| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693069A= | CA2406870102 | A4GALT,CYB5R3 | c.-49+27728T= (n.-49+27728T=) c.883T= (p.Tyr295=) | |
| 22 | g.42693069A>C | CA411810426 | A4GALT,CYB5R3 | c.-49+27728T>G (n.-49+27728T>G) c.883T>G (p.Tyr295Asp) | |
| 22 | g.42693069A>G | CA411810427 | A4GALT,CYB5R3 | c.-49+27728T>C (n.-49+27728T>C) c.883T>C (p.Tyr295His) | gnomAD v4 |
| 22 | g.42693069A>T | CA324732142 | A4GALT,CYB5R3 | c.-49+27728T>A (n.-49+27728T>A) c.883T>A (p.Tyr295Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693070C>A | CA411810428 | A4GALT,CYB5R3 | c.-49+27727G>T (n.-49+27727G>T) c.882G>T (p.Lys294Asn) | |
| 22 | g.42693070C>G | CA411810429 | A4GALT,CYB5R3 | c.-49+27727G>C (n.-49+27727G>C) c.882G>C (p.Lys294Asn) | |
| 22 | g.42693070C>T | CA515071768 | A4GALT,CYB5R3 | c.-49+27727G>A (n.-49+27727G>A) c.882G>A (p.Lys294=) | gnomAD v4 |
| 22 | g.42693071T>A | CA411810430 | A4GALT,CYB5R3 | c.-49+27726A>T (n.-49+27726A>T) c.881A>T (p.Lys294Met) | |
| 22 | g.42693071T>C | CA324732145 | A4GALT,CYB5R3 | c.-49+27726A>G (n.-49+27726A>G) c.881A>G (p.Lys294Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693071T>G | CA411810431 | A4GALT,CYB5R3 | c.-49+27726A>C (n.-49+27726A>C) c.881A>C (p.Lys294Thr) | |
| 22 | g.42693071T= | CA2406870103 | A4GALT,CYB5R3 | c.-49+27726A= (n.-49+27726A=) c.881A= (p.Lys294=) | |
| 22 | g.42693072T>A | CA411810432 | A4GALT,CYB5R3 | c.-49+27725A>T (n.-49+27725A>T) c.880A>T (p.Lys294Ter) | |
| 22 | g.42693072T>C | CA411810433 | A4GALT,CYB5R3 | c.-49+27725A>G (n.-49+27725A>G) c.880A>G (p.Lys294Glu) | |
| 22 | g.42693072T>G | CA411810434 | A4GALT,CYB5R3 | c.-49+27725A>C (n.-49+27725A>C) c.880A>C (p.Lys294Gln) | |
| 22 | g.42693073C>A | CA411810436 | A4GALT,CYB5R3 | c.-49+27724G>T (n.-49+27724G>T) c.879G>T (p.Lys293Asn) | gnomAD v4 |
| 22 | g.42693073C>G | CA411810435 | A4GALT,CYB5R3 | c.-49+27724G>C (n.-49+27724G>C) c.879G>C (p.Lys293Asn) | |
| 22 | g.42693073C>T | CA515071783 | A4GALT,CYB5R3 | c.-49+27724G>A (n.-49+27724G>A) c.879G>A (p.Lys293=) | |
| 22 | g.42693074T>A | CA411810437 | A4GALT,CYB5R3 | c.-49+27723A>T (n.-49+27723A>T) c.878A>T (p.Lys293Met) | |
| 22 | g.42693074T>C | CA411810438 | A4GALT,CYB5R3 | c.-49+27723A>G (n.-49+27723A>G) c.878A>G (p.Lys293Arg) | dbSNP |
| 22 | g.42693074T>G | CA411810439 | A4GALT,CYB5R3 | c.-49+27723A>C (n.-49+27723A>C) c.878A>C (p.Lys293Thr) | |
| 22 | g.42693075T>A | CA411810440 | A4GALT,CYB5R3 | c.-49+27722A>T (n.-49+27722A>T) c.877A>T (p.Lys293Ter) | |
| 22 | g.42693075T>C | CA411810441 | A4GALT,CYB5R3 | c.-49+27722A>G (n.-49+27722A>G) c.877A>G (p.Lys293Glu) | |
| 22 | g.42693075T>G | CA411810442 | A4GALT,CYB5R3 | c.-49+27722A>C (n.-49+27722A>C) c.877A>C (p.Lys293Gln) | |
| 22 | g.42693076C>A | CA411810443 | A4GALT,CYB5R3 | c.-49+27721G>T (n.-49+27721G>T) c.876G>T (p.Trp292Cys) | |
| 22 | g.42693076C>G | CA411810444 | A4GALT,CYB5R3 | c.-49+27721G>C (n.-49+27721G>C) c.876G>C (p.Trp292Cys) | |
| 22 | g.42693076C>T | CA411810445 | A4GALT,CYB5R3 | c.-49+27721G>A (n.-49+27721G>A) c.876G>A (p.Trp292Ter) | COSMIC |
| 22 | g.42693077C>A | CA411810446 | A4GALT,CYB5R3 | c.-49+27720G>T (n.-49+27720G>T) c.875G>T (p.Trp292Leu) | |
| 22 | g.42693077C>G | CA411810447 | A4GALT,CYB5R3 | c.-49+27720G>C (n.-49+27720G>C) c.875G>C (p.Trp292Ser) | |
| 22 | g.42693077C>T | CA411810448 | A4GALT,CYB5R3 | c.-49+27720G>A (n.-49+27720G>A) c.875G>A (p.Trp292Ter) | gnomAD v4 |
| 22 | g.42693078A>C | CA411810450 | A4GALT,CYB5R3 | c.-49+27719T>G (n.-49+27719T>G) c.874T>G (p.Trp292Gly) | |
| 22 | g.42693078A>G | CA411810451 | A4GALT,CYB5R3 | c.-49+27719T>C (n.-49+27719T>C) c.874T>C (p.Trp292Arg) | |
| 22 | g.42693078A>T | CA411810449 | A4GALT,CYB5R3 | c.-49+27719T>A (n.-49+27719T>A) c.874T>A (p.Trp292Arg) | |
| 22 | g.42693079G>A | CA515071807 | A4GALT,CYB5R3 | c.-49+27718C>T (n.-49+27718C>T) c.873C>T (p.Asp291=) | gnomAD v4 |
| 22 | g.42693079G>C | CA411810452 | A4GALT,CYB5R3 | c.-49+27718C>G (n.-49+27718C>G) c.873C>G (p.Asp291Glu) | gnomAD v4 |
| 22 | g.42693079G>T | CA411810453 | A4GALT,CYB5R3 | c.-49+27718C>A (n.-49+27718C>A) c.873C>A (p.Asp291Glu) | gnomAD v4 |
| 22 | g.42693080T>A | CA411810454 | A4GALT,CYB5R3 | c.-49+27717A>T (n.-49+27717A>T) c.872A>T (p.Asp291Val) | |
| 22 | g.42693080T>C | CA411810455 | A4GALT,CYB5R3 | c.-49+27717A>G (n.-49+27717A>G) c.872A>G (p.Asp291Gly) | |
| 22 | g.42693080T>G | CA411810456 | A4GALT,CYB5R3 | c.-49+27717A>C (n.-49+27717A>C) c.872A>C (p.Asp291Ala) | |
| 22 | g.42693081C>A | CA10270194 | A4GALT,CYB5R3 | c.-49+27716G>T (n.-49+27716G>T) c.871G>T (p.Asp291Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693081C= | CA2406870104 | A4GALT,CYB5R3 | c.-49+27716G= (n.-49+27716G=) c.871G= (p.Asp291=) | |
| 22 | g.42693081C>G | CA411810457 | A4GALT,CYB5R3 | c.-49+27716G>C (n.-49+27716G>C) c.871G>C (p.Asp291His) | |
| 22 | g.42693081C>T | CA411810458 | A4GALT,CYB5R3 | c.-49+27716G>A (n.-49+27716G>A) c.871G>A (p.Asp291Asn) | gnomAD v4 |
| 22 | g.42693082C>A | CA411810459 | A4GALT,CYB5R3 | c.-49+27715G>T (n.-49+27715G>T) c.870G>T (p.Gln290His) | |
| 22 | g.42693082C>G | CA411810460 | A4GALT,CYB5R3 | c.-49+27715G>C (n.-49+27715G>C) c.870G>C (p.Gln290His) | |
| 22 | g.42693082C>T | CA515071827 | A4GALT,CYB5R3 | c.-49+27715G>A (n.-49+27715G>A) c.870G>A (p.Gln290=) | |
| 22 | g.42693083T>A | CA411810461 | A4GALT,CYB5R3 | c.-49+27714A>T (n.-49+27714A>T) c.869A>T (p.Gln290Leu) | |
| 22 | g.42693083T>C | CA411810462 | A4GALT,CYB5R3 | c.-49+27714A>G (n.-49+27714A>G) c.869A>G (p.Gln290Arg) | gnomAD v4 |
| 22 | g.42693083T>G | CA411810463 | A4GALT,CYB5R3 | c.-49+27714A>C (n.-49+27714A>C) c.869A>C (p.Gln290Pro) | |
| 22 | g.42693084G>A | CA411810466 | A4GALT,CYB5R3 | c.-49+27713C>T (n.-49+27713C>T) c.868C>T (p.Gln290Ter) | |
| 22 | g.42693084G>C | CA411810465 | A4GALT,CYB5R3 | c.-49+27713C>G (n.-49+27713C>G) c.868C>G (p.Gln290Glu) |