| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.176621218G>A | CA362260439 | SNCB | c.368C>T (p.Pro123Leu) n.965C>T c.326C>T (p.Pro109Leu) c.283-375C>T (n.283-375C>T) | |
| 5 | g.176621218G>C | CA362260440 | SNCB | c.368C>G (p.Pro123Arg) n.965C>G c.326C>G (p.Pro109Arg) c.283-375C>G (n.283-375C>G) | |
| 5 | g.176621218G= | CA1603223069 | SNCB | c.368C= (p.Pro123=) n.965C= c.326C= (p.Pro109=) c.283-375C= (n.283-375C=) | |
| 5 | g.176621218G>T | CA118593 | SNCB | c.368C>A (p.Pro123His) n.965C>A c.326C>A (p.Pro109His) c.283-375C>A (n.283-375C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.176621219G>A | CA362260441 | SNCB | c.367C>T (p.Pro123Ser) n.964C>T c.325C>T (p.Pro109Ser) c.283-376C>T (n.283-376C>T) | |
| 5 | g.176621219G>C | CA362260442 | SNCB | c.367C>G (p.Pro123Ala) n.964C>G c.325C>G (p.Pro109Ala) c.283-376C>G (n.283-376C>G) | |
| 5 | g.176621219G>T | CA362260443 | SNCB | c.367C>A (p.Pro123Thr) n.964C>A c.325C>A (p.Pro109Thr) c.283-376C>A (n.283-376C>A) | |
| 5 | g.176621220T>A | CA447706041 | SNCB | c.366A>T (p.Pro122=) n.963A>T c.324A>T (p.Pro108=) c.283-377A>T (n.283-377A>T) | |
| 5 | g.176621220T>C | CA447706043 | SNCB | c.366A>G (p.Pro122=) n.963A>G c.324A>G (p.Pro108=) c.283-377A>G (n.283-377A>G) | |
| 5 | g.176621220T>G | CA447706042 | SNCB | c.366A>C (p.Pro122=) n.963A>C c.324A>C (p.Pro108=) c.283-377A>C (n.283-377A>C) | |
| 5 | g.176621221G>A | CA362260444 | SNCB | c.365C>T (p.Pro122Leu) n.962C>T c.323C>T (p.Pro108Leu) c.283-378C>T (n.283-378C>T) | |
| 5 | g.176621221G>C | CA362260445 | SNCB | c.365C>G (p.Pro122Arg) n.962C>G c.323C>G (p.Pro108Arg) c.283-378C>G (n.283-378C>G) | |
| 5 | g.176621221G>T | CA362260446 | SNCB | c.365C>A (p.Pro122Gln) n.962C>A c.323C>A (p.Pro108Gln) c.283-378C>A (n.283-378C>A) | |
| 5 | g.176621222G>A | CA362260447 | SNCB | c.364C>T (p.Pro122Ser) n.961C>T c.322C>T (p.Pro108Ser) c.283-379C>T (n.283-379C>T) | |
| 5 | g.176621222G>C | CA362260448 | SNCB | c.364C>G (p.Pro122Ala) n.961C>G c.322C>G (p.Pro108Ala) c.283-379C>G (n.283-379C>G) | |
| 5 | g.176621222G>T | CA362260449 | SNCB | c.364C>A (p.Pro122Thr) n.961C>A c.322C>A (p.Pro108Thr) c.283-379C>A (n.283-379C>A) | |
| 5 | g.176621223G>A | CA447706051 | SNCB | c.363C>T (p.Asp121=) n.960C>T c.321C>T (p.Asp107=) c.283-380C>T (n.283-380C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.176621223G>C | CA362260450 | SNCB | c.363C>G (p.Asp121Glu) n.960C>G c.321C>G (p.Asp107Glu) c.283-380C>G (n.283-380C>G) | |
| 5 | g.176621223G= | CA1603223074 | SNCB | c.363C= (p.Asp121=) n.960C= c.321C= (p.Asp107=) c.283-380C= (n.283-380C=) | |
| 5 | g.176621223G>T | CA362260451 | SNCB | c.363C>A (p.Asp121Glu) n.960C>A c.321C>A (p.Asp107Glu) c.283-380C>A (n.283-380C>A) | |
| 5 | g.176621224T>A | CA362260452 | SNCB | c.362A>T (p.Asp121Val) n.959A>T c.320A>T (p.Asp107Val) c.283-381A>T (n.283-381A>T) | |
| 5 | g.176621224T>C | CA362260453 | SNCB | c.362A>G (p.Asp121Gly) n.959A>G c.320A>G (p.Asp107Gly) c.283-381A>G (n.283-381A>G) | |
| 5 | g.176621224T>G | CA362260454 | SNCB | c.362A>C (p.Asp121Ala) n.959A>C c.320A>C (p.Asp107Ala) c.283-381A>C (n.283-381A>C) | |
| 5 | g.176621225C>A | CA362260455 | SNCB | c.361G>T (p.Asp121Tyr) n.958G>T c.319G>T (p.Asp107Tyr) c.283-382G>T (n.283-382G>T) | |
| 5 | g.176621225C>G | CA362260456 | SNCB | c.361G>C (p.Asp121His) n.958G>C c.319G>C (p.Asp107His) c.283-382G>C (n.283-382G>C) | |
| 5 | g.176621225C>T | CA362260457 | SNCB | c.361G>A (p.Asp121Asn) n.958G>A c.319G>A (p.Asp107Asn) c.283-382G>A (n.283-382G>A) | |
| 5 | g.176621225_176621227delinsCCT | CA1603223080 | SNCB | c.359_361delinsAGG (p.Glu120=) n.956_958delinsAGG c.317_319delinsAGG (p.Glu106=) c.283-384_283-382delinsAGG (n.283-384_283-382delinsAGG) | |
| 5 | g.176621226C>A | CA362260458 | SNCB | c.360G>T (p.Glu120Asp) n.957G>T c.318G>T (p.Glu106Asp) c.283-383G>T (n.283-383G>T) | |
| 5 | g.176621226C= | CA1603223083 | SNCB | c.360G= (p.Glu120=) n.957G= c.318G= (p.Glu106=) c.283-383G= (n.283-383G=) | |
| 5 | g.176621226C>G | CA3572172 | SNCB | c.360G>C (p.Glu120Asp) n.957G>C c.318G>C (p.Glu106Asp) c.283-383G>C (n.283-383G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.176621226C>T | CA447706059 | SNCB | c.360G>A (p.Glu120=) n.957G>A c.318G>A (p.Glu106=) c.283-383G>A (n.283-383G>A) | dbSNP |
| 5 | g.176621227_176621228del | CA564458072 | SNCB | c.359_360del (p.Glu120GlyfsTer11) n.956_957del c.317_318del (p.Glu106GlyfsTer11) c.359_360del (p.Glu120GlyfsTer25) c.283-384_283-383del (n.283-384_283-383del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.176621227T>A | CA362260459 | SNCB | c.359A>T (p.Glu120Val) n.956A>T c.317A>T (p.Glu106Val) c.283-384A>T (n.283-384A>T) | |
| 5 | g.176621227T>C | CA362260460 | SNCB | c.359A>G (p.Glu120Gly) n.956A>G c.317A>G (p.Glu106Gly) c.283-384A>G (n.283-384A>G) | |
| 5 | g.176621227T>G | CA362260461 | SNCB | c.359A>C (p.Glu120Ala) n.956A>C c.317A>C (p.Glu106Ala) c.283-384A>C (n.283-384A>C) | |
| 5 | g.176621228C>A | CA362260462 | SNCB | c.358G>T (p.Glu120Ter) n.955G>T c.316G>T (p.Glu106Ter) c.283-385G>T (n.283-385G>T) | |
| 5 | g.176621228C>G | CA362260464 | SNCB | c.358G>C (p.Glu120Gln) n.955G>C c.316G>C (p.Glu106Gln) c.283-385G>C (n.283-385G>C) | dbSNP |
| 5 | g.176621228C>T | CA362260463 | SNCB | c.358G>A (p.Glu120Lys) n.955G>A c.316G>A (p.Glu106Lys) c.283-385G>A (n.283-385G>A) | |
| 5 | g.176621229A>C | CA362260465 | SNCB | c.357T>G (p.Tyr119Ter) n.954T>G c.315T>G (p.Tyr105Ter) c.283-386T>G (n.283-386T>G) | |
| 5 | g.176621229A>G | CA447706063 | SNCB | c.357T>C (p.Tyr119=) n.954T>C c.315T>C (p.Tyr105=) c.283-386T>C (n.283-386T>C) | |
| 5 | g.176621229A>T | CA362260466 | SNCB | c.357T>A (p.Tyr119Ter) n.954T>A c.315T>A (p.Tyr105Ter) c.283-386T>A (n.283-386T>A) | |
| 5 | g.176621230T>A | CA362260467 | SNCB | c.356A>T (p.Tyr119Phe) n.953A>T c.314A>T (p.Tyr105Phe) c.283-387A>T (n.283-387A>T) | COSMIC |
| 5 | g.176621230T>C | CA362260468 | SNCB | c.356A>G (p.Tyr119Cys) n.953A>G c.314A>G (p.Tyr105Cys) c.283-387A>G (n.283-387A>G) | COSMIC |
| 5 | g.176621230T>G | CA362260469 | SNCB | c.356A>C (p.Tyr119Ser) n.953A>C c.314A>C (p.Tyr105Ser) c.283-387A>C (n.283-387A>C) | |
| 5 | g.176621231A= | CA1603223087 | SNCB | c.355T= (p.Tyr119=) n.952T= c.313T= (p.Tyr105=) c.283-388T= (n.283-388T=) | |
| 5 | g.176621231A>C | CA362260470 | SNCB | c.355T>G (p.Tyr119Asp) n.952T>G c.313T>G (p.Tyr105Asp) c.283-388T>G (n.283-388T>G) | |
| 5 | g.176621231A>G | CA362260471 | SNCB | c.355T>C (p.Tyr119His) n.952T>C c.313T>C (p.Tyr105His) c.283-388T>C (n.283-388T>C) | |
| 5 | g.176621231A>T | CA3572173 | SNCB | c.355T>A (p.Tyr119Asn) n.952T>A c.313T>A (p.Tyr105Asn) c.283-388T>A (n.283-388T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.176621232A= | CA1603223091 | SNCB | c.354T= (p.Ser118=) n.951T= c.312T= (p.Ser104=) c.283-389T= (n.283-389T=) | |
| 5 | g.176621232A>C | CA362260472 | SNCB | c.354T>G (p.Ser118Arg) n.951T>G c.312T>G (p.Ser104Arg) c.283-389T>G (n.283-389T>G) |