UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693230T>A | CA411811504 | A4GALT,CYB5R3 | c.-49+27567A>T (n.-49+27567A>T) c.722A>T (p.Tyr241Phe) | |
| 22 | g.42693230T>C | CA411811502 | A4GALT,CYB5R3 | c.-49+27567A>G (n.-49+27567A>G) c.722A>G (p.Tyr241Cys) | gnomAD v4 |
| 22 | g.42693230T>G | CA411811503 | A4GALT,CYB5R3 | c.-49+27567A>C (n.-49+27567A>C) c.722A>C (p.Tyr241Ser) | |
| 22 | g.42693231A>C | CA411811506 | A4GALT,CYB5R3 | c.-49+27566T>G (n.-49+27566T>G) c.721T>G (p.Tyr241Asp) | gnomAD v4 |
| 22 | g.42693231A>G | CA411811508 | A4GALT,CYB5R3 | c.-49+27566T>C (n.-49+27566T>C) c.721T>C (p.Tyr241His) | |
| 22 | g.42693231A>T | CA411811510 | A4GALT,CYB5R3 | c.-49+27566T>A (n.-49+27566T>A) c.721T>A (p.Tyr241Asn) | |
| 22 | g.42693232G>A | CA515070855 | A4GALT,CYB5R3 | c.-49+27565C>T (n.-49+27565C>T) c.720C>T (p.His240=) | |
| 22 | g.42693232G>C | CA411811511 | A4GALT,CYB5R3 | c.-49+27565C>G (n.-49+27565C>G) c.720C>G (p.His240Gln) | |
| 22 | g.42693232G>T | CA411811514 | A4GALT,CYB5R3 | c.-49+27565C>A (n.-49+27565C>A) c.720C>A (p.His240Gln) | gnomAD v4 |
| 22 | g.42693233T>A | CA411811516 | A4GALT,CYB5R3 | c.-49+27564A>T (n.-49+27564A>T) c.719A>T (p.His240Leu) | |
| 22 | g.42693233T>C | CA411811518 | A4GALT,CYB5R3 | c.-49+27564A>G (n.-49+27564A>G) c.719A>G (p.His240Arg) | dbSNP gnomAD v2 |
| 22 | g.42693233T>G | CA411811520 | A4GALT,CYB5R3 | c.-49+27564A>C (n.-49+27564A>C) c.719A>C (p.His240Pro) | |
| 22 | g.42693233T= | CA2406870189 | A4GALT,CYB5R3 | c.-49+27564A= (n.-49+27564A=) c.719A= (p.His240=) | |
| 22 | g.42693234G>A | CA411811522 | A4GALT,CYB5R3 | c.-49+27563C>T (n.-49+27563C>T) c.718C>T (p.His240Tyr) | dbSNP gnomAD v4 |
| 22 | g.42693234G>C | CA411811524 | A4GALT,CYB5R3 | c.-49+27563C>G (n.-49+27563C>G) c.718C>G (p.His240Asp) | |
| 22 | g.42693234G= | CA2406870190 | A4GALT,CYB5R3 | c.-49+27563C= (n.-49+27563C=) c.718C= (p.His240=) | |
| 22 | g.42693234G>T | CA10270231 | A4GALT,CYB5R3 | c.-49+27563C>A (n.-49+27563C>A) c.718C>A (p.His240Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693235G>A | CA515070858 | A4GALT,CYB5R3 | c.-49+27562C>T (n.-49+27562C>T) c.717C>T (p.Asp239=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693235G>C | CA411811528 | A4GALT,CYB5R3 | c.-49+27562C>G (n.-49+27562C>G) c.717C>G (p.Asp239Glu) | |
| 22 | g.42693235G= | CA2406870191 | A4GALT,CYB5R3 | c.-49+27562C= (n.-49+27562C=) c.717C= (p.Asp239=) | |
| 22 | g.42693235G>T | CA411811530 | A4GALT,CYB5R3 | c.-49+27562C>A (n.-49+27562C>A) c.717C>A (p.Asp239Glu) | |
| 22 | g.42693236T>A | CA411811532 | A4GALT,CYB5R3 | c.-49+27561A>T (n.-49+27561A>T) c.716A>T (p.Asp239Val) | |
| 22 | g.42693236T>C | CA411811536 | A4GALT,CYB5R3 | c.-49+27561A>G (n.-49+27561A>G) c.716A>G (p.Asp239Gly) | |
| 22 | g.42693236T>G | CA411811534 | A4GALT,CYB5R3 | c.-49+27561A>C (n.-49+27561A>C) c.716A>C (p.Asp239Ala) | |
| 22 | g.42693237C>A | CA411811538 | A4GALT,CYB5R3 | c.-49+27560G>T (n.-49+27560G>T) c.715G>T (p.Asp239Tyr) | |
| 22 | g.42693237C>G | CA411811540 | A4GALT,CYB5R3 | c.-49+27560G>C (n.-49+27560G>C) c.715G>C (p.Asp239His) | |
| 22 | g.42693237C>T | CA411811542 | A4GALT,CYB5R3 | c.-49+27560G>A (n.-49+27560G>A) c.715G>A (p.Asp239Asn) | |
| 22 | g.42693238C>A | CA10270232 | A4GALT,CYB5R3 | c.-49+27559G>T (n.-49+27559G>T) c.714G>T (p.Val238=) | dbSNP ExAC gnomAD v2 |
| 22 | g.42693238C= | CA2406870192 | A4GALT,CYB5R3 | c.-49+27559G= (n.-49+27559G=) c.714G= (p.Val238=) | |
| 22 | g.42693238C>G | CA515070866 | A4GALT,CYB5R3 | c.-49+27559G>C (n.-49+27559G>C) c.714G>C (p.Val238=) | |
| 22 | g.42693238C>T | CA515070868 | A4GALT,CYB5R3 | c.-49+27559G>A (n.-49+27559G>A) c.714G>A (p.Val238=) | dbSNP |
| 22 | g.42693241_42693256del | CA2819076047 | A4GALT,CYB5R3 | c.-49+27544_-49+27559del (n.-49+27544_-49+27559del) c.699_714del (p.Cys233TrpfsTer?) | |
| 22 | g.42693239A= | CA2406870193 | A4GALT,CYB5R3 | c.-49+27558T= (n.-49+27558T=) c.713T= (p.Val238=) | |
| 22 | g.42693239A>C | CA411811546 | A4GALT,CYB5R3 | c.-49+27558T>G (n.-49+27558T>G) c.713T>G (p.Val238Gly) | gnomAD v4 |
| 22 | g.42693239A>G | CA411811547 | A4GALT,CYB5R3 | c.-49+27558T>C (n.-49+27558T>C) c.713T>C (p.Val238Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693239A>T | CA411811549 | A4GALT,CYB5R3 | c.-49+27558T>A (n.-49+27558T>A) c.713T>A (p.Val238Glu) | |
| 22 | g.42693240C>A | CA411811551 | A4GALT,CYB5R3 | c.-49+27557G>T (n.-49+27557G>T) c.712G>T (p.Val238Leu) | |
| 22 | g.42693240C= | CA2406870194 | A4GALT,CYB5R3 | c.-49+27557G= (n.-49+27557G=) c.712G= (p.Val238=) | |
| 22 | g.42693240C>G | CA411811553 | A4GALT,CYB5R3 | c.-49+27557G>C (n.-49+27557G>C) c.712G>C (p.Val238Leu) | |
| 22 | g.42693240C>T | CA324732230 | A4GALT,CYB5R3 | c.-49+27557G>A (n.-49+27557G>A) c.712G>A (p.Val238Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693241G>A | CA10270233 | A4GALT,CYB5R3 | c.-49+27556C>T (n.-49+27556C>T) c.711C>T (p.Phe237=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693241G>C | CA411811558 | A4GALT,CYB5R3 | c.-49+27556C>G (n.-49+27556C>G) c.711C>G (p.Phe237Leu) | gnomAD v4 |
| 22 | g.42693241G= | CA2406870195 | A4GALT,CYB5R3 | c.-49+27556C= (n.-49+27556C=) c.711C= (p.Phe237=) | |
| 22 | g.42693241G>T | CA411811560 | A4GALT,CYB5R3 | c.-49+27556C>A (n.-49+27556C>A) c.711C>A (p.Phe237Leu) | gnomAD v4 |
| 22 | g.42693242A>C | CA411811567 | A4GALT,CYB5R3 | c.-49+27555T>G (n.-49+27555T>G) c.710T>G (p.Phe237Cys) | |
| 22 | g.42693242A>G | CA411811563 | A4GALT,CYB5R3 | c.-49+27555T>C (n.-49+27555T>C) c.710T>C (p.Phe237Ser) | |
| 22 | g.42693242A>T | CA411811565 | A4GALT,CYB5R3 | c.-49+27555T>A (n.-49+27555T>A) c.710T>A (p.Phe237Tyr) | |
| 22 | g.42693243A= | CA2406870196 | A4GALT,CYB5R3 | c.-49+27554T= (n.-49+27554T=) c.709T= (p.Phe237=) | |
| 22 | g.42693243A>C | CA411811569 | A4GALT,CYB5R3 | c.-49+27554T>G (n.-49+27554T>G) c.709T>G (p.Phe237Val) | |
| 22 | g.42693243A>G | CA411811571 | A4GALT,CYB5R3 | c.-49+27554T>C (n.-49+27554T>C) c.709T>C (p.Phe237Leu) | |
| 22 | g.42693243A>T | CA324732234 | A4GALT,CYB5R3 | c.-49+27554T>A (n.-49+27554T>A) c.709T>A (p.Phe237Ile) | dbSNP |
| 22 | g.42693244G>A | CA515070887 | A4GALT,CYB5R3 | c.-49+27553C>T (n.-49+27553C>T) c.708C>T (p.Asp236=) | gnomAD v4 |
| 22 | g.42693244G>C | CA411811573 | A4GALT,CYB5R3 | c.-49+27553C>G (n.-49+27553C>G) c.708C>G (p.Asp236Glu) | gnomAD v4 |
| 22 | g.42693244G>T | CA411811575 | A4GALT,CYB5R3 | c.-49+27553C>A (n.-49+27553C>A) c.708C>A (p.Asp236Glu) | |
| 22 | g.42693245T>A | CA411811577 | A4GALT,CYB5R3 | c.-49+27552A>T (n.-49+27552A>T) c.707A>T (p.Asp236Val) | |
| 22 | g.42693245T>C | CA411811578 | A4GALT,CYB5R3 | c.-49+27552A>G (n.-49+27552A>G) c.707A>G (p.Asp236Gly) | gnomAD v4 |
| 22 | g.42693245T>G | CA411811579 | A4GALT,CYB5R3 | c.-49+27552A>C (n.-49+27552A>C) c.707A>C (p.Asp236Ala) | |
| 22 | g.42693246C>A | CA411811580 | A4GALT,CYB5R3 | c.-49+27551G>T (n.-49+27551G>T) c.706G>T (p.Asp236Tyr) | |
| 22 | g.42693246C>G | CA411811581 | A4GALT,CYB5R3 | c.-49+27551G>C (n.-49+27551G>C) c.706G>C (p.Asp236His) | |
| 22 | g.42693246C>T | CA411811582 | A4GALT,CYB5R3 | c.-49+27551G>A (n.-49+27551G>A) c.706G>A (p.Asp236Asn) | |
| 22 | g.42693247C>A | CA515070898 | A4GALT,CYB5R3 | c.-49+27550G>T (n.-49+27550G>T) c.705G>T (p.Arg235=) | |
| 22 | g.42693247C= | CA2406870197 | A4GALT,CYB5R3 | c.-49+27550G= (n.-49+27550G=) c.705G= (p.Arg235=) | |
| 22 | g.42693247C>G | CA515070899 | A4GALT,CYB5R3 | c.-49+27550G>C (n.-49+27550G>C) c.705G>C (p.Arg235=) | |
| 22 | g.42693247C>T | CA515070901 | A4GALT,CYB5R3 | c.-49+27550G>A (n.-49+27550G>A) c.705G>A (p.Arg235=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693248C>A | CA411811587 | A4GALT,CYB5R3 | c.-49+27549G>T (n.-49+27549G>T) c.704G>T (p.Arg235Leu) | dbSNP |
| 22 | g.42693248C= | CA2406870198 | A4GALT,CYB5R3 | c.-49+27549G= (n.-49+27549G=) c.704G= (p.Arg235=) | |
| 22 | g.42693248C>G | CA411811585 | A4GALT,CYB5R3 | c.-49+27549G>C (n.-49+27549G>C) c.704G>C (p.Arg235Pro) | |
| 22 | g.42693248C>T | CA10270234 | A4GALT,CYB5R3 | c.-49+27549G>A (n.-49+27549G>A) c.704G>A (p.Arg235Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693249G>A | CA10270235 | A4GALT,CYB5R3 | c.-49+27548C>T (n.-49+27548C>T) c.703C>T (p.Arg235Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693249G>C | CA411811593 | A4GALT,CYB5R3 | c.-49+27548C>G (n.-49+27548C>G) c.703C>G (p.Arg235Gly) | |
| 22 | g.42693249G= | CA2406870199 | A4GALT,CYB5R3 | c.-49+27548C= (n.-49+27548C=) c.703C= (p.Arg235=) | |
| 22 | g.42693249G>T | CA10270236 | A4GALT,CYB5R3 | c.-49+27548C>A (n.-49+27548C>A) c.703C>A (p.Arg235=) | dbSNP ExAC gnomAD v2 |
| 22 | g.42693250C>A | CA411811595 | A4GALT,CYB5R3 | c.-49+27547G>T (n.-49+27547G>T) c.702G>T (p.Met234Ile) | |
| 22 | g.42693250C= | CA2406870200 | A4GALT,CYB5R3 | c.-49+27547G= (n.-49+27547G=) c.702G= (p.Met234=) | |
| 22 | g.42693250C>G | CA411811599 | A4GALT,CYB5R3 | c.-49+27547G>C (n.-49+27547G>C) c.702G>C (p.Met234Ile) | |
| 22 | g.42693250C>T | CA411811597 | A4GALT,CYB5R3 | c.-49+27547G>A (n.-49+27547G>A) c.702G>A (p.Met234Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693251A>C | CA411811602 | A4GALT,CYB5R3 | c.-49+27546T>G (n.-49+27546T>G) c.701T>G (p.Met234Arg) | |
| 22 | g.42693251A>G | CA411811603 | A4GALT,CYB5R3 | c.-49+27546T>C (n.-49+27546T>C) c.701T>C (p.Met234Thr) | |
| 22 | g.42693251A>T | CA411811606 | A4GALT,CYB5R3 | c.-49+27546T>A (n.-49+27546T>A) c.701T>A (p.Met234Lys) | |
| 22 | g.42693252T>A | CA411811608 | A4GALT,CYB5R3 | c.-49+27545A>T (n.-49+27545A>T) c.700A>T (p.Met234Leu) | |
| 22 | g.42693252T>C | CA10270237 | A4GALT,CYB5R3 | c.-49+27545A>G (n.-49+27545A>G) c.700A>G (p.Met234Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693252T>G | CA411811611 | A4GALT,CYB5R3 | c.-49+27545A>C (n.-49+27545A>C) c.700A>C (p.Met234Leu) | dbSNP |
| 22 | g.42693252T= | CA2406870201 | A4GALT,CYB5R3 | c.-49+27545A= (n.-49+27545A=) c.700A= (p.Met234=) | |
| 22 | g.42693253G>A | CA515070916 | A4GALT,CYB5R3 | c.-49+27544C>T (n.-49+27544C>T) c.699C>T (p.Cys233=) | |
| 22 | g.42693253G>C | CA411811613 | A4GALT,CYB5R3 | c.-49+27544C>G (n.-49+27544C>G) c.699C>G (p.Cys233Trp) | |
| 22 | g.42693253G>T | CA411811615 | A4GALT,CYB5R3 | c.-49+27544C>A (n.-49+27544C>A) c.699C>A (p.Cys233Ter) | |
| 22 | g.42693254C>A | CA411811617 | A4GALT,CYB5R3 | c.-49+27543G>T (n.-49+27543G>T) c.698G>T (p.Cys233Phe) | |
| 22 | g.42693254C>G | CA411811618 | A4GALT,CYB5R3 | c.-49+27543G>C (n.-49+27543G>C) c.698G>C (p.Cys233Ser) | |
| 22 | g.42693254C>T | CA411811620 | A4GALT,CYB5R3 | c.-49+27543G>A (n.-49+27543G>A) c.698G>A (p.Cys233Tyr) | |
| 22 | g.42693255A>C | CA411811625 | A4GALT,CYB5R3 | c.-49+27542T>G (n.-49+27542T>G) c.697T>G (p.Cys233Gly) | gnomAD v4 |
| 22 | g.42693255A>G | CA411811621 | A4GALT,CYB5R3 | c.-49+27542T>C (n.-49+27542T>C) c.697T>C (p.Cys233Arg) | gnomAD v4 |
| 22 | g.42693255A>T | CA411811623 | A4GALT,CYB5R3 | c.-49+27542T>A (n.-49+27542T>A) c.697T>A (p.Cys233Ser) | |
| 22 | g.42693256C>A | CA515070920 | A4GALT,CYB5R3 | c.-49+27541G>T (n.-49+27541G>T) c.696G>T (p.Leu232=) | |
| 22 | g.42693256C>G | CA515070921 | A4GALT,CYB5R3 | c.-49+27541G>C (n.-49+27541G>C) c.696G>C (p.Leu232=) | gnomAD v4 |
| 22 | g.42693256C>T | CA515070922 | A4GALT,CYB5R3 | c.-49+27541G>A (n.-49+27541G>A) c.696G>A (p.Leu232=) | |
| 22 | g.42693257A>C | CA411811627 | A4GALT,CYB5R3 | c.-49+27540T>G (n.-49+27540T>G) c.695T>G (p.Leu232Arg) | |
| 22 | g.42693257A>G | CA411811629 | A4GALT,CYB5R3 | c.-49+27540T>C (n.-49+27540T>C) c.695T>C (p.Leu232Pro) | gnomAD v4 |
| 22 | g.42693257A>T | CA411811631 | A4GALT,CYB5R3 | c.-49+27540T>A (n.-49+27540T>A) c.695T>A (p.Leu232Gln) | |
| 22 | g.42693258G>A | CA515070929 | A4GALT,CYB5R3 | c.-49+27539C>T (n.-49+27539C>T) c.694C>T (p.Leu232=) | |
| 22 | g.42693258G>C | CA411811634 | A4GALT,CYB5R3 | c.-49+27539C>G (n.-49+27539C>G) c.694C>G (p.Leu232Val) | |
| 22 | g.42693258G>T | CA411811635 | A4GALT,CYB5R3 | c.-49+27539C>A (n.-49+27539C>A) c.694C>A (p.Leu232Met) | |
| 22 | g.42693259C>A | CA515070934 | A4GALT,CYB5R3 | c.-49+27538G>T (n.-49+27538G>T) c.693G>T (p.Ala231=) | |
| 22 | g.42693259C= | CA2406870202 | A4GALT,CYB5R3 | c.-49+27538G= (n.-49+27538G=) c.693G= (p.Ala231=) | |
| 22 | g.42693259C>G | CA515070936 | A4GALT,CYB5R3 | c.-49+27538G>C (n.-49+27538G>C) c.693G>C (p.Ala231=) | |
| 22 | g.42693259C>T | CA515070938 | A4GALT,CYB5R3 | c.-49+27538G>A (n.-49+27538G>A) c.693G>A (p.Ala231=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693260G>A | CA411811636 | A4GALT,CYB5R3 | c.-49+27537C>T (n.-49+27537C>T) c.692C>T (p.Ala231Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693260G>C | CA411811638 | A4GALT,CYB5R3 | c.-49+27537C>G (n.-49+27537C>G) c.692C>G (p.Ala231Gly) | |
| 22 | g.42693260G= | CA2406870203 | A4GALT,CYB5R3 | c.-49+27537C= (n.-49+27537C=) c.692C= (p.Ala231=) | |
| 22 | g.42693260G>T | CA411811640 | A4GALT,CYB5R3 | c.-49+27537C>A (n.-49+27537C>A) c.692C>A (p.Ala231Glu) | gnomAD v4 |
| 22 | g.42693261C>A | CA411811642 | A4GALT,CYB5R3 | c.-49+27536G>T (n.-49+27536G>T) c.691G>T (p.Ala231Ser) | |
| 22 | g.42693261C>G | CA411811645 | A4GALT,CYB5R3 | c.-49+27536G>C (n.-49+27536G>C) c.691G>C (p.Ala231Pro) | |
| 22 | g.42693261C>T | CA411811647 | A4GALT,CYB5R3 | c.-49+27536G>A (n.-49+27536G>A) c.691G>A (p.Ala231Thr) | |
| 22 | g.42693262C>A | CA411811651 | A4GALT,CYB5R3 | c.-49+27535G>T (n.-49+27535G>T) c.690G>T (p.Met230Ile) | |
| 22 | g.42693262C>G | CA411811653 | A4GALT,CYB5R3 | c.-49+27535G>C (n.-49+27535G>C) c.690G>C (p.Met230Ile) | |
| 22 | g.42693262C>T | CA411811649 | A4GALT,CYB5R3 | c.-49+27535G>A (n.-49+27535G>A) c.690G>A (p.Met230Ile) | |
| 22 | g.42693263A>C | CA411811656 | A4GALT,CYB5R3 | c.-49+27534T>G (n.-49+27534T>G) c.689T>G (p.Met230Arg) | |
| 22 | g.42693263A>G | CA411811657 | A4GALT,CYB5R3 | c.-49+27534T>C (n.-49+27534T>C) c.689T>C (p.Met230Thr) | gnomAD v4 |
| 22 | g.42693263A>T | CA411811659 | A4GALT,CYB5R3 | c.-49+27534T>A (n.-49+27534T>A) c.689T>A (p.Met230Lys) | |
| 22 | g.42693264T>A | CA411811661 | A4GALT,CYB5R3 | c.-49+27533A>T (n.-49+27533A>T) c.688A>T (p.Met230Leu) | dbSNP |
| 22 | g.42693264T>C | CA411811663 | A4GALT,CYB5R3 | c.-49+27533A>G (n.-49+27533A>G) c.688A>G (p.Met230Val) | dbSNP gnomAD v4 COSMIC |
| 22 | g.42693264T>G | CA411811665 | A4GALT,CYB5R3 | c.-49+27533A>C (n.-49+27533A>C) c.688A>C (p.Met230Leu) | |
| 22 | g.42693264T= | CA2406870204 | A4GALT,CYB5R3 | c.-49+27533A= (n.-49+27533A=) c.688A= (p.Met230=) | |
| 22 | g.42693265G>A | CA10270238 | A4GALT,CYB5R3 | c.-49+27532C>T (n.-49+27532C>T) c.687C>T (p.Phe229=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693265G>C | CA411811669 | A4GALT,CYB5R3 | c.-49+27532C>G (n.-49+27532C>G) c.687C>G (p.Phe229Leu) | |
| 22 | g.42693265G= | CA2406870205 | A4GALT,CYB5R3 | c.-49+27532C= (n.-49+27532C=) c.687C= (p.Phe229=) | |
| 22 | g.42693265G>T | CA411811671 | A4GALT,CYB5R3 | c.-49+27532C>A (n.-49+27532C>A) c.687C>A (p.Phe229Leu) | gnomAD v4 |
| 22 | g.42693266A>C | CA411811674 | A4GALT,CYB5R3 | c.-49+27531T>G (n.-49+27531T>G) c.686T>G (p.Phe229Cys) | |
| 22 | g.42693266A>G | CA411811676 | A4GALT,CYB5R3 | c.-49+27531T>C (n.-49+27531T>C) c.686T>C (p.Phe229Ser) | |
| 22 | g.42693266A>T | CA411811678 | A4GALT,CYB5R3 | c.-49+27531T>A (n.-49+27531T>A) c.686T>A (p.Phe229Tyr) | gnomAD v4 |
| 22 | g.42693267A= | CA2406870206 | A4GALT,CYB5R3 | c.-49+27530T= (n.-49+27530T=) c.685T= (p.Phe229=) | |
| 22 | g.42693267A>C | CA411811682 | A4GALT,CYB5R3 | c.-49+27530T>G (n.-49+27530T>G) c.685T>G (p.Phe229Val) | |
| 22 | g.42693267A>G | CA411811684 | A4GALT,CYB5R3 | c.-49+27530T>C (n.-49+27530T>C) c.685T>C (p.Phe229Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693267A>T | CA411811679 | A4GALT,CYB5R3 | c.-49+27530T>A (n.-49+27530T>A) c.685T>A (p.Phe229Ile) | |
| 22 | g.42693268C>A | CA411811686 | A4GALT,CYB5R3 | c.-49+27529G>T (n.-49+27529G>T) c.684G>T (p.Glu228Asp) | |
| 22 | g.42693268C= | CA2406870207 | A4GALT,CYB5R3 | c.-49+27529G= (n.-49+27529G=) c.684G= (p.Glu228=) | |
| 22 | g.42693268C>G | CA411811688 | A4GALT,CYB5R3 | c.-49+27529G>C (n.-49+27529G>C) c.684G>C (p.Glu228Asp) | |
| 22 | g.42693268C>T | CA515070961 | A4GALT,CYB5R3 | c.-49+27529G>A (n.-49+27529G>A) c.684G>A (p.Glu228=) | dbSNP |
| 22 | g.42693269T>A | CA411811691 | A4GALT,CYB5R3 | c.-49+27528A>T (n.-49+27528A>T) c.683A>T (p.Glu228Val) | |
| 22 | g.42693269T>C | CA411811692 | A4GALT,CYB5R3 | c.-49+27528A>G (n.-49+27528A>G) c.683A>G (p.Glu228Gly) | |
| 22 | g.42693269T>G | CA411811695 | A4GALT,CYB5R3 | c.-49+27528A>C (n.-49+27528A>C) c.683A>C (p.Glu228Ala) | |
| 22 | g.42693270C>A | CA411811700 | A4GALT,CYB5R3 | c.-49+27527G>T (n.-49+27527G>T) c.682G>T (p.Glu228Ter) | |
| 22 | g.42693270C= | CA2406870208 | A4GALT,CYB5R3 | c.-49+27527G= (n.-49+27527G=) c.682G= (p.Glu228=) | |
| 22 | g.42693270C>G | CA411811697 | A4GALT,CYB5R3 | c.-49+27527G>C (n.-49+27527G>C) c.682G>C (p.Glu228Gln) | dbSNP |
| 22 | g.42693270C>T | CA10270239 | A4GALT,CYB5R3 | c.-49+27527G>A (n.-49+27527G>A) c.682G>A (p.Glu228Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693271G>A | CA515070964 | A4GALT,CYB5R3 | c.-49+27526C>T (n.-49+27526C>T) c.681C>T (p.His227=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693271G>C | CA411811702 | A4GALT,CYB5R3 | c.-49+27526C>G (n.-49+27526C>G) c.681C>G (p.His227Gln) | gnomAD v4 |
| 22 | g.42693271G= | CA2406870209 | A4GALT,CYB5R3 | c.-49+27526C= (n.-49+27526C=) c.681C= (p.His227=) | |
| 22 | g.42693271G>T | CA411811704 | A4GALT,CYB5R3 | c.-49+27526C>A (n.-49+27526C>A) c.681C>A (p.His227Gln) | COSMIC |
| 22 | g.42693272T>A | CA411811707 | A4GALT,CYB5R3 | c.-49+27525A>T (n.-49+27525A>T) c.680A>T (p.His227Leu) | dbSNP |
| 22 | g.42693272T>C | CA411811709 | A4GALT,CYB5R3 | c.-49+27525A>G (n.-49+27525A>G) c.680A>G (p.His227Arg) | |
| 22 | g.42693272T>G | CA411811710 | A4GALT,CYB5R3 | c.-49+27525A>C (n.-49+27525A>C) c.680A>C (p.His227Pro) | |
| 22 | g.42693272T= | CA2406870210 | A4GALT,CYB5R3 | c.-49+27525A= (n.-49+27525A=) c.680A= (p.His227=) | |
| 22 | g.42693273G>A | CA411811714 | A4GALT,CYB5R3 | c.-49+27524C>T (n.-49+27524C>T) c.679C>T (p.His227Tyr) | |
| 22 | g.42693273G>C | CA411811712 | A4GALT,CYB5R3 | c.-49+27524C>G (n.-49+27524C>G) c.679C>G (p.His227Asp) | |
| 22 | g.42693273G>T | CA411811711 | A4GALT,CYB5R3 | c.-49+27524C>A (n.-49+27524C>A) c.679C>A (p.His227Asn) | |
| 22 | g.42693274C>A | CA515070972 | A4GALT,CYB5R3 | c.-49+27523G>T (n.-49+27523G>T) c.678G>T (p.Arg226=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693274C= | CA2406870211 | A4GALT,CYB5R3 | c.-49+27523G= (n.-49+27523G=) c.678G= (p.Arg226=) | |
| 22 | g.42693274C>G | CA515070975 | A4GALT,CYB5R3 | c.-49+27523G>C (n.-49+27523G>C) c.678G>C (p.Arg226=) | |
| 22 | g.42693274C>T | CA515070974 | A4GALT,CYB5R3 | c.-49+27523G>A (n.-49+27523G>A) c.678G>A (p.Arg226=) | |
| 22 | g.42693275C>A | CA411811716 | A4GALT,CYB5R3 | c.-49+27522G>T (n.-49+27522G>T) c.677G>T (p.Arg226Leu) | |
| 22 | g.42693275C= | CA2406870212 | A4GALT,CYB5R3 | c.-49+27522G= (n.-49+27522G=) c.677G= (p.Arg226=) | |
| 22 | g.42693275C>G | CA411811718 | A4GALT,CYB5R3 | c.-49+27522G>C (n.-49+27522G>C) c.677G>C (p.Arg226Pro) | |
| 22 | g.42693275C>T | CA10270240 | A4GALT,CYB5R3 | c.-49+27522G>A (n.-49+27522G>A) c.677G>A (p.Arg226Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693276G>A | CA411811720 | A4GALT,CYB5R3 | c.-49+27521C>T (n.-49+27521C>T) c.676C>T (p.Arg226Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693276G>C | CA411811722 | A4GALT,CYB5R3 | c.-49+27521C>G (n.-49+27521C>G) c.676C>G (p.Arg226Gly) | |
| 22 | g.42693276G= | CA2406870213 | A4GALT,CYB5R3 | c.-49+27521C= (n.-49+27521C=) c.676C= (p.Arg226=) | |
| 22 | g.42693276G>T | CA515070981 | A4GALT,CYB5R3 | c.-49+27521C>A (n.-49+27521C>A) c.676C>A (p.Arg226=) | gnomAD v4 |
| 22 | g.42693277G>A | CA10270241 | A4GALT,CYB5R3 | c.-49+27520C>T (n.-49+27520C>T) c.675C>T (p.Arg225=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693277G>C | CA515070983 | A4GALT,CYB5R3 | c.-49+27520C>G (n.-49+27520C>G) c.675C>G (p.Arg225=) | |
| 22 | g.42693277G= | CA2406870214 | A4GALT,CYB5R3 | c.-49+27520C= (n.-49+27520C=) c.675C= (p.Arg225=) | |
| 22 | g.42693277G>T | CA515070985 | A4GALT,CYB5R3 | c.-49+27520C>A (n.-49+27520C>A) c.675C>A (p.Arg225=) | |
| 22 | g.42693278C>A | CA411811729 | A4GALT,CYB5R3 | c.-49+27519G>T (n.-49+27519G>T) c.674G>T (p.Arg225Leu) | |
| 22 | g.42693278C= | CA2406870215 | A4GALT,CYB5R3 | c.-49+27519G= (n.-49+27519G=) c.674G= (p.Arg225=) | |
| 22 | g.42693278C>G | CA411811727 | A4GALT,CYB5R3 | c.-49+27519G>C (n.-49+27519G>C) c.674G>C (p.Arg225Pro) | dbSNP |
| 22 | g.42693278C>T | CA411811726 | A4GALT,CYB5R3 | c.-49+27519G>A (n.-49+27519G>A) c.674G>A (p.Arg225His) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693279G>A | CA10270242 | A4GALT,CYB5R3 | c.-49+27518C>T (n.-49+27518C>T) c.673C>T (p.Arg225Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693279G>C | CA411811733 | A4GALT,CYB5R3 | c.-49+27518C>G (n.-49+27518C>G) c.673C>G (p.Arg225Gly) | |
| 22 | g.42693279G= | CA2406870216 | A4GALT,CYB5R3 | c.-49+27518C= (n.-49+27518C=) c.673C= (p.Arg225=) | |
| 22 | g.42693279G>T | CA411811735 | A4GALT,CYB5R3 | c.-49+27518C>A (n.-49+27518C>A) c.673C>A (p.Arg225Ser) | |
| 22 | g.42693280C>A | CA411811737 | A4GALT,CYB5R3 | c.-49+27517G>T (n.-49+27517G>T) c.672G>T (p.Glu224Asp) | |
| 22 | g.42693280C= | CA2406870217 | A4GALT,CYB5R3 | c.-49+27517G= (n.-49+27517G=) c.672G= (p.Glu224=) | |
| 22 | g.42693280C>G | CA411811739 | A4GALT,CYB5R3 | c.-49+27517G>C (n.-49+27517G>C) c.672G>C (p.Glu224Asp) | |
| 22 | g.42693280C>T | CA324732250 | A4GALT,CYB5R3 | c.-49+27517G>A (n.-49+27517G>A) c.672G>A (p.Glu224=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693281T>A | CA411811742 | A4GALT,CYB5R3 | c.-49+27516A>T (n.-49+27516A>T) c.671A>T (p.Glu224Val) | |
| 22 | g.42693281T>C | CA411811744 | A4GALT,CYB5R3 | c.-49+27516A>G (n.-49+27516A>G) c.671A>G (p.Glu224Gly) | |
| 22 | g.42693281T>G | CA411811743 | A4GALT,CYB5R3 | c.-49+27516A>C (n.-49+27516A>C) c.671A>C (p.Glu224Ala) | |
| 22 | g.42693282C>A | CA10270244 | A4GALT,CYB5R3 | c.-49+27515G>T (n.-49+27515G>T) c.670G>T (p.Glu224Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693282C= | CA2406870218 | A4GALT,CYB5R3 | c.-49+27515G= (n.-49+27515G=) c.670G= (p.Glu224=) | |
| 22 | g.42693282C>G | CA411811746 | A4GALT,CYB5R3 | c.-49+27515G>C (n.-49+27515G>C) c.670G>C (p.Glu224Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693282C>T | CA10270243 | A4GALT,CYB5R3 | c.-49+27515G>A (n.-49+27515G>A) c.670G>A (p.Glu224Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693283G>A | CA10270245 | A4GALT,CYB5R3 | c.-49+27514C>T (n.-49+27514C>T) c.669C>T (p.Phe223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693283G>C | CA324732258 | A4GALT,CYB5R3 | c.-49+27514C>G (n.-49+27514C>G) c.669C>G (p.Phe223Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693283G= | CA2406870219 | A4GALT,CYB5R3 | c.-49+27514C= (n.-49+27514C=) c.669C= (p.Phe223=) | |
| 22 | g.42693283G>T | CA411811750 | A4GALT,CYB5R3 | c.-49+27514C>A (n.-49+27514C>A) c.669C>A (p.Phe223Leu) | gnomAD v4 |
| 22 | g.42693284A>C | CA411811753 | A4GALT,CYB5R3 | c.-49+27513T>G (n.-49+27513T>G) c.668T>G (p.Phe223Cys) | |
| 22 | g.42693284A>G | CA411811754 | A4GALT,CYB5R3 | c.-49+27513T>C (n.-49+27513T>C) c.668T>C (p.Phe223Ser) | |
| 22 | g.42693284A>T | CA411811756 | A4GALT,CYB5R3 | c.-49+27513T>A (n.-49+27513T>A) c.668T>A (p.Phe223Tyr) | |
| 22 | g.42693285A>C | CA411811759 | A4GALT,CYB5R3 | c.-49+27512T>G (n.-49+27512T>G) c.667T>G (p.Phe223Val) | |
| 22 | g.42693285A>G | CA411811761 | A4GALT,CYB5R3 | c.-49+27512T>C (n.-49+27512T>C) c.667T>C (p.Phe223Leu) | gnomAD v4 |
| 22 | g.42693285A>T | CA411811763 | A4GALT,CYB5R3 | c.-49+27512T>A (n.-49+27512T>A) c.667T>A (p.Phe223Ile) | |
| 22 | g.42693286G>A | CA515071009 | A4GALT,CYB5R3 | c.-49+27511C>T (n.-49+27511C>T) c.666C>T (p.Ala222=) | COSMIC |
| 22 | g.42693286G>C | CA515071011 | A4GALT,CYB5R3 | c.-49+27511C>G (n.-49+27511C>G) c.666C>G (p.Ala222=) | |
| 22 | g.42693286G>T | CA515071018 | A4GALT,CYB5R3 | c.-49+27511C>A (n.-49+27511C>A) c.666C>A (p.Ala222=) | |
| 22 | g.42693287G>A | CA411811765 | A4GALT,CYB5R3 | c.-49+27510C>T (n.-49+27510C>T) c.665C>T (p.Ala222Val) | |
| 22 | g.42693287G>C | CA411811769 | A4GALT,CYB5R3 | c.-49+27510C>G (n.-49+27510C>G) c.665C>G (p.Ala222Gly) | |
| 22 | g.42693287G>T | CA411811767 | A4GALT,CYB5R3 | c.-49+27510C>A (n.-49+27510C>A) c.665C>A (p.Ala222Asp) | |
| 22 | g.42693288C>A | CA411811770 | A4GALT,CYB5R3 | c.-49+27509G>T (n.-49+27509G>T) c.664G>T (p.Ala222Ser) | |
| 22 | g.42693288C>G | CA411811772 | A4GALT,CYB5R3 | c.-49+27509G>C (n.-49+27509G>C) c.664G>C (p.Ala222Pro) | |
| 22 | g.42693288C>T | CA411811773 | A4GALT,CYB5R3 | c.-49+27509G>A (n.-49+27509G>A) c.664G>A (p.Ala222Thr) | |
| 22 | g.42693289C>A | CA515071039 | A4GALT,CYB5R3 | c.-49+27508G>T (n.-49+27508G>T) c.663G>T (p.Leu221=) | |
| 22 | g.42693289C= | CA2406870220 | A4GALT,CYB5R3 | c.-49+27508G= (n.-49+27508G=) c.663G= (p.Leu221=) | |
| 22 | g.42693289C>G | CA515071027 | A4GALT,CYB5R3 | c.-49+27508G>C (n.-49+27508G>C) c.663G>C (p.Leu221=) | |
| 22 | g.42693289C>T | CA515071030 | A4GALT,CYB5R3 | c.-49+27508G>A (n.-49+27508G>A) c.663G>A (p.Leu221=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693290A>C | CA411811776 | A4GALT,CYB5R3 | c.-49+27507T>G (n.-49+27507T>G) c.662T>G (p.Leu221Arg) | |
| 22 | g.42693290A>G | CA411811777 | A4GALT,CYB5R3 | c.-49+27507T>C (n.-49+27507T>C) c.662T>C (p.Leu221Pro) | gnomAD v4 |
| 22 | g.42693290A>T | CA411811780 | A4GALT,CYB5R3 | c.-49+27507T>A (n.-49+27507T>A) c.662T>A (p.Leu221Gln) | |
| 22 | g.42693291G>A | CA10270246 | A4GALT,CYB5R3 | c.-49+27506C>T (n.-49+27506C>T) c.661C>T (p.Leu221=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693291G>C | CA411811782 | A4GALT,CYB5R3 | c.-49+27506C>G (n.-49+27506C>G) c.661C>G (p.Leu221Val) | gnomAD v4 |
| 22 | g.42693291G= | CA2406870221 | A4GALT,CYB5R3 | c.-49+27506C= (n.-49+27506C=) c.661C= (p.Leu221=) | |
| 22 | g.42693291G>T | CA411811784 | A4GALT,CYB5R3 | c.-49+27506C>A (n.-49+27506C>A) c.661C>A (p.Leu221Met) | |
| 22 | g.42693292G>A | CA515071046 | A4GALT,CYB5R3 | c.-49+27505C>T (n.-49+27505C>T) c.660C>T (p.Phe220=) | |
| 22 | g.42693292G>C | CA411811787 | A4GALT,CYB5R3 | c.-49+27505C>G (n.-49+27505C>G) c.660C>G (p.Phe220Leu) | |
| 22 | g.42693292G>T | CA411811788 | A4GALT,CYB5R3 | c.-49+27505C>A (n.-49+27505C>A) c.660C>A (p.Phe220Leu) | |
| 22 | g.42693293A>C | CA411811790 | A4GALT,CYB5R3 | c.-49+27504T>G (n.-49+27504T>G) c.659T>G (p.Phe220Cys) | |
| 22 | g.42693293A>G | CA411811792 | A4GALT,CYB5R3 | c.-49+27504T>C (n.-49+27504T>C) c.659T>C (p.Phe220Ser) | |
| 22 | g.42693293A>T | CA411811793 | A4GALT,CYB5R3 | c.-49+27504T>A (n.-49+27504T>A) c.659T>A (p.Phe220Tyr) | |
| 22 | g.42693294A>C | CA411811794 | A4GALT,CYB5R3 | c.-49+27503T>G (n.-49+27503T>G) c.658T>G (p.Phe220Val) | |
| 22 | g.42693294A>G | CA411811798 | A4GALT,CYB5R3 | c.-49+27503T>C (n.-49+27503T>C) c.658T>C (p.Phe220Leu) | |
| 22 | g.42693294A>T | CA411811796 | A4GALT,CYB5R3 | c.-49+27503T>A (n.-49+27503T>A) c.658T>A (p.Phe220Ile) | |
| 22 | g.42693294_42693295delinsAC | CA2406870222 | A4GALT,CYB5R3 | c.-49+27502_-49+27503delinsGT (n.-49+27502_-49+27503delinsGT) c.657_658delinsGT (p.Ala219=) | |
| 22 | g.42693295del | CA2406870223 | A4GALT,CYB5R3 | c.-49+27502del (n.-49+27502del) c.657del (p.Phe220SerfsTer?) | dbSNP |
| 22 | g.42693295C>A | CA515071050 | A4GALT,CYB5R3 | c.-49+27502G>T (n.-49+27502G>T) c.657G>T (p.Ala219=) | |
| 22 | g.42693295C= | CA2406870224 | A4GALT,CYB5R3 | c.-49+27502G= (n.-49+27502G=) c.657G= (p.Ala219=) | |
| 22 | g.42693295C>G | CA515071051 | A4GALT,CYB5R3 | c.-49+27502G>C (n.-49+27502G>C) c.657G>C (p.Ala219=) | |
| 22 | g.42693295C>T | CA515071052 | A4GALT,CYB5R3 | c.-49+27502G>A (n.-49+27502G>A) c.657G>A (p.Ala219=) | dbSNP gnomAD v4 |
| 22 | g.42693296G>A | CA10270247 | A4GALT,CYB5R3 | c.-49+27501C>T (n.-49+27501C>T) c.656C>T (p.Ala219Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693296G>C | CA411811800 | A4GALT,CYB5R3 | c.-49+27501C>G (n.-49+27501C>G) c.656C>G (p.Ala219Gly) | |
| 22 | g.42693296G= | CA2406870225 | A4GALT,CYB5R3 | c.-49+27501C= (n.-49+27501C=) c.656C= (p.Ala219=) | |
| 22 | g.42693296G>T | CA411811802 | A4GALT,CYB5R3 | c.-49+27501C>A (n.-49+27501C>A) c.656C>A (p.Ala219Glu) | dbSNP |
| 22 | g.42693297C>A | CA411811805 | A4GALT,CYB5R3 | c.-49+27500G>T (n.-49+27500G>T) c.655G>T (p.Ala219Ser) | |
| 22 | g.42693297C>G | CA411811806 | A4GALT,CYB5R3 | c.-49+27500G>C (n.-49+27500G>C) c.655G>C (p.Ala219Pro) | |
| 22 | g.42693297C>T | CA411811809 | A4GALT,CYB5R3 | c.-49+27500G>A (n.-49+27500G>A) c.655G>A (p.Ala219Thr) | gnomAD v4 COSMIC |
| 22 | g.42693298G>A | CA324732265 | A4GALT,CYB5R3 | c.-49+27499C>T (n.-49+27499C>T) c.654C>T (p.Gly218=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693298G>C | CA515071059 | A4GALT,CYB5R3 | c.-49+27499C>G (n.-49+27499C>G) c.654C>G (p.Gly218=) | |
| 22 | g.42693298G= | CA2406870226 | A4GALT,CYB5R3 | c.-49+27499C= (n.-49+27499C=) c.654C= (p.Gly218=) | |
| 22 | g.42693298G>T | CA515071060 | A4GALT,CYB5R3 | c.-49+27499C>A (n.-49+27499C>A) c.654C>A (p.Gly218=) | |
| 22 | g.42693299C>A | CA411811813 | A4GALT,CYB5R3 | c.-49+27498G>T (n.-49+27498G>T) c.653G>T (p.Gly218Val) | |
| 22 | g.42693299C>G | CA411811815 | A4GALT,CYB5R3 | c.-49+27498G>C (n.-49+27498G>C) c.653G>C (p.Gly218Ala) | |
| 22 | g.42693299C>T | CA411811817 | A4GALT,CYB5R3 | c.-49+27498G>A (n.-49+27498G>A) c.653G>A (p.Gly218Asp) | |
| 22 | g.42693300C>A | CA411811818 | A4GALT,CYB5R3 | c.-49+27497G>T (n.-49+27497G>T) c.652G>T (p.Gly218Cys) | |
| 22 | g.42693300C= | CA2406870227 | A4GALT,CYB5R3 | c.-49+27497G= (n.-49+27497G=) c.652G= (p.Gly218=) | |
| 22 | g.42693300C>G | CA411811821 | A4GALT,CYB5R3 | c.-49+27497G>C (n.-49+27497G>C) c.652G>C (p.Gly218Arg) | gnomAD v4 |
| 22 | g.42693300C>T | CA324732268 | A4GALT,CYB5R3 | c.-49+27497G>A (n.-49+27497G>A) c.652G>A (p.Gly218Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693301G>A | CA10270248 | A4GALT,CYB5R3 | c.-49+27496C>T (n.-49+27496C>T) c.651C>T (p.Asn217=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693301G>C | CA411811826 | A4GALT,CYB5R3 | c.-49+27496C>G (n.-49+27496C>G) c.651C>G (p.Asn217Lys) | |
| 22 | g.42693301G= | CA2406870228 | A4GALT,CYB5R3 | c.-49+27496C= (n.-49+27496C=) c.651C= (p.Asn217=) | |
| 22 | g.42693301G>T | CA411811824 | A4GALT,CYB5R3 | c.-49+27496C>A (n.-49+27496C>A) c.651C>A (p.Asn217Lys) | gnomAD v4 |
| 22 | g.42693302T>A | CA411811829 | A4GALT,CYB5R3 | c.-49+27495A>T (n.-49+27495A>T) c.650A>T (p.Asn217Ile) | |
| 22 | g.42693302T>C | CA411811831 | A4GALT,CYB5R3 | c.-49+27495A>G (n.-49+27495A>G) c.650A>G (p.Asn217Ser) | |
| 22 | g.42693302T>G | CA411811830 | A4GALT,CYB5R3 | c.-49+27495A>C (n.-49+27495A>C) c.650A>C (p.Asn217Thr) | |
| 22 | g.42693303T>A | CA411811834 | A4GALT,CYB5R3 | c.-49+27494A>T (n.-49+27494A>T) c.649A>T (p.Asn217Tyr) | |
| 22 | g.42693303T>C | CA411811837 | A4GALT,CYB5R3 | c.-49+27494A>G (n.-49+27494A>G) c.649A>G (p.Asn217Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693303T>G | CA411811836 | A4GALT,CYB5R3 | c.-49+27494A>C (n.-49+27494A>C) c.649A>C (p.Asn217His) | |
| 22 | g.42693303T= | CA2406870229 | A4GALT,CYB5R3 | c.-49+27494A= (n.-49+27494A=) c.649A= (p.Asn217=) | |
| 22 | g.42693304G>A | CA515071078 | A4GALT,CYB5R3 | c.-49+27493C>T (n.-49+27493C>T) c.648C>T (p.Leu216=) | COSMIC |
| 22 | g.42693304G>C | CA515071088 | A4GALT,CYB5R3 | c.-49+27493C>G (n.-49+27493C>G) c.648C>G (p.Leu216=) | |
| 22 | g.42693304G>T | CA515071090 | A4GALT,CYB5R3 | c.-49+27493C>A (n.-49+27493C>A) c.648C>A (p.Leu216=) | |
| 22 | g.42693305A= | CA2406870230 | A4GALT,CYB5R3 | c.-49+27492T= (n.-49+27492T=) c.647T= (p.Leu216=) | |
| 22 | g.42693305A>C | CA324732270 | A4GALT,CYB5R3 | c.-49+27492T>G (n.-49+27492T>G) c.647T>G (p.Leu216Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693305A>G | CA411811844 | A4GALT,CYB5R3 | c.-49+27492T>C (n.-49+27492T>C) c.647T>C (p.Leu216Pro) | |
| 22 | g.42693305A>T | CA411811841 | A4GALT,CYB5R3 | c.-49+27492T>A (n.-49+27492T>A) c.647T>A (p.Leu216His) | dbSNP gnomAD v4 |
| 22 | g.42693306G>A | CA411811847 | A4GALT,CYB5R3 | c.-49+27491C>T (n.-49+27491C>T) c.646C>T (p.Leu216Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693306G>C | CA411811849 | A4GALT,CYB5R3 | c.-49+27491C>G (n.-49+27491C>G) c.646C>G (p.Leu216Val) | |
| 22 | g.42693306G= | CA2406870231 | A4GALT,CYB5R3 | c.-49+27491C= (n.-49+27491C=) c.646C= (p.Leu216=) | |
| 22 | g.42693306G>T | CA411811850 | A4GALT,CYB5R3 | c.-49+27491C>A (n.-49+27491C>A) c.646C>A (p.Leu216Ile) | |
| 22 | g.42693310_42693319del | CA2577739307 | A4GALT,CYB5R3 | c.-49+27482_-49+27491del (n.-49+27482_-49+27491del) c.637_646del (p.Arg213SerfsTer?) | |
| 22 | g.42693307G>A | CA515072269 | A4GALT,CYB5R3 | c.-49+27490C>T (n.-49+27490C>T) c.645C>T (p.Val215=) | gnomAD v4 |
| 22 | g.42693307G>C | CA515072271 | A4GALT,CYB5R3 | c.-49+27490C>G (n.-49+27490C>G) c.645C>G (p.Val215=) | dbSNP |
| 22 | g.42693307G= | CA2406870232 | A4GALT,CYB5R3 | c.-49+27490C= (n.-49+27490C=) c.645C= (p.Val215=) | |
| 22 | g.42693307G>T | CA515072273 | A4GALT,CYB5R3 | c.-49+27490C>A (n.-49+27490C>A) c.645C>A (p.Val215=) | |
| 22 | g.42693308A>C | CA411811853 | A4GALT,CYB5R3 | c.-49+27489T>G (n.-49+27489T>G) c.644T>G (p.Val215Gly) | |
| 22 | g.42693308A>G | CA411811855 | A4GALT,CYB5R3 | c.-49+27489T>C (n.-49+27489T>C) c.644T>C (p.Val215Ala) | |
| 22 | g.42693308A>T | CA411811856 | A4GALT,CYB5R3 | c.-49+27489T>A (n.-49+27489T>A) c.644T>A (p.Val215Asp) | |
| 22 | g.42693309C>A | CA411811858 | A4GALT,CYB5R3 | c.-49+27488G>T (n.-49+27488G>T) c.643G>T (p.Val215Phe) | |
| 22 | g.42693309C= | CA2406870233 | A4GALT,CYB5R3 | c.-49+27488G= (n.-49+27488G=) c.643G= (p.Val215=) | |
| 22 | g.42693309C>G | CA10270250 | A4GALT,CYB5R3 | c.-49+27488G>C (n.-49+27488G>C) c.643G>C (p.Val215Leu) | dbSNP ExAC gnomAD v2 |
| 22 | g.42693309C>T | CA10270249 | A4GALT,CYB5R3 | c.-49+27488G>A (n.-49+27488G>A) c.643G>A (p.Val215Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693310del | CA2657079472 | A4GALT,CYB5R3 | c.-49+27487del (n.-49+27487del) c.642del (p.Tyr214Ter) | gnomAD v4 |
| 22 | g.42693310G>A | CA515072286 | A4GALT,CYB5R3 | c.-49+27487C>T (n.-49+27487C>T) c.642C>T (p.Tyr214=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693310G>C | CA411811861 | A4GALT,CYB5R3 | c.-49+27487C>G (n.-49+27487C>G) c.642C>G (p.Tyr214Ter) | COSMIC |
| 22 | g.42693310G= | CA2406870234 | A4GALT,CYB5R3 | c.-49+27487C= (n.-49+27487C=) c.642C= (p.Tyr214=) | |
| 22 | g.42693310G>T | CA411811863 | A4GALT,CYB5R3 | c.-49+27487C>A (n.-49+27487C>A) c.642C>A (p.Tyr214Ter) | gnomAD v4 |
| 22 | g.42693311T>A | CA411811865 | A4GALT,CYB5R3 | c.-49+27486A>T (n.-49+27486A>T) c.641A>T (p.Tyr214Phe) | |
| 22 | g.42693311T>C | CA411811869 | A4GALT,CYB5R3 | c.-49+27486A>G (n.-49+27486A>G) c.641A>G (p.Tyr214Cys) | dbSNP gnomAD v4 |
| 22 | g.42693311T>G | CA411811866 | A4GALT,CYB5R3 | c.-49+27486A>C (n.-49+27486A>C) c.641A>C (p.Tyr214Ser) | |
| 22 | g.42693311_42693312del | CA2657079473 | A4GALT,CYB5R3 | c.-49+27485_-49+27486del (n.-49+27485_-49+27486del) c.640_641del (p.Tyr214ArgfsTer?) | gnomAD v4 |
| 22 | g.42693312A= | CA2406870235 | A4GALT,CYB5R3 | c.-49+27485T= (n.-49+27485T=) c.640T= (p.Tyr214=) | |
| 22 | g.42693312A>C | CA411811871 | A4GALT,CYB5R3 | c.-49+27485T>G (n.-49+27485T>G) c.640T>G (p.Tyr214Asp) | |
| 22 | g.42693312A>G | CA411811872 | A4GALT,CYB5R3 | c.-49+27485T>C (n.-49+27485T>C) c.640T>C (p.Tyr214His) | |
| 22 | g.42693312A>T | CA324732274 | A4GALT,CYB5R3 | c.-49+27485T>A (n.-49+27485T>A) c.640T>A (p.Tyr214Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693312_42693322delinsAGCGGGACTGG | CA2406870236 | A4GALT,CYB5R3 | c.-49+27475_-49+27485delinsCCAGTCCCGCT (n.-49+27475_-49+27485delinsCCAGTCCCGCT) c.630_640delinsCCAGTCCCGCT (p.Thr210=) | |
| 22 | g.42693313G>A | CA515072296 | A4GALT,CYB5R3 | c.-49+27484C>T (n.-49+27484C>T) c.639C>T (p.Arg213=) | gnomAD v4 |
| 22 | g.42693313G>C | CA515072297 | A4GALT,CYB5R3 | c.-49+27484C>G (n.-49+27484C>G) c.639C>G (p.Arg213=) | |
| 22 | g.42693313G>T | CA515072299 | A4GALT,CYB5R3 | c.-49+27484C>A (n.-49+27484C>A) c.639C>A (p.Arg213=) | |
| 22 | g.42693314_42693321del | CA2657079474 | A4GALT,CYB5R3 | c.-49+27477_-49+27484del (n.-49+27477_-49+27484del) c.632_639del (p.Gln211LeufsTer?) | gnomAD v4 |
| 22 | g.42693314_42693323del | CA639829272 | A4GALT,CYB5R3 | c.-49+27475_-49+27484del (n.-49+27475_-49+27484del) c.630_639del (p.Gln211ThrfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693314C>A | CA411811877 | A4GALT,CYB5R3 | c.-49+27483G>T (n.-49+27483G>T) c.638G>T (p.Arg213Leu) | gnomAD v4 |
| 22 | g.42693314C= | CA2406870237 | A4GALT,CYB5R3 | c.-49+27483G= (n.-49+27483G=) c.638G= (p.Arg213=) | |
| 22 | g.42693314C>G | CA411811879 | A4GALT,CYB5R3 | c.-49+27483G>C (n.-49+27483G>C) c.638G>C (p.Arg213Pro) | |
| 22 | g.42693314C>T | CA411811881 | A4GALT,CYB5R3 | c.-49+27483G>A (n.-49+27483G>A) c.638G>A (p.Arg213His) | dbSNP gnomAD v4 |
| 22 | g.42693315G>A | CA10270251 | A4GALT,CYB5R3 | c.-49+27482C>T (n.-49+27482C>T) c.637C>T (p.Arg213Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693315G>C | CA411811884 | A4GALT,CYB5R3 | c.-49+27482C>G (n.-49+27482C>G) c.637C>G (p.Arg213Gly) | |
| 22 | g.42693315G= | CA2406870238 | A4GALT,CYB5R3 | c.-49+27482C= (n.-49+27482C=) c.637C= (p.Arg213=) | |
| 22 | g.42693315G>T | CA411811887 | A4GALT,CYB5R3 | c.-49+27482C>A (n.-49+27482C>A) c.637C>A (p.Arg213Ser) | |
| 22 | g.42693316G>A | CA515072318 | A4GALT,CYB5R3 | c.-49+27481C>T (n.-49+27481C>T) c.636C>T (p.Ser212=) | |
| 22 | g.42693316G>C | CA515072317 | A4GALT,CYB5R3 | c.-49+27481C>G (n.-49+27481C>G) c.636C>G (p.Ser212=) | |
| 22 | g.42693316G>T | CA515072320 | A4GALT,CYB5R3 | c.-49+27481C>A (n.-49+27481C>A) c.636C>A (p.Ser212=) | |
| 22 | g.42693317G>A | CA411811891 | A4GALT,CYB5R3 | c.-49+27480C>T (n.-49+27480C>T) c.635C>T (p.Ser212Phe) | COSMIC |
| 22 | g.42693317G>C | CA411811893 | A4GALT,CYB5R3 | c.-49+27480C>G (n.-49+27480C>G) c.635C>G (p.Ser212Cys) | |
| 22 | g.42693317G>T | CA411811889 | A4GALT,CYB5R3 | c.-49+27480C>A (n.-49+27480C>A) c.635C>A (p.Ser212Tyr) | |
| 22 | g.42693318A>C | CA411811894 | A4GALT,CYB5R3 | c.-49+27479T>G (n.-49+27479T>G) c.634T>G (p.Ser212Ala) | |
| 22 | g.42693318A>G | CA411811895 | A4GALT,CYB5R3 | c.-49+27479T>C (n.-49+27479T>C) c.634T>C (p.Ser212Pro) | |
| 22 | g.42693318A>T | CA411811897 | A4GALT,CYB5R3 | c.-49+27479T>A (n.-49+27479T>A) c.634T>A (p.Ser212Thr) | |
| 22 | g.42693319C>A | CA411811899 | A4GALT,CYB5R3 | c.-49+27478G>T (n.-49+27478G>T) c.633G>T (p.Gln211His) | |
| 22 | g.42693319C>G | CA411811900 | A4GALT,CYB5R3 | c.-49+27478G>C (n.-49+27478G>C) c.633G>C (p.Gln211His) | |
| 22 | g.42693319C>T | CA515072326 | A4GALT,CYB5R3 | c.-49+27478G>A (n.-49+27478G>A) c.633G>A (p.Gln211=) | |
| 22 | g.42693320T>A | CA411811902 | A4GALT,CYB5R3 | c.-49+27477A>T (n.-49+27477A>T) c.632A>T (p.Gln211Leu) | |
| 22 | g.42693320T>C | CA411811904 | A4GALT,CYB5R3 | c.-49+27477A>G (n.-49+27477A>G) c.632A>G (p.Gln211Arg) | |
| 22 | g.42693320T>G | CA411811906 | A4GALT,CYB5R3 | c.-49+27477A>C (n.-49+27477A>C) c.632A>C (p.Gln211Pro) | |
| 22 | g.42693321G>A | CA411811908 | A4GALT,CYB5R3 | c.-49+27476C>T (n.-49+27476C>T) c.631C>T (p.Gln211Ter) | gnomAD v4 |
| 22 | g.42693321G>C | CA130289 | A4GALT,CYB5R3 | c.-49+27476C>G (n.-49+27476C>G) c.631C>G (p.Gln211Glu) | ClinVar dbSNP |
| 22 | g.42693321G= | CA2406870239 | A4GALT,CYB5R3 | c.-49+27476C= (n.-49+27476C=) c.631C= (p.Gln211=) | |
| 22 | g.42693321G>T | CA411811911 | A4GALT,CYB5R3 | c.-49+27476C>A (n.-49+27476C>A) c.631C>A (p.Gln211Lys) | |
| 22 | g.42693322G>A | CA515072332 | A4GALT,CYB5R3 | c.-49+27475C>T (n.-49+27475C>T) c.630C>T (p.Thr210=) | gnomAD v4 |
| 22 | g.42693322G>C | CA515072334 | A4GALT,CYB5R3 | c.-49+27475C>G (n.-49+27475C>G) c.630C>G (p.Thr210=) | gnomAD v4 |
| 22 | g.42693322G>T | CA515072336 | A4GALT,CYB5R3 | c.-49+27475C>A (n.-49+27475C>A) c.630C>A (p.Thr210=) | |
| 22 | g.42693323G>A | CA411811916 | A4GALT,CYB5R3 | c.-49+27474C>T (n.-49+27474C>T) c.629C>T (p.Thr210Ile) | gnomAD v4 |
| 22 | g.42693323G>C | CA411811914 | A4GALT,CYB5R3 | c.-49+27474C>G (n.-49+27474C>G) c.629C>G (p.Thr210Ser) | |
| 22 | g.42693323G>T | CA411811912 | A4GALT,CYB5R3 | c.-49+27474C>A (n.-49+27474C>A) c.629C>A (p.Thr210Asn) | |
| 22 | g.42693324del | CA2819076052 | A4GALT,CYB5R3 | c.-49+27473del (n.-49+27473del) c.628del (p.Thr210ProfsTer?) | |
| 22 | g.42693324T>A | CA411811918 | A4GALT,CYB5R3 | c.-49+27473A>T (n.-49+27473A>T) c.628A>T (p.Thr210Ser) | |
| 22 | g.42693324T>C | CA411811920 | A4GALT,CYB5R3 | c.-49+27473A>G (n.-49+27473A>G) c.628A>G (p.Thr210Ala) | |
| 22 | g.42693324T>G | CA10270252 | A4GALT,CYB5R3 | c.-49+27473A>C (n.-49+27473A>C) c.628A>C (p.Thr210Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693324T= | CA2406870240 | A4GALT,CYB5R3 | c.-49+27473A= (n.-49+27473A=) c.628A= (p.Thr210=) | |
| 22 | g.42693325G>A | CA10270253 | A4GALT,CYB5R3 | c.-49+27472C>T (n.-49+27472C>T) c.627C>T (p.Gly209=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693325G>C | CA515072350 | A4GALT,CYB5R3 | c.-49+27472C>G (n.-49+27472C>G) c.627C>G (p.Gly209=) | gnomAD v4 |
| 22 | g.42693325G= | CA2406870241 | A4GALT,CYB5R3 | c.-49+27472C= (n.-49+27472C=) c.627C= (p.Gly209=) | |
| 22 | g.42693325G>T | CA515072352 | A4GALT,CYB5R3 | c.-49+27472C>A (n.-49+27472C>A) c.627C>A (p.Gly209=) | |
| 22 | g.42693326C>A | CA10270254 | A4GALT,CYB5R3 | c.-49+27471G>T (n.-49+27471G>T) c.626G>T (p.Gly209Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693326C= | CA2406870242 | A4GALT,CYB5R3 | c.-49+27471G= (n.-49+27471G=) c.626G= (p.Gly209=) | |
| 22 | g.42693326C>G | CA411811926 | A4GALT,CYB5R3 | c.-49+27471G>C (n.-49+27471G>C) c.626G>C (p.Gly209Ala) | |
| 22 | g.42693326C>T | CA411811928 | A4GALT,CYB5R3 | c.-49+27471G>A (n.-49+27471G>A) c.626G>A (p.Gly209Asp) | dbSNP |
| 22 | g.42693327C>A | CA411811930 | A4GALT,CYB5R3 | c.-49+27470G>T (n.-49+27470G>T) c.625G>T (p.Gly209Cys) | |
| 22 | g.42693327C>G | CA411811932 | A4GALT,CYB5R3 | c.-49+27470G>C (n.-49+27470G>C) c.625G>C (p.Gly209Arg) | |
| 22 | g.42693327C>T | CA411811934 | A4GALT,CYB5R3 | c.-49+27470G>A (n.-49+27470G>A) c.625G>A (p.Gly209Ser) | |
| 22 | g.42693328C>A | CA515072361 | A4GALT,CYB5R3 | c.-49+27469G>T (n.-49+27469G>T) c.624G>T (p.Leu208=) | |
| 22 | g.42693328C>G | CA515072362 | A4GALT,CYB5R3 | c.-49+27469G>C (n.-49+27469G>C) c.624G>C (p.Leu208=) | |
| 22 | g.42693328C>T | CA515072363 | A4GALT,CYB5R3 | c.-49+27469G>A (n.-49+27469G>A) c.624G>A (p.Leu208=) | gnomAD v4 |
| 22 | g.42693329A>C | CA411811936 | A4GALT,CYB5R3 | c.-49+27468T>G (n.-49+27468T>G) c.623T>G (p.Leu208Arg) | |
| 22 | g.42693329A>G | CA411811939 | A4GALT,CYB5R3 | c.-49+27468T>C (n.-49+27468T>C) c.623T>C (p.Leu208Pro) | |
| 22 | g.42693329A>T | CA411811940 | A4GALT,CYB5R3 | c.-49+27468T>A (n.-49+27468T>A) c.623T>A (p.Leu208Gln) | |
| 22 | g.42693330G>A | CA515072369 | A4GALT,CYB5R3 | c.-49+27467C>T (n.-49+27467C>T) c.622C>T (p.Leu208=) | |
| 22 | g.42693330G>C | CA411811944 | A4GALT,CYB5R3 | c.-49+27467C>G (n.-49+27467C>G) c.622C>G (p.Leu208Val) | |
| 22 | g.42693330G>T | CA411811942 | A4GALT,CYB5R3 | c.-49+27467C>A (n.-49+27467C>A) c.622C>A (p.Leu208Met) |