Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
20g.3228922T>ACA408087003SLC4A11c.2108A>T (p.His703Leu)
c.2039A>T (p.His680Leu)
c.1979A>T (p.His660Leu)
c.1994A>T (p.His665Leu)
c.2156A>T (p.His719Leu)
c.2237A>T (p.His746Leu)
c.*256A>T (n.*256A>T)
c.2477A>T (p.His826Leu)
c.2051A>T (p.His684Leu)
c.2075A>T (p.His692Leu)
n.2206A>T
c.2471A>T (p.His824Leu)
n.2651A>T
n.2631A>T
c.2123A>T (p.His708Leu)
n.2616A>T
20g.3228922T>CCA408087004SLC4A11c.2108A>G (p.His703Arg)
c.2039A>G (p.His680Arg)
c.1979A>G (p.His660Arg)
c.1994A>G (p.His665Arg)
c.2156A>G (p.His719Arg)
c.2237A>G (p.His746Arg)
c.*256A>G (n.*256A>G)
c.2477A>G (p.His826Arg)
c.2051A>G (p.His684Arg)
c.2075A>G (p.His692Arg)
n.2206A>G
c.2471A>G (p.His824Arg)
n.2651A>G
n.2631A>G
c.2123A>G (p.His708Arg)
n.2616A>G
 dbSNP gnomAD v2 gnomAD v4
20g.3228922T>GCA408087005SLC4A11c.2108A>C (p.His703Pro)
c.2039A>C (p.His680Pro)
c.1979A>C (p.His660Pro)
c.1994A>C (p.His665Pro)
c.2156A>C (p.His719Pro)
c.2237A>C (p.His746Pro)
c.*256A>C (n.*256A>C)
c.2477A>C (p.His826Pro)
c.2051A>C (p.His684Pro)
c.2075A>C (p.His692Pro)
n.2206A>C
c.2471A>C (p.His824Pro)
n.2651A>C
n.2631A>C
c.2123A>C (p.His708Pro)
n.2616A>C
20g.3228922T=CA2346475242SLC4A11c.2108A= (p.His703=)
c.2039A= (p.His680=)
c.1979A= (p.His660=)
c.1994A= (p.His665=)
c.2156A= (p.His719=)
c.2237A= (p.His746=)
c.*256A= (n.*256A=)
c.2477A= (p.His826=)
c.2051A= (p.His684=)
c.2075A= (p.His692=)
n.2206A=
c.2471A= (p.His824=)
n.2651A=
n.2631A=
c.2123A= (p.His708=)
n.2616A=
20g.3228923G>ACA408087006SLC4A11c.2107C>T (p.His703Tyr)
c.2038C>T (p.His680Tyr)
c.1978C>T (p.His660Tyr)
c.1993C>T (p.His665Tyr)
c.2155C>T (p.His719Tyr)
c.2236C>T (p.His746Tyr)
c.*255C>T (n.*255C>T)
c.2476C>T (p.His826Tyr)
c.2050C>T (p.His684Tyr)
c.2074C>T (p.His692Tyr)
n.2205C>T
c.2470C>T (p.His824Tyr)
n.2650C>T
n.2630C>T
c.2122C>T (p.His708Tyr)
n.2615C>T
 gnomAD v4 COSMIC COSMIC
20g.3228923G>CCA408087007SLC4A11c.2107C>G (p.His703Asp)
c.2038C>G (p.His680Asp)
c.1978C>G (p.His660Asp)
c.1993C>G (p.His665Asp)
c.2155C>G (p.His719Asp)
c.2236C>G (p.His746Asp)
c.*255C>G (n.*255C>G)
c.2476C>G (p.His826Asp)
c.2050C>G (p.His684Asp)
c.2074C>G (p.His692Asp)
n.2205C>G
c.2470C>G (p.His824Asp)
n.2650C>G
n.2630C>G
c.2122C>G (p.His708Asp)
n.2615C>G
20g.3228923G>TCA408087008SLC4A11c.2107C>A (p.His703Asn)
c.2038C>A (p.His680Asn)
c.1978C>A (p.His660Asn)
c.1993C>A (p.His665Asn)
c.2155C>A (p.His719Asn)
c.2236C>A (p.His746Asn)
c.*255C>A (n.*255C>A)
c.2476C>A (p.His826Asn)
c.2050C>A (p.His684Asn)
c.2074C>A (p.His692Asn)
n.2205C>A
c.2470C>A (p.His824Asn)
n.2650C>A
n.2630C>A
c.2122C>A (p.His708Asn)
n.2615C>A
20g.3228924G>ACA9741592SLC4A11c.2106C>T (p.Ile702=)
c.2037C>T (p.Ile679=)
c.1977C>T (p.Ile659=)
c.1992C>T (p.Ile664=)
c.2154C>T (p.Ile718=)
c.2235C>T (p.Ile745=)
c.*254C>T (n.*254C>T)
c.2475C>T (p.Ile825=)
c.2049C>T (p.Ile683=)
c.2073C>T (p.Ile691=)
n.2204C>T
c.2469C>T (p.Ile823=)
n.2649C>T
n.2629C>T
c.2121C>T (p.Ile707=)
n.2614C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228924G>CCA408087009SLC4A11c.2106C>G (p.Ile702Met)
c.2037C>G (p.Ile679Met)
c.1977C>G (p.Ile659Met)
c.1992C>G (p.Ile664Met)
c.2154C>G (p.Ile718Met)
c.2235C>G (p.Ile745Met)
c.*254C>G (n.*254C>G)
c.2475C>G (p.Ile825Met)
c.2049C>G (p.Ile683Met)
c.2073C>G (p.Ile691Met)
n.2204C>G
c.2469C>G (p.Ile823Met)
n.2649C>G
n.2629C>G
c.2121C>G (p.Ile707Met)
n.2614C>G
20g.3228924G=CA2346475243SLC4A11c.2106C= (p.Ile702=)
c.2037C= (p.Ile679=)
c.1977C= (p.Ile659=)
c.1992C= (p.Ile664=)
c.2154C= (p.Ile718=)
c.2235C= (p.Ile745=)
c.*254C= (n.*254C=)
c.2475C= (p.Ile825=)
c.2049C= (p.Ile683=)
c.2073C= (p.Ile691=)
n.2204C=
c.2469C= (p.Ile823=)
n.2649C=
n.2629C=
c.2121C= (p.Ile707=)
n.2614C=
20g.3228924G>TCA509558244SLC4A11c.2106C>A (p.Ile702=)
c.2037C>A (p.Ile679=)
c.1977C>A (p.Ile659=)
c.1992C>A (p.Ile664=)
c.2154C>A (p.Ile718=)
c.2235C>A (p.Ile745=)
c.*254C>A (n.*254C>A)
c.2475C>A (p.Ile825=)
c.2049C>A (p.Ile683=)
c.2073C>A (p.Ile691=)
n.2204C>A
c.2469C>A (p.Ile823=)
n.2649C>A
n.2629C>A
c.2121C>A (p.Ile707=)
n.2614C>A
20g.3228925A>CCA408087010SLC4A11c.2105T>G (p.Ile702Ser)
c.2036T>G (p.Ile679Ser)
c.1976T>G (p.Ile659Ser)
c.1991T>G (p.Ile664Ser)
c.2153T>G (p.Ile718Ser)
c.2234T>G (p.Ile745Ser)
c.*253T>G (n.*253T>G)
c.2474T>G (p.Ile825Ser)
c.2048T>G (p.Ile683Ser)
c.2072T>G (p.Ile691Ser)
n.2203T>G
c.2468T>G (p.Ile823Ser)
n.2648T>G
n.2628T>G
c.2120T>G (p.Ile707Ser)
n.2613T>G
20g.3228925A>GCA408087012SLC4A11c.2105T>C (p.Ile702Thr)
c.2036T>C (p.Ile679Thr)
c.1976T>C (p.Ile659Thr)
c.1991T>C (p.Ile664Thr)
c.2153T>C (p.Ile718Thr)
c.2234T>C (p.Ile745Thr)
c.*253T>C (n.*253T>C)
c.2474T>C (p.Ile825Thr)
c.2048T>C (p.Ile683Thr)
c.2072T>C (p.Ile691Thr)
n.2203T>C
c.2468T>C (p.Ile823Thr)
n.2648T>C
n.2628T>C
c.2120T>C (p.Ile707Thr)
n.2613T>C
20g.3228925A>TCA408087011SLC4A11c.2105T>A (p.Ile702Asn)
c.2036T>A (p.Ile679Asn)
c.1976T>A (p.Ile659Asn)
c.1991T>A (p.Ile664Asn)
c.2153T>A (p.Ile718Asn)
c.2234T>A (p.Ile745Asn)
c.*253T>A (n.*253T>A)
c.2474T>A (p.Ile825Asn)
c.2048T>A (p.Ile683Asn)
c.2072T>A (p.Ile691Asn)
n.2203T>A
c.2468T>A (p.Ile823Asn)
n.2648T>A
n.2628T>A
c.2120T>A (p.Ile707Asn)
n.2613T>A
20g.3228926T>ACA408087013SLC4A11c.2104A>T (p.Ile702Phe)
c.2035A>T (p.Ile679Phe)
c.1975A>T (p.Ile659Phe)
c.1990A>T (p.Ile664Phe)
c.2152A>T (p.Ile718Phe)
c.2233A>T (p.Ile745Phe)
c.*252A>T (n.*252A>T)
c.2473A>T (p.Ile825Phe)
c.2047A>T (p.Ile683Phe)
c.2071A>T (p.Ile691Phe)
n.2202A>T
c.2467A>T (p.Ile823Phe)
n.2647A>T
n.2627A>T
c.2119A>T (p.Ile707Phe)
n.2612A>T
20g.3228926T>CCA408087014SLC4A11c.2104A>G (p.Ile702Val)
c.2035A>G (p.Ile679Val)
c.1975A>G (p.Ile659Val)
c.1990A>G (p.Ile664Val)
c.2152A>G (p.Ile718Val)
c.2233A>G (p.Ile745Val)
c.*252A>G (n.*252A>G)
c.2473A>G (p.Ile825Val)
c.2047A>G (p.Ile683Val)
c.2071A>G (p.Ile691Val)
n.2202A>G
c.2467A>G (p.Ile823Val)
n.2647A>G
n.2627A>G
c.2119A>G (p.Ile707Val)
n.2612A>G
20g.3228926T>GCA408087015SLC4A11c.2104A>C (p.Ile702Leu)
c.2035A>C (p.Ile679Leu)
c.1975A>C (p.Ile659Leu)
c.1990A>C (p.Ile664Leu)
c.2152A>C (p.Ile718Leu)
c.2233A>C (p.Ile745Leu)
c.*252A>C (n.*252A>C)
c.2473A>C (p.Ile825Leu)
c.2047A>C (p.Ile683Leu)
c.2071A>C (p.Ile691Leu)
n.2202A>C
c.2467A>C (p.Ile823Leu)
n.2647A>C
n.2627A>C
c.2119A>C (p.Ile707Leu)
n.2612A>C
20g.3228927C>ACA408087016SLC4A11c.2103G>T (p.Trp701Cys)
c.2034G>T (p.Trp678Cys)
c.1974G>T (p.Trp658Cys)
c.1989G>T (p.Trp663Cys)
c.2151G>T (p.Trp717Cys)
c.2232G>T (p.Trp744Cys)
c.*251G>T (n.*251G>T)
c.2472G>T (p.Trp824Cys)
c.2046G>T (p.Trp682Cys)
c.2070G>T (p.Trp690Cys)
n.2201G>T
c.2466G>T (p.Trp822Cys)
n.2646G>T
n.2626G>T
c.2118G>T (p.Trp706Cys)
n.2611G>T
20g.3228927C=CA2346475244SLC4A11c.2103G= (p.Trp701=)
c.2034G= (p.Trp678=)
c.1974G= (p.Trp658=)
c.1989G= (p.Trp663=)
c.2151G= (p.Trp717=)
c.2232G= (p.Trp744=)
c.*251G= (n.*251G=)
c.2472G= (p.Trp824=)
c.2046G= (p.Trp682=)
c.2070G= (p.Trp690=)
n.2201G=
c.2466G= (p.Trp822=)
n.2646G=
n.2626G=
c.2118G= (p.Trp706=)
n.2611G=
20g.3228927C>GCA408087017SLC4A11c.2103G>C (p.Trp701Cys)
c.2034G>C (p.Trp678Cys)
c.1974G>C (p.Trp658Cys)
c.1989G>C (p.Trp663Cys)
c.2151G>C (p.Trp717Cys)
c.2232G>C (p.Trp744Cys)
c.*251G>C (n.*251G>C)
c.2472G>C (p.Trp824Cys)
c.2046G>C (p.Trp682Cys)
c.2070G>C (p.Trp690Cys)
n.2201G>C
c.2466G>C (p.Trp822Cys)
n.2646G>C
n.2626G>C
c.2118G>C (p.Trp706Cys)
n.2611G>C
20g.3228927C>TCA408087018SLC4A11c.2103G>A (p.Trp701Ter)
c.2034G>A (p.Trp678Ter)
c.1974G>A (p.Trp658Ter)
c.1989G>A (p.Trp663Ter)
c.2151G>A (p.Trp717Ter)
c.2232G>A (p.Trp744Ter)
c.*251G>A (n.*251G>A)
c.2472G>A (p.Trp824Ter)
c.2046G>A (p.Trp682Ter)
c.2070G>A (p.Trp690Ter)
n.2201G>A
c.2466G>A (p.Trp822Ter)
n.2646G>A
n.2626G>A
c.2118G>A (p.Trp706Ter)
n.2611G>A
20g.3228928C>ACA408087019SLC4A11c.2102G>T (p.Trp701Leu)
c.2033G>T (p.Trp678Leu)
c.1973G>T (p.Trp658Leu)
c.1988G>T (p.Trp663Leu)
c.2150G>T (p.Trp717Leu)
c.2231G>T (p.Trp744Leu)
c.*250G>T (n.*250G>T)
n.695G>T
c.2471G>T (p.Trp824Leu)
c.2045G>T (p.Trp682Leu)
c.2069G>T (p.Trp690Leu)
n.2200G>T
c.2465G>T (p.Trp822Leu)
n.2645G>T
n.2625G>T
c.2117G>T (p.Trp706Leu)
n.2610G>T
20g.3228928C=CA2346475245SLC4A11c.2102G= (p.Trp701=)
c.2033G= (p.Trp678=)
c.1973G= (p.Trp658=)
c.1988G= (p.Trp663=)
c.2150G= (p.Trp717=)
c.2231G= (p.Trp744=)
c.*250G= (n.*250G=)
n.695G=
c.2471G= (p.Trp824=)
c.2045G= (p.Trp682=)
c.2069G= (p.Trp690=)
n.2200G=
c.2465G= (p.Trp822=)
n.2645G=
n.2625G=
c.2117G= (p.Trp706=)
n.2610G=
20g.3228928C>GCA408087020SLC4A11c.2102G>C (p.Trp701Ser)
c.2033G>C (p.Trp678Ser)
c.1973G>C (p.Trp658Ser)
c.1988G>C (p.Trp663Ser)
c.2150G>C (p.Trp717Ser)
c.2231G>C (p.Trp744Ser)
c.*250G>C (n.*250G>C)
n.695G>C
c.2471G>C (p.Trp824Ser)
c.2045G>C (p.Trp682Ser)
c.2069G>C (p.Trp690Ser)
n.2200G>C
c.2465G>C (p.Trp822Ser)
n.2645G>C
n.2625G>C
c.2117G>C (p.Trp706Ser)
n.2610G>C
20g.3228928C>TCA9741593SLC4A11c.2102G>A (p.Trp701Ter)
c.2033G>A (p.Trp678Ter)
c.1973G>A (p.Trp658Ter)
c.1988G>A (p.Trp663Ter)
c.2150G>A (p.Trp717Ter)
c.2231G>A (p.Trp744Ter)
c.*250G>A (n.*250G>A)
n.695G>A
c.2471G>A (p.Trp824Ter)
c.2045G>A (p.Trp682Ter)
c.2069G>A (p.Trp690Ter)
n.2200G>A
c.2465G>A (p.Trp822Ter)
n.2645G>A
n.2625G>A
c.2117G>A (p.Trp706Ter)
n.2610G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228929A>CCA408087021SLC4A11c.2101T>G (p.Trp701Gly)
c.2032T>G (p.Trp678Gly)
c.1972T>G (p.Trp658Gly)
c.1987T>G (p.Trp663Gly)
c.2149T>G (p.Trp717Gly)
c.2230T>G (p.Trp744Gly)
c.*249T>G (n.*249T>G)
n.694T>G
c.2470T>G (p.Trp824Gly)
c.2044T>G (p.Trp682Gly)
c.2068T>G (p.Trp690Gly)
n.2199T>G
c.2464T>G (p.Trp822Gly)
n.2644T>G
n.2624T>G
c.2116T>G (p.Trp706Gly)
n.2609T>G
20g.3228929A>GCA408087022SLC4A11c.2101T>C (p.Trp701Arg)
c.2032T>C (p.Trp678Arg)
c.1972T>C (p.Trp658Arg)
c.1987T>C (p.Trp663Arg)
c.2149T>C (p.Trp717Arg)
c.2230T>C (p.Trp744Arg)
c.*249T>C (n.*249T>C)
n.694T>C
c.2470T>C (p.Trp824Arg)
c.2044T>C (p.Trp682Arg)
c.2068T>C (p.Trp690Arg)
n.2199T>C
c.2464T>C (p.Trp822Arg)
n.2644T>C
n.2624T>C
c.2116T>C (p.Trp706Arg)
n.2609T>C
20g.3228929A>TCA408087023SLC4A11c.2101T>A (p.Trp701Arg)
c.2032T>A (p.Trp678Arg)
c.1972T>A (p.Trp658Arg)
c.1987T>A (p.Trp663Arg)
c.2149T>A (p.Trp717Arg)
c.2230T>A (p.Trp744Arg)
c.*249T>A (n.*249T>A)
n.694T>A
c.2470T>A (p.Trp824Arg)
c.2044T>A (p.Trp682Arg)
c.2068T>A (p.Trp690Arg)
n.2199T>A
c.2464T>A (p.Trp822Arg)
n.2644T>A
n.2624T>A
c.2116T>A (p.Trp706Arg)
n.2609T>A
20g.3228930A>CCA509558257SLC4A11c.2100T>G (p.Pro700=)
c.2031T>G (p.Pro677=)
c.1971T>G (p.Pro657=)
c.1986T>G (p.Pro662=)
c.2148T>G (p.Pro716=)
c.2229T>G (p.Pro743=)
c.*248T>G (n.*248T>G)
n.693T>G
c.2469T>G (p.Pro823=)
c.2043T>G (p.Pro681=)
c.2067T>G (p.Pro689=)
n.2198T>G
c.2463T>G (p.Pro821=)
n.2643T>G
n.2623T>G
c.2115T>G (p.Pro705=)
n.2608T>G
20g.3228930A>GCA509558258SLC4A11c.2100T>C (p.Pro700=)
c.2031T>C (p.Pro677=)
c.1971T>C (p.Pro657=)
c.1986T>C (p.Pro662=)
c.2148T>C (p.Pro716=)
c.2229T>C (p.Pro743=)
c.*248T>C (n.*248T>C)
n.693T>C
c.2469T>C (p.Pro823=)
c.2043T>C (p.Pro681=)
c.2067T>C (p.Pro689=)
n.2198T>C
c.2463T>C (p.Pro821=)
n.2643T>C
n.2623T>C
c.2115T>C (p.Pro705=)
n.2608T>C
20g.3228930A>TCA509558259SLC4A11c.2100T>A (p.Pro700=)
c.2031T>A (p.Pro677=)
c.1971T>A (p.Pro657=)
c.1986T>A (p.Pro662=)
c.2148T>A (p.Pro716=)
c.2229T>A (p.Pro743=)
c.*248T>A (n.*248T>A)
n.693T>A
c.2469T>A (p.Pro823=)
c.2043T>A (p.Pro681=)
c.2067T>A (p.Pro689=)
n.2198T>A
c.2463T>A (p.Pro821=)
n.2643T>A
n.2623T>A
c.2115T>A (p.Pro705=)
n.2608T>A
20g.3228931G>ACA408087026SLC4A11c.2099C>T (p.Pro700Leu)
c.2030C>T (p.Pro677Leu)
c.1970C>T (p.Pro657Leu)
c.1985C>T (p.Pro662Leu)
c.2147C>T (p.Pro716Leu)
c.2228C>T (p.Pro743Leu)
c.*247C>T (n.*247C>T)
n.692C>T
c.2468C>T (p.Pro823Leu)
c.2042C>T (p.Pro681Leu)
c.2066C>T (p.Pro689Leu)
n.2197C>T
c.2462C>T (p.Pro821Leu)
n.2642C>T
n.2622C>T
c.2114C>T (p.Pro705Leu)
n.2607C>T
 gnomAD v4
20g.3228931G>CCA408087024SLC4A11c.2099C>G (p.Pro700Arg)
c.2030C>G (p.Pro677Arg)
c.1970C>G (p.Pro657Arg)
c.1985C>G (p.Pro662Arg)
c.2147C>G (p.Pro716Arg)
c.2228C>G (p.Pro743Arg)
c.*247C>G (n.*247C>G)
n.692C>G
c.2468C>G (p.Pro823Arg)
c.2042C>G (p.Pro681Arg)
c.2066C>G (p.Pro689Arg)
n.2197C>G
c.2462C>G (p.Pro821Arg)
n.2642C>G
n.2622C>G
c.2114C>G (p.Pro705Arg)
n.2607C>G
20g.3228931G>TCA408087025SLC4A11c.2099C>A (p.Pro700His)
c.2030C>A (p.Pro677His)
c.1970C>A (p.Pro657His)
c.1985C>A (p.Pro662His)
c.2147C>A (p.Pro716His)
c.2228C>A (p.Pro743His)
c.*247C>A (n.*247C>A)
n.692C>A
c.2468C>A (p.Pro823His)
c.2042C>A (p.Pro681His)
c.2066C>A (p.Pro689His)
n.2197C>A
c.2462C>A (p.Pro821His)
n.2642C>A
n.2622C>A
c.2114C>A (p.Pro705His)
n.2607C>A
20g.3228932G>ACA408087027SLC4A11c.2098C>T (p.Pro700Ser)
c.2029C>T (p.Pro677Ser)
c.1969C>T (p.Pro657Ser)
c.1984C>T (p.Pro662Ser)
c.2146C>T (p.Pro716Ser)
c.2227C>T (p.Pro743Ser)
c.*246C>T (n.*246C>T)
n.691C>T
c.2467C>T (p.Pro823Ser)
c.2041C>T (p.Pro681Ser)
c.2065C>T (p.Pro689Ser)
n.2196C>T
c.2461C>T (p.Pro821Ser)
n.2641C>T
n.2621C>T
c.2113C>T (p.Pro705Ser)
n.2606C>T
 dbSNP gnomAD v2 gnomAD v4
20g.3228932G>CCA408087028SLC4A11c.2098C>G (p.Pro700Ala)
c.2029C>G (p.Pro677Ala)
c.1969C>G (p.Pro657Ala)
c.1984C>G (p.Pro662Ala)
c.2146C>G (p.Pro716Ala)
c.2227C>G (p.Pro743Ala)
c.*246C>G (n.*246C>G)
n.691C>G
c.2467C>G (p.Pro823Ala)
c.2041C>G (p.Pro681Ala)
c.2065C>G (p.Pro689Ala)
n.2196C>G
c.2461C>G (p.Pro821Ala)
n.2641C>G
n.2621C>G
c.2113C>G (p.Pro705Ala)
n.2606C>G
20g.3228932G=CA2346475246SLC4A11c.2098C= (p.Pro700=)
c.2029C= (p.Pro677=)
c.1969C= (p.Pro657=)
c.1984C= (p.Pro662=)
c.2146C= (p.Pro716=)
c.2227C= (p.Pro743=)
c.*246C= (n.*246C=)
n.691C=
c.2467C= (p.Pro823=)
c.2041C= (p.Pro681=)
c.2065C= (p.Pro689=)
n.2196C=
c.2461C= (p.Pro821=)
n.2641C=
n.2621C=
c.2113C= (p.Pro705=)
n.2606C=
20g.3228932G>TCA408087029SLC4A11c.2098C>A (p.Pro700Thr)
c.2029C>A (p.Pro677Thr)
c.1969C>A (p.Pro657Thr)
c.1984C>A (p.Pro662Thr)
c.2146C>A (p.Pro716Thr)
c.2227C>A (p.Pro743Thr)
c.*246C>A (n.*246C>A)
n.691C>A
c.2467C>A (p.Pro823Thr)
c.2041C>A (p.Pro681Thr)
c.2065C>A (p.Pro689Thr)
n.2196C>A
c.2461C>A (p.Pro821Thr)
n.2641C>A
n.2621C>A
c.2113C>A (p.Pro705Thr)
n.2606C>A
20g.3228933C>ACA509558260SLC4A11c.2097G>T (p.Leu699=)
c.2028G>T (p.Leu676=)
c.1968G>T (p.Leu656=)
c.1983G>T (p.Leu661=)
c.2145G>T (p.Leu715=)
c.2226G>T (p.Leu742=)
c.*245G>T (n.*245G>T)
n.690G>T
c.2466G>T (p.Leu822=)
c.2040G>T (p.Leu680=)
c.2064G>T (p.Leu688=)
n.2195G>T
c.2460G>T (p.Leu820=)
n.2640G>T
n.2620G>T
c.2112G>T (p.Leu704=)
n.2605G>T
20g.3228933C>GCA509558261SLC4A11c.2097G>C (p.Leu699=)
c.2028G>C (p.Leu676=)
c.1968G>C (p.Leu656=)
c.1983G>C (p.Leu661=)
c.2145G>C (p.Leu715=)
c.2226G>C (p.Leu742=)
c.*245G>C (n.*245G>C)
n.690G>C
c.2466G>C (p.Leu822=)
c.2040G>C (p.Leu680=)
c.2064G>C (p.Leu688=)
n.2195G>C
c.2460G>C (p.Leu820=)
n.2640G>C
n.2620G>C
c.2112G>C (p.Leu704=)
n.2605G>C
20g.3228933C>TCA509558262SLC4A11c.2097G>A (p.Leu699=)
c.2028G>A (p.Leu676=)
c.1968G>A (p.Leu656=)
c.1983G>A (p.Leu661=)
c.2145G>A (p.Leu715=)
c.2226G>A (p.Leu742=)
c.*245G>A (n.*245G>A)
n.690G>A
c.2466G>A (p.Leu822=)
c.2040G>A (p.Leu680=)
c.2064G>A (p.Leu688=)
n.2195G>A
c.2460G>A (p.Leu820=)
n.2640G>A
n.2620G>A
c.2112G>A (p.Leu704=)
n.2605G>A
 ClinVar
20g.3228934A=CA2346475247SLC4A11c.2096T= (p.Leu699=)
c.2027T= (p.Leu676=)
c.1967T= (p.Leu656=)
c.1982T= (p.Leu661=)
c.2144T= (p.Leu715=)
c.2225T= (p.Leu742=)
c.*244T= (n.*244T=)
n.689T=
c.2465T= (p.Leu822=)
c.2039T= (p.Leu680=)
c.2063T= (p.Leu688=)
n.2194T=
c.2459T= (p.Leu820=)
n.2639T=
n.2619T=
c.2111T= (p.Leu704=)
n.2604T=
20g.3228934A>CCA408087030SLC4A11c.2096T>G (p.Leu699Arg)
c.2027T>G (p.Leu676Arg)
c.1967T>G (p.Leu656Arg)
c.1982T>G (p.Leu661Arg)
c.2144T>G (p.Leu715Arg)
c.2225T>G (p.Leu742Arg)
c.*244T>G (n.*244T>G)
n.689T>G
c.2465T>G (p.Leu822Arg)
c.2039T>G (p.Leu680Arg)
c.2063T>G (p.Leu688Arg)
n.2194T>G
c.2459T>G (p.Leu820Arg)
n.2639T>G
n.2619T>G
c.2111T>G (p.Leu704Arg)
n.2604T>G
20g.3228934A>GCA408087031SLC4A11c.2096T>C (p.Leu699Pro)
c.2027T>C (p.Leu676Pro)
c.1967T>C (p.Leu656Pro)
c.1982T>C (p.Leu661Pro)
c.2144T>C (p.Leu715Pro)
c.2225T>C (p.Leu742Pro)
c.*244T>C (n.*244T>C)
n.689T>C
c.2465T>C (p.Leu822Pro)
c.2039T>C (p.Leu680Pro)
c.2063T>C (p.Leu688Pro)
n.2194T>C
c.2459T>C (p.Leu820Pro)
n.2639T>C
n.2619T>C
c.2111T>C (p.Leu704Pro)
n.2604T>C
 dbSNP
20g.3228934A>TCA408087032SLC4A11c.2096T>A (p.Leu699Gln)
c.2027T>A (p.Leu676Gln)
c.1967T>A (p.Leu656Gln)
c.1982T>A (p.Leu661Gln)
c.2144T>A (p.Leu715Gln)
c.2225T>A (p.Leu742Gln)
c.*244T>A (n.*244T>A)
n.689T>A
c.2465T>A (p.Leu822Gln)
c.2039T>A (p.Leu680Gln)
c.2063T>A (p.Leu688Gln)
n.2194T>A
c.2459T>A (p.Leu820Gln)
n.2639T>A
n.2619T>A
c.2111T>A (p.Leu704Gln)
n.2604T>A
20g.3228935G>ACA509558263SLC4A11c.2095C>T (p.Leu699=)
c.2026C>T (p.Leu676=)
c.1966C>T (p.Leu656=)
c.1981C>T (p.Leu661=)
c.2143C>T (p.Leu715=)
c.2224C>T (p.Leu742=)
c.*243C>T (n.*243C>T)
n.688C>T
c.2464C>T (p.Leu822=)
c.2038C>T (p.Leu680=)
c.2062C>T (p.Leu688=)
n.2193C>T
c.2458C>T (p.Leu820=)
n.2638C>T
n.2618C>T
c.2110C>T (p.Leu704=)
n.2603C>T
 ClinVar dbSNP gnomAD v4
20g.3228935G>CCA408087033SLC4A11c.2095C>G (p.Leu699Val)
c.2026C>G (p.Leu676Val)
c.1966C>G (p.Leu656Val)
c.1981C>G (p.Leu661Val)
c.2143C>G (p.Leu715Val)
c.2224C>G (p.Leu742Val)
c.*243C>G (n.*243C>G)
n.688C>G
c.2464C>G (p.Leu822Val)
c.2038C>G (p.Leu680Val)
c.2062C>G (p.Leu688Val)
n.2193C>G
c.2458C>G (p.Leu820Val)
n.2638C>G
n.2618C>G
c.2110C>G (p.Leu704Val)
n.2603C>G
 dbSNP
20g.3228935G>TCA408087034SLC4A11c.2095C>A (p.Leu699Met)
c.2026C>A (p.Leu676Met)
c.1966C>A (p.Leu656Met)
c.1981C>A (p.Leu661Met)
c.2143C>A (p.Leu715Met)
c.2224C>A (p.Leu742Met)
c.*243C>A (n.*243C>A)
n.688C>A
c.2464C>A (p.Leu822Met)
c.2038C>A (p.Leu680Met)
c.2062C>A (p.Leu688Met)
n.2193C>A
c.2458C>A (p.Leu820Met)
n.2638C>A
n.2618C>A
c.2110C>A (p.Leu704Met)
n.2603C>A
20g.3228936C>ACA509558264SLC4A11c.2094G>T (p.Gly698=)
c.2025G>T (p.Gly675=)
c.1965G>T (p.Gly655=)
c.1980G>T (p.Gly660=)
c.2142G>T (p.Gly714=)
c.2223G>T (p.Gly741=)
c.*242G>T (n.*242G>T)
n.687G>T
c.2463G>T (p.Gly821=)
c.2037G>T (p.Gly679=)
c.2061G>T (p.Gly687=)
n.2192G>T
c.2457G>T (p.Gly819=)
n.2637G>T
n.2617G>T
c.2109G>T (p.Gly703=)
n.2602G>T
20g.3228936C>GCA509558267SLC4A11c.2094G>C (p.Gly698=)
c.2025G>C (p.Gly675=)
c.1965G>C (p.Gly655=)
c.1980G>C (p.Gly660=)
c.2142G>C (p.Gly714=)
c.2223G>C (p.Gly741=)
c.*242G>C (n.*242G>C)
n.687G>C
c.2463G>C (p.Gly821=)
c.2037G>C (p.Gly679=)
c.2061G>C (p.Gly687=)
n.2192G>C
c.2457G>C (p.Gly819=)
n.2637G>C
n.2617G>C
c.2109G>C (p.Gly703=)
n.2602G>C
20g.3228936C>TCA509558266SLC4A11c.2094G>A (p.Gly698=)
c.2025G>A (p.Gly675=)
c.1965G>A (p.Gly655=)
c.1980G>A (p.Gly660=)
c.2142G>A (p.Gly714=)
c.2223G>A (p.Gly741=)
c.*242G>A (n.*242G>A)
n.687G>A
c.2463G>A (p.Gly821=)
c.2037G>A (p.Gly679=)
c.2061G>A (p.Gly687=)
n.2192G>A
c.2457G>A (p.Gly819=)
n.2637G>A
n.2617G>A
c.2109G>A (p.Gly703=)
n.2602G>A
 gnomAD v4
20g.3228937C>ACA408087035SLC4A11c.2093G>T (p.Gly698Val)
c.2024G>T (p.Gly675Val)
c.1964G>T (p.Gly655Val)
c.1979G>T (p.Gly660Val)
c.2141G>T (p.Gly714Val)
c.2222G>T (p.Gly741Val)
c.*241G>T (n.*241G>T)
n.686G>T
c.2462G>T (p.Gly821Val)
c.2036G>T (p.Gly679Val)
c.2060G>T (p.Gly687Val)
n.2191G>T
c.2456G>T (p.Gly819Val)
n.2636G>T
n.2616G>T
c.2108G>T (p.Gly703Val)
n.2601G>T
 dbSNP gnomAD v4
20g.3228937C=CA2346475249SLC4A11c.2093G= (p.Gly698=)
c.2024G= (p.Gly675=)
c.1964G= (p.Gly655=)
c.1979G= (p.Gly660=)
c.2141G= (p.Gly714=)
c.2222G= (p.Gly741=)
c.*241G= (n.*241G=)
n.686G=
c.2462G= (p.Gly821=)
c.2036G= (p.Gly679=)
c.2060G= (p.Gly687=)
n.2191G=
c.2456G= (p.Gly819=)
n.2636G=
n.2616G=
c.2108G= (p.Gly703=)
n.2601G=
20g.3228937C>GCA408087036SLC4A11c.2093G>C (p.Gly698Ala)
c.2024G>C (p.Gly675Ala)
c.1964G>C (p.Gly655Ala)
c.1979G>C (p.Gly660Ala)
c.2141G>C (p.Gly714Ala)
c.2222G>C (p.Gly741Ala)
c.*241G>C (n.*241G>C)
n.686G>C
c.2462G>C (p.Gly821Ala)
c.2036G>C (p.Gly679Ala)
c.2060G>C (p.Gly687Ala)
n.2191G>C
c.2456G>C (p.Gly819Ala)
n.2636G>C
n.2616G>C
c.2108G>C (p.Gly703Ala)
n.2601G>C
20g.3228937C>TCA408087037SLC4A11c.2093G>A (p.Gly698Glu)
c.2024G>A (p.Gly675Glu)
c.1964G>A (p.Gly655Glu)
c.1979G>A (p.Gly660Glu)
c.2141G>A (p.Gly714Glu)
c.2222G>A (p.Gly741Glu)
c.*241G>A (n.*241G>A)
n.686G>A
c.2462G>A (p.Gly821Glu)
c.2036G>A (p.Gly679Glu)
c.2060G>A (p.Gly687Glu)
n.2191G>A
c.2456G>A (p.Gly819Glu)
n.2636G>A
n.2616G>A
c.2108G>A (p.Gly703Glu)
n.2601G>A
20g.3228937_3228941delinsCCAAACA2346475248SLC4A11c.2089_2093delinsTTTGG (p.Phe697=)
c.2020_2024delinsTTTGG (p.Phe674=)
c.1960_1964delinsTTTGG (p.Phe654=)
c.1975_1979delinsTTTGG (p.Phe659=)
c.2137_2141delinsTTTGG (p.Phe713=)
c.2218_2222delinsTTTGG (p.Phe740=)
c.*237_*241delinsTTTGG (n.*237_*241delinsTTTGG)
n.682_686delinsTTTGG
c.2458_2462delinsTTTGG (p.Phe820=)
c.2032_2036delinsTTTGG (p.Phe678=)
c.2056_2060delinsTTTGG (p.Phe686=)
n.2187_2191delinsTTTGG
c.2452_2456delinsTTTGG (p.Phe818=)
n.2632_2636delinsTTTGG
n.2612_2616delinsTTTGG
c.2104_2108delinsTTTGG (p.Phe702=)
n.2597_2601delinsTTTGG
20g.3228938C>ACA408087040SLC4A11c.2092G>T (p.Gly698Trp)
c.2023G>T (p.Gly675Trp)
c.1963G>T (p.Gly655Trp)
c.1978G>T (p.Gly660Trp)
c.2140G>T (p.Gly714Trp)
c.2221G>T (p.Gly741Trp)
c.*240G>T (n.*240G>T)
n.685G>T
c.2461G>T (p.Gly821Trp)
c.2035G>T (p.Gly679Trp)
c.2059G>T (p.Gly687Trp)
n.2190G>T
c.2455G>T (p.Gly819Trp)
n.2635G>T
n.2615G>T
c.2107G>T (p.Gly703Trp)
n.2600G>T
 gnomAD v4
20g.3228938C>GCA408087039SLC4A11c.2092G>C (p.Gly698Arg)
c.2023G>C (p.Gly675Arg)
c.1963G>C (p.Gly655Arg)
c.1978G>C (p.Gly660Arg)
c.2140G>C (p.Gly714Arg)
c.2221G>C (p.Gly741Arg)
c.*240G>C (n.*240G>C)
n.685G>C
c.2461G>C (p.Gly821Arg)
c.2035G>C (p.Gly679Arg)
c.2059G>C (p.Gly687Arg)
n.2190G>C
c.2455G>C (p.Gly819Arg)
n.2635G>C
n.2615G>C
c.2107G>C (p.Gly703Arg)
n.2600G>C
20g.3228938C>TCA408087038SLC4A11c.2092G>A (p.Gly698Arg)
c.2023G>A (p.Gly675Arg)
c.1963G>A (p.Gly655Arg)
c.1978G>A (p.Gly660Arg)
c.2140G>A (p.Gly714Arg)
c.2221G>A (p.Gly741Arg)
c.*240G>A (n.*240G>A)
n.685G>A
c.2461G>A (p.Gly821Arg)
c.2035G>A (p.Gly679Arg)
c.2059G>A (p.Gly687Arg)
n.2190G>A
c.2455G>A (p.Gly819Arg)
n.2635G>A
n.2615G>A
c.2107G>A (p.Gly703Arg)
n.2600G>A
20g.3228940_3228943delCA743604099SLC4A11c.2089_2092del (p.Phe697GlyfsTer21)
c.2020_2023del (p.Phe674GlyfsTer21)
c.1960_1963del (p.Phe654GlyfsTer21)
c.1975_1978del (p.Phe659GlyfsTer21)
c.2137_2140del (p.Phe713GlyfsTer21)
c.2218_2221del (p.Phe740GlyfsTer21)
c.*237_*240del (n.*237_*240del)
n.682_685del
c.2458_2461del (p.Phe820GlyfsTer21)
c.2032_2035del (p.Phe678GlyfsTer21)
c.2056_2059del (p.Phe686GlyfsTer21)
n.2187_2190del
c.2452_2455del (p.Phe818GlyfsTer21)
n.2632_2635del
n.2612_2615del
c.2104_2107del (p.Phe702GlyfsTer21)
n.2597_2600del
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.3228939A>CCA408087041SLC4A11c.2091T>G (p.Phe697Leu)
c.2022T>G (p.Phe674Leu)
c.1962T>G (p.Phe654Leu)
c.1977T>G (p.Phe659Leu)
c.2139T>G (p.Phe713Leu)
c.2220T>G (p.Phe740Leu)
c.*239T>G (n.*239T>G)
n.684T>G
c.2460T>G (p.Phe820Leu)
c.2034T>G (p.Phe678Leu)
c.2058T>G (p.Phe686Leu)
n.2189T>G
c.2454T>G (p.Phe818Leu)
n.2634T>G
n.2614T>G
c.2106T>G (p.Phe702Leu)
n.2599T>G
20g.3228939A>GCA509558272SLC4A11c.2091T>C (p.Phe697=)
c.2022T>C (p.Phe674=)
c.1962T>C (p.Phe654=)
c.1977T>C (p.Phe659=)
c.2139T>C (p.Phe713=)
c.2220T>C (p.Phe740=)
c.*239T>C (n.*239T>C)
n.684T>C
c.2460T>C (p.Phe820=)
c.2034T>C (p.Phe678=)
c.2058T>C (p.Phe686=)
n.2189T>C
c.2454T>C (p.Phe818=)
n.2634T>C
n.2614T>C
c.2106T>C (p.Phe702=)
n.2599T>C
20g.3228939A>TCA408087042SLC4A11c.2091T>A (p.Phe697Leu)
c.2022T>A (p.Phe674Leu)
c.1962T>A (p.Phe654Leu)
c.1977T>A (p.Phe659Leu)
c.2139T>A (p.Phe713Leu)
c.2220T>A (p.Phe740Leu)
c.*239T>A (n.*239T>A)
n.684T>A
c.2460T>A (p.Phe820Leu)
c.2034T>A (p.Phe678Leu)
c.2058T>A (p.Phe686Leu)
n.2189T>A
c.2454T>A (p.Phe818Leu)
n.2634T>A
n.2614T>A
c.2106T>A (p.Phe702Leu)
n.2599T>A
20g.3228940A>CCA408087043SLC4A11c.2090T>G (p.Phe697Cys)
c.2021T>G (p.Phe674Cys)
c.1961T>G (p.Phe654Cys)
c.1976T>G (p.Phe659Cys)
c.2138T>G (p.Phe713Cys)
c.2219T>G (p.Phe740Cys)
c.*238T>G (n.*238T>G)
n.683T>G
c.2459T>G (p.Phe820Cys)
c.2033T>G (p.Phe678Cys)
c.2057T>G (p.Phe686Cys)
n.2188T>G
c.2453T>G (p.Phe818Cys)
n.2633T>G
n.2613T>G
c.2105T>G (p.Phe702Cys)
n.2598T>G
20g.3228940A>GCA408087044SLC4A11c.2090T>C (p.Phe697Ser)
c.2021T>C (p.Phe674Ser)
c.1961T>C (p.Phe654Ser)
c.1976T>C (p.Phe659Ser)
c.2138T>C (p.Phe713Ser)
c.2219T>C (p.Phe740Ser)
c.*238T>C (n.*238T>C)
n.683T>C
c.2459T>C (p.Phe820Ser)
c.2033T>C (p.Phe678Ser)
c.2057T>C (p.Phe686Ser)
n.2188T>C
c.2453T>C (p.Phe818Ser)
n.2633T>C
n.2613T>C
c.2105T>C (p.Phe702Ser)
n.2598T>C
20g.3228940A>TCA408087045SLC4A11c.2090T>A (p.Phe697Tyr)
c.2021T>A (p.Phe674Tyr)
c.1961T>A (p.Phe654Tyr)
c.1976T>A (p.Phe659Tyr)
c.2138T>A (p.Phe713Tyr)
c.2219T>A (p.Phe740Tyr)
c.*238T>A (n.*238T>A)
n.683T>A
c.2459T>A (p.Phe820Tyr)
c.2033T>A (p.Phe678Tyr)
c.2057T>A (p.Phe686Tyr)
n.2188T>A
c.2453T>A (p.Phe818Tyr)
n.2633T>A
n.2613T>A
c.2105T>A (p.Phe702Tyr)
n.2598T>A
20g.3228941A>CCA408087046SLC4A11c.2089T>G (p.Phe697Val)
c.2020T>G (p.Phe674Val)
c.1960T>G (p.Phe654Val)
c.1975T>G (p.Phe659Val)
c.2137T>G (p.Phe713Val)
c.2218T>G (p.Phe740Val)
c.*237T>G (n.*237T>G)
n.682T>G
c.2458T>G (p.Phe820Val)
c.2032T>G (p.Phe678Val)
c.2056T>G (p.Phe686Val)
n.2187T>G
c.2452T>G (p.Phe818Val)
n.2632T>G
n.2612T>G
c.2104T>G (p.Phe702Val)
n.2597T>G
20g.3228941A>GCA408087047SLC4A11c.2089T>C (p.Phe697Leu)
c.2020T>C (p.Phe674Leu)
c.1960T>C (p.Phe654Leu)
c.1975T>C (p.Phe659Leu)
c.2137T>C (p.Phe713Leu)
c.2218T>C (p.Phe740Leu)
c.*237T>C (n.*237T>C)
n.682T>C
c.2458T>C (p.Phe820Leu)
c.2032T>C (p.Phe678Leu)
c.2056T>C (p.Phe686Leu)
n.2187T>C
c.2452T>C (p.Phe818Leu)
n.2632T>C
n.2612T>C
c.2104T>C (p.Phe702Leu)
n.2597T>C
20g.3228941A>TCA408087048SLC4A11c.2089T>A (p.Phe697Ile)
c.2020T>A (p.Phe674Ile)
c.1960T>A (p.Phe654Ile)
c.1975T>A (p.Phe659Ile)
c.2137T>A (p.Phe713Ile)
c.2218T>A (p.Phe740Ile)
c.*237T>A (n.*237T>A)
n.682T>A
c.2458T>A (p.Phe820Ile)
c.2032T>A (p.Phe678Ile)
c.2056T>A (p.Phe686Ile)
n.2187T>A
c.2452T>A (p.Phe818Ile)
n.2632T>A
n.2612T>A
c.2104T>A (p.Phe702Ile)
n.2597T>A
20g.3228942C>ACA509558274SLC4A11c.2088G>T (p.Leu696=)
c.2019G>T (p.Leu673=)
c.1959G>T (p.Leu653=)
c.1974G>T (p.Leu658=)
c.2136G>T (p.Leu712=)
c.2217G>T (p.Leu739=)
c.*236G>T (n.*236G>T)
n.681G>T
c.2457G>T (p.Leu819=)
c.2031G>T (p.Leu677=)
c.2055G>T (p.Leu685=)
n.2186G>T
c.2451G>T (p.Leu817=)
n.2631G>T
n.2611G>T
c.2103G>T (p.Leu701=)
n.2596G>T
20g.3228942C>GCA509558278SLC4A11c.2088G>C (p.Leu696=)
c.2019G>C (p.Leu673=)
c.1959G>C (p.Leu653=)
c.1974G>C (p.Leu658=)
c.2136G>C (p.Leu712=)
c.2217G>C (p.Leu739=)
c.*236G>C (n.*236G>C)
n.681G>C
c.2457G>C (p.Leu819=)
c.2031G>C (p.Leu677=)
c.2055G>C (p.Leu685=)
n.2186G>C
c.2451G>C (p.Leu817=)
n.2631G>C
n.2611G>C
c.2103G>C (p.Leu701=)
n.2596G>C
20g.3228942C>TCA509558279SLC4A11c.2088G>A (p.Leu696=)
c.2019G>A (p.Leu673=)
c.1959G>A (p.Leu653=)
c.1974G>A (p.Leu658=)
c.2136G>A (p.Leu712=)
c.2217G>A (p.Leu739=)
c.*236G>A (n.*236G>A)
n.681G>A
c.2457G>A (p.Leu819=)
c.2031G>A (p.Leu677=)
c.2055G>A (p.Leu685=)
n.2186G>A
c.2451G>A (p.Leu817=)
n.2631G>A
n.2611G>A
c.2103G>A (p.Leu701=)
n.2596G>A
20g.3228943A>CCA408087049SLC4A11c.2087T>G (p.Leu696Arg)
c.2018T>G (p.Leu673Arg)
c.1958T>G (p.Leu653Arg)
c.1973T>G (p.Leu658Arg)
c.2135T>G (p.Leu712Arg)
c.2216T>G (p.Leu739Arg)
c.*235T>G (n.*235T>G)
n.680T>G
c.2456T>G (p.Leu819Arg)
c.2030T>G (p.Leu677Arg)
c.2054T>G (p.Leu685Arg)
n.2185T>G
c.2450T>G (p.Leu817Arg)
n.2630T>G
n.2610T>G
c.2102T>G (p.Leu701Arg)
n.2595T>G
20g.3228943A>GCA408087050SLC4A11c.2087T>C (p.Leu696Pro)
c.2018T>C (p.Leu673Pro)
c.1958T>C (p.Leu653Pro)
c.1973T>C (p.Leu658Pro)
c.2135T>C (p.Leu712Pro)
c.2216T>C (p.Leu739Pro)
c.*235T>C (n.*235T>C)
n.680T>C
c.2456T>C (p.Leu819Pro)
c.2030T>C (p.Leu677Pro)
c.2054T>C (p.Leu685Pro)
n.2185T>C
c.2450T>C (p.Leu817Pro)
n.2630T>C
n.2610T>C
c.2102T>C (p.Leu701Pro)
n.2595T>C
20g.3228943A>TCA408087051SLC4A11c.2087T>A (p.Leu696Gln)
c.2018T>A (p.Leu673Gln)
c.1958T>A (p.Leu653Gln)
c.1973T>A (p.Leu658Gln)
c.2135T>A (p.Leu712Gln)
c.2216T>A (p.Leu739Gln)
c.*235T>A (n.*235T>A)
n.680T>A
c.2456T>A (p.Leu819Gln)
c.2030T>A (p.Leu677Gln)
c.2054T>A (p.Leu685Gln)
n.2185T>A
c.2450T>A (p.Leu817Gln)
n.2630T>A
n.2610T>A
c.2102T>A (p.Leu701Gln)
n.2595T>A
20g.3228944G>ACA509558283SLC4A11c.2086C>T (p.Leu696=)
c.2017C>T (p.Leu673=)
c.1957C>T (p.Leu653=)
c.1972C>T (p.Leu658=)
c.2134C>T (p.Leu712=)
c.2215C>T (p.Leu739=)
c.*234C>T (n.*234C>T)
n.679C>T
c.2455C>T (p.Leu819=)
c.2029C>T (p.Leu677=)
c.2053C>T (p.Leu685=)
n.2184C>T
c.2449C>T (p.Leu817=)
n.2629C>T
n.2609C>T
c.2101C>T (p.Leu701=)
n.2594C>T
20g.3228944G>CCA408087052SLC4A11c.2086C>G (p.Leu696Val)
c.2017C>G (p.Leu673Val)
c.1957C>G (p.Leu653Val)
c.1972C>G (p.Leu658Val)
c.2134C>G (p.Leu712Val)
c.2215C>G (p.Leu739Val)
c.*234C>G (n.*234C>G)
n.679C>G
c.2455C>G (p.Leu819Val)
c.2029C>G (p.Leu677Val)
c.2053C>G (p.Leu685Val)
n.2184C>G
c.2449C>G (p.Leu817Val)
n.2629C>G
n.2609C>G
c.2101C>G (p.Leu701Val)
n.2594C>G
20g.3228944G>TCA408087053SLC4A11c.2086C>A (p.Leu696Met)
c.2017C>A (p.Leu673Met)
c.1957C>A (p.Leu653Met)
c.1972C>A (p.Leu658Met)
c.2134C>A (p.Leu712Met)
c.2215C>A (p.Leu739Met)
c.*234C>A (n.*234C>A)
n.679C>A
c.2455C>A (p.Leu819Met)
c.2029C>A (p.Leu677Met)
c.2053C>A (p.Leu685Met)
n.2184C>A
c.2449C>A (p.Leu817Met)
n.2629C>A
n.2609C>A
c.2101C>A (p.Leu701Met)
n.2594C>A
20g.3228945A>CCA509558287SLC4A11c.2085T>G (p.Ser695=)
c.2016T>G (p.Ser672=)
c.1956T>G (p.Ser652=)
c.1971T>G (p.Ser657=)
c.2133T>G (p.Ser711=)
c.2214T>G (p.Ser738=)
c.*233T>G (n.*233T>G)
n.678T>G
c.2454T>G (p.Ser818=)
c.2028T>G (p.Ser676=)
c.2052T>G (p.Ser684=)
n.2183T>G
c.2448T>G (p.Ser816=)
n.2628T>G
n.2608T>G
c.2100T>G (p.Ser700=)
n.2593T>G
20g.3228945A>GCA509558286SLC4A11c.2085T>C (p.Ser695=)
c.2016T>C (p.Ser672=)
c.1956T>C (p.Ser652=)
c.1971T>C (p.Ser657=)
c.2133T>C (p.Ser711=)
c.2214T>C (p.Ser738=)
c.*233T>C (n.*233T>C)
n.678T>C
c.2454T>C (p.Ser818=)
c.2028T>C (p.Ser676=)
c.2052T>C (p.Ser684=)
n.2183T>C
c.2448T>C (p.Ser816=)
n.2628T>C
n.2608T>C
c.2100T>C (p.Ser700=)
n.2593T>C
 dbSNP
20g.3228945A>TCA509558285SLC4A11c.2085T>A (p.Ser695=)
c.2016T>A (p.Ser672=)
c.1956T>A (p.Ser652=)
c.1971T>A (p.Ser657=)
c.2133T>A (p.Ser711=)
c.2214T>A (p.Ser738=)
c.*233T>A (n.*233T>A)
n.678T>A
c.2454T>A (p.Ser818=)
c.2028T>A (p.Ser676=)
c.2052T>A (p.Ser684=)
n.2183T>A
c.2448T>A (p.Ser816=)
n.2628T>A
n.2608T>A
c.2100T>A (p.Ser700=)
n.2593T>A
20g.3228946G>ACA408087056SLC4A11c.2084C>T (p.Ser695Phe)
c.2015C>T (p.Ser672Phe)
c.1955C>T (p.Ser652Phe)
c.1970C>T (p.Ser657Phe)
c.2132C>T (p.Ser711Phe)
c.2213C>T (p.Ser738Phe)
c.*232C>T (n.*232C>T)
n.677C>T
c.2453C>T (p.Ser818Phe)
c.2027C>T (p.Ser676Phe)
c.2051C>T (p.Ser684Phe)
n.2182C>T
c.2447C>T (p.Ser816Phe)
n.2627C>T
n.2607C>T
c.2099C>T (p.Ser700Phe)
n.2592C>T
 dbSNP
20g.3228946G>CCA408087054SLC4A11c.2084C>G (p.Ser695Cys)
c.2015C>G (p.Ser672Cys)
c.1955C>G (p.Ser652Cys)
c.1970C>G (p.Ser657Cys)
c.2132C>G (p.Ser711Cys)
c.2213C>G (p.Ser738Cys)
c.*232C>G (n.*232C>G)
n.677C>G
c.2453C>G (p.Ser818Cys)
c.2027C>G (p.Ser676Cys)
c.2051C>G (p.Ser684Cys)
n.2182C>G
c.2447C>G (p.Ser816Cys)
n.2627C>G
n.2607C>G
c.2099C>G (p.Ser700Cys)
n.2592C>G
20g.3228946G=CA2346475250SLC4A11c.2084C= (p.Ser695=)
c.2015C= (p.Ser672=)
c.1955C= (p.Ser652=)
c.1970C= (p.Ser657=)
c.2132C= (p.Ser711=)
c.2213C= (p.Ser738=)
c.*232C= (n.*232C=)
n.677C=
c.2453C= (p.Ser818=)
c.2027C= (p.Ser676=)
c.2051C= (p.Ser684=)
n.2182C=
c.2447C= (p.Ser816=)
n.2627C=
n.2607C=
c.2099C= (p.Ser700=)
n.2592C=
20g.3228946G>TCA408087055SLC4A11c.2084C>A (p.Ser695Tyr)
c.2015C>A (p.Ser672Tyr)
c.1955C>A (p.Ser652Tyr)
c.1970C>A (p.Ser657Tyr)
c.2132C>A (p.Ser711Tyr)
c.2213C>A (p.Ser738Tyr)
c.*232C>A (n.*232C>A)
n.677C>A
c.2453C>A (p.Ser818Tyr)
c.2027C>A (p.Ser676Tyr)
c.2051C>A (p.Ser684Tyr)
n.2182C>A
c.2447C>A (p.Ser816Tyr)
n.2627C>A
n.2607C>A
c.2099C>A (p.Ser700Tyr)
n.2592C>A
20g.3228947A>CCA408087057SLC4A11c.2083T>G (p.Ser695Ala)
c.2014T>G (p.Ser672Ala)
c.1954T>G (p.Ser652Ala)
c.1969T>G (p.Ser657Ala)
c.2131T>G (p.Ser711Ala)
c.2212T>G (p.Ser738Ala)
c.*231T>G (n.*231T>G)
n.676T>G
c.2452T>G (p.Ser818Ala)
c.2026T>G (p.Ser676Ala)
c.2050T>G (p.Ser684Ala)
n.2181T>G
c.2446T>G (p.Ser816Ala)
n.2626T>G
n.2606T>G
c.2098T>G (p.Ser700Ala)
n.2591T>G
20g.3228947A>GCA408087058SLC4A11c.2083T>C (p.Ser695Pro)
c.2014T>C (p.Ser672Pro)
c.1954T>C (p.Ser652Pro)
c.1969T>C (p.Ser657Pro)
c.2131T>C (p.Ser711Pro)
c.2212T>C (p.Ser738Pro)
c.*231T>C (n.*231T>C)
n.676T>C
c.2452T>C (p.Ser818Pro)
c.2026T>C (p.Ser676Pro)
c.2050T>C (p.Ser684Pro)
n.2181T>C
c.2446T>C (p.Ser816Pro)
n.2626T>C
n.2606T>C
c.2098T>C (p.Ser700Pro)
n.2591T>C
20g.3228947A>TCA408087059SLC4A11c.2083T>A (p.Ser695Thr)
c.2014T>A (p.Ser672Thr)
c.1954T>A (p.Ser652Thr)
c.1969T>A (p.Ser657Thr)
c.2131T>A (p.Ser711Thr)
c.2212T>A (p.Ser738Thr)
c.*231T>A (n.*231T>A)
n.676T>A
c.2452T>A (p.Ser818Thr)
c.2026T>A (p.Ser676Thr)
c.2050T>A (p.Ser684Thr)
n.2181T>A
c.2446T>A (p.Ser816Thr)
n.2626T>A
n.2606T>A
c.2098T>A (p.Ser700Thr)
n.2591T>A
 gnomAD v4
20g.3228948C>ACA509558291SLC4A11c.2082G>T (p.Leu694=)
c.2013G>T (p.Leu671=)
c.1953G>T (p.Leu651=)
c.1968G>T (p.Leu656=)
c.2130G>T (p.Leu710=)
c.2211G>T (p.Leu737=)
c.*230G>T (n.*230G>T)
n.675G>T
c.2451G>T (p.Leu817=)
c.2025G>T (p.Leu675=)
c.2049G>T (p.Leu683=)
n.2180G>T
c.2445G>T (p.Leu815=)
n.2625G>T
n.2605G>T
c.2097G>T (p.Leu699=)
n.2590G>T
20g.3228948C>GCA509558292SLC4A11c.2082G>C (p.Leu694=)
c.2013G>C (p.Leu671=)
c.1953G>C (p.Leu651=)
c.1968G>C (p.Leu656=)
c.2130G>C (p.Leu710=)
c.2211G>C (p.Leu737=)
c.*230G>C (n.*230G>C)
n.675G>C
c.2451G>C (p.Leu817=)
c.2025G>C (p.Leu675=)
c.2049G>C (p.Leu683=)
n.2180G>C
c.2445G>C (p.Leu815=)
n.2625G>C
n.2605G>C
c.2097G>C (p.Leu699=)
n.2590G>C
20g.3228948C>TCA509558293SLC4A11c.2082G>A (p.Leu694=)
c.2013G>A (p.Leu671=)
c.1953G>A (p.Leu651=)
c.1968G>A (p.Leu656=)
c.2130G>A (p.Leu710=)
c.2211G>A (p.Leu737=)
c.*230G>A (n.*230G>A)
n.675G>A
c.2451G>A (p.Leu817=)
c.2025G>A (p.Leu675=)
c.2049G>A (p.Leu683=)
n.2180G>A
c.2445G>A (p.Leu815=)
n.2625G>A
n.2605G>A
c.2097G>A (p.Leu699=)
n.2590G>A
20g.3228949A>CCA408087060SLC4A11c.2081T>G (p.Leu694Arg)
c.2012T>G (p.Leu671Arg)
c.1952T>G (p.Leu651Arg)
c.1967T>G (p.Leu656Arg)
c.2129T>G (p.Leu710Arg)
c.2210T>G (p.Leu737Arg)
c.*229T>G (n.*229T>G)
n.674T>G
c.2450T>G (p.Leu817Arg)
c.2024T>G (p.Leu675Arg)
c.2048T>G (p.Leu683Arg)
n.2179T>G
c.2444T>G (p.Leu815Arg)
n.2624T>G
n.2604T>G
c.2096T>G (p.Leu699Arg)
n.2589T>G
20g.3228949A>GCA408087061SLC4A11c.2081T>C (p.Leu694Pro)
c.2012T>C (p.Leu671Pro)
c.1952T>C (p.Leu651Pro)
c.1967T>C (p.Leu656Pro)
c.2129T>C (p.Leu710Pro)
c.2210T>C (p.Leu737Pro)
c.*229T>C (n.*229T>C)
n.674T>C
c.2450T>C (p.Leu817Pro)
c.2024T>C (p.Leu675Pro)
c.2048T>C (p.Leu683Pro)
n.2179T>C
c.2444T>C (p.Leu815Pro)
n.2624T>C
n.2604T>C
c.2096T>C (p.Leu699Pro)
n.2589T>C
20g.3228949A>TCA408087062SLC4A11c.2081T>A (p.Leu694Gln)
c.2012T>A (p.Leu671Gln)
c.1952T>A (p.Leu651Gln)
c.1967T>A (p.Leu656Gln)
c.2129T>A (p.Leu710Gln)
c.2210T>A (p.Leu737Gln)
c.*229T>A (n.*229T>A)
n.674T>A
c.2450T>A (p.Leu817Gln)
c.2024T>A (p.Leu675Gln)
c.2048T>A (p.Leu683Gln)
n.2179T>A
c.2444T>A (p.Leu815Gln)
n.2624T>A
n.2604T>A
c.2096T>A (p.Leu699Gln)
n.2589T>A
20g.3228950G>ACA509558294SLC4A11c.2080C>T (p.Leu694=)
c.2011C>T (p.Leu671=)
c.1951C>T (p.Leu651=)
c.1966C>T (p.Leu656=)
c.2128C>T (p.Leu710=)
c.2209C>T (p.Leu737=)
c.*228C>T (n.*228C>T)
n.673C>T
c.2449C>T (p.Leu817=)
c.2023C>T (p.Leu675=)
c.2047C>T (p.Leu683=)
n.2178C>T
c.2443C>T (p.Leu815=)
n.2623C>T
n.2603C>T
c.2095C>T (p.Leu699=)
n.2588C>T
20g.3228950G>CCA408087063SLC4A11c.2080C>G (p.Leu694Val)
c.2011C>G (p.Leu671Val)
c.1951C>G (p.Leu651Val)
c.1966C>G (p.Leu656Val)
c.2128C>G (p.Leu710Val)
c.2209C>G (p.Leu737Val)
c.*228C>G (n.*228C>G)
n.673C>G
c.2449C>G (p.Leu817Val)
c.2023C>G (p.Leu675Val)
c.2047C>G (p.Leu683Val)
n.2178C>G
c.2443C>G (p.Leu815Val)
n.2623C>G
n.2603C>G
c.2095C>G (p.Leu699Val)
n.2588C>G
20g.3228950G>TCA408087064SLC4A11c.2080C>A (p.Leu694Met)
c.2011C>A (p.Leu671Met)
c.1951C>A (p.Leu651Met)
c.1966C>A (p.Leu656Met)
c.2128C>A (p.Leu710Met)
c.2209C>A (p.Leu737Met)
c.*228C>A (n.*228C>A)
n.673C>A
c.2449C>A (p.Leu817Met)
c.2023C>A (p.Leu675Met)
c.2047C>A (p.Leu683Met)
n.2178C>A
c.2443C>A (p.Leu815Met)
n.2623C>A
n.2603C>A
c.2095C>A (p.Leu699Met)
n.2588C>A
20g.3228951C>ACA509558295SLC4A11c.2079G>T (p.Gly693=)
c.2010G>T (p.Gly670=)
c.1950G>T (p.Gly650=)
c.1965G>T (p.Gly655=)
c.2127G>T (p.Gly709=)
c.2208G>T (p.Gly736=)
c.*227G>T (n.*227G>T)
n.672G>T
c.2448G>T (p.Gly816=)
c.2022G>T (p.Gly674=)
c.2046G>T (p.Gly682=)
n.2177G>T
c.2442G>T (p.Gly814=)
n.2622G>T
n.2602G>T
c.2094G>T (p.Gly698=)
n.2587G>T
20g.3228951C=CA2346475251SLC4A11c.2079G= (p.Gly693=)
c.2010G= (p.Gly670=)
c.1950G= (p.Gly650=)
c.1965G= (p.Gly655=)
c.2127G= (p.Gly709=)
c.2208G= (p.Gly736=)
c.*227G= (n.*227G=)
n.672G=
c.2448G= (p.Gly816=)
c.2022G= (p.Gly674=)
c.2046G= (p.Gly682=)
n.2177G=
c.2442G= (p.Gly814=)
n.2622G=
n.2602G=
c.2094G= (p.Gly698=)
n.2587G=
20g.3228951C>GCA509558296SLC4A11c.2079G>C (p.Gly693=)
c.2010G>C (p.Gly670=)
c.1950G>C (p.Gly650=)
c.1965G>C (p.Gly655=)
c.2127G>C (p.Gly709=)
c.2208G>C (p.Gly736=)
c.*227G>C (n.*227G>C)
n.672G>C
c.2448G>C (p.Gly816=)
c.2022G>C (p.Gly674=)
c.2046G>C (p.Gly682=)
n.2177G>C
c.2442G>C (p.Gly814=)
n.2622G>C
n.2602G>C
c.2094G>C (p.Gly698=)
n.2587G>C
 ClinVar
20g.3228951C>TCA509558297SLC4A11c.2079G>A (p.Gly693=)
c.2010G>A (p.Gly670=)
c.1950G>A (p.Gly650=)
c.1965G>A (p.Gly655=)
c.2127G>A (p.Gly709=)
c.2208G>A (p.Gly736=)
c.*227G>A (n.*227G>A)
n.672G>A
c.2448G>A (p.Gly816=)
c.2022G>A (p.Gly674=)
c.2046G>A (p.Gly682=)
n.2177G>A
c.2442G>A (p.Gly814=)
n.2622G>A
n.2602G>A
c.2094G>A (p.Gly698=)
n.2587G>A
 ClinVar dbSNP
20g.3228953delCA2695229232SLC4A11c.2079del (p.Leu694CysfsTer25)
c.2010del (p.Leu671CysfsTer25)
c.1950del (p.Leu651CysfsTer25)
c.1965del (p.Leu656CysfsTer25)
c.2127del (p.Leu710CysfsTer25)
c.2208del (p.Leu737CysfsTer25)
c.*227del (n.*227del)
n.672del
c.2448del (p.Leu817CysfsTer25)
c.2022del (p.Leu675CysfsTer25)
c.2046del (p.Leu683CysfsTer25)
n.2177del
c.2442del (p.Leu815CysfsTer25)
n.2622del
n.2602del
c.2094del (p.Leu699CysfsTer25)
n.2587del
20g.3228952C>ACA408087065SLC4A11c.2078G>T (p.Gly693Val)
c.2009G>T (p.Gly670Val)
c.1949G>T (p.Gly650Val)
c.1964G>T (p.Gly655Val)
c.2126G>T (p.Gly709Val)
c.2207G>T (p.Gly736Val)
c.*226G>T (n.*226G>T)
n.671G>T
c.2447G>T (p.Gly816Val)
c.2021G>T (p.Gly674Val)
c.2045G>T (p.Gly682Val)
n.2176G>T
c.2441G>T (p.Gly814Val)
n.2621G>T
n.2601G>T
c.2093G>T (p.Gly698Val)
n.2586G>T
20g.3228952C=CA2346475252SLC4A11c.2078G= (p.Gly693=)
c.2009G= (p.Gly670=)
c.1949G= (p.Gly650=)
c.1964G= (p.Gly655=)
c.2126G= (p.Gly709=)
c.2207G= (p.Gly736=)
c.*226G= (n.*226G=)
n.671G=
c.2447G= (p.Gly816=)
c.2021G= (p.Gly674=)
c.2045G= (p.Gly682=)
n.2176G=
c.2441G= (p.Gly814=)
n.2621G=
n.2601G=
c.2093G= (p.Gly698=)
n.2586G=
20g.3228952C>GCA408087066SLC4A11c.2078G>C (p.Gly693Ala)
c.2009G>C (p.Gly670Ala)
c.1949G>C (p.Gly650Ala)
c.1964G>C (p.Gly655Ala)
c.2126G>C (p.Gly709Ala)
c.2207G>C (p.Gly736Ala)
c.*226G>C (n.*226G>C)
n.671G>C
c.2447G>C (p.Gly816Ala)
c.2021G>C (p.Gly674Ala)
c.2045G>C (p.Gly682Ala)
n.2176G>C
c.2441G>C (p.Gly814Ala)
n.2621G>C
n.2601G>C
c.2093G>C (p.Gly698Ala)
n.2586G>C
20g.3228952C>TCA114924SLC4A11c.2078G>A (p.Gly693Glu)
c.2009G>A (p.Gly670Glu)
c.1949G>A (p.Gly650Glu)
c.1964G>A (p.Gly655Glu)
c.2126G>A (p.Gly709Glu)
c.2207G>A (p.Gly736Glu)
c.*226G>A (n.*226G>A)
n.671G>A
c.2447G>A (p.Gly816Glu)
c.2021G>A (p.Gly674Glu)
c.2045G>A (p.Gly682Glu)
n.2176G>A
c.2441G>A (p.Gly814Glu)
n.2621G>A
n.2601G>A
c.2093G>A (p.Gly698Glu)
n.2586G>A
 ClinVar dbSNP
20g.3228953C>ACA408087069SLC4A11c.2077G>T (p.Gly693Trp)
c.2008G>T (p.Gly670Trp)
c.1948G>T (p.Gly650Trp)
c.1963G>T (p.Gly655Trp)
c.2125G>T (p.Gly709Trp)
c.2206G>T (p.Gly736Trp)
c.*225G>T (n.*225G>T)
n.670G>T
c.2446G>T (p.Gly816Trp)
c.2020G>T (p.Gly674Trp)
c.2044G>T (p.Gly682Trp)
n.2175G>T
c.2440G>T (p.Gly814Trp)
n.2620G>T
n.2600G>T
c.2092G>T (p.Gly698Trp)
n.2585G>T
20g.3228953C>GCA408087068SLC4A11c.2077G>C (p.Gly693Arg)
c.2008G>C (p.Gly670Arg)
c.1948G>C (p.Gly650Arg)
c.1963G>C (p.Gly655Arg)
c.2125G>C (p.Gly709Arg)
c.2206G>C (p.Gly736Arg)
c.*225G>C (n.*225G>C)
n.670G>C
c.2446G>C (p.Gly816Arg)
c.2020G>C (p.Gly674Arg)
c.2044G>C (p.Gly682Arg)
n.2175G>C
c.2440G>C (p.Gly814Arg)
n.2620G>C
n.2600G>C
c.2092G>C (p.Gly698Arg)
n.2585G>C
20g.3228953C>TCA408087067SLC4A11c.2077G>A (p.Gly693Arg)
c.2008G>A (p.Gly670Arg)
c.1948G>A (p.Gly650Arg)
c.1963G>A (p.Gly655Arg)
c.2125G>A (p.Gly709Arg)
c.2206G>A (p.Gly736Arg)
c.*225G>A (n.*225G>A)
n.670G>A
c.2446G>A (p.Gly816Arg)
c.2020G>A (p.Gly674Arg)
c.2044G>A (p.Gly682Arg)
n.2175G>A
c.2440G>A (p.Gly814Arg)
n.2620G>A
n.2600G>A
c.2092G>A (p.Gly698Arg)
n.2585G>A
20g.3228954T>ACA509558299SLC4A11c.2076A>T (p.Thr692=)
c.2007A>T (p.Thr669=)
c.1947A>T (p.Thr649=)
c.1962A>T (p.Thr654=)
c.2124A>T (p.Thr708=)
c.2205A>T (p.Thr735=)
c.*224A>T (n.*224A>T)
n.669A>T
c.2445A>T (p.Thr815=)
c.2019A>T (p.Thr673=)
c.2043A>T (p.Thr681=)
n.2174A>T
c.2439A>T (p.Thr813=)
n.2619A>T
n.2599A>T
c.2091A>T (p.Thr697=)
n.2584A>T
20g.3228954T>CCA509558300SLC4A11c.2076A>G (p.Thr692=)
c.2007A>G (p.Thr669=)
c.1947A>G (p.Thr649=)
c.1962A>G (p.Thr654=)
c.2124A>G (p.Thr708=)
c.2205A>G (p.Thr735=)
c.*224A>G (n.*224A>G)
n.669A>G
c.2445A>G (p.Thr815=)
c.2019A>G (p.Thr673=)
c.2043A>G (p.Thr681=)
n.2174A>G
c.2439A>G (p.Thr813=)
n.2619A>G
n.2599A>G
c.2091A>G (p.Thr697=)
n.2584A>G
20g.3228954T>GCA509558301SLC4A11c.2076A>C (p.Thr692=)
c.2007A>C (p.Thr669=)
c.1947A>C (p.Thr649=)
c.1962A>C (p.Thr654=)
c.2124A>C (p.Thr708=)
c.2205A>C (p.Thr735=)
c.*224A>C (n.*224A>C)
n.669A>C
c.2445A>C (p.Thr815=)
c.2019A>C (p.Thr673=)
c.2043A>C (p.Thr681=)
n.2174A>C
c.2439A>C (p.Thr813=)
n.2619A>C
n.2599A>C
c.2091A>C (p.Thr697=)
n.2584A>C
20g.3228955G>ACA408087070SLC4A11c.2075C>T (p.Thr692Ile)
c.2006C>T (p.Thr669Ile)
c.1946C>T (p.Thr649Ile)
c.1961C>T (p.Thr654Ile)
c.2123C>T (p.Thr708Ile)
c.2204C>T (p.Thr735Ile)
c.*223C>T (n.*223C>T)
n.668C>T
c.2444C>T (p.Thr815Ile)
c.2018C>T (p.Thr673Ile)
c.2042C>T (p.Thr681Ile)
n.2173C>T
c.2438C>T (p.Thr813Ile)
n.2618C>T
n.2598C>T
c.2090C>T (p.Thr697Ile)
n.2583C>T
20g.3228955G>CCA408087072SLC4A11c.2075C>G (p.Thr692Arg)
c.2006C>G (p.Thr669Arg)
c.1946C>G (p.Thr649Arg)
c.1961C>G (p.Thr654Arg)
c.2123C>G (p.Thr708Arg)
c.2204C>G (p.Thr735Arg)
c.*223C>G (n.*223C>G)
n.668C>G
c.2444C>G (p.Thr815Arg)
c.2018C>G (p.Thr673Arg)
c.2042C>G (p.Thr681Arg)
n.2173C>G
c.2438C>G (p.Thr813Arg)
n.2618C>G
n.2598C>G
c.2090C>G (p.Thr697Arg)
n.2583C>G
20g.3228955G>TCA408087071SLC4A11c.2075C>A (p.Thr692Lys)
c.2006C>A (p.Thr669Lys)
c.1946C>A (p.Thr649Lys)
c.1961C>A (p.Thr654Lys)
c.2123C>A (p.Thr708Lys)
c.2204C>A (p.Thr735Lys)
c.*223C>A (n.*223C>A)
n.668C>A
c.2444C>A (p.Thr815Lys)
c.2018C>A (p.Thr673Lys)
c.2042C>A (p.Thr681Lys)
n.2173C>A
c.2438C>A (p.Thr813Lys)
n.2618C>A
n.2598C>A
c.2090C>A (p.Thr697Lys)
n.2583C>A
20g.3228956T>ACA408087073SLC4A11c.2074A>T (p.Thr692Ser)
c.2005A>T (p.Thr669Ser)
c.1945A>T (p.Thr649Ser)
c.1960A>T (p.Thr654Ser)
c.2122A>T (p.Thr708Ser)
c.2203A>T (p.Thr735Ser)
c.*222A>T (n.*222A>T)
n.667A>T
c.2443A>T (p.Thr815Ser)
c.2017A>T (p.Thr673Ser)
c.2041A>T (p.Thr681Ser)
n.2172A>T
c.2437A>T (p.Thr813Ser)
n.2617A>T
n.2597A>T
c.2089A>T (p.Thr697Ser)
n.2582A>T
20g.3228956T>CCA408087074SLC4A11c.2074A>G (p.Thr692Ala)
c.2005A>G (p.Thr669Ala)
c.1945A>G (p.Thr649Ala)
c.1960A>G (p.Thr654Ala)
c.2122A>G (p.Thr708Ala)
c.2203A>G (p.Thr735Ala)
c.*222A>G (n.*222A>G)
n.667A>G
c.2443A>G (p.Thr815Ala)
c.2017A>G (p.Thr673Ala)
c.2041A>G (p.Thr681Ala)
n.2172A>G
c.2437A>G (p.Thr813Ala)
n.2617A>G
n.2597A>G
c.2089A>G (p.Thr697Ala)
n.2582A>G
 dbSNP gnomAD v3 gnomAD v4
20g.3228956T>GCA408087075SLC4A11c.2074A>C (p.Thr692Pro)
c.2005A>C (p.Thr669Pro)
c.1945A>C (p.Thr649Pro)
c.1960A>C (p.Thr654Pro)
c.2122A>C (p.Thr708Pro)
c.2203A>C (p.Thr735Pro)
c.*222A>C (n.*222A>C)
n.667A>C
c.2443A>C (p.Thr815Pro)
c.2017A>C (p.Thr673Pro)
c.2041A>C (p.Thr681Pro)
n.2172A>C
c.2437A>C (p.Thr813Pro)
n.2617A>C
n.2597A>C
c.2089A>C (p.Thr697Pro)
n.2582A>C
20g.3228956T=CA2346475253SLC4A11c.2074A= (p.Thr692=)
c.2005A= (p.Thr669=)
c.1945A= (p.Thr649=)
c.1960A= (p.Thr654=)
c.2122A= (p.Thr708=)
c.2203A= (p.Thr735=)
c.*222A= (n.*222A=)
n.667A=
c.2443A= (p.Thr815=)
c.2017A= (p.Thr673=)
c.2041A= (p.Thr681=)
n.2172A=
c.2437A= (p.Thr813=)
n.2617A=
n.2597A=
c.2089A= (p.Thr697=)
n.2582A=
20g.3228957G>ACA9741594SLC4A11c.2073C>T (p.Asn691=)
c.2004C>T (p.Asn668=)
c.1944C>T (p.Asn648=)
c.1959C>T (p.Asn653=)
c.2121C>T (p.Asn707=)
c.2202C>T (p.Asn734=)
c.*221C>T (n.*221C>T)
n.666C>T
c.2442C>T (p.Asn814=)
c.2016C>T (p.Asn672=)
c.2040C>T (p.Asn680=)
n.2171C>T
c.2436C>T (p.Asn812=)
n.2616C>T
n.2596C>T
c.2088C>T (p.Asn696=)
n.2581C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228957G>CCA408087076SLC4A11c.2073C>G (p.Asn691Lys)
c.2004C>G (p.Asn668Lys)
c.1944C>G (p.Asn648Lys)
c.1959C>G (p.Asn653Lys)
c.2121C>G (p.Asn707Lys)
c.2202C>G (p.Asn734Lys)
c.*221C>G (n.*221C>G)
n.666C>G
c.2442C>G (p.Asn814Lys)
c.2016C>G (p.Asn672Lys)
c.2040C>G (p.Asn680Lys)
n.2171C>G
c.2436C>G (p.Asn812Lys)
n.2616C>G
n.2596C>G
c.2088C>G (p.Asn696Lys)
n.2581C>G
20g.3228957G=CA2346475254SLC4A11c.2073C= (p.Asn691=)
c.2004C= (p.Asn668=)
c.1944C= (p.Asn648=)
c.1959C= (p.Asn653=)
c.2121C= (p.Asn707=)
c.2202C= (p.Asn734=)
c.*221C= (n.*221C=)
n.666C=
c.2442C= (p.Asn814=)
c.2016C= (p.Asn672=)
c.2040C= (p.Asn680=)
n.2171C=
c.2436C= (p.Asn812=)
n.2616C=
n.2596C=
c.2088C= (p.Asn696=)
n.2581C=
20g.3228957G>TCA408087077SLC4A11c.2073C>A (p.Asn691Lys)
c.2004C>A (p.Asn668Lys)
c.1944C>A (p.Asn648Lys)
c.1959C>A (p.Asn653Lys)
c.2121C>A (p.Asn707Lys)
c.2202C>A (p.Asn734Lys)
c.*221C>A (n.*221C>A)
n.666C>A
c.2442C>A (p.Asn814Lys)
c.2016C>A (p.Asn672Lys)
c.2040C>A (p.Asn680Lys)
n.2171C>A
c.2436C>A (p.Asn812Lys)
n.2616C>A
n.2596C>A
c.2088C>A (p.Asn696Lys)
n.2581C>A
20g.3228958T>ACA408087078SLC4A11c.2072A>T (p.Asn691Ile)
c.2003A>T (p.Asn668Ile)
c.1943A>T (p.Asn648Ile)
c.1958A>T (p.Asn653Ile)
c.2120A>T (p.Asn707Ile)
c.2201A>T (p.Asn734Ile)
c.*220A>T (n.*220A>T)
n.665A>T
c.2441A>T (p.Asn814Ile)
c.2015A>T (p.Asn672Ile)
c.2039A>T (p.Asn680Ile)
n.2170A>T
c.2435A>T (p.Asn812Ile)
n.2615A>T
n.2595A>T
c.2087A>T (p.Asn696Ile)
n.2580A>T
20g.3228958T>CCA408087079SLC4A11c.2072A>G (p.Asn691Ser)
c.2003A>G (p.Asn668Ser)
c.1943A>G (p.Asn648Ser)
c.1958A>G (p.Asn653Ser)
c.2120A>G (p.Asn707Ser)
c.2201A>G (p.Asn734Ser)
c.*220A>G (n.*220A>G)
n.665A>G
c.2441A>G (p.Asn814Ser)
c.2015A>G (p.Asn672Ser)
c.2039A>G (p.Asn680Ser)
n.2170A>G
c.2435A>G (p.Asn812Ser)
n.2615A>G
n.2595A>G
c.2087A>G (p.Asn696Ser)
n.2580A>G
 COSMIC COSMIC
20g.3228958T>GCA408087080SLC4A11c.2072A>C (p.Asn691Thr)
c.2003A>C (p.Asn668Thr)
c.1943A>C (p.Asn648Thr)
c.1958A>C (p.Asn653Thr)
c.2120A>C (p.Asn707Thr)
c.2201A>C (p.Asn734Thr)
c.*220A>C (n.*220A>C)
n.665A>C
c.2441A>C (p.Asn814Thr)
c.2015A>C (p.Asn672Thr)
c.2039A>C (p.Asn680Thr)
n.2170A>C
c.2435A>C (p.Asn812Thr)
n.2615A>C
n.2595A>C
c.2087A>C (p.Asn696Thr)
n.2580A>C
20g.3228958_3228961delinsTTGACA2346475255SLC4A11c.2069_2072delinsTCAA (p.Ile690=)
c.2000_2003delinsTCAA (p.Ile667=)
c.1940_1943delinsTCAA (p.Ile647=)
c.1955_1958delinsTCAA (p.Ile652=)
c.2117_2120delinsTCAA (p.Ile706=)
c.2198_2201delinsTCAA (p.Ile733=)
c.*217_*220delinsTCAA (n.*217_*220delinsTCAA)
n.662_665delinsTCAA
c.2438_2441delinsTCAA (p.Ile813=)
c.2012_2015delinsTCAA (p.Ile671=)
c.2036_2039delinsTCAA (p.Ile679=)
n.2167_2170delinsTCAA
c.2432_2435delinsTCAA (p.Ile811=)
n.2612_2615delinsTCAA
n.2592_2595delinsTCAA
c.2084_2087delinsTCAA (p.Ile695=)
n.2577_2580delinsTCAA
20g.3228959T>ACA408087081SLC4A11c.2071A>T (p.Asn691Tyr)
c.2002A>T (p.Asn668Tyr)
c.1942A>T (p.Asn648Tyr)
c.1957A>T (p.Asn653Tyr)
c.2119A>T (p.Asn707Tyr)
c.2200A>T (p.Asn734Tyr)
c.*219A>T (n.*219A>T)
n.664A>T
c.2440A>T (p.Asn814Tyr)
c.2014A>T (p.Asn672Tyr)
c.2038A>T (p.Asn680Tyr)
n.2169A>T
c.2434A>T (p.Asn812Tyr)
n.2614A>T
n.2594A>T
c.2086A>T (p.Asn696Tyr)
n.2579A>T
20g.3228959T>CCA408087082SLC4A11c.2071A>G (p.Asn691Asp)
c.2002A>G (p.Asn668Asp)
c.1942A>G (p.Asn648Asp)
c.1957A>G (p.Asn653Asp)
c.2119A>G (p.Asn707Asp)
c.2200A>G (p.Asn734Asp)
c.*219A>G (n.*219A>G)
n.664A>G
c.2440A>G (p.Asn814Asp)
c.2014A>G (p.Asn672Asp)
c.2038A>G (p.Asn680Asp)
n.2169A>G
c.2434A>G (p.Asn812Asp)
n.2614A>G
n.2594A>G
c.2086A>G (p.Asn696Asp)
n.2579A>G
20g.3228959T>GCA408087083SLC4A11c.2071A>C (p.Asn691His)
c.2002A>C (p.Asn668His)
c.1942A>C (p.Asn648His)
c.1957A>C (p.Asn653His)
c.2119A>C (p.Asn707His)
c.2200A>C (p.Asn734His)
c.*219A>C (n.*219A>C)
n.664A>C
c.2440A>C (p.Asn814His)
c.2014A>C (p.Asn672His)
c.2038A>C (p.Asn680His)
n.2169A>C
c.2434A>C (p.Asn812His)
n.2614A>C
n.2594A>C
c.2086A>C (p.Asn696His)
n.2579A>C
20g.3228964_3228966delCA920153246SLC4A11c.2069_2071del (p.Ile690del)
c.2000_2002del (p.Ile667del)
c.1940_1942del (p.Ile647del)
c.1955_1957del (p.Ile652del)
c.2117_2119del (p.Ile706del)
c.2198_2200del (p.Ile733del)
c.*217_*219del (n.*217_*219del)
n.662_664del
c.2438_2440del (p.Ile813del)
c.2012_2014del (p.Ile671del)
c.2036_2038del (p.Ile679del)
n.2167_2169del
c.2432_2434del (p.Ile811del)
n.2612_2614del
n.2592_2594del
c.2084_2086del (p.Ile695del)
n.2577_2579del
 dbSNP gnomAD v4
20g.3228960G>ACA509558306SLC4A11c.2070C>T (p.Ile690=)
c.2001C>T (p.Ile667=)
c.1941C>T (p.Ile647=)
c.1956C>T (p.Ile652=)
c.2118C>T (p.Ile706=)
c.2199C>T (p.Ile733=)
c.*218C>T (n.*218C>T)
n.663C>T
c.2439C>T (p.Ile813=)
c.2013C>T (p.Ile671=)
c.2037C>T (p.Ile679=)
n.2168C>T
c.2433C>T (p.Ile811=)
n.2613C>T
n.2593C>T
c.2085C>T (p.Ile695=)
n.2578C>T
 gnomAD v4
20g.3228960G>CCA408087084SLC4A11c.2070C>G (p.Ile690Met)
c.2001C>G (p.Ile667Met)
c.1941C>G (p.Ile647Met)
c.1956C>G (p.Ile652Met)
c.2118C>G (p.Ile706Met)
c.2199C>G (p.Ile733Met)
c.*218C>G (n.*218C>G)
n.663C>G
c.2439C>G (p.Ile813Met)
c.2013C>G (p.Ile671Met)
c.2037C>G (p.Ile679Met)
n.2168C>G
c.2433C>G (p.Ile811Met)
n.2613C>G
n.2593C>G
c.2085C>G (p.Ile695Met)
n.2578C>G
20g.3228960G>TCA509558305SLC4A11c.2070C>A (p.Ile690=)
c.2001C>A (p.Ile667=)
c.1941C>A (p.Ile647=)
c.1956C>A (p.Ile652=)
c.2118C>A (p.Ile706=)
c.2199C>A (p.Ile733=)
c.*218C>A (n.*218C>A)
n.663C>A
c.2439C>A (p.Ile813=)
c.2013C>A (p.Ile671=)
c.2037C>A (p.Ile679=)
n.2168C>A
c.2433C>A (p.Ile811=)
n.2613C>A
n.2593C>A
c.2085C>A (p.Ile695=)
n.2578C>A
20g.3228961A>CCA408087087SLC4A11c.2069T>G (p.Ile690Ser)
c.2000T>G (p.Ile667Ser)
c.1940T>G (p.Ile647Ser)
c.1955T>G (p.Ile652Ser)
c.2117T>G (p.Ile706Ser)
c.2198T>G (p.Ile733Ser)
c.*217T>G (n.*217T>G)
n.662T>G
c.2438T>G (p.Ile813Ser)
c.2012T>G (p.Ile671Ser)
c.2036T>G (p.Ile679Ser)
n.2167T>G
c.2432T>G (p.Ile811Ser)
n.2612T>G
n.2592T>G
c.2084T>G (p.Ile695Ser)
n.2577T>G
20g.3228961A>GCA408087086SLC4A11c.2069T>C (p.Ile690Thr)
c.2000T>C (p.Ile667Thr)
c.1940T>C (p.Ile647Thr)
c.1955T>C (p.Ile652Thr)
c.2117T>C (p.Ile706Thr)
c.2198T>C (p.Ile733Thr)
c.*217T>C (n.*217T>C)
n.662T>C
c.2438T>C (p.Ile813Thr)
c.2012T>C (p.Ile671Thr)
c.2036T>C (p.Ile679Thr)
n.2167T>C
c.2432T>C (p.Ile811Thr)
n.2612T>C
n.2592T>C
c.2084T>C (p.Ile695Thr)
n.2577T>C
20g.3228961A>TCA408087085SLC4A11c.2069T>A (p.Ile690Asn)
c.2000T>A (p.Ile667Asn)
c.1940T>A (p.Ile647Asn)
c.1955T>A (p.Ile652Asn)
c.2117T>A (p.Ile706Asn)
c.2198T>A (p.Ile733Asn)
c.*217T>A (n.*217T>A)
n.662T>A
c.2438T>A (p.Ile813Asn)
c.2012T>A (p.Ile671Asn)
c.2036T>A (p.Ile679Asn)
n.2167T>A
c.2432T>A (p.Ile811Asn)
n.2612T>A
n.2592T>A
c.2084T>A (p.Ile695Asn)
n.2577T>A
20g.3228962T>ACA408087088SLC4A11c.2068A>T (p.Ile690Phe)
c.1999A>T (p.Ile667Phe)
c.1939A>T (p.Ile647Phe)
c.1954A>T (p.Ile652Phe)
c.2116A>T (p.Ile706Phe)
c.2197A>T (p.Ile733Phe)
c.*216A>T (n.*216A>T)
n.661A>T
c.2437A>T (p.Ile813Phe)
c.2011A>T (p.Ile671Phe)
c.2035A>T (p.Ile679Phe)
n.2166A>T
c.2431A>T (p.Ile811Phe)
n.2611A>T
n.2591A>T
c.2083A>T (p.Ile695Phe)
n.2576A>T
20g.3228962T>CCA408087089SLC4A11c.2068A>G (p.Ile690Val)
c.1999A>G (p.Ile667Val)
c.1939A>G (p.Ile647Val)
c.1954A>G (p.Ile652Val)
c.2116A>G (p.Ile706Val)
c.2197A>G (p.Ile733Val)
c.*216A>G (n.*216A>G)
n.661A>G
c.2437A>G (p.Ile813Val)
c.2011A>G (p.Ile671Val)
c.2035A>G (p.Ile679Val)
n.2166A>G
c.2431A>G (p.Ile811Val)
n.2611A>G
n.2591A>G
c.2083A>G (p.Ile695Val)
n.2576A>G
 dbSNP gnomAD v2 gnomAD v4
20g.3228962T>GCA408087090SLC4A11c.2068A>C (p.Ile690Leu)
c.1999A>C (p.Ile667Leu)
c.1939A>C (p.Ile647Leu)
c.1954A>C (p.Ile652Leu)
c.2116A>C (p.Ile706Leu)
c.2197A>C (p.Ile733Leu)
c.*216A>C (n.*216A>C)
n.661A>C
c.2437A>C (p.Ile813Leu)
c.2011A>C (p.Ile671Leu)
c.2035A>C (p.Ile679Leu)
n.2166A>C
c.2431A>C (p.Ile811Leu)
n.2611A>C
n.2591A>C
c.2083A>C (p.Ile695Leu)
n.2576A>C
20g.3228962T=CA2346475256SLC4A11c.2068A= (p.Ile690=)
c.1999A= (p.Ile667=)
c.1939A= (p.Ile647=)
c.1954A= (p.Ile652=)
c.2116A= (p.Ile706=)
c.2197A= (p.Ile733=)
c.*216A= (n.*216A=)
n.661A=
c.2437A= (p.Ile813=)
c.2011A= (p.Ile671=)
c.2035A= (p.Ile679=)
n.2166A=
c.2431A= (p.Ile811=)
n.2611A=
n.2591A=
c.2083A= (p.Ile695=)
n.2576A=
20g.3228963G>ACA310985950SLC4A11c.2067C>T (p.Ile689=)
c.1998C>T (p.Ile666=)
c.1938C>T (p.Ile646=)
c.1953C>T (p.Ile651=)
c.2115C>T (p.Ile705=)
c.2196C>T (p.Ile732=)
c.*215C>T (n.*215C>T)
n.660C>T
c.2436C>T (p.Ile812=)
c.2010C>T (p.Ile670=)
c.2034C>T (p.Ile678=)
n.2165C>T
c.2430C>T (p.Ile810=)
n.2610C>T
n.2590C>T
c.2082C>T (p.Ile694=)
n.2575C>T
 dbSNP gnomAD v3 gnomAD v4
20g.3228963G>CCA408087091SLC4A11c.2067C>G (p.Ile689Met)
c.1998C>G (p.Ile666Met)
c.1938C>G (p.Ile646Met)
c.1953C>G (p.Ile651Met)
c.2115C>G (p.Ile705Met)
c.2196C>G (p.Ile732Met)
c.*215C>G (n.*215C>G)
n.660C>G
c.2436C>G (p.Ile812Met)
c.2010C>G (p.Ile670Met)
c.2034C>G (p.Ile678Met)
n.2165C>G
c.2430C>G (p.Ile810Met)
n.2610C>G
n.2590C>G
c.2082C>G (p.Ile694Met)
n.2575C>G
20g.3228963G=CA2346475257SLC4A11c.2067C= (p.Ile689=)
c.1998C= (p.Ile666=)
c.1938C= (p.Ile646=)
c.1953C= (p.Ile651=)
c.2115C= (p.Ile705=)
c.2196C= (p.Ile732=)
c.*215C= (n.*215C=)
n.660C=
c.2436C= (p.Ile812=)
c.2010C= (p.Ile670=)
c.2034C= (p.Ile678=)
n.2165C=
c.2430C= (p.Ile810=)
n.2610C=
n.2590C=
c.2082C= (p.Ile694=)
n.2575C=
20g.3228963G>TCA509558196SLC4A11c.2067C>A (p.Ile689=)
c.1998C>A (p.Ile666=)
c.1938C>A (p.Ile646=)
c.1953C>A (p.Ile651=)
c.2115C>A (p.Ile705=)
c.2196C>A (p.Ile732=)
c.*215C>A (n.*215C>A)
n.660C>A
c.2436C>A (p.Ile812=)
c.2010C>A (p.Ile670=)
c.2034C>A (p.Ile678=)
n.2165C>A
c.2430C>A (p.Ile810=)
n.2610C>A
n.2590C>A
c.2082C>A (p.Ile694=)
n.2575C>A
20g.3228964A>CCA408087092SLC4A11c.2066T>G (p.Ile689Ser)
c.1997T>G (p.Ile666Ser)
c.1937T>G (p.Ile646Ser)
c.1952T>G (p.Ile651Ser)
c.2114T>G (p.Ile705Ser)
c.2195T>G (p.Ile732Ser)
c.*214T>G (n.*214T>G)
n.659T>G
c.2435T>G (p.Ile812Ser)
c.2009T>G (p.Ile670Ser)
c.2033T>G (p.Ile678Ser)
n.2164T>G
c.2429T>G (p.Ile810Ser)
n.2609T>G
n.2589T>G
c.2081T>G (p.Ile694Ser)
n.2574T>G
20g.3228964A>GCA408087093SLC4A11c.2066T>C (p.Ile689Thr)
c.1997T>C (p.Ile666Thr)
c.1937T>C (p.Ile646Thr)
c.1952T>C (p.Ile651Thr)
c.2114T>C (p.Ile705Thr)
c.2195T>C (p.Ile732Thr)
c.*214T>C (n.*214T>C)
n.659T>C
c.2435T>C (p.Ile812Thr)
c.2009T>C (p.Ile670Thr)
c.2033T>C (p.Ile678Thr)
n.2164T>C
c.2429T>C (p.Ile810Thr)
n.2609T>C
n.2589T>C
c.2081T>C (p.Ile694Thr)
n.2574T>C
20g.3228964A>TCA408087094SLC4A11c.2066T>A (p.Ile689Asn)
c.1997T>A (p.Ile666Asn)
c.1937T>A (p.Ile646Asn)
c.1952T>A (p.Ile651Asn)
c.2114T>A (p.Ile705Asn)
c.2195T>A (p.Ile732Asn)
c.*214T>A (n.*214T>A)
n.659T>A
c.2435T>A (p.Ile812Asn)
c.2009T>A (p.Ile670Asn)
c.2033T>A (p.Ile678Asn)
n.2164T>A
c.2429T>A (p.Ile810Asn)
n.2609T>A
n.2589T>A
c.2081T>A (p.Ile694Asn)
n.2574T>A
20g.3228965T>ACA408087095SLC4A11c.2065A>T (p.Ile689Phe)
c.1996A>T (p.Ile666Phe)
c.1936A>T (p.Ile646Phe)
c.1951A>T (p.Ile651Phe)
c.2113A>T (p.Ile705Phe)
c.2194A>T (p.Ile732Phe)
c.*213A>T (n.*213A>T)
n.658A>T
c.2434A>T (p.Ile812Phe)
c.2008A>T (p.Ile670Phe)
c.2032A>T (p.Ile678Phe)
n.2163A>T
c.2428A>T (p.Ile810Phe)
n.2608A>T
n.2588A>T
c.2080A>T (p.Ile694Phe)
n.2573A>T
20g.3228965T>CCA408087096SLC4A11c.2065A>G (p.Ile689Val)
c.1996A>G (p.Ile666Val)
c.1936A>G (p.Ile646Val)
c.1951A>G (p.Ile651Val)
c.2113A>G (p.Ile705Val)
c.2194A>G (p.Ile732Val)
c.*213A>G (n.*213A>G)
n.658A>G
c.2434A>G (p.Ile812Val)
c.2008A>G (p.Ile670Val)
c.2032A>G (p.Ile678Val)
n.2163A>G
c.2428A>G (p.Ile810Val)
n.2608A>G
n.2588A>G
c.2080A>G (p.Ile694Val)
n.2573A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228965T>GCA408087097SLC4A11c.2065A>C (p.Ile689Leu)
c.1996A>C (p.Ile666Leu)
c.1936A>C (p.Ile646Leu)
c.1951A>C (p.Ile651Leu)
c.2113A>C (p.Ile705Leu)
c.2194A>C (p.Ile732Leu)
c.*213A>C (n.*213A>C)
n.658A>C
c.2434A>C (p.Ile812Leu)
c.2008A>C (p.Ile670Leu)
c.2032A>C (p.Ile678Leu)
n.2163A>C
c.2428A>C (p.Ile810Leu)
n.2608A>C
n.2588A>C
c.2080A>C (p.Ile694Leu)
n.2573A>C
20g.3228965T=CA2346475258SLC4A11c.2065A= (p.Ile689=)
c.1996A= (p.Ile666=)
c.1936A= (p.Ile646=)
c.1951A= (p.Ile651=)
c.2113A= (p.Ile705=)
c.2194A= (p.Ile732=)
c.*213A= (n.*213A=)
n.658A=
c.2434A= (p.Ile812=)
c.2008A= (p.Ile670=)
c.2032A= (p.Ile678=)
n.2163A=
c.2428A= (p.Ile810=)
n.2608A=
n.2588A=
c.2080A= (p.Ile694=)
n.2573A=
20g.3228966G>ACA509558199SLC4A11c.2064C>T (p.Ala688=)
c.1995C>T (p.Ala665=)
c.1935C>T (p.Ala645=)
c.1950C>T (p.Ala650=)
c.2112C>T (p.Ala704=)
c.2193C>T (p.Ala731=)
c.*212C>T (n.*212C>T)
n.657C>T
c.2433C>T (p.Ala811=)
c.2007C>T (p.Ala669=)
c.2031C>T (p.Ala677=)
n.2162C>T
c.2427C>T (p.Ala809=)
n.2607C>T
n.2587C>T
c.2079C>T (p.Ala693=)
n.2572C>T
 gnomAD v4
20g.3228966G>CCA509558201SLC4A11c.2064C>G (p.Ala688=)
c.1995C>G (p.Ala665=)
c.1935C>G (p.Ala645=)
c.1950C>G (p.Ala650=)
c.2112C>G (p.Ala704=)
c.2193C>G (p.Ala731=)
c.*212C>G (n.*212C>G)
n.657C>G
c.2433C>G (p.Ala811=)
c.2007C>G (p.Ala669=)
c.2031C>G (p.Ala677=)
n.2162C>G
c.2427C>G (p.Ala809=)
n.2607C>G
n.2587C>G
c.2079C>G (p.Ala693=)
n.2572C>G
20g.3228966G>TCA509558203SLC4A11c.2064C>A (p.Ala688=)
c.1995C>A (p.Ala665=)
c.1935C>A (p.Ala645=)
c.1950C>A (p.Ala650=)
c.2112C>A (p.Ala704=)
c.2193C>A (p.Ala731=)
c.*212C>A (n.*212C>A)
n.657C>A
c.2433C>A (p.Ala811=)
c.2007C>A (p.Ala669=)
c.2031C>A (p.Ala677=)
n.2162C>A
c.2427C>A (p.Ala809=)
n.2607C>A
n.2587C>A
c.2079C>A (p.Ala693=)
n.2572C>A
20g.3228967G>ACA408087098SLC4A11c.2063C>T (p.Ala688Val)
c.1994C>T (p.Ala665Val)
c.1934C>T (p.Ala645Val)
c.1949C>T (p.Ala650Val)
c.2111C>T (p.Ala704Val)
c.2192C>T (p.Ala731Val)
c.*211C>T (n.*211C>T)
n.656C>T
c.2432C>T (p.Ala811Val)
c.2006C>T (p.Ala669Val)
c.2030C>T (p.Ala677Val)
n.2161C>T
c.2426C>T (p.Ala809Val)
n.2606C>T
n.2586C>T
c.2078C>T (p.Ala693Val)
n.2571C>T
 dbSNP gnomAD v4
20g.3228967G>CCA408087099SLC4A11c.2063C>G (p.Ala688Gly)
c.1994C>G (p.Ala665Gly)
c.1934C>G (p.Ala645Gly)
c.1949C>G (p.Ala650Gly)
c.2111C>G (p.Ala704Gly)
c.2192C>G (p.Ala731Gly)
c.*211C>G (n.*211C>G)
n.656C>G
c.2432C>G (p.Ala811Gly)
c.2006C>G (p.Ala669Gly)
c.2030C>G (p.Ala677Gly)
n.2161C>G
c.2426C>G (p.Ala809Gly)
n.2606C>G
n.2586C>G
c.2078C>G (p.Ala693Gly)
n.2571C>G
20g.3228967G=CA2346475259SLC4A11c.2063C= (p.Ala688=)
c.1994C= (p.Ala665=)
c.1934C= (p.Ala645=)
c.1949C= (p.Ala650=)
c.2111C= (p.Ala704=)
c.2192C= (p.Ala731=)
c.*211C= (n.*211C=)
n.656C=
c.2432C= (p.Ala811=)
c.2006C= (p.Ala669=)
c.2030C= (p.Ala677=)
n.2161C=
c.2426C= (p.Ala809=)
n.2606C=
n.2586C=
c.2078C= (p.Ala693=)
n.2571C=
20g.3228967G>TCA408087100SLC4A11c.2063C>A (p.Ala688Asp)
c.1994C>A (p.Ala665Asp)
c.1934C>A (p.Ala645Asp)
c.1949C>A (p.Ala650Asp)
c.2111C>A (p.Ala704Asp)
c.2192C>A (p.Ala731Asp)
c.*211C>A (n.*211C>A)
n.656C>A
c.2432C>A (p.Ala811Asp)
c.2006C>A (p.Ala669Asp)
c.2030C>A (p.Ala677Asp)
n.2161C>A
c.2426C>A (p.Ala809Asp)
n.2606C>A
n.2586C>A
c.2078C>A (p.Ala693Asp)
n.2571C>A
20g.3228968C>ACA408087101SLC4A11c.2062G>T (p.Ala688Ser)
c.1993G>T (p.Ala665Ser)
c.1933G>T (p.Ala645Ser)
c.1948G>T (p.Ala650Ser)
c.2110G>T (p.Ala704Ser)
c.2191G>T (p.Ala731Ser)
c.*210G>T (n.*210G>T)
n.655G>T
c.2431G>T (p.Ala811Ser)
c.2005G>T (p.Ala669Ser)
c.2029G>T (p.Ala677Ser)
n.2160G>T
c.2425G>T (p.Ala809Ser)
n.2605G>T
n.2585G>T
c.2077G>T (p.Ala693Ser)
n.2570G>T
20g.3228968C=CA2346475260SLC4A11c.2062G= (p.Ala688=)
c.1993G= (p.Ala665=)
c.1933G= (p.Ala645=)
c.1948G= (p.Ala650=)
c.2110G= (p.Ala704=)
c.2191G= (p.Ala731=)
c.*210G= (n.*210G=)
n.655G=
c.2431G= (p.Ala811=)
c.2005G= (p.Ala669=)
c.2029G= (p.Ala677=)
n.2160G=
c.2425G= (p.Ala809=)
n.2605G=
n.2585G=
c.2077G= (p.Ala693=)
n.2570G=
20g.3228968C>GCA408087102SLC4A11c.2062G>C (p.Ala688Pro)
c.1993G>C (p.Ala665Pro)
c.1933G>C (p.Ala645Pro)
c.1948G>C (p.Ala650Pro)
c.2110G>C (p.Ala704Pro)
c.2191G>C (p.Ala731Pro)
c.*210G>C (n.*210G>C)
n.655G>C
c.2431G>C (p.Ala811Pro)
c.2005G>C (p.Ala669Pro)
c.2029G>C (p.Ala677Pro)
n.2160G>C
c.2425G>C (p.Ala809Pro)
n.2605G>C
n.2585G>C
c.2077G>C (p.Ala693Pro)
n.2570G>C
20g.3228968C>TCA9741595SLC4A11c.2062G>A (p.Ala688Thr)
c.1993G>A (p.Ala665Thr)
c.1933G>A (p.Ala645Thr)
c.1948G>A (p.Ala650Thr)
c.2110G>A (p.Ala704Thr)
c.2191G>A (p.Ala731Thr)
c.*210G>A (n.*210G>A)
n.655G>A
c.2431G>A (p.Ala811Thr)
c.2005G>A (p.Ala669Thr)
c.2029G>A (p.Ala677Thr)
n.2160G>A
c.2425G>A (p.Ala809Thr)
n.2605G>A
n.2585G>A
c.2077G>A (p.Ala693Thr)
n.2570G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228969G>ACA9741596SLC4A11c.2061C>T (p.Leu687=)
c.1992C>T (p.Leu664=)
c.1932C>T (p.Leu644=)
c.1947C>T (p.Leu649=)
c.2109C>T (p.Leu703=)
c.2190C>T (p.Leu730=)
c.*209C>T (n.*209C>T)
n.654C>T
c.2430C>T (p.Leu810=)
c.2004C>T (p.Leu668=)
c.2028C>T (p.Leu676=)
n.2159C>T
c.2424C>T (p.Leu808=)
n.2604C>T
n.2584C>T
c.2076C>T (p.Leu692=)
n.2569C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228969G>CCA509558208SLC4A11c.2061C>G (p.Leu687=)
c.1992C>G (p.Leu664=)
c.1932C>G (p.Leu644=)
c.1947C>G (p.Leu649=)
c.2109C>G (p.Leu703=)
c.2190C>G (p.Leu730=)
c.*209C>G (n.*209C>G)
n.654C>G
c.2430C>G (p.Leu810=)
c.2004C>G (p.Leu668=)
c.2028C>G (p.Leu676=)
n.2159C>G
c.2424C>G (p.Leu808=)
n.2604C>G
n.2584C>G
c.2076C>G (p.Leu692=)
n.2569C>G
20g.3228969G=CA2346475261SLC4A11c.2061C= (p.Leu687=)
c.1992C= (p.Leu664=)
c.1932C= (p.Leu644=)
c.1947C= (p.Leu649=)
c.2109C= (p.Leu703=)
c.2190C= (p.Leu730=)
c.*209C= (n.*209C=)
n.654C=
c.2430C= (p.Leu810=)
c.2004C= (p.Leu668=)
c.2028C= (p.Leu676=)
n.2159C=
c.2424C= (p.Leu808=)
n.2604C=
n.2584C=
c.2076C= (p.Leu692=)
n.2569C=
20g.3228969G>TCA509558209SLC4A11c.2061C>A (p.Leu687=)
c.1992C>A (p.Leu664=)
c.1932C>A (p.Leu644=)
c.1947C>A (p.Leu649=)
c.2109C>A (p.Leu703=)
c.2190C>A (p.Leu730=)
c.*209C>A (n.*209C>A)
n.654C>A
c.2430C>A (p.Leu810=)
c.2004C>A (p.Leu668=)
c.2028C>A (p.Leu676=)
n.2159C>A
c.2424C>A (p.Leu808=)
n.2604C>A
n.2584C>A
c.2076C>A (p.Leu692=)
n.2569C>A
20g.3228970A>CCA408087103SLC4A11c.2060T>G (p.Leu687Arg)
c.1991T>G (p.Leu664Arg)
c.1931T>G (p.Leu644Arg)
c.1946T>G (p.Leu649Arg)
c.2108T>G (p.Leu703Arg)
c.2189T>G (p.Leu730Arg)
c.*208T>G (n.*208T>G)
n.653T>G
c.2429T>G (p.Leu810Arg)
c.2003T>G (p.Leu668Arg)
c.2027T>G (p.Leu676Arg)
n.2158T>G
c.2423T>G (p.Leu808Arg)
n.2603T>G
n.2583T>G
c.2075T>G (p.Leu692Arg)
n.2568T>G
20g.3228970A>GCA408087104SLC4A11c.2060T>C (p.Leu687Pro)
c.1991T>C (p.Leu664Pro)
c.1931T>C (p.Leu644Pro)
c.1946T>C (p.Leu649Pro)
c.2108T>C (p.Leu703Pro)
c.2189T>C (p.Leu730Pro)
c.*208T>C (n.*208T>C)
n.653T>C
c.2429T>C (p.Leu810Pro)
c.2003T>C (p.Leu668Pro)
c.2027T>C (p.Leu676Pro)
n.2158T>C
c.2423T>C (p.Leu808Pro)
n.2603T>C
n.2583T>C
c.2075T>C (p.Leu692Pro)
n.2568T>C
20g.3228970A>TCA408087105SLC4A11c.2060T>A (p.Leu687His)
c.1991T>A (p.Leu664His)
c.1931T>A (p.Leu644His)
c.1946T>A (p.Leu649His)
c.2108T>A (p.Leu703His)
c.2189T>A (p.Leu730His)
c.*208T>A (n.*208T>A)
n.653T>A
c.2429T>A (p.Leu810His)
c.2003T>A (p.Leu668His)
c.2027T>A (p.Leu676His)
n.2158T>A
c.2423T>A (p.Leu808His)
n.2603T>A
n.2583T>A
c.2075T>A (p.Leu692His)
n.2568T>A
20g.3228971G>ACA408087106SLC4A11c.2059C>T (p.Leu687Phe)
c.1990C>T (p.Leu664Phe)
c.1930C>T (p.Leu644Phe)
c.1945C>T (p.Leu649Phe)
c.2107C>T (p.Leu703Phe)
c.2188C>T (p.Leu730Phe)
c.*207C>T (n.*207C>T)
n.652C>T
c.2428C>T (p.Leu810Phe)
c.2002C>T (p.Leu668Phe)
c.2026C>T (p.Leu676Phe)
n.2157C>T
c.2422C>T (p.Leu808Phe)
n.2602C>T
n.2582C>T
c.2074C>T (p.Leu692Phe)
n.2567C>T
 gnomAD v4
20g.3228971G>CCA408087107SLC4A11c.2059C>G (p.Leu687Val)
c.1990C>G (p.Leu664Val)
c.1930C>G (p.Leu644Val)
c.1945C>G (p.Leu649Val)
c.2107C>G (p.Leu703Val)
c.2188C>G (p.Leu730Val)
c.*207C>G (n.*207C>G)
n.652C>G
c.2428C>G (p.Leu810Val)
c.2002C>G (p.Leu668Val)
c.2026C>G (p.Leu676Val)
n.2157C>G
c.2422C>G (p.Leu808Val)
n.2602C>G
n.2582C>G
c.2074C>G (p.Leu692Val)
n.2567C>G
20g.3228971G>TCA408087108SLC4A11c.2059C>A (p.Leu687Ile)
c.1990C>A (p.Leu664Ile)
c.1930C>A (p.Leu644Ile)
c.1945C>A (p.Leu649Ile)
c.2107C>A (p.Leu703Ile)
c.2188C>A (p.Leu730Ile)
c.*207C>A (n.*207C>A)
n.652C>A
c.2428C>A (p.Leu810Ile)
c.2002C>A (p.Leu668Ile)
c.2026C>A (p.Leu676Ile)
n.2157C>A
c.2422C>A (p.Leu808Ile)
n.2602C>A
n.2582C>A
c.2074C>A (p.Leu692Ile)
n.2567C>A
20g.3228972G>ACA310985959SLC4A11c.2058C>T (p.Leu686=)
c.1989C>T (p.Leu663=)
c.1929C>T (p.Leu643=)
c.1944C>T (p.Leu648=)
c.2106C>T (p.Leu702=)
c.2187C>T (p.Leu729=)
c.*206C>T (n.*206C>T)
n.651C>T
c.2427C>T (p.Leu809=)
c.2001C>T (p.Leu667=)
c.2025C>T (p.Leu675=)
n.2156C>T
c.2421C>T (p.Leu807=)
n.2601C>T
n.2581C>T
c.2073C>T (p.Leu691=)
n.2566C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228972G>CCA9741597SLC4A11c.2058C>G (p.Leu686=)
c.1989C>G (p.Leu663=)
c.1929C>G (p.Leu643=)
c.1944C>G (p.Leu648=)
c.2106C>G (p.Leu702=)
c.2187C>G (p.Leu729=)
c.*206C>G (n.*206C>G)
n.651C>G
c.2427C>G (p.Leu809=)
c.2001C>G (p.Leu667=)
c.2025C>G (p.Leu675=)
n.2156C>G
c.2421C>G (p.Leu807=)
n.2601C>G
n.2581C>G
c.2073C>G (p.Leu691=)
n.2566C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228972G=CA2346475262SLC4A11c.2058C= (p.Leu686=)
c.1989C= (p.Leu663=)
c.1929C= (p.Leu643=)
c.1944C= (p.Leu648=)
c.2106C= (p.Leu702=)
c.2187C= (p.Leu729=)
c.*206C= (n.*206C=)
n.651C=
c.2427C= (p.Leu809=)
c.2001C= (p.Leu667=)
c.2025C= (p.Leu675=)
n.2156C=
c.2421C= (p.Leu807=)
n.2601C=
n.2581C=
c.2073C= (p.Leu691=)
n.2566C=
20g.3228972G>TCA509558216SLC4A11c.2058C>A (p.Leu686=)
c.1989C>A (p.Leu663=)
c.1929C>A (p.Leu643=)
c.1944C>A (p.Leu648=)
c.2106C>A (p.Leu702=)
c.2187C>A (p.Leu729=)
c.*206C>A (n.*206C>A)
n.651C>A
c.2427C>A (p.Leu809=)
c.2001C>A (p.Leu667=)
c.2025C>A (p.Leu675=)
n.2156C>A
c.2421C>A (p.Leu807=)
n.2601C>A
n.2581C>A
c.2073C>A (p.Leu691=)
n.2566C>A
20g.3228973A>CCA408087109SLC4A11c.2057T>G (p.Leu686Arg)
c.1988T>G (p.Leu663Arg)
c.1928T>G (p.Leu643Arg)
c.1943T>G (p.Leu648Arg)
c.2105T>G (p.Leu702Arg)
c.2186T>G (p.Leu729Arg)
c.*205T>G (n.*205T>G)
n.650T>G
c.2426T>G (p.Leu809Arg)
c.2000T>G (p.Leu667Arg)
c.2024T>G (p.Leu675Arg)
n.2155T>G
c.2420T>G (p.Leu807Arg)
n.2600T>G
n.2580T>G
c.2072T>G (p.Leu691Arg)
n.2565T>G
20g.3228973A>GCA408087110SLC4A11c.2057T>C (p.Leu686Pro)
c.1988T>C (p.Leu663Pro)
c.1928T>C (p.Leu643Pro)
c.1943T>C (p.Leu648Pro)
c.2105T>C (p.Leu702Pro)
c.2186T>C (p.Leu729Pro)
c.*205T>C (n.*205T>C)
n.650T>C
c.2426T>C (p.Leu809Pro)
c.2000T>C (p.Leu667Pro)
c.2024T>C (p.Leu675Pro)
n.2155T>C
c.2420T>C (p.Leu807Pro)
n.2600T>C
n.2580T>C
c.2072T>C (p.Leu691Pro)
n.2565T>C
20g.3228973A>TCA408087111SLC4A11c.2057T>A (p.Leu686His)
c.1988T>A (p.Leu663His)
c.1928T>A (p.Leu643His)
c.1943T>A (p.Leu648His)
c.2105T>A (p.Leu702His)
c.2186T>A (p.Leu729His)
c.*205T>A (n.*205T>A)
n.650T>A
c.2426T>A (p.Leu809His)
c.2000T>A (p.Leu667His)
c.2024T>A (p.Leu675His)
n.2155T>A
c.2420T>A (p.Leu807His)
n.2600T>A
n.2580T>A
c.2072T>A (p.Leu691His)
n.2565T>A
20g.3228974G>ACA408087114SLC4A11c.2056C>T (p.Leu686Phe)
c.1987C>T (p.Leu663Phe)
c.1927C>T (p.Leu643Phe)
c.1942C>T (p.Leu648Phe)
c.2104C>T (p.Leu702Phe)
c.2185C>T (p.Leu729Phe)
c.*204C>T (n.*204C>T)
n.649C>T
c.2425C>T (p.Leu809Phe)
c.1999C>T (p.Leu667Phe)
c.2023C>T (p.Leu675Phe)
n.2154C>T
c.2419C>T (p.Leu807Phe)
n.2599C>T
n.2579C>T
c.2071C>T (p.Leu691Phe)
n.2564C>T
 gnomAD v4
20g.3228974G>CCA408087113SLC4A11c.2056C>G (p.Leu686Val)
c.1987C>G (p.Leu663Val)
c.1927C>G (p.Leu643Val)
c.1942C>G (p.Leu648Val)
c.2104C>G (p.Leu702Val)
c.2185C>G (p.Leu729Val)
c.*204C>G (n.*204C>G)
n.649C>G
c.2425C>G (p.Leu809Val)
c.1999C>G (p.Leu667Val)
c.2023C>G (p.Leu675Val)
n.2154C>G
c.2419C>G (p.Leu807Val)
n.2599C>G
n.2579C>G
c.2071C>G (p.Leu691Val)
n.2564C>G
20g.3228974G>TCA408087112SLC4A11c.2056C>A (p.Leu686Ile)
c.1987C>A (p.Leu663Ile)
c.1927C>A (p.Leu643Ile)
c.1942C>A (p.Leu648Ile)
c.2104C>A (p.Leu702Ile)
c.2185C>A (p.Leu729Ile)
c.*204C>A (n.*204C>A)
n.649C>A
c.2425C>A (p.Leu809Ile)
c.1999C>A (p.Leu667Ile)
c.2023C>A (p.Leu675Ile)
n.2154C>A
c.2419C>A (p.Leu807Ile)
n.2599C>A
n.2579C>A
c.2071C>A (p.Leu691Ile)
n.2564C>A
20g.3228975C>ACA509558217SLC4A11c.2055G>T (p.Leu685=)
c.1986G>T (p.Leu662=)
c.1926G>T (p.Leu642=)
c.1941G>T (p.Leu647=)
c.2103G>T (p.Leu701=)
c.2184G>T (p.Leu728=)
c.*203G>T (n.*203G>T)
n.648G>T
c.2424G>T (p.Leu808=)
c.1998G>T (p.Leu666=)
c.2022G>T (p.Leu674=)
n.2153G>T
c.2418G>T (p.Leu806=)
n.2598G>T
n.2578G>T
c.2070G>T (p.Leu690=)
n.2563G>T
20g.3228975C=CA2346475263SLC4A11c.2055G= (p.Leu685=)
c.1986G= (p.Leu662=)
c.1926G= (p.Leu642=)
c.1941G= (p.Leu647=)
c.2103G= (p.Leu701=)
c.2184G= (p.Leu728=)
c.*203G= (n.*203G=)
n.648G=
c.2424G= (p.Leu808=)
c.1998G= (p.Leu666=)
c.2022G= (p.Leu674=)
n.2153G=
c.2418G= (p.Leu806=)
n.2598G=
n.2578G=
c.2070G= (p.Leu690=)
n.2563G=
20g.3228975C>GCA509558218SLC4A11c.2055G>C (p.Leu685=)
c.1986G>C (p.Leu662=)
c.1926G>C (p.Leu642=)
c.1941G>C (p.Leu647=)
c.2103G>C (p.Leu701=)
c.2184G>C (p.Leu728=)
c.*203G>C (n.*203G>C)
n.648G>C
c.2424G>C (p.Leu808=)
c.1998G>C (p.Leu666=)
c.2022G>C (p.Leu674=)
n.2153G>C
c.2418G>C (p.Leu806=)
n.2598G>C
n.2578G>C
c.2070G>C (p.Leu690=)
n.2563G>C
 dbSNP
20g.3228975C>TCA509558219SLC4A11c.2055G>A (p.Leu685=)
c.1986G>A (p.Leu662=)
c.1926G>A (p.Leu642=)
c.1941G>A (p.Leu647=)
c.2103G>A (p.Leu701=)
c.2184G>A (p.Leu728=)
c.*203G>A (n.*203G>A)
n.648G>A
c.2424G>A (p.Leu808=)
c.1998G>A (p.Leu666=)
c.2022G>A (p.Leu674=)
n.2153G>A
c.2418G>A (p.Leu806=)
n.2598G>A
n.2578G>A
c.2070G>A (p.Leu690=)
n.2563G>A
20g.3228976A>CCA408087115SLC4A11c.2054T>G (p.Leu685Arg)
c.1985T>G (p.Leu662Arg)
c.1925T>G (p.Leu642Arg)
c.1940T>G (p.Leu647Arg)
c.2102T>G (p.Leu701Arg)
c.2183T>G (p.Leu728Arg)
c.*202T>G (n.*202T>G)
n.647T>G
c.2423T>G (p.Leu808Arg)
c.1997T>G (p.Leu666Arg)
c.2021T>G (p.Leu674Arg)
n.2152T>G
c.2417T>G (p.Leu806Arg)
n.2597T>G
n.2577T>G
c.2069T>G (p.Leu690Arg)
n.2562T>G
 gnomAD v4
20g.3228976A>GCA408087116SLC4A11c.2054T>C (p.Leu685Pro)
c.1985T>C (p.Leu662Pro)
c.1925T>C (p.Leu642Pro)
c.1940T>C (p.Leu647Pro)
c.2102T>C (p.Leu701Pro)
c.2183T>C (p.Leu728Pro)
c.*202T>C (n.*202T>C)
n.647T>C
c.2423T>C (p.Leu808Pro)
c.1997T>C (p.Leu666Pro)
c.2021T>C (p.Leu674Pro)
n.2152T>C
c.2417T>C (p.Leu806Pro)
n.2597T>C
n.2577T>C
c.2069T>C (p.Leu690Pro)
n.2562T>C
20g.3228976A>TCA408087117SLC4A11c.2054T>A (p.Leu685Gln)
c.1985T>A (p.Leu662Gln)
c.1925T>A (p.Leu642Gln)
c.1940T>A (p.Leu647Gln)
c.2102T>A (p.Leu701Gln)
c.2183T>A (p.Leu728Gln)
c.*202T>A (n.*202T>A)
n.647T>A
c.2423T>A (p.Leu808Gln)
c.1997T>A (p.Leu666Gln)
c.2021T>A (p.Leu674Gln)
n.2152T>A
c.2417T>A (p.Leu806Gln)
n.2597T>A
n.2577T>A
c.2069T>A (p.Leu690Gln)
n.2562T>A
20g.3228977G>ACA9741598SLC4A11c.2053C>T (p.Leu685=)
c.1984C>T (p.Leu662=)
c.1924C>T (p.Leu642=)
c.1939C>T (p.Leu647=)
c.2101C>T (p.Leu701=)
c.2182C>T (p.Leu728=)
c.*201C>T (n.*201C>T)
n.646C>T
c.2422C>T (p.Leu808=)
c.1996C>T (p.Leu666=)
c.2020C>T (p.Leu674=)
n.2151C>T
c.2416C>T (p.Leu806=)
n.2596C>T
n.2576C>T
c.2068C>T (p.Leu690=)
n.2561C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228977G>CCA408087118SLC4A11c.2053C>G (p.Leu685Val)
c.1984C>G (p.Leu662Val)
c.1924C>G (p.Leu642Val)
c.1939C>G (p.Leu647Val)
c.2101C>G (p.Leu701Val)
c.2182C>G (p.Leu728Val)
c.*201C>G (n.*201C>G)
n.646C>G
c.2422C>G (p.Leu808Val)
c.1996C>G (p.Leu666Val)
c.2020C>G (p.Leu674Val)
n.2151C>G
c.2416C>G (p.Leu806Val)
n.2596C>G
n.2576C>G
c.2068C>G (p.Leu690Val)
n.2561C>G
 dbSNP gnomAD v4
20g.3228977G=CA2346475264SLC4A11c.2053C= (p.Leu685=)
c.1984C= (p.Leu662=)
c.1924C= (p.Leu642=)
c.1939C= (p.Leu647=)
c.2101C= (p.Leu701=)
c.2182C= (p.Leu728=)
c.*201C= (n.*201C=)
n.646C=
c.2422C= (p.Leu808=)
c.1996C= (p.Leu666=)
c.2020C= (p.Leu674=)
n.2151C=
c.2416C= (p.Leu806=)
n.2596C=
n.2576C=
c.2068C= (p.Leu690=)
n.2561C=
20g.3228977G>TCA408087119SLC4A11c.2053C>A (p.Leu685Met)
c.1984C>A (p.Leu662Met)
c.1924C>A (p.Leu642Met)
c.1939C>A (p.Leu647Met)
c.2101C>A (p.Leu701Met)
c.2182C>A (p.Leu728Met)
c.*201C>A (n.*201C>A)
n.646C>A
c.2422C>A (p.Leu808Met)
c.1996C>A (p.Leu666Met)
c.2020C>A (p.Leu674Met)
n.2151C>A
c.2416C>A (p.Leu806Met)
n.2596C>A
n.2576C>A
c.2068C>A (p.Leu690Met)
n.2561C>A
20g.3228978G>ACA509558226SLC4A11c.2052C>T (p.Leu684=)
c.1983C>T (p.Leu661=)
c.1923C>T (p.Leu641=)
c.1938C>T (p.Leu646=)
c.2100C>T (p.Leu700=)
c.2181C>T (p.Leu727=)
c.*200C>T (n.*200C>T)
n.645C>T
c.2421C>T (p.Leu807=)
c.1995C>T (p.Leu665=)
c.2019C>T (p.Leu673=)
n.2150C>T
c.2415C>T (p.Leu805=)
n.2595C>T
n.2575C>T
c.2067C>T (p.Leu689=)
n.2560C>T
 gnomAD v4
20g.3228978G>CCA509558227SLC4A11c.2052C>G (p.Leu684=)
c.1983C>G (p.Leu661=)
c.1923C>G (p.Leu641=)
c.1938C>G (p.Leu646=)
c.2100C>G (p.Leu700=)
c.2181C>G (p.Leu727=)
c.*200C>G (n.*200C>G)
n.645C>G
c.2421C>G (p.Leu807=)
c.1995C>G (p.Leu665=)
c.2019C>G (p.Leu673=)
n.2150C>G
c.2415C>G (p.Leu805=)
n.2595C>G
n.2575C>G
c.2067C>G (p.Leu689=)
n.2560C>G
20g.3228978G>TCA509558228SLC4A11c.2052C>A (p.Leu684=)
c.1983C>A (p.Leu661=)
c.1923C>A (p.Leu641=)
c.1938C>A (p.Leu646=)
c.2100C>A (p.Leu700=)
c.2181C>A (p.Leu727=)
c.*200C>A (n.*200C>A)
n.645C>A
c.2421C>A (p.Leu807=)
c.1995C>A (p.Leu665=)
c.2019C>A (p.Leu673=)
n.2150C>A
c.2415C>A (p.Leu805=)
n.2595C>A
n.2575C>A
c.2067C>A (p.Leu689=)
n.2560C>A
 gnomAD v4
20g.3228979A>CCA408087120SLC4A11c.2051T>G (p.Leu684Arg)
c.1982T>G (p.Leu661Arg)
c.1922T>G (p.Leu641Arg)
c.1937T>G (p.Leu646Arg)
c.2099T>G (p.Leu700Arg)
c.2180T>G (p.Leu727Arg)
c.*199T>G (n.*199T>G)
n.644T>G
c.2420T>G (p.Leu807Arg)
c.1994T>G (p.Leu665Arg)
c.2018T>G (p.Leu673Arg)
n.2149T>G
c.2414T>G (p.Leu805Arg)
n.2594T>G
n.2574T>G
c.2066T>G (p.Leu689Arg)
n.2559T>G
20g.3228979A>GCA408087121SLC4A11c.2051T>C (p.Leu684Pro)
c.1982T>C (p.Leu661Pro)
c.1922T>C (p.Leu641Pro)
c.1937T>C (p.Leu646Pro)
c.2099T>C (p.Leu700Pro)
c.2180T>C (p.Leu727Pro)
c.*199T>C (n.*199T>C)
n.644T>C
c.2420T>C (p.Leu807Pro)
c.1994T>C (p.Leu665Pro)
c.2018T>C (p.Leu673Pro)
n.2149T>C
c.2414T>C (p.Leu805Pro)
n.2594T>C
n.2574T>C
c.2066T>C (p.Leu689Pro)
n.2559T>C
20g.3228979A>TCA408087122SLC4A11c.2051T>A (p.Leu684His)
c.1982T>A (p.Leu661His)
c.1922T>A (p.Leu641His)
c.1937T>A (p.Leu646His)
c.2099T>A (p.Leu700His)
c.2180T>A (p.Leu727His)
c.*199T>A (n.*199T>A)
n.644T>A
c.2420T>A (p.Leu807His)
c.1994T>A (p.Leu665His)
c.2018T>A (p.Leu673His)
n.2149T>A
c.2414T>A (p.Leu805His)
n.2594T>A
n.2574T>A
c.2066T>A (p.Leu689His)
n.2559T>A
20g.3228980G>ACA408087123SLC4A11c.2050C>T (p.Leu684Phe)
c.1981C>T (p.Leu661Phe)
c.1921C>T (p.Leu641Phe)
c.1936C>T (p.Leu646Phe)
c.2098C>T (p.Leu700Phe)
c.2179C>T (p.Leu727Phe)
c.*198C>T (n.*198C>T)
n.643C>T
c.2419C>T (p.Leu807Phe)
c.1993C>T (p.Leu665Phe)
c.2017C>T (p.Leu673Phe)
n.2148C>T
c.2413C>T (p.Leu805Phe)
n.2593C>T
n.2573C>T
c.2065C>T (p.Leu689Phe)
n.2558C>T
20g.3228980G>CCA9741599SLC4A11c.2050C>G (p.Leu684Val)
c.1981C>G (p.Leu661Val)
c.1921C>G (p.Leu641Val)
c.1936C>G (p.Leu646Val)
c.2098C>G (p.Leu700Val)
c.2179C>G (p.Leu727Val)
c.*198C>G (n.*198C>G)
n.643C>G
c.2419C>G (p.Leu807Val)
c.1993C>G (p.Leu665Val)
c.2017C>G (p.Leu673Val)
n.2148C>G
c.2413C>G (p.Leu805Val)
n.2593C>G
n.2573C>G
c.2065C>G (p.Leu689Val)
n.2558C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228980G=CA2346475265SLC4A11c.2050C= (p.Leu684=)
c.1981C= (p.Leu661=)
c.1921C= (p.Leu641=)
c.1936C= (p.Leu646=)
c.2098C= (p.Leu700=)
c.2179C= (p.Leu727=)
c.*198C= (n.*198C=)
n.643C=
c.2419C= (p.Leu807=)
c.1993C= (p.Leu665=)
c.2017C= (p.Leu673=)
n.2148C=
c.2413C= (p.Leu805=)
n.2593C=
n.2573C=
c.2065C= (p.Leu689=)
n.2558C=
20g.3228980G>TCA408087124SLC4A11c.2050C>A (p.Leu684Ile)
c.1981C>A (p.Leu661Ile)
c.1921C>A (p.Leu641Ile)
c.1936C>A (p.Leu646Ile)
c.2098C>A (p.Leu700Ile)
c.2179C>A (p.Leu727Ile)
c.*198C>A (n.*198C>A)
n.643C>A
c.2419C>A (p.Leu807Ile)
c.1993C>A (p.Leu665Ile)
c.2017C>A (p.Leu673Ile)
n.2148C>A
c.2413C>A (p.Leu805Ile)
n.2593C>A
n.2573C>A
c.2065C>A (p.Leu689Ile)
n.2558C>A
20g.3228980_3228982delCA2651691263SLC4A11c.2048_2050del (p.Asp683_Leu684delinsVal)
c.1979_1981del (p.Asp660_Leu661delinsVal)
c.1919_1921del (p.Asp640_Leu641delinsVal)
c.1934_1936del (p.Asp645_Leu646delinsVal)
c.2096_2098del (p.Asp699_Leu700delinsVal)
c.2177_2179del (p.Asp726_Leu727delinsVal)
c.*196_*198del (n.*196_*198del)
n.641_643del
c.2417_2419del (p.Asp806_Leu807delinsVal)
c.1991_1993del (p.Asp664_Leu665delinsVal)
c.2015_2017del (p.Asp672_Leu673delinsVal)
n.2146_2148del
c.2411_2413del (p.Asp804_Leu805delinsVal)
n.2591_2593del
n.2571_2573del
c.2063_2065del (p.Asp688_Leu689delinsVal)
n.2556_2558del
 gnomAD v4
20g.3228981G>ACA509558231SLC4A11c.2049C>T (p.Asp683=)
c.1980C>T (p.Asp660=)
c.1920C>T (p.Asp640=)
c.1935C>T (p.Asp645=)
c.2097C>T (p.Asp699=)
c.2178C>T (p.Asp726=)
c.*197C>T (n.*197C>T)
n.642C>T
c.2418C>T (p.Asp806=)
c.1992C>T (p.Asp664=)
c.2016C>T (p.Asp672=)
n.2147C>T
c.2412C>T (p.Asp804=)
n.2592C>T
n.2572C>T
c.2064C>T (p.Asp688=)
n.2557C>T
 gnomAD v4
20g.3228981G>CCA408087126SLC4A11c.2049C>G (p.Asp683Glu)
c.1980C>G (p.Asp660Glu)
c.1920C>G (p.Asp640Glu)
c.1935C>G (p.Asp645Glu)
c.2097C>G (p.Asp699Glu)
c.2178C>G (p.Asp726Glu)
c.*197C>G (n.*197C>G)
n.642C>G
c.2418C>G (p.Asp806Glu)
c.1992C>G (p.Asp664Glu)
c.2016C>G (p.Asp672Glu)
n.2147C>G
c.2412C>G (p.Asp804Glu)
n.2592C>G
n.2572C>G
c.2064C>G (p.Asp688Glu)
n.2557C>G
20g.3228981G>TCA408087125SLC4A11c.2049C>A (p.Asp683Glu)
c.1980C>A (p.Asp660Glu)
c.1920C>A (p.Asp640Glu)
c.1935C>A (p.Asp645Glu)
c.2097C>A (p.Asp699Glu)
c.2178C>A (p.Asp726Glu)
c.*197C>A (n.*197C>A)
n.642C>A
c.2418C>A (p.Asp806Glu)
c.1992C>A (p.Asp664Glu)
c.2016C>A (p.Asp672Glu)
n.2147C>A
c.2412C>A (p.Asp804Glu)
n.2592C>A
n.2572C>A
c.2064C>A (p.Asp688Glu)
n.2557C>A
20g.3228982T>ACA408087127SLC4A11c.2048A>T (p.Asp683Val)
c.1979A>T (p.Asp660Val)
c.1919A>T (p.Asp640Val)
c.1934A>T (p.Asp645Val)
c.2096A>T (p.Asp699Val)
c.2177A>T (p.Asp726Val)
c.*196A>T (n.*196A>T)
n.641A>T
c.2417A>T (p.Asp806Val)
c.1991A>T (p.Asp664Val)
c.2015A>T (p.Asp672Val)
n.2146A>T
c.2411A>T (p.Asp804Val)
n.2591A>T
n.2571A>T
c.2063A>T (p.Asp688Val)
n.2556A>T
20g.3228982T>CCA408087129SLC4A11c.2048A>G (p.Asp683Gly)
c.1979A>G (p.Asp660Gly)
c.1919A>G (p.Asp640Gly)
c.1934A>G (p.Asp645Gly)
c.2096A>G (p.Asp699Gly)
c.2177A>G (p.Asp726Gly)
c.*196A>G (n.*196A>G)
n.641A>G
c.2417A>G (p.Asp806Gly)
c.1991A>G (p.Asp664Gly)
c.2015A>G (p.Asp672Gly)
n.2146A>G
c.2411A>G (p.Asp804Gly)
n.2591A>G
n.2571A>G
c.2063A>G (p.Asp688Gly)
n.2556A>G
20g.3228982T>GCA408087128SLC4A11c.2048A>C (p.Asp683Ala)
c.1979A>C (p.Asp660Ala)
c.1919A>C (p.Asp640Ala)
c.1934A>C (p.Asp645Ala)
c.2096A>C (p.Asp699Ala)
c.2177A>C (p.Asp726Ala)
c.*196A>C (n.*196A>C)
n.641A>C
c.2417A>C (p.Asp806Ala)
c.1991A>C (p.Asp664Ala)
c.2015A>C (p.Asp672Ala)
n.2146A>C
c.2411A>C (p.Asp804Ala)
n.2591A>C
n.2571A>C
c.2063A>C (p.Asp688Ala)
n.2556A>C
 gnomAD v4
20g.3228983C>ACA408087130SLC4A11c.2047G>T (p.Asp683Tyr)
c.1978G>T (p.Asp660Tyr)
c.1918G>T (p.Asp640Tyr)
c.1933G>T (p.Asp645Tyr)
c.2095G>T (p.Asp699Tyr)
c.2176G>T (p.Asp726Tyr)
c.*195G>T (n.*195G>T)
n.640G>T
c.2416G>T (p.Asp806Tyr)
c.1990G>T (p.Asp664Tyr)
c.2014G>T (p.Asp672Tyr)
n.2145G>T
c.2410G>T (p.Asp804Tyr)
n.2590G>T
n.2570G>T
c.2062G>T (p.Asp688Tyr)
n.2555G>T
20g.3228983C>GCA408087131SLC4A11c.2047G>C (p.Asp683His)
c.1978G>C (p.Asp660His)
c.1918G>C (p.Asp640His)
c.1933G>C (p.Asp645His)
c.2095G>C (p.Asp699His)
c.2176G>C (p.Asp726His)
c.*195G>C (n.*195G>C)
n.640G>C
c.2416G>C (p.Asp806His)
c.1990G>C (p.Asp664His)
c.2014G>C (p.Asp672His)
n.2145G>C
c.2410G>C (p.Asp804His)
n.2590G>C
n.2570G>C
c.2062G>C (p.Asp688His)
n.2555G>C
20g.3228983C>TCA408087132SLC4A11c.2047G>A (p.Asp683Asn)
c.1978G>A (p.Asp660Asn)
c.1918G>A (p.Asp640Asn)
c.1933G>A (p.Asp645Asn)
c.2095G>A (p.Asp699Asn)
c.2176G>A (p.Asp726Asn)
c.*195G>A (n.*195G>A)
n.640G>A
c.2416G>A (p.Asp806Asn)
c.1990G>A (p.Asp664Asn)
c.2014G>A (p.Asp672Asn)
n.2145G>A
c.2410G>A (p.Asp804Asn)
n.2590G>A
n.2570G>A
c.2062G>A (p.Asp688Asn)
n.2555G>A
20g.3228985dupCA2739277021SLC4A11c.2047dup (p.Asp683GlyfsTer?)
c.1978dup (p.Asp660GlyfsTer?)
c.1918dup (p.Asp640GlyfsTer?)
c.1933dup (p.Asp645GlyfsTer?)
c.2095dup (p.Asp699GlyfsTer?)
c.2176dup (p.Asp726GlyfsTer?)
c.*195dup (n.*195dup)
n.640dup
c.2416dup (p.Asp806GlyfsTer?)
c.1990dup (p.Asp664GlyfsTer?)
c.2014dup (p.Asp672GlyfsTer?)
n.2145dup
c.2410dup (p.Asp804GlyfsTer?)
n.2590dup
n.2570dup
c.2062dup (p.Asp688GlyfsTer?)
n.2555dup
 ClinVar
20g.3228984C>ACA408087133SLC4A11c.2046G>T (p.Trp682Cys)
c.1977G>T (p.Trp659Cys)
c.1917G>T (p.Trp639Cys)
c.1932G>T (p.Trp644Cys)
c.2094G>T (p.Trp698Cys)
c.2175G>T (p.Trp725Cys)
c.*194G>T (n.*194G>T)
n.639G>T
c.2415G>T (p.Trp805Cys)
c.1989G>T (p.Trp663Cys)
c.2013G>T (p.Trp671Cys)
n.2144G>T
c.2409G>T (p.Trp803Cys)
n.2589G>T
n.2569G>T
c.2061G>T (p.Trp687Cys)
n.2554G>T
20g.3228984C>GCA408087134SLC4A11c.2046G>C (p.Trp682Cys)
c.1977G>C (p.Trp659Cys)
c.1917G>C (p.Trp639Cys)
c.1932G>C (p.Trp644Cys)
c.2094G>C (p.Trp698Cys)
c.2175G>C (p.Trp725Cys)
c.*194G>C (n.*194G>C)
n.639G>C
c.2415G>C (p.Trp805Cys)
c.1989G>C (p.Trp663Cys)
c.2013G>C (p.Trp671Cys)
n.2144G>C
c.2409G>C (p.Trp803Cys)
n.2589G>C
n.2569G>C
c.2061G>C (p.Trp687Cys)
n.2554G>C
20g.3228984C>TCA408087135SLC4A11c.2046G>A (p.Trp682Ter)
c.1977G>A (p.Trp659Ter)
c.1917G>A (p.Trp639Ter)
c.1932G>A (p.Trp644Ter)
c.2094G>A (p.Trp698Ter)
c.2175G>A (p.Trp725Ter)
c.*194G>A (n.*194G>A)
n.639G>A
c.2415G>A (p.Trp805Ter)
c.1989G>A (p.Trp663Ter)
c.2013G>A (p.Trp671Ter)
n.2144G>A
c.2409G>A (p.Trp803Ter)
n.2589G>A
n.2569G>A
c.2061G>A (p.Trp687Ter)
n.2554G>A
20g.3228984_3228986delCA2651691264SLC4A11c.2044_2046del (p.Trp682del)
c.1975_1977del (p.Trp659del)
c.1915_1917del (p.Trp639del)
c.1930_1932del (p.Trp644del)
c.2092_2094del (p.Trp698del)
c.2173_2175del (p.Trp725del)
c.*192_*194del (n.*192_*194del)
n.637_639del
c.2413_2415del (p.Trp805del)
c.1987_1989del (p.Trp663del)
c.2011_2013del (p.Trp671del)
n.2142_2144del
c.2407_2409del (p.Trp803del)
n.2587_2589del
n.2567_2569del
c.2059_2061del (p.Trp687del)
n.2552_2554del
 gnomAD v4
20g.3228985C>ACA408087136SLC4A11c.2045G>T (p.Trp682Leu)
c.1976G>T (p.Trp659Leu)
c.1916G>T (p.Trp639Leu)
c.1931G>T (p.Trp644Leu)
c.2093G>T (p.Trp698Leu)
c.2174G>T (p.Trp725Leu)
c.*193G>T (n.*193G>T)
n.638G>T
c.2414G>T (p.Trp805Leu)
c.1988G>T (p.Trp663Leu)
c.2012G>T (p.Trp671Leu)
n.2143G>T
c.2408G>T (p.Trp803Leu)
n.2588G>T
n.2568G>T
c.2060G>T (p.Trp687Leu)
n.2553G>T
20g.3228985C>GCA408087137SLC4A11c.2045G>C (p.Trp682Ser)
c.1976G>C (p.Trp659Ser)
c.1916G>C (p.Trp639Ser)
c.1931G>C (p.Trp644Ser)
c.2093G>C (p.Trp698Ser)
c.2174G>C (p.Trp725Ser)
c.*193G>C (n.*193G>C)
n.638G>C
c.2414G>C (p.Trp805Ser)
c.1988G>C (p.Trp663Ser)
c.2012G>C (p.Trp671Ser)
n.2143G>C
c.2408G>C (p.Trp803Ser)
n.2588G>C
n.2568G>C
c.2060G>C (p.Trp687Ser)
n.2553G>C
20g.3228985C>TCA408087138SLC4A11c.2045G>A (p.Trp682Ter)
c.1976G>A (p.Trp659Ter)
c.1916G>A (p.Trp639Ter)
c.1931G>A (p.Trp644Ter)
c.2093G>A (p.Trp698Ter)
c.2174G>A (p.Trp725Ter)
c.*193G>A (n.*193G>A)
n.638G>A
c.2414G>A (p.Trp805Ter)
c.1988G>A (p.Trp663Ter)
c.2012G>A (p.Trp671Ter)
n.2143G>A
c.2408G>A (p.Trp803Ter)
n.2588G>A
n.2568G>A
c.2060G>A (p.Trp687Ter)
n.2553G>A
 ClinVar gnomAD v4
20g.3228986A>CCA408087139SLC4A11c.2044T>G (p.Trp682Gly)
c.1975T>G (p.Trp659Gly)
c.1915T>G (p.Trp639Gly)
c.1930T>G (p.Trp644Gly)
c.2092T>G (p.Trp698Gly)
c.2173T>G (p.Trp725Gly)
c.*192T>G (n.*192T>G)
n.637T>G
c.2413T>G (p.Trp805Gly)
c.1987T>G (p.Trp663Gly)
c.2011T>G (p.Trp671Gly)
n.2142T>G
c.2407T>G (p.Trp803Gly)
n.2587T>G
n.2567T>G
c.2059T>G (p.Trp687Gly)
n.2552T>G
20g.3228986A>GCA408087140SLC4A11c.2044T>C (p.Trp682Arg)
c.1975T>C (p.Trp659Arg)
c.1915T>C (p.Trp639Arg)
c.1930T>C (p.Trp644Arg)
c.2092T>C (p.Trp698Arg)
c.2173T>C (p.Trp725Arg)
c.*192T>C (n.*192T>C)
n.637T>C
c.2413T>C (p.Trp805Arg)
c.1987T>C (p.Trp663Arg)
c.2011T>C (p.Trp671Arg)
n.2142T>C
c.2407T>C (p.Trp803Arg)
n.2587T>C
n.2567T>C
c.2059T>C (p.Trp687Arg)
n.2552T>C
20g.3228986A>TCA408087141SLC4A11c.2044T>A (p.Trp682Arg)
c.1975T>A (p.Trp659Arg)
c.1915T>A (p.Trp639Arg)
c.1930T>A (p.Trp644Arg)
c.2092T>A (p.Trp698Arg)
c.2173T>A (p.Trp725Arg)
c.*192T>A (n.*192T>A)
n.637T>A
c.2413T>A (p.Trp805Arg)
c.1987T>A (p.Trp663Arg)
c.2011T>A (p.Trp671Arg)
n.2142T>A
c.2407T>A (p.Trp803Arg)
n.2587T>A
n.2567T>A
c.2059T>A (p.Trp687Arg)
n.2552T>A
20g.3228987G>ACA509558239SLC4A11c.2043C>T (p.His681=)
c.1974C>T (p.His658=)
c.1914C>T (p.His638=)
c.1929C>T (p.His643=)
c.2091C>T (p.His697=)
c.2172C>T (p.His724=)
c.*191C>T (n.*191C>T)
n.636C>T
c.2412C>T (p.His804=)
c.1986C>T (p.His662=)
c.2010C>T (p.His670=)
n.2141C>T
c.2406C>T (p.His802=)
n.2586C>T
n.2566C>T
c.2058C>T (p.His686=)
n.2551C>T
 ClinVar dbSNP gnomAD v4
20g.3228987G>CCA408087142SLC4A11c.2043C>G (p.His681Gln)
c.1974C>G (p.His658Gln)
c.1914C>G (p.His638Gln)
c.1929C>G (p.His643Gln)
c.2091C>G (p.His697Gln)
c.2172C>G (p.His724Gln)
c.*191C>G (n.*191C>G)
n.636C>G
c.2412C>G (p.His804Gln)
c.1986C>G (p.His662Gln)
c.2010C>G (p.His670Gln)
n.2141C>G
c.2406C>G (p.His802Gln)
n.2586C>G
n.2566C>G
c.2058C>G (p.His686Gln)
n.2551C>G
 gnomAD v4
20g.3228987G>TCA408087143SLC4A11c.2043C>A (p.His681Gln)
c.1974C>A (p.His658Gln)
c.1914C>A (p.His638Gln)
c.1929C>A (p.His643Gln)
c.2091C>A (p.His697Gln)
c.2172C>A (p.His724Gln)
c.*191C>A (n.*191C>A)
n.636C>A
c.2412C>A (p.His804Gln)
c.1986C>A (p.His662Gln)
c.2010C>A (p.His670Gln)
n.2141C>A
c.2406C>A (p.His802Gln)
n.2586C>A
n.2566C>A
c.2058C>A (p.His686Gln)
n.2551C>A
20g.3228988T>ACA408087144SLC4A11c.2042A>T (p.His681Leu)
c.1973A>T (p.His658Leu)
c.1913A>T (p.His638Leu)
c.1928A>T (p.His643Leu)
c.2090A>T (p.His697Leu)
c.2171A>T (p.His724Leu)
c.*190A>T (n.*190A>T)
n.635A>T
c.2411A>T (p.His804Leu)
c.1985A>T (p.His662Leu)
c.2009A>T (p.His670Leu)
n.2140A>T
c.2405A>T (p.His802Leu)
n.2585A>T
n.2565A>T
c.2057A>T (p.His686Leu)
n.2550A>T
 gnomAD v4
20g.3228988T>CCA408087145SLC4A11c.2042A>G (p.His681Arg)
c.1973A>G (p.His658Arg)
c.1913A>G (p.His638Arg)
c.1928A>G (p.His643Arg)
c.2090A>G (p.His697Arg)
c.2171A>G (p.His724Arg)
c.*190A>G (n.*190A>G)
n.635A>G
c.2411A>G (p.His804Arg)
c.1985A>G (p.His662Arg)
c.2009A>G (p.His670Arg)
n.2140A>G
c.2405A>G (p.His802Arg)
n.2585A>G
n.2565A>G
c.2057A>G (p.His686Arg)
n.2550A>G
20g.3228988T>GCA408087146SLC4A11c.2042A>C (p.His681Pro)
c.1973A>C (p.His658Pro)
c.1913A>C (p.His638Pro)
c.1928A>C (p.His643Pro)
c.2090A>C (p.His697Pro)
c.2171A>C (p.His724Pro)
c.*190A>C (n.*190A>C)
n.635A>C
c.2411A>C (p.His804Pro)
c.1985A>C (p.His662Pro)
c.2009A>C (p.His670Pro)
n.2140A>C
c.2405A>C (p.His802Pro)
n.2585A>C
n.2565A>C
c.2057A>C (p.His686Pro)
n.2550A>C
20g.3228989G>ACA9741600SLC4A11c.2041C>T (p.His681Tyr)
c.1972C>T (p.His658Tyr)
c.1912C>T (p.His638Tyr)
c.1927C>T (p.His643Tyr)
c.2089C>T (p.His697Tyr)
c.2170C>T (p.His724Tyr)
c.*189C>T (n.*189C>T)
n.634C>T
c.2410C>T (p.His804Tyr)
c.1984C>T (p.His662Tyr)
c.2008C>T (p.His670Tyr)
n.2139C>T
c.2404C>T (p.His802Tyr)
n.2584C>T
n.2564C>T
c.2056C>T (p.His686Tyr)
n.2549C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228989G>CCA408087147SLC4A11c.2041C>G (p.His681Asp)
c.1972C>G (p.His658Asp)
c.1912C>G (p.His638Asp)
c.1927C>G (p.His643Asp)
c.2089C>G (p.His697Asp)
c.2170C>G (p.His724Asp)
c.*189C>G (n.*189C>G)
n.634C>G
c.2410C>G (p.His804Asp)
c.1984C>G (p.His662Asp)
c.2008C>G (p.His670Asp)
n.2139C>G
c.2404C>G (p.His802Asp)
n.2584C>G
n.2564C>G
c.2056C>G (p.His686Asp)
n.2549C>G
20g.3228989G=CA2346475266SLC4A11c.2041C= (p.His681=)
c.1972C= (p.His658=)
c.1912C= (p.His638=)
c.1927C= (p.His643=)
c.2089C= (p.His697=)
c.2170C= (p.His724=)
c.*189C= (n.*189C=)
n.634C=
c.2410C= (p.His804=)
c.1984C= (p.His662=)
c.2008C= (p.His670=)
n.2139C=
c.2404C= (p.His802=)
n.2584C=
n.2564C=
c.2056C= (p.His686=)
n.2549C=
20g.3228989G>TCA408087148SLC4A11c.2041C>A (p.His681Asn)
c.1972C>A (p.His658Asn)
c.1912C>A (p.His638Asn)
c.1927C>A (p.His643Asn)
c.2089C>A (p.His697Asn)
c.2170C>A (p.His724Asn)
c.*189C>A (n.*189C>A)
n.634C>A
c.2410C>A (p.His804Asn)
c.1984C>A (p.His662Asn)
c.2008C>A (p.His670Asn)
n.2139C>A
c.2404C>A (p.His802Asn)
n.2584C>A
n.2564C>A
c.2056C>A (p.His686Asn)
n.2549C>A
20g.3228990G>ACA509558241SLC4A11c.2040C>T (p.Tyr680=)
c.1971C>T (p.Tyr657=)
c.1911C>T (p.Tyr637=)
c.1926C>T (p.Tyr642=)
c.2088C>T (p.Tyr696=)
c.2169C>T (p.Tyr723=)
c.*188C>T (n.*188C>T)
n.633C>T
c.2409C>T (p.Tyr803=)
c.1983C>T (p.Tyr661=)
c.2007C>T (p.Tyr669=)
n.2138C>T
c.2403C>T (p.Tyr801=)
n.2583C>T
n.2563C>T
c.2055C>T (p.Tyr685=)
n.2548C>T
20g.3228990G>CCA408087149SLC4A11c.2040C>G (p.Tyr680Ter)
c.1971C>G (p.Tyr657Ter)
c.1911C>G (p.Tyr637Ter)
c.1926C>G (p.Tyr642Ter)
c.2088C>G (p.Tyr696Ter)
c.2169C>G (p.Tyr723Ter)
c.*188C>G (n.*188C>G)
n.633C>G
c.2409C>G (p.Tyr803Ter)
c.1983C>G (p.Tyr661Ter)
c.2007C>G (p.Tyr669Ter)
n.2138C>G
c.2403C>G (p.Tyr801Ter)
n.2583C>G
n.2563C>G
c.2055C>G (p.Tyr685Ter)
n.2548C>G
20g.3228990G>TCA408087150SLC4A11c.2040C>A (p.Tyr680Ter)
c.1971C>A (p.Tyr657Ter)
c.1911C>A (p.Tyr637Ter)
c.1926C>A (p.Tyr642Ter)
c.2088C>A (p.Tyr696Ter)
c.2169C>A (p.Tyr723Ter)
c.*188C>A (n.*188C>A)
n.633C>A
c.2409C>A (p.Tyr803Ter)
c.1983C>A (p.Tyr661Ter)
c.2007C>A (p.Tyr669Ter)
n.2138C>A
c.2403C>A (p.Tyr801Ter)
n.2583C>A
n.2563C>A
c.2055C>A (p.Tyr685Ter)
n.2548C>A
20g.3228990_3229006delCA2651691265SLC4A11c.2024_2040del (p.Val675AlafsTer?)
c.1955_1971del (p.Val652AlafsTer?)
c.1895_1911del (p.Val632AlafsTer?)
c.1910_1926del (p.Val637AlafsTer?)
c.2072_2088del (p.Val691AlafsTer?)
c.2153_2169del (p.Val718AlafsTer?)
c.*172_*188del (n.*172_*188del)
n.617_633del
c.2393_2409del (p.Val798AlafsTer?)
c.1967_1983del (p.Val656AlafsTer?)
c.1991_2007del (p.Val664AlafsTer?)
n.2122_2138del
c.2387_2403del (p.Val796AlafsTer?)
n.2567_2583del
n.2547_2563del
c.2039_2055del (p.Val680AlafsTer?)
n.2532_2548del
 gnomAD v4
20g.3228991T>ACA408087151SLC4A11c.2039A>T (p.Tyr680Phe)
c.1970A>T (p.Tyr657Phe)
c.1910A>T (p.Tyr637Phe)
c.1925A>T (p.Tyr642Phe)
c.2087A>T (p.Tyr696Phe)
c.2168A>T (p.Tyr723Phe)
c.*187A>T (n.*187A>T)
n.632A>T
c.2408A>T (p.Tyr803Phe)
c.1982A>T (p.Tyr661Phe)
c.2006A>T (p.Tyr669Phe)
n.2137A>T
c.2402A>T (p.Tyr801Phe)
n.2582A>T
n.2562A>T
c.2054A>T (p.Tyr685Phe)
n.2547A>T
20g.3228991T>CCA408087152SLC4A11c.2039A>G (p.Tyr680Cys)
c.1970A>G (p.Tyr657Cys)
c.1910A>G (p.Tyr637Cys)
c.1925A>G (p.Tyr642Cys)
c.2087A>G (p.Tyr696Cys)
c.2168A>G (p.Tyr723Cys)
c.*187A>G (n.*187A>G)
n.632A>G
c.2408A>G (p.Tyr803Cys)
c.1982A>G (p.Tyr661Cys)
c.2006A>G (p.Tyr669Cys)
n.2137A>G
c.2402A>G (p.Tyr801Cys)
n.2582A>G
n.2562A>G
c.2054A>G (p.Tyr685Cys)
n.2547A>G
20g.3228991T>GCA408087153SLC4A11c.2039A>C (p.Tyr680Ser)
c.1970A>C (p.Tyr657Ser)
c.1910A>C (p.Tyr637Ser)
c.1925A>C (p.Tyr642Ser)
c.2087A>C (p.Tyr696Ser)
c.2168A>C (p.Tyr723Ser)
c.*187A>C (n.*187A>C)
n.632A>C
c.2408A>C (p.Tyr803Ser)
c.1982A>C (p.Tyr661Ser)
c.2006A>C (p.Tyr669Ser)
n.2137A>C
c.2402A>C (p.Tyr801Ser)
n.2582A>C
n.2562A>C
c.2054A>C (p.Tyr685Ser)
n.2547A>C
20g.3228992A>CCA408087155SLC4A11c.2038T>G (p.Tyr680Asp)
c.1969T>G (p.Tyr657Asp)
c.1909T>G (p.Tyr637Asp)
c.1924T>G (p.Tyr642Asp)
c.2086T>G (p.Tyr696Asp)
c.2167T>G (p.Tyr723Asp)
c.*186T>G (n.*186T>G)
n.631T>G
c.2407T>G (p.Tyr803Asp)
c.1981T>G (p.Tyr661Asp)
c.2005T>G (p.Tyr669Asp)
n.2136T>G
c.2401T>G (p.Tyr801Asp)
n.2581T>G
n.2561T>G
c.2053T>G (p.Tyr685Asp)
n.2546T>G
20g.3228992A>GCA408087156SLC4A11c.2038T>C (p.Tyr680His)
c.1969T>C (p.Tyr657His)
c.1909T>C (p.Tyr637His)
c.1924T>C (p.Tyr642His)
c.2086T>C (p.Tyr696His)
c.2167T>C (p.Tyr723His)
c.*186T>C (n.*186T>C)
n.631T>C
c.2407T>C (p.Tyr803His)
c.1981T>C (p.Tyr661His)
c.2005T>C (p.Tyr669His)
n.2136T>C
c.2401T>C (p.Tyr801His)
n.2581T>C
n.2561T>C
c.2053T>C (p.Tyr685His)
n.2546T>C
 gnomAD v4
20g.3228992A>TCA408087154SLC4A11c.2038T>A (p.Tyr680Asn)
c.1969T>A (p.Tyr657Asn)
c.1909T>A (p.Tyr637Asn)
c.1924T>A (p.Tyr642Asn)
c.2086T>A (p.Tyr696Asn)
c.2167T>A (p.Tyr723Asn)
c.*186T>A (n.*186T>A)
n.631T>A
c.2407T>A (p.Tyr803Asn)
c.1981T>A (p.Tyr661Asn)
c.2005T>A (p.Tyr669Asn)
n.2136T>A
c.2401T>A (p.Tyr801Asn)
n.2581T>A
n.2561T>A
c.2053T>A (p.Tyr685Asn)
n.2546T>A
20g.3228993G>ACA509558242SLC4A11c.2037C>T (p.Ala679=)
c.1968C>T (p.Ala656=)
c.1908C>T (p.Ala636=)
c.1923C>T (p.Ala641=)
c.2085C>T (p.Ala695=)
c.2166C>T (p.Ala722=)
c.*185C>T (n.*185C>T)
n.630C>T
c.2406C>T (p.Ala802=)
c.1980C>T (p.Ala660=)
c.2004C>T (p.Ala668=)
n.2135C>T
c.2400C>T (p.Ala800=)
n.2580C>T
n.2560C>T
c.2052C>T (p.Ala684=)
n.2545C>T
 ClinVar dbSNP
20g.3228993G>CCA509558243SLC4A11c.2037C>G (p.Ala679=)
c.1968C>G (p.Ala656=)
c.1908C>G (p.Ala636=)
c.1923C>G (p.Ala641=)
c.2085C>G (p.Ala695=)
c.2166C>G (p.Ala722=)
c.*185C>G (n.*185C>G)
n.630C>G
c.2406C>G (p.Ala802=)
c.1980C>G (p.Ala660=)
c.2004C>G (p.Ala668=)
n.2135C>G
c.2400C>G (p.Ala800=)
n.2580C>G
n.2560C>G
c.2052C>G (p.Ala684=)
n.2545C>G
20g.3228993G=CA2346475267SLC4A11c.2037C= (p.Ala679=)
c.1968C= (p.Ala656=)
c.1908C= (p.Ala636=)
c.1923C= (p.Ala641=)
c.2085C= (p.Ala695=)
c.2166C= (p.Ala722=)
c.*185C= (n.*185C=)
n.630C=
c.2406C= (p.Ala802=)
c.1980C= (p.Ala660=)
c.2004C= (p.Ala668=)
n.2135C=
c.2400C= (p.Ala800=)
n.2580C=
n.2560C=
c.2052C= (p.Ala684=)
n.2545C=
20g.3228993G>TCA509558245SLC4A11c.2037C>A (p.Ala679=)
c.1968C>A (p.Ala656=)
c.1908C>A (p.Ala636=)
c.1923C>A (p.Ala641=)
c.2085C>A (p.Ala695=)
c.2166C>A (p.Ala722=)
c.*185C>A (n.*185C>A)
n.630C>A
c.2406C>A (p.Ala802=)
c.1980C>A (p.Ala660=)
c.2004C>A (p.Ala668=)
n.2135C>A
c.2400C>A (p.Ala800=)
n.2580C>A
n.2560C>A
c.2052C>A (p.Ala684=)
n.2545C>A
 ClinVar dbSNP
20g.3228994G>ACA408087157SLC4A11c.2036C>T (p.Ala679Val)
c.1967C>T (p.Ala656Val)
c.1907C>T (p.Ala636Val)
c.1922C>T (p.Ala641Val)
c.2084C>T (p.Ala695Val)
c.2165C>T (p.Ala722Val)
c.*184C>T (n.*184C>T)
n.629C>T
c.2405C>T (p.Ala802Val)
c.1979C>T (p.Ala660Val)
c.2003C>T (p.Ala668Val)
n.2134C>T
c.2399C>T (p.Ala800Val)
n.2579C>T
n.2559C>T
c.2051C>T (p.Ala684Val)
n.2544C>T
20g.3228994G>CCA408087158SLC4A11c.2036C>G (p.Ala679Gly)
c.1967C>G (p.Ala656Gly)
c.1907C>G (p.Ala636Gly)
c.1922C>G (p.Ala641Gly)
c.2084C>G (p.Ala695Gly)
c.2165C>G (p.Ala722Gly)
c.*184C>G (n.*184C>G)
n.629C>G
c.2405C>G (p.Ala802Gly)
c.1979C>G (p.Ala660Gly)
c.2003C>G (p.Ala668Gly)
n.2134C>G
c.2399C>G (p.Ala800Gly)
n.2579C>G
n.2559C>G
c.2051C>G (p.Ala684Gly)
n.2544C>G
 gnomAD v4
20g.3228994G>TCA408087159SLC4A11c.2036C>A (p.Ala679Asp)
c.1967C>A (p.Ala656Asp)
c.1907C>A (p.Ala636Asp)
c.1922C>A (p.Ala641Asp)
c.2084C>A (p.Ala695Asp)
c.2165C>A (p.Ala722Asp)
c.*184C>A (n.*184C>A)
n.629C>A
c.2405C>A (p.Ala802Asp)
c.1979C>A (p.Ala660Asp)
c.2003C>A (p.Ala668Asp)
n.2134C>A
c.2399C>A (p.Ala800Asp)
n.2579C>A
n.2559C>A
c.2051C>A (p.Ala684Asp)
n.2544C>A
20g.3228995C>ACA408087160SLC4A11c.2035G>T (p.Ala679Ser)
c.1966G>T (p.Ala656Ser)
c.1906G>T (p.Ala636Ser)
c.1921G>T (p.Ala641Ser)
c.2083G>T (p.Ala695Ser)
c.2164G>T (p.Ala722Ser)
c.*183G>T (n.*183G>T)
n.628G>T
c.2404G>T (p.Ala802Ser)
c.1978G>T (p.Ala660Ser)
c.2002G>T (p.Ala668Ser)
n.2133G>T
c.2398G>T (p.Ala800Ser)
n.2578G>T
n.2558G>T
c.2050G>T (p.Ala684Ser)
n.2543G>T
20g.3228995C>GCA408087161SLC4A11c.2035G>C (p.Ala679Pro)
c.1966G>C (p.Ala656Pro)
c.1906G>C (p.Ala636Pro)
c.1921G>C (p.Ala641Pro)
c.2083G>C (p.Ala695Pro)
c.2164G>C (p.Ala722Pro)
c.*183G>C (n.*183G>C)
n.628G>C
c.2404G>C (p.Ala802Pro)
c.1978G>C (p.Ala660Pro)
c.2002G>C (p.Ala668Pro)
n.2133G>C
c.2398G>C (p.Ala800Pro)
n.2578G>C
n.2558G>C
c.2050G>C (p.Ala684Pro)
n.2543G>C
20g.3228995C>TCA408087162SLC4A11c.2035G>A (p.Ala679Thr)
c.1966G>A (p.Ala656Thr)
c.1906G>A (p.Ala636Thr)
c.1921G>A (p.Ala641Thr)
c.2083G>A (p.Ala695Thr)
c.2164G>A (p.Ala722Thr)
c.*183G>A (n.*183G>A)
n.628G>A
c.2404G>A (p.Ala802Thr)
c.1978G>A (p.Ala660Thr)
c.2002G>A (p.Ala668Thr)
n.2133G>A
c.2398G>A (p.Ala800Thr)
n.2578G>A
n.2558G>A
c.2050G>A (p.Ala684Thr)
n.2543G>A
 gnomAD v4
20g.3228996A>CCA509558248SLC4A11c.2034T>G (p.Thr678=)
c.1965T>G (p.Thr655=)
c.1905T>G (p.Thr635=)
c.1920T>G (p.Thr640=)
c.2082T>G (p.Thr694=)
c.2163T>G (p.Thr721=)
c.*182T>G (n.*182T>G)
n.627T>G
c.2403T>G (p.Thr801=)
c.1977T>G (p.Thr659=)
c.2001T>G (p.Thr667=)
n.2132T>G
c.2397T>G (p.Thr799=)
n.2577T>G
n.2557T>G
c.2049T>G (p.Thr683=)
n.2542T>G
20g.3228996A>GCA509558249SLC4A11c.2034T>C (p.Thr678=)
c.1965T>C (p.Thr655=)
c.1905T>C (p.Thr635=)
c.1920T>C (p.Thr640=)
c.2082T>C (p.Thr694=)
c.2163T>C (p.Thr721=)
c.*182T>C (n.*182T>C)
n.627T>C
c.2403T>C (p.Thr801=)
c.1977T>C (p.Thr659=)
c.2001T>C (p.Thr667=)
n.2132T>C
c.2397T>C (p.Thr799=)
n.2577T>C
n.2557T>C
c.2049T>C (p.Thr683=)
n.2542T>C
20g.3228996A>TCA509558250SLC4A11c.2034T>A (p.Thr678=)
c.1965T>A (p.Thr655=)
c.1905T>A (p.Thr635=)
c.1920T>A (p.Thr640=)
c.2082T>A (p.Thr694=)
c.2163T>A (p.Thr721=)
c.*182T>A (n.*182T>A)
n.627T>A
c.2403T>A (p.Thr801=)
c.1977T>A (p.Thr659=)
c.2001T>A (p.Thr667=)
n.2132T>A
c.2397T>A (p.Thr799=)
n.2577T>A
n.2557T>A
c.2049T>A (p.Thr683=)
n.2542T>A
20g.3228997G>ACA408087163SLC4A11c.2033C>T (p.Thr678Ile)
c.1964C>T (p.Thr655Ile)
c.1904C>T (p.Thr635Ile)
c.1919C>T (p.Thr640Ile)
c.2081C>T (p.Thr694Ile)
c.2162C>T (p.Thr721Ile)
c.*181C>T (n.*181C>T)
n.626C>T
c.2402C>T (p.Thr801Ile)
c.1976C>T (p.Thr659Ile)
c.2000C>T (p.Thr667Ile)
n.2131C>T
c.2396C>T (p.Thr799Ile)
n.2576C>T
n.2556C>T
c.2048C>T (p.Thr683Ile)
n.2541C>T
 dbSNP
20g.3228997G>CCA408087164SLC4A11c.2033C>G (p.Thr678Ser)
c.1964C>G (p.Thr655Ser)
c.1904C>G (p.Thr635Ser)
c.1919C>G (p.Thr640Ser)
c.2081C>G (p.Thr694Ser)
c.2162C>G (p.Thr721Ser)
c.*181C>G (n.*181C>G)
n.626C>G
c.2402C>G (p.Thr801Ser)
c.1976C>G (p.Thr659Ser)
c.2000C>G (p.Thr667Ser)
n.2131C>G
c.2396C>G (p.Thr799Ser)
n.2576C>G
n.2556C>G
c.2048C>G (p.Thr683Ser)
n.2541C>G
20g.3228997G=CA2346475268SLC4A11c.2033C= (p.Thr678=)
c.1964C= (p.Thr655=)
c.1904C= (p.Thr635=)
c.1919C= (p.Thr640=)
c.2081C= (p.Thr694=)
c.2162C= (p.Thr721=)
c.*181C= (n.*181C=)
n.626C=
c.2402C= (p.Thr801=)
c.1976C= (p.Thr659=)
c.2000C= (p.Thr667=)
n.2131C=
c.2396C= (p.Thr799=)
n.2576C=
n.2556C=
c.2048C= (p.Thr683=)
n.2541C=
20g.3228997G>TCA408087165SLC4A11c.2033C>A (p.Thr678Asn)
c.1964C>A (p.Thr655Asn)
c.1904C>A (p.Thr635Asn)
c.1919C>A (p.Thr640Asn)
c.2081C>A (p.Thr694Asn)
c.2162C>A (p.Thr721Asn)
c.*181C>A (n.*181C>A)
n.626C>A
c.2402C>A (p.Thr801Asn)
c.1976C>A (p.Thr659Asn)
c.2000C>A (p.Thr667Asn)
n.2131C>A
c.2396C>A (p.Thr799Asn)
n.2576C>A
n.2556C>A
c.2048C>A (p.Thr683Asn)
n.2541C>A
20g.3228998T>ACA9741601SLC4A11c.2032A>T (p.Thr678Ser)
c.1963A>T (p.Thr655Ser)
c.1903A>T (p.Thr635Ser)
c.1918A>T (p.Thr640Ser)
c.2080A>T (p.Thr694Ser)
c.2161A>T (p.Thr721Ser)
c.*180A>T (n.*180A>T)
n.625A>T
c.2401A>T (p.Thr801Ser)
c.1975A>T (p.Thr659Ser)
c.1999A>T (p.Thr667Ser)
n.2130A>T
c.2395A>T (p.Thr799Ser)
n.2575A>T
n.2555A>T
c.2047A>T (p.Thr683Ser)
n.2540A>T
 dbSNP ExAC gnomAD v2
20g.3228998T>CCA408087166SLC4A11c.2032A>G (p.Thr678Ala)
c.1963A>G (p.Thr655Ala)
c.1903A>G (p.Thr635Ala)
c.1918A>G (p.Thr640Ala)
c.2080A>G (p.Thr694Ala)
c.2161A>G (p.Thr721Ala)
c.*180A>G (n.*180A>G)
n.625A>G
c.2401A>G (p.Thr801Ala)
c.1975A>G (p.Thr659Ala)
c.1999A>G (p.Thr667Ala)
n.2130A>G
c.2395A>G (p.Thr799Ala)
n.2575A>G
n.2555A>G
c.2047A>G (p.Thr683Ala)
n.2540A>G
 gnomAD v4
20g.3228998T>GCA408087167SLC4A11c.2032A>C (p.Thr678Pro)
c.1963A>C (p.Thr655Pro)
c.1903A>C (p.Thr635Pro)
c.1918A>C (p.Thr640Pro)
c.2080A>C (p.Thr694Pro)
c.2161A>C (p.Thr721Pro)
c.*180A>C (n.*180A>C)
n.625A>C
c.2401A>C (p.Thr801Pro)
c.1975A>C (p.Thr659Pro)
c.1999A>C (p.Thr667Pro)
n.2130A>C
c.2395A>C (p.Thr799Pro)
n.2575A>C
n.2555A>C
c.2047A>C (p.Thr683Pro)
n.2540A>C
20g.3228998T=CA2346475269SLC4A11c.2032A= (p.Thr678=)
c.1963A= (p.Thr655=)
c.1903A= (p.Thr635=)
c.1918A= (p.Thr640=)
c.2080A= (p.Thr694=)
c.2161A= (p.Thr721=)
c.*180A= (n.*180A=)
n.625A=
c.2401A= (p.Thr801=)
c.1975A= (p.Thr659=)
c.1999A= (p.Thr667=)
n.2130A=
c.2395A= (p.Thr799=)
n.2575A=
n.2555A=
c.2047A= (p.Thr683=)
n.2540A=
20g.3228999G>ACA509558252SLC4A11c.2031C>T (p.Gly677=)
c.1962C>T (p.Gly654=)
c.1902C>T (p.Gly634=)
c.1917C>T (p.Gly639=)
c.2079C>T (p.Gly693=)
c.2160C>T (p.Gly720=)
c.*179C>T (n.*179C>T)
n.624C>T
c.2400C>T (p.Gly800=)
c.1974C>T (p.Gly658=)
c.1998C>T (p.Gly666=)
n.2129C>T
c.2394C>T (p.Gly798=)
n.2574C>T
n.2554C>T
c.2046C>T (p.Gly682=)
n.2539C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228999G>CCA509558254SLC4A11c.2031C>G (p.Gly677=)
c.1962C>G (p.Gly654=)
c.1902C>G (p.Gly634=)
c.1917C>G (p.Gly639=)
c.2079C>G (p.Gly693=)
c.2160C>G (p.Gly720=)
c.*179C>G (n.*179C>G)
n.624C>G
c.2400C>G (p.Gly800=)
c.1974C>G (p.Gly658=)
c.1998C>G (p.Gly666=)
n.2129C>G
c.2394C>G (p.Gly798=)
n.2574C>G
n.2554C>G
c.2046C>G (p.Gly682=)
n.2539C>G
20g.3228999G=CA2346475270SLC4A11c.2031C= (p.Gly677=)
c.1962C= (p.Gly654=)
c.1902C= (p.Gly634=)
c.1917C= (p.Gly639=)
c.2079C= (p.Gly693=)
c.2160C= (p.Gly720=)
c.*179C= (n.*179C=)
n.624C=
c.2400C= (p.Gly800=)
c.1974C= (p.Gly658=)
c.1998C= (p.Gly666=)
n.2129C=
c.2394C= (p.Gly798=)
n.2574C=
n.2554C=
c.2046C= (p.Gly682=)
n.2539C=
20g.3228999G>TCA509558256SLC4A11c.2031C>A (p.Gly677=)
c.1962C>A (p.Gly654=)
c.1902C>A (p.Gly634=)
c.1917C>A (p.Gly639=)
c.2079C>A (p.Gly693=)
c.2160C>A (p.Gly720=)
c.*179C>A (n.*179C>A)
n.624C>A
c.2400C>A (p.Gly800=)
c.1974C>A (p.Gly658=)
c.1998C>A (p.Gly666=)
n.2129C>A
c.2394C>A (p.Gly798=)
n.2574C>A
n.2554C>A
c.2046C>A (p.Gly682=)
n.2539C>A
20g.3229000C>ACA408087168SLC4A11c.2030G>T (p.Gly677Val)
c.1961G>T (p.Gly654Val)
c.1901G>T (p.Gly634Val)
c.1916G>T (p.Gly639Val)
c.2078G>T (p.Gly693Val)
c.2159G>T (p.Gly720Val)
c.*178G>T (n.*178G>T)
n.623G>T
c.2399G>T (p.Gly800Val)
c.1973G>T (p.Gly658Val)
c.1997G>T (p.Gly666Val)
n.2128G>T
c.2393G>T (p.Gly798Val)
n.2573G>T
n.2553G>T
c.2045G>T (p.Gly682Val)
n.2538G>T
20g.3229000C=CA2346475271SLC4A11c.2030G= (p.Gly677=)
c.1961G= (p.Gly654=)
c.1901G= (p.Gly634=)
c.1916G= (p.Gly639=)
c.2078G= (p.Gly693=)
c.2159G= (p.Gly720=)
c.*178G= (n.*178G=)
n.623G=
c.2399G= (p.Gly800=)
c.1973G= (p.Gly658=)
c.1997G= (p.Gly666=)
n.2128G=
c.2393G= (p.Gly798=)
n.2573G=
n.2553G=
c.2045G= (p.Gly682=)
n.2538G=
20g.3229000C>GCA408087169SLC4A11c.2030G>C (p.Gly677Ala)
c.1961G>C (p.Gly654Ala)
c.1901G>C (p.Gly634Ala)
c.1916G>C (p.Gly639Ala)
c.2078G>C (p.Gly693Ala)
c.2159G>C (p.Gly720Ala)
c.*178G>C (n.*178G>C)
n.623G>C
c.2399G>C (p.Gly800Ala)
c.1973G>C (p.Gly658Ala)
c.1997G>C (p.Gly666Ala)
n.2128G>C
c.2393G>C (p.Gly798Ala)
n.2573G>C
n.2553G>C
c.2045G>C (p.Gly682Ala)
n.2538G>C
20g.3229000C>TCA9741602SLC4A11c.2030G>A (p.Gly677Asp)
c.1961G>A (p.Gly654Asp)
c.1901G>A (p.Gly634Asp)
c.1916G>A (p.Gly639Asp)
c.2078G>A (p.Gly693Asp)
c.2159G>A (p.Gly720Asp)
c.*178G>A (n.*178G>A)
n.623G>A
c.2399G>A (p.Gly800Asp)
c.1973G>A (p.Gly658Asp)
c.1997G>A (p.Gly666Asp)
n.2128G>A
c.2393G>A (p.Gly798Asp)
n.2573G>A
n.2553G>A
c.2045G>A (p.Gly682Asp)
n.2538G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3229001C>ACA408087170SLC4A11c.2029G>T (p.Gly677Cys)
c.1960G>T (p.Gly654Cys)
c.1900G>T (p.Gly634Cys)
c.1915G>T (p.Gly639Cys)
c.2077G>T (p.Gly693Cys)
c.2158G>T (p.Gly720Cys)
c.*177G>T (n.*177G>T)
n.622G>T
c.2398G>T (p.Gly800Cys)
c.1972G>T (p.Gly658Cys)
c.1996G>T (p.Gly666Cys)
n.2127G>T
c.2392G>T (p.Gly798Cys)
n.2572G>T
n.2552G>T
c.2044G>T (p.Gly682Cys)
n.2537G>T
20g.3229001C>GCA408087171SLC4A11c.2029G>C (p.Gly677Arg)
c.1960G>C (p.Gly654Arg)
c.1900G>C (p.Gly634Arg)
c.1915G>C (p.Gly639Arg)
c.2077G>C (p.Gly693Arg)
c.2158G>C (p.Gly720Arg)
c.*177G>C (n.*177G>C)
n.622G>C
c.2398G>C (p.Gly800Arg)
c.1972G>C (p.Gly658Arg)
c.1996G>C (p.Gly666Arg)
n.2127G>C
c.2392G>C (p.Gly798Arg)
n.2572G>C
n.2552G>C
c.2044G>C (p.Gly682Arg)
n.2537G>C
20g.3229001C>TCA408087172SLC4A11c.2029G>A (p.Gly677Ser)
c.1960G>A (p.Gly654Ser)
c.1900G>A (p.Gly634Ser)
c.1915G>A (p.Gly639Ser)
c.2077G>A (p.Gly693Ser)
c.2158G>A (p.Gly720Ser)
c.*177G>A (n.*177G>A)
n.622G>A
c.2398G>A (p.Gly800Ser)
c.1972G>A (p.Gly658Ser)
c.1996G>A (p.Gly666Ser)
n.2127G>A
c.2392G>A (p.Gly798Ser)
n.2572G>A
n.2552G>A
c.2044G>A (p.Gly682Ser)
n.2537G>A
20g.3229002C>ACA408087173SLC4A11c.2028G>T (p.Lys676Asn)
c.1959G>T (p.Lys653Asn)
c.1899G>T (p.Lys633Asn)
c.1914G>T (p.Lys638Asn)
c.2076G>T (p.Lys692Asn)
c.2157G>T (p.Lys719Asn)
c.*176G>T (n.*176G>T)
n.621G>T
c.2397G>T (p.Lys799Asn)
c.1971G>T (p.Lys657Asn)
c.1995G>T (p.Lys665Asn)
n.2126G>T
c.2391G>T (p.Lys797Asn)
n.2571G>T
n.2551G>T
c.2043G>T (p.Lys681Asn)
n.2536G>T
20g.3229002C>GCA408087174SLC4A11c.2028G>C (p.Lys676Asn)
c.1959G>C (p.Lys653Asn)
c.1899G>C (p.Lys633Asn)
c.1914G>C (p.Lys638Asn)
c.2076G>C (p.Lys692Asn)
c.2157G>C (p.Lys719Asn)
c.*176G>C (n.*176G>C)
n.621G>C
c.2397G>C (p.Lys799Asn)
c.1971G>C (p.Lys657Asn)
c.1995G>C (p.Lys665Asn)
n.2126G>C
c.2391G>C (p.Lys797Asn)
n.2571G>C
n.2551G>C
c.2043G>C (p.Lys681Asn)
n.2536G>C
20g.3229002C>TCA509558265SLC4A11c.2028G>A (p.Lys676=)
c.1959G>A (p.Lys653=)
c.1899G>A (p.Lys633=)
c.1914G>A (p.Lys638=)
c.2076G>A (p.Lys692=)
c.2157G>A (p.Lys719=)
c.*176G>A (n.*176G>A)
n.621G>A
c.2397G>A (p.Lys799=)
c.1971G>A (p.Lys657=)
c.1995G>A (p.Lys665=)
n.2126G>A
c.2391G>A (p.Lys797=)
n.2571G>A
n.2551G>A
c.2043G>A (p.Lys681=)
n.2536G>A
20g.3229003T>ACA408087177SLC4A11c.2027A>T (p.Lys676Met)
c.1958A>T (p.Lys653Met)
c.1898A>T (p.Lys633Met)
c.1913A>T (p.Lys638Met)
c.2075A>T (p.Lys692Met)
c.2156A>T (p.Lys719Met)
c.*175A>T (n.*175A>T)
n.620A>T
c.2396A>T (p.Lys799Met)
c.1970A>T (p.Lys657Met)
c.1994A>T (p.Lys665Met)
n.2125A>T
c.2390A>T (p.Lys797Met)
n.2570A>T
n.2550A>T
c.2042A>T (p.Lys681Met)
n.2535A>T
20g.3229003T>CCA408087176SLC4A11c.2027A>G (p.Lys676Arg)
c.1958A>G (p.Lys653Arg)
c.1898A>G (p.Lys633Arg)
c.1913A>G (p.Lys638Arg)
c.2075A>G (p.Lys692Arg)
c.2156A>G (p.Lys719Arg)
c.*175A>G (n.*175A>G)
n.620A>G
c.2396A>G (p.Lys799Arg)
c.1970A>G (p.Lys657Arg)
c.1994A>G (p.Lys665Arg)
n.2125A>G
c.2390A>G (p.Lys797Arg)
n.2570A>G
n.2550A>G
c.2042A>G (p.Lys681Arg)
n.2535A>G
 dbSNP
20g.3229003T>GCA408087175SLC4A11c.2027A>C (p.Lys676Thr)
c.1958A>C (p.Lys653Thr)
c.1898A>C (p.Lys633Thr)
c.1913A>C (p.Lys638Thr)
c.2075A>C (p.Lys692Thr)
c.2156A>C (p.Lys719Thr)
c.*175A>C (n.*175A>C)
n.620A>C
c.2396A>C (p.Lys799Thr)
c.1970A>C (p.Lys657Thr)
c.1994A>C (p.Lys665Thr)
n.2125A>C
c.2390A>C (p.Lys797Thr)
n.2570A>C
n.2550A>C
c.2042A>C (p.Lys681Thr)
n.2535A>C
20g.3229003T=CA2346475272SLC4A11c.2027A= (p.Lys676=)
c.1958A= (p.Lys653=)
c.1898A= (p.Lys633=)
c.1913A= (p.Lys638=)
c.2075A= (p.Lys692=)
c.2156A= (p.Lys719=)
c.*175A= (n.*175A=)
n.620A=
c.2396A= (p.Lys799=)
c.1970A= (p.Lys657=)
c.1994A= (p.Lys665=)
n.2125A=
c.2390A= (p.Lys797=)
n.2570A=
n.2550A=
c.2042A= (p.Lys681=)
n.2535A=
20g.3229004T>ACA408087178SLC4A11c.2026A>T (p.Lys676Ter)
c.1957A>T (p.Lys653Ter)
c.1897A>T (p.Lys633Ter)
c.1912A>T (p.Lys638Ter)
c.2074A>T (p.Lys692Ter)
c.2155A>T (p.Lys719Ter)
c.*174A>T (n.*174A>T)
n.619A>T
c.2395A>T (p.Lys799Ter)
c.1969A>T (p.Lys657Ter)
c.1993A>T (p.Lys665Ter)
n.2124A>T
c.2389A>T (p.Lys797Ter)
n.2569A>T
n.2549A>T
c.2041A>T (p.Lys681Ter)
n.2534A>T
20g.3229004T>CCA408087179SLC4A11c.2026A>G (p.Lys676Glu)
c.1957A>G (p.Lys653Glu)
c.1897A>G (p.Lys633Glu)
c.1912A>G (p.Lys638Glu)
c.2074A>G (p.Lys692Glu)
c.2155A>G (p.Lys719Glu)
c.*174A>G (n.*174A>G)
n.619A>G
c.2395A>G (p.Lys799Glu)
c.1969A>G (p.Lys657Glu)
c.1993A>G (p.Lys665Glu)
n.2124A>G
c.2389A>G (p.Lys797Glu)
n.2569A>G
n.2549A>G
c.2041A>G (p.Lys681Glu)
n.2534A>G
 gnomAD v4
20g.3229004T>GCA408087180SLC4A11c.2026A>C (p.Lys676Gln)
c.1957A>C (p.Lys653Gln)
c.1897A>C (p.Lys633Gln)
c.1912A>C (p.Lys638Gln)
c.2074A>C (p.Lys692Gln)
c.2155A>C (p.Lys719Gln)
c.*174A>C (n.*174A>C)
n.619A>C
c.2395A>C (p.Lys799Gln)
c.1969A>C (p.Lys657Gln)
c.1993A>C (p.Lys665Gln)
n.2124A>C
c.2389A>C (p.Lys797Gln)
n.2569A>C
n.2549A>C
c.2041A>C (p.Lys681Gln)
n.2534A>C
20g.3229004_3229008dupCA2651691266SLC4A11c.2022_2026dup (p.Lys676ArgfsTer2)
c.1953_1957dup (p.Lys653ArgfsTer2)
c.1893_1897dup (p.Lys633ArgfsTer2)
c.1908_1912dup (p.Lys638ArgfsTer2)
c.2070_2074dup (p.Lys692ArgfsTer2)
c.2151_2155dup (p.Lys719ArgfsTer2)
c.*170_*174dup (n.*170_*174dup)
n.615_619dup
c.2391_2395dup (p.Lys799ArgfsTer2)
c.1965_1969dup (p.Lys657ArgfsTer2)
c.1989_1993dup (p.Lys665ArgfsTer2)
n.2120_2124dup
c.2385_2389dup (p.Lys797ArgfsTer2)
n.2565_2569dup
n.2545_2549dup
c.2037_2041dup (p.Lys681ArgfsTer2)
n.2530_2534dup
 dbSNP gnomAD v4
20g.3229005C>ACA509558268SLC4A11c.2025G>T (p.Val675=)
c.1956G>T (p.Val652=)
c.1896G>T (p.Val632=)
c.1911G>T (p.Val637=)
c.2073G>T (p.Val691=)
c.2154G>T (p.Val718=)
c.*173G>T (n.*173G>T)
n.618G>T
c.2394G>T (p.Val798=)
c.1968G>T (p.Val656=)
c.1992G>T (p.Val664=)
n.2123G>T
c.2388G>T (p.Val796=)
n.2568G>T
n.2548G>T
c.2040G>T (p.Val680=)
n.2533G>T
20g.3229005C>GCA509558270SLC4A11c.2025G>C (p.Val675=)
c.1956G>C (p.Val652=)
c.1896G>C (p.Val632=)
c.1911G>C (p.Val637=)
c.2073G>C (p.Val691=)
c.2154G>C (p.Val718=)
c.*173G>C (n.*173G>C)
n.618G>C
c.2394G>C (p.Val798=)
c.1968G>C (p.Val656=)
c.1992G>C (p.Val664=)
n.2123G>C
c.2388G>C (p.Val796=)
n.2568G>C
n.2548G>C
c.2040G>C (p.Val680=)
n.2533G>C
20g.3229005C>TCA509558271SLC4A11c.2025G>A (p.Val675=)
c.1956G>A (p.Val652=)
c.1896G>A (p.Val632=)
c.1911G>A (p.Val637=)
c.2073G>A (p.Val691=)
c.2154G>A (p.Val718=)
c.*173G>A (n.*173G>A)
n.618G>A
c.2394G>A (p.Val798=)
c.1968G>A (p.Val656=)
c.1992G>A (p.Val664=)
n.2123G>A
c.2388G>A (p.Val796=)
n.2568G>A
n.2548G>A
c.2040G>A (p.Val680=)
n.2533G>A
20g.3229006A=CA2346475273SLC4A11c.2024T= (p.Val675=)
c.1955T= (p.Val652=)
c.1895T= (p.Val632=)
c.1910T= (p.Val637=)
c.2072T= (p.Val691=)
c.2153T= (p.Val718=)
c.*172T= (n.*172T=)
n.617T=
c.2393T= (p.Val798=)
c.1967T= (p.Val656=)
c.1991T= (p.Val664=)
n.2122T=
c.2387T= (p.Val796=)
n.2567T=
n.2547T=
c.2039T= (p.Val680=)
n.2532T=
20g.3229006A>CCA9741603SLC4A11c.2024T>G (p.Val675Gly)
c.1955T>G (p.Val652Gly)
c.1895T>G (p.Val632Gly)
c.1910T>G (p.Val637Gly)
c.2072T>G (p.Val691Gly)
c.2153T>G (p.Val718Gly)
c.*172T>G (n.*172T>G)
n.617T>G
c.2393T>G (p.Val798Gly)
c.1967T>G (p.Val656Gly)
c.1991T>G (p.Val664Gly)
n.2122T>G
c.2387T>G (p.Val796Gly)
n.2567T>G
n.2547T>G
c.2039T>G (p.Val680Gly)
n.2532T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3229006A>GCA408087181SLC4A11c.2024T>C (p.Val675Ala)
c.1955T>C (p.Val652Ala)
c.1895T>C (p.Val632Ala)
c.1910T>C (p.Val637Ala)
c.2072T>C (p.Val691Ala)
c.2153T>C (p.Val718Ala)
c.*172T>C (n.*172T>C)
n.617T>C
c.2393T>C (p.Val798Ala)
c.1967T>C (p.Val656Ala)
c.1991T>C (p.Val664Ala)
n.2122T>C
c.2387T>C (p.Val796Ala)
n.2567T>C
n.2547T>C
c.2039T>C (p.Val680Ala)
n.2532T>C
20g.3229006A>TCA408087182SLC4A11c.2024T>A (p.Val675Glu)
c.1955T>A (p.Val652Glu)
c.1895T>A (p.Val632Glu)
c.1910T>A (p.Val637Glu)
c.2072T>A (p.Val691Glu)
c.2153T>A (p.Val718Glu)
c.*172T>A (n.*172T>A)
n.617T>A
c.2393T>A (p.Val798Glu)
c.1967T>A (p.Val656Glu)
c.1991T>A (p.Val664Glu)
n.2122T>A
c.2387T>A (p.Val796Glu)
n.2567T>A
n.2547T>A
c.2039T>A (p.Val680Glu)
n.2532T>A
20g.3229007C>ACA408087183SLC4A11c.2023G>T (p.Val675Leu)
c.1954G>T (p.Val652Leu)
c.1894G>T (p.Val632Leu)
c.1909G>T (p.Val637Leu)
c.2071G>T (p.Val691Leu)
c.2152G>T (p.Val718Leu)
c.*171G>T (n.*171G>T)
n.616G>T
c.2392G>T (p.Val798Leu)
c.1966G>T (p.Val656Leu)
c.1990G>T (p.Val664Leu)
n.2121G>T
c.2386G>T (p.Val796Leu)
n.2566G>T
n.2546G>T
c.2038G>T (p.Val680Leu)
n.2531G>T
20g.3229007C=CA2346475274SLC4A11c.2023G= (p.Val675=)
c.1954G= (p.Val652=)
c.1894G= (p.Val632=)
c.1909G= (p.Val637=)
c.2071G= (p.Val691=)
c.2152G= (p.Val718=)
c.*171G= (n.*171G=)
n.616G=
c.2392G= (p.Val798=)
c.1966G= (p.Val656=)
c.1990G= (p.Val664=)
n.2121G=
c.2386G= (p.Val796=)
n.2566G=
n.2546G=
c.2038G= (p.Val680=)
n.2531G=
20g.3229007C>GCA408087185SLC4A11c.2023G>C (p.Val675Leu)
c.1954G>C (p.Val652Leu)
c.1894G>C (p.Val632Leu)
c.1909G>C (p.Val637Leu)
c.2071G>C (p.Val691Leu)
c.2152G>C (p.Val718Leu)
c.*171G>C (n.*171G>C)
n.616G>C
c.2392G>C (p.Val798Leu)
c.1966G>C (p.Val656Leu)
c.1990G>C (p.Val664Leu)
n.2121G>C
c.2386G>C (p.Val796Leu)
n.2566G>C
n.2546G>C
c.2038G>C (p.Val680Leu)
n.2531G>C
20g.3229007C>TCA408087184SLC4A11c.2023G>A (p.Val675Met)
c.1954G>A (p.Val652Met)
c.1894G>A (p.Val632Met)
c.1909G>A (p.Val637Met)
c.2071G>A (p.Val691Met)
c.2152G>A (p.Val718Met)
c.*171G>A (n.*171G>A)
n.616G>A
c.2392G>A (p.Val798Met)
c.1966G>A (p.Val656Met)
c.1990G>A (p.Val664Met)
n.2121G>A
c.2386G>A (p.Val796Met)
n.2566G>A
n.2546G>A
c.2038G>A (p.Val680Met)
n.2531G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3229008C>ACA509558277SLC4A11c.2022G>T (p.Leu674=)
c.1953G>T (p.Leu651=)
c.1893G>T (p.Leu631=)
c.1908G>T (p.Leu636=)
c.2070G>T (p.Leu690=)
c.2151G>T (p.Leu717=)
c.*170G>T (n.*170G>T)
n.615G>T
c.2391G>T (p.Leu797=)
c.1965G>T (p.Leu655=)
c.1989G>T (p.Leu663=)
n.2120G>T
c.2385G>T (p.Leu795=)
n.2565G>T
n.2545G>T
c.2037G>T (p.Leu679=)
n.2530G>T
20g.3229008C>GCA509558275SLC4A11c.2022G>C (p.Leu674=)
c.1953G>C (p.Leu651=)
c.1893G>C (p.Leu631=)
c.1908G>C (p.Leu636=)
c.2070G>C (p.Leu690=)
c.2151G>C (p.Leu717=)
c.*170G>C (n.*170G>C)
n.615G>C
c.2391G>C (p.Leu797=)
c.1965G>C (p.Leu655=)
c.1989G>C (p.Leu663=)
n.2120G>C
c.2385G>C (p.Leu795=)
n.2565G>C
n.2545G>C
c.2037G>C (p.Leu679=)
n.2530G>C
20g.3229008C>TCA509558273SLC4A11c.2022G>A (p.Leu674=)
c.1953G>A (p.Leu651=)
c.1893G>A (p.Leu631=)
c.1908G>A (p.Leu636=)
c.2070G>A (p.Leu690=)
c.2151G>A (p.Leu717=)
c.*170G>A (n.*170G>A)
n.615G>A
c.2391G>A (p.Leu797=)
c.1965G>A (p.Leu655=)
c.1989G>A (p.Leu663=)
n.2120G>A
c.2385G>A (p.Leu795=)
n.2565G>A
n.2545G>A
c.2037G>A (p.Leu679=)
n.2530G>A
 ClinVar dbSNP gnomAD v4
20g.3229009A>CCA408087186SLC4A11c.2021T>G (p.Leu674Arg)
c.1952T>G (p.Leu651Arg)
c.1892T>G (p.Leu631Arg)
c.1907T>G (p.Leu636Arg)
c.2069T>G (p.Leu690Arg)
c.2150T>G (p.Leu717Arg)
c.*169T>G (n.*169T>G)
n.614T>G
c.2390T>G (p.Leu797Arg)
c.1964T>G (p.Leu655Arg)
c.1988T>G (p.Leu663Arg)
n.2119T>G
c.2384T>G (p.Leu795Arg)
n.2564T>G
n.2544T>G
c.2036T>G (p.Leu679Arg)
n.2529T>G
20g.3229009A>GCA408087188SLC4A11c.2021T>C (p.Leu674Pro)
c.1952T>C (p.Leu651Pro)
c.1892T>C (p.Leu631Pro)
c.1907T>C (p.Leu636Pro)
c.2069T>C (p.Leu690Pro)
c.2150T>C (p.Leu717Pro)
c.*169T>C (n.*169T>C)
n.614T>C
c.2390T>C (p.Leu797Pro)
c.1964T>C (p.Leu655Pro)
c.1988T>C (p.Leu663Pro)
n.2119T>C
c.2384T>C (p.Leu795Pro)
n.2564T>C
n.2544T>C
c.2036T>C (p.Leu679Pro)
n.2529T>C
20g.3229009A>TCA408087187SLC4A11c.2021T>A (p.Leu674Gln)
c.1952T>A (p.Leu651Gln)
c.1892T>A (p.Leu631Gln)
c.1907T>A (p.Leu636Gln)
c.2069T>A (p.Leu690Gln)
c.2150T>A (p.Leu717Gln)
c.*169T>A (n.*169T>A)
n.614T>A
c.2390T>A (p.Leu797Gln)
c.1964T>A (p.Leu655Gln)
c.1988T>A (p.Leu663Gln)
n.2119T>A
c.2384T>A (p.Leu795Gln)
n.2564T>A
n.2544T>A
c.2036T>A (p.Leu679Gln)
n.2529T>A
20g.3229010G>ACA509558282SLC4A11c.2020C>T (p.Leu674=)
c.1951C>T (p.Leu651=)
c.1891C>T (p.Leu631=)
c.1906C>T (p.Leu636=)
c.2068C>T (p.Leu690=)
c.2149C>T (p.Leu717=)
c.*168C>T (n.*168C>T)
n.613C>T
c.2389C>T (p.Leu797=)
c.1963C>T (p.Leu655=)
c.1987C>T (p.Leu663=)
n.2118C>T
c.2383C>T (p.Leu795=)
n.2563C>T
n.2543C>T
c.2035C>T (p.Leu679=)
n.2528C>T
20g.3229010G>CCA408087189SLC4A11c.2020C>G (p.Leu674Val)
c.1951C>G (p.Leu651Val)
c.1891C>G (p.Leu631Val)
c.1906C>G (p.Leu636Val)
c.2068C>G (p.Leu690Val)
c.2149C>G (p.Leu717Val)
c.*168C>G (n.*168C>G)
n.613C>G
c.2389C>G (p.Leu797Val)
c.1963C>G (p.Leu655Val)
c.1987C>G (p.Leu663Val)
n.2118C>G
c.2383C>G (p.Leu795Val)
n.2563C>G
n.2543C>G
c.2035C>G (p.Leu679Val)
n.2528C>G
20g.3229010G=CA2346475275SLC4A11c.2020C= (p.Leu674=)
c.1951C= (p.Leu651=)
c.1891C= (p.Leu631=)
c.1906C= (p.Leu636=)
c.2068C= (p.Leu690=)
c.2149C= (p.Leu717=)
c.*168C= (n.*168C=)
n.613C=
c.2389C= (p.Leu797=)
c.1963C= (p.Leu655=)
c.1987C= (p.Leu663=)
n.2118C=
c.2383C= (p.Leu795=)
n.2563C=
n.2543C=
c.2035C= (p.Leu679=)
n.2528C=
20g.3229010G>TCA408087190SLC4A11c.2020C>A (p.Leu674Met)
c.1951C>A (p.Leu651Met)
c.1891C>A (p.Leu631Met)
c.1906C>A (p.Leu636Met)
c.2068C>A (p.Leu690Met)
c.2149C>A (p.Leu717Met)
c.*168C>A (n.*168C>A)
n.613C>A
c.2389C>A (p.Leu797Met)
c.1963C>A (p.Leu655Met)
c.1987C>A (p.Leu663Met)
n.2118C>A
c.2383C>A (p.Leu795Met)
n.2563C>A
n.2543C>A
c.2035C>A (p.Leu679Met)
n.2528C>A
 dbSNP
20g.3229011C>ACA408087191SLC4A11c.2019G>T (p.Arg673Ser)
c.1950G>T (p.Arg650Ser)
c.1890G>T (p.Arg630Ser)
c.1905G>T (p.Arg635Ser)
c.2067G>T (p.Arg689Ser)
c.2148G>T (p.Arg716Ser)
c.*167G>T (n.*167G>T)
n.612G>T
c.2388G>T (p.Arg796Ser)
c.1962G>T (p.Arg654Ser)
c.1986G>T (p.Arg662Ser)
n.2117G>T
c.2382G>T (p.Arg794Ser)
n.2562G>T
n.2542G>T
c.2034G>T (p.Arg678Ser)
n.2527G>T
20g.3229011C>GCA408087192SLC4A11c.2019G>C (p.Arg673Ser)
c.1950G>C (p.Arg650Ser)
c.1890G>C (p.Arg630Ser)
c.1905G>C (p.Arg635Ser)
c.2067G>C (p.Arg689Ser)
c.2148G>C (p.Arg716Ser)
c.*167G>C (n.*167G>C)
n.612G>C
c.2388G>C (p.Arg796Ser)
c.1962G>C (p.Arg654Ser)
c.1986G>C (p.Arg662Ser)
n.2117G>C
c.2382G>C (p.Arg794Ser)
n.2562G>C
n.2542G>C
c.2034G>C (p.Arg678Ser)
n.2527G>C
20g.3229011C>TCA509558284SLC4A11c.2019G>A (p.Arg673=)
c.1950G>A (p.Arg650=)
c.1890G>A (p.Arg630=)
c.1905G>A (p.Arg635=)
c.2067G>A (p.Arg689=)
c.2148G>A (p.Arg716=)
c.*167G>A (n.*167G>A)
n.612G>A
c.2388G>A (p.Arg796=)
c.1962G>A (p.Arg654=)
c.1986G>A (p.Arg662=)
n.2117G>A
c.2382G>A (p.Arg794=)
n.2562G>A
n.2542G>A
c.2034G>A (p.Arg678=)
n.2527G>A
20g.3229012C>ACA408087193SLC4A11c.2019-1G>T (n.2019-1G>T)
c.1950-1G>T (n.1950-1G>T)
c.1890-1G>T (n.1890-1G>T)
c.1905-1G>T (n.1905-1G>T)
c.2067-1G>T (n.2067-1G>T)
c.2148-1G>T (n.2148-1G>T)
c.*167-1G>T (n.*167-1G>T)
n.612-1G>T
c.2388-1G>T (n.2388-1G>T)
c.1962-1G>T (n.1962-1G>T)
c.1986-1G>T (n.1986-1G>T)
n.2117-1G>T
c.2382-1G>T (n.2382-1G>T)
n.2562-1G>T
n.2542-1G>T
c.2034-1G>T (n.2034-1G>T)
n.2527-1G>T
20g.3229012C>GCA408087194SLC4A11c.2019-1G>C (n.2019-1G>C)
c.1950-1G>C (n.1950-1G>C)
c.1890-1G>C (n.1890-1G>C)
c.1905-1G>C (n.1905-1G>C)
c.2067-1G>C (n.2067-1G>C)
c.2148-1G>C (n.2148-1G>C)
c.*167-1G>C (n.*167-1G>C)
n.612-1G>C
c.2388-1G>C (n.2388-1G>C)
c.1962-1G>C (n.1962-1G>C)
c.1986-1G>C (n.1986-1G>C)
n.2117-1G>C
c.2382-1G>C (n.2382-1G>C)
n.2562-1G>C
n.2542-1G>C
c.2034-1G>C (n.2034-1G>C)
n.2527-1G>C
20g.3229012C>TCA408087195SLC4A11c.2019-1G>A (n.2019-1G>A)
c.1950-1G>A (n.1950-1G>A)
c.1890-1G>A (n.1890-1G>A)
c.1905-1G>A (n.1905-1G>A)
c.2067-1G>A (n.2067-1G>A)
c.2148-1G>A (n.2148-1G>A)
c.*167-1G>A (n.*167-1G>A)
n.612-1G>A
c.2388-1G>A (n.2388-1G>A)
c.1962-1G>A (n.1962-1G>A)
c.1986-1G>A (n.1986-1G>A)
n.2117-1G>A
c.2382-1G>A (n.2382-1G>A)
n.2562-1G>A
n.2542-1G>A
c.2034-1G>A (n.2034-1G>A)
n.2527-1G>A
20g.3229013T>ACA408087196SLC4A11c.2019-2A>T (n.2019-2A>T)
c.1950-2A>T (n.1950-2A>T)
c.1890-2A>T (n.1890-2A>T)
c.1905-2A>T (n.1905-2A>T)
c.2067-2A>T (n.2067-2A>T)
c.2148-2A>T (n.2148-2A>T)
c.*167-2A>T (n.*167-2A>T)
n.612-2A>T
c.2388-2A>T (n.2388-2A>T)
c.1962-2A>T (n.1962-2A>T)
c.1986-2A>T (n.1986-2A>T)
n.2117-2A>T
c.2382-2A>T (n.2382-2A>T)
n.2562-2A>T
n.2542-2A>T
c.2034-2A>T (n.2034-2A>T)
n.2527-2A>T
20g.3229013T>CCA408087197SLC4A11c.2019-2A>G (n.2019-2A>G)
c.1950-2A>G (n.1950-2A>G)
c.1890-2A>G (n.1890-2A>G)
c.1905-2A>G (n.1905-2A>G)
c.2067-2A>G (n.2067-2A>G)
c.2148-2A>G (n.2148-2A>G)
c.*167-2A>G (n.*167-2A>G)
n.612-2A>G
c.2388-2A>G (n.2388-2A>G)
c.1962-2A>G (n.1962-2A>G)
c.1986-2A>G (n.1986-2A>G)
n.2117-2A>G
c.2382-2A>G (n.2382-2A>G)
n.2562-2A>G
n.2542-2A>G
c.2034-2A>G (n.2034-2A>G)
n.2527-2A>G
20g.3229013T>GCA408087198SLC4A11c.2019-2A>C (n.2019-2A>C)
c.1950-2A>C (n.1950-2A>C)
c.1890-2A>C (n.1890-2A>C)
c.1905-2A>C (n.1905-2A>C)
c.2067-2A>C (n.2067-2A>C)
c.2148-2A>C (n.2148-2A>C)
c.*167-2A>C (n.*167-2A>C)
n.612-2A>C
c.2388-2A>C (n.2388-2A>C)
c.1962-2A>C (n.1962-2A>C)
c.1986-2A>C (n.1986-2A>C)
n.2117-2A>C
c.2382-2A>C (n.2382-2A>C)
n.2562-2A>C
n.2542-2A>C
c.2034-2A>C (n.2034-2A>C)
n.2527-2A>C
20g.3229014G>ACA9741604SLC4A11c.2019-3C>T (n.2019-3C>T)
c.1950-3C>T (n.1950-3C>T)
c.1890-3C>T (n.1890-3C>T)
c.1905-3C>T (n.1905-3C>T)
c.2067-3C>T (n.2067-3C>T)
c.2148-3C>T (n.2148-3C>T)
c.*167-3C>T (n.*167-3C>T)
n.612-3C>T
c.2388-3C>T (n.2388-3C>T)
c.1962-3C>T (n.1962-3C>T)
c.1986-3C>T (n.1986-3C>T)
n.2117-3C>T
c.2382-3C>T (n.2382-3C>T)
n.2562-3C>T
n.2542-3C>T
c.2034-3C>T (n.2034-3C>T)
n.2527-3C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3229014G=CA2346475276SLC4A11c.2019-3C= (n.2019-3C=)
c.1950-3C= (n.1950-3C=)
c.1890-3C= (n.1890-3C=)
c.1905-3C= (n.1905-3C=)
c.2067-3C= (n.2067-3C=)
c.2148-3C= (n.2148-3C=)
c.*167-3C= (n.*167-3C=)
n.612-3C=
c.2388-3C= (n.2388-3C=)
c.1962-3C= (n.1962-3C=)
c.1986-3C= (n.1986-3C=)
n.2117-3C=
c.2382-3C= (n.2382-3C=)
n.2562-3C=
n.2542-3C=
c.2034-3C= (n.2034-3C=)
n.2527-3C=
20g.3229015C>ACA2346475278SLC4A11c.2019-4G>T (n.2019-4G>T)
c.1950-4G>T (n.1950-4G>T)
c.1890-4G>T (n.1890-4G>T)
c.1905-4G>T (n.1905-4G>T)
c.2067-4G>T (n.2067-4G>T)
c.2148-4G>T (n.2148-4G>T)
c.*167-4G>T (n.*167-4G>T)
n.612-4G>T
c.2388-4G>T (n.2388-4G>T)
c.1962-4G>T (n.1962-4G>T)
c.1986-4G>T (n.1986-4G>T)
n.2117-4G>T
c.2382-4G>T (n.2382-4G>T)
n.2562-4G>T
n.2542-4G>T
c.2034-4G>T (n.2034-4G>T)
n.2527-4G>T
 ClinVar dbSNP gnomAD v4
20g.3229015C=CA2346475279SLC4A11c.2019-4G= (n.2019-4G=)
c.1950-4G= (n.1950-4G=)
c.1890-4G= (n.1890-4G=)
c.1905-4G= (n.1905-4G=)
c.2067-4G= (n.2067-4G=)
c.2148-4G= (n.2148-4G=)
c.*167-4G= (n.*167-4G=)
n.612-4G=
c.2388-4G= (n.2388-4G=)
c.1962-4G= (n.1962-4G=)
c.1986-4G= (n.1986-4G=)
n.2117-4G=
c.2382-4G= (n.2382-4G=)
n.2562-4G=
n.2542-4G=
c.2034-4G= (n.2034-4G=)
n.2527-4G=
20g.3229015C>TCA2346475277SLC4A11c.2019-4G>A (n.2019-4G>A)
c.1950-4G>A (n.1950-4G>A)
c.1890-4G>A (n.1890-4G>A)
c.1905-4G>A (n.1905-4G>A)
c.2067-4G>A (n.2067-4G>A)
c.2148-4G>A (n.2148-4G>A)
c.*167-4G>A (n.*167-4G>A)
n.612-4G>A
c.2388-4G>A (n.2388-4G>A)
c.1962-4G>A (n.1962-4G>A)
c.1986-4G>A (n.1986-4G>A)
n.2117-4G>A
c.2382-4G>A (n.2382-4G>A)
n.2562-4G>A
n.2542-4G>A
c.2034-4G>A (n.2034-4G>A)
n.2527-4G>A
 ClinVar dbSNP gnomAD v4
20g.3229015_3229016delinsCACA2346475280SLC4A11c.2019-5_2019-4delinsTG (n.2019-5_2019-4delinsTG)
c.1950-5_1950-4delinsTG (n.1950-5_1950-4delinsTG)
c.1890-5_1890-4delinsTG (n.1890-5_1890-4delinsTG)
c.1905-5_1905-4delinsTG (n.1905-5_1905-4delinsTG)
c.2067-5_2067-4delinsTG (n.2067-5_2067-4delinsTG)
c.2148-5_2148-4delinsTG (n.2148-5_2148-4delinsTG)
c.*167-5_*167-4delinsTG (n.*167-5_*167-4delinsTG)
n.612-5_612-4delinsTG
c.2388-5_2388-4delinsTG (n.2388-5_2388-4delinsTG)
c.1962-5_1962-4delinsTG (n.1962-5_1962-4delinsTG)
c.1986-5_1986-4delinsTG (n.1986-5_1986-4delinsTG)
n.2117-5_2117-4delinsTG
c.2382-5_2382-4delinsTG (n.2382-5_2382-4delinsTG)
n.2562-5_2562-4delinsTG
n.2542-5_2542-4delinsTG
c.2034-5_2034-4delinsTG (n.2034-5_2034-4delinsTG)
n.2527-5_2527-4delinsTG
20g.3229016delCA9741605SLC4A11c.2019-5del (n.2019-5del)
c.1950-5del (n.1950-5del)
c.1890-5del (n.1890-5del)
c.1905-5del (n.1905-5del)
c.2067-5del (n.2067-5del)
c.2148-5del (n.2148-5del)
c.*167-5del (n.*167-5del)
n.612-5del
c.2388-5del (n.2388-5del)
c.1962-5del (n.1962-5del)
c.1986-5del (n.1986-5del)
n.2117-5del
c.2382-5del (n.2382-5del)
n.2562-5del
n.2542-5del
c.2034-5del (n.2034-5del)
n.2527-5del
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3229016_3229027delinsAGCAGACGGGCACA2346475281SLC4A11c.2019-16_2019-5delinsTGCCCGTCTGCT (n.2019-16_2019-5delinsTGCCCGTCTGCT)
c.1950-16_1950-5delinsTGCCCGTCTGCT (n.1950-16_1950-5delinsTGCCCGTCTGCT)
c.1890-16_1890-5delinsTGCCCGTCTGCT (n.1890-16_1890-5delinsTGCCCGTCTGCT)
c.1905-16_1905-5delinsTGCCCGTCTGCT (n.1905-16_1905-5delinsTGCCCGTCTGCT)
c.2067-16_2067-5delinsTGCCCGTCTGCT (n.2067-16_2067-5delinsTGCCCGTCTGCT)
c.2148-16_2148-5delinsTGCCCGTCTGCT (n.2148-16_2148-5delinsTGCCCGTCTGCT)
c.*167-16_*167-5delinsTGCCCGTCTGCT (n.*167-16_*167-5delinsTGCCCGTCTGCT)
n.612-16_612-5delinsTGCCCGTCTGCT
c.2388-16_2388-5delinsTGCCCGTCTGCT (n.2388-16_2388-5delinsTGCCCGTCTGCT)
c.1962-16_1962-5delinsTGCCCGTCTGCT (n.1962-16_1962-5delinsTGCCCGTCTGCT)
c.1986-16_1986-5delinsTGCCCGTCTGCT (n.1986-16_1986-5delinsTGCCCGTCTGCT)
n.2117-16_2117-5delinsTGCCCGTCTGCT
c.2382-16_2382-5delinsTGCCCGTCTGCT (n.2382-16_2382-5delinsTGCCCGTCTGCT)
n.2562-16_2562-5delinsTGCCCGTCTGCT
n.2542-16_2542-5delinsTGCCCGTCTGCT
c.2034-16_2034-5delinsTGCCCGTCTGCT (n.2034-16_2034-5delinsTGCCCGTCTGCT)
n.2527-16_2527-5delinsTGCCCGTCTGCT
20g.3229017G>ACA2695229233SLC4A11c.2019-6C>T (n.2019-6C>T)
c.1950-6C>T (n.1950-6C>T)
c.1890-6C>T (n.1890-6C>T)
c.1905-6C>T (n.1905-6C>T)
c.2067-6C>T (n.2067-6C>T)
c.2148-6C>T (n.2148-6C>T)
c.*167-6C>T (n.*167-6C>T)
n.612-6C>T
c.2388-6C>T (n.2388-6C>T)
c.1962-6C>T (n.1962-6C>T)
c.1986-6C>T (n.1986-6C>T)
n.2117-6C>T
c.2382-6C>T (n.2382-6C>T)
n.2562-6C>T
n.2542-6C>T
c.2034-6C>T (n.2034-6C>T)
n.2527-6C>T
20g.3229017G>TCA2651691267SLC4A11c.2019-6C>A (n.2019-6C>A)
c.1950-6C>A (n.1950-6C>A)
c.1890-6C>A (n.1890-6C>A)
c.1905-6C>A (n.1905-6C>A)
c.2067-6C>A (n.2067-6C>A)
c.2148-6C>A (n.2148-6C>A)
c.*167-6C>A (n.*167-6C>A)
n.612-6C>A
c.2388-6C>A (n.2388-6C>A)
c.1962-6C>A (n.1962-6C>A)
c.1986-6C>A (n.1986-6C>A)
n.2117-6C>A
c.2382-6C>A (n.2382-6C>A)
n.2562-6C>A
n.2542-6C>A
c.2034-6C>A (n.2034-6C>A)
n.2527-6C>A
 gnomAD v4
20g.3229017_3229027delinsCCGGCCGGCCCA354154SLC4A11c.2019-16_2019-6delinsGGCCGGCCGG (n.2019-16_2019-6delinsGGCCGGCCGG)
c.1950-16_1950-6delinsGGCCGGCCGG (n.1950-16_1950-6delinsGGCCGGCCGG)
c.1890-16_1890-6delinsGGCCGGCCGG (n.1890-16_1890-6delinsGGCCGGCCGG)
c.1905-16_1905-6delinsGGCCGGCCGG (n.1905-16_1905-6delinsGGCCGGCCGG)
c.2067-16_2067-6delinsGGCCGGCCGG (n.2067-16_2067-6delinsGGCCGGCCGG)
c.2148-16_2148-6delinsGGCCGGCCGG (n.2148-16_2148-6delinsGGCCGGCCGG)
c.*167-16_*167-6delinsGGCCGGCCGG (n.*167-16_*167-6delinsGGCCGGCCGG)
n.612-16_612-6delinsGGCCGGCCGG
c.2388-16_2388-6delinsGGCCGGCCGG (n.2388-16_2388-6delinsGGCCGGCCGG)
c.1962-16_1962-6delinsGGCCGGCCGG (n.1962-16_1962-6delinsGGCCGGCCGG)
c.1986-16_1986-6delinsGGCCGGCCGG (n.1986-16_1986-6delinsGGCCGGCCGG)
n.2117-16_2117-6delinsGGCCGGCCGG
c.2382-16_2382-6delinsGGCCGGCCGG (n.2382-16_2382-6delinsGGCCGGCCGG)
n.2562-16_2562-6delinsGGCCGGCCGG
n.2542-16_2542-6delinsGGCCGGCCGG
c.2034-16_2034-6delinsGGCCGGCCGG (n.2034-16_2034-6delinsGGCCGGCCGG)
n.2527-16_2527-6delinsGGCCGGCCGG
 ClinVar dbSNP

Number of alleles fetched