Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.3234182_3234189dup | CA2580614987 | SLC4A11 | c.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 |
20 | g.3234182_3234189del | CA358681 | SLC4A11 | c.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 |
20 | g.3234176_3234182del | CA310994490 | SLC4A11 | c.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 |
20 | g.3234178_3234198delinsAAGCGGCGAAGCATGGTCCGC | CA2346477985 | SLC4A11 | c.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 | |
20 | g.3234182_3234201del | CA743609597 | SLC4A11 | c.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 |
20 | g.3234182G>A | CA9742297 | SLC4A11 | c.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 |
20 | g.3234182G>C | CA408093723 | SLC4A11 | c.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 | |
20 | g.3234182G= | CA2346477989 | SLC4A11 | c.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= | |
20 | g.3234182G>T | CA408093725 | SLC4A11 | c.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 | |
20 | g.3234183G>A | CA509559134 | SLC4A11 | c.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 |
20 | g.3234183G>C | CA509559135 | SLC4A11 | c.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 | |
20 | g.3234183G>T | CA509559136 | SLC4A11 | c.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 | |
20 | g.3234183_3234184insTA | CA2504024690 | SLC4A11 | c.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 | |
20 | g.3234184del | CA2538120104 | SLC4A11 | c.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 | |
20 | g.3234184C>A | CA408093729 | SLC4A11 | c.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 | |
20 | g.3234184C= | CA2346477990 | SLC4A11 | c.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= | |
20 | g.3234184C>G | CA408093732 | SLC4A11 | c.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 |
20 | g.3234184C>T | CA9742298 | SLC4A11 | c.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 |
20 | g.3234185G>A | CA9742299 | SLC4A11 | c.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 |
20 | g.3234185G>C | CA408093739 | SLC4A11 | c.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 | |
20 | g.3234185G= | CA2346477991 | SLC4A11 | c.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= | |
20 | g.3234185G>T | CA408093740 | SLC4A11 | c.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 | |
20 | g.3234185_3234186del | CA2559128147 | SLC4A11 | c.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 | |
20 | g.3234186A>C | CA509559137 | SLC4A11 | c.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 | |
20 | g.3234186A>G | CA509559138 | SLC4A11 | c.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 | |
20 | g.3234186A>T | CA509559139 | SLC4A11 | c.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 | |
20 | g.3234186_3234187insC | CA2559977751 | SLC4A11 | c.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 | |
20 | g.3234187A>C | CA408093743 | SLC4A11 | c.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 | |
20 | g.3234187A>G | CA408093745 | SLC4A11 | c.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 | |
20 | g.3234187A>T | CA408093746 | SLC4A11 | c.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 | |
20 | g.3234188G>A | CA408093749 | SLC4A11 | c.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 | |
20 | g.3234188G>C | CA408093751 | SLC4A11 | c.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 |
20 | g.3234188G>T | CA408093753 | SLC4A11 | c.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 |
20 | g.3234188_3234210dup | CA2651691936 | SLC4A11 | c.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 |
20 | g.3234189C>A | CA408093756 | SLC4A11 | c.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 | |
20 | g.3234189C>G | CA408093760 | SLC4A11 | c.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 |
20 | g.3234189C>T | CA408093758 | SLC4A11 | c.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 | |
20 | g.3234190A>C | CA408093763 | SLC4A11 | c.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 | |
20 | g.3234190A>G | CA408093767 | SLC4A11 | c.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 |
20 | g.3234190A>T | CA408093765 | SLC4A11 | c.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 | |
20 | g.3234191T>A | CA408093770 | SLC4A11 | c.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 | |
20 | g.3234191T>C | CA408093772 | SLC4A11 | c.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 |
20 | g.3234191T>G | CA408093774 | SLC4A11 | c.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 | |
20 | g.3234192G>A | CA509559140 | SLC4A11 | c.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 | |
20 | g.3234192G>C | CA509559141 | SLC4A11 | c.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 | |
20 | g.3234192G= | CA2346477992 | SLC4A11 | c.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= | |
20 | g.3234192G>T | CA9742300 | SLC4A11 | c.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 |
20 | g.3234193G>A | CA408093780 | SLC4A11 | c.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 | |
20 | g.3234193G>C | CA9742301 | SLC4A11 | c.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 |
20 | g.3234193G= | CA2346477993 | SLC4A11 | c.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= | |
20 | g.3234193G>T | CA408093784 | SLC4A11 | c.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 | |
20 | g.3234194T>A | CA408093788 | SLC4A11 | c.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 | |
20 | g.3234194T>C | CA408093790 | SLC4A11 | c.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 |
20 | g.3234194T>G | CA408093792 | SLC4A11 | c.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 |
20 | g.3234194T= | CA2346477994 | SLC4A11 | c.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= | |
20 | g.3234195C>A | CA509559142 | SLC4A11 | c.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 | |
20 | g.3234195C>G | CA509559143 | SLC4A11 | c.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 |
20 | g.3234195C>T | CA509559144 | SLC4A11 | c.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 | |
20 | g.3234196C>A | CA408093795 | SLC4A11 | c.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 | |
20 | g.3234196C= | CA2346477995 | SLC4A11 | c.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= | |
20 | g.3234196C>G | CA408093797 | SLC4A11 | c.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 |
20 | g.3234196C>T | CA9742302 | SLC4A11 | c.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 |
20 | g.3234197G>A | CA9742303 | SLC4A11 | c.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 |
20 | g.3234197G>C | CA9742304 | SLC4A11 | c.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 |
20 | g.3234197G= | CA2346477996 | SLC4A11 | c.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= | |
20 | g.3234197G>T | CA509559145 | SLC4A11 | c.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 |
20 | g.3234198C>A | CA509559146 | SLC4A11 | c.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 | |
20 | g.3234198C= | CA2346477997 | SLC4A11 | c.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= | |
20 | g.3234198C>G | CA509559147 | SLC4A11 | c.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 | |
20 | g.3234198C>T | CA509559148 | SLC4A11 | c.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 |
20 | g.3234199A>C | CA408093806 | SLC4A11 | c.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 | |
20 | g.3234199A>G | CA408093807 | SLC4A11 | c.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 |
20 | g.3234199A>T | CA408093810 | SLC4A11 | c.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 | |
20 | g.3234200_3234201insGGAG | CA2651691937 | SLC4A11 | c.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 |
20 | g.3234200G>A | CA9742305 | SLC4A11 | c.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 |
20 | g.3234200G>C | CA408093814 | SLC4A11 | c.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 | |
20 | g.3234200G= | CA2346477998 | SLC4A11 | c.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= | |
20 | g.3234200G>T | CA408093816 | SLC4A11 | c.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 | |
20 | g.3234201C>A | CA310994519 | SLC4A11 | c.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 |
20 | g.3234201C= | CA2346477999 | SLC4A11 | c.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= | |
20 | g.3234201C>G | CA509559149 | SLC4A11 | c.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 |
20 | g.3234201C>T | CA509559150 | SLC4A11 | c.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 |
20 | g.3234202A>C | CA408093820 | SLC4A11 | c.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 | |
20 | g.3234202A>G | CA408093822 | SLC4A11 | c.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 | |
20 | g.3234202A>T | CA408093824 | SLC4A11 | c.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 | |
20 | g.3234202_3234207del | CA2651691938 | SLC4A11 | c.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 |
20 | g.3234203C>A | CA408093826 | SLC4A11 | c.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 | |
20 | g.3234203C= | CA2346478000 | SLC4A11 | c.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= | |
20 | g.3234203C>G | CA408093828 | SLC4A11 | c.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 | |
20 | g.3234203C>T | CA310994522 | SLC4A11 | c.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 |
20 | g.3234204G>A | CA9742306 | SLC4A11 | c.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 |
20 | g.3234204G>C | CA9742307 | SLC4A11 | c.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 |
20 | g.3234204G= | CA2346478001 | SLC4A11 | c.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= | |
20 | g.3234204G>T | CA408093835 | SLC4A11 | c.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 | |
20 | g.3234205T>A | CA408093840 | SLC4A11 | c.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 | |
20 | g.3234205T>C | CA9742308 | SLC4A11 | c.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 |
20 | g.3234205T>G | CA408093843 | SLC4A11 | c.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 | |
20 | g.3234205T= | CA2346478002 | SLC4A11 | c.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= | |
20 | g.3234206T>A | CA408093846 | SLC4A11 | c.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 | |
20 | g.3234206T>C | CA9742309 | SLC4A11 | c.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 |
20 | g.3234206T>G | CA408093850 | SLC4A11 | c.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 | |
20 | g.3234206T= | CA2346478003 | SLC4A11 | c.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= | |
20 | g.3234207A>C | CA408093856 | SLC4A11 | c.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 | |
20 | g.3234207A>G | CA509559151 | SLC4A11 | c.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 | |
20 | g.3234207A>T | CA408093854 | SLC4A11 | c.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 | |
20 | g.3234208T>A | CA408093858 | SLC4A11 | c.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 |
20 | g.3234208T>C | CA408093861 | SLC4A11 | c.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 | |
20 | g.3234208T>G | CA408093864 | SLC4A11 | c.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 | |
20 | g.3234208_3234209insGCGGA | CA2651691939 | SLC4A11 | c.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 |
20 | g.3234209C>A | CA408093867 | SLC4A11 | c.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 |
20 | g.3234209C>G | CA408093869 | SLC4A11 | c.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 | |
20 | g.3234209C>T | CA408093871 | SLC4A11 | c.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 | |
20 | g.3234210C>A | CA509559152 | SLC4A11 | c.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 | |
20 | g.3234210C>G | CA509559153 | SLC4A11 | c.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 | |
20 | g.3234210C>T | CA509559154 | SLC4A11 | c.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 |
20 | g.3234211A>C | CA408093875 | SLC4A11 | c.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 | |
20 | g.3234211A>G | CA408093878 | SLC4A11 | c.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 | |
20 | g.3234211A>T | CA408093877 | SLC4A11 | c.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 | |
20 | g.3234214_3234217del | CA2739277037 | SLC4A11 | c.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 |
20 | g.3234212G>A | CA509559155 | SLC4A11 | c.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 |
20 | g.3234212G>C | CA408093880 | SLC4A11 | c.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 | |
20 | g.3234212G>T | CA408093881 | SLC4A11 | c.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 | |
20 | g.3234213G>A | CA9742310 | SLC4A11 | c.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 |
20 | g.3234213G>C | CA509559156 | SLC4A11 | c.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 |
20 | g.3234213G= | CA2346478004 | SLC4A11 | c.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= | |
20 | g.3234213G>T | CA509559157 | SLC4A11 | c.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 | |
20 | g.3234214G>A | CA408093884 | SLC4A11 | c.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 | |
20 | g.3234214G>C | CA408093886 | SLC4A11 | c.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 | |
20 | g.3234214G>T | CA408093888 | SLC4A11 | c.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 | |
20 | g.3234215A>C | CA408093890 | SLC4A11 | c.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 | |
20 | g.3234215A>G | CA408093892 | SLC4A11 | c.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 | |
20 | g.3234215A>T | CA408093893 | SLC4A11 | c.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 | |
20 | g.3234216G>A | CA9742311 | SLC4A11 | c.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 |
20 | g.3234216G>C | CA509559158 | SLC4A11 | c.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 | |
20 | g.3234216G= | CA2346478005 | SLC4A11 | c.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= | |
20 | g.3234216G>T | CA509559159 | SLC4A11 | c.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 | |
20 | g.3234217G>A | CA408093899 | SLC4A11 | c.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 | |
20 | g.3234217G>C | CA408093904 | SLC4A11 | c.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 | |
20 | g.3234217G>T | CA408093902 | SLC4A11 | c.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 | |
20 | g.3234218T>A | CA408093907 | SLC4A11 | c.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 | |
20 | g.3234218T>C | CA9742312 | SLC4A11 | c.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 |
20 | g.3234218T>G | CA408093909 | SLC4A11 | c.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 | |
20 | g.3234218T= | CA2346478006 | SLC4A11 | c.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= | |
20 | g.3234219G>A | CA509559160 | SLC4A11 | c.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 |
20 | g.3234219G>C | CA509559162 | SLC4A11 | c.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 | |
20 | g.3234219G= | CA2346478007 | SLC4A11 | c.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= | |
20 | g.3234219G>T | CA509559163 | SLC4A11 | c.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 | |
20 | g.3234220G>A | CA408093914 | SLC4A11 | c.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 |
20 | g.3234220G>C | CA408093916 | SLC4A11 | c.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 | |
20 | g.3234220G>T | CA408093919 | SLC4A11 | c.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 | |
20 | g.3234221C>A | CA408093920 | SLC4A11 | c.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 |
20 | g.3234221C>G | CA408093923 | SLC4A11 | c.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 | |
20 | g.3234221C>T | CA408093925 | SLC4A11 | c.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 | |
20 | g.3234222C>A | CA509559164 | SLC4A11 | c.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 | |
20 | g.3234222C= | CA2346478008 | SLC4A11 | c.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= | |
20 | g.3234222C>G | CA509559165 | SLC4A11 | c.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 | |
20 | g.3234222C>T | CA9742313 | SLC4A11 | c.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 |
20 | g.3234223G>A | CA9742314 | SLC4A11 | c.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 |
20 | g.3234223G>C | CA408093930 | SLC4A11 | c.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 | |
20 | g.3234223G= | CA2346478009 | SLC4A11 | c.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= | |
20 | g.3234223G>T | CA408093932 | SLC4A11 | c.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 | |
20 | g.3234224T>A | CA408093940 | SLC4A11 | c.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 | |
20 | g.3234224T>C | CA408093938 | SLC4A11 | c.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 | |
20 | g.3234224T>G | CA408093935 | SLC4A11 | c.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 | |
20 | g.3234225C>A | CA408093943 | SLC4A11 | c.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 | |
20 | g.3234225C>G | CA408093944 | SLC4A11 | c.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 | |
20 | g.3234225C>T | CA509559168 | SLC4A11 | c.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 | |
20 | g.3234226T>A | CA408093947 | SLC4A11 | c.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 | |
20 | g.3234226T>C | CA408093948 | SLC4A11 | c.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 | |
20 | g.3234226T>G | CA408093950 | SLC4A11 | c.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 | |
20 | g.3234227C>A | CA408093953 | SLC4A11 | c.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 |
20 | g.3234227C= | CA2346478010 | SLC4A11 | c.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= | |
20 | g.3234227C>G | CA408093955 | SLC4A11 | c.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 |
20 | g.3234227C>T | CA408093957 | SLC4A11 | c.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 |
20 | g.3234228G>A | CA9742315 | SLC4A11 | c.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 |
20 | g.3234228G>C | CA408093962 | SLC4A11 | c.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 | |
20 | g.3234228G= | CA2346478011 | SLC4A11 | c.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= | |
20 | g.3234228G>T | CA408093964 | SLC4A11 | c.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 | |
20 | g.3234229T>A | CA408093970 | SLC4A11 | c.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 | |
20 | g.3234229T>C | CA408093972 | SLC4A11 | c.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 | |
20 | g.3234229T>G | CA408093969 | SLC4A11 | c.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 | |
20 | g.3234230T>A | CA408093975 | SLC4A11 | c.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 | |
20 | g.3234230T>C | CA408093978 | SLC4A11 | c.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 | |
20 | g.3234230T>G | CA408093980 | SLC4A11 | c.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 | |
20 | g.3234231C>A | CA509559175 | SLC4A11 | c.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 | |
20 | g.3234231C= | CA2346478012 | SLC4A11 | c.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= | |
20 | g.3234231C>G | CA9742316 | SLC4A11 | c.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 |
20 | g.3234231C>T | CA509559172 | SLC4A11 | c.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 | |
20 | g.3234232A>C | CA408093984 | SLC4A11 | c.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 | |
20 | g.3234232A>G | CA408093986 | SLC4A11 | c.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 | |
20 | g.3234232A>T | CA408093989 | SLC4A11 | c.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 | |
20 | g.3234233G>A | CA509559176 | SLC4A11 | c.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 | |
20 | g.3234233G>C | CA408093993 | SLC4A11 | c.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 | |
20 | g.3234233G>T | CA408093995 | SLC4A11 | c.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 | |
20 | g.3234234G>A | CA509559179 | SLC4A11 | c.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 | |
20 | g.3234234G>C | CA509559182 | SLC4A11 | c.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 | |
20 | g.3234234G>T | CA509559181 | SLC4A11 | c.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 | |
20 | g.3234235A>C | CA408093997 | SLC4A11 | c.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 | |
20 | g.3234235A>G | CA408093999 | SLC4A11 | c.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 | |
20 | g.3234235A>T | CA408094001 | SLC4A11 | c.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 | |
20 | g.3234236C>A | CA408094005 | SLC4A11 | c.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 | |
20 | g.3234236C= | CA2346478013 | SLC4A11 | c.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= | |
20 | g.3234236C>G | CA408094007 | SLC4A11 | c.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 |
20 | g.3234236C>T | CA9742317 | SLC4A11 | c.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 |
20 | g.3234237G>A | CA9742318 | SLC4A11 | c.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 |
20 | g.3234237G>C | CA408094011 | SLC4A11 | c.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 | |
20 | g.3234237G= | CA2346478014 | SLC4A11 | c.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= | |
20 | g.3234237G>T | CA509559186 | SLC4A11 | c.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 | |
20 | g.3234238A>C | CA408094012 | SLC4A11 | c.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 | |
20 | g.3234238A>G | CA408094014 | SLC4A11 | c.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 | |
20 | g.3234238A>T | CA408094016 | SLC4A11 | c.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 | |
20 | g.3234239T>A | CA310994540 | SLC4A11 | c.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 |
20 | g.3234239T>C | CA408094020 | SLC4A11 | c.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 |
20 | g.3234239T>G | CA408094021 | SLC4A11 | c.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 | |
20 | g.3234239T= | CA2346478015 | SLC4A11 | c.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= | |
20 | g.3234240G>A | CA509559188 | SLC4A11 | c.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 | |
20 | g.3234240G>C | CA408094024 | SLC4A11 | c.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 | |
20 | g.3234240G>T | CA408094026 | SLC4A11 | c.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 | |
20 | g.3234241C>A | CA408094029 | SLC4A11 | c.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 | |
20 | g.3234241C= | CA2346478016 | SLC4A11 | c.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= | |
20 | g.3234241C>G | CA408094031 | SLC4A11 | c.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 | |
20 | g.3234241C>T | CA310994542 | SLC4A11 | c.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 |
20 | g.3234242T>A | CA408094041 | SLC4A11 | c.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 | |
20 | g.3234242T>C | CA408094039 | SLC4A11 | c.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 | |
20 | g.3234242T>G | CA408094037 | SLC4A11 | c.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 | |
20 | g.3234243G>A | CA509559192 | SLC4A11 | c.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 |
20 | g.3234243G>C | CA310994544 | SLC4A11 | c.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 |
20 | g.3234243G= | CA2346478017 | SLC4A11 | c.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= | |
20 | g.3234243G>T | CA509559193 | SLC4A11 | c.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 | |
20 | g.3234244G>A | CA408094045 | SLC4A11 | c.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 | |
20 | g.3234244G>C | CA408094048 | SLC4A11 | c.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 | |
20 | g.3234244G= | CA2346478018 | SLC4A11 | c.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= | |
20 | g.3234244G>T | CA408094046 | SLC4A11 | c.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 |
20 | g.3234245C>A | CA9742319 | SLC4A11 | c.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 |
20 | g.3234245C= | CA2346478019 | SLC4A11 | c.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= | |
20 | g.3234245C>G | CA408094053 | SLC4A11 | c.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 | |
20 | g.3234245C>T | CA408094051 | SLC4A11 | c.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 | |
20 | g.3234246C>A | CA408094055 | SLC4A11 | c.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 | |
20 | g.3234246C>G | CA408094057 | SLC4A11 | c.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 | |
20 | g.3234246C>T | CA509559195 | SLC4A11 | c.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 | |
20 | g.3234247T>A | CA408094058 | SLC4A11 | c.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 | |
20 | g.3234247T>C | CA408094061 | SLC4A11 | c.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 |
20 | g.3234247T>G | CA408094059 | SLC4A11 | c.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 | |
20 | g.3234247T= | CA2346478020 | SLC4A11 | c.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= | |
20 | g.3234248G>A | CA408094064 | SLC4A11 | c.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 | |
20 | g.3234248G>C | CA408094066 | SLC4A11 | c.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 | |
20 | g.3234248G>T | CA408094068 | SLC4A11 | c.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 | |
20 | g.3234249C>A | CA509559196 | SLC4A11 | c.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 |
20 | g.3234249C= | CA2346478021 | SLC4A11 | c.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= | |
20 | g.3234249C>G | CA509559197 | SLC4A11 | c.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 |
20 | g.3234249C>T | CA9742320 | SLC4A11 | c.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 |
20 | g.3234250G>A | CA9742321 | SLC4A11 | c.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 |
20 | g.3234250G>C | CA408094072 | SLC4A11 | c.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 | |
20 | g.3234250G= | CA2346478022 | SLC4A11 | c.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= | |
20 | g.3234250G>T | CA408094074 | SLC4A11 | c.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 |
20 | g.3234251C>A | CA408094078 | SLC4A11 | c.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 | |
20 | g.3234251C>G | CA408094080 | SLC4A11 | c.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 | |
20 | g.3234251C>T | CA408094083 | SLC4A11 | c.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 |
20 | g.3234252C>A | CA509559199 | SLC4A11 | c.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 | |
20 | g.3234252C>G | CA509559203 | SLC4A11 | c.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 | |
20 | g.3234252C>T | CA509559201 | SLC4A11 | c.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 | |
20 | g.3234253A>C | CA408094090 | SLC4A11 | c.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 | |
20 | g.3234253A>G | CA408094088 | SLC4A11 | c.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 | |
20 | g.3234253A>T | CA408094086 | SLC4A11 | c.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 | |
20 | g.3234254G>A | CA509559205 | SLC4A11 | c.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 | |
20 | g.3234254G>C | CA408094093 | SLC4A11 | c.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 | |
20 | g.3234254G>T | CA408094095 | SLC4A11 | c.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 | |
20 | g.3234255G>A | CA9742322 | SLC4A11 | c.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 |
20 | g.3234255G>C | CA408094098 | SLC4A11 | c.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 | |
20 | g.3234255G= | CA2346478023 | SLC4A11 | c.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= | |
20 | g.3234255G>T | CA408094100 | SLC4A11 | c.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 | |
20 | g.3234256A>C | CA408094103 | SLC4A11 | c.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 | |
20 | g.3234256A>G | CA408094105 | SLC4A11 | c.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 | |
20 | g.3234256A>T | CA408094107 | SLC4A11 | c.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 | |
20 | g.3234257A>C | CA408094110 | SLC4A11 | c.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 | |
20 | g.3234257A>G | CA408094112 | SLC4A11 | c.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 | |
20 | g.3234257A>T | CA408094114 | SLC4A11 | c.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 | |
20 | g.3234258G>A | CA509559206 | SLC4A11 | c.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 |
20 | g.3234258G>C | CA509559207 | SLC4A11 | c.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 | |
20 | g.3234258G= | CA2346478024 | SLC4A11 | c.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= | |
20 | g.3234258G>T | CA509559209 | SLC4A11 | c.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 | |
20 | g.3234259C>A | CA408094120 | SLC4A11 | c.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 | |
20 | g.3234259C>G | CA408094123 | SLC4A11 | c.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 | |
20 | g.3234259C>T | CA408094118 | SLC4A11 | c.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 | |
20 | g.3234260C>A | CA408094126 | SLC4A11 | c.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 | |
20 | g.3234260C= | CA2346478025 | SLC4A11 | c.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= | |
20 | g.3234260C>G | CA408094128 | SLC4A11 | c.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 | |
20 | g.3234260C>T | CA9742323 | SLC4A11 | c.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 |
20 | g.3234261A>C | CA408094131 | SLC4A11 | c.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 | |
20 | g.3234261A>G | CA509559211 | SLC4A11 | c.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 |
20 | g.3234261A>T | CA408094133 | SLC4A11 | c.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 | |
20 | g.3234262T>A | CA9742324 | SLC4A11 | c.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 |
20 | g.3234262T>C | CA408094139 | SLC4A11 | c.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 | |
20 | g.3234262T>G | CA408094141 | SLC4A11 | c.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 | |
20 | g.3234262T= | CA2346478026 | SLC4A11 | c.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= | |
20 | g.3234263C>A | CA408094143 | SLC4A11 | c.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 | |
20 | g.3234263C>G | CA408094145 | SLC4A11 | c.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 |
20 | g.3234263C>T | CA408094148 | SLC4A11 | c.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 | |
20 | g.3234264T>A | CA509559212 | SLC4A11 | c.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 | |
20 | g.3234264T>C | CA509559214 | SLC4A11 | c.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 | |
20 | g.3234264T>G | CA509559215 | SLC4A11 | c.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 | |
20 | g.3234265A>C | CA408094151 | SLC4A11 | c.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 | |
20 | g.3234265A>G | CA408094153 | SLC4A11 | c.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 | |
20 | g.3234265A>T | CA408094155 | SLC4A11 | c.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 | |
20 | g.3234266G>A | CA509559216 | SLC4A11 | c.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 | |
20 | g.3234266G>C | CA408094158 | SLC4A11 | c.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 | |
20 | g.3234266G>T | CA408094160 | SLC4A11 | c.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 |
20 | g.3234267G>A | CA509559217 | SLC4A11 | c.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 | |
20 | g.3234267G>C | CA408094163 | SLC4A11 | c.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 | |
20 | g.3234267G>T | CA408094165 | SLC4A11 | c.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 | |
20 | g.3234268T>A | CA408094168 | SLC4A11 | c.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 | |
20 | g.3234268T>C | CA408094170 | SLC4A11 | c.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 |
20 | g.3234268T>G | CA408094173 | SLC4A11 | c.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 | |
20 | g.3234269C>A | CA408094175 | SLC4A11 | c.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 | |
20 | g.3234269C>G | CA408094177 | SLC4A11 | c.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 | |
20 | g.3234269C>T | CA408094178 | SLC4A11 | c.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 |
20 | g.3234270G>A | CA9742325 | SLC4A11 | c.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 |
20 | g.3234270G>C | CA509559219 | SLC4A11 | c.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 | |
20 | g.3234270G= | CA2346478027 | SLC4A11 | c.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= | |
20 | g.3234270G>T | CA509559220 | SLC4A11 | c.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 | |
20 | g.3234271C>A | CA408094183 | SLC4A11 | c.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 | |
20 | g.3234271C= | CA2346478028 | SLC4A11 | c.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= | |
20 | g.3234271C>G | CA408094185 | SLC4A11 | c.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 | |
20 | g.3234271C>T | CA9742326 | SLC4A11 | c.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 |
20 | g.3234272G>A | CA9742327 | SLC4A11 | c.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 |
20 | g.3234272G>C | CA408094193 | SLC4A11 | c.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 | |
20 | g.3234272G= | CA2346478029 | SLC4A11 | c.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= | |
20 | g.3234272G>T | CA408094190 | SLC4A11 | c.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 | |
20 | g.3234273G>A | CA509559224 | SLC4A11 | c.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 |
20 | g.3234273G>C | CA408094197 | SLC4A11 | c.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 | |
20 | g.3234273G>T | CA408094199 | SLC4A11 | c.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 | |
20 | g.3234274T>A | CA408094203 | SLC4A11 | c.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 | |
20 | g.3234274T>C | CA408094205 | SLC4A11 | c.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 |
20 | g.3234274T>G | CA408094207 | SLC4A11 | c.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 | |
20 | g.3234275G>A | CA408094209 | SLC4A11 | c.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 | |
20 | g.3234275G>C | CA408094212 | SLC4A11 | c.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 | |
20 | g.3234275G>T | CA408094214 | SLC4A11 | c.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 | |
20 | g.3234276C>A | CA9742329 | SLC4A11 | c.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 |
20 | g.3234276C= | CA2346478030 | SLC4A11 | c.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= | |
20 | g.3234276C>G | CA509559226 | SLC4A11 | c.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 |
20 | g.3234276C>T | CA9742328 | SLC4A11 | c.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 |
20 | g.3234277G>A | CA9742330 | SLC4A11 | c.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 |
20 | g.3234277G>C | CA408094219 | SLC4A11 | c.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 | |
20 | g.3234277G= | CA2346478031 | SLC4A11 | c.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= | |
20 | g.3234277G>T | CA408094220 | SLC4A11 | c.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 | |
20 | g.3234278C>A | CA408094228 | SLC4A11 | c.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 | |
20 | g.3234278C>G | CA408094226 | SLC4A11 | c.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 | |
20 | g.3234278C>T | CA408094224 | SLC4A11 | c.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 |
20 | g.3234279A= | CA2346478032 | SLC4A11 | c.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= | |
20 | g.3234279A>C | CA509559231 | SLC4A11 | c.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 | |
20 | g.3234279A>G | CA509559229 | SLC4A11 | c.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 |
20 | g.3234279A>T | CA509559230 | SLC4A11 | c.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 | |
20 | g.3234280C>A | CA408094231 | SLC4A11 | c.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 | |
20 | g.3234280C= | CA2346478033 | SLC4A11 | c.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= | |
20 | g.3234280C>G | CA408094233 | SLC4A11 | c.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 | |
20 | g.3234280C>T | CA408094235 | SLC4A11 | c.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 |
20 | g.3234281G>A | CA9742331 | SLC4A11 | c.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 |
20 | g.3234281G>C | CA408094239 | SLC4A11 | c.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 | |
20 | g.3234281G= | CA2346478034 | SLC4A11 | c.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= | |
20 | g.3234281G>T | CA408094240 | SLC4A11 | c.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 | |
20 | g.3234282G>A | CA509559232 | SLC4A11 | c.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 |
20 | g.3234282G>C | CA408094243 | SLC4A11 | c.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 | |
20 | g.3234282G= | CA2346478035 | SLC4A11 | c.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= | |
20 | g.3234282G>T | CA509559233 | SLC4A11 | c.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 |