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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.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.42693518_42693527del | CA2657078650 | A4GALT,CYB5R3 | c.-49+27270_-49+27279del (n.-49+27270_-49+27279del) c.425_434del (p.Leu142ProfsTer?) | gnomAD v4 |
| 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) | |
| 22 | g.42693604C>A | CA515071480 | A4GALT,CYB5R3 | c.-49+27193G>T (n.-49+27193G>T) c.348G>T (p.Gly116=) | |
| 22 | g.42693604C= | CA2406870385 | A4GALT,CYB5R3 | c.-49+27193G= (n.-49+27193G=) c.348G= (p.Gly116=) | |
| 22 | g.42693604C>G | CA515071482 | A4GALT,CYB5R3 | c.-49+27193G>C (n.-49+27193G>C) c.348G>C (p.Gly116=) | |
| 22 | g.42693604C>T | CA10270326 | A4GALT,CYB5R3 | c.-49+27193G>A (n.-49+27193G>A) c.348G>A (p.Gly116=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693605C>A | CA411812522 | A4GALT,CYB5R3 | c.-49+27192G>T (n.-49+27192G>T) c.347G>T (p.Gly116Val) | |
| 22 | g.42693605C>G | CA411812523 | A4GALT,CYB5R3 | c.-49+27192G>C (n.-49+27192G>C) c.347G>C (p.Gly116Ala) | |
| 22 | g.42693605C>T | CA411812521 | A4GALT,CYB5R3 | c.-49+27192G>A (n.-49+27192G>A) c.347G>A (p.Gly116Glu) | |
| 22 | g.42693606C>A | CA411812524 | A4GALT,CYB5R3 | c.-49+27191G>T (n.-49+27191G>T) c.346G>T (p.Gly116Trp) | |
| 22 | g.42693606C>G | CA411812525 | A4GALT,CYB5R3 | c.-49+27191G>C (n.-49+27191G>C) c.346G>C (p.Gly116Arg) | |
| 22 | g.42693606C>T | CA411812526 | A4GALT,CYB5R3 | c.-49+27191G>A (n.-49+27191G>A) c.346G>A (p.Gly116Arg) | |
| 22 | g.42693607T>A | CA411812527 | A4GALT,CYB5R3 | c.-49+27190A>T (n.-49+27190A>T) c.345A>T (p.Lys115Asn) | |
| 22 | g.42693607T>C | CA515071496 | A4GALT,CYB5R3 | c.-49+27190A>G (n.-49+27190A>G) c.345A>G (p.Lys115=) | |
| 22 | g.42693607T>G | CA411812528 | A4GALT,CYB5R3 | c.-49+27190A>C (n.-49+27190A>C) c.345A>C (p.Lys115Asn) | |
| 22 | g.42693609del | CA2695230998 | A4GALT,CYB5R3 | c.-49+27190del (n.-49+27190del) c.345del (p.Leu117PhefsTer17) | |
| 22 | g.42693608T>A | CA411812531 | A4GALT,CYB5R3 | c.-49+27189A>T (n.-49+27189A>T) c.344A>T (p.Lys115Ile) | |
| 22 | g.42693608T>C | CA411812530 | A4GALT,CYB5R3 | c.-49+27189A>G (n.-49+27189A>G) c.344A>G (p.Lys115Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693608T>G | CA411812529 | A4GALT,CYB5R3 | c.-49+27189A>C (n.-49+27189A>C) c.344A>C (p.Lys115Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693608T= | CA2406870386 | A4GALT,CYB5R3 | c.-49+27189A= (n.-49+27189A=) c.344A= (p.Lys115=) | |
| 22 | g.42693609T>A | CA10270327 | A4GALT,CYB5R3 | c.-49+27188A>T (n.-49+27188A>T) c.343A>T (p.Lys115Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693609T>C | CA411812532 | A4GALT,CYB5R3 | c.-49+27188A>G (n.-49+27188A>G) c.343A>G (p.Lys115Glu) | |
| 22 | g.42693609T>G | CA411812533 | A4GALT,CYB5R3 | c.-49+27188A>C (n.-49+27188A>C) c.343A>C (p.Lys115Gln) | |
| 22 | g.42693609T= | CA2406870387 | A4GALT,CYB5R3 | c.-49+27188A= (n.-49+27188A=) c.343A= (p.Lys115=) | |
| 22 | g.42693610C>A | CA411812534 | A4GALT,CYB5R3 | c.-49+27187G>T (n.-49+27187G>T) c.342G>T (p.Met114Ile) | |
| 22 | g.42693610C= | CA2406870388 | A4GALT,CYB5R3 | c.-49+27187G= (n.-49+27187G=) c.342G= (p.Met114=) | |
| 22 | g.42693610C>G | CA411812535 | A4GALT,CYB5R3 | c.-49+27187G>C (n.-49+27187G>C) c.342G>C (p.Met114Ile) | |
| 22 | g.42693610C>T | CA324732416 | A4GALT,CYB5R3 | c.-49+27187G>A (n.-49+27187G>A) c.342G>A (p.Met114Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693611A>C | CA411812538 | A4GALT,CYB5R3 | c.-49+27186T>G (n.-49+27186T>G) c.341T>G (p.Met114Arg) | |
| 22 | g.42693611A>G | CA411812536 | A4GALT,CYB5R3 | c.-49+27186T>C (n.-49+27186T>C) c.341T>C (p.Met114Thr) | |
| 22 | g.42693611A>T | CA411812537 | A4GALT,CYB5R3 | c.-49+27186T>A (n.-49+27186T>A) c.341T>A (p.Met114Lys) | gnomAD v4 |
| 22 | g.42693612T>A | CA411812539 | A4GALT,CYB5R3 | c.-49+27185A>T (n.-49+27185A>T) c.340A>T (p.Met114Leu) | |
| 22 | g.42693612T>C | CA411812540 | A4GALT,CYB5R3 | c.-49+27185A>G (n.-49+27185A>G) c.340A>G (p.Met114Val) | |
| 22 | g.42693612T>G | CA411812541 | A4GALT,CYB5R3 | c.-49+27185A>C (n.-49+27185A>C) c.340A>C (p.Met114Leu) | |
| 22 | g.42693612_42693613delinsAA | CA2573158195 | A4GALT,CYB5R3 | c.-49+27184_-49+27185delinsTT (n.-49+27184_-49+27185delinsTT) c.339_340delinsTT (p.Met114Leu) | ClinVar dbSNP |
| 22 | g.42693613C>A | CA515071521 | A4GALT,CYB5R3 | c.-49+27184G>T (n.-49+27184G>T) c.339G>T (p.Leu113=) | |
| 22 | g.42693613C>G | CA515071525 | A4GALT,CYB5R3 | c.-49+27184G>C (n.-49+27184G>C) c.339G>C (p.Leu113=) | |
| 22 | g.42693613C>T | CA515071523 | A4GALT,CYB5R3 | c.-49+27184G>A (n.-49+27184G>A) c.339G>A (p.Leu113=) | |
| 22 | g.42693614A>C | CA411812542 | A4GALT,CYB5R3 | c.-49+27183T>G (n.-49+27183T>G) c.338T>G (p.Leu113Arg) | |
| 22 | g.42693614A>G | CA411812543 | A4GALT,CYB5R3 | c.-49+27183T>C (n.-49+27183T>C) c.338T>C (p.Leu113Pro) | |
| 22 | g.42693614A>T | CA411812544 | A4GALT,CYB5R3 | c.-49+27183T>A (n.-49+27183T>A) c.338T>A (p.Leu113Gln) | |
| 22 | g.42693615G>A | CA515071531 | A4GALT,CYB5R3 | c.-49+27182C>T (n.-49+27182C>T) c.337C>T (p.Leu113=) | dbSNP gnomAD v4 |
| 22 | g.42693615G>C | CA411812546 | A4GALT,CYB5R3 | c.-49+27182C>G (n.-49+27182C>G) c.337C>G (p.Leu113Val) | |
| 22 | g.42693615G= | CA2406870389 | A4GALT,CYB5R3 | c.-49+27182C= (n.-49+27182C=) c.337C= (p.Leu113=) | |
| 22 | g.42693615G>T | CA411812545 | A4GALT,CYB5R3 | c.-49+27182C>A (n.-49+27182C>A) c.337C>A (p.Leu113Met) | |
| 22 | g.42693616G>A | CA515071537 | A4GALT,CYB5R3 | c.-49+27181C>T (n.-49+27181C>T) c.336C>T (p.Val112=) | |
| 22 | g.42693616G>C | CA515071542 | A4GALT,CYB5R3 | c.-49+27181C>G (n.-49+27181C>G) c.336C>G (p.Val112=) | |
| 22 | g.42693616G>T | CA515071539 | A4GALT,CYB5R3 | c.-49+27181C>A (n.-49+27181C>A) c.336C>A (p.Val112=) | |
| 22 | g.42693617A>C | CA411812547 | A4GALT,CYB5R3 | c.-49+27180T>G (n.-49+27180T>G) c.335T>G (p.Val112Gly) | |
| 22 | g.42693617A>G | CA411812548 | A4GALT,CYB5R3 | c.-49+27180T>C (n.-49+27180T>C) c.335T>C (p.Val112Ala) | |
| 22 | g.42693617A>T | CA411812549 | A4GALT,CYB5R3 | c.-49+27180T>A (n.-49+27180T>A) c.335T>A (p.Val112Asp) | |
| 22 | g.42693618C>A | CA411812550 | A4GALT,CYB5R3 | c.-49+27179G>T (n.-49+27179G>T) c.334G>T (p.Val112Phe) | |
| 22 | g.42693618C= | CA2406870390 | A4GALT,CYB5R3 | c.-49+27179G= (n.-49+27179G=) c.334G= (p.Val112=) | |
| 22 | g.42693618C>G | CA324732419 | A4GALT,CYB5R3 | c.-49+27179G>C (n.-49+27179G>C) c.334G>C (p.Val112Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693618C>T | CA10270328 | A4GALT,CYB5R3 | c.-49+27179G>A (n.-49+27179G>A) c.334G>A (p.Val112Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693619C>A | CA515071569 | A4GALT,CYB5R3 | c.-49+27178G>T (n.-49+27178G>T) c.333G>T (p.Leu111=) | |
| 22 | g.42693619C= | CA2406870391 | A4GALT,CYB5R3 | c.-49+27178G= (n.-49+27178G=) c.333G= (p.Leu111=) | |
| 22 | g.42693619C>G | CA515071567 | A4GALT,CYB5R3 | c.-49+27178G>C (n.-49+27178G>C) c.333G>C (p.Leu111=) | |
| 22 | g.42693619C>T | CA515071554 | A4GALT,CYB5R3 | c.-49+27178G>A (n.-49+27178G>A) c.333G>A (p.Leu111=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693620A>C | CA411812551 | A4GALT,CYB5R3 | c.-49+27177T>G (n.-49+27177T>G) c.332T>G (p.Leu111Arg) | |
| 22 | g.42693620A>G | CA411812553 | A4GALT,CYB5R3 | c.-49+27177T>C (n.-49+27177T>C) c.332T>C (p.Leu111Pro) | |
| 22 | g.42693620A>T | CA411812552 | A4GALT,CYB5R3 | c.-49+27177T>A (n.-49+27177T>A) c.332T>A (p.Leu111Gln) | |
| 22 | g.42693621G>A | CA515071577 | A4GALT,CYB5R3 | c.-49+27176C>T (n.-49+27176C>T) c.331C>T (p.Leu111=) | |
| 22 | g.42693621G>C | CA411812554 | A4GALT,CYB5R3 | c.-49+27176C>G (n.-49+27176C>G) c.331C>G (p.Leu111Val) | |
| 22 | g.42693621G>T | CA411812555 | A4GALT,CYB5R3 | c.-49+27176C>A (n.-49+27176C>A) c.331C>A (p.Leu111Met) | |
| 22 | g.42693622C>A | CA515071582 | A4GALT,CYB5R3 | c.-49+27175G>T (n.-49+27175G>T) c.330G>T (p.Val110=) | |
| 22 | g.42693622C>G | CA515071586 | A4GALT,CYB5R3 | c.-49+27175G>C (n.-49+27175G>C) c.330G>C (p.Val110=) | |
| 22 | g.42693622C>T | CA515071584 | A4GALT,CYB5R3 | c.-49+27175G>A (n.-49+27175G>A) c.330G>A (p.Val110=) | |
| 22 | g.42693623A>C | CA411812556 | A4GALT,CYB5R3 | c.-49+27174T>G (n.-49+27174T>G) c.329T>G (p.Val110Gly) | |
| 22 | g.42693623A>G | CA411812557 | A4GALT,CYB5R3 | c.-49+27174T>C (n.-49+27174T>C) c.329T>C (p.Val110Ala) | |
| 22 | g.42693623A>T | CA411812558 | A4GALT,CYB5R3 | c.-49+27174T>A (n.-49+27174T>A) c.329T>A (p.Val110Glu) | |
| 22 | g.42693624C>A | CA411812560 | A4GALT,CYB5R3 | c.-49+27173G>T (n.-49+27173G>T) c.328G>T (p.Val110Leu) | dbSNP |
| 22 | g.42693624C= | CA2406870392 | A4GALT,CYB5R3 | c.-49+27173G= (n.-49+27173G=) c.328G= (p.Val110=) | |
| 22 | g.42693624C>G | CA411812559 | A4GALT,CYB5R3 | c.-49+27173G>C (n.-49+27173G>C) c.328G>C (p.Val110Leu) | |
| 22 | g.42693624C>T | CA10270329 | A4GALT,CYB5R3 | c.-49+27173G>A (n.-49+27173G>A) c.328G>A (p.Val110Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693625G>A | CA10270330 | A4GALT,CYB5R3 | c.-49+27172C>T (n.-49+27172C>T) c.327C>T (p.His109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693625G>C | CA324732426 | A4GALT,CYB5R3 | c.-49+27172C>G (n.-49+27172C>G) c.327C>G (p.His109Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693625G= | CA2406870393 | A4GALT,CYB5R3 | c.-49+27172C= (n.-49+27172C=) c.327C= (p.His109=) | |
| 22 | g.42693625G>T | CA411812561 | A4GALT,CYB5R3 | c.-49+27172C>A (n.-49+27172C>A) c.327C>A (p.His109Gln) | |
| 22 | g.42693626T>A | CA411812562 | A4GALT,CYB5R3 | c.-49+27171A>T (n.-49+27171A>T) c.326A>T (p.His109Leu) | |
| 22 | g.42693626T>C | CA411812563 | A4GALT,CYB5R3 | c.-49+27171A>G (n.-49+27171A>G) c.326A>G (p.His109Arg) | |
| 22 | g.42693626T>G | CA411812564 | A4GALT,CYB5R3 | c.-49+27171A>C (n.-49+27171A>C) c.326A>C (p.His109Pro) |