Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-75435790-T-A p.Ser210Cys missense AGAP5 1 59994 1.66683E-5 29997 0 NA
10-75435835-G-T c.586-3C>A splice_region AGAP5 1 76376 1.30931E-5 38188 0 NA
10-75451793-T-C c.396+8A>G splice_region AGAP5 2 73866 2.70761E-5 36933 0 0.00202205
10-75451811-C-T p.Cys129Tyr missense AGAP5 41 74574 5.49789E-4 37287 2 0.0116517
10-75454491-C-G c.361+3G>C splice_region AGAP5 2 80360 2.4888E-5 40180 0 NA
10-75454540-G-T p.Ala105Ala synonymous AGAP5 1 78528 1.27343E-5 39264 0 0.00254777
10-75454549-G-T p.Asn102Lys missense AGAP5 1 78348 1.27636E-5 39174 0 6.32911E-4
10-75454568-T-C c.293-6A>G splice_region AGAP5 2 79374 2.51972E-5 39687 0 3.34874E-5
10-75456908-G-A p.Ser79Ser synonymous AGAP5 1 79772 1.25357E-5 39886 0 2.54874E-4
10-75457288-T-C c.223+3A>G splice_region AGAP5 1 83174 1.2023E-5 41587 0 NA
10-75457297-G-C p.Pro73Ala missense AGAP5 1 83218 1.20166E-5 41609 0 8.29077E-6
10-75457297-G-A p.Pro73Ser missense AGAP5 1 83218 1.20166E-5 41609 0 3.9977E-6
10-75457298-C-T p.Met72Ile missense AGAP5 2 83212 2.4035E-5 41606 0 NA
10-75457311-C-T p.Arg68His missense AGAP5 14 83228 1.68213E-4 41614 0 0.00159405
10-75457324-T-C p.Met64Val missense AGAP5 4 83224 4.80631E-5 41612 0 2.79807E-5
10-75457334-C-G p.Glu60Asp missense AGAP5 2 83198 2.4039E-5 41599 0 5.31915E-4
10-75457336-C-T p.Glu60Lys missense AGAP5 1 83194 1.20201E-5 41597 0 NA
10-75457345-C-G p.Glu57Gln missense AGAP5 2 83164 2.40489E-5 41582 0 NA
10-75457349-G-A p.Thr55Thr synonymous AGAP5 1 83116 1.20314E-5 41558 0 2.49207E-4
10-75457354-C-T p.Val54Met missense AGAP5 2 83098 2.4068E-5 41549 0 NA
10-75457355-C-T p.Glu53Glu synonymous AGAP5 1 83104 1.20331E-5 41552 0 NA
10-75457364-C-T p.Gln50Gln synonymous AGAP5 2 83030 2.40877E-5 41515 0 NA
10-75457367-C-T p.Val49Val synonymous AGAP5 33 82990 3.97638E-4 41495 0 0.00101413
10-75457384-G-A p.Pro44Ser missense AGAP5 9 82840 1.08643E-4 41420 1 6.37918E-5
10-75457385-C-T p.Ala43Ala synonymous AGAP5 11 82826 1.32809E-4 41413 0 5.58659E-4
10-75457403-C-T p.Gly37Gly synonymous AGAP5 8 82640 9.68054E-5 41320 0 0.0010661
10-75457404-C-T p.Gly37Glu missense AGAP5 1 82620 1.21036E-5 41310 0 3.19775E-5
10-75457405-C-T p.Gly37Arg missense AGAP5 1 82604 1.2106E-5 41302 0 1.50706E-4
10-75457407-G-C p.Ala36Gly missense AGAP5 1 82548 1.21142E-5 41274 0 NA
10-75457408-C-A p.Ala36Ser missense AGAP5 1 82580 1.21095E-5 41290 0 NA
10-75457410-C-G p.Gly35Ala missense AGAP5 1 82580 1.21095E-5 41290 0 3.35036E-5
10-75457444-C-A p.Val24Leu missense AGAP5 1 82254 1.21575E-5 41127 0 NA
10-75457446-G-A p.Ser23Leu missense AGAP5 3 82204 3.64946E-5 41102 0 1.68183E-5
10-75457450-C-T p.Gly22Arg missense AGAP5 2 82194 2.43327E-5 41097 0 NA
10-75457454-T-C p.Gln20Gln synonymous AGAP5 3 82142 3.65221E-5 41071 0 9.99467E-5
10-75457458-T-C p.Gln19Arg missense AGAP5 3 82142 3.65221E-5 41071 0 NA
10-75457461-T-G p.Asp18Ala missense AGAP5 1 82104 1.21797E-5 41052 0 NA
10-75457477-C-T p.Val13Ile missense AGAP5 4 81966 4.88007E-5 40983 0 1.1937E-4
10-75457478-G-A p.Ser12Ser synonymous AGAP5 7 81928 8.54409E-5 40964 0 8.43256E-5
10-75457489-C-T p.Val9Met missense AGAP5 1 81890 1.22115E-5 40945 0 NA
10-75457503-A-G p.Ile4Thr missense AGAP5 10 81840 1.2219E-4 40920 0 3.77634E-5
10-75457507-T-A p.Asn3Tyr missense AGAP5 3 81798 3.66757E-5 40899 0 8.53767E-6
10-75457513-T-C p.Met1? start_lost AGAP5 1 81774 1.22288E-5 40887 0 4.20175E-6
10-75457569-C-T c.-56G>A 5_prime_UTR_premature_start_codon_gain AGAP5 3 80868 3.70975E-5 40434 0 NA
10-75457589-G-A c.-76C>T 5_prime_UTR_premature_start_codon_gain AGAP5 2 80084 2.49738E-5 40042 0 6.36902E-5