Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44260501C>A | CA399795178 | SLC4A1 | c.388G>T (p.Gly130Ter) n.322G>T n.527G>T c.193G>T (p.Gly65Ter) | |
17 | g.44260501C= | CA2261310928 | SLC4A1 | c.388G= (p.Gly130=) n.322G= n.527G= c.193G= (p.Gly65=) | |
17 | g.44260501C>G | CA399795182 | SLC4A1 | c.388G>C (p.Gly130Arg) n.322G>C n.527G>C c.193G>C (p.Gly65Arg) | |
17 | g.44260501C>T | CA127394 | SLC4A1 | c.388G>A (p.Gly130Arg) n.322G>A n.527G>A c.193G>A (p.Gly65Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44260502A>C | CA500288617 | SLC4A1 | c.387T>G (p.Ala129=) n.321T>G n.526T>G c.192T>G (p.Ala64=) | |
17 | g.44260502A>G | CA500288618 | SLC4A1 | c.387T>C (p.Ala129=) n.321T>C n.526T>C c.192T>C (p.Ala64=) | |
17 | g.44260502A>T | CA500288619 | SLC4A1 | c.387T>A (p.Ala129=) n.321T>A n.526T>A c.192T>A (p.Ala64=) | |
17 | g.44260503G>A | CA399795194 | SLC4A1 | c.386C>T (p.Ala129Val) n.320C>T n.525C>T c.191C>T (p.Ala64Val) | |
17 | g.44260503G>C | CA399795198 | SLC4A1 | c.386C>G (p.Ala129Gly) n.320C>G n.525C>G c.191C>G (p.Ala64Gly) | |
17 | g.44260503G>T | CA399795201 | SLC4A1 | c.386C>A (p.Ala129Asp) n.320C>A n.525C>A c.191C>A (p.Ala64Asp) | |
17 | g.44260504C>A | CA399795206 | SLC4A1 | c.385G>T (p.Ala129Ser) n.319G>T n.524G>T c.190G>T (p.Ala64Ser) | |
17 | g.44260504C>G | CA399795212 | SLC4A1 | c.385G>C (p.Ala129Pro) n.319G>C n.524G>C c.190G>C (p.Ala64Pro) | |
17 | g.44260504C>T | CA399795213 | SLC4A1 | c.385G>A (p.Ala129Thr) n.319G>A n.524G>A c.190G>A (p.Ala64Thr) | |
17 | g.44260505C>A | CA500288620 | SLC4A1 | c.384G>T (p.Leu128=) n.318G>T n.523G>T c.189G>T (p.Leu63=) | COSMIC |
17 | g.44260505C= | CA2261310929 | SLC4A1 | c.384G= (p.Leu128=) n.318G= n.523G= c.189G= (p.Leu63=) | |
17 | g.44260505C>G | CA500288622 | SLC4A1 | c.384G>C (p.Leu128=) n.318G>C n.523G>C c.189G>C (p.Leu63=) | |
17 | g.44260505C>T | CA500288621 | SLC4A1 | c.384G>A (p.Leu128=) n.318G>A n.523G>A c.189G>A (p.Leu63=) | dbSNP |
17 | g.44260506A>C | CA399795220 | SLC4A1 | c.383T>G (p.Leu128Arg) n.317T>G n.522T>G c.188T>G (p.Leu63Arg) | gnomAD v4 |
17 | g.44260506A>G | CA399795235 | SLC4A1 | c.383T>C (p.Leu128Pro) n.317T>C n.522T>C c.188T>C (p.Leu63Pro) | gnomAD v4 |
17 | g.44260506A>T | CA399795217 | SLC4A1 | c.383T>A (p.Leu128Gln) n.317T>A n.522T>A c.188T>A (p.Leu63Gln) | |
17 | g.44260507G>A | CA500288623 | SLC4A1 | c.382C>T (p.Leu128=) n.316C>T n.521C>T c.187C>T (p.Leu63=) | |
17 | g.44260507G>C | CA399795241 | SLC4A1 | c.382C>G (p.Leu128Val) n.316C>G n.521C>G c.187C>G (p.Leu63Val) | |
17 | g.44260507G>T | CA399795249 | SLC4A1 | c.382C>A (p.Leu128Met) n.316C>A n.521C>A c.187C>A (p.Leu63Met) | |
17 | g.44260508G>A | CA8600615 | SLC4A1 | c.381C>T (p.Ser127=) n.315C>T n.520C>T c.186C>T (p.Ser62=) | dbSNP ExAC gnomAD v2 |
17 | g.44260508G>C | CA500288624 | SLC4A1 | c.381C>G (p.Ser127=) n.315C>G n.520C>G c.186C>G (p.Ser62=) | |
17 | g.44260508G= | CA2261310930 | SLC4A1 | c.381C= (p.Ser127=) n.315C= n.520C= c.186C= (p.Ser62=) | |
17 | g.44260508G>T | CA500288625 | SLC4A1 | c.381C>A (p.Ser127=) n.315C>A n.520C>A c.186C>A (p.Ser62=) | |
17 | g.44260509G>A | CA399795256 | SLC4A1 | c.380C>T (p.Ser127Phe) n.314C>T n.519C>T c.185C>T (p.Ser62Phe) | |
17 | g.44260509G>C | CA399795266 | SLC4A1 | c.380C>G (p.Ser127Cys) n.314C>G n.519C>G c.185C>G (p.Ser62Cys) | gnomAD v4 |
17 | g.44260509G>T | CA399795269 | SLC4A1 | c.380C>A (p.Ser127Tyr) n.314C>A n.519C>A c.185C>A (p.Ser62Tyr) | |
17 | g.44260510A= | CA2261310931 | SLC4A1 | c.379T= (p.Ser127=) n.313T= n.518T= c.184T= (p.Ser62=) | |
17 | g.44260510A>C | CA399795275 | SLC4A1 | c.379T>G (p.Ser127Ala) n.313T>G n.518T>G c.184T>G (p.Ser62Ala) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44260510A>G | CA399795278 | SLC4A1 | c.379T>C (p.Ser127Pro) n.313T>C n.518T>C c.184T>C (p.Ser62Pro) | |
17 | g.44260510A>T | CA399795281 | SLC4A1 | c.379T>A (p.Ser127Thr) n.313T>A n.518T>A c.184T>A (p.Ser62Thr) | |
17 | g.44260511G>A | CA8600616 | SLC4A1 | c.378C>T (p.Thr126=) n.312C>T n.517C>T c.183C>T (p.Thr61=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44260511G>C | CA500288626 | SLC4A1 | c.378C>G (p.Thr126=) n.312C>G n.517C>G c.183C>G (p.Thr61=) | |
17 | g.44260511G= | CA2261310932 | SLC4A1 | c.378C= (p.Thr126=) n.312C= n.517C= c.183C= (p.Thr61=) | |
17 | g.44260511G>T | CA500288627 | SLC4A1 | c.378C>A (p.Thr126=) n.312C>A n.517C>A c.183C>A (p.Thr61=) | |
17 | g.44260512G>A | CA399795297 | SLC4A1 | c.377C>T (p.Thr126Ile) n.311C>T n.516C>T c.182C>T (p.Thr61Ile) | |
17 | g.44260512G>C | CA399795299 | SLC4A1 | c.377C>G (p.Thr126Ser) n.311C>G n.516C>G c.182C>G (p.Thr61Ser) | |
17 | g.44260512G>T | CA399795301 | SLC4A1 | c.377C>A (p.Thr126Asn) n.311C>A n.516C>A c.182C>A (p.Thr61Asn) | |
17 | g.44260513T>A | CA399795307 | SLC4A1 | c.376A>T (p.Thr126Ser) n.310A>T n.515A>T c.181A>T (p.Thr61Ser) | |
17 | g.44260513T>C | CA399795304 | SLC4A1 | c.376A>G (p.Thr126Ala) n.310A>G n.515A>G c.181A>G (p.Thr61Ala) | |
17 | g.44260513T>G | CA399795303 | SLC4A1 | c.376A>C (p.Thr126Pro) n.310A>C n.515A>C c.181A>C (p.Thr61Pro) | |
17 | g.44260514C>A | CA399795308 | SLC4A1 | c.375G>T (p.Glu125Asp) n.309G>T n.514G>T c.180G>T (p.Glu60Asp) | |
17 | g.44260514C= | CA2261310933 | SLC4A1 | c.375G= (p.Glu125=) n.309G= n.514G= c.180G= (p.Glu60=) | |
17 | g.44260514C>G | CA399795312 | SLC4A1 | c.375G>C (p.Glu125Asp) n.309G>C n.514G>C c.180G>C (p.Glu60Asp) | |
17 | g.44260514C>T | CA8600617 | SLC4A1 | c.375G>A (p.Glu125=) n.309G>A n.514G>A c.180G>A (p.Glu60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44260515T>A | CA399795319 | SLC4A1 | c.374A>T (p.Glu125Val) n.308A>T n.513A>T c.179A>T (p.Glu60Val) | |
17 | g.44260515T>C | CA399795321 | SLC4A1 | c.374A>G (p.Glu125Gly) n.308A>G n.513A>G c.179A>G (p.Glu60Gly) | gnomAD v4 |