| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.38481501_38481503del | CA2578294070 | LIFR | c.*92_*94del (n.*92_*94del) | gnomAD v4 |
| 5 | g.38481502A>T | CA2578294071 | LIFR | c.*93T>A (n.*93T>A) | |
| 5 | g.38481503C= | CA1540248643 | LIFR | c.*92G= (n.*92G=) | |
| 5 | g.38481503C>T | CA559296026 | LIFR | c.*92G>A (n.*92G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38481504A>G | CA2578294072 | LIFR | c.*91T>C (n.*91T>C) | gnomAD v4 |
| 5 | g.38481505G>A | CA2673627506 | LIFR | c.*90C>T (n.*90C>T) | gnomAD v4 |
| 5 | g.38481505G>T | CA2578294073 | LIFR | c.*90C>A (n.*90C>A) | |
| 5 | g.38481506G>A | CA1540248646 | LIFR | c.*89C>T (n.*89C>T) | dbSNP gnomAD v4 |
| 5 | g.38481506G= | CA1540248645 | LIFR | c.*89C= (n.*89C=) | |
| 5 | g.38481506G>T | CA2673627507 | LIFR | c.*89C>A (n.*89C>A) | gnomAD v4 |
| 5 | g.38481507A>T | CA2673627508 | LIFR | c.*88T>A (n.*88T>A) | gnomAD v4 |
| 5 | g.38481509C>A | CA2673627509 | LIFR | c.*86G>T (n.*86G>T) | gnomAD v4 |
| 5 | g.38481509C= | CA1540248648 | LIFR | c.*86G= (n.*86G=) | |
| 5 | g.38481509C>T | CA1540248649 | LIFR | c.*86G>A (n.*86G>A) | dbSNP gnomAD v4 |
| 5 | g.38481510C>A | CA2673627510 | LIFR | c.*85G>T (n.*85G>T) | gnomAD v4 |
| 5 | g.38481511C= | CA1540248650 | LIFR | c.*84G= (n.*84G=) | |
| 5 | g.38481511C>T | CA559296027 | LIFR | c.*84G>A (n.*84G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38481513C= | CA1540248652 | LIFR | c.*82G= (n.*82G=) | |
| 5 | g.38481513C>T | CA117133798 | LIFR | c.*82G>A (n.*82G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38481514C>A | CA2673627511 | LIFR | c.*81G>T (n.*81G>T) | gnomAD v4 |
| 5 | g.38481515A>G | CA2673627512 | LIFR | c.*80T>C (n.*80T>C) | gnomAD v4 |
| 5 | g.38481516A>C | CA2673627513 | LIFR | c.*79T>G (n.*79T>G) | gnomAD v4 |
| 5 | g.38481517G>T | CA2673627514 | LIFR | c.*78C>A (n.*78C>A) | gnomAD v4 |
| 5 | g.38481519A= | CA1540248654 | LIFR | c.*76T= (n.*76T=) | |
| 5 | g.38481519A>T | CA1540248655 | LIFR | c.*76T>A (n.*76T>A) | dbSNP gnomAD v4 |
| 5 | g.38481521G>C | CA2578294074 | LIFR | c.*74C>G (n.*74C>G) | |
| 5 | g.38481521G>T | CA2673627515 | LIFR | c.*74C>A (n.*74C>A) | gnomAD v4 |
| 5 | g.38481522C>T | CA2578294075 | LIFR | c.*73G>A (n.*73G>A) | gnomAD v4 |
| 5 | g.38481524del | CA2578294076 | LIFR | c.*73del (n.*73del) | |
| 5 | g.38481523C>T | CA2578294077 | LIFR | c.*72G>A (n.*72G>A) | gnomAD v4 |
| 5 | g.38481524C>A | CA810423066 | LIFR | c.*71G>T (n.*71G>T) | dbSNP |
| 5 | g.38481524C= | CA1540248657 | LIFR | c.*71G= (n.*71G=) | |
| 5 | g.38481524_38481525del | CA2673627516 | LIFR | c.*70_*71del (n.*70_*71del) | gnomAD v4 |
| 5 | g.38481525A= | CA1540248660 | LIFR | c.*70T= (n.*70T=) | |
| 5 | g.38481525A>G | CA117133804 | LIFR | c.*70T>C (n.*70T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38481525A>T | CA2578294078 | LIFR | c.*70T>A (n.*70T>A) | |
| 5 | g.38481528G>C | CA2673627517 | LIFR | c.*67C>G (n.*67C>G) | gnomAD v4 |
| 5 | g.38481528G>T | CA2578294079 | LIFR | c.*67C>A (n.*67C>A) | gnomAD v4 |
| 5 | g.38481529C>T | CA2673627518 | LIFR | c.*66G>A (n.*66G>A) | gnomAD v4 |
| 5 | g.38481531G>T | CA2673627519 | LIFR | c.*64C>A (n.*64C>A) | gnomAD v4 |
| 5 | g.38481533T>A | CA1540248663 | LIFR | c.*62A>T (n.*62A>T) | dbSNP |
| 5 | g.38481533T>C | CA2673627520 | LIFR | c.*62A>G (n.*62A>G) | gnomAD v4 |
| 5 | g.38481533T>G | CA1540248664 | LIFR | c.*62A>C (n.*62A>C) | dbSNP |
| 5 | g.38481533T= | CA1540248662 | LIFR | c.*62A= (n.*62A=) | |
| 5 | g.38481534G>A | CA2673627521 | LIFR | c.*61C>T (n.*61C>T) | gnomAD v4 |
| 5 | g.38481534G>T | CA2673627522 | LIFR | c.*61C>A (n.*61C>A) | gnomAD v4 |
| 5 | g.38481535T>C | CA559296028 | LIFR | c.*60A>G (n.*60A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38481535T>G | CA1540248667 | LIFR | c.*60A>C (n.*60A>C) | dbSNP |
| 5 | g.38481535T= | CA1540248666 | LIFR | c.*60A= (n.*60A=) | |
| 5 | g.38481537G>C | CA117133808 | LIFR | c.*58C>G (n.*58C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38481537G= | CA1540248669 | LIFR | c.*58C= (n.*58C=) | |
| 5 | g.38481537G>T | CA810423069 | LIFR | c.*58C>A (n.*58C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38481538del | CA2578294080 | LIFR | c.*57del (n.*57del) | |
| 5 | g.38481538C>T | CA2511935147 | LIFR | c.*57G>A (n.*57G>A) | |
| 5 | g.38481540A>T | CA2673627523 | LIFR | c.*55T>A (n.*55T>A) | gnomAD v4 |
| 5 | g.38481542A= | CA1540248672 | LIFR | c.*53T= (n.*53T=) | |
| 5 | g.38481542A>G | CA1075207679 | LIFR | c.*53T>C (n.*53T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38481543_38481549delinsCTAGCAG | CA1540248673 | LIFR | c.*46_*52delinsCTGCTAG (n.*46_*52delinsCTGCTAG) | |
| 5 | g.38481544T>C | CA2673627524 | LIFR | c.*51A>G (n.*51A>G) | gnomAD v4 |
| 5 | g.38481546_38481551del | CA559296029 | LIFR | c.*46_*51del (n.*46_*51del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38481546G>A | CA1540248677 | LIFR | c.*49C>T (n.*49C>T) | dbSNP |
| 5 | g.38481546G= | CA1540248675 | LIFR | c.*49C= (n.*49C=) | |
| 5 | g.38481546G>T | CA2673627525 | LIFR | c.*49C>A (n.*49C>A) | gnomAD v4 |
| 5 | g.38481547del | CA2578294081 | LIFR | c.*48del (n.*48del) | |
| 5 | g.38481547C= | CA1540248679 | LIFR | c.*48G= (n.*48G=) | |
| 5 | g.38481547C>T | CA117133812 | LIFR | c.*48G>A (n.*48G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38481549G>A | CA3242464 | LIFR | c.*46C>T (n.*46C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38481549G>C | CA2673627526 | LIFR | c.*46C>G (n.*46C>G) | gnomAD v4 |
| 5 | g.38481549G= | CA1540248683 | LIFR | c.*46C= (n.*46C=) | |
| 5 | g.38481549G>T | CA2673627527 | LIFR | c.*46C>A (n.*46C>A) | gnomAD v4 |
| 5 | g.38481551A>C | CA2673627528 | LIFR | c.*44T>G (n.*44T>G) | gnomAD v4 |
| 5 | g.38481552A>C | CA2578294082 | LIFR | c.*43T>G (n.*43T>G) | gnomAD v4 |
| 5 | g.38481553G>C | CA3242465 | LIFR | c.*42C>G (n.*42C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38481553G= | CA1540248685 | LIFR | c.*42C= (n.*42C=) | |
| 5 | g.38481554A>G | CA2673627530 | LIFR | c.*41T>C (n.*41T>C) | gnomAD v4 |
| 5 | g.38481554A>T | CA2673627531 | LIFR | c.*41T>A (n.*41T>A) | gnomAD v4 |
| 5 | g.38481554_38481557del | CA2673627529 | LIFR | c.*38_*41del (n.*38_*41del) | gnomAD v4 |
| 5 | g.38481555G>T | CA2673627532 | LIFR | c.*40C>A (n.*40C>A) | gnomAD v4 |
| 5 | g.38481557T>G | CA1540248688 | LIFR | c.*38A>C (n.*38A>C) | dbSNP |
| 5 | g.38481557T= | CA1540248687 | LIFR | c.*38A= (n.*38A=) | |
| 5 | g.38481559_38481561del | CA2673627533 | LIFR | c.*36_*38del (n.*36_*38del) | gnomAD v4 |
| 5 | g.38481560T>C | CA559296030 | LIFR | c.*35A>G (n.*35A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38481560T= | CA1540248690 | LIFR | c.*35A= (n.*35A=) | |
| 5 | g.38481561T>G | CA2673627534 | LIFR | c.*34A>C (n.*34A>C) | gnomAD v4 |
| 5 | g.38481564G= | CA1540248691 | LIFR | c.*31C= (n.*31C=) | |
| 5 | g.38481565dup | CA559296031 | LIFR | c.*30dup (n.*30dup) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38481566T>C | CA2673627535 | LIFR | c.*29A>G (n.*29A>G) | gnomAD v4 |
| 5 | g.38481569C= | CA1540248693 | LIFR | c.*26G= (n.*26G=) | |
| 5 | g.38481569C>T | CA1075207685 | LIFR | c.*26G>A (n.*26G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38481573_38481576del | CA2673627536 | LIFR | c.*23_*26del (n.*23_*26del) | gnomAD v4 |
| 5 | g.38481571G>C | CA117133857 | LIFR | c.*24C>G (n.*24C>G) | dbSNP gnomAD v4 |
| 5 | g.38481571G= | CA1540248697 | LIFR | c.*24C= (n.*24C=) | |
| 5 | g.38481571G>T | CA2673627537 | LIFR | c.*24C>A (n.*24C>A) | gnomAD v4 |
| 5 | g.38481572A= | CA1540248700 | LIFR | c.*23T= (n.*23T=) | |
| 5 | g.38481572A>G | CA2673627538 | LIFR | c.*23T>C (n.*23T>C) | gnomAD v4 |
| 5 | g.38481572A>T | CA810423076 | LIFR | c.*23T>A (n.*23T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38481573del | CA2578294084 | LIFR | c.*22del (n.*22del) | gnomAD v4 |
| 5 | g.38481573C>A | CA2673627539 | LIFR | c.*22G>T (n.*22G>T) | gnomAD v4 |
| 5 | g.38481573C= | CA1540248703 | LIFR | c.*22G= (n.*22G=) | |
| 5 | g.38481573C>T | CA3242466 | LIFR | c.*22G>A (n.*22G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38481575G>C | CA2578294085 | LIFR | c.*20C>G (n.*20C>G) | gnomAD v4 |
| 5 | g.38481577A>G | CA2673627540 | LIFR | c.*18T>C (n.*18T>C) | gnomAD v4 |
| 5 | g.38481577A>T | CA2673627541 | LIFR | c.*18T>A (n.*18T>A) | gnomAD v4 |
| 5 | g.38481578G>A | CA1540248707 | LIFR | c.*17C>T (n.*17C>T) | dbSNP |
| 5 | g.38481578G= | CA1540248706 | LIFR | c.*17C= (n.*17C=) | |
| 5 | g.38481580G= | CA1540248709 | LIFR | c.*15C= (n.*15C=) | |
| 5 | g.38481580G>T | CA810423080 | LIFR | c.*15C>A (n.*15C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38481582C= | CA1540248711 | LIFR | c.*13G= (n.*13G=) | |
| 5 | g.38481582C>T | CA117133863 | LIFR | c.*13G>A (n.*13G>A) | dbSNP gnomAD v4 |
| 5 | g.38481584C= | CA1540248713 | LIFR | c.*11G= (n.*11G=) | |
| 5 | g.38481584C>G | CA559296041 | LIFR | c.*11G>C (n.*11G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38481584C>T | CA117133883 | LIFR | c.*11G>A (n.*11G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38481585G>A | CA3242467 | LIFR | c.*10C>T (n.*10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38481585G= | CA1540248718 | LIFR | c.*10C= (n.*10C=) | |
| 5 | g.38481586G>A | CA1540248722 | LIFR | c.*9C>T (n.*9C>T) | dbSNP gnomAD v4 |
| 5 | g.38481586G>C | CA1075207692 | LIFR | c.*9C>G (n.*9C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38481586G= | CA1540248724 | LIFR | c.*9C= (n.*9C=) | |
| 5 | g.38481586G>T | CA1139658813 | LIFR | c.*9C>A (n.*9C>A) | ClinVar dbSNP |
| 5 | g.38481588G>A | CA559296042 | LIFR | c.*7C>T (n.*7C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38481588G= | CA1540248726 | LIFR | c.*7C= (n.*7C=) | |
| 5 | g.38481590C>G | CA2578294088 | LIFR | c.*5G>C (n.*5G>C) | |
| 5 | g.38481590C>T | CA2578294089 | LIFR | c.*5G>A (n.*5G>A) | |
| 5 | g.38481591A= | CA1540248728 | LIFR | c.*4T= (n.*4T=) | |
| 5 | g.38481591A>C | CA3242468 | LIFR | c.*4T>G (n.*4T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38481592C>A | CA2673627542 | LIFR | c.*3G>T (n.*3G>T) | gnomAD v4 |
| 5 | g.38481592C= | CA1540248730 | LIFR | c.*3G= (n.*3G=) | |
| 5 | g.38481592C>G | CA559296043 | LIFR | c.*3G>C (n.*3G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38481592C>T | CA2578294090 | LIFR | c.*3G>A (n.*3G>A) | gnomAD v4 |
| 5 | g.38481593T>A | CA1540248733 | LIFR | c.*2A>T (n.*2A>T) | dbSNP |
| 5 | g.38481593T>C | CA2542758019 | LIFR | c.*2A>G (n.*2A>G) | |
| 5 | g.38481593T= | CA1540248732 | LIFR | c.*2A= (n.*2A=) | |
| 5 | g.38481594G>A | CA3242469 | LIFR | c.*1C>T (n.*1C>T) | dbSNP ExAC gnomAD v2 |
| 5 | g.38481594G= | CA1540248735 | LIFR | c.*1C= (n.*1C=) | |
| 5 | g.38481595T>A | CA359533001 | LIFR | c.3294A>T (p.Ter1098Tyr) c.3261A>T (p.Ter1087Tyr) c.3348A>T (p.Ter1116Tyr) | |
| 5 | g.38481595T>C | CA444098719 | LIFR | c.3294A>G (p.Ter1098=) c.3261A>G (p.Ter1087=) c.3348A>G (p.Ter1116=) | |
| 5 | g.38481595T>G | CA359533003 | LIFR | c.3294A>C (p.Ter1098Tyr) c.3261A>C (p.Ter1087Tyr) c.3348A>C (p.Ter1116Tyr) | |
| 5 | g.38481596T>A | CA359533005 | LIFR | c.3293A>T (p.Ter1098Leu) c.3260A>T (p.Ter1087Leu) c.3347A>T (p.Ter1116Leu) | gnomAD v4 |
| 5 | g.38481596T>C | CA444098722 | LIFR | c.3293A>G (p.Ter1098=) c.3260A>G (p.Ter1087=) c.3347A>G (p.Ter1116=) | |
| 5 | g.38481596T>G | CA359533007 | LIFR | c.3293A>C (p.Ter1098Ser) c.3260A>C (p.Ter1087Ser) c.3347A>C (p.Ter1116Ser) | |
| 5 | g.38481597A>C | CA359533008 | LIFR | c.3292T>G (p.Ter1098Glu) c.3259T>G (p.Ter1087Glu) c.3346T>G (p.Ter1116Glu) | |
| 5 | g.38481597A>G | CA359533009 | LIFR | c.3292T>C (p.Ter1098Gln) c.3259T>C (p.Ter1087Gln) c.3346T>C (p.Ter1116Gln) | gnomAD v4 |
| 5 | g.38481597A>T | CA359533013 | LIFR | c.3292T>A (p.Ter1098Lys) c.3259T>A (p.Ter1087Lys) c.3346T>A (p.Ter1116Lys) | |
| 5 | g.38481598dup | CA2673627543 | LIFR | c.3292dup (p.Ter1098LeuextTer14) c.3259dup (p.Ter1087LeuextTer14) c.3346dup (p.Ter1116LeuextTer14) | gnomAD v4 |
| 5 | g.38481598A= | CA1540248739 | LIFR | c.3291T= (p.Asp1097=) c.3258T= (p.Asp1086=) c.3345T= (p.Asp1115=) | |
| 5 | g.38481598A>C | CA359533014 | LIFR | c.3291T>G (p.Asp1097Glu) c.3258T>G (p.Asp1086Glu) c.3345T>G (p.Asp1115Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38481598A>G | CA444098724 | LIFR | c.3291T>C (p.Asp1097=) c.3258T>C (p.Asp1086=) c.3345T>C (p.Asp1115=) | |
| 5 | g.38481598A>T | CA359533016 | LIFR | c.3291T>A (p.Asp1097Glu) c.3258T>A (p.Asp1086Glu) c.3345T>A (p.Asp1115Glu) | |
| 5 | g.38481599T>A | CA117133899 | LIFR | c.3290A>T (p.Asp1097Val) c.3257A>T (p.Asp1086Val) c.3344A>T (p.Asp1115Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.38481599T>C | CA359533018 | LIFR | c.3290A>G (p.Asp1097Gly) c.3257A>G (p.Asp1086Gly) c.3344A>G (p.Asp1115Gly) | |
| 5 | g.38481599T>G | CA359533020 | LIFR | c.3290A>C (p.Asp1097Ala) c.3257A>C (p.Asp1086Ala) c.3344A>C (p.Asp1115Ala) | |
| 5 | g.38481599T= | CA1540248743 | LIFR | c.3290A= (p.Asp1097=) c.3257A= (p.Asp1086=) c.3344A= (p.Asp1115=) | |
| 5 | g.38481600C>A | CA359533028 | LIFR | c.3289G>T (p.Asp1097Tyr) c.3256G>T (p.Asp1086Tyr) c.3343G>T (p.Asp1115Tyr) | |
| 5 | g.38481600C= | CA1540248747 | LIFR | c.3289G= (p.Asp1097=) c.3256G= (p.Asp1086=) c.3343G= (p.Asp1115=) | |
| 5 | g.38481600C>G | CA359533029 | LIFR | c.3289G>C (p.Asp1097His) c.3256G>C (p.Asp1086His) c.3343G>C (p.Asp1115His) | |
| 5 | g.38481600C>T | CA3242470 | LIFR | c.3289G>A (p.Asp1097Asn) c.3256G>A (p.Asp1086Asn) c.3343G>A (p.Asp1115Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.38481600_38481605delinsCGTTTG | CA1540248748 | LIFR | c.3284_3289delinsCAAACG (p.Pro1095=) c.3251_3256delinsCAAACG (p.Pro1084=) c.3338_3343delinsCAAACG (p.Pro1113=) | |
| 5 | g.38481601G>A | CA201780 | LIFR | c.3288C>T (p.Asn1096=) c.3255C>T (p.Asn1085=) c.3342C>T (p.Asn1114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38481601G>C | CA359533031 | LIFR | c.3288C>G (p.Asn1096Lys) c.3255C>G (p.Asn1085Lys) c.3342C>G (p.Asn1114Lys) | |
| 5 | g.38481601G= | CA1540248761 | LIFR | c.3288C= (p.Asn1096=) c.3255C= (p.Asn1085=) c.3342C= (p.Asn1114=) | |
| 5 | g.38481601G>T | CA3242471 | LIFR | c.3288C>A (p.Asn1096Lys) c.3255C>A (p.Asn1085Lys) c.3342C>A (p.Asn1114Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38481606_38481610del | CA117133906 | LIFR | c.3284_3288del (p.Pro1095ArgfsTer15) c.3251_3255del (p.Pro1084ArgfsTer15) c.3338_3342del (p.Pro1113ArgfsTer15) | dbSNP gnomAD v4 |