UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.38485813A= | CA1540254063 | LIFR | c.2497+6T= (n.2497+6T=) n.336T= c.2551+6T= (n.2551+6T=) | |
| 5 | g.38485813A>T | CA3242652 | LIFR | c.2497+6T>A (n.2497+6T>A) n.336T>A c.2551+6T>A (n.2551+6T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38485817A>C | CA359535873 | LIFR | c.2497+2T>G (n.2497+2T>G) n.332T>G c.2551+2T>G (n.2551+2T>G) | |
| 5 | g.38485817A>G | CA359535874 | LIFR | c.2497+2T>C (n.2497+2T>C) n.332T>C c.2551+2T>C (n.2551+2T>C) | |
| 5 | g.38485817A>T | CA359535875 | LIFR | c.2497+2T>A (n.2497+2T>A) n.332T>A c.2551+2T>A (n.2551+2T>A) | |
| 5 | g.38485818C>A | CA3242653 | LIFR | c.2497+1G>T (n.2497+1G>T) n.331G>T c.2551+1G>T (n.2551+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38485818C= | CA1540254064 | LIFR | c.2497+1G= (n.2497+1G=) n.331G= c.2551+1G= (n.2551+1G=) | |
| 5 | g.38485818C>G | CA359535877 | LIFR | c.2497+1G>C (n.2497+1G>C) n.331G>C c.2551+1G>C (n.2551+1G>C) | |
| 5 | g.38485818C>T | CA359535876 | LIFR | c.2497+1G>A (n.2497+1G>A) n.331G>A c.2551+1G>A (n.2551+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38485819A= | CA1540254068 | LIFR | c.2497T= (p.Ser833=) n.330T= c.2497T= (p.Leu833=) c.2551T= (p.Ser851=) | |
| 5 | g.38485819A>C | CA359535878 | LIFR | c.2497T>G (p.Ser833Ala) n.330T>G c.2497T>G (p.Leu833Val) c.2551T>G (p.Ser851Ala) | |
| 5 | g.38485819A>G | CA359535879 | LIFR | c.2497T>C (p.Ser833Pro) n.330T>C c.2497T>C (p.Leu833=) c.2551T>C (p.Ser851Pro) | |
| 5 | g.38485819A>T | CA359535880 | LIFR | c.2497T>A (p.Ser833Thr) n.330T>A c.2497T>A (p.Leu833Met) c.2551T>A (p.Ser851Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38485820A>C | CA359535881 | LIFR | c.2496T>G (p.Asn832Lys) n.329T>G c.2550T>G (p.Asn850Lys) | |
| 5 | g.38485820A>G | CA443943747 | LIFR | c.2496T>C (p.Asn832=) n.329T>C c.2550T>C (p.Asn850=) | |
| 5 | g.38485820A>T | CA359535882 | LIFR | c.2496T>A (p.Asn832Lys) n.329T>A c.2550T>A (p.Asn850Lys) | |
| 5 | g.38485821T>A | CA359535883 | LIFR | c.2495A>T (p.Asn832Ile) n.328A>T c.2549A>T (p.Asn850Ile) | |
| 5 | g.38485821T>C | CA359535884 | LIFR | c.2495A>G (p.Asn832Ser) n.328A>G c.2549A>G (p.Asn850Ser) | gnomAD v4 |
| 5 | g.38485821T>G | CA359535885 | LIFR | c.2495A>C (p.Asn832Thr) n.328A>C c.2549A>C (p.Asn850Thr) | |
| 5 | g.38485824dup | CA2673628180 | LIFR | c.2495dup (p.Asn832LysfsTer?) n.328dup c.2495dup (p.Asn832LysfsTer24) c.2549dup (p.Asn850LysfsTer?) | gnomAD v4 |
| 5 | g.38485821_38485822insC | CA2550295104 | LIFR | c.2494_2495insG (p.Asn832ArgfsTer?) n.327_328insG c.2494_2495insG (p.Asn832ArgfsTer24) c.2548_2549insG (p.Asn850ArgfsTer?) | |
| 5 | g.38485822T>A | CA359535886 | LIFR | c.2494A>T (p.Asn832Tyr) n.327A>T c.2548A>T (p.Asn850Tyr) | |
| 5 | g.38485822T>C | CA359535887 | LIFR | c.2494A>G (p.Asn832Asp) n.327A>G c.2548A>G (p.Asn850Asp) | |
| 5 | g.38485822T>G | CA359535888 | LIFR | c.2494A>C (p.Asn832His) n.327A>C c.2548A>C (p.Asn850His) | |
| 5 | g.38485823T>A | CA359535889 | LIFR | c.2493A>T (p.Glu831Asp) n.326A>T c.2547A>T (p.Glu849Asp) | |
| 5 | g.38485823T>C | CA443943753 | LIFR | c.2493A>G (p.Glu831=) n.326A>G c.2547A>G (p.Glu849=) | |
| 5 | g.38485823T>G | CA359535890 | LIFR | c.2493A>C (p.Glu831Asp) n.326A>C c.2547A>C (p.Glu849Asp) | |
| 5 | g.38485824T>A | CA359535892 | LIFR | c.2492A>T (p.Glu831Val) n.325A>T c.2546A>T (p.Glu849Val) | |
| 5 | g.38485824T>C | CA3242654 | LIFR | c.2492A>G (p.Glu831Gly) n.325A>G c.2546A>G (p.Glu849Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38485824T>G | CA359535891 | LIFR | c.2492A>C (p.Glu831Ala) n.325A>C c.2546A>C (p.Glu849Ala) | |
| 5 | g.38485824T= | CA1540254071 | LIFR | c.2492A= (p.Glu831=) n.325A= c.2546A= (p.Glu849=) | |
| 5 | g.38485825C>A | CA359535895 | LIFR | c.2491G>T (p.Glu831Ter) n.324G>T c.2545G>T (p.Glu849Ter) | |
| 5 | g.38485825C>G | CA359535893 | LIFR | c.2491G>C (p.Glu831Gln) n.324G>C c.2545G>C (p.Glu849Gln) | |
| 5 | g.38485825C>T | CA359535894 | LIFR | c.2491G>A (p.Glu831Lys) n.324G>A c.2545G>A (p.Glu849Lys) | COSMIC COSMIC |
| 5 | g.38485826C>A | CA359535896 | LIFR | c.2490G>T (p.Lys830Asn) n.323G>T c.2544G>T (p.Lys848Asn) | |
| 5 | g.38485826C>G | CA359535897 | LIFR | c.2490G>C (p.Lys830Asn) n.323G>C c.2544G>C (p.Lys848Asn) | |
| 5 | g.38485826C>T | CA443943756 | LIFR | c.2490G>A (p.Lys830=) n.323G>A c.2544G>A (p.Lys848=) | |
| 5 | g.38485827T>A | CA359535898 | LIFR | c.2489A>T (p.Lys830Met) n.322A>T c.2543A>T (p.Lys848Met) | |
| 5 | g.38485827T>C | CA359535900 | LIFR | c.2489A>G (p.Lys830Arg) n.322A>G c.2543A>G (p.Lys848Arg) | |
| 5 | g.38485827T>G | CA359535901 | LIFR | c.2489A>C (p.Lys830Thr) n.322A>C c.2543A>C (p.Lys848Thr) | |
| 5 | g.38485828T>A | CA359535903 | LIFR | c.2488A>T (p.Lys830Ter) n.321A>T c.2542A>T (p.Lys848Ter) | |
| 5 | g.38485828T>C | CA359535905 | LIFR | c.2488A>G (p.Lys830Glu) n.321A>G c.2542A>G (p.Lys848Glu) | |
| 5 | g.38485828T>G | CA359535906 | LIFR | c.2488A>C (p.Lys830Gln) n.321A>C c.2542A>C (p.Lys848Gln) | |
| 5 | g.38485829T>A | CA443943761 | LIFR | c.2487A>T (p.Thr829=) n.320A>T c.2541A>T (p.Thr847=) | |
| 5 | g.38485829T>C | CA443943762 | LIFR | c.2487A>G (p.Thr829=) n.320A>G c.2541A>G (p.Thr847=) | ClinVar |
| 5 | g.38485829T>G | CA443943764 | LIFR | c.2487A>C (p.Thr829=) n.320A>C c.2541A>C (p.Thr847=) | |
| 5 | g.38485830G>A | CA359535907 | LIFR | c.2486C>T (p.Thr829Ile) n.319C>T c.2540C>T (p.Thr847Ile) | |
| 5 | g.38485830G>C | CA359535909 | LIFR | c.2486C>G (p.Thr829Arg) n.319C>G c.2540C>G (p.Thr847Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38485830G= | CA1540254074 | LIFR | c.2486C= (p.Thr829=) n.319C= c.2540C= (p.Thr847=) | |
| 5 | g.38485830G>T | CA359535911 | LIFR | c.2486C>A (p.Thr829Lys) n.319C>A c.2540C>A (p.Thr847Lys) | |
| 5 | g.38485831T>A | CA359535915 | LIFR | c.2485A>T (p.Thr829Ser) n.318A>T c.2539A>T (p.Thr847Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38485831T>C | CA359535913 | LIFR | c.2485A>G (p.Thr829Ala) n.318A>G c.2539A>G (p.Thr847Ala) | |
| 5 | g.38485831T>G | CA359535914 | LIFR | c.2485A>C (p.Thr829Pro) n.318A>C c.2539A>C (p.Thr847Pro) | |
| 5 | g.38485831T= | CA1540254078 | LIFR | c.2485A= (p.Thr829=) n.318A= c.2539A= (p.Thr847=) | |
| 5 | g.38485832C>A | CA443943768 | LIFR | c.2484G>T (p.Val828=) n.317G>T c.2538G>T (p.Val846=) | |
| 5 | g.38485832C>G | CA443943769 | LIFR | c.2484G>C (p.Val828=) n.317G>C c.2538G>C (p.Val846=) | |
| 5 | g.38485832C>T | CA443943770 | LIFR | c.2484G>A (p.Val828=) n.317G>A c.2538G>A (p.Val846=) | ClinVar dbSNP |
| 5 | g.38485833A>C | CA359535917 | LIFR | c.2483T>G (p.Val828Gly) n.316T>G c.2537T>G (p.Val846Gly) | |
| 5 | g.38485833A>G | CA359535918 | LIFR | c.2483T>C (p.Val828Ala) n.316T>C c.2537T>C (p.Val846Ala) | |
| 5 | g.38485833A>T | CA359535920 | LIFR | c.2483T>A (p.Val828Glu) n.316T>A c.2537T>A (p.Val846Glu) | |
| 5 | g.38485834C>A | CA359535921 | LIFR | c.2482G>T (p.Val828Leu) n.315G>T c.2536G>T (p.Val846Leu) | |
| 5 | g.38485834C>G | CA359535923 | LIFR | c.2482G>C (p.Val828Leu) n.315G>C c.2536G>C (p.Val846Leu) | |
| 5 | g.38485834C>T | CA359535924 | LIFR | c.2482G>A (p.Val828Met) n.315G>A c.2536G>A (p.Val846Met) | |
| 5 | g.38485835C>A | CA443943773 | LIFR | c.2481G>T (p.Val827=) n.314G>T c.2535G>T (p.Val845=) | COSMIC COSMIC |
| 5 | g.38485835C>G | CA443943774 | LIFR | c.2481G>C (p.Val827=) n.314G>C c.2535G>C (p.Val845=) | |
| 5 | g.38485835C>T | CA443943772 | LIFR | c.2481G>A (p.Val827=) n.314G>A c.2535G>A (p.Val845=) | gnomAD v4 |
| 5 | g.38485836A= | CA1540254088 | LIFR | c.2480T= (p.Val827=) n.313T= c.2534T= (p.Val845=) | |
| 5 | g.38485836A>C | CA359535926 | LIFR | c.2480T>G (p.Val827Gly) n.313T>G c.2534T>G (p.Val845Gly) | |
| 5 | g.38485836A>G | CA3242655 | LIFR | c.2480T>C (p.Val827Ala) n.313T>C c.2534T>C (p.Val845Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38485836A>T | CA359535928 | LIFR | c.2480T>A (p.Val827Glu) n.313T>A c.2534T>A (p.Val845Glu) | |
| 5 | g.38485837C>A | CA359535930 | LIFR | c.2479G>T (p.Val827Leu) n.312G>T c.2533G>T (p.Val845Leu) | |
| 5 | g.38485837C= | CA1540254100 | LIFR | c.2479G= (p.Val827=) n.312G= c.2533G= (p.Val845=) | |
| 5 | g.38485837C>G | CA359535932 | LIFR | c.2479G>C (p.Val827Leu) n.312G>C c.2533G>C (p.Val845Leu) | |
| 5 | g.38485837C>T | CA359535934 | LIFR | c.2479G>A (p.Val827Met) n.312G>A c.2533G>A (p.Val845Met) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38485838A>C | CA359535935 | LIFR | c.2478T>G (p.Tyr826Ter) n.311T>G c.2532T>G (p.Tyr844Ter) | |
| 5 | g.38485838A>G | CA443943779 | LIFR | c.2478T>C (p.Tyr826=) n.311T>C c.2532T>C (p.Tyr844=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.38485838A>T | CA359535936 | LIFR | c.2478T>A (p.Tyr826Ter) n.311T>A c.2532T>A (p.Tyr844Ter) | |
| 5 | g.38485839T>A | CA359535938 | LIFR | c.2477A>T (p.Tyr826Phe) n.310A>T c.2531A>T (p.Tyr844Phe) | gnomAD v4 COSMIC COSMIC |
| 5 | g.38485839T>C | CA359535940 | LIFR | c.2477A>G (p.Tyr826Cys) n.310A>G c.2531A>G (p.Tyr844Cys) | |
| 5 | g.38485839T>G | CA359535941 | LIFR | c.2477A>C (p.Tyr826Ser) n.310A>C c.2531A>C (p.Tyr844Ser) | |
| 5 | g.38485840A>C | CA359535943 | LIFR | c.2476T>G (p.Tyr826Asp) n.309T>G c.2530T>G (p.Tyr844Asp) | |
| 5 | g.38485840A>G | CA359535944 | LIFR | c.2476T>C (p.Tyr826His) n.309T>C c.2530T>C (p.Tyr844His) | |
| 5 | g.38485840A>T | CA359535945 | LIFR | c.2476T>A (p.Tyr826Asn) n.309T>A c.2530T>A (p.Tyr844Asn) | |
| 5 | g.38485840_38485844del | CA1139532333 | LIFR | c.2472_2476del (p.Ser824ArgfsTer?) n.305_309del c.2472_2476del (p.Ser824ArgfsTer30) c.2526_2530del (p.Ser842ArgfsTer?) | ClinVar |
| 5 | g.38485841C>A | CA359535946 | LIFR | c.2475G>T (p.Met825Ile) n.308G>T c.2529G>T (p.Met843Ile) | |
| 5 | g.38485841C>G | CA359535948 | LIFR | c.2475G>C (p.Met825Ile) n.308G>C c.2529G>C (p.Met843Ile) | |
| 5 | g.38485841C>T | CA359535949 | LIFR | c.2475G>A (p.Met825Ile) n.308G>A c.2529G>A (p.Met843Ile) | |
| 5 | g.38485841_38485843delinsCAT | CA1540254107 | LIFR | c.2473_2475delinsATG (p.Met825=) n.306_308delinsATG c.2527_2529delinsATG (p.Met843=) | |
| 5 | g.38485842A>C | CA359535951 | LIFR | c.2474T>G (p.Met825Arg) n.307T>G c.2528T>G (p.Met843Arg) | |
| 5 | g.38485842A>G | CA359535953 | LIFR | c.2474T>C (p.Met825Thr) n.307T>C c.2528T>C (p.Met843Thr) | gnomAD v4 |
| 5 | g.38485842A>T | CA359535954 | LIFR | c.2474T>A (p.Met825Lys) n.307T>A c.2528T>A (p.Met843Lys) | |
| 5 | g.38485843_38485844del | CA559046998 | LIFR | c.2473_2474del (p.Met825ValfsTer?) n.306_307del c.2473_2474del (p.Met825ValfsTer30) c.2527_2528del (p.Met843ValfsTer?) | dbSNP gnomAD v2 |
| 5 | g.38485843T>A | CA359535957 | LIFR | c.2473A>T (p.Met825Leu) n.306A>T c.2527A>T (p.Met843Leu) | |
| 5 | g.38485843T>C | CA3242656 | LIFR | c.2473A>G (p.Met825Val) n.306A>G c.2527A>G (p.Met843Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38485843T>G | CA359535955 | LIFR | c.2473A>C (p.Met825Leu) n.306A>C c.2527A>C (p.Met843Leu) | |
| 5 | g.38485843T= | CA1540254124 | LIFR | c.2473A= (p.Met825=) n.306A= c.2527A= (p.Met843=) | |
| 5 | g.38485844A= | CA1540254128 | LIFR | c.2472T= (p.Ser824=) n.305T= c.2526T= (p.Ser842=) | |
| 5 | g.38485844A>C | CA117143051 | LIFR | c.2472T>G (p.Ser824Arg) n.305T>G c.2526T>G (p.Ser842Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38485844A>G | CA443943789 | LIFR | c.2472T>C (p.Ser824=) n.305T>C c.2526T>C (p.Ser842=) | |
| 5 | g.38485844A>T | CA359535960 | LIFR | c.2472T>A (p.Ser824Arg) n.305T>A c.2526T>A (p.Ser842Arg) | |
| 5 | g.38485845C>A | CA359535961 | LIFR | c.2471G>T (p.Ser824Ile) n.304G>T c.2525G>T (p.Ser842Ile) | |
| 5 | g.38485845C>G | CA359535963 | LIFR | c.2471G>C (p.Ser824Thr) n.304G>C c.2525G>C (p.Ser842Thr) | |
| 5 | g.38485845C>T | CA359535965 | LIFR | c.2471G>A (p.Ser824Asn) n.304G>A c.2525G>A (p.Ser842Asn) | |
| 5 | g.38485846T>A | CA359535969 | LIFR | c.2470A>T (p.Ser824Cys) n.303A>T c.2524A>T (p.Ser842Cys) | |
| 5 | g.38485846T>C | CA359535966 | LIFR | c.2470A>G (p.Ser824Gly) n.303A>G c.2524A>G (p.Ser842Gly) | gnomAD v4 |
| 5 | g.38485846T>G | CA359535968 | LIFR | c.2470A>C (p.Ser824Arg) n.303A>C c.2524A>C (p.Ser842Arg) | |
| 5 | g.38485847C>A | CA359535970 | LIFR | c.2469G>T (p.Lys823Asn) n.302G>T c.2523G>T (p.Lys841Asn) | gnomAD v4 |
| 5 | g.38485847C= | CA1540254135 | LIFR | c.2469G= (p.Lys823=) n.302G= c.2523G= (p.Lys841=) | |
| 5 | g.38485847C>G | CA359535972 | LIFR | c.2469G>C (p.Lys823Asn) n.302G>C c.2523G>C (p.Lys841Asn) | |
| 5 | g.38485847C>T | CA117143054 | LIFR | c.2469G>A (p.Lys823=) n.302G>A c.2523G>A (p.Lys841=) | dbSNP |
| 5 | g.38485848T>A | CA359535974 | LIFR | c.2468A>T (p.Lys823Met) n.301A>T c.2522A>T (p.Lys841Met) | |
| 5 | g.38485848T>C | CA359535975 | LIFR | c.2468A>G (p.Lys823Arg) n.301A>G c.2522A>G (p.Lys841Arg) | |
| 5 | g.38485848T>G | CA359535976 | LIFR | c.2468A>C (p.Lys823Thr) n.301A>C c.2522A>C (p.Lys841Thr) | |
| 5 | g.38485849T>A | CA359535979 | LIFR | c.2467A>T (p.Lys823Ter) n.300A>T c.2521A>T (p.Lys841Ter) | |
| 5 | g.38485849T>C | CA359535981 | LIFR | c.2467A>G (p.Lys823Glu) n.300A>G c.2521A>G (p.Lys841Glu) | |
| 5 | g.38485849T>G | CA359535977 | LIFR | c.2467A>C (p.Lys823Gln) n.300A>C c.2521A>C (p.Lys841Gln) | |
| 5 | g.38485850C>A | CA3242657 | LIFR | c.2466G>T (p.Glu822Asp) n.299G>T c.2520G>T (p.Glu840Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.38485850C= | CA1540254142 | LIFR | c.2466G= (p.Glu822=) n.299G= c.2520G= (p.Glu840=) | |
| 5 | g.38485850C>G | CA359535983 | LIFR | c.2466G>C (p.Glu822Asp) n.299G>C c.2520G>C (p.Glu840Asp) | |
| 5 | g.38485850C>T | CA443943799 | LIFR | c.2466G>A (p.Glu822=) n.299G>A c.2520G>A (p.Glu840=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.38485851T>A | CA359535989 | LIFR | c.2465A>T (p.Glu822Val) n.298A>T c.2519A>T (p.Glu840Val) | |
| 5 | g.38485851T>C | CA359535986 | LIFR | c.2465A>G (p.Glu822Gly) n.298A>G c.2519A>G (p.Glu840Gly) | COSMIC |
| 5 | g.38485851T>G | CA359535987 | LIFR | c.2465A>C (p.Glu822Ala) n.298A>C c.2519A>C (p.Glu840Ala) | |
| 5 | g.38485852C>A | CA3242658 | LIFR | c.2464G>T (p.Glu822Ter) n.297G>T c.2518G>T (p.Glu840Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38485852C= | CA1540254147 | LIFR | c.2464G= (p.Glu822=) n.297G= c.2518G= (p.Glu840=) | |
| 5 | g.38485852C>G | CA359535990 | LIFR | c.2464G>C (p.Glu822Gln) n.297G>C c.2518G>C (p.Glu840Gln) | |
| 5 | g.38485852C>T | CA359535992 | LIFR | c.2464G>A (p.Glu822Lys) n.297G>A c.2518G>A (p.Glu840Lys) | |
| 5 | g.38485853del | CA2697547145 | LIFR | c.2464del (p.Glu822ArgfsTer7) n.297del c.2518del (p.Glu840ArgfsTer7) | ClinVar |
| 5 | g.38485853C>A | CA443943803 | LIFR | c.2463G>T (p.Pro821=) n.296G>T c.2517G>T (p.Pro839=) | |
| 5 | g.38485853C= | CA1540254151 | LIFR | c.2463G= (p.Pro821=) n.296G= c.2517G= (p.Pro839=) | |
| 5 | g.38485853C>G | CA443943804 | LIFR | c.2463G>C (p.Pro821=) n.296G>C c.2517G>C (p.Pro839=) | |
| 5 | g.38485853C>T | CA3242659 | LIFR | c.2463G>A (p.Pro821=) n.296G>A c.2517G>A (p.Pro839=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38485854G>A | CA359535994 | LIFR | c.2462C>T (p.Pro821Leu) n.295C>T c.2516C>T (p.Pro839Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.38485854G>C | CA3242660 | LIFR | c.2462C>G (p.Pro821Arg) n.295C>G c.2516C>G (p.Pro839Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38485854G= | CA1540254160 | LIFR | c.2462C= (p.Pro821=) n.295C= c.2516C= (p.Pro839=) | |
| 5 | g.38485854G>T | CA359535996 | LIFR | c.2462C>A (p.Pro821Gln) n.295C>A c.2516C>A (p.Pro839Gln) | |
| 5 | g.38485855G>A | CA359535998 | LIFR | c.2461C>T (p.Pro821Ser) n.294C>T c.2515C>T (p.Pro839Ser) | gnomAD v4 |
| 5 | g.38485855G>C | CA359535999 | LIFR | c.2461C>G (p.Pro821Ala) n.294C>G c.2515C>G (p.Pro839Ala) | |
| 5 | g.38485855G>T | CA359536001 | LIFR | c.2461C>A (p.Pro821Thr) n.294C>A c.2515C>A (p.Pro839Thr) | |
| 5 | g.38485856G>A | CA443943809 | LIFR | c.2460C>T (p.Gly820=) n.293C>T c.2514C>T (p.Gly838=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38485856G>C | CA443943808 | LIFR | c.2460C>G (p.Gly820=) n.293C>G c.2514C>G (p.Gly838=) | |
| 5 | g.38485856G= | CA1540254165 | LIFR | c.2460C= (p.Gly820=) n.293C= c.2514C= (p.Gly838=) | |
| 5 | g.38485856G>T | CA443943807 | LIFR | c.2460C>A (p.Gly820=) n.293C>A c.2514C>A (p.Gly838=) | |
| 5 | g.38485857C>A | CA359536006 | LIFR | c.2459G>T (p.Gly820Val) n.292G>T c.2513G>T (p.Gly838Val) | |
| 5 | g.38485857C>G | CA359536004 | LIFR | c.2459G>C (p.Gly820Ala) n.292G>C c.2513G>C (p.Gly838Ala) | |
| 5 | g.38485857C>T | CA359536002 | LIFR | c.2459G>A (p.Gly820Asp) n.292G>A c.2513G>A (p.Gly838Asp) | |
| 5 | g.38485858C>A | CA359536007 | LIFR | c.2458G>T (p.Gly820Cys) n.291G>T c.2512G>T (p.Gly838Cys) | |
| 5 | g.38485858C>G | CA359536009 | LIFR | c.2458G>C (p.Gly820Arg) n.291G>C c.2512G>C (p.Gly838Arg) | |
| 5 | g.38485858C>T | CA359536012 | LIFR | c.2458G>A (p.Gly820Ser) n.291G>A c.2512G>A (p.Gly838Ser) | |
| 5 | g.38485859C>A | CA443943811 | LIFR | c.2457G>T (p.Val819=) n.290G>T c.2511G>T (p.Val837=) | |
| 5 | g.38485859C= | CA1540254169 | LIFR | c.2457G= (p.Val819=) n.290G= c.2511G= (p.Val837=) | |
| 5 | g.38485859C>G | CA443943812 | LIFR | c.2457G>C (p.Val819=) n.290G>C c.2511G>C (p.Val837=) | dbSNP |
| 5 | g.38485859C>T | CA443943814 | LIFR | c.2457G>A (p.Val819=) n.290G>A c.2511G>A (p.Val837=) | |
| 5 | g.38485860A= | CA1540254172 | LIFR | c.2456T= (p.Val819=) n.289T= c.2510T= (p.Val837=) | |
| 5 | g.38485860A>C | CA359536014 | LIFR | c.2456T>G (p.Val819Gly) n.289T>G c.2510T>G (p.Val837Gly) | |
| 5 | g.38485860A>G | CA359536015 | LIFR | c.2456T>C (p.Val819Ala) n.289T>C c.2510T>C (p.Val837Ala) | dbSNP |
| 5 | g.38485860A>T | CA359536017 | LIFR | c.2456T>A (p.Val819Glu) n.289T>A c.2510T>A (p.Val837Glu) | |
| 5 | g.38485861C>A | CA359536019 | LIFR | c.2455G>T (p.Val819Leu) n.288G>T c.2509G>T (p.Val837Leu) | |
| 5 | g.38485861C= | CA1540254182 | LIFR | c.2455G= (p.Val819=) n.288G= c.2509G= (p.Val837=) | |
| 5 | g.38485861C>G | CA359536020 | LIFR | c.2455G>C (p.Val819Leu) n.288G>C c.2509G>C (p.Val837Leu) | |
| 5 | g.38485861C>T | CA3242661 | LIFR | c.2455G>A (p.Val819Met) n.288G>A c.2509G>A (p.Val837Met) | dbSNP ExAC gnomAD v4 |
| 5 | g.38485862T>A | CA443943815 | LIFR | c.2454A>T (p.Gly818=) n.287A>T c.2508A>T (p.Gly836=) | |
| 5 | g.38485862T>C | CA443943816 | LIFR | c.2454A>G (p.Gly818=) n.287A>G c.2508A>G (p.Gly836=) | |
| 5 | g.38485862T>G | CA443943817 | LIFR | c.2454A>C (p.Gly818=) n.287A>C c.2508A>C (p.Gly836=) | |
| 5 | g.38485863C>A | CA359536024 | LIFR | c.2453G>T (p.Gly818Val) n.286G>T c.2507G>T (p.Gly836Val) | |
| 5 | g.38485863C>G | CA359536025 | LIFR | c.2453G>C (p.Gly818Ala) n.286G>C c.2507G>C (p.Gly836Ala) | |
| 5 | g.38485863C>T | CA359536026 | LIFR | c.2453G>A (p.Gly818Glu) n.286G>A c.2507G>A (p.Gly836Glu) | gnomAD v4 COSMIC COSMIC |
| 5 | g.38485864C>A | CA359536032 | LIFR | c.2452G>T (p.Gly818Ter) n.285G>T c.2506G>T (p.Gly836Ter) | |
| 5 | g.38485864C>G | CA359536030 | LIFR | c.2452G>C (p.Gly818Arg) n.285G>C c.2506G>C (p.Gly836Arg) | |
| 5 | g.38485864C>T | CA359536029 | LIFR | c.2452G>A (p.Gly818Arg) n.285G>A c.2506G>A (p.Gly836Arg) | |
| 5 | g.38485865A= | CA1540254191 | LIFR | c.2451T= (p.Gly817=) n.284T= c.2505T= (p.Gly835=) | |
| 5 | g.38485865A>C | CA443943818 | LIFR | c.2451T>G (p.Gly817=) n.284T>G c.2505T>G (p.Gly835=) | |
| 5 | g.38485865A>G | CA3242662 | LIFR | c.2451T>C (p.Gly817=) n.284T>C c.2505T>C (p.Gly835=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38485865A>T | CA443943819 | LIFR | c.2451T>A (p.Gly817=) n.284T>A c.2505T>A (p.Gly835=) | |
| 5 | g.38485866C>A | CA359536035 | LIFR | c.2450G>T (p.Gly817Val) n.283G>T c.2504G>T (p.Gly835Val) | gnomAD v4 |
| 5 | g.38485866C>G | CA359536036 | LIFR | c.2450G>C (p.Gly817Ala) n.283G>C c.2504G>C (p.Gly835Ala) | |
| 5 | g.38485866C>T | CA359536037 | LIFR | c.2450G>A (p.Gly817Asp) n.283G>A c.2504G>A (p.Gly835Asp) | COSMIC COSMIC |
| 5 | g.38485867C>A | CA359536039 | LIFR | c.2449G>T (p.Gly817Cys) n.282G>T c.2503G>T (p.Gly835Cys) | |
| 5 | g.38485867C= | CA1540254195 | LIFR | c.2449G= (p.Gly817=) n.282G= c.2503G= (p.Gly835=) | |
| 5 | g.38485867C>G | CA359536041 | LIFR | c.2449G>C (p.Gly817Arg) n.282G>C c.2503G>C (p.Gly835Arg) | |
| 5 | g.38485867C>T | CA359536042 | LIFR | c.2449G>A (p.Gly817Ser) n.282G>A c.2503G>A (p.Gly835Ser) | dbSNP gnomAD v2 |
| 5 | g.38485868A= | CA1540254199 | LIFR | c.2448T= (p.Asp816=) n.281T= c.2502T= (p.Asp834=) | |
| 5 | g.38485868A>C | CA359536044 | LIFR | c.2448T>G (p.Asp816Glu) n.281T>G c.2502T>G (p.Asp834Glu) | |
| 5 | g.38485868A>G | CA117143059 | LIFR | c.2448T>C (p.Asp816=) n.281T>C c.2502T>C (p.Asp834=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38485868A>T | CA359536045 | LIFR | c.2448T>A (p.Asp816Glu) n.281T>A c.2502T>A (p.Asp834Glu) | |
| 5 | g.38485869T>A | CA359536046 | LIFR | c.2447A>T (p.Asp816Val) n.280A>T c.2501A>T (p.Asp834Val) | dbSNP gnomAD v4 |
| 5 | g.38485869T>C | CA3242663 | LIFR | c.2447A>G (p.Asp816Gly) n.280A>G c.2501A>G (p.Asp834Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38485869T>G | CA359536049 | LIFR | c.2447A>C (p.Asp816Ala) n.280A>C c.2501A>C (p.Asp834Ala) | |
| 5 | g.38485869T= | CA1540254208 | LIFR | c.2447A= (p.Asp816=) n.280A= c.2501A= (p.Asp834=) | |
| 5 | g.38485870del | CA2673628181 | LIFR | c.2446del (p.Asp816MetfsTer13) n.279del c.2500del (p.Asp834MetfsTer13) | gnomAD v4 |
| 5 | g.38485870C>A | CA359536052 | LIFR | c.2446G>T (p.Asp816Tyr) n.279G>T c.2500G>T (p.Asp834Tyr) | |
| 5 | g.38485870C= | CA1540254249 | LIFR | c.2446G= (p.Asp816=) n.279G= c.2500G= (p.Asp834=) | |
| 5 | g.38485870C>G | CA359536050 | LIFR | c.2446G>C (p.Asp816His) n.279G>C c.2500G>C (p.Asp834His) | |
| 5 | g.38485870C>T | CA359536051 | LIFR | c.2446G>A (p.Asp816Asn) n.279G>A c.2500G>A (p.Asp834Asn) | dbSNP gnomAD v4 |
| 5 | g.38485871T>A | CA443943820 | LIFR | c.2445A>T (p.Thr815=) n.278A>T c.2499A>T (p.Thr833=) | |
| 5 | g.38485871T>C | CA3242664 | LIFR | c.2445A>G (p.Thr815=) n.278A>G c.2499A>G (p.Thr833=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38485871T>G | CA443943821 | LIFR | c.2445A>C (p.Thr815=) n.278A>C c.2499A>C (p.Thr833=) | |
| 5 | g.38485871T= | CA1540254259 | LIFR | c.2445A= (p.Thr815=) n.278A= c.2499A= (p.Thr833=) | |
| 5 | g.38485872G>A | CA359536060 | LIFR | c.2444C>T (p.Thr815Ile) n.277C>T c.2498C>T (p.Thr833Ile) | |
| 5 | g.38485872G>C | CA359536062 | LIFR | c.2444C>G (p.Thr815Arg) n.277C>G c.2498C>G (p.Thr833Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38485872G= | CA1540254279 | LIFR | c.2444C= (p.Thr815=) n.277C= c.2498C= (p.Thr833=) | |
| 5 | g.38485872G>T | CA359536063 | LIFR | c.2444C>A (p.Thr815Lys) n.277C>A c.2498C>A (p.Thr833Lys) | |
| 5 | g.38485873T>A | CA359536064 | LIFR | c.2443A>T (p.Thr815Ser) n.276A>T c.2497A>T (p.Thr833Ser) | |
| 5 | g.38485873T>C | CA3242665 | LIFR | c.2443A>G (p.Thr815Ala) n.276A>G c.2497A>G (p.Thr833Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38485873T>G | CA359536067 | LIFR | c.2443A>C (p.Thr815Pro) n.276A>C c.2497A>C (p.Thr833Pro) | |
| 5 | g.38485873T= | CA1540254288 | LIFR | c.2443A= (p.Thr815=) n.276A= c.2497A= (p.Thr833=) | |
| 5 | g.38485874A>C | CA359536068 | LIFR | c.2442T>G (p.Tyr814Ter) n.275T>G c.2496T>G (p.Tyr832Ter) | |
| 5 | g.38485874A>G | CA443943822 | LIFR | c.2442T>C (p.Tyr814=) n.275T>C c.2496T>C (p.Tyr832=) | ClinVar gnomAD v4 |
| 5 | g.38485874A>T | CA359536069 | LIFR | c.2442T>A (p.Tyr814Ter) n.275T>A c.2496T>A (p.Tyr832Ter) | |
| 5 | g.38485875T>A | CA359536071 | LIFR | c.2441A>T (p.Tyr814Phe) n.274A>T c.2495A>T (p.Tyr832Phe) | |
| 5 | g.38485875T>C | CA359536073 | LIFR | c.2441A>G (p.Tyr814Cys) n.274A>G c.2495A>G (p.Tyr832Cys) | gnomAD v4 |
| 5 | g.38485875T>G | CA359536075 | LIFR | c.2441A>C (p.Tyr814Ser) n.274A>C c.2495A>C (p.Tyr832Ser) | |
| 5 | g.38485876A>C | CA359536080 | LIFR | c.2440T>G (p.Tyr814Asp) n.273T>G c.2494T>G (p.Tyr832Asp) | |
| 5 | g.38485876A>G | CA359536078 | LIFR | c.2440T>C (p.Tyr814His) n.273T>C c.2494T>C (p.Tyr832His) | |
| 5 | g.38485876A>T | CA359536076 | LIFR | c.2440T>A (p.Tyr814Asn) n.273T>A c.2494T>A (p.Tyr832Asn) | |
| 5 | g.38485876dup | CA2673628182 | LIFR | c.2440dup (p.Tyr814LeufsTer?) n.273dup c.2494dup (p.Tyr832LeufsTer?) | gnomAD v4 |
| 5 | g.38485877G>A | CA443943825 | LIFR | c.2439C>T (p.Ala813=) n.272C>T c.2493C>T (p.Ala831=) | |
| 5 | g.38485877G>C | CA443943824 | LIFR | c.2439C>G (p.Ala813=) n.272C>G c.2493C>G (p.Ala831=) | |
| 5 | g.38485877G>T | CA443943823 | LIFR | c.2439C>A (p.Ala813=) n.272C>A c.2493C>A (p.Ala831=) | |
| 5 | g.38485878G>A | CA359536081 | LIFR | c.2438C>T (p.Ala813Val) n.271C>T c.2492C>T (p.Ala831Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38485878G>C | CA359536084 | LIFR | c.2438C>G (p.Ala813Gly) n.271C>G c.2492C>G (p.Ala831Gly) | |
| 5 | g.38485878G= | CA1540254297 | LIFR | c.2438C= (p.Ala813=) n.271C= c.2492C= (p.Ala831=) | |
| 5 | g.38485878G>T | CA359536082 | LIFR | c.2438C>A (p.Ala813Asp) n.271C>A c.2492C>A (p.Ala831Asp) | |
| 5 | g.38485879C>A | CA359536086 | LIFR | c.2437G>T (p.Ala813Ser) n.270G>T c.2491G>T (p.Ala831Ser) | |
| 5 | g.38485879C>G | CA359536087 | LIFR | c.2437G>C (p.Ala813Pro) n.270G>C c.2491G>C (p.Ala831Pro) | |
| 5 | g.38485879C>T | CA359536089 | LIFR | c.2437G>A (p.Ala813Thr) n.270G>A c.2491G>A (p.Ala831Thr) | COSMIC COSMIC |
| 5 | g.38485880T>A | CA443943828 | LIFR | c.2436A>T (p.Arg812=) n.269A>T c.2490A>T (p.Arg830=) | |
| 5 | g.38485880T>C | CA443943827 | LIFR | c.2436A>G (p.Arg812=) n.269A>G c.2490A>G (p.Arg830=) | |
| 5 | g.38485880T>G | CA443943826 | LIFR | c.2436A>C (p.Arg812=) n.269A>C c.2490A>C (p.Arg830=) | |
| 5 | g.38485881C>A | CA359536090 | LIFR | c.2435G>T (p.Arg812Leu) n.268G>T c.2489G>T (p.Arg830Leu) | |
| 5 | g.38485881C= | CA1540254304 | LIFR | c.2435G= (p.Arg812=) n.268G= c.2489G= (p.Arg830=) | |
| 5 | g.38485881C>G | CA359536092 | LIFR | c.2435G>C (p.Arg812Pro) n.268G>C c.2489G>C (p.Arg830Pro) | |
| 5 | g.38485881C>T | CA3242666 | LIFR | c.2435G>A (p.Arg812Gln) n.268G>A c.2489G>A (p.Arg830Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.38485882G>A | CA3242667 | LIFR | c.2434C>T (p.Arg812Ter) n.267C>T c.2488C>T (p.Arg830Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38485882G>C | CA359536095 | LIFR | c.2434C>G (p.Arg812Gly) n.267C>G c.2488C>G (p.Arg830Gly) | dbSNP gnomAD v2 |
| 5 | g.38485882G= | CA1540254312 | LIFR | c.2434C= (p.Arg812=) n.267C= c.2488C= (p.Arg830=) | |
| 5 | g.38485882G>T | CA443943829 | LIFR | c.2434C>A (p.Arg812=) n.267C>A c.2488C>A (p.Arg830=) | |
| 5 | g.38485883C>A | CA359536097 | LIFR | c.2433G>T (p.Leu811Phe) n.266G>T c.2487G>T (p.Leu829Phe) | gnomAD v4 |
| 5 | g.38485883C>G | CA359536099 | LIFR | c.2433G>C (p.Leu811Phe) n.266G>C c.2487G>C (p.Leu829Phe) | gnomAD v4 |
| 5 | g.38485883C>T | CA443943830 | LIFR | c.2433G>A (p.Leu811=) n.266G>A c.2487G>A (p.Leu829=) | ClinVar |
| 5 | g.38485884A>C | CA359536105 | LIFR | c.2432T>G (p.Leu811Trp) n.265T>G c.2486T>G (p.Leu829Trp) | |
| 5 | g.38485884A>G | CA359536103 | LIFR | c.2432T>C (p.Leu811Ser) n.265T>C c.2486T>C (p.Leu829Ser) | |
| 5 | g.38485884A>T | CA359536101 | LIFR | c.2432T>A (p.Leu811Ter) n.265T>A c.2486T>A (p.Leu829Ter) | |
| 5 | g.38485885A>C | CA359536106 | LIFR | c.2431T>G (p.Leu811Val) n.264T>G c.2485T>G (p.Leu829Val) | |
| 5 | g.38485885A>G | CA443943831 | LIFR | c.2431T>C (p.Leu811=) n.264T>C c.2485T>C (p.Leu829=) | |
| 5 | g.38485885A>T | CA359536107 | LIFR | c.2431T>A (p.Leu811Met) n.264T>A c.2485T>A (p.Leu829Met) | |
| 5 | g.38485886G>A | CA3242668 | LIFR | c.2430C>T (p.Val810=) n.263C>T c.2484C>T (p.Val828=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38485886G>C | CA443943832 | LIFR | c.2430C>G (p.Val810=) n.263C>G c.2484C>G (p.Val828=) | |
| 5 | g.38485886G= | CA1540254317 | LIFR | c.2430C= (p.Val810=) n.263C= c.2484C= (p.Val828=) | |
| 5 | g.38485886G>T | CA443943833 | LIFR | c.2430C>A (p.Val810=) n.263C>A c.2484C>A (p.Val828=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38485887A= | CA1540254327 | LIFR | c.2429T= (p.Val810=) n.262T= c.2483T= (p.Val828=) | |
| 5 | g.38485887A>C | CA359536108 | LIFR | c.2429T>G (p.Val810Gly) n.262T>G c.2483T>G (p.Val828Gly) | |
| 5 | g.38485887A>G | CA117143069 | LIFR | c.2429T>C (p.Val810Ala) n.262T>C c.2483T>C (p.Val828Ala) | dbSNP |
| 5 | g.38485887A>T | CA359536109 | LIFR | c.2429T>A (p.Val810Asp) n.262T>A c.2483T>A (p.Val828Asp) | |
| 5 | g.38485888C>A | CA359536110 | LIFR | c.2428G>T (p.Val810Phe) n.261G>T c.2482G>T (p.Val828Phe) | |
| 5 | g.38485888C>G | CA359536112 | LIFR | c.2428G>C (p.Val810Leu) n.261G>C c.2482G>C (p.Val828Leu) | |
| 5 | g.38485888C>T | CA359536113 | LIFR | c.2428G>A (p.Val810Ile) n.261G>A c.2482G>A (p.Val828Ile) | |
| 5 | g.38485889C>A | CA443943834 | LIFR | c.2427G>T (p.Leu809=) n.260G>T c.2481G>T (p.Leu827=) | |
| 5 | g.38485889C= | CA1540254332 | LIFR | c.2427G= (p.Leu809=) n.260G= c.2481G= (p.Leu827=) | |
| 5 | g.38485889C>G | CA443943835 | LIFR | c.2427G>C (p.Leu809=) n.260G>C c.2481G>C (p.Leu827=) | |
| 5 | g.38485889C>T | CA443943836 | LIFR | c.2427G>A (p.Leu809=) n.260G>A c.2481G>A (p.Leu827=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38485890A= | CA1540254340 | LIFR | c.2426T= (p.Leu809=) n.259T= c.2480T= (p.Leu827=) | |
| 5 | g.38485890A>C | CA359536114 | LIFR | c.2426T>G (p.Leu809Arg) n.259T>G c.2480T>G (p.Leu827Arg) | |
| 5 | g.38485890A>G | CA359536116 | LIFR | c.2426T>C (p.Leu809Pro) n.259T>C c.2480T>C (p.Leu827Pro) | dbSNP |
| 5 | g.38485890A>T | CA359536118 | LIFR | c.2426T>A (p.Leu809Gln) n.259T>A c.2480T>A (p.Leu827Gln) | |
| 5 | g.38485891G>A | CA3242669 | LIFR | c.2425C>T (p.Leu809=) n.258C>T c.2479C>T (p.Leu827=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38485891G>C | CA359536122 | LIFR | c.2425C>G (p.Leu809Val) n.258C>G c.2479C>G (p.Leu827Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38485891G= | CA1540254372 | LIFR | c.2425C= (p.Leu809=) n.258C= c.2479C= (p.Leu827=) | |
| 5 | g.38485891G>T | CA359536120 | LIFR | c.2425C>A (p.Leu809Met) n.258C>A c.2479C>A (p.Leu827Met) | |
| 5 | g.38485892G>A | CA443943837 | LIFR | c.2424C>T (p.His808=) n.257C>T c.2478C>T (p.His826=) | |
| 5 | g.38485892G>C | CA3242670 | LIFR | c.2424C>G (p.His808Gln) n.257C>G c.2478C>G (p.His826Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38485892G= | CA1540254377 | LIFR | c.2424C= (p.His808=) n.257C= c.2478C= (p.His826=) | |
| 5 | g.38485892G>T | CA359536127 | LIFR | c.2424C>A (p.His808Gln) n.257C>A c.2478C>A (p.His826Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38485893T>A | CA359536129 | LIFR | c.2423A>T (p.His808Leu) n.256A>T c.2477A>T (p.His826Leu) | |
| 5 | g.38485893T>C | CA359536130 | LIFR | c.2423A>G (p.His808Arg) n.256A>G c.2477A>G (p.His826Arg) | ClinVar dbSNP gnomAD v4 |
| 5 | g.38485893T>G | CA359536131 | LIFR | c.2423A>C (p.His808Pro) n.256A>C c.2477A>C (p.His826Pro) | dbSNP |
| 5 | g.38485893T= | CA1540254391 | LIFR | c.2423A= (p.His808=) n.256A= c.2477A= (p.His826=) | |
| 5 | g.38485894G>A | CA359536135 | LIFR | c.2422C>T (p.His808Tyr) n.255C>T c.2476C>T (p.His826Tyr) | gnomAD v4 |
| 5 | g.38485894G>C | CA359536137 | LIFR | c.2422C>G (p.His808Asp) n.255C>G c.2476C>G (p.His826Asp) | |
| 5 | g.38485894G= | CA1540254396 | LIFR | c.2422C= (p.His808=) n.255C= c.2476C= (p.His826=) | |
| 5 | g.38485894G>T | CA3242671 | LIFR | c.2422C>A (p.His808Asn) n.255C>A c.2476C>A (p.His826Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38485894_38485897dup | CA2673628183 | LIFR | c.2419_2422dup (p.His808LeufsTer?) n.252_255dup c.2473_2476dup (p.His826LeufsTer?) | gnomAD v4 |
| 5 | g.38485895G>A | CA443943838 | LIFR | c.2421C>T (p.Tyr807=) n.254C>T c.2475C>T (p.Tyr825=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38485895G>C | CA359536139 | LIFR | c.2421C>G (p.Tyr807Ter) n.254C>G c.2475C>G (p.Tyr825Ter) | |
| 5 | g.38485895G= | CA1540254403 | LIFR | c.2421C= (p.Tyr807=) n.254C= c.2475C= (p.Tyr825=) | |
| 5 | g.38485895G>T | CA359536140 | LIFR | c.2421C>A (p.Tyr807Ter) n.254C>A c.2475C>A (p.Tyr825Ter) | |
| 5 | g.38485896T>A | CA359536142 | LIFR | c.2420A>T (p.Tyr807Phe) n.253A>T c.2474A>T (p.Tyr825Phe) | |
| 5 | g.38485896T>C | CA359536143 | LIFR | c.2420A>G (p.Tyr807Cys) n.253A>G c.2474A>G (p.Tyr825Cys) | |
| 5 | g.38485896T>G | CA359536145 | LIFR | c.2420A>C (p.Tyr807Ser) n.253A>C c.2474A>C (p.Tyr825Ser) | dbSNP |
| 5 | g.38485896T= | CA1540254405 | LIFR | c.2420A= (p.Tyr807=) n.253A= c.2474A= (p.Tyr825=) | |
| 5 | g.38485897A>C | CA359536150 | LIFR | c.2419T>G (p.Tyr807Asp) n.252T>G c.2473T>G (p.Tyr825Asp) | |
| 5 | g.38485897A>G | CA359536148 | LIFR | c.2419T>C (p.Tyr807His) n.252T>C c.2473T>C (p.Tyr825His) | |
| 5 | g.38485897A>T | CA359536147 | LIFR | c.2419T>A (p.Tyr807Asn) n.252T>A c.2473T>A (p.Tyr825Asn) | |
| 5 | g.38485898A= | CA1540254410 | LIFR | c.2418T= (p.Ser806=) n.251T= c.2472T= (p.Ser824=) | |
| 5 | g.38485898A>C | CA359536155 | LIFR | c.2418T>G (p.Ser806Arg) n.251T>G c.2472T>G (p.Ser824Arg) | |
| 5 | g.38485898A>G | CA443943839 | LIFR | c.2418T>C (p.Ser806=) n.251T>C c.2472T>C (p.Ser824=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38485898A>T | CA359536157 | LIFR | c.2418T>A (p.Ser806Arg) n.251T>A c.2472T>A (p.Ser824Arg) | |
| 5 | g.38485899C>A | CA359536159 | LIFR | c.2417G>T (p.Ser806Ile) n.250G>T c.2471G>T (p.Ser824Ile) | |
| 5 | g.38485899C= | CA1540254413 | LIFR | c.2417G= (p.Ser806=) n.250G= c.2471G= (p.Ser824=) | |
| 5 | g.38485899C>G | CA3242672 | LIFR | c.2417G>C (p.Ser806Thr) n.250G>C c.2471G>C (p.Ser824Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38485899C>T | CA359536162 | LIFR | c.2417G>A (p.Ser806Asn) n.250G>A c.2471G>A (p.Ser824Asn) | |
| 5 | g.38485900T>A | CA359536164 | LIFR | c.2416A>T (p.Ser806Cys) n.249A>T c.2470A>T (p.Ser824Cys) | |
| 5 | g.38485900T>C | CA359536165 | LIFR | c.2416A>G (p.Ser806Gly) n.249A>G c.2470A>G (p.Ser824Gly) | gnomAD v4 |
| 5 | g.38485900T>G | CA359536167 | LIFR | c.2416A>C (p.Ser806Arg) n.249A>C c.2470A>C (p.Ser824Arg) | |
| 5 | g.38485901T>A | CA443943840 | LIFR | c.2415A>T (p.Thr805=) n.248A>T c.2469A>T (p.Thr823=) | |
| 5 | g.38485901T>C | CA443943842 | LIFR | c.2415A>G (p.Thr805=) n.248A>G c.2469A>G (p.Thr823=) | |
| 5 | g.38485901T>G | CA443943841 | LIFR | c.2415A>C (p.Thr805=) n.248A>C c.2469A>C (p.Thr823=) | |
| 5 | g.38485902G>A | CA359536169 | LIFR | c.2414C>T (p.Thr805Ile) n.247C>T c.2468C>T (p.Thr823Ile) | |
| 5 | g.38485902G>C | CA359536170 | LIFR | c.2414C>G (p.Thr805Arg) n.247C>G c.2468C>G (p.Thr823Arg) | gnomAD v4 |
| 5 | g.38485902G= | CA1540254418 | LIFR | c.2414C= (p.Thr805=) n.247C= c.2468C= (p.Thr823=) | |
| 5 | g.38485902G>T | CA117143113 | LIFR | c.2414C>A (p.Thr805Lys) n.247C>A c.2468C>A (p.Thr823Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38485903T>A | CA359536171 | LIFR | c.2413A>T (p.Thr805Ser) n.246A>T c.2467A>T (p.Thr823Ser) | |
| 5 | g.38485903T>C | CA359536172 | LIFR | c.2413A>G (p.Thr805Ala) n.246A>G c.2467A>G (p.Thr823Ala) | |
| 5 | g.38485903T>G | CA359536173 | LIFR | c.2413A>C (p.Thr805Pro) n.246A>C c.2467A>C (p.Thr823Pro) | |
| 5 | g.38485904T>A | CA359536175 | LIFR | c.2412A>T (p.Lys804Asn) n.245A>T c.2466A>T (p.Lys822Asn) | |
| 5 | g.38485904T>C | CA443943843 | LIFR | c.2412A>G (p.Lys804=) n.245A>G c.2466A>G (p.Lys822=) | |
| 5 | g.38485904T>G | CA359536176 | LIFR | c.2412A>C (p.Lys804Asn) n.245A>C c.2466A>C (p.Lys822Asn) | |
| 5 | g.38485905T>A | CA359536178 | LIFR | c.2411A>T (p.Lys804Ile) n.244A>T c.2465A>T (p.Lys822Ile) | |
| 5 | g.38485905T>C | CA359536180 | LIFR | c.2411A>G (p.Lys804Arg) n.244A>G c.2465A>G (p.Lys822Arg) | |
| 5 | g.38485905T>G | CA3242673 | LIFR | c.2411A>C (p.Lys804Thr) n.244A>C c.2465A>C (p.Lys822Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38485905T= | CA1540254424 | LIFR | c.2411A= (p.Lys804=) n.244A= c.2465A= (p.Lys822=) | |
| 5 | g.38485906T>A | CA359536182 | LIFR | c.2410A>T (p.Lys804Ter) n.243A>T c.2464A>T (p.Lys822Ter) | |
| 5 | g.38485906T>C | CA3242674 | LIFR | c.2410A>G (p.Lys804Glu) n.243A>G c.2464A>G (p.Lys822Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38485906T>G | CA359536185 | LIFR | c.2410A>C (p.Lys804Gln) n.243A>C c.2464A>C (p.Lys822Gln) | |
| 5 | g.38485906T= | CA1540254429 | LIFR | c.2410A= (p.Lys804=) n.243A= c.2464A= (p.Lys822=) | |
| 5 | g.38485907A>C | CA443943844 | LIFR | c.2409T>G (p.Gly803=) n.242T>G c.2463T>G (p.Gly821=) | |
| 5 | g.38485907A>G | CA443943845 | LIFR | c.2409T>C (p.Gly803=) n.242T>C c.2463T>C (p.Gly821=) | |
| 5 | g.38485907A>T | CA443943846 | LIFR | c.2409T>A (p.Gly803=) n.242T>A c.2463T>A (p.Gly821=) | |
| 5 | g.38485908C>A | CA359536187 | LIFR | c.2408G>T (p.Gly803Val) n.241G>T c.2462G>T (p.Gly821Val) | |
| 5 | g.38485908C= | CA1540254435 | LIFR | c.2408G= (p.Gly803=) n.241G= c.2462G= (p.Gly821=) | |
| 5 | g.38485908C>G | CA359536188 | LIFR | c.2408G>C (p.Gly803Ala) n.241G>C c.2462G>C (p.Gly821Ala) | |
| 5 | g.38485908C>T | CA359536189 | LIFR | c.2408G>A (p.Gly803Asp) n.241G>A c.2462G>A (p.Gly821Asp) | dbSNP |
| 5 | g.38485909C>A | CA359536190 | LIFR | c.2407G>T (p.Gly803Cys) n.240G>T c.2461G>T (p.Gly821Cys) | |
| 5 | g.38485909C= | CA1540254445 | LIFR | c.2407G= (p.Gly803=) n.240G= c.2461G= (p.Gly821=) | |
| 5 | g.38485909C>G | CA3242675 | LIFR | c.2407G>C (p.Gly803Arg) n.240G>C c.2461G>C (p.Gly821Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38485909C>T | CA359536193 | LIFR | c.2407G>A (p.Gly803Ser) n.240G>A c.2461G>A (p.Gly821Ser) | |
| 5 | g.38485910T>A | CA359536195 | LIFR | c.2406A>T (p.Gln802His) n.239A>T c.2460A>T (p.Gln820His) | |
| 5 | g.38485910T>C | CA443943847 | LIFR | c.2406A>G (p.Gln802=) n.239A>G c.2460A>G (p.Gln820=) | gnomAD v4 |
| 5 | g.38485910T>G | CA359536197 | LIFR | c.2406A>C (p.Gln802His) n.239A>C c.2460A>C (p.Gln820His) | |
| 5 | g.38485911T>A | CA359536202 | LIFR | c.2405A>T (p.Gln802Leu) n.238A>T c.2459A>T (p.Gln820Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38485911T>C | CA359536200 | LIFR | c.2405A>G (p.Gln802Arg) n.238A>G c.2459A>G (p.Gln820Arg) | |
| 5 | g.38485911T>G | CA359536198 | LIFR | c.2405A>C (p.Gln802Pro) n.238A>C c.2459A>C (p.Gln820Pro) | |
| 5 | g.38485911T= | CA1540254451 | LIFR | c.2405A= (p.Gln802=) n.238A= c.2459A= (p.Gln820=) | |
| 5 | g.38485912G>A | CA359536203 | LIFR | c.2404C>T (p.Gln802Ter) n.237C>T c.2458C>T (p.Gln820Ter) | |
| 5 | g.38485912G>C | CA359536204 | LIFR | c.2404C>G (p.Gln802Glu) n.237C>G c.2458C>G (p.Gln820Glu) | |
| 5 | g.38485912G>T | CA359536206 | LIFR | c.2404C>A (p.Gln802Lys) n.237C>A c.2458C>A (p.Gln820Lys) | |
| 5 | g.38485913A>C | CA443943848 | LIFR | c.2403T>G (p.Leu801=) n.236T>G c.2457T>G (p.Leu819=) | |
| 5 | g.38485913A>G | CA443943849 | LIFR | c.2403T>C (p.Leu801=) n.236T>C c.2457T>C (p.Leu819=) | |
| 5 | g.38485913A>T | CA443943850 | LIFR | c.2403T>A (p.Leu801=) n.236T>A c.2457T>A (p.Leu819=) |