Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44253229G>ACA399781609SLC4A1c.2200C>T (p.His734Tyr)
c.1102C>T (p.His368Tyr)
c.2005C>T (p.His669Tyr)
c.2110C>T (p.His704Tyr)
17g.44253229G>CCA399781610SLC4A1c.2200C>G (p.His734Asp)
c.1102C>G (p.His368Asp)
c.2005C>G (p.His669Asp)
c.2110C>G (p.His704Asp)
 COSMIC
17g.44253229G>TCA399781611SLC4A1c.2200C>A (p.His734Asn)
c.1102C>A (p.His368Asn)
c.2005C>A (p.His669Asn)
c.2110C>A (p.His704Asn)
17g.44253230G>ACA500619002SLC4A1c.2199C>T (p.Thr733=)
c.1101C>T (p.Thr367=)
c.2004C>T (p.Thr668=)
c.2109C>T (p.Thr703=)
 dbSNP gnomAD v2 gnomAD v4
17g.44253230G>CCA500619003SLC4A1c.2199C>G (p.Thr733=)
c.1101C>G (p.Thr367=)
c.2004C>G (p.Thr668=)
c.2109C>G (p.Thr703=)
17g.44253230G=CA2261307670SLC4A1c.2199C= (p.Thr733=)
c.1101C= (p.Thr367=)
c.2004C= (p.Thr668=)
c.2109C= (p.Thr703=)
17g.44253230G>TCA500619004SLC4A1c.2199C>A (p.Thr733=)
c.1101C>A (p.Thr367=)
c.2004C>A (p.Thr668=)
c.2109C>A (p.Thr703=)
 dbSNP gnomAD v4
17g.44253231G>ACA399781612SLC4A1c.2198C>T (p.Thr733Ile)
c.1100C>T (p.Thr367Ile)
c.2003C>T (p.Thr668Ile)
c.2108C>T (p.Thr703Ile)
17g.44253231G>CCA399781613SLC4A1c.2198C>G (p.Thr733Ser)
c.1100C>G (p.Thr367Ser)
c.2003C>G (p.Thr668Ser)
c.2108C>G (p.Thr703Ser)
17g.44253231G>TCA399781614SLC4A1c.2198C>A (p.Thr733Asn)
c.1100C>A (p.Thr367Asn)
c.2003C>A (p.Thr668Asn)
c.2108C>A (p.Thr703Asn)
17g.44253232T>ACA399781617SLC4A1c.2197A>T (p.Thr733Ser)
c.1099A>T (p.Thr367Ser)
c.2002A>T (p.Thr668Ser)
c.2107A>T (p.Thr703Ser)
17g.44253232T>CCA399781616SLC4A1c.2197A>G (p.Thr733Ala)
c.1099A>G (p.Thr367Ala)
c.2002A>G (p.Thr668Ala)
c.2107A>G (p.Thr703Ala)
17g.44253232T>GCA399781615SLC4A1c.2197A>C (p.Thr733Pro)
c.1099A>C (p.Thr367Pro)
c.2002A>C (p.Thr668Pro)
c.2107A>C (p.Thr703Pro)
17g.44253233G>ACA500619005SLC4A1c.2196C>T (p.Val732=)
c.1098C>T (p.Val366=)
c.2001C>T (p.Val667=)
c.2106C>T (p.Val702=)
17g.44253233G>CCA500619007SLC4A1c.2196C>G (p.Val732=)
c.1098C>G (p.Val366=)
c.2001C>G (p.Val667=)
c.2106C>G (p.Val702=)
17g.44253233G>TCA500619006SLC4A1c.2196C>A (p.Val732=)
c.1098C>A (p.Val366=)
c.2001C>A (p.Val667=)
c.2106C>A (p.Val702=)
17g.44253234A>CCA399781618SLC4A1c.2195T>G (p.Val732Gly)
c.1097T>G (p.Val366Gly)
c.2000T>G (p.Val667Gly)
c.2105T>G (p.Val702Gly)
17g.44253234A>GCA399781619SLC4A1c.2195T>C (p.Val732Ala)
c.1097T>C (p.Val366Ala)
c.2000T>C (p.Val667Ala)
c.2105T>C (p.Val702Ala)
17g.44253234A>TCA399781620SLC4A1c.2195T>A (p.Val732Asp)
c.1097T>A (p.Val366Asp)
c.2000T>A (p.Val667Asp)
c.2105T>A (p.Val702Asp)
17g.44253235C>ACA399781621SLC4A1c.2194G>T (p.Val732Phe)
c.1096G>T (p.Val366Phe)
c.1999G>T (p.Val667Phe)
c.2104G>T (p.Val702Phe)
17g.44253235C=CA2261307671SLC4A1c.2194G= (p.Val732=)
c.1096G= (p.Val366=)
c.1999G= (p.Val667=)
c.2104G= (p.Val702=)
17g.44253235C>GCA399781622SLC4A1c.2194G>C (p.Val732Leu)
c.1096G>C (p.Val366Leu)
c.1999G>C (p.Val667Leu)
c.2104G>C (p.Val702Leu)
17g.44253235C>TCA8600096SLC4A1c.2194G>A (p.Val732Ile)
c.1096G>A (p.Val366Ile)
c.1999G>A (p.Val667Ile)
c.2104G>A (p.Val702Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44253236G>ACA8600097SLC4A1c.2193C>T (p.Ser731=)
c.1095C>T (p.Ser365=)
c.1998C>T (p.Ser666=)
c.2103C>T (p.Ser701=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44253236G>CCA500619008SLC4A1c.2193C>G (p.Ser731=)
c.1095C>G (p.Ser365=)
c.1998C>G (p.Ser666=)
c.2103C>G (p.Ser701=)
17g.44253236G=CA2261307672SLC4A1c.2193C= (p.Ser731=)
c.1095C= (p.Ser365=)
c.1998C= (p.Ser666=)
c.2103C= (p.Ser701=)
17g.44253236G>TCA500619009SLC4A1c.2193C>A (p.Ser731=)
c.1095C>A (p.Ser365=)
c.1998C>A (p.Ser666=)
c.2103C>A (p.Ser701=)
17g.44253237G>ACA399781623SLC4A1c.2192C>T (p.Ser731Phe)
c.1094C>T (p.Ser365Phe)
c.1997C>T (p.Ser666Phe)
c.2102C>T (p.Ser701Phe)
 COSMIC
17g.44253237G>CCA399781624SLC4A1c.2192C>G (p.Ser731Cys)
c.1094C>G (p.Ser365Cys)
c.1997C>G (p.Ser666Cys)
c.2102C>G (p.Ser701Cys)
17g.44253237G>TCA399781625SLC4A1c.2192C>A (p.Ser731Tyr)
c.1094C>A (p.Ser365Tyr)
c.1997C>A (p.Ser666Tyr)
c.2102C>A (p.Ser701Tyr)
17g.44253238A=CA2261307673SLC4A1c.2191T= (p.Ser731=)
c.1093T= (p.Ser365=)
c.1996T= (p.Ser666=)
c.2101T= (p.Ser701=)
17g.44253238A>CCA399781626SLC4A1c.2191T>G (p.Ser731Ala)
c.1093T>G (p.Ser365Ala)
c.1996T>G (p.Ser666Ala)
c.2101T>G (p.Ser701Ala)
17g.44253238A>GCA215058SLC4A1c.2191T>C (p.Ser731Pro)
c.1093T>C (p.Ser365Pro)
c.1996T>C (p.Ser666Pro)
c.2101T>C (p.Ser701Pro)
 ClinVar dbSNP
17g.44253238A>TCA399781627SLC4A1c.2191T>A (p.Ser731Thr)
c.1093T>A (p.Ser365Thr)
c.1996T>A (p.Ser666Thr)
c.2101T>A (p.Ser701Thr)
17g.44253239A>CCA500619010SLC4A1c.2190T>G (p.Arg730=)
c.1092T>G (p.Arg364=)
c.1995T>G (p.Arg665=)
c.2100T>G (p.Arg700=)
17g.44253239A>GCA500619011SLC4A1c.2190T>C (p.Arg730=)
c.1092T>C (p.Arg364=)
c.1995T>C (p.Arg665=)
c.2100T>C (p.Arg700=)
17g.44253239A>TCA500619012SLC4A1c.2190T>A (p.Arg730=)
c.1092T>A (p.Arg364=)
c.1995T>A (p.Arg665=)
c.2100T>A (p.Arg700=)
17g.44253240C>ACA399781629SLC4A1c.2189G>T (p.Arg730Leu)
c.1091G>T (p.Arg364Leu)
c.1994G>T (p.Arg665Leu)
c.2099G>T (p.Arg700Leu)
 dbSNP
17g.44253240C=CA2261307674SLC4A1c.2189G= (p.Arg730=)
c.1091G= (p.Arg364=)
c.1994G= (p.Arg665=)
c.2099G= (p.Arg700=)
17g.44253240C>GCA399781628SLC4A1c.2189G>C (p.Arg730Pro)
c.1091G>C (p.Arg364Pro)
c.1994G>C (p.Arg665Pro)
c.2099G>C (p.Arg700Pro)
17g.44253240C>TCA8600098SLC4A1c.2189G>A (p.Arg730His)
c.1091G>A (p.Arg364His)
c.1994G>A (p.Arg665His)
c.2099G>A (p.Arg700His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44253241G>ACA8600099SLC4A1c.2188C>T (p.Arg730Cys)
c.1090C>T (p.Arg364Cys)
c.1993C>T (p.Arg665Cys)
c.2098C>T (p.Arg700Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.44253241G>CCA399781631SLC4A1c.2188C>G (p.Arg730Gly)
c.1090C>G (p.Arg364Gly)
c.1993C>G (p.Arg665Gly)
c.2098C>G (p.Arg700Gly)
17g.44253241G=CA2261307675SLC4A1c.2188C= (p.Arg730=)
c.1090C= (p.Arg364=)
c.1993C= (p.Arg665=)
c.2098C= (p.Arg700=)
17g.44253241G>TCA399781630SLC4A1c.2188C>A (p.Arg730Ser)
c.1090C>A (p.Arg364Ser)
c.1993C>A (p.Arg665Ser)
c.2098C>A (p.Arg700Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.44253242C>ACA500619013SLC4A1c.2187G>T (p.Val729=)
c.1089G>T (p.Val363=)
c.1992G>T (p.Val664=)
c.2097G>T (p.Val699=)
17g.44253242C=CA2261307676SLC4A1c.2187G= (p.Val729=)
c.1089G= (p.Val363=)
c.1992G= (p.Val664=)
c.2097G= (p.Val699=)
17g.44253242C>GCA500619014SLC4A1c.2187G>C (p.Val729=)
c.1089G>C (p.Val363=)
c.1992G>C (p.Val664=)
c.2097G>C (p.Val699=)
17g.44253242C>TCA290927292SLC4A1c.2187G>A (p.Val729=)
c.1089G>A (p.Val363=)
c.1992G>A (p.Val664=)
c.2097G>A (p.Val699=)
 dbSNP
17g.44253243A>CCA399781632SLC4A1c.2186T>G (p.Val729Gly)
c.1088T>G (p.Val363Gly)
c.1991T>G (p.Val664Gly)
c.2096T>G (p.Val699Gly)
17g.44253243A>GCA399781633SLC4A1c.2186T>C (p.Val729Ala)
c.1088T>C (p.Val363Ala)
c.1991T>C (p.Val664Ala)
c.2096T>C (p.Val699Ala)
17g.44253243A>TCA399781634SLC4A1c.2186T>A (p.Val729Glu)
c.1088T>A (p.Val363Glu)
c.1991T>A (p.Val664Glu)
c.2096T>A (p.Val699Glu)
17g.44253244C>ACA399781635SLC4A1c.2185G>T (p.Val729Leu)
c.1087G>T (p.Val363Leu)
c.1990G>T (p.Val664Leu)
c.2095G>T (p.Val699Leu)
 COSMIC
17g.44253244C=CA2261307677SLC4A1c.2185G= (p.Val729=)
c.1087G= (p.Val363=)
c.1990G= (p.Val664=)
c.2095G= (p.Val699=)
17g.44253244C>GCA399781636SLC4A1c.2185G>C (p.Val729Leu)
c.1087G>C (p.Val363Leu)
c.1990G>C (p.Val664Leu)
c.2095G>C (p.Val699Leu)
17g.44253244C>TCA8600100SLC4A1c.2185G>A (p.Val729Met)
c.1087G>A (p.Val363Met)
c.1990G>A (p.Val664Met)
c.2095G>A (p.Val699Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.44253245G>ACA8600101SLC4A1c.2184C>T (p.Thr728=)
c.1086C>T (p.Thr362=)
c.1989C>T (p.Thr663=)
c.2094C>T (p.Thr698=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.44253245G>CCA500619015SLC4A1c.2184C>G (p.Thr728=)
c.1086C>G (p.Thr362=)
c.1989C>G (p.Thr663=)
c.2094C>G (p.Thr698=)
17g.44253245G=CA2261307678SLC4A1c.2184C= (p.Thr728=)
c.1086C= (p.Thr362=)
c.1989C= (p.Thr663=)
c.2094C= (p.Thr698=)
17g.44253245G>TCA290927294SLC4A1c.2184C>A (p.Thr728=)
c.1086C>A (p.Thr362=)
c.1989C>A (p.Thr663=)
c.2094C>A (p.Thr698=)
 dbSNP
17g.44253246G>ACA399781637SLC4A1c.2183C>T (p.Thr728Ile)
c.1085C>T (p.Thr362Ile)
c.1988C>T (p.Thr663Ile)
c.2093C>T (p.Thr698Ile)
17g.44253246G>CCA399781638SLC4A1c.2183C>G (p.Thr728Ser)
c.1085C>G (p.Thr362Ser)
c.1988C>G (p.Thr663Ser)
c.2093C>G (p.Thr698Ser)
17g.44253246G>TCA399781639SLC4A1c.2183C>A (p.Thr728Asn)
c.1085C>A (p.Thr362Asn)
c.1988C>A (p.Thr663Asn)
c.2093C>A (p.Thr698Asn)
17g.44253247T>ACA399781640SLC4A1c.2182A>T (p.Thr728Ser)
c.1084A>T (p.Thr362Ser)
c.1987A>T (p.Thr663Ser)
c.2092A>T (p.Thr698Ser)
17g.44253247T>CCA399781641SLC4A1c.2182A>G (p.Thr728Ala)
c.1084A>G (p.Thr362Ala)
c.1987A>G (p.Thr663Ala)
c.2092A>G (p.Thr698Ala)
 gnomAD v4
17g.44253247T>GCA399781642SLC4A1c.2182A>C (p.Thr728Pro)
c.1084A>C (p.Thr362Pro)
c.1987A>C (p.Thr663Pro)
c.2092A>C (p.Thr698Pro)
17g.44253248G>ACA8600103SLC4A1c.2181C>T (p.Thr727=)
c.1083C>T (p.Thr361=)
c.1986C>T (p.Thr662=)
c.2091C>T (p.Thr697=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44253248G>CCA500619016SLC4A1c.2181C>G (p.Thr727=)
c.1083C>G (p.Thr361=)
c.1986C>G (p.Thr662=)
c.2091C>G (p.Thr697=)
17g.44253248G=CA2261307679SLC4A1c.2181C= (p.Thr727=)
c.1083C= (p.Thr361=)
c.1986C= (p.Thr662=)
c.2091C= (p.Thr697=)
17g.44253248G>TCA8600102SLC4A1c.2181C>A (p.Thr727=)
c.1083C>A (p.Thr361=)
c.1986C>A (p.Thr662=)
c.2091C>A (p.Thr697=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.44253249G>ACA399781643SLC4A1c.2180C>T (p.Thr727Ile)
c.1082C>T (p.Thr361Ile)
c.1985C>T (p.Thr662Ile)
c.2090C>T (p.Thr697Ile)
17g.44253249G>CCA399781644SLC4A1c.2180C>G (p.Thr727Ser)
c.1082C>G (p.Thr361Ser)
c.1985C>G (p.Thr662Ser)
c.2090C>G (p.Thr697Ser)
17g.44253249G>TCA399781645SLC4A1c.2180C>A (p.Thr727Asn)
c.1082C>A (p.Thr361Asn)
c.1985C>A (p.Thr662Asn)
c.2090C>A (p.Thr697Asn)
17g.44253250T>ACA399781646SLC4A1c.2179A>T (p.Thr727Ser)
c.1081A>T (p.Thr361Ser)
c.1984A>T (p.Thr662Ser)
c.2089A>T (p.Thr697Ser)
 ClinVar
17g.44253250T>CCA399781647SLC4A1c.2179A>G (p.Thr727Ala)
c.1081A>G (p.Thr361Ala)
c.1984A>G (p.Thr662Ala)
c.2089A>G (p.Thr697Ala)
17g.44253250T>GCA399781648SLC4A1c.2179A>C (p.Thr727Pro)
c.1081A>C (p.Thr361Pro)
c.1984A>C (p.Thr662Pro)
c.2089A>C (p.Thr697Pro)
17g.44253251G>ACA500619017SLC4A1c.2178C>T (p.Ala726=)
c.1080C>T (p.Ala360=)
c.1983C>T (p.Ala661=)
c.2088C>T (p.Ala696=)
 dbSNP
17g.44253251G>CCA500619018SLC4A1c.2178C>G (p.Ala726=)
c.1080C>G (p.Ala360=)
c.1983C>G (p.Ala661=)
c.2088C>G (p.Ala696=)
17g.44253251G=CA2261307680SLC4A1c.2178C= (p.Ala726=)
c.1080C= (p.Ala360=)
c.1983C= (p.Ala661=)
c.2088C= (p.Ala696=)
17g.44253251G>TCA500619019SLC4A1c.2178C>A (p.Ala726=)
c.1080C>A (p.Ala360=)
c.1983C>A (p.Ala661=)
c.2088C>A (p.Ala696=)
17g.44253252G>ACA399781651SLC4A1c.2177C>T (p.Ala726Val)
c.1079C>T (p.Ala360Val)
c.1982C>T (p.Ala661Val)
c.2087C>T (p.Ala696Val)
 gnomAD v4
17g.44253252G>CCA399781649SLC4A1c.2177C>G (p.Ala726Gly)
c.1079C>G (p.Ala360Gly)
c.1982C>G (p.Ala661Gly)
c.2087C>G (p.Ala696Gly)
17g.44253252G>TCA399781650SLC4A1c.2177C>A (p.Ala726Asp)
c.1079C>A (p.Ala360Asp)
c.1982C>A (p.Ala661Asp)
c.2087C>A (p.Ala696Asp)
17g.44253253C>ACA399781652SLC4A1c.2176G>T (p.Ala726Ser)
c.1078G>T (p.Ala360Ser)
c.1981G>T (p.Ala661Ser)
c.2086G>T (p.Ala696Ser)
 gnomAD v4
17g.44253253C>GCA399781653SLC4A1c.2176G>C (p.Ala726Pro)
c.1078G>C (p.Ala360Pro)
c.1981G>C (p.Ala661Pro)
c.2086G>C (p.Ala696Pro)
17g.44253253C>TCA399781654SLC4A1c.2176G>A (p.Ala726Thr)
c.1078G>A (p.Ala360Thr)
c.1981G>A (p.Ala661Thr)
c.2086G>A (p.Ala696Thr)
 gnomAD v4
17g.44253254A>CCA399781655SLC4A1c.2175T>G (p.Ser725Arg)
c.1077T>G (p.Ser359Arg)
c.1980T>G (p.Ser660Arg)
c.2085T>G (p.Ser695Arg)
17g.44253254A>GCA500619020SLC4A1c.2175T>C (p.Ser725=)
c.1077T>C (p.Ser359=)
c.1980T>C (p.Ser660=)
c.2085T>C (p.Ser695=)
17g.44253254A>TCA399781656SLC4A1c.2175T>A (p.Ser725Arg)
c.1077T>A (p.Ser359Arg)
c.1980T>A (p.Ser660Arg)
c.2085T>A (p.Ser695Arg)
17g.44253255C>ACA399781657SLC4A1c.2174G>T (p.Ser725Ile)
c.1076G>T (p.Ser359Ile)
c.1979G>T (p.Ser660Ile)
c.2084G>T (p.Ser695Ile)
17g.44253255C=CA2261307681SLC4A1c.2174G= (p.Ser725=)
c.1076G= (p.Ser359=)
c.1979G= (p.Ser660=)
c.2084G= (p.Ser695=)
17g.44253255C>GCA399781659SLC4A1c.2174G>C (p.Ser725Thr)
c.1076G>C (p.Ser359Thr)
c.1979G>C (p.Ser660Thr)
c.2084G>C (p.Ser695Thr)
17g.44253255C>TCA399781658SLC4A1c.2174G>A (p.Ser725Asn)
c.1076G>A (p.Ser359Asn)
c.1979G>A (p.Ser660Asn)
c.2084G>A (p.Ser695Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.44253256T>ACA399781660SLC4A1c.2173A>T (p.Ser725Cys)
c.1075A>T (p.Ser359Cys)
c.1978A>T (p.Ser660Cys)
c.2083A>T (p.Ser695Cys)
17g.44253256T>CCA399781661SLC4A1c.2173A>G (p.Ser725Gly)
c.1075A>G (p.Ser359Gly)
c.1978A>G (p.Ser660Gly)
c.2083A>G (p.Ser695Gly)
17g.44253256T>GCA399781662SLC4A1c.2173A>C (p.Ser725Arg)
c.1075A>C (p.Ser359Arg)
c.1978A>C (p.Ser660Arg)
c.2083A>C (p.Ser695Arg)
 dbSNP gnomAD v4
17g.44253256T=CA2261307682SLC4A1c.2173A= (p.Ser725=)
c.1075A= (p.Ser359=)
c.1978A= (p.Ser660=)
c.2083A= (p.Ser695=)
17g.44253257G>ACA500619023SLC4A1c.2172C>T (p.Leu724=)
c.1074C>T (p.Leu358=)
c.1977C>T (p.Leu659=)
c.2082C>T (p.Leu694=)
17g.44253257G>CCA500619022SLC4A1c.2172C>G (p.Leu724=)
c.1074C>G (p.Leu358=)
c.1977C>G (p.Leu659=)
c.2082C>G (p.Leu694=)
 dbSNP
17g.44253257G=CA2261307683SLC4A1c.2172C= (p.Leu724=)
c.1074C= (p.Leu358=)
c.1977C= (p.Leu659=)
c.2082C= (p.Leu694=)
17g.44253257G>TCA500619021SLC4A1c.2172C>A (p.Leu724=)
c.1074C>A (p.Leu358=)
c.1977C>A (p.Leu659=)
c.2082C>A (p.Leu694=)
17g.44253258A>CCA399781663SLC4A1c.2171T>G (p.Leu724Arg)
c.1073T>G (p.Leu358Arg)
c.1976T>G (p.Leu659Arg)
c.2081T>G (p.Leu694Arg)
17g.44253258A>GCA399781664SLC4A1c.2171T>C (p.Leu724Pro)
c.1073T>C (p.Leu358Pro)
c.1976T>C (p.Leu659Pro)
c.2081T>C (p.Leu694Pro)
17g.44253258A>TCA399781665SLC4A1c.2171T>A (p.Leu724His)
c.1073T>A (p.Leu358His)
c.1976T>A (p.Leu659His)
c.2081T>A (p.Leu694His)
17g.44253259G>ACA399781666SLC4A1c.2170C>T (p.Leu724Phe)
c.1072C>T (p.Leu358Phe)
c.1975C>T (p.Leu659Phe)
c.2080C>T (p.Leu694Phe)
 gnomAD v4
17g.44253259G>CCA399781667SLC4A1c.2170C>G (p.Leu724Val)
c.1072C>G (p.Leu358Val)
c.1975C>G (p.Leu659Val)
c.2080C>G (p.Leu694Val)
17g.44253259G>TCA399781668SLC4A1c.2170C>A (p.Leu724Ile)
c.1072C>A (p.Leu358Ile)
c.1975C>A (p.Leu659Ile)
c.2080C>A (p.Leu694Ile)
 dbSNP
17g.44253260C>ACA399781669SLC4A1c.2169G>T (p.Trp723Cys)
c.1071G>T (p.Trp357Cys)
c.1974G>T (p.Trp658Cys)
c.2079G>T (p.Trp693Cys)
17g.44253260C=CA2261307684SLC4A1c.2169G= (p.Trp723=)
c.1071G= (p.Trp357=)
c.1974G= (p.Trp658=)
c.2079G= (p.Trp693=)
17g.44253260C>GCA399781670SLC4A1c.2169G>C (p.Trp723Cys)
c.1071G>C (p.Trp357Cys)
c.1974G>C (p.Trp658Cys)
c.2079G>C (p.Trp693Cys)
17g.44253260C>TCA399781671SLC4A1c.2169G>A (p.Trp723Ter)
c.1071G>A (p.Trp357Ter)
c.1974G>A (p.Trp658Ter)
c.2079G>A (p.Trp693Ter)
 ClinVar dbSNP
17g.44253261C>ACA290927304SLC4A1c.2168G>T (p.Trp723Leu)
c.1070G>T (p.Trp357Leu)
c.1973G>T (p.Trp658Leu)
c.2078G>T (p.Trp693Leu)
 dbSNP gnomAD v4
17g.44253261C=CA2261307685SLC4A1c.2168G= (p.Trp723=)
c.1070G= (p.Trp357=)
c.1973G= (p.Trp658=)
c.2078G= (p.Trp693=)
17g.44253261C>GCA399781673SLC4A1c.2168G>C (p.Trp723Ser)
c.1070G>C (p.Trp357Ser)
c.1973G>C (p.Trp658Ser)
c.2078G>C (p.Trp693Ser)
17g.44253261C>TCA399781672SLC4A1c.2168G>A (p.Trp723Ter)
c.1070G>A (p.Trp357Ter)
c.1973G>A (p.Trp658Ter)
c.2078G>A (p.Trp693Ter)
 gnomAD v4
17g.44253262A>CCA399781674SLC4A1c.2167T>G (p.Trp723Gly)
c.1069T>G (p.Trp357Gly)
c.1972T>G (p.Trp658Gly)
c.2077T>G (p.Trp693Gly)
17g.44253262A>GCA399781675SLC4A1c.2167T>C (p.Trp723Arg)
c.1069T>C (p.Trp357Arg)
c.1972T>C (p.Trp658Arg)
c.2077T>C (p.Trp693Arg)
17g.44253262A>TCA399781676SLC4A1c.2167T>A (p.Trp723Arg)
c.1069T>A (p.Trp357Arg)
c.1972T>A (p.Trp658Arg)
c.2077T>A (p.Trp693Arg)
17g.44253263G>ACA500619024SLC4A1c.2166C>T (p.Pro722=)
c.1068C>T (p.Pro356=)
c.1971C>T (p.Pro657=)
c.2076C>T (p.Pro692=)
17g.44253263G>CCA500619025SLC4A1c.2166C>G (p.Pro722=)
c.1068C>G (p.Pro356=)
c.1971C>G (p.Pro657=)
c.2076C>G (p.Pro692=)
 gnomAD v4
17g.44253263G>TCA500619026SLC4A1c.2166C>A (p.Pro722=)
c.1068C>A (p.Pro356=)
c.1971C>A (p.Pro657=)
c.2076C>A (p.Pro692=)
17g.44253264G>ACA399781677SLC4A1c.2165C>T (p.Pro722Leu)
c.1067C>T (p.Pro356Leu)
c.1970C>T (p.Pro657Leu)
c.2075C>T (p.Pro692Leu)
 ClinVar
17g.44253264G>CCA399781678SLC4A1c.2165C>G (p.Pro722Arg)
c.1067C>G (p.Pro356Arg)
c.1970C>G (p.Pro657Arg)
c.2075C>G (p.Pro692Arg)
17g.44253264G>TCA399781679SLC4A1c.2165C>A (p.Pro722His)
c.1067C>A (p.Pro356His)
c.1970C>A (p.Pro657His)
c.2075C>A (p.Pro692His)
17g.44253265G>ACA399781680SLC4A1c.2164C>T (p.Pro722Ser)
c.1066C>T (p.Pro356Ser)
c.1969C>T (p.Pro657Ser)
c.2074C>T (p.Pro692Ser)
17g.44253265G>CCA399781681SLC4A1c.2164C>G (p.Pro722Ala)
c.1066C>G (p.Pro356Ala)
c.1969C>G (p.Pro657Ala)
c.2074C>G (p.Pro692Ala)
17g.44253265G>TCA399781682SLC4A1c.2164C>A (p.Pro722Thr)
c.1066C>A (p.Pro356Thr)
c.1969C>A (p.Pro657Thr)
c.2074C>A (p.Pro692Thr)
17g.44253266C>ACA399781683SLC4A1c.2163G>T (p.Met721Ile)
c.1065G>T (p.Met355Ile)
c.1968G>T (p.Met656Ile)
c.2073G>T (p.Met691Ile)
17g.44253266C=CA2261307686SLC4A1c.2163G= (p.Met721=)
c.1065G= (p.Met355=)
c.1968G= (p.Met656=)
c.2073G= (p.Met691=)
17g.44253266C>GCA399781684SLC4A1c.2163G>C (p.Met721Ile)
c.1065G>C (p.Met355Ile)
c.1968G>C (p.Met656Ile)
c.2073G>C (p.Met691Ile)
17g.44253266C>TCA8600104SLC4A1c.2163G>A (p.Met721Ile)
c.1065G>A (p.Met355Ile)
c.1968G>A (p.Met656Ile)
c.2073G>A (p.Met691Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44253267A>CCA399781685SLC4A1c.2162T>G (p.Met721Arg)
c.1064T>G (p.Met355Arg)
c.1967T>G (p.Met656Arg)
c.2072T>G (p.Met691Arg)
17g.44253267A>GCA399781687SLC4A1c.2162T>C (p.Met721Thr)
c.1064T>C (p.Met355Thr)
c.1967T>C (p.Met656Thr)
c.2072T>C (p.Met691Thr)
17g.44253267A>TCA399781686SLC4A1c.2162T>A (p.Met721Lys)
c.1064T>A (p.Met355Lys)
c.1967T>A (p.Met656Lys)
c.2072T>A (p.Met691Lys)
17g.44253268T>ACA290927319SLC4A1c.2161A>T (p.Met721Leu)
c.1063A>T (p.Met355Leu)
c.1966A>T (p.Met656Leu)
c.2071A>T (p.Met691Leu)
 dbSNP gnomAD v3 gnomAD v4
17g.44253268T>CCA399781689SLC4A1c.2161A>G (p.Met721Val)
c.1063A>G (p.Met355Val)
c.1966A>G (p.Met656Val)
c.2071A>G (p.Met691Val)
17g.44253268T>GCA399781688SLC4A1c.2161A>C (p.Met721Leu)
c.1063A>C (p.Met355Leu)
c.1966A>C (p.Met656Leu)
c.2071A>C (p.Met691Leu)
17g.44253268T=CA2261307687SLC4A1c.2161A= (p.Met721=)
c.1063A= (p.Met355=)
c.1966A= (p.Met656=)
c.2071A= (p.Met691=)
17g.44253269C>ACA500619027SLC4A1c.2160G>T (p.Gly720=)
c.1062G>T (p.Gly354=)
c.1965G>T (p.Gly655=)
c.2070G>T (p.Gly690=)
 gnomAD v4
17g.44253269C=CA2261307688SLC4A1c.2160G= (p.Gly720=)
c.1062G= (p.Gly354=)
c.1965G= (p.Gly655=)
c.2070G= (p.Gly690=)
17g.44253269C>GCA500619028SLC4A1c.2160G>C (p.Gly720=)
c.1062G>C (p.Gly354=)
c.1965G>C (p.Gly655=)
c.2070G>C (p.Gly690=)
17g.44253269C>TCA8600105SLC4A1c.2160G>A (p.Gly720=)
c.1062G>A (p.Gly354=)
c.1965G>A (p.Gly655=)
c.2070G>A (p.Gly690=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44253270C>ACA399781690SLC4A1c.2159G>T (p.Gly720Val)
c.1061G>T (p.Gly354Val)
c.1964G>T (p.Gly655Val)
c.2069G>T (p.Gly690Val)
 ClinVar
17g.44253270C>GCA399781691SLC4A1c.2159G>C (p.Gly720Ala)
c.1061G>C (p.Gly354Ala)
c.1964G>C (p.Gly655Ala)
c.2069G>C (p.Gly690Ala)
17g.44253270C>TCA399781692SLC4A1c.2159G>A (p.Gly720Glu)
c.1061G>A (p.Gly354Glu)
c.1964G>A (p.Gly655Glu)
c.2069G>A (p.Gly690Glu)
 COSMIC
17g.44253271C>ACA399781693SLC4A1c.2158G>T (p.Gly720Trp)
c.1060G>T (p.Gly354Trp)
c.1963G>T (p.Gly655Trp)
c.2068G>T (p.Gly690Trp)
17g.44253271C>GCA399781694SLC4A1c.2158G>C (p.Gly720Arg)
c.1060G>C (p.Gly354Arg)
c.1963G>C (p.Gly655Arg)
c.2068G>C (p.Gly690Arg)
17g.44253271C>TCA399781695SLC4A1c.2158G>A (p.Gly720Arg)
c.1060G>A (p.Gly354Arg)
c.1963G>A (p.Gly655Arg)
c.2068G>A (p.Gly690Arg)
17g.44253272A=CA2261307689SLC4A1c.2157T= (p.Phe719=)
c.1059T= (p.Phe353=)
c.1962T= (p.Phe654=)
c.2067T= (p.Phe689=)
17g.44253272A>CCA399781696SLC4A1c.2157T>G (p.Phe719Leu)
c.1059T>G (p.Phe353Leu)
c.1962T>G (p.Phe654Leu)
c.2067T>G (p.Phe689Leu)
 dbSNP gnomAD v3 gnomAD v4
17g.44253272A>GCA500619029SLC4A1c.2157T>C (p.Phe719=)
c.1059T>C (p.Phe353=)
c.1962T>C (p.Phe654=)
c.2067T>C (p.Phe689=)
 dbSNP gnomAD v2 gnomAD v4
17g.44253272A>TCA399781697SLC4A1c.2157T>A (p.Phe719Leu)
c.1059T>A (p.Phe353Leu)
c.1962T>A (p.Phe654Leu)
c.2067T>A (p.Phe689Leu)
17g.44253273A>CCA399781698SLC4A1c.2156T>G (p.Phe719Cys)
c.1058T>G (p.Phe353Cys)
c.1961T>G (p.Phe654Cys)
c.2066T>G (p.Phe689Cys)
17g.44253273A>GCA399781699SLC4A1c.2156T>C (p.Phe719Ser)
c.1058T>C (p.Phe353Ser)
c.1961T>C (p.Phe654Ser)
c.2066T>C (p.Phe689Ser)
17g.44253273A>TCA399781700SLC4A1c.2156T>A (p.Phe719Tyr)
c.1058T>A (p.Phe353Tyr)
c.1961T>A (p.Phe654Tyr)
c.2066T>A (p.Phe689Tyr)
17g.44253274A>CCA399781701SLC4A1c.2155T>G (p.Phe719Val)
c.1057T>G (p.Phe353Val)
c.1960T>G (p.Phe654Val)
c.2065T>G (p.Phe689Val)
17g.44253274A>GCA399781703SLC4A1c.2155T>C (p.Phe719Leu)
c.1057T>C (p.Phe353Leu)
c.1960T>C (p.Phe654Leu)
c.2065T>C (p.Phe689Leu)
17g.44253274A>TCA399781702SLC4A1c.2155T>A (p.Phe719Ile)
c.1057T>A (p.Phe353Ile)
c.1960T>A (p.Phe654Ile)
c.2065T>A (p.Phe689Ile)
17g.44253275G>ACA500619030SLC4A1c.2154C>T (p.Leu718=)
c.1056C>T (p.Leu352=)
c.1959C>T (p.Leu653=)
c.2064C>T (p.Leu688=)
 COSMIC
17g.44253275G>CCA500619031SLC4A1c.2154C>G (p.Leu718=)
c.1056C>G (p.Leu352=)
c.1959C>G (p.Leu653=)
c.2064C>G (p.Leu688=)
17g.44253275G>TCA500619032SLC4A1c.2154C>A (p.Leu718=)
c.1056C>A (p.Leu352=)
c.1959C>A (p.Leu653=)
c.2064C>A (p.Leu688=)
17g.44253276A>CCA399781704SLC4A1c.2153T>G (p.Leu718Arg)
c.1055T>G (p.Leu352Arg)
c.1958T>G (p.Leu653Arg)
c.2063T>G (p.Leu688Arg)
17g.44253276A>GCA399781705SLC4A1c.2153T>C (p.Leu718Pro)
c.1055T>C (p.Leu352Pro)
c.1958T>C (p.Leu653Pro)
c.2063T>C (p.Leu688Pro)
17g.44253276A>TCA399781706SLC4A1c.2153T>A (p.Leu718His)
c.1055T>A (p.Leu352His)
c.1958T>A (p.Leu653His)
c.2063T>A (p.Leu688His)
17g.44253277G>ACA399781707SLC4A1c.2152C>T (p.Leu718Phe)
c.1054C>T (p.Leu352Phe)
c.1957C>T (p.Leu653Phe)
c.2062C>T (p.Leu688Phe)
17g.44253277G>CCA399781708SLC4A1c.2152C>G (p.Leu718Val)
c.1054C>G (p.Leu352Val)
c.1957C>G (p.Leu653Val)
c.2062C>G (p.Leu688Val)
 gnomAD v4
17g.44253277G>TCA399781709SLC4A1c.2152C>A (p.Leu718Ile)
c.1054C>A (p.Leu352Ile)
c.1957C>A (p.Leu653Ile)
c.2062C>A (p.Leu688Ile)
17g.44253278G>ACA500618852SLC4A1c.2151C>T (p.Ala717=)
c.1053C>T (p.Ala351=)
c.1956C>T (p.Ala652=)
c.2061C>T (p.Ala687=)
 dbSNP gnomAD v3 gnomAD v4
17g.44253278G>CCA500618853SLC4A1c.2151C>G (p.Ala717=)
c.1053C>G (p.Ala351=)
c.1956C>G (p.Ala652=)
c.2061C>G (p.Ala687=)
17g.44253278G=CA2261307690SLC4A1c.2151C= (p.Ala717=)
c.1053C= (p.Ala351=)
c.1956C= (p.Ala652=)
c.2061C= (p.Ala687=)
17g.44253278G>TCA500618854SLC4A1c.2151C>A (p.Ala717=)
c.1053C>A (p.Ala351=)
c.1956C>A (p.Ala652=)
c.2061C>A (p.Ala687=)
17g.44253279G>ACA399781710SLC4A1c.2150C>T (p.Ala717Val)
c.1052C>T (p.Ala351Val)
c.1955C>T (p.Ala652Val)
c.2060C>T (p.Ala687Val)
 gnomAD v4
17g.44253279G>CCA399781711SLC4A1c.2150C>G (p.Ala717Gly)
c.1052C>G (p.Ala351Gly)
c.1955C>G (p.Ala652Gly)
c.2060C>G (p.Ala687Gly)
17g.44253279G>TCA399781712SLC4A1c.2150C>A (p.Ala717Asp)
c.1052C>A (p.Ala351Asp)
c.1955C>A (p.Ala652Asp)
c.2060C>A (p.Ala687Asp)
17g.44253280C>ACA399781713SLC4A1c.2149G>T (p.Ala717Ser)
c.1051G>T (p.Ala351Ser)
c.1954G>T (p.Ala652Ser)
c.2059G>T (p.Ala687Ser)
 gnomAD v4
17g.44253280C=CA2261307691SLC4A1c.2149G= (p.Ala717=)
c.1051G= (p.Ala351=)
c.1954G= (p.Ala652=)
c.2059G= (p.Ala687=)
17g.44253280C>GCA399781714SLC4A1c.2149G>C (p.Ala717Pro)
c.1051G>C (p.Ala351Pro)
c.1954G>C (p.Ala652Pro)
c.2059G>C (p.Ala687Pro)
17g.44253280C>TCA8600106SLC4A1c.2149G>A (p.Ala717Thr)
c.1051G>A (p.Ala351Thr)
c.1954G>A (p.Ala652Thr)
c.2059G>A (p.Ala687Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44253281G>ACA8600107SLC4A1c.2148C>T (p.Ala716=)
c.1050C>T (p.Ala350=)
c.1953C>T (p.Ala651=)
c.2058C>T (p.Ala686=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44253281G>CCA500618856SLC4A1c.2148C>G (p.Ala716=)
c.1050C>G (p.Ala350=)
c.1953C>G (p.Ala651=)
c.2058C>G (p.Ala686=)
 gnomAD v4
17g.44253281G=CA2261307692SLC4A1c.2148C= (p.Ala716=)
c.1050C= (p.Ala350=)
c.1953C= (p.Ala651=)
c.2058C= (p.Ala686=)
17g.44253281G>TCA500618855SLC4A1c.2148C>A (p.Ala716=)
c.1050C>A (p.Ala350=)
c.1953C>A (p.Ala651=)
c.2058C>A (p.Ala686=)
 gnomAD v4
17g.44253282G>ACA399781715SLC4A1c.2147C>T (p.Ala716Val)
c.1049C>T (p.Ala350Val)
c.1952C>T (p.Ala651Val)
c.2057C>T (p.Ala686Val)
 gnomAD v4
17g.44253282G>CCA399781716SLC4A1c.2147C>G (p.Ala716Gly)
c.1049C>G (p.Ala350Gly)
c.1952C>G (p.Ala651Gly)
c.2057C>G (p.Ala686Gly)
17g.44253282G>TCA399781717SLC4A1c.2147C>A (p.Ala716Asp)
c.1049C>A (p.Ala350Asp)
c.1952C>A (p.Ala651Asp)
c.2057C>A (p.Ala686Asp)
 COSMIC
17g.44253283C>ACA399781720SLC4A1c.2146G>T (p.Ala716Ser)
c.1048G>T (p.Ala350Ser)
c.1951G>T (p.Ala651Ser)
c.2056G>T (p.Ala686Ser)
17g.44253283C>GCA399781719SLC4A1c.2146G>C (p.Ala716Pro)
c.1048G>C (p.Ala350Pro)
c.1951G>C (p.Ala651Pro)
c.2056G>C (p.Ala686Pro)
17g.44253283C>TCA399781718SLC4A1c.2146G>A (p.Ala716Thr)
c.1048G>A (p.Ala350Thr)
c.1951G>A (p.Ala651Thr)
c.2056G>A (p.Ala686Thr)
17g.44253284C>ACA500618857SLC4A1c.2145G>T (p.Val715=)
c.1047G>T (p.Val349=)
c.1950G>T (p.Val650=)
c.2055G>T (p.Val685=)
17g.44253284C>GCA500618858SLC4A1c.2145G>C (p.Val715=)
c.1047G>C (p.Val349=)
c.1950G>C (p.Val650=)
c.2055G>C (p.Val685=)
17g.44253284C>TCA500618859SLC4A1c.2145G>A (p.Val715=)
c.1047G>A (p.Val349=)
c.1950G>A (p.Val650=)
c.2055G>A (p.Val685=)
 gnomAD v4
17g.44253285A=CA2261307693SLC4A1c.2144T= (p.Val715=)
c.1046T= (p.Val349=)
c.1949T= (p.Val650=)
c.2054T= (p.Val685=)
17g.44253285A>CCA399781721SLC4A1c.2144T>G (p.Val715Gly)
c.1046T>G (p.Val349Gly)
c.1949T>G (p.Val650Gly)
c.2054T>G (p.Val685Gly)
 dbSNP gnomAD v4
17g.44253285A>GCA399781722SLC4A1c.2144T>C (p.Val715Ala)
c.1046T>C (p.Val349Ala)
c.1949T>C (p.Val650Ala)
c.2054T>C (p.Val685Ala)
 gnomAD v4
17g.44253285A>TCA399781723SLC4A1c.2144T>A (p.Val715Glu)
c.1046T>A (p.Val349Glu)
c.1949T>A (p.Val650Glu)
c.2054T>A (p.Val685Glu)
17g.44253286C>ACA399781724SLC4A1c.2143G>T (p.Val715Leu)
c.1045G>T (p.Val349Leu)
c.1948G>T (p.Val650Leu)
c.2053G>T (p.Val685Leu)
 dbSNP
17g.44253286C=CA2261307694SLC4A1c.2143G= (p.Val715=)
c.1045G= (p.Val349=)
c.1948G= (p.Val650=)
c.2053G= (p.Val685=)
17g.44253286C>GCA399781725SLC4A1c.2143G>C (p.Val715Leu)
c.1045G>C (p.Val349Leu)
c.1948G>C (p.Val650Leu)
c.2053G>C (p.Val685Leu)
17g.44253286C>TCA399781726SLC4A1c.2143G>A (p.Val715Met)
c.1045G>A (p.Val349Met)
c.1948G>A (p.Val650Met)
c.2053G>A (p.Val685Met)
17g.44253287C>ACA500618860SLC4A1c.2142G>T (p.Gly714=)
c.1044G>T (p.Gly348=)
c.1947G>T (p.Gly649=)
c.2052G>T (p.Gly684=)
17g.44253287C>GCA500618862SLC4A1c.2142G>C (p.Gly714=)
c.1044G>C (p.Gly348=)
c.1947G>C (p.Gly649=)
c.2052G>C (p.Gly684=)
17g.44253287C>TCA500618861SLC4A1c.2142G>A (p.Gly714=)
c.1044G>A (p.Gly348=)
c.1947G>A (p.Gly649=)
c.2052G>A (p.Gly684=)
17g.44253288C>ACA399781727SLC4A1c.2141G>T (p.Gly714Val)
c.1043G>T (p.Gly348Val)
c.1946G>T (p.Gly649Val)
c.2051G>T (p.Gly684Val)
17g.44253288C>GCA399781729SLC4A1c.2141G>C (p.Gly714Ala)
c.1043G>C (p.Gly348Ala)
c.1946G>C (p.Gly649Ala)
c.2051G>C (p.Gly684Ala)
17g.44253288C>TCA399781728SLC4A1c.2141G>A (p.Gly714Glu)
c.1043G>A (p.Gly348Glu)
c.1946G>A (p.Gly649Glu)
c.2051G>A (p.Gly684Glu)
17g.44253289C>ACA399781730SLC4A1c.2140G>T (p.Gly714Trp)
c.1042G>T (p.Gly348Trp)
c.1945G>T (p.Gly649Trp)
c.2050G>T (p.Gly684Trp)
17g.44253289C>GCA399781731SLC4A1c.2140G>C (p.Gly714Arg)
c.1042G>C (p.Gly348Arg)
c.1945G>C (p.Gly649Arg)
c.2050G>C (p.Gly684Arg)
17g.44253289C>TCA399781732SLC4A1c.2140G>A (p.Gly714Arg)
c.1042G>A (p.Gly348Arg)
c.1945G>A (p.Gly649Arg)
c.2050G>A (p.Gly684Arg)
17g.44253290A=CA2261307695SLC4A1c.2139T= (p.Gly713=)
c.1041T= (p.Gly347=)
c.1944T= (p.Gly648=)
c.2049T= (p.Gly683=)
17g.44253290A>CCA500618863SLC4A1c.2139T>G (p.Gly713=)
c.1041T>G (p.Gly347=)
c.1944T>G (p.Gly648=)
c.2049T>G (p.Gly683=)
 dbSNP
17g.44253290A>GCA500618864SLC4A1c.2139T>C (p.Gly713=)
c.1041T>C (p.Gly347=)
c.1944T>C (p.Gly648=)
c.2049T>C (p.Gly683=)
17g.44253290A>TCA500618865SLC4A1c.2139T>A (p.Gly713=)
c.1041T>A (p.Gly347=)
c.1944T>A (p.Gly648=)
c.2049T>A (p.Gly683=)
17g.44253291C>ACA399781733SLC4A1c.2138G>T (p.Gly713Val)
c.1040G>T (p.Gly347Val)
c.1943G>T (p.Gly648Val)
c.2048G>T (p.Gly683Val)
17g.44253291C>GCA399781734SLC4A1c.2138G>C (p.Gly713Ala)
c.1040G>C (p.Gly347Ala)
c.1943G>C (p.Gly648Ala)
c.2048G>C (p.Gly683Ala)
17g.44253291C>TCA399781735SLC4A1c.2138G>A (p.Gly713Asp)
c.1040G>A (p.Gly347Asp)
c.1943G>A (p.Gly648Asp)
c.2048G>A (p.Gly683Asp)
17g.44253292C>ACA399781736SLC4A1c.2137G>T (p.Gly713Cys)
c.1039G>T (p.Gly347Cys)
c.1942G>T (p.Gly648Cys)
c.2047G>T (p.Gly683Cys)
17g.44253292C>GCA399781737SLC4A1c.2137G>C (p.Gly713Arg)
c.1039G>C (p.Gly347Arg)
c.1942G>C (p.Gly648Arg)
c.2047G>C (p.Gly683Arg)
 ClinVar
17g.44253292C>TCA399781738SLC4A1c.2137G>A (p.Gly713Ser)
c.1039G>A (p.Gly347Ser)
c.1942G>A (p.Gly648Ser)
c.2047G>A (p.Gly683Ser)
17g.44253293C>ACA399781739SLC4A1c.2136G>T (p.Met712Ile)
c.1038G>T (p.Met346Ile)
c.1941G>T (p.Met647Ile)
c.2046G>T (p.Met682Ile)
17g.44253293C>GCA399781740SLC4A1c.2136G>C (p.Met712Ile)
c.1038G>C (p.Met346Ile)
c.1941G>C (p.Met647Ile)
c.2046G>C (p.Met682Ile)
17g.44253293C>TCA399781741SLC4A1c.2136G>A (p.Met712Ile)
c.1038G>A (p.Met346Ile)
c.1941G>A (p.Met647Ile)
c.2046G>A (p.Met682Ile)
 gnomAD v4
17g.44253294A>CCA399781743SLC4A1c.2135T>G (p.Met712Arg)
c.1037T>G (p.Met346Arg)
c.1940T>G (p.Met647Arg)
c.2045T>G (p.Met682Arg)
17g.44253294A>GCA399781744SLC4A1c.2135T>C (p.Met712Thr)
c.1037T>C (p.Met346Thr)
c.1940T>C (p.Met647Thr)
c.2045T>C (p.Met682Thr)
17g.44253294A>TCA399781742SLC4A1c.2135T>A (p.Met712Lys)
c.1037T>A (p.Met346Lys)
c.1940T>A (p.Met647Lys)
c.2045T>A (p.Met682Lys)
 ClinVar
17g.44253295T>ACA399781746SLC4A1c.2134A>T (p.Met712Leu)
c.1036A>T (p.Met346Leu)
c.1939A>T (p.Met647Leu)
c.2044A>T (p.Met682Leu)
17g.44253295T>CCA399781745SLC4A1c.2134A>G (p.Met712Val)
c.1036A>G (p.Met346Val)
c.1939A>G (p.Met647Val)
c.2044A>G (p.Met682Val)
17g.44253295T>GCA399781747SLC4A1c.2134A>C (p.Met712Leu)
c.1036A>C (p.Met346Leu)
c.1939A>C (p.Met647Leu)
c.2044A>C (p.Met682Leu)
17g.44253296G>ACA500618866SLC4A1c.2133C>T (p.Gly711=)
c.1035C>T (p.Gly345=)
c.1938C>T (p.Gly646=)
c.2043C>T (p.Gly681=)
 COSMIC
17g.44253296G>CCA500618867SLC4A1c.2133C>G (p.Gly711=)
c.1035C>G (p.Gly345=)
c.1938C>G (p.Gly646=)
c.2043C>G (p.Gly681=)
17g.44253296G>TCA500618868SLC4A1c.2133C>A (p.Gly711=)
c.1035C>A (p.Gly345=)
c.1938C>A (p.Gly646=)
c.2043C>A (p.Gly681=)
17g.44253297C>ACA399781748SLC4A1c.2132G>T (p.Gly711Val)
c.1034G>T (p.Gly345Val)
c.1937G>T (p.Gly646Val)
c.2042G>T (p.Gly681Val)
 gnomAD v4 COSMIC
17g.44253297C>GCA399781749SLC4A1c.2132G>C (p.Gly711Ala)
c.1034G>C (p.Gly345Ala)
c.1937G>C (p.Gly646Ala)
c.2042G>C (p.Gly681Ala)
17g.44253297C>TCA399781750SLC4A1c.2132G>A (p.Gly711Asp)
c.1034G>A (p.Gly345Asp)
c.1937G>A (p.Gly646Asp)
c.2042G>A (p.Gly681Asp)
17g.44253298C>ACA399781751SLC4A1c.2131G>T (p.Gly711Cys)
c.1033G>T (p.Gly345Cys)
c.1936G>T (p.Gly646Cys)
c.2041G>T (p.Gly681Cys)
17g.44253298C=CA2261307696SLC4A1c.2131G= (p.Gly711=)
c.1033G= (p.Gly345=)
c.1936G= (p.Gly646=)
c.2041G= (p.Gly681=)
17g.44253298C>GCA399781752SLC4A1c.2131G>C (p.Gly711Arg)
c.1033G>C (p.Gly345Arg)
c.1936G>C (p.Gly646Arg)
c.2041G>C (p.Gly681Arg)
 ClinVar dbSNP
17g.44253298C>TCA8600108SLC4A1c.2131G>A (p.Gly711Ser)
c.1033G>A (p.Gly345Ser)
c.1936G>A (p.Gly646Ser)
c.2041G>A (p.Gly681Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44253299T>ACA500618869SLC4A1c.2130A>T (p.Val710=)
c.1032A>T (p.Val344=)
c.1935A>T (p.Val645=)
c.2040A>T (p.Val680=)
17g.44253299T>CCA500618870SLC4A1c.2130A>G (p.Val710=)
c.1032A>G (p.Val344=)
c.1935A>G (p.Val645=)
c.2040A>G (p.Val680=)
17g.44253299T>GCA500618871SLC4A1c.2130A>C (p.Val710=)
c.1032A>C (p.Val344=)
c.1935A>C (p.Val645=)
c.2040A>C (p.Val680=)
17g.44253299T=CA2261307697SLC4A1c.2130A= (p.Val710=)
c.1032A= (p.Val344=)
c.1935A= (p.Val645=)
c.2040A= (p.Val680=)
17g.44253299_44253300insCCA8600109SLC4A1c.2129_2130insG (p.Gly711ArgfsTer?)
c.1031_1032insG (p.Gly345ArgfsTer?)
c.1934_1935insG (p.Gly646ArgfsTer?)
c.2039_2040insG (p.Gly681ArgfsTer?)
 dbSNP ExAC gnomAD v2
17g.44253300A=CA2261307698SLC4A1c.2129T= (p.Val710=)
c.1031T= (p.Val344=)
c.1934T= (p.Val645=)
c.2039T= (p.Val680=)
17g.44253300A>CCA399781753SLC4A1c.2129T>G (p.Val710Gly)
c.1031T>G (p.Val344Gly)
c.1934T>G (p.Val645Gly)
c.2039T>G (p.Val680Gly)
17g.44253300A>GCA399781754SLC4A1c.2129T>C (p.Val710Ala)
c.1031T>C (p.Val344Ala)
c.1934T>C (p.Val645Ala)
c.2039T>C (p.Val680Ala)
17g.44253300A>TCA399781755SLC4A1c.2129T>A (p.Val710Glu)
c.1031T>A (p.Val344Glu)
c.1934T>A (p.Val645Glu)
c.2039T>A (p.Val680Glu)
17g.44253300_44253301insAGTGATCCA8600110SLC4A1c.2128_2129insGATCACT (p.Val710GlyfsTer?)
c.1030_1031insGATCACT (p.Val344GlyfsTer?)
c.1933_1934insGATCACT (p.Val645GlyfsTer?)
c.2038_2039insGATCACT (p.Val680GlyfsTer?)
 dbSNP ExAC gnomAD v2
17g.44253301C>ACA399781758SLC4A1c.2128G>T (p.Val710Leu)
c.1030G>T (p.Val344Leu)
c.1933G>T (p.Val645Leu)
c.2038G>T (p.Val680Leu)
17g.44253301C=CA2261307699SLC4A1c.2128G= (p.Val710=)
c.1030G= (p.Val344=)
c.1933G= (p.Val645=)
c.2038G= (p.Val680=)
17g.44253301C>GCA399781757SLC4A1c.2128G>C (p.Val710Leu)
c.1030G>C (p.Val344Leu)
c.1933G>C (p.Val645Leu)
c.2038G>C (p.Val680Leu)
17g.44253301C>TCA399781756SLC4A1c.2128G>A (p.Val710Ile)
c.1030G>A (p.Val344Ile)
c.1933G>A (p.Val645Ile)
c.2038G>A (p.Val680Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44253302T>ACA500618872SLC4A1c.2127A>T (p.Val709=)
c.1029A>T (p.Val343=)
c.1932A>T (p.Val644=)
c.2037A>T (p.Val679=)
17g.44253302T>CCA290927341SLC4A1c.2127A>G (p.Val709=)
c.1029A>G (p.Val343=)
c.1932A>G (p.Val644=)
c.2037A>G (p.Val679=)
 dbSNP gnomAD v4
17g.44253302T>GCA500618873SLC4A1c.2127A>C (p.Val709=)
c.1029A>C (p.Val343=)
c.1932A>C (p.Val644=)
c.2037A>C (p.Val679=)
17g.44253302T=CA2261307700SLC4A1c.2127A= (p.Val709=)
c.1029A= (p.Val343=)
c.1932A= (p.Val644=)
c.2037A= (p.Val679=)
17g.44253303A=CA2261307701SLC4A1c.2126T= (p.Val709=)
c.1028T= (p.Val343=)
c.1931T= (p.Val644=)
c.2036T= (p.Val679=)
17g.44253303A>CCA8600111SLC4A1c.2126T>G (p.Val709Gly)
c.1028T>G (p.Val343Gly)
c.1931T>G (p.Val644Gly)
c.2036T>G (p.Val679Gly)
 dbSNP ExAC gnomAD v2
17g.44253303A>GCA399781759SLC4A1c.2126T>C (p.Val709Ala)
c.1028T>C (p.Val343Ala)
c.1931T>C (p.Val644Ala)
c.2036T>C (p.Val679Ala)
17g.44253303A>TCA399781760SLC4A1c.2126T>A (p.Val709Glu)
c.1028T>A (p.Val343Glu)
c.1931T>A (p.Val644Glu)
c.2036T>A (p.Val679Glu)
17g.44253304C>ACA399781761SLC4A1c.2125G>T (p.Val709Leu)
c.1027G>T (p.Val343Leu)
c.1930G>T (p.Val644Leu)
c.2035G>T (p.Val679Leu)
17g.44253304C=CA2261307702SLC4A1c.2125G= (p.Val709=)
c.1027G= (p.Val343=)
c.1930G= (p.Val644=)
c.2035G= (p.Val679=)
17g.44253304C>GCA399781762SLC4A1c.2125G>C (p.Val709Leu)
c.1027G>C (p.Val343Leu)
c.1930G>C (p.Val644Leu)
c.2035G>C (p.Val679Leu)
17g.44253304C>TCA399781763SLC4A1c.2125G>A (p.Val709Ile)
c.1027G>A (p.Val343Ile)
c.1930G>A (p.Val644Ile)
c.2035G>A (p.Val679Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.44253305C>ACA500618874SLC4A1c.2124G>T (p.Leu708=)
c.1026G>T (p.Leu342=)
c.1929G>T (p.Leu643=)
c.2034G>T (p.Leu678=)
17g.44253305C>GCA500618875SLC4A1c.2124G>C (p.Leu708=)
c.1026G>C (p.Leu342=)
c.1929G>C (p.Leu643=)
c.2034G>C (p.Leu678=)
 gnomAD v4
17g.44253305C>TCA500618876SLC4A1c.2124G>A (p.Leu708=)
c.1026G>A (p.Leu342=)
c.1929G>A (p.Leu643=)
c.2034G>A (p.Leu678=)
17g.44253306A>CCA399781764SLC4A1c.2123T>G (p.Leu708Arg)
c.1025T>G (p.Leu342Arg)
c.1928T>G (p.Leu643Arg)
c.2033T>G (p.Leu678Arg)
17g.44253306A>GCA399781765SLC4A1c.2123T>C (p.Leu708Pro)
c.1025T>C (p.Leu342Pro)
c.1928T>C (p.Leu643Pro)
c.2033T>C (p.Leu678Pro)
17g.44253306A>TCA399781766SLC4A1c.2123T>A (p.Leu708Gln)
c.1025T>A (p.Leu342Gln)
c.1928T>A (p.Leu643Gln)
c.2033T>A (p.Leu678Gln)
17g.44253307G>ACA500618877SLC4A1c.2122C>T (p.Leu708=)
c.1024C>T (p.Leu342=)
c.1927C>T (p.Leu643=)
c.2032C>T (p.Leu678=)
17g.44253307G>CCA399781767SLC4A1c.2122C>G (p.Leu708Val)
c.1024C>G (p.Leu342Val)
c.1927C>G (p.Leu643Val)
c.2032C>G (p.Leu678Val)
17g.44253307G>TCA399781768SLC4A1c.2122C>A (p.Leu708Met)
c.1024C>A (p.Leu342Met)
c.1927C>A (p.Leu643Met)
c.2032C>A (p.Leu678Met)
17g.44253308C>ACA500618878SLC4A1c.2121G>T (p.Leu707=)
c.1023G>T (p.Leu341=)
c.1926G>T (p.Leu642=)
c.2031G>T (p.Leu677=)
17g.44253308C>GCA500618879SLC4A1c.2121G>C (p.Leu707=)
c.1023G>C (p.Leu341=)
c.1926G>C (p.Leu642=)
c.2031G>C (p.Leu677=)
17g.44253308C>TCA500618880SLC4A1c.2121G>A (p.Leu707=)
c.1023G>A (p.Leu341=)
c.1926G>A (p.Leu642=)
c.2031G>A (p.Leu677=)
17g.44253309A>CCA399781770SLC4A1c.2120T>G (p.Leu707Arg)
c.1022T>G (p.Leu341Arg)
c.1925T>G (p.Leu642Arg)
c.2030T>G (p.Leu677Arg)
17g.44253309A>GCA399781771SLC4A1c.2120T>C (p.Leu707Pro)
c.1022T>C (p.Leu341Pro)
c.1925T>C (p.Leu642Pro)
c.2030T>C (p.Leu677Pro)
17g.44253309A>TCA399781769SLC4A1c.2120T>A (p.Leu707Gln)
c.1022T>A (p.Leu341Gln)
c.1925T>A (p.Leu642Gln)
c.2030T>A (p.Leu677Gln)
17g.44253310G>ACA8600112SLC4A1c.2119C>T (p.Leu707=)
c.1021C>T (p.Leu341=)
c.1924C>T (p.Leu642=)
c.2029C>T (p.Leu677=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44253310G>CCA8600113SLC4A1c.2119C>G (p.Leu707Val)
c.1021C>G (p.Leu341Val)
c.1924C>G (p.Leu642Val)
c.2029C>G (p.Leu677Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44253310G=CA2261307703SLC4A1c.2119C= (p.Leu707=)
c.1021C= (p.Leu341=)
c.1924C= (p.Leu642=)
c.2029C= (p.Leu677=)
17g.44253310G>TCA399781772SLC4A1c.2119C>A (p.Leu707Met)
c.1021C>A (p.Leu341Met)
c.1924C>A (p.Leu642Met)
c.2029C>A (p.Leu677Met)
17g.44253311C>ACA500618882SLC4A1c.2118G>T (p.Leu706=)
c.1020G>T (p.Leu340=)
c.1923G>T (p.Leu641=)
c.2028G>T (p.Leu676=)
17g.44253311C=CA2261307704SLC4A1c.2118G= (p.Leu706=)
c.1020G= (p.Leu340=)
c.1923G= (p.Leu641=)
c.2028G= (p.Leu676=)
17g.44253311C>GCA500618881SLC4A1c.2118G>C (p.Leu706=)
c.1020G>C (p.Leu340=)
c.1923G>C (p.Leu641=)
c.2028G>C (p.Leu676=)
17g.44253311C>TCA8600114SLC4A1c.2118G>A (p.Leu706=)
c.1020G>A (p.Leu340=)
c.1923G>A (p.Leu641=)
c.2028G>A (p.Leu676=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44253312A>CCA399781773SLC4A1c.2117T>G (p.Leu706Arg)
c.1019T>G (p.Leu340Arg)
c.1922T>G (p.Leu641Arg)
c.2027T>G (p.Leu676Arg)
17g.44253312A>GCA399781774SLC4A1c.2117T>C (p.Leu706Pro)
c.1019T>C (p.Leu340Pro)
c.1922T>C (p.Leu641Pro)
c.2027T>C (p.Leu676Pro)
17g.44253312A>TCA399781775SLC4A1c.2117T>A (p.Leu706Gln)
c.1019T>A (p.Leu340Gln)
c.1922T>A (p.Leu641Gln)
c.2027T>A (p.Leu676Gln)
17g.44253313G>ACA500618883SLC4A1c.2116C>T (p.Leu706=)
c.1018C>T (p.Leu340=)
c.1921C>T (p.Leu641=)
c.2026C>T (p.Leu676=)
17g.44253313G>CCA399781776SLC4A1c.2116C>G (p.Leu706Val)
c.1018C>G (p.Leu340Val)
c.1921C>G (p.Leu641Val)
c.2026C>G (p.Leu676Val)
17g.44253313G=CA2261307705SLC4A1c.2116C= (p.Leu706=)
c.1018C= (p.Leu340=)
c.1921C= (p.Leu641=)
c.2026C= (p.Leu676=)
17g.44253313G>TCA8600115SLC4A1c.2116C>A (p.Leu706Met)
c.1018C>A (p.Leu340Met)
c.1921C>A (p.Leu641Met)
c.2026C>A (p.Leu676Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44253314G>ACA500618884SLC4A1c.2115C>T (p.Asp705=)
c.1017C>T (p.Asp339=)
c.1920C>T (p.Asp640=)
c.2025C>T (p.Asp675=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44253314G>CCA399781777SLC4A1c.2115C>G (p.Asp705Glu)
c.1017C>G (p.Asp339Glu)
c.1920C>G (p.Asp640Glu)
c.2025C>G (p.Asp675Glu)
17g.44253314G=CA2261307706SLC4A1c.2115C= (p.Asp705=)
c.1017C= (p.Asp339=)
c.1920C= (p.Asp640=)
c.2025C= (p.Asp675=)
17g.44253314G>TCA399781778SLC4A1c.2115C>A (p.Asp705Glu)
c.1017C>A (p.Asp339Glu)
c.1920C>A (p.Asp640Glu)
c.2025C>A (p.Asp675Glu)
17g.44253315T>ACA399781779SLC4A1c.2114A>T (p.Asp705Val)
c.1016A>T (p.Asp339Val)
c.1919A>T (p.Asp640Val)
c.2024A>T (p.Asp675Val)
17g.44253315T>CCA399781780SLC4A1c.2114A>G (p.Asp705Gly)
c.1016A>G (p.Asp339Gly)
c.1919A>G (p.Asp640Gly)
c.2024A>G (p.Asp675Gly)
17g.44253315T>GCA399781781SLC4A1c.2114A>C (p.Asp705Ala)
c.1016A>C (p.Asp339Ala)
c.1919A>C (p.Asp640Ala)
c.2024A>C (p.Asp675Ala)
17g.44253316C>ACA399781782SLC4A1c.2113G>T (p.Asp705Tyr)
c.1015G>T (p.Asp339Tyr)
c.1918G>T (p.Asp640Tyr)
c.2023G>T (p.Asp675Tyr)
17g.44253316C=CA2261307707SLC4A1c.2113G= (p.Asp705=)
c.1015G= (p.Asp339=)
c.1918G= (p.Asp640=)
c.2023G= (p.Asp675=)
17g.44253316C>GCA399781784SLC4A1c.2113G>C (p.Asp705His)
c.1015G>C (p.Asp339His)
c.1918G>C (p.Asp640His)
c.2023G>C (p.Asp675His)
17g.44253316C>TCA399781783SLC4A1c.2113G>A (p.Asp705Asn)
c.1015G>A (p.Asp339Asn)
c.1918G>A (p.Asp640Asn)
c.2023G>A (p.Asp675Asn)
 dbSNP gnomAD v4
17g.44253317C>ACA500618885SLC4A1c.2112G>T (p.Leu704=)
c.1014G>T (p.Leu338=)
c.1917G>T (p.Leu639=)
c.2022G>T (p.Leu674=)
17g.44253317C>GCA500618886SLC4A1c.2112G>C (p.Leu704=)
c.1014G>C (p.Leu338=)
c.1917G>C (p.Leu639=)
c.2022G>C (p.Leu674=)
17g.44253317C>TCA500618887SLC4A1c.2112G>A (p.Leu704=)
c.1014G>A (p.Leu338=)
c.1917G>A (p.Leu639=)
c.2022G>A (p.Leu674=)
 gnomAD v4
17g.44253318A=CA2261307708SLC4A1c.2111T= (p.Leu704=)
c.1013T= (p.Leu338=)
c.1916T= (p.Leu639=)
c.2021T= (p.Leu674=)
17g.44253318A>CCA399781785SLC4A1c.2111T>G (p.Leu704Arg)
c.1013T>G (p.Leu338Arg)
c.1916T>G (p.Leu639Arg)
c.2021T>G (p.Leu674Arg)
17g.44253318A>GCA399781786SLC4A1c.2111T>C (p.Leu704Pro)
c.1013T>C (p.Leu338Pro)
c.1916T>C (p.Leu639Pro)
c.2021T>C (p.Leu674Pro)
 ClinVar dbSNP
17g.44253318A>TCA399781787SLC4A1c.2111T>A (p.Leu704Gln)
c.1013T>A (p.Leu338Gln)
c.1916T>A (p.Leu639Gln)
c.2021T>A (p.Leu674Gln)
17g.44253319G>ACA500618888SLC4A1c.2110C>T (p.Leu704=)
c.1012C>T (p.Leu338=)
c.1915C>T (p.Leu639=)
c.2020C>T (p.Leu674=)
17g.44253319G>CCA399781788SLC4A1c.2110C>G (p.Leu704Val)
c.1012C>G (p.Leu338Val)
c.1915C>G (p.Leu639Val)
c.2020C>G (p.Leu674Val)
17g.44253319G>TCA399781789SLC4A1c.2110C>A (p.Leu704Met)
c.1012C>A (p.Leu338Met)
c.1915C>A (p.Leu639Met)
c.2020C>A (p.Leu674Met)
17g.44253320G>ACA500618889SLC4A1c.2109C>T (p.His703=)
c.1011C>T (p.His337=)
c.1914C>T (p.His638=)
c.2019C>T (p.His673=)
 dbSNP gnomAD v3 gnomAD v4
17g.44253320G>CCA399781790SLC4A1c.2109C>G (p.His703Gln)
c.1011C>G (p.His337Gln)
c.1914C>G (p.His638Gln)
c.2019C>G (p.His673Gln)
17g.44253320G=CA2261307709SLC4A1c.2109C= (p.His703=)
c.1011C= (p.His337=)
c.1914C= (p.His638=)
c.2019C= (p.His673=)
17g.44253320G>TCA399781791SLC4A1c.2109C>A (p.His703Gln)
c.1011C>A (p.His337Gln)
c.1914C>A (p.His638Gln)
c.2019C>A (p.His673Gln)
17g.44253321T>ACA399781792SLC4A1c.2108A>T (p.His703Leu)
c.1010A>T (p.His337Leu)
c.1913A>T (p.His638Leu)
c.2018A>T (p.His673Leu)
17g.44253321T>CCA399781793SLC4A1c.2108A>G (p.His703Arg)
c.1010A>G (p.His337Arg)
c.1913A>G (p.His638Arg)
c.2018A>G (p.His673Arg)
17g.44253321T>GCA399781794SLC4A1c.2108A>C (p.His703Pro)
c.1010A>C (p.His337Pro)
c.1913A>C (p.His638Pro)
c.2018A>C (p.His673Pro)
17g.44253322G>ACA399781795SLC4A1c.2107C>T (p.His703Tyr)
c.1009C>T (p.His337Tyr)
c.1912C>T (p.His638Tyr)
c.2017C>T (p.His673Tyr)
17g.44253322G>CCA399781796SLC4A1c.2107C>G (p.His703Asp)
c.1009C>G (p.His337Asp)
c.1912C>G (p.His638Asp)
c.2017C>G (p.His673Asp)
17g.44253322G>TCA399781797SLC4A1c.2107C>A (p.His703Asn)
c.1009C>A (p.His337Asn)
c.1912C>A (p.His638Asn)
c.2017C>A (p.His673Asn)
17g.44253323G>ACA500618893SLC4A1c.2106C>T (p.Phe702=)
c.1008C>T (p.Phe336=)
c.1911C>T (p.Phe637=)
c.2016C>T (p.Phe672=)
 gnomAD v4
17g.44253323G>CCA399781798SLC4A1c.2106C>G (p.Phe702Leu)
c.1008C>G (p.Phe336Leu)
c.1911C>G (p.Phe637Leu)
c.2016C>G (p.Phe672Leu)
17g.44253323G>TCA399781799SLC4A1c.2106C>A (p.Phe702Leu)
c.1008C>A (p.Phe336Leu)
c.1911C>A (p.Phe637Leu)
c.2016C>A (p.Phe672Leu)
17g.44253324A>CCA399781800SLC4A1c.2105T>G (p.Phe702Cys)
c.1007T>G (p.Phe336Cys)
c.1910T>G (p.Phe637Cys)
c.2015T>G (p.Phe672Cys)
17g.44253324A>GCA399781802SLC4A1c.2105T>C (p.Phe702Ser)
c.1007T>C (p.Phe336Ser)
c.1910T>C (p.Phe637Ser)
c.2015T>C (p.Phe672Ser)
17g.44253324A>TCA399781801SLC4A1c.2105T>A (p.Phe702Tyr)
c.1007T>A (p.Phe336Tyr)
c.1910T>A (p.Phe637Tyr)
c.2015T>A (p.Phe672Tyr)
17g.44253325dupCA2580093857SLC4A1c.2105dup (p.His703ProfsTer?)
c.1007dup (p.His337ProfsTer?)
c.1910dup (p.His638ProfsTer?)
c.2015dup (p.His673ProfsTer?)
 ClinVar
17g.44253325A>CCA399781803SLC4A1c.2104T>G (p.Phe702Val)
c.1006T>G (p.Phe336Val)
c.1909T>G (p.Phe637Val)
c.2014T>G (p.Phe672Val)
17g.44253325A>GCA399781804SLC4A1c.2104T>C (p.Phe702Leu)
c.1006T>C (p.Phe336Leu)
c.1909T>C (p.Phe637Leu)
c.2014T>C (p.Phe672Leu)
17g.44253325A>TCA399781805SLC4A1c.2104T>A (p.Phe702Ile)
c.1006T>A (p.Phe336Ile)
c.1909T>A (p.Phe637Ile)
c.2014T>A (p.Phe672Ile)
17g.44253326G>ACA500618897SLC4A1c.2103C>T (p.Gly701=)
c.1005C>T (p.Gly335=)
c.1908C>T (p.Gly636=)
c.2013C>T (p.Gly671=)
17g.44253326G>CCA500618898SLC4A1c.2103C>G (p.Gly701=)
c.1005C>G (p.Gly335=)
c.1908C>G (p.Gly636=)
c.2013C>G (p.Gly671=)
17g.44253326G>TCA500618899SLC4A1c.2103C>A (p.Gly701=)
c.1005C>A (p.Gly335=)
c.1908C>A (p.Gly636=)
c.2013C>A (p.Gly671=)
17g.44253327C>ACA399781806SLC4A1c.2102G>T (p.Gly701Val)
c.1004G>T (p.Gly335Val)
c.1907G>T (p.Gly636Val)
c.2012G>T (p.Gly671Val)
17g.44253327C=CA2261307710SLC4A1c.2102G= (p.Gly701=)
c.1004G= (p.Gly335=)
c.1907G= (p.Gly636=)
c.2012G= (p.Gly671=)
17g.44253327C>GCA399781807SLC4A1c.2102G>C (p.Gly701Ala)
c.1004G>C (p.Gly335Ala)
c.1907G>C (p.Gly636Ala)
c.2012G>C (p.Gly671Ala)
17g.44253327C>TCA127391SLC4A1c.2102G>A (p.Gly701Asp)
c.1004G>A (p.Gly335Asp)
c.1907G>A (p.Gly636Asp)
c.2012G>A (p.Gly671Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.44253328C>ACA399781808SLC4A1c.2101G>T (p.Gly701Cys)
c.1003G>T (p.Gly335Cys)
c.1906G>T (p.Gly636Cys)
c.2011G>T (p.Gly671Cys)
 dbSNP gnomAD v2
17g.44253328C=CA2261307711SLC4A1c.2101G= (p.Gly701=)
c.1003G= (p.Gly335=)
c.1906G= (p.Gly636=)
c.2011G= (p.Gly671=)
17g.44253328C>GCA399781809SLC4A1c.2101G>C (p.Gly701Arg)
c.1003G>C (p.Gly335Arg)
c.1906G>C (p.Gly636Arg)
c.2011G>C (p.Gly671Arg)
17g.44253328C>TCA8600116SLC4A1c.2101G>A (p.Gly701Ser)
c.1003G>A (p.Gly335Ser)
c.1906G>A (p.Gly636Ser)
c.2011G>A (p.Gly671Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44253329G>ACA8600117SLC4A1c.2100C>T (p.Ser700=)
c.1002C>T (p.Ser334=)
c.1905C>T (p.Ser635=)
c.2010C>T (p.Ser670=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44253329G>CCA500618903SLC4A1c.2100C>G (p.Ser700=)
c.1002C>G (p.Ser334=)
c.1905C>G (p.Ser635=)
c.2010C>G (p.Ser670=)
17g.44253329G=CA2261307712SLC4A1c.2100C= (p.Ser700=)
c.1002C= (p.Ser334=)
c.1905C= (p.Ser635=)
c.2010C= (p.Ser670=)
17g.44253329G>TCA500618904SLC4A1c.2100C>A (p.Ser700=)
c.1002C>A (p.Ser334=)
c.1905C>A (p.Ser635=)
c.2010C>A (p.Ser670=)
 gnomAD v4
17g.44253330delCA2573153930SLC4A1c.2100del (p.Gly701AlafsTer9)
c.1002del (p.Gly335AlafsTer9)
c.1905del (p.Gly636AlafsTer9)
c.2010del (p.Gly671AlafsTer9)
 ClinVar dbSNP

Number of alleles fetched