Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-88727995-C-G c.-307C>G 5_prime_UTR_premature_start_codon_gain ADIRF 1 11538 8.66701E-5 5769 0 NA
10-88728040-C-T c.-262C>T 5_prime_UTR_premature_start_codon_gain ADIRF 1 21854 4.57582E-5 10927 0 NA
10-88728040-C-G c.-262C>G 5_prime_UTR_premature_start_codon_gain ADIRF 1 21854 4.57582E-5 10927 0 NA
10-88728052-C-G c.-250C>G 5_prime_UTR_premature_start_codon_gain ADIRF 1 26112 3.82966E-5 13056 0 NA
10-88728128-C-T c.-174C>T 5_prime_UTR_premature_start_codon_gain ADIRF 1 59648 1.6765E-5 29824 0 NA
10-88728242-C-T c.-60C>T 5_prime_UTR_premature_start_codon_gain ADIRF 1 80710 1.239E-5 40355 0 NA
10-88728257-C-T c.-45C>T 5_prime_UTR_premature_start_codon_gain ADIRF 1 81094 1.23314E-5 40547 0 7.96263E-5
10-88728260-C-T c.-42C>T 5_prime_UTR_premature_start_codon_gain ADIRF 16 81156 1.97151E-4 40578 0 3.50721E-4
10-88728302-A-G p.Met1? start_lost ADIRF 2 81712 2.44762E-5 40856 0 NA
10-88728303-T-C p.Met1? start_lost ADIRF 1 81682 1.22426E-5 40841 0 5.04541E-4
10-88728304-GGCAA-G p.Ser3fs frameshift ADIRF 2 81702 2.44792E-5 40851 0 1.70949E-5
10-88728310-C-T p.Ser3Ser synonymous ADIRF 1 81704 1.22393E-5 40852 0 3.18613E-5
10-88728325-C-T p.Asp8Asp synonymous ADIRF 1 81716 1.22375E-5 40858 0 1.20106E-5
10-88728337-G-A p.Gln12Gln synonymous ADIRF 2 81620 2.45038E-5 40810 0 NA
10-88728344-G-A p.Gly15Arg missense ADIRF 1 81512 1.22681E-5 40756 0 4.01171E-6
10-88728346-G-T p.Gly15Gly synonymous ADIRF 2 81444 2.45567E-5 40722 0 4.32563E-5
10-88728350-G-A p.Ala17Thr missense ADIRF 1 81278 1.23035E-5 40639 0 NA
10-88728356-G-A p.Glu19Lys missense ADIRF 1 81230 1.23107E-5 40615 0 3.18735E-5
10-88728362-G-A p.Val21Met missense+splice_region ADIRF 4 81108 4.9317E-5 40554 0 4.02418E-6
10-88728367-G-C c.61+5G>C splice_region ADIRF 1 81012 1.23439E-5 40506 0 4.02823E-6
10-88729960-C-T p.Ser22Leu missense ADIRF 1 60088 1.66423E-5 30044 0 0.0010395
10-88729967-C-A p.Ala24Ala synonymous ADIRF 1 62114 1.60994E-5 31057 0 NA
10-88729968-G-A p.Gly25Arg missense ADIRF 1 62692 1.5951E-5 31346 0 0.00259336
10-88729970-A-G p.Gly25Gly synonymous ADIRF 1 63182 1.58273E-5 31591 0 NA
10-88729973-G-C p.Ala26Ala synonymous ADIRF 1 63626 1.57168E-5 31813 0 9.98004E-5
10-88729974-G-A p.Ala27Thr missense ADIRF 3 64096 4.68048E-5 32048 0 3.18593E-5
10-88729997-G-C p.Gln34His missense ADIRF 2 67910 2.94507E-5 33955 0 NA
10-88730008-C-T p.Ala38Val missense ADIRF 2 68910 2.90234E-5 34455 0 9.75419E-5
10-88730009-G-A p.Ala38Ala synonymous ADIRF 2 69176 2.89118E-5 34588 0 9.98203E-5
10-88730232-G-A c.125-1G>A splice_acceptor ADIRF 1 82744 1.20855E-5 41372 0 4.03372E-6
10-88730247-G-A p.Ala47Thr missense ADIRF 16 82866 1.93083E-4 41433 0 1.203E-4
10-88730257-C-T p.Thr50Ile missense ADIRF 3 82916 3.61812E-5 41458 0 NA
10-88730269-T-C p.Ile54Thr missense ADIRF 2 82948 2.41115E-5 41474 0 5.03525E-4
10-88730271-G-A p.Asp55Asn missense ADIRF 13 82970 1.56683E-4 41485 0 1.91351E-4
10-88730273-C-G p.Asp55Glu missense ADIRF 11 82972 1.32575E-4 41486 0 6.3743E-5
10-88730274-A-G p.Lys56Glu missense ADIRF 1 82974 1.2052E-5 41487 0 NA
10-88730293-C-T p.Ser62Phe missense ADIRF 1 83026 1.20444E-5 41513 0 NA
10-88730295-G-A p.Asp63Asn missense ADIRF 1 83026 1.20444E-5 41513 0 NA
10-88730302-T-C p.Phe65Ser missense ADIRF 1 82996 1.20488E-5 41498 0 NA
10-88730306-T-C p.Ser66Ser synonymous ADIRF 3 82982 3.61524E-5 41491 0 3.19122E-5
10-88730312-T-C p.Ile68Ile synonymous ADIRF 42623 82220 0.518402 41110 11228 0.5675
10-88730314-G-C p.Gly69Ala missense ADIRF 1 82958 1.20543E-5 41479 0 NA
10-88730322-T-C p.Phe72Leu missense ADIRF 1 82874 1.20665E-5 41437 0 NA
10-88730324-C-T p.Phe72Phe synonymous ADIRF 2 82844 2.41418E-5 41422 0 1.59378E-4
10-88730325-G-A p.Gly73Ser missense ADIRF 2 82804 2.41534E-5 41402 0 3.0499E-5
10-88730328-C-T p.Leu74Phe missense ADIRF 1 82794 1.20782E-5 41397 0 4.04613E-6
10-88730335-A-T p.Lys76Ile missense ADIRF 3 82716 3.62687E-5 41358 0 1.08486E-5
10-88730672-G-C c.*333G>C splice_region ADIRF 1 33386 2.99527E-5 16693 0 3.19101E-5
10-88730672-G-A c.*333G>A splice_region ADIRF 2 33386 5.99053E-5 16693 0 NA
10-88730676-A-G c.*333+4A>G splice_region ADIRF 1 31990 3.12598E-5 15995 0 NA
10-88743611-G-A c.*334G>A splice_region ADIRF 1 43946 2.27552E-5 21973 0 NA
10-88743691-A-G c.*414A>G splice_region ADIRF 9154 44190 0.207151 22095 1062 0.206145