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.38476505A>T | CA2765950694 | LIFR | c.*5090T>A (n.*5090T>A)
| |
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=)
| |
5 | g.38476516T>G | CA2673625590 | LIFR | c.*5079A>C (n.*5079A>C)
| gnomAD v4 |
5 | g.38476517G>T | CA2673625591 | LIFR | c.*5078C>A (n.*5078C>A)
| gnomAD v4 |
5 | g.38476518T>C | CA2595663411 | LIFR | c.*5077A>G (n.*5077A>G)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476520A>G | CA2673625592 | LIFR | c.*5075T>C (n.*5075T>C)
| gnomAD v4 |
5 | g.38476520A>T | CA2765950696 | LIFR | c.*5075T>A (n.*5075T>A)
| |
5 | g.38476521G>T | CA2673625593 | LIFR | c.*5074C>A (n.*5074C>A)
| gnomAD v4 |
5 | g.38476522C= | CA1540244460 | LIFR | c.*5073G= (n.*5073G=)
| |
5 | g.38476522C>T | CA1075205603 | LIFR | c.*5073G>A (n.*5073G>A)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476522_38476527delinsCTTTTT | CA1540244461 | LIFR | c.*5068_*5073delinsAAAAAG (n.*5068_*5073delinsAAAAAG)
| |
5 | g.38476523T>A | CA2673625594 | LIFR | c.*5072A>T (n.*5072A>T)
| gnomAD v4 |
5 | g.38476523T>C | CA1540244463 | LIFR | c.*5072A>G (n.*5072A>G)
| dbSNP |
5 | g.38476523T= | CA1540244462 | LIFR | c.*5072A= (n.*5072A=)
| |
5 | g.38476534dup | CA10620393 | LIFR | c.*5072dup (n.*5072dup)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.38476533_38476534dup | CA559046684 | LIFR | c.*5071_*5072dup (n.*5071_*5072dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38476532_38476534dup | CA1075205637 | LIFR | c.*5070_*5072dup (n.*5070_*5072dup)
| gnomAD v3 gnomAD v4 |
5 | g.38476531_38476534dup | CA1075205641 | LIFR | c.*5069_*5072dup (n.*5069_*5072dup)
| gnomAD v3 gnomAD v4 |
5 | g.38476530_38476534dup | CA2673625596 | LIFR | c.*5068_*5072dup (n.*5068_*5072dup)
| gnomAD v4 |
5 | g.38476534del | CA559046683 | LIFR | c.*5072del (n.*5072del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38476533_38476534del | CA1075205642 | LIFR | c.*5071_*5072del (n.*5071_*5072del)
| gnomAD v3 gnomAD v4 |
5 | g.38476532_38476534del | CA2673625595 | LIFR | c.*5070_*5072del (n.*5070_*5072del)
| gnomAD v4 |
5 | g.38476530_38476534del | CA1075205643 | LIFR | c.*5068_*5072del (n.*5068_*5072del)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476525_38476526insCTT | CA810420304 | LIFR | c.*5071_*5072insGAA (n.*5071_*5072insGAA)
| dbSNP |
5 | g.38476525_38476526insCT | CA2673625597 | LIFR | c.*5070_*5071insGA (n.*5070_*5071insGA)
| gnomAD v4 |
5 | g.38476525_38476526insC | CA1075205652 | LIFR | c.*5069_*5070insG (n.*5069_*5070insG)
| gnomAD v3 gnomAD v4 |
5 | g.38476526T>G | CA2673625598 | LIFR | c.*5069A>C (n.*5069A>C)
| gnomAD v4 |
5 | g.38476528T= | CA1540244464 | LIFR | c.*5067A= (n.*5067A=)
| |
5 | g.38476528_38476529insC | CA810420311 | LIFR | c.*5066_*5067insG (n.*5066_*5067insG)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38476534T>A | CA117130661 | LIFR | c.*5061A>T (n.*5061A>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38476534T= | CA1540244465 | LIFR | c.*5061A= (n.*5061A=)
| |
5 | g.38476534_38476535del | CA2673625599 | LIFR | c.*5060_*5061del (n.*5060_*5061del)
| gnomAD v4 |
5 | g.38476534_38476538delinsTAAAG | CA1540244466 | LIFR | c.*5057_*5061delinsCTTTA (n.*5057_*5061delinsCTTTA)
| |
5 | g.38476534_38476535insTA | CA1075205666 | LIFR | c.*5060_*5061insTA (n.*5060_*5061insTA)
| gnomAD v3 gnomAD v4 |
5 | g.38476535A= | CA1540244467 | LIFR | c.*5060T= (n.*5060T=)
| |
5 | g.38476535A>G | CA2673625600 | LIFR | c.*5060T>C (n.*5060T>C)
| gnomAD v4 |
5 | g.38476535A>T | CA117130666 | LIFR | c.*5060T>A (n.*5060T>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38476537dup | CA810420349 | LIFR | c.*5060dup (n.*5060dup)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476537del | CA1075205668 | LIFR | c.*5060del (n.*5060del)
| gnomAD v3 gnomAD v4 |
5 | g.38476536_38476537del | CA2765950713 | LIFR | c.*5059_*5060del (n.*5059_*5060del)
| |
5 | g.38476535_38476538del | CA559046685 | LIFR | c.*5057_*5060del (n.*5057_*5060del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38476535_38476536insT | CA649696589 | LIFR | c.*5059_*5060insA (n.*5059_*5060insA)
| |
5 | g.38476536A>G | CA2673625601 | LIFR | c.*5059T>C (n.*5059T>C)
| gnomAD v4 |
5 | g.38476536A>T | CA2765950714 | LIFR | c.*5059T>A (n.*5059T>A)
| |
5 | g.38476536_38476537insTTT | CA2765950715 | LIFR | c.*5058_*5059insAAA (n.*5058_*5059insAAA)
| |
5 | g.38476537A>T | CA1075205675 | LIFR | c.*5058T>A (n.*5058T>A)
| gnomAD v3 gnomAD v4 |
5 | g.38476538G>T | CA1075205676 | LIFR | c.*5057C>A (n.*5057C>A)
| gnomAD v3 gnomAD v4 |
5 | g.38476540_38476541insTTTTT | CA2765950716 | LIFR | c.*5056_*5057insAAAAA (n.*5056_*5057insAAAAA)
| |
5 | g.38476540T>G | CA1075205677 | LIFR | c.*5055A>C (n.*5055A>C)
| gnomAD v3 gnomAD v4 |
5 | g.38476541C>A | CA2673625602 | LIFR | c.*5054G>T (n.*5054G>T)
| gnomAD v4 |
5 | g.38476541C= | CA1540244468 | LIFR | c.*5054G= (n.*5054G=)
| |
5 | g.38476541C>T | CA559046686 | LIFR | c.*5054G>A (n.*5054G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38476542T>C | CA2673625603 | LIFR | c.*5053A>G (n.*5053A>G)
| gnomAD v4 |
5 | g.38476543del | CA1075205679 | LIFR | c.*5052del (n.*5052del)
| gnomAD v3 gnomAD v4 |
5 | g.38476543G>T | CA1075205680 | LIFR | c.*5052C>A (n.*5052C>A)
| gnomAD v3 gnomAD v4 |
5 | g.38476544A>G | CA2673625604 | LIFR | c.*5051T>C (n.*5051T>C)
| gnomAD v4 |
5 | g.38476544A>T | CA1075205684 | LIFR | c.*5051T>A (n.*5051T>A)
| gnomAD v3 gnomAD v4 |
5 | g.38476545T>C | CA1540244470 | LIFR | c.*5050A>G (n.*5050A>G)
| dbSNP |
5 | g.38476545T= | CA1540244469 | LIFR | c.*5050A= (n.*5050A=)
| |
5 | g.38476547G>A | CA1075205687 | LIFR | c.*5048C>T (n.*5048C>T)
| gnomAD v3 gnomAD v4 |
5 | g.38476547G>T | CA1075205689 | LIFR | c.*5048C>A (n.*5048C>A)
| gnomAD v3 gnomAD v4 |
5 | g.38476547_38476549del | CA1075205686 | LIFR | c.*5046_*5048del (n.*5046_*5048del)
| gnomAD v3 gnomAD v4 |
5 | g.38476548G>A | CA2673625605 | LIFR | c.*5047C>T (n.*5047C>T)
| gnomAD v4 |
5 | g.38476548G>T | CA1075205696 | LIFR | c.*5047C>A (n.*5047C>A)
| gnomAD v3 gnomAD v4 |
5 | g.38476549C>T | CA1075205699 | LIFR | c.*5046G>A (n.*5046G>A)
| gnomAD v3 gnomAD v4 |
5 | g.38476550_38476551insTTTTTTTTTT | CA1075205701 | LIFR | c.*5045_*5046insAAAAAAAAAA (n.*5045_*5046insAAAAAAAAAA)
| gnomAD v3 gnomAD v4 |
5 | g.38476551A= | CA1540244471 | LIFR | c.*5044T= (n.*5044T=)
| |
5 | g.38476551A>C | CA1540244472 | LIFR | c.*5044T>G (n.*5044T>G)
| dbSNP |
5 | g.38476551A>G | CA2673625606 | LIFR | c.*5044T>C (n.*5044T>C)
| gnomAD v4 |
5 | g.38476551A>T | CA1075205702 | LIFR | c.*5044T>A (n.*5044T>A)
| gnomAD v3 gnomAD v4 |
5 | g.38476552C>A | CA2673625607 | LIFR | c.*5043G>T (n.*5043G>T)
| gnomAD v4 |
5 | g.38476553T>C | CA2673625608 | LIFR | c.*5042A>G (n.*5042A>G)
| gnomAD v4 |
5 | g.38476554G>A | CA117130673 | LIFR | c.*5041C>T (n.*5041C>T)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476554G= | CA1540244473 | LIFR | c.*5041C= (n.*5041C=)
| |
5 | g.38476554G>T | CA1075205703 | LIFR | c.*5041C>A (n.*5041C>A)
| gnomAD v3 gnomAD v4 |
5 | g.38476556A= | CA1540244474 | LIFR | c.*5039T= (n.*5039T=)
| |
5 | g.38476556A>G | CA1075205705 | LIFR | c.*5039T>C (n.*5039T>C)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476558A= | CA1540244475 | LIFR | c.*5037T= (n.*5037T=)
| |
5 | g.38476558A>G | CA559046687 | LIFR | c.*5037T>C (n.*5037T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38476559G>A | CA559046688 | LIFR | c.*5036C>T (n.*5036C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38476559G= | CA1540244476 | LIFR | c.*5036C= (n.*5036C=)
| |
5 | g.38476560G>A | CA2673625609 | LIFR | c.*5035C>T (n.*5035C>T)
| gnomAD v4 |
5 | g.38476560G>C | CA2673625610 | LIFR | c.*5035C>G (n.*5035C>G)
| gnomAD v4 |
5 | g.38476560G>T | CA1075205709 | LIFR | c.*5035C>A (n.*5035C>A)
| gnomAD v3 gnomAD v4 |
5 | g.38476561C>A | CA1075205715 | LIFR | c.*5034G>T (n.*5034G>T)
| gnomAD v3 gnomAD v4 |
5 | g.38476564T>C | CA2673625611 | LIFR | c.*5031A>G (n.*5031A>G)
| gnomAD v4 |
5 | g.38476565C>A | CA1540244479 | LIFR | c.*5030G>T (n.*5030G>T)
| dbSNP gnomAD v4 |
5 | g.38476565C= | CA1540244478 | LIFR | c.*5030G= (n.*5030G=)
| |
5 | g.38476565_38476567delinsCTT | CA1540244477 | LIFR | c.*5028_*5030delinsAAG (n.*5028_*5030delinsAAG)
| |
5 | g.38476566T>G | CA117130678 | LIFR | c.*5029A>C (n.*5029A>C)
| dbSNP |
5 | g.38476566T= | CA1540244480 | LIFR | c.*5029A= (n.*5029A=)
| |
5 | g.38476566_38476567del | CA810420368 | LIFR | c.*5028_*5029del (n.*5028_*5029del)
| dbSNP |
5 | g.38476568A>G | CA2673625612 | LIFR | c.*5027T>C (n.*5027T>C)
| gnomAD v4 |
5 | g.38476572G= | CA1540244481 | LIFR | c.*5023C= (n.*5023C=)
| |
5 | g.38476572G>T | CA810420370 | LIFR | c.*5023C>A (n.*5023C>A)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476573A= | CA1540244482 | LIFR | c.*5022T= (n.*5022T=)
| |
5 | g.38476573A>G | CA117130684 | LIFR | c.*5022T>C (n.*5022T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38476574T>C | CA559046689 | LIFR | c.*5021A>G (n.*5021A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38476574T>G | CA1540244484 | LIFR | c.*5021A>C (n.*5021A>C)
| dbSNP |
5 | g.38476574T= | CA1540244483 | LIFR | c.*5021A= (n.*5021A=)
| |
5 | g.38476575G>A | CA810420397 | LIFR | c.*5020C>T (n.*5020C>T)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.38476575G= | CA1540244485 | LIFR | c.*5020C= (n.*5020C=)
| |
5 | g.38476575G>T | CA2673625613 | LIFR | c.*5020C>A (n.*5020C>A)
| gnomAD v4 |
5 | g.38476576C>T | CA2673625614 | LIFR | c.*5019G>A (n.*5019G>A)
| gnomAD v4 |
5 | g.38476578T>C | CA10621816 | LIFR | c.*5017A>G (n.*5017A>G)
| ClinVar dbSNP |
5 | g.38476578T= | CA1540244486 | LIFR | c.*5017A= (n.*5017A=)
| |
5 | g.38476579G>C | CA2673625615 | LIFR | c.*5016C>G (n.*5016C>G)
| gnomAD v4 |