| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693304G>A | CA515071078 | A4GALT,CYB5R3 | c.-49+27493C>T (n.-49+27493C>T) c.648C>T (p.Leu216=) | COSMIC |
| 22 | g.42693304G>C | CA515071088 | A4GALT,CYB5R3 | c.-49+27493C>G (n.-49+27493C>G) c.648C>G (p.Leu216=) | |
| 22 | g.42693304G>T | CA515071090 | A4GALT,CYB5R3 | c.-49+27493C>A (n.-49+27493C>A) c.648C>A (p.Leu216=) | |
| 22 | g.42693305A= | CA2406870230 | A4GALT,CYB5R3 | c.-49+27492T= (n.-49+27492T=) c.647T= (p.Leu216=) | |
| 22 | g.42693305A>C | CA324732270 | A4GALT,CYB5R3 | c.-49+27492T>G (n.-49+27492T>G) c.647T>G (p.Leu216Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693305A>G | CA411811844 | A4GALT,CYB5R3 | c.-49+27492T>C (n.-49+27492T>C) c.647T>C (p.Leu216Pro) | |
| 22 | g.42693305A>T | CA411811841 | A4GALT,CYB5R3 | c.-49+27492T>A (n.-49+27492T>A) c.647T>A (p.Leu216His) | dbSNP gnomAD v4 |
| 22 | g.42693306G>A | CA411811847 | A4GALT,CYB5R3 | c.-49+27491C>T (n.-49+27491C>T) c.646C>T (p.Leu216Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693306G>C | CA411811849 | A4GALT,CYB5R3 | c.-49+27491C>G (n.-49+27491C>G) c.646C>G (p.Leu216Val) | |
| 22 | g.42693306G= | CA2406870231 | A4GALT,CYB5R3 | c.-49+27491C= (n.-49+27491C=) c.646C= (p.Leu216=) | |
| 22 | g.42693306G>T | CA411811850 | A4GALT,CYB5R3 | c.-49+27491C>A (n.-49+27491C>A) c.646C>A (p.Leu216Ile) | |
| 22 | g.42693310_42693319del | CA2577739307 | A4GALT,CYB5R3 | c.-49+27482_-49+27491del (n.-49+27482_-49+27491del) c.637_646del (p.Arg213SerfsTer?) | |
| 22 | g.42693307G>A | CA515072269 | A4GALT,CYB5R3 | c.-49+27490C>T (n.-49+27490C>T) c.645C>T (p.Val215=) | gnomAD v4 |
| 22 | g.42693307G>C | CA515072271 | A4GALT,CYB5R3 | c.-49+27490C>G (n.-49+27490C>G) c.645C>G (p.Val215=) | dbSNP |
| 22 | g.42693307G= | CA2406870232 | A4GALT,CYB5R3 | c.-49+27490C= (n.-49+27490C=) c.645C= (p.Val215=) | |
| 22 | g.42693307G>T | CA515072273 | A4GALT,CYB5R3 | c.-49+27490C>A (n.-49+27490C>A) c.645C>A (p.Val215=) | |
| 22 | g.42693308A>C | CA411811853 | A4GALT,CYB5R3 | c.-49+27489T>G (n.-49+27489T>G) c.644T>G (p.Val215Gly) | |
| 22 | g.42693308A>G | CA411811855 | A4GALT,CYB5R3 | c.-49+27489T>C (n.-49+27489T>C) c.644T>C (p.Val215Ala) | |
| 22 | g.42693308A>T | CA411811856 | A4GALT,CYB5R3 | c.-49+27489T>A (n.-49+27489T>A) c.644T>A (p.Val215Asp) | |
| 22 | g.42693309C>A | CA411811858 | A4GALT,CYB5R3 | c.-49+27488G>T (n.-49+27488G>T) c.643G>T (p.Val215Phe) | |
| 22 | g.42693309C= | CA2406870233 | A4GALT,CYB5R3 | c.-49+27488G= (n.-49+27488G=) c.643G= (p.Val215=) | |
| 22 | g.42693309C>G | CA10270250 | A4GALT,CYB5R3 | c.-49+27488G>C (n.-49+27488G>C) c.643G>C (p.Val215Leu) | dbSNP ExAC gnomAD v2 |
| 22 | g.42693309C>T | CA10270249 | A4GALT,CYB5R3 | c.-49+27488G>A (n.-49+27488G>A) c.643G>A (p.Val215Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693310del | CA2657079472 | A4GALT,CYB5R3 | c.-49+27487del (n.-49+27487del) c.642del (p.Tyr214Ter) | gnomAD v4 |
| 22 | g.42693310G>A | CA515072286 | A4GALT,CYB5R3 | c.-49+27487C>T (n.-49+27487C>T) c.642C>T (p.Tyr214=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693310G>C | CA411811861 | A4GALT,CYB5R3 | c.-49+27487C>G (n.-49+27487C>G) c.642C>G (p.Tyr214Ter) | COSMIC |
| 22 | g.42693310G= | CA2406870234 | A4GALT,CYB5R3 | c.-49+27487C= (n.-49+27487C=) c.642C= (p.Tyr214=) | |
| 22 | g.42693310G>T | CA411811863 | A4GALT,CYB5R3 | c.-49+27487C>A (n.-49+27487C>A) c.642C>A (p.Tyr214Ter) | gnomAD v4 |
| 22 | g.42693311T>A | CA411811865 | A4GALT,CYB5R3 | c.-49+27486A>T (n.-49+27486A>T) c.641A>T (p.Tyr214Phe) | |
| 22 | g.42693311T>C | CA411811869 | A4GALT,CYB5R3 | c.-49+27486A>G (n.-49+27486A>G) c.641A>G (p.Tyr214Cys) | dbSNP gnomAD v4 |
| 22 | g.42693311T>G | CA411811866 | A4GALT,CYB5R3 | c.-49+27486A>C (n.-49+27486A>C) c.641A>C (p.Tyr214Ser) | |
| 22 | g.42693311_42693312del | CA2657079473 | A4GALT,CYB5R3 | c.-49+27485_-49+27486del (n.-49+27485_-49+27486del) c.640_641del (p.Tyr214ArgfsTer?) | gnomAD v4 |
| 22 | g.42693312A= | CA2406870235 | A4GALT,CYB5R3 | c.-49+27485T= (n.-49+27485T=) c.640T= (p.Tyr214=) | |
| 22 | g.42693312A>C | CA411811871 | A4GALT,CYB5R3 | c.-49+27485T>G (n.-49+27485T>G) c.640T>G (p.Tyr214Asp) | |
| 22 | g.42693312A>G | CA411811872 | A4GALT,CYB5R3 | c.-49+27485T>C (n.-49+27485T>C) c.640T>C (p.Tyr214His) | |
| 22 | g.42693312A>T | CA324732274 | A4GALT,CYB5R3 | c.-49+27485T>A (n.-49+27485T>A) c.640T>A (p.Tyr214Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693312_42693322delinsAGCGGGACTGG | CA2406870236 | A4GALT,CYB5R3 | c.-49+27475_-49+27485delinsCCAGTCCCGCT (n.-49+27475_-49+27485delinsCCAGTCCCGCT) c.630_640delinsCCAGTCCCGCT (p.Thr210=) | |
| 22 | g.42693313G>A | CA515072296 | A4GALT,CYB5R3 | c.-49+27484C>T (n.-49+27484C>T) c.639C>T (p.Arg213=) | gnomAD v4 |
| 22 | g.42693313G>C | CA515072297 | A4GALT,CYB5R3 | c.-49+27484C>G (n.-49+27484C>G) c.639C>G (p.Arg213=) | |
| 22 | g.42693313G>T | CA515072299 | A4GALT,CYB5R3 | c.-49+27484C>A (n.-49+27484C>A) c.639C>A (p.Arg213=) | |
| 22 | g.42693314_42693321del | CA2657079474 | A4GALT,CYB5R3 | c.-49+27477_-49+27484del (n.-49+27477_-49+27484del) c.632_639del (p.Gln211LeufsTer?) | gnomAD v4 |
| 22 | g.42693314_42693323del | CA639829272 | A4GALT,CYB5R3 | c.-49+27475_-49+27484del (n.-49+27475_-49+27484del) c.630_639del (p.Gln211ThrfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693314C>A | CA411811877 | A4GALT,CYB5R3 | c.-49+27483G>T (n.-49+27483G>T) c.638G>T (p.Arg213Leu) | gnomAD v4 |
| 22 | g.42693314C= | CA2406870237 | A4GALT,CYB5R3 | c.-49+27483G= (n.-49+27483G=) c.638G= (p.Arg213=) | |
| 22 | g.42693314C>G | CA411811879 | A4GALT,CYB5R3 | c.-49+27483G>C (n.-49+27483G>C) c.638G>C (p.Arg213Pro) | |
| 22 | g.42693314C>T | CA411811881 | A4GALT,CYB5R3 | c.-49+27483G>A (n.-49+27483G>A) c.638G>A (p.Arg213His) | dbSNP gnomAD v4 |
| 22 | g.42693315G>A | CA10270251 | A4GALT,CYB5R3 | c.-49+27482C>T (n.-49+27482C>T) c.637C>T (p.Arg213Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693315G>C | CA411811884 | A4GALT,CYB5R3 | c.-49+27482C>G (n.-49+27482C>G) c.637C>G (p.Arg213Gly) | |
| 22 | g.42693315G= | CA2406870238 | A4GALT,CYB5R3 | c.-49+27482C= (n.-49+27482C=) c.637C= (p.Arg213=) | |
| 22 | g.42693315G>T | CA411811887 | A4GALT,CYB5R3 | c.-49+27482C>A (n.-49+27482C>A) c.637C>A (p.Arg213Ser) |