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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693486_42693525del | CA2657078501 | A4GALT,CYB5R3 | c.-49+27275_-49+27314del (n.-49+27275_-49+27314del) c.430_469del (p.Leu144ThrfsTer?) | gnomAD v4 |
| 22 | g.42693503A>C | CA411812321 | A4GALT,CYB5R3 | c.-49+27294T>G (n.-49+27294T>G) c.449T>G (p.Phe150Cys) | |
| 22 | g.42693503A>G | CA411812322 | A4GALT,CYB5R3 | c.-49+27294T>C (n.-49+27294T>C) c.449T>C (p.Phe150Ser) | |
| 22 | g.42693503A>T | CA411812323 | A4GALT,CYB5R3 | c.-49+27294T>A (n.-49+27294T>A) c.449T>A (p.Phe150Tyr) | |
| 22 | g.42693504A= | CA2406870340 | A4GALT,CYB5R3 | c.-49+27293T= (n.-49+27293T=) c.448T= (p.Phe150=) | |
| 22 | g.42693504A>C | CA411812324 | A4GALT,CYB5R3 | c.-49+27293T>G (n.-49+27293T>G) c.448T>G (p.Phe150Val) | |
| 22 | g.42693504A>G | CA411812325 | A4GALT,CYB5R3 | c.-49+27293T>C (n.-49+27293T>C) c.448T>C (p.Phe150Leu) | dbSNP |
| 22 | g.42693504A>T | CA411812326 | A4GALT,CYB5R3 | c.-49+27293T>A (n.-49+27293T>A) c.448T>A (p.Phe150Ile) | |
| 22 | g.42693505C>A | CA515070987 | A4GALT,CYB5R3 | c.-49+27292G>T (n.-49+27292G>T) c.447G>T (p.Leu149=) | gnomAD v4 |
| 22 | g.42693505C>G | CA515070988 | A4GALT,CYB5R3 | c.-49+27292G>C (n.-49+27292G>C) c.447G>C (p.Leu149=) | gnomAD v4 |
| 22 | g.42693505C>T | CA515070991 | A4GALT,CYB5R3 | c.-49+27292G>A (n.-49+27292G>A) c.447G>A (p.Leu149=) | |
| 22 | g.42693506A>C | CA411812327 | A4GALT,CYB5R3 | c.-49+27291T>G (n.-49+27291T>G) c.446T>G (p.Leu149Arg) | |
| 22 | g.42693506A>G | CA411812328 | A4GALT,CYB5R3 | c.-49+27291T>C (n.-49+27291T>C) c.446T>C (p.Leu149Pro) | |
| 22 | g.42693506A>T | CA411812329 | A4GALT,CYB5R3 | c.-49+27291T>A (n.-49+27291T>A) c.446T>A (p.Leu149Gln) | |
| 22 | g.42693507G>A | CA515070998 | A4GALT,CYB5R3 | c.-49+27290C>T (n.-49+27290C>T) c.445C>T (p.Leu149=) | COSMIC |
| 22 | g.42693507G>C | CA411812330 | A4GALT,CYB5R3 | c.-49+27290C>G (n.-49+27290C>G) c.445C>G (p.Leu149Val) | |
| 22 | g.42693507G>T | CA411812331 | A4GALT,CYB5R3 | c.-49+27290C>A (n.-49+27290C>A) c.445C>A (p.Leu149Met) | |
| 22 | g.42693508C>A | CA411812332 | A4GALT,CYB5R3 | c.-49+27289G>T (n.-49+27289G>T) c.444G>T (p.Glu148Asp) | |
| 22 | g.42693508C= | CA2406870341 | A4GALT,CYB5R3 | c.-49+27289G= (n.-49+27289G=) c.444G= (p.Glu148=) | |
| 22 | g.42693508C>G | CA411812333 | A4GALT,CYB5R3 | c.-49+27289G>C (n.-49+27289G>C) c.444G>C (p.Glu148Asp) | |
| 22 | g.42693508C>T | CA10270300 | A4GALT,CYB5R3 | c.-49+27289G>A (n.-49+27289G>A) c.444G>A (p.Glu148=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693509T>A | CA411812334 | A4GALT,CYB5R3 | c.-49+27288A>T (n.-49+27288A>T) c.443A>T (p.Glu148Val) | |
| 22 | g.42693509T>C | CA411812335 | A4GALT,CYB5R3 | c.-49+27288A>G (n.-49+27288A>G) c.443A>G (p.Glu148Gly) | |
| 22 | g.42693509T>G | CA411812336 | A4GALT,CYB5R3 | c.-49+27288A>C (n.-49+27288A>C) c.443A>C (p.Glu148Ala) | COSMIC |
| 22 | g.42693509_42693515del | CA2657078551 | A4GALT,CYB5R3 | c.-49+27282_-49+27288del (n.-49+27282_-49+27288del) c.437_443del (p.Leu146ArgfsTer?) | gnomAD v4 |
| 22 | g.42693510C>A | CA411812337 | A4GALT,CYB5R3 | c.-49+27287G>T (n.-49+27287G>T) c.442G>T (p.Glu148Ter) | |
| 22 | g.42693510C>G | CA411812338 | A4GALT,CYB5R3 | c.-49+27287G>C (n.-49+27287G>C) c.442G>C (p.Glu148Gln) | |
| 22 | g.42693510C>T | CA411812339 | A4GALT,CYB5R3 | c.-49+27287G>A (n.-49+27287G>A) c.442G>A (p.Glu148Lys) | gnomAD v4 |
| 22 | g.42693511C>A | CA515071012 | A4GALT,CYB5R3 | c.-49+27286G>T (n.-49+27286G>T) c.441G>T (p.Arg147=) | |
| 22 | g.42693511C= | CA2406870342 | A4GALT,CYB5R3 | c.-49+27286G= (n.-49+27286G=) c.441G= (p.Arg147=) | |
| 22 | g.42693511C>G | CA515071013 | A4GALT,CYB5R3 | c.-49+27286G>C (n.-49+27286G>C) c.441G>C (p.Arg147=) | |
| 22 | g.42693511C>T | CA10270301 | A4GALT,CYB5R3 | c.-49+27286G>A (n.-49+27286G>A) c.441G>A (p.Arg147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693512C>A | CA411812340 | A4GALT,CYB5R3 | c.-49+27285G>T (n.-49+27285G>T) c.440G>T (p.Arg147Leu) | |
| 22 | g.42693512C= | CA2406870343 | A4GALT,CYB5R3 | c.-49+27285G= (n.-49+27285G=) c.440G= (p.Arg147=) | |
| 22 | g.42693512C>G | CA411812341 | A4GALT,CYB5R3 | c.-49+27285G>C (n.-49+27285G>C) c.440G>C (p.Arg147Pro) | |
| 22 | g.42693512C>T | CA10270302 | A4GALT,CYB5R3 | c.-49+27285G>A (n.-49+27285G>A) c.440G>A (p.Arg147Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693513G>A | CA10270303 | A4GALT,CYB5R3 | c.-49+27284C>T (n.-49+27284C>T) c.439C>T (p.Arg147Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693513G>C | CA411812342 | A4GALT,CYB5R3 | c.-49+27284C>G (n.-49+27284C>G) c.439C>G (p.Arg147Gly) | |
| 22 | g.42693513G= | CA2406870344 | A4GALT,CYB5R3 | c.-49+27284C= (n.-49+27284C=) c.439C= (p.Arg147=) | |
| 22 | g.42693513G>T | CA10270304 | A4GALT,CYB5R3 | c.-49+27284C>A (n.-49+27284C>A) c.439C>A (p.Arg147=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693516_42693530del | CA2657078617 | A4GALT,CYB5R3 | c.-49+27270_-49+27284del (n.-49+27270_-49+27284del) c.425_439del (p.Leu142_Leu146del) | gnomAD v4 |
| 22 | g.42693514C>A | CA515071026 | A4GALT,CYB5R3 | c.-49+27283G>T (n.-49+27283G>T) c.438G>T (p.Leu146=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693514C= | CA2406870345 | A4GALT,CYB5R3 | c.-49+27283G= (n.-49+27283G=) c.438G= (p.Leu146=) | |
| 22 | g.42693514C>G | CA515071029 | A4GALT,CYB5R3 | c.-49+27283G>C (n.-49+27283G>C) c.438G>C (p.Leu146=) | dbSNP |
| 22 | g.42693514C>T | CA515071036 | A4GALT,CYB5R3 | c.-49+27283G>A (n.-49+27283G>A) c.438G>A (p.Leu146=) | |
| 22 | g.42693515A>C | CA411812343 | A4GALT,CYB5R3 | c.-49+27282T>G (n.-49+27282T>G) c.437T>G (p.Leu146Arg) | |
| 22 | g.42693515A>G | CA411812344 | A4GALT,CYB5R3 | c.-49+27282T>C (n.-49+27282T>C) c.437T>C (p.Leu146Pro) | |
| 22 | g.42693515A>T | CA411812345 | A4GALT,CYB5R3 | c.-49+27282T>A (n.-49+27282T>A) c.437T>A (p.Leu146Gln) | |
| 22 | g.42693516G>A | CA10270306 | A4GALT,CYB5R3 | c.-49+27281C>T (n.-49+27281C>T) c.436C>T (p.Leu146=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693516G>C | CA10270305 | A4GALT,CYB5R3 | c.-49+27281C>G (n.-49+27281C>G) c.436C>G (p.Leu146Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693516G= | CA2406870346 | A4GALT,CYB5R3 | c.-49+27281C= (n.-49+27281C=) c.436C= (p.Leu146=) | |
| 22 | g.42693516G>T | CA411812346 | A4GALT,CYB5R3 | c.-49+27281C>A (n.-49+27281C>A) c.436C>A (p.Leu146Met) | |
| 22 | g.42693517G>A | CA10270307 | A4GALT,CYB5R3 | c.-49+27280C>T (n.-49+27280C>T) c.435C>T (p.Asp145=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693517G>C | CA10270308 | A4GALT,CYB5R3 | c.-49+27280C>G (n.-49+27280C>G) c.435C>G (p.Asp145Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693517G= | CA2406870347 | A4GALT,CYB5R3 | c.-49+27280C= (n.-49+27280C=) c.435C= (p.Asp145=) | |
| 22 | g.42693517G>T | CA411812347 | A4GALT,CYB5R3 | c.-49+27280C>A (n.-49+27280C>A) c.435C>A (p.Asp145Glu) | dbSNP gnomAD v4 |
| 22 | g.42693518T>A | CA411812348 | A4GALT,CYB5R3 | c.-49+27279A>T (n.-49+27279A>T) c.434A>T (p.Asp145Val) | |
| 22 | g.42693518T>C | CA411812349 | A4GALT,CYB5R3 | c.-49+27279A>G (n.-49+27279A>G) c.434A>G (p.Asp145Gly) | gnomAD v4 |
| 22 | g.42693518T>G | CA411812350 | A4GALT,CYB5R3 | c.-49+27279A>C (n.-49+27279A>C) c.434A>C (p.Asp145Ala) | |
| 22 | g.42693518_42693527del | CA2657078650 | A4GALT,CYB5R3 | c.-49+27270_-49+27279del (n.-49+27270_-49+27279del) c.425_434del (p.Leu142ProfsTer?) | gnomAD v4 |
| 22 | g.42693519C>A | CA411812352 | A4GALT,CYB5R3 | c.-49+27278G>T (n.-49+27278G>T) c.433G>T (p.Asp145Tyr) | |
| 22 | g.42693519C= | CA2406870348 | A4GALT,CYB5R3 | c.-49+27278G= (n.-49+27278G=) c.433G= (p.Asp145=) | |
| 22 | g.42693519C>G | CA411812353 | A4GALT,CYB5R3 | c.-49+27278G>C (n.-49+27278G>C) c.433G>C (p.Asp145His) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693519C>T | CA411812351 | A4GALT,CYB5R3 | c.-49+27278G>A (n.-49+27278G>A) c.433G>A (p.Asp145Asn) | |
| 22 | g.42693520C>A | CA515071066 | A4GALT,CYB5R3 | c.-49+27277G>T (n.-49+27277G>T) c.432G>T (p.Leu144=) | |
| 22 | g.42693520C= | CA2406870349 | A4GALT,CYB5R3 | c.-49+27277G= (n.-49+27277G=) c.432G= (p.Leu144=) | |
| 22 | g.42693520C>G | CA515071068 | A4GALT,CYB5R3 | c.-49+27277G>C (n.-49+27277G>C) c.432G>C (p.Leu144=) | dbSNP |
| 22 | g.42693520C>T | CA10270309 | A4GALT,CYB5R3 | c.-49+27277G>A (n.-49+27277G>A) c.432G>A (p.Leu144=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693521A>C | CA411812354 | A4GALT,CYB5R3 | c.-49+27276T>G (n.-49+27276T>G) c.431T>G (p.Leu144Arg) | |
| 22 | g.42693521A>G | CA411812356 | A4GALT,CYB5R3 | c.-49+27276T>C (n.-49+27276T>C) c.431T>C (p.Leu144Pro) | |
| 22 | g.42693521A>T | CA411812355 | A4GALT,CYB5R3 | c.-49+27276T>A (n.-49+27276T>A) c.431T>A (p.Leu144Gln) | |
| 22 | g.42693522G>A | CA10270310 | A4GALT,CYB5R3 | c.-49+27275C>T (n.-49+27275C>T) c.430C>T (p.Leu144=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693522G>C | CA411812358 | A4GALT,CYB5R3 | c.-49+27275C>G (n.-49+27275C>G) c.430C>G (p.Leu144Val) | |
| 22 | g.42693522G= | CA2406870350 | A4GALT,CYB5R3 | c.-49+27275C= (n.-49+27275C=) c.430C= (p.Leu144=) | |
| 22 | g.42693522G>T | CA411812357 | A4GALT,CYB5R3 | c.-49+27275C>A (n.-49+27275C>A) c.430C>A (p.Leu144Met) | |
| 22 | g.42693523C>A | CA515071089 | A4GALT,CYB5R3 | c.-49+27274G>T (n.-49+27274G>T) c.429G>T (p.Pro143=) | |
| 22 | g.42693523C= | CA2406870351 | A4GALT,CYB5R3 | c.-49+27274G= (n.-49+27274G=) c.429G= (p.Pro143=) | |
| 22 | g.42693523C>G | CA515071091 | A4GALT,CYB5R3 | c.-49+27274G>C (n.-49+27274G>C) c.429G>C (p.Pro143=) | |
| 22 | g.42693523C>T | CA515071094 | A4GALT,CYB5R3 | c.-49+27274G>A (n.-49+27274G>A) c.429G>A (p.Pro143=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693523_42693524insT | CA639829276 | A4GALT,CYB5R3 | c.-49+27273_-49+27274insA (n.-49+27273_-49+27274insA) c.428_429insA (p.Leu144AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693524G>A | CA10270311 | A4GALT,CYB5R3 | c.-49+27273C>T (n.-49+27273C>T) c.428C>T (p.Pro143Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693524G>C | CA411812360 | A4GALT,CYB5R3 | c.-49+27273C>G (n.-49+27273C>G) c.428C>G (p.Pro143Arg) | |
| 22 | g.42693524G= | CA2406870352 | A4GALT,CYB5R3 | c.-49+27273C= (n.-49+27273C=) c.428C= (p.Pro143=) | |
| 22 | g.42693524G>T | CA411812359 | A4GALT,CYB5R3 | c.-49+27273C>A (n.-49+27273C>A) c.428C>A (p.Pro143Gln) | COSMIC |
| 22 | g.42693524_42693525insTTCCAGCA | CA639829277 | A4GALT,CYB5R3 | c.-49+27272_-49+27273insTGCTGGAA (n.-49+27272_-49+27273insTGCTGGAA) c.427_428insTGCTGGAA (p.Pro143LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693525G>A | CA411812361 | A4GALT,CYB5R3 | c.-49+27272C>T (n.-49+27272C>T) c.427C>T (p.Pro143Ser) | |
| 22 | g.42693525G>C | CA411812362 | A4GALT,CYB5R3 | c.-49+27272C>G (n.-49+27272C>G) c.427C>G (p.Pro143Ala) | |
| 22 | g.42693525G>T | CA411812363 | A4GALT,CYB5R3 | c.-49+27272C>A (n.-49+27272C>A) c.427C>A (p.Pro143Thr) | |
| 22 | g.42693526G>A | CA515071105 | A4GALT,CYB5R3 | c.-49+27271C>T (n.-49+27271C>T) c.426C>T (p.Leu142=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693526G>C | CA515071106 | A4GALT,CYB5R3 | c.-49+27271C>G (n.-49+27271C>G) c.426C>G (p.Leu142=) | |
| 22 | g.42693526G= | CA2406870353 | A4GALT,CYB5R3 | c.-49+27271C= (n.-49+27271C=) c.426C= (p.Leu142=) | |
| 22 | g.42693526G>T | CA515071108 | A4GALT,CYB5R3 | c.-49+27271C>A (n.-49+27271C>A) c.426C>A (p.Leu142=) | |
| 22 | g.42693526_42693527insTCC | CA639829278 | A4GALT,CYB5R3 | c.-49+27270_-49+27271insGGA (n.-49+27270_-49+27271insGGA) c.425_426insGGA (p.Leu142_Pro143insAsp) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693527A>C | CA411812364 | A4GALT,CYB5R3 | c.-49+27270T>G (n.-49+27270T>G) c.425T>G (p.Leu142Arg) | |
| 22 | g.42693527A>G | CA411812365 | A4GALT,CYB5R3 | c.-49+27270T>C (n.-49+27270T>C) c.425T>C (p.Leu142Pro) | dbSNP |
| 22 | g.42693527A>T | CA411812366 | A4GALT,CYB5R3 | c.-49+27270T>A (n.-49+27270T>A) c.425T>A (p.Leu142His) | |
| 22 | g.42693528G>A | CA411812367 | A4GALT,CYB5R3 | c.-49+27269C>T (n.-49+27269C>T) c.424C>T (p.Leu142Phe) | gnomAD v4 |
| 22 | g.42693528G>C | CA411812368 | A4GALT,CYB5R3 | c.-49+27269C>G (n.-49+27269C>G) c.424C>G (p.Leu142Val) | |
| 22 | g.42693528G>T | CA411812369 | A4GALT,CYB5R3 | c.-49+27269C>A (n.-49+27269C>A) c.424C>A (p.Leu142Ile) | |
| 22 | g.42693529C>A | CA411812370 | A4GALT,CYB5R3 | c.-49+27268G>T (n.-49+27268G>T) c.423G>T (p.Met141Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693529C= | CA2406870354 | A4GALT,CYB5R3 | c.-49+27268G= (n.-49+27268G=) c.423G= (p.Met141=) | |
| 22 | g.42693529C>G | CA411812371 | A4GALT,CYB5R3 | c.-49+27268G>C (n.-49+27268G>C) c.423G>C (p.Met141Ile) | |
| 22 | g.42693529C>T | CA411812372 | A4GALT,CYB5R3 | c.-49+27268G>A (n.-49+27268G>A) c.423G>A (p.Met141Ile) | dbSNP |
| 22 | g.42693529dup | CA2657078691 | A4GALT,CYB5R3 | c.-49+27268dup (n.-49+27268dup) c.423dup (p.Leu142AlafsTer?) | gnomAD v4 |
| 22 | g.42693530del | CA2577739311 | A4GALT,CYB5R3 | c.-49+27267del (n.-49+27267del) c.422del (p.Met141SerfsTer?) | |
| 22 | g.42693530A= | CA2406870355 | A4GALT,CYB5R3 | c.-49+27267T= (n.-49+27267T=) c.422T= (p.Met141=) | |
| 22 | g.42693530A>C | CA411812373 | A4GALT,CYB5R3 | c.-49+27267T>G (n.-49+27267T>G) c.422T>G (p.Met141Arg) | |
| 22 | g.42693530A>G | CA411812374 | A4GALT,CYB5R3 | c.-49+27267T>C (n.-49+27267T>C) c.422T>C (p.Met141Thr) | |
| 22 | g.42693530A>T | CA324732383 | A4GALT,CYB5R3 | c.-49+27267T>A (n.-49+27267T>A) c.422T>A (p.Met141Lys) | dbSNP gnomAD v4 |
| 22 | g.42693530_42693531insGGTCCAGCAGG | CA639829279 | A4GALT,CYB5R3 | c.-49+27266_-49+27267insCCTGCTGGACC (n.-49+27266_-49+27267insCCTGCTGGACC) c.421_422insCCTGCTGGACC (p.Met141ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693531T>A | CA411812375 | A4GALT,CYB5R3 | c.-49+27266A>T (n.-49+27266A>T) c.421A>T (p.Met141Leu) | gnomAD v4 |
| 22 | g.42693531T>C | CA411812376 | A4GALT,CYB5R3 | c.-49+27266A>G (n.-49+27266A>G) c.421A>G (p.Met141Val) | |
| 22 | g.42693531T>G | CA411812377 | A4GALT,CYB5R3 | c.-49+27266A>C (n.-49+27266A>C) c.421A>C (p.Met141Leu) | |
| 22 | g.42693532C>A | CA411812378 | A4GALT,CYB5R3 | c.-49+27265G>T (n.-49+27265G>T) c.420G>T (p.Gln140His) | |
| 22 | g.42693532C>G | CA411812379 | A4GALT,CYB5R3 | c.-49+27265G>C (n.-49+27265G>C) c.420G>C (p.Gln140His) | gnomAD v4 |
| 22 | g.42693532C>T | CA515071132 | A4GALT,CYB5R3 | c.-49+27265G>A (n.-49+27265G>A) c.420G>A (p.Gln140=) | gnomAD v4 |
| 22 | g.42693533T>A | CA411812380 | A4GALT,CYB5R3 | c.-49+27264A>T (n.-49+27264A>T) c.419A>T (p.Gln140Leu) | |
| 22 | g.42693533T>C | CA411812381 | A4GALT,CYB5R3 | c.-49+27264A>G (n.-49+27264A>G) c.419A>G (p.Gln140Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693533T>G | CA411812382 | A4GALT,CYB5R3 | c.-49+27264A>C (n.-49+27264A>C) c.419A>C (p.Gln140Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693533T= | CA2406870356 | A4GALT,CYB5R3 | c.-49+27264A= (n.-49+27264A=) c.419A= (p.Gln140=) | |
| 22 | g.42693534G>A | CA411812385 | A4GALT,CYB5R3 | c.-49+27263C>T (n.-49+27263C>T) c.418C>T (p.Gln140Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693534G>C | CA411812384 | A4GALT,CYB5R3 | c.-49+27263C>G (n.-49+27263C>G) c.418C>G (p.Gln140Glu) | |
| 22 | g.42693534G= | CA2406870357 | A4GALT,CYB5R3 | c.-49+27263C= (n.-49+27263C=) c.418C= (p.Gln140=) | |
| 22 | g.42693534G>T | CA411812383 | A4GALT,CYB5R3 | c.-49+27263C>A (n.-49+27263C>A) c.418C>A (p.Gln140Lys) | |
| 22 | g.42693535del | CA2657078720 | A4GALT,CYB5R3 | c.-49+27263del (n.-49+27263del) c.418del (p.Gln140ArgfsTer?) | gnomAD v4 |
| 22 | g.42693535G>A | CA515071141 | A4GALT,CYB5R3 | c.-49+27262C>T (n.-49+27262C>T) c.417C>T (p.Val139=) | dbSNP gnomAD v2 |
| 22 | g.42693535G>C | CA515071143 | A4GALT,CYB5R3 | c.-49+27262C>G (n.-49+27262C>G) c.417C>G (p.Val139=) | |
| 22 | g.42693535G= | CA2406870358 | A4GALT,CYB5R3 | c.-49+27262C= (n.-49+27262C=) c.417C= (p.Val139=) | |
| 22 | g.42693535G>T | CA515071145 | A4GALT,CYB5R3 | c.-49+27262C>A (n.-49+27262C>A) c.417C>A (p.Val139=) | |
| 22 | g.42693536A= | CA2406870359 | A4GALT,CYB5R3 | c.-49+27261T= (n.-49+27261T=) c.416T= (p.Val139=) | |
| 22 | g.42693536A>C | CA411812386 | A4GALT,CYB5R3 | c.-49+27261T>G (n.-49+27261T>G) c.416T>G (p.Val139Gly) | |
| 22 | g.42693536A>G | CA411812387 | A4GALT,CYB5R3 | c.-49+27261T>C (n.-49+27261T>C) c.416T>C (p.Val139Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693536A>T | CA411812388 | A4GALT,CYB5R3 | c.-49+27261T>A (n.-49+27261T>A) c.416T>A (p.Val139Asp) | |
| 22 | g.42693537C>A | CA411812389 | A4GALT,CYB5R3 | c.-49+27260G>T (n.-49+27260G>T) c.415G>T (p.Val139Phe) | |
| 22 | g.42693537C>G | CA411812390 | A4GALT,CYB5R3 | c.-49+27260G>C (n.-49+27260G>C) c.415G>C (p.Val139Leu) | |
| 22 | g.42693537C>T | CA411812391 | A4GALT,CYB5R3 | c.-49+27260G>A (n.-49+27260G>A) c.415G>A (p.Val139Ile) | gnomAD v4 |
| 22 | g.42693538A>C | CA411812392 | A4GALT,CYB5R3 | c.-49+27259T>G (n.-49+27259T>G) c.414T>G (p.Asn138Lys) | |
| 22 | g.42693538A>G | CA515071157 | A4GALT,CYB5R3 | c.-49+27259T>C (n.-49+27259T>C) c.414T>C (p.Asn138=) | gnomAD v4 |
| 22 | g.42693538A>T | CA411812393 | A4GALT,CYB5R3 | c.-49+27259T>A (n.-49+27259T>A) c.414T>A (p.Asn138Lys) | |
| 22 | g.42693539T>A | CA411812394 | A4GALT,CYB5R3 | c.-49+27258A>T (n.-49+27258A>T) c.413A>T (p.Asn138Ile) | |
| 22 | g.42693539T>C | CA411812395 | A4GALT,CYB5R3 | c.-49+27258A>G (n.-49+27258A>G) c.413A>G (p.Asn138Ser) | |
| 22 | g.42693539T>G | CA411812396 | A4GALT,CYB5R3 | c.-49+27258A>C (n.-49+27258A>C) c.413A>C (p.Asn138Thr) | |
| 22 | g.42693540T>A | CA411812399 | A4GALT,CYB5R3 | c.-49+27257A>T (n.-49+27257A>T) c.412A>T (p.Asn138Tyr) | |
| 22 | g.42693540T>C | CA411812398 | A4GALT,CYB5R3 | c.-49+27257A>G (n.-49+27257A>G) c.412A>G (p.Asn138Asp) | |
| 22 | g.42693540T>G | CA411812397 | A4GALT,CYB5R3 | c.-49+27257A>C (n.-49+27257A>C) c.412A>C (p.Asn138His) | |
| 22 | g.42693541C>A | CA515071171 | A4GALT,CYB5R3 | c.-49+27256G>T (n.-49+27256G>T) c.411G>T (p.Pro137=) | |
| 22 | g.42693541C= | CA2406870360 | A4GALT,CYB5R3 | c.-49+27256G= (n.-49+27256G=) c.411G= (p.Pro137=) | |
| 22 | g.42693541C>G | CA515071170 | A4GALT,CYB5R3 | c.-49+27256G>C (n.-49+27256G>C) c.411G>C (p.Pro137=) | |
| 22 | g.42693541C>T | CA10270312 | A4GALT,CYB5R3 | c.-49+27256G>A (n.-49+27256G>A) c.411G>A (p.Pro137=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693542G>A | CA10270313 | A4GALT,CYB5R3 | c.-49+27255C>T (n.-49+27255C>T) c.410C>T (p.Pro137Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693542G>C | CA411812400 | A4GALT,CYB5R3 | c.-49+27255C>G (n.-49+27255C>G) c.410C>G (p.Pro137Arg) | dbSNP |
| 22 | g.42693542G= | CA2406870361 | A4GALT,CYB5R3 | c.-49+27255C= (n.-49+27255C=) c.410C= (p.Pro137=) | |
| 22 | g.42693542G>T | CA411812401 | A4GALT,CYB5R3 | c.-49+27255C>A (n.-49+27255C>A) c.410C>A (p.Pro137Gln) | |
| 22 | g.42693543G>A | CA411812402 | A4GALT,CYB5R3 | c.-49+27254C>T (n.-49+27254C>T) c.409C>T (p.Pro137Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693543G>C | CA411812403 | A4GALT,CYB5R3 | c.-49+27254C>G (n.-49+27254C>G) c.409C>G (p.Pro137Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693543G= | CA2406870362 | A4GALT,CYB5R3 | c.-49+27254C= (n.-49+27254C=) c.409C= (p.Pro137=) | |
| 22 | g.42693543G>T | CA411812404 | A4GALT,CYB5R3 | c.-49+27254C>A (n.-49+27254C>A) c.409C>A (p.Pro137Thr) | |
| 22 | g.42693544G>A | CA515071182 | A4GALT,CYB5R3 | c.-49+27253C>T (n.-49+27253C>T) c.408C>T (p.Phe136=) | |
| 22 | g.42693544G>C | CA411812405 | A4GALT,CYB5R3 | c.-49+27253C>G (n.-49+27253C>G) c.408C>G (p.Phe136Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693544G= | CA2406870363 | A4GALT,CYB5R3 | c.-49+27253C= (n.-49+27253C=) c.408C= (p.Phe136=) | |
| 22 | g.42693544G>T | CA411812406 | A4GALT,CYB5R3 | c.-49+27253C>A (n.-49+27253C>A) c.408C>A (p.Phe136Leu) | |
| 22 | g.42693545A>C | CA411812407 | A4GALT,CYB5R3 | c.-49+27252T>G (n.-49+27252T>G) c.407T>G (p.Phe136Cys) | |
| 22 | g.42693545A>G | CA411812408 | A4GALT,CYB5R3 | c.-49+27252T>C (n.-49+27252T>C) c.407T>C (p.Phe136Ser) | |
| 22 | g.42693545A>T | CA411812409 | A4GALT,CYB5R3 | c.-49+27252T>A (n.-49+27252T>A) c.407T>A (p.Phe136Tyr) | |
| 22 | g.42693546A>C | CA411812411 | A4GALT,CYB5R3 | c.-49+27251T>G (n.-49+27251T>G) c.406T>G (p.Phe136Val) | |
| 22 | g.42693546A>G | CA411812412 | A4GALT,CYB5R3 | c.-49+27251T>C (n.-49+27251T>C) c.406T>C (p.Phe136Leu) | gnomAD v4 |
| 22 | g.42693546A>T | CA411812410 | A4GALT,CYB5R3 | c.-49+27251T>A (n.-49+27251T>A) c.406T>A (p.Phe136Ile) | |
| 22 | g.42693547G>A | CA515071193 | A4GALT,CYB5R3 | c.-49+27250C>T (n.-49+27250C>T) c.405C>T (p.Cys135=) | gnomAD v4 |
| 22 | g.42693547G>C | CA411812414 | A4GALT,CYB5R3 | c.-49+27250C>G (n.-49+27250C>G) c.405C>G (p.Cys135Trp) | |
| 22 | g.42693547G>T | CA411812413 | A4GALT,CYB5R3 | c.-49+27250C>A (n.-49+27250C>A) c.405C>A (p.Cys135Ter) | |
| 22 | g.42693548C>A | CA411812415 | A4GALT,CYB5R3 | c.-49+27249G>T (n.-49+27249G>T) c.404G>T (p.Cys135Phe) | |
| 22 | g.42693548C>G | CA411812416 | A4GALT,CYB5R3 | c.-49+27249G>C (n.-49+27249G>C) c.404G>C (p.Cys135Ser) | |
| 22 | g.42693548C>T | CA411812417 | A4GALT,CYB5R3 | c.-49+27249G>A (n.-49+27249G>A) c.404G>A (p.Cys135Tyr) | |
| 22 | g.42693549A>C | CA411812418 | A4GALT,CYB5R3 | c.-49+27248T>G (n.-49+27248T>G) c.403T>G (p.Cys135Gly) | |
| 22 | g.42693549A>G | CA411812419 | A4GALT,CYB5R3 | c.-49+27248T>C (n.-49+27248T>C) c.403T>C (p.Cys135Arg) | gnomAD v4 |
| 22 | g.42693549A>T | CA411812420 | A4GALT,CYB5R3 | c.-49+27248T>A (n.-49+27248T>A) c.403T>A (p.Cys135Ser) | |
| 22 | g.42693550G>A | CA515071204 | A4GALT,CYB5R3 | c.-49+27247C>T (n.-49+27247C>T) c.402C>T (p.Ser134=) | |
| 22 | g.42693550G>C | CA411812421 | A4GALT,CYB5R3 | c.-49+27247C>G (n.-49+27247C>G) c.402C>G (p.Ser134Arg) | |
| 22 | g.42693550G>T | CA411812422 | A4GALT,CYB5R3 | c.-49+27247C>A (n.-49+27247C>A) c.402C>A (p.Ser134Arg) | |
| 22 | g.42693551C>A | CA411812423 | A4GALT,CYB5R3 | c.-49+27246G>T (n.-49+27246G>T) c.401G>T (p.Ser134Ile) | |
| 22 | g.42693551C>G | CA411812424 | A4GALT,CYB5R3 | c.-49+27246G>C (n.-49+27246G>C) c.401G>C (p.Ser134Thr) | |
| 22 | g.42693551C>T | CA411812425 | A4GALT,CYB5R3 | c.-49+27246G>A (n.-49+27246G>A) c.401G>A (p.Ser134Asn) | |
| 22 | g.42693552T>A | CA411812428 | A4GALT,CYB5R3 | c.-49+27245A>T (n.-49+27245A>T) c.400A>T (p.Ser134Cys) | |
| 22 | g.42693552T>C | CA411812426 | A4GALT,CYB5R3 | c.-49+27245A>G (n.-49+27245A>G) c.400A>G (p.Ser134Gly) | |
| 22 | g.42693552T>G | CA411812427 | A4GALT,CYB5R3 | c.-49+27245A>C (n.-49+27245A>C) c.400A>C (p.Ser134Arg) | |
| 22 | g.42693553C>A | CA515071219 | A4GALT,CYB5R3 | c.-49+27244G>T (n.-49+27244G>T) c.399G>T (p.Leu133=) | |
| 22 | g.42693553C= | CA2406870364 | A4GALT,CYB5R3 | c.-49+27244G= (n.-49+27244G=) c.399G= (p.Leu133=) | |
| 22 | g.42693553C>G | CA515071220 | A4GALT,CYB5R3 | c.-49+27244G>C (n.-49+27244G>C) c.399G>C (p.Leu133=) | gnomAD v4 |
| 22 | g.42693553C>T | CA515071222 | A4GALT,CYB5R3 | c.-49+27244G>A (n.-49+27244G>A) c.399G>A (p.Leu133=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693554A= | CA2406870365 | A4GALT,CYB5R3 | c.-49+27243T= (n.-49+27243T=) c.398T= (p.Leu133=) | |
| 22 | g.42693554A>C | CA411812429 | A4GALT,CYB5R3 | c.-49+27243T>G (n.-49+27243T>G) c.398T>G (p.Leu133Arg) | |
| 22 | g.42693554A>G | CA411812430 | A4GALT,CYB5R3 | c.-49+27243T>C (n.-49+27243T>C) c.398T>C (p.Leu133Pro) | gnomAD v4 |
| 22 | g.42693554A>T | CA411812431 | A4GALT,CYB5R3 | c.-49+27243T>A (n.-49+27243T>A) c.398T>A (p.Leu133Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693555G>A | CA515071229 | A4GALT,CYB5R3 | c.-49+27242C>T (n.-49+27242C>T) c.397C>T (p.Leu133=) | |
| 22 | g.42693555G>C | CA411812432 | A4GALT,CYB5R3 | c.-49+27242C>G (n.-49+27242C>G) c.397C>G (p.Leu133Val) | |
| 22 | g.42693555G>T | CA411812433 | A4GALT,CYB5R3 | c.-49+27242C>A (n.-49+27242C>A) c.397C>A (p.Leu133Met) | gnomAD v4 |
| 22 | g.42693556A>C | CA515071234 | A4GALT,CYB5R3 | c.-49+27241T>G (n.-49+27241T>G) c.396T>G (p.Leu132=) | |
| 22 | g.42693556A>G | CA515071236 | A4GALT,CYB5R3 | c.-49+27241T>C (n.-49+27241T>C) c.396T>C (p.Leu132=) | |
| 22 | g.42693556A>T | CA515071238 | A4GALT,CYB5R3 | c.-49+27241T>A (n.-49+27241T>A) c.396T>A (p.Leu132=) | |
| 22 | g.42693557A>C | CA411812434 | A4GALT,CYB5R3 | c.-49+27240T>G (n.-49+27240T>G) c.395T>G (p.Leu132Arg) | |
| 22 | g.42693557A>G | CA411812435 | A4GALT,CYB5R3 | c.-49+27240T>C (n.-49+27240T>C) c.395T>C (p.Leu132Pro) | |
| 22 | g.42693557A>T | CA411812436 | A4GALT,CYB5R3 | c.-49+27240T>A (n.-49+27240T>A) c.395T>A (p.Leu132His) | |
| 22 | g.42693558G>A | CA411812437 | A4GALT,CYB5R3 | c.-49+27239C>T (n.-49+27239C>T) c.394C>T (p.Leu132Phe) | |
| 22 | g.42693558G>C | CA411812438 | A4GALT,CYB5R3 | c.-49+27239C>G (n.-49+27239C>G) c.394C>G (p.Leu132Val) | |
| 22 | g.42693558G= | CA2406870366 | A4GALT,CYB5R3 | c.-49+27239C= (n.-49+27239C=) c.394C= (p.Leu132=) | |
| 22 | g.42693558G>T | CA10270314 | A4GALT,CYB5R3 | c.-49+27239C>A (n.-49+27239C>A) c.394C>A (p.Leu132Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693559T>A | CA515071248 | A4GALT,CYB5R3 | c.-49+27238A>T (n.-49+27238A>T) c.393A>T (p.Ser131=) | |
| 22 | g.42693559T>C | CA515071251 | A4GALT,CYB5R3 | c.-49+27238A>G (n.-49+27238A>G) c.393A>G (p.Ser131=) | |
| 22 | g.42693559T>G | CA515071252 | A4GALT,CYB5R3 | c.-49+27238A>C (n.-49+27238A>C) c.393A>C (p.Ser131=) | gnomAD v4 |
| 22 | g.42693560G>A | CA411812440 | A4GALT,CYB5R3 | c.-49+27237C>T (n.-49+27237C>T) c.392C>T (p.Ser131Leu) | |
| 22 | g.42693560G>C | CA411812441 | A4GALT,CYB5R3 | c.-49+27237C>G (n.-49+27237C>G) c.392C>G (p.Ser131Ter) | |
| 22 | g.42693560G>T | CA411812439 | A4GALT,CYB5R3 | c.-49+27237C>A (n.-49+27237C>A) c.392C>A (p.Ser131Ter) | |
| 22 | g.42693560dup | CA2657078794 | A4GALT,CYB5R3 | c.-49+27237dup (n.-49+27237dup) c.392dup (p.Leu132ThrfsTer?) | gnomAD v4 |
| 22 | g.42693561A>C | CA411812442 | A4GALT,CYB5R3 | c.-49+27236T>G (n.-49+27236T>G) c.391T>G (p.Ser131Ala) | |
| 22 | g.42693561A>G | CA411812443 | A4GALT,CYB5R3 | c.-49+27236T>C (n.-49+27236T>C) c.391T>C (p.Ser131Pro) | |
| 22 | g.42693561A>T | CA411812444 | A4GALT,CYB5R3 | c.-49+27236T>A (n.-49+27236T>A) c.391T>A (p.Ser131Thr) | |
| 22 | g.42693562G>A | CA515071265 | A4GALT,CYB5R3 | c.-49+27235C>T (n.-49+27235C>T) c.390C>T (p.Ile130=) | |
| 22 | g.42693562G>C | CA411812445 | A4GALT,CYB5R3 | c.-49+27235C>G (n.-49+27235C>G) c.390C>G (p.Ile130Met) | gnomAD v4 |
| 22 | g.42693562G>T | CA515071268 | A4GALT,CYB5R3 | c.-49+27235C>A (n.-49+27235C>A) c.390C>A (p.Ile130=) | |
| 22 | g.42693563A>C | CA411812446 | A4GALT,CYB5R3 | c.-49+27234T>G (n.-49+27234T>G) c.389T>G (p.Ile130Ser) | |
| 22 | g.42693563A>G | CA411812447 | A4GALT,CYB5R3 | c.-49+27234T>C (n.-49+27234T>C) c.389T>C (p.Ile130Thr) | |
| 22 | g.42693563A>T | CA411812448 | A4GALT,CYB5R3 | c.-49+27234T>A (n.-49+27234T>A) c.389T>A (p.Ile130Asn) | |
| 22 | g.42693564T>A | CA411812449 | A4GALT,CYB5R3 | c.-49+27233A>T (n.-49+27233A>T) c.388A>T (p.Ile130Phe) | |
| 22 | g.42693564T>C | CA411812450 | A4GALT,CYB5R3 | c.-49+27233A>G (n.-49+27233A>G) c.388A>G (p.Ile130Val) | |
| 22 | g.42693564T>G | CA411812451 | A4GALT,CYB5R3 | c.-49+27233A>C (n.-49+27233A>C) c.388A>C (p.Ile130Leu) | |
| 22 | g.42693564dup | CA2695230997 | A4GALT,CYB5R3 | c.-49+27233dup (n.-49+27233dup) c.388dup (p.Ile130AsnfsTer?) | |
| 22 | g.42693565G>A | CA515071283 | A4GALT,CYB5R3 | c.-49+27232C>T (n.-49+27232C>T) c.387C>T (p.Gly129=) | |
| 22 | g.42693565G>C | CA515071281 | A4GALT,CYB5R3 | c.-49+27232C>G (n.-49+27232C>G) c.387C>G (p.Gly129=) | |
| 22 | g.42693565G>T | CA515071279 | A4GALT,CYB5R3 | c.-49+27232C>A (n.-49+27232C>A) c.387C>A (p.Gly129=) | |
| 22 | g.42693566C>A | CA411812452 | A4GALT,CYB5R3 | c.-49+27231G>T (n.-49+27231G>T) c.386G>T (p.Gly129Val) | |
| 22 | g.42693566C= | CA2406870367 | A4GALT,CYB5R3 | c.-49+27231G= (n.-49+27231G=) c.386G= (p.Gly129=) | |
| 22 | g.42693566C>G | CA411812453 | A4GALT,CYB5R3 | c.-49+27231G>C (n.-49+27231G>C) c.386G>C (p.Gly129Ala) | |
| 22 | g.42693566C>T | CA411812454 | A4GALT,CYB5R3 | c.-49+27231G>A (n.-49+27231G>A) c.386G>A (p.Gly129Asp) | dbSNP gnomAD v4 |
| 22 | g.42693567C>A | CA411812456 | A4GALT,CYB5R3 | c.-49+27230G>T (n.-49+27230G>T) c.385G>T (p.Gly129Cys) | |
| 22 | g.42693567C= | CA2406870368 | A4GALT,CYB5R3 | c.-49+27230G= (n.-49+27230G=) c.385G= (p.Gly129=) | |
| 22 | g.42693567C>G | CA411812455 | A4GALT,CYB5R3 | c.-49+27230G>C (n.-49+27230G>C) c.385G>C (p.Gly129Arg) | |
| 22 | g.42693567C>T | CA10270315 | A4GALT,CYB5R3 | c.-49+27230G>A (n.-49+27230G>A) c.385G>A (p.Gly129Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693568C>A | CA515071292 | A4GALT,CYB5R3 | c.-49+27229G>T (n.-49+27229G>T) c.384G>T (p.Leu128=) | |
| 22 | g.42693568C>G | CA515071294 | A4GALT,CYB5R3 | c.-49+27229G>C (n.-49+27229G>C) c.384G>C (p.Leu128=) | |
| 22 | g.42693568C>T | CA515071297 | A4GALT,CYB5R3 | c.-49+27229G>A (n.-49+27229G>A) c.384G>A (p.Leu128=) | |
| 22 | g.42693569A= | CA2406870369 | A4GALT,CYB5R3 | c.-49+27228T= (n.-49+27228T=) c.383T= (p.Leu128=) | |
| 22 | g.42693569A>C | CA411812457 | A4GALT,CYB5R3 | c.-49+27228T>G (n.-49+27228T>G) c.383T>G (p.Leu128Arg) | gnomAD v4 |
| 22 | g.42693569A>G | CA411812458 | A4GALT,CYB5R3 | c.-49+27228T>C (n.-49+27228T>C) c.383T>C (p.Leu128Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693569A>T | CA411812459 | A4GALT,CYB5R3 | c.-49+27228T>A (n.-49+27228T>A) c.383T>A (p.Leu128Gln) | |
| 22 | g.42693570G>A | CA10270316 | A4GALT,CYB5R3 | c.-49+27227C>T (n.-49+27227C>T) c.382C>T (p.Leu128=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693570G>C | CA411812460 | A4GALT,CYB5R3 | c.-49+27227C>G (n.-49+27227C>G) c.382C>G (p.Leu128Val) | |
| 22 | g.42693570G= | CA2406870370 | A4GALT,CYB5R3 | c.-49+27227C= (n.-49+27227C=) c.382C= (p.Leu128=) | |
| 22 | g.42693570G>T | CA411812461 | A4GALT,CYB5R3 | c.-49+27227C>A (n.-49+27227C>A) c.382C>A (p.Leu128Met) | |
| 22 | g.42693571G>A | CA515071309 | A4GALT,CYB5R3 | c.-49+27226C>T (n.-49+27226C>T) c.381C>T (p.His127=) | |
| 22 | g.42693571G>C | CA411812462 | A4GALT,CYB5R3 | c.-49+27226C>G (n.-49+27226C>G) c.381C>G (p.His127Gln) | |
| 22 | g.42693571G>T | CA411812463 | A4GALT,CYB5R3 | c.-49+27226C>A (n.-49+27226C>A) c.381C>A (p.His127Gln) | |
| 22 | g.42693572T>A | CA411812464 | A4GALT,CYB5R3 | c.-49+27225A>T (n.-49+27225A>T) c.380A>T (p.His127Leu) | |
| 22 | g.42693572T>C | CA411812465 | A4GALT,CYB5R3 | c.-49+27225A>G (n.-49+27225A>G) c.380A>G (p.His127Arg) | |
| 22 | g.42693572T>G | CA411812466 | A4GALT,CYB5R3 | c.-49+27225A>C (n.-49+27225A>C) c.380A>C (p.His127Pro) | |
| 22 | g.42693573G>A | CA411812467 | A4GALT,CYB5R3 | c.-49+27224C>T (n.-49+27224C>T) c.379C>T (p.His127Tyr) | |
| 22 | g.42693573G>C | CA411812468 | A4GALT,CYB5R3 | c.-49+27224C>G (n.-49+27224C>G) c.379C>G (p.His127Asp) | |
| 22 | g.42693573G>T | CA411812469 | A4GALT,CYB5R3 | c.-49+27224C>A (n.-49+27224C>A) c.379C>A (p.His127Asn) | |
| 22 | g.42693574C>A | CA515071325 | A4GALT,CYB5R3 | c.-49+27223G>T (n.-49+27223G>T) c.378G>T (p.Arg126=) | |
| 22 | g.42693574C>G | CA515071327 | A4GALT,CYB5R3 | c.-49+27223G>C (n.-49+27223G>C) c.378G>C (p.Arg126=) | gnomAD v4 |
| 22 | g.42693574C>T | CA515071328 | A4GALT,CYB5R3 | c.-49+27223G>A (n.-49+27223G>A) c.378G>A (p.Arg126=) | |
| 22 | g.42693575C>A | CA411812470 | A4GALT,CYB5R3 | c.-49+27222G>T (n.-49+27222G>T) c.377G>T (p.Arg126Leu) | |
| 22 | g.42693575C= | CA2406870371 | A4GALT,CYB5R3 | c.-49+27222G= (n.-49+27222G=) c.377G= (p.Arg126=) | |
| 22 | g.42693575C>G | CA411812471 | A4GALT,CYB5R3 | c.-49+27222G>C (n.-49+27222G>C) c.377G>C (p.Arg126Pro) | gnomAD v4 |
| 22 | g.42693575C>T | CA10270317 | A4GALT,CYB5R3 | c.-49+27222G>A (n.-49+27222G>A) c.377G>A (p.Arg126Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693576G>A | CA10270318 | A4GALT,CYB5R3 | c.-49+27221C>T (n.-49+27221C>T) c.376C>T (p.Arg126Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693576G>C | CA10270319 | A4GALT,CYB5R3 | c.-49+27221C>G (n.-49+27221C>G) c.376C>G (p.Arg126Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693576G= | CA2406870372 | A4GALT,CYB5R3 | c.-49+27221C= (n.-49+27221C=) c.376C= (p.Arg126=) | |
| 22 | g.42693576G>T | CA515071338 | A4GALT,CYB5R3 | c.-49+27221C>A (n.-49+27221C>A) c.376C>A (p.Arg126=) | |
| 22 | g.42693577G>A | CA10270320 | A4GALT,CYB5R3 | c.-49+27220C>T (n.-49+27220C>T) c.375C>T (p.Pro125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693577G>C | CA515071343 | A4GALT,CYB5R3 | c.-49+27220C>G (n.-49+27220C>G) c.375C>G (p.Pro125=) | dbSNP |
| 22 | g.42693577G= | CA2406870373 | A4GALT,CYB5R3 | c.-49+27220C= (n.-49+27220C=) c.375C= (p.Pro125=) | |
| 22 | g.42693577G>T | CA515071340 | A4GALT,CYB5R3 | c.-49+27220C>A (n.-49+27220C>A) c.375C>A (p.Pro125=) | |
| 22 | g.42693578G>A | CA411812472 | A4GALT,CYB5R3 | c.-49+27219C>T (n.-49+27219C>T) c.374C>T (p.Pro125Leu) | |
| 22 | g.42693578G>C | CA324732397 | A4GALT,CYB5R3 | c.-49+27219C>G (n.-49+27219C>G) c.374C>G (p.Pro125Arg) | dbSNP |
| 22 | g.42693578G= | CA2406870374 | A4GALT,CYB5R3 | c.-49+27219C= (n.-49+27219C=) c.374C= (p.Pro125=) | |
| 22 | g.42693578G>T | CA411812473 | A4GALT,CYB5R3 | c.-49+27219C>A (n.-49+27219C>A) c.374C>A (p.Pro125His) | |
| 22 | g.42693579G>A | CA411812474 | A4GALT,CYB5R3 | c.-49+27218C>T (n.-49+27218C>T) c.373C>T (p.Pro125Ser) | |
| 22 | g.42693579G>C | CA411812475 | A4GALT,CYB5R3 | c.-49+27218C>G (n.-49+27218C>G) c.373C>G (p.Pro125Ala) | |
| 22 | g.42693579G>T | CA411812476 | A4GALT,CYB5R3 | c.-49+27218C>A (n.-49+27218C>A) c.373C>A (p.Pro125Thr) | |
| 22 | g.42693580C>A | CA515071354 | A4GALT,CYB5R3 | c.-49+27217G>T (n.-49+27217G>T) c.372G>T (p.Leu124=) | |
| 22 | g.42693580C= | CA2406870375 | A4GALT,CYB5R3 | c.-49+27217G= (n.-49+27217G=) c.372G= (p.Leu124=) | |
| 22 | g.42693580C>G | CA515071357 | A4GALT,CYB5R3 | c.-49+27217G>C (n.-49+27217G>C) c.372G>C (p.Leu124=) | dbSNP gnomAD v2 |
| 22 | g.42693580C>T | CA10270321 | A4GALT,CYB5R3 | c.-49+27217G>A (n.-49+27217G>A) c.372G>A (p.Leu124=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693581A>C | CA411812477 | A4GALT,CYB5R3 | c.-49+27216T>G (n.-49+27216T>G) c.371T>G (p.Leu124Arg) | |
| 22 | g.42693581A>G | CA411812478 | A4GALT,CYB5R3 | c.-49+27216T>C (n.-49+27216T>C) c.371T>C (p.Leu124Pro) | |
| 22 | g.42693581A>T | CA411812479 | A4GALT,CYB5R3 | c.-49+27216T>A (n.-49+27216T>A) c.371T>A (p.Leu124Gln) | |
| 22 | g.42693585_42693586del | CA2657078828 | A4GALT,CYB5R3 | c.-49+27215_-49+27216del (n.-49+27215_-49+27216del) c.370_371del (p.Leu124AlafsTer?) | gnomAD v4 |
| 22 | g.42693582G>A | CA515071366 | A4GALT,CYB5R3 | c.-49+27215C>T (n.-49+27215C>T) c.370C>T (p.Leu124=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693582G>C | CA411812480 | A4GALT,CYB5R3 | c.-49+27215C>G (n.-49+27215C>G) c.370C>G (p.Leu124Val) | |
| 22 | g.42693582G= | CA2406870376 | A4GALT,CYB5R3 | c.-49+27215C= (n.-49+27215C=) c.370C= (p.Leu124=) | |
| 22 | g.42693582G>T | CA324732401 | A4GALT,CYB5R3 | c.-49+27215C>A (n.-49+27215C>A) c.370C>A (p.Leu124Met) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693583A>C | CA515071372 | A4GALT,CYB5R3 | c.-49+27214T>G (n.-49+27214T>G) c.369T>G (p.Ser123=) | |
| 22 | g.42693583A>G | CA515071374 | A4GALT,CYB5R3 | c.-49+27214T>C (n.-49+27214T>C) c.369T>C (p.Ser123=) | dbSNP |
| 22 | g.42693583A>T | CA515071376 | A4GALT,CYB5R3 | c.-49+27214T>A (n.-49+27214T>A) c.369T>A (p.Ser123=) | |
| 22 | g.42693584G>A | CA411812483 | A4GALT,CYB5R3 | c.-49+27213C>T (n.-49+27213C>T) c.368C>T (p.Ser123Phe) | gnomAD v4 |
| 22 | g.42693584G>C | CA411812481 | A4GALT,CYB5R3 | c.-49+27213C>G (n.-49+27213C>G) c.368C>G (p.Ser123Cys) | |
| 22 | g.42693584G>T | CA411812482 | A4GALT,CYB5R3 | c.-49+27213C>A (n.-49+27213C>A) c.368C>A (p.Ser123Tyr) | |
| 22 | g.42693585A= | CA2406870377 | A4GALT,CYB5R3 | c.-49+27212T= (n.-49+27212T=) c.367T= (p.Ser123=) | |
| 22 | g.42693585A>C | CA411812484 | A4GALT,CYB5R3 | c.-49+27212T>G (n.-49+27212T>G) c.367T>G (p.Ser123Ala) | |
| 22 | g.42693585A>G | CA10270322 | A4GALT,CYB5R3 | c.-49+27212T>C (n.-49+27212T>C) c.367T>C (p.Ser123Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693585A>T | CA411812485 | A4GALT,CYB5R3 | c.-49+27212T>A (n.-49+27212T>A) c.367T>A (p.Ser123Thr) | |
| 22 | g.42693586G>A | CA515071399 | A4GALT,CYB5R3 | c.-49+27211C>T (n.-49+27211C>T) c.366C>T (p.Ala122=) | gnomAD v4 |
| 22 | g.42693586G>C | CA515071394 | A4GALT,CYB5R3 | c.-49+27211C>G (n.-49+27211C>G) c.366C>G (p.Ala122=) | |
| 22 | g.42693586G>T | CA515071397 | A4GALT,CYB5R3 | c.-49+27211C>A (n.-49+27211C>A) c.366C>A (p.Ala122=) | |
| 22 | g.42693587G>A | CA411812486 | A4GALT,CYB5R3 | c.-49+27210C>T (n.-49+27210C>T) c.365C>T (p.Ala122Val) | dbSNP gnomAD v4 |
| 22 | g.42693587G>C | CA411812487 | A4GALT,CYB5R3 | c.-49+27210C>G (n.-49+27210C>G) c.365C>G (p.Ala122Gly) | |
| 22 | g.42693587G>T | CA411812488 | A4GALT,CYB5R3 | c.-49+27210C>A (n.-49+27210C>A) c.365C>A (p.Ala122Asp) | |
| 22 | g.42693588C>A | CA411812489 | A4GALT,CYB5R3 | c.-49+27209G>T (n.-49+27209G>T) c.364G>T (p.Ala122Ser) | |
| 22 | g.42693588C= | CA2406870378 | A4GALT,CYB5R3 | c.-49+27209G= (n.-49+27209G=) c.364G= (p.Ala122=) | |
| 22 | g.42693588C>G | CA411812490 | A4GALT,CYB5R3 | c.-49+27209G>C (n.-49+27209G>C) c.364G>C (p.Ala122Pro) | |
| 22 | g.42693588C>T | CA10270323 | A4GALT,CYB5R3 | c.-49+27209G>A (n.-49+27209G>A) c.364G>A (p.Ala122Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693589G>A | CA324732407 | A4GALT,CYB5R3 | c.-49+27208C>T (n.-49+27208C>T) c.363C>T (p.Asn121=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693589G>C | CA411812491 | A4GALT,CYB5R3 | c.-49+27208C>G (n.-49+27208C>G) c.363C>G (p.Asn121Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693589G= | CA2406870379 | A4GALT,CYB5R3 | c.-49+27208C= (n.-49+27208C=) c.363C= (p.Asn121=) | |
| 22 | g.42693589G>T | CA411812492 | A4GALT,CYB5R3 | c.-49+27208C>A (n.-49+27208C>A) c.363C>A (p.Asn121Lys) | |
| 22 | g.42693590T>A | CA411812495 | A4GALT,CYB5R3 | c.-49+27207A>T (n.-49+27207A>T) c.362A>T (p.Asn121Ile) | |
| 22 | g.42693590T>C | CA411812494 | A4GALT,CYB5R3 | c.-49+27207A>G (n.-49+27207A>G) c.362A>G (p.Asn121Ser) | |
| 22 | g.42693590T>G | CA411812493 | A4GALT,CYB5R3 | c.-49+27207A>C (n.-49+27207A>C) c.362A>C (p.Asn121Thr) | |
| 22 | g.42693591T>A | CA411812496 | A4GALT,CYB5R3 | c.-49+27206A>T (n.-49+27206A>T) c.361A>T (p.Asn121Tyr) | |
| 22 | g.42693591T>C | CA411812497 | A4GALT,CYB5R3 | c.-49+27206A>G (n.-49+27206A>G) c.361A>G (p.Asn121Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693591T>G | CA411812498 | A4GALT,CYB5R3 | c.-49+27206A>C (n.-49+27206A>C) c.361A>C (p.Asn121His) | |
| 22 | g.42693591T= | CA2406870380 | A4GALT,CYB5R3 | c.-49+27206A= (n.-49+27206A=) c.361A= (p.Asn121=) | |
| 22 | g.42693592G>A | CA515071422 | A4GALT,CYB5R3 | c.-49+27205C>T (n.-49+27205C>T) c.360C>T (p.Gly120=) | |
| 22 | g.42693592G>C | CA515071424 | A4GALT,CYB5R3 | c.-49+27205C>G (n.-49+27205C>G) c.360C>G (p.Gly120=) | |
| 22 | g.42693592G>T | CA515071427 | A4GALT,CYB5R3 | c.-49+27205C>A (n.-49+27205C>A) c.360C>A (p.Gly120=) | |
| 22 | g.42693593C>A | CA411812499 | A4GALT,CYB5R3 | c.-49+27204G>T (n.-49+27204G>T) c.359G>T (p.Gly120Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693593C= | CA2406870381 | A4GALT,CYB5R3 | c.-49+27204G= (n.-49+27204G=) c.359G= (p.Gly120=) | |
| 22 | g.42693593C>G | CA411812500 | A4GALT,CYB5R3 | c.-49+27204G>C (n.-49+27204G>C) c.359G>C (p.Gly120Ala) | |
| 22 | g.42693593C>T | CA411812501 | A4GALT,CYB5R3 | c.-49+27204G>A (n.-49+27204G>A) c.359G>A (p.Gly120Asp) | |
| 22 | g.42693594C>A | CA411812502 | A4GALT,CYB5R3 | c.-49+27203G>T (n.-49+27203G>T) c.358G>T (p.Gly120Cys) | |
| 22 | g.42693594C= | CA2406870382 | A4GALT,CYB5R3 | c.-49+27203G= (n.-49+27203G=) c.358G= (p.Gly120=) | |
| 22 | g.42693594C>G | CA411812503 | A4GALT,CYB5R3 | c.-49+27203G>C (n.-49+27203G>C) c.358G>C (p.Gly120Arg) | |
| 22 | g.42693594C>T | CA10270324 | A4GALT,CYB5R3 | c.-49+27203G>A (n.-49+27203G>A) c.358G>A (p.Gly120Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693595A>C | CA515071437 | A4GALT,CYB5R3 | c.-49+27202T>G (n.-49+27202T>G) c.357T>G (p.Gly119=) | |
| 22 | g.42693595A>G | CA515071439 | A4GALT,CYB5R3 | c.-49+27202T>C (n.-49+27202T>C) c.357T>C (p.Gly119=) | |
| 22 | g.42693595A>T | CA515071441 | A4GALT,CYB5R3 | c.-49+27202T>A (n.-49+27202T>A) c.357T>A (p.Gly119=) | |
| 22 | g.42693596C>A | CA411812504 | A4GALT,CYB5R3 | c.-49+27201G>T (n.-49+27201G>T) c.356G>T (p.Gly119Val) | |
| 22 | g.42693596C>G | CA411812505 | A4GALT,CYB5R3 | c.-49+27201G>C (n.-49+27201G>C) c.356G>C (p.Gly119Ala) | gnomAD v4 |
| 22 | g.42693596C>T | CA411812506 | A4GALT,CYB5R3 | c.-49+27201G>A (n.-49+27201G>A) c.356G>A (p.Gly119Asp) | gnomAD v4 |
| 22 | g.42693597C>A | CA411812509 | A4GALT,CYB5R3 | c.-49+27200G>T (n.-49+27200G>T) c.355G>T (p.Gly119Cys) | |
| 22 | g.42693597C>G | CA411812508 | A4GALT,CYB5R3 | c.-49+27200G>C (n.-49+27200G>C) c.355G>C (p.Gly119Arg) | |
| 22 | g.42693597C>T | CA411812507 | A4GALT,CYB5R3 | c.-49+27200G>A (n.-49+27200G>A) c.355G>A (p.Gly119Ser) | gnomAD v4 |
| 22 | g.42693598C>A | CA515071452 | A4GALT,CYB5R3 | c.-49+27199G>T (n.-49+27199G>T) c.354G>T (p.Pro118=) | |
| 22 | g.42693598C= | CA2406870383 | A4GALT,CYB5R3 | c.-49+27199G= (n.-49+27199G=) c.354G= (p.Pro118=) | |
| 22 | g.42693598C>G | CA515071454 | A4GALT,CYB5R3 | c.-49+27199G>C (n.-49+27199G>C) c.354G>C (p.Pro118=) | gnomAD v4 |
| 22 | g.42693598C>T | CA515071456 | A4GALT,CYB5R3 | c.-49+27199G>A (n.-49+27199G>A) c.354G>A (p.Pro118=) | dbSNP gnomAD v4 |
| 22 | g.42693599G>A | CA10270325 | A4GALT,CYB5R3 | c.-49+27198C>T (n.-49+27198C>T) c.353C>T (p.Pro118Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693599G>C | CA411812510 | A4GALT,CYB5R3 | c.-49+27198C>G (n.-49+27198C>G) c.353C>G (p.Pro118Arg) | |
| 22 | g.42693599G= | CA2406870384 | A4GALT,CYB5R3 | c.-49+27198C= (n.-49+27198C=) c.353C= (p.Pro118=) | |
| 22 | g.42693599G>T | CA411812511 | A4GALT,CYB5R3 | c.-49+27198C>A (n.-49+27198C>A) c.353C>A (p.Pro118Gln) | |
| 22 | g.42693600G>A | CA411812512 | A4GALT,CYB5R3 | c.-49+27197C>T (n.-49+27197C>T) c.352C>T (p.Pro118Ser) | COSMIC |
| 22 | g.42693600G>C | CA411812513 | A4GALT,CYB5R3 | c.-49+27197C>G (n.-49+27197C>G) c.352C>G (p.Pro118Ala) | |
| 22 | g.42693600G>T | CA411812514 | A4GALT,CYB5R3 | c.-49+27197C>A (n.-49+27197C>A) c.352C>A (p.Pro118Thr) | |
| 22 | g.42693601A>C | CA515071468 | A4GALT,CYB5R3 | c.-49+27196T>G (n.-49+27196T>G) c.351T>G (p.Leu117=) | |
| 22 | g.42693601A>G | CA515071470 | A4GALT,CYB5R3 | c.-49+27196T>C (n.-49+27196T>C) c.351T>C (p.Leu117=) | gnomAD v4 |
| 22 | g.42693601A>T | CA515071472 | A4GALT,CYB5R3 | c.-49+27196T>A (n.-49+27196T>A) c.351T>A (p.Leu117=) | |
| 22 | g.42693602A>C | CA411812515 | A4GALT,CYB5R3 | c.-49+27195T>G (n.-49+27195T>G) c.350T>G (p.Leu117Arg) | |
| 22 | g.42693602A>G | CA411812516 | A4GALT,CYB5R3 | c.-49+27195T>C (n.-49+27195T>C) c.350T>C (p.Leu117Pro) | |
| 22 | g.42693602A>T | CA411812517 | A4GALT,CYB5R3 | c.-49+27195T>A (n.-49+27195T>A) c.350T>A (p.Leu117His) | |
| 22 | g.42693603G>A | CA411812518 | A4GALT,CYB5R3 | c.-49+27194C>T (n.-49+27194C>T) c.349C>T (p.Leu117Phe) | gnomAD v4 |
| 22 | g.42693603G>C | CA411812519 | A4GALT,CYB5R3 | c.-49+27194C>G (n.-49+27194C>G) c.349C>G (p.Leu117Val) | |
| 22 | g.42693603G>T | CA411812520 | A4GALT,CYB5R3 | c.-49+27194C>A (n.-49+27194C>A) c.349C>A (p.Leu117Ile) |