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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.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) | |
| 22 | g.42693627G>A | CA411812565 | A4GALT,CYB5R3 | c.-49+27170C>T (n.-49+27170C>T) c.325C>T (p.His109Tyr) | dbSNP gnomAD v4 |
| 22 | g.42693627G>C | CA411812567 | A4GALT,CYB5R3 | c.-49+27170C>G (n.-49+27170C>G) c.325C>G (p.His109Asp) | |
| 22 | g.42693627G= | CA2406870394 | A4GALT,CYB5R3 | c.-49+27170C= (n.-49+27170C=) c.325C= (p.His109=) | |
| 22 | g.42693627G>T | CA411812566 | A4GALT,CYB5R3 | c.-49+27170C>A (n.-49+27170C>A) c.325C>A (p.His109Asn) | |
| 22 | g.42693628G>A | CA515071612 | A4GALT,CYB5R3 | c.-49+27169C>T (n.-49+27169C>T) c.324C>T (p.Ser108=) | gnomAD v4 |
| 22 | g.42693628G>C | CA515071614 | A4GALT,CYB5R3 | c.-49+27169C>G (n.-49+27169C>G) c.324C>G (p.Ser108=) | |
| 22 | g.42693628G>T | CA515071615 | A4GALT,CYB5R3 | c.-49+27169C>A (n.-49+27169C>A) c.324C>A (p.Ser108=) | |
| 22 | g.42693629G>A | CA411812568 | A4GALT,CYB5R3 | c.-49+27168C>T (n.-49+27168C>T) c.323C>T (p.Ser108Phe) | dbSNP |
| 22 | g.42693629G>C | CA411812569 | A4GALT,CYB5R3 | c.-49+27168C>G (n.-49+27168C>G) c.323C>G (p.Ser108Cys) | |
| 22 | g.42693629G= | CA2406870395 | A4GALT,CYB5R3 | c.-49+27168C= (n.-49+27168C=) c.323C= (p.Ser108=) | |
| 22 | g.42693629G>T | CA411812570 | A4GALT,CYB5R3 | c.-49+27168C>A (n.-49+27168C>A) c.323C>A (p.Ser108Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693630A>C | CA411812571 | A4GALT,CYB5R3 | c.-49+27167T>G (n.-49+27167T>G) c.322T>G (p.Ser108Ala) | gnomAD v4 |
| 22 | g.42693630A>G | CA411812572 | A4GALT,CYB5R3 | c.-49+27167T>C (n.-49+27167T>C) c.322T>C (p.Ser108Pro) | gnomAD v4 |
| 22 | g.42693630A>T | CA411812573 | A4GALT,CYB5R3 | c.-49+27167T>A (n.-49+27167T>A) c.322T>A (p.Ser108Thr) | |
| 22 | g.42693631T>A | CA411812574 | A4GALT,CYB5R3 | c.-49+27166A>T (n.-49+27166A>T) c.321A>T (p.Glu107Asp) | |
| 22 | g.42693631T>C | CA515071625 | A4GALT,CYB5R3 | c.-49+27166A>G (n.-49+27166A>G) c.321A>G (p.Glu107=) | |
| 22 | g.42693631T>G | CA411812575 | A4GALT,CYB5R3 | c.-49+27166A>C (n.-49+27166A>C) c.321A>C (p.Glu107Asp) | |
| 22 | g.42693632T>A | CA411812576 | A4GALT,CYB5R3 | c.-49+27165A>T (n.-49+27165A>T) c.320A>T (p.Glu107Val) | |
| 22 | g.42693632T>C | CA411812577 | A4GALT,CYB5R3 | c.-49+27165A>G (n.-49+27165A>G) c.320A>G (p.Glu107Gly) | |
| 22 | g.42693632T>G | CA411812578 | A4GALT,CYB5R3 | c.-49+27165A>C (n.-49+27165A>C) c.320A>C (p.Glu107Ala) | |
| 22 | g.42693633C>A | CA411812581 | A4GALT,CYB5R3 | c.-49+27164G>T (n.-49+27164G>T) c.319G>T (p.Glu107Ter) | |
| 22 | g.42693633C= | CA2406870396 | A4GALT,CYB5R3 | c.-49+27164G= (n.-49+27164G=) c.319G= (p.Glu107=) | |
| 22 | g.42693633C>G | CA411812580 | A4GALT,CYB5R3 | c.-49+27164G>C (n.-49+27164G>C) c.319G>C (p.Glu107Gln) | gnomAD v4 |
| 22 | g.42693633C>T | CA411812579 | A4GALT,CYB5R3 | c.-49+27164G>A (n.-49+27164G>A) c.319G>A (p.Glu107Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693634G>A | CA10270331 | A4GALT,CYB5R3 | c.-49+27163C>T (n.-49+27163C>T) c.318C>T (p.Pro106=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693634G>C | CA515071638 | A4GALT,CYB5R3 | c.-49+27163C>G (n.-49+27163C>G) c.318C>G (p.Pro106=) | |
| 22 | g.42693634G= | CA2406870397 | A4GALT,CYB5R3 | c.-49+27163C= (n.-49+27163C=) c.318C= (p.Pro106=) | |
| 22 | g.42693634G>T | CA515071641 | A4GALT,CYB5R3 | c.-49+27163C>A (n.-49+27163C>A) c.318C>A (p.Pro106=) | dbSNP gnomAD v4 |
| 22 | g.42693635G>A | CA324732429 | A4GALT,CYB5R3 | c.-49+27162C>T (n.-49+27162C>T) c.317C>T (p.Pro106Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693635G>C | CA411812582 | A4GALT,CYB5R3 | c.-49+27162C>G (n.-49+27162C>G) c.317C>G (p.Pro106Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693635G= | CA2406870398 | A4GALT,CYB5R3 | c.-49+27162C= (n.-49+27162C=) c.317C= (p.Pro106=) | |
| 22 | g.42693635G>T | CA411812583 | A4GALT,CYB5R3 | c.-49+27162C>A (n.-49+27162C>A) c.317C>A (p.Pro106His) | |
| 22 | g.42693636G>A | CA411812584 | A4GALT,CYB5R3 | c.-49+27161C>T (n.-49+27161C>T) c.316C>T (p.Pro106Ser) | gnomAD v4 |
| 22 | g.42693636G>C | CA411812586 | A4GALT,CYB5R3 | c.-49+27161C>G (n.-49+27161C>G) c.316C>G (p.Pro106Ala) | |
| 22 | g.42693636G>T | CA411812585 | A4GALT,CYB5R3 | c.-49+27161C>A (n.-49+27161C>A) c.316C>A (p.Pro106Thr) | |
| 22 | g.42693637G>A | CA324732432 | A4GALT,CYB5R3 | c.-49+27160C>T (n.-49+27160C>T) c.315C>T (p.His105=) | dbSNP gnomAD v4 |
| 22 | g.42693637G>C | CA411812587 | A4GALT,CYB5R3 | c.-49+27160C>G (n.-49+27160C>G) c.315C>G (p.His105Gln) | |
| 22 | g.42693637G= | CA2406870399 | A4GALT,CYB5R3 | c.-49+27160C= (n.-49+27160C=) c.315C= (p.His105=) | |
| 22 | g.42693637G>T | CA411812588 | A4GALT,CYB5R3 | c.-49+27160C>A (n.-49+27160C>A) c.315C>A (p.His105Gln) | gnomAD v4 |
| 22 | g.42693638T>A | CA411812589 | A4GALT,CYB5R3 | c.-49+27159A>T (n.-49+27159A>T) c.314A>T (p.His105Leu) | |
| 22 | g.42693638T>C | CA411812590 | A4GALT,CYB5R3 | c.-49+27159A>G (n.-49+27159A>G) c.314A>G (p.His105Arg) | |
| 22 | g.42693638T>G | CA411812591 | A4GALT,CYB5R3 | c.-49+27159A>C (n.-49+27159A>C) c.314A>C (p.His105Pro) | gnomAD v3 gnomAD v4 |
| 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) |