| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693293A>C | CA411811790 | A4GALT,CYB5R3 | c.-49+27504T>G (n.-49+27504T>G) c.659T>G (p.Phe220Cys) | |
| 22 | g.42693293A>G | CA411811792 | A4GALT,CYB5R3 | c.-49+27504T>C (n.-49+27504T>C) c.659T>C (p.Phe220Ser) | |
| 22 | g.42693293A>T | CA411811793 | A4GALT,CYB5R3 | c.-49+27504T>A (n.-49+27504T>A) c.659T>A (p.Phe220Tyr) | |
| 22 | g.42693294A>C | CA411811794 | A4GALT,CYB5R3 | c.-49+27503T>G (n.-49+27503T>G) c.658T>G (p.Phe220Val) | |
| 22 | g.42693294A>G | CA411811798 | A4GALT,CYB5R3 | c.-49+27503T>C (n.-49+27503T>C) c.658T>C (p.Phe220Leu) | |
| 22 | g.42693294A>T | CA411811796 | A4GALT,CYB5R3 | c.-49+27503T>A (n.-49+27503T>A) c.658T>A (p.Phe220Ile) | |
| 22 | g.42693294_42693295delinsAC | CA2406870222 | A4GALT,CYB5R3 | c.-49+27502_-49+27503delinsGT (n.-49+27502_-49+27503delinsGT) c.657_658delinsGT (p.Ala219=) | |
| 22 | g.42693295del | CA2406870223 | A4GALT,CYB5R3 | c.-49+27502del (n.-49+27502del) c.657del (p.Phe220SerfsTer?) | dbSNP |
| 22 | g.42693295C>A | CA515071050 | A4GALT,CYB5R3 | c.-49+27502G>T (n.-49+27502G>T) c.657G>T (p.Ala219=) | |
| 22 | g.42693295C= | CA2406870224 | A4GALT,CYB5R3 | c.-49+27502G= (n.-49+27502G=) c.657G= (p.Ala219=) | |
| 22 | g.42693295C>G | CA515071051 | A4GALT,CYB5R3 | c.-49+27502G>C (n.-49+27502G>C) c.657G>C (p.Ala219=) | |
| 22 | g.42693295C>T | CA515071052 | A4GALT,CYB5R3 | c.-49+27502G>A (n.-49+27502G>A) c.657G>A (p.Ala219=) | dbSNP gnomAD v4 |
| 22 | g.42693296G>A | CA10270247 | A4GALT,CYB5R3 | c.-49+27501C>T (n.-49+27501C>T) c.656C>T (p.Ala219Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693296G>C | CA411811800 | A4GALT,CYB5R3 | c.-49+27501C>G (n.-49+27501C>G) c.656C>G (p.Ala219Gly) | |
| 22 | g.42693296G= | CA2406870225 | A4GALT,CYB5R3 | c.-49+27501C= (n.-49+27501C=) c.656C= (p.Ala219=) | |
| 22 | g.42693296G>T | CA411811802 | A4GALT,CYB5R3 | c.-49+27501C>A (n.-49+27501C>A) c.656C>A (p.Ala219Glu) | dbSNP |
| 22 | g.42693297C>A | CA411811805 | A4GALT,CYB5R3 | c.-49+27500G>T (n.-49+27500G>T) c.655G>T (p.Ala219Ser) | |
| 22 | g.42693297C>G | CA411811806 | A4GALT,CYB5R3 | c.-49+27500G>C (n.-49+27500G>C) c.655G>C (p.Ala219Pro) | |
| 22 | g.42693297C>T | CA411811809 | A4GALT,CYB5R3 | c.-49+27500G>A (n.-49+27500G>A) c.655G>A (p.Ala219Thr) | gnomAD v4 COSMIC |
| 22 | g.42693298G>A | CA324732265 | A4GALT,CYB5R3 | c.-49+27499C>T (n.-49+27499C>T) c.654C>T (p.Gly218=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693298G>C | CA515071059 | A4GALT,CYB5R3 | c.-49+27499C>G (n.-49+27499C>G) c.654C>G (p.Gly218=) | |
| 22 | g.42693298G= | CA2406870226 | A4GALT,CYB5R3 | c.-49+27499C= (n.-49+27499C=) c.654C= (p.Gly218=) | |
| 22 | g.42693298G>T | CA515071060 | A4GALT,CYB5R3 | c.-49+27499C>A (n.-49+27499C>A) c.654C>A (p.Gly218=) | |
| 22 | g.42693299C>A | CA411811813 | A4GALT,CYB5R3 | c.-49+27498G>T (n.-49+27498G>T) c.653G>T (p.Gly218Val) | |
| 22 | g.42693299C>G | CA411811815 | A4GALT,CYB5R3 | c.-49+27498G>C (n.-49+27498G>C) c.653G>C (p.Gly218Ala) | |
| 22 | g.42693299C>T | CA411811817 | A4GALT,CYB5R3 | c.-49+27498G>A (n.-49+27498G>A) c.653G>A (p.Gly218Asp) | |
| 22 | g.42693300C>A | CA411811818 | A4GALT,CYB5R3 | c.-49+27497G>T (n.-49+27497G>T) c.652G>T (p.Gly218Cys) | |
| 22 | g.42693300C= | CA2406870227 | A4GALT,CYB5R3 | c.-49+27497G= (n.-49+27497G=) c.652G= (p.Gly218=) | |
| 22 | g.42693300C>G | CA411811821 | A4GALT,CYB5R3 | c.-49+27497G>C (n.-49+27497G>C) c.652G>C (p.Gly218Arg) | gnomAD v4 |
| 22 | g.42693300C>T | CA324732268 | A4GALT,CYB5R3 | c.-49+27497G>A (n.-49+27497G>A) c.652G>A (p.Gly218Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693301G>A | CA10270248 | A4GALT,CYB5R3 | c.-49+27496C>T (n.-49+27496C>T) c.651C>T (p.Asn217=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693301G>C | CA411811826 | A4GALT,CYB5R3 | c.-49+27496C>G (n.-49+27496C>G) c.651C>G (p.Asn217Lys) | |
| 22 | g.42693301G= | CA2406870228 | A4GALT,CYB5R3 | c.-49+27496C= (n.-49+27496C=) c.651C= (p.Asn217=) | |
| 22 | g.42693301G>T | CA411811824 | A4GALT,CYB5R3 | c.-49+27496C>A (n.-49+27496C>A) c.651C>A (p.Asn217Lys) | gnomAD v4 |
| 22 | g.42693302T>A | CA411811829 | A4GALT,CYB5R3 | c.-49+27495A>T (n.-49+27495A>T) c.650A>T (p.Asn217Ile) | |
| 22 | g.42693302T>C | CA411811831 | A4GALT,CYB5R3 | c.-49+27495A>G (n.-49+27495A>G) c.650A>G (p.Asn217Ser) | |
| 22 | g.42693302T>G | CA411811830 | A4GALT,CYB5R3 | c.-49+27495A>C (n.-49+27495A>C) c.650A>C (p.Asn217Thr) | |
| 22 | g.42693303T>A | CA411811834 | A4GALT,CYB5R3 | c.-49+27494A>T (n.-49+27494A>T) c.649A>T (p.Asn217Tyr) | |
| 22 | g.42693303T>C | CA411811837 | A4GALT,CYB5R3 | c.-49+27494A>G (n.-49+27494A>G) c.649A>G (p.Asn217Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693303T>G | CA411811836 | A4GALT,CYB5R3 | c.-49+27494A>C (n.-49+27494A>C) c.649A>C (p.Asn217His) | |
| 22 | g.42693303T= | CA2406870229 | A4GALT,CYB5R3 | c.-49+27494A= (n.-49+27494A=) c.649A= (p.Asn217=) | |
| 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) | |
| 22 | g.42693316G>A | CA515072318 | A4GALT,CYB5R3 | c.-49+27481C>T (n.-49+27481C>T) c.636C>T (p.Ser212=) | |
| 22 | g.42693316G>C | CA515072317 | A4GALT,CYB5R3 | c.-49+27481C>G (n.-49+27481C>G) c.636C>G (p.Ser212=) | |
| 22 | g.42693316G>T | CA515072320 | A4GALT,CYB5R3 | c.-49+27481C>A (n.-49+27481C>A) c.636C>A (p.Ser212=) | |
| 22 | g.42693317G>A | CA411811891 | A4GALT,CYB5R3 | c.-49+27480C>T (n.-49+27480C>T) c.635C>T (p.Ser212Phe) | COSMIC |
| 22 | g.42693317G>C | CA411811893 | A4GALT,CYB5R3 | c.-49+27480C>G (n.-49+27480C>G) c.635C>G (p.Ser212Cys) | |
| 22 | g.42693317G>T | CA411811889 | A4GALT,CYB5R3 | c.-49+27480C>A (n.-49+27480C>A) c.635C>A (p.Ser212Tyr) | |
| 22 | g.42693318A>C | CA411811894 | A4GALT,CYB5R3 | c.-49+27479T>G (n.-49+27479T>G) c.634T>G (p.Ser212Ala) | |
| 22 | g.42693318A>G | CA411811895 | A4GALT,CYB5R3 | c.-49+27479T>C (n.-49+27479T>C) c.634T>C (p.Ser212Pro) | |
| 22 | g.42693318A>T | CA411811897 | A4GALT,CYB5R3 | c.-49+27479T>A (n.-49+27479T>A) c.634T>A (p.Ser212Thr) | |
| 22 | g.42693319C>A | CA411811899 | A4GALT,CYB5R3 | c.-49+27478G>T (n.-49+27478G>T) c.633G>T (p.Gln211His) | |
| 22 | g.42693319C>G | CA411811900 | A4GALT,CYB5R3 | c.-49+27478G>C (n.-49+27478G>C) c.633G>C (p.Gln211His) | |
| 22 | g.42693319C>T | CA515072326 | A4GALT,CYB5R3 | c.-49+27478G>A (n.-49+27478G>A) c.633G>A (p.Gln211=) | |
| 22 | g.42693320T>A | CA411811902 | A4GALT,CYB5R3 | c.-49+27477A>T (n.-49+27477A>T) c.632A>T (p.Gln211Leu) | |
| 22 | g.42693320T>C | CA411811904 | A4GALT,CYB5R3 | c.-49+27477A>G (n.-49+27477A>G) c.632A>G (p.Gln211Arg) | |
| 22 | g.42693320T>G | CA411811906 | A4GALT,CYB5R3 | c.-49+27477A>C (n.-49+27477A>C) c.632A>C (p.Gln211Pro) | |
| 22 | g.42693321G>A | CA411811908 | A4GALT,CYB5R3 | c.-49+27476C>T (n.-49+27476C>T) c.631C>T (p.Gln211Ter) | gnomAD v4 |
| 22 | g.42693321G>C | CA130289 | A4GALT,CYB5R3 | c.-49+27476C>G (n.-49+27476C>G) c.631C>G (p.Gln211Glu) | ClinVar dbSNP |
| 22 | g.42693321G= | CA2406870239 | A4GALT,CYB5R3 | c.-49+27476C= (n.-49+27476C=) c.631C= (p.Gln211=) | |
| 22 | g.42693321G>T | CA411811911 | A4GALT,CYB5R3 | c.-49+27476C>A (n.-49+27476C>A) c.631C>A (p.Gln211Lys) | |
| 22 | g.42693322G>A | CA515072332 | A4GALT,CYB5R3 | c.-49+27475C>T (n.-49+27475C>T) c.630C>T (p.Thr210=) | gnomAD v4 |
| 22 | g.42693322G>C | CA515072334 | A4GALT,CYB5R3 | c.-49+27475C>G (n.-49+27475C>G) c.630C>G (p.Thr210=) | gnomAD v4 |
| 22 | g.42693322G>T | CA515072336 | A4GALT,CYB5R3 | c.-49+27475C>A (n.-49+27475C>A) c.630C>A (p.Thr210=) | |
| 22 | g.42693323G>A | CA411811916 | A4GALT,CYB5R3 | c.-49+27474C>T (n.-49+27474C>T) c.629C>T (p.Thr210Ile) | gnomAD v4 |
| 22 | g.42693323G>C | CA411811914 | A4GALT,CYB5R3 | c.-49+27474C>G (n.-49+27474C>G) c.629C>G (p.Thr210Ser) | |
| 22 | g.42693323G>T | CA411811912 | A4GALT,CYB5R3 | c.-49+27474C>A (n.-49+27474C>A) c.629C>A (p.Thr210Asn) | |
| 22 | g.42693324del | CA2819076052 | A4GALT,CYB5R3 | c.-49+27473del (n.-49+27473del) c.628del (p.Thr210ProfsTer?) | |
| 22 | g.42693324T>A | CA411811918 | A4GALT,CYB5R3 | c.-49+27473A>T (n.-49+27473A>T) c.628A>T (p.Thr210Ser) | |
| 22 | g.42693324T>C | CA411811920 | A4GALT,CYB5R3 | c.-49+27473A>G (n.-49+27473A>G) c.628A>G (p.Thr210Ala) | |
| 22 | g.42693324T>G | CA10270252 | A4GALT,CYB5R3 | c.-49+27473A>C (n.-49+27473A>C) c.628A>C (p.Thr210Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693324T= | CA2406870240 | A4GALT,CYB5R3 | c.-49+27473A= (n.-49+27473A=) c.628A= (p.Thr210=) | |
| 22 | g.42693325G>A | CA10270253 | A4GALT,CYB5R3 | c.-49+27472C>T (n.-49+27472C>T) c.627C>T (p.Gly209=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693325G>C | CA515072350 | A4GALT,CYB5R3 | c.-49+27472C>G (n.-49+27472C>G) c.627C>G (p.Gly209=) | gnomAD v4 |
| 22 | g.42693325G= | CA2406870241 | A4GALT,CYB5R3 | c.-49+27472C= (n.-49+27472C=) c.627C= (p.Gly209=) | |
| 22 | g.42693325G>T | CA515072352 | A4GALT,CYB5R3 | c.-49+27472C>A (n.-49+27472C>A) c.627C>A (p.Gly209=) | |
| 22 | g.42693326C>A | CA10270254 | A4GALT,CYB5R3 | c.-49+27471G>T (n.-49+27471G>T) c.626G>T (p.Gly209Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693326C= | CA2406870242 | A4GALT,CYB5R3 | c.-49+27471G= (n.-49+27471G=) c.626G= (p.Gly209=) | |
| 22 | g.42693326C>G | CA411811926 | A4GALT,CYB5R3 | c.-49+27471G>C (n.-49+27471G>C) c.626G>C (p.Gly209Ala) | |
| 22 | g.42693326C>T | CA411811928 | A4GALT,CYB5R3 | c.-49+27471G>A (n.-49+27471G>A) c.626G>A (p.Gly209Asp) | dbSNP |
| 22 | g.42693327C>A | CA411811930 | A4GALT,CYB5R3 | c.-49+27470G>T (n.-49+27470G>T) c.625G>T (p.Gly209Cys) | |
| 22 | g.42693327C>G | CA411811932 | A4GALT,CYB5R3 | c.-49+27470G>C (n.-49+27470G>C) c.625G>C (p.Gly209Arg) | |
| 22 | g.42693327C>T | CA411811934 | A4GALT,CYB5R3 | c.-49+27470G>A (n.-49+27470G>A) c.625G>A (p.Gly209Ser) | |
| 22 | g.42693328C>A | CA515072361 | A4GALT,CYB5R3 | c.-49+27469G>T (n.-49+27469G>T) c.624G>T (p.Leu208=) | |
| 22 | g.42693328C>G | CA515072362 | A4GALT,CYB5R3 | c.-49+27469G>C (n.-49+27469G>C) c.624G>C (p.Leu208=) | |
| 22 | g.42693328C>T | CA515072363 | A4GALT,CYB5R3 | c.-49+27469G>A (n.-49+27469G>A) c.624G>A (p.Leu208=) | gnomAD v4 |
| 22 | g.42693329A>C | CA411811936 | A4GALT,CYB5R3 | c.-49+27468T>G (n.-49+27468T>G) c.623T>G (p.Leu208Arg) | |
| 22 | g.42693329A>G | CA411811939 | A4GALT,CYB5R3 | c.-49+27468T>C (n.-49+27468T>C) c.623T>C (p.Leu208Pro) | |
| 22 | g.42693329A>T | CA411811940 | A4GALT,CYB5R3 | c.-49+27468T>A (n.-49+27468T>A) c.623T>A (p.Leu208Gln) | |
| 22 | g.42693330G>A | CA515072369 | A4GALT,CYB5R3 | c.-49+27467C>T (n.-49+27467C>T) c.622C>T (p.Leu208=) | |
| 22 | g.42693330G>C | CA411811944 | A4GALT,CYB5R3 | c.-49+27467C>G (n.-49+27467C>G) c.622C>G (p.Leu208Val) | |
| 22 | g.42693330G>T | CA411811942 | A4GALT,CYB5R3 | c.-49+27467C>A (n.-49+27467C>A) c.622C>A (p.Leu208Met) | |
| 22 | g.42693331C>A | CA515072374 | A4GALT,CYB5R3 | c.-49+27466G>T (n.-49+27466G>T) c.621G>T (p.Val207=) | |
| 22 | g.42693331C>G | CA515072376 | A4GALT,CYB5R3 | c.-49+27466G>C (n.-49+27466G>C) c.621G>C (p.Val207=) | |
| 22 | g.42693331C>T | CA515072378 | A4GALT,CYB5R3 | c.-49+27466G>A (n.-49+27466G>A) c.621G>A (p.Val207=) | |
| 22 | g.42693332A= | CA2406870243 | A4GALT,CYB5R3 | c.-49+27465T= (n.-49+27465T=) c.620T= (p.Val207=) | |
| 22 | g.42693332A>C | CA10270255 | A4GALT,CYB5R3 | c.-49+27465T>G (n.-49+27465T>G) c.620T>G (p.Val207Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693332A>G | CA411811947 | A4GALT,CYB5R3 | c.-49+27465T>C (n.-49+27465T>C) c.620T>C (p.Val207Ala) | |
| 22 | g.42693332A>T | CA411811945 | A4GALT,CYB5R3 | c.-49+27465T>A (n.-49+27465T>A) c.620T>A (p.Val207Glu) | |
| 22 | g.42693333C>A | CA411811949 | A4GALT,CYB5R3 | c.-49+27464G>T (n.-49+27464G>T) c.619G>T (p.Val207Leu) | |
| 22 | g.42693333C= | CA2406870244 | A4GALT,CYB5R3 | c.-49+27464G= (n.-49+27464G=) c.619G= (p.Val207=) | |
| 22 | g.42693333C>G | CA411811951 | A4GALT,CYB5R3 | c.-49+27464G>C (n.-49+27464G>C) c.619G>C (p.Val207Leu) | |
| 22 | g.42693333C>T | CA10270256 | A4GALT,CYB5R3 | c.-49+27464G>A (n.-49+27464G>A) c.619G>A (p.Val207Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693334G>A | CA10270257 | A4GALT,CYB5R3 | c.-49+27463C>T (n.-49+27463C>T) c.618C>T (p.Asn206=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693334G>C | CA411811956 | A4GALT,CYB5R3 | c.-49+27463C>G (n.-49+27463C>G) c.618C>G (p.Asn206Lys) | |
| 22 | g.42693334G= | CA2406870245 | A4GALT,CYB5R3 | c.-49+27463C= (n.-49+27463C=) c.618C= (p.Asn206=) | |
| 22 | g.42693334G>T | CA411811958 | A4GALT,CYB5R3 | c.-49+27463C>A (n.-49+27463C>A) c.618C>A (p.Asn206Lys) | |
| 22 | g.42693335T>A | CA411811960 | A4GALT,CYB5R3 | c.-49+27462A>T (n.-49+27462A>T) c.617A>T (p.Asn206Ile) | |
| 22 | g.42693335T>C | CA411811962 | A4GALT,CYB5R3 | c.-49+27462A>G (n.-49+27462A>G) c.617A>G (p.Asn206Ser) | gnomAD v4 |
| 22 | g.42693335T>G | CA411811964 | A4GALT,CYB5R3 | c.-49+27462A>C (n.-49+27462A>C) c.617A>C (p.Asn206Thr) | |
| 22 | g.42693336T>A | CA411811966 | A4GALT,CYB5R3 | c.-49+27461A>T (n.-49+27461A>T) c.616A>T (p.Asn206Tyr) | |
| 22 | g.42693336T>C | CA411811968 | A4GALT,CYB5R3 | c.-49+27461A>G (n.-49+27461A>G) c.616A>G (p.Asn206Asp) | |
| 22 | g.42693336T>G | CA411811970 | A4GALT,CYB5R3 | c.-49+27461A>C (n.-49+27461A>C) c.616A>C (p.Asn206His) | |
| 22 | g.42693337G>A | CA515072395 | A4GALT,CYB5R3 | c.-49+27460C>T (n.-49+27460C>T) c.615C>T (p.Thr205=) | |
| 22 | g.42693337G>C | CA515072397 | A4GALT,CYB5R3 | c.-49+27460C>G (n.-49+27460C>G) c.615C>G (p.Thr205=) | dbSNP |
| 22 | g.42693337G= | CA2406870246 | A4GALT,CYB5R3 | c.-49+27460C= (n.-49+27460C=) c.615C= (p.Thr205=) | |
| 22 | g.42693337G>T | CA515072394 | A4GALT,CYB5R3 | c.-49+27460C>A (n.-49+27460C>A) c.615C>A (p.Thr205=) | |
| 22 | g.42693338G>A | CA411811972 | A4GALT,CYB5R3 | c.-49+27459C>T (n.-49+27459C>T) c.614C>T (p.Thr205Ile) | dbSNP |
| 22 | g.42693338G>C | CA411811975 | A4GALT,CYB5R3 | c.-49+27459C>G (n.-49+27459C>G) c.614C>G (p.Thr205Ser) | |
| 22 | g.42693338G>T | CA411811974 | A4GALT,CYB5R3 | c.-49+27459C>A (n.-49+27459C>A) c.614C>A (p.Thr205Asn) | |
| 22 | g.42693339T>A | CA411811981 | A4GALT,CYB5R3 | c.-49+27458A>T (n.-49+27458A>T) c.613A>T (p.Thr205Ser) | |
| 22 | g.42693339T>C | CA411811983 | A4GALT,CYB5R3 | c.-49+27458A>G (n.-49+27458A>G) c.613A>G (p.Thr205Ala) | |
| 22 | g.42693339T>G | CA411811985 | A4GALT,CYB5R3 | c.-49+27458A>C (n.-49+27458A>C) c.613A>C (p.Thr205Pro) | |
| 22 | g.42693340C>A | CA515072414 | A4GALT,CYB5R3 | c.-49+27457G>T (n.-49+27457G>T) c.612G>T (p.Leu204=) | |
| 22 | g.42693340C>G | CA515072408 | A4GALT,CYB5R3 | c.-49+27457G>C (n.-49+27457G>C) c.612G>C (p.Leu204=) | gnomAD v4 |
| 22 | g.42693340C>T | CA515072406 | A4GALT,CYB5R3 | c.-49+27457G>A (n.-49+27457G>A) c.612G>A (p.Leu204=) | |
| 22 | g.42693341A= | CA2406870247 | A4GALT,CYB5R3 | c.-49+27456T= (n.-49+27456T=) c.611T= (p.Leu204=) | |
| 22 | g.42693341A>C | CA324732289 | A4GALT,CYB5R3 | c.-49+27456T>G (n.-49+27456T>G) c.611T>G (p.Leu204Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693341A>G | CA411811988 | A4GALT,CYB5R3 | c.-49+27456T>C (n.-49+27456T>C) c.611T>C (p.Leu204Pro) | |
| 22 | g.42693341A>T | CA411811990 | A4GALT,CYB5R3 | c.-49+27456T>A (n.-49+27456T>A) c.611T>A (p.Leu204Gln) | |
| 22 | g.42693342G>A | CA515072419 | A4GALT,CYB5R3 | c.-49+27455C>T (n.-49+27455C>T) c.610C>T (p.Leu204=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693342G>C | CA411811993 | A4GALT,CYB5R3 | c.-49+27455C>G (n.-49+27455C>G) c.610C>G (p.Leu204Val) | |
| 22 | g.42693342G= | CA2406870248 | A4GALT,CYB5R3 | c.-49+27455C= (n.-49+27455C=) c.610C= (p.Leu204=) | |
| 22 | g.42693342G>T | CA411811994 | A4GALT,CYB5R3 | c.-49+27455C>A (n.-49+27455C>A) c.610C>A (p.Leu204Met) | gnomAD v4 |
| 22 | g.42693343G>A | CA515072422 | A4GALT,CYB5R3 | c.-49+27454C>T (n.-49+27454C>T) c.609C>T (p.Asn203=) | gnomAD v4 |
| 22 | g.42693343G>C | CA411811995 | A4GALT,CYB5R3 | c.-49+27454C>G (n.-49+27454C>G) c.609C>G (p.Asn203Lys) | |
| 22 | g.42693343G>T | CA411811996 | A4GALT,CYB5R3 | c.-49+27454C>A (n.-49+27454C>A) c.609C>A (p.Asn203Lys) | |
| 22 | g.42693344T>A | CA411811998 | A4GALT,CYB5R3 | c.-49+27453A>T (n.-49+27453A>T) c.608A>T (p.Asn203Ile) | |
| 22 | g.42693344T>C | CA411811999 | A4GALT,CYB5R3 | c.-49+27453A>G (n.-49+27453A>G) c.608A>G (p.Asn203Ser) | |
| 22 | g.42693344T>G | CA411811997 | A4GALT,CYB5R3 | c.-49+27453A>C (n.-49+27453A>C) c.608A>C (p.Asn203Thr) | |
| 22 | g.42693345T>A | CA411812000 | A4GALT,CYB5R3 | c.-49+27452A>T (n.-49+27452A>T) c.607A>T (p.Asn203Tyr) | |
| 22 | g.42693345T>C | CA411812001 | A4GALT,CYB5R3 | c.-49+27452A>G (n.-49+27452A>G) c.607A>G (p.Asn203Asp) | dbSNP gnomAD v4 |
| 22 | g.42693345T>G | CA411812002 | A4GALT,CYB5R3 | c.-49+27452A>C (n.-49+27452A>C) c.607A>C (p.Asn203His) | gnomAD v4 |
| 22 | g.42693345T= | CA2406870249 | A4GALT,CYB5R3 | c.-49+27452A= (n.-49+27452A=) c.607A= (p.Asn203=) | |
| 22 | g.42693346C>A | CA515072431 | A4GALT,CYB5R3 | c.-49+27451G>T (n.-49+27451G>T) c.606G>T (p.Arg202=) | |
| 22 | g.42693346C>G | CA515072433 | A4GALT,CYB5R3 | c.-49+27451G>C (n.-49+27451G>C) c.606G>C (p.Arg202=) | |
| 22 | g.42693346C>T | CA515072434 | A4GALT,CYB5R3 | c.-49+27451G>A (n.-49+27451G>A) c.606G>A (p.Arg202=) | |
| 22 | g.42693347C>A | CA411812003 | A4GALT,CYB5R3 | c.-49+27450G>T (n.-49+27450G>T) c.605G>T (p.Arg202Leu) | |
| 22 | g.42693347C= | CA2406870250 | A4GALT,CYB5R3 | c.-49+27450G= (n.-49+27450G=) c.605G= (p.Arg202=) | |
| 22 | g.42693347C>G | CA411812004 | A4GALT,CYB5R3 | c.-49+27450G>C (n.-49+27450G>C) c.605G>C (p.Arg202Pro) | |
| 22 | g.42693347C>T | CA10270258 | A4GALT,CYB5R3 | c.-49+27450G>A (n.-49+27450G>A) c.605G>A (p.Arg202Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693348G>A | CA10270259 | A4GALT,CYB5R3 | c.-49+27449C>T (n.-49+27449C>T) c.604C>T (p.Arg202Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693348G>C | CA411812005 | A4GALT,CYB5R3 | c.-49+27449C>G (n.-49+27449C>G) c.604C>G (p.Arg202Gly) | |
| 22 | g.42693348G= | CA2406870251 | A4GALT,CYB5R3 | c.-49+27449C= (n.-49+27449C=) c.604C= (p.Arg202=) | |
| 22 | g.42693348G>T | CA515072441 | A4GALT,CYB5R3 | c.-49+27449C>A (n.-49+27449C>A) c.604C>A (p.Arg202=) | gnomAD v4 |
| 22 | g.42693349C>A | CA515072444 | A4GALT,CYB5R3 | c.-49+27448G>T (n.-49+27448G>T) c.603G>T (p.Leu201=) | |
| 22 | g.42693349C>G | CA515072446 | A4GALT,CYB5R3 | c.-49+27448G>C (n.-49+27448G>C) c.603G>C (p.Leu201=) | |
| 22 | g.42693349C>T | CA515072447 | A4GALT,CYB5R3 | c.-49+27448G>A (n.-49+27448G>A) c.603G>A (p.Leu201=) | |
| 22 | g.42693350A>C | CA411812006 | A4GALT,CYB5R3 | c.-49+27447T>G (n.-49+27447T>G) c.602T>G (p.Leu201Arg) | |
| 22 | g.42693350A>G | CA411812007 | A4GALT,CYB5R3 | c.-49+27447T>C (n.-49+27447T>C) c.602T>C (p.Leu201Pro) | |
| 22 | g.42693350A>T | CA411812008 | A4GALT,CYB5R3 | c.-49+27447T>A (n.-49+27447T>A) c.602T>A (p.Leu201Gln) | |
| 22 | g.42693351G>A | CA515072454 | A4GALT,CYB5R3 | c.-49+27446C>T (n.-49+27446C>T) c.601C>T (p.Leu201=) | |
| 22 | g.42693351G>C | CA411812009 | A4GALT,CYB5R3 | c.-49+27446C>G (n.-49+27446C>G) c.601C>G (p.Leu201Val) | |
| 22 | g.42693351G>T | CA411812010 | A4GALT,CYB5R3 | c.-49+27446C>A (n.-49+27446C>A) c.601C>A (p.Leu201Met) | |
| 22 | g.42693352G>A | CA515072457 | A4GALT,CYB5R3 | c.-49+27445C>T (n.-49+27445C>T) c.600C>T (p.Asn200=) | gnomAD v4 |
| 22 | g.42693352G>C | CA411812012 | A4GALT,CYB5R3 | c.-49+27445C>G (n.-49+27445C>G) c.600C>G (p.Asn200Lys) | |
| 22 | g.42693352G>T | CA411812011 | A4GALT,CYB5R3 | c.-49+27445C>A (n.-49+27445C>A) c.600C>A (p.Asn200Lys) | |
| 22 | g.42693353T>A | CA411812013 | A4GALT,CYB5R3 | c.-49+27444A>T (n.-49+27444A>T) c.599A>T (p.Asn200Ile) | |
| 22 | g.42693353T>C | CA411812014 | A4GALT,CYB5R3 | c.-49+27444A>G (n.-49+27444A>G) c.599A>G (p.Asn200Ser) | |
| 22 | g.42693353T>G | CA411812015 | A4GALT,CYB5R3 | c.-49+27444A>C (n.-49+27444A>C) c.599A>C (p.Asn200Thr) | |
| 22 | g.42693354T>A | CA411812016 | A4GALT,CYB5R3 | c.-49+27443A>T (n.-49+27443A>T) c.598A>T (p.Asn200Tyr) | |
| 22 | g.42693354T>C | CA324732294 | A4GALT,CYB5R3 | c.-49+27443A>G (n.-49+27443A>G) c.598A>G (p.Asn200Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693354T>G | CA411812017 | A4GALT,CYB5R3 | c.-49+27443A>C (n.-49+27443A>C) c.598A>C (p.Asn200His) | |
| 22 | g.42693354T= | CA2406870252 | A4GALT,CYB5R3 | c.-49+27443A= (n.-49+27443A=) c.598A= (p.Asn200=) | |
| 22 | g.42693355C>A | CA411812018 | A4GALT,CYB5R3 | c.-49+27442G>T (n.-49+27442G>T) c.597G>T (p.Lys199Asn) | |
| 22 | g.42693355C>G | CA411812019 | A4GALT,CYB5R3 | c.-49+27442G>C (n.-49+27442G>C) c.597G>C (p.Lys199Asn) | |
| 22 | g.42693355C>T | CA515072469 | A4GALT,CYB5R3 | c.-49+27442G>A (n.-49+27442G>A) c.597G>A (p.Lys199=) | |
| 22 | g.42693356T>A | CA411812020 | A4GALT,CYB5R3 | c.-49+27441A>T (n.-49+27441A>T) c.596A>T (p.Lys199Met) | |
| 22 | g.42693356T>C | CA411812021 | A4GALT,CYB5R3 | c.-49+27441A>G (n.-49+27441A>G) c.596A>G (p.Lys199Arg) | gnomAD v4 |
| 22 | g.42693356T>G | CA411812022 | A4GALT,CYB5R3 | c.-49+27441A>C (n.-49+27441A>C) c.596A>C (p.Lys199Thr) | |
| 22 | g.42693357T>A | CA411812023 | A4GALT,CYB5R3 | c.-49+27440A>T (n.-49+27440A>T) c.595A>T (p.Lys199Ter) | |
| 22 | g.42693357T>C | CA10270260 | A4GALT,CYB5R3 | c.-49+27440A>G (n.-49+27440A>G) c.595A>G (p.Lys199Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693357T>G | CA411812024 | A4GALT,CYB5R3 | c.-49+27440A>C (n.-49+27440A>C) c.595A>C (p.Lys199Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693357T= | CA2406870253 | A4GALT,CYB5R3 | c.-49+27440A= (n.-49+27440A=) c.595A= (p.Lys199=) | |
| 22 | g.42693358G>A | CA515072477 | A4GALT,CYB5R3 | c.-49+27439C>T (n.-49+27439C>T) c.594C>T (p.Leu198=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693358G>C | CA515072478 | A4GALT,CYB5R3 | c.-49+27439C>G (n.-49+27439C>G) c.594C>G (p.Leu198=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693358G= | CA2406870254 | A4GALT,CYB5R3 | c.-49+27439C= (n.-49+27439C=) c.594C= (p.Leu198=) | |
| 22 | g.42693358G>T | CA515072476 | A4GALT,CYB5R3 | c.-49+27439C>A (n.-49+27439C>A) c.594C>A (p.Leu198=) | |
| 22 | g.42693359A>C | CA411812027 | A4GALT,CYB5R3 | c.-49+27438T>G (n.-49+27438T>G) c.593T>G (p.Leu198Arg) | |
| 22 | g.42693359A>G | CA411812026 | A4GALT,CYB5R3 | c.-49+27438T>C (n.-49+27438T>C) c.593T>C (p.Leu198Pro) | |
| 22 | g.42693359A>T | CA411812025 | A4GALT,CYB5R3 | c.-49+27438T>A (n.-49+27438T>A) c.593T>A (p.Leu198His) | |
| 22 | g.42693360G>A | CA10270261 | A4GALT,CYB5R3 | c.-49+27437C>T (n.-49+27437C>T) c.592C>T (p.Leu198Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693360G>C | CA411812028 | A4GALT,CYB5R3 | c.-49+27437C>G (n.-49+27437C>G) c.592C>G (p.Leu198Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693360G= | CA2406870255 | A4GALT,CYB5R3 | c.-49+27437C= (n.-49+27437C=) c.592C= (p.Leu198=) | |
| 22 | g.42693360G>T | CA411812029 | A4GALT,CYB5R3 | c.-49+27437C>A (n.-49+27437C>A) c.592C>A (p.Leu198Ile) | dbSNP |
| 22 | g.42693361A= | CA2406870256 | A4GALT,CYB5R3 | c.-49+27436T= (n.-49+27436T=) c.591T= (p.Val197=) | |
| 22 | g.42693361A>C | CA515072485 | A4GALT,CYB5R3 | c.-49+27436T>G (n.-49+27436T>G) c.591T>G (p.Val197=) | |
| 22 | g.42693361A>G | CA515072487 | A4GALT,CYB5R3 | c.-49+27436T>C (n.-49+27436T>C) c.591T>C (p.Val197=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693361A>T | CA515072489 | A4GALT,CYB5R3 | c.-49+27436T>A (n.-49+27436T>A) c.591T>A (p.Val197=) | |
| 22 | g.42693362A>C | CA411812030 | A4GALT,CYB5R3 | c.-49+27435T>G (n.-49+27435T>G) c.590T>G (p.Val197Gly) | |
| 22 | g.42693362A>G | CA411812031 | A4GALT,CYB5R3 | c.-49+27435T>C (n.-49+27435T>C) c.590T>C (p.Val197Ala) | |
| 22 | g.42693362A>T | CA411812032 | A4GALT,CYB5R3 | c.-49+27435T>A (n.-49+27435T>A) c.590T>A (p.Val197Asp) | |
| 22 | g.42693363C>A | CA411812033 | A4GALT,CYB5R3 | c.-49+27434G>T (n.-49+27434G>T) c.589G>T (p.Val197Phe) | |
| 22 | g.42693363C>G | CA411812034 | A4GALT,CYB5R3 | c.-49+27434G>C (n.-49+27434G>C) c.589G>C (p.Val197Leu) | |
| 22 | g.42693363C>T | CA411812035 | A4GALT,CYB5R3 | c.-49+27434G>A (n.-49+27434G>A) c.589G>A (p.Val197Ile) | |
| 22 | g.42693364A= | CA2406870257 | A4GALT,CYB5R3 | c.-49+27433T= (n.-49+27433T=) c.588T= (p.Ile196=) | |
| 22 | g.42693364A>C | CA411812036 | A4GALT,CYB5R3 | c.-49+27433T>G (n.-49+27433T>G) c.588T>G (p.Ile196Met) | |
| 22 | g.42693364A>G | CA324732300 | A4GALT,CYB5R3 | c.-49+27433T>C (n.-49+27433T>C) c.588T>C (p.Ile196=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693364A>T | CA515072496 | A4GALT,CYB5R3 | c.-49+27433T>A (n.-49+27433T>A) c.588T>A (p.Ile196=) | |
| 22 | g.42693365A= | CA2406870258 | A4GALT,CYB5R3 | c.-49+27432T= (n.-49+27432T=) c.587T= (p.Ile196=) | |
| 22 | g.42693365A>C | CA411812037 | A4GALT,CYB5R3 | c.-49+27432T>G (n.-49+27432T>G) c.587T>G (p.Ile196Ser) | |
| 22 | g.42693365A>G | CA411812038 | A4GALT,CYB5R3 | c.-49+27432T>C (n.-49+27432T>C) c.587T>C (p.Ile196Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693365A>T | CA411812039 | A4GALT,CYB5R3 | c.-49+27432T>A (n.-49+27432T>A) c.587T>A (p.Ile196Asn) | |
| 22 | g.42693366T>A | CA411812040 | A4GALT,CYB5R3 | c.-49+27431A>T (n.-49+27431A>T) c.586A>T (p.Ile196Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693366T>C | CA10270262 | A4GALT,CYB5R3 | c.-49+27431A>G (n.-49+27431A>G) c.586A>G (p.Ile196Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693366T>G | CA411812041 | A4GALT,CYB5R3 | c.-49+27431A>C (n.-49+27431A>C) c.586A>C (p.Ile196Leu) | |
| 22 | g.42693366T= | CA2406870259 | A4GALT,CYB5R3 | c.-49+27431A= (n.-49+27431A=) c.586A= (p.Ile196=) | |
| 22 | g.42693367G>A | CA515072505 | A4GALT,CYB5R3 | c.-49+27430C>T (n.-49+27430C>T) c.585C>T (p.Phe195=) | |
| 22 | g.42693367G>C | CA10270263 | A4GALT,CYB5R3 | c.-49+27430C>G (n.-49+27430C>G) c.585C>G (p.Phe195Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693367G= | CA2406870260 | A4GALT,CYB5R3 | c.-49+27430C= (n.-49+27430C=) c.585C= (p.Phe195=) | |
| 22 | g.42693367G>T | CA411812042 | A4GALT,CYB5R3 | c.-49+27430C>A (n.-49+27430C>A) c.585C>A (p.Phe195Leu) | gnomAD v4 |
| 22 | g.42693368A>C | CA411812043 | A4GALT,CYB5R3 | c.-49+27429T>G (n.-49+27429T>G) c.584T>G (p.Phe195Cys) | |
| 22 | g.42693368A>G | CA411812044 | A4GALT,CYB5R3 | c.-49+27429T>C (n.-49+27429T>C) c.584T>C (p.Phe195Ser) | |
| 22 | g.42693368A>T | CA411812045 | A4GALT,CYB5R3 | c.-49+27429T>A (n.-49+27429T>A) c.584T>A (p.Phe195Tyr) | |
| 22 | g.42693369A>C | CA411812046 | A4GALT,CYB5R3 | c.-49+27428T>G (n.-49+27428T>G) c.583T>G (p.Phe195Val) | |
| 22 | g.42693369A>G | CA411812047 | A4GALT,CYB5R3 | c.-49+27428T>C (n.-49+27428T>C) c.583T>C (p.Phe195Leu) | gnomAD v4 |
| 22 | g.42693369A>T | CA411812048 | A4GALT,CYB5R3 | c.-49+27428T>A (n.-49+27428T>A) c.583T>A (p.Phe195Ile) | |
| 22 | g.42693370G>A | CA515072513 | A4GALT,CYB5R3 | c.-49+27427C>T (n.-49+27427C>T) c.582C>T (p.Asp194=) | |
| 22 | g.42693370G>C | CA411812050 | A4GALT,CYB5R3 | c.-49+27427C>G (n.-49+27427C>G) c.582C>G (p.Asp194Glu) | gnomAD v4 |
| 22 | g.42693370G>T | CA411812049 | A4GALT,CYB5R3 | c.-49+27427C>A (n.-49+27427C>A) c.582C>A (p.Asp194Glu) | |
| 22 | g.42693371T>A | CA411812051 | A4GALT,CYB5R3 | c.-49+27426A>T (n.-49+27426A>T) c.581A>T (p.Asp194Val) | |
| 22 | g.42693371T>C | CA411812052 | A4GALT,CYB5R3 | c.-49+27426A>G (n.-49+27426A>G) c.581A>G (p.Asp194Gly) | |
| 22 | g.42693371T>G | CA411812053 | A4GALT,CYB5R3 | c.-49+27426A>C (n.-49+27426A>C) c.581A>C (p.Asp194Ala) | |
| 22 | g.42693372C>A | CA411812054 | A4GALT,CYB5R3 | c.-49+27425G>T (n.-49+27425G>T) c.580G>T (p.Asp194Tyr) | |
| 22 | g.42693372C>G | CA411812055 | A4GALT,CYB5R3 | c.-49+27425G>C (n.-49+27425G>C) c.580G>C (p.Asp194His) | |
| 22 | g.42693372C>T | CA411812056 | A4GALT,CYB5R3 | c.-49+27425G>A (n.-49+27425G>A) c.580G>A (p.Asp194Asn) | COSMIC |
| 22 | g.42693373C>A | CA515072523 | A4GALT,CYB5R3 | c.-49+27424G>T (n.-49+27424G>T) c.579G>T (p.Thr193=) | dbSNP |
| 22 | g.42693373C= | CA2406870261 | A4GALT,CYB5R3 | c.-49+27424G= (n.-49+27424G=) c.579G= (p.Thr193=) | |
| 22 | g.42693373C>G | CA515072525 | A4GALT,CYB5R3 | c.-49+27424G>C (n.-49+27424G>C) c.579G>C (p.Thr193=) | |
| 22 | g.42693373C>T | CA515072528 | A4GALT,CYB5R3 | c.-49+27424G>A (n.-49+27424G>A) c.579G>A (p.Thr193=) | gnomAD v4 |
| 22 | g.42693374G>A | CA10270264 | A4GALT,CYB5R3 | c.-49+27423C>T (n.-49+27423C>T) c.578C>T (p.Thr193Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693374G>C | CA411812058 | A4GALT,CYB5R3 | c.-49+27423C>G (n.-49+27423C>G) c.578C>G (p.Thr193Arg) | gnomAD v4 |
| 22 | g.42693374G= | CA2406870262 | A4GALT,CYB5R3 | c.-49+27423C= (n.-49+27423C=) c.578C= (p.Thr193=) | |
| 22 | g.42693374G>T | CA411812057 | A4GALT,CYB5R3 | c.-49+27423C>A (n.-49+27423C>A) c.578C>A (p.Thr193Lys) | |
| 22 | g.42693375T>A | CA411812059 | A4GALT,CYB5R3 | c.-49+27422A>T (n.-49+27422A>T) c.577A>T (p.Thr193Ser) | |
| 22 | g.42693375T>C | CA411812060 | A4GALT,CYB5R3 | c.-49+27422A>G (n.-49+27422A>G) c.577A>G (p.Thr193Ala) | gnomAD v4 |
| 22 | g.42693375T>G | CA411812061 | A4GALT,CYB5R3 | c.-49+27422A>C (n.-49+27422A>C) c.577A>C (p.Thr193Pro) | |
| 22 | g.42693376G>A | CA515072536 | A4GALT,CYB5R3 | c.-49+27421C>T (n.-49+27421C>T) c.576C>T (p.Asp192=) | |
| 22 | g.42693376G>C | CA411812062 | A4GALT,CYB5R3 | c.-49+27421C>G (n.-49+27421C>G) c.576C>G (p.Asp192Glu) | |
| 22 | g.42693376G>T | CA411812063 | A4GALT,CYB5R3 | c.-49+27421C>A (n.-49+27421C>A) c.576C>A (p.Asp192Glu) | |
| 22 | g.42693376dup | CA2577739308 | A4GALT,CYB5R3 | c.-49+27421dup (n.-49+27421dup) c.576dup (p.Thr193HisfsTer?) | gnomAD v4 |
| 22 | g.42693377T>A | CA411812064 | A4GALT,CYB5R3 | c.-49+27420A>T (n.-49+27420A>T) c.575A>T (p.Asp192Val) | |
| 22 | g.42693377T>C | CA411812065 | A4GALT,CYB5R3 | c.-49+27420A>G (n.-49+27420A>G) c.575A>G (p.Asp192Gly) | |
| 22 | g.42693377T>G | CA411812066 | A4GALT,CYB5R3 | c.-49+27420A>C (n.-49+27420A>C) c.575A>C (p.Asp192Ala) | |
| 22 | g.42693378C>A | CA411812067 | A4GALT,CYB5R3 | c.-49+27419G>T (n.-49+27419G>T) c.574G>T (p.Asp192Tyr) | |
| 22 | g.42693378C>G | CA411812068 | A4GALT,CYB5R3 | c.-49+27419G>C (n.-49+27419G>C) c.574G>C (p.Asp192His) | gnomAD v4 |
| 22 | g.42693378C>T | CA411812069 | A4GALT,CYB5R3 | c.-49+27419G>A (n.-49+27419G>A) c.574G>A (p.Asp192Asn) | gnomAD v4 |
| 22 | g.42693379C>A | CA515072551 | A4GALT,CYB5R3 | c.-49+27418G>T (n.-49+27418G>T) c.573G>T (p.Leu191=) | |
| 22 | g.42693379C>G | CA515072549 | A4GALT,CYB5R3 | c.-49+27418G>C (n.-49+27418G>C) c.573G>C (p.Leu191=) | |
| 22 | g.42693379C>T | CA515072546 | A4GALT,CYB5R3 | c.-49+27418G>A (n.-49+27418G>A) c.573G>A (p.Leu191=) | |
| 22 | g.42693380A= | CA2406870263 | A4GALT,CYB5R3 | c.-49+27417T= (n.-49+27417T=) c.572T= (p.Leu191=) | |
| 22 | g.42693380A>C | CA411812070 | A4GALT,CYB5R3 | c.-49+27417T>G (n.-49+27417T>G) c.572T>G (p.Leu191Arg) | |
| 22 | g.42693380A>G | CA411812071 | A4GALT,CYB5R3 | c.-49+27417T>C (n.-49+27417T>C) c.572T>C (p.Leu191Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693380A>T | CA411812072 | A4GALT,CYB5R3 | c.-49+27417T>A (n.-49+27417T>A) c.572T>A (p.Leu191Gln) | |
| 22 | g.42693381G>A | CA515072556 | A4GALT,CYB5R3 | c.-49+27416C>T (n.-49+27416C>T) c.571C>T (p.Leu191=) | gnomAD v4 |
| 22 | g.42693381G>C | CA411812073 | A4GALT,CYB5R3 | c.-49+27416C>G (n.-49+27416C>G) c.571C>G (p.Leu191Val) | |
| 22 | g.42693381G>T | CA411812074 | A4GALT,CYB5R3 | c.-49+27416C>A (n.-49+27416C>A) c.571C>A (p.Leu191Met) | |
| 22 | g.42693382G>A | CA515072562 | A4GALT,CYB5R3 | c.-49+27415C>T (n.-49+27415C>T) c.570C>T (p.Tyr190=) | |
| 22 | g.42693382G>C | CA411812075 | A4GALT,CYB5R3 | c.-49+27415C>G (n.-49+27415C>G) c.570C>G (p.Tyr190Ter) | |
| 22 | g.42693382G>T | CA411812076 | A4GALT,CYB5R3 | c.-49+27415C>A (n.-49+27415C>A) c.570C>A (p.Tyr190Ter) | |
| 22 | g.42693383T>A | CA411812077 | A4GALT,CYB5R3 | c.-49+27414A>T (n.-49+27414A>T) c.569A>T (p.Tyr190Phe) | |
| 22 | g.42693383T>C | CA411812078 | A4GALT,CYB5R3 | c.-49+27414A>G (n.-49+27414A>G) c.569A>G (p.Tyr190Cys) | gnomAD v4 |
| 22 | g.42693383T>G | CA411812079 | A4GALT,CYB5R3 | c.-49+27414A>C (n.-49+27414A>C) c.569A>C (p.Tyr190Ser) | dbSNP |
| 22 | g.42693383T= | CA2406870264 | A4GALT,CYB5R3 | c.-49+27414A= (n.-49+27414A=) c.569A= (p.Tyr190=) | |
| 22 | g.42693384A= | CA2406870265 | A4GALT,CYB5R3 | c.-49+27413T= (n.-49+27413T=) c.568T= (p.Tyr190=) | |
| 22 | g.42693384A>C | CA411812080 | A4GALT,CYB5R3 | c.-49+27413T>G (n.-49+27413T>G) c.568T>G (p.Tyr190Asp) | |
| 22 | g.42693384A>G | CA411812081 | A4GALT,CYB5R3 | c.-49+27413T>C (n.-49+27413T>C) c.568T>C (p.Tyr190His) | gnomAD v4 |
| 22 | g.42693384A>T | CA324732307 | A4GALT,CYB5R3 | c.-49+27413T>A (n.-49+27413T>A) c.568T>A (p.Tyr190Asn) | dbSNP |
| 22 | g.42693384dup | CA2657079475 | A4GALT,CYB5R3 | c.-49+27413dup (n.-49+27413dup) c.568dup (p.Tyr190LeufsTer?) | gnomAD v4 |
| 22 | g.42693385G>A | CA515072572 | A4GALT,CYB5R3 | c.-49+27412C>T (n.-49+27412C>T) c.567C>T (p.Ile189=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693385G>C | CA411812082 | A4GALT,CYB5R3 | c.-49+27412C>G (n.-49+27412C>G) c.567C>G (p.Ile189Met) | |
| 22 | g.42693385G= | CA2406870266 | A4GALT,CYB5R3 | c.-49+27412C= (n.-49+27412C=) c.567C= (p.Ile189=) | |
| 22 | g.42693385G>T | CA515072571 | A4GALT,CYB5R3 | c.-49+27412C>A (n.-49+27412C>A) c.567C>A (p.Ile189=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693386A>C | CA411812083 | A4GALT,CYB5R3 | c.-49+27411T>G (n.-49+27411T>G) c.566T>G (p.Ile189Ser) | |
| 22 | g.42693386A>G | CA411812084 | A4GALT,CYB5R3 | c.-49+27411T>C (n.-49+27411T>C) c.566T>C (p.Ile189Thr) | |
| 22 | g.42693386A>T | CA411812085 | A4GALT,CYB5R3 | c.-49+27411T>A (n.-49+27411T>A) c.566T>A (p.Ile189Asn) | gnomAD v4 |
| 22 | g.42693387T>A | CA411812086 | A4GALT,CYB5R3 | c.-49+27410A>T (n.-49+27410A>T) c.565A>T (p.Ile189Phe) | |
| 22 | g.42693387T>C | CA411812088 | A4GALT,CYB5R3 | c.-49+27410A>G (n.-49+27410A>G) c.565A>G (p.Ile189Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693387T>G | CA411812087 | A4GALT,CYB5R3 | c.-49+27410A>C (n.-49+27410A>C) c.565A>C (p.Ile189Leu) | |
| 22 | g.42693387T= | CA2406870267 | A4GALT,CYB5R3 | c.-49+27410A= (n.-49+27410A=) c.565A= (p.Ile189=) | |
| 22 | g.42693388G>A | CA515072587 | A4GALT,CYB5R3 | c.-49+27409C>T (n.-49+27409C>T) c.564C>T (p.Gly188=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693388G>C | CA515072588 | A4GALT,CYB5R3 | c.-49+27409C>G (n.-49+27409C>G) c.564C>G (p.Gly188=) | |
| 22 | g.42693388G= | CA2406870268 | A4GALT,CYB5R3 | c.-49+27409C= (n.-49+27409C=) c.564C= (p.Gly188=) | |
| 22 | g.42693388G>T | CA515072590 | A4GALT,CYB5R3 | c.-49+27409C>A (n.-49+27409C>A) c.564C>A (p.Gly188=) | |
| 22 | g.42693389C>A | CA411812089 | A4GALT,CYB5R3 | c.-49+27408G>T (n.-49+27408G>T) c.563G>T (p.Gly188Val) | gnomAD v4 |
| 22 | g.42693389C= | CA2406870269 | A4GALT,CYB5R3 | c.-49+27408G= (n.-49+27408G=) c.563G= (p.Gly188=) | |
| 22 | g.42693389C>G | CA411812090 | A4GALT,CYB5R3 | c.-49+27408G>C (n.-49+27408G>C) c.563G>C (p.Gly188Ala) | |
| 22 | g.42693389C>T | CA10270265 | A4GALT,CYB5R3 | c.-49+27408G>A (n.-49+27408G>A) c.563G>A (p.Gly188Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693390C>A | CA411812091 | A4GALT,CYB5R3 | c.-49+27407G>T (n.-49+27407G>T) c.562G>T (p.Gly188Cys) | |
| 22 | g.42693390C= | CA2406870270 | A4GALT,CYB5R3 | c.-49+27407G= (n.-49+27407G=) c.562G= (p.Gly188=) | |
| 22 | g.42693390C>G | CA411812092 | A4GALT,CYB5R3 | c.-49+27407G>C (n.-49+27407G>C) c.562G>C (p.Gly188Arg) | |
| 22 | g.42693390C>T | CA10270266 | A4GALT,CYB5R3 | c.-49+27407G>A (n.-49+27407G>A) c.562G>A (p.Gly188Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693391G>A | CA515072601 | A4GALT,CYB5R3 | c.-49+27406C>T (n.-49+27406C>T) c.561C>T (p.Gly187=) | gnomAD v4 |
| 22 | g.42693391G>C | CA515072603 | A4GALT,CYB5R3 | c.-49+27406C>G (n.-49+27406C>G) c.561C>G (p.Gly187=) | |
| 22 | g.42693391G>T | CA515072605 | A4GALT,CYB5R3 | c.-49+27406C>A (n.-49+27406C>A) c.561C>A (p.Gly187=) | gnomAD v4 |
| 22 | g.42693392C>A | CA411812094 | A4GALT,CYB5R3 | c.-49+27405G>T (n.-49+27405G>T) c.560G>T (p.Gly187Val) | |
| 22 | g.42693392C= | CA2406870271 | A4GALT,CYB5R3 | c.-49+27405G= (n.-49+27405G=) c.560G= (p.Gly187=) | |
| 22 | g.42693392C>G | CA411812093 | A4GALT,CYB5R3 | c.-49+27405G>C (n.-49+27405G>C) c.560G>C (p.Gly187Ala) | |
| 22 | g.42693392C>T | CA115689 | A4GALT,CYB5R3 | c.-49+27405G>A (n.-49+27405G>A) c.560G>A (p.Gly187Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693393C>A | CA411812095 | A4GALT,CYB5R3 | c.-49+27404G>T (n.-49+27404G>T) c.559G>T (p.Gly187Cys) | dbSNP gnomAD v2 |
| 22 | g.42693393C= | CA2406870272 | A4GALT,CYB5R3 | c.-49+27404G= (n.-49+27404G=) c.559G= (p.Gly187=) | |
| 22 | g.42693393C>G | CA411812096 | A4GALT,CYB5R3 | c.-49+27404G>C (n.-49+27404G>C) c.559G>C (p.Gly187Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693393C>T | CA10270267 | A4GALT,CYB5R3 | c.-49+27404G>A (n.-49+27404G>A) c.559G>A (p.Gly187Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |