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