Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.38476384A= | CA1540244393 | LIFR | c.*5211T= (n.*5211T=) | |
5 | g.38476384A>G | CA1075205565 | LIFR | c.*5211T>C (n.*5211T>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476386C>A | CA2673625541 | LIFR | c.*5209G>T (n.*5209G>T) | gnomAD v4 |
5 | g.38476386C= | CA1540244394 | LIFR | c.*5209G= (n.*5209G=) | |
5 | g.38476386C>T | CA1540244395 | LIFR | c.*5209G>A (n.*5209G>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476387C>A | CA1540244397 | LIFR | c.*5208G>T (n.*5208G>T) | dbSNP |
5 | g.38476387C= | CA1540244396 | LIFR | c.*5208G= (n.*5208G=) | |
5 | g.38476388A>G | CA2673625542 | LIFR | c.*5207T>C (n.*5207T>C) | gnomAD v4 |
5 | g.38476389T>C | CA810420244 | LIFR | c.*5206A>G (n.*5206A>G) | ClinVar dbSNP gnomAD v4 |
5 | g.38476389T= | CA1540244398 | LIFR | c.*5206A= (n.*5206A=) | |
5 | g.38476391del | CA2673625543 | LIFR | c.*5206del (n.*5206del) | gnomAD v4 |
5 | g.38476390T>G | CA1540244400 | LIFR | c.*5205A>C (n.*5205A>C) | dbSNP gnomAD v4 |
5 | g.38476390T= | CA1540244399 | LIFR | c.*5205A= (n.*5205A=) | |
5 | g.38476395A= | CA1540244401 | LIFR | c.*5200T= (n.*5200T=) | |
5 | g.38476395A>G | CA1540244402 | LIFR | c.*5200T>C (n.*5200T>C) | dbSNP |
5 | g.38476398G>C | CA117130578 | LIFR | c.*5197C>G (n.*5197C>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476398G= | CA1540244403 | LIFR | c.*5197C= (n.*5197C=) | |
5 | g.38476399A= | CA1540244404 | LIFR | c.*5196T= (n.*5196T=) | |
5 | g.38476399A>T | CA810420249 | LIFR | c.*5196T>A (n.*5196T>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476400A= | CA1540244405 | LIFR | c.*5195T= (n.*5195T=) | |
5 | g.38476400A>G | CA1540244406 | LIFR | c.*5195T>C (n.*5195T>C) | dbSNP gnomAD v4 |
5 | g.38476402A= | CA1540244407 | LIFR | c.*5193T= (n.*5193T=) | |
5 | g.38476402A>C | CA2673625544 | LIFR | c.*5193T>G (n.*5193T>G) | gnomAD v4 |
5 | g.38476402A>G | CA810420253 | LIFR | c.*5193T>C (n.*5193T>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476403A>G | CA2673625545 | LIFR | c.*5192T>C (n.*5192T>C) | gnomAD v4 |
5 | g.38476404T>G | CA810420271 | LIFR | c.*5191A>C (n.*5191A>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476404T= | CA1540244408 | LIFR | c.*5191A= (n.*5191A=) | |
5 | g.38476405T>A | CA2673625546 | LIFR | c.*5190A>T (n.*5190A>T) | gnomAD v4 |
5 | g.38476406C>A | CA1540244409 | LIFR | c.*5189G>T (n.*5189G>T) | dbSNP gnomAD v4 |
5 | g.38476406C= | CA1540244410 | LIFR | c.*5189G= (n.*5189G=) | |
5 | g.38476407T>C | CA1540244412 | LIFR | c.*5188A>G (n.*5188A>G) | dbSNP |
5 | g.38476407T= | CA1540244411 | LIFR | c.*5188A= (n.*5188A=) | |
5 | g.38476408T>A | CA2708991929 | LIFR | c.*5187A>T (n.*5187A>T) | dbSNP |
5 | g.38476411C>A | CA1540244414 | LIFR | c.*5184G>T (n.*5184G>T) | dbSNP gnomAD v4 |
5 | g.38476411C= | CA1540244413 | LIFR | c.*5184G= (n.*5184G=) | |
5 | g.38476411C>T | CA10624502 | LIFR | c.*5184G>A (n.*5184G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38476412G>A | CA810420275 | LIFR | c.*5183C>T (n.*5183C>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476412G= | CA1540244415 | LIFR | c.*5183C= (n.*5183C=) | |
5 | g.38476412G>T | CA2673625547 | LIFR | c.*5183C>A (n.*5183C>A) | gnomAD v4 |
5 | g.38476413G>T | CA2673625548 | LIFR | c.*5182C>A (n.*5182C>A) | gnomAD v4 |
5 | g.38476414A>G | CA2673625549 | LIFR | c.*5181T>C (n.*5181T>C) | gnomAD v4 |
5 | g.38476415A= | CA1540244416 | LIFR | c.*5180T= (n.*5180T=) | |
5 | g.38476415A>G | CA1540244417 | LIFR | c.*5180T>C (n.*5180T>C) | dbSNP |
5 | g.38476416G>A | CA2765950682 | LIFR | c.*5179C>T (n.*5179C>T) | |
5 | g.38476416_38476417insC | CA649696571 | LIFR | c.*5178_*5179insG (n.*5178_*5179insG) | COSMIC |
5 | g.38476417T= | CA1540244418 | LIFR | c.*5178A= (n.*5178A=) | |
5 | g.38476418_38476419insAAA | CA117130606 | LIFR | c.*5177_*5178insTTT (n.*5177_*5178insTTT) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476419C>A | CA559046680 | LIFR | c.*5176G>T (n.*5176G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38476419C= | CA1540244419 | LIFR | c.*5176G= (n.*5176G=) | |
5 | g.38476420A= | CA1540244420 | LIFR | c.*5175T= (n.*5175T=) | |
5 | g.38476420A>G | CA1540244421 | LIFR | c.*5175T>C (n.*5175T>C) | dbSNP |
5 | g.38476421C= | CA1540244422 | LIFR | c.*5174G= (n.*5174G=) | |
5 | g.38476421C>T | CA117130619 | LIFR | c.*5174G>A (n.*5174G>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476422T>C | CA2765950686 | LIFR | c.*5173A>G (n.*5173A>G) | |
5 | g.38476424dup | CA810420278 | LIFR | c.*5173dup (n.*5173dup) | dbSNP |
5 | g.38476426A= | CA1540244424 | LIFR | c.*5169T= (n.*5169T=) | |
5 | g.38476426A>C | CA1540244423 | LIFR | c.*5169T>G (n.*5169T>G) | dbSNP |
5 | g.38476426A>G | CA2581478392 | LIFR | c.*5169T>C (n.*5169T>C) | |
5 | g.38476426A>T | CA10624504 | LIFR | c.*5169T>A (n.*5169T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38476428T>C | CA1540244426 | LIFR | c.*5167A>G (n.*5167A>G) | dbSNP gnomAD v4 |
5 | g.38476428T= | CA1540244425 | LIFR | c.*5167A= (n.*5167A=) | |
5 | g.38476430T>C | CA2673625550 | LIFR | c.*5165A>G (n.*5165A>G) | gnomAD v4 |
5 | g.38476433A>G | CA2708991948 | LIFR | c.*5162T>C (n.*5162T>C) | dbSNP |
5 | g.38476434A>T | CA2673625551 | LIFR | c.*5161T>A (n.*5161T>A) | gnomAD v4 |
5 | g.38476435G>T | CA2673625552 | LIFR | c.*5160C>A (n.*5160C>A) | gnomAD v4 |
5 | g.38476436G>A | CA2673625553 | LIFR | c.*5159C>T (n.*5159C>T) | gnomAD v4 |
5 | g.38476438A>G | CA2673625554 | LIFR | c.*5157T>C (n.*5157T>C) | gnomAD v4 |
5 | g.38476442C>A | CA2673625555 | LIFR | c.*5153G>T (n.*5153G>T) | gnomAD v4 |
5 | g.38476442C>G | CA2765950691 | LIFR | c.*5153G>C (n.*5153G>C) | |
5 | g.38476443A>G | CA2673625556 | LIFR | c.*5152T>C (n.*5152T>C) | gnomAD v4 |
5 | g.38476444A>G | CA2673625557 | LIFR | c.*5151T>C (n.*5151T>C) | gnomAD v4 |
5 | g.38476445C>A | CA2673625559 | LIFR | c.*5150G>T (n.*5150G>T) | gnomAD v4 |
5 | g.38476445C= | CA1540244427 | LIFR | c.*5150G= (n.*5150G=) | |
5 | g.38476445C>G | CA1540244428 | LIFR | c.*5150G>C (n.*5150G>C) | dbSNP |
5 | g.38476445C>T | CA117130631 | LIFR | c.*5150G>A (n.*5150G>A) | dbSNP |
5 | g.38476446_38476447insGCA | CA2673625558 | LIFR | c.*5150_*5151insCTG (n.*5150_*5151insCTG) | gnomAD v4 |
5 | g.38476447A>G | CA2673625560 | LIFR | c.*5148T>C (n.*5148T>C) | gnomAD v4 |
5 | g.38476448C>A | CA2673625561 | LIFR | c.*5147G>T (n.*5147G>T) | gnomAD v4 |
5 | g.38476448C= | CA1540244429 | LIFR | c.*5147G= (n.*5147G=) | |
5 | g.38476448C>T | CA810420284 | LIFR | c.*5147G>A (n.*5147G>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476450T>A | CA2673625562 | LIFR | c.*5145A>T (n.*5145A>T) | gnomAD v4 |
5 | g.38476451A>T | CA2673625563 | LIFR | c.*5144T>A (n.*5144T>A) | gnomAD v4 |
5 | g.38476452A= | CA1540244430 | LIFR | c.*5143T= (n.*5143T=) | |
5 | g.38476452A>G | CA117130635 | LIFR | c.*5143T>C (n.*5143T>C) | dbSNP |
5 | g.38476485_38476486insTGTCTTAAGCTAACAACATAGATCCTATGTGTTGCCCTTAAGACTAAAATACTTTGCACACGTGAGCCATTCAATCACGTGTGCAAAGTATTTT | CA2556248051 | LIFR | c.*5142_*5143insGTGTGCAAAGTATTTTAGTCTTAAGGGCAACACATAGGATCTATGTTGTTAGCTTAAGACAAAAATACTTTGCACACGTGATTGAATGGCTCAC (n.*5142_*5143insGTGTGCAAAGTATTTTAGTCTTAAGGGCAACACATAGGATCTATGTTGTTAGCTTAAGACAAAAATACTTTGCACACGTGATTGAATGGCTCAC) | |
5 | g.38476454T>A | CA1075205578 | LIFR | c.*5141A>T (n.*5141A>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476454T>C | CA1540244431 | LIFR | c.*5141A>G (n.*5141A>G) | dbSNP |
5 | g.38476454T= | CA1540244432 | LIFR | c.*5141A= (n.*5141A=) | |
5 | g.38476455G>C | CA559046681 | LIFR | c.*5140C>G (n.*5140C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38476455G= | CA1540244433 | LIFR | c.*5140C= (n.*5140C=) | |
5 | g.38476455G>T | CA2673625564 | LIFR | c.*5140C>A (n.*5140C>A) | gnomAD v4 |
5 | g.38476458C>A | CA2673625565 | LIFR | c.*5137G>T (n.*5137G>T) | gnomAD v4 |
5 | g.38476458C= | CA1540244434 | LIFR | c.*5137G= (n.*5137G=) | |
5 | g.38476458C>G | CA1075205582 | LIFR | c.*5137G>C (n.*5137G>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476458C>T | CA2673625566 | LIFR | c.*5137G>A (n.*5137G>A) | gnomAD v4 |
5 | g.38476459C>A | CA1540244436 | LIFR | c.*5136G>T (n.*5136G>T) | dbSNP gnomAD v4 |
5 | g.38476459C= | CA1540244435 | LIFR | c.*5136G= (n.*5136G=) | |
5 | g.38476459C>T | CA2673625567 | LIFR | c.*5136G>A (n.*5136G>A) | gnomAD v4 |
5 | g.38476461T>C | CA2673625568 | LIFR | c.*5134A>G (n.*5134A>G) | gnomAD v4 |
5 | g.38476462T>C | CA2673625569 | LIFR | c.*5133A>G (n.*5133A>G) | gnomAD v4 |
5 | g.38476463C>A | CA2673625570 | LIFR | c.*5132G>T (n.*5132G>T) | gnomAD v4 |
5 | g.38476469C= | CA1540244437 | LIFR | c.*5126G= (n.*5126G=) | |
5 | g.38476469C>T | CA810420288 | LIFR | c.*5126G>A (n.*5126G>A) | dbSNP gnomAD v4 |
5 | g.38476470G>A | CA10621813 | LIFR | c.*5125C>T (n.*5125C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38476470G= | CA1540244438 | LIFR | c.*5125C= (n.*5125C=) | |
5 | g.38476472G>A | CA810420292 | LIFR | c.*5123C>T (n.*5123C>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476472G= | CA1540244439 | LIFR | c.*5123C= (n.*5123C=) | |
5 | g.38476474G>A | CA2673625571 | LIFR | c.*5121C>T (n.*5121C>T) | gnomAD v4 |
5 | g.38476475C>T | CA2673625572 | LIFR | c.*5120G>A (n.*5120G>A) | gnomAD v4 |
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) |