Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.42693101_42693103del | CA2577739305 | A4GALT,CYB5R3 | c.-49+27696_-49+27698del (n.-49+27696_-49+27698del) c.851_853del (p.Phe284del) | |
22 | g.42693100G>A | CA515071950 | A4GALT,CYB5R3 | c.-49+27697C>T (n.-49+27697C>T) c.852C>T (p.Phe284=) | |
22 | g.42693100G>C | CA411810535 | A4GALT,CYB5R3 | c.-49+27697C>G (n.-49+27697C>G) c.852C>G (p.Phe284Leu) | |
22 | g.42693100G>T | CA411810536 | A4GALT,CYB5R3 | c.-49+27697C>A (n.-49+27697C>A) c.852C>A (p.Phe284Leu) | |
22 | g.42693101A>C | CA411810539 | A4GALT,CYB5R3 | c.-49+27696T>G (n.-49+27696T>G) c.851T>G (p.Phe284Cys) | |
22 | g.42693101A>G | CA411810541 | A4GALT,CYB5R3 | c.-49+27696T>C (n.-49+27696T>C) c.851T>C (p.Phe284Ser) | gnomAD v4 |
22 | g.42693101A>T | CA411810543 | A4GALT,CYB5R3 | c.-49+27696T>A (n.-49+27696T>A) c.851T>A (p.Phe284Tyr) | |
22 | g.42693102A>C | CA411810545 | A4GALT,CYB5R3 | c.-49+27695T>G (n.-49+27695T>G) c.850T>G (p.Phe284Val) | |
22 | g.42693102A>G | CA411810547 | A4GALT,CYB5R3 | c.-49+27695T>C (n.-49+27695T>C) c.850T>C (p.Phe284Leu) | |
22 | g.42693102A>T | CA411810549 | A4GALT,CYB5R3 | c.-49+27695T>A (n.-49+27695T>A) c.850T>A (p.Phe284Ile) | gnomAD v4 |
22 | g.42693103G>A | CA324732159 | A4GALT,CYB5R3 | c.-49+27694C>T (n.-49+27694C>T) c.849C>T (p.Ala283=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42693103G>C | CA515071969 | A4GALT,CYB5R3 | c.-49+27694C>G (n.-49+27694C>G) c.849C>G (p.Ala283=) | |
22 | g.42693103G= | CA2406870114 | A4GALT,CYB5R3 | c.-49+27694C= (n.-49+27694C=) c.849C= (p.Ala283=) | |
22 | g.42693103G>T | CA515071972 | A4GALT,CYB5R3 | c.-49+27694C>A (n.-49+27694C>A) c.849C>A (p.Ala283=) | |
22 | g.42693104G>A | CA411810552 | A4GALT,CYB5R3 | c.-49+27693C>T (n.-49+27693C>T) c.848C>T (p.Ala283Val) | COSMIC |
22 | g.42693104G>C | CA411810554 | A4GALT,CYB5R3 | c.-49+27693C>G (n.-49+27693C>G) c.848C>G (p.Ala283Gly) | dbSNP gnomAD v4 |
22 | g.42693104G= | CA2406870115 | A4GALT,CYB5R3 | c.-49+27693C= (n.-49+27693C=) c.848C= (p.Ala283=) | |
22 | g.42693104G>T | CA411810555 | A4GALT,CYB5R3 | c.-49+27693C>A (n.-49+27693C>A) c.848C>A (p.Ala283Asp) | |
22 | g.42693105C>A | CA411810558 | A4GALT,CYB5R3 | c.-49+27692G>T (n.-49+27692G>T) c.847G>T (p.Ala283Ser) | |
22 | g.42693105C>G | CA411810562 | A4GALT,CYB5R3 | c.-49+27692G>C (n.-49+27692G>C) c.847G>C (p.Ala283Pro) | |
22 | g.42693105C>T | CA411810559 | A4GALT,CYB5R3 | c.-49+27692G>A (n.-49+27692G>A) c.847G>A (p.Ala283Thr) | |
22 | g.42693106C>A | CA411810564 | A4GALT,CYB5R3 | c.-49+27691G>T (n.-49+27691G>T) c.846G>T (p.Glu282Asp) | |
22 | g.42693106C>G | CA411810566 | A4GALT,CYB5R3 | c.-49+27691G>C (n.-49+27691G>C) c.846G>C (p.Glu282Asp) | |
22 | g.42693106C>T | CA515071987 | A4GALT,CYB5R3 | c.-49+27691G>A (n.-49+27691G>A) c.846G>A (p.Glu282=) | |
22 | g.42693107T>A | CA411810568 | A4GALT,CYB5R3 | c.-49+27690A>T (n.-49+27690A>T) c.845A>T (p.Glu282Val) | |
22 | g.42693107T>C | CA411810570 | A4GALT,CYB5R3 | c.-49+27690A>G (n.-49+27690A>G) c.845A>G (p.Glu282Gly) | |
22 | g.42693107T>G | CA411810573 | A4GALT,CYB5R3 | c.-49+27690A>C (n.-49+27690A>C) c.845A>C (p.Glu282Ala) | |
22 | g.42693108C>A | CA411810576 | A4GALT,CYB5R3 | c.-49+27689G>T (n.-49+27689G>T) c.844G>T (p.Glu282Ter) | |
22 | g.42693108C>G | CA411810577 | A4GALT,CYB5R3 | c.-49+27689G>C (n.-49+27689G>C) c.844G>C (p.Glu282Gln) | |
22 | g.42693108C>T | CA411810579 | A4GALT,CYB5R3 | c.-49+27689G>A (n.-49+27689G>A) c.844G>A (p.Glu282Lys) | |
22 | g.42693108_42693109delinsCA | CA2406870116 | A4GALT,CYB5R3 | c.-49+27688_-49+27689delinsTG (n.-49+27688_-49+27689delinsTG) c.843_844delinsTG (p.Pro281=) | |
22 | g.42693109del | CA639829274 | A4GALT,CYB5R3 | c.-49+27688del (n.-49+27688del) c.843del (p.Glu282ArgfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42693109A>C | CA515072005 | A4GALT,CYB5R3 | c.-49+27688T>G (n.-49+27688T>G) c.843T>G (p.Pro281=) | |
22 | g.42693109A>G | CA515072000 | A4GALT,CYB5R3 | c.-49+27688T>C (n.-49+27688T>C) c.843T>C (p.Pro281=) | |
22 | g.42693109A>T | CA515072002 | A4GALT,CYB5R3 | c.-49+27688T>A (n.-49+27688T>A) c.843T>A (p.Pro281=) | |
22 | g.42693110G>A | CA411810582 | A4GALT,CYB5R3 | c.-49+27687C>T (n.-49+27687C>T) c.842C>T (p.Pro281Leu) | gnomAD v4 COSMIC |
22 | g.42693110G>C | CA411810584 | A4GALT,CYB5R3 | c.-49+27687C>G (n.-49+27687C>G) c.842C>G (p.Pro281Arg) | |
22 | g.42693110G>T | CA411810586 | A4GALT,CYB5R3 | c.-49+27687C>A (n.-49+27687C>A) c.842C>A (p.Pro281His) | |
22 | g.42693110_42693111insTGTTGTTCATTTTTTGTTTGTTTTTCA | CA1025982031 | A4GALT,CYB5R3 | c.-49+27686_-49+27687insTGAAAAACAAACAAAAAATGAACAACA (n.-49+27686_-49+27687insTGAAAAACAAACAAAAAATGAACAACA) c.841_842insTGAAAAACAAACAAAAAATGAACAACA (p.Pro281delinsLeuLysAsnLysGlnLysMetAsnAsnThr) | gnomAD v3 gnomAD v4 |
22 | g.42693111G>A | CA411810591 | A4GALT,CYB5R3 | c.-49+27686C>T (n.-49+27686C>T) c.841C>T (p.Pro281Ser) | |
22 | g.42693111G>C | CA411810589 | A4GALT,CYB5R3 | c.-49+27686C>G (n.-49+27686C>G) c.841C>G (p.Pro281Ala) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.42693111G= | CA2406870117 | A4GALT,CYB5R3 | c.-49+27686C= (n.-49+27686C=) c.841C= (p.Pro281=) | |
22 | g.42693111G>T | CA411810588 | A4GALT,CYB5R3 | c.-49+27686C>A (n.-49+27686C>A) c.841C>A (p.Pro281Thr) | gnomAD v4 |
22 | g.42693112G>A | CA515072016 | A4GALT,CYB5R3 | c.-49+27685C>T (n.-49+27685C>T) c.840C>T (p.Pro280=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
22 | g.42693112G>C | CA515072018 | A4GALT,CYB5R3 | c.-49+27685C>G (n.-49+27685C>G) c.840C>G (p.Pro280=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.42693112G= | CA2406870118 | A4GALT,CYB5R3 | c.-49+27685C= (n.-49+27685C=) c.840C= (p.Pro280=) | |
22 | g.42693112G>T | CA515072019 | A4GALT,CYB5R3 | c.-49+27685C>A (n.-49+27685C>A) c.840C>A (p.Pro280=) | gnomAD v4 |
22 | g.42693112_42693113insAA | CA1025982032 | A4GALT,CYB5R3 | c.-49+27684_-49+27685insTT (n.-49+27684_-49+27685insTT) c.839_840insTT (p.Pro281SerfsTer?) | gnomAD v3 gnomAD v4 |
22 | g.42693112_42693113insTTGTTCATTTTTTGTTTGTTTTTCA | CA2657079297 | A4GALT,CYB5R3 | c.-49+27684_-49+27685insTGAAAAACAAACAAAAAATGAACAA (n.-49+27684_-49+27685insTGAAAAACAAACAAAAAATGAACAA) c.839_840insTGAAAAACAAACAAAAAATGAACAA (p.Pro281GlufsTer10) | gnomAD v4 |
22 | g.42693113G>A | CA411810592 | A4GALT,CYB5R3 | c.-49+27684C>T (n.-49+27684C>T) c.839C>T (p.Pro280Leu) | dbSNP gnomAD v2 |