| 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.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) | |
| 22 | g.42692940G= | CA2406870037 | A4GALT,CYB5R3 | c.-49+27857C= (n.-49+27857C=) c.1012C= (p.His338=) | |
| 22 | g.42692940G>T | CA411810037 | A4GALT,CYB5R3 | c.-49+27857C>A (n.-49+27857C>A) c.1012C>A (p.His338Asn) | gnomAD v4 |
| 22 | g.42692941C>A | CA10270162 | A4GALT,CYB5R3 | c.-49+27856G>T (n.-49+27856G>T) c.1011G>T (p.Leu337=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692941C= | CA2406870038 | A4GALT,CYB5R3 | c.-49+27856G= (n.-49+27856G=) c.1011G= (p.Leu337=) | |
| 22 | g.42692941C>G | CA515070471 | A4GALT,CYB5R3 | c.-49+27856G>C (n.-49+27856G>C) c.1011G>C (p.Leu337=) | dbSNP |
| 22 | g.42692941C>T | CA515070472 | A4GALT,CYB5R3 | c.-49+27856G>A (n.-49+27856G>A) c.1011G>A (p.Leu337=) | gnomAD v4 |
| 22 | g.42692942A>C | CA411810038 | A4GALT,CYB5R3 | c.-49+27855T>G (n.-49+27855T>G) c.1010T>G (p.Leu337Arg) | |
| 22 | g.42692942A>G | CA411810039 | A4GALT,CYB5R3 | c.-49+27855T>C (n.-49+27855T>C) c.1010T>C (p.Leu337Pro) | |
| 22 | g.42692942A>T | CA411810040 | A4GALT,CYB5R3 | c.-49+27855T>A (n.-49+27855T>A) c.1010T>A (p.Leu337Gln) | |
| 22 | g.42692943G>A | CA515070473 | A4GALT,CYB5R3 | c.-49+27854C>T (n.-49+27854C>T) c.1009C>T (p.Leu337=) | |
| 22 | g.42692943G>C | CA411810041 | A4GALT,CYB5R3 | c.-49+27854C>G (n.-49+27854C>G) c.1009C>G (p.Leu337Val) | |
| 22 | g.42692943G>T | CA411810042 | A4GALT,CYB5R3 | c.-49+27854C>A (n.-49+27854C>A) c.1009C>A (p.Leu337Met) | gnomAD v4 |
| 22 | g.42692944C>A | CA411810043 | A4GALT,CYB5R3 | c.-49+27853G>T (n.-49+27853G>T) c.1008G>T (p.Gln336His) | |
| 22 | g.42692944C= | CA2406870039 | A4GALT,CYB5R3 | c.-49+27853G= (n.-49+27853G=) c.1008G= (p.Gln336=) | |
| 22 | g.42692944C>G | CA411810044 | A4GALT,CYB5R3 | c.-49+27853G>C (n.-49+27853G>C) c.1008G>C (p.Gln336His) | |
| 22 | g.42692944C>T | CA515070474 | A4GALT,CYB5R3 | c.-49+27853G>A (n.-49+27853G>A) c.1008G>A (p.Gln336=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692945T>A | CA411810045 | A4GALT,CYB5R3 | c.-49+27852A>T (n.-49+27852A>T) c.1007A>T (p.Gln336Leu) | |
| 22 | g.42692945T>C | CA411810046 | A4GALT,CYB5R3 | c.-49+27852A>G (n.-49+27852A>G) c.1007A>G (p.Gln336Arg) | |
| 22 | g.42692945T>G | CA411810047 | A4GALT,CYB5R3 | c.-49+27852A>C (n.-49+27852A>C) c.1007A>C (p.Gln336Pro) | |
| 22 | g.42692946G>A | CA411810049 | A4GALT,CYB5R3 | c.-49+27851C>T (n.-49+27851C>T) c.1006C>T (p.Gln336Ter) | |
| 22 | g.42692946G>C | CA411810050 | A4GALT,CYB5R3 | c.-49+27851C>G (n.-49+27851C>G) c.1006C>G (p.Gln336Glu) |