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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.42693639G>A | CA411812592 | A4GALT,CYB5R3 | c.-49+27158C>T (n.-49+27158C>T) c.313C>T (p.His105Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693639G>C | CA411812593 | A4GALT,CYB5R3 | c.-49+27158C>G (n.-49+27158C>G) c.313C>G (p.His105Asp) | |
| 22 | g.42693639G= | CA2406870400 | A4GALT,CYB5R3 | c.-49+27158C= (n.-49+27158C=) c.313C= (p.His105=) | |
| 22 | g.42693639G>T | CA411812594 | A4GALT,CYB5R3 | c.-49+27158C>A (n.-49+27158C>A) c.313C>A (p.His105Asn) | gnomAD v4 |
| 22 | g.42693640A= | CA2406870401 | A4GALT,CYB5R3 | c.-49+27157T= (n.-49+27157T=) c.312T= (p.Thr104=) | |
| 22 | g.42693640A>C | CA515071663 | A4GALT,CYB5R3 | c.-49+27157T>G (n.-49+27157T>G) c.312T>G (p.Thr104=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693640A>G | CA515071665 | A4GALT,CYB5R3 | c.-49+27157T>C (n.-49+27157T>C) c.312T>C (p.Thr104=) | |
| 22 | g.42693640A>T | CA515071667 | A4GALT,CYB5R3 | c.-49+27157T>A (n.-49+27157T>A) c.312T>A (p.Thr104=) | gnomAD v4 |
| 22 | g.42693641G>A | CA411812595 | A4GALT,CYB5R3 | c.-49+27156C>T (n.-49+27156C>T) c.311C>T (p.Thr104Ile) | |
| 22 | g.42693641G>C | CA411812596 | A4GALT,CYB5R3 | c.-49+27156C>G (n.-49+27156C>G) c.311C>G (p.Thr104Ser) | |
| 22 | g.42693641G>T | CA411812597 | A4GALT,CYB5R3 | c.-49+27156C>A (n.-49+27156C>A) c.311C>A (p.Thr104Asn) | |
| 22 | g.42693642T>A | CA411812600 | A4GALT,CYB5R3 | c.-49+27155A>T (n.-49+27155A>T) c.310A>T (p.Thr104Ser) | dbSNP |
| 22 | g.42693642T>C | CA411812598 | A4GALT,CYB5R3 | c.-49+27155A>G (n.-49+27155A>G) c.310A>G (p.Thr104Ala) | |
| 22 | g.42693642T>G | CA411812599 | A4GALT,CYB5R3 | c.-49+27155A>C (n.-49+27155A>C) c.310A>C (p.Thr104Pro) | gnomAD v3 gnomAD v4 |
| 22 | g.42693643T>A | CA411812601 | A4GALT,CYB5R3 | c.-49+27154A>T (n.-49+27154A>T) c.309A>T (p.Arg103Ser) | |
| 22 | g.42693643T>C | CA515071685 | A4GALT,CYB5R3 | c.-49+27154A>G (n.-49+27154A>G) c.309A>G (p.Arg103=) | |
| 22 | g.42693643T>G | CA411812602 | A4GALT,CYB5R3 | c.-49+27154A>C (n.-49+27154A>C) c.309A>C (p.Arg103Ser) | |
| 22 | g.42693644C>A | CA411812603 | A4GALT,CYB5R3 | c.-49+27153G>T (n.-49+27153G>T) c.308G>T (p.Arg103Ile) | dbSNP |
| 22 | g.42693644C>G | CA411812604 | A4GALT,CYB5R3 | c.-49+27153G>C (n.-49+27153G>C) c.308G>C (p.Arg103Thr) | |
| 22 | g.42693644C>T | CA411812605 | A4GALT,CYB5R3 | c.-49+27153G>A (n.-49+27153G>A) c.308G>A (p.Arg103Lys) | |
| 22 | g.42693645T>A | CA411812606 | A4GALT,CYB5R3 | c.-49+27152A>T (n.-49+27152A>T) c.307A>T (p.Arg103Ter) | |
| 22 | g.42693645T>C | CA411812607 | A4GALT,CYB5R3 | c.-49+27152A>G (n.-49+27152A>G) c.307A>G (p.Arg103Gly) | dbSNP gnomAD v4 |
| 22 | g.42693645T>G | CA515071694 | A4GALT,CYB5R3 | c.-49+27152A>C (n.-49+27152A>C) c.307A>C (p.Arg103=) | dbSNP |
| 22 | g.42693645T= | CA2406870402 | A4GALT,CYB5R3 | c.-49+27152A= (n.-49+27152A=) c.307A= (p.Arg103=) | |
| 22 | g.42693646G>A | CA515071696 | A4GALT,CYB5R3 | c.-49+27151C>T (n.-49+27151C>T) c.306C>T (p.Ala102=) | gnomAD v4 |
| 22 | g.42693646G>C | CA10270332 | A4GALT,CYB5R3 | c.-49+27151C>G (n.-49+27151C>G) c.306C>G (p.Ala102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693646G= | CA2406870403 | A4GALT,CYB5R3 | c.-49+27151C= (n.-49+27151C=) c.306C= (p.Ala102=) | |
| 22 | g.42693646G>T | CA515071699 | A4GALT,CYB5R3 | c.-49+27151C>A (n.-49+27151C>A) c.306C>A (p.Ala102=) | |
| 22 | g.42693647G>A | CA411812608 | A4GALT,CYB5R3 | c.-49+27150C>T (n.-49+27150C>T) c.305C>T (p.Ala102Val) | |
| 22 | g.42693647G>C | CA411812609 | A4GALT,CYB5R3 | c.-49+27150C>G (n.-49+27150C>G) c.305C>G (p.Ala102Gly) | |
| 22 | g.42693647G>T | CA411812610 | A4GALT,CYB5R3 | c.-49+27150C>A (n.-49+27150C>A) c.305C>A (p.Ala102Asp) | |
| 22 | g.42693648C>A | CA10270333 | A4GALT,CYB5R3 | c.-49+27149G>T (n.-49+27149G>T) c.304G>T (p.Ala102Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693648C= | CA2406870404 | A4GALT,CYB5R3 | c.-49+27149G= (n.-49+27149G=) c.304G= (p.Ala102=) | |
| 22 | g.42693648C>G | CA411812612 | A4GALT,CYB5R3 | c.-49+27149G>C (n.-49+27149G>C) c.304G>C (p.Ala102Pro) | |
| 22 | g.42693648C>T | CA411812611 | A4GALT,CYB5R3 | c.-49+27149G>A (n.-49+27149G>A) c.304G>A (p.Ala102Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693649G>A | CA10270334 | A4GALT,CYB5R3 | c.-49+27148C>T (n.-49+27148C>T) c.303C>T (p.Ala101=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693649G>C | CA515071716 | A4GALT,CYB5R3 | c.-49+27148C>G (n.-49+27148C>G) c.303C>G (p.Ala101=) | |
| 22 | g.42693649G= | CA2406870405 | A4GALT,CYB5R3 | c.-49+27148C= (n.-49+27148C=) c.303C= (p.Ala101=) | |
| 22 | g.42693649G>T | CA515071725 | A4GALT,CYB5R3 | c.-49+27148C>A (n.-49+27148C>A) c.303C>A (p.Ala101=) | |
| 22 | g.42693650G>A | CA411812613 | A4GALT,CYB5R3 | c.-49+27147C>T (n.-49+27147C>T) c.302C>T (p.Ala101Val) | |
| 22 | g.42693650G>C | CA411812614 | A4GALT,CYB5R3 | c.-49+27147C>G (n.-49+27147C>G) c.302C>G (p.Ala101Gly) | |
| 22 | g.42693650G>T | CA411812615 | A4GALT,CYB5R3 | c.-49+27147C>A (n.-49+27147C>A) c.302C>A (p.Ala101Asp) | |
| 22 | g.42693650_42693651delinsGC | CA2406870406 | A4GALT,CYB5R3 | c.-49+27146_-49+27147delinsGC (n.-49+27146_-49+27147delinsGC) c.301_302delinsGC (p.Ala101=) | |
| 22 | g.42693651C>A | CA411812616 | A4GALT,CYB5R3 | c.-49+27146G>T (n.-49+27146G>T) c.301G>T (p.Ala101Ser) | |
| 22 | g.42693651C>G | CA411812617 | A4GALT,CYB5R3 | c.-49+27146G>C (n.-49+27146G>C) c.301G>C (p.Ala101Pro) | |
| 22 | g.42693651C>T | CA411812618 | A4GALT,CYB5R3 | c.-49+27146G>A (n.-49+27146G>A) c.301G>A (p.Ala101Thr) | |
| 22 | g.42693652del | CA639829280 | A4GALT,CYB5R3 | c.-49+27146del (n.-49+27146del) c.301del (p.Ala101ProfsTer13) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693652C>A | CA515071750 | A4GALT,CYB5R3 | c.-49+27145G>T (n.-49+27145G>T) c.300G>T (p.Ser100=) | gnomAD v4 |
| 22 | g.42693652C= | CA2406870407 | A4GALT,CYB5R3 | c.-49+27145G= (n.-49+27145G=) c.300G= (p.Ser100=) | |
| 22 | g.42693652C>G | CA10270335 | A4GALT,CYB5R3 | c.-49+27145G>C (n.-49+27145G>C) c.300G>C (p.Ser100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693652C>T | CA10270336 | A4GALT,CYB5R3 | c.-49+27145G>A (n.-49+27145G>A) c.300G>A (p.Ser100=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693653G>A | CA10270337 | A4GALT,CYB5R3 | c.-49+27144C>T (n.-49+27144C>T) c.299C>T (p.Ser100Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693653G>C | CA411812619 | A4GALT,CYB5R3 | c.-49+27144C>G (n.-49+27144C>G) c.299C>G (p.Ser100Trp) | |
| 22 | g.42693653G= | CA2406870408 | A4GALT,CYB5R3 | c.-49+27144C= (n.-49+27144C=) c.299C= (p.Ser100=) | |
| 22 | g.42693653G>T | CA411812620 | A4GALT,CYB5R3 | c.-49+27144C>A (n.-49+27144C>A) c.299C>A (p.Ser100Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693654A>C | CA411812622 | A4GALT,CYB5R3 | c.-49+27143T>G (n.-49+27143T>G) c.298T>G (p.Ser100Ala) | |
| 22 | g.42693654A>G | CA411812623 | A4GALT,CYB5R3 | c.-49+27143T>C (n.-49+27143T>C) c.298T>C (p.Ser100Pro) | gnomAD v4 |
| 22 | g.42693654A>T | CA411812621 | A4GALT,CYB5R3 | c.-49+27143T>A (n.-49+27143T>A) c.298T>A (p.Ser100Thr) | |
| 22 | g.42693655del | CA2577739312 | A4GALT,CYB5R3 | c.-49+27142del (n.-49+27142del) c.297del (p.Glu99AspfsTer15) | gnomAD v4 |
| 22 | g.42693655C>A | CA411812624 | A4GALT,CYB5R3 | c.-49+27142G>T (n.-49+27142G>T) c.297G>T (p.Glu99Asp) | |
| 22 | g.42693655C= | CA2406870409 | A4GALT,CYB5R3 | c.-49+27142G= (n.-49+27142G=) c.297G= (p.Glu99=) | |
| 22 | g.42693655C>G | CA411812625 | A4GALT,CYB5R3 | c.-49+27142G>C (n.-49+27142G>C) c.297G>C (p.Glu99Asp) | dbSNP |
| 22 | g.42693655C>T | CA515071766 | A4GALT,CYB5R3 | c.-49+27142G>A (n.-49+27142G>A) c.297G>A (p.Glu99=) | |
| 22 | g.42693656T>A | CA411812626 | A4GALT,CYB5R3 | c.-49+27141A>T (n.-49+27141A>T) c.296A>T (p.Glu99Val) | |
| 22 | g.42693656T>C | CA411812627 | A4GALT,CYB5R3 | c.-49+27141A>G (n.-49+27141A>G) c.296A>G (p.Glu99Gly) | |
| 22 | g.42693656T>G | CA411812628 | A4GALT,CYB5R3 | c.-49+27141A>C (n.-49+27141A>C) c.296A>C (p.Glu99Ala) | |
| 22 | g.42693657C>A | CA411812631 | A4GALT,CYB5R3 | c.-49+27140G>T (n.-49+27140G>T) c.295G>T (p.Glu99Ter) | |
| 22 | g.42693657C>G | CA411812629 | A4GALT,CYB5R3 | c.-49+27140G>C (n.-49+27140G>C) c.295G>C (p.Glu99Gln) | |
| 22 | g.42693657C>T | CA411812630 | A4GALT,CYB5R3 | c.-49+27140G>A (n.-49+27140G>A) c.295G>A (p.Glu99Lys) | |
| 22 | g.42693658C>A | CA515071775 | A4GALT,CYB5R3 | c.-49+27139G>T (n.-49+27139G>T) c.294G>T (p.Val98=) | |
| 22 | g.42693658C= | CA2406870410 | A4GALT,CYB5R3 | c.-49+27139G= (n.-49+27139G=) c.294G= (p.Val98=) | |
| 22 | g.42693658C>G | CA515071776 | A4GALT,CYB5R3 | c.-49+27139G>C (n.-49+27139G>C) c.294G>C (p.Val98=) | |
| 22 | g.42693658C>T | CA515071778 | A4GALT,CYB5R3 | c.-49+27139G>A (n.-49+27139G>A) c.294G>A (p.Val98=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693659A= | CA2406870411 | A4GALT,CYB5R3 | c.-49+27138T= (n.-49+27138T=) c.293T= (p.Val98=) | |
| 22 | g.42693659A>C | CA411812632 | A4GALT,CYB5R3 | c.-49+27138T>G (n.-49+27138T>G) c.293T>G (p.Val98Gly) | |
| 22 | g.42693659A>G | CA411812633 | A4GALT,CYB5R3 | c.-49+27138T>C (n.-49+27138T>C) c.293T>C (p.Val98Ala) | dbSNP gnomAD v4 |
| 22 | g.42693659A>T | CA411812634 | A4GALT,CYB5R3 | c.-49+27138T>A (n.-49+27138T>A) c.293T>A (p.Val98Glu) | |
| 22 | g.42693660C>A | CA411812635 | A4GALT,CYB5R3 | c.-49+27137G>T (n.-49+27137G>T) c.292G>T (p.Val98Leu) | |
| 22 | g.42693660C>G | CA411812636 | A4GALT,CYB5R3 | c.-49+27137G>C (n.-49+27137G>C) c.292G>C (p.Val98Leu) | |
| 22 | g.42693660C>T | CA411812637 | A4GALT,CYB5R3 | c.-49+27137G>A (n.-49+27137G>A) c.292G>A (p.Val98Met) | gnomAD v4 |
| 22 | g.42693661C>A | CA10270339 | A4GALT,CYB5R3 | c.-49+27136G>T (n.-49+27136G>T) c.291G>T (p.Ser97=) | dbSNP ExAC gnomAD v2 |
| 22 | g.42693661C= | CA2406870412 | A4GALT,CYB5R3 | c.-49+27136G= (n.-49+27136G=) c.291G= (p.Ser97=) | |
| 22 | g.42693661C>G | CA515071793 | A4GALT,CYB5R3 | c.-49+27136G>C (n.-49+27136G>C) c.291G>C (p.Ser97=) | gnomAD v4 |
| 22 | g.42693661C>T | CA10270338 | A4GALT,CYB5R3 | c.-49+27136G>A (n.-49+27136G>A) c.291G>A (p.Ser97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693662G>A | CA10270340 | A4GALT,CYB5R3 | c.-49+27135C>T (n.-49+27135C>T) c.290C>T (p.Ser97Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693662G>C | CA411812639 | A4GALT,CYB5R3 | c.-49+27135C>G (n.-49+27135C>G) c.290C>G (p.Ser97Trp) | gnomAD v4 |
| 22 | g.42693662G= | CA2406870413 | A4GALT,CYB5R3 | c.-49+27135C= (n.-49+27135C=) c.290C= (p.Ser97=) | |
| 22 | g.42693662G>T | CA411812638 | A4GALT,CYB5R3 | c.-49+27135C>A (n.-49+27135C>A) c.290C>A (p.Ser97Ter) | |
| 22 | g.42693663A= | CA2406870414 | A4GALT,CYB5R3 | c.-49+27134T= (n.-49+27134T=) c.289T= (p.Ser97=) | |
| 22 | g.42693663A>C | CA324732450 | A4GALT,CYB5R3 | c.-49+27134T>G (n.-49+27134T>G) c.289T>G (p.Ser97Ala) | dbSNP gnomAD v4 |
| 22 | g.42693663A>G | CA411812640 | A4GALT,CYB5R3 | c.-49+27134T>C (n.-49+27134T>C) c.289T>C (p.Ser97Pro) | |
| 22 | g.42693663A>T | CA411812641 | A4GALT,CYB5R3 | c.-49+27134T>A (n.-49+27134T>A) c.289T>A (p.Ser97Thr) | |
| 22 | g.42693664G>A | CA515071808 | A4GALT,CYB5R3 | c.-49+27133C>T (n.-49+27133C>T) c.288C>T (p.Cys96=) | COSMIC |
| 22 | g.42693664G>C | CA411812642 | A4GALT,CYB5R3 | c.-49+27133C>G (n.-49+27133C>G) c.288C>G (p.Cys96Trp) | |
| 22 | g.42693664G>T | CA411812643 | A4GALT,CYB5R3 | c.-49+27133C>A (n.-49+27133C>A) c.288C>A (p.Cys96Ter) | |
| 22 | g.42693665C>A | CA411812644 | A4GALT,CYB5R3 | c.-49+27132G>T (n.-49+27132G>T) c.287G>T (p.Cys96Phe) | dbSNP |
| 22 | g.42693665C= | CA2406870415 | A4GALT,CYB5R3 | c.-49+27132G= (n.-49+27132G=) c.287G= (p.Cys96=) | |
| 22 | g.42693665C>G | CA411812645 | A4GALT,CYB5R3 | c.-49+27132G>C (n.-49+27132G>C) c.287G>C (p.Cys96Ser) | |
| 22 | g.42693665C>T | CA10270341 | A4GALT,CYB5R3 | c.-49+27132G>A (n.-49+27132G>A) c.287G>A (p.Cys96Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693666A>C | CA411812646 | A4GALT,CYB5R3 | c.-49+27131T>G (n.-49+27131T>G) c.286T>G (p.Cys96Gly) | |
| 22 | g.42693666A>G | CA411812647 | A4GALT,CYB5R3 | c.-49+27131T>C (n.-49+27131T>C) c.286T>C (p.Cys96Arg) | |
| 22 | g.42693666A>T | CA411812648 | A4GALT,CYB5R3 | c.-49+27131T>A (n.-49+27131T>A) c.286T>A (p.Cys96Ser) | |
| 22 | g.42693667C>A | CA411812651 | A4GALT,CYB5R3 | c.-49+27130G>T (n.-49+27130G>T) c.285G>T (p.Met95Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693667C= | CA2406870416 | A4GALT,CYB5R3 | c.-49+27130G= (n.-49+27130G=) c.285G= (p.Met95=) | |
| 22 | g.42693667C>G | CA411812649 | A4GALT,CYB5R3 | c.-49+27130G>C (n.-49+27130G>C) c.285G>C (p.Met95Ile) | |
| 22 | g.42693667C>T | CA411812650 | A4GALT,CYB5R3 | c.-49+27130G>A (n.-49+27130G>A) c.285G>A (p.Met95Ile) | |
| 22 | g.42693668A= | CA2406870417 | A4GALT,CYB5R3 | c.-49+27129T= (n.-49+27129T=) c.284T= (p.Met95=) | |
| 22 | g.42693668A>C | CA411812652 | A4GALT,CYB5R3 | c.-49+27129T>G (n.-49+27129T>G) c.284T>G (p.Met95Arg) | |
| 22 | g.42693668A>G | CA411812653 | A4GALT,CYB5R3 | c.-49+27129T>C (n.-49+27129T>C) c.284T>C (p.Met95Thr) | dbSNP gnomAD v4 |
| 22 | g.42693668A>T | CA411812654 | A4GALT,CYB5R3 | c.-49+27129T>A (n.-49+27129T>A) c.284T>A (p.Met95Lys) | |
| 22 | g.42693669T>A | CA411812655 | A4GALT,CYB5R3 | c.-49+27128A>T (n.-49+27128A>T) c.283A>T (p.Met95Leu) | |
| 22 | g.42693669T>C | CA411812656 | A4GALT,CYB5R3 | c.-49+27128A>G (n.-49+27128A>G) c.283A>G (p.Met95Val) | |
| 22 | g.42693669T>G | CA411812657 | A4GALT,CYB5R3 | c.-49+27128A>C (n.-49+27128A>C) c.283A>C (p.Met95Leu) | |
| 22 | g.42693670G>A | CA515071830 | A4GALT,CYB5R3 | c.-49+27127C>T (n.-49+27127C>T) c.282C>T (p.Phe94=) | |
| 22 | g.42693670G>C | CA411812658 | A4GALT,CYB5R3 | c.-49+27127C>G (n.-49+27127C>G) c.282C>G (p.Phe94Leu) | |
| 22 | g.42693670G>T | CA411812659 | A4GALT,CYB5R3 | c.-49+27127C>A (n.-49+27127C>A) c.282C>A (p.Phe94Leu) | |
| 22 | g.42693671A>C | CA411812660 | A4GALT,CYB5R3 | c.-49+27126T>G (n.-49+27126T>G) c.281T>G (p.Phe94Cys) | |
| 22 | g.42693671A>G | CA411812661 | A4GALT,CYB5R3 | c.-49+27126T>C (n.-49+27126T>C) c.281T>C (p.Phe94Ser) | |
| 22 | g.42693671A>T | CA411812662 | A4GALT,CYB5R3 | c.-49+27126T>A (n.-49+27126T>A) c.281T>A (p.Phe94Tyr) | |
| 22 | g.42693672A>C | CA411812664 | A4GALT,CYB5R3 | c.-49+27125T>G (n.-49+27125T>G) c.280T>G (p.Phe94Val) | |
| 22 | g.42693672A>G | CA411812665 | A4GALT,CYB5R3 | c.-49+27125T>C (n.-49+27125T>C) c.280T>C (p.Phe94Leu) | |
| 22 | g.42693672A>T | CA411812663 | A4GALT,CYB5R3 | c.-49+27125T>A (n.-49+27125T>A) c.280T>A (p.Phe94Ile) | |
| 22 | g.42693673C>A | CA515071853 | A4GALT,CYB5R3 | c.-49+27124G>T (n.-49+27124G>T) c.279G>T (p.Leu93=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693673C= | CA2406870418 | A4GALT,CYB5R3 | c.-49+27124G= (n.-49+27124G=) c.279G= (p.Leu93=) | |
| 22 | g.42693673C>G | CA515071850 | A4GALT,CYB5R3 | c.-49+27124G>C (n.-49+27124G>C) c.279G>C (p.Leu93=) | |
| 22 | g.42693673C>T | CA10270342 | A4GALT,CYB5R3 | c.-49+27124G>A (n.-49+27124G>A) c.279G>A (p.Leu93=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693674A= | CA2406870420 | A4GALT,CYB5R3 | c.-49+27123T= (n.-49+27123T=) c.278T= (p.Leu93=) | |
| 22 | g.42693674A>C | CA411812666 | A4GALT,CYB5R3 | c.-49+27123T>G (n.-49+27123T>G) c.278T>G (p.Leu93Arg) | |
| 22 | g.42693674A>G | CA411812667 | A4GALT,CYB5R3 | c.-49+27123T>C (n.-49+27123T>C) c.278T>C (p.Leu93Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693674A>T | CA411812668 | A4GALT,CYB5R3 | c.-49+27123T>A (n.-49+27123T>A) c.278T>A (p.Leu93Gln) | |
| 22 | g.42693674_42693675delinsAG | CA2406870419 | A4GALT,CYB5R3 | c.-49+27122_-49+27123delinsCT (n.-49+27122_-49+27123delinsCT) c.277_278delinsCT (p.Leu93=) | |
| 22 | g.42693675G>A | CA10270345 | A4GALT,CYB5R3 | c.-49+27122C>T (n.-49+27122C>T) c.277C>T (p.Leu93=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693675G>C | CA411812669 | A4GALT,CYB5R3 | c.-49+27122C>G (n.-49+27122C>G) c.277C>G (p.Leu93Val) | |
| 22 | g.42693675G= | CA2406870421 | A4GALT,CYB5R3 | c.-49+27122C= (n.-49+27122C=) c.277C= (p.Leu93=) | |
| 22 | g.42693675G>T | CA10270344 | A4GALT,CYB5R3 | c.-49+27122C>A (n.-49+27122C>A) c.277C>A (p.Leu93Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693676del | CA10270343 | A4GALT,CYB5R3 | c.-49+27122del (n.-49+27122del) c.277del (p.Leu93CysfsTer21) | dbSNP ExAC gnomAD v2 |
| 22 | g.42693676G>A | CA515071864 | A4GALT,CYB5R3 | c.-49+27121C>T (n.-49+27121C>T) c.276C>T (p.Phe92=) | dbSNP gnomAD v4 |
| 22 | g.42693676G>C | CA411812670 | A4GALT,CYB5R3 | c.-49+27121C>G (n.-49+27121C>G) c.276C>G (p.Phe92Leu) | |
| 22 | g.42693676G= | CA2406870422 | A4GALT,CYB5R3 | c.-49+27121C= (n.-49+27121C=) c.276C= (p.Phe92=) | |
| 22 | g.42693676G>T | CA411812671 | A4GALT,CYB5R3 | c.-49+27121C>A (n.-49+27121C>A) c.276C>A (p.Phe92Leu) | gnomAD v4 |
| 22 | g.42693677A>C | CA411812672 | A4GALT,CYB5R3 | c.-49+27120T>G (n.-49+27120T>G) c.275T>G (p.Phe92Cys) | |
| 22 | g.42693677A>G | CA411812673 | A4GALT,CYB5R3 | c.-49+27120T>C (n.-49+27120T>C) c.275T>C (p.Phe92Ser) | |
| 22 | g.42693677A>T | CA411812674 | A4GALT,CYB5R3 | c.-49+27120T>A (n.-49+27120T>A) c.275T>A (p.Phe92Tyr) | |
| 22 | g.42693678A>C | CA411812677 | A4GALT,CYB5R3 | c.-49+27119T>G (n.-49+27119T>G) c.274T>G (p.Phe92Val) | |
| 22 | g.42693678A>G | CA411812676 | A4GALT,CYB5R3 | c.-49+27119T>C (n.-49+27119T>C) c.274T>C (p.Phe92Leu) | |
| 22 | g.42693678A>T | CA411812675 | A4GALT,CYB5R3 | c.-49+27119T>A (n.-49+27119T>A) c.274T>A (p.Phe92Ile) | gnomAD v4 |
| 22 | g.42693679G>A | CA515071880 | A4GALT,CYB5R3 | c.-49+27118C>T (n.-49+27118C>T) c.273C>T (p.Asn91=) | |
| 22 | g.42693679G>C | CA411812678 | A4GALT,CYB5R3 | c.-49+27118C>G (n.-49+27118C>G) c.273C>G (p.Asn91Lys) | |
| 22 | g.42693679G= | CA2406870423 | A4GALT,CYB5R3 | c.-49+27118C= (n.-49+27118C=) c.273C= (p.Asn91=) | |
| 22 | g.42693679G>T | CA411812679 | A4GALT,CYB5R3 | c.-49+27118C>A (n.-49+27118C>A) c.273C>A (p.Asn91Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693679_42693680delinsGT | CA2406870424 | A4GALT,CYB5R3 | c.-49+27117_-49+27118delinsAC (n.-49+27117_-49+27118delinsAC) c.272_273delinsAC (p.Asn91=) | |
| 22 | g.42693680T>A | CA411812680 | A4GALT,CYB5R3 | c.-49+27117A>T (n.-49+27117A>T) c.272A>T (p.Asn91Ile) | gnomAD v4 |
| 22 | g.42693680T>C | CA10270346 | A4GALT,CYB5R3 | c.-49+27117A>G (n.-49+27117A>G) c.272A>G (p.Asn91Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693680T>G | CA411812681 | A4GALT,CYB5R3 | c.-49+27117A>C (n.-49+27117A>C) c.272A>C (p.Asn91Thr) | gnomAD v3 gnomAD v4 |
| 22 | g.42693680T= | CA2406870426 | A4GALT,CYB5R3 | c.-49+27117A= (n.-49+27117A=) c.272A= (p.Asn91=) | |
| 22 | g.42693681del | CA2406870425 | A4GALT,CYB5R3 | c.-49+27117del (n.-49+27117del) c.272del (p.Asn91ThrfsTer23) | dbSNP |
| 22 | g.42693681T>A | CA411812682 | A4GALT,CYB5R3 | c.-49+27116A>T (n.-49+27116A>T) c.271A>T (p.Asn91Tyr) | |
| 22 | g.42693681T>C | CA411812683 | A4GALT,CYB5R3 | c.-49+27116A>G (n.-49+27116A>G) c.271A>G (p.Asn91Asp) | gnomAD v4 |
| 22 | g.42693681T>G | CA411812684 | A4GALT,CYB5R3 | c.-49+27116A>C (n.-49+27116A>C) c.271A>C (p.Asn91His) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693681T= | CA2406870427 | A4GALT,CYB5R3 | c.-49+27116A= (n.-49+27116A=) c.271A= (p.Asn91=) | |
| 22 | g.42693682G>A | CA515071911 | A4GALT,CYB5R3 | c.-49+27115C>T (n.-49+27115C>T) c.270C>T (p.Pro90=) | dbSNP gnomAD v4 |
| 22 | g.42693682G>C | CA515071922 | A4GALT,CYB5R3 | c.-49+27115C>G (n.-49+27115C>G) c.270C>G (p.Pro90=) | |
| 22 | g.42693682G= | CA2406870428 | A4GALT,CYB5R3 | c.-49+27115C= (n.-49+27115C=) c.270C= (p.Pro90=) | |
| 22 | g.42693682G>T | CA10270347 | A4GALT,CYB5R3 | c.-49+27115C>A (n.-49+27115C>A) c.270C>A (p.Pro90=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693683G>A | CA411812685 | A4GALT,CYB5R3 | c.-49+27114C>T (n.-49+27114C>T) c.269C>T (p.Pro90Leu) | dbSNP gnomAD v2 |
| 22 | g.42693683G>C | CA411812686 | A4GALT,CYB5R3 | c.-49+27114C>G (n.-49+27114C>G) c.269C>G (p.Pro90Arg) | |
| 22 | g.42693683G= | CA2406870429 | A4GALT,CYB5R3 | c.-49+27114C= (n.-49+27114C=) c.269C= (p.Pro90=) | |
| 22 | g.42693683G>T | CA411812687 | A4GALT,CYB5R3 | c.-49+27114C>A (n.-49+27114C>A) c.269C>A (p.Pro90His) | ClinVar gnomAD v4 |
| 22 | g.42693684G>A | CA411812690 | A4GALT,CYB5R3 | c.-49+27113C>T (n.-49+27113C>T) c.268C>T (p.Pro90Ser) | |
| 22 | g.42693684G>C | CA411812689 | A4GALT,CYB5R3 | c.-49+27113C>G (n.-49+27113C>G) c.268C>G (p.Pro90Ala) | |
| 22 | g.42693684G>T | CA411812688 | A4GALT,CYB5R3 | c.-49+27113C>A (n.-49+27113C>A) c.268C>A (p.Pro90Thr) | |
| 22 | g.42693685G>A | CA515071938 | A4GALT,CYB5R3 | c.-49+27112C>T (n.-49+27112C>T) c.267C>T (p.Asn89=) | |
| 22 | g.42693685G>C | CA411812691 | A4GALT,CYB5R3 | c.-49+27112C>G (n.-49+27112C>G) c.267C>G (p.Asn89Lys) | |
| 22 | g.42693685G>T | CA411812692 | A4GALT,CYB5R3 | c.-49+27112C>A (n.-49+27112C>A) c.267C>A (p.Asn89Lys) | |
| 22 | g.42693685_42693687delinsGTT | CA2406870430 | A4GALT,CYB5R3 | c.-49+27110_-49+27112delinsAAC (n.-49+27110_-49+27112delinsAAC) c.265_267delinsAAC (p.Asn89=) | |
| 22 | g.42693686T>A | CA411812693 | A4GALT,CYB5R3 | c.-49+27111A>T (n.-49+27111A>T) c.266A>T (p.Asn89Ile) | gnomAD v4 |
| 22 | g.42693686T>C | CA411812695 | A4GALT,CYB5R3 | c.-49+27111A>G (n.-49+27111A>G) c.266A>G (p.Asn89Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693686T>G | CA411812694 | A4GALT,CYB5R3 | c.-49+27111A>C (n.-49+27111A>C) c.266A>C (p.Asn89Thr) | gnomAD v3 gnomAD v4 |
| 22 | g.42693686T= | CA2406870431 | A4GALT,CYB5R3 | c.-49+27111A= (n.-49+27111A=) c.266A= (p.Asn89=) | |
| 22 | g.42693686_42693687del | CA1025982033 | A4GALT,CYB5R3 | c.-49+27110_-49+27111del (n.-49+27110_-49+27111del) c.265_266del (p.Asn89ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693687T>A | CA411812696 | A4GALT,CYB5R3 | c.-49+27110A>T (n.-49+27110A>T) c.265A>T (p.Asn89Tyr) | |
| 22 | g.42693687T>C | CA411812697 | A4GALT,CYB5R3 | c.-49+27110A>G (n.-49+27110A>G) c.265A>G (p.Asn89Asp) | |
| 22 | g.42693687T>G | CA411812698 | A4GALT,CYB5R3 | c.-49+27110A>C (n.-49+27110A>C) c.265A>C (p.Asn89His) | |
| 22 | g.42693688G>A | CA515071958 | A4GALT,CYB5R3 | c.-49+27109C>T (n.-49+27109C>T) c.264C>T (p.Thr88=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693688G>C | CA515071960 | A4GALT,CYB5R3 | c.-49+27109C>G (n.-49+27109C>G) c.264C>G (p.Thr88=) | |
| 22 | g.42693688G= | CA2406870432 | A4GALT,CYB5R3 | c.-49+27109C= (n.-49+27109C=) c.264C= (p.Thr88=) | |
| 22 | g.42693688G>T | CA515071956 | A4GALT,CYB5R3 | c.-49+27109C>A (n.-49+27109C>A) c.264C>A (p.Thr88=) | |
| 22 | g.42693689G>A | CA411812699 | A4GALT,CYB5R3 | c.-49+27108C>T (n.-49+27108C>T) c.263C>T (p.Thr88Ile) | dbSNP gnomAD v4 |
| 22 | g.42693689G>C | CA10270348 | A4GALT,CYB5R3 | c.-49+27108C>G (n.-49+27108C>G) c.263C>G (p.Thr88Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693689G= | CA2406870433 | A4GALT,CYB5R3 | c.-49+27108C= (n.-49+27108C=) c.263C= (p.Thr88=) | |
| 22 | g.42693689G>T | CA411812700 | A4GALT,CYB5R3 | c.-49+27108C>A (n.-49+27108C>A) c.263C>A (p.Thr88Asn) | |
| 22 | g.42693690T>A | CA411812701 | A4GALT,CYB5R3 | c.-49+27107A>T (n.-49+27107A>T) c.262A>T (p.Thr88Ser) | |
| 22 | g.42693690T>C | CA411812702 | A4GALT,CYB5R3 | c.-49+27107A>G (n.-49+27107A>G) c.262A>G (p.Thr88Ala) | |
| 22 | g.42693690T>G | CA411812703 | A4GALT,CYB5R3 | c.-49+27107A>C (n.-49+27107A>C) c.262A>C (p.Thr88Pro) | |
| 22 | g.42693690_42693729del | CA1025982034 | A4GALT,CYB5R3 | c.-49+27068_-49+27107del (n.-49+27068_-49+27107del) c.223_262del (p.Thr75ProfsTer26) | gnomAD v3 gnomAD v4 |
| 22 | g.42693691C>A | CA515071714 | A4GALT,CYB5R3 | c.-49+27106G>T (n.-49+27106G>T) c.261G>T (p.Arg87=) | gnomAD v4 |
| 22 | g.42693691C>G | CA515071717 | A4GALT,CYB5R3 | c.-49+27106G>C (n.-49+27106G>C) c.261G>C (p.Arg87=) | |
| 22 | g.42693691C>T | CA515071720 | A4GALT,CYB5R3 | c.-49+27106G>A (n.-49+27106G>A) c.261G>A (p.Arg87=) | |
| 22 | g.42693692C>A | CA10270350 | A4GALT,CYB5R3 | c.-49+27105G>T (n.-49+27105G>T) c.260G>T (p.Arg87Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693692C= | CA2406870434 | A4GALT,CYB5R3 | c.-49+27105G= (n.-49+27105G=) c.260G= (p.Arg87=) | |
| 22 | g.42693692C>G | CA411812704 | A4GALT,CYB5R3 | c.-49+27105G>C (n.-49+27105G>C) c.260G>C (p.Arg87Pro) | |
| 22 | g.42693692C>T | CA10270349 | A4GALT,CYB5R3 | c.-49+27105G>A (n.-49+27105G>A) c.260G>A (p.Arg87Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693693G>A | CA10270351 | A4GALT,CYB5R3 | c.-49+27104C>T (n.-49+27104C>T) c.259C>T (p.Arg87Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693693G>C | CA411812705 | A4GALT,CYB5R3 | c.-49+27104C>G (n.-49+27104C>G) c.259C>G (p.Arg87Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693693G= | CA2406870435 | A4GALT,CYB5R3 | c.-49+27104C= (n.-49+27104C=) c.259C= (p.Arg87=) | |
| 22 | g.42693693G>T | CA515071723 | A4GALT,CYB5R3 | c.-49+27104C>A (n.-49+27104C>A) c.259C>A (p.Arg87=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693694G>A | CA10270352 | A4GALT,CYB5R3 | c.-49+27103C>T (n.-49+27103C>T) c.258C>T (p.Asp86=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693694G>C | CA411812706 | A4GALT,CYB5R3 | c.-49+27103C>G (n.-49+27103C>G) c.258C>G (p.Asp86Glu) | |
| 22 | g.42693694G= | CA2406870436 | A4GALT,CYB5R3 | c.-49+27103C= (n.-49+27103C=) c.258C= (p.Asp86=) | |
| 22 | g.42693694G>T | CA411812707 | A4GALT,CYB5R3 | c.-49+27103C>A (n.-49+27103C>A) c.258C>A (p.Asp86Glu) | |
| 22 | g.42693698_42693704dup | CA2657079027 | A4GALT,CYB5R3 | c.-49+27097_-49+27103dup (n.-49+27097_-49+27103dup) c.252_258dup (p.Arg87PhefsTer?) | gnomAD v4 |
| 22 | g.42693695T>A | CA411812708 | A4GALT,CYB5R3 | c.-49+27102A>T (n.-49+27102A>T) c.257A>T (p.Asp86Val) | |
| 22 | g.42693695T>C | CA411812709 | A4GALT,CYB5R3 | c.-49+27102A>G (n.-49+27102A>G) c.257A>G (p.Asp86Gly) | dbSNP |
| 22 | g.42693695T>G | CA411812710 | A4GALT,CYB5R3 | c.-49+27102A>C (n.-49+27102A>C) c.257A>C (p.Asp86Ala) | |
| 22 | g.42693695T= | CA2406870437 | A4GALT,CYB5R3 | c.-49+27102A= (n.-49+27102A=) c.257A= (p.Asp86=) | |
| 22 | g.42693696C>A | CA411812711 | A4GALT,CYB5R3 | c.-49+27101G>T (n.-49+27101G>T) c.256G>T (p.Asp86Tyr) | gnomAD v4 |
| 22 | g.42693696C>G | CA411812712 | A4GALT,CYB5R3 | c.-49+27101G>C (n.-49+27101G>C) c.256G>C (p.Asp86His) | |
| 22 | g.42693696C>T | CA411812713 | A4GALT,CYB5R3 | c.-49+27101G>A (n.-49+27101G>A) c.256G>A (p.Asp86Asn) | |
| 22 | g.42693697T>A | CA515071740 | A4GALT,CYB5R3 | c.-49+27100A>T (n.-49+27100A>T) c.255A>T (p.Ser85=) | |
| 22 | g.42693697T>C | CA515071742 | A4GALT,CYB5R3 | c.-49+27100A>G (n.-49+27100A>G) c.255A>G (p.Ser85=) | |
| 22 | g.42693697T>G | CA515071743 | A4GALT,CYB5R3 | c.-49+27100A>C (n.-49+27100A>C) c.255A>C (p.Ser85=) | |
| 22 | g.42693698G>A | CA10270353 | A4GALT,CYB5R3 | c.-49+27099C>T (n.-49+27099C>T) c.254C>T (p.Ser85Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693698G>C | CA411812714 | A4GALT,CYB5R3 | c.-49+27099C>G (n.-49+27099C>G) c.254C>G (p.Ser85Ter) | |
| 22 | g.42693698G= | CA2406870438 | A4GALT,CYB5R3 | c.-49+27099C= (n.-49+27099C=) c.254C= (p.Ser85=) | |
| 22 | g.42693698G>T | CA411812715 | A4GALT,CYB5R3 | c.-49+27099C>A (n.-49+27099C>A) c.254C>A (p.Ser85Ter) | gnomAD v4 |
| 22 | g.42693699A= | CA2406870439 | A4GALT,CYB5R3 | c.-49+27098T= (n.-49+27098T=) c.253T= (p.Ser85=) | |
| 22 | g.42693699A>C | CA411812717 | A4GALT,CYB5R3 | c.-49+27098T>G (n.-49+27098T>G) c.253T>G (p.Ser85Ala) | |
| 22 | g.42693699A>G | CA411812716 | A4GALT,CYB5R3 | c.-49+27098T>C (n.-49+27098T>C) c.253T>C (p.Ser85Pro) | |
| 22 | g.42693699A>T | CA324732471 | A4GALT,CYB5R3 | c.-49+27098T>A (n.-49+27098T>A) c.253T>A (p.Ser85Thr) | dbSNP gnomAD v4 |
| 22 | g.42693699_42693707del | CA2657079034 | A4GALT,CYB5R3 | c.-49+27090_-49+27098del (n.-49+27090_-49+27098del) c.245_253del (p.Leu82_Ser85delinsPro) | gnomAD v4 |
| 22 | g.42693700A>C | CA515071753 | A4GALT,CYB5R3 | c.-49+27097T>G (n.-49+27097T>G) c.252T>G (p.Thr84=) | |
| 22 | g.42693700A>G | CA515071757 | A4GALT,CYB5R3 | c.-49+27097T>C (n.-49+27097T>C) c.252T>C (p.Thr84=) | |
| 22 | g.42693700A>T | CA515071755 | A4GALT,CYB5R3 | c.-49+27097T>A (n.-49+27097T>A) c.252T>A (p.Thr84=) | |
| 22 | g.42693701G>A | CA411812718 | A4GALT,CYB5R3 | c.-49+27096C>T (n.-49+27096C>T) c.251C>T (p.Thr84Ile) | |
| 22 | g.42693701G>C | CA411812719 | A4GALT,CYB5R3 | c.-49+27096C>G (n.-49+27096C>G) c.251C>G (p.Thr84Ser) | dbSNP |
| 22 | g.42693701G= | CA2406870440 | A4GALT,CYB5R3 | c.-49+27096C= (n.-49+27096C=) c.251C= (p.Thr84=) | |
| 22 | g.42693701G>T | CA411812720 | A4GALT,CYB5R3 | c.-49+27096C>A (n.-49+27096C>A) c.251C>A (p.Thr84Asn) | |
| 22 | g.42693702T>A | CA411812721 | A4GALT,CYB5R3 | c.-49+27095A>T (n.-49+27095A>T) c.250A>T (p.Thr84Ser) | |
| 22 | g.42693702T>C | CA411812722 | A4GALT,CYB5R3 | c.-49+27095A>G (n.-49+27095A>G) c.250A>G (p.Thr84Ala) | |
| 22 | g.42693702T>G | CA411812723 | A4GALT,CYB5R3 | c.-49+27095A>C (n.-49+27095A>C) c.250A>C (p.Thr84Pro) | |
| 22 | g.42693702_42693707del | CA2657079036 | A4GALT,CYB5R3 | c.-49+27090_-49+27095del (n.-49+27090_-49+27095del) c.245_250del (p.Leu82_Thr84delinsPro) | gnomAD v4 |
| 22 | g.42693703C>A | CA411812724 | A4GALT,CYB5R3 | c.-49+27094G>T (n.-49+27094G>T) c.249G>T (p.Glu83Asp) | |
| 22 | g.42693703C= | CA2406870441 | A4GALT,CYB5R3 | c.-49+27094G= (n.-49+27094G=) c.249G= (p.Glu83=) | |
| 22 | g.42693703C>G | CA411812725 | A4GALT,CYB5R3 | c.-49+27094G>C (n.-49+27094G>C) c.249G>C (p.Glu83Asp) | |
| 22 | g.42693703C>T | CA10270354 | A4GALT,CYB5R3 | c.-49+27094G>A (n.-49+27094G>A) c.249G>A (p.Glu83=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693704T>A | CA411812726 | A4GALT,CYB5R3 | c.-49+27093A>T (n.-49+27093A>T) c.248A>T (p.Glu83Val) | |
| 22 | g.42693704T>C | CA411812727 | A4GALT,CYB5R3 | c.-49+27093A>G (n.-49+27093A>G) c.248A>G (p.Glu83Gly) | |
| 22 | g.42693704T>G | CA411812728 | A4GALT,CYB5R3 | c.-49+27093A>C (n.-49+27093A>C) c.248A>C (p.Glu83Ala) | |
| 22 | g.42693705C>A | CA411812730 | A4GALT,CYB5R3 | c.-49+27092G>T (n.-49+27092G>T) c.247G>T (p.Glu83Ter) | |
| 22 | g.42693705C= | CA2406870442 | A4GALT,CYB5R3 | c.-49+27092G= (n.-49+27092G=) c.247G= (p.Glu83=) | |
| 22 | g.42693705C>G | CA10270355 | A4GALT,CYB5R3 | c.-49+27092G>C (n.-49+27092G>C) c.247G>C (p.Glu83Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693705C>T | CA411812729 | A4GALT,CYB5R3 | c.-49+27092G>A (n.-49+27092G>A) c.247G>A (p.Glu83Lys) | |
| 22 | g.42693705_42693706del | CA2558424172 | A4GALT,CYB5R3 | c.-49+27091_-49+27092del (n.-49+27091_-49+27092del) c.246_247del (p.Glu83AspfsTer?) | |
| 22 | g.42693706C>A | CA515071772 | A4GALT,CYB5R3 | c.-49+27091G>T (n.-49+27091G>T) c.246G>T (p.Leu82=) | |
| 22 | g.42693706C>G | CA515071773 | A4GALT,CYB5R3 | c.-49+27091G>C (n.-49+27091G>C) c.246G>C (p.Leu82=) | |
| 22 | g.42693706C>T | CA515071774 | A4GALT,CYB5R3 | c.-49+27091G>A (n.-49+27091G>A) c.246G>A (p.Leu82=) | gnomAD v4 |
| 22 | g.42693707A= | CA2406870443 | A4GALT,CYB5R3 | c.-49+27090T= (n.-49+27090T=) c.245T= (p.Leu82=) | |
| 22 | g.42693707A>C | CA411812731 | A4GALT,CYB5R3 | c.-49+27090T>G (n.-49+27090T>G) c.245T>G (p.Leu82Arg) | |
| 22 | g.42693707A>G | CA411812732 | A4GALT,CYB5R3 | c.-49+27090T>C (n.-49+27090T>C) c.245T>C (p.Leu82Pro) | gnomAD v4 |
| 22 | g.42693707A>T | CA411812733 | A4GALT,CYB5R3 | c.-49+27090T>A (n.-49+27090T>A) c.245T>A (p.Leu82Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693708G>A | CA515071780 | A4GALT,CYB5R3 | c.-49+27089C>T (n.-49+27089C>T) c.244C>T (p.Leu82=) | dbSNP gnomAD v4 |
| 22 | g.42693708G>C | CA411812734 | A4GALT,CYB5R3 | c.-49+27089C>G (n.-49+27089C>G) c.244C>G (p.Leu82Val) | |
| 22 | g.42693708G= | CA2406870445 | A4GALT,CYB5R3 | c.-49+27089C= (n.-49+27089C=) c.244C= (p.Leu82=) | |
| 22 | g.42693708G>T | CA411812735 | A4GALT,CYB5R3 | c.-49+27089C>A (n.-49+27089C>A) c.244C>A (p.Leu82Met) | |
| 22 | g.42693708_42693711delinsGGAA | CA2406870444 | A4GALT,CYB5R3 | c.-49+27086_-49+27089delinsTTCC (n.-49+27086_-49+27089delinsTTCC) c.241_244delinsTTCC (p.Phe81=) | |
| 22 | g.42693709G>A | CA515071791 | A4GALT,CYB5R3 | c.-49+27088C>T (n.-49+27088C>T) c.243C>T (p.Phe81=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693709G>C | CA411812736 | A4GALT,CYB5R3 | c.-49+27088C>G (n.-49+27088C>G) c.243C>G (p.Phe81Leu) | gnomAD v4 |
| 22 | g.42693709G= | CA2406870446 | A4GALT,CYB5R3 | c.-49+27088C= (n.-49+27088C=) c.243C= (p.Phe81=) | |
| 22 | g.42693709G>T | CA10270356 | A4GALT,CYB5R3 | c.-49+27088C>A (n.-49+27088C>A) c.243C>A (p.Phe81Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693714_42693716del | CA115691 | A4GALT,CYB5R3 | c.-49+27086_-49+27088del (n.-49+27086_-49+27088del) c.241_243del (p.Phe81del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693710A>C | CA411812737 | A4GALT,CYB5R3 | c.-49+27087T>G (n.-49+27087T>G) c.242T>G (p.Phe81Cys) | |
| 22 | g.42693710A>G | CA411812738 | A4GALT,CYB5R3 | c.-49+27087T>C (n.-49+27087T>C) c.242T>C (p.Phe81Ser) | gnomAD v4 |
| 22 | g.42693710A>T | CA411812739 | A4GALT,CYB5R3 | c.-49+27087T>A (n.-49+27087T>A) c.242T>A (p.Phe81Tyr) | |
| 22 | g.42693710_42693711del | CA2657079067 | A4GALT,CYB5R3 | c.-49+27086_-49+27087del (n.-49+27086_-49+27087del) c.241_242del (p.Phe81ProfsTer?) | gnomAD v4 |
| 22 | g.42693710_42693714del | CA2657079065 | A4GALT,CYB5R3 | c.-49+27083_-49+27087del (n.-49+27083_-49+27087del) c.238_242del (p.Phe80ProfsTer?) | gnomAD v4 |
| 22 | g.42693710_42693716del | CA2657079064 | A4GALT,CYB5R3 | c.-49+27081_-49+27087del (n.-49+27081_-49+27087del) c.236_242del (p.Ile79ThrfsTer?) | gnomAD v4 |
| 22 | g.42693710_42693717del | CA2657079061 | A4GALT,CYB5R3 | c.-49+27080_-49+27087del (n.-49+27080_-49+27087del) c.235_242del (p.Ile79ProfsTer?) | gnomAD v4 |
| 22 | g.42693710_42693720del | CA2657079069 | A4GALT,CYB5R3 | c.-49+27077_-49+27087del (n.-49+27077_-49+27087del) c.232_242del (p.Asn78ProfsTer?) | gnomAD v4 |
| 22 | g.42693710_42693723del | CA2657079060 | A4GALT,CYB5R3 | c.-49+27074_-49+27087del (n.-49+27074_-49+27087del) c.229_242del (p.Gly77ProfsTer?) | gnomAD v4 |
| 22 | g.42693710_42693724del | CA2657079059 | A4GALT,CYB5R3 | c.-49+27073_-49+27087del (n.-49+27073_-49+27087del) c.228_242del (p.Gly77_Phe81del) | gnomAD v4 |
| 22 | g.42693710_42693729del | CA2502675889 | A4GALT,CYB5R3 | c.-49+27068_-49+27087del (n.-49+27068_-49+27087del) c.223_242del (p.Thr75ProfsTer?) | gnomAD v4 |
| 22 | g.42693711A= | CA2406870447 | A4GALT,CYB5R3 | c.-49+27086T= (n.-49+27086T=) c.241T= (p.Phe81=) | |
| 22 | g.42693711A>C | CA411812742 | A4GALT,CYB5R3 | c.-49+27086T>G (n.-49+27086T>G) c.241T>G (p.Phe81Val) | |
| 22 | g.42693711A>G | CA411812741 | A4GALT,CYB5R3 | c.-49+27086T>C (n.-49+27086T>C) c.241T>C (p.Phe81Leu) | dbSNP gnomAD v4 |
| 22 | g.42693711A>T | CA411812740 | A4GALT,CYB5R3 | c.-49+27086T>A (n.-49+27086T>A) c.241T>A (p.Phe81Ile) | |
| 22 | g.42693712G>A | CA515071800 | A4GALT,CYB5R3 | c.-49+27085C>T (n.-49+27085C>T) c.240C>T (p.Phe80=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693712G>C | CA411812743 | A4GALT,CYB5R3 | c.-49+27085C>G (n.-49+27085C>G) c.240C>G (p.Phe80Leu) | |
| 22 | g.42693712G= | CA2406870448 | A4GALT,CYB5R3 | c.-49+27085C= (n.-49+27085C=) c.240C= (p.Phe80=) | |
| 22 | g.42693712G>T | CA411812744 | A4GALT,CYB5R3 | c.-49+27085C>A (n.-49+27085C>A) c.240C>A (p.Phe80Leu) | gnomAD v4 |
| 22 | g.42693712dup | CA2657079073 | A4GALT,CYB5R3 | c.-49+27085dup (n.-49+27085dup) c.240dup (p.Phe81LeufsTer?) | gnomAD v4 |
| 22 | g.42693713A>C | CA411812745 | A4GALT,CYB5R3 | c.-49+27084T>G (n.-49+27084T>G) c.239T>G (p.Phe80Cys) | |
| 22 | g.42693713A>G | CA411812746 | A4GALT,CYB5R3 | c.-49+27084T>C (n.-49+27084T>C) c.239T>C (p.Phe80Ser) | gnomAD v4 |
| 22 | g.42693713A>T | CA411812747 | A4GALT,CYB5R3 | c.-49+27084T>A (n.-49+27084T>A) c.239T>A (p.Phe80Tyr) | |
| 22 | g.42693713_42693724del | CA2657079078 | A4GALT,CYB5R3 | c.-49+27073_-49+27084del (n.-49+27073_-49+27084del) c.228_239del (p.Gly77_Phe80del) | gnomAD v4 |
| 22 | g.42693714A= | CA2406870449 | A4GALT,CYB5R3 | c.-49+27083T= (n.-49+27083T=) c.238T= (p.Phe80=) | |
| 22 | g.42693714A>C | CA411812748 | A4GALT,CYB5R3 | c.-49+27083T>G (n.-49+27083T>G) c.238T>G (p.Phe80Val) | |
| 22 | g.42693714A>G | CA411812749 | A4GALT,CYB5R3 | c.-49+27083T>C (n.-49+27083T>C) c.238T>C (p.Phe80Leu) | gnomAD v4 |
| 22 | g.42693714A>T | CA10270357 | A4GALT,CYB5R3 | c.-49+27083T>A (n.-49+27083T>A) c.238T>A (p.Phe80Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693715G>A | CA515071812 | A4GALT,CYB5R3 | c.-49+27082C>T (n.-49+27082C>T) c.237C>T (p.Ile79=) | |
| 22 | g.42693715G>C | CA411812750 | A4GALT,CYB5R3 | c.-49+27082C>G (n.-49+27082C>G) c.237C>G (p.Ile79Met) | |
| 22 | g.42693715G>T | CA515071815 | A4GALT,CYB5R3 | c.-49+27082C>A (n.-49+27082C>A) c.237C>A (p.Ile79=) | |
| 22 | g.42693716A>C | CA411812751 | A4GALT,CYB5R3 | c.-49+27081T>G (n.-49+27081T>G) c.236T>G (p.Ile79Ser) | |
| 22 | g.42693716A>G | CA411812752 | A4GALT,CYB5R3 | c.-49+27081T>C (n.-49+27081T>C) c.236T>C (p.Ile79Thr) | gnomAD v4 |
| 22 | g.42693716A>T | CA411812753 | A4GALT,CYB5R3 | c.-49+27081T>A (n.-49+27081T>A) c.236T>A (p.Ile79Asn) | |
| 22 | g.42693717T>A | CA411812754 | A4GALT,CYB5R3 | c.-49+27080A>T (n.-49+27080A>T) c.235A>T (p.Ile79Phe) | gnomAD v4 |
| 22 | g.42693717T>C | CA10270358 | A4GALT,CYB5R3 | c.-49+27080A>G (n.-49+27080A>G) c.235A>G (p.Ile79Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693717T>G | CA411812755 | A4GALT,CYB5R3 | c.-49+27080A>C (n.-49+27080A>C) c.235A>C (p.Ile79Leu) | gnomAD v3 gnomAD v4 |
| 22 | g.42693717T= | CA2406870450 | A4GALT,CYB5R3 | c.-49+27080A= (n.-49+27080A=) c.235A= (p.Ile79=) | |
| 22 | g.42693718G>A | CA515071823 | A4GALT,CYB5R3 | c.-49+27079C>T (n.-49+27079C>T) c.234C>T (p.Asn78=) | |
| 22 | g.42693718G>C | CA411812756 | A4GALT,CYB5R3 | c.-49+27079C>G (n.-49+27079C>G) c.234C>G (p.Asn78Lys) | |
| 22 | g.42693718G>T | CA411812757 | A4GALT,CYB5R3 | c.-49+27079C>A (n.-49+27079C>A) c.234C>A (p.Asn78Lys) | gnomAD v4 |
| 22 | g.42693719T>A | CA411812758 | A4GALT,CYB5R3 | c.-49+27078A>T (n.-49+27078A>T) c.233A>T (p.Asn78Ile) | |
| 22 | g.42693719T>C | CA411812759 | A4GALT,CYB5R3 | c.-49+27078A>G (n.-49+27078A>G) c.233A>G (p.Asn78Ser) | |
| 22 | g.42693719T>G | CA411812760 | A4GALT,CYB5R3 | c.-49+27078A>C (n.-49+27078A>C) c.233A>C (p.Asn78Thr) | gnomAD v4 |
| 22 | g.42693719_42693724del | CA2657079081 | A4GALT,CYB5R3 | c.-49+27073_-49+27078del (n.-49+27073_-49+27078del) c.228_233del (p.Gly77_Asn78del) | gnomAD v4 |
| 22 | g.42693720_42693724del | CA2657079082 | A4GALT,CYB5R3 | c.-49+27074_-49+27078del (n.-49+27074_-49+27078del) c.229_233del (p.Gly77HisfsTer?) | gnomAD v4 |
| 22 | g.42693719_42693720insGGGGGGG | CA2657079084 | A4GALT,CYB5R3 | c.-49+27077_-49+27078insCCCCCCC (n.-49+27077_-49+27078insCCCCCCC) c.232_233insCCCCCCC (p.Asn78ThrfsTer?) | gnomAD v4 |
| 22 | g.42693720T>A | CA411812761 | A4GALT,CYB5R3 | c.-49+27077A>T (n.-49+27077A>T) c.232A>T (p.Asn78Tyr) | |
| 22 | g.42693720T>C | CA411812762 | A4GALT,CYB5R3 | c.-49+27077A>G (n.-49+27077A>G) c.232A>G (p.Asn78Asp) | |
| 22 | g.42693720T>G | CA411812763 | A4GALT,CYB5R3 | c.-49+27077A>C (n.-49+27077A>C) c.232A>C (p.Asn78His) | gnomAD v3 gnomAD v4 |
| 22 | g.42693721G>A | CA515071833 | A4GALT,CYB5R3 | c.-49+27076C>T (n.-49+27076C>T) c.231C>T (p.Gly77=) | gnomAD v4 |
| 22 | g.42693721G>C | CA515071835 | A4GALT,CYB5R3 | c.-49+27076C>G (n.-49+27076C>G) c.231C>G (p.Gly77=) | |
| 22 | g.42693721G>T | CA515071837 | A4GALT,CYB5R3 | c.-49+27076C>A (n.-49+27076C>A) c.231C>A (p.Gly77=) | gnomAD v4 |
| 22 | g.42693721_42693723del | CA2657079085 | A4GALT,CYB5R3 | c.-49+27074_-49+27076del (n.-49+27074_-49+27076del) c.229_231del (p.Gly77del) | gnomAD v4 |
| 22 | g.42693721_42693745delinsGCCTGGAGTGGGGCCGTGGGAGGGT | CA2406870451 | A4GALT,CYB5R3 | c.-49+27052_-49+27076delinsACCCTCCCACGGCCCCACTCCAGGC (n.-49+27052_-49+27076delinsACCCTCCCACGGCCCCACTCCAGGC) c.207_231delinsACCCTCCCACGGCCCCACTCCAGGC (p.Pro69=) | |
| 22 | g.42693722C>A | CA411812764 | A4GALT,CYB5R3 | c.-49+27075G>T (n.-49+27075G>T) c.230G>T (p.Gly77Val) | |
| 22 | g.42693722C= | CA2406870452 | A4GALT,CYB5R3 | c.-49+27075G= (n.-49+27075G=) c.230G= (p.Gly77=) | |
| 22 | g.42693722C>G | CA411812765 | A4GALT,CYB5R3 | c.-49+27075G>C (n.-49+27075G>C) c.230G>C (p.Gly77Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693722C>T | CA411812766 | A4GALT,CYB5R3 | c.-49+27075G>A (n.-49+27075G>A) c.230G>A (p.Gly77Asp) | |
| 22 | g.42693722_42693723del | CA2657079086 | A4GALT,CYB5R3 | c.-49+27074_-49+27075del (n.-49+27074_-49+27075del) c.229_230del (p.Gly77GlnfsTer?) | gnomAD v4 |
| 22 | g.42693722_42693724del | CA2657079087 | A4GALT,CYB5R3 | c.-49+27073_-49+27075del (n.-49+27073_-49+27075del) c.228_230del (p.Gly77del) | gnomAD v4 |
| 22 | g.42693722_42693745del | CA639829281 | A4GALT,CYB5R3 | c.-49+27052_-49+27075del (n.-49+27052_-49+27075del) c.207_230del (p.Pro70_Gly77del) | dbSNP gnomAD v2 |
| 22 | g.42693723C>A | CA411812767 | A4GALT,CYB5R3 | c.-49+27074G>T (n.-49+27074G>T) c.229G>T (p.Gly77Cys) | gnomAD v4 |
| 22 | g.42693723C= | CA2406870453 | A4GALT,CYB5R3 | c.-49+27074G= (n.-49+27074G=) c.229G= (p.Gly77=) | |
| 22 | g.42693723C>G | CA411812768 | A4GALT,CYB5R3 | c.-49+27074G>C (n.-49+27074G>C) c.229G>C (p.Gly77Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693723C>T | CA411812769 | A4GALT,CYB5R3 | c.-49+27074G>A (n.-49+27074G>A) c.229G>A (p.Gly77Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693723_42693729del | CA2543844221 | A4GALT,CYB5R3 | c.-49+27068_-49+27074del (n.-49+27068_-49+27074del) c.223_229del (p.Thr75AlafsTer?) | gnomAD v4 |
| 22 | g.42693724del | CA2819076076 | A4GALT,CYB5R3 | c.-49+27073del (n.-49+27073del) c.228del (p.Gly77AlafsTer?) | |
| 22 | g.42693724T>A | CA515071851 | A4GALT,CYB5R3 | c.-49+27073A>T (n.-49+27073A>T) c.228A>T (p.Pro76=) | |
| 22 | g.42693724T>C | CA10270359 | A4GALT,CYB5R3 | c.-49+27073A>G (n.-49+27073A>G) c.228A>G (p.Pro76=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693724T>G | CA515071856 | A4GALT,CYB5R3 | c.-49+27073A>C (n.-49+27073A>C) c.228A>C (p.Pro76=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693724T= | CA2406870454 | A4GALT,CYB5R3 | c.-49+27073A= (n.-49+27073A=) c.228A= (p.Pro76=) | |
| 22 | g.42693724dup | CA2657079091 | A4GALT,CYB5R3 | c.-49+27073dup (n.-49+27073dup) c.228dup (p.Gly77ArgfsTer?) | gnomAD v4 |
| 22 | g.42693724_42693729del | CA1025982035 | A4GALT,CYB5R3 | c.-49+27068_-49+27073del (n.-49+27068_-49+27073del) c.223_228del (p.Thr75_Pro76del) | gnomAD v3 gnomAD v4 |
| 22 | g.42693724_42693725insTCCGG | CA2657079094 | A4GALT,CYB5R3 | c.-49+27072_-49+27073insCCGGA (n.-49+27072_-49+27073insCCGGA) c.227_228insCCGGA (p.Gly77ArgfsTer?) | gnomAD v4 |
| 22 | g.42693724_42693725insTGGGGGGGGGG | CA2657079096 | A4GALT,CYB5R3 | c.-49+27072_-49+27073insCCCCCCCCCCA (n.-49+27072_-49+27073insCCCCCCCCCCA) c.227_228insCCCCCCCCCCA (p.Gly77ProfsTer?) | gnomAD v4 |
| 22 | g.42693724_42693725insTTCTTGGGGGGG | CA2657079097 | A4GALT,CYB5R3 | c.-49+27072_-49+27073insCCCCCCCAAGAA (n.-49+27072_-49+27073insCCCCCCCAAGAA) c.227_228insCCCCCCCAAGAA (p.Pro76_Gly77insProProLysLys) | gnomAD v4 |
| 22 | g.42693724_42693725insTTGTGGGGGGGG | CA2819076080 | A4GALT,CYB5R3 | c.-49+27072_-49+27073insCCCCCCCCACAA (n.-49+27072_-49+27073insCCCCCCCCACAA) c.227_228insCCCCCCCCACAA (p.Pro76_Gly77insProProHisLys) | |
| 22 | g.42693724_42693725insTTTGGGGGGGGG | CA2657079099 | A4GALT,CYB5R3 | c.-49+27072_-49+27073insCCCCCCCCCAAA (n.-49+27072_-49+27073insCCCCCCCCCAAA) c.227_228insCCCCCCCCCAAA (p.Pro76_Gly77insProProProLys) | gnomAD v4 |
| 22 | g.42693724_42693725insCTTTGGGGGGGGG | CA2657079092 | A4GALT,CYB5R3 | c.-49+27072_-49+27073insCCCCCCCCCAAAG (n.-49+27072_-49+27073insCCCCCCCCCAAAG) c.227_228insCCCCCCCCCAAAG (p.Gly77ProfsTer?) | gnomAD v4 |
| 22 | g.42693724_42693725insTTTTTATTTTTTGGTGGGGGGG | CA2657079100 | A4GALT,CYB5R3 | c.-49+27072_-49+27073insCCCCCCCACCAAAAAATAAAAA (n.-49+27072_-49+27073insCCCCCCCACCAAAAAATAAAAA) c.227_228insCCCCCCCACCAAAAAATAAAAA (p.Gly77ProfsTer6) | gnomAD v4 |
| 22 | g.42693724_42693725insCTTTATTTTTTGGGGGGGGGGG | CA2819076079 | A4GALT,CYB5R3 | c.-49+27072_-49+27073insCCCCCCCCCCCAAAAAATAAAG (n.-49+27072_-49+27073insCCCCCCCCCCCAAAAAATAAAG) c.227_228insCCCCCCCCCCCAAAAAATAAAG (p.Gly77ProfsTer?) | |
| 22 | g.42693725G>A | CA411812770 | A4GALT,CYB5R3 | c.-49+27072C>T (n.-49+27072C>T) c.227C>T (p.Pro76Leu) | |
| 22 | g.42693725G>C | CA411812772 | A4GALT,CYB5R3 | c.-49+27072C>G (n.-49+27072C>G) c.227C>G (p.Pro76Arg) | |
| 22 | g.42693725G>T | CA411812771 | A4GALT,CYB5R3 | c.-49+27072C>A (n.-49+27072C>A) c.227C>A (p.Pro76Gln) | |
| 22 | g.42693725_42693726insTGGGGGGGGG | CA2657079093 | A4GALT,CYB5R3 | c.-49+27072_-49+27073insCCCCCCCCAC (n.-49+27072_-49+27073insCCCCCCCCAC) c.227_228insCCCCCCCCAC (p.Gly77ProfsTer?) | gnomAD v4 |
| 22 | g.42693726dup | CA639829282 | A4GALT,CYB5R3 | c.-49+27072dup (n.-49+27072dup) c.227dup (p.Gly77ArgfsTer?) | gnomAD v2 gnomAD v4 |
| 22 | g.42693726G>A | CA411812773 | A4GALT,CYB5R3 | c.-49+27071C>T (n.-49+27071C>T) c.226C>T (p.Pro76Ser) | gnomAD v4 |
| 22 | g.42693726G>C | CA411812774 | A4GALT,CYB5R3 | c.-49+27071C>G (n.-49+27071C>G) c.226C>G (p.Pro76Ala) | gnomAD v4 |
| 22 | g.42693726G>T | CA411812775 | A4GALT,CYB5R3 | c.-49+27071C>A (n.-49+27071C>A) c.226C>A (p.Pro76Thr) | |
| 22 | g.42693727_42693728del | CA2819076081 | A4GALT,CYB5R3 | c.-49+27070_-49+27071del (n.-49+27070_-49+27071del) c.225_226del (p.Pro76ArgfsTer?) | |
| 22 | g.42693727del | CA2657079101 | A4GALT,CYB5R3 | c.-49+27070del (n.-49+27070del) c.225del (p.Pro76GlnfsTer?) | gnomAD v4 |
| 22 | g.42693727A= | CA2406870455 | A4GALT,CYB5R3 | c.-49+27070T= (n.-49+27070T=) c.225T= (p.Thr75=) | |
| 22 | g.42693727A>C | CA515071866 | A4GALT,CYB5R3 | c.-49+27070T>G (n.-49+27070T>G) c.225T>G (p.Thr75=) | |
| 22 | g.42693727A>G | CA515071868 | A4GALT,CYB5R3 | c.-49+27070T>C (n.-49+27070T>C) c.225T>C (p.Thr75=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693727A>T | CA515071870 | A4GALT,CYB5R3 | c.-49+27070T>A (n.-49+27070T>A) c.225T>A (p.Thr75=) | gnomAD v4 |
| 22 | g.42693727_42693729del | CA1025982036 | A4GALT,CYB5R3 | c.-49+27068_-49+27070del (n.-49+27068_-49+27070del) c.223_225del (p.Thr75del) | gnomAD v3 gnomAD v4 |
| 22 | g.42693727_42693728insC | CA2524035805 | A4GALT,CYB5R3 | c.-49+27069_-49+27070insG (n.-49+27069_-49+27070insG) c.224_225insG (p.Pro76SerfsTer?) | |
| 22 | g.42693728G>A | CA411812776 | A4GALT,CYB5R3 | c.-49+27069C>T (n.-49+27069C>T) c.224C>T (p.Thr75Ile) | |
| 22 | g.42693728G>C | CA411812777 | A4GALT,CYB5R3 | c.-49+27069C>G (n.-49+27069C>G) c.224C>G (p.Thr75Ser) | |
| 22 | g.42693728G>T | CA411812778 | A4GALT,CYB5R3 | c.-49+27069C>A (n.-49+27069C>A) c.224C>A (p.Thr75Asn) | |
| 22 | g.42693728_42693729insGGGGGGG | CA2819076082 | A4GALT,CYB5R3 | c.-49+27069_-49+27070insCCCCCCC (n.-49+27069_-49+27070insCCCCCCC) c.224_225insCCCCCCC (p.Gly77ProfsTer?) | |
| 22 | g.42693728dup | CA2522401210 | A4GALT,CYB5R3 | c.-49+27069dup (n.-49+27069dup) c.224dup (p.Pro76SerfsTer?) | |
| 22 | g.42693729del | CA1025982037 | A4GALT,CYB5R3 | c.-49+27068del (n.-49+27068del) c.223del (p.Thr75LeufsTer?) | gnomAD v3 gnomAD v4 |
| 22 | g.42693729T>A | CA411812779 | A4GALT,CYB5R3 | c.-49+27068A>T (n.-49+27068A>T) c.223A>T (p.Thr75Ser) | gnomAD v3 gnomAD v4 |
| 22 | g.42693729T>C | CA411812780 | A4GALT,CYB5R3 | c.-49+27068A>G (n.-49+27068A>G) c.223A>G (p.Thr75Ala) | dbSNP gnomAD v4 |
| 22 | g.42693729T>G | CA411812781 | A4GALT,CYB5R3 | c.-49+27068A>C (n.-49+27068A>C) c.223A>C (p.Thr75Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693729T= | CA2406870456 | A4GALT,CYB5R3 | c.-49+27068A= (n.-49+27068A=) c.223A= (p.Thr75=) | |
| 22 | g.42693729_42693730insTGGGG | CA2657079104 | A4GALT,CYB5R3 | c.-49+27067_-49+27068insCCCCA (n.-49+27067_-49+27068insCCCCA) c.222_223insCCCCA (p.Thr75ProfsTer?) | gnomAD v4 |
| 22 | g.42693729_42693730insTTGGGGGGGGGGGGGGG | CA2657079106 | A4GALT,CYB5R3 | c.-49+27067_-49+27068insCCCCCCCCCCCCCCCAA (n.-49+27067_-49+27068insCCCCCCCCCCCCCCCAA) c.222_223insCCCCCCCCCCCCCCCAA (p.Thr75ProfsTer?) | gnomAD v4 |
| 22 | g.42693729_42693730insTGGGGGGGGGGGGGGGG | CA2657079105 | A4GALT,CYB5R3 | c.-49+27067_-49+27068insCCCCCCCCCCCCCCCCA (n.-49+27067_-49+27068insCCCCCCCCCCCCCCCCA) c.222_223insCCCCCCCCCCCCCCCCA (p.Thr75ProfsTer?) | gnomAD v4 |
| 22 | g.42693730G>A | CA515071878 | A4GALT,CYB5R3 | c.-49+27067C>T (n.-49+27067C>T) c.222C>T (p.Pro74=) | |
| 22 | g.42693730G>C | CA515071879 | A4GALT,CYB5R3 | c.-49+27067C>G (n.-49+27067C>G) c.222C>G (p.Pro74=) | dbSNP gnomAD v4 |
| 22 | g.42693730G>T | CA515071882 | A4GALT,CYB5R3 | c.-49+27067C>A (n.-49+27067C>A) c.222C>A (p.Pro74=) | |
| 22 | g.42693732_42693733insTGGGGGGG | CA2819076085 | A4GALT,CYB5R3 | c.-49+27067_-49+27068insCCCCACCC (n.-49+27067_-49+27068insCCCCACCC) c.222_223insCCCCACCC (p.Thr75ProfsTer?) | |
| 22 | g.42693731G>A | CA411812782 | A4GALT,CYB5R3 | c.-49+27066C>T (n.-49+27066C>T) c.221C>T (p.Pro74Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693731G>C | CA411812783 | A4GALT,CYB5R3 | c.-49+27066C>G (n.-49+27066C>G) c.221C>G (p.Pro74Arg) | dbSNP |
| 22 | g.42693731G= | CA2406870457 | A4GALT,CYB5R3 | c.-49+27066C= (n.-49+27066C=) c.221C= (p.Pro74=) | |
| 22 | g.42693731G>T | CA411812784 | A4GALT,CYB5R3 | c.-49+27066C>A (n.-49+27066C>A) c.221C>A (p.Pro74His) | ClinVar |
| 22 | g.42693732G>A | CA411812787 | A4GALT,CYB5R3 | c.-49+27065C>T (n.-49+27065C>T) c.220C>T (p.Pro74Ser) | gnomAD v4 |
| 22 | g.42693732G>C | CA411812786 | A4GALT,CYB5R3 | c.-49+27065C>G (n.-49+27065C>G) c.220C>G (p.Pro74Ala) | |
| 22 | g.42693732G>T | CA411812785 | A4GALT,CYB5R3 | c.-49+27065C>A (n.-49+27065C>A) c.220C>A (p.Pro74Thr) | gnomAD v4 |
| 22 | g.42693732_42693745delinsGGCCGTGGGAGGGT | CA2406870458 | A4GALT,CYB5R3 | c.-49+27052_-49+27065delinsACCCTCCCACGGCC (n.-49+27052_-49+27065delinsACCCTCCCACGGCC) c.207_220delinsACCCTCCCACGGCC (p.Pro69=) | |
| 22 | g.42693732_42693733insAT | CA2568083422 | A4GALT,CYB5R3 | c.-49+27064_-49+27065insAT (n.-49+27064_-49+27065insAT) c.219_220insAT (p.Pro74IlefsTer?) | |
| 22 | g.42693733G>A | CA515071892 | A4GALT,CYB5R3 | c.-49+27064C>T (n.-49+27064C>T) c.219C>T (p.Gly73=) | gnomAD v4 |
| 22 | g.42693733G>C | CA515071896 | A4GALT,CYB5R3 | c.-49+27064C>G (n.-49+27064C>G) c.219C>G (p.Gly73=) | gnomAD v4 |
| 22 | g.42693733G>T | CA515071901 | A4GALT,CYB5R3 | c.-49+27064C>A (n.-49+27064C>A) c.219C>A (p.Gly73=) | |
| 22 | g.42693733_42693734delinsGC | CA2406870460 | A4GALT,CYB5R3 | c.-49+27063_-49+27064delinsGC (n.-49+27063_-49+27064delinsGC) c.218_219delinsGC (p.Gly73=) | |
| 22 | g.42693734_42693736del | CA2819076086 | A4GALT,CYB5R3 | c.-49+27062_-49+27064del (n.-49+27062_-49+27064del) c.217_219del (p.Gly73del) | |
| 22 | g.42693733_42693745delinsGCCGTGGGAGGGT | CA2406870459 | A4GALT,CYB5R3 | c.-49+27052_-49+27064delinsACCCTCCCACGGC (n.-49+27052_-49+27064delinsACCCTCCCACGGC) c.207_219delinsACCCTCCCACGGC (p.Pro69=) | |
| 22 | g.42693734_42693746del | CA639829283 | A4GALT,CYB5R3 | c.-49+27052_-49+27064del (n.-49+27052_-49+27064del) c.207_219del (p.Ser71LeufsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693734C>A | CA411812788 | A4GALT,CYB5R3 | c.-49+27063G>T (n.-49+27063G>T) c.218G>T (p.Gly73Val) | gnomAD v3 gnomAD v4 |
| 22 | g.42693734C>G | CA411812789 | A4GALT,CYB5R3 | c.-49+27063G>C (n.-49+27063G>C) c.218G>C (p.Gly73Ala) | gnomAD v4 |
| 22 | g.42693734C>T | CA411812790 | A4GALT,CYB5R3 | c.-49+27063G>A (n.-49+27063G>A) c.218G>A (p.Gly73Asp) | gnomAD v4 |
| 22 | g.42693734_42693735del | CA1025982038 | A4GALT,CYB5R3 | c.-49+27062_-49+27063del (n.-49+27062_-49+27063del) c.217_218del (p.Gly73ProfsTer?) | gnomAD v3 gnomAD v4 |
| 22 | g.42693735del | CA639829286 | A4GALT,CYB5R3 | c.-49+27063del (n.-49+27063del) c.218del (p.Gly73AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693734_42693737del | CA639829287 | A4GALT,CYB5R3 | c.-49+27060_-49+27063del (n.-49+27060_-49+27063del) c.215_218del (p.His72ProfsTer?) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693734_42693741del | CA1025982039 | A4GALT,CYB5R3 | c.-49+27056_-49+27063del (n.-49+27056_-49+27063del) c.211_218del (p.Ser71ProfsTer?) | gnomAD v3 gnomAD v4 |
| 22 | g.42693734_42693745del | CA639829284 | A4GALT,CYB5R3 | c.-49+27052_-49+27063del (n.-49+27052_-49+27063del) c.207_218del (p.Pro70_Gly73del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693734_42693750del | CA639829285 | A4GALT,CYB5R3 | c.-49+27047_-49+27063del (n.-49+27047_-49+27063del) c.202_218del (p.Thr68ProfsTer?) | gnomAD v2 |
| 22 | g.42693734_42693735insG | CA1025982040 | A4GALT,CYB5R3 | c.-49+27062_-49+27063insC (n.-49+27062_-49+27063insC) c.217_218insC (p.Gly73AlafsTer?) | gnomAD v3 gnomAD v4 |
| 22 | g.42693734_42693735insGGGGGGGGGGGG | CA1025982041 | A4GALT,CYB5R3 | c.-49+27062_-49+27063insCCCCCCCCCCCC (n.-49+27062_-49+27063insCCCCCCCCCCCC) c.217_218insCCCCCCCCCCCC (p.Gly73delinsAlaProProProArg) | gnomAD v3 gnomAD v4 |
| 22 | g.42693735C>A | CA411812791 | A4GALT,CYB5R3 | c.-49+27062G>T (n.-49+27062G>T) c.217G>T (p.Gly73Cys) | gnomAD v3 gnomAD v4 |
| 22 | g.42693735C= | CA2406870461 | A4GALT,CYB5R3 | c.-49+27062G= (n.-49+27062G=) c.217G= (p.Gly73=) | |
| 22 | g.42693735C>G | CA411812792 | A4GALT,CYB5R3 | c.-49+27062G>C (n.-49+27062G>C) c.217G>C (p.Gly73Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693735C>T | CA411812793 | A4GALT,CYB5R3 | c.-49+27062G>A (n.-49+27062G>A) c.217G>A (p.Gly73Ser) | gnomAD v4 COSMIC |
| 22 | g.42693735_42693745del | CA2657079111 | A4GALT,CYB5R3 | c.-49+27052_-49+27062del (n.-49+27052_-49+27062del) c.207_217del (p.Ser71HisfsTer?) | gnomAD v4 |
| 22 | g.42693735_42693736insCTGGGGGGGGGGCG | CA2657079119 | A4GALT,CYB5R3 | c.-49+27061_-49+27062insCGCCCCCCCCCCAG (n.-49+27061_-49+27062insCGCCCCCCCCCCAG) c.216_217insCGCCCCCCCCCCAG (p.Gly73ArgfsTer?) | gnomAD v4 |
| 22 | g.42693736G>A | CA10270360 | A4GALT,CYB5R3 | c.-49+27061C>T (n.-49+27061C>T) c.216C>T (p.His72=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693736G>C | CA411812794 | A4GALT,CYB5R3 | c.-49+27061C>G (n.-49+27061C>G) c.216C>G (p.His72Gln) | |
| 22 | g.42693736G= | CA2406870462 | A4GALT,CYB5R3 | c.-49+27061C= (n.-49+27061C=) c.216C= (p.His72=) | |
| 22 | g.42693736G>T | CA411812795 | A4GALT,CYB5R3 | c.-49+27061C>A (n.-49+27061C>A) c.216C>A (p.His72Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693736_42693737insGG | CA2657079112 | A4GALT,CYB5R3 | c.-49+27061_-49+27062insCC (n.-49+27061_-49+27062insCC) c.216_217insCC (p.Gly73ProfsTer?) | gnomAD v4 |
| 22 | g.42693736_42693737insGGG | CA1025982042 | A4GALT,CYB5R3 | c.-49+27061_-49+27062insCCC (n.-49+27061_-49+27062insCCC) c.216_217insCCC (p.His72_Gly73insPro) | gnomAD v3 gnomAD v4 |
| 22 | g.42693736_42693737insGGGGG | CA2819076090 | A4GALT,CYB5R3 | c.-49+27061_-49+27062insCCCCC (n.-49+27061_-49+27062insCCCCC) c.216_217insCCCCC (p.Gly73ProfsTer?) | |
| 22 | g.42693736_42693737insGGGGGGGG | CA1025982043 | A4GALT,CYB5R3 | c.-49+27061_-49+27062insCCCCCCCC (n.-49+27061_-49+27062insCCCCCCCC) c.216_217insCCCCCCCC (p.Gly73ProfsTer?) | gnomAD v3 gnomAD v4 |
| 22 | g.42693736_42693737insGGGGGGGGGG | CA2657079118 | A4GALT,CYB5R3 | c.-49+27061_-49+27062insCCCCCCCCCC (n.-49+27061_-49+27062insCCCCCCCCCC) c.216_217insCCCCCCCCCC (p.Gly73ProfsTer?) | gnomAD v4 |
| 22 | g.42693736_42693737insGGGGGGGGGCGG | CA2819076094 | A4GALT,CYB5R3 | c.-49+27061_-49+27062insCGCCCCCCCCCC (n.-49+27061_-49+27062insCGCCCCCCCCCC) c.216_217insCGCCCCCCCCCC (p.His72_Gly73insArgProProPro) | |
| 22 | g.42693736_42693737insGGGGGGGGGGGG | CA2819076092 | A4GALT,CYB5R3 | c.-49+27061_-49+27062insCCCCCCCCCCCC (n.-49+27061_-49+27062insCCCCCCCCCCCC) c.216_217insCCCCCCCCCCCC (p.His72_Gly73insProProProPro) | |
| 22 | g.42693736_42693737insGGGGGGGGGCGGG | CA2657079116 | A4GALT,CYB5R3 | c.-49+27061_-49+27062insCCGCCCCCCCCCC (n.-49+27061_-49+27062insCCGCCCCCCCCCC) c.216_217insCCGCCCCCCCCCC (p.Gly73ProfsTer?) | gnomAD v4 |
| 22 | g.42693736_42693737insGGGGGGGGGGCGG | CA2657079121 | A4GALT,CYB5R3 | c.-49+27061_-49+27062insCGCCCCCCCCCCC (n.-49+27061_-49+27062insCGCCCCCCCCCCC) c.216_217insCGCCCCCCCCCCC (p.Gly73ArgfsTer?) | gnomAD v4 |
| 22 | g.42693736_42693737insGGGGGGGGGGGGG | CA639829288 | A4GALT,CYB5R3 | c.-49+27061_-49+27062insCCCCCCCCCCCCC (n.-49+27061_-49+27062insCCCCCCCCCCCCC) c.216_217insCCCCCCCCCCCCC (p.Gly73ProfsTer?) | gnomAD v2 gnomAD v4 |
| 22 | g.42693736_42693737insGGGGGGGGGGGGGGG | CA2832578088 | A4GALT,CYB5R3 | c.-49+27061_-49+27062insCCCCCCCCCCCCCCC (n.-49+27061_-49+27062insCCCCCCCCCCCCCCC) c.216_217insCCCCCCCCCCCCCCC (p.His72_Gly73insProProProProPro) | |
| 22 | g.42693736_42693737insGGGGGGGGGGGGGCGG | CA2657079114 | A4GALT,CYB5R3 | c.-49+27061_-49+27062insCGCCCCCCCCCCCCCC (n.-49+27061_-49+27062insCGCCCCCCCCCCCCCC) c.216_217insCGCCCCCCCCCCCCCC (p.Gly73ArgfsTer?) | gnomAD v4 |
| 22 | g.42693736dup | CA515071913 | A4GALT,CYB5R3 | c.-49+27061dup (n.-49+27061dup) c.216dup (p.Gly73ArgfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693737del | CA2657079126 | A4GALT,CYB5R3 | c.-49+27060del (n.-49+27060del) c.215del (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693737T>A | CA411812796 | A4GALT,CYB5R3 | c.-49+27060A>T (n.-49+27060A>T) c.215A>T (p.His72Leu) | |
| 22 | g.42693737T>C | CA411812797 | A4GALT,CYB5R3 | c.-49+27060A>G (n.-49+27060A>G) c.215A>G (p.His72Arg) | |
| 22 | g.42693737T>G | CA411812798 | A4GALT,CYB5R3 | c.-49+27060A>C (n.-49+27060A>C) c.215A>C (p.His72Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693737T= | CA2406870463 | A4GALT,CYB5R3 | c.-49+27060A= (n.-49+27060A=) c.215A= (p.His72=) | |
| 22 | g.42693737_42693738insTGGGGGGGGGG | CA2657079157 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCA (n.-49+27059_-49+27060insCCCCCCCCCCA) c.214_215insCCCCCCCCCCA (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693737_42693738insTGGGGGGGGGGG | CA2657079158 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCCA (n.-49+27059_-49+27060insCCCCCCCCCCCA) c.214_215insCCCCCCCCCCCA (p.His72delinsProProProProAsn) | gnomAD v4 |
| 22 | g.42693737_42693738insTGGTTGGGGGGGGGGGGGGGGGGGG | CA2657079159 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCCCAACCA (n.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCCCAACCA) c.214_215insCCCCCCCCCCCCCCCCCCCCAACCA (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693738G>A | CA411812799 | A4GALT,CYB5R3 | c.-49+27059C>T (n.-49+27059C>T) c.214C>T (p.His72Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693738G>C | CA411812801 | A4GALT,CYB5R3 | c.-49+27059C>G (n.-49+27059C>G) c.214C>G (p.His72Asp) | |
| 22 | g.42693738G= | CA2406870464 | A4GALT,CYB5R3 | c.-49+27059C= (n.-49+27059C=) c.214C= (p.His72=) | |
| 22 | g.42693738G>T | CA411812800 | A4GALT,CYB5R3 | c.-49+27059C>A (n.-49+27059C>A) c.214C>A (p.His72Asn) | |
| 22 | g.42693738_42693739insTTGGGGGG | CA2657079154 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCAAC (n.-49+27059_-49+27060insCCCCCAAC) c.214_215insCCCCCAAC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693738_42693739insTTGGGGGGCGGGG | CA2657079155 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCGCCCCCCAAC (n.-49+27059_-49+27060insCCCGCCCCCCAAC) c.214_215insCCCGCCCCCCAAC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693739_42693740insTTGTTTGGGTTGGGGGGGGGGGG | CA2657079153 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCAACCCAAACAACC (n.-49+27059_-49+27060insCCCCCCCCCCAACCCAAACAACC) c.214_215insCCCCCCCCCCAACCCAAACAACC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693739_42693740insTTGGGTGGGGGGGGGGGGGGGGGGGG | CA2819076097 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCACCCAACC (n.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCACCCAACC) c.214_215insCCCCCCCCCCCCCCCCCCACCCAACC (p.His72ProfsTer?) | |
| 22 | g.42693739_42693740insCACAGTGTGTGGGGGGGGGGGGGGGGGGGGGG | CA2657079163 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCCCACACACTGTGCC (n.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCCCACACACTGTGCC) c.214_215insCCCCCCCCCCCCCCCCCCCCACACACTGTGCC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693740_42693741insGGGG | CA1025982044 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCC (n.-49+27059_-49+27060insCCCC) c.214_215insCCCC (p.His72ProfsTer?) | gnomAD v3 gnomAD v4 |
| 22 | g.42693740_42693741insTGGGG | CA2541760907 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCACCC (n.-49+27059_-49+27060insCACCC) c.214_215insCACCC (p.His72ProfsTer?) | |
| 22 | g.42693740_42693741insCGGGGGG | CA1025982045 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCGCCC (n.-49+27059_-49+27060insCCCGCCC) c.214_215insCCCGCCC (p.His72ProfsTer?) | gnomAD v3 gnomAD v4 |
| 22 | g.42693740_42693741insCGGGGGGG | CA2657079165 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCGCCC (n.-49+27059_-49+27060insCCCCGCCC) c.214_215insCCCCGCCC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693740_42693741insGGGGGGGG | CA2657079169 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCC (n.-49+27059_-49+27060insCCCCCCCC) c.214_215insCCCCCCCC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693740_42693741insGGGGGGGGGG | CA2657079148 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCC (n.-49+27059_-49+27060insCCCCCCCCCC) c.214_215insCCCCCCCCCC (p.His72ProfsTer?) | dbSNP gnomAD v4 |
| 22 | g.42693740_42693741insGGGGCGGGGGG | CA2657079160 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCGCCCCCCC (n.-49+27059_-49+27060insCCCGCCCCCCC) c.214_215insCCCGCCCCCCC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693740_42693741insGGGGGGGGGGG | CA2657079177 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCC (n.-49+27059_-49+27060insCCCCCCCCCCC) c.214_215insCCCCCCCCCCC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693740_42693741insGGGGGGCGGGGGG | CA2657079174 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCGCCCCCCCCC (n.-49+27059_-49+27060insCCCGCCCCCCCCC) c.214_215insCCCGCCCCCCCCC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693740_42693741insGGGGGGGGGGGGG | CA2657079178 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCCCC (n.-49+27059_-49+27060insCCCCCCCCCCCCC) c.214_215insCCCCCCCCCCCCC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693740_42693741insGGGGGGCCGGGGGG | CA2657079171 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCGGCCCCCCCCC (n.-49+27059_-49+27060insCCCGGCCCCCCCCC) c.214_215insCCCGGCCCCCCCCC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693740_42693741insGGGGGGGCGGGGGG | CA2657079176 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCGCCCCCCCCCC (n.-49+27059_-49+27060insCCCGCCCCCCCCCC) c.214_215insCCCGCCCCCCCCCC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693740_42693741insGGGGGGGGGGGGGG | CA2657079180 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCCCCC (n.-49+27059_-49+27060insCCCCCCCCCCCCCC) c.214_215insCCCCCCCCCCCCCC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693740_42693741insTGGGGGGGGGGGGG | CA2657079145 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCACCC (n.-49+27059_-49+27060insCCCCCCCCCCACCC) c.214_215insCCCCCCCCCCACCC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693740_42693741insGGGGGGGGGGGGGGG | CA2657079162 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCCCCCC (n.-49+27059_-49+27060insCCCCCCCCCCCCCCC) c.214_215insCCCCCCCCCCCCCCC (p.Ser71_His72insProProProProPro) | gnomAD v4 |
| 22 | g.42693740_42693741insTGGGGGGGGGGGGGG | CA2657079146 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCCACCC (n.-49+27059_-49+27060insCCCCCCCCCCCACCC) c.214_215insCCCCCCCCCCCACCC (p.Ser71_His72insProProProProThr) | gnomAD v4 |
| 22 | g.42693740_42693741insGTTGGGGGGGGGGGGG | CA2657079142 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCAACCCC (n.-49+27059_-49+27060insCCCCCCCCCCAACCCC) c.214_215insCCCCCCCCCCAACCCC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693740_42693741insTGGTGGGGGGGGGGGGG | CA2657079150 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCACCACCC (n.-49+27059_-49+27060insCCCCCCCCCCACCACCC) c.214_215insCCCCCCCCCCACCACCC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693740_42693741insTTGTGGGGGGGGGGGGGG | CA2657079152 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCCACAACCC (n.-49+27059_-49+27060insCCCCCCCCCCCACAACCC) c.214_215insCCCCCCCCCCCACAACCC (p.Ser71_His72insProProProProThrThr) | gnomAD v4 |
| 22 | g.42693740_42693741insCGGGGGGGGGGGGGGGGGG | CA2657079168 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCCCCCCGCCC (n.-49+27059_-49+27060insCCCCCCCCCCCCCCCGCCC) c.214_215insCCCCCCCCCCCCCCCGCCC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693740_42693741insGTGGTGGGGGGGGGGGGGG | CA2657079140 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCCACCACCCC (n.-49+27059_-49+27060insCCCCCCCCCCCACCACCCC) c.214_215insCCCCCCCCCCCACCACCCC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693740_42693741insGGGGGGGGGGGGGGGGGGGG | CA2657079139 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCCC (n.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCCC) c.214_215insCCCCCCCCCCCCCCCCCCCC (p.His72ProfsTer?) | gnomAD v4 |
| 22 | g.42693740_42693741insGGGGGGGGGGGGGGGGGGGGGG | CA2819076098 | A4GALT,CYB5R3 | c.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCCCCC (n.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCCCCC) c.214_215insCCCCCCCCCCCCCCCCCCCCCC (p.His72ProfsTer?) | |
| 22 | g.42693740dup | CA639829289 | A4GALT,CYB5R3 | c.-49+27059dup (n.-49+27059dup) c.214dup (p.His72ProfsTer?) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693739_42693740dup | CA1025982046 | A4GALT,CYB5R3 | c.-49+27058_-49+27059dup (n.-49+27058_-49+27059dup) c.213_214dup (p.His72ProfsTer?) | gnomAD v3 gnomAD v4 |
| 22 | g.42693739G>A | CA10270361 | A4GALT,CYB5R3 | c.-49+27058C>T (n.-49+27058C>T) c.213C>T (p.Ser71=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693739G>C | CA515071927 | A4GALT,CYB5R3 | c.-49+27058C>G (n.-49+27058C>G) c.213C>G (p.Ser71=) | |
| 22 | g.42693739G= | CA2406870465 | A4GALT,CYB5R3 | c.-49+27058C= (n.-49+27058C=) c.213C= (p.Ser71=) | |
| 22 | g.42693739G>T | CA515071926 | A4GALT,CYB5R3 | c.-49+27058C>A (n.-49+27058C>A) c.213C>A (p.Ser71=) | |
| 22 | g.42693741_42693752del | CA2657079183 | A4GALT,CYB5R3 | c.-49+27047_-49+27058del (n.-49+27047_-49+27058del) c.202_213del (p.Thr68_Ser71del) | gnomAD v4 |