Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44254457_44254478delCA2638191116SLC4A1c.2057+21_2057+42del (n.2057+21_2057+42del)
c.959+21_959+42del (n.959+21_959+42del)
c.1862+21_1862+42del (n.1862+21_1862+42del)
c.1967+21_1967+42del (n.1967+21_1967+42del)
 gnomAD v4
17g.44254462_44254469delCA2576289169SLC4A1c.2057+34_2057+41del (n.2057+34_2057+41del)
c.959+34_959+41del (n.959+34_959+41del)
c.1862+34_1862+41del (n.1862+34_1862+41del)
c.1967+34_1967+41del (n.1967+34_1967+41del)
 gnomAD v4
17g.44254457_44254474delCA2638191123SLC4A1c.2057+24_2057+41del (n.2057+24_2057+41del)
c.959+24_959+41del (n.959+24_959+41del)
c.1862+24_1862+41del (n.1862+24_1862+41del)
c.1967+24_1967+41del (n.1967+24_1967+41del)
 gnomAD v4
17g.44254461_44254464delCA2638191145SLC4A1c.2057+35_2057+38del (n.2057+35_2057+38del)
c.959+35_959+38del (n.959+35_959+38del)
c.1862+35_1862+38del (n.1862+35_1862+38del)
c.1967+35_1967+38del (n.1967+35_1967+38del)
 gnomAD v4
17g.44254458_44254470delCA2638191146SLC4A1c.2057+26_2057+38del (n.2057+26_2057+38del)
c.959+26_959+38del (n.959+26_959+38del)
c.1862+26_1862+38del (n.1862+26_1862+38del)
c.1967+26_1967+38del (n.1967+26_1967+38del)
 gnomAD v4
17g.44254466_44254486delCA2638191147SLC4A1c.2057+18_2057+38del (n.2057+18_2057+38del)
c.959+18_959+38del (n.959+18_959+38del)
c.1862+18_1862+38del (n.1862+18_1862+38del)
c.1967+18_1967+38del (n.1967+18_1967+38del)
 gnomAD v4
17g.44254461_44254477delCA2638191164SLC4A1c.2057+20_2057+36del (n.2057+20_2057+36del)
c.959+20_959+36del (n.959+20_959+36del)
c.1862+20_1862+36del (n.1862+20_1862+36del)
c.1967+20_1967+36del (n.1967+20_1967+36del)
 gnomAD v4
17g.44254461delCA2638191171SLC4A1c.2057+35del (n.2057+35del)
c.959+35del (n.959+35del)
c.1862+35del (n.1862+35del)
c.1967+35del (n.1967+35del)
 gnomAD v4
17g.44254461A=CA2261308229SLC4A1c.2057+35T= (n.2057+35T=)
c.959+35T= (n.959+35T=)
c.1862+35T= (n.1862+35T=)
c.1967+35T= (n.1967+35T=)
17g.44254461A>CCA772278768SLC4A1c.2057+35T>G (n.2057+35T>G)
c.959+35T>G (n.959+35T>G)
c.1862+35T>G (n.1862+35T>G)
c.1967+35T>G (n.1967+35T>G)
 dbSNP gnomAD v3 gnomAD v4
17g.44254461A>GCA2638191167SLC4A1c.2057+35T>C (n.2057+35T>C)
c.959+35T>C (n.959+35T>C)
c.1862+35T>C (n.1862+35T>C)
c.1967+35T>C (n.1967+35T>C)
 gnomAD v4
17g.44254461A>TCA2638191166SLC4A1c.2057+35T>A (n.2057+35T>A)
c.959+35T>A (n.959+35T>A)
c.1862+35T>A (n.1862+35T>A)
c.1967+35T>A (n.1967+35T>A)
 gnomAD v4
17g.44254461dupCA2638191174SLC4A1c.2057+35dup (n.2057+35dup)
c.959+35dup (n.959+35dup)
c.1862+35dup (n.1862+35dup)
c.1967+35dup (n.1967+35dup)
 gnomAD v4
17g.44254461_44254465delCA2638191169SLC4A1c.2057+31_2057+35del (n.2057+31_2057+35del)
c.959+31_959+35del (n.959+31_959+35del)
c.1862+31_1862+35del (n.1862+31_1862+35del)
c.1967+31_1967+35del (n.1967+31_1967+35del)
 gnomAD v4
17g.44254461_44254476delCA2638191168SLC4A1c.2057+20_2057+35del (n.2057+20_2057+35del)
c.959+20_959+35del (n.959+20_959+35del)
c.1862+20_1862+35del (n.1862+20_1862+35del)
c.1967+20_1967+35del (n.1967+20_1967+35del)
 gnomAD v4
17g.44254461_44254462insGCA2638191180SLC4A1c.2057+34_2057+35insC (n.2057+34_2057+35insC)
c.959+34_959+35insC (n.959+34_959+35insC)
c.1862+34_1862+35insC (n.1862+34_1862+35insC)
c.1967+34_1967+35insC (n.1967+34_1967+35insC)
 gnomAD v4
17g.44254461_44254462insACCA2638191189SLC4A1c.2057+34_2057+35insGT (n.2057+34_2057+35insGT)
c.959+34_959+35insGT (n.959+34_959+35insGT)
c.1862+34_1862+35insGT (n.1862+34_1862+35insGT)
c.1967+34_1967+35insGT (n.1967+34_1967+35insGT)
 gnomAD v4
17g.44254461_44254462insACCAACCA2638191190SLC4A1c.2057+34_2057+35insGTTGGT (n.2057+34_2057+35insGTTGGT)
c.959+34_959+35insGTTGGT (n.959+34_959+35insGTTGGT)
c.1862+34_1862+35insGTTGGT (n.1862+34_1862+35insGTTGGT)
c.1967+34_1967+35insGTTGGT (n.1967+34_1967+35insGTTGGT)
 gnomAD v4
17g.44254461_44254462insACCCCGCA2638191191SLC4A1c.2057+34_2057+35insCGGGGT (n.2057+34_2057+35insCGGGGT)
c.959+34_959+35insCGGGGT (n.959+34_959+35insCGGGGT)
c.1862+34_1862+35insCGGGGT (n.1862+34_1862+35insCGGGGT)
c.1967+34_1967+35insCGGGGT (n.1967+34_1967+35insCGGGGT)
 gnomAD v4
17g.44254461_44254462insACCCCGCCCCCCCCA2638191192SLC4A1c.2057+34_2057+35insGGGGGGGCGGGGT (n.2057+34_2057+35insGGGGGGGCGGGGT)
c.959+34_959+35insGGGGGGGCGGGGT (n.959+34_959+35insGGGGGGGCGGGGT)
c.1862+34_1862+35insGGGGGGGCGGGGT (n.1862+34_1862+35insGGGGGGGCGGGGT)
c.1967+34_1967+35insGGGGGGGCGGGGT (n.1967+34_1967+35insGGGGGGGCGGGGT)
 gnomAD v4
17g.44254461_44254462insACCCCGGCCCCCCCA2638191195SLC4A1c.2057+34_2057+35insGGGGGGCCGGGGT (n.2057+34_2057+35insGGGGGGCCGGGGT)
c.959+34_959+35insGGGGGGCCGGGGT (n.959+34_959+35insGGGGGGCCGGGGT)
c.1862+34_1862+35insGGGGGGCCGGGGT (n.1862+34_1862+35insGGGGGGCCGGGGT)
c.1967+34_1967+35insGGGGGGCCGGGGT (n.1967+34_1967+35insGGGGGGCCGGGGT)
 gnomAD v4
17g.44254461_44254462insACCCCGCCCCCCCCCA2638191193SLC4A1c.2057+34_2057+35insGGGGGGGGCGGGGT (n.2057+34_2057+35insGGGGGGGGCGGGGT)
c.959+34_959+35insGGGGGGGGCGGGGT (n.959+34_959+35insGGGGGGGGCGGGGT)
c.1862+34_1862+35insGGGGGGGGCGGGGT (n.1862+34_1862+35insGGGGGGGGCGGGGT)
c.1967+34_1967+35insGGGGGGGGCGGGGT (n.1967+34_1967+35insGGGGGGGGCGGGGT)
 gnomAD v4
17g.44254461_44254462insACCCCGCCCCCCCCCCCCA2638191194SLC4A1c.2057+34_2057+35insGGGGGGGGGGGCGGGGT (n.2057+34_2057+35insGGGGGGGGGGGCGGGGT)
c.959+34_959+35insGGGGGGGGGGGCGGGGT (n.959+34_959+35insGGGGGGGGGGGCGGGGT)
c.1862+34_1862+35insGGGGGGGGGGGCGGGGT (n.1862+34_1862+35insGGGGGGGGGGGCGGGGT)
c.1967+34_1967+35insGGGGGGGGGGGCGGGGT (n.1967+34_1967+35insGGGGGGGGGGGCGGGGT)
 gnomAD v4
17g.44254462C>ACA2638191185SLC4A1c.2057+34G>T (n.2057+34G>T)
c.959+34G>T (n.959+34G>T)
c.1862+34G>T (n.1862+34G>T)
c.1967+34G>T (n.1967+34G>T)
 gnomAD v4
17g.44254462C>GCA2638191186SLC4A1c.2057+34G>C (n.2057+34G>C)
c.959+34G>C (n.959+34G>C)
c.1862+34G>C (n.1862+34G>C)
c.1967+34G>C (n.1967+34G>C)
 gnomAD v4
17g.44254462C>TCA2638191187SLC4A1c.2057+34G>A (n.2057+34G>A)
c.959+34G>A (n.959+34G>A)
c.1862+34G>A (n.1862+34G>A)
c.1967+34G>A (n.1967+34G>A)
 gnomAD v4
17g.44254464_44254465insCCCCCA2638191175SLC4A1c.2057+34_2057+35insGGGG (n.2057+34_2057+35insGGGG)
c.959+34_959+35insGGGG (n.959+34_959+35insGGGG)
c.1862+34_1862+35insGGGG (n.1862+34_1862+35insGGGG)
c.1967+34_1967+35insGGGG (n.1967+34_1967+35insGGGG)
 gnomAD v4
17g.44254464_44254465insAACCCCCA2638191203SLC4A1c.2057+34_2057+35insGTTGGG (n.2057+34_2057+35insGTTGGG)
c.959+34_959+35insGTTGGG (n.959+34_959+35insGTTGGG)
c.1862+34_1862+35insGTTGGG (n.1862+34_1862+35insGTTGGG)
c.1967+34_1967+35insGTTGGG (n.1967+34_1967+35insGTTGGG)
 gnomAD v4
17g.44254464_44254465insCGCCCCCCCCCCCA2638191179SLC4A1c.2057+34_2057+35insGGGGGGGCGGGG (n.2057+34_2057+35insGGGGGGGCGGGG)
c.959+34_959+35insGGGGGGGCGGGG (n.959+34_959+35insGGGGGGGCGGGG)
c.1862+34_1862+35insGGGGGGGCGGGG (n.1862+34_1862+35insGGGGGGGCGGGG)
c.1967+34_1967+35insGGGGGGGCGGGG (n.1967+34_1967+35insGGGGGGGCGGGG)
 gnomAD v4
17g.44254464_44254465insCCGCCCCCCCCCCCA2638191177SLC4A1c.2057+34_2057+35insGGGGGGGCGGGGG (n.2057+34_2057+35insGGGGGGGCGGGGG)
c.959+34_959+35insGGGGGGGCGGGGG (n.959+34_959+35insGGGGGGGCGGGGG)
c.1862+34_1862+35insGGGGGGGCGGGGG (n.1862+34_1862+35insGGGGGGGCGGGGG)
c.1967+34_1967+35insGGGGGGGCGGGGG (n.1967+34_1967+35insGGGGGGGCGGGGG)
 gnomAD v4
17g.44254464_44254465insCGGCCCCCCCCCCCA2638191176SLC4A1c.2057+34_2057+35insGGGGGGGCCGGGG (n.2057+34_2057+35insGGGGGGGCCGGGG)
c.959+34_959+35insGGGGGGGCCGGGG (n.959+34_959+35insGGGGGGGCCGGGG)
c.1862+34_1862+35insGGGGGGGCCGGGG (n.1862+34_1862+35insGGGGGGGCCGGGG)
c.1967+34_1967+35insGGGGGGGCCGGGG (n.1967+34_1967+35insGGGGGGGCCGGGG)
 gnomAD v4
17g.44254464_44254465insAACCACGCCCACCCCCCCA2638191197SLC4A1c.2057+34_2057+35insGGGTGGGCGTGGTTGGG (n.2057+34_2057+35insGGGTGGGCGTGGTTGGG)
c.959+34_959+35insGGGTGGGCGTGGTTGGG (n.959+34_959+35insGGGTGGGCGTGGTTGGG)
c.1862+34_1862+35insGGGTGGGCGTGGTTGGG (n.1862+34_1862+35insGGGTGGGCGTGGTTGGG)
c.1967+34_1967+35insGGGTGGGCGTGGTTGGG (n.1967+34_1967+35insGGGTGGGCGTGGTTGGG)
 gnomAD v4
17g.44254464_44254465insAACCCCGCCCCCCCCCCCA2638191198SLC4A1c.2057+34_2057+35insGGGGGGGCGGGGTTGGG (n.2057+34_2057+35insGGGGGGGCGGGGTTGGG)
c.959+34_959+35insGGGGGGGCGGGGTTGGG (n.959+34_959+35insGGGGGGGCGGGGTTGGG)
c.1862+34_1862+35insGGGGGGGCGGGGTTGGG (n.1862+34_1862+35insGGGGGGGCGGGGTTGGG)
c.1967+34_1967+35insGGGGGGGCGGGGTTGGG (n.1967+34_1967+35insGGGGGGGCGGGGTTGGG)
 gnomAD v4
17g.44254464_44254465insACCCCCGCCCACCCCCCCA2638191199SLC4A1c.2057+34_2057+35insGGGTGGGCGGGGGTGGG (n.2057+34_2057+35insGGGTGGGCGGGGGTGGG)
c.959+34_959+35insGGGTGGGCGGGGGTGGG (n.959+34_959+35insGGGTGGGCGGGGGTGGG)
c.1862+34_1862+35insGGGTGGGCGGGGGTGGG (n.1862+34_1862+35insGGGTGGGCGGGGGTGGG)
c.1967+34_1967+35insGGGTGGGCGGGGGTGGG (n.1967+34_1967+35insGGGTGGGCGGGGGTGGG)
 gnomAD v4
17g.44254464_44254465insACCCCCGCCCCCCCCCCCA2638191201SLC4A1c.2057+34_2057+35insGGGGGGGCGGGGGTGGG (n.2057+34_2057+35insGGGGGGGCGGGGGTGGG)
c.959+34_959+35insGGGGGGGCGGGGGTGGG (n.959+34_959+35insGGGGGGGCGGGGGTGGG)
c.1862+34_1862+35insGGGGGGGCGGGGGTGGG (n.1862+34_1862+35insGGGGGGGCGGGGGTGGG)
c.1967+34_1967+35insGGGGGGGCGGGGGTGGG (n.1967+34_1967+35insGGGGGGGCGGGGGTGGG)
 gnomAD v4
17g.44254464_44254465insCCGCCCCCCCCCCCCCCCA2638191178SLC4A1c.2057+34_2057+35insGGGGGGGGGGGCGGGGG (n.2057+34_2057+35insGGGGGGGGGGGCGGGGG)
c.959+34_959+35insGGGGGGGGGGGCGGGGG (n.959+34_959+35insGGGGGGGGGGGCGGGGG)
c.1862+34_1862+35insGGGGGGGGGGGCGGGGG (n.1862+34_1862+35insGGGGGGGGGGGCGGGGG)
c.1967+34_1967+35insGGGGGGGGGGGCGGGGG (n.1967+34_1967+35insGGGGGGGGGGGCGGGGG)
 gnomAD v4
17g.44254464_44254465insACCCCCGGCCCCCCCCCCCCA2638191188SLC4A1c.2057+34_2057+35insGGGGGGGGCCGGGGGTGGG (n.2057+34_2057+35insGGGGGGGGCCGGGGGTGGG)
c.959+34_959+35insGGGGGGGGCCGGGGGTGGG (n.959+34_959+35insGGGGGGGGCCGGGGGTGGG)
c.1862+34_1862+35insGGGGGGGGCCGGGGGTGGG (n.1862+34_1862+35insGGGGGGGGCCGGGGGTGGG)
c.1967+34_1967+35insGGGGGGGGCCGGGGGTGGG (n.1967+34_1967+35insGGGGGGGGCCGGGGGTGGG)
 gnomAD v4
17g.44254464_44254465insACCCCGGCCCCCCCCCCCCCCCA2638191200SLC4A1c.2057+34_2057+35insGGGGGGGGGGGCCGGGGTGGG (n.2057+34_2057+35insGGGGGGGGGGGCCGGGGTGGG)
c.959+34_959+35insGGGGGGGGGGGCCGGGGTGGG (n.959+34_959+35insGGGGGGGGGGGCCGGGGTGGG)
c.1862+34_1862+35insGGGGGGGGGGGCCGGGGTGGG (n.1862+34_1862+35insGGGGGGGGGGGCCGGGGTGGG)
c.1967+34_1967+35insGGGGGGGGGGGCCGGGGTGGG (n.1967+34_1967+35insGGGGGGGGGGGCCGGGGTGGG)
 gnomAD v4
17g.44254464_44254465insAACCCCGCCCACCCCCCCCCCCA2809585924SLC4A1c.2057+34_2057+35insGGGGGGGTGGGCGGGGTTGGG (n.2057+34_2057+35insGGGGGGGTGGGCGGGGTTGGG)
c.959+34_959+35insGGGGGGGTGGGCGGGGTTGGG (n.959+34_959+35insGGGGGGGTGGGCGGGGTTGGG)
c.1862+34_1862+35insGGGGGGGTGGGCGGGGTTGGG (n.1862+34_1862+35insGGGGGGGTGGGCGGGGTTGGG)
c.1967+34_1967+35insGGGGGGGTGGGCGGGGTTGGG (n.1967+34_1967+35insGGGGGGGTGGGCGGGGTTGGG)
17g.44254464_44254465insACCCCCGCCCCCCCCCCCCCCCA2638191202SLC4A1c.2057+34_2057+35insGGGGGGGGGGGCGGGGGTGGG (n.2057+34_2057+35insGGGGGGGGGGGCGGGGGTGGG)
c.959+34_959+35insGGGGGGGGGGGCGGGGGTGGG (n.959+34_959+35insGGGGGGGGGGGCGGGGGTGGG)
c.1862+34_1862+35insGGGGGGGGGGGCGGGGGTGGG (n.1862+34_1862+35insGGGGGGGGGGGCGGGGGTGGG)
c.1967+34_1967+35insGGGGGGGGGGGCGGGGGTGGG (n.1967+34_1967+35insGGGGGGGGGGGCGGGGGTGGG)
 gnomAD v4
17g.44254464dupCA2638191196SLC4A1c.2057+34dup (n.2057+34dup)
c.959+34dup (n.959+34dup)
c.1862+34dup (n.1862+34dup)
c.1967+34dup (n.1967+34dup)
 gnomAD v4
17g.44254464delCA2638191181SLC4A1c.2057+34del (n.2057+34del)
c.959+34del (n.959+34del)
c.1862+34del (n.1862+34del)
c.1967+34del (n.1967+34del)
 gnomAD v4
17g.44254465_44254468delCA2638191182SLC4A1c.2057+31_2057+34del (n.2057+31_2057+34del)
c.959+31_959+34del (n.959+31_959+34del)
c.1862+31_1862+34del (n.1862+31_1862+34del)
c.1967+31_1967+34del (n.1967+31_1967+34del)
 gnomAD v4
17g.44254465_44254474delCA2638191183SLC4A1c.2057+25_2057+34del (n.2057+25_2057+34del)
c.959+25_959+34del (n.959+25_959+34del)
c.1862+25_1862+34del (n.1862+25_1862+34del)
c.1967+25_1967+34del (n.1967+25_1967+34del)
 gnomAD v4
17g.44254465_44254480delCA2638191184SLC4A1c.2057+19_2057+34del (n.2057+19_2057+34del)
c.959+19_959+34del (n.959+19_959+34del)
c.1862+19_1862+34del (n.1862+19_1862+34del)
c.1967+19_1967+34del (n.1967+19_1967+34del)
 gnomAD v4
17g.44254463C>ACA2638191206SLC4A1c.2057+33G>T (n.2057+33G>T)
c.959+33G>T (n.959+33G>T)
c.1862+33G>T (n.1862+33G>T)
c.1967+33G>T (n.1967+33G>T)
 gnomAD v4
17g.44254463C>GCA2638191205SLC4A1c.2057+33G>C (n.2057+33G>C)
c.959+33G>C (n.959+33G>C)
c.1862+33G>C (n.1862+33G>C)
c.1967+33G>C (n.1967+33G>C)
 gnomAD v4
17g.44254463C>TCA2576289178SLC4A1c.2057+33G>A (n.2057+33G>A)
c.959+33G>A (n.959+33G>A)
c.1862+33G>A (n.1862+33G>A)
c.1967+33G>A (n.1967+33G>A)
 gnomAD v4
17g.44254464_44254465insCGCCCA2638191208SLC4A1c.2057+33_2057+34insCGGG (n.2057+33_2057+34insCGGG)
c.959+33_959+34insCGGG (n.959+33_959+34insCGGG)
c.1862+33_1862+34insCGGG (n.1862+33_1862+34insCGGG)
c.1967+33_1967+34insCGGG (n.1967+33_1967+34insCGGG)
 gnomAD v4
17g.44254464_44254465insAACCCCGCCCA2638191209SLC4A1c.2057+33_2057+34insCGGGGTTGG (n.2057+33_2057+34insCGGGGTTGG)
c.959+33_959+34insCGGGGTTGG (n.959+33_959+34insCGGGGTTGG)
c.1862+33_1862+34insCGGGGTTGG (n.1862+33_1862+34insCGGGGTTGG)
c.1967+33_1967+34insCGGGGTTGG (n.1967+33_1967+34insCGGGGTTGG)
 gnomAD v4
17g.44254465_44254467delCA2638191204SLC4A1c.2057+31_2057+33del (n.2057+31_2057+33del)
c.959+31_959+33del (n.959+31_959+33del)
c.1862+31_1862+33del (n.1862+31_1862+33del)
c.1967+31_1967+33del (n.1967+31_1967+33del)
 gnomAD v4
17g.44254465_44254473delCA2638191207SLC4A1c.2057+25_2057+33del (n.2057+25_2057+33del)
c.959+25_959+33del (n.959+25_959+33del)
c.1862+25_1862+33del (n.1862+25_1862+33del)
c.1967+25_1967+33del (n.1967+25_1967+33del)
 gnomAD v4
17g.44254463_44254464insACA2638191210SLC4A1c.2057+32_2057+33insT (n.2057+32_2057+33insT)
c.959+32_959+33insT (n.959+32_959+33insT)
c.1862+32_1862+33insT (n.1862+32_1862+33insT)
c.1967+32_1967+33insT (n.1967+32_1967+33insT)
 gnomAD v4
17g.44254464C>ACA2521307086SLC4A1c.2057+32G>T (n.2057+32G>T)
c.959+32G>T (n.959+32G>T)
c.1862+32G>T (n.1862+32G>T)
c.1967+32G>T (n.1967+32G>T)
 gnomAD v4
17g.44254464C=CA2261308230SLC4A1c.2057+32G= (n.2057+32G=)
c.959+32G= (n.959+32G=)
c.1862+32G= (n.1862+32G=)
c.1967+32G= (n.1967+32G=)
17g.44254464C>GCA2638191211SLC4A1c.2057+32G>C (n.2057+32G>C)
c.959+32G>C (n.959+32G>C)
c.1862+32G>C (n.1862+32G>C)
c.1967+32G>C (n.1967+32G>C)
 gnomAD v4
17g.44254464C>TCA626124714SLC4A1c.2057+32G>A (n.2057+32G>A)
c.959+32G>A (n.959+32G>A)
c.1862+32G>A (n.1862+32G>A)
c.1967+32G>A (n.1967+32G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.44254465_44254466delCA2638191214SLC4A1c.2057+31_2057+32del (n.2057+31_2057+32del)
c.959+31_959+32del (n.959+31_959+32del)
c.1862+31_1862+32del (n.1862+31_1862+32del)
c.1967+31_1967+32del (n.1967+31_1967+32del)
 gnomAD v4
17g.44254465_44254472delCA2638191213SLC4A1c.2057+25_2057+32del (n.2057+25_2057+32del)
c.959+25_959+32del (n.959+25_959+32del)
c.1862+25_1862+32del (n.1862+25_1862+32del)
c.1967+25_1967+32del (n.1967+25_1967+32del)
 gnomAD v4
17g.44254465_44254477delCA2638191212SLC4A1c.2057+20_2057+32del (n.2057+20_2057+32del)
c.959+20_959+32del (n.959+20_959+32del)
c.1862+20_1862+32del (n.1862+20_1862+32del)
c.1967+20_1967+32del (n.1967+20_1967+32del)
 gnomAD v4
17g.44254464_44254465insACA2638191215SLC4A1c.2057+31_2057+32insT (n.2057+31_2057+32insT)
c.959+31_959+32insT (n.959+31_959+32insT)
c.1862+31_1862+32insT (n.1862+31_1862+32insT)
c.1967+31_1967+32insT (n.1967+31_1967+32insT)
 gnomAD v4
17g.44254464_44254465insAACA2594317018SLC4A1c.2057+31_2057+32insTT (n.2057+31_2057+32insTT)
c.959+31_959+32insTT (n.959+31_959+32insTT)
c.1862+31_1862+32insTT (n.1862+31_1862+32insTT)
c.1967+31_1967+32insTT (n.1967+31_1967+32insTT)
 gnomAD v3 gnomAD v4
17g.44254464_44254465insCACA2638191222SLC4A1c.2057+31_2057+32insTG (n.2057+31_2057+32insTG)
c.959+31_959+32insTG (n.959+31_959+32insTG)
c.1862+31_1862+32insTG (n.1862+31_1862+32insTG)
c.1967+31_1967+32insTG (n.1967+31_1967+32insTG)
 gnomAD v4
17g.44254464_44254465insCGCA2638191221SLC4A1c.2057+31_2057+32insCG (n.2057+31_2057+32insCG)
c.959+31_959+32insCG (n.959+31_959+32insCG)
c.1862+31_1862+32insCG (n.1862+31_1862+32insCG)
c.1967+31_1967+32insCG (n.1967+31_1967+32insCG)
 gnomAD v4
17g.44254464_44254465insGACA2638191226SLC4A1c.2057+31_2057+32insTC (n.2057+31_2057+32insTC)
c.959+31_959+32insTC (n.959+31_959+32insTC)
c.1862+31_1862+32insTC (n.1862+31_1862+32insTC)
c.1967+31_1967+32insTC (n.1967+31_1967+32insTC)
 gnomAD v4
17g.44254464_44254465insAACCCGCA2638191224SLC4A1c.2057+31_2057+32insCGGGTT (n.2057+31_2057+32insCGGGTT)
c.959+31_959+32insCGGGTT (n.959+31_959+32insCGGGTT)
c.1862+31_1862+32insCGGGTT (n.1862+31_1862+32insCGGGTT)
c.1967+31_1967+32insCGGGTT (n.1967+31_1967+32insCGGGTT)
 gnomAD v4
17g.44254464_44254465insAACCCCGCA2638191225SLC4A1c.2057+31_2057+32insCGGGGTT (n.2057+31_2057+32insCGGGGTT)
c.959+31_959+32insCGGGGTT (n.959+31_959+32insCGGGGTT)
c.1862+31_1862+32insCGGGGTT (n.1862+31_1862+32insCGGGGTT)
c.1967+31_1967+32insCGGGGTT (n.1967+31_1967+32insCGGGGTT)
 gnomAD v4
17g.44254464_44254465insACCCCCGCA2638191223SLC4A1c.2057+31_2057+32insCGGGGGT (n.2057+31_2057+32insCGGGGGT)
c.959+31_959+32insCGGGGGT (n.959+31_959+32insCGGGGGT)
c.1862+31_1862+32insCGGGGGT (n.1862+31_1862+32insCGGGGGT)
c.1967+31_1967+32insCGGGGGT (n.1967+31_1967+32insCGGGGGT)
 gnomAD v4
17g.44254465delCA2638191220SLC4A1c.2057+31del (n.2057+31del)
c.959+31del (n.959+31del)
c.1862+31del (n.1862+31del)
c.1967+31del (n.1967+31del)
 gnomAD v4
17g.44254465T>ACA984004608SLC4A1c.2057+31A>T (n.2057+31A>T)
c.959+31A>T (n.959+31A>T)
c.1862+31A>T (n.1862+31A>T)
c.1967+31A>T (n.1967+31A>T)
 dbSNP gnomAD v3 gnomAD v4
17g.44254465T>CCA984004611SLC4A1c.2057+31A>G (n.2057+31A>G)
c.959+31A>G (n.959+31A>G)
c.1862+31A>G (n.1862+31A>G)
c.1967+31A>G (n.1967+31A>G)
 dbSNP gnomAD v3 gnomAD v4
17g.44254465T>GCA2638191216SLC4A1c.2057+31A>C (n.2057+31A>C)
c.959+31A>C (n.959+31A>C)
c.1862+31A>C (n.1862+31A>C)
c.1967+31A>C (n.1967+31A>C)
 gnomAD v4
17g.44254465T=CA2261308231SLC4A1c.2057+31A= (n.2057+31A=)
c.959+31A= (n.959+31A=)
c.1862+31A= (n.1862+31A=)
c.1967+31A= (n.1967+31A=)
17g.44254465_44254469delCA2638191219SLC4A1c.2057+27_2057+31del (n.2057+27_2057+31del)
c.959+27_959+31del (n.959+27_959+31del)
c.1862+27_1862+31del (n.1862+27_1862+31del)
c.1967+27_1967+31del (n.1967+27_1967+31del)
 gnomAD v4
17g.44254465_44254471delCA2638191218SLC4A1c.2057+25_2057+31del (n.2057+25_2057+31del)
c.959+25_959+31del (n.959+25_959+31del)
c.1862+25_1862+31del (n.1862+25_1862+31del)
c.1967+25_1967+31del (n.1967+25_1967+31del)
 gnomAD v4
17g.44254465_44254476delCA2638191217SLC4A1c.2057+20_2057+31del (n.2057+20_2057+31del)
c.959+20_959+31del (n.959+20_959+31del)
c.1862+20_1862+31del (n.1862+20_1862+31del)
c.1967+20_1967+31del (n.1967+20_1967+31del)
 gnomAD v4
17g.44254465_44254466insACA2638191230SLC4A1c.2057+30_2057+31insT (n.2057+30_2057+31insT)
c.959+30_959+31insT (n.959+30_959+31insT)
c.1862+30_1862+31insT (n.1862+30_1862+31insT)
c.1967+30_1967+31insT (n.1967+30_1967+31insT)
 gnomAD v4
17g.44254465_44254466insACCA2638191229SLC4A1c.2057+30_2057+31insGT (n.2057+30_2057+31insGT)
c.959+30_959+31insGT (n.959+30_959+31insGT)
c.1862+30_1862+31insGT (n.1862+30_1862+31insGT)
c.1967+30_1967+31insGT (n.1967+30_1967+31insGT)
 gnomAD v4
17g.44254466C>ACA626124715SLC4A1c.2057+30G>T (n.2057+30G>T)
c.959+30G>T (n.959+30G>T)
c.1862+30G>T (n.1862+30G>T)
c.1967+30G>T (n.1967+30G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44254466C=CA2261308232SLC4A1c.2057+30G= (n.2057+30G=)
c.959+30G= (n.959+30G=)
c.1862+30G= (n.1862+30G=)
c.1967+30G= (n.1967+30G=)
17g.44254466C>GCA2261308233SLC4A1c.2057+30G>C (n.2057+30G>C)
c.959+30G>C (n.959+30G>C)
c.1862+30G>C (n.1862+30G>C)
c.1967+30G>C (n.1967+30G>C)
 dbSNP gnomAD v4
17g.44254466C>TCA2576289179SLC4A1c.2057+30G>A (n.2057+30G>A)
c.959+30G>A (n.959+30G>A)
c.1862+30G>A (n.1862+30G>A)
c.1967+30G>A (n.1967+30G>A)
 gnomAD v4
17g.44254468dupCA2638191228SLC4A1c.2057+30dup (n.2057+30dup)
c.959+30dup (n.959+30dup)
c.1862+30dup (n.1862+30dup)
c.1967+30dup (n.1967+30dup)
 gnomAD v4
17g.44254468delCA2638191227SLC4A1c.2057+30del (n.2057+30del)
c.959+30del (n.959+30del)
c.1862+30del (n.1862+30del)
c.1967+30del (n.1967+30del)
 gnomAD v4
17g.44254467C>ACA2638191233SLC4A1c.2057+29G>T (n.2057+29G>T)
c.959+29G>T (n.959+29G>T)
c.1862+29G>T (n.1862+29G>T)
c.1967+29G>T (n.1967+29G>T)
 gnomAD v4
17g.44254467C=CA2261308234SLC4A1c.2057+29G= (n.2057+29G=)
c.959+29G= (n.959+29G=)
c.1862+29G= (n.1862+29G=)
c.1967+29G= (n.1967+29G=)
17g.44254467C>GCA8600135SLC4A1c.2057+29G>C (n.2057+29G>C)
c.959+29G>C (n.959+29G>C)
c.1862+29G>C (n.1862+29G>C)
c.1967+29G>C (n.1967+29G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254467C>TCA2638191234SLC4A1c.2057+29G>A (n.2057+29G>A)
c.959+29G>A (n.959+29G>A)
c.1862+29G>A (n.1862+29G>A)
c.1967+29G>A (n.1967+29G>A)
 gnomAD v4
17g.44254468_44254469insCCGGCCCCCCCCCCAACCCA2638191231SLC4A1c.2057+29_2057+30insTTGGGGGGGGGGCCGGGG (n.2057+29_2057+30insTTGGGGGGGGGGCCGGGG)
c.959+29_959+30insTTGGGGGGGGGGCCGGGG (n.959+29_959+30insTTGGGGGGGGGGCCGGGG)
c.1862+29_1862+30insTTGGGGGGGGGGCCGGGG (n.1862+29_1862+30insTTGGGGGGGGGGCCGGGG)
c.1967+29_1967+30insTTGGGGGGGGGGCCGGGG (n.1967+29_1967+30insTTGGGGGGGGGGCCGGGG)
 gnomAD v4
17g.44254469_44254473delCA2638191232SLC4A1c.2057+25_2057+29del (n.2057+25_2057+29del)
c.959+25_959+29del (n.959+25_959+29del)
c.1862+25_1862+29del (n.1862+25_1862+29del)
c.1967+25_1967+29del (n.1967+25_1967+29del)
 gnomAD v4
17g.44254468C>ACA2638191236SLC4A1c.2057+28G>T (n.2057+28G>T)
c.959+28G>T (n.959+28G>T)
c.1862+28G>T (n.1862+28G>T)
c.1967+28G>T (n.1967+28G>T)
 gnomAD v4
17g.44254468C=CA2261308235SLC4A1c.2057+28G= (n.2057+28G=)
c.959+28G= (n.959+28G=)
c.1862+28G= (n.1862+28G=)
c.1967+28G= (n.1967+28G=)
17g.44254468C>TCA626124716SLC4A1c.2057+28G>A (n.2057+28G>A)
c.959+28G>A (n.959+28G>A)
c.1862+28G>A (n.1862+28G>A)
c.1967+28G>A (n.1967+28G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44254468_44254469insCCGCCA2809585925SLC4A1c.2057+28_2057+29insCGGG (n.2057+28_2057+29insCGGG)
c.959+28_959+29insCGGG (n.959+28_959+29insCGGG)
c.1862+28_1862+29insCGGG (n.1862+28_1862+29insCGGG)
c.1967+28_1967+29insCGGG (n.1967+28_1967+29insCGGG)
17g.44254468_44254469delCA2638191238SLC4A1c.2057+27_2057+28del (n.2057+27_2057+28del)
c.959+27_959+28del (n.959+27_959+28del)
c.1862+27_1862+28del (n.1862+27_1862+28del)
c.1967+27_1967+28del (n.1967+27_1967+28del)
 gnomAD v4
17g.44254468_44254470delCA2638191235SLC4A1c.2057+26_2057+28del (n.2057+26_2057+28del)
c.959+26_959+28del (n.959+26_959+28del)
c.1862+26_1862+28del (n.1862+26_1862+28del)
c.1967+26_1967+28del (n.1967+26_1967+28del)
 gnomAD v4
17g.44254469_44254472delCA2638191237SLC4A1c.2057+25_2057+28del (n.2057+25_2057+28del)
c.959+25_959+28del (n.959+25_959+28del)
c.1862+25_1862+28del (n.1862+25_1862+28del)
c.1967+25_1967+28del (n.1967+25_1967+28del)
 gnomAD v4
17g.44254469_44254477delCA2638191239SLC4A1c.2057+20_2057+28del (n.2057+20_2057+28del)
c.959+20_959+28del (n.959+20_959+28del)
c.1862+20_1862+28del (n.1862+20_1862+28del)
c.1967+20_1967+28del (n.1967+20_1967+28del)
 gnomAD v4
17g.44254469delCA2638191240SLC4A1c.2057+27del (n.2057+27del)
c.959+27del (n.959+27del)
c.1862+27del (n.1862+27del)
c.1967+27del (n.1967+27del)
 gnomAD v4
17g.44254469A>CCA984004614SLC4A1c.2057+27T>G (n.2057+27T>G)
c.959+27T>G (n.959+27T>G)
c.1862+27T>G (n.1862+27T>G)
c.1967+27T>G (n.1967+27T>G)
 dbSNP gnomAD v3 gnomAD v4
17g.44254469A>GCA2638191242SLC4A1c.2057+27T>C (n.2057+27T>C)
c.959+27T>C (n.959+27T>C)
c.1862+27T>C (n.1862+27T>C)
c.1967+27T>C (n.1967+27T>C)
 gnomAD v4
17g.44254469_44254470delCA2594317019SLC4A1c.2057+26_2057+27del (n.2057+26_2057+27del)
c.959+26_959+27del (n.959+26_959+27del)
c.1862+26_1862+27del (n.1862+26_1862+27del)
c.1967+26_1967+27del (n.1967+26_1967+27del)
 gnomAD v3 gnomAD v4
17g.44254469_44254471delCA2594317020SLC4A1c.2057+25_2057+27del (n.2057+25_2057+27del)
c.959+25_959+27del (n.959+25_959+27del)
c.1862+25_1862+27del (n.1862+25_1862+27del)
c.1967+25_1967+27del (n.1967+25_1967+27del)
 gnomAD v3 gnomAD v4
17g.44254469_44254476delCA2638191241SLC4A1c.2057+20_2057+27del (n.2057+20_2057+27del)
c.959+20_959+27del (n.959+20_959+27del)
c.1862+20_1862+27del (n.1862+20_1862+27del)
c.1967+20_1967+27del (n.1967+20_1967+27del)
 gnomAD v4
17g.44254469_44254470insCCA2638191248SLC4A1c.2057+26_2057+27insG (n.2057+26_2057+27insG)
c.959+26_959+27insG (n.959+26_959+27insG)
c.1862+26_1862+27insG (n.1862+26_1862+27insG)
c.1967+26_1967+27insG (n.1967+26_1967+27insG)
 gnomAD v4
17g.44254469_44254470insACCCCA2638191250SLC4A1c.2057+26_2057+27insGGGT (n.2057+26_2057+27insGGGT)
c.959+26_959+27insGGGT (n.959+26_959+27insGGGT)
c.1862+26_1862+27insGGGT (n.1862+26_1862+27insGGGT)
c.1967+26_1967+27insGGGT (n.1967+26_1967+27insGGGT)
 gnomAD v4
17g.44254469_44254470insACCCCCA2638191251SLC4A1c.2057+26_2057+27insGGGGT (n.2057+26_2057+27insGGGGT)
c.959+26_959+27insGGGGT (n.959+26_959+27insGGGGT)
c.1862+26_1862+27insGGGGT (n.1862+26_1862+27insGGGGT)
c.1967+26_1967+27insGGGGT (n.1967+26_1967+27insGGGGT)
 gnomAD v4
17g.44254469_44254470insACCCGCA2638191249SLC4A1c.2057+26_2057+27insCGGGT (n.2057+26_2057+27insCGGGT)
c.959+26_959+27insCGGGT (n.959+26_959+27insCGGGT)
c.1862+26_1862+27insCGGGT (n.1862+26_1862+27insCGGGT)
c.1967+26_1967+27insCGGGT (n.1967+26_1967+27insCGGGT)
 gnomAD v4
17g.44254470G>ACA626124717SLC4A1c.2057+26C>T (n.2057+26C>T)
c.959+26C>T (n.959+26C>T)
c.1862+26C>T (n.1862+26C>T)
c.1967+26C>T (n.1967+26C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.44254470G>CCA984004616SLC4A1c.2057+26C>G (n.2057+26C>G)
c.959+26C>G (n.959+26C>G)
c.1862+26C>G (n.1862+26C>G)
c.1967+26C>G (n.1967+26C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.44254470G=CA2261308236SLC4A1c.2057+26C= (n.2057+26C=)
c.959+26C= (n.959+26C=)
c.1862+26C= (n.1862+26C=)
c.1967+26C= (n.1967+26C=)
17g.44254470G>TCA2638191243SLC4A1c.2057+26C>A (n.2057+26C>A)
c.959+26C>A (n.959+26C>A)
c.1862+26C>A (n.1862+26C>A)
c.1967+26C>A (n.1967+26C>A)
 gnomAD v4
17g.44254470_44254471delCA2638191252SLC4A1c.2057+25_2057+26del (n.2057+25_2057+26del)
c.959+25_959+26del (n.959+25_959+26del)
c.1862+25_1862+26del (n.1862+25_1862+26del)
c.1967+25_1967+26del (n.1967+25_1967+26del)
 gnomAD v4
17g.44254471delCA2638191247SLC4A1c.2057+26del (n.2057+26del)
c.959+26del (n.959+26del)
c.1862+26del (n.1862+26del)
c.1967+26del (n.1967+26del)
 gnomAD v4
17g.44254470_44254473delCA2638191246SLC4A1c.2057+23_2057+26del (n.2057+23_2057+26del)
c.959+23_959+26del (n.959+23_959+26del)
c.1862+23_1862+26del (n.1862+23_1862+26del)
c.1967+23_1967+26del (n.1967+23_1967+26del)
 gnomAD v4
17g.44254470_44254474delCA2638191245SLC4A1c.2057+22_2057+26del (n.2057+22_2057+26del)
c.959+22_959+26del (n.959+22_959+26del)
c.1862+22_1862+26del (n.1862+22_1862+26del)
c.1967+22_1967+26del (n.1967+22_1967+26del)
 gnomAD v4
17g.44254470_44254476delCA2638191244SLC4A1c.2057+20_2057+26del (n.2057+20_2057+26del)
c.959+20_959+26del (n.959+20_959+26del)
c.1862+20_1862+26del (n.1862+20_1862+26del)
c.1967+20_1967+26del (n.1967+20_1967+26del)
 gnomAD v4
17g.44254471G>ACA2638191253SLC4A1c.2057+25C>T (n.2057+25C>T)
c.959+25C>T (n.959+25C>T)
c.1862+25C>T (n.1862+25C>T)
c.1967+25C>T (n.1967+25C>T)
 gnomAD v4
17g.44254471G>CCA2638191254SLC4A1c.2057+25C>G (n.2057+25C>G)
c.959+25C>G (n.959+25C>G)
c.1862+25C>G (n.1862+25C>G)
c.1967+25C>G (n.1967+25C>G)
 gnomAD v4
17g.44254471G>TCA2638191255SLC4A1c.2057+25C>A (n.2057+25C>A)
c.959+25C>A (n.959+25C>A)
c.1862+25C>A (n.1862+25C>A)
c.1967+25C>A (n.1967+25C>A)
 gnomAD v4
17g.44254471_44254472delinsGCCA2261308237SLC4A1c.2057+24_2057+25delinsGC (n.2057+24_2057+25delinsGC)
c.959+24_959+25delinsGC (n.959+24_959+25delinsGC)
c.1862+24_1862+25delinsGC (n.1862+24_1862+25delinsGC)
c.1967+24_1967+25delinsGC (n.1967+24_1967+25delinsGC)
17g.44254471_44254472insGCCA2638191261SLC4A1c.2057+24_2057+25insGC (n.2057+24_2057+25insGC)
c.959+24_959+25insGC (n.959+24_959+25insGC)
c.1862+24_1862+25insGC (n.1862+24_1862+25insGC)
c.1967+24_1967+25insGC (n.1967+24_1967+25insGC)
 gnomAD v4
17g.44254471_44254472insGCCCA2638191256SLC4A1c.2057+24_2057+25insGGC (n.2057+24_2057+25insGGC)
c.959+24_959+25insGGC (n.959+24_959+25insGGC)
c.1862+24_1862+25insGGC (n.1862+24_1862+25insGGC)
c.1967+24_1967+25insGGC (n.1967+24_1967+25insGGC)
 gnomAD v4
17g.44254472C>ACA2638191258SLC4A1c.2057+24G>T (n.2057+24G>T)
c.959+24G>T (n.959+24G>T)
c.1862+24G>T (n.1862+24G>T)
c.1967+24G>T (n.1967+24G>T)
 gnomAD v4
17g.44254472C>GCA2576289180SLC4A1c.2057+24G>C (n.2057+24G>C)
c.959+24G>C (n.959+24G>C)
c.1862+24G>C (n.1862+24G>C)
c.1967+24G>C (n.1967+24G>C)
 gnomAD v4
17g.44254472C>TCA2638191257SLC4A1c.2057+24G>A (n.2057+24G>A)
c.959+24G>A (n.959+24G>A)
c.1862+24G>A (n.1862+24G>A)
c.1967+24G>A (n.1967+24G>A)
 gnomAD v4
17g.44254474_44254475insCCCCCA2638191264SLC4A1c.2057+24_2057+25insGGGG (n.2057+24_2057+25insGGGG)
c.959+24_959+25insGGGG (n.959+24_959+25insGGGG)
c.1862+24_1862+25insGGGG (n.1862+24_1862+25insGGGG)
c.1967+24_1967+25insGGGG (n.1967+24_1967+25insGGGG)
 gnomAD v4
17g.44254474_44254475insCCCCCCCCA2809585927SLC4A1c.2057+24_2057+25insGGGGGGG (n.2057+24_2057+25insGGGGGGG)
c.959+24_959+25insGGGGGGG (n.959+24_959+25insGGGGGGG)
c.1862+24_1862+25insGGGGGGG (n.1862+24_1862+25insGGGGGGG)
c.1967+24_1967+25insGGGGGGG (n.1967+24_1967+25insGGGGGGG)
17g.44254474_44254475insCCCCCCCCCCCCA2638191263SLC4A1c.2057+24_2057+25insGGGGGGGGGGG (n.2057+24_2057+25insGGGGGGGGGGG)
c.959+24_959+25insGGGGGGGGGGG (n.959+24_959+25insGGGGGGGGGGG)
c.1862+24_1862+25insGGGGGGGGGGG (n.1862+24_1862+25insGGGGGGGGGGG)
c.1967+24_1967+25insGGGGGGGGGGG (n.1967+24_1967+25insGGGGGGGGGGG)
 gnomAD v4
17g.44254474_44254475insCCCCCCCCCCCCCA2638191262SLC4A1c.2057+24_2057+25insGGGGGGGGGGGG (n.2057+24_2057+25insGGGGGGGGGGGG)
c.959+24_959+25insGGGGGGGGGGGG (n.959+24_959+25insGGGGGGGGGGGG)
c.1862+24_1862+25insGGGGGGGGGGGG (n.1862+24_1862+25insGGGGGGGGGGGG)
c.1967+24_1967+25insGGGGGGGGGGGG (n.1967+24_1967+25insGGGGGGGGGGGG)
 gnomAD v4
17g.44254474delCA8600136SLC4A1c.2057+24del (n.2057+24del)
c.959+24del (n.959+24del)
c.1862+24del (n.1862+24del)
c.1967+24del (n.1967+24del)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254472_44254475delCA2638191260SLC4A1c.2057+21_2057+24del (n.2057+21_2057+24del)
c.959+21_959+24del (n.959+21_959+24del)
c.1862+21_1862+24del (n.1862+21_1862+24del)
c.1967+21_1967+24del (n.1967+21_1967+24del)
 gnomAD v4
17g.44254475_44254480delCA2638191259SLC4A1c.2057+19_2057+24del (n.2057+19_2057+24del)
c.959+19_959+24del (n.959+19_959+24del)
c.1862+19_1862+24del (n.1862+19_1862+24del)
c.1967+19_1967+24del (n.1967+19_1967+24del)
 gnomAD v4
17g.44254473C>ACA2638191265SLC4A1c.2057+23G>T (n.2057+23G>T)
c.959+23G>T (n.959+23G>T)
c.1862+23G>T (n.1862+23G>T)
c.1967+23G>T (n.1967+23G>T)
 gnomAD v4
17g.44254473C>TCA2576289181SLC4A1c.2057+23G>A (n.2057+23G>A)
c.959+23G>A (n.959+23G>A)
c.1862+23G>A (n.1862+23G>A)
c.1967+23G>A (n.1967+23G>A)
 gnomAD v4
17g.44254474C>ACA2638191267SLC4A1c.2057+22G>T (n.2057+22G>T)
c.959+22G>T (n.959+22G>T)
c.1862+22G>T (n.1862+22G>T)
c.1967+22G>T (n.1967+22G>T)
 gnomAD v4
17g.44254474C>TCA2576289182SLC4A1c.2057+22G>A (n.2057+22G>A)
c.959+22G>A (n.959+22G>A)
c.1862+22G>A (n.1862+22G>A)
c.1967+22G>A (n.1967+22G>A)
 gnomAD v4
17g.44254474_44254475delCA2594317021SLC4A1c.2057+21_2057+22del (n.2057+21_2057+22del)
c.959+21_959+22del (n.959+21_959+22del)
c.1862+21_1862+22del (n.1862+21_1862+22del)
c.1967+21_1967+22del (n.1967+21_1967+22del)
 gnomAD v3 gnomAD v4
17g.44254475_44254477delCA2638191266SLC4A1c.2057+20_2057+22del (n.2057+20_2057+22del)
c.959+20_959+22del (n.959+20_959+22del)
c.1862+20_1862+22del (n.1862+20_1862+22del)
c.1967+20_1967+22del (n.1967+20_1967+22del)
 gnomAD v4
17g.44254475delCA2638191269SLC4A1c.2057+21del (n.2057+21del)
c.959+21del (n.959+21del)
c.1862+21del (n.1862+21del)
c.1967+21del (n.1967+21del)
 gnomAD v4
17g.44254475A>CCA984004617SLC4A1c.2057+21T>G (n.2057+21T>G)
c.959+21T>G (n.959+21T>G)
c.1862+21T>G (n.1862+21T>G)
c.1967+21T>G (n.1967+21T>G)
 dbSNP gnomAD v3 gnomAD v4
17g.44254475A>GCA2638191268SLC4A1c.2057+21T>C (n.2057+21T>C)
c.959+21T>C (n.959+21T>C)
c.1862+21T>C (n.1862+21T>C)
c.1967+21T>C (n.1967+21T>C)
 gnomAD v4
17g.44254475_44254476delCA2594317022SLC4A1c.2057+20_2057+21del (n.2057+20_2057+21del)
c.959+20_959+21del (n.959+20_959+21del)
c.1862+20_1862+21del (n.1862+20_1862+21del)
c.1967+20_1967+21del (n.1967+20_1967+21del)
 gnomAD v3 gnomAD v4
17g.44254475_44254476insCCCCA2638191271SLC4A1c.2057+20_2057+21insGGG (n.2057+20_2057+21insGGG)
c.959+20_959+21insGGG (n.959+20_959+21insGGG)
c.1862+20_1862+21insGGG (n.1862+20_1862+21insGGG)
c.1967+20_1967+21insGGG (n.1967+20_1967+21insGGG)
 gnomAD v4
17g.44254475_44254476insACCCCA2638191270SLC4A1c.2057+20_2057+21insGGGT (n.2057+20_2057+21insGGGT)
c.959+20_959+21insGGGT (n.959+20_959+21insGGGT)
c.1862+20_1862+21insGGGT (n.1862+20_1862+21insGGGT)
c.1967+20_1967+21insGGGT (n.1967+20_1967+21insGGGT)
 gnomAD v4
17g.44254475_44254476insCCCCCA2638191272SLC4A1c.2057+20_2057+21insGGGG (n.2057+20_2057+21insGGGG)
c.959+20_959+21insGGGG (n.959+20_959+21insGGGG)
c.1862+20_1862+21insGGGG (n.1862+20_1862+21insGGGG)
c.1967+20_1967+21insGGGG (n.1967+20_1967+21insGGGG)
 gnomAD v4
17g.44254475_44254476insCCCCCCCCCCCCCA2638191273SLC4A1c.2057+20_2057+21insGGGGGGGGGGGG (n.2057+20_2057+21insGGGGGGGGGGGG)
c.959+20_959+21insGGGGGGGGGGGG (n.959+20_959+21insGGGGGGGGGGGG)
c.1862+20_1862+21insGGGGGGGGGGGG (n.1862+20_1862+21insGGGGGGGGGGGG)
c.1967+20_1967+21insGGGGGGGGGGGG (n.1967+20_1967+21insGGGGGGGGGGGG)
 gnomAD v4
17g.44254476delCA2638191274SLC4A1c.2057+20del (n.2057+20del)
c.959+20del (n.959+20del)
c.1862+20del (n.1862+20del)
c.1967+20del (n.1967+20del)
 gnomAD v4
17g.44254476G>ACA2638191275SLC4A1c.2057+20C>T (n.2057+20C>T)
c.959+20C>T (n.959+20C>T)
c.1862+20C>T (n.1862+20C>T)
c.1967+20C>T (n.1967+20C>T)
 gnomAD v4
17g.44254476G>CCA984004618SLC4A1c.2057+20C>G (n.2057+20C>G)
c.959+20C>G (n.959+20C>G)
c.1862+20C>G (n.1862+20C>G)
c.1967+20C>G (n.1967+20C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.44254476G>TCA2566087218SLC4A1c.2057+20C>A (n.2057+20C>A)
c.959+20C>A (n.959+20C>A)
c.1862+20C>A (n.1862+20C>A)
c.1967+20C>A (n.1967+20C>A)
 gnomAD v4
17g.44254477C=CA2261308239SLC4A1c.2057+19G= (n.2057+19G=)
c.959+19G= (n.959+19G=)
c.1862+19G= (n.1862+19G=)
c.1967+19G= (n.1967+19G=)
17g.44254477C>GCA2261308238SLC4A1c.2057+19G>C (n.2057+19G>C)
c.959+19G>C (n.959+19G>C)
c.1862+19G>C (n.1862+19G>C)
c.1967+19G>C (n.1967+19G>C)
 dbSNP gnomAD v4
17g.44254477C>TCA8600137SLC4A1c.2057+19G>A (n.2057+19G>A)
c.959+19G>A (n.959+19G>A)
c.1862+19G>A (n.1862+19G>A)
c.1967+19G>A (n.1967+19G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254481_44254482insCCCCCCCA2809585934SLC4A1c.2057+19_2057+20insGGGGGG (n.2057+19_2057+20insGGGGGG)
c.959+19_959+20insGGGGGG (n.959+19_959+20insGGGGGG)
c.1862+19_1862+20insGGGGGG (n.1862+19_1862+20insGGGGGG)
c.1967+19_1967+20insGGGGGG (n.1967+19_1967+20insGGGGGG)
17g.44254481dupCA2638191278SLC4A1c.2057+19dup (n.2057+19dup)
c.959+19dup (n.959+19dup)
c.1862+19dup (n.1862+19dup)
c.1967+19dup (n.1967+19dup)
 gnomAD v4
17g.44254479_44254481dupCA2809585932SLC4A1c.2057+17_2057+19dup (n.2057+17_2057+19dup)
c.959+17_959+19dup (n.959+17_959+19dup)
c.1862+17_1862+19dup (n.1862+17_1862+19dup)
c.1967+17_1967+19dup (n.1967+17_1967+19dup)
17g.44254478_44254481dupCA2809585933SLC4A1c.2057+16_2057+19dup (n.2057+16_2057+19dup)
c.959+16_959+19dup (n.959+16_959+19dup)
c.1862+16_1862+19dup (n.1862+16_1862+19dup)
c.1967+16_1967+19dup (n.1967+16_1967+19dup)
17g.44254477_44254481dupCA2638191277SLC4A1c.2057+15_2057+19dup (n.2057+15_2057+19dup)
c.959+15_959+19dup (n.959+15_959+19dup)
c.1862+15_1862+19dup (n.1862+15_1862+19dup)
c.1967+15_1967+19dup (n.1967+15_1967+19dup)
 gnomAD v4
17g.44254481delCA2638191279SLC4A1c.2057+19del (n.2057+19del)
c.959+19del (n.959+19del)
c.1862+19del (n.1862+19del)
c.1967+19del (n.1967+19del)
 gnomAD v4
17g.44254480_44254485delCA2638191276SLC4A1c.2057+14_2057+19del (n.2057+14_2057+19del)
c.959+14_959+19del (n.959+14_959+19del)
c.1862+14_1862+19del (n.1862+14_1862+19del)
c.1967+14_1967+19del (n.1967+14_1967+19del)
 gnomAD v4
17g.44254478C>ACA2638191280SLC4A1c.2057+18G>T (n.2057+18G>T)
c.959+18G>T (n.959+18G>T)
c.1862+18G>T (n.1862+18G>T)
c.1967+18G>T (n.1967+18G>T)
 gnomAD v4
17g.44254478C=CA2261308240SLC4A1c.2057+18G= (n.2057+18G=)
c.959+18G= (n.959+18G=)
c.1862+18G= (n.1862+18G=)
c.1967+18G= (n.1967+18G=)
17g.44254478C>GCA2638191281SLC4A1c.2057+18G>C (n.2057+18G>C)
c.959+18G>C (n.959+18G>C)
c.1862+18G>C (n.1862+18G>C)
c.1967+18G>C (n.1967+18G>C)
 gnomAD v4
17g.44254478C>TCA984004620SLC4A1c.2057+18G>A (n.2057+18G>A)
c.959+18G>A (n.959+18G>A)
c.1862+18G>A (n.1862+18G>A)
c.1967+18G>A (n.1967+18G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.44254479C>ACA626124718SLC4A1c.2057+17G>T (n.2057+17G>T)
c.959+17G>T (n.959+17G>T)
c.1862+17G>T (n.1862+17G>T)
c.1967+17G>T (n.1967+17G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44254479C=CA2261308241SLC4A1c.2057+17G= (n.2057+17G=)
c.959+17G= (n.959+17G=)
c.1862+17G= (n.1862+17G=)
c.1967+17G= (n.1967+17G=)
17g.44254479C>GCA2261308242SLC4A1c.2057+17G>C (n.2057+17G>C)
c.959+17G>C (n.959+17G>C)
c.1862+17G>C (n.1862+17G>C)
c.1967+17G>C (n.1967+17G>C)
 dbSNP
17g.44254479C>TCA2638191282SLC4A1c.2057+17G>A (n.2057+17G>A)
c.959+17G>A (n.959+17G>A)
c.1862+17G>A (n.1862+17G>A)
c.1967+17G>A (n.1967+17G>A)
 gnomAD v4
17g.44254480C>ACA2638191284SLC4A1c.2057+16G>T (n.2057+16G>T)
c.959+16G>T (n.959+16G>T)
c.1862+16G>T (n.1862+16G>T)
c.1967+16G>T (n.1967+16G>T)
 gnomAD v4
17g.44254480C>TCA2638191283SLC4A1c.2057+16G>A (n.2057+16G>A)
c.959+16G>A (n.959+16G>A)
c.1862+16G>A (n.1862+16G>A)
c.1967+16G>A (n.1967+16G>A)
 gnomAD v4
17g.44254481C>ACA8600138SLC4A1c.2057+15G>T (n.2057+15G>T)
c.959+15G>T (n.959+15G>T)
c.1862+15G>T (n.1862+15G>T)
c.1967+15G>T (n.1967+15G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254481C=CA2261308243SLC4A1c.2057+15G= (n.2057+15G=)
c.959+15G= (n.959+15G=)
c.1862+15G= (n.1862+15G=)
c.1967+15G= (n.1967+15G=)
17g.44254481C>GCA2638191285SLC4A1c.2057+15G>C (n.2057+15G>C)
c.959+15G>C (n.959+15G>C)
c.1862+15G>C (n.1862+15G>C)
c.1967+15G>C (n.1967+15G>C)
 gnomAD v4
17g.44254481C>TCA2638191286SLC4A1c.2057+15G>A (n.2057+15G>A)
c.959+15G>A (n.959+15G>A)
c.1862+15G>A (n.1862+15G>A)
c.1967+15G>A (n.1967+15G>A)
 gnomAD v4
17g.44254482delCA2638191287SLC4A1c.2057+14del (n.2057+14del)
c.959+14del (n.959+14del)
c.1862+14del (n.1862+14del)
c.1967+14del (n.1967+14del)
 gnomAD v4
17g.44254482A>CCA984004624SLC4A1c.2057+14T>G (n.2057+14T>G)
c.959+14T>G (n.959+14T>G)
c.1862+14T>G (n.1862+14T>G)
c.1967+14T>G (n.1967+14T>G)
 dbSNP gnomAD v3 gnomAD v4
17g.44254483C>ACA772278812SLC4A1c.2057+13G>T (n.2057+13G>T)
c.959+13G>T (n.959+13G>T)
c.1862+13G>T (n.1862+13G>T)
c.1967+13G>T (n.1967+13G>T)
 dbSNP gnomAD v3 gnomAD v4
17g.44254483C=CA2261308244SLC4A1c.2057+13G= (n.2057+13G=)
c.959+13G= (n.959+13G=)
c.1862+13G= (n.1862+13G=)
c.1967+13G= (n.1967+13G=)
17g.44254483C>TCA8600139SLC4A1c.2057+13G>A (n.2057+13G>A)
c.959+13G>A (n.959+13G>A)
c.1862+13G>A (n.1862+13G>A)
c.1967+13G>A (n.1967+13G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254483_44254486delCA2638191288SLC4A1c.2057+10_2057+13del (n.2057+10_2057+13del)
c.959+10_959+13del (n.959+10_959+13del)
c.1862+10_1862+13del (n.1862+10_1862+13del)
c.1967+10_1967+13del (n.1967+10_1967+13del)
 gnomAD v4
17g.44254484C>ACA2638191289SLC4A1c.2057+12G>T (n.2057+12G>T)
c.959+12G>T (n.959+12G>T)
c.1862+12G>T (n.1862+12G>T)
c.1967+12G>T (n.1967+12G>T)
 gnomAD v4
17g.44254485C>ACA2512303226SLC4A1c.2057+11G>T (n.2057+11G>T)
c.959+11G>T (n.959+11G>T)
c.1862+11G>T (n.1862+11G>T)
c.1967+11G>T (n.1967+11G>T)
 gnomAD v4
17g.44254485C>TCA2638191290SLC4A1c.2057+11G>A (n.2057+11G>A)
c.959+11G>A (n.959+11G>A)
c.1862+11G>A (n.1862+11G>A)
c.1967+11G>A (n.1967+11G>A)
 gnomAD v4
17g.44254485_44254486delinsCTCA2261308245SLC4A1c.2057+10_2057+11delinsAG (n.2057+10_2057+11delinsAG)
c.959+10_959+11delinsAG (n.959+10_959+11delinsAG)
c.1862+10_1862+11delinsAG (n.1862+10_1862+11delinsAG)
c.1967+10_1967+11delinsAG (n.1967+10_1967+11delinsAG)
17g.44254485_44254486insCAGCA2638191291SLC4A1c.2057+10_2057+11insCTG (n.2057+10_2057+11insCTG)
c.959+10_959+11insCTG (n.959+10_959+11insCTG)
c.1862+10_1862+11insCTG (n.1862+10_1862+11insCTG)
c.1967+10_1967+11insCTG (n.1967+10_1967+11insCTG)
 gnomAD v4
17g.44254485_44254486insCCAGCA2638191293SLC4A1c.2057+10_2057+11insCTGG (n.2057+10_2057+11insCTGG)
c.959+10_959+11insCTGG (n.959+10_959+11insCTGG)
c.1862+10_1862+11insCTGG (n.1862+10_1862+11insCTGG)
c.1967+10_1967+11insCTGG (n.1967+10_1967+11insCTGG)
 gnomAD v4
17g.44254486delCA626124719SLC4A1c.2057+10del (n.2057+10del)
c.959+10del (n.959+10del)
c.1862+10del (n.1862+10del)
c.1967+10del (n.1967+10del)
 dbSNP gnomAD v2 gnomAD v4
17g.44254486T>ACA984004628SLC4A1c.2057+10A>T (n.2057+10A>T)
c.959+10A>T (n.959+10A>T)
c.1862+10A>T (n.1862+10A>T)
c.1967+10A>T (n.1967+10A>T)
 dbSNP gnomAD v3 gnomAD v4
17g.44254486T>CCA626124720SLC4A1c.2057+10A>G (n.2057+10A>G)
c.959+10A>G (n.959+10A>G)
c.1862+10A>G (n.1862+10A>G)
c.1967+10A>G (n.1967+10A>G)
 dbSNP gnomAD v2 gnomAD v4
17g.44254486T>GCA2638191292SLC4A1c.2057+10A>C (n.2057+10A>C)
c.959+10A>C (n.959+10A>C)
c.1862+10A>C (n.1862+10A>C)
c.1967+10A>C (n.1967+10A>C)
 gnomAD v4
17g.44254486T=CA2261308246SLC4A1c.2057+10A= (n.2057+10A=)
c.959+10A= (n.959+10A=)
c.1862+10A= (n.1862+10A=)
c.1967+10A= (n.1967+10A=)
17g.44254487G>ACA8600140SLC4A1c.2057+9C>T (n.2057+9C>T)
c.959+9C>T (n.959+9C>T)
c.1862+9C>T (n.1862+9C>T)
c.1967+9C>T (n.1967+9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254487G>CCA2638191295SLC4A1c.2057+9C>G (n.2057+9C>G)
c.959+9C>G (n.959+9C>G)
c.1862+9C>G (n.1862+9C>G)
c.1967+9C>G (n.1967+9C>G)
 gnomAD v4
17g.44254487G=CA2261308247SLC4A1c.2057+9C= (n.2057+9C=)
c.959+9C= (n.959+9C=)
c.1862+9C= (n.1862+9C=)
c.1967+9C= (n.1967+9C=)
17g.44254487G>TCA2638191294SLC4A1c.2057+9C>A (n.2057+9C>A)
c.959+9C>A (n.959+9C>A)
c.1862+9C>A (n.1862+9C>A)
c.1967+9C>A (n.1967+9C>A)
 gnomAD v4
17g.44254487_44254489delinsGTCCA2261308248SLC4A1c.2057+7_2057+9delinsGAC (n.2057+7_2057+9delinsGAC)
c.959+7_959+9delinsGAC (n.959+7_959+9delinsGAC)
c.1862+7_1862+9delinsGAC (n.1862+7_1862+9delinsGAC)
c.1967+7_1967+9delinsGAC (n.1967+7_1967+9delinsGAC)
17g.44254488T>CCA2638191297SLC4A1c.2057+8A>G (n.2057+8A>G)
c.959+8A>G (n.959+8A>G)
c.1862+8A>G (n.1862+8A>G)
c.1967+8A>G (n.1967+8A>G)
 gnomAD v4
17g.44254488T>GCA2638191296SLC4A1c.2057+8A>C (n.2057+8A>C)
c.959+8A>C (n.959+8A>C)
c.1862+8A>C (n.1862+8A>C)
c.1967+8A>C (n.1967+8A>C)
 gnomAD v4
17g.44254492_44254493delCA626124721SLC4A1c.2057+7_2057+8del (n.2057+7_2057+8del)
c.959+7_959+8del (n.959+7_959+8del)
c.1862+7_1862+8del (n.1862+7_1862+8del)
c.1967+7_1967+8del (n.1967+7_1967+8del)
 dbSNP gnomAD v2 gnomAD v4
17g.44254489C>ACA2638191298SLC4A1c.2057+7G>T (n.2057+7G>T)
c.959+7G>T (n.959+7G>T)
c.1862+7G>T (n.1862+7G>T)
c.1967+7G>T (n.1967+7G>T)
 gnomAD v4
17g.44254489C>GCA2576289183SLC4A1c.2057+7G>C (n.2057+7G>C)
c.959+7G>C (n.959+7G>C)
c.1862+7G>C (n.1862+7G>C)
c.1967+7G>C (n.1967+7G>C)
 gnomAD v4
17g.44254490delCA2809585936SLC4A1c.2057+6del (n.2057+6del)
c.959+6del (n.959+6del)
c.1862+6del (n.1862+6del)
c.1967+6del (n.1967+6del)
17g.44254490T>ACA2638191299SLC4A1c.2057+6A>T (n.2057+6A>T)
c.959+6A>T (n.959+6A>T)
c.1862+6A>T (n.1862+6A>T)
c.1967+6A>T (n.1967+6A>T)
 gnomAD v4
17g.44254490T>CCA2638191300SLC4A1c.2057+6A>G (n.2057+6A>G)
c.959+6A>G (n.959+6A>G)
c.1862+6A>G (n.1862+6A>G)
c.1967+6A>G (n.1967+6A>G)
 gnomAD v4
17g.44254490T>GCA2638191301SLC4A1c.2057+6A>C (n.2057+6A>C)
c.959+6A>C (n.959+6A>C)
c.1862+6A>C (n.1862+6A>C)
c.1967+6A>C (n.1967+6A>C)
 gnomAD v4
17g.44254491C>ACA2638191302SLC4A1c.2057+5G>T (n.2057+5G>T)
c.959+5G>T (n.959+5G>T)
c.1862+5G>T (n.1862+5G>T)
c.1967+5G>T (n.1967+5G>T)
 gnomAD v4
17g.44254491_44254495delinsTTCATCA2695226321SLC4A1c.2057+1_2057+5delinsATGAA (n.2057+1_2057+5delinsATGAA)
c.959+1_959+5delinsATGAA (n.959+1_959+5delinsATGAA)
c.1862+1_1862+5delinsATGAA (n.1862+1_1862+5delinsATGAA)
c.1967+1_1967+5delinsATGAA (n.1967+1_1967+5delinsATGAA)
17g.44254492T>ACA2638191303SLC4A1c.2057+4A>T (n.2057+4A>T)
c.959+4A>T (n.959+4A>T)
c.1862+4A>T (n.1862+4A>T)
c.1967+4A>T (n.1967+4A>T)
 gnomAD v4
17g.44254492T>CCA2638191304SLC4A1c.2057+4A>G (n.2057+4A>G)
c.959+4A>G (n.959+4A>G)
c.1862+4A>G (n.1862+4A>G)
c.1967+4A>G (n.1967+4A>G)
 gnomAD v4
17g.44254493C>ACA2638191305SLC4A1c.2057+3G>T (n.2057+3G>T)
c.959+3G>T (n.959+3G>T)
c.1862+3G>T (n.1862+3G>T)
c.1967+3G>T (n.1967+3G>T)
 gnomAD v4
17g.44254493C>TCA2809585937SLC4A1c.2057+3G>A (n.2057+3G>A)
c.959+3G>A (n.959+3G>A)
c.1862+3G>A (n.1862+3G>A)
c.1967+3G>A (n.1967+3G>A)
17g.44254494A>CCA399782507SLC4A1c.2057+2T>G (n.2057+2T>G)
c.959+2T>G (n.959+2T>G)
c.1862+2T>G (n.1862+2T>G)
c.1967+2T>G (n.1967+2T>G)
 gnomAD v4
17g.44254494A>GCA399782512SLC4A1c.2057+2T>C (n.2057+2T>C)
c.959+2T>C (n.959+2T>C)
c.1862+2T>C (n.1862+2T>C)
c.1967+2T>C (n.1967+2T>C)
17g.44254494A>TCA399782509SLC4A1c.2057+2T>A (n.2057+2T>A)
c.959+2T>A (n.959+2T>A)
c.1862+2T>A (n.1862+2T>A)
c.1967+2T>A (n.1967+2T>A)
17g.44254495C>ACA399782514SLC4A1c.2057+1G>T (n.2057+1G>T)
c.959+1G>T (n.959+1G>T)
c.1862+1G>T (n.1862+1G>T)
c.1967+1G>T (n.1967+1G>T)
 gnomAD v4
17g.44254495C=CA2261308249SLC4A1c.2057+1G= (n.2057+1G=)
c.959+1G= (n.959+1G=)
c.1862+1G= (n.1862+1G=)
c.1967+1G= (n.1967+1G=)
17g.44254495C>GCA399782517SLC4A1c.2057+1G>C (n.2057+1G>C)
c.959+1G>C (n.959+1G>C)
c.1862+1G>C (n.1862+1G>C)
c.1967+1G>C (n.1967+1G>C)
 ClinVar dbSNP
17g.44254495C>TCA399782515SLC4A1c.2057+1G>A (n.2057+1G>A)
c.959+1G>A (n.959+1G>A)
c.1862+1G>A (n.1862+1G>A)
c.1967+1G>A (n.1967+1G>A)
 ClinVar dbSNP gnomAD v4
17g.44254496G>ACA8600141SLC4A1c.2057C>T (p.Thr686Met)
c.959C>T (p.Thr320Met)
c.1862C>T (p.Thr621Met)
c.1967C>T (p.Thr656Met)
c.2057C>T (p.Thr686Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254496G>CCA399782520SLC4A1c.2057C>G (p.Thr686Arg)
c.959C>G (p.Thr320Arg)
c.1862C>G (p.Thr621Arg)
c.1967C>G (p.Thr656Arg)
c.2057C>G (p.Thr686Ser)
 gnomAD v3 gnomAD v4
17g.44254496G=CA2261308250SLC4A1c.2057C= (p.Thr686=)
c.959C= (p.Thr320=)
c.1862C= (p.Thr621=)
c.1967C= (p.Thr656=)
17g.44254496G>TCA8600142SLC4A1c.2057C>A (p.Thr686Lys)
c.959C>A (p.Thr320Lys)
c.1862C>A (p.Thr621Lys)
c.1967C>A (p.Thr656Lys)
c.2057C>A (p.Thr686Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254497T>ACA399782524SLC4A1c.2056A>T (p.Thr686Ser)
c.958A>T (p.Thr320Ser)
c.1861A>T (p.Thr621Ser)
c.1966A>T (p.Thr656Ser)
17g.44254497T>CCA399782526SLC4A1c.2056A>G (p.Thr686Ala)
c.958A>G (p.Thr320Ala)
c.1861A>G (p.Thr621Ala)
c.1966A>G (p.Thr656Ala)
17g.44254497T>GCA399782529SLC4A1c.2056A>C (p.Thr686Pro)
c.958A>C (p.Thr320Pro)
c.1861A>C (p.Thr621Pro)
c.1966A>C (p.Thr656Pro)
17g.44254498G>ACA8600143SLC4A1c.2055C>T (p.Thr685=)
c.957C>T (p.Thr319=)
c.1860C>T (p.Thr620=)
c.1965C>T (p.Thr655=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254498G>CCA500285284SLC4A1c.2055C>G (p.Thr685=)
c.957C>G (p.Thr319=)
c.1860C>G (p.Thr620=)
c.1965C>G (p.Thr655=)
17g.44254498G=CA2261308251SLC4A1c.2055C= (p.Thr685=)
c.957C= (p.Thr319=)
c.1860C= (p.Thr620=)
c.1965C= (p.Thr655=)
17g.44254498G>TCA500285286SLC4A1c.2055C>A (p.Thr685=)
c.957C>A (p.Thr319=)
c.1860C>A (p.Thr620=)
c.1965C>A (p.Thr655=)
 gnomAD v4
17g.44254499delCA2638191306SLC4A1c.2055del (p.Thr686ArgfsTer2)
c.957del (p.Thr320ArgfsTer2)
c.1860del (p.Thr621ArgfsTer2)
c.1965del (p.Thr656ArgfsTer2)
c.2055del (p.Thr686LeufsTer?)
 gnomAD v4
17g.44254499G>ACA399782532SLC4A1c.2054C>T (p.Thr685Ile)
c.956C>T (p.Thr319Ile)
c.1859C>T (p.Thr620Ile)
c.1964C>T (p.Thr655Ile)
17g.44254499G>CCA399782533SLC4A1c.2054C>G (p.Thr685Ser)
c.956C>G (p.Thr319Ser)
c.1859C>G (p.Thr620Ser)
c.1964C>G (p.Thr655Ser)
17g.44254499G>TCA399782535SLC4A1c.2054C>A (p.Thr685Asn)
c.956C>A (p.Thr319Asn)
c.1859C>A (p.Thr620Asn)
c.1964C>A (p.Thr655Asn)
17g.44254500T>ACA399782540SLC4A1c.2053A>T (p.Thr685Ser)
c.955A>T (p.Thr319Ser)
c.1858A>T (p.Thr620Ser)
c.1963A>T (p.Thr655Ser)
17g.44254500T>CCA8600144SLC4A1c.2053A>G (p.Thr685Ala)
c.955A>G (p.Thr319Ala)
c.1858A>G (p.Thr620Ala)
c.1963A>G (p.Thr655Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254500T>GCA399782537SLC4A1c.2053A>C (p.Thr685Pro)
c.955A>C (p.Thr319Pro)
c.1858A>C (p.Thr620Pro)
c.1963A>C (p.Thr655Pro)
 gnomAD v4
17g.44254500T=CA2261308252SLC4A1c.2053A= (p.Thr685=)
c.955A= (p.Thr319=)
c.1858A= (p.Thr620=)
c.1963A= (p.Thr655=)
17g.44254501G>ACA500285291SLC4A1c.2052C>T (p.Ile684=)
c.954C>T (p.Ile318=)
c.1857C>T (p.Ile619=)
c.1962C>T (p.Ile654=)
 gnomAD v4
17g.44254501G>CCA399782543SLC4A1c.2052C>G (p.Ile684Met)
c.954C>G (p.Ile318Met)
c.1857C>G (p.Ile619Met)
c.1962C>G (p.Ile654Met)
17g.44254501G=CA2261308253SLC4A1c.2052C= (p.Ile684=)
c.954C= (p.Ile318=)
c.1857C= (p.Ile619=)
c.1962C= (p.Ile654=)
17g.44254501G>TCA500285290SLC4A1c.2052C>A (p.Ile684=)
c.954C>A (p.Ile318=)
c.1857C>A (p.Ile619=)
c.1962C>A (p.Ile654=)
 dbSNP gnomAD v3 gnomAD v4
17g.44254502A>CCA399782545SLC4A1c.2051T>G (p.Ile684Ser)
c.953T>G (p.Ile318Ser)
c.1856T>G (p.Ile619Ser)
c.1961T>G (p.Ile654Ser)
17g.44254502A>GCA399782547SLC4A1c.2051T>C (p.Ile684Thr)
c.953T>C (p.Ile318Thr)
c.1856T>C (p.Ile619Thr)
c.1961T>C (p.Ile654Thr)
17g.44254502A>TCA399782549SLC4A1c.2051T>A (p.Ile684Asn)
c.953T>A (p.Ile318Asn)
c.1856T>A (p.Ile619Asn)
c.1961T>A (p.Ile654Asn)
 gnomAD v4
17g.44254503T>ACA399782551SLC4A1c.2050A>T (p.Ile684Phe)
c.952A>T (p.Ile318Phe)
c.1855A>T (p.Ile619Phe)
c.1960A>T (p.Ile654Phe)
17g.44254503T>CCA399782553SLC4A1c.2050A>G (p.Ile684Val)
c.952A>G (p.Ile318Val)
c.1855A>G (p.Ile619Val)
c.1960A>G (p.Ile654Val)
17g.44254503T>GCA399782555SLC4A1c.2050A>C (p.Ile684Leu)
c.952A>C (p.Ile318Leu)
c.1855A>C (p.Ile619Leu)
c.1960A>C (p.Ile654Leu)
17g.44254504C>ACA399782557SLC4A1c.2049G>T (p.Gln683His)
c.951G>T (p.Gln317His)
c.1854G>T (p.Gln618His)
c.1959G>T (p.Gln653His)
 gnomAD v4
17g.44254504C>GCA399782559SLC4A1c.2049G>C (p.Gln683His)
c.951G>C (p.Gln317His)
c.1854G>C (p.Gln618His)
c.1959G>C (p.Gln653His)
17g.44254504C>TCA500285298SLC4A1c.2049G>A (p.Gln683=)
c.951G>A (p.Gln317=)
c.1854G>A (p.Gln618=)
c.1959G>A (p.Gln653=)
17g.44254505T>ACA399782561SLC4A1c.2048A>T (p.Gln683Leu)
c.950A>T (p.Gln317Leu)
c.1853A>T (p.Gln618Leu)
c.1958A>T (p.Gln653Leu)
 gnomAD v4
17g.44254505T>CCA399782563SLC4A1c.2048A>G (p.Gln683Arg)
c.950A>G (p.Gln317Arg)
c.1853A>G (p.Gln618Arg)
c.1958A>G (p.Gln653Arg)
17g.44254505T>GCA399782565SLC4A1c.2048A>C (p.Gln683Pro)
c.950A>C (p.Gln317Pro)
c.1853A>C (p.Gln618Pro)
c.1958A>C (p.Gln653Pro)
17g.44254506G>ACA399782570SLC4A1c.2047C>T (p.Gln683Ter)
c.949C>T (p.Gln317Ter)
c.1852C>T (p.Gln618Ter)
c.1957C>T (p.Gln653Ter)
17g.44254506G>CCA399782571SLC4A1c.2047C>G (p.Gln683Glu)
c.949C>G (p.Gln317Glu)
c.1852C>G (p.Gln618Glu)
c.1957C>G (p.Gln653Glu)
17g.44254506G>TCA399782568SLC4A1c.2047C>A (p.Gln683Lys)
c.949C>A (p.Gln317Lys)
c.1852C>A (p.Gln618Lys)
c.1957C>A (p.Gln653Lys)
 gnomAD v4
17g.44254507A>CCA500285305SLC4A1c.2046T>G (p.Ser682=)
c.948T>G (p.Ser316=)
c.1851T>G (p.Ser617=)
c.1956T>G (p.Ser652=)
17g.44254507A>GCA500285307SLC4A1c.2046T>C (p.Ser682=)
c.948T>C (p.Ser316=)
c.1851T>C (p.Ser617=)
c.1956T>C (p.Ser652=)
17g.44254507A>TCA500285304SLC4A1c.2046T>A (p.Ser682=)
c.948T>A (p.Ser316=)
c.1851T>A (p.Ser617=)
c.1956T>A (p.Ser652=)
 gnomAD v4
17g.44254508G>ACA399782572SLC4A1c.2045C>T (p.Ser682Phe)
c.947C>T (p.Ser316Phe)
c.1850C>T (p.Ser617Phe)
c.1955C>T (p.Ser652Phe)
 dbSNP gnomAD v4
17g.44254508G>CCA399782574SLC4A1c.2045C>G (p.Ser682Cys)
c.947C>G (p.Ser316Cys)
c.1850C>G (p.Ser617Cys)
c.1955C>G (p.Ser652Cys)
17g.44254508G=CA2261308254SLC4A1c.2045C= (p.Ser682=)
c.947C= (p.Ser316=)
c.1850C= (p.Ser617=)
c.1955C= (p.Ser652=)
17g.44254508G>TCA399782577SLC4A1c.2045C>A (p.Ser682Tyr)
c.947C>A (p.Ser316Tyr)
c.1850C>A (p.Ser617Tyr)
c.1955C>A (p.Ser652Tyr)
 gnomAD v4
17g.44254509A>CCA399782581SLC4A1c.2044T>G (p.Ser682Ala)
c.946T>G (p.Ser316Ala)
c.1849T>G (p.Ser617Ala)
c.1954T>G (p.Ser652Ala)
17g.44254509A>GCA399782582SLC4A1c.2044T>C (p.Ser682Pro)
c.946T>C (p.Ser316Pro)
c.1849T>C (p.Ser617Pro)
c.1954T>C (p.Ser652Pro)
 gnomAD v4
17g.44254509A>TCA399782584SLC4A1c.2044T>A (p.Ser682Thr)
c.946T>A (p.Ser316Thr)
c.1849T>A (p.Ser617Thr)
c.1954T>A (p.Ser652Thr)
 gnomAD v4
17g.44254510C>ACA399782588SLC4A1c.2043G>T (p.Glu681Asp)
c.945G>T (p.Glu315Asp)
c.1848G>T (p.Glu616Asp)
c.1953G>T (p.Glu651Asp)
 gnomAD v4
17g.44254510C>GCA399782587SLC4A1c.2043G>C (p.Glu681Asp)
c.945G>C (p.Glu315Asp)
c.1848G>C (p.Glu616Asp)
c.1953G>C (p.Glu651Asp)
17g.44254510C>TCA500285312SLC4A1c.2043G>A (p.Glu681=)
c.945G>A (p.Glu315=)
c.1848G>A (p.Glu616=)
c.1953G>A (p.Glu651=)
 gnomAD v4
17g.44254511T>ACA399782589SLC4A1c.2042A>T (p.Glu681Val)
c.944A>T (p.Glu315Val)
c.1847A>T (p.Glu616Val)
c.1952A>T (p.Glu651Val)
 gnomAD v4
17g.44254511T>CCA399782591SLC4A1c.2042A>G (p.Glu681Gly)
c.944A>G (p.Glu315Gly)
c.1847A>G (p.Glu616Gly)
c.1952A>G (p.Glu651Gly)
17g.44254511T>GCA399782593SLC4A1c.2042A>C (p.Glu681Ala)
c.944A>C (p.Glu315Ala)
c.1847A>C (p.Glu616Ala)
c.1952A>C (p.Glu651Ala)
17g.44254512C>ACA399782595SLC4A1c.2041G>T (p.Glu681Ter)
c.943G>T (p.Glu315Ter)
c.1846G>T (p.Glu616Ter)
c.1951G>T (p.Glu651Ter)
 gnomAD v4
17g.44254512C>GCA399782597SLC4A1c.2041G>C (p.Glu681Gln)
c.943G>C (p.Glu315Gln)
c.1846G>C (p.Glu616Gln)
c.1951G>C (p.Glu651Gln)
17g.44254512C>TCA399782599SLC4A1c.2041G>A (p.Glu681Lys)
c.943G>A (p.Glu315Lys)
c.1846G>A (p.Glu616Lys)
c.1951G>A (p.Glu651Lys)
 gnomAD v4
17g.44254513C>ACA500285319SLC4A1c.2040G>T (p.Leu680=)
c.942G>T (p.Leu314=)
c.1845G>T (p.Leu615=)
c.1950G>T (p.Leu650=)
17g.44254513C>GCA500285318SLC4A1c.2040G>C (p.Leu680=)
c.942G>C (p.Leu314=)
c.1845G>C (p.Leu615=)
c.1950G>C (p.Leu650=)
17g.44254513C>TCA500285317SLC4A1c.2040G>A (p.Leu680=)
c.942G>A (p.Leu314=)
c.1845G>A (p.Leu615=)
c.1950G>A (p.Leu650=)
17g.44254514A>CCA399782600SLC4A1c.2039T>G (p.Leu680Arg)
c.941T>G (p.Leu314Arg)
c.1844T>G (p.Leu615Arg)
c.1949T>G (p.Leu650Arg)
17g.44254514A>GCA399782603SLC4A1c.2039T>C (p.Leu680Pro)
c.941T>C (p.Leu314Pro)
c.1844T>C (p.Leu615Pro)
c.1949T>C (p.Leu650Pro)
17g.44254514A>TCA399782602SLC4A1c.2039T>A (p.Leu680Gln)
c.941T>A (p.Leu314Gln)
c.1844T>A (p.Leu615Gln)
c.1949T>A (p.Leu650Gln)
17g.44254515G>ACA500285324SLC4A1c.2038C>T (p.Leu680=)
c.940C>T (p.Leu314=)
c.1843C>T (p.Leu615=)
c.1948C>T (p.Leu650=)
17g.44254515G>CCA399782606SLC4A1c.2038C>G (p.Leu680Val)
c.940C>G (p.Leu314Val)
c.1843C>G (p.Leu615Val)
c.1948C>G (p.Leu650Val)
17g.44254515G>TCA399782607SLC4A1c.2038C>A (p.Leu680Met)
c.940C>A (p.Leu314Met)
c.1843C>A (p.Leu615Met)
c.1948C>A (p.Leu650Met)
17g.44254516G>ACA500285325SLC4A1c.2037C>T (p.Phe679=)
c.939C>T (p.Phe313=)
c.1842C>T (p.Phe614=)
c.1947C>T (p.Phe649=)
17g.44254516G>CCA399782609SLC4A1c.2037C>G (p.Phe679Leu)
c.939C>G (p.Phe313Leu)
c.1842C>G (p.Phe614Leu)
c.1947C>G (p.Phe649Leu)
17g.44254516G>TCA399782611SLC4A1c.2037C>A (p.Phe679Leu)
c.939C>A (p.Phe313Leu)
c.1842C>A (p.Phe614Leu)
c.1947C>A (p.Phe649Leu)
17g.44254517A=CA2261308255SLC4A1c.2036T= (p.Phe679=)
c.938T= (p.Phe313=)
c.1841T= (p.Phe614=)
c.1946T= (p.Phe649=)
17g.44254517A>CCA399782614SLC4A1c.2036T>G (p.Phe679Cys)
c.938T>G (p.Phe313Cys)
c.1841T>G (p.Phe614Cys)
c.1946T>G (p.Phe649Cys)
 dbSNP gnomAD v4
17g.44254517A>GCA399782616SLC4A1c.2036T>C (p.Phe679Ser)
c.938T>C (p.Phe313Ser)
c.1841T>C (p.Phe614Ser)
c.1946T>C (p.Phe649Ser)
17g.44254517A>TCA399782618SLC4A1c.2036T>A (p.Phe679Tyr)
c.938T>A (p.Phe313Tyr)
c.1841T>A (p.Phe614Tyr)
c.1946T>A (p.Phe649Tyr)
17g.44254518A=CA2261308256SLC4A1c.2035T= (p.Phe679=)
c.937T= (p.Phe313=)
c.1840T= (p.Phe614=)
c.1945T= (p.Phe649=)
17g.44254518A>CCA399782620SLC4A1c.2035T>G (p.Phe679Val)
c.937T>G (p.Phe313Val)
c.1840T>G (p.Phe614Val)
c.1945T>G (p.Phe649Val)
17g.44254518A>GCA8600145SLC4A1c.2035T>C (p.Phe679Leu)
c.937T>C (p.Phe313Leu)
c.1840T>C (p.Phe614Leu)
c.1945T>C (p.Phe649Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254518A>TCA399782624SLC4A1c.2035T>A (p.Phe679Ile)
c.937T>A (p.Phe313Ile)
c.1840T>A (p.Phe614Ile)
c.1945T>A (p.Phe649Ile)
17g.44254519T>ACA500285330SLC4A1c.2034A>T (p.Ile678=)
c.936A>T (p.Ile312=)
c.1839A>T (p.Ile613=)
c.1944A>T (p.Ile648=)
17g.44254519T>CCA399782625SLC4A1c.2034A>G (p.Ile678Met)
c.936A>G (p.Ile312Met)
c.1839A>G (p.Ile613Met)
c.1944A>G (p.Ile648Met)
17g.44254519T>GCA500285333SLC4A1c.2034A>C (p.Ile678=)
c.936A>C (p.Ile312=)
c.1839A>C (p.Ile613=)
c.1944A>C (p.Ile648=)
17g.44254520A=CA2261308257SLC4A1c.2033T= (p.Ile678=)
c.935T= (p.Ile312=)
c.1838T= (p.Ile613=)
c.1943T= (p.Ile648=)
17g.44254520A>CCA399782629SLC4A1c.2033T>G (p.Ile678Arg)
c.935T>G (p.Ile312Arg)
c.1838T>G (p.Ile613Arg)
c.1943T>G (p.Ile648Arg)
17g.44254520A>GCA399782628SLC4A1c.2033T>C (p.Ile678Thr)
c.935T>C (p.Ile312Thr)
c.1838T>C (p.Ile613Thr)
c.1943T>C (p.Ile648Thr)
 dbSNP gnomAD v4
17g.44254520A>TCA399782627SLC4A1c.2033T>A (p.Ile678Lys)
c.935T>A (p.Ile312Lys)
c.1838T>A (p.Ile613Lys)
c.1943T>A (p.Ile648Lys)
17g.44254521T>ACA399782630SLC4A1c.2032A>T (p.Ile678Leu)
c.934A>T (p.Ile312Leu)
c.1837A>T (p.Ile613Leu)
c.1942A>T (p.Ile648Leu)
17g.44254521T>CCA399782631SLC4A1c.2032A>G (p.Ile678Val)
c.934A>G (p.Ile312Val)
c.1837A>G (p.Ile613Val)
c.1942A>G (p.Ile648Val)
 gnomAD v4
17g.44254521T>GCA399782633SLC4A1c.2032A>C (p.Ile678Leu)
c.934A>C (p.Ile312Leu)
c.1837A>C (p.Ile613Leu)
c.1942A>C (p.Ile648Leu)
 gnomAD v4
17g.44254522G>ACA500285338SLC4A1c.2031C>T (p.Leu677=)
c.933C>T (p.Leu311=)
c.1836C>T (p.Leu612=)
c.1941C>T (p.Leu647=)
 COSMIC
17g.44254522G>CCA500285339SLC4A1c.2031C>G (p.Leu677=)
c.933C>G (p.Leu311=)
c.1836C>G (p.Leu612=)
c.1941C>G (p.Leu647=)
17g.44254522G>TCA500285340SLC4A1c.2031C>A (p.Leu677=)
c.933C>A (p.Leu311=)
c.1836C>A (p.Leu612=)
c.1941C>A (p.Leu647=)
17g.44254523A>CCA399782634SLC4A1c.2030T>G (p.Leu677Arg)
c.932T>G (p.Leu311Arg)
c.1835T>G (p.Leu612Arg)
c.1940T>G (p.Leu647Arg)
17g.44254523A>GCA399782635SLC4A1c.2030T>C (p.Leu677Pro)
c.932T>C (p.Leu311Pro)
c.1835T>C (p.Leu612Pro)
c.1940T>C (p.Leu647Pro)
17g.44254523A>TCA399782636SLC4A1c.2030T>A (p.Leu677His)
c.932T>A (p.Leu311His)
c.1835T>A (p.Leu612His)
c.1940T>A (p.Leu647His)
17g.44254524G>ACA8600146SLC4A1c.2029C>T (p.Leu677Phe)
c.931C>T (p.Leu311Phe)
c.1834C>T (p.Leu612Phe)
c.1939C>T (p.Leu647Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254524G>CCA399782637SLC4A1c.2029C>G (p.Leu677Val)
c.931C>G (p.Leu311Val)
c.1834C>G (p.Leu612Val)
c.1939C>G (p.Leu647Val)
17g.44254524G=CA2261308258SLC4A1c.2029C= (p.Leu677=)
c.931C= (p.Leu311=)
c.1834C= (p.Leu612=)
c.1939C= (p.Leu647=)
17g.44254524G>TCA399782638SLC4A1c.2029C>A (p.Leu677Ile)
c.931C>A (p.Leu311Ile)
c.1834C>A (p.Leu612Ile)
c.1939C>A (p.Leu647Ile)
17g.44254525G>ACA500285343SLC4A1c.2028C>T (p.Ile676=)
c.930C>T (p.Ile310=)
c.1833C>T (p.Ile611=)
c.1938C>T (p.Ile646=)
17g.44254525G>CCA399782640SLC4A1c.2028C>G (p.Ile676Met)
c.930C>G (p.Ile310Met)
c.1833C>G (p.Ile611Met)
c.1938C>G (p.Ile646Met)
17g.44254525G>TCA500285348SLC4A1c.2028C>A (p.Ile676=)
c.930C>A (p.Ile310=)
c.1833C>A (p.Ile611=)
c.1938C>A (p.Ile646=)
17g.44254526A>CCA399782641SLC4A1c.2027T>G (p.Ile676Ser)
c.929T>G (p.Ile310Ser)
c.1832T>G (p.Ile611Ser)
c.1937T>G (p.Ile646Ser)
17g.44254526A>GCA399782642SLC4A1c.2027T>C (p.Ile676Thr)
c.929T>C (p.Ile310Thr)
c.1832T>C (p.Ile611Thr)
c.1937T>C (p.Ile646Thr)
17g.44254526A>TCA399782643SLC4A1c.2027T>A (p.Ile676Asn)
c.929T>A (p.Ile310Asn)
c.1832T>A (p.Ile611Asn)
c.1937T>A (p.Ile646Asn)
17g.44254527T>ACA399782646SLC4A1c.2026A>T (p.Ile676Phe)
c.928A>T (p.Ile310Phe)
c.1831A>T (p.Ile611Phe)
c.1936A>T (p.Ile646Phe)
17g.44254527T>CCA399782645SLC4A1c.2026A>G (p.Ile676Val)
c.928A>G (p.Ile310Val)
c.1831A>G (p.Ile611Val)
c.1936A>G (p.Ile646Val)
17g.44254527T>GCA399782644SLC4A1c.2026A>C (p.Ile676Leu)
c.928A>C (p.Ile310Leu)
c.1831A>C (p.Ile611Leu)
c.1936A>C (p.Ile646Leu)
17g.44254527dupCA2697559954SLC4A1c.2026dup (p.Ile676AsnfsTer18)
c.928dup (p.Ile310AsnfsTer18)
c.1831dup (p.Ile611AsnfsTer18)
c.1936dup (p.Ile646AsnfsTer18)
c.2026dup (p.Ile676AsnfsTer?)
 ClinVar
17g.44254528G>ACA500285355SLC4A1c.2025C>T (p.Phe675=)
c.927C>T (p.Phe309=)
c.1830C>T (p.Phe610=)
c.1935C>T (p.Phe645=)
17g.44254528G>CCA399782647SLC4A1c.2025C>G (p.Phe675Leu)
c.927C>G (p.Phe309Leu)
c.1830C>G (p.Phe610Leu)
c.1935C>G (p.Phe645Leu)
17g.44254528G>TCA399782648SLC4A1c.2025C>A (p.Phe675Leu)
c.927C>A (p.Phe309Leu)
c.1830C>A (p.Phe610Leu)
c.1935C>A (p.Phe645Leu)
17g.44254529A>CCA399782650SLC4A1c.2024T>G (p.Phe675Cys)
c.926T>G (p.Phe309Cys)
c.1829T>G (p.Phe610Cys)
c.1934T>G (p.Phe645Cys)
17g.44254529A>GCA399782652SLC4A1c.2024T>C (p.Phe675Ser)
c.926T>C (p.Phe309Ser)
c.1829T>C (p.Phe610Ser)
c.1934T>C (p.Phe645Ser)
17g.44254529A>TCA399782653SLC4A1c.2024T>A (p.Phe675Tyr)
c.926T>A (p.Phe309Tyr)
c.1829T>A (p.Phe610Tyr)
c.1934T>A (p.Phe645Tyr)
17g.44254530A>CCA399782654SLC4A1c.2023T>G (p.Phe675Val)
c.925T>G (p.Phe309Val)
c.1828T>G (p.Phe610Val)
c.1933T>G (p.Phe645Val)
17g.44254530A>GCA399782655SLC4A1c.2023T>C (p.Phe675Leu)
c.925T>C (p.Phe309Leu)
c.1828T>C (p.Phe610Leu)
c.1933T>C (p.Phe645Leu)
17g.44254530A>TCA399782656SLC4A1c.2023T>A (p.Phe675Ile)
c.925T>A (p.Phe309Ile)
c.1828T>A (p.Phe610Ile)
c.1933T>A (p.Phe645Ile)
17g.44254531G>ACA500285357SLC4A1c.2022C>T (p.Val674=)
c.924C>T (p.Val308=)
c.1827C>T (p.Val609=)
c.1932C>T (p.Val644=)
17g.44254531G>CCA500285359SLC4A1c.2022C>G (p.Val674=)
c.924C>G (p.Val308=)
c.1827C>G (p.Val609=)
c.1932C>G (p.Val644=)
17g.44254531G>TCA500285358SLC4A1c.2022C>A (p.Val674=)
c.924C>A (p.Val308=)
c.1827C>A (p.Val609=)
c.1932C>A (p.Val644=)
17g.44254532A>CCA399782657SLC4A1c.2021T>G (p.Val674Gly)
c.923T>G (p.Val308Gly)
c.1826T>G (p.Val609Gly)
c.1931T>G (p.Val644Gly)
17g.44254532A>GCA399782658SLC4A1c.2021T>C (p.Val674Ala)
c.923T>C (p.Val308Ala)
c.1826T>C (p.Val609Ala)
c.1931T>C (p.Val644Ala)
17g.44254532A>TCA399782659SLC4A1c.2021T>A (p.Val674Asp)
c.923T>A (p.Val308Asp)
c.1826T>A (p.Val609Asp)
c.1931T>A (p.Val644Asp)
17g.44254533C>ACA399782660SLC4A1c.2020G>T (p.Val674Phe)
c.922G>T (p.Val308Phe)
c.1825G>T (p.Val609Phe)
c.1930G>T (p.Val644Phe)
17g.44254533C=CA2261308259SLC4A1c.2020G= (p.Val674=)
c.922G= (p.Val308=)
c.1825G= (p.Val609=)
c.1930G= (p.Val644=)
17g.44254533C>GCA399782661SLC4A1c.2020G>C (p.Val674Leu)
c.922G>C (p.Val308Leu)
c.1825G>C (p.Val609Leu)
c.1930G>C (p.Val644Leu)
17g.44254533C>TCA8600147SLC4A1c.2020G>A (p.Val674Ile)
c.922G>A (p.Val308Ile)
c.1825G>A (p.Val609Ile)
c.1930G>A (p.Val644Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254534C>ACA500285363SLC4A1c.2019G>T (p.Leu673=)
c.921G>T (p.Leu307=)
c.1824G>T (p.Leu608=)
c.1929G>T (p.Leu643=)
17g.44254534C=CA2261308260SLC4A1c.2019G= (p.Leu673=)
c.921G= (p.Leu307=)
c.1824G= (p.Leu608=)
c.1929G= (p.Leu643=)
17g.44254534C>GCA500285364SLC4A1c.2019G>C (p.Leu673=)
c.921G>C (p.Leu307=)
c.1824G>C (p.Leu608=)
c.1929G>C (p.Leu643=)
17g.44254534C>TCA500285365SLC4A1c.2019G>A (p.Leu673=)
c.921G>A (p.Leu307=)
c.1824G>A (p.Leu608=)
c.1929G>A (p.Leu643=)
 ClinVar dbSNP gnomAD v4
17g.44254535A>CCA399782664SLC4A1c.2018T>G (p.Leu673Arg)
c.920T>G (p.Leu307Arg)
c.1823T>G (p.Leu608Arg)
c.1928T>G (p.Leu643Arg)
17g.44254535A>GCA399782665SLC4A1c.2018T>C (p.Leu673Pro)
c.920T>C (p.Leu307Pro)
c.1823T>C (p.Leu608Pro)
c.1928T>C (p.Leu643Pro)
 ClinVar dbSNP
17g.44254535A>TCA399782662SLC4A1c.2018T>A (p.Leu673Gln)
c.920T>A (p.Leu307Gln)
c.1823T>A (p.Leu608Gln)
c.1928T>A (p.Leu643Gln)
17g.44254536G>ACA500285368SLC4A1c.2017C>T (p.Leu673=)
c.919C>T (p.Leu307=)
c.1822C>T (p.Leu608=)
c.1927C>T (p.Leu643=)
 gnomAD v4 COSMIC
17g.44254536G>CCA399782666SLC4A1c.2017C>G (p.Leu673Val)
c.919C>G (p.Leu307Val)
c.1822C>G (p.Leu608Val)
c.1927C>G (p.Leu643Val)
17g.44254536G>TCA399782667SLC4A1c.2017C>A (p.Leu673Met)
c.919C>A (p.Leu307Met)
c.1822C>A (p.Leu608Met)
c.1927C>A (p.Leu643Met)
17g.44254537C>ACA500285369SLC4A1c.2016G>T (p.Leu672=)
c.918G>T (p.Leu306=)
c.1821G>T (p.Leu607=)
c.1926G>T (p.Leu642=)
17g.44254537C>GCA500285372SLC4A1c.2016G>C (p.Leu672=)
c.918G>C (p.Leu306=)
c.1821G>C (p.Leu607=)
c.1926G>C (p.Leu642=)
17g.44254537C>TCA500285370SLC4A1c.2016G>A (p.Leu672=)
c.918G>A (p.Leu306=)
c.1821G>A (p.Leu607=)
c.1926G>A (p.Leu642=)
 gnomAD v4
17g.44254538A>CCA399782668SLC4A1c.2015T>G (p.Leu672Arg)
c.917T>G (p.Leu306Arg)
c.1820T>G (p.Leu607Arg)
c.1925T>G (p.Leu642Arg)
17g.44254538A>GCA399782669SLC4A1c.2015T>C (p.Leu672Pro)
c.917T>C (p.Leu306Pro)
c.1820T>C (p.Leu607Pro)
c.1925T>C (p.Leu642Pro)
17g.44254538A>TCA399782670SLC4A1c.2015T>A (p.Leu672Gln)
c.917T>A (p.Leu306Gln)
c.1820T>A (p.Leu607Gln)
c.1925T>A (p.Leu642Gln)
17g.44254539G>ACA500285375SLC4A1c.2014C>T (p.Leu672=)
c.916C>T (p.Leu306=)
c.1819C>T (p.Leu607=)
c.1924C>T (p.Leu642=)
 dbSNP gnomAD v3 gnomAD v4
17g.44254539G>CCA399782671SLC4A1c.2014C>G (p.Leu672Val)
c.916C>G (p.Leu306Val)
c.1819C>G (p.Leu607Val)
c.1924C>G (p.Leu642Val)
17g.44254539G=CA2261308261SLC4A1c.2014C= (p.Leu672=)
c.916C= (p.Leu306=)
c.1819C= (p.Leu607=)
c.1924C= (p.Leu642=)
17g.44254539G>TCA399782673SLC4A1c.2014C>A (p.Leu672Met)
c.916C>A (p.Leu306Met)
c.1819C>A (p.Leu607Met)
c.1924C>A (p.Leu642Met)
17g.44254540A>CCA500285376SLC4A1c.2013T>G (p.Ala671=)
c.915T>G (p.Ala305=)
c.1818T>G (p.Ala606=)
c.1923T>G (p.Ala641=)
17g.44254540A>GCA500285377SLC4A1c.2013T>C (p.Ala671=)
c.915T>C (p.Ala305=)
c.1818T>C (p.Ala606=)
c.1923T>C (p.Ala641=)
17g.44254540A>TCA500285378SLC4A1c.2013T>A (p.Ala671=)
c.915T>A (p.Ala305=)
c.1818T>A (p.Ala606=)
c.1923T>A (p.Ala641=)
 gnomAD v4
17g.44254541G>ACA399782675SLC4A1c.2012C>T (p.Ala671Val)
c.914C>T (p.Ala305Val)
c.1817C>T (p.Ala606Val)
c.1922C>T (p.Ala641Val)
 dbSNP gnomAD v2 gnomAD v4
17g.44254541G>CCA399782677SLC4A1c.2012C>G (p.Ala671Gly)
c.914C>G (p.Ala305Gly)
c.1817C>G (p.Ala606Gly)
c.1922C>G (p.Ala641Gly)
17g.44254541G=CA2261308262SLC4A1c.2012C= (p.Ala671=)
c.914C= (p.Ala305=)
c.1817C= (p.Ala606=)
c.1922C= (p.Ala641=)
17g.44254541G>TCA399782678SLC4A1c.2012C>A (p.Ala671Asp)
c.914C>A (p.Ala305Asp)
c.1817C>A (p.Ala606Asp)
c.1922C>A (p.Ala641Asp)
17g.44254542C>ACA399782681SLC4A1c.2011G>T (p.Ala671Ser)
c.913G>T (p.Ala305Ser)
c.1816G>T (p.Ala606Ser)
c.1921G>T (p.Ala641Ser)
17g.44254542C>GCA399782686SLC4A1c.2011G>C (p.Ala671Pro)
c.913G>C (p.Ala305Pro)
c.1816G>C (p.Ala606Pro)
c.1921G>C (p.Ala641Pro)
 ClinVar
17g.44254542C>TCA399782687SLC4A1c.2011G>A (p.Ala671Thr)
c.913G>A (p.Ala305Thr)
c.1816G>A (p.Ala606Thr)
c.1921G>A (p.Ala641Thr)
 gnomAD v4
17g.44254543A>CCA500285379SLC4A1c.2010T>G (p.Pro670=)
c.912T>G (p.Pro304=)
c.1815T>G (p.Pro605=)
c.1920T>G (p.Pro640=)
17g.44254543A>GCA500285380SLC4A1c.2010T>C (p.Pro670=)
c.912T>C (p.Pro304=)
c.1815T>C (p.Pro605=)
c.1920T>C (p.Pro640=)
17g.44254543A>TCA500285381SLC4A1c.2010T>A (p.Pro670=)
c.912T>A (p.Pro304=)
c.1815T>A (p.Pro605=)
c.1920T>A (p.Pro640=)
17g.44254544G>ACA399782690SLC4A1c.2009C>T (p.Pro670Leu)
c.911C>T (p.Pro304Leu)
c.1814C>T (p.Pro605Leu)
c.1919C>T (p.Pro640Leu)
 gnomAD v4
17g.44254544G>CCA399782688SLC4A1c.2009C>G (p.Pro670Arg)
c.911C>G (p.Pro304Arg)
c.1814C>G (p.Pro605Arg)
c.1919C>G (p.Pro640Arg)
 ClinVar
17g.44254544G>TCA399782689SLC4A1c.2009C>A (p.Pro670His)
c.911C>A (p.Pro304His)
c.1814C>A (p.Pro605His)
c.1919C>A (p.Pro640His)
17g.44254545G>ACA399782691SLC4A1c.2008C>T (p.Pro670Ser)
c.910C>T (p.Pro304Ser)
c.1813C>T (p.Pro605Ser)
c.1918C>T (p.Pro640Ser)
17g.44254545G>CCA290928466SLC4A1c.2008C>G (p.Pro670Ala)
c.910C>G (p.Pro304Ala)
c.1813C>G (p.Pro605Ala)
c.1918C>G (p.Pro640Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44254545G=CA2261308263SLC4A1c.2008C= (p.Pro670=)
c.910C= (p.Pro304=)
c.1813C= (p.Pro605=)
c.1918C= (p.Pro640=)
17g.44254545G>TCA399782692SLC4A1c.2008C>A (p.Pro670Thr)
c.910C>A (p.Pro304Thr)
c.1813C>A (p.Pro605Thr)
c.1918C>A (p.Pro640Thr)
17g.44254546C>ACA500285384SLC4A1c.2007G>T (p.Leu669=)
c.909G>T (p.Leu303=)
c.1812G>T (p.Leu604=)
c.1917G>T (p.Leu639=)
17g.44254546C>GCA500285382SLC4A1c.2007G>C (p.Leu669=)
c.909G>C (p.Leu303=)
c.1812G>C (p.Leu604=)
c.1917G>C (p.Leu639=)
17g.44254546C>TCA500285383SLC4A1c.2007G>A (p.Leu669=)
c.909G>A (p.Leu303=)
c.1812G>A (p.Leu604=)
c.1917G>A (p.Leu639=)
17g.44254547A>CCA399782693SLC4A1c.2006T>G (p.Leu669Arg)
c.908T>G (p.Leu303Arg)
c.1811T>G (p.Leu604Arg)
c.1916T>G (p.Leu639Arg)
17g.44254547A>GCA399782695SLC4A1c.2006T>C (p.Leu669Pro)
c.908T>C (p.Leu303Pro)
c.1811T>C (p.Leu604Pro)
c.1916T>C (p.Leu639Pro)
 gnomAD v4
17g.44254547A>TCA399782697SLC4A1c.2006T>A (p.Leu669Gln)
c.908T>A (p.Leu303Gln)
c.1811T>A (p.Leu604Gln)
c.1916T>A (p.Leu639Gln)
17g.44254548G>ACA500285385SLC4A1c.2005C>T (p.Leu669=)
c.907C>T (p.Leu303=)
c.1810C>T (p.Leu604=)
c.1915C>T (p.Leu639=)
17g.44254548G>CCA399782699SLC4A1c.2005C>G (p.Leu669Val)
c.907C>G (p.Leu303Val)
c.1810C>G (p.Leu604Val)
c.1915C>G (p.Leu639Val)
17g.44254548G>TCA399782701SLC4A1c.2005C>A (p.Leu669Met)
c.907C>A (p.Leu303Met)
c.1810C>A (p.Leu604Met)
c.1915C>A (p.Leu639Met)
17g.44254549G>ACA500285386SLC4A1c.2004C>T (p.Ala668=)
c.906C>T (p.Ala302=)
c.1809C>T (p.Ala603=)
c.1914C>T (p.Ala638=)
17g.44254549G>CCA500285387SLC4A1c.2004C>G (p.Ala668=)
c.906C>G (p.Ala302=)
c.1809C>G (p.Ala603=)
c.1914C>G (p.Ala638=)
17g.44254549G>TCA500285388SLC4A1c.2004C>A (p.Ala668=)
c.906C>A (p.Ala302=)
c.1809C>A (p.Ala603=)
c.1914C>A (p.Ala638=)
17g.44254550G>ACA399782702SLC4A1c.2003C>T (p.Ala668Val)
c.905C>T (p.Ala302Val)
c.1808C>T (p.Ala603Val)
c.1913C>T (p.Ala638Val)
 dbSNP gnomAD v4
17g.44254550G>CCA399782705SLC4A1c.2003C>G (p.Ala668Gly)
c.905C>G (p.Ala302Gly)
c.1808C>G (p.Ala603Gly)
c.1913C>G (p.Ala638Gly)
 gnomAD v4
17g.44254550G=CA2261308264SLC4A1c.2003C= (p.Ala668=)
c.905C= (p.Ala302=)
c.1808C= (p.Ala603=)
c.1913C= (p.Ala638=)
17g.44254550G>TCA399782708SLC4A1c.2003C>A (p.Ala668Asp)
c.905C>A (p.Ala302Asp)
c.1808C>A (p.Ala603Asp)
c.1913C>A (p.Ala638Asp)
17g.44254551C>ACA399782712SLC4A1c.2002G>T (p.Ala668Ser)
c.904G>T (p.Ala302Ser)
c.1807G>T (p.Ala603Ser)
c.1912G>T (p.Ala638Ser)
 ClinVar gnomAD v4
17g.44254551C=CA2261308265SLC4A1c.2002G= (p.Ala668=)
c.904G= (p.Ala302=)
c.1807G= (p.Ala603=)
c.1912G= (p.Ala638=)
17g.44254551C>GCA399782727SLC4A1c.2002G>C (p.Ala668Pro)
c.904G>C (p.Ala302Pro)
c.1807G>C (p.Ala603Pro)
c.1912G>C (p.Ala638Pro)
17g.44254551C>TCA8600148SLC4A1c.2002G>A (p.Ala668Thr)
c.904G>A (p.Ala302Thr)
c.1807G>A (p.Ala603Thr)
c.1912G>A (p.Ala638Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254552G>ACA8600149SLC4A1c.2001C>T (p.Ser667=)
c.903C>T (p.Ser301=)
c.1806C>T (p.Ser602=)
c.1911C>T (p.Ser637=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254552G>CCA500285389SLC4A1c.2001C>G (p.Ser667=)
c.903C>G (p.Ser301=)
c.1806C>G (p.Ser602=)
c.1911C>G (p.Ser637=)
17g.44254552G=CA2261308266SLC4A1c.2001C= (p.Ser667=)
c.903C= (p.Ser301=)
c.1806C= (p.Ser602=)
c.1911C= (p.Ser637=)
17g.44254552G>TCA500285390SLC4A1c.2001C>A (p.Ser667=)
c.903C>A (p.Ser301=)
c.1806C>A (p.Ser602=)
c.1911C>A (p.Ser637=)
 gnomAD v4
17g.44254553G>ACA399782731SLC4A1c.2000C>T (p.Ser667Phe)
c.902C>T (p.Ser301Phe)
c.1805C>T (p.Ser602Phe)
c.1910C>T (p.Ser637Phe)
 gnomAD v4
17g.44254553G>CCA399782730SLC4A1c.2000C>G (p.Ser667Cys)
c.902C>G (p.Ser301Cys)
c.1805C>G (p.Ser602Cys)
c.1910C>G (p.Ser637Cys)
17g.44254553G>TCA399782732SLC4A1c.2000C>A (p.Ser667Tyr)
c.902C>A (p.Ser301Tyr)
c.1805C>A (p.Ser602Tyr)
c.1910C>A (p.Ser637Tyr)
 ClinVar
17g.44254554A=CA2261308267SLC4A1c.1999T= (p.Ser667=)
c.901T= (p.Ser301=)
c.1804T= (p.Ser602=)
c.1909T= (p.Ser637=)
17g.44254554A>CCA399782733SLC4A1c.1999T>G (p.Ser667Ala)
c.901T>G (p.Ser301Ala)
c.1804T>G (p.Ser602Ala)
c.1909T>G (p.Ser637Ala)
17g.44254554A>GCA399782734SLC4A1c.1999T>C (p.Ser667Pro)
c.901T>C (p.Ser301Pro)
c.1804T>C (p.Ser602Pro)
c.1909T>C (p.Ser637Pro)
 gnomAD v4
17g.44254554A>TCA8600150SLC4A1c.1999T>A (p.Ser667Thr)
c.901T>A (p.Ser301Thr)
c.1804T>A (p.Ser602Thr)
c.1909T>A (p.Ser637Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254555G>ACA500285394SLC4A1c.1998C>T (p.Ala666=)
c.900C>T (p.Ala300=)
c.1803C>T (p.Ala601=)
c.1908C>T (p.Ala636=)
 dbSNP gnomAD v2 gnomAD v4
17g.44254555G>CCA500285395SLC4A1c.1998C>G (p.Ala666=)
c.900C>G (p.Ala300=)
c.1803C>G (p.Ala601=)
c.1908C>G (p.Ala636=)
17g.44254555G=CA2261308268SLC4A1c.1998C= (p.Ala666=)
c.900C= (p.Ala300=)
c.1803C= (p.Ala601=)
c.1908C= (p.Ala636=)
17g.44254555G>TCA500285397SLC4A1c.1998C>A (p.Ala666=)
c.900C>A (p.Ala300=)
c.1803C>A (p.Ala601=)
c.1908C>A (p.Ala636=)
 dbSNP gnomAD v3 gnomAD v4
17g.44254556G>ACA399782735SLC4A1c.1997C>T (p.Ala666Val)
c.899C>T (p.Ala300Val)
c.1802C>T (p.Ala601Val)
c.1907C>T (p.Ala636Val)
17g.44254556G>CCA399782736SLC4A1c.1997C>G (p.Ala666Gly)
c.899C>G (p.Ala300Gly)
c.1802C>G (p.Ala601Gly)
c.1907C>G (p.Ala636Gly)
17g.44254556G>TCA399782738SLC4A1c.1997C>A (p.Ala666Asp)
c.899C>A (p.Ala300Asp)
c.1802C>A (p.Ala601Asp)
c.1907C>A (p.Ala636Asp)
17g.44254557C>ACA399782743SLC4A1c.1996G>T (p.Ala666Ser)
c.898G>T (p.Ala300Ser)
c.1801G>T (p.Ala601Ser)
c.1906G>T (p.Ala636Ser)
17g.44254557C>GCA399782741SLC4A1c.1996G>C (p.Ala666Pro)
c.898G>C (p.Ala300Pro)
c.1801G>C (p.Ala601Pro)
c.1906G>C (p.Ala636Pro)
17g.44254557C>TCA399782742SLC4A1c.1996G>A (p.Ala666Thr)
c.898G>A (p.Ala300Thr)
c.1801G>A (p.Ala601Thr)
c.1906G>A (p.Ala636Thr)
17g.44254558A>CCA399782744SLC4A1c.1995T>G (p.Phe665Leu)
c.897T>G (p.Phe299Leu)
c.1800T>G (p.Phe600Leu)
c.1905T>G (p.Phe635Leu)
17g.44254558A>GCA500285500SLC4A1c.1995T>C (p.Phe665=)
c.897T>C (p.Phe299=)
c.1800T>C (p.Phe600=)
c.1905T>C (p.Phe635=)
17g.44254558A>TCA399782745SLC4A1c.1995T>A (p.Phe665Leu)
c.897T>A (p.Phe299Leu)
c.1800T>A (p.Phe600Leu)
c.1905T>A (p.Phe635Leu)
17g.44254558_44254561delinsAAACCA2261308269SLC4A1c.1992_1995delinsGTTT (p.Met664=)
c.894_897delinsGTTT (p.Met298=)
c.1797_1800delinsGTTT (p.Met599=)
c.1902_1905delinsGTTT (p.Met634=)
17g.44254559A>CCA399782746SLC4A1c.1994T>G (p.Phe665Cys)
c.896T>G (p.Phe299Cys)
c.1799T>G (p.Phe600Cys)
c.1904T>G (p.Phe635Cys)
17g.44254559A>GCA399782747SLC4A1c.1994T>C (p.Phe665Ser)
c.896T>C (p.Phe299Ser)
c.1799T>C (p.Phe600Ser)
c.1904T>C (p.Phe635Ser)
17g.44254559A>TCA399782748SLC4A1c.1994T>A (p.Phe665Tyr)
c.896T>A (p.Phe299Tyr)
c.1799T>A (p.Phe600Tyr)
c.1904T>A (p.Phe635Tyr)
17g.44254560_44254562delCA2261308270SLC4A1c.1992_1994del (p.Met664_Phe665delinsIle)
c.894_896del (p.Met298_Phe299delinsIle)
c.1797_1799del (p.Met599_Phe600delinsIle)
c.1902_1904del (p.Met634_Phe635delinsIle)
 dbSNP
17g.44254560A=CA2261308271SLC4A1c.1993T= (p.Phe665=)
c.895T= (p.Phe299=)
c.1798T= (p.Phe600=)
c.1903T= (p.Phe635=)
17g.44254560A>CCA399782752SLC4A1c.1993T>G (p.Phe665Val)
c.895T>G (p.Phe299Val)
c.1798T>G (p.Phe600Val)
c.1903T>G (p.Phe635Val)
17g.44254560A>GCA399782749SLC4A1c.1993T>C (p.Phe665Leu)
c.895T>C (p.Phe299Leu)
c.1798T>C (p.Phe600Leu)
c.1903T>C (p.Phe635Leu)
 dbSNP gnomAD v3 gnomAD v4
17g.44254560A>TCA399782751SLC4A1c.1993T>A (p.Phe665Ile)
c.895T>A (p.Phe299Ile)
c.1798T>A (p.Phe600Ile)
c.1903T>A (p.Phe635Ile)
17g.44254561C>ACA399782755SLC4A1c.1992G>T (p.Met664Ile)
c.894G>T (p.Met298Ile)
c.1797G>T (p.Met599Ile)
c.1902G>T (p.Met634Ile)
17g.44254561C>GCA399782759SLC4A1c.1992G>C (p.Met664Ile)
c.894G>C (p.Met298Ile)
c.1797G>C (p.Met599Ile)
c.1902G>C (p.Met634Ile)
17g.44254561C>TCA399782761SLC4A1c.1992G>A (p.Met664Ile)
c.894G>A (p.Met298Ile)
c.1797G>A (p.Met599Ile)
c.1902G>A (p.Met634Ile)
17g.44254565_44254567delCA2580613150SLC4A1c.1990_1992del (p.Met664del)
c.892_894del (p.Met298del)
c.1795_1797del (p.Met599del)
c.1900_1902del (p.Met634del)
 ClinVar gnomAD v4

Number of alleles fetched