Variant
| Variant ID | Consequence | Effect | Gene | AC | AN | AF | NS | NHOM | maxEAF |
|---|---|---|---|---|---|---|---|---|---|
| 12-69742172-C-T | c.-17C>T | 5_prime_UTR_premature_start_codon_gain | LYZ | 1 | 80984 | 1.23481E-5 | 40492 | 0 | NA |
| 12-69742189-A-T | p.Met1? | initiator_codon | LYZ | 1 | 81034 | 1.23405E-5 | 40517 | 0 | NA |
| 12-69742193-A-G | p.Lys2Arg | missense | LYZ | 1 | 81038 | 1.23399E-5 | 40519 | 0 | 7.95292E-6 |
| 12-69742198-C-G | p.Leu4Val | missense | LYZ | 127 | 81046 | 0.00156701 | 40523 | 0 | 0.00277141 |
| 12-69742223-T-C | p.Leu12Pro | missense | LYZ | 1 | 81064 | 1.23359E-5 | 40532 | 0 | NA |
| 12-69742225-T-C | p.Ser13Pro | missense | LYZ | 1 | 81070 | 1.2335E-5 | 40535 | 0 | 3.97643E-6 |
| 12-69742233-G-A | p.Thr15Thr | synonymous | LYZ | 1 | 81062 | 1.23362E-5 | 40531 | 0 | 3.18451E-5 |
| 12-69742237-C-T | p.Gln17* | stop_gained | LYZ | 2 | 81062 | 2.46725E-5 | 40531 | 0 | 8.2375E-6 |
| 12-69742273-AC-A | p.Thr29fs | frameshift | LYZ | 2 | 81016 | 2.46865E-5 | 40508 | 0 | 3.97652E-6 |
| 12-69742278-G-C | p.Leu30Leu | synonymous | LYZ | 1 | 81006 | 1.23448E-5 | 40503 | 0 | 4.77198E-5 |
| 12-69742285-T-G | p.Leu33Val | missense | LYZ | 2 | 81006 | 2.46895E-5 | 40503 | 0 | 8.2394E-6 |
| 12-69742289-G-GA | p.Met35fs | frameshift | LYZ | 1 | 80992 | 1.23469E-5 | 40496 | 0 | 5.03525E-4 |
| 12-69742290-A-C | p.Gly34Gly | synonymous | LYZ | 1 | 80992 | 1.23469E-5 | 40496 | 0 | NA |
| 12-69742291-A-T | p.Met35Leu | missense | LYZ | 1 | 80990 | 1.23472E-5 | 40495 | 0 | NA |
| 12-69742295-A-G | p.Asp36Gly | missense | LYZ | 2 | 80978 | 2.46981E-5 | 40489 | 0 | NA |
| 12-69742329-G-C | c.136+5G>C | splice_region | LYZ | 2 | 80734 | 2.47727E-5 | 40367 | 0 | NA |
| 12-69743902-A-T | p.Lys51* | stop_gained | LYZ | 1 | 80990 | 1.23472E-5 | 40495 | 0 | 6.36902E-5 |
| 12-69743926-C-T | p.Arg59* | stop_gained | LYZ | 3 | 81014 | 3.70306E-5 | 40507 | 0 | 7.41314E-5 |
| 12-69743927-G-A | p.Arg59Gln | missense | LYZ | 8 | 81012 | 9.87508E-5 | 40506 | 0 | 6.37227E-5 |
| 12-69743942-A-G | p.Asn64Ser | missense | LYZ | 1 | 81022 | 1.23423E-5 | 40511 | 0 | 6.25E-4 |
| 12-69743943-T-C | p.Asn64Asn | synonymous | LYZ | 1 | 81024 | 1.2342E-5 | 40512 | 0 | 1.64742E-5 |
| 12-69743953-A-C | p.Arg68Arg | synonymous | LYZ | 1 | 81028 | 1.23414E-5 | 40514 | 0 | 3.97668E-6 |
| 12-69743960-C-G | p.Thr70Ser | missense | LYZ | 2 | 81016 | 2.46865E-5 | 40508 | 0 | NA |
| 12-69743966-A-T | p.Tyr72Phe | missense | LYZ | 19 | 81010 | 2.34539E-4 | 40505 | 0 | 5.03525E-4 |
| 12-69743976-T-C | p.Phe75Phe | synonymous | LYZ | 3 | 81008 | 3.70334E-5 | 40504 | 0 | 4.11916E-5 |
| 12-69743979-G-A | p.Gln76Gln | synonymous | LYZ | 1 | 80998 | 1.2346E-5 | 40499 | 0 | 8.23859E-6 |
| 12-69743982-C-G | p.Ile77Met | missense | LYZ | 1 | 80998 | 1.2346E-5 | 40499 | 0 | NA |
| 12-69743984-A-G | p.Asn78Ser | missense | LYZ | 1 | 80996 | 1.23463E-5 | 40498 | 0 | 8.2394E-6 |
| 12-69743990-G-A | p.Arg80His | missense | LYZ | 1 | 80974 | 1.23496E-5 | 40487 | 0 | 6.76111E-5 |
| 12-69744014-C-A | p.Thr88Asn | missense | LYZ | 4121 | 80860 | 0.0509646 | 40430 | 100 | 0.0446229 |
| 12-69744015-C-A | p.Thr88Thr | synonymous | LYZ | 2 | 80916 | 2.4717E-5 | 40458 | 0 | NA |
| 12-69744020-G-A | p.Gly90Glu | missense | LYZ | 4 | 80906 | 4.94401E-5 | 40453 | 0 | 3.2981E-5 |
| 12-69744023-C-G | p.Ala91Gly | missense | LYZ | 3 | 80898 | 3.70837E-5 | 40449 | 0 | 6.37024E-5 |
| 12-69744037-C-A | p.His96Asn | missense | LYZ | 7 | 80822 | 8.66101E-5 | 40411 | 0 | 0.00100806 |
| 12-69744038-A-T | p.His96Leu | missense | LYZ | 1 | 80818 | 1.23735E-5 | 40409 | 0 | 8.24865E-6 |
| 12-69744043-T-C | p.Ser98Pro | missense | LYZ | 1 | 80798 | 1.23765E-5 | 40399 | 0 | 1.65003E-5 |
| 12-69744286-T-C | c.*220T>C | splice_region | LYZ | 1 | 26330 | 3.79795E-5 | 13165 | 0 | NA |
| 12-69746005-C-G | p.Leu103Val | missense | LYZ | 1 | 80946 | 1.23539E-5 | 40473 | 0 | NA |
| 12-69746013-T-A | p.Asp105Glu | missense | LYZ | 1 | 80984 | 1.23481E-5 | 40492 | 0 | NA |
| 12-69746019-C-T | p.Ile107Ile | synonymous | LYZ | 3 | 80992 | 3.70407E-5 | 40496 | 0 | 1.193E-5 |
| 12-69746020-G-A | p.Ala108Thr | missense | LYZ | 1 | 80988 | 1.23475E-5 | 40494 | 0 | 8.23886E-6 |
| 12-69746024-A-T | p.Asp109Val | missense | LYZ | 1 | 81014 | 1.23435E-5 | 40507 | 0 | NA |
| 12-69746033-C-G | p.Ala112Gly | missense | LYZ | 10 | 81032 | 1.23408E-4 | 40516 | 0 | 2.22916E-4 |
| 12-69746068-A-G | p.Ile124Val | missense | LYZ | 1 | 81002 | 1.23454E-5 | 40501 | 0 | 8.23981E-6 |
| 12-69746086-T-G | c.380+8T>G | splice_region | LYZ | 1 | 80920 | 1.23579E-5 | 40460 | 0 | NA |
| 12-69746934-G-A | p.Val128Met | missense+splice_region | LYZ | 1 | 80964 | 1.23512E-5 | 40482 | 0 | 3.18573E-5 |
| 12-69746940-T-C | p.Trp130Arg | missense | LYZ | 1 | 80990 | 1.23472E-5 | 40495 | 0 | 3.18552E-5 |
| 12-69746966-T-A | p.Asp138Glu | missense | LYZ | 1 | 81014 | 1.23435E-5 | 40507 | 0 | 5.76568E-5 |
| 12-69746967-G-C | p.Val139Leu | missense | LYZ | 14 | 81016 | 1.72805E-4 | 40508 | 0 | 0.00102959 |
| 12-69746984-A-G | p.Lys118Arg | missense | LYZ | 1 | 81010 | 1.23442E-5 | 40505 | 0 | 9.55597E-5 |
| 12-69746986-G-A | p.Gly145Asp | missense | LYZ | 6 | 81004 | 7.40704E-5 | 40502 | 0 | 2.78368E-4 |
| 12-69746999-A-C | p.Ter149Tyrext*? | stop_lost | LYZ | 4 | 80982 | 4.93937E-5 | 40491 | 0 | 2.47105E-5 |
| 12-69747273-C-CTTTTTTTTTTT | c.*228_*229insTTTTTTTTTTT | splice_region | LYZ | 2 | 15476 | 1.29232E-4 | 7738 | 0 | NA |
| 12-69747274-G-T | c.*229G>T | splice_region | LYZ | 2 | 14318 | 1.39684E-4 | 7159 | 0 | NA |
| 12-69747274-G-A | c.*229G>A | splice_region | LYZ | 1 | 14328 | 6.97934E-5 | 7164 | 0 | NA |