c.334G>T (p.Val112Leu)
c.346G>T (p.Val116Leu)
c.451G>T (p.Val151Leu)
c.532G>T (p.Val178Leu)
c.886G>T (p.Val296Leu)
c.370G>T (p.Val124Leu)
n.571G>T
n.996G>T
n.961G>T
20g.3234203C=CA2346478000SLC4A11c.403G= (p.Val135=)
c.334G= (p.Val112=)
c.346G= (p.Val116=)
c.451G= (p.Val151=)
c.532G= (p.Val178=)
c.886G= (p.Val296=)
c.370G= (p.Val124=)
n.571G=
n.996G=
n.961G=
20g.3234203C>GCA408093828SLC4A11c.403G>C (p.Val135Leu)
c.334G>C (p.Val112Leu)
c.346G>C (p.Val116Leu)
c.451G>C (p.Val151Leu)
c.532G>C (p.Val178Leu)
c.886G>C (p.Val296Leu)
c.370G>C (p.Val124Leu)
n.571G>C
n.996G>C
n.961G>C
20g.3234203C>TCA310994522SLC4A11c.403G>A (p.Val135Met)
c.334G>A (p.Val112Met)
c.346G>A (p.Val116Met)
c.451G>A (p.Val151Met)
c.532G>A (p.Val178Met)
c.886G>A (p.Val296Met)
c.370G>A (p.Val124Met)
n.571G>A
n.996G>A
n.961G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.3234204G>ACA9742306SLC4A11c.402C>T (p.Asn134=)
c.333C>T (p.Asn111=)
c.345C>T (p.Asn115=)
c.450C>T (p.Asn150=)
c.531C>T (p.Asn177=)
c.885C>T (p.Asn295=)
c.369C>T (p.Asn123=)
n.570C>T
n.995C>T
n.960C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234204G>CCA9742307SLC4A11c.402C>G (p.Asn134Lys)
c.333C>G (p.Asn111Lys)
c.345C>G (p.Asn115Lys)
c.450C>G (p.Asn150Lys)
c.531C>G (p.Asn177Lys)
c.885C>G (p.Asn295Lys)
c.369C>G (p.Asn123Lys)
n.570C>G
n.995C>G
n.960C>G
dbSNP ExAC gnomAD v2 gnomAD v4
20g.3234204G=CA2346478001SLC4A11c.402C= (p.Asn134=)
c.333C= (p.Asn111=)
c.345C= (p.Asn115=)
c.450C= (p.Asn150=)
c.531C= (p.Asn177=)
c.885C= (p.Asn295=)
c.369C= (p.Asn123=)
n.570C=
n.995C=
n.960C=
20g.3234204G>TCA408093835SLC4A11c.402C>A (p.Asn134Lys)
c.333C>A (p.Asn111Lys)
c.345C>A (p.Asn115Lys)
c.450C>A (p.Asn150Lys)
c.531C>A (p.Asn177Lys)
c.885C>A (p.Asn295Lys)
c.369C>A (p.Asn123Lys)
n.570C>A
n.995C>A
n.960C>A
20g.3234205T>ACA408093840SLC4A11c.401A>T (p.Asn134Ile)
c.332A>T (p.Asn111Ile)
c.344A>T (p.Asn115Ile)
c.449A>T (p.Asn150Ile)
c.530A>T (p.Asn177Ile)
c.884A>T (p.Asn295Ile)
c.368A>T (p.Asn123Ile)
n.569A>T
n.994A>T
n.959A>T
20g.3234205T>CCA9742308SLC4A11c.401A>G (p.Asn134Ser)
c.332A>G (p.Asn111Ser)
c.344A>G (p.Asn115Ser)
c.449A>G (p.Asn150Ser)
c.530A>G (p.Asn177Ser)
c.884A>G (p.Asn295Ser)
c.368A>G (p.Asn123Ser)
n.569A>G
n.994A>G
n.959A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234205T>GCA408093843SLC4A11c.401A>C (p.Asn134Thr)
c.332A>C (p.Asn111Thr)
c.344A>C (p.Asn115Thr)
c.449A>C (p.Asn150Thr)
c.530A>C (p.Asn177Thr)
c.884A>C (p.Asn295Thr)
c.368A>C (p.Asn123Thr)
n.569A>C
n.994A>C
n.959A>C
20g.3234205T=CA2346478002SLC4A11c.401A= (p.Asn134=)
c.332A= (p.Asn111=)
c.344A= (p.Asn115=)
c.449A= (p.Asn150=)
c.530A= (p.Asn177=)
c.884A= (p.Asn295=)
c.368A= (p.Asn123=)
n.569A=
n.994A=
n.959A=
20g.3234206T>ACA408093846SLC4A11c.400A>T (p.Asn134Tyr)
c.331A>T (p.Asn111Tyr)
c.343A>T (p.Asn115Tyr)
c.448A>T (p.Asn150Tyr)
c.529A>T (p.Asn177Tyr)
c.883A>T (p.Asn295Tyr)
c.367A>T (p.Asn123Tyr)
n.568A>T
n.993A>T
n.958A>T
20g.3234206T>CCA9742309SLC4A11c.400A>G (p.Asn134Asp)
c.331A>G (p.Asn111Asp)
c.343A>G (p.Asn115Asp)
c.448A>G (p.Asn150Asp)
c.529A>G (p.Asn177Asp)
c.883A>G (p.Asn295Asp)
c.367A>G (p.Asn123Asp)
n.568A>G
n.993A>G
n.958A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234206T>GCA408093850SLC4A11c.400A>C (p.Asn134His)
c.331A>C (p.Asn111His)
c.343A>C (p.Asn115His)
c.448A>C (p.Asn150His)
c.529A>C (p.Asn177His)
c.883A>C (p.Asn295His)
c.367A>C (p.Asn123His)
n.568A>C
n.993A>C
n.958A>C
20g.3234206T=CA2346478003SLC4A11c.400A= (p.Asn134=)
c.331A= (p.Asn111=)
c.343A= (p.Asn115=)
c.448A= (p.Asn150=)
c.529A= (p.Asn177=)
c.883A= (p.Asn295=)
c.367A= (p.Asn123=)
n.568A=
n.993A=
n.958A=
20g.3234207A>CCA408093856SLC4A11c.399T>G (p.Asp133Glu)
c.330T>G (p.Asp110Glu)
c.342T>G (p.Asp114Glu)
c.447T>G (p.Asp149Glu)
c.528T>G (p.Asp176Glu)
c.882T>G (p.Asp294Glu)
c.366T>G (p.Asp122Glu)
n.567T>G
n.992T>G
n.957T>G
20g.3234207A>GCA509559151SLC4A11c.399T>C (p.Asp133=)
c.330T>C (p.Asp110=)
c.342T>C (p.Asp114=)
c.447T>C (p.Asp149=)
c.528T>C (p.Asp176=)
c.882T>C (p.Asp294=)
c.366T>C (p.Asp122=)
n.567T>C
n.992T>C
n.957T>C
20g.3234207A>TCA408093854SLC4A11c.399T>A (p.Asp133Glu)
c.330T>A (p.Asp110Glu)
c.342T>A (p.Asp114Glu)
c.447T>A (p.Asp149Glu)
c.528T>A (p.Asp176Glu)
c.882T>A (p.Asp294Glu)
c.366T>A (p.Asp122Glu)
n.567T>A
n.992T>A
n.957T>A
20g.3234208T>ACA408093858SLC4A11c.398A>T (p.Asp133Val)
c.329A>T (p.Asp110Val)
c.341A>T (p.Asp114Val)
c.446A>T (p.Asp149Val)
c.527A>T (p.Asp176Val)
c.881A>T (p.Asp294Val)
c.365A>T (p.Asp122Val)
n.566A>T
n.991A>T
n.956A>T
COSMIC COSMIC
20g.3234208T>CCA408093861SLC4A11c.398A>G (p.Asp133Gly)
c.329A>G (p.Asp110Gly)
c.341A>G (p.Asp114Gly)
c.446A>G (p.Asp149Gly)
c.527A>G (p.Asp176Gly)
c.881A>G (p.Asp294Gly)
c.365A>G (p.Asp122Gly)
n.566A>G
n.991A>G
n.956A>G
20g.3234208T>GCA408093864SLC4A11c.398A>C (p.Asp133Ala)
c.329A>C (p.Asp110Ala)
c.341A>C (p.Asp114Ala)
c.446A>C (p.Asp149Ala)
c.527A>C (p.Asp176Ala)
c.881A>C (p.Asp294Ala)
c.365A>C (p.Asp122Ala)
n.566A>C
n.991A>C
n.956A>C
20g.3234208_3234209insGCGGACA2651691939SLC4A11c.397_398insTCCGC (p.Asp133ValfsTer?)
c.328_329insTCCGC (p.Asp110ValfsTer?)
c.340_341insTCCGC (p.Asp114ValfsTer?)
c.445_446insTCCGC (p.Asp149ValfsTer?)
c.526_527insTCCGC (p.Asp176ValfsTer?)
c.880_881insTCCGC (p.Asp294ValfsTer?)
c.364_365insTCCGC (p.Asp122ValfsTer?)
n.565_566insTCCGC
n.990_991insTCCGC
n.955_956insTCCGC
gnomAD v4
20g.3234209C>ACA408093867SLC4A11c.397G>T (p.Asp133Tyr)
c.328G>T (p.Asp110Tyr)
c.340G>T (p.Asp114Tyr)
c.445G>T (p.Asp149Tyr)
c.526G>T (p.Asp176Tyr)
c.880G>T (p.Asp294Tyr)
c.364G>T (p.Asp122Tyr)
n.565G>T
n.990G>T
n.955G>T
COSMIC COSMIC
20g.3234209C>GCA408093869SLC4A11c.397G>C (p.Asp133His)
c.328G>C (p.Asp110His)
c.340G>C (p.Asp114His)
c.445G>C (p.Asp149His)
c.526G>C (p.Asp176His)
c.880G>C (p.Asp294His)
c.364G>C (p.Asp122His)
n.565G>C
n.990G>C
n.955G>C
20g.3234209C>TCA408093871SLC4A11c.397G>A (p.Asp133Asn)
c.328G>A (p.Asp110Asn)
c.340G>A (p.Asp114Asn)
c.445G>A (p.Asp149Asn)
c.526G>A (p.Asp176Asn)
c.880G>A (p.Asp294Asn)
c.364G>A (p.Asp122Asn)
n.565G>A
n.990G>A
n.955G>A
20g.3234210C>ACA509559152SLC4A11c.396G>T (p.Leu132=)
c.327G>T (p.Leu109=)
c.339G>T (p.Leu113=)
c.444G>T (p.Leu148=)
c.525G>T (p.Leu175=)
c.879G>T (p.Leu293=)
c.363G>T (p.Leu121=)
n.564G>T
n.989G>T
n.954G>T
20g.3234210C>GCA509559153SLC4A11c.396G>C (p.Leu132=)
c.327G>C (p.Leu109=)
c.339G>C (p.Leu113=)
c.444G>C (p.Leu148=)
c.525G>C (p.Leu175=)
c.879G>C (p.Leu293=)
c.363G>C (p.Leu121=)
n.564G>C
n.989G>C
n.954G>C
20g.3234210C>TCA509559154SLC4A11c.396G>A (p.Leu132=)
c.327G>A (p.Leu109=)
c.339G>A (p.Leu113=)
c.444G>A (p.Leu148=)
c.525G>A (p.Leu175=)
c.879G>A (p.Leu293=)
c.363G>A (p.Leu121=)
n.564G>A
n.989G>A
n.954G>A
gnomAD v4
20g.3234211A>CCA408093875SLC4A11c.395T>G (p.Leu132Arg)
c.326T>G (p.Leu109Arg)
c.338T>G (p.Leu113Arg)
c.443T>G (p.Leu148Arg)
c.524T>G (p.Leu175Arg)
c.878T>G (p.Leu293Arg)
c.362T>G (p.Leu121Arg)
n.563T>G
n.988T>G
n.953T>G
20g.3234211A>GCA408093878SLC4A11c.395T>C (p.Leu132Pro)
c.326T>C (p.Leu109Pro)
c.338T>C (p.Leu113Pro)
c.443T>C (p.Leu148Pro)
c.524T>C (p.Leu175Pro)
c.878T>C (p.Leu293Pro)
c.362T>C (p.Leu121Pro)
n.563T>C
n.988T>C
n.953T>C
20g.3234211A>TCA408093877SLC4A11c.395T>A (p.Leu132Gln)
c.326T>A (p.Leu109Gln)
c.338T>A (p.Leu113Gln)
c.443T>A (p.Leu148Gln)
c.524T>A (p.Leu175Gln)
c.878T>A (p.Leu293Gln)
c.362T>A (p.Leu121Gln)
n.563T>A
n.988T>A
n.953T>A
20g.3234214_3234217delCA2739277037SLC4A11c.392_395del (p.Ser131TrpfsTer?)
c.323_326del (p.Ser108TrpfsTer?)
c.335_338del (p.Ser112TrpfsTer?)
c.440_443del (p.Ser147TrpfsTer?)
c.521_524del (p.Ser174TrpfsTer?)
c.875_878del (p.Ser292TrpfsTer?)
c.359_362del (p.Ser120TrpfsTer?)
n.560_563del
n.985_988del
n.950_953del
ClinVar
20g.3234212G>ACA509559155SLC4A11c.394C>T (p.Leu132=)
c.325C>T (p.Leu109=)
c.337C>T (p.Leu113=)
c.442C>T (p.Leu148=)
c.523C>T (p.Leu175=)
c.877C>T (p.Leu293=)
c.361C>T (p.Leu121=)
n.562C>T
n.987C>T
n.952C>T
gnomAD v4
20g.3234212G>CCA408093880SLC4A11c.394C>G (p.Leu132Val)
c.325C>G (p.Leu109Val)
c.337C>G (p.Leu113Val)
c.442C>G (p.Leu148Val)
c.523C>G (p.Leu175Val)
c.877C>G (p.Leu293Val)
c.361C>G (p.Leu121Val)
n.562C>G
n.987C>G
n.952C>G
20g.3234212G>TCA408093881SLC4A11c.394C>A (p.Leu132Met)
c.325C>A (p.Leu109Met)
c.337C>A (p.Leu113Met)
c.442C>A (p.Leu148Met)
c.523C>A (p.Leu175Met)
c.877C>A (p.Leu293Met)
c.361C>A (p.Leu121Met)
n.562C>A
n.987C>A
n.952C>A
20g.3234213G>ACA9742310SLC4A11c.393C>T (p.Ser131=)
c.324C>T (p.Ser108=)
c.336C>T (p.Ser112=)
c.441C>T (p.Ser147=)
c.522C>T (p.Ser174=)
c.876C>T (p.Ser292=)
c.360C>T (p.Ser120=)
n.561C>T
n.986C>T
n.951C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234213G>CCA509559156SLC4A11c.393C>G (p.Ser131=)
c.324C>G (p.Ser108=)
c.336C>G (p.Ser112=)
c.441C>G (p.Ser147=)
c.522C>G (p.Ser174=)
c.876C>G (p.Ser292=)
c.360C>G (p.Ser120=)
n.561C>G
n.986C>G
n.951C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3234213G=CA2346478004SLC4A11c.393C= (p.Ser131=)
c.324C= (p.Ser108=)
c.336C= (p.Ser112=)
c.441C= (p.Ser147=)
c.522C= (p.Ser174=)
c.876C= (p.Ser292=)
c.360C= (p.Ser120=)
n.561C=
n.986C=
n.951C=
20g.3234213G>TCA509559157SLC4A11c.393C>A (p.Ser131=)
c.324C>A (p.Ser108=)
c.336C>A (p.Ser112=)
c.441C>A (p.Ser147=)
c.522C>A (p.Ser174=)
c.876C>A (p.Ser292=)
c.360C>A (p.Ser120=)
n.561C>A
n.986C>A
n.951C>A
20g.3234214G>ACA408093884SLC4A11c.392C>T (p.Ser131Phe)
c.323C>T (p.Ser108Phe)
c.335C>T (p.Ser112Phe)
c.440C>T (p.Ser147Phe)
c.521C>T (p.Ser174Phe)
c.875C>T (p.Ser292Phe)
c.359C>T (p.Ser120Phe)
n.560C>T
n.985C>T
n.950C>T
20g.3234214G>CCA408093886SLC4A11c.392C>G (p.Ser131Cys)
c.323C>G (p.Ser108Cys)
c.335C>G (p.Ser112Cys)
c.440C>G (p.Ser147Cys)
c.521C>G (p.Ser174Cys)
c.875C>G (p.Ser292Cys)
c.359C>G (p.Ser120Cys)
n.560C>G
n.985C>G
n.950C>G
20g.3234214G>TCA408093888SLC4A11c.392C>A (p.Ser131Tyr)
c.323C>A (p.Ser108Tyr)
c.335C>A (p.Ser112Tyr)
c.440C>A (p.Ser147Tyr)
c.521C>A (p.Ser174Tyr)
c.875C>A (p.Ser292Tyr)
c.359C>A (p.Ser120Tyr)
n.560C>A
n.985C>A
n.950C>A
20g.3234215A>CCA408093890SLC4A11c.391T>G (p.Ser131Ala)
c.322T>G (p.Ser108Ala)
c.334T>G (p.Ser112Ala)
c.439T>G (p.Ser147Ala)
c.520T>G (p.Ser174Ala)
c.874T>G (p.Ser292Ala)
c.358T>G (p.Ser120Ala)
n.559T>G
n.984T>G
n.949T>G
20g.3234215A>GCA408093892SLC4A11c.391T>C (p.Ser131Pro)
c.322T>C (p.Ser108Pro)
c.334T>C (p.Ser112Pro)
c.439T>C (p.Ser147Pro)
c.520T>C (p.Ser174Pro)
c.874T>C (p.Ser292Pro)
c.358T>C (p.Ser120Pro)
n.559T>C
n.984T>C
n.949T>C
20g.3234215A>TCA408093893SLC4A11c.391T>A (p.Ser131Thr)
c.322T>A (p.Ser108Thr)
c.334T>A (p.Ser112Thr)
c.439T>A (p.Ser147Thr)
c.520T>A (p.Ser174Thr)
c.874T>A (p.Ser292Thr)
c.358T>A (p.Ser120Thr)
n.559T>A
n.984T>A
n.949T>A
20g.3234216G>ACA9742311SLC4A11c.390C>T (p.Thr130=)
c.321C>T (p.Thr107=)
c.333C>T (p.Thr111=)
c.438C>T (p.Thr146=)
c.519C>T (p.Thr173=)
c.873C>T (p.Thr291=)
c.357C>T (p.Thr119=)
n.558C>T
n.983C>T
n.948C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234216G>CCA509559158SLC4A11c.390C>G (p.Thr130=)
c.321C>G (p.Thr107=)
c.333C>G (p.Thr111=)
c.438C>G (p.Thr146=)
c.519C>G (p.Thr173=)
c.873C>G (p.Thr291=)
c.357C>G (p.Thr119=)
n.558C>G
n.983C>G
n.948C>G
20g.3234216G=CA2346478005SLC4A11c.390C= (p.Thr130=)
c.321C= (p.Thr107=)
c.333C= (p.Thr111=)
c.438C= (p.Thr146=)
c.519C= (p.Thr173=)
c.873C= (p.Thr291=)
c.357C= (p.Thr119=)
n.558C=
n.983C=
n.948C=
20g.3234216G>TCA509559159SLC4A11c.390C>A (p.Thr130=)
c.321C>A (p.Thr107=)
c.333C>A (p.Thr111=)
c.438C>A (p.Thr146=)
c.519C>A (p.Thr173=)
c.873C>A (p.Thr291=)
c.357C>A (p.Thr119=)
n.558C>A
n.983C>A
n.948C>A
20g.3234217G>ACA408093899SLC4A11c.389C>T (p.Thr130Ile)
c.320C>T (p.Thr107Ile)
c.332C>T (p.Thr111Ile)
c.437C>T (p.Thr146Ile)
c.518C>T (p.Thr173Ile)
c.872C>T (p.Thr291Ile)
c.356C>T (p.Thr119Ile)
n.557C>T
n.982C>T
n.947C>T
20g.3234217G>CCA408093904SLC4A11c.389C>G (p.Thr130Ser)
c.320C>G (p.Thr107Ser)
c.332C>G (p.Thr111Ser)
c.437C>G (p.Thr146Ser)
c.518C>G (p.Thr173Ser)
c.872C>G (p.Thr291Ser)
c.356C>G (p.Thr119Ser)
n.557C>G
n.982C>G
n.947C>G
20g.3234217G>TCA408093902SLC4A11c.389C>A (p.Thr130Asn)
c.320C>A (p.Thr107Asn)
c.332C>A (p.Thr111Asn)
c.437C>A (p.Thr146Asn)
c.518C>A (p.Thr173Asn)
c.872C>A (p.Thr291Asn)
c.356C>A (p.Thr119Asn)
n.557C>A
n.982C>A
n.947C>A
20g.3234218T>ACA408093907SLC4A11c.388A>T (p.Thr130Ser)
c.319A>T (p.Thr107Ser)
c.331A>T (p.Thr111Ser)
c.436A>T (p.Thr146Ser)
c.517A>T (p.Thr173Ser)
c.871A>T (p.Thr291Ser)
c.355A>T (p.Thr119Ser)
n.556A>T
n.981A>T
n.946A>T
20g.3234218T>CCA9742312SLC4A11c.388A>G (p.Thr130Ala)
c.319A>G (p.Thr107Ala)
c.331A>G (p.Thr111Ala)
c.436A>G (p.Thr146Ala)
c.517A>G (p.Thr173Ala)
c.871A>G (p.Thr291Ala)
c.355A>G (p.Thr119Ala)
n.556A>G
n.981A>G
n.946A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234218T>GCA408093909SLC4A11c.388A>C (p.Thr130Pro)
c.319A>C (p.Thr107Pro)
c.331A>C (p.Thr111Pro)
c.436A>C (p.Thr146Pro)
c.517A>C (p.Thr173Pro)
c.871A>C (p.Thr291Pro)
c.355A>C (p.Thr119Pro)
n.556A>C
n.981A>C
n.946A>C
20g.3234218T=CA2346478006SLC4A11c.388A= (p.Thr130=)
c.319A= (p.Thr107=)
c.331A= (p.Thr111=)
c.436A= (p.Thr146=)
c.517A= (p.Thr173=)
c.871A= (p.Thr291=)
c.355A= (p.Thr119=)
n.556A=
n.981A=
n.946A=
20g.3234219G>ACA509559160SLC4A11c.387C>T (p.Ala129=)
c.318C>T (p.Ala106=)
c.330C>T (p.Ala110=)
c.435C>T (p.Ala145=)
c.516C>T (p.Ala172=)
c.870C>T (p.Ala290=)
c.354C>T (p.Ala118=)
n.555C>T
n.980C>T
n.945C>T
dbSNP gnomAD v4
20g.3234219G>CCA509559162SLC4A11c.387C>G (p.Ala129=)
c.318C>G (p.Ala106=)
c.330C>G (p.Ala110=)
c.435C>G (p.Ala145=)
c.516C>G (p.Ala172=)
c.870C>G (p.Ala290=)
c.354C>G (p.Ala118=)
n.555C>G
n.980C>G
n.945C>G
20g.3234219G=CA2346478007SLC4A11c.387C= (p.Ala129=)
c.318C= (p.Ala106=)
c.330C= (p.Ala110=)
c.435C= (p.Ala145=)
c.516C= (p.Ala172=)
c.870C= (p.Ala290=)
c.354C= (p.Ala118=)
n.555C=
n.980C=
n.945C=
20g.3234219G>TCA509559163SLC4A11c.387C>A (p.Ala129=)
c.318C>A (p.Ala106=)
c.330C>A (p.Ala110=)
c.435C>A (p.Ala145=)
c.516C>A (p.Ala172=)
c.870C>A (p.Ala290=)
c.354C>A (p.Ala118=)
n.555C>A
n.980C>A
n.945C>A
20g.3234220G>ACA408093914SLC4A11c.386C>T (p.Ala129Val)
c.317C>T (p.Ala106Val)
c.329C>T (p.Ala110Val)
c.434C>T (p.Ala145Val)
c.515C>T (p.Ala172Val)
c.869C>T (p.Ala290Val)
c.353C>T (p.Ala118Val)
n.554C>T
n.979C>T
n.944C>T
gnomAD v4
20g.3234220G>CCA408093916SLC4A11c.386C>G (p.Ala129Gly)
c.317C>G (p.Ala106Gly)
c.329C>G (p.Ala110Gly)
c.434C>G (p.Ala145Gly)
c.515C>G (p.Ala172Gly)
c.869C>G (p.Ala290Gly)
c.353C>G (p.Ala118Gly)
n.554C>G
n.979C>G
n.944C>G
20g.3234220G>TCA408093919SLC4A11c.386C>A (p.Ala129Asp)
c.317C>A (p.Ala106Asp)
c.329C>A (p.Ala110Asp)
c.434C>A (p.Ala145Asp)
c.515C>A (p.Ala172Asp)
c.869C>A (p.Ala290Asp)
c.353C>A (p.Ala118Asp)
n.554C>A
n.979C>A
n.944C>A
20g.3234221C>ACA408093920SLC4A11c.385G>T (p.Ala129Ser)
c.316G>T (p.Ala106Ser)
c.328G>T (p.Ala110Ser)
c.433G>T (p.Ala145Ser)
c.514G>T (p.Ala172Ser)
c.868G>T (p.Ala290Ser)
c.352G>T (p.Ala118Ser)
n.553G>T
n.978G>T
n.943G>T
gnomAD v4
20g.3234221C>GCA408093923SLC4A11c.385G>C (p.Ala129Pro)
c.316G>C (p.Ala106Pro)
c.328G>C (p.Ala110Pro)
c.433G>C (p.Ala145Pro)
c.514G>C (p.Ala172Pro)
c.868G>C (p.Ala290Pro)
c.352G>C (p.Ala118Pro)
n.553G>C
n.978G>C
n.943G>C
20g.3234221C>TCA408093925SLC4A11c.385G>A (p.Ala129Thr)
c.316G>A (p.Ala106Thr)
c.328G>A (p.Ala110Thr)
c.433G>A (p.Ala145Thr)
c.514G>A (p.Ala172Thr)
c.868G>A (p.Ala290Thr)
c.352G>A (p.Ala118Thr)
n.553G>A
n.978G>A
n.943G>A
20g.3234222C>ACA509559164SLC4A11c.384G>T (p.Thr128=)
c.315G>T (p.Thr105=)
c.327G>T (p.Thr109=)
c.432G>T (p.Thr144=)
c.513G>T (p.Thr171=)
c.867G>T (p.Thr289=)
c.351G>T (p.Thr117=)
n.552G>T
n.977G>T
n.942G>T
20g.3234222C=CA2346478008SLC4A11c.384G= (p.Thr128=)
c.315G= (p.Thr105=)
c.327G= (p.Thr109=)
c.432G= (p.Thr144=)
c.513G= (p.Thr171=)
c.867G= (p.Thr289=)
c.351G= (p.Thr117=)
n.552G=
n.977G=
n.942G=
20g.3234222C>GCA509559165SLC4A11c.384G>C (p.Thr128=)
c.315G>C (p.Thr105=)
c.327G>C (p.Thr109=)
c.432G>C (p.Thr144=)
c.513G>C (p.Thr171=)
c.867G>C (p.Thr289=)
c.351G>C (p.Thr117=)
n.552G>C
n.977G>C
n.942G>C
20g.3234222C>TCA9742313SLC4A11c.384G>A (p.Thr128=)
c.315G>A (p.Thr105=)
c.327G>A (p.Thr109=)
c.432G>A (p.Thr144=)
c.513G>A (p.Thr171=)
c.867G>A (p.Thr289=)
c.351G>A (p.Thr117=)
n.552G>A
n.977G>A
n.942G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234223G>ACA9742314SLC4A11c.383C>T (p.Thr128Met)
c.314C>T (p.Thr105Met)
c.326C>T (p.Thr109Met)
c.431C>T (p.Thr144Met)
c.512C>T (p.Thr171Met)
c.866C>T (p.Thr289Met)
c.350C>T (p.Thr117Met)
n.551C>T
n.976C>T
n.941C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234223G>CCA408093930SLC4A11c.383C>G (p.Thr128Arg)
c.314C>G (p.Thr105Arg)
c.326C>G (p.Thr109Arg)
c.431C>G (p.Thr144Arg)
c.512C>G (p.Thr171Arg)
c.866C>G (p.Thr289Arg)
c.350C>G (p.Thr117Arg)
n.551C>G
n.976C>G
n.941C>G
20g.3234223G=CA2346478009SLC4A11c.383C= (p.Thr128=)
c.314C= (p.Thr105=)
c.326C= (p.Thr109=)
c.431C= (p.Thr144=)
c.512C= (p.Thr171=)
c.866C= (p.Thr289=)
c.350C= (p.Thr117=)
n.551C=
n.976C=
n.941C=
20g.3234223G>TCA408093932SLC4A11c.383C>A (p.Thr128Lys)
c.314C>A (p.Thr105Lys)
c.326C>A (p.Thr109Lys)
c.431C>A (p.Thr144Lys)
c.512C>A (p.Thr171Lys)
c.866C>A (p.Thr289Lys)
c.350C>A (p.Thr117Lys)
n.551C>A
n.976C>A
n.941C>A
20g.3234224T>ACA408093940SLC4A11c.382A>T (p.Thr128Ser)
c.313A>T (p.Thr105Ser)
c.325A>T (p.Thr109Ser)
c.430A>T (p.Thr144Ser)
c.511A>T (p.Thr171Ser)
c.865A>T (p.Thr289Ser)
c.349A>T (p.Thr117Ser)
n.550A>T
n.975A>T
n.940A>T
20g.3234224T>CCA408093938SLC4A11c.382A>G (p.Thr128Ala)
c.313A>G (p.Thr105Ala)
c.325A>G (p.Thr109Ala)
c.430A>G (p.Thr144Ala)
c.511A>G (p.Thr171Ala)
c.865A>G (p.Thr289Ala)
c.349A>G (p.Thr117Ala)
n.550A>G
n.975A>G
n.940A>G
20g.3234224T>GCA408093935SLC4A11c.382A>C (p.Thr128Pro)
c.313A>C (p.Thr105Pro)
c.325A>C (p.Thr109Pro)
c.430A>C (p.Thr144Pro)
c.511A>C (p.Thr171Pro)
c.865A>C (p.Thr289Pro)
c.349A>C (p.Thr117Pro)
n.550A>C
n.975A>C
n.940A>C
20g.3234225C>ACA408093943SLC4A11c.381G>T (p.Glu127Asp)
c.312G>T (p.Glu104Asp)
c.324G>T (p.Glu108Asp)
c.429G>T (p.Glu143Asp)
c.510G>T (p.Glu170Asp)
c.864G>T (p.Glu288Asp)
c.348G>T (p.Glu116Asp)
n.549G>T
n.974G>T
n.939G>T
20g.3234225C>GCA408093944SLC4A11c.381G>C (p.Glu127Asp)
c.312G>C (p.Glu104Asp)
c.324G>C (p.Glu108Asp)
c.429G>C (p.Glu143Asp)
c.510G>C (p.Glu170Asp)
c.864G>C (p.Glu288Asp)
c.348G>C (p.Glu116Asp)
n.549G>C
n.974G>C
n.939G>C
20g.3234225C>TCA509559168SLC4A11c.381G>A (p.Glu127=)
c.312G>A (p.Glu104=)
c.324G>A (p.Glu108=)
c.429G>A (p.Glu143=)
c.510G>A (p.Glu170=)
c.864G>A (p.Glu288=)
c.348G>A (p.Glu116=)
n.549G>A
n.974G>A
n.939G>A
20g.3234226T>ACA408093947SLC4A11c.380A>T (p.Glu127Val)
c.311A>T (p.Glu104Val)
c.323A>T (p.Glu108Val)
c.428A>T (p.Glu143Val)
c.509A>T (p.Glu170Val)
c.863A>T (p.Glu288Val)
c.347A>T (p.Glu116Val)
n.548A>T
n.973A>T
n.938A>T
20g.3234226T>CCA408093948SLC4A11c.380A>G (p.Glu127Gly)
c.311A>G (p.Glu104Gly)
c.323A>G (p.Glu108Gly)
c.428A>G (p.Glu143Gly)
c.509A>G (p.Glu170Gly)
c.863A>G (p.Glu288Gly)
c.347A>G (p.Glu116Gly)
n.548A>G
n.973A>G
n.938A>G
20g.3234226T>GCA408093950SLC4A11c.380A>C (p.Glu127Ala)
c.311A>C (p.Glu104Ala)
c.323A>C (p.Glu108Ala)
c.428A>C (p.Glu143Ala)
c.509A>C (p.Glu170Ala)
c.863A>C (p.Glu288Ala)
c.347A>C (p.Glu116Ala)
n.548A>C
n.973A>C
n.938A>C
20g.3234227C>ACA408093953SLC4A11c.379G>T (p.Glu127Ter)
c.310G>T (p.Glu104Ter)
c.322G>T (p.Glu108Ter)
c.427G>T (p.Glu143Ter)
c.508G>T (p.Glu170Ter)
c.862G>T (p.Glu288Ter)
c.346G>T (p.Glu116Ter)
n.547G>T
n.972G>T
n.937G>T
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.3234227C=CA2346478010SLC4A11c.379G= (p.Glu127=)
c.310G= (p.Glu104=)
c.322G= (p.Glu108=)
c.427G= (p.Glu143=)
c.508G= (p.Glu170=)
c.862G= (p.Glu288=)
c.346G= (p.Glu116=)
n.547G=
n.972G=
n.937G=
20g.3234227C>GCA408093955SLC4A11c.379G>C (p.Glu127Gln)
c.310G>C (p.Glu104Gln)
c.322G>C (p.Glu108Gln)
c.427G>C (p.Glu143Gln)
c.508G>C (p.Glu170Gln)
c.862G>C (p.Glu288Gln)
c.346G>C (p.Glu116Gln)
n.547G>C
n.972G>C
n.937G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3234227C>TCA408093957SLC4A11c.379G>A (p.Glu127Lys)
c.310G>A (p.Glu104Lys)
c.322G>A (p.Glu108Lys)
c.427G>A (p.Glu143Lys)
c.508G>A (p.Glu170Lys)
c.862G>A (p.Glu288Lys)
c.346G>A (p.Glu116Lys)
n.547G>A
n.972G>A
n.937G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3234228G>ACA9742315SLC4A11c.378C>T (p.Asn126=)
c.309C>T (p.Asn103=)
c.321C>T (p.Asn107=)
c.426C>T (p.Asn142=)
c.507C>T (p.Asn169=)
c.861C>T (p.Asn287=)
c.345C>T (p.Asn115=)
n.546C>T
n.971C>T
n.936C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.3234228G>CCA408093962SLC4A11c.378C>G (p.Asn126Lys)
c.309C>G (p.Asn103Lys)
c.321C>G (p.Asn107Lys)
c.426C>G (p.Asn142Lys)
c.507C>G (p.Asn169Lys)
c.861C>G (p.Asn287Lys)
c.345C>G (p.Asn115Lys)
n.546C>G
n.971C>G
n.936C>G
20g.3234228G=CA2346478011SLC4A11c.378C= (p.Asn126=)
c.309C= (p.Asn103=)
c.321C= (p.Asn107=)
c.426C= (p.Asn142=)
c.507C= (p.Asn169=)
c.861C= (p.Asn287=)
c.345C= (p.Asn115=)
n.546C=
n.971C=
n.936C=
20g.3234228G>TCA408093964SLC4A11c.378C>A (p.Asn126Lys)
c.309C>A (p.Asn103Lys)
c.321C>A (p.Asn107Lys)
c.426C>A (p.Asn142Lys)
c.507C>A (p.Asn169Lys)
c.861C>A (p.Asn287Lys)
c.345C>A (p.Asn115Lys)
n.546C>A
n.971C>A
n.936C>A
20g.3234229T>ACA408093970SLC4A11c.377A>T (p.Asn126Ile)
c.308A>T (p.Asn103Ile)
c.320A>T (p.Asn107Ile)
c.425A>T (p.Asn142Ile)
c.506A>T (p.Asn169Ile)
c.860A>T (p.Asn287Ile)
c.344A>T (p.Asn115Ile)
n.545A>T
n.970A>T
n.935A>T
20g.3234229T>CCA408093972SLC4A11c.377A>G (p.Asn126Ser)
c.308A>G (p.Asn103Ser)
c.320A>G (p.Asn107Ser)
c.425A>G (p.Asn142Ser)
c.506A>G (p.Asn169Ser)
c.860A>G (p.Asn287Ser)
c.344A>G (p.Asn115Ser)
n.545A>G
n.970A>G
n.935A>G
20g.3234229T>GCA408093969SLC4A11c.377A>C (p.Asn126Thr)
c.308A>C (p.Asn103Thr)
c.320A>C (p.Asn107Thr)
c.425A>C (p.Asn142Thr)
c.506A>C (p.Asn169Thr)
c.860A>C (p.Asn287Thr)
c.344A>C (p.Asn115Thr)
n.545A>C
n.970A>C
n.935A>C
20g.3234230T>ACA408093975SLC4A11c.376A>T (p.Asn126Tyr)
c.307A>T (p.Asn103Tyr)
c.319A>T (p.Asn107Tyr)
c.424A>T (p.Asn142Tyr)
c.505A>T (p.Asn169Tyr)
c.859A>T (p.Asn287Tyr)
c.343A>T (p.Asn115Tyr)
n.544A>T
n.969A>T
n.934A>T
20g.3234230T>CCA408093978SLC4A11c.376A>G (p.Asn126Asp)
c.307A>G (p.Asn103Asp)
c.319A>G (p.Asn107Asp)
c.424A>G (p.Asn142Asp)
c.505A>G (p.Asn169Asp)
c.859A>G (p.Asn287Asp)
c.343A>G (p.Asn115Asp)
n.544A>G
n.969A>G
n.934A>G
20g.3234230T>GCA408093980SLC4A11c.376A>C (p.Asn126His)
c.307A>C (p.Asn103His)
c.319A>C (p.Asn107His)
c.424A>C (p.Asn142His)
c.505A>C (p.Asn169His)
c.859A>C (p.Asn287His)
c.343A>C (p.Asn115His)
n.544A>C
n.969A>C
n.934A>C
20g.3234231C>ACA509559175SLC4A11c.375G>T (p.Leu125=)
c.306G>T (p.Leu102=)
c.318G>T (p.Leu106=)
c.423G>T (p.Leu141=)
c.504G>T (p.Leu168=)
c.858G>T (p.Leu286=)
c.342G>T (p.Leu114=)
n.543G>T
n.968G>T
n.933G>T
20g.3234231C=CA2346478012SLC4A11c.375G= (p.Leu125=)
c.306G= (p.Leu102=)
c.318G= (p.Leu106=)
c.423G= (p.Leu141=)
c.504G= (p.Leu168=)
c.858G= (p.Leu286=)
c.342G= (p.Leu114=)
n.543G=
n.968G=
n.933G=
20g.3234231C>GCA9742316SLC4A11c.375G>C (p.Leu125=)
c.306G>C (p.Leu102=)
c.318G>C (p.Leu106=)
c.423G>C (p.Leu141=)
c.504G>C (p.Leu168=)
c.858G>C (p.Leu286=)
c.342G>C (p.Leu114=)
n.543G>C
n.968G>C
n.933G>C
ClinVar dbSNP ExAC gnomAD v4
20g.3234231C>TCA509559172SLC4A11c.375G>A (p.Leu125=)
c.306G>A (p.Leu102=)
c.318G>A (p.Leu106=)
c.423G>A (p.Leu141=)
c.504G>A (p.Leu168=)
c.858G>A (p.Leu286=)
c.342G>A (p.Leu114=)
n.543G>A
n.968G>A
n.933G>A
20g.3234232A>CCA408093984SLC4A11c.374T>G (p.Leu125Arg)
c.305T>G (p.Leu102Arg)
c.317T>G (p.Leu106Arg)
c.422T>G (p.Leu141Arg)
c.503T>G (p.Leu168Arg)
c.857T>G (p.Leu286Arg)
c.341T>G (p.Leu114Arg)
n.542T>G
n.967T>G
n.932T>G
20g.3234232A>GCA408093986SLC4A11c.374T>C (p.Leu125Pro)
c.305T>C (p.Leu102Pro)
c.317T>C (p.Leu106Pro)
c.422T>C (p.Leu141Pro)
c.503T>C (p.Leu168Pro)
c.857T>C (p.Leu286Pro)
c.341T>C (p.Leu114Pro)
n.542T>C
n.967T>C
n.932T>C
20g.3234232A>TCA408093989SLC4A11c.374T>A (p.Leu125Gln)
c.305T>A (p.Leu102Gln)
c.317T>A (p.Leu106Gln)
c.422T>A (p.Leu141Gln)
c.503T>A (p.Leu168Gln)
c.857T>A (p.Leu286Gln)
c.341T>A (p.Leu114Gln)
n.542T>A
n.967T>A
n.932T>A
20g.3234233G>ACA509559176SLC4A11c.373C>T (p.Leu125=)
c.304C>T (p.Leu102=)
c.316C>T (p.Leu106=)
c.421C>T (p.Leu141=)
c.502C>T (p.Leu168=)
c.856C>T (p.Leu286=)
c.340C>T (p.Leu114=)
n.541C>T
n.966C>T
n.931C>T
20g.3234233G>CCA408093993SLC4A11c.373C>G (p.Leu125Val)
c.304C>G (p.Leu102Val)
c.316C>G (p.Leu106Val)
c.421C>G (p.Leu141Val)
c.502C>G (p.Leu168Val)
c.856C>G (p.Leu286Val)
c.340C>G (p.Leu114Val)
n.541C>G
n.966C>G
n.931C>G
20g.3234233G>TCA408093995SLC4A11c.373C>A (p.Leu125Met)
c.304C>A (p.Leu102Met)
c.316C>A (p.Leu106Met)
c.421C>A (p.Leu141Met)
c.502C>A (p.Leu168Met)
c.856C>A (p.Leu286Met)
c.340C>A (p.Leu114Met)
n.541C>A
n.966C>A
n.931C>A
20g.3234234G>ACA509559179SLC4A11c.372C>T (p.Val124=)
c.303C>T (p.Val101=)
c.315C>T (p.Val105=)
c.420C>T (p.Val140=)
c.501C>T (p.Val167=)
c.855C>T (p.Val285=)
c.339C>T (p.Val113=)
n.540C>T
n.965C>T
n.930C>T
20g.3234234G>CCA509559182SLC4A11c.372C>G (p.Val124=)
c.303C>G (p.Val101=)
c.315C>G (p.Val105=)
c.420C>G (p.Val140=)
c.501C>G (p.Val167=)
c.855C>G (p.Val285=)
c.339C>G (p.Val113=)
n.540C>G
n.965C>G
n.930C>G
20g.3234234G>TCA509559181SLC4A11c.372C>A (p.Val124=)
c.303C>A (p.Val101=)
c.315C>A (p.Val105=)
c.420C>A (p.Val140=)
c.501C>A (p.Val167=)
c.855C>A (p.Val285=)
c.339C>A (p.Val113=)
n.540C>A
n.965C>A
n.930C>A
20g.3234235A>CCA408093997SLC4A11c.371T>G (p.Val124Gly)
c.302T>G (p.Val101Gly)
c.314T>G (p.Val105Gly)
c.419T>G (p.Val140Gly)
c.500T>G (p.Val167Gly)
c.314T>G
c.854T>G (p.Val285Gly)
c.338T>G (p.Val113Gly)
n.539T>G
n.964T>G
n.929T>G
20g.3234235A>GCA408093999SLC4A11c.371T>C (p.Val124Ala)
c.302T>C (p.Val101Ala)
c.314T>C (p.Val105Ala)
c.419T>C (p.Val140Ala)
c.500T>C (p.Val167Ala)
c.314T>C
c.854T>C (p.Val285Ala)
c.338T>C (p.Val113Ala)
n.539T>C
n.964T>C
n.929T>C
20g.3234235A>TCA408094001SLC4A11c.371T>A (p.Val124Asp)
c.302T>A (p.Val101Asp)
c.314T>A (p.Val105Asp)
c.419T>A (p.Val140Asp)
c.500T>A (p.Val167Asp)
c.314T>A
c.854T>A (p.Val285Asp)
c.338T>A (p.Val113Asp)
n.539T>A
n.964T>A
n.929T>A
20g.3234236C>ACA408094005SLC4A11c.370G>T (p.Val124Phe)
c.301G>T (p.Val101Phe)
c.313G>T (p.Val105Phe)
c.418G>T (p.Val140Phe)
c.499G>T (p.Val167Phe)
c.313G>T
c.853G>T (p.Val285Phe)
c.337G>T (p.Val113Phe)
n.538G>T
n.963G>T
n.928G>T
20g.3234236C=CA2346478013SLC4A11c.370G= (p.Val124=)
c.301G= (p.Val101=)
c.313G= (p.Val105=)
c.418G= (p.Val140=)
c.499G= (p.Val167=)
c.313G=
c.853G= (p.Val285=)
c.337G= (p.Val113=)
n.538G=
n.963G=
n.928G=
20g.3234236C>GCA408094007SLC4A11c.370G>C (p.Val124Leu)
c.301G>C (p.Val101Leu)
c.313G>C (p.Val105Leu)
c.418G>C (p.Val140Leu)
c.499G>C (p.Val167Leu)
c.313G>C
c.853G>C (p.Val285Leu)
c.337G>C (p.Val113Leu)
n.538G>C
n.963G>C
n.928G>C
dbSNP
20g.3234236C>TCA9742317SLC4A11c.370G>A (p.Val124Ile)
c.301G>A (p.Val101Ile)
c.313G>A (p.Val105Ile)
c.418G>A (p.Val140Ile)
c.499G>A (p.Val167Ile)
c.313G>A
c.853G>A (p.Val285Ile)
c.337G>A (p.Val113Ile)
n.538G>A
n.963G>A
n.928G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.3234237G>ACA9742318SLC4A11c.369C>T (p.Ile123=)
c.300C>T (p.Ile100=)
c.312C>T (p.Ile104=)
c.417C>T (p.Ile139=)
c.498C>T (p.Ile166=)
c.852C>T (p.Ile284=)
c.336C>T (p.Ile112=)
n.537C>T
n.962C>T
n.927C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234237G>CCA408094011SLC4A11c.369C>G (p.Ile123Met)
c.300C>G (p.Ile100Met)
c.312C>G (p.Ile104Met)
c.417C>G (p.Ile139Met)
c.498C>G (p.Ile166Met)
c.852C>G (p.Ile284Met)
c.336C>G (p.Ile112Met)
n.537C>G
n.962C>G
n.927C>G
20g.3234237G=CA2346478014SLC4A11c.369C= (p.Ile123=)
c.300C= (p.Ile100=)
c.312C= (p.Ile104=)
c.417C= (p.Ile139=)
c.498C= (p.Ile166=)
c.852C= (p.Ile284=)
c.336C= (p.Ile112=)
n.537C=
n.962C=
n.927C=
20g.3234237G>TCA509559186SLC4A11c.369C>A (p.Ile123=)
c.300C>A (p.Ile100=)
c.312C>A (p.Ile104=)
c.417C>A (p.Ile139=)
c.498C>A (p.Ile166=)
c.852C>A (p.Ile284=)
c.336C>A (p.Ile112=)
n.537C>A
n.962C>A
n.927C>A
20g.3234238A>CCA408094012SLC4A11c.368T>G (p.Ile123Ser)
c.299T>G (p.Ile100Ser)
c.311T>G (p.Ile104Ser)
c.416T>G (p.Ile139Ser)
c.497T>G (p.Ile166Ser)
c.851T>G (p.Ile284Ser)
c.335T>G (p.Ile112Ser)
n.536T>G
n.961T>G
n.926T>G
20g.3234238A>GCA408094014SLC4A11c.368T>C (p.Ile123Thr)
c.299T>C (p.Ile100Thr)
c.311T>C (p.Ile104Thr)
c.416T>C (p.Ile139Thr)
c.497T>C (p.Ile166Thr)
c.851T>C (p.Ile284Thr)
c.335T>C (p.Ile112Thr)
n.536T>C
n.961T>C
n.926T>C
20g.3234238A>TCA408094016SLC4A11c.368T>A (p.Ile123Asn)
c.299T>A (p.Ile100Asn)
c.311T>A (p.Ile104Asn)
c.416T>A (p.Ile139Asn)
c.497T>A (p.Ile166Asn)
c.851T>A (p.Ile284Asn)
c.335T>A (p.Ile112Asn)
n.536T>A
n.961T>A
n.926T>A
20g.3234239T>ACA310994540SLC4A11c.367A>T (p.Ile123Phe)
c.298A>T (p.Ile100Phe)
c.310A>T (p.Ile104Phe)
c.415A>T (p.Ile139Phe)
c.496A>T (p.Ile166Phe)
c.850A>T (p.Ile284Phe)
c.334A>T (p.Ile112Phe)
n.535A>T
n.960A>T
n.925A>T
dbSNP
20g.3234239T>CCA408094020SLC4A11c.367A>G (p.Ile123Val)
c.298A>G (p.Ile100Val)
c.310A>G (p.Ile104Val)
c.415A>G (p.Ile139Val)
c.496A>G (p.Ile166Val)
c.850A>G (p.Ile284Val)
c.334A>G (p.Ile112Val)
n.535A>G
n.960A>G
n.925A>G
gnomAD v4
20g.3234239T>GCA408094021SLC4A11c.367A>C (p.Ile123Leu)
c.298A>C (p.Ile100Leu)
c.310A>C (p.Ile104Leu)
c.415A>C (p.Ile139Leu)
c.496A>C (p.Ile166Leu)
c.850A>C (p.Ile284Leu)
c.334A>C (p.Ile112Leu)
n.535A>C
n.960A>C
n.925A>C
20g.3234239T=CA2346478015SLC4A11c.367A= (p.Ile123=)
c.298A= (p.Ile100=)
c.310A= (p.Ile104=)
c.415A= (p.Ile139=)
c.496A= (p.Ile166=)
c.850A= (p.Ile284=)
c.334A= (p.Ile112=)
n.535A=
n.960A=
n.925A=
20g.3234240G>ACA509559188SLC4A11c.366C>T (p.Ser122=)
c.297C>T (p.Ser99=)
c.309C>T (p.Ser103=)
c.414C>T (p.Ser138=)
c.495C>T (p.Ser165=)
c.849C>T (p.Ser283=)
c.333C>T (p.Ser111=)
n.534C>T
n.959C>T
n.924C>T
20g.3234240G>CCA408094024SLC4A11c.366C>G (p.Ser122Arg)
c.297C>G (p.Ser99Arg)
c.309C>G (p.Ser103Arg)
c.414C>G (p.Ser138Arg)
c.495C>G (p.Ser165Arg)
c.849C>G (p.Ser283Arg)
c.333C>G (p.Ser111Arg)
n.534C>G
n.959C>G
n.924C>G
20g.3234240G>TCA408094026SLC4A11c.366C>A (p.Ser122Arg)
c.297C>A (p.Ser99Arg)
c.309C>A (p.Ser103Arg)
c.414C>A (p.Ser138Arg)
c.495C>A (p.Ser165Arg)
c.849C>A (p.Ser283Arg)
c.333C>A (p.Ser111Arg)
n.534C>A
n.959C>A
n.924C>A
20g.3234241C>ACA408094029SLC4A11c.365G>T (p.Ser122Ile)
c.296G>T (p.Ser99Ile)
c.308G>T (p.Ser103Ile)
c.413G>T (p.Ser138Ile)
c.494G>T (p.Ser165Ile)
c.848G>T (p.Ser283Ile)
c.332G>T (p.Ser111Ile)
n.533G>T
n.958G>T
n.923G>T
20g.3234241C=CA2346478016SLC4A11c.365G= (p.Ser122=)
c.296G= (p.Ser99=)
c.308G= (p.Ser103=)
c.413G= (p.Ser138=)
c.494G= (p.Ser165=)
c.848G= (p.Ser283=)
c.332G= (p.Ser111=)
n.533G=
n.958G=
n.923G=
20g.3234241C>GCA408094031SLC4A11c.365G>C (p.Ser122Thr)
c.296G>C (p.Ser99Thr)
c.308G>C (p.Ser103Thr)
c.413G>C (p.Ser138Thr)
c.494G>C (p.Ser165Thr)
c.848G>C (p.Ser283Thr)
c.332G>C (p.Ser111Thr)
n.533G>C
n.958G>C
n.923G>C
20g.3234241C>TCA310994542SLC4A11c.365G>A (p.Ser122Asn)
c.296G>A (p.Ser99Asn)
c.308G>A (p.Ser103Asn)
c.413G>A (p.Ser138Asn)
c.494G>A (p.Ser165Asn)
c.848G>A (p.Ser283Asn)
c.332G>A (p.Ser111Asn)
n.533G>A
n.958G>A
n.923G>A
dbSNP
20g.3234242T>ACA408094041SLC4A11c.364A>T (p.Ser122Cys)
c.295A>T (p.Ser99Cys)
c.307A>T (p.Ser103Cys)
c.412A>T (p.Ser138Cys)
c.493A>T (p.Ser165Cys)
c.847A>T (p.Ser283Cys)
c.331A>T (p.Ser111Cys)
n.532A>T
n.957A>T
n.922A>T
20g.3234242T>CCA408094039SLC4A11c.364A>G (p.Ser122Gly)
c.295A>G (p.Ser99Gly)
c.307A>G (p.Ser103Gly)
c.412A>G (p.Ser138Gly)
c.493A>G (p.Ser165Gly)
c.847A>G (p.Ser283Gly)
c.331A>G (p.Ser111Gly)
n.532A>G
n.957A>G
n.922A>G
20g.3234242T>GCA408094037SLC4A11c.364A>C (p.Ser122Arg)
c.295A>C (p.Ser99Arg)
c.307A>C (p.Ser103Arg)
c.412A>C (p.Ser138Arg)
c.493A>C (p.Ser165Arg)
c.847A>C (p.Ser283Arg)
c.331A>C (p.Ser111Arg)
n.532A>C
n.957A>C
n.922A>C
20g.3234243G>ACA509559192SLC4A11c.363C>T (p.Ala121=)
c.294C>T (p.Ala98=)
c.306C>T (p.Ala102=)
c.411C>T (p.Ala137=)
c.492C>T (p.Ala164=)
c.846C>T (p.Ala282=)
c.330C>T (p.Ala110=)
n.531C>T
n.956C>T
n.921C>T
COSMIC COSMIC
20g.3234243G>CCA310994544SLC4A11c.363C>G (p.Ala121=)
c.294C>G (p.Ala98=)
c.306C>G (p.Ala102=)
c.411C>G (p.Ala137=)
c.492C>G (p.Ala164=)
c.846C>G (p.Ala282=)
c.330C>G (p.Ala110=)
n.531C>G
n.956C>G
n.921C>G
dbSNP gnomAD v4
20g.3234243G=CA2346478017SLC4A11c.363C= (p.Ala121=)
c.294C= (p.Ala98=)
c.306C= (p.Ala102=)
c.411C= (p.Ala137=)
c.492C= (p.Ala164=)
c.846C= (p.Ala282=)
c.330C= (p.Ala110=)
n.531C=
n.956C=
n.921C=
20g.3234243G>TCA509559193SLC4A11c.363C>A (p.Ala121=)
c.294C>A (p.Ala98=)
c.306C>A (p.Ala102=)
c.411C>A (p.Ala137=)
c.492C>A (p.Ala164=)
c.846C>A (p.Ala282=)
c.330C>A (p.Ala110=)
n.531C>A
n.956C>A
n.921C>A
20g.3234244G>ACA408094045SLC4A11c.362C>T (p.Ala121Val)
c.293C>T (p.Ala98Val)
c.305C>T (p.Ala102Val)
c.410C>T (p.Ala137Val)
c.491C>T (p.Ala164Val)
c.845C>T (p.Ala282Val)
c.329C>T (p.Ala110Val)
n.530C>T
n.955C>T
n.920C>T
20g.3234244G>CCA408094048SLC4A11c.362C>G (p.Ala121Gly)
c.293C>G (p.Ala98Gly)
c.305C>G (p.Ala102Gly)
c.410C>G (p.Ala137Gly)
c.491C>G (p.Ala164Gly)
c.845C>G (p.Ala282Gly)
c.329C>G (p.Ala110Gly)
n.530C>G
n.955C>G
n.920C>G
20g.3234244G=CA2346478018SLC4A11c.362C= (p.Ala121=)
c.293C= (p.Ala98=)
c.305C= (p.Ala102=)
c.410C= (p.Ala137=)
c.491C= (p.Ala164=)
c.845C= (p.Ala282=)
c.329C= (p.Ala110=)
n.530C=
n.955C=
n.920C=
20g.3234244G>TCA408094046SLC4A11c.362C>A (p.Ala121Asp)
c.293C>A (p.Ala98Asp)
c.305C>A (p.Ala102Asp)
c.410C>A (p.Ala137Asp)
c.491C>A (p.Ala164Asp)
c.845C>A (p.Ala282Asp)
c.329C>A (p.Ala110Asp)
n.530C>A
n.955C>A
n.920C>A
dbSNP gnomAD v4
20g.3234245C>ACA9742319SLC4A11c.361G>T (p.Ala121Ser)
c.292G>T (p.Ala98Ser)
c.304G>T (p.Ala102Ser)
c.409G>T (p.Ala137Ser)
c.490G>T (p.Ala164Ser)
c.844G>T (p.Ala282Ser)
c.328G>T (p.Ala110Ser)
n.529G>T
n.954G>T
n.919G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.3234245C=CA2346478019SLC4A11c.361G= (p.Ala121=)
c.292G= (p.Ala98=)
c.304G= (p.Ala102=)
c.409G= (p.Ala137=)
c.490G= (p.Ala164=)
c.844G= (p.Ala282=)
c.328G= (p.Ala110=)
n.529G=
n.954G=
n.919G=
20g.3234245C>GCA408094053SLC4A11c.361G>C (p.Ala121Pro)
c.292G>C (p.Ala98Pro)
c.304G>C (p.Ala102Pro)
c.409G>C (p.Ala137Pro)
c.490G>C (p.Ala164Pro)
c.844G>C (p.Ala282Pro)
c.328G>C (p.Ala110Pro)
n.529G>C
n.954G>C
n.919G>C
20g.3234245C>TCA408094051SLC4A11c.361G>A (p.Ala121Thr)
c.292G>A (p.Ala98Thr)
c.304G>A (p.Ala102Thr)
c.409G>A (p.Ala137Thr)
c.490G>A (p.Ala164Thr)
c.844G>A (p.Ala282Thr)
c.328G>A (p.Ala110Thr)
n.529G>A
n.954G>A
n.919G>A
20g.3234246C>ACA408094055SLC4A11c.360G>T (p.Gln120His)
c.292-1G>T (n.292-1G>T)
c.303G>T (p.Gln101His)
c.408G>T (p.Gln136His)
c.489G>T (p.Gln163His)
c.843G>T (p.Gln281His)
c.327G>T (p.Gln109His)
n.528G>T
n.953G>T
n.918G>T
20g.3234246C>GCA408094057SLC4A11c.360G>C (p.Gln120His)
c.292-1G>C (n.292-1G>C)
c.303G>C (p.Gln101His)
c.408G>C (p.Gln136His)
c.489G>C (p.Gln163His)
c.843G>C (p.Gln281His)
c.327G>C (p.Gln109His)
n.528G>C
n.953G>C
n.918G>C
20g.3234246C>TCA509559195SLC4A11c.360G>A (p.Gln120=)
c.292-1G>A (n.292-1G>A)
c.303G>A (p.Gln101=)
c.408G>A (p.Gln136=)
c.489G>A (p.Gln163=)
c.843G>A (p.Gln281=)
c.327G>A (p.Gln109=)
n.528G>A
n.953G>A
n.918G>A
20g.3234247T>ACA408094058SLC4A11c.359A>T (p.Gln120Leu)
c.292-2A>T (n.292-2A>T)
c.302A>T (p.Gln101Leu)
c.407A>T (p.Gln136Leu)
c.488A>T (p.Gln163Leu)
c.842A>T (p.Gln281Leu)
c.326A>T (p.Gln109Leu)
n.527A>T
n.952A>T
n.917A>T
20g.3234247T>CCA408094061SLC4A11c.359A>G (p.Gln120Arg)
c.292-2A>G (n.292-2A>G)
c.302A>G (p.Gln101Arg)
c.407A>G (p.Gln136Arg)
c.488A>G (p.Gln163Arg)
c.842A>G (p.Gln281Arg)
c.326A>G (p.Gln109Arg)
n.527A>G
n.952A>G
n.917A>G
dbSNP gnomAD v2 gnomAD v4
20g.3234247T>GCA408094059SLC4A11c.359A>C (p.Gln120Pro)
c.292-2A>C (n.292-2A>C)
c.302A>C (p.Gln101Pro)
c.407A>C (p.Gln136Pro)
c.488A>C (p.Gln163Pro)
c.842A>C (p.Gln281Pro)
c.326A>C (p.Gln109Pro)
n.527A>C
n.952A>C
n.917A>C
20g.3234247T=CA2346478020SLC4A11c.359A= (p.Gln120=)
c.292-2A= (n.292-2A=)
c.302A= (p.Gln101=)
c.407A= (p.Gln136=)
c.488A= (p.Gln163=)
c.842A= (p.Gln281=)
c.326A= (p.Gln109=)
n.527A=
n.952A=
n.917A=
20g.3234248G>ACA408094064SLC4A11c.358C>T (p.Gln120Ter)
c.292-3C>T (n.292-3C>T)
c.301C>T (p.Gln101Ter)
c.406C>T (p.Gln136Ter)
c.487C>T (p.Gln163Ter)
c.841C>T (p.Gln281Ter)
c.325C>T (p.Gln109Ter)
n.526C>T
n.951C>T
n.916C>T
20g.3234248G>CCA408094066SLC4A11c.358C>G (p.Gln120Glu)
c.292-3C>G (n.292-3C>G)
c.301C>G (p.Gln101Glu)
c.406C>G (p.Gln136Glu)
c.487C>G (p.Gln163Glu)
c.841C>G (p.Gln281Glu)
c.325C>G (p.Gln109Glu)
n.526C>G
n.951C>G
n.916C>G
20g.3234248G>TCA408094068SLC4A11c.358C>A (p.Gln120Lys)
c.292-3C>A (n.292-3C>A)
c.301C>A (p.Gln101Lys)
c.406C>A (p.Gln136Lys)
c.487C>A (p.Gln163Lys)
c.841C>A (p.Gln281Lys)
c.325C>A (p.Gln109Lys)
n.526C>A
n.951C>A
n.916C>A
20g.3234249C>ACA509559196SLC4A11c.357G>T (p.Ala119=)
c.292-4G>T (n.292-4G>T)
c.300G>T (p.Ala100=)
c.405G>T (p.Ala135=)
c.486G>T (p.Ala162=)
c.840G>T (p.Ala280=)
c.324G>T (p.Ala108=)
n.525G>T
n.950G>T
n.915G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
20g.3234249C=CA2346478021SLC4A11c.357G= (p.Ala119=)
c.292-4G= (n.292-4G=)
c.300G= (p.Ala100=)
c.405G= (p.Ala135=)
c.486G= (p.Ala162=)
c.840G= (p.Ala280=)
c.324G= (p.Ala108=)
n.525G=
n.950G=
n.915G=
20g.3234249C>GCA509559197SLC4A11c.357G>C (p.Ala119=)
c.292-4G>C (n.292-4G>C)
c.300G>C (p.Ala100=)
c.405G>C (p.Ala135=)
c.486G>C (p.Ala162=)
c.840G>C (p.Ala280=)
c.324G>C (p.Ala108=)
n.525G>C
n.950G>C
n.915G>C
gnomAD v4
20g.3234249C>TCA9742320SLC4A11c.357G>A (p.Ala119=)
c.292-4G>A (n.292-4G>A)
c.300G>A (p.Ala100=)
c.405G>A (p.Ala135=)
c.486G>A (p.Ala162=)
c.840G>A (p.Ala280=)
c.324G>A (p.Ala108=)
n.525G>A
n.950G>A
n.915G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234250G>ACA9742321SLC4A11c.356C>T (p.Ala119Val)
c.292-5C>T (n.292-5C>T)
c.299C>T (p.Ala100Val)
c.404C>T (p.Ala135Val)
c.485C>T (p.Ala162Val)
c.839C>T (p.Ala280Val)
c.323C>T (p.Ala108Val)
n.524C>T
n.949C>T
n.914C>T
dbSNP ExAC gnomAD v2 gnomAD v4
20g.3234250G>CCA408094072SLC4A11c.356C>G (p.Ala119Gly)
c.292-5C>G (n.292-5C>G)
c.299C>G (p.Ala100Gly)
c.404C>G (p.Ala135Gly)
c.485C>G (p.Ala162Gly)
c.839C>G (p.Ala280Gly)
c.323C>G (p.Ala108Gly)
n.524C>G
n.949C>G
n.914C>G
20g.3234250G=CA2346478022SLC4A11c.356C= (p.Ala119=)
c.292-5C= (n.292-5C=)
c.299C= (p.Ala100=)
c.404C= (p.Ala135=)
c.485C= (p.Ala162=)
c.839C= (p.Ala280=)
c.323C= (p.Ala108=)
n.524C=
n.949C=
n.914C=
20g.3234250G>TCA408094074SLC4A11c.356C>A (p.Ala119Glu)
c.292-5C>A (n.292-5C>A)
c.299C>A (p.Ala100Glu)
c.404C>A (p.Ala135Glu)
c.485C>A (p.Ala162Glu)
c.839C>A (p.Ala280Glu)
c.323C>A (p.Ala108Glu)
n.524C>A
n.949C>A
n.914C>A
dbSNP
20g.3234251C>ACA408094078SLC4A11c.355G>T (p.Ala119Ser)
c.292-6G>T (n.292-6G>T)
c.298G>T (p.Ala100Ser)
c.403G>T (p.Ala135Ser)
c.484G>T (p.Ala162Ser)
c.838G>T (p.Ala280Ser)
c.322G>T (p.Ala108Ser)
n.523G>T
n.948G>T
n.913G>T
20g.3234251C>GCA408094080SLC4A11c.355G>C (p.Ala119Pro)
c.292-6G>C (n.292-6G>C)
c.298G>C (p.Ala100Pro)
c.403G>C (p.Ala135Pro)
c.484G>C (p.Ala162Pro)
c.838G>C (p.Ala280Pro)
c.322G>C (p.Ala108Pro)
n.523G>C
n.948G>C
n.913G>C
20g.3234251C>TCA408094083SLC4A11c.355G>A (p.Ala119Thr)
c.292-6G>A (n.292-6G>A)
c.298G>A (p.Ala100Thr)
c.403G>A (p.Ala135Thr)
c.484G>A (p.Ala162Thr)
c.838G>A (p.Ala280Thr)
c.322G>A (p.Ala108Thr)
n.523G>A
n.948G>A
n.913G>A
gnomAD v4
20g.3234252C>ACA509559199SLC4A11c.354G>T (p.Leu118=)
c.292-7G>T (n.292-7G>T)
c.297G>T (p.Leu99=)
c.402G>T (p.Leu134=)
c.483G>T (p.Leu161=)
c.837G>T (p.Leu279=)
c.321G>T (p.Leu107=)
n.522G>T
n.947G>T
n.912G>T
20g.3234252C>GCA509559203SLC4A11c.354G>C (p.Leu118=)
c.292-7G>C (n.292-7G>C)
c.297G>C (p.Leu99=)
c.402G>C (p.Leu134=)
c.483G>C (p.Leu161=)
c.837G>C (p.Leu279=)
c.321G>C (p.Leu107=)
n.522G>C
n.947G>C
n.912G>C
20g.3234252C>TCA509559201SLC4A11c.354G>A (p.Leu118=)
c.292-7G>A (n.292-7G>A)
c.297G>A (p.Leu99=)
c.402G>A (p.Leu134=)
c.483G>A (p.Leu161=)
c.837G>A (p.Leu279=)
c.321G>A (p.Leu107=)
n.522G>A
n.947G>A
n.912G>A
20g.3234253A>CCA408094090SLC4A11c.353T>G (p.Leu118Arg)
c.292-8T>G (n.292-8T>G)
c.296T>G (p.Leu99Arg)
c.401T>G (p.Leu134Arg)
c.482T>G (p.Leu161Arg)
c.836T>G (p.Leu279Arg)
c.320T>G (p.Leu107Arg)
n.521T>G
n.946T>G
n.911T>G
20g.3234253A>GCA408094088SLC4A11c.353T>C (p.Leu118Pro)
c.292-8T>C (n.292-8T>C)
c.296T>C (p.Leu99Pro)
c.401T>C (p.Leu134Pro)
c.482T>C (p.Leu161Pro)
c.836T>C (p.Leu279Pro)
c.320T>C (p.Leu107Pro)
n.521T>C
n.946T>C
n.911T>C
20g.3234253A>TCA408094086SLC4A11c.353T>A (p.Leu118Gln)
c.292-8T>A (n.292-8T>A)
c.296T>A (p.Leu99Gln)
c.401T>A (p.Leu134Gln)
c.482T>A (p.Leu161Gln)
c.836T>A (p.Leu279Gln)
c.320T>A (p.Leu107Gln)
n.521T>A
n.946T>A
n.911T>A
20g.3234254G>ACA509559205SLC4A11c.352C>T (p.Leu118=)
c.292-9C>T (n.292-9C>T)
c.295C>T (p.Leu99=)
c.400C>T (p.Leu134=)
c.481C>T (p.Leu161=)
c.835C>T (p.Leu279=)
c.319C>T (p.Leu107=)
n.520C>T
n.945C>T
n.910C>T
20g.3234254G>CCA408094093SLC4A11c.352C>G (p.Leu118Val)
c.292-9C>G (n.292-9C>G)
c.295C>G (p.Leu99Val)
c.400C>G (p.Leu134Val)
c.481C>G (p.Leu161Val)
c.835C>G (p.Leu279Val)
c.319C>G (p.Leu107Val)
n.520C>G
n.945C>G
n.910C>G
20g.3234254G>TCA408094095SLC4A11c.352C>A (p.Leu118Met)
c.292-9C>A (n.292-9C>A)
c.295C>A (p.Leu99Met)
c.400C>A (p.Leu134Met)
c.481C>A (p.Leu161Met)
c.835C>A (p.Leu279Met)
c.319C>A (p.Leu107Met)
n.520C>A
n.945C>A
n.910C>A
20g.3234255G>ACA9742322SLC4A11c.351C>T (p.Phe117=)
c.292-10C>T (n.292-10C>T)
c.294C>T (p.Phe98=)
c.399C>T (p.Phe133=)
c.480C>T (p.Phe160=)
c.834C>T (p.Phe278=)
c.318C>T (p.Phe106=)
n.519C>T
n.944C>T
n.909C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234255G>CCA408094098SLC4A11c.351C>G (p.Phe117Leu)
c.292-10C>G (n.292-10C>G)
c.294C>G (p.Phe98Leu)
c.399C>G (p.Phe133Leu)
c.480C>G (p.Phe160Leu)
c.834C>G (p.Phe278Leu)
c.318C>G (p.Phe106Leu)
n.519C>G
n.944C>G
n.909C>G
20g.3234255G=CA2346478023SLC4A11c.351C= (p.Phe117=)
c.292-10C= (n.292-10C=)
c.294C= (p.Phe98=)
c.399C= (p.Phe133=)
c.480C= (p.Phe160=)
c.834C= (p.Phe278=)
c.318C= (p.Phe106=)
n.519C=
n.944C=
n.909C=
20g.3234255G>TCA408094100SLC4A11c.351C>A (p.Phe117Leu)
c.292-10C>A (n.292-10C>A)
c.294C>A (p.Phe98Leu)
c.399C>A (p.Phe133Leu)
c.480C>A (p.Phe160Leu)
c.834C>A (p.Phe278Leu)
c.318C>A (p.Phe106Leu)
n.519C>A
n.944C>A
n.909C>A
20g.3234256A>CCA408094103SLC4A11c.350T>G (p.Phe117Cys)
c.292-11T>G (n.292-11T>G)
c.293T>G (p.Phe98Cys)
c.398T>G (p.Phe133Cys)
c.479T>G (p.Phe160Cys)
c.833T>G (p.Phe278Cys)
c.317T>G (p.Phe106Cys)
n.518T>G
n.943T>G
n.908T>G
20g.3234256A>GCA408094105SLC4A11c.350T>C (p.Phe117Ser)
c.292-11T>C (n.292-11T>C)
c.293T>C (p.Phe98Ser)
c.398T>C (p.Phe133Ser)
c.479T>C (p.Phe160Ser)
c.833T>C (p.Phe278Ser)
c.317T>C (p.Phe106Ser)
n.518T>C
n.943T>C
n.908T>C
20g.3234256A>TCA408094107SLC4A11c.350T>A (p.Phe117Tyr)
c.292-11T>A (n.292-11T>A)
c.293T>A (p.Phe98Tyr)
c.398T>A (p.Phe133Tyr)
c.479T>A (p.Phe160Tyr)
c.833T>A (p.Phe278Tyr)
c.317T>A (p.Phe106Tyr)
n.518T>A
n.943T>A
n.908T>A
20g.3234257A>CCA408094110SLC4A11c.349T>G (p.Phe117Val)
c.292-12T>G (n.292-12T>G)
c.292T>G (p.Phe98Val)
c.397T>G (p.Phe133Val)
c.478T>G (p.Phe160Val)
c.832T>G (p.Phe278Val)
c.316T>G (p.Phe106Val)
n.517T>G
n.942T>G
n.907T>G
20g.3234257A>GCA408094112SLC4A11c.349T>C (p.Phe117Leu)
c.292-12T>C (n.292-12T>C)
c.292T>C (p.Phe98Leu)
c.397T>C (p.Phe133Leu)
c.478T>C (p.Phe160Leu)
c.832T>C (p.Phe278Leu)
c.316T>C (p.Phe106Leu)
n.517T>C
n.942T>C
n.907T>C
20g.3234257A>TCA408094114SLC4A11c.349T>A (p.Phe117Ile)
c.292-12T>A (n.292-12T>A)
c.292T>A (p.Phe98Ile)
c.397T>A (p.Phe133Ile)
c.478T>A (p.Phe160Ile)
c.832T>A (p.Phe278Ile)
c.316T>A (p.Phe106Ile)
n.517T>A
n.942T>A
n.907T>A
20g.3234258G>ACA509559206SLC4A11c.348C>T (p.Gly116=)
c.292-13C>T (n.292-13C>T)
c.291C>T (p.Gly97=)
c.396C>T (p.Gly132=)
c.477C>T (p.Gly159=)
c.831C>T (p.Gly277=)
c.315C>T (p.Gly105=)
n.516C>T
n.941C>T
n.906C>T
dbSNP gnomAD v4
20g.3234258G>CCA509559207SLC4A11c.348C>G (p.Gly116=)
c.292-13C>G (n.292-13C>G)
c.291C>G (p.Gly97=)
c.396C>G (p.Gly132=)
c.477C>G (p.Gly159=)
c.831C>G (p.Gly277=)
c.315C>G (p.Gly105=)
n.516C>G
n.941C>G
n.906C>G
20g.3234258G=CA2346478024SLC4A11c.348C= (p.Gly116=)
c.292-13C= (n.292-13C=)
c.291C= (p.Gly97=)
c.396C= (p.Gly132=)
c.477C= (p.Gly159=)
c.831C= (p.Gly277=)
c.315C= (p.Gly105=)
n.516C=
n.941C=
n.906C=
20g.3234258G>TCA509559209SLC4A11c.348C>A (p.Gly116=)
c.292-13C>A (n.292-13C>A)
c.291C>A (p.Gly97=)
c.396C>A (p.Gly132=)
c.477C>A (p.Gly159=)
c.831C>A (p.Gly277=)
c.315C>A (p.Gly105=)
n.516C>A
n.941C>A
n.906C>A
20g.3234259C>ACA408094120SLC4A11c.347G>T (p.Gly116Val)
c.292-14G>T (n.292-14G>T)
c.290G>T (p.Gly97Val)
c.395G>T (p.Gly132Val)
c.476G>T (p.Gly159Val)
c.830G>T (p.Gly277Val)
c.314G>T (p.Gly105Val)
n.515G>T
n.940G>T
n.905G>T
20g.3234259C>GCA408094123SLC4A11c.347G>C (p.Gly116Ala)
c.292-14G>C (n.292-14G>C)
c.290G>C (p.Gly97Ala)
c.395G>C (p.Gly132Ala)
c.476G>C (p.Gly159Ala)
c.830G>C (p.Gly277Ala)
c.314G>C (p.Gly105Ala)
n.515G>C
n.940G>C
n.905G>C
20g.3234259C>TCA408094118SLC4A11c.347G>A (p.Gly116Asp)
c.292-14G>A (n.292-14G>A)
c.290G>A (p.Gly97Asp)
c.395G>A (p.Gly132Asp)
c.476G>A (p.Gly159Asp)
c.830G>A (p.Gly277Asp)
c.314G>A (p.Gly105Asp)
n.515G>A
n.940G>A
n.905G>A
20g.3234260C>ACA408094126SLC4A11c.346G>T (p.Gly116Cys)
c.292-15G>T (n.292-15G>T)
c.289G>T (p.Gly97Cys)
c.394G>T (p.Gly132Cys)
c.475G>T (p.Gly159Cys)
c.829G>T (p.Gly277Cys)
c.313G>T (p.Gly105Cys)
n.514G>T
n.939G>T
n.904G>T
20g.3234260C=CA2346478025SLC4A11c.346G= (p.Gly116=)
c.292-15G= (n.292-15G=)
c.289G= (p.Gly97=)
c.394G= (p.Gly132=)
c.475G= (p.Gly159=)
c.829G= (p.Gly277=)
c.313G= (p.Gly105=)
n.514G=
n.939G=
n.904G=
20g.3234260C>GCA408094128SLC4A11c.346G>C (p.Gly116Arg)
c.292-15G>C (n.292-15G>C)
c.289G>C (p.Gly97Arg)
c.394G>C (p.Gly132Arg)
c.475G>C (p.Gly159Arg)
c.829G>C (p.Gly277Arg)
c.313G>C (p.Gly105Arg)
n.514G>C
n.939G>C
n.904G>C
20g.3234260C>TCA9742323SLC4A11c.346G>A (p.Gly116Ser)
c.292-15G>A (n.292-15G>A)
c.289G>A (p.Gly97Ser)
c.394G>A (p.Gly132Ser)
c.475G>A (p.Gly159Ser)
c.829G>A (p.Gly277Ser)
c.313G>A (p.Gly105Ser)
n.514G>A
n.939G>A
n.904G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234261A>CCA408094131SLC4A11c.345T>G (p.Asp115Glu)
c.292-16T>G (n.292-16T>G)
c.288T>G (p.Asp96Glu)
c.393T>G (p.Asp131Glu)
c.474T>G (p.Asp158Glu)
c.828T>G (p.Asp276Glu)
c.312T>G (p.Asp104Glu)
n.513T>G
n.938T>G
n.903T>G
20g.3234261A>GCA509559211SLC4A11c.345T>C (p.Asp115=)
c.292-16T>C (n.292-16T>C)
c.288T>C (p.Asp96=)
c.393T>C (p.Asp131=)
c.474T>C (p.Asp158=)
c.828T>C (p.Asp276=)
c.312T>C (p.Asp104=)
n.513T>C
n.938T>C
n.903T>C
gnomAD v4
20g.3234261A>TCA408094133SLC4A11c.345T>A (p.Asp115Glu)
c.292-16T>A (n.292-16T>A)
c.288T>A (p.Asp96Glu)
c.393T>A (p.Asp131Glu)
c.474T>A (p.Asp158Glu)
c.828T>A (p.Asp276Glu)
c.312T>A (p.Asp104Glu)
n.513T>A
n.938T>A
n.903T>A
20g.3234262T>ACA9742324SLC4A11c.344A>T (p.Asp115Val)
c.292-17A>T (n.292-17A>T)
c.287A>T (p.Asp96Val)
c.392A>T (p.Asp131Val)
c.473A>T (p.Asp158Val)
c.827A>T (p.Asp276Val)
c.311A>T (p.Asp104Val)
n.512A>T
n.937A>T
n.902A>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234262T>CCA408094139SLC4A11c.344A>G (p.Asp115Gly)
c.292-17A>G (n.292-17A>G)
c.287A>G (p.Asp96Gly)
c.392A>G (p.Asp131Gly)
c.473A>G (p.Asp158Gly)
c.827A>G (p.Asp276Gly)
c.311A>G (p.Asp104Gly)
n.512A>G
n.937A>G
n.902A>G
20g.3234262T>GCA408094141SLC4A11c.344A>C (p.Asp115Ala)
c.292-17A>C (n.292-17A>C)
c.287A>C (p.Asp96Ala)
c.392A>C (p.Asp131Ala)
c.473A>C (p.Asp158Ala)
c.827A>C (p.Asp276Ala)
c.311A>C (p.Asp104Ala)
n.512A>C
n.937A>C
n.902A>C
20g.3234262T=CA2346478026SLC4A11c.344A= (p.Asp115=)
c.292-17A= (n.292-17A=)
c.287A= (p.Asp96=)
c.392A= (p.Asp131=)
c.473A= (p.Asp158=)
c.827A= (p.Asp276=)
c.311A= (p.Asp104=)
n.512A=
n.937A=
n.902A=
20g.3234263C>ACA408094143SLC4A11c.343G>T (p.Asp115Tyr)
c.292-18G>T (n.292-18G>T)
c.286G>T (p.Asp96Tyr)
c.391G>T (p.Asp131Tyr)
c.472G>T (p.Asp158Tyr)
c.826G>T (p.Asp276Tyr)
c.310G>T (p.Asp104Tyr)
n.511G>T
n.936G>T
n.901G>T
20g.3234263C>GCA408094145SLC4A11c.343G>C (p.Asp115His)
c.292-18G>C (n.292-18G>C)
c.286G>C (p.Asp96His)
c.391G>C (p.Asp131His)
c.472G>C (p.Asp158His)
c.826G>C (p.Asp276His)
c.310G>C (p.Asp104His)
n.511G>C
n.936G>C
n.901G>C
COSMIC COSMIC
20g.3234263C>TCA408094148SLC4A11c.343G>A (p.Asp115Asn)
c.292-18G>A (n.292-18G>A)
c.286G>A (p.Asp96Asn)
c.391G>A (p.Asp131Asn)
c.472G>A (p.Asp158Asn)
c.826G>A (p.Asp276Asn)
c.310G>A (p.Asp104Asn)
n.511G>A
n.936G>A
n.901G>A
20g.3234264T>ACA509559212SLC4A11c.342A>T (p.Leu114=)
c.292-19A>T (n.292-19A>T)
c.285A>T (p.Leu95=)
c.390A>T (p.Leu130=)
c.471A>T (p.Leu157=)
c.825A>T (p.Leu275=)
c.309A>T (p.Leu103=)
n.510A>T
n.935A>T
n.900A>T
20g.3234264T>CCA509559214SLC4A11c.342A>G (p.Leu114=)
c.292-19A>G (n.292-19A>G)
c.285A>G (p.Leu95=)
c.390A>G (p.Leu130=)
c.471A>G (p.Leu157=)
c.825A>G (p.Leu275=)
c.309A>G (p.Leu103=)
n.510A>G
n.935A>G
n.900A>G
20g.3234264T>GCA509559215SLC4A11c.342A>C (p.Leu114=)
c.292-19A>C (n.292-19A>C)
c.285A>C (p.Leu95=)
c.390A>C (p.Leu130=)
c.471A>C (p.Leu157=)
c.825A>C (p.Leu275=)
c.309A>C (p.Leu103=)
n.510A>C
n.935A>C
n.900A>C
20g.3234265A>CCA408094151SLC4A11c.341T>G (p.Leu114Arg)
c.292-20T>G (n.292-20T>G)
c.284T>G (p.Leu95Arg)
c.389T>G (p.Leu130Arg)
c.470T>G (p.Leu157Arg)
c.824T>G (p.Leu275Arg)
c.308T>G (p.Leu103Arg)
n.509T>G
n.934T>G
n.899T>G
20g.3234265A>GCA408094153SLC4A11c.341T>C (p.Leu114Pro)
c.292-20T>C (n.292-20T>C)
c.284T>C (p.Leu95Pro)
c.389T>C (p.Leu130Pro)
c.470T>C (p.Leu157Pro)
c.824T>C (p.Leu275Pro)
c.308T>C (p.Leu103Pro)
n.509T>C
n.934T>C
n.899T>C
20g.3234265A>TCA408094155SLC4A11c.341T>A (p.Leu114Gln)
c.292-20T>A (n.292-20T>A)
c.284T>A (p.Leu95Gln)
c.389T>A (p.Leu130Gln)
c.470T>A (p.Leu157Gln)
c.824T>A (p.Leu275Gln)
c.308T>A (p.Leu103Gln)
n.509T>A
n.934T>A
n.899T>A
20g.3234266G>ACA509559216SLC4A11c.340C>T (p.Leu114=)
c.292-21C>T (n.292-21C>T)
c.283C>T (p.Leu95=)
c.388C>T (p.Leu130=)
c.469C>T (p.Leu157=)
c.823C>T (p.Leu275=)
c.307C>T (p.Leu103=)
n.508C>T
n.933C>T
n.898C>T
20g.3234266G>CCA408094158SLC4A11c.340C>G (p.Leu114Val)
c.292-21C>G (n.292-21C>G)
c.283C>G (p.Leu95Val)
c.388C>G (p.Leu130Val)
c.469C>G (p.Leu157Val)
c.823C>G (p.Leu275Val)
c.307C>G (p.Leu103Val)
n.508C>G
n.933C>G
n.898C>G
20g.3234266G>TCA408094160SLC4A11c.340C>A (p.Leu114Ile)
c.292-21C>A (n.292-21C>A)
c.283C>A (p.Leu95Ile)
c.388C>A (p.Leu130Ile)
c.469C>A (p.Leu157Ile)
c.823C>A (p.Leu275Ile)
c.307C>A (p.Leu103Ile)
n.508C>A
n.933C>A
n.898C>A
gnomAD v4
20g.3234267G>ACA509559217SLC4A11c.339C>T (p.Asp113=)
c.292-22C>T (n.292-22C>T)
c.282C>T (p.Asp94=)
c.387C>T (p.Asp129=)
c.468C>T (p.Asp156=)
c.822C>T (p.Asp274=)
c.306C>T (p.Asp102=)
n.507C>T
n.932C>T
n.897C>T
20g.3234267G>CCA408094163SLC4A11c.339C>G (p.Asp113Glu)
c.292-22C>G (n.292-22C>G)
c.282C>G (p.Asp94Glu)
c.387C>G (p.Asp129Glu)
c.468C>G (p.Asp156Glu)
c.822C>G (p.Asp274Glu)
c.306C>G (p.Asp102Glu)
n.507C>G
n.932C>G
n.897C>G
20g.3234267G>TCA408094165SLC4A11c.339C>A (p.Asp113Glu)
c.292-22C>A (n.292-22C>A)
c.282C>A (p.Asp94Glu)
c.387C>A (p.Asp129Glu)
c.468C>A (p.Asp156Glu)
c.822C>A (p.Asp274Glu)
c.306C>A (p.Asp102Glu)
n.507C>A
n.932C>A
n.897C>A
20g.3234268T>ACA408094168SLC4A11c.338A>T (p.Asp113Val)
c.292-23A>T (n.292-23A>T)
c.281A>T (p.Asp94Val)
c.386A>T (p.Asp129Val)
c.467A>T (p.Asp156Val)
c.821A>T (p.Asp274Val)
c.305A>T (p.Asp102Val)
n.506A>T
n.931A>T
n.896A>T
20g.3234268T>CCA408094170SLC4A11c.338A>G (p.Asp113Gly)
c.292-23A>G (n.292-23A>G)
c.281A>G (p.Asp94Gly)
c.386A>G (p.Asp129Gly)
c.467A>G (p.Asp156Gly)
c.821A>G (p.Asp274Gly)
c.305A>G (p.Asp102Gly)
n.506A>G
n.931A>G
n.896A>G
gnomAD v4 COSMIC COSMIC
20g.3234268T>GCA408094173SLC4A11c.338A>C (p.Asp113Ala)
c.292-23A>C (n.292-23A>C)
c.281A>C (p.Asp94Ala)
c.386A>C (p.Asp129Ala)
c.467A>C (p.Asp156Ala)
c.821A>C (p.Asp274Ala)
c.305A>C (p.Asp102Ala)
n.506A>C
n.931A>C
n.896A>C
20g.3234269C>ACA408094175SLC4A11c.337G>T (p.Asp113Tyr)
c.292-24G>T (n.292-24G>T)
c.280G>T (p.Asp94Tyr)
c.385G>T (p.Asp129Tyr)
c.466G>T (p.Asp156Tyr)
c.820G>T (p.Asp274Tyr)
c.304G>T (p.Asp102Tyr)
n.505G>T
n.930G>T
n.895G>T
20g.3234269C>GCA408094177SLC4A11c.337G>C (p.Asp113His)
c.292-24G>C (n.292-24G>C)
c.280G>C (p.Asp94His)
c.385G>C (p.Asp129His)
c.466G>C (p.Asp156His)
c.820G>C (p.Asp274His)
c.304G>C (p.Asp102His)
n.505G>C
n.930G>C
n.895G>C
20g.3234269C>TCA408094178SLC4A11c.337G>A (p.Asp113Asn)
c.292-24G>A (n.292-24G>A)
c.280G>A (p.Asp94Asn)
c.385G>A (p.Asp129Asn)
c.466G>A (p.Asp156Asn)
c.820G>A (p.Asp274Asn)
c.304G>A (p.Asp102Asn)
n.505G>A
n.930G>A
n.895G>A
ClinVar gnomAD v4
20g.3234270G>ACA9742325SLC4A11c.336C>T (p.Arg112=)
c.292-25C>T (n.292-25C>T)
c.279C>T (p.Arg93=)
c.384C>T (p.Arg128=)
c.465C>T (p.Arg155=)
c.819C>T (p.Arg273=)
c.303C>T (p.Arg101=)
n.504C>T
n.929C>T
n.894C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234270G>CCA509559219SLC4A11c.336C>G (p.Arg112=)
c.292-25C>G (n.292-25C>G)
c.279C>G (p.Arg93=)
c.384C>G (p.Arg128=)
c.465C>G (p.Arg155=)
c.819C>G (p.Arg273=)
c.303C>G (p.Arg101=)
n.504C>G
n.929C>G
n.894C>G
20g.3234270G=CA2346478027SLC4A11c.336C= (p.Arg112=)
c.292-25C= (n.292-25C=)
c.279C= (p.Arg93=)
c.384C= (p.Arg128=)
c.465C= (p.Arg155=)
c.819C= (p.Arg273=)
c.303C= (p.Arg101=)
n.504C=
n.929C=
n.894C=
20g.3234270G>TCA509559220SLC4A11c.336C>A (p.Arg112=)
c.292-25C>A (n.292-25C>A)
c.279C>A (p.Arg93=)
c.384C>A (p.Arg128=)
c.465C>A (p.Arg155=)
c.819C>A (p.Arg273=)
c.303C>A (p.Arg101=)
n.504C>A
n.929C>A
n.894C>A
20g.3234271C>ACA408094183SLC4A11c.335G>T (p.Arg112Leu)
c.292-26G>T (n.292-26G>T)
c.278G>T (p.Arg93Leu)
c.383G>T (p.Arg128Leu)
c.464G>T (p.Arg155Leu)
c.818G>T (p.Arg273Leu)
c.302G>T (p.Arg101Leu)
n.503G>T
n.928G>T
n.893G>T
20g.3234271C=CA2346478028SLC4A11c.335G= (p.Arg112=)
c.292-26G= (n.292-26G=)
c.278G= (p.Arg93=)
c.383G= (p.Arg128=)
c.464G= (p.Arg155=)
c.818G= (p.Arg273=)
c.302G= (p.Arg101=)
n.503G=
n.928G=
n.893G=
20g.3234271C>GCA408094185SLC4A11c.335G>C (p.Arg112Pro)
c.292-26G>C (n.292-26G>C)
c.278G>C (p.Arg93Pro)
c.383G>C (p.Arg128Pro)
c.464G>C (p.Arg155Pro)
c.818G>C (p.Arg273Pro)
c.302G>C (p.Arg101Pro)
n.503G>C
n.928G>C
n.893G>C
20g.3234271C>TCA9742326SLC4A11c.335G>A (p.Arg112His)
c.292-26G>A (n.292-26G>A)
c.278G>A (p.Arg93His)
c.383G>A (p.Arg128His)
c.464G>A (p.Arg155His)
c.818G>A (p.Arg273His)
c.302G>A (p.Arg101His)
n.503G>A
n.928G>A
n.893G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.3234272G>ACA9742327SLC4A11c.334C>T (p.Arg112Cys)
c.292-27C>T (n.292-27C>T)
c.277C>T (p.Arg93Cys)
c.382C>T (p.Arg128Cys)
c.463C>T (p.Arg155Cys)
c.817C>T (p.Arg273Cys)
c.301C>T (p.Arg101Cys)
n.502C>T
n.927C>T
n.892C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.3234272G>CCA408094193SLC4A11c.334C>G (p.Arg112Gly)
c.292-27C>G (n.292-27C>G)
c.277C>G (p.Arg93Gly)
c.382C>G (p.Arg128Gly)
c.463C>G (p.Arg155Gly)
c.817C>G (p.Arg273Gly)
c.301C>G (p.Arg101Gly)
n.502C>G
n.927C>G
n.892C>G
20g.3234272G=CA2346478029SLC4A11c.334C= (p.Arg112=)
c.292-27C= (n.292-27C=)
c.277C= (p.Arg93=)
c.382C= (p.Arg128=)
c.463C= (p.Arg155=)
c.817C= (p.Arg273=)
c.301C= (p.Arg101=)
n.502C=
n.927C=
n.892C=
20g.3234272G>TCA408094190SLC4A11c.334C>A (p.Arg112Ser)
c.292-27C>A (n.292-27C>A)
c.277C>A (p.Arg93Ser)
c.382C>A (p.Arg128Ser)
c.463C>A (p.Arg155Ser)
c.817C>A (p.Arg273Ser)
c.301C>A (p.Arg101Ser)
n.502C>A
n.927C>A
n.892C>A
20g.3234273G>ACA509559224SLC4A11c.333C>T (p.His111=)
c.292-28C>T (n.292-28C>T)
c.276C>T (p.His92=)
c.381C>T (p.His127=)
c.462C>T (p.His154=)
c.816C>T (p.His272=)
c.300C>T (p.His100=)
n.501C>T
n.926C>T
n.891C>T
gnomAD v4
20g.3234273G>CCA408094197SLC4A11c.333C>G (p.His111Gln)
c.292-28C>G (n.292-28C>G)
c.276C>G (p.His92Gln)
c.381C>G (p.His127Gln)
c.462C>G (p.His154Gln)
c.816C>G (p.His272Gln)
c.300C>G (p.His100Gln)
n.501C>G
n.926C>G
n.891C>G
20g.3234273G>TCA408094199SLC4A11c.333C>A (p.His111Gln)
c.292-28C>A (n.292-28C>A)
c.276C>A (p.His92Gln)
c.381C>A (p.His127Gln)
c.462C>A (p.His154Gln)
c.816C>A (p.His272Gln)
c.300C>A (p.His100Gln)
n.501C>A
n.926C>A
n.891C>A
20g.3234274T>ACA408094203SLC4A11c.332A>T (p.His111Leu)
c.292-29A>T (n.292-29A>T)
c.275A>T (p.His92Leu)
c.380A>T (p.His127Leu)
c.461A>T (p.His154Leu)
c.815A>T (p.His272Leu)
c.299A>T (p.His100Leu)
n.500A>T
n.925A>T
n.890A>T
20g.3234274T>CCA408094205SLC4A11c.332A>G (p.His111Arg)
c.292-29A>G (n.292-29A>G)
c.275A>G (p.His92Arg)
c.380A>G (p.His127Arg)
c.461A>G (p.His154Arg)
c.815A>G (p.His272Arg)
c.299A>G (p.His100Arg)
n.500A>G
n.925A>G
n.890A>G
gnomAD v4
20g.3234274T>GCA408094207SLC4A11c.332A>C (p.His111Pro)
c.292-29A>C (n.292-29A>C)
c.275A>C (p.His92Pro)
c.380A>C (p.His127Pro)
c.461A>C (p.His154Pro)
c.815A>C (p.His272Pro)
c.299A>C (p.His100Pro)
n.500A>C
n.925A>C
n.890A>C
20g.3234275G>ACA408094209SLC4A11c.331C>T (p.His111Tyr)
c.292-30C>T (n.292-30C>T)
c.274C>T (p.His92Tyr)
c.379C>T (p.His127Tyr)
c.460C>T (p.His154Tyr)
c.814C>T (p.His272Tyr)
c.298C>T (p.His100Tyr)
n.499C>T
n.924C>T
n.889C>T
20g.3234275G>CCA408094212SLC4A11c.331C>G (p.His111Asp)
c.292-30C>G (n.292-30C>G)
c.274C>G (p.His92Asp)
c.379C>G (p.His127Asp)
c.460C>G (p.His154Asp)
c.814C>G (p.His272Asp)
c.298C>G (p.His100Asp)
n.499C>G
n.924C>G
n.889C>G
20g.3234275G>TCA408094214SLC4A11c.331C>A (p.His111Asn)
c.292-30C>A (n.292-30C>A)
c.274C>A (p.His92Asn)
c.379C>A (p.His127Asn)
c.460C>A (p.His154Asn)
c.814C>A (p.His272Asn)
c.298C>A (p.His100Asn)
n.499C>A
n.924C>A
n.889C>A
20g.3234276C>ACA9742329SLC4A11c.330G>T (p.Ala110=)
c.292-31G>T (n.292-31G>T)
c.273G>T (p.Ala91=)
c.378G>T (p.Ala126=)
c.459G>T (p.Ala153=)
c.813G>T (p.Ala271=)
c.297G>T (p.Ala99=)
n.498G>T
n.923G>T
n.888G>T
dbSNP ExAC gnomAD v2 gnomAD v4
20g.3234276C=CA2346478030SLC4A11c.330G= (p.Ala110=)
c.292-31G= (n.292-31G=)
c.273G= (p.Ala91=)
c.378G= (p.Ala126=)
c.459G= (p.Ala153=)
c.813G= (p.Ala271=)
c.297G= (p.Ala99=)
n.498G=
n.923G=
n.888G=
20g.3234276C>GCA509559226SLC4A11c.330G>C (p.Ala110=)
c.292-31G>C (n.292-31G>C)
c.273G>C (p.Ala91=)
c.378G>C (p.Ala126=)
c.459G>C (p.Ala153=)
c.813G>C (p.Ala271=)
c.297G>C (p.Ala99=)
n.498G>C
n.923G>C
n.888G>C
ClinVar
20g.3234276C>TCA9742328SLC4A11c.330G>A (p.Ala110=)
c.292-31G>A (n.292-31G>A)
c.273G>A (p.Ala91=)
c.378G>A (p.Ala126=)
c.459G>A (p.Ala153=)
c.813G>A (p.Ala271=)
c.297G>A (p.Ala99=)
n.498G>A
n.923G>A
n.888G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.3234277G>ACA9742330SLC4A11c.329C>T (p.Ala110Val)
c.292-32C>T (n.292-32C>T)
c.272C>T (p.Ala91Val)
c.377C>T (p.Ala126Val)
c.458C>T (p.Ala153Val)
c.812C>T (p.Ala271Val)
c.296C>T (p.Ala99Val)
n.497C>T
n.922C>T
n.887C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3234277G>CCA408094219SLC4A11c.329C>G (p.Ala110Gly)
c.292-32C>G (n.292-32C>G)
c.272C>G (p.Ala91Gly)
c.377C>G (p.Ala126Gly)
c.458C>G (p.Ala153Gly)
c.812C>G (p.Ala271Gly)
c.296C>G (p.Ala99Gly)
n.497C>G
n.922C>G
n.887C>G
20g.3234277G=CA2346478031SLC4A11c.329C= (p.Ala110=)
c.292-32C= (n.292-32C=)
c.272C= (p.Ala91=)
c.377C= (p.Ala126=)
c.458C= (p.Ala153=)
c.812C= (p.Ala271=)
c.296C= (p.Ala99=)
n.497C=
n.922C=
n.887C=
20g.3234277G>TCA408094220SLC4A11c.329C>A (p.Ala110Glu)
c.292-32C>A (n.292-32C>A)
c.272C>A (p.Ala91Glu)
c.377C>A (p.Ala126Glu)
c.458C>A (p.Ala153Glu)
c.812C>A (p.Ala271Glu)
c.296C>A (p.Ala99Glu)
n.497C>A
n.922C>A
n.887C>A
20g.3234278C>ACA408094228SLC4A11c.328G>T (p.Ala110Ser)
c.292-33G>T (n.292-33G>T)
c.271G>T (p.Ala91Ser)
c.*240G>T (n.*240G>T)
c.376G>T (p.Ala126Ser)
c.457G>T (p.Ala153Ser)
c.811G>T (p.Ala271Ser)
c.295G>T (p.Ala99Ser)
n.496G>T
n.921G>T
n.886G>T
20g.3234278C>GCA408094226SLC4A11c.328G>C (p.Ala110Pro)
c.292-33G>C (n.292-33G>C)
c.271G>C (p.Ala91Pro)
c.*240G>C (n.*240G>C)
c.376G>C (p.Ala126Pro)
c.457G>C (p.Ala153Pro)
c.811G>C (p.Ala271Pro)
c.295G>C (p.Ala99Pro)
n.496G>C
n.921G>C
n.886G>C
20g.3234278C>TCA408094224SLC4A11c.328G>A (p.Ala110Thr)
c.292-33G>A (n.292-33G>A)
c.271G>A (p.Ala91Thr)
c.*240G>A (n.*240G>A)
c.376G>A (p.Ala126Thr)
c.457G>A (p.Ala153Thr)
c.811G>A (p.Ala271Thr)
c.295G>A (p.Ala99Thr)
n.496G>A
n.921G>A
n.886G>A
gnomAD v4
20g.3234279A=CA2346478032SLC4A11c.327T= (p.Arg109=)
c.292-34T= (n.292-34T=)
c.270T= (p.Arg90=)
c.*239T= (n.*239T=)
c.375T= (p.Arg125=)
c.456T= (p.Arg152=)
c.810T= (p.Arg270=)
c.294T= (p.Arg98=)
n.495T=
n.920T=
n.885T=
20g.3234279A>CCA509559231SLC4A11c.327T>G (p.Arg109=)
c.292-34T>G (n.292-34T>G)
c.270T>G (p.Arg90=)
c.*239T>G (n.*239T>G)
c.375T>G (p.Arg125=)
c.456T>G (p.Arg152=)
c.810T>G (p.Arg270=)
c.294T>G (p.Arg98=)
n.495T>G
n.920T>G
n.885T>G
20g.3234279A>GCA509559229SLC4A11c.327T>C (p.Arg109=)
c.292-34T>C (n.292-34T>C)
c.270T>C (p.Arg90=)
c.*239T>C (n.*239T>C)
c.375T>C (p.Arg125=)
c.456T>C (p.Arg152=)
c.810T>C (p.Arg270=)
c.294T>C (p.Arg98=)
n.495T>C
n.920T>C
n.885T>C
dbSNP
20g.3234279A>TCA509559230SLC4A11c.327T>A (p.Arg109=)
c.292-34T>A (n.292-34T>A)
c.270T>A (p.Arg90=)
c.*239T>A (n.*239T>A)
c.375T>A (p.Arg125=)
c.456T>A (p.Arg152=)
c.810T>A (p.Arg270=)
c.294T>A (p.Arg98=)
n.495T>A
n.920T>A
n.885T>A
20g.3234280C>ACA408094231SLC4A11c.326G>T (p.Arg109Leu)
c.292-35G>T (n.292-35G>T)
c.269G>T (p.Arg90Leu)
c.*238G>T (n.*238G>T)
c.374G>T (p.Arg125Leu)
c.455G>T (p.Arg152Leu)
c.809G>T (p.Arg270Leu)
c.293G>T (p.Arg98Leu)
n.494G>T
n.919G>T
n.884G>T
20g.3234280C=CA2346478033SLC4A11c.326G= (p.Arg109=)
c.292-35G= (n.292-35G=)
c.269G= (p.Arg90=)
c.*238G= (n.*238G=)
c.374G= (p.Arg125=)
c.455G= (p.Arg152=)
c.809G= (p.Arg270=)
c.293G= (p.Arg98=)
n.494G=
n.919G=
n.884G=
20g.3234280C>GCA408094233SLC4A11c.326G>C (p.Arg109Pro)
c.292-35G>C (n.292-35G>C)
c.269G>C (p.Arg90Pro)
c.*238G>C (n.*238G>C)
c.374G>C (p.Arg125Pro)
c.455G>C (p.Arg152Pro)
c.809G>C (p.Arg270Pro)
c.293G>C (p.Arg98Pro)
n.494G>C
n.919G>C
n.884G>C
20g.3234280C>TCA408094235SLC4A11c.326G>A (p.Arg109His)
c.292-35G>A (n.292-35G>A)
c.269G>A (p.Arg90His)
c.*238G>A (n.*238G>A)
c.374G>A (p.Arg125His)
c.455G>A (p.Arg152His)
c.809G>A (p.Arg270His)
c.293G>A (p.Arg98His)
n.494G>A
n.919G>A
n.884G>A
dbSNP gnomAD v2 gnomAD v4
20g.3234281G>ACA9742331SLC4A11c.325C>T (p.Arg109Cys)
c.292-36C>T (n.292-36C>T)
c.268C>T (p.Arg90Cys)
c.*237C>T (n.*237C>T)
c.373C>T (p.Arg125Cys)
c.454C>T (p.Arg152Cys)
c.808C>T (p.Arg270Cys)
c.292C>T (p.Arg98Cys)
n.493C>T
n.918C>T
n.883C>T
dbSNP ExAC gnomAD v2 gnomAD v4
20g.3234281G>CCA408094239SLC4A11c.325C>G (p.Arg109Gly)
c.292-36C>G (n.292-36C>G)
c.268C>G (p.Arg90Gly)
c.*237C>G (n.*237C>G)
c.373C>G (p.Arg125Gly)
c.454C>G (p.Arg152Gly)
c.808C>G (p.Arg270Gly)
c.292C>G (p.Arg98Gly)
n.493C>G
n.918C>G
n.883C>G
20g.3234281G=CA2346478034SLC4A11c.325C= (p.Arg109=)
c.292-36C= (n.292-36C=)
c.268C= (p.Arg90=)
c.*237C= (n.*237C=)
c.373C= (p.Arg125=)
c.454C= (p.Arg152=)
c.808C= (p.Arg270=)
c.292C= (p.Arg98=)
n.493C=
n.918C=
n.883C=
20g.3234281G>TCA408094240SLC4A11c.325C>A (p.Arg109Ser)
c.292-36C>A (n.292-36C>A)
c.268C>A (p.Arg90Ser)
c.*237C>A (n.*237C>A)
c.373C>A (p.Arg125Ser)
c.454C>A (p.Arg152Ser)
c.808C>A (p.Arg270Ser)
c.292C>A (p.Arg98Ser)
n.493C>A
n.918C>A
n.883C>A
20g.3234282G>ACA509559232SLC4A11c.324C>T (p.Ile108=)
c.292-37C>T (n.292-37C>T)
c.267C>T (p.Ile89=)
c.*236C>T (n.*236C>T)
c.372C>T (p.Ile124=)
c.453C>T (p.Ile151=)
c.807C>T (p.Ile269=)
c.291C>T (p.Ile97=)
n.492C>T
n.917C>T
n.882C>T
dbSNP
20g.3234282G>CCA408094243SLC4A11c.324C>G (p.Ile108Met)
c.292-37C>G (n.292-37C>G)
c.267C>G (p.Ile89Met)
c.*236C>G (n.*236C>G)
c.372C>G (p.Ile124Met)
c.453C>G (p.Ile151Met)
c.807C>G (p.Ile269Met)
c.291C>G (p.Ile97Met)
n.492C>G
n.917C>G
n.882C>G
20g.3234282G=CA2346478035SLC4A11c.324C= (p.Ile108=)
c.292-37C= (n.292-37C=)
c.267C= (p.Ile89=)
c.*236C= (n.*236C=)
c.372C= (p.Ile124=)
c.453C= (p.Ile151=)
c.807C= (p.Ile269=)
c.291C= (p.Ile97=)
n.492C=
n.917C=
n.882C=
20g.3234282G>TCA509559233SLC4A11c.324C>A (p.Ile108=)
c.292-37C>A (n.292-37C>A)
c.267C>A (p.Ile89=)
c.*236C>A (n.*236C>A)
c.372C>A (p.Ile124=)
c.453C>A (p.Ile151=)
c.807C>A (p.Ile269=)
c.291C>A (p.Ile97=)
n.492C>A
n.917C>A
n.882C>A

Number of alleles fetched