| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.38476485_38476486insTGTCTTAAGCTAACAACATAGATCCTATGTGTTGCCCTTAAGACTAAAATACTTTGCACACGTGAGCCATTCAATCACGTGTGCAAAGTATTTT | CA2556248051 | LIFR | c.*5142_*5143insGTGTGCAAAGTATTTTAGTCTTAAGGGCAACACATAGGATCTATGTTGTTAGCTTAAGACAAAAATACTTTGCACACGTGATTGAATGGCTCAC (n.*5142_*5143insGTGTGCAAAGTATTTTAGTCTTAAGGGCAACACATAGGATCTATGTTGTTAGCTTAAGACAAAAATACTTTGCACACGTGATTGAATGGCTCAC) | |
| 5 | g.38476479G>A | CA810420293 | LIFR | c.*5116C>T (n.*5116C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38476479G= | CA1540244440 | LIFR | c.*5116C= (n.*5116C=) | |
| 5 | g.38476479G>T | CA2673625573 | LIFR | c.*5116C>A (n.*5116C>A) | gnomAD v4 |
| 5 | g.38476480T>C | CA1075205595 | LIFR | c.*5115A>G (n.*5115A>G) | dbSNP gnomAD v4 |
| 5 | g.38476480T= | CA1540244441 | LIFR | c.*5115A= (n.*5115A=) | |
| 5 | g.38476483_38476489delinsTTTAGTC | CA1540244442 | LIFR | c.*5106_*5112delinsGACTAAA (n.*5106_*5112delinsGACTAAA) | |
| 5 | g.38476487_38476492del | CA1540244443 | LIFR | c.*5106_*5111del (n.*5106_*5111del) | dbSNP |
| 5 | g.38476487G>T | CA2673625574 | LIFR | c.*5108C>A (n.*5108C>A) | gnomAD v4 |
| 5 | g.38476488T>C | CA117130638 | LIFR | c.*5107A>G (n.*5107A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38476488T= | CA1540244444 | LIFR | c.*5107A= (n.*5107A=) | |
| 5 | g.38476489C>A | CA1540244447 | LIFR | c.*5106G>T (n.*5106G>T) | dbSNP |
| 5 | g.38476489C= | CA1540244448 | LIFR | c.*5106G= (n.*5106G=) | |
| 5 | g.38476489C>G | CA1540244446 | LIFR | c.*5106G>C (n.*5106G>C) | dbSNP |
| 5 | g.38476489C>T | CA1540244445 | LIFR | c.*5106G>A (n.*5106G>A) | dbSNP |
| 5 | g.38476490T>C | CA2673625575 | LIFR | c.*5105A>G (n.*5105A>G) | gnomAD v4 |
| 5 | g.38476491T>A | CA810420294 | LIFR | c.*5104A>T (n.*5104A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38476491T>C | CA1075205597 | LIFR | c.*5104A>G (n.*5104A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38476491T= | CA1540244449 | LIFR | c.*5104A= (n.*5104A=) | |
| 5 | g.38476492A>G | CA2673625576 | LIFR | c.*5103T>C (n.*5103T>C) | gnomAD v4 |
| 5 | g.38476494G>T | CA2673625577 | LIFR | c.*5101C>A (n.*5101C>A) | gnomAD v4 |
| 5 | g.38476495G>A | CA810420295 | LIFR | c.*5100C>T (n.*5100C>T) | dbSNP |
| 5 | g.38476495G= | CA1540244450 | LIFR | c.*5100C= (n.*5100C=) | |
| 5 | g.38476496G>T | CA2673625578 | LIFR | c.*5099C>A (n.*5099C>A) | gnomAD v4 |
| 5 | g.38476497C>A | CA1075205598 | LIFR | c.*5098G>T (n.*5098G>T) | gnomAD v3 gnomAD v4 |
| 5 | g.38476497C>T | CA2673625579 | LIFR | c.*5098G>A (n.*5098G>A) | gnomAD v4 |
| 5 | g.38476499A>G | CA2673625580 | LIFR | c.*5096T>C (n.*5096T>C) | gnomAD v4 |
| 5 | g.38476502C>A | CA2673625581 | LIFR | c.*5093G>T (n.*5093G>T) | gnomAD v4 |
| 5 | g.38476502C= | CA1540244451 | LIFR | c.*5093G= (n.*5093G=) | |
| 5 | g.38476502C>T | CA559046682 | LIFR | c.*5093G>A (n.*5093G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38476503A>G | CA2509827855 | LIFR | c.*5092T>C (n.*5092T>C) | |
| 5 | g.38476504T>C | CA810420296 | LIFR | c.*5091A>G (n.*5091A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38476504T= | CA1540244452 | LIFR | c.*5091A= (n.*5091A=) | |
| 5 | g.38476505A>G | CA2673625582 | LIFR | c.*5090T>C (n.*5090T>C) | gnomAD v4 |
| 5 | g.38476507G>T | CA2673625583 | LIFR | c.*5088C>A (n.*5088C>A) | gnomAD v4 |
| 5 | g.38476509T>C | CA810420297 | LIFR | c.*5086A>G (n.*5086A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38476509T= | CA1540244453 | LIFR | c.*5086A= (n.*5086A=) | |
| 5 | g.38476510C>A | CA2673625584 | LIFR | c.*5085G>T (n.*5085G>T) | gnomAD v4 |
| 5 | g.38476510C= | CA1540244454 | LIFR | c.*5085G= (n.*5085G=) | |
| 5 | g.38476510C>G | CA1540244455 | LIFR | c.*5085G>C (n.*5085G>C) | dbSNP |
| 5 | g.38476510C>T | CA117130643 | LIFR | c.*5085G>A (n.*5085G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38476511T>A | CA2673625585 | LIFR | c.*5084A>T (n.*5084A>T) | gnomAD v4 |
| 5 | g.38476511T>C | CA2673625586 | LIFR | c.*5084A>G (n.*5084A>G) | gnomAD v4 |
| 5 | g.38476512A>C | CA2673625587 | LIFR | c.*5083T>G (n.*5083T>G) | gnomAD v4 |
| 5 | g.38476512A>T | CA2673625588 | LIFR | c.*5083T>A (n.*5083T>A) | gnomAD v4 |
| 5 | g.38476513T>C | CA1540244457 | LIFR | c.*5082A>G (n.*5082A>G) | dbSNP |
| 5 | g.38476513T= | CA1540244456 | LIFR | c.*5082A= (n.*5082A=) | |
| 5 | g.38476514G>T | CA2673625589 | LIFR | c.*5081C>A (n.*5081C>A) | gnomAD v4 |
| 5 | g.38476515T>C | CA1540244459 | LIFR | c.*5080A>G (n.*5080A>G) | dbSNP |
| 5 | g.38476515T= | CA1540244458 | LIFR | c.*5080A= (n.*5080A=) |