| 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.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) | |
| 22 | g.42692946G>T | CA411810048 | A4GALT,CYB5R3 | c.-49+27851C>A (n.-49+27851C>A) c.1006C>A (p.Gln336Lys) | |
| 22 | g.42692948del | CA2657079098 | A4GALT,CYB5R3 | c.-49+27851del (n.-49+27851del) c.1006del (p.Gln336SerfsTer14) | gnomAD v4 |
| 22 | g.42692947G>A | CA515070477 | A4GALT,CYB5R3 | c.-49+27850C>T (n.-49+27850C>T) c.1005C>T (p.Ala335=) | |
| 22 | g.42692947G>C | CA515070476 | A4GALT,CYB5R3 | c.-49+27850C>G (n.-49+27850C>G) c.1005C>G (p.Ala335=) | |
| 22 | g.42692947G>T | CA515070475 | A4GALT,CYB5R3 | c.-49+27850C>A (n.-49+27850C>A) c.1005C>A (p.Ala335=) | |
| 22 | g.42692948G>A | CA411810051 | A4GALT,CYB5R3 | c.-49+27849C>T (n.-49+27849C>T) c.1004C>T (p.Ala335Val) | gnomAD v4 |
| 22 | g.42692948G>C | CA411810052 | A4GALT,CYB5R3 | c.-49+27849C>G (n.-49+27849C>G) c.1004C>G (p.Ala335Gly) | |
| 22 | g.42692948G>T | CA411810053 | A4GALT,CYB5R3 | c.-49+27849C>A (n.-49+27849C>A) c.1004C>A (p.Ala335Asp) | gnomAD v4 COSMIC |
| 22 | g.42692949C>A | CA411810054 | A4GALT,CYB5R3 | c.-49+27848G>T (n.-49+27848G>T) c.1003G>T (p.Ala335Ser) | |
| 22 | g.42692949C>G | CA411810055 | A4GALT,CYB5R3 | c.-49+27848G>C (n.-49+27848G>C) c.1003G>C (p.Ala335Pro) | |
| 22 | g.42692949C>T | CA411810056 | A4GALT,CYB5R3 | c.-49+27848G>A (n.-49+27848G>A) c.1003G>A (p.Ala335Thr) | gnomAD v4 |
| 22 | g.42692950C>A | CA515070478 | A4GALT,CYB5R3 | c.-49+27847G>T (n.-49+27847G>T) c.1002G>T (p.Leu334=) | |
| 22 | g.42692950C= | CA2406870040 | A4GALT,CYB5R3 | c.-49+27847G= (n.-49+27847G=) c.1002G= (p.Leu334=) | |
| 22 | g.42692950C>G | CA515070480 | A4GALT,CYB5R3 | c.-49+27847G>C (n.-49+27847G>C) c.1002G>C (p.Leu334=) | gnomAD v4 |
| 22 | g.42692950C>T | CA515070479 | A4GALT,CYB5R3 | c.-49+27847G>A (n.-49+27847G>A) c.1002G>A (p.Leu334=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42692951A>C | CA411810057 | A4GALT,CYB5R3 | c.-49+27846T>G (n.-49+27846T>G) c.1001T>G (p.Leu334Arg) | |
| 22 | g.42692951A>G | CA411810058 | A4GALT,CYB5R3 | c.-49+27846T>C (n.-49+27846T>C) c.1001T>C (p.Leu334Pro) | |
| 22 | g.42692951A>T | CA411810059 | A4GALT,CYB5R3 | c.-49+27846T>A (n.-49+27846T>A) c.1001T>A (p.Leu334Gln) | |
| 22 | g.42692952G>A | CA10270163 | A4GALT,CYB5R3 | c.-49+27845C>T (n.-49+27845C>T) c.1000C>T (p.Leu334=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692952G>C | CA411810060 | A4GALT,CYB5R3 | c.-49+27845C>G (n.-49+27845C>G) c.1000C>G (p.Leu334Val) | |
| 22 | g.42692952G= | CA2406870041 | A4GALT,CYB5R3 | c.-49+27845C= (n.-49+27845C=) c.1000C= (p.Leu334=) | |
| 22 | g.42692952G>T | CA411810061 | A4GALT,CYB5R3 | c.-49+27845C>A (n.-49+27845C>A) c.1000C>A (p.Leu334Met) | gnomAD v4 |
| 22 | g.42692953C>A | CA515070481 | A4GALT,CYB5R3 | c.-49+27844G>T (n.-49+27844G>T) c.999G>T (p.Leu333=) | |
| 22 | g.42692953C>G | CA515070482 | A4GALT,CYB5R3 | c.-49+27844G>C (n.-49+27844G>C) c.999G>C (p.Leu333=) | |
| 22 | g.42692953C>T | CA515070483 | A4GALT,CYB5R3 | c.-49+27844G>A (n.-49+27844G>A) c.999G>A (p.Leu333=) | gnomAD v4 |
| 22 | g.42692954A= | CA2406870043 | A4GALT,CYB5R3 | c.-49+27843T= (n.-49+27843T=) c.998T= (p.Leu333=) |