Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44254457_44254478del | CA2638191116 | SLC4A1 | c.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 |
17 | g.44254462_44254469del | CA2576289169 | SLC4A1 | c.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 |
17 | g.44254457_44254474del | CA2638191123 | SLC4A1 | c.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 |
17 | g.44254458_44254470del | CA2638191146 | SLC4A1 | c.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 |
17 | g.44254466_44254486del | CA2638191147 | SLC4A1 | c.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 |
17 | g.44254461_44254477del | CA2638191164 | SLC4A1 | c.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 |
17 | g.44254461_44254465del | CA2638191169 | SLC4A1 | c.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 |
17 | g.44254461_44254476del | CA2638191168 | SLC4A1 | c.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 |
17 | g.44254465_44254468del | CA2638191182 | SLC4A1 | c.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 |
17 | g.44254465_44254474del | CA2638191183 | SLC4A1 | c.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 |
17 | g.44254465_44254480del | CA2638191184 | SLC4A1 | c.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 |
17 | g.44254465_44254467del | CA2638191204 | SLC4A1 | c.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 |
17 | g.44254465_44254473del | CA2638191207 | SLC4A1 | c.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 |
17 | g.44254465_44254466del | CA2638191214 | SLC4A1 | c.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 |
17 | g.44254465_44254472del | CA2638191213 | SLC4A1 | c.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 |
17 | g.44254465_44254477del | CA2638191212 | SLC4A1 | c.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 |
17 | g.44254465del | CA2638191220 | SLC4A1 | c.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 |
17 | g.44254465T>A | CA984004608 | SLC4A1 | c.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 |
17 | g.44254465T>C | CA984004611 | SLC4A1 | c.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 |
17 | g.44254465T>G | CA2638191216 | SLC4A1 | c.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 |
17 | g.44254465T= | CA2261308231 | SLC4A1 | c.2057+31A= (n.2057+31A=) c.959+31A= (n.959+31A=) c.1862+31A= (n.1862+31A=) c.1967+31A= (n.1967+31A=) | |
17 | g.44254465_44254469del | CA2638191219 | SLC4A1 | c.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 |
17 | g.44254465_44254471del | CA2638191218 | SLC4A1 | c.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 |
17 | g.44254465_44254476del | CA2638191217 | SLC4A1 | c.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 |
17 | g.44254465_44254466insA | CA2638191230 | SLC4A1 | c.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 |
17 | g.44254465_44254466insAC | CA2638191229 | SLC4A1 | c.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 |
17 | g.44254466C>A | CA626124715 | SLC4A1 | c.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 |
17 | g.44254466C= | CA2261308232 | SLC4A1 | c.2057+30G= (n.2057+30G=) c.959+30G= (n.959+30G=) c.1862+30G= (n.1862+30G=) c.1967+30G= (n.1967+30G=) | |
17 | g.44254466C>G | CA2261308233 | SLC4A1 | c.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 |
17 | g.44254466C>T | CA2576289179 | SLC4A1 | c.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 |
17 | g.44254468dup | CA2638191228 | SLC4A1 | c.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 |
17 | g.44254468del | CA2638191227 | SLC4A1 | c.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 |
17 | g.44254467C>A | CA2638191233 | SLC4A1 | c.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 |
17 | g.44254467C= | CA2261308234 | SLC4A1 | c.2057+29G= (n.2057+29G=) c.959+29G= (n.959+29G=) c.1862+29G= (n.1862+29G=) c.1967+29G= (n.1967+29G=) | |
17 | g.44254467C>G | CA8600135 | SLC4A1 | c.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 |
17 | g.44254467C>T | CA2638191234 | SLC4A1 | c.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 |
17 | g.44254468_44254469insCCGGCCCCCCCCCCAACC | CA2638191231 | SLC4A1 | c.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 |
17 | g.44254469_44254473del | CA2638191232 | SLC4A1 | c.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 |
17 | g.44254468C>A | CA2638191236 | SLC4A1 | c.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 |
17 | g.44254468C= | CA2261308235 | SLC4A1 | c.2057+28G= (n.2057+28G=) c.959+28G= (n.959+28G=) c.1862+28G= (n.1862+28G=) c.1967+28G= (n.1967+28G=) | |
17 | g.44254468C>T | CA626124716 | SLC4A1 | c.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 |
17 | g.44254468_44254469insCCGC | CA2809585925 | SLC4A1 | c.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) | |
17 | g.44254468_44254469del | CA2638191238 | SLC4A1 | c.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 |
17 | g.44254468_44254470del | CA2638191235 | SLC4A1 | c.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 |
17 | g.44254469_44254472del | CA2638191237 | SLC4A1 | c.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 |
17 | g.44254469_44254477del | CA2638191239 | SLC4A1 | c.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 |
17 | g.44254469del | CA2638191240 | SLC4A1 | c.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 |
17 | g.44254469A>C | CA984004614 | SLC4A1 | c.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 |
17 | g.44254469A>G | CA2638191242 | SLC4A1 | c.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 |
17 | g.44254469_44254470del | CA2594317019 | SLC4A1 | c.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 |
17 | g.44254469_44254471del | CA2594317020 | SLC4A1 | c.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 |
17 | g.44254469_44254476del | CA2638191241 | SLC4A1 | c.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 |
17 | g.44254469_44254470insC | CA2638191248 | SLC4A1 | c.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 |
17 | g.44254469_44254470insACCC | CA2638191250 | SLC4A1 | c.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 |
17 | g.44254469_44254470insACCCC | CA2638191251 | SLC4A1 | c.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 |
17 | g.44254469_44254470insACCCG | CA2638191249 | SLC4A1 | c.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 |
17 | g.44254470G>A | CA626124717 | SLC4A1 | c.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 |
17 | g.44254470G>C | CA984004616 | SLC4A1 | c.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 |
17 | g.44254470G= | CA2261308236 | SLC4A1 | c.2057+26C= (n.2057+26C=) c.959+26C= (n.959+26C=) c.1862+26C= (n.1862+26C=) c.1967+26C= (n.1967+26C=) | |
17 | g.44254470G>T | CA2638191243 | SLC4A1 | c.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 |
17 | g.44254470_44254471del | CA2638191252 | SLC4A1 | c.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 |
17 | g.44254471del | CA2638191247 | SLC4A1 | c.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 |
17 | g.44254470_44254473del | CA2638191246 | SLC4A1 | c.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 |
17 | g.44254470_44254474del | CA2638191245 | SLC4A1 | c.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 |
17 | g.44254470_44254476del | CA2638191244 | SLC4A1 | c.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 |
17 | g.44254471G>A | CA2638191253 | SLC4A1 | c.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 |
17 | g.44254471G>C | CA2638191254 | SLC4A1 | c.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 |
17 | g.44254471G>T | CA2638191255 | SLC4A1 | c.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 |
17 | g.44254471_44254472delinsGC | CA2261308237 | SLC4A1 | c.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) | |
17 | g.44254471_44254472insGC | CA2638191261 | SLC4A1 | c.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 |
17 | g.44254471_44254472insGCC | CA2638191256 | SLC4A1 | c.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 |
17 | g.44254472C>A | CA2638191258 | SLC4A1 | c.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 |
17 | g.44254472C>G | CA2576289180 | SLC4A1 | c.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 |
17 | g.44254472C>T | CA2638191257 | SLC4A1 | c.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 |
17 | g.44254474_44254475insCCCC | CA2638191264 | SLC4A1 | c.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 |
17 | g.44254474_44254475insCCCCCCC | CA2809585927 | SLC4A1 | c.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) | |
17 | g.44254474_44254475insCCCCCCCCCCC | CA2638191263 | SLC4A1 | c.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 |
17 | g.44254474_44254475insCCCCCCCCCCCC | CA2638191262 | SLC4A1 | c.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 |
17 | g.44254474del | CA8600136 | SLC4A1 | c.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 |
17 | g.44254472_44254475del | CA2638191260 | SLC4A1 | c.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 |
17 | g.44254475_44254480del | CA2638191259 | SLC4A1 | c.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 |
17 | g.44254473C>A | CA2638191265 | SLC4A1 | c.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 |
17 | g.44254473C>T | CA2576289181 | SLC4A1 | c.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 |
17 | g.44254474C>A | CA2638191267 | SLC4A1 | c.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 |
17 | g.44254474C>T | CA2576289182 | SLC4A1 | c.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 |
17 | g.44254474_44254475del | CA2594317021 | SLC4A1 | c.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 |
17 | g.44254475_44254477del | CA2638191266 | SLC4A1 | c.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 |
17 | g.44254475del | CA2638191269 | SLC4A1 | c.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 |
17 | g.44254475A>C | CA984004617 | SLC4A1 | c.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 |
17 | g.44254475A>G | CA2638191268 | SLC4A1 | c.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 |
17 | g.44254475_44254476del | CA2594317022 | SLC4A1 | c.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 |
17 | g.44254475_44254476insCCC | CA2638191271 | SLC4A1 | c.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 |
17 | g.44254475_44254476insACCC | CA2638191270 | SLC4A1 | c.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 |
17 | g.44254475_44254476insCCCC | CA2638191272 | SLC4A1 | c.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 |
17 | g.44254475_44254476insCCCCCCCCCCCC | CA2638191273 | SLC4A1 | c.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 |
17 | g.44254476del | CA2638191274 | SLC4A1 | c.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 |
17 | g.44254476G>A | CA2638191275 | SLC4A1 | c.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 |
17 | g.44254476G>C | CA984004618 | SLC4A1 | c.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 |
17 | g.44254476G>T | CA2566087218 | SLC4A1 | c.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 |
17 | g.44254477C= | CA2261308239 | SLC4A1 | c.2057+19G= (n.2057+19G=) c.959+19G= (n.959+19G=) c.1862+19G= (n.1862+19G=) c.1967+19G= (n.1967+19G=) | |
17 | g.44254477C>G | CA2261308238 | SLC4A1 | c.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 |
17 | g.44254477C>T | CA8600137 | SLC4A1 | c.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 |
17 | g.44254481_44254482insCCCCCC | CA2809585934 | SLC4A1 | c.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) | |
17 | g.44254481dup | CA2638191278 | SLC4A1 | c.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 |
17 | g.44254479_44254481dup | CA2809585932 | SLC4A1 | c.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) | |
17 | g.44254478_44254481dup | CA2809585933 | SLC4A1 | c.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) | |
17 | g.44254477_44254481dup | CA2638191277 | SLC4A1 | c.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 |
17 | g.44254481del | CA2638191279 | SLC4A1 | c.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 |
17 | g.44254480_44254485del | CA2638191276 | SLC4A1 | c.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 |
17 | g.44254478C>A | CA2638191280 | SLC4A1 | c.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 |
17 | g.44254478C= | CA2261308240 | SLC4A1 | c.2057+18G= (n.2057+18G=) c.959+18G= (n.959+18G=) c.1862+18G= (n.1862+18G=) c.1967+18G= (n.1967+18G=) | |
17 | g.44254478C>G | CA2638191281 | SLC4A1 | c.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 |
17 | g.44254478C>T | CA984004620 | SLC4A1 | c.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 |
17 | g.44254479C>A | CA626124718 | SLC4A1 | c.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 |
17 | g.44254479C= | CA2261308241 | SLC4A1 | c.2057+17G= (n.2057+17G=) c.959+17G= (n.959+17G=) c.1862+17G= (n.1862+17G=) c.1967+17G= (n.1967+17G=) | |
17 | g.44254479C>G | CA2261308242 | SLC4A1 | c.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 |
17 | g.44254479C>T | CA2638191282 | SLC4A1 | c.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 |
17 | g.44254480C>A | CA2638191284 | SLC4A1 | c.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 |
17 | g.44254480C>T | CA2638191283 | SLC4A1 | c.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 |
17 | g.44254481C>A | CA8600138 | SLC4A1 | c.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 |
17 | g.44254481C= | CA2261308243 | SLC4A1 | c.2057+15G= (n.2057+15G=) c.959+15G= (n.959+15G=) c.1862+15G= (n.1862+15G=) c.1967+15G= (n.1967+15G=) | |
17 | g.44254481C>G | CA2638191285 | SLC4A1 | c.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 |
17 | g.44254481C>T | CA2638191286 | SLC4A1 | c.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 |
17 | g.44254482del | CA2638191287 | SLC4A1 | c.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 |
17 | g.44254482A>C | CA984004624 | SLC4A1 | c.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 |
17 | g.44254483C>A | CA772278812 | SLC4A1 | c.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 |
17 | g.44254483C= | CA2261308244 | SLC4A1 | c.2057+13G= (n.2057+13G=) c.959+13G= (n.959+13G=) c.1862+13G= (n.1862+13G=) c.1967+13G= (n.1967+13G=) | |
17 | g.44254483C>T | CA8600139 | SLC4A1 | c.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 |
17 | g.44254483_44254486del | CA2638191288 | SLC4A1 | c.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 |
17 | g.44254484C>A | CA2638191289 | SLC4A1 | c.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 |
17 | g.44254485C>A | CA2512303226 | SLC4A1 | c.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 |
17 | g.44254485C>T | CA2638191290 | SLC4A1 | c.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 |
17 | g.44254485_44254486delinsCT | CA2261308245 | SLC4A1 | c.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) | |
17 | g.44254485_44254486insCAG | CA2638191291 | SLC4A1 | c.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 |
17 | g.44254485_44254486insCCAG | CA2638191293 | SLC4A1 | c.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 |
17 | g.44254486del | CA626124719 | SLC4A1 | c.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 |
17 | g.44254486T>A | CA984004628 | SLC4A1 | c.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 |
17 | g.44254486T>C | CA626124720 | SLC4A1 | c.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 |
17 | g.44254486T>G | CA2638191292 | SLC4A1 | c.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 |
17 | g.44254486T= | CA2261308246 | SLC4A1 | c.2057+10A= (n.2057+10A=) c.959+10A= (n.959+10A=) c.1862+10A= (n.1862+10A=) c.1967+10A= (n.1967+10A=) | |
17 | g.44254487G>A | CA8600140 | SLC4A1 | c.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 |
17 | g.44254487G>C | CA2638191295 | SLC4A1 | c.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 |
17 | g.44254487G= | CA2261308247 | SLC4A1 | c.2057+9C= (n.2057+9C=) c.959+9C= (n.959+9C=) c.1862+9C= (n.1862+9C=) c.1967+9C= (n.1967+9C=) | |
17 | g.44254487G>T | CA2638191294 | SLC4A1 | c.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 |
17 | g.44254487_44254489delinsGTC | CA2261308248 | SLC4A1 | c.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) | |
17 | g.44254488T>C | CA2638191297 | SLC4A1 | c.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 |
17 | g.44254488T>G | CA2638191296 | SLC4A1 | c.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 |
17 | g.44254492_44254493del | CA626124721 | SLC4A1 | c.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 |
17 | g.44254489C>A | CA2638191298 | SLC4A1 | c.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 |
17 | g.44254489C>G | CA2576289183 | SLC4A1 | c.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 |
17 | g.44254490del | CA2809585936 | SLC4A1 | c.2057+6del (n.2057+6del) c.959+6del (n.959+6del) c.1862+6del (n.1862+6del) c.1967+6del (n.1967+6del) | |
17 | g.44254490T>A | CA2638191299 | SLC4A1 | c.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 |
17 | g.44254490T>C | CA2638191300 | SLC4A1 | c.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 |
17 | g.44254490T>G | CA2638191301 | SLC4A1 | c.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 |
17 | g.44254491C>A | CA2638191302 | SLC4A1 | c.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 |
17 | g.44254491_44254495delinsTTCAT | CA2695226321 | SLC4A1 | c.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) | |
17 | g.44254492T>A | CA2638191303 | SLC4A1 | c.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 |
17 | g.44254492T>C | CA2638191304 | SLC4A1 | c.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 |
17 | g.44254493C>A | CA2638191305 | SLC4A1 | c.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 |
17 | g.44254493C>T | CA2809585937 | SLC4A1 | c.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) | |
17 | g.44254494A>C | CA399782507 | SLC4A1 | c.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 |
17 | g.44254494A>G | CA399782512 | SLC4A1 | c.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) | |
17 | g.44254494A>T | CA399782509 | SLC4A1 | c.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) | |
17 | g.44254495C>A | CA399782514 | SLC4A1 | c.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 |
17 | g.44254495C= | CA2261308249 | SLC4A1 | c.2057+1G= (n.2057+1G=) c.959+1G= (n.959+1G=) c.1862+1G= (n.1862+1G=) c.1967+1G= (n.1967+1G=) | |
17 | g.44254495C>G | CA399782517 | SLC4A1 | c.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 |
17 | g.44254495C>T | CA399782515 | SLC4A1 | c.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 |
17 | g.44254496G>A | CA8600141 | SLC4A1 | c.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 |
17 | g.44254496G>C | CA399782520 | SLC4A1 | c.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 |
17 | g.44254496G= | CA2261308250 | SLC4A1 | c.2057C= (p.Thr686=) c.959C= (p.Thr320=) c.1862C= (p.Thr621=) c.1967C= (p.Thr656=) | |
17 | g.44254496G>T | CA8600142 | SLC4A1 | c.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 |
17 | g.44254497T>A | CA399782524 | SLC4A1 | c.2056A>T (p.Thr686Ser) c.958A>T (p.Thr320Ser) c.1861A>T (p.Thr621Ser) c.1966A>T (p.Thr656Ser) | |
17 | g.44254497T>C | CA399782526 | SLC4A1 | c.2056A>G (p.Thr686Ala) c.958A>G (p.Thr320Ala) c.1861A>G (p.Thr621Ala) c.1966A>G (p.Thr656Ala) | |
17 | g.44254497T>G | CA399782529 | SLC4A1 | c.2056A>C (p.Thr686Pro) c.958A>C (p.Thr320Pro) c.1861A>C (p.Thr621Pro) c.1966A>C (p.Thr656Pro) | |
17 | g.44254498G>A | CA8600143 | SLC4A1 | c.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 |
17 | g.44254498G>C | CA500285284 | SLC4A1 | c.2055C>G (p.Thr685=) c.957C>G (p.Thr319=) c.1860C>G (p.Thr620=) c.1965C>G (p.Thr655=) | |
17 | g.44254498G= | CA2261308251 | SLC4A1 | c.2055C= (p.Thr685=) c.957C= (p.Thr319=) c.1860C= (p.Thr620=) c.1965C= (p.Thr655=) | |
17 | g.44254498G>T | CA500285286 | SLC4A1 | c.2055C>A (p.Thr685=) c.957C>A (p.Thr319=) c.1860C>A (p.Thr620=) c.1965C>A (p.Thr655=) | gnomAD v4 |
17 | g.44254499del | CA2638191306 | SLC4A1 | c.2055del (p.Thr686ArgfsTer2) c.957del (p.Thr320ArgfsTer2) c.1860del (p.Thr621ArgfsTer2) c.1965del (p.Thr656ArgfsTer2) c.2055del (p.Thr686LeufsTer?) | gnomAD v4 |
17 | g.44254499G>A | CA399782532 | SLC4A1 | c.2054C>T (p.Thr685Ile) c.956C>T (p.Thr319Ile) c.1859C>T (p.Thr620Ile) c.1964C>T (p.Thr655Ile) | |
17 | g.44254499G>C | CA399782533 | SLC4A1 | c.2054C>G (p.Thr685Ser) c.956C>G (p.Thr319Ser) c.1859C>G (p.Thr620Ser) c.1964C>G (p.Thr655Ser) | |
17 | g.44254499G>T | CA399782535 | SLC4A1 | c.2054C>A (p.Thr685Asn) c.956C>A (p.Thr319Asn) c.1859C>A (p.Thr620Asn) c.1964C>A (p.Thr655Asn) | |
17 | g.44254500T>A | CA399782540 | SLC4A1 | c.2053A>T (p.Thr685Ser) c.955A>T (p.Thr319Ser) c.1858A>T (p.Thr620Ser) c.1963A>T (p.Thr655Ser) | |
17 | g.44254500T>C | CA8600144 | SLC4A1 | c.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 |
17 | g.44254500T>G | CA399782537 | SLC4A1 | c.2053A>C (p.Thr685Pro) c.955A>C (p.Thr319Pro) c.1858A>C (p.Thr620Pro) c.1963A>C (p.Thr655Pro) | gnomAD v4 |
17 | g.44254500T= | CA2261308252 | SLC4A1 | c.2053A= (p.Thr685=) c.955A= (p.Thr319=) c.1858A= (p.Thr620=) c.1963A= (p.Thr655=) | |
17 | g.44254501G>A | CA500285291 | SLC4A1 | c.2052C>T (p.Ile684=) c.954C>T (p.Ile318=) c.1857C>T (p.Ile619=) c.1962C>T (p.Ile654=) | gnomAD v4 |
17 | g.44254501G>C | CA399782543 | SLC4A1 | c.2052C>G (p.Ile684Met) c.954C>G (p.Ile318Met) c.1857C>G (p.Ile619Met) c.1962C>G (p.Ile654Met) | |
17 | g.44254501G= | CA2261308253 | SLC4A1 | c.2052C= (p.Ile684=) c.954C= (p.Ile318=) c.1857C= (p.Ile619=) c.1962C= (p.Ile654=) | |
17 | g.44254501G>T | CA500285290 | SLC4A1 | c.2052C>A (p.Ile684=) c.954C>A (p.Ile318=) c.1857C>A (p.Ile619=) c.1962C>A (p.Ile654=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254502A>C | CA399782545 | SLC4A1 | c.2051T>G (p.Ile684Ser) c.953T>G (p.Ile318Ser) c.1856T>G (p.Ile619Ser) c.1961T>G (p.Ile654Ser) | |
17 | g.44254502A>G | CA399782547 | SLC4A1 | c.2051T>C (p.Ile684Thr) c.953T>C (p.Ile318Thr) c.1856T>C (p.Ile619Thr) c.1961T>C (p.Ile654Thr) | |
17 | g.44254502A>T | CA399782549 | SLC4A1 | c.2051T>A (p.Ile684Asn) c.953T>A (p.Ile318Asn) c.1856T>A (p.Ile619Asn) c.1961T>A (p.Ile654Asn) | gnomAD v4 |
17 | g.44254503T>A | CA399782551 | SLC4A1 | c.2050A>T (p.Ile684Phe) c.952A>T (p.Ile318Phe) c.1855A>T (p.Ile619Phe) c.1960A>T (p.Ile654Phe) | |
17 | g.44254503T>C | CA399782553 | SLC4A1 | c.2050A>G (p.Ile684Val) c.952A>G (p.Ile318Val) c.1855A>G (p.Ile619Val) c.1960A>G (p.Ile654Val) | |
17 | g.44254503T>G | CA399782555 | SLC4A1 | c.2050A>C (p.Ile684Leu) c.952A>C (p.Ile318Leu) c.1855A>C (p.Ile619Leu) c.1960A>C (p.Ile654Leu) | |
17 | g.44254504C>A | CA399782557 | SLC4A1 | c.2049G>T (p.Gln683His) c.951G>T (p.Gln317His) c.1854G>T (p.Gln618His) c.1959G>T (p.Gln653His) | gnomAD v4 |
17 | g.44254504C>G | CA399782559 | SLC4A1 | c.2049G>C (p.Gln683His) c.951G>C (p.Gln317His) c.1854G>C (p.Gln618His) c.1959G>C (p.Gln653His) | |
17 | g.44254504C>T | CA500285298 | SLC4A1 | c.2049G>A (p.Gln683=) c.951G>A (p.Gln317=) c.1854G>A (p.Gln618=) c.1959G>A (p.Gln653=) | |
17 | g.44254505T>A | CA399782561 | SLC4A1 | c.2048A>T (p.Gln683Leu) c.950A>T (p.Gln317Leu) c.1853A>T (p.Gln618Leu) c.1958A>T (p.Gln653Leu) | gnomAD v4 |
17 | g.44254505T>C | CA399782563 | SLC4A1 | c.2048A>G (p.Gln683Arg) c.950A>G (p.Gln317Arg) c.1853A>G (p.Gln618Arg) c.1958A>G (p.Gln653Arg) | |
17 | g.44254505T>G | CA399782565 | SLC4A1 | c.2048A>C (p.Gln683Pro) c.950A>C (p.Gln317Pro) c.1853A>C (p.Gln618Pro) c.1958A>C (p.Gln653Pro) | |
17 | g.44254506G>A | CA399782570 | SLC4A1 | c.2047C>T (p.Gln683Ter) c.949C>T (p.Gln317Ter) c.1852C>T (p.Gln618Ter) c.1957C>T (p.Gln653Ter) | |
17 | g.44254506G>C | CA399782571 | SLC4A1 | c.2047C>G (p.Gln683Glu) c.949C>G (p.Gln317Glu) c.1852C>G (p.Gln618Glu) c.1957C>G (p.Gln653Glu) | |
17 | g.44254506G>T | CA399782568 | SLC4A1 | c.2047C>A (p.Gln683Lys) c.949C>A (p.Gln317Lys) c.1852C>A (p.Gln618Lys) c.1957C>A (p.Gln653Lys) | gnomAD v4 |
17 | g.44254507A>C | CA500285305 | SLC4A1 | c.2046T>G (p.Ser682=) c.948T>G (p.Ser316=) c.1851T>G (p.Ser617=) c.1956T>G (p.Ser652=) | |
17 | g.44254507A>G | CA500285307 | SLC4A1 | c.2046T>C (p.Ser682=) c.948T>C (p.Ser316=) c.1851T>C (p.Ser617=) c.1956T>C (p.Ser652=) | |
17 | g.44254507A>T | CA500285304 | SLC4A1 | c.2046T>A (p.Ser682=) c.948T>A (p.Ser316=) c.1851T>A (p.Ser617=) c.1956T>A (p.Ser652=) | gnomAD v4 |
17 | g.44254508G>A | CA399782572 | SLC4A1 | c.2045C>T (p.Ser682Phe) c.947C>T (p.Ser316Phe) c.1850C>T (p.Ser617Phe) c.1955C>T (p.Ser652Phe) | dbSNP gnomAD v4 |
17 | g.44254508G>C | CA399782574 | SLC4A1 | c.2045C>G (p.Ser682Cys) c.947C>G (p.Ser316Cys) c.1850C>G (p.Ser617Cys) c.1955C>G (p.Ser652Cys) | |
17 | g.44254508G= | CA2261308254 | SLC4A1 | c.2045C= (p.Ser682=) c.947C= (p.Ser316=) c.1850C= (p.Ser617=) c.1955C= (p.Ser652=) | |
17 | g.44254508G>T | CA399782577 | SLC4A1 | c.2045C>A (p.Ser682Tyr) c.947C>A (p.Ser316Tyr) c.1850C>A (p.Ser617Tyr) c.1955C>A (p.Ser652Tyr) | gnomAD v4 |
17 | g.44254509A>C | CA399782581 | SLC4A1 | c.2044T>G (p.Ser682Ala) c.946T>G (p.Ser316Ala) c.1849T>G (p.Ser617Ala) c.1954T>G (p.Ser652Ala) | |
17 | g.44254509A>G | CA399782582 | SLC4A1 | c.2044T>C (p.Ser682Pro) c.946T>C (p.Ser316Pro) c.1849T>C (p.Ser617Pro) c.1954T>C (p.Ser652Pro) | gnomAD v4 |
17 | g.44254509A>T | CA399782584 | SLC4A1 | c.2044T>A (p.Ser682Thr) c.946T>A (p.Ser316Thr) c.1849T>A (p.Ser617Thr) c.1954T>A (p.Ser652Thr) | gnomAD v4 |
17 | g.44254510C>A | CA399782588 | SLC4A1 | c.2043G>T (p.Glu681Asp) c.945G>T (p.Glu315Asp) c.1848G>T (p.Glu616Asp) c.1953G>T (p.Glu651Asp) | gnomAD v4 |
17 | g.44254510C>G | CA399782587 | SLC4A1 | c.2043G>C (p.Glu681Asp) c.945G>C (p.Glu315Asp) c.1848G>C (p.Glu616Asp) c.1953G>C (p.Glu651Asp) | |
17 | g.44254510C>T | CA500285312 | SLC4A1 | c.2043G>A (p.Glu681=) c.945G>A (p.Glu315=) c.1848G>A (p.Glu616=) c.1953G>A (p.Glu651=) | gnomAD v4 |
17 | g.44254511T>A | CA399782589 | SLC4A1 | c.2042A>T (p.Glu681Val) c.944A>T (p.Glu315Val) c.1847A>T (p.Glu616Val) c.1952A>T (p.Glu651Val) | gnomAD v4 |
17 | g.44254511T>C | CA399782591 | SLC4A1 | c.2042A>G (p.Glu681Gly) c.944A>G (p.Glu315Gly) c.1847A>G (p.Glu616Gly) c.1952A>G (p.Glu651Gly) | |
17 | g.44254511T>G | CA399782593 | SLC4A1 | c.2042A>C (p.Glu681Ala) c.944A>C (p.Glu315Ala) c.1847A>C (p.Glu616Ala) c.1952A>C (p.Glu651Ala) | |
17 | g.44254512C>A | CA399782595 | SLC4A1 | c.2041G>T (p.Glu681Ter) c.943G>T (p.Glu315Ter) c.1846G>T (p.Glu616Ter) c.1951G>T (p.Glu651Ter) | gnomAD v4 |
17 | g.44254512C>G | CA399782597 | SLC4A1 | c.2041G>C (p.Glu681Gln) c.943G>C (p.Glu315Gln) c.1846G>C (p.Glu616Gln) c.1951G>C (p.Glu651Gln) | |
17 | g.44254512C>T | CA399782599 | SLC4A1 | c.2041G>A (p.Glu681Lys) c.943G>A (p.Glu315Lys) c.1846G>A (p.Glu616Lys) c.1951G>A (p.Glu651Lys) | gnomAD v4 |
17 | g.44254513C>A | CA500285319 | SLC4A1 | c.2040G>T (p.Leu680=) c.942G>T (p.Leu314=) c.1845G>T (p.Leu615=) c.1950G>T (p.Leu650=) | |
17 | g.44254513C>G | CA500285318 | SLC4A1 | c.2040G>C (p.Leu680=) c.942G>C (p.Leu314=) c.1845G>C (p.Leu615=) c.1950G>C (p.Leu650=) | |
17 | g.44254513C>T | CA500285317 | SLC4A1 | c.2040G>A (p.Leu680=) c.942G>A (p.Leu314=) c.1845G>A (p.Leu615=) c.1950G>A (p.Leu650=) | |
17 | g.44254514A>C | CA399782600 | SLC4A1 | c.2039T>G (p.Leu680Arg) c.941T>G (p.Leu314Arg) c.1844T>G (p.Leu615Arg) c.1949T>G (p.Leu650Arg) | |
17 | g.44254514A>G | CA399782603 | SLC4A1 | c.2039T>C (p.Leu680Pro) c.941T>C (p.Leu314Pro) c.1844T>C (p.Leu615Pro) c.1949T>C (p.Leu650Pro) | |
17 | g.44254514A>T | CA399782602 | SLC4A1 | c.2039T>A (p.Leu680Gln) c.941T>A (p.Leu314Gln) c.1844T>A (p.Leu615Gln) c.1949T>A (p.Leu650Gln) | |
17 | g.44254515G>A | CA500285324 | SLC4A1 | c.2038C>T (p.Leu680=) c.940C>T (p.Leu314=) c.1843C>T (p.Leu615=) c.1948C>T (p.Leu650=) | |
17 | g.44254515G>C | CA399782606 | SLC4A1 | c.2038C>G (p.Leu680Val) c.940C>G (p.Leu314Val) c.1843C>G (p.Leu615Val) c.1948C>G (p.Leu650Val) | |
17 | g.44254515G>T | CA399782607 | SLC4A1 | c.2038C>A (p.Leu680Met) c.940C>A (p.Leu314Met) c.1843C>A (p.Leu615Met) c.1948C>A (p.Leu650Met) | |
17 | g.44254516G>A | CA500285325 | SLC4A1 | c.2037C>T (p.Phe679=) c.939C>T (p.Phe313=) c.1842C>T (p.Phe614=) c.1947C>T (p.Phe649=) | |
17 | g.44254516G>C | CA399782609 | SLC4A1 | c.2037C>G (p.Phe679Leu) c.939C>G (p.Phe313Leu) c.1842C>G (p.Phe614Leu) c.1947C>G (p.Phe649Leu) | |
17 | g.44254516G>T | CA399782611 | SLC4A1 | c.2037C>A (p.Phe679Leu) c.939C>A (p.Phe313Leu) c.1842C>A (p.Phe614Leu) c.1947C>A (p.Phe649Leu) | |
17 | g.44254517A= | CA2261308255 | SLC4A1 | c.2036T= (p.Phe679=) c.938T= (p.Phe313=) c.1841T= (p.Phe614=) c.1946T= (p.Phe649=) | |
17 | g.44254517A>C | CA399782614 | SLC4A1 | c.2036T>G (p.Phe679Cys) c.938T>G (p.Phe313Cys) c.1841T>G (p.Phe614Cys) c.1946T>G (p.Phe649Cys) | dbSNP gnomAD v4 |
17 | g.44254517A>G | CA399782616 | SLC4A1 | c.2036T>C (p.Phe679Ser) c.938T>C (p.Phe313Ser) c.1841T>C (p.Phe614Ser) c.1946T>C (p.Phe649Ser) | |
17 | g.44254517A>T | CA399782618 | SLC4A1 | c.2036T>A (p.Phe679Tyr) c.938T>A (p.Phe313Tyr) c.1841T>A (p.Phe614Tyr) c.1946T>A (p.Phe649Tyr) | |
17 | g.44254518A= | CA2261308256 | SLC4A1 | c.2035T= (p.Phe679=) c.937T= (p.Phe313=) c.1840T= (p.Phe614=) c.1945T= (p.Phe649=) | |
17 | g.44254518A>C | CA399782620 | SLC4A1 | c.2035T>G (p.Phe679Val) c.937T>G (p.Phe313Val) c.1840T>G (p.Phe614Val) c.1945T>G (p.Phe649Val) | |
17 | g.44254518A>G | CA8600145 | SLC4A1 | c.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 |
17 | g.44254518A>T | CA399782624 | SLC4A1 | c.2035T>A (p.Phe679Ile) c.937T>A (p.Phe313Ile) c.1840T>A (p.Phe614Ile) c.1945T>A (p.Phe649Ile) | |
17 | g.44254519T>A | CA500285330 | SLC4A1 | c.2034A>T (p.Ile678=) c.936A>T (p.Ile312=) c.1839A>T (p.Ile613=) c.1944A>T (p.Ile648=) | |
17 | g.44254519T>C | CA399782625 | SLC4A1 | c.2034A>G (p.Ile678Met) c.936A>G (p.Ile312Met) c.1839A>G (p.Ile613Met) c.1944A>G (p.Ile648Met) | |
17 | g.44254519T>G | CA500285333 | SLC4A1 | c.2034A>C (p.Ile678=) c.936A>C (p.Ile312=) c.1839A>C (p.Ile613=) c.1944A>C (p.Ile648=) | |
17 | g.44254520A= | CA2261308257 | SLC4A1 | c.2033T= (p.Ile678=) c.935T= (p.Ile312=) c.1838T= (p.Ile613=) c.1943T= (p.Ile648=) | |
17 | g.44254520A>C | CA399782629 | SLC4A1 | c.2033T>G (p.Ile678Arg) c.935T>G (p.Ile312Arg) c.1838T>G (p.Ile613Arg) c.1943T>G (p.Ile648Arg) | |
17 | g.44254520A>G | CA399782628 | SLC4A1 | c.2033T>C (p.Ile678Thr) c.935T>C (p.Ile312Thr) c.1838T>C (p.Ile613Thr) c.1943T>C (p.Ile648Thr) | dbSNP gnomAD v4 |
17 | g.44254520A>T | CA399782627 | SLC4A1 | c.2033T>A (p.Ile678Lys) c.935T>A (p.Ile312Lys) c.1838T>A (p.Ile613Lys) c.1943T>A (p.Ile648Lys) | |
17 | g.44254521T>A | CA399782630 | SLC4A1 | c.2032A>T (p.Ile678Leu) c.934A>T (p.Ile312Leu) c.1837A>T (p.Ile613Leu) c.1942A>T (p.Ile648Leu) | |
17 | g.44254521T>C | CA399782631 | SLC4A1 | c.2032A>G (p.Ile678Val) c.934A>G (p.Ile312Val) c.1837A>G (p.Ile613Val) c.1942A>G (p.Ile648Val) | gnomAD v4 |
17 | g.44254521T>G | CA399782633 | SLC4A1 | c.2032A>C (p.Ile678Leu) c.934A>C (p.Ile312Leu) c.1837A>C (p.Ile613Leu) c.1942A>C (p.Ile648Leu) | gnomAD v4 |
17 | g.44254522G>A | CA500285338 | SLC4A1 | c.2031C>T (p.Leu677=) c.933C>T (p.Leu311=) c.1836C>T (p.Leu612=) c.1941C>T (p.Leu647=) | COSMIC |
17 | g.44254522G>C | CA500285339 | SLC4A1 | c.2031C>G (p.Leu677=) c.933C>G (p.Leu311=) c.1836C>G (p.Leu612=) c.1941C>G (p.Leu647=) | |
17 | g.44254522G>T | CA500285340 | SLC4A1 | c.2031C>A (p.Leu677=) c.933C>A (p.Leu311=) c.1836C>A (p.Leu612=) c.1941C>A (p.Leu647=) | |
17 | g.44254523A>C | CA399782634 | SLC4A1 | c.2030T>G (p.Leu677Arg) c.932T>G (p.Leu311Arg) c.1835T>G (p.Leu612Arg) c.1940T>G (p.Leu647Arg) | |
17 | g.44254523A>G | CA399782635 | SLC4A1 | c.2030T>C (p.Leu677Pro) c.932T>C (p.Leu311Pro) c.1835T>C (p.Leu612Pro) c.1940T>C (p.Leu647Pro) | |
17 | g.44254523A>T | CA399782636 | SLC4A1 | c.2030T>A (p.Leu677His) c.932T>A (p.Leu311His) c.1835T>A (p.Leu612His) c.1940T>A (p.Leu647His) | |
17 | g.44254524G>A | CA8600146 | SLC4A1 | c.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 |
17 | g.44254524G>C | CA399782637 | SLC4A1 | c.2029C>G (p.Leu677Val) c.931C>G (p.Leu311Val) c.1834C>G (p.Leu612Val) c.1939C>G (p.Leu647Val) | |
17 | g.44254524G= | CA2261308258 | SLC4A1 | c.2029C= (p.Leu677=) c.931C= (p.Leu311=) c.1834C= (p.Leu612=) c.1939C= (p.Leu647=) | |
17 | g.44254524G>T | CA399782638 | SLC4A1 | c.2029C>A (p.Leu677Ile) c.931C>A (p.Leu311Ile) c.1834C>A (p.Leu612Ile) c.1939C>A (p.Leu647Ile) | |
17 | g.44254525G>A | CA500285343 | SLC4A1 | c.2028C>T (p.Ile676=) c.930C>T (p.Ile310=) c.1833C>T (p.Ile611=) c.1938C>T (p.Ile646=) | |
17 | g.44254525G>C | CA399782640 | SLC4A1 | c.2028C>G (p.Ile676Met) c.930C>G (p.Ile310Met) c.1833C>G (p.Ile611Met) c.1938C>G (p.Ile646Met) | |
17 | g.44254525G>T | CA500285348 | SLC4A1 | c.2028C>A (p.Ile676=) c.930C>A (p.Ile310=) c.1833C>A (p.Ile611=) c.1938C>A (p.Ile646=) | |
17 | g.44254526A>C | CA399782641 | SLC4A1 | c.2027T>G (p.Ile676Ser) c.929T>G (p.Ile310Ser) c.1832T>G (p.Ile611Ser) c.1937T>G (p.Ile646Ser) | |
17 | g.44254526A>G | CA399782642 | SLC4A1 | c.2027T>C (p.Ile676Thr) c.929T>C (p.Ile310Thr) c.1832T>C (p.Ile611Thr) c.1937T>C (p.Ile646Thr) | |
17 | g.44254526A>T | CA399782643 | SLC4A1 | c.2027T>A (p.Ile676Asn) c.929T>A (p.Ile310Asn) c.1832T>A (p.Ile611Asn) c.1937T>A (p.Ile646Asn) | |
17 | g.44254527T>A | CA399782646 | SLC4A1 | c.2026A>T (p.Ile676Phe) c.928A>T (p.Ile310Phe) c.1831A>T (p.Ile611Phe) c.1936A>T (p.Ile646Phe) | |
17 | g.44254527T>C | CA399782645 | SLC4A1 | c.2026A>G (p.Ile676Val) c.928A>G (p.Ile310Val) c.1831A>G (p.Ile611Val) c.1936A>G (p.Ile646Val) | |
17 | g.44254527T>G | CA399782644 | SLC4A1 | c.2026A>C (p.Ile676Leu) c.928A>C (p.Ile310Leu) c.1831A>C (p.Ile611Leu) c.1936A>C (p.Ile646Leu) | |
17 | g.44254527dup | CA2697559954 | SLC4A1 | c.2026dup (p.Ile676AsnfsTer18) c.928dup (p.Ile310AsnfsTer18) c.1831dup (p.Ile611AsnfsTer18) c.1936dup (p.Ile646AsnfsTer18) c.2026dup (p.Ile676AsnfsTer?) | ClinVar |
17 | g.44254528G>A | CA500285355 | SLC4A1 | c.2025C>T (p.Phe675=) c.927C>T (p.Phe309=) c.1830C>T (p.Phe610=) c.1935C>T (p.Phe645=) | |
17 | g.44254528G>C | CA399782647 | SLC4A1 | c.2025C>G (p.Phe675Leu) c.927C>G (p.Phe309Leu) c.1830C>G (p.Phe610Leu) c.1935C>G (p.Phe645Leu) | |
17 | g.44254528G>T | CA399782648 | SLC4A1 | c.2025C>A (p.Phe675Leu) c.927C>A (p.Phe309Leu) c.1830C>A (p.Phe610Leu) c.1935C>A (p.Phe645Leu) | |
17 | g.44254529A>C | CA399782650 | SLC4A1 | c.2024T>G (p.Phe675Cys) c.926T>G (p.Phe309Cys) c.1829T>G (p.Phe610Cys) c.1934T>G (p.Phe645Cys) | |
17 | g.44254529A>G | CA399782652 | SLC4A1 | c.2024T>C (p.Phe675Ser) c.926T>C (p.Phe309Ser) c.1829T>C (p.Phe610Ser) c.1934T>C (p.Phe645Ser) | |
17 | g.44254529A>T | CA399782653 | SLC4A1 | c.2024T>A (p.Phe675Tyr) c.926T>A (p.Phe309Tyr) c.1829T>A (p.Phe610Tyr) c.1934T>A (p.Phe645Tyr) | |
17 | g.44254530A>C | CA399782654 | SLC4A1 | c.2023T>G (p.Phe675Val) c.925T>G (p.Phe309Val) c.1828T>G (p.Phe610Val) c.1933T>G (p.Phe645Val) | |
17 | g.44254530A>G | CA399782655 | SLC4A1 | c.2023T>C (p.Phe675Leu) c.925T>C (p.Phe309Leu) c.1828T>C (p.Phe610Leu) c.1933T>C (p.Phe645Leu) | |
17 | g.44254530A>T | CA399782656 | SLC4A1 | c.2023T>A (p.Phe675Ile) c.925T>A (p.Phe309Ile) c.1828T>A (p.Phe610Ile) c.1933T>A (p.Phe645Ile) | |
17 | g.44254531G>A | CA500285357 | SLC4A1 | c.2022C>T (p.Val674=) c.924C>T (p.Val308=) c.1827C>T (p.Val609=) c.1932C>T (p.Val644=) | |
17 | g.44254531G>C | CA500285359 | SLC4A1 | c.2022C>G (p.Val674=) c.924C>G (p.Val308=) c.1827C>G (p.Val609=) c.1932C>G (p.Val644=) | |
17 | g.44254531G>T | CA500285358 | SLC4A1 | c.2022C>A (p.Val674=) c.924C>A (p.Val308=) c.1827C>A (p.Val609=) c.1932C>A (p.Val644=) | |
17 | g.44254532A>C | CA399782657 | SLC4A1 | c.2021T>G (p.Val674Gly) c.923T>G (p.Val308Gly) c.1826T>G (p.Val609Gly) c.1931T>G (p.Val644Gly) | |
17 | g.44254532A>G | CA399782658 | SLC4A1 | c.2021T>C (p.Val674Ala) c.923T>C (p.Val308Ala) c.1826T>C (p.Val609Ala) c.1931T>C (p.Val644Ala) | |
17 | g.44254532A>T | CA399782659 | SLC4A1 | c.2021T>A (p.Val674Asp) c.923T>A (p.Val308Asp) c.1826T>A (p.Val609Asp) c.1931T>A (p.Val644Asp) | |
17 | g.44254533C>A | CA399782660 | SLC4A1 | c.2020G>T (p.Val674Phe) c.922G>T (p.Val308Phe) c.1825G>T (p.Val609Phe) c.1930G>T (p.Val644Phe) | |
17 | g.44254533C= | CA2261308259 | SLC4A1 | c.2020G= (p.Val674=) c.922G= (p.Val308=) c.1825G= (p.Val609=) c.1930G= (p.Val644=) | |
17 | g.44254533C>G | CA399782661 | SLC4A1 | c.2020G>C (p.Val674Leu) c.922G>C (p.Val308Leu) c.1825G>C (p.Val609Leu) c.1930G>C (p.Val644Leu) | |
17 | g.44254533C>T | CA8600147 | SLC4A1 | c.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 |
17 | g.44254534C>A | CA500285363 | SLC4A1 | c.2019G>T (p.Leu673=) c.921G>T (p.Leu307=) c.1824G>T (p.Leu608=) c.1929G>T (p.Leu643=) | |
17 | g.44254534C= | CA2261308260 | SLC4A1 | c.2019G= (p.Leu673=) c.921G= (p.Leu307=) c.1824G= (p.Leu608=) c.1929G= (p.Leu643=) | |
17 | g.44254534C>G | CA500285364 | SLC4A1 | c.2019G>C (p.Leu673=) c.921G>C (p.Leu307=) c.1824G>C (p.Leu608=) c.1929G>C (p.Leu643=) | |
17 | g.44254534C>T | CA500285365 | SLC4A1 | c.2019G>A (p.Leu673=) c.921G>A (p.Leu307=) c.1824G>A (p.Leu608=) c.1929G>A (p.Leu643=) | ClinVar dbSNP gnomAD v4 |
17 | g.44254535A>C | CA399782664 | SLC4A1 | c.2018T>G (p.Leu673Arg) c.920T>G (p.Leu307Arg) c.1823T>G (p.Leu608Arg) c.1928T>G (p.Leu643Arg) | |
17 | g.44254535A>G | CA399782665 | SLC4A1 | c.2018T>C (p.Leu673Pro) c.920T>C (p.Leu307Pro) c.1823T>C (p.Leu608Pro) c.1928T>C (p.Leu643Pro) | ClinVar dbSNP |
17 | g.44254535A>T | CA399782662 | SLC4A1 | c.2018T>A (p.Leu673Gln) c.920T>A (p.Leu307Gln) c.1823T>A (p.Leu608Gln) c.1928T>A (p.Leu643Gln) | |
17 | g.44254536G>A | CA500285368 | SLC4A1 | c.2017C>T (p.Leu673=) c.919C>T (p.Leu307=) c.1822C>T (p.Leu608=) c.1927C>T (p.Leu643=) | gnomAD v4 COSMIC |
17 | g.44254536G>C | CA399782666 | SLC4A1 | c.2017C>G (p.Leu673Val) c.919C>G (p.Leu307Val) c.1822C>G (p.Leu608Val) c.1927C>G (p.Leu643Val) | |
17 | g.44254536G>T | CA399782667 | SLC4A1 | c.2017C>A (p.Leu673Met) c.919C>A (p.Leu307Met) c.1822C>A (p.Leu608Met) c.1927C>A (p.Leu643Met) | |
17 | g.44254537C>A | CA500285369 | SLC4A1 | c.2016G>T (p.Leu672=) c.918G>T (p.Leu306=) c.1821G>T (p.Leu607=) c.1926G>T (p.Leu642=) | |
17 | g.44254537C>G | CA500285372 | SLC4A1 | c.2016G>C (p.Leu672=) c.918G>C (p.Leu306=) c.1821G>C (p.Leu607=) c.1926G>C (p.Leu642=) | |
17 | g.44254537C>T | CA500285370 | SLC4A1 | c.2016G>A (p.Leu672=) c.918G>A (p.Leu306=) c.1821G>A (p.Leu607=) c.1926G>A (p.Leu642=) | gnomAD v4 |
17 | g.44254538A>C | CA399782668 | SLC4A1 | c.2015T>G (p.Leu672Arg) c.917T>G (p.Leu306Arg) c.1820T>G (p.Leu607Arg) c.1925T>G (p.Leu642Arg) | |
17 | g.44254538A>G | CA399782669 | SLC4A1 | c.2015T>C (p.Leu672Pro) c.917T>C (p.Leu306Pro) c.1820T>C (p.Leu607Pro) c.1925T>C (p.Leu642Pro) | |
17 | g.44254538A>T | CA399782670 | SLC4A1 | c.2015T>A (p.Leu672Gln) c.917T>A (p.Leu306Gln) c.1820T>A (p.Leu607Gln) c.1925T>A (p.Leu642Gln) | |
17 | g.44254539G>A | CA500285375 | SLC4A1 | c.2014C>T (p.Leu672=) c.916C>T (p.Leu306=) c.1819C>T (p.Leu607=) c.1924C>T (p.Leu642=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254539G>C | CA399782671 | SLC4A1 | c.2014C>G (p.Leu672Val) c.916C>G (p.Leu306Val) c.1819C>G (p.Leu607Val) c.1924C>G (p.Leu642Val) | |
17 | g.44254539G= | CA2261308261 | SLC4A1 | c.2014C= (p.Leu672=) c.916C= (p.Leu306=) c.1819C= (p.Leu607=) c.1924C= (p.Leu642=) | |
17 | g.44254539G>T | CA399782673 | SLC4A1 | c.2014C>A (p.Leu672Met) c.916C>A (p.Leu306Met) c.1819C>A (p.Leu607Met) c.1924C>A (p.Leu642Met) | |
17 | g.44254540A>C | CA500285376 | SLC4A1 | c.2013T>G (p.Ala671=) c.915T>G (p.Ala305=) c.1818T>G (p.Ala606=) c.1923T>G (p.Ala641=) | |
17 | g.44254540A>G | CA500285377 | SLC4A1 | c.2013T>C (p.Ala671=) c.915T>C (p.Ala305=) c.1818T>C (p.Ala606=) c.1923T>C (p.Ala641=) | |
17 | g.44254540A>T | CA500285378 | SLC4A1 | c.2013T>A (p.Ala671=) c.915T>A (p.Ala305=) c.1818T>A (p.Ala606=) c.1923T>A (p.Ala641=) | gnomAD v4 |
17 | g.44254541G>A | CA399782675 | SLC4A1 | c.2012C>T (p.Ala671Val) c.914C>T (p.Ala305Val) c.1817C>T (p.Ala606Val) c.1922C>T (p.Ala641Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44254541G>C | CA399782677 | SLC4A1 | c.2012C>G (p.Ala671Gly) c.914C>G (p.Ala305Gly) c.1817C>G (p.Ala606Gly) c.1922C>G (p.Ala641Gly) | |
17 | g.44254541G= | CA2261308262 | SLC4A1 | c.2012C= (p.Ala671=) c.914C= (p.Ala305=) c.1817C= (p.Ala606=) c.1922C= (p.Ala641=) | |
17 | g.44254541G>T | CA399782678 | SLC4A1 | c.2012C>A (p.Ala671Asp) c.914C>A (p.Ala305Asp) c.1817C>A (p.Ala606Asp) c.1922C>A (p.Ala641Asp) | |
17 | g.44254542C>A | CA399782681 | SLC4A1 | c.2011G>T (p.Ala671Ser) c.913G>T (p.Ala305Ser) c.1816G>T (p.Ala606Ser) c.1921G>T (p.Ala641Ser) | |
17 | g.44254542C>G | CA399782686 | SLC4A1 | c.2011G>C (p.Ala671Pro) c.913G>C (p.Ala305Pro) c.1816G>C (p.Ala606Pro) c.1921G>C (p.Ala641Pro) | ClinVar |
17 | g.44254542C>T | CA399782687 | SLC4A1 | c.2011G>A (p.Ala671Thr) c.913G>A (p.Ala305Thr) c.1816G>A (p.Ala606Thr) c.1921G>A (p.Ala641Thr) | gnomAD v4 |
17 | g.44254543A>C | CA500285379 | SLC4A1 | c.2010T>G (p.Pro670=) c.912T>G (p.Pro304=) c.1815T>G (p.Pro605=) c.1920T>G (p.Pro640=) | |
17 | g.44254543A>G | CA500285380 | SLC4A1 | c.2010T>C (p.Pro670=) c.912T>C (p.Pro304=) c.1815T>C (p.Pro605=) c.1920T>C (p.Pro640=) | |
17 | g.44254543A>T | CA500285381 | SLC4A1 | c.2010T>A (p.Pro670=) c.912T>A (p.Pro304=) c.1815T>A (p.Pro605=) c.1920T>A (p.Pro640=) | |
17 | g.44254544G>A | CA399782690 | SLC4A1 | c.2009C>T (p.Pro670Leu) c.911C>T (p.Pro304Leu) c.1814C>T (p.Pro605Leu) c.1919C>T (p.Pro640Leu) | gnomAD v4 |
17 | g.44254544G>C | CA399782688 | SLC4A1 | c.2009C>G (p.Pro670Arg) c.911C>G (p.Pro304Arg) c.1814C>G (p.Pro605Arg) c.1919C>G (p.Pro640Arg) | ClinVar |
17 | g.44254544G>T | CA399782689 | SLC4A1 | c.2009C>A (p.Pro670His) c.911C>A (p.Pro304His) c.1814C>A (p.Pro605His) c.1919C>A (p.Pro640His) | |
17 | g.44254545G>A | CA399782691 | SLC4A1 | c.2008C>T (p.Pro670Ser) c.910C>T (p.Pro304Ser) c.1813C>T (p.Pro605Ser) c.1918C>T (p.Pro640Ser) | |
17 | g.44254545G>C | CA290928466 | SLC4A1 | c.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 |
17 | g.44254545G= | CA2261308263 | SLC4A1 | c.2008C= (p.Pro670=) c.910C= (p.Pro304=) c.1813C= (p.Pro605=) c.1918C= (p.Pro640=) | |
17 | g.44254545G>T | CA399782692 | SLC4A1 | c.2008C>A (p.Pro670Thr) c.910C>A (p.Pro304Thr) c.1813C>A (p.Pro605Thr) c.1918C>A (p.Pro640Thr) | |
17 | g.44254546C>A | CA500285384 | SLC4A1 | c.2007G>T (p.Leu669=) c.909G>T (p.Leu303=) c.1812G>T (p.Leu604=) c.1917G>T (p.Leu639=) | |
17 | g.44254546C>G | CA500285382 | SLC4A1 | c.2007G>C (p.Leu669=) c.909G>C (p.Leu303=) c.1812G>C (p.Leu604=) c.1917G>C (p.Leu639=) | |
17 | g.44254546C>T | CA500285383 | SLC4A1 | c.2007G>A (p.Leu669=) c.909G>A (p.Leu303=) c.1812G>A (p.Leu604=) c.1917G>A (p.Leu639=) | |
17 | g.44254547A>C | CA399782693 | SLC4A1 | c.2006T>G (p.Leu669Arg) c.908T>G (p.Leu303Arg) c.1811T>G (p.Leu604Arg) c.1916T>G (p.Leu639Arg) | |
17 | g.44254547A>G | CA399782695 | SLC4A1 | c.2006T>C (p.Leu669Pro) c.908T>C (p.Leu303Pro) c.1811T>C (p.Leu604Pro) c.1916T>C (p.Leu639Pro) | gnomAD v4 |
17 | g.44254547A>T | CA399782697 | SLC4A1 | c.2006T>A (p.Leu669Gln) c.908T>A (p.Leu303Gln) c.1811T>A (p.Leu604Gln) c.1916T>A (p.Leu639Gln) | |
17 | g.44254548G>A | CA500285385 | SLC4A1 | c.2005C>T (p.Leu669=) c.907C>T (p.Leu303=) c.1810C>T (p.Leu604=) c.1915C>T (p.Leu639=) | |
17 | g.44254548G>C | CA399782699 | SLC4A1 | c.2005C>G (p.Leu669Val) c.907C>G (p.Leu303Val) c.1810C>G (p.Leu604Val) c.1915C>G (p.Leu639Val) | |
17 | g.44254548G>T | CA399782701 | SLC4A1 | c.2005C>A (p.Leu669Met) c.907C>A (p.Leu303Met) c.1810C>A (p.Leu604Met) c.1915C>A (p.Leu639Met) | |
17 | g.44254549G>A | CA500285386 | SLC4A1 | c.2004C>T (p.Ala668=) c.906C>T (p.Ala302=) c.1809C>T (p.Ala603=) c.1914C>T (p.Ala638=) | |
17 | g.44254549G>C | CA500285387 | SLC4A1 | c.2004C>G (p.Ala668=) c.906C>G (p.Ala302=) c.1809C>G (p.Ala603=) c.1914C>G (p.Ala638=) | |
17 | g.44254549G>T | CA500285388 | SLC4A1 | c.2004C>A (p.Ala668=) c.906C>A (p.Ala302=) c.1809C>A (p.Ala603=) c.1914C>A (p.Ala638=) | |
17 | g.44254550G>A | CA399782702 | SLC4A1 | c.2003C>T (p.Ala668Val) c.905C>T (p.Ala302Val) c.1808C>T (p.Ala603Val) c.1913C>T (p.Ala638Val) | dbSNP gnomAD v4 |
17 | g.44254550G>C | CA399782705 | SLC4A1 | c.2003C>G (p.Ala668Gly) c.905C>G (p.Ala302Gly) c.1808C>G (p.Ala603Gly) c.1913C>G (p.Ala638Gly) | gnomAD v4 |
17 | g.44254550G= | CA2261308264 | SLC4A1 | c.2003C= (p.Ala668=) c.905C= (p.Ala302=) c.1808C= (p.Ala603=) c.1913C= (p.Ala638=) | |
17 | g.44254550G>T | CA399782708 | SLC4A1 | c.2003C>A (p.Ala668Asp) c.905C>A (p.Ala302Asp) c.1808C>A (p.Ala603Asp) c.1913C>A (p.Ala638Asp) | |
17 | g.44254551C>A | CA399782712 | SLC4A1 | c.2002G>T (p.Ala668Ser) c.904G>T (p.Ala302Ser) c.1807G>T (p.Ala603Ser) c.1912G>T (p.Ala638Ser) | ClinVar gnomAD v4 |
17 | g.44254551C= | CA2261308265 | SLC4A1 | c.2002G= (p.Ala668=) c.904G= (p.Ala302=) c.1807G= (p.Ala603=) c.1912G= (p.Ala638=) | |
17 | g.44254551C>G | CA399782727 | SLC4A1 | c.2002G>C (p.Ala668Pro) c.904G>C (p.Ala302Pro) c.1807G>C (p.Ala603Pro) c.1912G>C (p.Ala638Pro) | |
17 | g.44254551C>T | CA8600148 | SLC4A1 | c.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 |
17 | g.44254552G>A | CA8600149 | SLC4A1 | c.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 |
17 | g.44254552G>C | CA500285389 | SLC4A1 | c.2001C>G (p.Ser667=) c.903C>G (p.Ser301=) c.1806C>G (p.Ser602=) c.1911C>G (p.Ser637=) | |
17 | g.44254552G= | CA2261308266 | SLC4A1 | c.2001C= (p.Ser667=) c.903C= (p.Ser301=) c.1806C= (p.Ser602=) c.1911C= (p.Ser637=) | |
17 | g.44254552G>T | CA500285390 | SLC4A1 | c.2001C>A (p.Ser667=) c.903C>A (p.Ser301=) c.1806C>A (p.Ser602=) c.1911C>A (p.Ser637=) | gnomAD v4 |
17 | g.44254553G>A | CA399782731 | SLC4A1 | c.2000C>T (p.Ser667Phe) c.902C>T (p.Ser301Phe) c.1805C>T (p.Ser602Phe) c.1910C>T (p.Ser637Phe) | gnomAD v4 |
17 | g.44254553G>C | CA399782730 | SLC4A1 | c.2000C>G (p.Ser667Cys) c.902C>G (p.Ser301Cys) c.1805C>G (p.Ser602Cys) c.1910C>G (p.Ser637Cys) | |
17 | g.44254553G>T | CA399782732 | SLC4A1 | c.2000C>A (p.Ser667Tyr) c.902C>A (p.Ser301Tyr) c.1805C>A (p.Ser602Tyr) c.1910C>A (p.Ser637Tyr) | ClinVar |
17 | g.44254554A= | CA2261308267 | SLC4A1 | c.1999T= (p.Ser667=) c.901T= (p.Ser301=) c.1804T= (p.Ser602=) c.1909T= (p.Ser637=) | |
17 | g.44254554A>C | CA399782733 | SLC4A1 | c.1999T>G (p.Ser667Ala) c.901T>G (p.Ser301Ala) c.1804T>G (p.Ser602Ala) c.1909T>G (p.Ser637Ala) | |
17 | g.44254554A>G | CA399782734 | SLC4A1 | c.1999T>C (p.Ser667Pro) c.901T>C (p.Ser301Pro) c.1804T>C (p.Ser602Pro) c.1909T>C (p.Ser637Pro) | gnomAD v4 |
17 | g.44254554A>T | CA8600150 | SLC4A1 | c.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 |
17 | g.44254555G>A | CA500285394 | SLC4A1 | c.1998C>T (p.Ala666=) c.900C>T (p.Ala300=) c.1803C>T (p.Ala601=) c.1908C>T (p.Ala636=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44254555G>C | CA500285395 | SLC4A1 | c.1998C>G (p.Ala666=) c.900C>G (p.Ala300=) c.1803C>G (p.Ala601=) c.1908C>G (p.Ala636=) | |
17 | g.44254555G= | CA2261308268 | SLC4A1 | c.1998C= (p.Ala666=) c.900C= (p.Ala300=) c.1803C= (p.Ala601=) c.1908C= (p.Ala636=) | |
17 | g.44254555G>T | CA500285397 | SLC4A1 | c.1998C>A (p.Ala666=) c.900C>A (p.Ala300=) c.1803C>A (p.Ala601=) c.1908C>A (p.Ala636=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254556G>A | CA399782735 | SLC4A1 | c.1997C>T (p.Ala666Val) c.899C>T (p.Ala300Val) c.1802C>T (p.Ala601Val) c.1907C>T (p.Ala636Val) | |
17 | g.44254556G>C | CA399782736 | SLC4A1 | c.1997C>G (p.Ala666Gly) c.899C>G (p.Ala300Gly) c.1802C>G (p.Ala601Gly) c.1907C>G (p.Ala636Gly) | |
17 | g.44254556G>T | CA399782738 | SLC4A1 | c.1997C>A (p.Ala666Asp) c.899C>A (p.Ala300Asp) c.1802C>A (p.Ala601Asp) c.1907C>A (p.Ala636Asp) | |
17 | g.44254557C>A | CA399782743 | SLC4A1 | c.1996G>T (p.Ala666Ser) c.898G>T (p.Ala300Ser) c.1801G>T (p.Ala601Ser) c.1906G>T (p.Ala636Ser) | |
17 | g.44254557C>G | CA399782741 | SLC4A1 | c.1996G>C (p.Ala666Pro) c.898G>C (p.Ala300Pro) c.1801G>C (p.Ala601Pro) c.1906G>C (p.Ala636Pro) | |
17 | g.44254557C>T | CA399782742 | SLC4A1 | c.1996G>A (p.Ala666Thr) c.898G>A (p.Ala300Thr) c.1801G>A (p.Ala601Thr) c.1906G>A (p.Ala636Thr) | |
17 | g.44254558A>C | CA399782744 | SLC4A1 | c.1995T>G (p.Phe665Leu) c.897T>G (p.Phe299Leu) c.1800T>G (p.Phe600Leu) c.1905T>G (p.Phe635Leu) | |
17 | g.44254558A>G | CA500285500 | SLC4A1 | c.1995T>C (p.Phe665=) c.897T>C (p.Phe299=) c.1800T>C (p.Phe600=) c.1905T>C (p.Phe635=) | |
17 | g.44254558A>T | CA399782745 | SLC4A1 | c.1995T>A (p.Phe665Leu) c.897T>A (p.Phe299Leu) c.1800T>A (p.Phe600Leu) c.1905T>A (p.Phe635Leu) | |
17 | g.44254558_44254561delinsAAAC | CA2261308269 | SLC4A1 | c.1992_1995delinsGTTT (p.Met664=) c.894_897delinsGTTT (p.Met298=) c.1797_1800delinsGTTT (p.Met599=) c.1902_1905delinsGTTT (p.Met634=) | |
17 | g.44254559A>C | CA399782746 | SLC4A1 | c.1994T>G (p.Phe665Cys) c.896T>G (p.Phe299Cys) c.1799T>G (p.Phe600Cys) c.1904T>G (p.Phe635Cys) | |
17 | g.44254559A>G | CA399782747 | SLC4A1 | c.1994T>C (p.Phe665Ser) c.896T>C (p.Phe299Ser) c.1799T>C (p.Phe600Ser) c.1904T>C (p.Phe635Ser) | |
17 | g.44254559A>T | CA399782748 | SLC4A1 | c.1994T>A (p.Phe665Tyr) c.896T>A (p.Phe299Tyr) c.1799T>A (p.Phe600Tyr) c.1904T>A (p.Phe635Tyr) | |
17 | g.44254560_44254562del | CA2261308270 | SLC4A1 | c.1992_1994del (p.Met664_Phe665delinsIle) c.894_896del (p.Met298_Phe299delinsIle) c.1797_1799del (p.Met599_Phe600delinsIle) c.1902_1904del (p.Met634_Phe635delinsIle) | dbSNP |
17 | g.44254560A= | CA2261308271 | SLC4A1 | c.1993T= (p.Phe665=) c.895T= (p.Phe299=) c.1798T= (p.Phe600=) c.1903T= (p.Phe635=) | |
17 | g.44254560A>C | CA399782752 | SLC4A1 | c.1993T>G (p.Phe665Val) c.895T>G (p.Phe299Val) c.1798T>G (p.Phe600Val) c.1903T>G (p.Phe635Val) | |
17 | g.44254560A>G | CA399782749 | SLC4A1 | c.1993T>C (p.Phe665Leu) c.895T>C (p.Phe299Leu) c.1798T>C (p.Phe600Leu) c.1903T>C (p.Phe635Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254560A>T | CA399782751 | SLC4A1 | c.1993T>A (p.Phe665Ile) c.895T>A (p.Phe299Ile) c.1798T>A (p.Phe600Ile) c.1903T>A (p.Phe635Ile) | |
17 | g.44254561C>A | CA399782755 | SLC4A1 | c.1992G>T (p.Met664Ile) c.894G>T (p.Met298Ile) c.1797G>T (p.Met599Ile) c.1902G>T (p.Met634Ile) | |
17 | g.44254561C>G | CA399782759 | SLC4A1 | c.1992G>C (p.Met664Ile) c.894G>C (p.Met298Ile) c.1797G>C (p.Met599Ile) c.1902G>C (p.Met634Ile) | |
17 | g.44254561C>T | CA399782761 | SLC4A1 | c.1992G>A (p.Met664Ile) c.894G>A (p.Met298Ile) c.1797G>A (p.Met599Ile) c.1902G>A (p.Met634Ile) | |
17 | g.44254565_44254567del | CA2580613150 | SLC4A1 | c.1990_1992del (p.Met664del) c.892_894del (p.Met298del) c.1795_1797del (p.Met599del) c.1900_1902del (p.Met634del) | ClinVar gnomAD v4 |
17 | g.44254562A>C | CA399782764 | SLC4A1 | c.1991T>G (p.Met664Arg) c.893T>G (p.Met298Arg) c.1796T>G (p.Met599Arg) c.1901T>G (p.Met634Arg) | |
17 | g.44254562A>G | CA399782765 | SLC4A1 | c.1991T>C (p.Met664Thr) c.893T>C (p.Met298Thr) c.1796T>C (p.Met599Thr) c.1901T>C (p.Met634Thr) | |
17 | g.44254562A>T | CA399782766 | SLC4A1 | c.1991T>A (p.Met664Lys) c.893T>A (p.Met298Lys) c.1796T>A (p.Met599Lys) c.1901T>A (p.Met634Lys) | |
17 | g.44254563T>A | CA399782767 | SLC4A1 | c.1990A>T (p.Met664Leu) c.892A>T (p.Met298Leu) c.1795A>T (p.Met599Leu) c.1900A>T (p.Met634Leu) | |
17 | g.44254563T>C | CA399782771 | SLC4A1 | c.1990A>G (p.Met664Val) c.892A>G (p.Met298Val) c.1795A>G (p.Met599Val) c.1900A>G (p.Met634Val) | |
17 | g.44254563T>G | CA399782773 | SLC4A1 | c.1990A>C (p.Met664Leu) c.892A>C (p.Met298Leu) c.1795A>C (p.Met599Leu) c.1900A>C (p.Met634Leu) | |
17 | g.44254564del | CA2695226322 | SLC4A1 | c.1989del (p.Met663IlefsTer25) c.891del (p.Met297IlefsTer25) c.1794del (p.Met598IlefsTer25) c.1899del (p.Met633IlefsTer25) c.1989del (p.Met663IlefsTer?) | |
17 | g.44254564C>A | CA399782782 | SLC4A1 | c.1989G>T (p.Met663Ile) c.891G>T (p.Met297Ile) c.1794G>T (p.Met598Ile) c.1899G>T (p.Met633Ile) | |
17 | g.44254564C>G | CA399782783 | SLC4A1 | c.1989G>C (p.Met663Ile) c.891G>C (p.Met297Ile) c.1794G>C (p.Met598Ile) c.1899G>C (p.Met633Ile) | |
17 | g.44254564C>T | CA399782784 | SLC4A1 | c.1989G>A (p.Met663Ile) c.891G>A (p.Met297Ile) c.1794G>A (p.Met598Ile) c.1899G>A (p.Met633Ile) | |
17 | g.44254565A>C | CA399782785 | SLC4A1 | c.1988T>G (p.Met663Arg) c.890T>G (p.Met297Arg) c.1793T>G (p.Met598Arg) c.1898T>G (p.Met633Arg) | |
17 | g.44254565A>G | CA399782787 | SLC4A1 | c.1988T>C (p.Met663Thr) c.890T>C (p.Met297Thr) c.1793T>C (p.Met598Thr) c.1898T>C (p.Met633Thr) | |
17 | g.44254565A>T | CA399782786 | SLC4A1 | c.1988T>A (p.Met663Lys) c.890T>A (p.Met297Lys) c.1793T>A (p.Met598Lys) c.1898T>A (p.Met633Lys) |