Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-50192110-C-G c.-985C>G 5_prime_UTR_premature_start_codon_gain ADM5 13 2984 0.00435657 1492 0 0.00226302
19-50192390-C-T c.-705C>T 5_prime_UTR_premature_start_codon_gain ADM5 1 2968 3.36927E-4 1484 0 NA
19-50192534-C-T c.-561C>T 5_prime_UTR_premature_start_codon_gain ADM5 2 2946 6.78887E-4 1473 0 0.00181552
19-50192860-G-T c.-235G>T 5_prime_UTR_premature_start_codon_gain ADM5 7 26816 2.61038E-4 13408 0 8.60092E-4
19-50192876-C-T c.-219C>T 5_prime_UTR_premature_start_codon_gain ADM5 1 31068 3.21875E-5 15534 0 NA
19-50193008-C-A c.-87C>A 5_prime_UTR_premature_start_codon_gain ADM5 1 78142 1.27972E-5 39071 0 NA
19-50193030-C-T c.-65C>T 5_prime_UTR_premature_start_codon_gain ADM5 1 79662 1.2553E-5 39831 0 3.18634E-5
19-50193070-C-T c.-25C>T 5_prime_UTR_premature_start_codon_gain ADM5 1 80910 1.23594E-5 40455 0 1.68927E-5
19-50193101-A-G p.Ile3Val missense ADM5 3 81750 3.66972E-5 40875 0 3.35205E-5
19-50193108-T-C p.Ile5Thr missense ADM5 2 81832 2.44403E-5 40916 0 5.62805E-5
19-50193109-C-A p.Ile5Ile synonymous ADM5 782 81816 0.00955803 40908 17 0.0204283
19-50193110-C-A p.Leu6Ile missense ADM5 1 81862 1.22157E-5 40931 0 NA
19-50193127-C-T p.Leu11Leu synonymous ADM5 1 81910 1.22085E-5 40955 0 NA
19-50193129-T-C p.Leu12Pro missense ADM5 6 81914 7.32476E-5 40957 0 2.09003E-4
19-50193132-C-T p.Ala13Val missense ADM5 4 81882 4.88508E-5 40941 0 8.36023E-6
19-50193133-C-T p.Ala13Ala synonymous ADM5 2 81918 2.44147E-5 40959 0 0.00125
19-50193136-C-T p.Phe14Phe synonymous ADM5 1 81922 1.22067E-5 40961 0 NA
19-50193140-G-T p.Ala16Ser missense ADM5 4 81860 4.88639E-5 40930 0 3.21657E-5
19-50193140-G-A p.Ala16Thr missense ADM5 2 81860 2.4432E-5 40930 0 NA
19-50193148-G-T p.Gly18Gly synonymous ADM5 1 81864 1.22154E-5 40932 0 3.34471E-5
19-50193163-A-G p.Ala23Ala synonymous ADM5 1053 81724 0.0128848 40862 15 0.04
19-50193171-G-A c.74+3G>A splice_region ADM5 1 81622 1.22516E-5 40811 0 NA
19-50193175-A-C c.74+7A>C splice_region ADM5 1 81496 1.22705E-5 40748 0 NA
19-50193376-C-T p.Gln30* stop_gained ADM5 4 72700 5.50206E-5 36350 0 9.55657E-5
19-50193376-C-G p.Gln30Glu missense ADM5 1 72700 1.37552E-5 36350 0 NA
19-50193383-C-T p.Pro32Leu missense ADM5 1 72836 1.37295E-5 36418 0 1.8121E-5
19-50193384-C-G p.Pro32Pro synonymous ADM5 51 72846 7.00107E-4 36423 0 8.81931E-4
19-50193388-C-A p.His34Asn missense ADM5 4 72678 5.50373E-5 36339 0 NA
19-50193392-G-A p.Arg35His missense ADM5 1 72576 1.37787E-5 36288 0 NA
19-50193393-C-T p.Arg35Arg synonymous ADM5 8 72656 1.10108E-4 36328 0 0.00274291
19-50193394-G-A p.Gly36Arg missense ADM5 1 72754 1.37449E-5 36377 0 NA
19-50193411-G-A p.Leu41Leu synonymous ADM5 1 73406 1.36229E-5 36703 0 NA
19-50193424-A-G p.Thr46Ala missense ADM5 1 73878 1.35358E-5 36939 0 NA
19-50193431-G-A p.Arg48His missense ADM5 37 74318 4.97861E-4 37159 2 0.00163934
19-50193437-C-A p.Ala50Glu missense ADM5 596 74932 0.00795388 37466 3 0.0275915
19-50193437-CGGA-C p.Glu51del conservative_inframe_deletion ADM5 1 74976 1.33376E-5 37488 0 NA
19-50193441-G-C p.Glu51Asp missense ADM5 3 75594 3.96857E-5 37797 0 9.67305E-5
19-50193447-A-G p.Ile53Met missense ADM5 3 76384 3.92752E-5 38192 0 4.84449E-5
19-50193447-A-T p.Ile53Ile synonymous ADM5 1 76386 1.30914E-5 38193 0 NA
19-50193450-C-T p.Tyr54Tyr synonymous ADM5 3 76640 3.91441E-5 38320 0 5.43695E-5
19-50193452-G-A p.Trp55* stop_gained ADM5 1 76748 1.30297E-5 38374 0 4.88902E-5
19-50193453-G-T p.Trp55Cys missense ADM5 2 76810 2.60383E-5 38405 0 NA
19-50193464-T-C p.Leu59Pro missense ADM5 1 77872 1.28416E-5 38936 0 5.07357E-5
19-50193471-A-G p.Gln61Gln synonymous ADM5 1 78554 1.27301E-5 39277 0 NA
19-50193475-G-A p.Ala63Thr missense ADM5 1 78672 1.2711E-5 39336 0 NA
19-50193495-A-C p.Pro69Pro synonymous ADM5 1 79616 1.25603E-5 39808 0 NA
19-50193499-GC-G p.Pro72fs frameshift ADM5 1 79860 1.25219E-5 39930 0 6.37592E-5
19-50193500-C-G p.Ala71Gly missense ADM5 3 79850 3.75704E-5 39925 0 1.11346E-4
19-50193513-A-G p.Leu75Leu synonymous ADM5 1 80272 1.24576E-5 40136 0 6.54082E-6
19-50193525-G-A p.Ala79Ala synonymous ADM5 1 80268 1.24583E-5 40134 0 5.61356E-5
19-50193543-C-T p.Gly85Gly synonymous ADM5 1 80656 1.23983E-5 40328 0 NA
19-50193550-C-T p.Pro88Ser missense ADM5 4 80712 4.95589E-5 40356 0 7.61863E-4
19-50193552-G-A p.Pro88Pro synonymous ADM5 2 80760 2.47647E-5 40380 0 NA
19-50193556-C-T p.Arg90Trp missense ADM5 27 80814 3.34101E-4 40407 0 0.003125
19-50193557-G-T p.Arg90Leu missense ADM5 2 80820 2.47464E-5 40410 0 6.53774E-6
19-50193562-C-A p.Pro92Thr missense ADM5 1 80908 1.23597E-5 40454 0 6.53006E-6
19-50193566-G-A p.Gly93Glu missense ADM5 1 80946 1.23539E-5 40473 0 1.95679E-5
19-50193577-G-A p.Ala97Thr missense ADM5 2 81054 2.46749E-5 40527 0 NA
19-50193581-C-T p.Ala98Val missense ADM5 4 81060 4.93462E-5 40530 0 5.85549E-5
19-50193591-A-C p.Leu101Leu synonymous ADM5 1 81190 1.23168E-5 40595 0 NA
19-50193605-C-T p.Ala106Val missense ADM5 3 81288 3.69058E-5 40644 0 NA
19-50193607-C-T p.Arg107Cys missense ADM5 66 81296 8.11848E-4 40648 0 0.00351494
19-50193608-G-T p.Arg107Leu missense ADM5 1 81304 1.22995E-5 40652 0 6.37592E-5
19-50193612-G-A p.Trp108* stop_gained ADM5 2 81312 2.45966E-5 40656 0 9.96611E-5
19-50193612-G-C p.Trp108Cys missense ADM5 1 81312 1.22983E-5 40656 0 1.29653E-5
19-50193618-C-T p.Thr110Thr synonymous ADM5 3 81318 3.68922E-5 40659 0 9.25926E-4
19-50193621-G-A p.Ser111Ser synonymous ADM5 3 81312 3.68949E-5 40656 0 6.47962E-6
19-50193627-G-A p.Thr113Thr synonymous ADM5 4 81316 4.91908E-5 40658 0 6.37918E-5
19-50193631-C-T p.Arg115Cys missense ADM5 2 81310 2.45972E-5 40655 0 1.29757E-5
19-50193631-C-G p.Arg115Gly missense ADM5 1 81310 1.22986E-5 40655 0 NA
19-50193639-C-T p.Leu117Leu synonymous ADM5 229 81232 0.00281909 40616 0 0.00462372
19-50193640-C-T p.Leu118Phe missense ADM5 1 81254 1.23071E-5 40627 0 3.18878E-5
19-50193686-T-C p.Ile133Thr missense ADM5 12 81368 1.47478E-4 40684 0 6.25E-4
19-50193689-C-T p.Ser134Phe missense ADM5 1 81366 1.22901E-5 40683 0 NA
19-50193694-C-T p.Pro136Ser missense ADM5 1 81380 1.2288E-5 40690 0 1.97397E-5
19-50193695-C-T p.Pro136Leu missense ADM5 1 81386 1.22871E-5 40693 0 NA
19-50193717-C-T p.Thr143Thr synonymous ADM5 9 81318 1.10677E-4 40659 0 6.25E-4
19-50193738-G-A p.Pro150Pro synonymous ADM5 2 81152 2.46451E-5 40576 0 NA
19-50193739-G-C p.Gly151Arg missense ADM5 2 81142 2.46481E-5 40571 0 NA
19-50193740-G-A p.Gly151Asp missense ADM5 1 81136 1.2325E-5 40568 0 1.56421E-5
19-50193832-A-C c.*82A>C splice_region ADM5 4 77390 5.16863E-5 38695 0 3.18613E-5