| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42692926_42692948dup | CA2657079055 | A4GALT,CYB5R3 | c.-49+27853_-49+27875dup (n.-49+27853_-49+27875dup) c.1008_1030dup (p.Thr344SerfsTer14) | gnomAD v4 |
| 22 | g.42692927C>A | CA411810009 | A4GALT,CYB5R3 | c.-49+27870G>T (n.-49+27870G>T) c.1025G>T (p.Cys342Phe) | |
| 22 | g.42692927C>G | CA411810010 | A4GALT,CYB5R3 | c.-49+27870G>C (n.-49+27870G>C) c.1025G>C (p.Cys342Ser) | |
| 22 | g.42692927C>T | CA411810011 | A4GALT,CYB5R3 | c.-49+27870G>A (n.-49+27870G>A) c.1025G>A (p.Cys342Tyr) | gnomAD v4 |
| 22 | g.42692928A>C | CA411810012 | A4GALT,CYB5R3 | c.-49+27869T>G (n.-49+27869T>G) c.1024T>G (p.Cys342Gly) | |
| 22 | g.42692928A>G | CA411810013 | A4GALT,CYB5R3 | c.-49+27869T>C (n.-49+27869T>C) c.1024T>C (p.Cys342Arg) | |
| 22 | g.42692928A>T | CA411810014 | A4GALT,CYB5R3 | c.-49+27869T>A (n.-49+27869T>A) c.1024T>A (p.Cys342Ser) | |
| 22 | g.42692929G>A | CA515070463 | A4GALT,CYB5R3 | c.-49+27868C>T (n.-49+27868C>T) c.1023C>T (p.Tyr341=) | gnomAD v4 |
| 22 | g.42692929G>C | CA411810015 | A4GALT,CYB5R3 | c.-49+27868C>G (n.-49+27868C>G) c.1023C>G (p.Tyr341Ter) | |
| 22 | g.42692929G>T | CA411810016 | A4GALT,CYB5R3 | c.-49+27868C>A (n.-49+27868C>A) c.1023C>A (p.Tyr341Ter) | gnomAD v4 |
| 22 | g.42692930T>A | CA411810017 | A4GALT,CYB5R3 | c.-49+27867A>T (n.-49+27867A>T) c.1022A>T (p.Tyr341Phe) | |
| 22 | g.42692930T>C | CA10270157 | A4GALT,CYB5R3 | c.-49+27867A>G (n.-49+27867A>G) c.1022A>G (p.Tyr341Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692930T>G | CA411810018 | A4GALT,CYB5R3 | c.-49+27867A>C (n.-49+27867A>C) c.1022A>C (p.Tyr341Ser) | |
| 22 | g.42692930T= | CA2406870029 | A4GALT,CYB5R3 | c.-49+27867A= (n.-49+27867A=) c.1022A= (p.Tyr341=) | |
| 22 | g.42692931A= | CA2406870030 | A4GALT,CYB5R3 | c.-49+27866T= (n.-49+27866T=) c.1021T= (p.Tyr341=) | |
| 22 | g.42692931A>C | CA411810020 | A4GALT,CYB5R3 | c.-49+27866T>G (n.-49+27866T>G) c.1021T>G (p.Tyr341Asp) | |
| 22 | g.42692931A>G | CA10270158 | A4GALT,CYB5R3 | c.-49+27866T>C (n.-49+27866T>C) c.1021T>C (p.Tyr341His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692931A>T | CA411810019 | A4GALT,CYB5R3 | c.-49+27866T>A (n.-49+27866T>A) c.1021T>A (p.Tyr341Asn) | |
| 22 | g.42692932G>A | CA515070466 | A4GALT,CYB5R3 | c.-49+27865C>T (n.-49+27865C>T) c.1020C>T (p.Arg340=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692932G>C | CA515070465 | A4GALT,CYB5R3 | c.-49+27865C>G (n.-49+27865C>G) c.1020C>G (p.Arg340=) | |
| 22 | g.42692932G= | CA2406870031 | A4GALT,CYB5R3 | c.-49+27865C= (n.-49+27865C=) c.1020C= (p.Arg340=) | |
| 22 | g.42692932G>T | CA515070464 | A4GALT,CYB5R3 | c.-49+27865C>A (n.-49+27865C>A) c.1020C>A (p.Arg340=) | gnomAD v4 |
| 22 | g.42692933C>A | CA411810021 | A4GALT,CYB5R3 | c.-49+27864G>T (n.-49+27864G>T) c.1019G>T (p.Arg340Leu) | |
| 22 | g.42692933C= | CA2406870032 | A4GALT,CYB5R3 | c.-49+27864G= (n.-49+27864G=) c.1019G= (p.Arg340=) | |
| 22 | g.42692933C>G | CA411810022 | A4GALT,CYB5R3 | c.-49+27864G>C (n.-49+27864G>C) c.1019G>C (p.Arg340Pro) | |
| 22 | g.42692933C>T | CA10270159 | A4GALT,CYB5R3 | c.-49+27864G>A (n.-49+27864G>A) c.1019G>A (p.Arg340His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692934G>A | CA10270160 | A4GALT,CYB5R3 | c.-49+27863C>T (n.-49+27863C>T) c.1018C>T (p.Arg340Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692934G>C | CA411810024 | A4GALT,CYB5R3 | c.-49+27863C>G (n.-49+27863C>G) c.1018C>G (p.Arg340Gly) | gnomAD v4 |
| 22 | g.42692934G= | CA2406870033 | A4GALT,CYB5R3 | c.-49+27863C= (n.-49+27863C=) c.1018C= (p.Arg340=) | |
| 22 | g.42692934G>T | CA411810023 | A4GALT,CYB5R3 | c.-49+27863C>A (n.-49+27863C>A) c.1018C>A (p.Arg340Ser) | gnomAD v4 |
| 22 | g.42692935G>A | CA515070467 | A4GALT,CYB5R3 | c.-49+27862C>T (n.-49+27862C>T) c.1017C>T (p.Ala339=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692935G>C | CA515070468 | A4GALT,CYB5R3 | c.-49+27862C>G (n.-49+27862C>G) c.1017C>G (p.Ala339=) | |
| 22 | g.42692935G= | CA2406870034 | A4GALT,CYB5R3 | c.-49+27862C= (n.-49+27862C=) c.1017C= (p.Ala339=) | |
| 22 | g.42692935G>T | CA515070469 | A4GALT,CYB5R3 | c.-49+27862C>A (n.-49+27862C>A) c.1017C>A (p.Ala339=) | |
| 22 | g.42692936G>A | CA411810025 | A4GALT,CYB5R3 | c.-49+27861C>T (n.-49+27861C>T) c.1016C>T (p.Ala339Val) | gnomAD v4 COSMIC |
| 22 | g.42692936G>C | CA411810026 | A4GALT,CYB5R3 | c.-49+27861C>G (n.-49+27861C>G) c.1016C>G (p.Ala339Gly) | |
| 22 | g.42692936G>T | CA411810027 | A4GALT,CYB5R3 | c.-49+27861C>A (n.-49+27861C>A) c.1016C>A (p.Ala339Asp) | gnomAD v4 |
| 22 | g.42692937C>A | CA411810028 | A4GALT,CYB5R3 | c.-49+27860G>T (n.-49+27860G>T) c.1015G>T (p.Ala339Ser) | gnomAD v4 COSMIC |
| 22 | g.42692937C= | CA2406870035 | A4GALT,CYB5R3 | c.-49+27860G= (n.-49+27860G=) c.1015G= (p.Ala339=) | |
| 22 | g.42692937C>G | CA411810029 | A4GALT,CYB5R3 | c.-49+27860G>C (n.-49+27860G>C) c.1015G>C (p.Ala339Pro) | |
| 22 | g.42692937C>T | CA411810030 | A4GALT,CYB5R3 | c.-49+27860G>A (n.-49+27860G>A) c.1015G>A (p.Ala339Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42692938A>C | CA411810031 | A4GALT,CYB5R3 | c.-49+27859T>G (n.-49+27859T>G) c.1014T>G (p.His338Gln) | |
| 22 | g.42692938A>G | CA515070470 | A4GALT,CYB5R3 | c.-49+27859T>C (n.-49+27859T>C) c.1014T>C (p.His338=) | |
| 22 | g.42692938A>T | CA411810032 | A4GALT,CYB5R3 | c.-49+27859T>A (n.-49+27859T>A) c.1014T>A (p.His338Gln) | |
| 22 | g.42692939T>A | CA411810033 | A4GALT,CYB5R3 | c.-49+27858A>T (n.-49+27858A>T) c.1013A>T (p.His338Leu) | |
| 22 | g.42692939T>C | CA411810034 | A4GALT,CYB5R3 | c.-49+27858A>G (n.-49+27858A>G) c.1013A>G (p.His338Arg) | dbSNP |
| 22 | g.42692939T>G | CA411810035 | A4GALT,CYB5R3 | c.-49+27858A>C (n.-49+27858A>C) c.1013A>C (p.His338Pro) | gnomAD v4 |
| 22 | g.42692939T= | CA2406870036 | A4GALT,CYB5R3 | c.-49+27858A= (n.-49+27858A=) c.1013A= (p.His338=) | |
| 22 | g.42692940G>A | CA10270161 | A4GALT,CYB5R3 | c.-49+27857C>T (n.-49+27857C>T) c.1012C>T (p.His338Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692940G>C | CA411810036 | A4GALT,CYB5R3 | c.-49+27857C>G (n.-49+27857C>G) c.1012C>G (p.His338Asp) |