| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.36265184C>A | CA411366264 | APOL1 | c.348C>A (p.Asp116Glu) c.*110C>A (n.*110C>A) c.435C>A (p.Asp145Glu) c.396C>A (p.Asp132Glu) c.294C>A (p.Asp98Glu) c.-16C>A (n.-16C>A) | gnomAD v4 |
| 22 | g.36265184C>G | CA411366263 | APOL1 | c.348C>G (p.Asp116Glu) c.*110C>G (n.*110C>G) c.435C>G (p.Asp145Glu) c.396C>G (p.Asp132Glu) c.294C>G (p.Asp98Glu) c.-16C>G (n.-16C>G) | |
| 22 | g.36265184C>T | CA514472741 | APOL1 | c.348C>T (p.Asp116=) c.*110C>T (n.*110C>T) c.435C>T (p.Asp145=) c.396C>T (p.Asp132=) c.294C>T (p.Asp98=) c.-16C>T (n.-16C>T) | gnomAD v4 |
| 22 | g.36265185A>C | CA411366267 | APOL1 | c.349A>C (p.Asn117His) c.*111A>C (n.*111A>C) c.436A>C (p.Asn146His) c.397A>C (p.Asn133His) c.295A>C (p.Asn99His) c.-15A>C (n.-15A>C) | gnomAD v4 |
| 22 | g.36265185A>G | CA411366265 | APOL1 | c.349A>G (p.Asn117Asp) c.*111A>G (n.*111A>G) c.436A>G (p.Asn146Asp) c.397A>G (p.Asn133Asp) c.295A>G (p.Asn99Asp) c.-15A>G (n.-15A>G) | |
| 22 | g.36265185A>T | CA411366266 | APOL1 | c.349A>T (p.Asn117Tyr) c.*111A>T (n.*111A>T) c.436A>T (p.Asn146Tyr) c.397A>T (p.Asn133Tyr) c.295A>T (p.Asn99Tyr) c.-15A>T (n.-15A>T) | |
| 22 | g.36265186A= | CA2403786638 | APOL1 | c.350A= (p.Asn117=) c.*112A= (n.*112A=) c.437A= (p.Asn146=) c.398A= (p.Asn133=) c.296A= (p.Asn99=) c.-14A= (n.-14A=) | |
| 22 | g.36265186A>C | CA411366268 | APOL1 | c.350A>C (p.Asn117Thr) c.*112A>C (n.*112A>C) c.437A>C (p.Asn146Thr) c.398A>C (p.Asn133Thr) c.296A>C (p.Asn99Thr) c.-14A>C (n.-14A>C) | |
| 22 | g.36265186A>G | CA411366269 | APOL1 | c.350A>G (p.Asn117Ser) c.*112A>G (n.*112A>G) c.437A>G (p.Asn146Ser) c.398A>G (p.Asn133Ser) c.296A>G (p.Asn99Ser) c.-14A>G (n.-14A>G) | dbSNP |
| 22 | g.36265186A>T | CA411366270 | APOL1 | c.350A>T (p.Asn117Ile) c.*112A>T (n.*112A>T) c.437A>T (p.Asn146Ile) c.398A>T (p.Asn133Ile) c.296A>T (p.Asn99Ile) c.-14A>T (n.-14A>T) | |
| 22 | g.36265187C>A | CA411366271 | APOL1 | c.351C>A (p.Asn117Lys) c.*113C>A (n.*113C>A) c.438C>A (p.Asn146Lys) c.399C>A (p.Asn133Lys) c.297C>A (p.Asn99Lys) c.-13C>A (n.-13C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.36265187C= | CA2403786639 | APOL1 | c.351C= (p.Asn117=) c.*113C= (n.*113C=) c.438C= (p.Asn146=) c.399C= (p.Asn133=) c.297C= (p.Asn99=) c.-13C= (n.-13C=) | |
| 22 | g.36265187C>G | CA411366272 | APOL1 | c.351C>G (p.Asn117Lys) c.*113C>G (n.*113C>G) c.438C>G (p.Asn146Lys) c.399C>G (p.Asn133Lys) c.297C>G (p.Asn99Lys) c.-13C>G (n.-13C>G) | |
| 22 | g.36265187C>T | CA514472745 | APOL1 | c.351C>T (p.Asn117=) c.*113C>T (n.*113C>T) c.438C>T (p.Asn146=) c.399C>T (p.Asn133=) c.297C>T (p.Asn99=) c.-13C>T (n.-13C>T) | COSMIC |
| 22 | g.36265188C>A | CA411366273 | APOL1 | c.352C>A (p.Leu118Ile) c.*114C>A (n.*114C>A) c.439C>A (p.Leu147Ile) c.400C>A (p.Leu134Ile) c.298C>A (p.Leu100Ile) c.-12C>A (n.-12C>A) | |
| 22 | g.36265188C= | CA2403786640 | APOL1 | c.352C= (p.Leu118=) c.*114C= (n.*114C=) c.439C= (p.Leu147=) c.400C= (p.Leu134=) c.298C= (p.Leu100=) c.-12C= (n.-12C=) | |
| 22 | g.36265188C>G | CA411366274 | APOL1 | c.352C>G (p.Leu118Val) c.*114C>G (n.*114C>G) c.439C>G (p.Leu147Val) c.400C>G (p.Leu134Val) c.298C>G (p.Leu100Val) c.-12C>G (n.-12C>G) | |
| 22 | g.36265188C>T | CA411366275 | APOL1 | c.352C>T (p.Leu118Phe) c.*114C>T (n.*114C>T) c.439C>T (p.Leu147Phe) c.400C>T (p.Leu134Phe) c.298C>T (p.Leu100Phe) c.-12C>T (n.-12C>T) | dbSNP |
| 22 | g.36265189T>A | CA411366276 | APOL1 | c.353T>A (p.Leu118His) c.*115T>A (n.*115T>A) c.440T>A (p.Leu147His) c.401T>A (p.Leu134His) c.299T>A (p.Leu100His) c.-11T>A (n.-11T>A) | |
| 22 | g.36265189T>C | CA411366277 | APOL1 | c.353T>C (p.Leu118Pro) c.*115T>C (n.*115T>C) c.440T>C (p.Leu147Pro) c.401T>C (p.Leu134Pro) c.299T>C (p.Leu100Pro) c.-11T>C (n.-11T>C) | |
| 22 | g.36265189T>G | CA411366278 | APOL1 | c.353T>G (p.Leu118Arg) c.*115T>G (n.*115T>G) c.440T>G (p.Leu147Arg) c.401T>G (p.Leu134Arg) c.299T>G (p.Leu100Arg) c.-11T>G (n.-11T>G) | |
| 22 | g.36265190T>A | CA514472748 | APOL1 | c.354T>A (p.Leu118=) c.*116T>A (n.*116T>A) c.441T>A (p.Leu147=) c.402T>A (p.Leu134=) c.300T>A (p.Leu100=) c.-10T>A (n.-10T>A) | |
| 22 | g.36265190T>C | CA514472749 | APOL1 | c.354T>C (p.Leu118=) c.*116T>C (n.*116T>C) c.441T>C (p.Leu147=) c.402T>C (p.Leu134=) c.300T>C (p.Leu100=) c.-10T>C (n.-10T>C) | dbSNP gnomAD v4 |
| 22 | g.36265190T>G | CA514472750 | APOL1 | c.354T>G (p.Leu118=) c.*116T>G (n.*116T>G) c.441T>G (p.Leu147=) c.402T>G (p.Leu134=) c.300T>G (p.Leu100=) c.-10T>G (n.-10T>G) | |
| 22 | g.36265190T= | CA2403786641 | APOL1 | c.354T= (p.Leu118=) c.*116T= (n.*116T=) c.441T= (p.Leu147=) c.402T= (p.Leu134=) c.300T= (p.Leu100=) c.-10T= (n.-10T=) | |
| 22 | g.36265191G>A | CA411366279 | APOL1 | c.355G>A (p.Ala119Thr) c.*117G>A (n.*117G>A) c.442G>A (p.Ala148Thr) c.403G>A (p.Ala135Thr) c.301G>A (p.Ala101Thr) c.-9G>A (n.-9G>A) | |
| 22 | g.36265191G>C | CA411366281 | APOL1 | c.355G>C (p.Ala119Pro) c.*117G>C (n.*117G>C) c.442G>C (p.Ala148Pro) c.403G>C (p.Ala135Pro) c.301G>C (p.Ala101Pro) c.-9G>C (n.-9G>C) | |
| 22 | g.36265191G>T | CA411366280 | APOL1 | c.355G>T (p.Ala119Ser) c.*117G>T (n.*117G>T) c.442G>T (p.Ala148Ser) c.403G>T (p.Ala135Ser) c.301G>T (p.Ala101Ser) c.-9G>T (n.-9G>T) | |
| 22 | g.36265192C>A | CA411366282 | APOL1 | c.356C>A (p.Ala119Glu) c.*118C>A (n.*118C>A) c.443C>A (p.Ala148Glu) c.404C>A (p.Ala135Glu) c.302C>A (p.Ala101Glu) c.-8C>A (n.-8C>A) | |
| 22 | g.36265192C>G | CA411366283 | APOL1 | c.356C>G (p.Ala119Gly) c.*118C>G (n.*118C>G) c.443C>G (p.Ala148Gly) c.404C>G (p.Ala135Gly) c.302C>G (p.Ala101Gly) c.-8C>G (n.-8C>G) | |
| 22 | g.36265192C>T | CA411366284 | APOL1 | c.356C>T (p.Ala119Val) c.*118C>T (n.*118C>T) c.443C>T (p.Ala148Val) c.404C>T (p.Ala135Val) c.302C>T (p.Ala101Val) c.-8C>T (n.-8C>T) | gnomAD v4 |
| 22 | g.36265193A>C | CA514472752 | APOL1 | c.357A>C (p.Ala119=) c.*119A>C (n.*119A>C) c.444A>C (p.Ala148=) c.405A>C (p.Ala135=) c.303A>C (p.Ala101=) c.-7A>C (n.-7A>C) | |
| 22 | g.36265193A>G | CA514472754 | APOL1 | c.357A>G (p.Ala119=) c.*119A>G (n.*119A>G) c.444A>G (p.Ala148=) c.405A>G (p.Ala135=) c.303A>G (p.Ala101=) c.-7A>G (n.-7A>G) | |
| 22 | g.36265193A>T | CA514472753 | APOL1 | c.357A>T (p.Ala119=) c.*119A>T (n.*119A>T) c.444A>T (p.Ala148=) c.405A>T (p.Ala135=) c.303A>T (p.Ala101=) c.-7A>T (n.-7A>T) | |
| 22 | g.36265194A>C | CA514472756 | APOL1 | c.358A>C (p.Arg120=) c.*120A>C (n.*120A>C) c.445A>C (p.Arg149=) c.406A>C (p.Arg136=) c.304A>C (p.Arg102=) c.-6A>C (n.-6A>C) | |
| 22 | g.36265194A>G | CA411366285 | APOL1 | c.358A>G (p.Arg120Gly) c.*120A>G (n.*120A>G) c.445A>G (p.Arg149Gly) c.406A>G (p.Arg136Gly) c.304A>G (p.Arg102Gly) c.-6A>G (n.-6A>G) | |
| 22 | g.36265194A>T | CA411366286 | APOL1 | c.358A>T (p.Arg120Ter) c.*120A>T (n.*120A>T) c.445A>T (p.Arg149Ter) c.406A>T (p.Arg136Ter) c.304A>T (p.Arg102Ter) c.-6A>T (n.-6A>T) | |
| 22 | g.36265195G>A | CA411366287 | APOL1 | c.359G>A (p.Arg120Lys) c.*121G>A (n.*121G>A) c.446G>A (p.Arg149Lys) c.407G>A (p.Arg136Lys) c.305G>A (p.Arg102Lys) c.-5G>A (n.-5G>A) | gnomAD v4 |
| 22 | g.36265195G>C | CA411366288 | APOL1 | c.359G>C (p.Arg120Thr) c.*121G>C (n.*121G>C) c.446G>C (p.Arg149Thr) c.407G>C (p.Arg136Thr) c.305G>C (p.Arg102Thr) c.-5G>C (n.-5G>C) | ClinVar |
| 22 | g.36265195G>T | CA411366289 | APOL1 | c.359G>T (p.Arg120Ile) c.*121G>T (n.*121G>T) c.446G>T (p.Arg149Ile) c.407G>T (p.Arg136Ile) c.305G>T (p.Arg102Ile) c.-5G>T (n.-5G>T) | |
| 22 | g.36265196A= | CA2403786642 | APOL1 | c.360A= (p.Arg120=) c.*122A= (n.*122A=) c.447A= (p.Arg149=) c.408A= (p.Arg136=) c.306A= (p.Arg102=) c.-4A= (n.-4A=) | |
| 22 | g.36265196A>C | CA411366290 | APOL1 | c.360A>C (p.Arg120Ser) c.*122A>C (n.*122A>C) c.447A>C (p.Arg149Ser) c.408A>C (p.Arg136Ser) c.306A>C (p.Arg102Ser) c.-4A>C (n.-4A>C) | |
| 22 | g.36265196A>G | CA514472758 | APOL1 | c.360A>G (p.Arg120=) c.*122A>G (n.*122A>G) c.447A>G (p.Arg149=) c.408A>G (p.Arg136=) c.306A>G (p.Arg102=) c.-4A>G (n.-4A>G) | |
| 22 | g.36265196A>T | CA411366291 | APOL1 | c.360A>T (p.Arg120Ser) c.*122A>T (n.*122A>T) c.447A>T (p.Arg149Ser) c.408A>T (p.Arg136Ser) c.306A>T (p.Arg102Ser) c.-4A>T (n.-4A>T) | dbSNP gnomAD v2 |
| 22 | g.36265197C>A | CA411366293 | APOL1 | c.361C>A (p.Gln121Lys) c.*123C>A (n.*123C>A) c.448C>A (p.Gln150Lys) c.409C>A (p.Gln137Lys) c.307C>A (p.Gln103Lys) c.-3C>A (n.-3C>A) | |
| 22 | g.36265197C>G | CA411366294 | APOL1 | c.361C>G (p.Gln121Glu) c.*123C>G (n.*123C>G) c.448C>G (p.Gln150Glu) c.409C>G (p.Gln137Glu) c.307C>G (p.Gln103Glu) c.-3C>G (n.-3C>G) | |
| 22 | g.36265197C>T | CA411366292 | APOL1 | c.361C>T (p.Gln121Ter) c.*123C>T (n.*123C>T) c.448C>T (p.Gln150Ter) c.409C>T (p.Gln137Ter) c.307C>T (p.Gln103Ter) c.-3C>T (n.-3C>T) | |
| 22 | g.36265198A>C | CA411366295 | APOL1 | c.362A>C (p.Gln121Pro) c.*124A>C (n.*124A>C) c.449A>C (p.Gln150Pro) c.410A>C (p.Gln137Pro) c.308A>C (p.Gln103Pro) c.-2A>C (n.-2A>C) | |
| 22 | g.36265198A>G | CA411366296 | APOL1 | c.362A>G (p.Gln121Arg) c.*124A>G (n.*124A>G) c.449A>G (p.Gln150Arg) c.410A>G (p.Gln137Arg) c.308A>G (p.Gln103Arg) c.-2A>G (n.-2A>G) | |
| 22 | g.36265198A>T | CA411366297 | APOL1 | c.362A>T (p.Gln121Leu) c.*124A>T (n.*124A>T) c.449A>T (p.Gln150Leu) c.410A>T (p.Gln137Leu) c.308A>T (p.Gln103Leu) c.-2A>T (n.-2A>T) |