Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.3228821G>TCA2573156896SLC4A11c.2192+17C>A (n.2192+17C>A)
c.2123+17C>A (n.2123+17C>A)
c.2063+17C>A (n.2063+17C>A)
c.2078+17C>A (n.2078+17C>A)
c.2240+17C>A (n.2240+17C>A)
c.2321+17C>A (n.2321+17C>A)
c.*340+17C>A (n.*340+17C>A)
c.2561+17C>A (n.2561+17C>A)
c.2135+17C>A (n.2135+17C>A)
c.2159+17C>A (n.2159+17C>A)
n.2290+17C>A
c.2555+17C>A (n.2555+17C>A)
n.2735+17C>A
n.2715+17C>A
c.2207+17C>A (n.2207+17C>A)
n.2700+17C>A
 ClinVar dbSNP gnomAD v4
20g.3228822C>TCA2651691258SLC4A11c.2192+16G>A (n.2192+16G>A)
c.2123+16G>A (n.2123+16G>A)
c.2063+16G>A (n.2063+16G>A)
c.2078+16G>A (n.2078+16G>A)
c.2240+16G>A (n.2240+16G>A)
c.2321+16G>A (n.2321+16G>A)
c.*340+16G>A (n.*340+16G>A)
c.2561+16G>A (n.2561+16G>A)
c.2135+16G>A (n.2135+16G>A)
c.2159+16G>A (n.2159+16G>A)
n.2290+16G>A
c.2555+16G>A (n.2555+16G>A)
n.2735+16G>A
n.2715+16G>A
c.2207+16G>A (n.2207+16G>A)
n.2700+16G>A
 gnomAD v4
20g.3228823C>ACA9741555SLC4A11c.2192+15G>T (n.2192+15G>T)
c.2123+15G>T (n.2123+15G>T)
c.2063+15G>T (n.2063+15G>T)
c.2078+15G>T (n.2078+15G>T)
c.2240+15G>T (n.2240+15G>T)
c.2321+15G>T (n.2321+15G>T)
c.*340+15G>T (n.*340+15G>T)
c.2561+15G>T (n.2561+15G>T)
c.2135+15G>T (n.2135+15G>T)
c.2159+15G>T (n.2159+15G>T)
n.2290+15G>T
c.2555+15G>T (n.2555+15G>T)
n.2735+15G>T
n.2715+15G>T
c.2207+15G>T (n.2207+15G>T)
n.2700+15G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228823C=CA2346475184SLC4A11c.2192+15G= (n.2192+15G=)
c.2123+15G= (n.2123+15G=)
c.2063+15G= (n.2063+15G=)
c.2078+15G= (n.2078+15G=)
c.2240+15G= (n.2240+15G=)
c.2321+15G= (n.2321+15G=)
c.*340+15G= (n.*340+15G=)
c.2561+15G= (n.2561+15G=)
c.2135+15G= (n.2135+15G=)
c.2159+15G= (n.2159+15G=)
n.2290+15G=
c.2555+15G= (n.2555+15G=)
n.2735+15G=
n.2715+15G=
c.2207+15G= (n.2207+15G=)
n.2700+15G=
20g.3228824A=CA2346475185SLC4A11c.2192+14T= (n.2192+14T=)
c.2123+14T= (n.2123+14T=)
c.2063+14T= (n.2063+14T=)
c.2078+14T= (n.2078+14T=)
c.2240+14T= (n.2240+14T=)
c.2321+14T= (n.2321+14T=)
c.*340+14T= (n.*340+14T=)
c.2561+14T= (n.2561+14T=)
c.2135+14T= (n.2135+14T=)
c.2159+14T= (n.2159+14T=)
n.2290+14T=
c.2555+14T= (n.2555+14T=)
n.2735+14T=
n.2715+14T=
c.2207+14T= (n.2207+14T=)
n.2700+14T=
20g.3228824A>GCA2346475186SLC4A11c.2192+14T>C (n.2192+14T>C)
c.2123+14T>C (n.2123+14T>C)
c.2063+14T>C (n.2063+14T>C)
c.2078+14T>C (n.2078+14T>C)
c.2240+14T>C (n.2240+14T>C)
c.2321+14T>C (n.2321+14T>C)
c.*340+14T>C (n.*340+14T>C)
c.2561+14T>C (n.2561+14T>C)
c.2135+14T>C (n.2135+14T>C)
c.2159+14T>C (n.2159+14T>C)
n.2290+14T>C
c.2555+14T>C (n.2555+14T>C)
n.2735+14T>C
n.2715+14T>C
c.2207+14T>C (n.2207+14T>C)
n.2700+14T>C
 dbSNP
20g.3228826C>ACA9741556SLC4A11c.2192+12G>T (n.2192+12G>T)
c.2123+12G>T (n.2123+12G>T)
c.2063+12G>T (n.2063+12G>T)
c.2078+12G>T (n.2078+12G>T)
c.2240+12G>T (n.2240+12G>T)
c.2321+12G>T (n.2321+12G>T)
c.*340+12G>T (n.*340+12G>T)
c.2561+12G>T (n.2561+12G>T)
c.2135+12G>T (n.2135+12G>T)
c.2159+12G>T (n.2159+12G>T)
n.2290+12G>T
c.2555+12G>T (n.2555+12G>T)
n.2735+12G>T
n.2715+12G>T
c.2207+12G>T (n.2207+12G>T)
n.2700+12G>T
 dbSNP ExAC gnomAD v2
20g.3228826C=CA2346475187SLC4A11c.2192+12G= (n.2192+12G=)
c.2123+12G= (n.2123+12G=)
c.2063+12G= (n.2063+12G=)
c.2078+12G= (n.2078+12G=)
c.2240+12G= (n.2240+12G=)
c.2321+12G= (n.2321+12G=)
c.*340+12G= (n.*340+12G=)
c.2561+12G= (n.2561+12G=)
c.2135+12G= (n.2135+12G=)
c.2159+12G= (n.2159+12G=)
n.2290+12G=
c.2555+12G= (n.2555+12G=)
n.2735+12G=
n.2715+12G=
c.2207+12G= (n.2207+12G=)
n.2700+12G=
20g.3228826C>TCA2577323918SLC4A11c.2192+12G>A (n.2192+12G>A)
c.2123+12G>A (n.2123+12G>A)
c.2063+12G>A (n.2063+12G>A)
c.2078+12G>A (n.2078+12G>A)
c.2240+12G>A (n.2240+12G>A)
c.2321+12G>A (n.2321+12G>A)
c.*340+12G>A (n.*340+12G>A)
c.2561+12G>A (n.2561+12G>A)
c.2135+12G>A (n.2135+12G>A)
c.2159+12G>A (n.2159+12G>A)
n.2290+12G>A
c.2555+12G>A (n.2555+12G>A)
n.2735+12G>A
n.2715+12G>A
c.2207+12G>A (n.2207+12G>A)
n.2700+12G>A
 gnomAD v4
20g.3228827C>TCA2651691259SLC4A11c.2192+11G>A (n.2192+11G>A)
c.2123+11G>A (n.2123+11G>A)
c.2063+11G>A (n.2063+11G>A)
c.2078+11G>A (n.2078+11G>A)
c.2240+11G>A (n.2240+11G>A)
c.2321+11G>A (n.2321+11G>A)
c.*340+11G>A (n.*340+11G>A)
c.2561+11G>A (n.2561+11G>A)
c.2135+11G>A (n.2135+11G>A)
c.2159+11G>A (n.2159+11G>A)
n.2290+11G>A
c.2555+11G>A (n.2555+11G>A)
n.2735+11G>A
n.2715+11G>A
c.2207+11G>A (n.2207+11G>A)
n.2700+11G>A
 ClinVar gnomAD v4
20g.3228828T>GCA9741557SLC4A11c.2192+10A>C (n.2192+10A>C)
c.2123+10A>C (n.2123+10A>C)
c.2063+10A>C (n.2063+10A>C)
c.2078+10A>C (n.2078+10A>C)
c.2240+10A>C (n.2240+10A>C)
c.2321+10A>C (n.2321+10A>C)
c.*340+10A>C (n.*340+10A>C)
c.2561+10A>C (n.2561+10A>C)
c.2135+10A>C (n.2135+10A>C)
c.2159+10A>C (n.2159+10A>C)
n.2290+10A>C
c.2555+10A>C (n.2555+10A>C)
n.2735+10A>C
n.2715+10A>C
c.2207+10A>C (n.2207+10A>C)
n.2700+10A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228828T=CA2346475188SLC4A11c.2192+10A= (n.2192+10A=)
c.2123+10A= (n.2123+10A=)
c.2063+10A= (n.2063+10A=)
c.2078+10A= (n.2078+10A=)
c.2240+10A= (n.2240+10A=)
c.2321+10A= (n.2321+10A=)
c.*340+10A= (n.*340+10A=)
c.2561+10A= (n.2561+10A=)
c.2135+10A= (n.2135+10A=)
c.2159+10A= (n.2159+10A=)
n.2290+10A=
c.2555+10A= (n.2555+10A=)
n.2735+10A=
n.2715+10A=
c.2207+10A= (n.2207+10A=)
n.2700+10A=
20g.3228829C>ACA9741558SLC4A11c.2192+9G>T (n.2192+9G>T)
c.2123+9G>T (n.2123+9G>T)
c.2063+9G>T (n.2063+9G>T)
c.2078+9G>T (n.2078+9G>T)
c.2240+9G>T (n.2240+9G>T)
c.2321+9G>T (n.2321+9G>T)
c.*340+9G>T (n.*340+9G>T)
c.2561+9G>T (n.2561+9G>T)
c.2135+9G>T (n.2135+9G>T)
c.2159+9G>T (n.2159+9G>T)
n.2290+9G>T
c.2555+9G>T (n.2555+9G>T)
n.2735+9G>T
n.2715+9G>T
c.2207+9G>T (n.2207+9G>T)
n.2700+9G>T
 ClinVar dbSNP ExAC gnomAD v2
20g.3228829C=CA2346475190SLC4A11c.2192+9G= (n.2192+9G=)
c.2123+9G= (n.2123+9G=)
c.2063+9G= (n.2063+9G=)
c.2078+9G= (n.2078+9G=)
c.2240+9G= (n.2240+9G=)
c.2321+9G= (n.2321+9G=)
c.*340+9G= (n.*340+9G=)
c.2561+9G= (n.2561+9G=)
c.2135+9G= (n.2135+9G=)
c.2159+9G= (n.2159+9G=)
n.2290+9G=
c.2555+9G= (n.2555+9G=)
n.2735+9G=
n.2715+9G=
c.2207+9G= (n.2207+9G=)
n.2700+9G=
20g.3228829C>GCA2346475189SLC4A11c.2192+9G>C (n.2192+9G>C)
c.2123+9G>C (n.2123+9G>C)
c.2063+9G>C (n.2063+9G>C)
c.2078+9G>C (n.2078+9G>C)
c.2240+9G>C (n.2240+9G>C)
c.2321+9G>C (n.2321+9G>C)
c.*340+9G>C (n.*340+9G>C)
c.2561+9G>C (n.2561+9G>C)
c.2135+9G>C (n.2135+9G>C)
c.2159+9G>C (n.2159+9G>C)
n.2290+9G>C
c.2555+9G>C (n.2555+9G>C)
n.2735+9G>C
n.2715+9G>C
c.2207+9G>C (n.2207+9G>C)
n.2700+9G>C
 ClinVar dbSNP gnomAD v4
20g.3228830A>GCA2651691260SLC4A11c.2192+8T>C (n.2192+8T>C)
c.2123+8T>C (n.2123+8T>C)
c.2063+8T>C (n.2063+8T>C)
c.2078+8T>C (n.2078+8T>C)
c.2240+8T>C (n.2240+8T>C)
c.2321+8T>C (n.2321+8T>C)
c.*340+8T>C (n.*340+8T>C)
c.2561+8T>C (n.2561+8T>C)
c.2135+8T>C (n.2135+8T>C)
c.2159+8T>C (n.2159+8T>C)
n.2290+8T>C
c.2555+8T>C (n.2555+8T>C)
n.2735+8T>C
n.2715+8T>C
c.2207+8T>C (n.2207+8T>C)
n.2700+8T>C
 gnomAD v4
20g.3228831C>ACA9741559SLC4A11c.2192+7G>T (n.2192+7G>T)
c.2123+7G>T (n.2123+7G>T)
c.2063+7G>T (n.2063+7G>T)
c.2078+7G>T (n.2078+7G>T)
c.2240+7G>T (n.2240+7G>T)
c.2321+7G>T (n.2321+7G>T)
c.*340+7G>T (n.*340+7G>T)
c.2561+7G>T (n.2561+7G>T)
c.2135+7G>T (n.2135+7G>T)
c.2159+7G>T (n.2159+7G>T)
n.2290+7G>T
c.2555+7G>T (n.2555+7G>T)
n.2735+7G>T
n.2715+7G>T
c.2207+7G>T (n.2207+7G>T)
n.2700+7G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228831C=CA2346475191SLC4A11c.2192+7G= (n.2192+7G=)
c.2123+7G= (n.2123+7G=)
c.2063+7G= (n.2063+7G=)
c.2078+7G= (n.2078+7G=)
c.2240+7G= (n.2240+7G=)
c.2321+7G= (n.2321+7G=)
c.*340+7G= (n.*340+7G=)
c.2561+7G= (n.2561+7G=)
c.2135+7G= (n.2135+7G=)
c.2159+7G= (n.2159+7G=)
n.2290+7G=
c.2555+7G= (n.2555+7G=)
n.2735+7G=
n.2715+7G=
c.2207+7G= (n.2207+7G=)
n.2700+7G=
20g.3228831C>TCA2651691261SLC4A11c.2192+7G>A (n.2192+7G>A)
c.2123+7G>A (n.2123+7G>A)
c.2063+7G>A (n.2063+7G>A)
c.2078+7G>A (n.2078+7G>A)
c.2240+7G>A (n.2240+7G>A)
c.2321+7G>A (n.2321+7G>A)
c.*340+7G>A (n.*340+7G>A)
c.2561+7G>A (n.2561+7G>A)
c.2135+7G>A (n.2135+7G>A)
c.2159+7G>A (n.2159+7G>A)
n.2290+7G>A
c.2555+7G>A (n.2555+7G>A)
n.2735+7G>A
n.2715+7G>A
c.2207+7G>A (n.2207+7G>A)
n.2700+7G>A
 gnomAD v4
20g.3228832A>GCA2651691262SLC4A11c.2192+6T>C (n.2192+6T>C)
c.2123+6T>C (n.2123+6T>C)
c.2063+6T>C (n.2063+6T>C)
c.2078+6T>C (n.2078+6T>C)
c.2240+6T>C (n.2240+6T>C)
c.2321+6T>C (n.2321+6T>C)
c.*340+6T>C (n.*340+6T>C)
c.2561+6T>C (n.2561+6T>C)
c.2135+6T>C (n.2135+6T>C)
c.2159+6T>C (n.2159+6T>C)
n.2290+6T>C
c.2555+6T>C (n.2555+6T>C)
n.2735+6T>C
n.2715+6T>C
c.2207+6T>C (n.2207+6T>C)
n.2700+6T>C
 gnomAD v4
20g.3228833C=CA2346475192SLC4A11c.2192+5G= (n.2192+5G=)
c.2123+5G= (n.2123+5G=)
c.2063+5G= (n.2063+5G=)
c.2078+5G= (n.2078+5G=)
c.2240+5G= (n.2240+5G=)
c.2321+5G= (n.2321+5G=)
c.*340+5G= (n.*340+5G=)
c.2561+5G= (n.2561+5G=)
c.2135+5G= (n.2135+5G=)
c.2159+5G= (n.2159+5G=)
n.2290+5G=
c.2555+5G= (n.2555+5G=)
n.2735+5G=
n.2715+5G=
c.2207+5G= (n.2207+5G=)
n.2700+5G=
20g.3228833C>TCA743603899SLC4A11c.2192+5G>A (n.2192+5G>A)
c.2123+5G>A (n.2123+5G>A)
c.2063+5G>A (n.2063+5G>A)
c.2078+5G>A (n.2078+5G>A)
c.2240+5G>A (n.2240+5G>A)
c.2321+5G>A (n.2321+5G>A)
c.*340+5G>A (n.*340+5G>A)
c.2561+5G>A (n.2561+5G>A)
c.2135+5G>A (n.2135+5G>A)
c.2159+5G>A (n.2159+5G>A)
n.2290+5G>A
c.2555+5G>A (n.2555+5G>A)
n.2735+5G>A
n.2715+5G>A
c.2207+5G>A (n.2207+5G>A)
n.2700+5G>A
 dbSNP gnomAD v3 gnomAD v4
20g.3228834T>GCA9741560SLC4A11c.2192+4A>C (n.2192+4A>C)
c.2123+4A>C (n.2123+4A>C)
c.2063+4A>C (n.2063+4A>C)
c.2078+4A>C (n.2078+4A>C)
c.2240+4A>C (n.2240+4A>C)
c.2321+4A>C (n.2321+4A>C)
c.*340+4A>C (n.*340+4A>C)
c.2561+4A>C (n.2561+4A>C)
c.2135+4A>C (n.2135+4A>C)
c.2159+4A>C (n.2159+4A>C)
n.2290+4A>C
c.2555+4A>C (n.2555+4A>C)
n.2735+4A>C
n.2715+4A>C
c.2207+4A>C (n.2207+4A>C)
n.2700+4A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228834T=CA2346475193SLC4A11c.2192+4A= (n.2192+4A=)
c.2123+4A= (n.2123+4A=)
c.2063+4A= (n.2063+4A=)
c.2078+4A= (n.2078+4A=)
c.2240+4A= (n.2240+4A=)
c.2321+4A= (n.2321+4A=)
c.*340+4A= (n.*340+4A=)
c.2561+4A= (n.2561+4A=)
c.2135+4A= (n.2135+4A=)
c.2159+4A= (n.2159+4A=)
n.2290+4A=
c.2555+4A= (n.2555+4A=)
n.2735+4A=
n.2715+4A=
c.2207+4A= (n.2207+4A=)
n.2700+4A=
20g.3228836A>CCA408086622SLC4A11c.2192+2T>G (n.2192+2T>G)
c.2123+2T>G (n.2123+2T>G)
c.2063+2T>G (n.2063+2T>G)
c.2078+2T>G (n.2078+2T>G)
c.2240+2T>G (n.2240+2T>G)
c.2321+2T>G (n.2321+2T>G)
c.*340+2T>G (n.*340+2T>G)
c.2561+2T>G (n.2561+2T>G)
c.2135+2T>G (n.2135+2T>G)
c.2159+2T>G (n.2159+2T>G)
n.2290+2T>G
c.2555+2T>G (n.2555+2T>G)
n.2735+2T>G
n.2715+2T>G
c.2207+2T>G (n.2207+2T>G)
n.2700+2T>G
20g.3228836A>GCA408086624SLC4A11c.2192+2T>C (n.2192+2T>C)
c.2123+2T>C (n.2123+2T>C)
c.2063+2T>C (n.2063+2T>C)
c.2078+2T>C (n.2078+2T>C)
c.2240+2T>C (n.2240+2T>C)
c.2321+2T>C (n.2321+2T>C)
c.*340+2T>C (n.*340+2T>C)
c.2561+2T>C (n.2561+2T>C)
c.2135+2T>C (n.2135+2T>C)
c.2159+2T>C (n.2159+2T>C)
n.2290+2T>C
c.2555+2T>C (n.2555+2T>C)
n.2735+2T>C
n.2715+2T>C
c.2207+2T>C (n.2207+2T>C)
n.2700+2T>C
20g.3228836A>TCA408086625SLC4A11c.2192+2T>A (n.2192+2T>A)
c.2123+2T>A (n.2123+2T>A)
c.2063+2T>A (n.2063+2T>A)
c.2078+2T>A (n.2078+2T>A)
c.2240+2T>A (n.2240+2T>A)
c.2321+2T>A (n.2321+2T>A)
c.*340+2T>A (n.*340+2T>A)
c.2561+2T>A (n.2561+2T>A)
c.2135+2T>A (n.2135+2T>A)
c.2159+2T>A (n.2159+2T>A)
n.2290+2T>A
c.2555+2T>A (n.2555+2T>A)
n.2735+2T>A
n.2715+2T>A
c.2207+2T>A (n.2207+2T>A)
n.2700+2T>A
20g.3228836_3228837delinsACCA2346475194SLC4A11c.2192+1_2192+2delinsGT (n.2192+1_2192+2delinsGT)
c.2123+1_2123+2delinsGT (n.2123+1_2123+2delinsGT)
c.2063+1_2063+2delinsGT (n.2063+1_2063+2delinsGT)
c.2078+1_2078+2delinsGT (n.2078+1_2078+2delinsGT)
c.2240+1_2240+2delinsGT (n.2240+1_2240+2delinsGT)
c.2321+1_2321+2delinsGT (n.2321+1_2321+2delinsGT)
c.*340+1_*340+2delinsGT (n.*340+1_*340+2delinsGT)
c.2561+1_2561+2delinsGT (n.2561+1_2561+2delinsGT)
c.2135+1_2135+2delinsGT (n.2135+1_2135+2delinsGT)
c.2159+1_2159+2delinsGT (n.2159+1_2159+2delinsGT)
n.2290+1_2290+2delinsGT
c.2555+1_2555+2delinsGT (n.2555+1_2555+2delinsGT)
n.2735+1_2735+2delinsGT
n.2715+1_2715+2delinsGT
c.2207+1_2207+2delinsGT (n.2207+1_2207+2delinsGT)
n.2700+1_2700+2delinsGT
20g.3228837delCA916083738SLC4A11c.2192+1del (n.2192+1del)
c.2123+1del (n.2123+1del)
c.2063+1del (n.2063+1del)
c.2078+1del (n.2078+1del)
c.2240+1del (n.2240+1del)
c.2321+1del (n.2321+1del)
c.*340+1del (n.*340+1del)
c.2561+1del (n.2561+1del)
c.2135+1del (n.2135+1del)
c.2159+1del (n.2159+1del)
n.2290+1del
c.2555+1del (n.2555+1del)
n.2735+1del
n.2715+1del
c.2207+1del (n.2207+1del)
n.2700+1del
 ClinVar dbSNP
20g.3228837C>ACA408086630SLC4A11c.2192+1G>T (n.2192+1G>T)
c.2123+1G>T (n.2123+1G>T)
c.2063+1G>T (n.2063+1G>T)
c.2078+1G>T (n.2078+1G>T)
c.2240+1G>T (n.2240+1G>T)
c.2321+1G>T (n.2321+1G>T)
c.*340+1G>T (n.*340+1G>T)
c.2561+1G>T (n.2561+1G>T)
c.2135+1G>T (n.2135+1G>T)
c.2159+1G>T (n.2159+1G>T)
n.2290+1G>T
c.2555+1G>T (n.2555+1G>T)
n.2735+1G>T
n.2715+1G>T
c.2207+1G>T (n.2207+1G>T)
n.2700+1G>T
 gnomAD v4
20g.3228837C=CA2346475195SLC4A11c.2192+1G= (n.2192+1G=)
c.2123+1G= (n.2123+1G=)
c.2063+1G= (n.2063+1G=)
c.2078+1G= (n.2078+1G=)
c.2240+1G= (n.2240+1G=)
c.2321+1G= (n.2321+1G=)
c.*340+1G= (n.*340+1G=)
c.2561+1G= (n.2561+1G=)
c.2135+1G= (n.2135+1G=)
c.2159+1G= (n.2159+1G=)
n.2290+1G=
c.2555+1G= (n.2555+1G=)
n.2735+1G=
n.2715+1G=
c.2207+1G= (n.2207+1G=)
n.2700+1G=
20g.3228837C>GCA408086632SLC4A11c.2192+1G>C (n.2192+1G>C)
c.2123+1G>C (n.2123+1G>C)
c.2063+1G>C (n.2063+1G>C)
c.2078+1G>C (n.2078+1G>C)
c.2240+1G>C (n.2240+1G>C)
c.2321+1G>C (n.2321+1G>C)
c.*340+1G>C (n.*340+1G>C)
c.2561+1G>C (n.2561+1G>C)
c.2135+1G>C (n.2135+1G>C)
c.2159+1G>C (n.2159+1G>C)
n.2290+1G>C
c.2555+1G>C (n.2555+1G>C)
n.2735+1G>C
n.2715+1G>C
c.2207+1G>C (n.2207+1G>C)
n.2700+1G>C
20g.3228837C>TCA9741561SLC4A11c.2192+1G>A (n.2192+1G>A)
c.2123+1G>A (n.2123+1G>A)
c.2063+1G>A (n.2063+1G>A)
c.2078+1G>A (n.2078+1G>A)
c.2240+1G>A (n.2240+1G>A)
c.2321+1G>A (n.2321+1G>A)
c.*340+1G>A (n.*340+1G>A)
c.2561+1G>A (n.2561+1G>A)
c.2135+1G>A (n.2135+1G>A)
c.2159+1G>A (n.2159+1G>A)
n.2290+1G>A
c.2555+1G>A (n.2555+1G>A)
n.2735+1G>A
n.2715+1G>A
c.2207+1G>A (n.2207+1G>A)
n.2700+1G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228838G>ACA9741563SLC4A11c.2192C>T (p.Thr731Met)
c.2123C>T (p.Thr708Met)
c.2063C>T (p.Thr688Met)
c.2078C>T (p.Thr693Met)
c.2240C>T (p.Thr747Met)
c.2321C>T (p.Thr774Met)
c.*340C>T (n.*340C>T)
c.2561C>T (p.Thr854Met)
c.2135C>T (p.Thr712Met)
c.2159C>T (p.Thr720Met)
n.2290C>T
c.2555C>T (p.Thr852Met)
n.2735C>T
n.2715C>T
c.2207C>T (p.Thr736Met)
n.2700C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228838G>CCA408086645SLC4A11c.2192C>G (p.Thr731Arg)
c.2123C>G (p.Thr708Arg)
c.2063C>G (p.Thr688Arg)
c.2078C>G (p.Thr693Arg)
c.2240C>G (p.Thr747Arg)
c.2321C>G (p.Thr774Arg)
c.*340C>G (n.*340C>G)
c.2561C>G (p.Thr854Arg)
c.2135C>G (p.Thr712Arg)
c.2159C>G (p.Thr720Arg)
n.2290C>G
c.2555C>G (p.Thr852Arg)
n.2735C>G
n.2715C>G
c.2207C>G (p.Thr736Arg)
n.2700C>G
20g.3228838G=CA2346475196SLC4A11c.2192C= (p.Thr731=)
c.2123C= (p.Thr708=)
c.2063C= (p.Thr688=)
c.2078C= (p.Thr693=)
c.2240C= (p.Thr747=)
c.2321C= (p.Thr774=)
c.*340C= (n.*340C=)
c.2561C= (p.Thr854=)
c.2135C= (p.Thr712=)
c.2159C= (p.Thr720=)
n.2290C=
c.2555C= (p.Thr852=)
n.2735C=
n.2715C=
c.2207C= (p.Thr736=)
n.2700C=
20g.3228838G>TCA408086638SLC4A11c.2192C>A (p.Thr731Lys)
c.2123C>A (p.Thr708Lys)
c.2063C>A (p.Thr688Lys)
c.2078C>A (p.Thr693Lys)
c.2240C>A (p.Thr747Lys)
c.2321C>A (p.Thr774Lys)
c.*340C>A (n.*340C>A)
c.2561C>A (p.Thr854Lys)
c.2135C>A (p.Thr712Lys)
c.2159C>A (p.Thr720Lys)
n.2290C>A
c.2555C>A (p.Thr852Lys)
n.2735C>A
n.2715C>A
c.2207C>A (p.Thr736Lys)
n.2700C>A
20g.3228839_3228846dupCA9741562SLC4A11c.2185_2192dup (p.Ile732MetfsTer5)
c.2116_2123dup (p.Ile709MetfsTer5)
c.2056_2063dup (p.Ile689MetfsTer5)
c.2071_2078dup (p.Ile694MetfsTer5)
c.2233_2240dup (p.Ile748MetfsTer5)
c.2314_2321dup (p.Ile775MetfsTer5)
c.*333_*340dup (n.*333_*340dup)
c.2554_2561dup (p.Ile855MetfsTer5)
c.2128_2135dup (p.Ile713MetfsTer5)
c.2152_2159dup (p.Ile721MetfsTer5)
n.2283_2290dup
c.2548_2555dup (p.Ile853MetfsTer5)
n.2728_2735dup
n.2708_2715dup
c.2200_2207dup (p.Ile737MetfsTer5)
n.2693_2700dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228839T>ACA408086648SLC4A11c.2191A>T (p.Thr731Ser)
c.2122A>T (p.Thr708Ser)
c.2062A>T (p.Thr688Ser)
c.2077A>T (p.Thr693Ser)
c.2239A>T (p.Thr747Ser)
c.2320A>T (p.Thr774Ser)
c.*339A>T (n.*339A>T)
c.2560A>T (p.Thr854Ser)
c.2134A>T (p.Thr712Ser)
c.2158A>T (p.Thr720Ser)
n.2289A>T
c.2554A>T (p.Thr852Ser)
n.2734A>T
n.2714A>T
c.2206A>T (p.Thr736Ser)
n.2699A>T
20g.3228839T>CCA408086650SLC4A11c.2191A>G (p.Thr731Ala)
c.2122A>G (p.Thr708Ala)
c.2062A>G (p.Thr688Ala)
c.2077A>G (p.Thr693Ala)
c.2239A>G (p.Thr747Ala)
c.2320A>G (p.Thr774Ala)
c.*339A>G (n.*339A>G)
c.2560A>G (p.Thr854Ala)
c.2134A>G (p.Thr712Ala)
c.2158A>G (p.Thr720Ala)
n.2289A>G
c.2554A>G (p.Thr852Ala)
n.2734A>G
n.2714A>G
c.2206A>G (p.Thr736Ala)
n.2699A>G
20g.3228839T>GCA408086652SLC4A11c.2191A>C (p.Thr731Pro)
c.2122A>C (p.Thr708Pro)
c.2062A>C (p.Thr688Pro)
c.2077A>C (p.Thr693Pro)
c.2239A>C (p.Thr747Pro)
c.2320A>C (p.Thr774Pro)
c.*339A>C (n.*339A>C)
c.2560A>C (p.Thr854Pro)
c.2134A>C (p.Thr712Pro)
c.2158A>C (p.Thr720Pro)
n.2289A>C
c.2554A>C (p.Thr852Pro)
n.2734A>C
n.2714A>C
c.2206A>C (p.Thr736Pro)
n.2699A>C
20g.3228840G>ACA509558137SLC4A11c.2190C>T (p.Asp730=)
c.2121C>T (p.Asp707=)
c.2061C>T (p.Asp687=)
c.2076C>T (p.Asp692=)
c.2238C>T (p.Asp746=)
c.2319C>T (p.Asp773=)
c.*338C>T (n.*338C>T)
c.2559C>T (p.Asp853=)
c.2133C>T (p.Asp711=)
c.2157C>T (p.Asp719=)
n.2288C>T
c.2553C>T (p.Asp851=)
n.2733C>T
n.2713C>T
c.2205C>T (p.Asp735=)
n.2698C>T
 dbSNP gnomAD v2 gnomAD v4
20g.3228840G>CCA408086653SLC4A11c.2190C>G (p.Asp730Glu)
c.2121C>G (p.Asp707Glu)
c.2061C>G (p.Asp687Glu)
c.2076C>G (p.Asp692Glu)
c.2238C>G (p.Asp746Glu)
c.2319C>G (p.Asp773Glu)
c.*338C>G (n.*338C>G)
c.2559C>G (p.Asp853Glu)
c.2133C>G (p.Asp711Glu)
c.2157C>G (p.Asp719Glu)
n.2288C>G
c.2553C>G (p.Asp851Glu)
n.2733C>G
n.2713C>G
c.2205C>G (p.Asp735Glu)
n.2698C>G
20g.3228840G=CA2346475197SLC4A11c.2190C= (p.Asp730=)
c.2121C= (p.Asp707=)
c.2061C= (p.Asp687=)
c.2076C= (p.Asp692=)
c.2238C= (p.Asp746=)
c.2319C= (p.Asp773=)
c.*338C= (n.*338C=)
c.2559C= (p.Asp853=)
c.2133C= (p.Asp711=)
c.2157C= (p.Asp719=)
n.2288C=
c.2553C= (p.Asp851=)
n.2733C=
n.2713C=
c.2205C= (p.Asp735=)
n.2698C=
20g.3228840G>TCA408086656SLC4A11c.2190C>A (p.Asp730Glu)
c.2121C>A (p.Asp707Glu)
c.2061C>A (p.Asp687Glu)
c.2076C>A (p.Asp692Glu)
c.2238C>A (p.Asp746Glu)
c.2319C>A (p.Asp773Glu)
c.*338C>A (n.*338C>A)
c.2559C>A (p.Asp853Glu)
c.2133C>A (p.Asp711Glu)
c.2157C>A (p.Asp719Glu)
n.2288C>A
c.2553C>A (p.Asp851Glu)
n.2733C>A
n.2713C>A
c.2205C>A (p.Asp735Glu)
n.2698C>A
20g.3228841T>ACA408086658SLC4A11c.2189A>T (p.Asp730Val)
c.2120A>T (p.Asp707Val)
c.2060A>T (p.Asp687Val)
c.2075A>T (p.Asp692Val)
c.2237A>T (p.Asp746Val)
c.2318A>T (p.Asp773Val)
c.*337A>T (n.*337A>T)
c.2558A>T (p.Asp853Val)
c.2132A>T (p.Asp711Val)
c.2156A>T (p.Asp719Val)
n.2287A>T
c.2552A>T (p.Asp851Val)
n.2732A>T
n.2712A>T
c.2204A>T (p.Asp735Val)
n.2697A>T
20g.3228841T>CCA408086660SLC4A11c.2189A>G (p.Asp730Gly)
c.2120A>G (p.Asp707Gly)
c.2060A>G (p.Asp687Gly)
c.2075A>G (p.Asp692Gly)
c.2237A>G (p.Asp746Gly)
c.2318A>G (p.Asp773Gly)
c.*337A>G (n.*337A>G)
c.2558A>G (p.Asp853Gly)
c.2132A>G (p.Asp711Gly)
c.2156A>G (p.Asp719Gly)
n.2287A>G
c.2552A>G (p.Asp851Gly)
n.2732A>G
n.2712A>G
c.2204A>G (p.Asp735Gly)
n.2697A>G
20g.3228841T>GCA408086662SLC4A11c.2189A>C (p.Asp730Ala)
c.2120A>C (p.Asp707Ala)
c.2060A>C (p.Asp687Ala)
c.2075A>C (p.Asp692Ala)
c.2237A>C (p.Asp746Ala)
c.2318A>C (p.Asp773Ala)
c.*337A>C (n.*337A>C)
c.2558A>C (p.Asp853Ala)
c.2132A>C (p.Asp711Ala)
c.2156A>C (p.Asp719Ala)
n.2287A>C
c.2552A>C (p.Asp851Ala)
n.2732A>C
n.2712A>C
c.2204A>C (p.Asp735Ala)
n.2697A>C
20g.3228842C>ACA408086665SLC4A11c.2188G>T (p.Asp730Tyr)
c.2119G>T (p.Asp707Tyr)
c.2059G>T (p.Asp687Tyr)
c.2074G>T (p.Asp692Tyr)
c.2236G>T (p.Asp746Tyr)
c.2317G>T (p.Asp773Tyr)
c.*336G>T (n.*336G>T)
c.2557G>T (p.Asp853Tyr)
c.2131G>T (p.Asp711Tyr)
c.2155G>T (p.Asp719Tyr)
n.2286G>T
c.2551G>T (p.Asp851Tyr)
n.2731G>T
n.2711G>T
c.2203G>T (p.Asp735Tyr)
n.2696G>T
20g.3228842C=CA2346475198SLC4A11c.2188G= (p.Asp730=)
c.2119G= (p.Asp707=)
c.2059G= (p.Asp687=)
c.2074G= (p.Asp692=)
c.2236G= (p.Asp746=)
c.2317G= (p.Asp773=)
c.*336G= (n.*336G=)
c.2557G= (p.Asp853=)
c.2131G= (p.Asp711=)
c.2155G= (p.Asp719=)
n.2286G=
c.2551G= (p.Asp851=)
n.2731G=
n.2711G=
c.2203G= (p.Asp735=)
n.2696G=
20g.3228842C>GCA408086666SLC4A11c.2188G>C (p.Asp730His)
c.2119G>C (p.Asp707His)
c.2059G>C (p.Asp687His)
c.2074G>C (p.Asp692His)
c.2236G>C (p.Asp746His)
c.2317G>C (p.Asp773His)
c.*336G>C (n.*336G>C)
c.2557G>C (p.Asp853His)
c.2131G>C (p.Asp711His)
c.2155G>C (p.Asp719His)
n.2286G>C
c.2551G>C (p.Asp851His)
n.2731G>C
n.2711G>C
c.2203G>C (p.Asp735His)
n.2696G>C
20g.3228842C>TCA9741564SLC4A11c.2188G>A (p.Asp730Asn)
c.2119G>A (p.Asp707Asn)
c.2059G>A (p.Asp687Asn)
c.2074G>A (p.Asp692Asn)
c.2236G>A (p.Asp746Asn)
c.2317G>A (p.Asp773Asn)
c.*336G>A (n.*336G>A)
c.2557G>A (p.Asp853Asn)
c.2131G>A (p.Asp711Asn)
c.2155G>A (p.Asp719Asn)
n.2286G>A
c.2551G>A (p.Asp851Asn)
n.2731G>A
n.2711G>A
c.2203G>A (p.Asp735Asn)
n.2696G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228843A>CCA408086671SLC4A11c.2187T>G (p.Tyr729Ter)
c.2118T>G (p.Tyr706Ter)
c.2058T>G (p.Tyr686Ter)
c.2073T>G (p.Tyr691Ter)
c.2235T>G (p.Tyr745Ter)
c.2316T>G (p.Tyr772Ter)
c.*335T>G (n.*335T>G)
c.2556T>G (p.Tyr852Ter)
c.2130T>G (p.Tyr710Ter)
c.2154T>G (p.Tyr718Ter)
n.2285T>G
c.2550T>G (p.Tyr850Ter)
n.2730T>G
n.2710T>G
c.2202T>G (p.Tyr734Ter)
n.2695T>G
20g.3228843A>GCA509558140SLC4A11c.2187T>C (p.Tyr729=)
c.2118T>C (p.Tyr706=)
c.2058T>C (p.Tyr686=)
c.2073T>C (p.Tyr691=)
c.2235T>C (p.Tyr745=)
c.2316T>C (p.Tyr772=)
c.*335T>C (n.*335T>C)
c.2556T>C (p.Tyr852=)
c.2130T>C (p.Tyr710=)
c.2154T>C (p.Tyr718=)
n.2285T>C
c.2550T>C (p.Tyr850=)
n.2730T>C
n.2710T>C
c.2202T>C (p.Tyr734=)
n.2695T>C
 gnomAD v4
20g.3228843A>TCA408086670SLC4A11c.2187T>A (p.Tyr729Ter)
c.2118T>A (p.Tyr706Ter)
c.2058T>A (p.Tyr686Ter)
c.2073T>A (p.Tyr691Ter)
c.2235T>A (p.Tyr745Ter)
c.2316T>A (p.Tyr772Ter)
c.*335T>A (n.*335T>A)
c.2556T>A (p.Tyr852Ter)
c.2130T>A (p.Tyr710Ter)
c.2154T>A (p.Tyr718Ter)
n.2285T>A
c.2550T>A (p.Tyr850Ter)
n.2730T>A
n.2710T>A
c.2202T>A (p.Tyr734Ter)
n.2695T>A
20g.3228844T>ACA408086675SLC4A11c.2186A>T (p.Tyr729Phe)
c.2117A>T (p.Tyr706Phe)
c.2057A>T (p.Tyr686Phe)
c.2072A>T (p.Tyr691Phe)
c.2234A>T (p.Tyr745Phe)
c.2315A>T (p.Tyr772Phe)
c.*334A>T (n.*334A>T)
c.2555A>T (p.Tyr852Phe)
c.2129A>T (p.Tyr710Phe)
c.2153A>T (p.Tyr718Phe)
n.2284A>T
c.2549A>T (p.Tyr850Phe)
n.2729A>T
n.2709A>T
c.2201A>T (p.Tyr734Phe)
n.2694A>T
20g.3228844T>CCA9741565SLC4A11c.2186A>G (p.Tyr729Cys)
c.2117A>G (p.Tyr706Cys)
c.2057A>G (p.Tyr686Cys)
c.2072A>G (p.Tyr691Cys)
c.2234A>G (p.Tyr745Cys)
c.2315A>G (p.Tyr772Cys)
c.*334A>G (n.*334A>G)
c.2555A>G (p.Tyr852Cys)
c.2129A>G (p.Tyr710Cys)
c.2153A>G (p.Tyr718Cys)
n.2284A>G
c.2549A>G (p.Tyr850Cys)
n.2729A>G
n.2709A>G
c.2201A>G (p.Tyr734Cys)
n.2694A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228844T>GCA408086677SLC4A11c.2186A>C (p.Tyr729Ser)
c.2117A>C (p.Tyr706Ser)
c.2057A>C (p.Tyr686Ser)
c.2072A>C (p.Tyr691Ser)
c.2234A>C (p.Tyr745Ser)
c.2315A>C (p.Tyr772Ser)
c.*334A>C (n.*334A>C)
c.2555A>C (p.Tyr852Ser)
c.2129A>C (p.Tyr710Ser)
c.2153A>C (p.Tyr718Ser)
n.2284A>C
c.2549A>C (p.Tyr850Ser)
n.2729A>C
n.2709A>C
c.2201A>C (p.Tyr734Ser)
n.2694A>C
20g.3228844T=CA2346475199SLC4A11c.2186A= (p.Tyr729=)
c.2117A= (p.Tyr706=)
c.2057A= (p.Tyr686=)
c.2072A= (p.Tyr691=)
c.2234A= (p.Tyr745=)
c.2315A= (p.Tyr772=)
c.*334A= (n.*334A=)
c.2555A= (p.Tyr852=)
c.2129A= (p.Tyr710=)
c.2153A= (p.Tyr718=)
n.2284A=
c.2549A= (p.Tyr850=)
n.2729A=
n.2709A=
c.2201A= (p.Tyr734=)
n.2694A=
20g.3228845A>CCA408086682SLC4A11c.2185T>G (p.Tyr729Asp)
c.2116T>G (p.Tyr706Asp)
c.2056T>G (p.Tyr686Asp)
c.2071T>G (p.Tyr691Asp)
c.2233T>G (p.Tyr745Asp)
c.2314T>G (p.Tyr772Asp)
c.*333T>G (n.*333T>G)
c.2554T>G (p.Tyr852Asp)
c.2128T>G (p.Tyr710Asp)
c.2152T>G (p.Tyr718Asp)
n.2283T>G
c.2548T>G (p.Tyr850Asp)
n.2728T>G
n.2708T>G
c.2200T>G (p.Tyr734Asp)
n.2693T>G
20g.3228845A>GCA408086686SLC4A11c.2185T>C (p.Tyr729His)
c.2116T>C (p.Tyr706His)
c.2056T>C (p.Tyr686His)
c.2071T>C (p.Tyr691His)
c.2233T>C (p.Tyr745His)
c.2314T>C (p.Tyr772His)
c.*333T>C (n.*333T>C)
c.2554T>C (p.Tyr852His)
c.2128T>C (p.Tyr710His)
c.2152T>C (p.Tyr718His)
n.2283T>C
c.2548T>C (p.Tyr850His)
n.2728T>C
n.2708T>C
c.2200T>C (p.Tyr734His)
n.2693T>C
20g.3228845A>TCA408086684SLC4A11c.2185T>A (p.Tyr729Asn)
c.2116T>A (p.Tyr706Asn)
c.2056T>A (p.Tyr686Asn)
c.2071T>A (p.Tyr691Asn)
c.2233T>A (p.Tyr745Asn)
c.2314T>A (p.Tyr772Asn)
c.*333T>A (n.*333T>A)
c.2554T>A (p.Tyr852Asn)
c.2128T>A (p.Tyr710Asn)
c.2152T>A (p.Tyr718Asn)
n.2283T>A
c.2548T>A (p.Tyr850Asn)
n.2728T>A
n.2708T>A
c.2200T>A (p.Tyr734Asn)
n.2693T>A
20g.3228846G>ACA509558143SLC4A11c.2184C>T (p.Ile728=)
c.2115C>T (p.Ile705=)
c.2055C>T (p.Ile685=)
c.2070C>T (p.Ile690=)
c.2232C>T (p.Ile744=)
c.2313C>T (p.Ile771=)
c.*332C>T (n.*332C>T)
c.2553C>T (p.Ile851=)
c.2127C>T (p.Ile709=)
c.2151C>T (p.Ile717=)
n.2282C>T
c.2547C>T (p.Ile849=)
n.2727C>T
n.2707C>T
c.2199C>T (p.Ile733=)
n.2692C>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
20g.3228846G>CCA408086688SLC4A11c.2184C>G (p.Ile728Met)
c.2115C>G (p.Ile705Met)
c.2055C>G (p.Ile685Met)
c.2070C>G (p.Ile690Met)
c.2232C>G (p.Ile744Met)
c.2313C>G (p.Ile771Met)
c.*332C>G (n.*332C>G)
c.2553C>G (p.Ile851Met)
c.2127C>G (p.Ile709Met)
c.2151C>G (p.Ile717Met)
n.2282C>G
c.2547C>G (p.Ile849Met)
n.2727C>G
n.2707C>G
c.2199C>G (p.Ile733Met)
n.2692C>G
 gnomAD v4
20g.3228846G=CA2346475200SLC4A11c.2184C= (p.Ile728=)
c.2115C= (p.Ile705=)
c.2055C= (p.Ile685=)
c.2070C= (p.Ile690=)
c.2232C= (p.Ile744=)
c.2313C= (p.Ile771=)
c.*332C= (n.*332C=)
c.2553C= (p.Ile851=)
c.2127C= (p.Ile709=)
c.2151C= (p.Ile717=)
n.2282C=
c.2547C= (p.Ile849=)
n.2727C=
n.2707C=
c.2199C= (p.Ile733=)
n.2692C=
20g.3228846G>TCA509558144SLC4A11c.2184C>A (p.Ile728=)
c.2115C>A (p.Ile705=)
c.2055C>A (p.Ile685=)
c.2070C>A (p.Ile690=)
c.2232C>A (p.Ile744=)
c.2313C>A (p.Ile771=)
c.*332C>A (n.*332C>A)
c.2553C>A (p.Ile851=)
c.2127C>A (p.Ile709=)
c.2151C>A (p.Ile717=)
n.2282C>A
c.2547C>A (p.Ile849=)
n.2727C>A
n.2707C>A
c.2199C>A (p.Ile733=)
n.2692C>A
20g.3228847A>CCA408086691SLC4A11c.2183T>G (p.Ile728Ser)
c.2114T>G (p.Ile705Ser)
c.2054T>G (p.Ile685Ser)
c.2069T>G (p.Ile690Ser)
c.2231T>G (p.Ile744Ser)
c.2312T>G (p.Ile771Ser)
c.*331T>G (n.*331T>G)
c.2552T>G (p.Ile851Ser)
c.2126T>G (p.Ile709Ser)
c.2150T>G (p.Ile717Ser)
n.2281T>G
c.2546T>G (p.Ile849Ser)
n.2726T>G
n.2706T>G
c.2198T>G (p.Ile733Ser)
n.2691T>G
20g.3228847A>GCA408086693SLC4A11c.2183T>C (p.Ile728Thr)
c.2114T>C (p.Ile705Thr)
c.2054T>C (p.Ile685Thr)
c.2069T>C (p.Ile690Thr)
c.2231T>C (p.Ile744Thr)
c.2312T>C (p.Ile771Thr)
c.*331T>C (n.*331T>C)
c.2552T>C (p.Ile851Thr)
c.2126T>C (p.Ile709Thr)
c.2150T>C (p.Ile717Thr)
n.2281T>C
c.2546T>C (p.Ile849Thr)
n.2726T>C
n.2706T>C
c.2198T>C (p.Ile733Thr)
n.2691T>C
 COSMIC COSMIC
20g.3228847A>TCA408086695SLC4A11c.2183T>A (p.Ile728Asn)
c.2114T>A (p.Ile705Asn)
c.2054T>A (p.Ile685Asn)
c.2069T>A (p.Ile690Asn)
c.2231T>A (p.Ile744Asn)
c.2312T>A (p.Ile771Asn)
c.*331T>A (n.*331T>A)
c.2552T>A (p.Ile851Asn)
c.2126T>A (p.Ile709Asn)
c.2150T>A (p.Ile717Asn)
n.2281T>A
c.2546T>A (p.Ile849Asn)
n.2726T>A
n.2706T>A
c.2198T>A (p.Ile733Asn)
n.2691T>A
20g.3228848T>ACA408086697SLC4A11c.2182A>T (p.Ile728Phe)
c.2113A>T (p.Ile705Phe)
c.2053A>T (p.Ile685Phe)
c.2068A>T (p.Ile690Phe)
c.2230A>T (p.Ile744Phe)
c.2311A>T (p.Ile771Phe)
c.*330A>T (n.*330A>T)
c.2551A>T (p.Ile851Phe)
c.2125A>T (p.Ile709Phe)
c.2149A>T (p.Ile717Phe)
n.2280A>T
c.2545A>T (p.Ile849Phe)
n.2725A>T
n.2705A>T
c.2197A>T (p.Ile733Phe)
n.2690A>T
20g.3228848T>CCA408086699SLC4A11c.2182A>G (p.Ile728Val)
c.2113A>G (p.Ile705Val)
c.2053A>G (p.Ile685Val)
c.2068A>G (p.Ile690Val)
c.2230A>G (p.Ile744Val)
c.2311A>G (p.Ile771Val)
c.*330A>G (n.*330A>G)
c.2551A>G (p.Ile851Val)
c.2125A>G (p.Ile709Val)
c.2149A>G (p.Ile717Val)
n.2280A>G
c.2545A>G (p.Ile849Val)
n.2725A>G
n.2705A>G
c.2197A>G (p.Ile733Val)
n.2690A>G
 dbSNP gnomAD v3 gnomAD v4
20g.3228848T>GCA408086700SLC4A11c.2182A>C (p.Ile728Leu)
c.2113A>C (p.Ile705Leu)
c.2053A>C (p.Ile685Leu)
c.2068A>C (p.Ile690Leu)
c.2230A>C (p.Ile744Leu)
c.2311A>C (p.Ile771Leu)
c.*330A>C (n.*330A>C)
c.2551A>C (p.Ile851Leu)
c.2125A>C (p.Ile709Leu)
c.2149A>C (p.Ile717Leu)
n.2280A>C
c.2545A>C (p.Ile849Leu)
n.2725A>C
n.2705A>C
c.2197A>C (p.Ile733Leu)
n.2690A>C
20g.3228848T=CA2346475201SLC4A11c.2182A= (p.Ile728=)
c.2113A= (p.Ile705=)
c.2053A= (p.Ile685=)
c.2068A= (p.Ile690=)
c.2230A= (p.Ile744=)
c.2311A= (p.Ile771=)
c.*330A= (n.*330A=)
c.2551A= (p.Ile851=)
c.2125A= (p.Ile709=)
c.2149A= (p.Ile717=)
n.2280A=
c.2545A= (p.Ile849=)
n.2725A=
n.2705A=
c.2197A= (p.Ile733=)
n.2690A=
20g.3228849G>ACA9741566SLC4A11c.2181C>T (p.His727=)
c.2112C>T (p.His704=)
c.2052C>T (p.His684=)
c.2067C>T (p.His689=)
c.2229C>T (p.His743=)
c.2310C>T (p.His770=)
c.*329C>T (n.*329C>T)
c.2550C>T (p.His850=)
c.2124C>T (p.His708=)
c.2148C>T (p.His716=)
n.2279C>T
c.2544C>T (p.His848=)
n.2724C>T
n.2704C>T
c.2196C>T (p.His732=)
n.2689C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228849G>CCA408086702SLC4A11c.2181C>G (p.His727Gln)
c.2112C>G (p.His704Gln)
c.2052C>G (p.His684Gln)
c.2067C>G (p.His689Gln)
c.2229C>G (p.His743Gln)
c.2310C>G (p.His770Gln)
c.*329C>G (n.*329C>G)
c.2550C>G (p.His850Gln)
c.2124C>G (p.His708Gln)
c.2148C>G (p.His716Gln)
n.2279C>G
c.2544C>G (p.His848Gln)
n.2724C>G
n.2704C>G
c.2196C>G (p.His732Gln)
n.2689C>G
20g.3228849G=CA2346475202SLC4A11c.2181C= (p.His727=)
c.2112C= (p.His704=)
c.2052C= (p.His684=)
c.2067C= (p.His689=)
c.2229C= (p.His743=)
c.2310C= (p.His770=)
c.*329C= (n.*329C=)
c.2550C= (p.His850=)
c.2124C= (p.His708=)
c.2148C= (p.His716=)
n.2279C=
c.2544C= (p.His848=)
n.2724C=
n.2704C=
c.2196C= (p.His732=)
n.2689C=
20g.3228849G>TCA408086703SLC4A11c.2181C>A (p.His727Gln)
c.2112C>A (p.His704Gln)
c.2052C>A (p.His684Gln)
c.2067C>A (p.His689Gln)
c.2229C>A (p.His743Gln)
c.2310C>A (p.His770Gln)
c.*329C>A (n.*329C>A)
c.2550C>A (p.His850Gln)
c.2124C>A (p.His708Gln)
c.2148C>A (p.His716Gln)
n.2279C>A
c.2544C>A (p.His848Gln)
n.2724C>A
n.2704C>A
c.2196C>A (p.His732Gln)
n.2689C>A
20g.3228850T>ACA408086705SLC4A11c.2180A>T (p.His727Leu)
c.2111A>T (p.His704Leu)
c.2051A>T (p.His684Leu)
c.2066A>T (p.His689Leu)
c.2228A>T (p.His743Leu)
c.2309A>T (p.His770Leu)
c.*328A>T (n.*328A>T)
c.2549A>T (p.His850Leu)
c.2123A>T (p.His708Leu)
c.2147A>T (p.His716Leu)
n.2278A>T
c.2543A>T (p.His848Leu)
n.2723A>T
n.2703A>T
c.2195A>T (p.His732Leu)
n.2688A>T
20g.3228850T>CCA408086708SLC4A11c.2180A>G (p.His727Arg)
c.2111A>G (p.His704Arg)
c.2051A>G (p.His684Arg)
c.2066A>G (p.His689Arg)
c.2228A>G (p.His743Arg)
c.2309A>G (p.His770Arg)
c.*328A>G (n.*328A>G)
c.2549A>G (p.His850Arg)
c.2123A>G (p.His708Arg)
c.2147A>G (p.His716Arg)
n.2278A>G
c.2543A>G (p.His848Arg)
n.2723A>G
n.2703A>G
c.2195A>G (p.His732Arg)
n.2688A>G
20g.3228850T>GCA408086710SLC4A11c.2180A>C (p.His727Pro)
c.2111A>C (p.His704Pro)
c.2051A>C (p.His684Pro)
c.2066A>C (p.His689Pro)
c.2228A>C (p.His743Pro)
c.2309A>C (p.His770Pro)
c.*328A>C (n.*328A>C)
c.2549A>C (p.His850Pro)
c.2123A>C (p.His708Pro)
c.2147A>C (p.His716Pro)
n.2278A>C
c.2543A>C (p.His848Pro)
n.2723A>C
n.2703A>C
c.2195A>C (p.His732Pro)
n.2688A>C
20g.3228851G>ACA408086713SLC4A11c.2179C>T (p.His727Tyr)
c.2110C>T (p.His704Tyr)
c.2050C>T (p.His684Tyr)
c.2065C>T (p.His689Tyr)
c.2227C>T (p.His743Tyr)
c.2308C>T (p.His770Tyr)
c.*327C>T (n.*327C>T)
c.2548C>T (p.His850Tyr)
c.2122C>T (p.His708Tyr)
c.2146C>T (p.His716Tyr)
n.2277C>T
c.2542C>T (p.His848Tyr)
n.2722C>T
n.2702C>T
c.2194C>T (p.His732Tyr)
n.2687C>T
20g.3228851G>CCA408086717SLC4A11c.2179C>G (p.His727Asp)
c.2110C>G (p.His704Asp)
c.2050C>G (p.His684Asp)
c.2065C>G (p.His689Asp)
c.2227C>G (p.His743Asp)
c.2308C>G (p.His770Asp)
c.*327C>G (n.*327C>G)
c.2548C>G (p.His850Asp)
c.2122C>G (p.His708Asp)
c.2146C>G (p.His716Asp)
n.2277C>G
c.2542C>G (p.His848Asp)
n.2722C>G
n.2702C>G
c.2194C>G (p.His732Asp)
n.2687C>G
20g.3228851G>TCA408086715SLC4A11c.2179C>A (p.His727Asn)
c.2110C>A (p.His704Asn)
c.2050C>A (p.His684Asn)
c.2065C>A (p.His689Asn)
c.2227C>A (p.His743Asn)
c.2308C>A (p.His770Asn)
c.*327C>A (n.*327C>A)
c.2548C>A (p.His850Asn)
c.2122C>A (p.His708Asn)
c.2146C>A (p.His716Asn)
n.2277C>A
c.2542C>A (p.His848Asn)
n.2722C>A
n.2702C>A
c.2194C>A (p.His732Asn)
n.2687C>A
20g.3228852T>ACA509558150SLC4A11c.2178A>T (p.Gly726=)
c.2109A>T (p.Gly703=)
c.2049A>T (p.Gly683=)
c.2064A>T (p.Gly688=)
c.2226A>T (p.Gly742=)
c.2307A>T (p.Gly769=)
c.*326A>T (n.*326A>T)
c.2547A>T (p.Gly849=)
c.2121A>T (p.Gly707=)
c.2145A>T (p.Gly715=)
n.2276A>T
c.2541A>T (p.Gly847=)
n.2721A>T
n.2701A>T
c.2193A>T (p.Gly731=)
n.2686A>T
20g.3228852T>CCA509558153SLC4A11c.2178A>G (p.Gly726=)
c.2109A>G (p.Gly703=)
c.2049A>G (p.Gly683=)
c.2064A>G (p.Gly688=)
c.2226A>G (p.Gly742=)
c.2307A>G (p.Gly769=)
c.*326A>G (n.*326A>G)
c.2547A>G (p.Gly849=)
c.2121A>G (p.Gly707=)
c.2145A>G (p.Gly715=)
n.2276A>G
c.2541A>G (p.Gly847=)
n.2721A>G
n.2701A>G
c.2193A>G (p.Gly731=)
n.2686A>G
20g.3228852T>GCA509558152SLC4A11c.2178A>C (p.Gly726=)
c.2109A>C (p.Gly703=)
c.2049A>C (p.Gly683=)
c.2064A>C (p.Gly688=)
c.2226A>C (p.Gly742=)
c.2307A>C (p.Gly769=)
c.*326A>C (n.*326A>C)
c.2547A>C (p.Gly849=)
c.2121A>C (p.Gly707=)
c.2145A>C (p.Gly715=)
n.2276A>C
c.2541A>C (p.Gly847=)
n.2721A>C
n.2701A>C
c.2193A>C (p.Gly731=)
n.2686A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.3228852T=CA2346475203SLC4A11c.2178A= (p.Gly726=)
c.2109A= (p.Gly703=)
c.2049A= (p.Gly683=)
c.2064A= (p.Gly688=)
c.2226A= (p.Gly742=)
c.2307A= (p.Gly769=)
c.*326A= (n.*326A=)
c.2547A= (p.Gly849=)
c.2121A= (p.Gly707=)
c.2145A= (p.Gly715=)
n.2276A=
c.2541A= (p.Gly847=)
n.2721A=
n.2701A=
c.2193A= (p.Gly731=)
n.2686A=
20g.3228853C>ACA408086720SLC4A11c.2177G>T (p.Gly726Val)
c.2108G>T (p.Gly703Val)
c.2048G>T (p.Gly683Val)
c.2063G>T (p.Gly688Val)
c.2225G>T (p.Gly742Val)
c.2306G>T (p.Gly769Val)
c.*325G>T (n.*325G>T)
c.2546G>T (p.Gly849Val)
c.2120G>T (p.Gly707Val)
c.2144G>T (p.Gly715Val)
n.2275G>T
c.2540G>T (p.Gly847Val)
n.2720G>T
n.2700G>T
c.2192G>T (p.Gly731Val)
n.2685G>T
20g.3228853C=CA2346475204SLC4A11c.2177G= (p.Gly726=)
c.2108G= (p.Gly703=)
c.2048G= (p.Gly683=)
c.2063G= (p.Gly688=)
c.2225G= (p.Gly742=)
c.2306G= (p.Gly769=)
c.*325G= (n.*325G=)
c.2546G= (p.Gly849=)
c.2120G= (p.Gly707=)
c.2144G= (p.Gly715=)
n.2275G=
c.2540G= (p.Gly847=)
n.2720G=
n.2700G=
c.2192G= (p.Gly731=)
n.2685G=
20g.3228853C>GCA408086722SLC4A11c.2177G>C (p.Gly726Ala)
c.2108G>C (p.Gly703Ala)
c.2048G>C (p.Gly683Ala)
c.2063G>C (p.Gly688Ala)
c.2225G>C (p.Gly742Ala)
c.2306G>C (p.Gly769Ala)
c.*325G>C (n.*325G>C)
c.2546G>C (p.Gly849Ala)
c.2120G>C (p.Gly707Ala)
c.2144G>C (p.Gly715Ala)
n.2275G>C
c.2540G>C (p.Gly847Ala)
n.2720G>C
n.2700G>C
c.2192G>C (p.Gly731Ala)
n.2685G>C
20g.3228853C>TCA9741567SLC4A11c.2177G>A (p.Gly726Glu)
c.2108G>A (p.Gly703Glu)
c.2048G>A (p.Gly683Glu)
c.2063G>A (p.Gly688Glu)
c.2225G>A (p.Gly742Glu)
c.2306G>A (p.Gly769Glu)
c.*325G>A (n.*325G>A)
c.2546G>A (p.Gly849Glu)
c.2120G>A (p.Gly707Glu)
c.2144G>A (p.Gly715Glu)
n.2275G>A
c.2540G>A (p.Gly847Glu)
n.2720G>A
n.2700G>A
c.2192G>A (p.Gly731Glu)
n.2685G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228854C>ACA408086726SLC4A11c.2176G>T (p.Gly726Ter)
c.2107G>T (p.Gly703Ter)
c.2047G>T (p.Gly683Ter)
c.2062G>T (p.Gly688Ter)
c.2224G>T (p.Gly742Ter)
c.2305G>T (p.Gly769Ter)
c.*324G>T (n.*324G>T)
c.2545G>T (p.Gly849Ter)
c.2119G>T (p.Gly707Ter)
c.2143G>T (p.Gly715Ter)
n.2274G>T
c.2539G>T (p.Gly847Ter)
n.2719G>T
n.2699G>T
c.2191G>T (p.Gly731Ter)
n.2684G>T
20g.3228854C=CA2346475205SLC4A11c.2176G= (p.Gly726=)
c.2107G= (p.Gly703=)
c.2047G= (p.Gly683=)
c.2062G= (p.Gly688=)
c.2224G= (p.Gly742=)
c.2305G= (p.Gly769=)
c.*324G= (n.*324G=)
c.2545G= (p.Gly849=)
c.2119G= (p.Gly707=)
c.2143G= (p.Gly715=)
n.2274G=
c.2539G= (p.Gly847=)
n.2719G=
n.2699G=
c.2191G= (p.Gly731=)
n.2684G=
20g.3228854C>GCA408086728SLC4A11c.2176G>C (p.Gly726Arg)
c.2107G>C (p.Gly703Arg)
c.2047G>C (p.Gly683Arg)
c.2062G>C (p.Gly688Arg)
c.2224G>C (p.Gly742Arg)
c.2305G>C (p.Gly769Arg)
c.*324G>C (n.*324G>C)
c.2545G>C (p.Gly849Arg)
c.2119G>C (p.Gly707Arg)
c.2143G>C (p.Gly715Arg)
n.2274G>C
c.2539G>C (p.Gly847Arg)
n.2719G>C
n.2699G>C
c.2191G>C (p.Gly731Arg)
n.2684G>C
20g.3228854C>TCA9741568SLC4A11c.2176G>A (p.Gly726Arg)
c.2107G>A (p.Gly703Arg)
c.2047G>A (p.Gly683Arg)
c.2062G>A (p.Gly688Arg)
c.2224G>A (p.Gly742Arg)
c.2305G>A (p.Gly769Arg)
c.*324G>A (n.*324G>A)
c.2545G>A (p.Gly849Arg)
c.2119G>A (p.Gly707Arg)
c.2143G>A (p.Gly715Arg)
n.2274G>A
c.2539G>A (p.Gly847Arg)
n.2719G>A
n.2699G>A
c.2191G>A (p.Gly731Arg)
n.2684G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228855G>ACA9741569SLC4A11c.2175C>T (p.Asn725=)
c.2106C>T (p.Asn702=)
c.2046C>T (p.Asn682=)
c.2061C>T (p.Asn687=)
c.2223C>T (p.Asn741=)
c.2304C>T (p.Asn768=)
c.*323C>T (n.*323C>T)
c.2544C>T (p.Asn848=)
c.2118C>T (p.Asn706=)
c.2142C>T (p.Asn714=)
n.2273C>T
c.2538C>T (p.Asn846=)
n.2718C>T
n.2698C>T
c.2190C>T (p.Asn730=)
n.2683C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228855G>CCA408086733SLC4A11c.2175C>G (p.Asn725Lys)
c.2106C>G (p.Asn702Lys)
c.2046C>G (p.Asn682Lys)
c.2061C>G (p.Asn687Lys)
c.2223C>G (p.Asn741Lys)
c.2304C>G (p.Asn768Lys)
c.*323C>G (n.*323C>G)
c.2544C>G (p.Asn848Lys)
c.2118C>G (p.Asn706Lys)
c.2142C>G (p.Asn714Lys)
n.2273C>G
c.2538C>G (p.Asn846Lys)
n.2718C>G
n.2698C>G
c.2190C>G (p.Asn730Lys)
n.2683C>G
20g.3228855G=CA2346475206SLC4A11c.2175C= (p.Asn725=)
c.2106C= (p.Asn702=)
c.2046C= (p.Asn682=)
c.2061C= (p.Asn687=)
c.2223C= (p.Asn741=)
c.2304C= (p.Asn768=)
c.*323C= (n.*323C=)
c.2544C= (p.Asn848=)
c.2118C= (p.Asn706=)
c.2142C= (p.Asn714=)
n.2273C=
c.2538C= (p.Asn846=)
n.2718C=
n.2698C=
c.2190C= (p.Asn730=)
n.2683C=
20g.3228855G>TCA408086734SLC4A11c.2175C>A (p.Asn725Lys)
c.2106C>A (p.Asn702Lys)
c.2046C>A (p.Asn682Lys)
c.2061C>A (p.Asn687Lys)
c.2223C>A (p.Asn741Lys)
c.2304C>A (p.Asn768Lys)
c.*323C>A (n.*323C>A)
c.2544C>A (p.Asn848Lys)
c.2118C>A (p.Asn706Lys)
c.2142C>A (p.Asn714Lys)
n.2273C>A
c.2538C>A (p.Asn846Lys)
n.2718C>A
n.2698C>A
c.2190C>A (p.Asn730Lys)
n.2683C>A
20g.3228856T>ACA408086742SLC4A11c.2174A>T (p.Asn725Ile)
c.2105A>T (p.Asn702Ile)
c.2045A>T (p.Asn682Ile)
c.2060A>T (p.Asn687Ile)
c.2222A>T (p.Asn741Ile)
c.2303A>T (p.Asn768Ile)
c.*322A>T (n.*322A>T)
c.2543A>T (p.Asn848Ile)
c.2117A>T (p.Asn706Ile)
c.2141A>T (p.Asn714Ile)
n.2272A>T
c.2537A>T (p.Asn846Ile)
n.2717A>T
n.2697A>T
c.2189A>T (p.Asn730Ile)
n.2682A>T
20g.3228856T>CCA408086740SLC4A11c.2174A>G (p.Asn725Ser)
c.2105A>G (p.Asn702Ser)
c.2045A>G (p.Asn682Ser)
c.2060A>G (p.Asn687Ser)
c.2222A>G (p.Asn741Ser)
c.2303A>G (p.Asn768Ser)
c.*322A>G (n.*322A>G)
c.2543A>G (p.Asn848Ser)
c.2117A>G (p.Asn706Ser)
c.2141A>G (p.Asn714Ser)
n.2272A>G
c.2537A>G (p.Asn846Ser)
n.2717A>G
n.2697A>G
c.2189A>G (p.Asn730Ser)
n.2682A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228856T>GCA408086737SLC4A11c.2174A>C (p.Asn725Thr)
c.2105A>C (p.Asn702Thr)
c.2045A>C (p.Asn682Thr)
c.2060A>C (p.Asn687Thr)
c.2222A>C (p.Asn741Thr)
c.2303A>C (p.Asn768Thr)
c.*322A>C (n.*322A>C)
c.2543A>C (p.Asn848Thr)
c.2117A>C (p.Asn706Thr)
c.2141A>C (p.Asn714Thr)
n.2272A>C
c.2537A>C (p.Asn846Thr)
n.2717A>C
n.2697A>C
c.2189A>C (p.Asn730Thr)
n.2682A>C
20g.3228856T=CA2346475207SLC4A11c.2174A= (p.Asn725=)
c.2105A= (p.Asn702=)
c.2045A= (p.Asn682=)
c.2060A= (p.Asn687=)
c.2222A= (p.Asn741=)
c.2303A= (p.Asn768=)
c.*322A= (n.*322A=)
c.2543A= (p.Asn848=)
c.2117A= (p.Asn706=)
c.2141A= (p.Asn714=)
n.2272A=
c.2537A= (p.Asn846=)
n.2717A=
n.2697A=
c.2189A= (p.Asn730=)
n.2682A=
20g.3228857T>ACA408086745SLC4A11c.2173A>T (p.Asn725Tyr)
c.2104A>T (p.Asn702Tyr)
c.2044A>T (p.Asn682Tyr)
c.2059A>T (p.Asn687Tyr)
c.2221A>T (p.Asn741Tyr)
c.2302A>T (p.Asn768Tyr)
c.*321A>T (n.*321A>T)
c.2542A>T (p.Asn848Tyr)
c.2116A>T (p.Asn706Tyr)
c.2140A>T (p.Asn714Tyr)
n.2271A>T
c.2536A>T (p.Asn846Tyr)
n.2716A>T
n.2696A>T
c.2188A>T (p.Asn730Tyr)
n.2681A>T
20g.3228857T>CCA408086748SLC4A11c.2173A>G (p.Asn725Asp)
c.2104A>G (p.Asn702Asp)
c.2044A>G (p.Asn682Asp)
c.2059A>G (p.Asn687Asp)
c.2221A>G (p.Asn741Asp)
c.2302A>G (p.Asn768Asp)
c.*321A>G (n.*321A>G)
c.2542A>G (p.Asn848Asp)
c.2116A>G (p.Asn706Asp)
c.2140A>G (p.Asn714Asp)
n.2271A>G
c.2536A>G (p.Asn846Asp)
n.2716A>G
n.2696A>G
c.2188A>G (p.Asn730Asp)
n.2681A>G
20g.3228857T>GCA408086750SLC4A11c.2173A>C (p.Asn725His)
c.2104A>C (p.Asn702His)
c.2044A>C (p.Asn682His)
c.2059A>C (p.Asn687His)
c.2221A>C (p.Asn741His)
c.2302A>C (p.Asn768His)
c.*321A>C (n.*321A>C)
c.2542A>C (p.Asn848His)
c.2116A>C (p.Asn706His)
c.2140A>C (p.Asn714His)
n.2271A>C
c.2536A>C (p.Asn846His)
n.2716A>C
n.2696A>C
c.2188A>C (p.Asn730His)
n.2681A>C
20g.3228857_3228860delinsTCTCCA2346475208SLC4A11c.2170_2173delinsGAGA (p.Glu724=)
c.2101_2104delinsGAGA (p.Glu701=)
c.2041_2044delinsGAGA (p.Glu681=)
c.2056_2059delinsGAGA (p.Glu686=)
c.2218_2221delinsGAGA (p.Glu740=)
c.2299_2302delinsGAGA (p.Glu767=)
c.*318_*321delinsGAGA (n.*318_*321delinsGAGA)
c.2539_2542delinsGAGA (p.Glu847=)
c.2113_2116delinsGAGA (p.Glu705=)
c.2137_2140delinsGAGA (p.Glu713=)
n.2268_2271delinsGAGA
c.2533_2536delinsGAGA (p.Glu845=)
n.2713_2716delinsGAGA
n.2693_2696delinsGAGA
c.2185_2188delinsGAGA (p.Glu729=)
n.2678_2681delinsGAGA
20g.3228858C>ACA408086755SLC4A11c.2172G>T (p.Glu724Asp)
c.2103G>T (p.Glu701Asp)
c.2043G>T (p.Glu681Asp)
c.2058G>T (p.Glu686Asp)
c.2220G>T (p.Glu740Asp)
c.2301G>T (p.Glu767Asp)
c.*320G>T (n.*320G>T)
c.2541G>T (p.Glu847Asp)
c.2115G>T (p.Glu705Asp)
c.2139G>T (p.Glu713Asp)
n.2270G>T
c.2535G>T (p.Glu845Asp)
n.2715G>T
n.2695G>T
c.2187G>T (p.Glu729Asp)
n.2680G>T
20g.3228858C>GCA408086757SLC4A11c.2172G>C (p.Glu724Asp)
c.2103G>C (p.Glu701Asp)
c.2043G>C (p.Glu681Asp)
c.2058G>C (p.Glu686Asp)
c.2220G>C (p.Glu740Asp)
c.2301G>C (p.Glu767Asp)
c.*320G>C (n.*320G>C)
c.2541G>C (p.Glu847Asp)
c.2115G>C (p.Glu705Asp)
c.2139G>C (p.Glu713Asp)
n.2270G>C
c.2535G>C (p.Glu845Asp)
n.2715G>C
n.2695G>C
c.2187G>C (p.Glu729Asp)
n.2680G>C
20g.3228858C>TCA509558156SLC4A11c.2172G>A (p.Glu724=)
c.2103G>A (p.Glu701=)
c.2043G>A (p.Glu681=)
c.2058G>A (p.Glu686=)
c.2220G>A (p.Glu740=)
c.2301G>A (p.Glu767=)
c.*320G>A (n.*320G>A)
c.2541G>A (p.Glu847=)
c.2115G>A (p.Glu705=)
c.2139G>A (p.Glu713=)
n.2270G>A
c.2535G>A (p.Glu845=)
n.2715G>A
n.2695G>A
c.2187G>A (p.Glu729=)
n.2680G>A
20g.3228859_3228861delCA9741570SLC4A11c.2170_2172del (p.Glu724del)
c.2101_2103del (p.Glu701del)
c.2041_2043del (p.Glu681del)
c.2056_2058del (p.Glu686del)
c.2218_2220del (p.Glu740del)
c.2299_2301del (p.Glu767del)
c.*318_*320del (n.*318_*320del)
c.2539_2541del (p.Glu847del)
c.2113_2115del (p.Glu705del)
c.2137_2139del (p.Glu713del)
n.2268_2270del
c.2533_2535del (p.Glu845del)
n.2713_2715del
n.2693_2695del
c.2185_2187del (p.Glu729del)
n.2678_2680del
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228859T>ACA408086763SLC4A11c.2171A>T (p.Glu724Val)
c.2102A>T (p.Glu701Val)
c.2042A>T (p.Glu681Val)
c.2057A>T (p.Glu686Val)
c.2219A>T (p.Glu740Val)
c.2300A>T (p.Glu767Val)
c.*319A>T (n.*319A>T)
c.2540A>T (p.Glu847Val)
c.2114A>T (p.Glu705Val)
c.2138A>T (p.Glu713Val)
n.2269A>T
c.2534A>T (p.Glu845Val)
n.2714A>T
n.2694A>T
c.2186A>T (p.Glu729Val)
n.2679A>T
20g.3228859T>CCA408086765SLC4A11c.2171A>G (p.Glu724Gly)
c.2102A>G (p.Glu701Gly)
c.2042A>G (p.Glu681Gly)
c.2057A>G (p.Glu686Gly)
c.2219A>G (p.Glu740Gly)
c.2300A>G (p.Glu767Gly)
c.*319A>G (n.*319A>G)
c.2540A>G (p.Glu847Gly)
c.2114A>G (p.Glu705Gly)
c.2138A>G (p.Glu713Gly)
n.2269A>G
c.2534A>G (p.Glu845Gly)
n.2714A>G
n.2694A>G
c.2186A>G (p.Glu729Gly)
n.2679A>G
20g.3228859T>GCA408086768SLC4A11c.2171A>C (p.Glu724Ala)
c.2102A>C (p.Glu701Ala)
c.2042A>C (p.Glu681Ala)
c.2057A>C (p.Glu686Ala)
c.2219A>C (p.Glu740Ala)
c.2300A>C (p.Glu767Ala)
c.*319A>C (n.*319A>C)
c.2540A>C (p.Glu847Ala)
c.2114A>C (p.Glu705Ala)
c.2138A>C (p.Glu713Ala)
n.2269A>C
c.2534A>C (p.Glu845Ala)
n.2714A>C
n.2694A>C
c.2186A>C (p.Glu729Ala)
n.2679A>C
20g.3228860C>ACA408086771SLC4A11c.2170G>T (p.Glu724Ter)
c.2101G>T (p.Glu701Ter)
c.2041G>T (p.Glu681Ter)
c.2056G>T (p.Glu686Ter)
c.2218G>T (p.Glu740Ter)
c.2299G>T (p.Glu767Ter)
c.*318G>T (n.*318G>T)
c.2539G>T (p.Glu847Ter)
c.2113G>T (p.Glu705Ter)
c.2137G>T (p.Glu713Ter)
n.2268G>T
c.2533G>T (p.Glu845Ter)
n.2713G>T
n.2693G>T
c.2185G>T (p.Glu729Ter)
n.2678G>T
20g.3228860C>GCA408086772SLC4A11c.2170G>C (p.Glu724Gln)
c.2101G>C (p.Glu701Gln)
c.2041G>C (p.Glu681Gln)
c.2056G>C (p.Glu686Gln)
c.2218G>C (p.Glu740Gln)
c.2299G>C (p.Glu767Gln)
c.*318G>C (n.*318G>C)
c.2539G>C (p.Glu847Gln)
c.2113G>C (p.Glu705Gln)
c.2137G>C (p.Glu713Gln)
n.2268G>C
c.2533G>C (p.Glu845Gln)
n.2713G>C
n.2693G>C
c.2185G>C (p.Glu729Gln)
n.2678G>C
20g.3228860C>TCA408086775SLC4A11c.2170G>A (p.Glu724Lys)
c.2101G>A (p.Glu701Lys)
c.2041G>A (p.Glu681Lys)
c.2056G>A (p.Glu686Lys)
c.2218G>A (p.Glu740Lys)
c.2299G>A (p.Glu767Lys)
c.*318G>A (n.*318G>A)
c.2539G>A (p.Glu847Lys)
c.2113G>A (p.Glu705Lys)
c.2137G>A (p.Glu713Lys)
n.2268G>A
c.2533G>A (p.Glu845Lys)
n.2713G>A
n.2693G>A
c.2185G>A (p.Glu729Lys)
n.2678G>A
20g.3228861C>ACA509558158SLC4A11c.2169G>T (p.Val723=)
c.2100G>T (p.Val700=)
c.2040G>T (p.Val680=)
c.2055G>T (p.Val685=)
c.2217G>T (p.Val739=)
c.2298G>T (p.Val766=)
c.*317G>T (n.*317G>T)
c.2538G>T (p.Val846=)
c.2112G>T (p.Val704=)
c.2136G>T (p.Val712=)
n.2267G>T
c.2532G>T (p.Val844=)
n.2712G>T
n.2692G>T
c.2184G>T (p.Val728=)
n.2677G>T
20g.3228861C>GCA509558160SLC4A11c.2169G>C (p.Val723=)
c.2100G>C (p.Val700=)
c.2040G>C (p.Val680=)
c.2055G>C (p.Val685=)
c.2217G>C (p.Val739=)
c.2298G>C (p.Val766=)
c.*317G>C (n.*317G>C)
c.2538G>C (p.Val846=)
c.2112G>C (p.Val704=)
c.2136G>C (p.Val712=)
n.2267G>C
c.2532G>C (p.Val844=)
n.2712G>C
n.2692G>C
c.2184G>C (p.Val728=)
n.2677G>C
20g.3228861C>TCA509558161SLC4A11c.2169G>A (p.Val723=)
c.2100G>A (p.Val700=)
c.2040G>A (p.Val680=)
c.2055G>A (p.Val685=)
c.2217G>A (p.Val739=)
c.2298G>A (p.Val766=)
c.*317G>A (n.*317G>A)
c.2538G>A (p.Val846=)
c.2112G>A (p.Val704=)
c.2136G>A (p.Val712=)
n.2267G>A
c.2532G>A (p.Val844=)
n.2712G>A
n.2692G>A
c.2184G>A (p.Val728=)
n.2677G>A
20g.3228862A>CCA408086777SLC4A11c.2168T>G (p.Val723Gly)
c.2099T>G (p.Val700Gly)
c.2039T>G (p.Val680Gly)
c.2054T>G (p.Val685Gly)
c.2216T>G (p.Val739Gly)
c.2297T>G (p.Val766Gly)
c.*316T>G (n.*316T>G)
c.2537T>G (p.Val846Gly)
c.2111T>G (p.Val704Gly)
c.2135T>G (p.Val712Gly)
n.2266T>G
c.2531T>G (p.Val844Gly)
n.2711T>G
n.2691T>G
c.2183T>G (p.Val728Gly)
n.2676T>G
20g.3228862A>GCA408086781SLC4A11c.2168T>C (p.Val723Ala)
c.2099T>C (p.Val700Ala)
c.2039T>C (p.Val680Ala)
c.2054T>C (p.Val685Ala)
c.2216T>C (p.Val739Ala)
c.2297T>C (p.Val766Ala)
c.*316T>C (n.*316T>C)
c.2537T>C (p.Val846Ala)
c.2111T>C (p.Val704Ala)
c.2135T>C (p.Val712Ala)
n.2266T>C
c.2531T>C (p.Val844Ala)
n.2711T>C
n.2691T>C
c.2183T>C (p.Val728Ala)
n.2676T>C
20g.3228862A>TCA408086780SLC4A11c.2168T>A (p.Val723Glu)
c.2099T>A (p.Val700Glu)
c.2039T>A (p.Val680Glu)
c.2054T>A (p.Val685Glu)
c.2216T>A (p.Val739Glu)
c.2297T>A (p.Val766Glu)
c.*316T>A (n.*316T>A)
c.2537T>A (p.Val846Glu)
c.2111T>A (p.Val704Glu)
c.2135T>A (p.Val712Glu)
n.2266T>A
c.2531T>A (p.Val844Glu)
n.2711T>A
n.2691T>A
c.2183T>A (p.Val728Glu)
n.2676T>A
 COSMIC
20g.3228863C>ACA408086783SLC4A11c.2167G>T (p.Val723Leu)
c.2098G>T (p.Val700Leu)
c.2038G>T (p.Val680Leu)
c.2053G>T (p.Val685Leu)
c.2215G>T (p.Val739Leu)
c.2296G>T (p.Val766Leu)
c.*315G>T (n.*315G>T)
c.2536G>T (p.Val846Leu)
c.2110G>T (p.Val704Leu)
c.2134G>T (p.Val712Leu)
n.2265G>T
c.2530G>T (p.Val844Leu)
n.2710G>T
n.2690G>T
c.2182G>T (p.Val728Leu)
n.2675G>T
20g.3228863C>GCA408086784SLC4A11c.2167G>C (p.Val723Leu)
c.2098G>C (p.Val700Leu)
c.2038G>C (p.Val680Leu)
c.2053G>C (p.Val685Leu)
c.2215G>C (p.Val739Leu)
c.2296G>C (p.Val766Leu)
c.*315G>C (n.*315G>C)
c.2536G>C (p.Val846Leu)
c.2110G>C (p.Val704Leu)
c.2134G>C (p.Val712Leu)
n.2265G>C
c.2530G>C (p.Val844Leu)
n.2710G>C
n.2690G>C
c.2182G>C (p.Val728Leu)
n.2675G>C
20g.3228863C>TCA408086786SLC4A11c.2167G>A (p.Val723Met)
c.2098G>A (p.Val700Met)
c.2038G>A (p.Val680Met)
c.2053G>A (p.Val685Met)
c.2215G>A (p.Val739Met)
c.2296G>A (p.Val766Met)
c.*315G>A (n.*315G>A)
c.2536G>A (p.Val846Met)
c.2110G>A (p.Val704Met)
c.2134G>A (p.Val712Met)
n.2265G>A
c.2530G>A (p.Val844Met)
n.2710G>A
n.2690G>A
c.2182G>A (p.Val728Met)
n.2675G>A
20g.3228864A>CCA509558162SLC4A11c.2166T>G (p.Arg722=)
c.2097T>G (p.Arg699=)
c.2037T>G (p.Arg679=)
c.2052T>G (p.Arg684=)
c.2214T>G (p.Arg738=)
c.2295T>G (p.Arg765=)
c.*314T>G (n.*314T>G)
c.2535T>G (p.Arg845=)
c.2109T>G (p.Arg703=)
c.2133T>G (p.Arg711=)
n.2264T>G
c.2529T>G (p.Arg843=)
n.2709T>G
n.2689T>G
c.2181T>G (p.Arg727=)
n.2674T>G
20g.3228864A>GCA509558163SLC4A11c.2166T>C (p.Arg722=)
c.2097T>C (p.Arg699=)
c.2037T>C (p.Arg679=)
c.2052T>C (p.Arg684=)
c.2214T>C (p.Arg738=)
c.2295T>C (p.Arg765=)
c.*314T>C (n.*314T>C)
c.2535T>C (p.Arg845=)
c.2109T>C (p.Arg703=)
c.2133T>C (p.Arg711=)
n.2264T>C
c.2529T>C (p.Arg843=)
n.2709T>C
n.2689T>C
c.2181T>C (p.Arg727=)
n.2674T>C
20g.3228864A>TCA509558164SLC4A11c.2166T>A (p.Arg722=)
c.2097T>A (p.Arg699=)
c.2037T>A (p.Arg679=)
c.2052T>A (p.Arg684=)
c.2214T>A (p.Arg738=)
c.2295T>A (p.Arg765=)
c.*314T>A (n.*314T>A)
c.2535T>A (p.Arg845=)
c.2109T>A (p.Arg703=)
c.2133T>A (p.Arg711=)
n.2264T>A
c.2529T>A (p.Arg843=)
n.2709T>A
n.2689T>A
c.2181T>A (p.Arg727=)
n.2674T>A
20g.3228865C>ACA9741572SLC4A11c.2165G>T (p.Arg722Leu)
c.2096G>T (p.Arg699Leu)
c.2036G>T (p.Arg679Leu)
c.2051G>T (p.Arg684Leu)
c.2213G>T (p.Arg738Leu)
c.2294G>T (p.Arg765Leu)
c.*313G>T (n.*313G>T)
c.2534G>T (p.Arg845Leu)
c.2108G>T (p.Arg703Leu)
c.2132G>T (p.Arg711Leu)
n.2263G>T
c.2528G>T (p.Arg843Leu)
n.2708G>T
n.2688G>T
c.2180G>T (p.Arg727Leu)
n.2673G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228865C=CA2346475209SLC4A11c.2165G= (p.Arg722=)
c.2096G= (p.Arg699=)
c.2036G= (p.Arg679=)
c.2051G= (p.Arg684=)
c.2213G= (p.Arg738=)
c.2294G= (p.Arg765=)
c.*313G= (n.*313G=)
c.2534G= (p.Arg845=)
c.2108G= (p.Arg703=)
c.2132G= (p.Arg711=)
n.2263G=
c.2528G= (p.Arg843=)
n.2708G=
n.2688G=
c.2180G= (p.Arg727=)
n.2673G=
20g.3228865C>GCA408086791SLC4A11c.2165G>C (p.Arg722Pro)
c.2096G>C (p.Arg699Pro)
c.2036G>C (p.Arg679Pro)
c.2051G>C (p.Arg684Pro)
c.2213G>C (p.Arg738Pro)
c.2294G>C (p.Arg765Pro)
c.*313G>C (n.*313G>C)
c.2534G>C (p.Arg845Pro)
c.2108G>C (p.Arg703Pro)
c.2132G>C (p.Arg711Pro)
n.2263G>C
c.2528G>C (p.Arg843Pro)
n.2708G>C
n.2688G>C
c.2180G>C (p.Arg727Pro)
n.2673G>C
 gnomAD v4
20g.3228865C>TCA9741571SLC4A11c.2165G>A (p.Arg722His)
c.2096G>A (p.Arg699His)
c.2036G>A (p.Arg679His)
c.2051G>A (p.Arg684His)
c.2213G>A (p.Arg738His)
c.2294G>A (p.Arg765His)
c.*313G>A (n.*313G>A)
c.2534G>A (p.Arg845His)
c.2108G>A (p.Arg703His)
c.2132G>A (p.Arg711His)
n.2263G>A
c.2528G>A (p.Arg843His)
n.2708G>A
n.2688G>A
c.2180G>A (p.Arg727His)
n.2673G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228866G>ACA9741573SLC4A11c.2164C>T (p.Arg722Cys)
c.2095C>T (p.Arg699Cys)
c.2035C>T (p.Arg679Cys)
c.2050C>T (p.Arg684Cys)
c.2212C>T (p.Arg738Cys)
c.2293C>T (p.Arg765Cys)
c.*312C>T (n.*312C>T)
c.2533C>T (p.Arg845Cys)
c.2107C>T (p.Arg703Cys)
c.2131C>T (p.Arg711Cys)
n.2262C>T
c.2527C>T (p.Arg843Cys)
n.2707C>T
n.2687C>T
c.2179C>T (p.Arg727Cys)
n.2672C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228866G>CCA408086796SLC4A11c.2164C>G (p.Arg722Gly)
c.2095C>G (p.Arg699Gly)
c.2035C>G (p.Arg679Gly)
c.2050C>G (p.Arg684Gly)
c.2212C>G (p.Arg738Gly)
c.2293C>G (p.Arg765Gly)
c.*312C>G (n.*312C>G)
c.2533C>G (p.Arg845Gly)
c.2107C>G (p.Arg703Gly)
c.2131C>G (p.Arg711Gly)
n.2262C>G
c.2527C>G (p.Arg843Gly)
n.2707C>G
n.2687C>G
c.2179C>G (p.Arg727Gly)
n.2672C>G
20g.3228866G=CA2346475210SLC4A11c.2164C= (p.Arg722=)
c.2095C= (p.Arg699=)
c.2035C= (p.Arg679=)
c.2050C= (p.Arg684=)
c.2212C= (p.Arg738=)
c.2293C= (p.Arg765=)
c.*312C= (n.*312C=)
c.2533C= (p.Arg845=)
c.2107C= (p.Arg703=)
c.2131C= (p.Arg711=)
n.2262C=
c.2527C= (p.Arg843=)
n.2707C=
n.2687C=
c.2179C= (p.Arg727=)
n.2672C=
20g.3228866G>TCA408086799SLC4A11c.2164C>A (p.Arg722Ser)
c.2095C>A (p.Arg699Ser)
c.2035C>A (p.Arg679Ser)
c.2050C>A (p.Arg684Ser)
c.2212C>A (p.Arg738Ser)
c.2293C>A (p.Arg765Ser)
c.*312C>A (n.*312C>A)
c.2533C>A (p.Arg845Ser)
c.2107C>A (p.Arg703Ser)
c.2131C>A (p.Arg711Ser)
n.2262C>A
c.2527C>A (p.Arg843Ser)
n.2707C>A
n.2687C>A
c.2179C>A (p.Arg727Ser)
n.2672C>A
 dbSNP gnomAD v3 gnomAD v4
20g.3228867C>ACA408086802SLC4A11c.2163G>T (p.Glu721Asp)
c.2094G>T (p.Glu698Asp)
c.2034G>T (p.Glu678Asp)
c.2049G>T (p.Glu683Asp)
c.2211G>T (p.Glu737Asp)
c.2292G>T (p.Glu764Asp)
c.*311G>T (n.*311G>T)
c.2532G>T (p.Glu844Asp)
c.2106G>T (p.Glu702Asp)
c.2130G>T (p.Glu710Asp)
n.2261G>T
c.2526G>T (p.Glu842Asp)
n.2706G>T
n.2686G>T
c.2178G>T (p.Glu726Asp)
n.2671G>T
20g.3228867C=CA2346475211SLC4A11c.2163G= (p.Glu721=)
c.2094G= (p.Glu698=)
c.2034G= (p.Glu678=)
c.2049G= (p.Glu683=)
c.2211G= (p.Glu737=)
c.2292G= (p.Glu764=)
c.*311G= (n.*311G=)
c.2532G= (p.Glu844=)
c.2106G= (p.Glu702=)
c.2130G= (p.Glu710=)
n.2261G=
c.2526G= (p.Glu842=)
n.2706G=
n.2686G=
c.2178G= (p.Glu726=)
n.2671G=
20g.3228867C>GCA408086804SLC4A11c.2163G>C (p.Glu721Asp)
c.2094G>C (p.Glu698Asp)
c.2034G>C (p.Glu678Asp)
c.2049G>C (p.Glu683Asp)
c.2211G>C (p.Glu737Asp)
c.2292G>C (p.Glu764Asp)
c.*311G>C (n.*311G>C)
c.2532G>C (p.Glu844Asp)
c.2106G>C (p.Glu702Asp)
c.2130G>C (p.Glu710Asp)
n.2261G>C
c.2526G>C (p.Glu842Asp)
n.2706G>C
n.2686G>C
c.2178G>C (p.Glu726Asp)
n.2671G>C
20g.3228867C>TCA509558166SLC4A11c.2163G>A (p.Glu721=)
c.2094G>A (p.Glu698=)
c.2034G>A (p.Glu678=)
c.2049G>A (p.Glu683=)
c.2211G>A (p.Glu737=)
c.2292G>A (p.Glu764=)
c.*311G>A (n.*311G>A)
c.2532G>A (p.Glu844=)
c.2106G>A (p.Glu702=)
c.2130G>A (p.Glu710=)
n.2261G>A
c.2526G>A (p.Glu842=)
n.2706G>A
n.2686G>A
c.2178G>A (p.Glu726=)
n.2671G>A
 dbSNP gnomAD v2 gnomAD v4
20g.3228868T>ACA408086811SLC4A11c.2162A>T (p.Glu721Val)
c.2093A>T (p.Glu698Val)
c.2033A>T (p.Glu678Val)
c.2048A>T (p.Glu683Val)
c.2210A>T (p.Glu737Val)
c.2291A>T (p.Glu764Val)
c.*310A>T (n.*310A>T)
c.2531A>T (p.Glu844Val)
c.2105A>T (p.Glu702Val)
c.2129A>T (p.Glu710Val)
n.2260A>T
c.2525A>T (p.Glu842Val)
n.2705A>T
n.2685A>T
c.2177A>T (p.Glu726Val)
n.2670A>T
20g.3228868T>CCA408086810SLC4A11c.2162A>G (p.Glu721Gly)
c.2093A>G (p.Glu698Gly)
c.2033A>G (p.Glu678Gly)
c.2048A>G (p.Glu683Gly)
c.2210A>G (p.Glu737Gly)
c.2291A>G (p.Glu764Gly)
c.*310A>G (n.*310A>G)
c.2531A>G (p.Glu844Gly)
c.2105A>G (p.Glu702Gly)
c.2129A>G (p.Glu710Gly)
n.2260A>G
c.2525A>G (p.Glu842Gly)
n.2705A>G
n.2685A>G
c.2177A>G (p.Glu726Gly)
n.2670A>G
20g.3228868T>GCA408086808SLC4A11c.2162A>C (p.Glu721Ala)
c.2093A>C (p.Glu698Ala)
c.2033A>C (p.Glu678Ala)
c.2048A>C (p.Glu683Ala)
c.2210A>C (p.Glu737Ala)
c.2291A>C (p.Glu764Ala)
c.*310A>C (n.*310A>C)
c.2531A>C (p.Glu844Ala)
c.2105A>C (p.Glu702Ala)
c.2129A>C (p.Glu710Ala)
n.2260A>C
c.2525A>C (p.Glu842Ala)
n.2705A>C
n.2685A>C
c.2177A>C (p.Glu726Ala)
n.2670A>C
20g.3228869C>ACA408086814SLC4A11c.2161G>T (p.Glu721Ter)
c.2092G>T (p.Glu698Ter)
c.2032G>T (p.Glu678Ter)
c.2047G>T (p.Glu683Ter)
c.2209G>T (p.Glu737Ter)
c.2290G>T (p.Glu764Ter)
c.*309G>T (n.*309G>T)
c.2530G>T (p.Glu844Ter)
c.2104G>T (p.Glu702Ter)
c.2128G>T (p.Glu710Ter)
n.2259G>T
c.2524G>T (p.Glu842Ter)
n.2704G>T
n.2684G>T
c.2176G>T (p.Glu726Ter)
n.2669G>T
20g.3228869C=CA2346475212SLC4A11c.2161G= (p.Glu721=)
c.2092G= (p.Glu698=)
c.2032G= (p.Glu678=)
c.2047G= (p.Glu683=)
c.2209G= (p.Glu737=)
c.2290G= (p.Glu764=)
c.*309G= (n.*309G=)
c.2530G= (p.Glu844=)
c.2104G= (p.Glu702=)
c.2128G= (p.Glu710=)
n.2259G=
c.2524G= (p.Glu842=)
n.2704G=
n.2684G=
c.2176G= (p.Glu726=)
n.2669G=
20g.3228869C>GCA408086813SLC4A11c.2161G>C (p.Glu721Gln)
c.2092G>C (p.Glu698Gln)
c.2032G>C (p.Glu678Gln)
c.2047G>C (p.Glu683Gln)
c.2209G>C (p.Glu737Gln)
c.2290G>C (p.Glu764Gln)
c.*309G>C (n.*309G>C)
c.2530G>C (p.Glu844Gln)
c.2104G>C (p.Glu702Gln)
c.2128G>C (p.Glu710Gln)
n.2259G>C
c.2524G>C (p.Glu842Gln)
n.2704G>C
n.2684G>C
c.2176G>C (p.Glu726Gln)
n.2669G>C
20g.3228869C>TCA408086816SLC4A11c.2161G>A (p.Glu721Lys)
c.2092G>A (p.Glu698Lys)
c.2032G>A (p.Glu678Lys)
c.2047G>A (p.Glu683Lys)
c.2209G>A (p.Glu737Lys)
c.2290G>A (p.Glu764Lys)
c.*309G>A (n.*309G>A)
c.2530G>A (p.Glu844Lys)
c.2104G>A (p.Glu702Lys)
c.2128G>A (p.Glu710Lys)
n.2259G>A
c.2524G>A (p.Glu842Lys)
n.2704G>A
n.2684G>A
c.2176G>A (p.Glu726Lys)
n.2669G>A
 dbSNP gnomAD v2
20g.3228870C>ACA408086818SLC4A11c.2160G>T (p.Glu720Asp)
c.2091G>T (p.Glu697Asp)
c.2031G>T (p.Glu677Asp)
c.2046G>T (p.Glu682Asp)
c.2208G>T (p.Glu736Asp)
c.2289G>T (p.Glu763Asp)
c.*308G>T (n.*308G>T)
c.2529G>T (p.Glu843Asp)
c.2103G>T (p.Glu701Asp)
c.2127G>T (p.Glu709Asp)
n.2258G>T
c.2523G>T (p.Glu841Asp)
n.2703G>T
n.2683G>T
c.2175G>T (p.Glu725Asp)
n.2668G>T
20g.3228870C=CA2346475213SLC4A11c.2160G= (p.Glu720=)
c.2091G= (p.Glu697=)
c.2031G= (p.Glu677=)
c.2046G= (p.Glu682=)
c.2208G= (p.Glu736=)
c.2289G= (p.Glu763=)
c.*308G= (n.*308G=)
c.2529G= (p.Glu843=)
c.2103G= (p.Glu701=)
c.2127G= (p.Glu709=)
n.2258G=
c.2523G= (p.Glu841=)
n.2703G=
n.2683G=
c.2175G= (p.Glu725=)
n.2668G=
20g.3228870C>GCA408086819SLC4A11c.2160G>C (p.Glu720Asp)
c.2091G>C (p.Glu697Asp)
c.2031G>C (p.Glu677Asp)
c.2046G>C (p.Glu682Asp)
c.2208G>C (p.Glu736Asp)
c.2289G>C (p.Glu763Asp)
c.*308G>C (n.*308G>C)
c.2529G>C (p.Glu843Asp)
c.2103G>C (p.Glu701Asp)
c.2127G>C (p.Glu709Asp)
n.2258G>C
c.2523G>C (p.Glu841Asp)
n.2703G>C
n.2683G>C
c.2175G>C (p.Glu725Asp)
n.2668G>C
 gnomAD v4
20g.3228870C>TCA509558168SLC4A11c.2160G>A (p.Glu720=)
c.2091G>A (p.Glu697=)
c.2031G>A (p.Glu677=)
c.2046G>A (p.Glu682=)
c.2208G>A (p.Glu736=)
c.2289G>A (p.Glu763=)
c.*308G>A (n.*308G>A)
c.2529G>A (p.Glu843=)
c.2103G>A (p.Glu701=)
c.2127G>A (p.Glu709=)
n.2258G>A
c.2523G>A (p.Glu841=)
n.2703G>A
n.2683G>A
c.2175G>A (p.Glu725=)
n.2668G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.3228871T>ACA408086821SLC4A11c.2159A>T (p.Glu720Val)
c.2090A>T (p.Glu697Val)
c.2030A>T (p.Glu677Val)
c.2045A>T (p.Glu682Val)
c.2207A>T (p.Glu736Val)
c.2288A>T (p.Glu763Val)
c.*307A>T (n.*307A>T)
c.2528A>T (p.Glu843Val)
c.2102A>T (p.Glu701Val)
c.2126A>T (p.Glu709Val)
n.2257A>T
c.2522A>T (p.Glu841Val)
n.2702A>T
n.2682A>T
c.2174A>T (p.Glu725Val)
n.2667A>T
20g.3228871T>CCA310985850SLC4A11c.2159A>G (p.Glu720Gly)
c.2090A>G (p.Glu697Gly)
c.2030A>G (p.Glu677Gly)
c.2045A>G (p.Glu682Gly)
c.2207A>G (p.Glu736Gly)
c.2288A>G (p.Glu763Gly)
c.*307A>G (n.*307A>G)
c.2528A>G (p.Glu843Gly)
c.2102A>G (p.Glu701Gly)
c.2126A>G (p.Glu709Gly)
n.2257A>G
c.2522A>G (p.Glu841Gly)
n.2702A>G
n.2682A>G
c.2174A>G (p.Glu725Gly)
n.2667A>G
 dbSNP gnomAD v2 gnomAD v4
20g.3228871T>GCA408086824SLC4A11c.2159A>C (p.Glu720Ala)
c.2090A>C (p.Glu697Ala)
c.2030A>C (p.Glu677Ala)
c.2045A>C (p.Glu682Ala)
c.2207A>C (p.Glu736Ala)
c.2288A>C (p.Glu763Ala)
c.*307A>C (n.*307A>C)
c.2528A>C (p.Glu843Ala)
c.2102A>C (p.Glu701Ala)
c.2126A>C (p.Glu709Ala)
n.2257A>C
c.2522A>C (p.Glu841Ala)
n.2702A>C
n.2682A>C
c.2174A>C (p.Glu725Ala)
n.2667A>C
20g.3228871T=CA2346475214SLC4A11c.2159A= (p.Glu720=)
c.2090A= (p.Glu697=)
c.2030A= (p.Glu677=)
c.2045A= (p.Glu682=)
c.2207A= (p.Glu736=)
c.2288A= (p.Glu763=)
c.*307A= (n.*307A=)
c.2528A= (p.Glu843=)
c.2102A= (p.Glu701=)
c.2126A= (p.Glu709=)
n.2257A=
c.2522A= (p.Glu841=)
n.2702A=
n.2682A=
c.2174A= (p.Glu725=)
n.2667A=
20g.3228872C>ACA408086827SLC4A11c.2158G>T (p.Glu720Ter)
c.2089G>T (p.Glu697Ter)
c.2029G>T (p.Glu677Ter)
c.2044G>T (p.Glu682Ter)
c.2206G>T (p.Glu736Ter)
c.2287G>T (p.Glu763Ter)
c.*306G>T (n.*306G>T)
c.2527G>T (p.Glu843Ter)
c.2101G>T (p.Glu701Ter)
c.2125G>T (p.Glu709Ter)
n.2256G>T
c.2521G>T (p.Glu841Ter)
n.2701G>T
n.2681G>T
c.2173G>T (p.Glu725Ter)
n.2666G>T
 ClinVar dbSNP
20g.3228872C=CA2346475215SLC4A11c.2158G= (p.Glu720=)
c.2089G= (p.Glu697=)
c.2029G= (p.Glu677=)
c.2044G= (p.Glu682=)
c.2206G= (p.Glu736=)
c.2287G= (p.Glu763=)
c.*306G= (n.*306G=)
c.2527G= (p.Glu843=)
c.2101G= (p.Glu701=)
c.2125G= (p.Glu709=)
n.2256G=
c.2521G= (p.Glu841=)
n.2701G=
n.2681G=
c.2173G= (p.Glu725=)
n.2666G=
20g.3228872C>GCA408086829SLC4A11c.2158G>C (p.Glu720Gln)
c.2089G>C (p.Glu697Gln)
c.2029G>C (p.Glu677Gln)
c.2044G>C (p.Glu682Gln)
c.2206G>C (p.Glu736Gln)
c.2287G>C (p.Glu763Gln)
c.*306G>C (n.*306G>C)
c.2527G>C (p.Glu843Gln)
c.2101G>C (p.Glu701Gln)
c.2125G>C (p.Glu709Gln)
n.2256G>C
c.2521G>C (p.Glu841Gln)
n.2701G>C
n.2681G>C
c.2173G>C (p.Glu725Gln)
n.2666G>C
 gnomAD v4
20g.3228872C>TCA408086832SLC4A11c.2158G>A (p.Glu720Lys)
c.2089G>A (p.Glu697Lys)
c.2029G>A (p.Glu677Lys)
c.2044G>A (p.Glu682Lys)
c.2206G>A (p.Glu736Lys)
c.2287G>A (p.Glu763Lys)
c.*306G>A (n.*306G>A)
c.2527G>A (p.Glu843Lys)
c.2101G>A (p.Glu701Lys)
c.2125G>A (p.Glu709Lys)
n.2256G>A
c.2521G>A (p.Glu841Lys)
n.2701G>A
n.2681G>A
c.2173G>A (p.Glu725Lys)
n.2666G>A
 gnomAD v4
20g.3228873C>ACA509558171SLC4A11c.2157G>T (p.Val719=)
c.2088G>T (p.Val696=)
c.2028G>T (p.Val676=)
c.2043G>T (p.Val681=)
c.2205G>T (p.Val735=)
c.2286G>T (p.Val762=)
c.*305G>T (n.*305G>T)
c.2526G>T (p.Val842=)
c.2100G>T (p.Val700=)
c.2124G>T (p.Val708=)
n.2255G>T
c.2520G>T (p.Val840=)
n.2700G>T
n.2680G>T
c.2172G>T (p.Val724=)
n.2665G>T
20g.3228873C=CA2346475216SLC4A11c.2157G= (p.Val719=)
c.2088G= (p.Val696=)
c.2028G= (p.Val676=)
c.2043G= (p.Val681=)
c.2205G= (p.Val735=)
c.2286G= (p.Val762=)
c.*305G= (n.*305G=)
c.2526G= (p.Val842=)
c.2100G= (p.Val700=)
c.2124G= (p.Val708=)
n.2255G=
c.2520G= (p.Val840=)
n.2700G=
n.2680G=
c.2172G= (p.Val724=)
n.2665G=
20g.3228873C>GCA509558173SLC4A11c.2157G>C (p.Val719=)
c.2088G>C (p.Val696=)
c.2028G>C (p.Val676=)
c.2043G>C (p.Val681=)
c.2205G>C (p.Val735=)
c.2286G>C (p.Val762=)
c.*305G>C (n.*305G>C)
c.2526G>C (p.Val842=)
c.2100G>C (p.Val700=)
c.2124G>C (p.Val708=)
n.2255G>C
c.2520G>C (p.Val840=)
n.2700G>C
n.2680G>C
c.2172G>C (p.Val724=)
n.2665G>C
20g.3228873C>TCA509558172SLC4A11c.2157G>A (p.Val719=)
c.2088G>A (p.Val696=)
c.2028G>A (p.Val676=)
c.2043G>A (p.Val681=)
c.2205G>A (p.Val735=)
c.2286G>A (p.Val762=)
c.*305G>A (n.*305G>A)
c.2526G>A (p.Val842=)
c.2100G>A (p.Val700=)
c.2124G>A (p.Val708=)
n.2255G>A
c.2520G>A (p.Val840=)
n.2700G>A
n.2680G>A
c.2172G>A (p.Val724=)
n.2665G>A
 dbSNP gnomAD v3 gnomAD v4
20g.3228874A>CCA408086834SLC4A11c.2156T>G (p.Val719Gly)
c.2087T>G (p.Val696Gly)
c.2027T>G (p.Val676Gly)
c.2042T>G (p.Val681Gly)
c.2204T>G (p.Val735Gly)
c.2285T>G (p.Val762Gly)
c.*304T>G (n.*304T>G)
c.2525T>G (p.Val842Gly)
c.2099T>G (p.Val700Gly)
c.2123T>G (p.Val708Gly)
n.2254T>G
c.2519T>G (p.Val840Gly)
n.2699T>G
n.2679T>G
c.2171T>G (p.Val724Gly)
n.2664T>G
20g.3228874A>GCA408086837SLC4A11c.2156T>C (p.Val719Ala)
c.2087T>C (p.Val696Ala)
c.2027T>C (p.Val676Ala)
c.2042T>C (p.Val681Ala)
c.2204T>C (p.Val735Ala)
c.2285T>C (p.Val762Ala)
c.*304T>C (n.*304T>C)
c.2525T>C (p.Val842Ala)
c.2099T>C (p.Val700Ala)
c.2123T>C (p.Val708Ala)
n.2254T>C
c.2519T>C (p.Val840Ala)
n.2699T>C
n.2679T>C
c.2171T>C (p.Val724Ala)
n.2664T>C
20g.3228874A>TCA408086839SLC4A11c.2156T>A (p.Val719Glu)
c.2087T>A (p.Val696Glu)
c.2027T>A (p.Val676Glu)
c.2042T>A (p.Val681Glu)
c.2204T>A (p.Val735Glu)
c.2285T>A (p.Val762Glu)
c.*304T>A (n.*304T>A)
c.2525T>A (p.Val842Glu)
c.2099T>A (p.Val700Glu)
c.2123T>A (p.Val708Glu)
n.2254T>A
c.2519T>A (p.Val840Glu)
n.2699T>A
n.2679T>A
c.2171T>A (p.Val724Glu)
n.2664T>A
20g.3228875C>ACA408086846SLC4A11c.2155G>T (p.Val719Leu)
c.2086G>T (p.Val696Leu)
c.2026G>T (p.Val676Leu)
c.2041G>T (p.Val681Leu)
c.2203G>T (p.Val735Leu)
c.2284G>T (p.Val762Leu)
c.*303G>T (n.*303G>T)
c.2524G>T (p.Val842Leu)
c.2098G>T (p.Val700Leu)
c.2122G>T (p.Val708Leu)
n.2253G>T
c.2518G>T (p.Val840Leu)
n.2698G>T
n.2678G>T
c.2170G>T (p.Val724Leu)
n.2663G>T
20g.3228875C>GCA408086844SLC4A11c.2155G>C (p.Val719Leu)
c.2086G>C (p.Val696Leu)
c.2026G>C (p.Val676Leu)
c.2041G>C (p.Val681Leu)
c.2203G>C (p.Val735Leu)
c.2284G>C (p.Val762Leu)
c.*303G>C (n.*303G>C)
c.2524G>C (p.Val842Leu)
c.2098G>C (p.Val700Leu)
c.2122G>C (p.Val708Leu)
n.2253G>C
c.2518G>C (p.Val840Leu)
n.2698G>C
n.2678G>C
c.2170G>C (p.Val724Leu)
n.2663G>C
20g.3228875C>TCA408086842SLC4A11c.2155G>A (p.Val719Met)
c.2086G>A (p.Val696Met)
c.2026G>A (p.Val676Met)
c.2041G>A (p.Val681Met)
c.2203G>A (p.Val735Met)
c.2284G>A (p.Val762Met)
c.*303G>A (n.*303G>A)
c.2524G>A (p.Val842Met)
c.2098G>A (p.Val700Met)
c.2122G>A (p.Val708Met)
n.2253G>A
c.2518G>A (p.Val840Met)
n.2698G>A
n.2678G>A
c.2170G>A (p.Val724Met)
n.2663G>A
20g.3228876T>ACA408086847SLC4A11c.2154A>T (p.Leu718Phe)
c.2085A>T (p.Leu695Phe)
c.2025A>T (p.Leu675Phe)
c.2040A>T (p.Leu680Phe)
c.2202A>T (p.Leu734Phe)
c.2283A>T (p.Leu761Phe)
c.*302A>T (n.*302A>T)
c.2523A>T (p.Leu841Phe)
c.2097A>T (p.Leu699Phe)
c.2121A>T (p.Leu707Phe)
n.2252A>T
c.2517A>T (p.Leu839Phe)
n.2697A>T
n.2677A>T
c.2169A>T (p.Leu723Phe)
n.2662A>T
20g.3228876T>CCA509558176SLC4A11c.2154A>G (p.Leu718=)
c.2085A>G (p.Leu695=)
c.2025A>G (p.Leu675=)
c.2040A>G (p.Leu680=)
c.2202A>G (p.Leu734=)
c.2283A>G (p.Leu761=)
c.*302A>G (n.*302A>G)
c.2523A>G (p.Leu841=)
c.2097A>G (p.Leu699=)
c.2121A>G (p.Leu707=)
n.2252A>G
c.2517A>G (p.Leu839=)
n.2697A>G
n.2677A>G
c.2169A>G (p.Leu723=)
n.2662A>G
 ClinVar
20g.3228876T>GCA408086849SLC4A11c.2154A>C (p.Leu718Phe)
c.2085A>C (p.Leu695Phe)
c.2025A>C (p.Leu675Phe)
c.2040A>C (p.Leu680Phe)
c.2202A>C (p.Leu734Phe)
c.2283A>C (p.Leu761Phe)
c.*302A>C (n.*302A>C)
c.2523A>C (p.Leu841Phe)
c.2097A>C (p.Leu699Phe)
c.2121A>C (p.Leu707Phe)
n.2252A>C
c.2517A>C (p.Leu839Phe)
n.2697A>C
n.2677A>C
c.2169A>C (p.Leu723Phe)
n.2662A>C
20g.3228877A>CCA408086851SLC4A11c.2153T>G (p.Leu718Ter)
c.2084T>G (p.Leu695Ter)
c.2024T>G (p.Leu675Ter)
c.2039T>G (p.Leu680Ter)
c.2201T>G (p.Leu734Ter)
c.2282T>G (p.Leu761Ter)
c.*301T>G (n.*301T>G)
c.2522T>G (p.Leu841Ter)
c.2096T>G (p.Leu699Ter)
c.2120T>G (p.Leu707Ter)
n.2251T>G
c.2516T>G (p.Leu839Ter)
n.2696T>G
n.2676T>G
c.2168T>G (p.Leu723Ter)
n.2661T>G
20g.3228877A>GCA408086852SLC4A11c.2153T>C (p.Leu718Ser)
c.2084T>C (p.Leu695Ser)
c.2024T>C (p.Leu675Ser)
c.2039T>C (p.Leu680Ser)
c.2201T>C (p.Leu734Ser)
c.2282T>C (p.Leu761Ser)
c.*301T>C (n.*301T>C)
c.2522T>C (p.Leu841Ser)
c.2096T>C (p.Leu699Ser)
c.2120T>C (p.Leu707Ser)
n.2251T>C
c.2516T>C (p.Leu839Ser)
n.2696T>C
n.2676T>C
c.2168T>C (p.Leu723Ser)
n.2661T>C
20g.3228877A>TCA408086855SLC4A11c.2153T>A (p.Leu718Ter)
c.2084T>A (p.Leu695Ter)
c.2024T>A (p.Leu675Ter)
c.2039T>A (p.Leu680Ter)
c.2201T>A (p.Leu734Ter)
c.2282T>A (p.Leu761Ter)
c.*301T>A (n.*301T>A)
c.2522T>A (p.Leu841Ter)
c.2096T>A (p.Leu699Ter)
c.2120T>A (p.Leu707Ter)
n.2251T>A
c.2516T>A (p.Leu839Ter)
n.2696T>A
n.2676T>A
c.2168T>A (p.Leu723Ter)
n.2661T>A
20g.3228878A>CCA408086858SLC4A11c.2152T>G (p.Leu718Val)
c.2083T>G (p.Leu695Val)
c.2023T>G (p.Leu675Val)
c.2038T>G (p.Leu680Val)
c.2200T>G (p.Leu734Val)
c.2281T>G (p.Leu761Val)
c.*300T>G (n.*300T>G)
c.2521T>G (p.Leu841Val)
c.2095T>G (p.Leu699Val)
c.2119T>G (p.Leu707Val)
n.2250T>G
c.2515T>G (p.Leu839Val)
n.2695T>G
n.2675T>G
c.2167T>G (p.Leu723Val)
n.2660T>G
20g.3228878A>GCA509558177SLC4A11c.2152T>C (p.Leu718=)
c.2083T>C (p.Leu695=)
c.2023T>C (p.Leu675=)
c.2038T>C (p.Leu680=)
c.2200T>C (p.Leu734=)
c.2281T>C (p.Leu761=)
c.*300T>C (n.*300T>C)
c.2521T>C (p.Leu841=)
c.2095T>C (p.Leu699=)
c.2119T>C (p.Leu707=)
n.2250T>C
c.2515T>C (p.Leu839=)
n.2695T>C
n.2675T>C
c.2167T>C (p.Leu723=)
n.2660T>C
20g.3228878A>TCA408086860SLC4A11c.2152T>A (p.Leu718Ile)
c.2083T>A (p.Leu695Ile)
c.2023T>A (p.Leu675Ile)
c.2038T>A (p.Leu680Ile)
c.2200T>A (p.Leu734Ile)
c.2281T>A (p.Leu761Ile)
c.*300T>A (n.*300T>A)
c.2521T>A (p.Leu841Ile)
c.2095T>A (p.Leu699Ile)
c.2119T>A (p.Leu707Ile)
n.2250T>A
c.2515T>A (p.Leu839Ile)
n.2695T>A
n.2675T>A
c.2167T>A (p.Leu723Ile)
n.2660T>A
20g.3228879G>ACA509558178SLC4A11c.2151C>T (p.Ala717=)
c.2082C>T (p.Ala694=)
c.2022C>T (p.Ala674=)
c.2037C>T (p.Ala679=)
c.2199C>T (p.Ala733=)
c.2280C>T (p.Ala760=)
c.*299C>T (n.*299C>T)
c.2520C>T (p.Ala840=)
c.2094C>T (p.Ala698=)
c.2118C>T (p.Ala706=)
n.2249C>T
c.2514C>T (p.Ala838=)
n.2694C>T
n.2674C>T
c.2166C>T (p.Ala722=)
n.2659C>T
 gnomAD v4
20g.3228879G>CCA9741574SLC4A11c.2151C>G (p.Ala717=)
c.2082C>G (p.Ala694=)
c.2022C>G (p.Ala674=)
c.2037C>G (p.Ala679=)
c.2199C>G (p.Ala733=)
c.2280C>G (p.Ala760=)
c.*299C>G (n.*299C>G)
c.2520C>G (p.Ala840=)
c.2094C>G (p.Ala698=)
c.2118C>G (p.Ala706=)
n.2249C>G
c.2514C>G (p.Ala838=)
n.2694C>G
n.2674C>G
c.2166C>G (p.Ala722=)
n.2659C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228879G=CA2346475217SLC4A11c.2151C= (p.Ala717=)
c.2082C= (p.Ala694=)
c.2022C= (p.Ala674=)
c.2037C= (p.Ala679=)
c.2199C= (p.Ala733=)
c.2280C= (p.Ala760=)
c.*299C= (n.*299C=)
c.2520C= (p.Ala840=)
c.2094C= (p.Ala698=)
c.2118C= (p.Ala706=)
n.2249C=
c.2514C= (p.Ala838=)
n.2694C=
n.2674C=
c.2166C= (p.Ala722=)
n.2659C=
20g.3228879G>TCA9741575SLC4A11c.2151C>A (p.Ala717=)
c.2082C>A (p.Ala694=)
c.2022C>A (p.Ala674=)
c.2037C>A (p.Ala679=)
c.2199C>A (p.Ala733=)
c.2280C>A (p.Ala760=)
c.*299C>A (n.*299C>A)
c.2520C>A (p.Ala840=)
c.2094C>A (p.Ala698=)
c.2118C>A (p.Ala706=)
n.2249C>A
c.2514C>A (p.Ala838=)
n.2694C>A
n.2674C>A
c.2166C>A (p.Ala722=)
n.2659C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228880G>ACA408086866SLC4A11c.2150C>T (p.Ala717Val)
c.2081C>T (p.Ala694Val)
c.2021C>T (p.Ala674Val)
c.2036C>T (p.Ala679Val)
c.2198C>T (p.Ala733Val)
c.2279C>T (p.Ala760Val)
c.*298C>T (n.*298C>T)
c.2519C>T (p.Ala840Val)
c.2093C>T (p.Ala698Val)
c.2117C>T (p.Ala706Val)
n.2248C>T
c.2513C>T (p.Ala838Val)
n.2693C>T
n.2673C>T
c.2165C>T (p.Ala722Val)
n.2658C>T
20g.3228880G>CCA408086868SLC4A11c.2150C>G (p.Ala717Gly)
c.2081C>G (p.Ala694Gly)
c.2021C>G (p.Ala674Gly)
c.2036C>G (p.Ala679Gly)
c.2198C>G (p.Ala733Gly)
c.2279C>G (p.Ala760Gly)
c.*298C>G (n.*298C>G)
c.2519C>G (p.Ala840Gly)
c.2093C>G (p.Ala698Gly)
c.2117C>G (p.Ala706Gly)
n.2248C>G
c.2513C>G (p.Ala838Gly)
n.2693C>G
n.2673C>G
c.2165C>G (p.Ala722Gly)
n.2658C>G
20g.3228880G>TCA408086870SLC4A11c.2150C>A (p.Ala717Asp)
c.2081C>A (p.Ala694Asp)
c.2021C>A (p.Ala674Asp)
c.2036C>A (p.Ala679Asp)
c.2198C>A (p.Ala733Asp)
c.2279C>A (p.Ala760Asp)
c.*298C>A (n.*298C>A)
c.2519C>A (p.Ala840Asp)
c.2093C>A (p.Ala698Asp)
c.2117C>A (p.Ala706Asp)
n.2248C>A
c.2513C>A (p.Ala838Asp)
n.2693C>A
n.2673C>A
c.2165C>A (p.Ala722Asp)
n.2658C>A
20g.3228881C>ACA408086876SLC4A11c.2149G>T (p.Ala717Ser)
c.2080G>T (p.Ala694Ser)
c.2020G>T (p.Ala674Ser)
c.2035G>T (p.Ala679Ser)
c.2197G>T (p.Ala733Ser)
c.2278G>T (p.Ala760Ser)
c.*297G>T (n.*297G>T)
c.2518G>T (p.Ala840Ser)
c.2092G>T (p.Ala698Ser)
c.2116G>T (p.Ala706Ser)
n.2247G>T
c.2512G>T (p.Ala838Ser)
n.2692G>T
n.2672G>T
c.2164G>T (p.Ala722Ser)
n.2657G>T
20g.3228881C>GCA408086878SLC4A11c.2149G>C (p.Ala717Pro)
c.2080G>C (p.Ala694Pro)
c.2020G>C (p.Ala674Pro)
c.2035G>C (p.Ala679Pro)
c.2197G>C (p.Ala733Pro)
c.2278G>C (p.Ala760Pro)
c.*297G>C (n.*297G>C)
c.2518G>C (p.Ala840Pro)
c.2092G>C (p.Ala698Pro)
c.2116G>C (p.Ala706Pro)
n.2247G>C
c.2512G>C (p.Ala838Pro)
n.2692G>C
n.2672G>C
c.2164G>C (p.Ala722Pro)
n.2657G>C
20g.3228881C>TCA408086873SLC4A11c.2149G>A (p.Ala717Thr)
c.2080G>A (p.Ala694Thr)
c.2020G>A (p.Ala674Thr)
c.2035G>A (p.Ala679Thr)
c.2197G>A (p.Ala733Thr)
c.2278G>A (p.Ala760Thr)
c.*297G>A (n.*297G>A)
c.2518G>A (p.Ala840Thr)
c.2092G>A (p.Ala698Thr)
c.2116G>A (p.Ala706Thr)
n.2247G>A
c.2512G>A (p.Ala838Thr)
n.2692G>A
n.2672G>A
c.2164G>A (p.Ala722Thr)
n.2657G>A
20g.3228882C>ACA9741576SLC4A11c.2148G>T (p.Leu716=)
c.2079G>T (p.Leu693=)
c.2019G>T (p.Leu673=)
c.2034G>T (p.Leu678=)
c.2196G>T (p.Leu732=)
c.2277G>T (p.Leu759=)
c.*296G>T (n.*296G>T)
c.2517G>T (p.Leu839=)
c.2091G>T (p.Leu697=)
c.2115G>T (p.Leu705=)
n.2246G>T
c.2511G>T (p.Leu837=)
n.2691G>T
n.2671G>T
c.2163G>T (p.Leu721=)
n.2656G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228882C=CA2346475218SLC4A11c.2148G= (p.Leu716=)
c.2079G= (p.Leu693=)
c.2019G= (p.Leu673=)
c.2034G= (p.Leu678=)
c.2196G= (p.Leu732=)
c.2277G= (p.Leu759=)
c.*296G= (n.*296G=)
c.2517G= (p.Leu839=)
c.2091G= (p.Leu697=)
c.2115G= (p.Leu705=)
n.2246G=
c.2511G= (p.Leu837=)
n.2691G=
n.2671G=
c.2163G= (p.Leu721=)
n.2656G=
20g.3228882C>GCA509558180SLC4A11c.2148G>C (p.Leu716=)
c.2079G>C (p.Leu693=)
c.2019G>C (p.Leu673=)
c.2034G>C (p.Leu678=)
c.2196G>C (p.Leu732=)
c.2277G>C (p.Leu759=)
c.*296G>C (n.*296G>C)
c.2517G>C (p.Leu839=)
c.2091G>C (p.Leu697=)
c.2115G>C (p.Leu705=)
n.2246G>C
c.2511G>C (p.Leu837=)
n.2691G>C
n.2671G>C
c.2163G>C (p.Leu721=)
n.2656G>C
20g.3228882C>TCA509558179SLC4A11c.2148G>A (p.Leu716=)
c.2079G>A (p.Leu693=)
c.2019G>A (p.Leu673=)
c.2034G>A (p.Leu678=)
c.2196G>A (p.Leu732=)
c.2277G>A (p.Leu759=)
c.*296G>A (n.*296G>A)
c.2517G>A (p.Leu839=)
c.2091G>A (p.Leu697=)
c.2115G>A (p.Leu705=)
n.2246G>A
c.2511G>A (p.Leu837=)
n.2691G>A
n.2671G>A
c.2163G>A (p.Leu721=)
n.2656G>A
20g.3228883A>CCA408086883SLC4A11c.2147T>G (p.Leu716Arg)
c.2078T>G (p.Leu693Arg)
c.2018T>G (p.Leu673Arg)
c.2033T>G (p.Leu678Arg)
c.2195T>G (p.Leu732Arg)
c.2276T>G (p.Leu759Arg)
c.*295T>G (n.*295T>G)
c.2516T>G (p.Leu839Arg)
c.2090T>G (p.Leu697Arg)
c.2114T>G (p.Leu705Arg)
n.2245T>G
c.2510T>G (p.Leu837Arg)
n.2690T>G
n.2670T>G
c.2162T>G (p.Leu721Arg)
n.2655T>G
20g.3228883A>GCA408086885SLC4A11c.2147T>C (p.Leu716Pro)
c.2078T>C (p.Leu693Pro)
c.2018T>C (p.Leu673Pro)
c.2033T>C (p.Leu678Pro)
c.2195T>C (p.Leu732Pro)
c.2276T>C (p.Leu759Pro)
c.*295T>C (n.*295T>C)
c.2516T>C (p.Leu839Pro)
c.2090T>C (p.Leu697Pro)
c.2114T>C (p.Leu705Pro)
n.2245T>C
c.2510T>C (p.Leu837Pro)
n.2690T>C
n.2670T>C
c.2162T>C (p.Leu721Pro)
n.2655T>C
20g.3228883A>TCA408086887SLC4A11c.2147T>A (p.Leu716Gln)
c.2078T>A (p.Leu693Gln)
c.2018T>A (p.Leu673Gln)
c.2033T>A (p.Leu678Gln)
c.2195T>A (p.Leu732Gln)
c.2276T>A (p.Leu759Gln)
c.*295T>A (n.*295T>A)
c.2516T>A (p.Leu839Gln)
c.2090T>A (p.Leu697Gln)
c.2114T>A (p.Leu705Gln)
n.2245T>A
c.2510T>A (p.Leu837Gln)
n.2690T>A
n.2670T>A
c.2162T>A (p.Leu721Gln)
n.2655T>A
20g.3228883dupCA2695229231SLC4A11c.2147dup (p.Ala717GlyfsTer14)
c.2078dup (p.Ala694GlyfsTer14)
c.2018dup (p.Ala674GlyfsTer14)
c.2033dup (p.Ala679GlyfsTer14)
c.2195dup (p.Ala733GlyfsTer14)
c.2276dup (p.Ala760GlyfsTer14)
c.*295dup (n.*295dup)
c.2516dup (p.Ala840GlyfsTer14)
c.2090dup (p.Ala698GlyfsTer14)
c.2114dup (p.Ala706GlyfsTer14)
n.2245dup
c.2510dup (p.Ala838GlyfsTer14)
n.2690dup
n.2670dup
c.2162dup (p.Ala722GlyfsTer14)
n.2655dup
20g.3228884G>ACA509558181SLC4A11c.2146C>T (p.Leu716=)
c.2077C>T (p.Leu693=)
c.2017C>T (p.Leu673=)
c.2032C>T (p.Leu678=)
c.2194C>T (p.Leu732=)
c.2275C>T (p.Leu759=)
c.*294C>T (n.*294C>T)
c.2515C>T (p.Leu839=)
c.2089C>T (p.Leu697=)
c.2113C>T (p.Leu705=)
n.2244C>T
c.2509C>T (p.Leu837=)
n.2689C>T
n.2669C>T
c.2161C>T (p.Leu721=)
n.2654C>T
 ClinVar
20g.3228884G>CCA408086889SLC4A11c.2146C>G (p.Leu716Val)
c.2077C>G (p.Leu693Val)
c.2017C>G (p.Leu673Val)
c.2032C>G (p.Leu678Val)
c.2194C>G (p.Leu732Val)
c.2275C>G (p.Leu759Val)
c.*294C>G (n.*294C>G)
c.2515C>G (p.Leu839Val)
c.2089C>G (p.Leu697Val)
c.2113C>G (p.Leu705Val)
n.2244C>G
c.2509C>G (p.Leu837Val)
n.2689C>G
n.2669C>G
c.2161C>G (p.Leu721Val)
n.2654C>G
20g.3228884G>TCA408086891SLC4A11c.2146C>A (p.Leu716Met)
c.2077C>A (p.Leu693Met)
c.2017C>A (p.Leu673Met)
c.2032C>A (p.Leu678Met)
c.2194C>A (p.Leu732Met)
c.2275C>A (p.Leu759Met)
c.*294C>A (n.*294C>A)
c.2515C>A (p.Leu839Met)
c.2089C>A (p.Leu697Met)
c.2113C>A (p.Leu705Met)
n.2244C>A
c.2509C>A (p.Leu837Met)
n.2689C>A
n.2669C>A
c.2161C>A (p.Leu721Met)
n.2654C>A
20g.3228885G>ACA9741577SLC4A11c.2145C>T (p.Ala715=)
c.2076C>T (p.Ala692=)
c.2016C>T (p.Ala672=)
c.2031C>T (p.Ala677=)
c.2193C>T (p.Ala731=)
c.2274C>T (p.Ala758=)
c.*293C>T (n.*293C>T)
c.2514C>T (p.Ala838=)
c.2088C>T (p.Ala696=)
c.2112C>T (p.Ala704=)
n.2243C>T
c.2508C>T (p.Ala836=)
n.2688C>T
n.2668C>T
c.2160C>T (p.Ala720=)
n.2653C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228885G>CCA509558183SLC4A11c.2145C>G (p.Ala715=)
c.2076C>G (p.Ala692=)
c.2016C>G (p.Ala672=)
c.2031C>G (p.Ala677=)
c.2193C>G (p.Ala731=)
c.2274C>G (p.Ala758=)
c.*293C>G (n.*293C>G)
c.2514C>G (p.Ala838=)
c.2088C>G (p.Ala696=)
c.2112C>G (p.Ala704=)
n.2243C>G
c.2508C>G (p.Ala836=)
n.2688C>G
n.2668C>G
c.2160C>G (p.Ala720=)
n.2653C>G
20g.3228885G=CA2346475219SLC4A11c.2145C= (p.Ala715=)
c.2076C= (p.Ala692=)
c.2016C= (p.Ala672=)
c.2031C= (p.Ala677=)
c.2193C= (p.Ala731=)
c.2274C= (p.Ala758=)
c.*293C= (n.*293C=)
c.2514C= (p.Ala838=)
c.2088C= (p.Ala696=)
c.2112C= (p.Ala704=)
n.2243C=
c.2508C= (p.Ala836=)
n.2688C=
n.2668C=
c.2160C= (p.Ala720=)
n.2653C=
20g.3228885G>TCA509558184SLC4A11c.2145C>A (p.Ala715=)
c.2076C>A (p.Ala692=)
c.2016C>A (p.Ala672=)
c.2031C>A (p.Ala677=)
c.2193C>A (p.Ala731=)
c.2274C>A (p.Ala758=)
c.*293C>A (n.*293C>A)
c.2514C>A (p.Ala838=)
c.2088C>A (p.Ala696=)
c.2112C>A (p.Ala704=)
n.2243C>A
c.2508C>A (p.Ala836=)
n.2688C>A
n.2668C>A
c.2160C>A (p.Ala720=)
n.2653C>A
20g.3228886G>ACA408086897SLC4A11c.2144C>T (p.Ala715Val)
c.2075C>T (p.Ala692Val)
c.2015C>T (p.Ala672Val)
c.2030C>T (p.Ala677Val)
c.2192C>T (p.Ala731Val)
c.2273C>T (p.Ala758Val)
c.*292C>T (n.*292C>T)
c.2513C>T (p.Ala838Val)
c.2087C>T (p.Ala696Val)
c.2111C>T (p.Ala704Val)
n.2242C>T
c.2507C>T (p.Ala836Val)
n.2687C>T
n.2667C>T
c.2159C>T (p.Ala720Val)
n.2652C>T
 dbSNP
20g.3228886G>CCA408086899SLC4A11c.2144C>G (p.Ala715Gly)
c.2075C>G (p.Ala692Gly)
c.2015C>G (p.Ala672Gly)
c.2030C>G (p.Ala677Gly)
c.2192C>G (p.Ala731Gly)
c.2273C>G (p.Ala758Gly)
c.*292C>G (n.*292C>G)
c.2513C>G (p.Ala838Gly)
c.2087C>G (p.Ala696Gly)
c.2111C>G (p.Ala704Gly)
n.2242C>G
c.2507C>G (p.Ala836Gly)
n.2687C>G
n.2667C>G
c.2159C>G (p.Ala720Gly)
n.2652C>G
20g.3228886G=CA2346475220SLC4A11c.2144C= (p.Ala715=)
c.2075C= (p.Ala692=)
c.2015C= (p.Ala672=)
c.2030C= (p.Ala677=)
c.2192C= (p.Ala731=)
c.2273C= (p.Ala758=)
c.*292C= (n.*292C=)
c.2513C= (p.Ala838=)
c.2087C= (p.Ala696=)
c.2111C= (p.Ala704=)
n.2242C=
c.2507C= (p.Ala836=)
n.2687C=
n.2667C=
c.2159C= (p.Ala720=)
n.2652C=
20g.3228886G>TCA408086901SLC4A11c.2144C>A (p.Ala715Asp)
c.2075C>A (p.Ala692Asp)
c.2015C>A (p.Ala672Asp)
c.2030C>A (p.Ala677Asp)
c.2192C>A (p.Ala731Asp)
c.2273C>A (p.Ala758Asp)
c.*292C>A (n.*292C>A)
c.2513C>A (p.Ala838Asp)
c.2087C>A (p.Ala696Asp)
c.2111C>A (p.Ala704Asp)
n.2242C>A
c.2507C>A (p.Ala836Asp)
n.2687C>A
n.2667C>A
c.2159C>A (p.Ala720Asp)
n.2652C>A
20g.3228887C>ACA408086904SLC4A11c.2143G>T (p.Ala715Ser)
c.2074G>T (p.Ala692Ser)
c.2014G>T (p.Ala672Ser)
c.2029G>T (p.Ala677Ser)
c.2191G>T (p.Ala731Ser)
c.2272G>T (p.Ala758Ser)
c.*291G>T (n.*291G>T)
c.2512G>T (p.Ala838Ser)
c.2086G>T (p.Ala696Ser)
c.2110G>T (p.Ala704Ser)
n.2241G>T
c.2506G>T (p.Ala836Ser)
n.2686G>T
n.2666G>T
c.2158G>T (p.Ala720Ser)
n.2651G>T
20g.3228887C>GCA408086906SLC4A11c.2143G>C (p.Ala715Pro)
c.2074G>C (p.Ala692Pro)
c.2014G>C (p.Ala672Pro)
c.2029G>C (p.Ala677Pro)
c.2191G>C (p.Ala731Pro)
c.2272G>C (p.Ala758Pro)
c.*291G>C (n.*291G>C)
c.2512G>C (p.Ala838Pro)
c.2086G>C (p.Ala696Pro)
c.2110G>C (p.Ala704Pro)
n.2241G>C
c.2506G>C (p.Ala836Pro)
n.2686G>C
n.2666G>C
c.2158G>C (p.Ala720Pro)
n.2651G>C
20g.3228887C>TCA408086909SLC4A11c.2143G>A (p.Ala715Thr)
c.2074G>A (p.Ala692Thr)
c.2014G>A (p.Ala672Thr)
c.2029G>A (p.Ala677Thr)
c.2191G>A (p.Ala731Thr)
c.2272G>A (p.Ala758Thr)
c.*291G>A (n.*291G>A)
c.2512G>A (p.Ala838Thr)
c.2086G>A (p.Ala696Thr)
c.2110G>A (p.Ala704Thr)
n.2241G>A
c.2506G>A (p.Ala836Thr)
n.2686G>A
n.2666G>A
c.2158G>A (p.Ala720Thr)
n.2651G>A
 gnomAD v4
20g.3228888T>ACA509558185SLC4A11c.2142A>T (p.Arg714=)
c.2073A>T (p.Arg691=)
c.2013A>T (p.Arg671=)
c.2028A>T (p.Arg676=)
c.2190A>T (p.Arg730=)
c.2271A>T (p.Arg757=)
c.*290A>T (n.*290A>T)
c.2511A>T (p.Arg837=)
c.2085A>T (p.Arg695=)
c.2109A>T (p.Arg703=)
n.2240A>T
c.2505A>T (p.Arg835=)
n.2685A>T
n.2665A>T
c.2157A>T (p.Arg719=)
n.2650A>T
20g.3228888T>CCA509558186SLC4A11c.2142A>G (p.Arg714=)
c.2073A>G (p.Arg691=)
c.2013A>G (p.Arg671=)
c.2028A>G (p.Arg676=)
c.2190A>G (p.Arg730=)
c.2271A>G (p.Arg757=)
c.*290A>G (n.*290A>G)
c.2511A>G (p.Arg837=)
c.2085A>G (p.Arg695=)
c.2109A>G (p.Arg703=)
n.2240A>G
c.2505A>G (p.Arg835=)
n.2685A>G
n.2665A>G
c.2157A>G (p.Arg719=)
n.2650A>G
20g.3228888T>GCA509558187SLC4A11c.2142A>C (p.Arg714=)
c.2073A>C (p.Arg691=)
c.2013A>C (p.Arg671=)
c.2028A>C (p.Arg676=)
c.2190A>C (p.Arg730=)
c.2271A>C (p.Arg757=)
c.*290A>C (n.*290A>C)
c.2511A>C (p.Arg837=)
c.2085A>C (p.Arg695=)
c.2109A>C (p.Arg703=)
n.2240A>C
c.2505A>C (p.Arg835=)
n.2685A>C
n.2665A>C
c.2157A>C (p.Arg719=)
n.2650A>C
20g.3228889C>ACA408086915SLC4A11c.2141G>T (p.Arg714Leu)
c.2072G>T (p.Arg691Leu)
c.2012G>T (p.Arg671Leu)
c.2027G>T (p.Arg676Leu)
c.2189G>T (p.Arg730Leu)
c.2270G>T (p.Arg757Leu)
c.*289G>T (n.*289G>T)
c.2510G>T (p.Arg837Leu)
c.2084G>T (p.Arg695Leu)
c.2108G>T (p.Arg703Leu)
n.2239G>T
c.2504G>T (p.Arg835Leu)
n.2684G>T
n.2664G>T
c.2156G>T (p.Arg719Leu)
n.2649G>T
20g.3228889C=CA2346475221SLC4A11c.2141G= (p.Arg714=)
c.2072G= (p.Arg691=)
c.2012G= (p.Arg671=)
c.2027G= (p.Arg676=)
c.2189G= (p.Arg730=)
c.2270G= (p.Arg757=)
c.*289G= (n.*289G=)
c.2510G= (p.Arg837=)
c.2084G= (p.Arg695=)
c.2108G= (p.Arg703=)
n.2239G=
c.2504G= (p.Arg835=)
n.2684G=
n.2664G=
c.2156G= (p.Arg719=)
n.2649G=
20g.3228889C>GCA408086913SLC4A11c.2141G>C (p.Arg714Pro)
c.2072G>C (p.Arg691Pro)
c.2012G>C (p.Arg671Pro)
c.2027G>C (p.Arg676Pro)
c.2189G>C (p.Arg730Pro)
c.2270G>C (p.Arg757Pro)
c.*289G>C (n.*289G>C)
c.2510G>C (p.Arg837Pro)
c.2084G>C (p.Arg695Pro)
c.2108G>C (p.Arg703Pro)
n.2239G>C
c.2504G>C (p.Arg835Pro)
n.2684G>C
n.2664G>C
c.2156G>C (p.Arg719Pro)
n.2649G>C
20g.3228889C>TCA9741578SLC4A11c.2141G>A (p.Arg714Gln)
c.2072G>A (p.Arg691Gln)
c.2012G>A (p.Arg671Gln)
c.2027G>A (p.Arg676Gln)
c.2189G>A (p.Arg730Gln)
c.2270G>A (p.Arg757Gln)
c.*289G>A (n.*289G>A)
c.2510G>A (p.Arg837Gln)
c.2084G>A (p.Arg695Gln)
c.2108G>A (p.Arg703Gln)
n.2239G>A
c.2504G>A (p.Arg835Gln)
n.2684G>A
n.2664G>A
c.2156G>A (p.Arg719Gln)
n.2649G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228889_3228898delinsCGCACGTGCACA2346475222SLC4A11c.2132_2141delinsTGCACGTGCG (p.Leu711=)
c.2063_2072delinsTGCACGTGCG (p.Leu688=)
c.2003_2012delinsTGCACGTGCG (p.Leu668=)
c.2018_2027delinsTGCACGTGCG (p.Leu673=)
c.2180_2189delinsTGCACGTGCG (p.Leu727=)
c.2261_2270delinsTGCACGTGCG (p.Leu754=)
c.*280_*289delinsTGCACGTGCG (n.*280_*289delinsTGCACGTGCG)
c.2501_2510delinsTGCACGTGCG (p.Leu834=)
c.2075_2084delinsTGCACGTGCG (p.Leu692=)
c.2099_2108delinsTGCACGTGCG (p.Leu700=)
n.2230_2239delinsTGCACGTGCG
c.2495_2504delinsTGCACGTGCG (p.Leu832=)
n.2675_2684delinsTGCACGTGCG
n.2655_2664delinsTGCACGTGCG
c.2147_2156delinsTGCACGTGCG (p.Leu716=)
n.2640_2649delinsTGCACGTGCG
20g.3228890delCA2739277020SLC4A11c.2140del (p.Arg714GlufsTer5)
c.2071del (p.Arg691GlufsTer5)
c.2011del (p.Arg671GlufsTer5)
c.2026del (p.Arg676GlufsTer5)
c.2188del (p.Arg730GlufsTer5)
c.2269del (p.Arg757GlufsTer5)
c.*288del (n.*288del)
c.2509del (p.Arg837GlufsTer5)
c.2083del (p.Arg695GlufsTer5)
c.2107del (p.Arg703GlufsTer5)
n.2238del
c.2503del (p.Arg835GlufsTer5)
n.2683del
n.2663del
c.2155del (p.Arg719GlufsTer5)
n.2648del
 ClinVar
20g.3228890G>ACA9741579SLC4A11c.2140C>T (p.Arg714Ter)
c.2071C>T (p.Arg691Ter)
c.2011C>T (p.Arg671Ter)
c.2026C>T (p.Arg676Ter)
c.2188C>T (p.Arg730Ter)
c.2269C>T (p.Arg757Ter)
c.*288C>T (n.*288C>T)
c.2509C>T (p.Arg837Ter)
c.2083C>T (p.Arg695Ter)
c.2107C>T (p.Arg703Ter)
n.2238C>T
c.2503C>T (p.Arg835Ter)
n.2683C>T
n.2663C>T
c.2155C>T (p.Arg719Ter)
n.2648C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.3228890G>CCA408086920SLC4A11c.2140C>G (p.Arg714Gly)
c.2071C>G (p.Arg691Gly)
c.2011C>G (p.Arg671Gly)
c.2026C>G (p.Arg676Gly)
c.2188C>G (p.Arg730Gly)
c.2269C>G (p.Arg757Gly)
c.*288C>G (n.*288C>G)
c.2509C>G (p.Arg837Gly)
c.2083C>G (p.Arg695Gly)
c.2107C>G (p.Arg703Gly)
n.2238C>G
c.2503C>G (p.Arg835Gly)
n.2683C>G
n.2663C>G
c.2155C>G (p.Arg719Gly)
n.2648C>G
 gnomAD v4
20g.3228890G=CA2346475224SLC4A11c.2140C= (p.Arg714=)
c.2071C= (p.Arg691=)
c.2011C= (p.Arg671=)
c.2026C= (p.Arg676=)
c.2188C= (p.Arg730=)
c.2269C= (p.Arg757=)
c.*288C= (n.*288C=)
c.2509C= (p.Arg837=)
c.2083C= (p.Arg695=)
c.2107C= (p.Arg703=)
n.2238C=
c.2503C= (p.Arg835=)
n.2683C=
n.2663C=
c.2155C= (p.Arg719=)
n.2648C=
20g.3228890G>TCA509558190SLC4A11c.2140C>A (p.Arg714=)
c.2071C>A (p.Arg691=)
c.2011C>A (p.Arg671=)
c.2026C>A (p.Arg676=)
c.2188C>A (p.Arg730=)
c.2269C>A (p.Arg757=)
c.*288C>A (n.*288C>A)
c.2509C>A (p.Arg837=)
c.2083C>A (p.Arg695=)
c.2107C>A (p.Arg703=)
n.2238C>A
c.2503C>A (p.Arg835=)
n.2683C>A
n.2663C>A
c.2155C>A (p.Arg719=)
n.2648C>A
20g.3228892_3228900delCA2346475223SLC4A11c.2132_2140del (p.Leu711_Val713del)
c.2063_2071del (p.Leu688_Val690del)
c.2003_2011del (p.Leu668_Val670del)
c.2018_2026del (p.Leu673_Val675del)
c.2180_2188del (p.Leu727_Val729del)
c.2261_2269del (p.Leu754_Val756del)
c.*280_*288del (n.*280_*288del)
c.2501_2509del (p.Leu834_Val836del)
c.2075_2083del (p.Leu692_Val694del)
c.2099_2107del (p.Leu700_Val702del)
n.2230_2238del
c.2495_2503del (p.Leu832_Val834del)
n.2675_2683del
n.2655_2663del
c.2147_2155del (p.Leu716_Val718del)
n.2640_2648del
 dbSNP
20g.3228891C>ACA509558192SLC4A11c.2139G>T (p.Val713=)
c.2070G>T (p.Val690=)
c.2010G>T (p.Val670=)
c.2025G>T (p.Val675=)
c.2187G>T (p.Val729=)
c.2268G>T (p.Val756=)
c.*287G>T (n.*287G>T)
c.2508G>T (p.Val836=)
c.2082G>T (p.Val694=)
c.2106G>T (p.Val702=)
n.2237G>T
c.2502G>T (p.Val834=)
n.2682G>T
n.2662G>T
c.2154G>T (p.Val718=)
n.2647G>T
20g.3228891C>GCA509558193SLC4A11c.2139G>C (p.Val713=)
c.2070G>C (p.Val690=)
c.2010G>C (p.Val670=)
c.2025G>C (p.Val675=)
c.2187G>C (p.Val729=)
c.2268G>C (p.Val756=)
c.*287G>C (n.*287G>C)
c.2508G>C (p.Val836=)
c.2082G>C (p.Val694=)
c.2106G>C (p.Val702=)
n.2237G>C
c.2502G>C (p.Val834=)
n.2682G>C
n.2662G>C
c.2154G>C (p.Val718=)
n.2647G>C
20g.3228891C>TCA509558194SLC4A11c.2139G>A (p.Val713=)
c.2070G>A (p.Val690=)
c.2010G>A (p.Val670=)
c.2025G>A (p.Val675=)
c.2187G>A (p.Val729=)
c.2268G>A (p.Val756=)
c.*287G>A (n.*287G>A)
c.2508G>A (p.Val836=)
c.2082G>A (p.Val694=)
c.2106G>A (p.Val702=)
n.2237G>A
c.2502G>A (p.Val834=)
n.2682G>A
n.2662G>A
c.2154G>A (p.Val718=)
n.2647G>A
20g.3228892A>CCA408086923SLC4A11c.2138T>G (p.Val713Gly)
c.2069T>G (p.Val690Gly)
c.2009T>G (p.Val670Gly)
c.2024T>G (p.Val675Gly)
c.2186T>G (p.Val729Gly)
c.2267T>G (p.Val756Gly)
c.*286T>G (n.*286T>G)
c.2507T>G (p.Val836Gly)
c.2081T>G (p.Val694Gly)
c.2105T>G (p.Val702Gly)
n.2236T>G
c.2501T>G (p.Val834Gly)
n.2681T>G
n.2661T>G
c.2153T>G (p.Val718Gly)
n.2646T>G
20g.3228892A>GCA408086925SLC4A11c.2138T>C (p.Val713Ala)
c.2069T>C (p.Val690Ala)
c.2009T>C (p.Val670Ala)
c.2024T>C (p.Val675Ala)
c.2186T>C (p.Val729Ala)
c.2267T>C (p.Val756Ala)
c.*286T>C (n.*286T>C)
c.2507T>C (p.Val836Ala)
c.2081T>C (p.Val694Ala)
c.2105T>C (p.Val702Ala)
n.2236T>C
c.2501T>C (p.Val834Ala)
n.2681T>C
n.2661T>C
c.2153T>C (p.Val718Ala)
n.2646T>C
20g.3228892A>TCA408086926SLC4A11c.2138T>A (p.Val713Glu)
c.2069T>A (p.Val690Glu)
c.2009T>A (p.Val670Glu)
c.2024T>A (p.Val675Glu)
c.2186T>A (p.Val729Glu)
c.2267T>A (p.Val756Glu)
c.*286T>A (n.*286T>A)
c.2507T>A (p.Val836Glu)
c.2081T>A (p.Val694Glu)
c.2105T>A (p.Val702Glu)
n.2236T>A
c.2501T>A (p.Val834Glu)
n.2681T>A
n.2661T>A
c.2153T>A (p.Val718Glu)
n.2646T>A
 gnomAD v4
20g.3228893C>ACA408086929SLC4A11c.2137G>T (p.Val713Leu)
c.2068G>T (p.Val690Leu)
c.2008G>T (p.Val670Leu)
c.2023G>T (p.Val675Leu)
c.2185G>T (p.Val729Leu)
c.2266G>T (p.Val756Leu)
c.*285G>T (n.*285G>T)
c.2506G>T (p.Val836Leu)
c.2080G>T (p.Val694Leu)
c.2104G>T (p.Val702Leu)
n.2235G>T
c.2500G>T (p.Val834Leu)
n.2680G>T
n.2660G>T
c.2152G>T (p.Val718Leu)
n.2645G>T
20g.3228893C=CA2346475225SLC4A11c.2137G= (p.Val713=)
c.2068G= (p.Val690=)
c.2008G= (p.Val670=)
c.2023G= (p.Val675=)
c.2185G= (p.Val729=)
c.2266G= (p.Val756=)
c.*285G= (n.*285G=)
c.2506G= (p.Val836=)
c.2080G= (p.Val694=)
c.2104G= (p.Val702=)
n.2235G=
c.2500G= (p.Val834=)
n.2680G=
n.2660G=
c.2152G= (p.Val718=)
n.2645G=
20g.3228893C>GCA408086931SLC4A11c.2137G>C (p.Val713Leu)
c.2068G>C (p.Val690Leu)
c.2008G>C (p.Val670Leu)
c.2023G>C (p.Val675Leu)
c.2185G>C (p.Val729Leu)
c.2266G>C (p.Val756Leu)
c.*285G>C (n.*285G>C)
c.2506G>C (p.Val836Leu)
c.2080G>C (p.Val694Leu)
c.2104G>C (p.Val702Leu)
n.2235G>C
c.2500G>C (p.Val834Leu)
n.2680G>C
n.2660G>C
c.2152G>C (p.Val718Leu)
n.2645G>C
 gnomAD v4
20g.3228893C>TCA9741580SLC4A11c.2137G>A (p.Val713Met)
c.2068G>A (p.Val690Met)
c.2008G>A (p.Val670Met)
c.2023G>A (p.Val675Met)
c.2185G>A (p.Val729Met)
c.2266G>A (p.Val756Met)
c.*285G>A (n.*285G>A)
c.2506G>A (p.Val836Met)
c.2080G>A (p.Val694Met)
c.2104G>A (p.Val702Met)
n.2235G>A
c.2500G>A (p.Val834Met)
n.2680G>A
n.2660G>A
c.2152G>A (p.Val718Met)
n.2645G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228894G>ACA9741581SLC4A11c.2136C>T (p.His712=)
c.2067C>T (p.His689=)
c.2007C>T (p.His669=)
c.2022C>T (p.His674=)
c.2184C>T (p.His728=)
c.2265C>T (p.His755=)
c.*284C>T (n.*284C>T)
c.2505C>T (p.His835=)
c.2079C>T (p.His693=)
c.2103C>T (p.His701=)
n.2234C>T
c.2499C>T (p.His833=)
n.2679C>T
n.2659C>T
c.2151C>T (p.His717=)
n.2644C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228894G>CCA408086937SLC4A11c.2136C>G (p.His712Gln)
c.2067C>G (p.His689Gln)
c.2007C>G (p.His669Gln)
c.2022C>G (p.His674Gln)
c.2184C>G (p.His728Gln)
c.2265C>G (p.His755Gln)
c.*284C>G (n.*284C>G)
c.2505C>G (p.His835Gln)
c.2079C>G (p.His693Gln)
c.2103C>G (p.His701Gln)
n.2234C>G
c.2499C>G (p.His833Gln)
n.2679C>G
n.2659C>G
c.2151C>G (p.His717Gln)
n.2644C>G
 gnomAD v4
20g.3228894G=CA2346475226SLC4A11c.2136C= (p.His712=)
c.2067C= (p.His689=)
c.2007C= (p.His669=)
c.2022C= (p.His674=)
c.2184C= (p.His728=)
c.2265C= (p.His755=)
c.*284C= (n.*284C=)
c.2505C= (p.His835=)
c.2079C= (p.His693=)
c.2103C= (p.His701=)
n.2234C=
c.2499C= (p.His833=)
n.2679C=
n.2659C=
c.2151C= (p.His717=)
n.2644C=
20g.3228894G>TCA408086939SLC4A11c.2136C>A (p.His712Gln)
c.2067C>A (p.His689Gln)
c.2007C>A (p.His669Gln)
c.2022C>A (p.His674Gln)
c.2184C>A (p.His728Gln)
c.2265C>A (p.His755Gln)
c.*284C>A (n.*284C>A)
c.2505C>A (p.His835Gln)
c.2079C>A (p.His693Gln)
c.2103C>A (p.His701Gln)
n.2234C>A
c.2499C>A (p.His833Gln)
n.2679C>A
n.2659C>A
c.2151C>A (p.His717Gln)
n.2644C>A
 gnomAD v4
20g.3228895T>ACA408086941SLC4A11c.2135A>T (p.His712Leu)
c.2066A>T (p.His689Leu)
c.2006A>T (p.His669Leu)
c.2021A>T (p.His674Leu)
c.2183A>T (p.His728Leu)
c.2264A>T (p.His755Leu)
c.*283A>T (n.*283A>T)
c.2504A>T (p.His835Leu)
c.2078A>T (p.His693Leu)
c.2102A>T (p.His701Leu)
n.2233A>T
c.2498A>T (p.His833Leu)
n.2678A>T
n.2658A>T
c.2150A>T (p.His717Leu)
n.2643A>T
20g.3228895T>CCA408086943SLC4A11c.2135A>G (p.His712Arg)
c.2066A>G (p.His689Arg)
c.2006A>G (p.His669Arg)
c.2021A>G (p.His674Arg)
c.2183A>G (p.His728Arg)
c.2264A>G (p.His755Arg)
c.*283A>G (n.*283A>G)
c.2504A>G (p.His835Arg)
c.2078A>G (p.His693Arg)
c.2102A>G (p.His701Arg)
n.2233A>G
c.2498A>G (p.His833Arg)
n.2678A>G
n.2658A>G
c.2150A>G (p.His717Arg)
n.2643A>G
20g.3228895T>GCA408086946SLC4A11c.2135A>C (p.His712Pro)
c.2066A>C (p.His689Pro)
c.2006A>C (p.His669Pro)
c.2021A>C (p.His674Pro)
c.2183A>C (p.His728Pro)
c.2264A>C (p.His755Pro)
c.*283A>C (n.*283A>C)
c.2504A>C (p.His835Pro)
c.2078A>C (p.His693Pro)
c.2102A>C (p.His701Pro)
n.2233A>C
c.2498A>C (p.His833Pro)
n.2678A>C
n.2658A>C
c.2150A>C (p.His717Pro)
n.2643A>C
20g.3228896G>ACA408086951SLC4A11c.2134C>T (p.His712Tyr)
c.2065C>T (p.His689Tyr)
c.2005C>T (p.His669Tyr)
c.2020C>T (p.His674Tyr)
c.2182C>T (p.His728Tyr)
c.2263C>T (p.His755Tyr)
c.*282C>T (n.*282C>T)
c.2503C>T (p.His835Tyr)
c.2077C>T (p.His693Tyr)
c.2101C>T (p.His701Tyr)
n.2232C>T
c.2497C>T (p.His833Tyr)
n.2677C>T
n.2657C>T
c.2149C>T (p.His717Tyr)
n.2642C>T
 gnomAD v4
20g.3228896G>CCA408086953SLC4A11c.2134C>G (p.His712Asp)
c.2065C>G (p.His689Asp)
c.2005C>G (p.His669Asp)
c.2020C>G (p.His674Asp)
c.2182C>G (p.His728Asp)
c.2263C>G (p.His755Asp)
c.*282C>G (n.*282C>G)
c.2503C>G (p.His835Asp)
c.2077C>G (p.His693Asp)
c.2101C>G (p.His701Asp)
n.2232C>G
c.2497C>G (p.His833Asp)
n.2677C>G
n.2657C>G
c.2149C>G (p.His717Asp)
n.2642C>G
20g.3228896G>TCA408086949SLC4A11c.2134C>A (p.His712Asn)
c.2065C>A (p.His689Asn)
c.2005C>A (p.His669Asn)
c.2020C>A (p.His674Asn)
c.2182C>A (p.His728Asn)
c.2263C>A (p.His755Asn)
c.*282C>A (n.*282C>A)
c.2503C>A (p.His835Asn)
c.2077C>A (p.His693Asn)
c.2101C>A (p.His701Asn)
n.2232C>A
c.2497C>A (p.His833Asn)
n.2677C>A
n.2657C>A
c.2149C>A (p.His717Asn)
n.2642C>A
 gnomAD v4
20g.3228897C>ACA509558197SLC4A11c.2133G>T (p.Leu711=)
c.2064G>T (p.Leu688=)
c.2004G>T (p.Leu668=)
c.2019G>T (p.Leu673=)
c.2181G>T (p.Leu727=)
c.2262G>T (p.Leu754=)
c.*281G>T (n.*281G>T)
c.2502G>T (p.Leu834=)
c.2076G>T (p.Leu692=)
c.2100G>T (p.Leu700=)
n.2231G>T
c.2496G>T (p.Leu832=)
n.2676G>T
n.2656G>T
c.2148G>T (p.Leu716=)
n.2641G>T
20g.3228897C>GCA509558198SLC4A11c.2133G>C (p.Leu711=)
c.2064G>C (p.Leu688=)
c.2004G>C (p.Leu668=)
c.2019G>C (p.Leu673=)
c.2181G>C (p.Leu727=)
c.2262G>C (p.Leu754=)
c.*281G>C (n.*281G>C)
c.2502G>C (p.Leu834=)
c.2076G>C (p.Leu692=)
c.2100G>C (p.Leu700=)
n.2231G>C
c.2496G>C (p.Leu832=)
n.2676G>C
n.2656G>C
c.2148G>C (p.Leu716=)
n.2641G>C
20g.3228897C>TCA509558200SLC4A11c.2133G>A (p.Leu711=)
c.2064G>A (p.Leu688=)
c.2004G>A (p.Leu668=)
c.2019G>A (p.Leu673=)
c.2181G>A (p.Leu727=)
c.2262G>A (p.Leu754=)
c.*281G>A (n.*281G>A)
c.2502G>A (p.Leu834=)
c.2076G>A (p.Leu692=)
c.2100G>A (p.Leu700=)
n.2231G>A
c.2496G>A (p.Leu832=)
n.2676G>A
n.2656G>A
c.2148G>A (p.Leu716=)
n.2641G>A
20g.3228898A=CA2346475227SLC4A11c.2132T= (p.Leu711=)
c.2063T= (p.Leu688=)
c.2003T= (p.Leu668=)
c.2018T= (p.Leu673=)
c.2180T= (p.Leu727=)
c.2261T= (p.Leu754=)
c.*280T= (n.*280T=)
c.2501T= (p.Leu834=)
c.2075T= (p.Leu692=)
c.2099T= (p.Leu700=)
n.2230T=
c.2495T= (p.Leu832=)
n.2675T=
n.2655T=
c.2147T= (p.Leu716=)
n.2640T=
20g.3228898A>CCA408086955SLC4A11c.2132T>G (p.Leu711Arg)
c.2063T>G (p.Leu688Arg)
c.2003T>G (p.Leu668Arg)
c.2018T>G (p.Leu673Arg)
c.2180T>G (p.Leu727Arg)
c.2261T>G (p.Leu754Arg)
c.*280T>G (n.*280T>G)
c.2501T>G (p.Leu834Arg)
c.2075T>G (p.Leu692Arg)
c.2099T>G (p.Leu700Arg)
n.2230T>G
c.2495T>G (p.Leu832Arg)
n.2675T>G
n.2655T>G
c.2147T>G (p.Leu716Arg)
n.2640T>G
20g.3228898A>GCA9741582SLC4A11c.2132T>C (p.Leu711Pro)
c.2063T>C (p.Leu688Pro)
c.2003T>C (p.Leu668Pro)
c.2018T>C (p.Leu673Pro)
c.2180T>C (p.Leu727Pro)
c.2261T>C (p.Leu754Pro)
c.*280T>C (n.*280T>C)
c.2501T>C (p.Leu834Pro)
c.2075T>C (p.Leu692Pro)
c.2099T>C (p.Leu700Pro)
n.2230T>C
c.2495T>C (p.Leu832Pro)
n.2675T>C
n.2655T>C
c.2147T>C (p.Leu716Pro)
n.2640T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228898A>TCA408086957SLC4A11c.2132T>A (p.Leu711Gln)
c.2063T>A (p.Leu688Gln)
c.2003T>A (p.Leu668Gln)
c.2018T>A (p.Leu673Gln)
c.2180T>A (p.Leu727Gln)
c.2261T>A (p.Leu754Gln)
c.*280T>A (n.*280T>A)
c.2501T>A (p.Leu834Gln)
c.2075T>A (p.Leu692Gln)
c.2099T>A (p.Leu700Gln)
n.2230T>A
c.2495T>A (p.Leu832Gln)
n.2675T>A
n.2655T>A
c.2147T>A (p.Leu716Gln)
n.2640T>A
20g.3228899G>ACA509558202SLC4A11c.2131C>T (p.Leu711=)
c.2062C>T (p.Leu688=)
c.2002C>T (p.Leu668=)
c.2017C>T (p.Leu673=)
c.2179C>T (p.Leu727=)
c.2260C>T (p.Leu754=)
c.*279C>T (n.*279C>T)
c.2500C>T (p.Leu834=)
c.2074C>T (p.Leu692=)
c.2098C>T (p.Leu700=)
n.2229C>T
c.2494C>T (p.Leu832=)
n.2674C>T
n.2654C>T
c.2146C>T (p.Leu716=)
n.2639C>T
20g.3228899G>CCA408086958SLC4A11c.2131C>G (p.Leu711Val)
c.2062C>G (p.Leu688Val)
c.2002C>G (p.Leu668Val)
c.2017C>G (p.Leu673Val)
c.2179C>G (p.Leu727Val)
c.2260C>G (p.Leu754Val)
c.*279C>G (n.*279C>G)
c.2500C>G (p.Leu834Val)
c.2074C>G (p.Leu692Val)
c.2098C>G (p.Leu700Val)
n.2229C>G
c.2494C>G (p.Leu832Val)
n.2674C>G
n.2654C>G
c.2146C>G (p.Leu716Val)
n.2639C>G
20g.3228899G>TCA408086959SLC4A11c.2131C>A (p.Leu711Met)
c.2062C>A (p.Leu688Met)
c.2002C>A (p.Leu668Met)
c.2017C>A (p.Leu673Met)
c.2179C>A (p.Leu727Met)
c.2260C>A (p.Leu754Met)
c.*279C>A (n.*279C>A)
c.2500C>A (p.Leu834Met)
c.2074C>A (p.Leu692Met)
c.2098C>A (p.Leu700Met)
n.2229C>A
c.2494C>A (p.Leu832Met)
n.2674C>A
n.2654C>A
c.2146C>A (p.Leu716Met)
n.2639C>A
20g.3228900C>ACA509558206SLC4A11c.2130G>T (p.Pro710=)
c.2061G>T (p.Pro687=)
c.2001G>T (p.Pro667=)
c.2016G>T (p.Pro672=)
c.2178G>T (p.Pro726=)
c.2259G>T (p.Pro753=)
c.*278G>T (n.*278G>T)
c.2499G>T (p.Pro833=)
c.2073G>T (p.Pro691=)
c.2097G>T (p.Pro699=)
n.2228G>T
c.2493G>T (p.Pro831=)
n.2673G>T
n.2653G>T
c.2145G>T (p.Pro715=)
n.2638G>T
20g.3228900C=CA2346475228SLC4A11c.2130G= (p.Pro710=)
c.2061G= (p.Pro687=)
c.2001G= (p.Pro667=)
c.2016G= (p.Pro672=)
c.2178G= (p.Pro726=)
c.2259G= (p.Pro753=)
c.*278G= (n.*278G=)
c.2499G= (p.Pro833=)
c.2073G= (p.Pro691=)
c.2097G= (p.Pro699=)
n.2228G=
c.2493G= (p.Pro831=)
n.2673G=
n.2653G=
c.2145G= (p.Pro715=)
n.2638G=
20g.3228900C>GCA509558207SLC4A11c.2130G>C (p.Pro710=)
c.2061G>C (p.Pro687=)
c.2001G>C (p.Pro667=)
c.2016G>C (p.Pro672=)
c.2178G>C (p.Pro726=)
c.2259G>C (p.Pro753=)
c.*278G>C (n.*278G>C)
c.2499G>C (p.Pro833=)
c.2073G>C (p.Pro691=)
c.2097G>C (p.Pro699=)
n.2228G>C
c.2493G>C (p.Pro831=)
n.2673G>C
n.2653G>C
c.2145G>C (p.Pro715=)
n.2638G>C
20g.3228900C>TCA9741583SLC4A11c.2130G>A (p.Pro710=)
c.2061G>A (p.Pro687=)
c.2001G>A (p.Pro667=)
c.2016G>A (p.Pro672=)
c.2178G>A (p.Pro726=)
c.2259G>A (p.Pro753=)
c.*278G>A (n.*278G>A)
c.2499G>A (p.Pro833=)
c.2073G>A (p.Pro691=)
c.2097G>A (p.Pro699=)
n.2228G>A
c.2493G>A (p.Pro831=)
n.2673G>A
n.2653G>A
c.2145G>A (p.Pro715=)
n.2638G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228901G>ACA9741584SLC4A11c.2129C>T (p.Pro710Leu)
c.2060C>T (p.Pro687Leu)
c.2000C>T (p.Pro667Leu)
c.2015C>T (p.Pro672Leu)
c.2177C>T (p.Pro726Leu)
c.2258C>T (p.Pro753Leu)
c.*277C>T (n.*277C>T)
c.2498C>T (p.Pro833Leu)
c.2072C>T (p.Pro691Leu)
c.2096C>T (p.Pro699Leu)
n.2227C>T
c.2492C>T (p.Pro831Leu)
n.2672C>T
n.2652C>T
c.2144C>T (p.Pro715Leu)
n.2637C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228901G>CCA408086960SLC4A11c.2129C>G (p.Pro710Arg)
c.2060C>G (p.Pro687Arg)
c.2000C>G (p.Pro667Arg)
c.2015C>G (p.Pro672Arg)
c.2177C>G (p.Pro726Arg)
c.2258C>G (p.Pro753Arg)
c.*277C>G (n.*277C>G)
c.2498C>G (p.Pro833Arg)
c.2072C>G (p.Pro691Arg)
c.2096C>G (p.Pro699Arg)
n.2227C>G
c.2492C>G (p.Pro831Arg)
n.2672C>G
n.2652C>G
c.2144C>G (p.Pro715Arg)
n.2637C>G
20g.3228901G=CA2346475229SLC4A11c.2129C= (p.Pro710=)
c.2060C= (p.Pro687=)
c.2000C= (p.Pro667=)
c.2015C= (p.Pro672=)
c.2177C= (p.Pro726=)
c.2258C= (p.Pro753=)
c.*277C= (n.*277C=)
c.2498C= (p.Pro833=)
c.2072C= (p.Pro691=)
c.2096C= (p.Pro699=)
n.2227C=
c.2492C= (p.Pro831=)
n.2672C=
n.2652C=
c.2144C= (p.Pro715=)
n.2637C=
20g.3228901G>TCA408086961SLC4A11c.2129C>A (p.Pro710Gln)
c.2060C>A (p.Pro687Gln)
c.2000C>A (p.Pro667Gln)
c.2015C>A (p.Pro672Gln)
c.2177C>A (p.Pro726Gln)
c.2258C>A (p.Pro753Gln)
c.*277C>A (n.*277C>A)
c.2498C>A (p.Pro833Gln)
c.2072C>A (p.Pro691Gln)
c.2096C>A (p.Pro699Gln)
n.2227C>A
c.2492C>A (p.Pro831Gln)
n.2672C>A
n.2652C>A
c.2144C>A (p.Pro715Gln)
n.2637C>A
20g.3228902G>ACA9741585SLC4A11c.2128C>T (p.Pro710Ser)
c.2059C>T (p.Pro687Ser)
c.1999C>T (p.Pro667Ser)
c.2014C>T (p.Pro672Ser)
c.2176C>T (p.Pro726Ser)
c.2257C>T (p.Pro753Ser)
c.*276C>T (n.*276C>T)
c.2497C>T (p.Pro833Ser)
c.2071C>T (p.Pro691Ser)
c.2095C>T (p.Pro699Ser)
n.2226C>T
c.2491C>T (p.Pro831Ser)
n.2671C>T
n.2651C>T
c.2143C>T (p.Pro715Ser)
n.2636C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228902G>CCA408086962SLC4A11c.2128C>G (p.Pro710Ala)
c.2059C>G (p.Pro687Ala)
c.1999C>G (p.Pro667Ala)
c.2014C>G (p.Pro672Ala)
c.2176C>G (p.Pro726Ala)
c.2257C>G (p.Pro753Ala)
c.*276C>G (n.*276C>G)
c.2497C>G (p.Pro833Ala)
c.2071C>G (p.Pro691Ala)
c.2095C>G (p.Pro699Ala)
n.2226C>G
c.2491C>G (p.Pro831Ala)
n.2671C>G
n.2651C>G
c.2143C>G (p.Pro715Ala)
n.2636C>G
20g.3228902G=CA2346475230SLC4A11c.2128C= (p.Pro710=)
c.2059C= (p.Pro687=)
c.1999C= (p.Pro667=)
c.2014C= (p.Pro672=)
c.2176C= (p.Pro726=)
c.2257C= (p.Pro753=)
c.*276C= (n.*276C=)
c.2497C= (p.Pro833=)
c.2071C= (p.Pro691=)
c.2095C= (p.Pro699=)
n.2226C=
c.2491C= (p.Pro831=)
n.2671C=
n.2651C=
c.2143C= (p.Pro715=)
n.2636C=
20g.3228902G>TCA408086963SLC4A11c.2128C>A (p.Pro710Thr)
c.2059C>A (p.Pro687Thr)
c.1999C>A (p.Pro667Thr)
c.2014C>A (p.Pro672Thr)
c.2176C>A (p.Pro726Thr)
c.2257C>A (p.Pro753Thr)
c.*276C>A (n.*276C>A)
c.2497C>A (p.Pro833Thr)
c.2071C>A (p.Pro691Thr)
c.2095C>A (p.Pro699Thr)
n.2226C>A
c.2491C>A (p.Pro831Thr)
n.2671C>A
n.2651C>A
c.2143C>A (p.Pro715Thr)
n.2636C>A
 dbSNP gnomAD v3 gnomAD v4
20g.3228903G>ACA509558214SLC4A11c.2127C>T (p.Ser709=)
c.2058C>T (p.Ser686=)
c.1998C>T (p.Ser666=)
c.2013C>T (p.Ser671=)
c.2175C>T (p.Ser725=)
c.2256C>T (p.Ser752=)
c.*275C>T (n.*275C>T)
c.2496C>T (p.Ser832=)
c.2070C>T (p.Ser690=)
c.2094C>T (p.Ser698=)
n.2225C>T
c.2490C>T (p.Ser830=)
n.2670C>T
n.2650C>T
c.2142C>T (p.Ser714=)
n.2635C>T
 dbSNP
20g.3228903G>CCA509558212SLC4A11c.2127C>G (p.Ser709=)
c.2058C>G (p.Ser686=)
c.1998C>G (p.Ser666=)
c.2013C>G (p.Ser671=)
c.2175C>G (p.Ser725=)
c.2256C>G (p.Ser752=)
c.*275C>G (n.*275C>G)
c.2496C>G (p.Ser832=)
c.2070C>G (p.Ser690=)
c.2094C>G (p.Ser698=)
n.2225C>G
c.2490C>G (p.Ser830=)
n.2670C>G
n.2650C>G
c.2142C>G (p.Ser714=)
n.2635C>G
20g.3228903G=CA2346475231SLC4A11c.2127C= (p.Ser709=)
c.2058C= (p.Ser686=)
c.1998C= (p.Ser666=)
c.2013C= (p.Ser671=)
c.2175C= (p.Ser725=)
c.2256C= (p.Ser752=)
c.*275C= (n.*275C=)
c.2496C= (p.Ser832=)
c.2070C= (p.Ser690=)
c.2094C= (p.Ser698=)
n.2225C=
c.2490C= (p.Ser830=)
n.2670C=
n.2650C=
c.2142C= (p.Ser714=)
n.2635C=
20g.3228903G>TCA509558211SLC4A11c.2127C>A (p.Ser709=)
c.2058C>A (p.Ser686=)
c.1998C>A (p.Ser666=)
c.2013C>A (p.Ser671=)
c.2175C>A (p.Ser725=)
c.2256C>A (p.Ser752=)
c.*275C>A (n.*275C>A)
c.2496C>A (p.Ser832=)
c.2070C>A (p.Ser690=)
c.2094C>A (p.Ser698=)
n.2225C>A
c.2490C>A (p.Ser830=)
n.2670C>A
n.2650C>A
c.2142C>A (p.Ser714=)
n.2635C>A
20g.3228904G>ACA408086964SLC4A11c.2126C>T (p.Ser709Phe)
c.2057C>T (p.Ser686Phe)
c.1997C>T (p.Ser666Phe)
c.2012C>T (p.Ser671Phe)
c.2174C>T (p.Ser725Phe)
c.2255C>T (p.Ser752Phe)
c.*274C>T (n.*274C>T)
c.2495C>T (p.Ser832Phe)
c.2069C>T (p.Ser690Phe)
c.2093C>T (p.Ser698Phe)
n.2224C>T
c.2489C>T (p.Ser830Phe)
n.2669C>T
n.2649C>T
c.2141C>T (p.Ser714Phe)
n.2634C>T
20g.3228904G>CCA408086965SLC4A11c.2126C>G (p.Ser709Cys)
c.2057C>G (p.Ser686Cys)
c.1997C>G (p.Ser666Cys)
c.2012C>G (p.Ser671Cys)
c.2174C>G (p.Ser725Cys)
c.2255C>G (p.Ser752Cys)
c.*274C>G (n.*274C>G)
c.2495C>G (p.Ser832Cys)
c.2069C>G (p.Ser690Cys)
c.2093C>G (p.Ser698Cys)
n.2224C>G
c.2489C>G (p.Ser830Cys)
n.2669C>G
n.2649C>G
c.2141C>G (p.Ser714Cys)
n.2634C>G
 gnomAD v4
20g.3228904G>TCA408086966SLC4A11c.2126C>A (p.Ser709Tyr)
c.2057C>A (p.Ser686Tyr)
c.1997C>A (p.Ser666Tyr)
c.2012C>A (p.Ser671Tyr)
c.2174C>A (p.Ser725Tyr)
c.2255C>A (p.Ser752Tyr)
c.*274C>A (n.*274C>A)
c.2495C>A (p.Ser832Tyr)
c.2069C>A (p.Ser690Tyr)
c.2093C>A (p.Ser698Tyr)
n.2224C>A
c.2489C>A (p.Ser830Tyr)
n.2669C>A
n.2649C>A
c.2141C>A (p.Ser714Tyr)
n.2634C>A
20g.3228905A>CCA408086967SLC4A11c.2125T>G (p.Ser709Ala)
c.2056T>G (p.Ser686Ala)
c.1996T>G (p.Ser666Ala)
c.2011T>G (p.Ser671Ala)
c.2173T>G (p.Ser725Ala)
c.2254T>G (p.Ser752Ala)
c.*273T>G (n.*273T>G)
c.2494T>G (p.Ser832Ala)
c.2068T>G (p.Ser690Ala)
c.2092T>G (p.Ser698Ala)
n.2223T>G
c.2488T>G (p.Ser830Ala)
n.2668T>G
n.2648T>G
c.2140T>G (p.Ser714Ala)
n.2633T>G
20g.3228905A>GCA408086968SLC4A11c.2125T>C (p.Ser709Pro)
c.2056T>C (p.Ser686Pro)
c.1996T>C (p.Ser666Pro)
c.2011T>C (p.Ser671Pro)
c.2173T>C (p.Ser725Pro)
c.2254T>C (p.Ser752Pro)
c.*273T>C (n.*273T>C)
c.2494T>C (p.Ser832Pro)
c.2068T>C (p.Ser690Pro)
c.2092T>C (p.Ser698Pro)
n.2223T>C
c.2488T>C (p.Ser830Pro)
n.2668T>C
n.2648T>C
c.2140T>C (p.Ser714Pro)
n.2633T>C
20g.3228905A>TCA408086969SLC4A11c.2125T>A (p.Ser709Thr)
c.2056T>A (p.Ser686Thr)
c.1996T>A (p.Ser666Thr)
c.2011T>A (p.Ser671Thr)
c.2173T>A (p.Ser725Thr)
c.2254T>A (p.Ser752Thr)
c.*273T>A (n.*273T>A)
c.2494T>A (p.Ser832Thr)
c.2068T>A (p.Ser690Thr)
c.2092T>A (p.Ser698Thr)
n.2223T>A
c.2488T>A (p.Ser830Thr)
n.2668T>A
n.2648T>A
c.2140T>A (p.Ser714Thr)
n.2633T>A
20g.3228906G>ACA9741586SLC4A11c.2124C>T (p.His708=)
c.2055C>T (p.His685=)
c.1995C>T (p.His665=)
c.2010C>T (p.His670=)
c.2172C>T (p.His724=)
c.2253C>T (p.His751=)
c.*272C>T (n.*272C>T)
c.2493C>T (p.His831=)
c.2067C>T (p.His689=)
c.2091C>T (p.His697=)
n.2222C>T
c.2487C>T (p.His829=)
n.2667C>T
n.2647C>T
c.2139C>T (p.His713=)
n.2632C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228906G>CCA408086971SLC4A11c.2124C>G (p.His708Gln)
c.2055C>G (p.His685Gln)
c.1995C>G (p.His665Gln)
c.2010C>G (p.His670Gln)
c.2172C>G (p.His724Gln)
c.2253C>G (p.His751Gln)
c.*272C>G (n.*272C>G)
c.2493C>G (p.His831Gln)
c.2067C>G (p.His689Gln)
c.2091C>G (p.His697Gln)
n.2222C>G
c.2487C>G (p.His829Gln)
n.2667C>G
n.2647C>G
c.2139C>G (p.His713Gln)
n.2632C>G
 gnomAD v4
20g.3228906G=CA2346475232SLC4A11c.2124C= (p.His708=)
c.2055C= (p.His685=)
c.1995C= (p.His665=)
c.2010C= (p.His670=)
c.2172C= (p.His724=)
c.2253C= (p.His751=)
c.*272C= (n.*272C=)
c.2493C= (p.His831=)
c.2067C= (p.His689=)
c.2091C= (p.His697=)
n.2222C=
c.2487C= (p.His829=)
n.2667C=
n.2647C=
c.2139C= (p.His713=)
n.2632C=
20g.3228906G>TCA408086970SLC4A11c.2124C>A (p.His708Gln)
c.2055C>A (p.His685Gln)
c.1995C>A (p.His665Gln)
c.2010C>A (p.His670Gln)
c.2172C>A (p.His724Gln)
c.2253C>A (p.His751Gln)
c.*272C>A (n.*272C>A)
c.2493C>A (p.His831Gln)
c.2067C>A (p.His689Gln)
c.2091C>A (p.His697Gln)
n.2222C>A
c.2487C>A (p.His829Gln)
n.2667C>A
n.2647C>A
c.2139C>A (p.His713Gln)
n.2632C>A
 dbSNP
20g.3228907T>ACA408086972SLC4A11c.2123A>T (p.His708Leu)
c.2054A>T (p.His685Leu)
c.1994A>T (p.His665Leu)
c.2009A>T (p.His670Leu)
c.2171A>T (p.His724Leu)
c.2252A>T (p.His751Leu)
c.*271A>T (n.*271A>T)
c.2492A>T (p.His831Leu)
c.2066A>T (p.His689Leu)
c.2090A>T (p.His697Leu)
n.2221A>T
c.2486A>T (p.His829Leu)
n.2666A>T
n.2646A>T
c.2138A>T (p.His713Leu)
n.2631A>T
20g.3228907T>CCA408086973SLC4A11c.2123A>G (p.His708Arg)
c.2054A>G (p.His685Arg)
c.1994A>G (p.His665Arg)
c.2009A>G (p.His670Arg)
c.2171A>G (p.His724Arg)
c.2252A>G (p.His751Arg)
c.*271A>G (n.*271A>G)
c.2492A>G (p.His831Arg)
c.2066A>G (p.His689Arg)
c.2090A>G (p.His697Arg)
n.2221A>G
c.2486A>G (p.His829Arg)
n.2666A>G
n.2646A>G
c.2138A>G (p.His713Arg)
n.2631A>G
 dbSNP gnomAD v3 gnomAD v4
20g.3228907T>GCA408086974SLC4A11c.2123A>C (p.His708Pro)
c.2054A>C (p.His685Pro)
c.1994A>C (p.His665Pro)
c.2009A>C (p.His670Pro)
c.2171A>C (p.His724Pro)
c.2252A>C (p.His751Pro)
c.*271A>C (n.*271A>C)
c.2492A>C (p.His831Pro)
c.2066A>C (p.His689Pro)
c.2090A>C (p.His697Pro)
n.2221A>C
c.2486A>C (p.His829Pro)
n.2666A>C
n.2646A>C
c.2138A>C (p.His713Pro)
n.2631A>C
20g.3228907T=CA2346475233SLC4A11c.2123A= (p.His708=)
c.2054A= (p.His685=)
c.1994A= (p.His665=)
c.2009A= (p.His670=)
c.2171A= (p.His724=)
c.2252A= (p.His751=)
c.*271A= (n.*271A=)
c.2492A= (p.His831=)
c.2066A= (p.His689=)
c.2090A= (p.His697=)
n.2221A=
c.2486A= (p.His829=)
n.2666A=
n.2646A=
c.2138A= (p.His713=)
n.2631A=
20g.3228907_3228908delinsTGCA2346475234SLC4A11c.2122_2123delinsCA (p.His708=)
c.2053_2054delinsCA (p.His685=)
c.1993_1994delinsCA (p.His665=)
c.2008_2009delinsCA (p.His670=)
c.2170_2171delinsCA (p.His724=)
c.2251_2252delinsCA (p.His751=)
c.*270_*271delinsCA (n.*270_*271delinsCA)
c.2491_2492delinsCA (p.His831=)
c.2065_2066delinsCA (p.His689=)
c.2089_2090delinsCA (p.His697=)
n.2220_2221delinsCA
c.2485_2486delinsCA (p.His829=)
n.2665_2666delinsCA
n.2645_2646delinsCA
c.2137_2138delinsCA (p.His713=)
n.2630_2631delinsCA
20g.3228908G>ACA408086975SLC4A11c.2122C>T (p.His708Tyr)
c.2053C>T (p.His685Tyr)
c.1993C>T (p.His665Tyr)
c.2008C>T (p.His670Tyr)
c.2170C>T (p.His724Tyr)
c.2251C>T (p.His751Tyr)
c.*270C>T (n.*270C>T)
c.2491C>T (p.His831Tyr)
c.2065C>T (p.His689Tyr)
c.2089C>T (p.His697Tyr)
n.2220C>T
c.2485C>T (p.His829Tyr)
n.2665C>T
n.2645C>T
c.2137C>T (p.His713Tyr)
n.2630C>T
 gnomAD v4
20g.3228908G>CCA408086976SLC4A11c.2122C>G (p.His708Asp)
c.2053C>G (p.His685Asp)
c.1993C>G (p.His665Asp)
c.2008C>G (p.His670Asp)
c.2170C>G (p.His724Asp)
c.2251C>G (p.His751Asp)
c.*270C>G (n.*270C>G)
c.2491C>G (p.His831Asp)
c.2065C>G (p.His689Asp)
c.2089C>G (p.His697Asp)
n.2220C>G
c.2485C>G (p.His829Asp)
n.2665C>G
n.2645C>G
c.2137C>G (p.His713Asp)
n.2630C>G
20g.3228908G=CA2346475235SLC4A11c.2122C= (p.His708=)
c.2053C= (p.His685=)
c.1993C= (p.His665=)
c.2008C= (p.His670=)
c.2170C= (p.His724=)
c.2251C= (p.His751=)
c.*270C= (n.*270C=)
c.2491C= (p.His831=)
c.2065C= (p.His689=)
c.2089C= (p.His697=)
n.2220C=
c.2485C= (p.His829=)
n.2665C=
n.2645C=
c.2137C= (p.His713=)
n.2630C=
20g.3228908G>TCA9741587SLC4A11c.2122C>A (p.His708Asn)
c.2053C>A (p.His685Asn)
c.1993C>A (p.His665Asn)
c.2008C>A (p.His670Asn)
c.2170C>A (p.His724Asn)
c.2251C>A (p.His751Asn)
c.*270C>A (n.*270C>A)
c.2491C>A (p.His831Asn)
c.2065C>A (p.His689Asn)
c.2089C>A (p.His697Asn)
n.2220C>A
c.2485C>A (p.His829Asn)
n.2665C>A
n.2645C>A
c.2137C>A (p.His713Asn)
n.2630C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228912delCA634329259SLC4A11c.2122del (p.His708ThrfsTer11)
c.2053del (p.His685ThrfsTer11)
c.1993del (p.His665ThrfsTer11)
c.2008del (p.His670ThrfsTer11)
c.2170del (p.His724ThrfsTer11)
c.2251del (p.His751ThrfsTer11)
c.*270del (n.*270del)
c.2491del (p.His831ThrfsTer11)
c.2065del (p.His689ThrfsTer11)
c.2089del (p.His697ThrfsTer11)
n.2220del
c.2485del (p.His829ThrfsTer11)
n.2665del
n.2645del
c.2137del (p.His713ThrfsTer11)
n.2630del
 dbSNP gnomAD v2 gnomAD v4
20g.3228909G>ACA509558223SLC4A11c.2121C>T (p.Pro707=)
c.2052C>T (p.Pro684=)
c.1992C>T (p.Pro664=)
c.2007C>T (p.Pro669=)
c.2169C>T (p.Pro723=)
c.2250C>T (p.Pro750=)
c.*269C>T (n.*269C>T)
c.2490C>T (p.Pro830=)
c.2064C>T (p.Pro688=)
c.2088C>T (p.Pro696=)
n.2219C>T
c.2484C>T (p.Pro828=)
n.2664C>T
n.2644C>T
c.2136C>T (p.Pro712=)
n.2629C>T
 dbSNP
20g.3228909G>CCA509558224SLC4A11c.2121C>G (p.Pro707=)
c.2052C>G (p.Pro684=)
c.1992C>G (p.Pro664=)
c.2007C>G (p.Pro669=)
c.2169C>G (p.Pro723=)
c.2250C>G (p.Pro750=)
c.*269C>G (n.*269C>G)
c.2490C>G (p.Pro830=)
c.2064C>G (p.Pro688=)
c.2088C>G (p.Pro696=)
n.2219C>G
c.2484C>G (p.Pro828=)
n.2664C>G
n.2644C>G
c.2136C>G (p.Pro712=)
n.2629C>G
 ClinVar dbSNP
20g.3228909G=CA2346475236SLC4A11c.2121C= (p.Pro707=)
c.2052C= (p.Pro684=)
c.1992C= (p.Pro664=)
c.2007C= (p.Pro669=)
c.2169C= (p.Pro723=)
c.2250C= (p.Pro750=)
c.*269C= (n.*269C=)
c.2490C= (p.Pro830=)
c.2064C= (p.Pro688=)
c.2088C= (p.Pro696=)
n.2219C=
c.2484C= (p.Pro828=)
n.2664C=
n.2644C=
c.2136C= (p.Pro712=)
n.2629C=
20g.3228909G>TCA509558225SLC4A11c.2121C>A (p.Pro707=)
c.2052C>A (p.Pro684=)
c.1992C>A (p.Pro664=)
c.2007C>A (p.Pro669=)
c.2169C>A (p.Pro723=)
c.2250C>A (p.Pro750=)
c.*269C>A (n.*269C>A)
c.2490C>A (p.Pro830=)
c.2064C>A (p.Pro688=)
c.2088C>A (p.Pro696=)
n.2219C>A
c.2484C>A (p.Pro828=)
n.2664C>A
n.2644C>A
c.2136C>A (p.Pro712=)
n.2629C>A
 ClinVar
20g.3228910G>ACA408086977SLC4A11c.2120C>T (p.Pro707Leu)
c.2051C>T (p.Pro684Leu)
c.1991C>T (p.Pro664Leu)
c.2006C>T (p.Pro669Leu)
c.2168C>T (p.Pro723Leu)
c.2249C>T (p.Pro750Leu)
c.*268C>T (n.*268C>T)
c.2489C>T (p.Pro830Leu)
c.2063C>T (p.Pro688Leu)
c.2087C>T (p.Pro696Leu)
n.2218C>T
c.2483C>T (p.Pro828Leu)
n.2663C>T
n.2643C>T
c.2135C>T (p.Pro712Leu)
n.2628C>T
 gnomAD v4
20g.3228910G>CCA408086978SLC4A11c.2120C>G (p.Pro707Arg)
c.2051C>G (p.Pro684Arg)
c.1991C>G (p.Pro664Arg)
c.2006C>G (p.Pro669Arg)
c.2168C>G (p.Pro723Arg)
c.2249C>G (p.Pro750Arg)
c.*268C>G (n.*268C>G)
c.2489C>G (p.Pro830Arg)
c.2063C>G (p.Pro688Arg)
c.2087C>G (p.Pro696Arg)
n.2218C>G
c.2483C>G (p.Pro828Arg)
n.2663C>G
n.2643C>G
c.2135C>G (p.Pro712Arg)
n.2628C>G
20g.3228910G>TCA408086979SLC4A11c.2120C>A (p.Pro707His)
c.2051C>A (p.Pro684His)
c.1991C>A (p.Pro664His)
c.2006C>A (p.Pro669His)
c.2168C>A (p.Pro723His)
c.2249C>A (p.Pro750His)
c.*268C>A (n.*268C>A)
c.2489C>A (p.Pro830His)
c.2063C>A (p.Pro688His)
c.2087C>A (p.Pro696His)
n.2218C>A
c.2483C>A (p.Pro828His)
n.2663C>A
n.2643C>A
c.2135C>A (p.Pro712His)
n.2628C>A
20g.3228911G>ACA408086980SLC4A11c.2119C>T (p.Pro707Ser)
c.2050C>T (p.Pro684Ser)
c.1990C>T (p.Pro664Ser)
c.2005C>T (p.Pro669Ser)
c.2167C>T (p.Pro723Ser)
c.2248C>T (p.Pro750Ser)
c.*267C>T (n.*267C>T)
c.2488C>T (p.Pro830Ser)
c.2062C>T (p.Pro688Ser)
c.2086C>T (p.Pro696Ser)
n.2217C>T
c.2482C>T (p.Pro828Ser)
n.2662C>T
n.2642C>T
c.2134C>T (p.Pro712Ser)
n.2627C>T
 COSMIC COSMIC
20g.3228911G>CCA408086981SLC4A11c.2119C>G (p.Pro707Ala)
c.2050C>G (p.Pro684Ala)
c.1990C>G (p.Pro664Ala)
c.2005C>G (p.Pro669Ala)
c.2167C>G (p.Pro723Ala)
c.2248C>G (p.Pro750Ala)
c.*267C>G (n.*267C>G)
c.2488C>G (p.Pro830Ala)
c.2062C>G (p.Pro688Ala)
c.2086C>G (p.Pro696Ala)
n.2217C>G
c.2482C>G (p.Pro828Ala)
n.2662C>G
n.2642C>G
c.2134C>G (p.Pro712Ala)
n.2627C>G
20g.3228911G>TCA408086982SLC4A11c.2119C>A (p.Pro707Thr)
c.2050C>A (p.Pro684Thr)
c.1990C>A (p.Pro664Thr)
c.2005C>A (p.Pro669Thr)
c.2167C>A (p.Pro723Thr)
c.2248C>A (p.Pro750Thr)
c.*267C>A (n.*267C>A)
c.2488C>A (p.Pro830Thr)
c.2062C>A (p.Pro688Thr)
c.2086C>A (p.Pro696Thr)
n.2217C>A
c.2482C>A (p.Pro828Thr)
n.2662C>A
n.2642C>A
c.2134C>A (p.Pro712Thr)
n.2627C>A
20g.3228912G>ACA9741588SLC4A11c.2118C>T (p.Tyr706=)
c.2049C>T (p.Tyr683=)
c.1989C>T (p.Tyr663=)
c.2004C>T (p.Tyr668=)
c.2166C>T (p.Tyr722=)
c.2247C>T (p.Tyr749=)
c.*266C>T (n.*266C>T)
c.2487C>T (p.Tyr829=)
c.2061C>T (p.Tyr687=)
c.2085C>T (p.Tyr695=)
n.2216C>T
c.2481C>T (p.Tyr827=)
n.2661C>T
n.2641C>T
c.2133C>T (p.Tyr711=)
n.2626C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228912G>CCA408086984SLC4A11c.2118C>G (p.Tyr706Ter)
c.2049C>G (p.Tyr683Ter)
c.1989C>G (p.Tyr663Ter)
c.2004C>G (p.Tyr668Ter)
c.2166C>G (p.Tyr722Ter)
c.2247C>G (p.Tyr749Ter)
c.*266C>G (n.*266C>G)
c.2487C>G (p.Tyr829Ter)
c.2061C>G (p.Tyr687Ter)
c.2085C>G (p.Tyr695Ter)
n.2216C>G
c.2481C>G (p.Tyr827Ter)
n.2661C>G
n.2641C>G
c.2133C>G (p.Tyr711Ter)
n.2626C>G
20g.3228912G=CA2346475237SLC4A11c.2118C= (p.Tyr706=)
c.2049C= (p.Tyr683=)
c.1989C= (p.Tyr663=)
c.2004C= (p.Tyr668=)
c.2166C= (p.Tyr722=)
c.2247C= (p.Tyr749=)
c.*266C= (n.*266C=)
c.2487C= (p.Tyr829=)
c.2061C= (p.Tyr687=)
c.2085C= (p.Tyr695=)
n.2216C=
c.2481C= (p.Tyr827=)
n.2661C=
n.2641C=
c.2133C= (p.Tyr711=)
n.2626C=
20g.3228912G>TCA408086983SLC4A11c.2118C>A (p.Tyr706Ter)
c.2049C>A (p.Tyr683Ter)
c.1989C>A (p.Tyr663Ter)
c.2004C>A (p.Tyr668Ter)
c.2166C>A (p.Tyr722Ter)
c.2247C>A (p.Tyr749Ter)
c.*266C>A (n.*266C>A)
c.2487C>A (p.Tyr829Ter)
c.2061C>A (p.Tyr687Ter)
c.2085C>A (p.Tyr695Ter)
n.2216C>A
c.2481C>A (p.Tyr827Ter)
n.2661C>A
n.2641C>A
c.2133C>A (p.Tyr711Ter)
n.2626C>A
20g.3228913T>ACA408086985SLC4A11c.2117A>T (p.Tyr706Phe)
c.2048A>T (p.Tyr683Phe)
c.1988A>T (p.Tyr663Phe)
c.2003A>T (p.Tyr668Phe)
c.2165A>T (p.Tyr722Phe)
c.2246A>T (p.Tyr749Phe)
c.*265A>T (n.*265A>T)
c.2486A>T (p.Tyr829Phe)
c.2060A>T (p.Tyr687Phe)
c.2084A>T (p.Tyr695Phe)
n.2215A>T
c.2480A>T (p.Tyr827Phe)
n.2660A>T
n.2640A>T
c.2132A>T (p.Tyr711Phe)
n.2625A>T
 gnomAD v4
20g.3228913T>CCA408086986SLC4A11c.2117A>G (p.Tyr706Cys)
c.2048A>G (p.Tyr683Cys)
c.1988A>G (p.Tyr663Cys)
c.2003A>G (p.Tyr668Cys)
c.2165A>G (p.Tyr722Cys)
c.2246A>G (p.Tyr749Cys)
c.*265A>G (n.*265A>G)
c.2486A>G (p.Tyr829Cys)
c.2060A>G (p.Tyr687Cys)
c.2084A>G (p.Tyr695Cys)
n.2215A>G
c.2480A>G (p.Tyr827Cys)
n.2660A>G
n.2640A>G
c.2132A>G (p.Tyr711Cys)
n.2625A>G
20g.3228913T>GCA408086987SLC4A11c.2117A>C (p.Tyr706Ser)
c.2048A>C (p.Tyr683Ser)
c.1988A>C (p.Tyr663Ser)
c.2003A>C (p.Tyr668Ser)
c.2165A>C (p.Tyr722Ser)
c.2246A>C (p.Tyr749Ser)
c.*265A>C (n.*265A>C)
c.2486A>C (p.Tyr829Ser)
c.2060A>C (p.Tyr687Ser)
c.2084A>C (p.Tyr695Ser)
n.2215A>C
c.2480A>C (p.Tyr827Ser)
n.2660A>C
n.2640A>C
c.2132A>C (p.Tyr711Ser)
n.2625A>C
20g.3228914A>CCA408086988SLC4A11c.2116T>G (p.Tyr706Asp)
c.2047T>G (p.Tyr683Asp)
c.1987T>G (p.Tyr663Asp)
c.2002T>G (p.Tyr668Asp)
c.2164T>G (p.Tyr722Asp)
c.2245T>G (p.Tyr749Asp)
c.*264T>G (n.*264T>G)
c.2485T>G (p.Tyr829Asp)
c.2059T>G (p.Tyr687Asp)
c.2083T>G (p.Tyr695Asp)
n.2214T>G
c.2479T>G (p.Tyr827Asp)
n.2659T>G
n.2639T>G
c.2131T>G (p.Tyr711Asp)
n.2624T>G
20g.3228914A>GCA408086989SLC4A11c.2116T>C (p.Tyr706His)
c.2047T>C (p.Tyr683His)
c.1987T>C (p.Tyr663His)
c.2002T>C (p.Tyr668His)
c.2164T>C (p.Tyr722His)
c.2245T>C (p.Tyr749His)
c.*264T>C (n.*264T>C)
c.2485T>C (p.Tyr829His)
c.2059T>C (p.Tyr687His)
c.2083T>C (p.Tyr695His)
n.2214T>C
c.2479T>C (p.Tyr827His)
n.2659T>C
n.2639T>C
c.2131T>C (p.Tyr711His)
n.2624T>C
20g.3228914A>TCA408086990SLC4A11c.2116T>A (p.Tyr706Asn)
c.2047T>A (p.Tyr683Asn)
c.1987T>A (p.Tyr663Asn)
c.2002T>A (p.Tyr668Asn)
c.2164T>A (p.Tyr722Asn)
c.2245T>A (p.Tyr749Asn)
c.*264T>A (n.*264T>A)
c.2485T>A (p.Tyr829Asn)
c.2059T>A (p.Tyr687Asn)
c.2083T>A (p.Tyr695Asn)
n.2214T>A
c.2479T>A (p.Tyr827Asn)
n.2659T>A
n.2639T>A
c.2131T>A (p.Tyr711Asn)
n.2624T>A
20g.3228915G>ACA509558233SLC4A11c.2115C>T (p.Ala705=)
c.2046C>T (p.Ala682=)
c.1986C>T (p.Ala662=)
c.2001C>T (p.Ala667=)
c.2163C>T (p.Ala721=)
c.2244C>T (p.Ala748=)
c.*263C>T (n.*263C>T)
c.2484C>T (p.Ala828=)
c.2058C>T (p.Ala686=)
c.2082C>T (p.Ala694=)
n.2213C>T
c.2478C>T (p.Ala826=)
n.2658C>T
n.2638C>T
c.2130C>T (p.Ala710=)
n.2623C>T
20g.3228915G>CCA509558234SLC4A11c.2115C>G (p.Ala705=)
c.2046C>G (p.Ala682=)
c.1986C>G (p.Ala662=)
c.2001C>G (p.Ala667=)
c.2163C>G (p.Ala721=)
c.2244C>G (p.Ala748=)
c.*263C>G (n.*263C>G)
c.2484C>G (p.Ala828=)
c.2058C>G (p.Ala686=)
c.2082C>G (p.Ala694=)
n.2213C>G
c.2478C>G (p.Ala826=)
n.2658C>G
n.2638C>G
c.2130C>G (p.Ala710=)
n.2623C>G
20g.3228915G>TCA509558235SLC4A11c.2115C>A (p.Ala705=)
c.2046C>A (p.Ala682=)
c.1986C>A (p.Ala662=)
c.2001C>A (p.Ala667=)
c.2163C>A (p.Ala721=)
c.2244C>A (p.Ala748=)
c.*263C>A (n.*263C>A)
c.2484C>A (p.Ala828=)
c.2058C>A (p.Ala686=)
c.2082C>A (p.Ala694=)
n.2213C>A
c.2478C>A (p.Ala826=)
n.2658C>A
n.2638C>A
c.2130C>A (p.Ala710=)
n.2623C>A
20g.3228916G>ACA408086991SLC4A11c.2114C>T (p.Ala705Val)
c.2045C>T (p.Ala682Val)
c.1985C>T (p.Ala662Val)
c.2000C>T (p.Ala667Val)
c.2162C>T (p.Ala721Val)
c.2243C>T (p.Ala748Val)
c.*262C>T (n.*262C>T)
c.2483C>T (p.Ala828Val)
c.2057C>T (p.Ala686Val)
c.2081C>T (p.Ala694Val)
n.2212C>T
c.2477C>T (p.Ala826Val)
n.2657C>T
n.2637C>T
c.2129C>T (p.Ala710Val)
n.2622C>T
 gnomAD v4
20g.3228916G>CCA408086992SLC4A11c.2114C>G (p.Ala705Gly)
c.2045C>G (p.Ala682Gly)
c.1985C>G (p.Ala662Gly)
c.2000C>G (p.Ala667Gly)
c.2162C>G (p.Ala721Gly)
c.2243C>G (p.Ala748Gly)
c.*262C>G (n.*262C>G)
c.2483C>G (p.Ala828Gly)
c.2057C>G (p.Ala686Gly)
c.2081C>G (p.Ala694Gly)
n.2212C>G
c.2477C>G (p.Ala826Gly)
n.2657C>G
n.2637C>G
c.2129C>G (p.Ala710Gly)
n.2622C>G
20g.3228916G>TCA408086993SLC4A11c.2114C>A (p.Ala705Asp)
c.2045C>A (p.Ala682Asp)
c.1985C>A (p.Ala662Asp)
c.2000C>A (p.Ala667Asp)
c.2162C>A (p.Ala721Asp)
c.2243C>A (p.Ala748Asp)
c.*262C>A (n.*262C>A)
c.2483C>A (p.Ala828Asp)
c.2057C>A (p.Ala686Asp)
c.2081C>A (p.Ala694Asp)
n.2212C>A
c.2477C>A (p.Ala826Asp)
n.2657C>A
n.2637C>A
c.2129C>A (p.Ala710Asp)
n.2622C>A
20g.3228917C>ACA408086994SLC4A11c.2113G>T (p.Ala705Ser)
c.2044G>T (p.Ala682Ser)
c.1984G>T (p.Ala662Ser)
c.1999G>T (p.Ala667Ser)
c.2161G>T (p.Ala721Ser)
c.2242G>T (p.Ala748Ser)
c.*261G>T (n.*261G>T)
c.2482G>T (p.Ala828Ser)
c.2056G>T (p.Ala686Ser)
c.2080G>T (p.Ala694Ser)
n.2211G>T
c.2476G>T (p.Ala826Ser)
n.2656G>T
n.2636G>T
c.2128G>T (p.Ala710Ser)
n.2621G>T
20g.3228917C=CA2346475238SLC4A11c.2113G= (p.Ala705=)
c.2044G= (p.Ala682=)
c.1984G= (p.Ala662=)
c.1999G= (p.Ala667=)
c.2161G= (p.Ala721=)
c.2242G= (p.Ala748=)
c.*261G= (n.*261G=)
c.2482G= (p.Ala828=)
c.2056G= (p.Ala686=)
c.2080G= (p.Ala694=)
n.2211G=
c.2476G= (p.Ala826=)
n.2656G=
n.2636G=
c.2128G= (p.Ala710=)
n.2621G=
20g.3228917C>GCA408086995SLC4A11c.2113G>C (p.Ala705Pro)
c.2044G>C (p.Ala682Pro)
c.1984G>C (p.Ala662Pro)
c.1999G>C (p.Ala667Pro)
c.2161G>C (p.Ala721Pro)
c.2242G>C (p.Ala748Pro)
c.*261G>C (n.*261G>C)
c.2482G>C (p.Ala828Pro)
c.2056G>C (p.Ala686Pro)
c.2080G>C (p.Ala694Pro)
n.2211G>C
c.2476G>C (p.Ala826Pro)
n.2656G>C
n.2636G>C
c.2128G>C (p.Ala710Pro)
n.2621G>C
20g.3228917C>TCA9741589SLC4A11c.2113G>A (p.Ala705Thr)
c.2044G>A (p.Ala682Thr)
c.1984G>A (p.Ala662Thr)
c.1999G>A (p.Ala667Thr)
c.2161G>A (p.Ala721Thr)
c.2242G>A (p.Ala748Thr)
c.*261G>A (n.*261G>A)
c.2482G>A (p.Ala828Thr)
c.2056G>A (p.Ala686Thr)
c.2080G>A (p.Ala694Thr)
n.2211G>A
c.2476G>A (p.Ala826Thr)
n.2656G>A
n.2636G>A
c.2128G>A (p.Ala710Thr)
n.2621G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.3228918G>ACA9741590SLC4A11c.2112C>T (p.Ala704=)
c.2043C>T (p.Ala681=)
c.1983C>T (p.Ala661=)
c.1998C>T (p.Ala666=)
c.2160C>T (p.Ala720=)
c.2241C>T (p.Ala747=)
c.*260C>T (n.*260C>T)
c.2481C>T (p.Ala827=)
c.2055C>T (p.Ala685=)
c.2079C>T (p.Ala693=)
n.2210C>T
c.2475C>T (p.Ala825=)
n.2655C>T
n.2635C>T
c.2127C>T (p.Ala709=)
n.2620C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228918G>CCA509558237SLC4A11c.2112C>G (p.Ala704=)
c.2043C>G (p.Ala681=)
c.1983C>G (p.Ala661=)
c.1998C>G (p.Ala666=)
c.2160C>G (p.Ala720=)
c.2241C>G (p.Ala747=)
c.*260C>G (n.*260C>G)
c.2481C>G (p.Ala827=)
c.2055C>G (p.Ala685=)
c.2079C>G (p.Ala693=)
n.2210C>G
c.2475C>G (p.Ala825=)
n.2655C>G
n.2635C>G
c.2127C>G (p.Ala709=)
n.2620C>G
20g.3228918G=CA2346475239SLC4A11c.2112C= (p.Ala704=)
c.2043C= (p.Ala681=)
c.1983C= (p.Ala661=)
c.1998C= (p.Ala666=)
c.2160C= (p.Ala720=)
c.2241C= (p.Ala747=)
c.*260C= (n.*260C=)
c.2481C= (p.Ala827=)
c.2055C= (p.Ala685=)
c.2079C= (p.Ala693=)
n.2210C=
c.2475C= (p.Ala825=)
n.2655C=
n.2635C=
c.2127C= (p.Ala709=)
n.2620C=
20g.3228918G>TCA509558238SLC4A11c.2112C>A (p.Ala704=)
c.2043C>A (p.Ala681=)
c.1983C>A (p.Ala661=)
c.1998C>A (p.Ala666=)
c.2160C>A (p.Ala720=)
c.2241C>A (p.Ala747=)
c.*260C>A (n.*260C>A)
c.2481C>A (p.Ala827=)
c.2055C>A (p.Ala685=)
c.2079C>A (p.Ala693=)
n.2210C>A
c.2475C>A (p.Ala825=)
n.2655C>A
n.2635C>A
c.2127C>A (p.Ala709=)
n.2620C>A
20g.3228919G>ACA310985932SLC4A11c.2111C>T (p.Ala704Val)
c.2042C>T (p.Ala681Val)
c.1982C>T (p.Ala661Val)
c.1997C>T (p.Ala666Val)
c.2159C>T (p.Ala720Val)
c.2240C>T (p.Ala747Val)
c.*259C>T (n.*259C>T)
c.2480C>T (p.Ala827Val)
c.2054C>T (p.Ala685Val)
c.2078C>T (p.Ala693Val)
n.2209C>T
c.2474C>T (p.Ala825Val)
n.2654C>T
n.2634C>T
c.2126C>T (p.Ala709Val)
n.2619C>T
 dbSNP COSMIC COSMIC
20g.3228919G>CCA408086996SLC4A11c.2111C>G (p.Ala704Gly)
c.2042C>G (p.Ala681Gly)
c.1982C>G (p.Ala661Gly)
c.1997C>G (p.Ala666Gly)
c.2159C>G (p.Ala720Gly)
c.2240C>G (p.Ala747Gly)
c.*259C>G (n.*259C>G)
c.2480C>G (p.Ala827Gly)
c.2054C>G (p.Ala685Gly)
c.2078C>G (p.Ala693Gly)
n.2209C>G
c.2474C>G (p.Ala825Gly)
n.2654C>G
n.2634C>G
c.2126C>G (p.Ala709Gly)
n.2619C>G
20g.3228919G=CA2346475240SLC4A11c.2111C= (p.Ala704=)
c.2042C= (p.Ala681=)
c.1982C= (p.Ala661=)
c.1997C= (p.Ala666=)
c.2159C= (p.Ala720=)
c.2240C= (p.Ala747=)
c.*259C= (n.*259C=)
c.2480C= (p.Ala827=)
c.2054C= (p.Ala685=)
c.2078C= (p.Ala693=)
n.2209C=
c.2474C= (p.Ala825=)
n.2654C=
n.2634C=
c.2126C= (p.Ala709=)
n.2619C=
20g.3228919G>TCA408086997SLC4A11c.2111C>A (p.Ala704Asp)
c.2042C>A (p.Ala681Asp)
c.1982C>A (p.Ala661Asp)
c.1997C>A (p.Ala666Asp)
c.2159C>A (p.Ala720Asp)
c.2240C>A (p.Ala747Asp)
c.*259C>A (n.*259C>A)
c.2480C>A (p.Ala827Asp)
c.2054C>A (p.Ala685Asp)
c.2078C>A (p.Ala693Asp)
n.2209C>A
c.2474C>A (p.Ala825Asp)
n.2654C>A
n.2634C>A
c.2126C>A (p.Ala709Asp)
n.2619C>A
 gnomAD v4
20g.3228920C>ACA408086998SLC4A11c.2110G>T (p.Ala704Ser)
c.2041G>T (p.Ala681Ser)
c.1981G>T (p.Ala661Ser)
c.1996G>T (p.Ala666Ser)
c.2158G>T (p.Ala720Ser)
c.2239G>T (p.Ala747Ser)
c.*258G>T (n.*258G>T)
c.2479G>T (p.Ala827Ser)
c.2053G>T (p.Ala685Ser)
c.2077G>T (p.Ala693Ser)
n.2208G>T
c.2473G>T (p.Ala825Ser)
n.2653G>T
n.2633G>T
c.2125G>T (p.Ala709Ser)
n.2618G>T
20g.3228920C>GCA408086999SLC4A11c.2110G>C (p.Ala704Pro)
c.2041G>C (p.Ala681Pro)
c.1981G>C (p.Ala661Pro)
c.1996G>C (p.Ala666Pro)
c.2158G>C (p.Ala720Pro)
c.2239G>C (p.Ala747Pro)
c.*258G>C (n.*258G>C)
c.2479G>C (p.Ala827Pro)
c.2053G>C (p.Ala685Pro)
c.2077G>C (p.Ala693Pro)
n.2208G>C
c.2473G>C (p.Ala825Pro)
n.2653G>C
n.2633G>C
c.2125G>C (p.Ala709Pro)
n.2618G>C
20g.3228920C>TCA408087000SLC4A11c.2110G>A (p.Ala704Thr)
c.2041G>A (p.Ala681Thr)
c.1981G>A (p.Ala661Thr)
c.1996G>A (p.Ala666Thr)
c.2158G>A (p.Ala720Thr)
c.2239G>A (p.Ala747Thr)
c.*258G>A (n.*258G>A)
c.2479G>A (p.Ala827Thr)
c.2053G>A (p.Ala685Thr)
c.2077G>A (p.Ala693Thr)
n.2208G>A
c.2473G>A (p.Ala825Thr)
n.2653G>A
n.2633G>A
c.2125G>A (p.Ala709Thr)
n.2618G>A
20g.3228921A=CA2346475241SLC4A11c.2109T= (p.His703=)
c.2040T= (p.His680=)
c.1980T= (p.His660=)
c.1995T= (p.His665=)
c.2157T= (p.His719=)
c.2238T= (p.His746=)
c.*257T= (n.*257T=)
c.2478T= (p.His826=)
c.2052T= (p.His684=)
c.2076T= (p.His692=)
n.2207T=
c.2472T= (p.His824=)
n.2652T=
n.2632T=
c.2124T= (p.His708=)
n.2617T=
20g.3228921A>CCA408087001SLC4A11c.2109T>G (p.His703Gln)
c.2040T>G (p.His680Gln)
c.1980T>G (p.His660Gln)
c.1995T>G (p.His665Gln)
c.2157T>G (p.His719Gln)
c.2238T>G (p.His746Gln)
c.*257T>G (n.*257T>G)
c.2478T>G (p.His826Gln)
c.2052T>G (p.His684Gln)
c.2076T>G (p.His692Gln)
n.2207T>G
c.2472T>G (p.His824Gln)
n.2652T>G
n.2632T>G
c.2124T>G (p.His708Gln)
n.2617T>G
20g.3228921A>GCA9741591SLC4A11c.2109T>C (p.His703=)
c.2040T>C (p.His680=)
c.1980T>C (p.His660=)
c.1995T>C (p.His665=)
c.2157T>C (p.His719=)
c.2238T>C (p.His746=)
c.*257T>C (n.*257T>C)
c.2478T>C (p.His826=)
c.2052T>C (p.His684=)
c.2076T>C (p.His692=)
n.2207T>C
c.2472T>C (p.His824=)
n.2652T>C
n.2632T>C
c.2124T>C (p.His708=)
n.2617T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228921A>TCA408087002SLC4A11c.2109T>A (p.His703Gln)
c.2040T>A (p.His680Gln)
c.1980T>A (p.His660Gln)
c.1995T>A (p.His665Gln)
c.2157T>A (p.His719Gln)
c.2238T>A (p.His746Gln)
c.*257T>A (n.*257T>A)
c.2478T>A (p.His826Gln)
c.2052T>A (p.His684Gln)
c.2076T>A (p.His692Gln)
n.2207T>A
c.2472T>A (p.His824Gln)
n.2652T>A
n.2632T>A
c.2124T>A (p.His708Gln)
n.2617T>A

Number of alleles fetched