| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693123T>A | CA411810634 | A4GALT,CYB5R3 | c.-49+27674A>T (n.-49+27674A>T) c.829A>T (p.Thr277Ser) | |
| 22 | g.42693123T>C | CA411810636 | A4GALT,CYB5R3 | c.-49+27674A>G (n.-49+27674A>G) c.829A>G (p.Thr277Ala) | |
| 22 | g.42693123T>G | CA411810637 | A4GALT,CYB5R3 | c.-49+27674A>C (n.-49+27674A>C) c.829A>C (p.Thr277Pro) | dbSNP |
| 22 | g.42693123T= | CA2406870126 | A4GALT,CYB5R3 | c.-49+27674A= (n.-49+27674A=) c.829A= (p.Thr277=) | |
| 22 | g.42693124G>A | CA515072072 | A4GALT,CYB5R3 | c.-49+27673C>T (n.-49+27673C>T) c.828C>T (p.Val276=) | |
| 22 | g.42693124G>C | CA515072074 | A4GALT,CYB5R3 | c.-49+27673C>G (n.-49+27673C>G) c.828C>G (p.Val276=) | |
| 22 | g.42693124G>T | CA515072076 | A4GALT,CYB5R3 | c.-49+27673C>A (n.-49+27673C>A) c.828C>A (p.Val276=) | |
| 22 | g.42693125A>C | CA411810640 | A4GALT,CYB5R3 | c.-49+27672T>G (n.-49+27672T>G) c.827T>G (p.Val276Gly) | |
| 22 | g.42693125A>G | CA411810642 | A4GALT,CYB5R3 | c.-49+27672T>C (n.-49+27672T>C) c.827T>C (p.Val276Ala) | dbSNP |
| 22 | g.42693125A>T | CA411810644 | A4GALT,CYB5R3 | c.-49+27672T>A (n.-49+27672T>A) c.827T>A (p.Val276Asp) | |
| 22 | g.42693126C>A | CA411810646 | A4GALT,CYB5R3 | c.-49+27671G>T (n.-49+27671G>T) c.826G>T (p.Val276Phe) | gnomAD v4 |
| 22 | g.42693126C= | CA2406870127 | A4GALT,CYB5R3 | c.-49+27671G= (n.-49+27671G=) c.826G= (p.Val276=) | |
| 22 | g.42693126C>G | CA411810648 | A4GALT,CYB5R3 | c.-49+27671G>C (n.-49+27671G>C) c.826G>C (p.Val276Leu) | |
| 22 | g.42693126C>T | CA10270199 | A4GALT,CYB5R3 | c.-49+27671G>A (n.-49+27671G>A) c.826G>A (p.Val276Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693127G>A | CA10270200 | A4GALT,CYB5R3 | c.-49+27670C>T (n.-49+27670C>T) c.825C>T (p.Gly275=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693127G>C | CA515072083 | A4GALT,CYB5R3 | c.-49+27670C>G (n.-49+27670C>G) c.825C>G (p.Gly275=) | |
| 22 | g.42693127G= | CA2406870128 | A4GALT,CYB5R3 | c.-49+27670C= (n.-49+27670C=) c.825C= (p.Gly275=) | |
| 22 | g.42693127G>T | CA515072084 | A4GALT,CYB5R3 | c.-49+27670C>A (n.-49+27670C>A) c.825C>A (p.Gly275=) | gnomAD v4 |
| 22 | g.42693127_42693137del | CA2577739306 | A4GALT,CYB5R3 | c.-49+27660_-49+27670del (n.-49+27660_-49+27670del) c.815_825del (p.Ala272GlyfsTer7) | gnomAD v4 |
| 22 | g.42693128C>A | CA411810652 | A4GALT,CYB5R3 | c.-49+27669G>T (n.-49+27669G>T) c.824G>T (p.Gly275Val) | |
| 22 | g.42693128C= | CA2406870129 | A4GALT,CYB5R3 | c.-49+27669G= (n.-49+27669G=) c.824G= (p.Gly275=) | |
| 22 | g.42693128C>G | CA411810655 | A4GALT,CYB5R3 | c.-49+27669G>C (n.-49+27669G>C) c.824G>C (p.Gly275Ala) | |
| 22 | g.42693128C>T | CA10270201 | A4GALT,CYB5R3 | c.-49+27669G>A (n.-49+27669G>A) c.824G>A (p.Gly275Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693129C>A | CA411810658 | A4GALT,CYB5R3 | c.-49+27668G>T (n.-49+27668G>T) c.823G>T (p.Gly275Cys) | dbSNP gnomAD v2 |
| 22 | g.42693129C= | CA2406870130 | A4GALT,CYB5R3 | c.-49+27668G= (n.-49+27668G=) c.823G= (p.Gly275=) | |
| 22 | g.42693129C>G | CA411810660 | A4GALT,CYB5R3 | c.-49+27668G>C (n.-49+27668G>C) c.823G>C (p.Gly275Arg) | |
| 22 | g.42693129C>T | CA10270202 | A4GALT,CYB5R3 | c.-49+27668G>A (n.-49+27668G>A) c.823G>A (p.Gly275Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693130G>A | CA10270203 | A4GALT,CYB5R3 | c.-49+27667C>T (n.-49+27667C>T) c.822C>T (p.Arg274=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693130G>C | CA515072098 | A4GALT,CYB5R3 | c.-49+27667C>G (n.-49+27667C>G) c.822C>G (p.Arg274=) | |
| 22 | g.42693130G= | CA2406870131 | A4GALT,CYB5R3 | c.-49+27667C= (n.-49+27667C=) c.822C= (p.Arg274=) | |
| 22 | g.42693130G>T | CA515072100 | A4GALT,CYB5R3 | c.-49+27667C>A (n.-49+27667C>A) c.822C>A (p.Arg274=) | |
| 22 | g.42693131C>A | CA411810665 | A4GALT,CYB5R3 | c.-49+27666G>T (n.-49+27666G>T) c.821G>T (p.Arg274Leu) | |
| 22 | g.42693131C= | CA2406870132 | A4GALT,CYB5R3 | c.-49+27666G= (n.-49+27666G=) c.821G= (p.Arg274=) | |
| 22 | g.42693131C>G | CA411810667 | A4GALT,CYB5R3 | c.-49+27666G>C (n.-49+27666G>C) c.821G>C (p.Arg274Pro) | |
| 22 | g.42693131C>T | CA10270204 | A4GALT,CYB5R3 | c.-49+27666G>A (n.-49+27666G>A) c.821G>A (p.Arg274His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693132G>A | CA10270205 | A4GALT,CYB5R3 | c.-49+27665C>T (n.-49+27665C>T) c.820C>T (p.Arg274Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693132G>C | CA411810672 | A4GALT,CYB5R3 | c.-49+27665C>G (n.-49+27665C>G) c.820C>G (p.Arg274Gly) | |
| 22 | g.42693132G= | CA2406870133 | A4GALT,CYB5R3 | c.-49+27665C= (n.-49+27665C=) c.820C= (p.Arg274=) | |
| 22 | g.42693132G>T | CA411810674 | A4GALT,CYB5R3 | c.-49+27665C>A (n.-49+27665C>A) c.820C>A (p.Arg274Ser) | |
| 22 | g.42693133G>A | CA515072108 | A4GALT,CYB5R3 | c.-49+27664C>T (n.-49+27664C>T) c.819C>T (p.Cys273=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693133G>C | CA411810677 | A4GALT,CYB5R3 | c.-49+27664C>G (n.-49+27664C>G) c.819C>G (p.Cys273Trp) | |
| 22 | g.42693133G= | CA2406870134 | A4GALT,CYB5R3 | c.-49+27664C= (n.-49+27664C=) c.819C= (p.Cys273=) | |
| 22 | g.42693133G>T | CA411810679 | A4GALT,CYB5R3 | c.-49+27664C>A (n.-49+27664C>A) c.819C>A (p.Cys273Ter) | |
| 22 | g.42693134C>A | CA411810681 | A4GALT,CYB5R3 | c.-49+27663G>T (n.-49+27663G>T) c.818G>T (p.Cys273Phe) | |
| 22 | g.42693134C= | CA2406870135 | A4GALT,CYB5R3 | c.-49+27663G= (n.-49+27663G=) c.818G= (p.Cys273=) | |
| 22 | g.42693134C>G | CA411810683 | A4GALT,CYB5R3 | c.-49+27663G>C (n.-49+27663G>C) c.818G>C (p.Cys273Ser) | |
| 22 | g.42693134C>T | CA411810685 | A4GALT,CYB5R3 | c.-49+27663G>A (n.-49+27663G>A) c.818G>A (p.Cys273Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693135A>C | CA411810688 | A4GALT,CYB5R3 | c.-49+27662T>G (n.-49+27662T>G) c.817T>G (p.Cys273Gly) | |
| 22 | g.42693135A>G | CA411810689 | A4GALT,CYB5R3 | c.-49+27662T>C (n.-49+27662T>C) c.817T>C (p.Cys273Arg) | |
| 22 | g.42693135A>T | CA411810691 | A4GALT,CYB5R3 | c.-49+27662T>A (n.-49+27662T>A) c.817T>A (p.Cys273Ser) |