Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-71384287-T-C c.-100T>C 5_prime_UTR_premature_start_codon_gain AMTN 926 42660 0.0217065 21330 3 0.0376649
4-71384359-C-T c.-28C>T 5_prime_UTR_premature_start_codon_gain AMTN 3 61416 4.88472E-5 30708 0 NA
4-71384475-T-C c.-15-5T>C splice_region AMTN 51 81976 6.22133E-4 40988 0 0.00104596
4-71384477-T-C c.-15-3T>C splice_region AMTN 5 82014 6.09652E-5 41007 0 2.4759E-5
4-71384488-C-T c.-7C>T 5_prime_UTR_premature_start_codon_gain AMTN 71245 79674 0.894206 39837 32024 0.915424
4-71384505-C-T p.Thr4Met missense AMTN 2 82316 2.42966E-5 41158 0 3.58729E-5
4-71384506-G-A p.Thr4Thr synonymous AMTN 6 82328 7.28792E-5 41164 0 1.81339E-4
4-71384506-G-C p.Thr4Thr synonymous AMTN 3 82328 3.64396E-5 41164 0 9.56023E-5
4-71384514-T-C p.Leu7Pro missense AMTN 2 82418 2.42665E-5 41209 0 3.98245E-6
4-71384527-A-G p.Leu11Leu synonymous AMTN 1 82370 1.21403E-5 41185 0 8.24348E-6
4-71384534-A-G p.Thr14Ala missense AMTN 2 82352 2.4286E-5 41176 0 NA
4-71384537-C-T p.Arg15Trp missense AMTN 10927 81970 0.133305 40985 825 0.196375
4-71384538-G-A p.Arg15Gln missense AMTN 1 82250 1.21581E-5 41125 0 6.25E-4
4-71384546-C-T p.Pro18Ser missense+splice_region AMTN 262 82224 0.00318642 41112 1 0.00605211
4-71384548-A-C p.Pro18Pro splice_region+synonymous AMTN 1 82264 1.2156E-5 41132 0 NA
4-71388470-A-C c.55-2A>C splice_acceptor AMTN 1 82678 1.20951E-5 41339 0 6.25E-4
4-71388480-A-T p.Lys21Asn missense AMTN 1 82662 1.20975E-5 41331 0 NA
4-71388483-T-C p.Pro22Pro synonymous AMTN 1 82664 1.20972E-5 41332 0 6.36821E-5
4-71388490-G-A p.Gly25Arg missense AMTN 2 82666 2.41937E-5 41333 0 NA
4-71388501-C-T p.Pro28Pro synonymous AMTN 1 82660 1.20978E-5 41330 0 2.47508E-5
4-71388502-A-T p.Thr29Ser missense AMTN 1 82654 1.20986E-5 41327 0 3.18471E-5
4-71388513-T-C p.Ala32Ala synonymous AMTN 2 82640 2.42014E-5 41320 0 3.30022E-5
4-71388515-C-T p.Pro33Leu missense AMTN 6 82632 7.26111E-5 41316 0 1.15515E-4
4-71388516-G-A p.Pro33Pro synonymous AMTN 3 82636 3.63038E-5 41318 0 3.30066E-5
4-71388527-C-T p.Thr37Ile missense AMTN 1 82632 1.21018E-5 41316 0 NA
4-71388537-C-T p.Asn40Asn synonymous AMTN 1 82628 1.21024E-5 41314 0 NA
4-71388542-A-G p.Gln42Arg missense AMTN 1 82610 1.21051E-5 41305 0 8.25437E-6
4-71388545-A-G p.Gln43Arg missense AMTN 2 82606 2.42113E-5 41303 0 NA
4-71388551-A-G p.Asn45Ser missense AMTN 6754 82346 0.0820198 41173 316 0.158125
4-71388551-A-C p.Asn45Thr missense AMTN 1 82542 1.2115E-5 41271 0 NA
4-71388551-A-T p.Asn45Ile missense AMTN 4 82542 4.84602E-5 41271 0 1.1959E-5
4-71389577-C-T c.139-8C>T splice_region AMTN 1 81926 1.22061E-5 40963 0 NA
4-71389582-C-T c.139-3C>T splice_region AMTN 1 81976 1.21987E-5 40988 0 6.25E-4
4-71389585-G-T p.Val47Phe missense+splice_region AMTN 20 82020 2.43843E-4 41010 0 4.95115E-5
4-71389585-G-A p.Val47Ile missense+splice_region AMTN 1 82020 1.21921E-5 41010 0 8.25191E-6
4-71389587-C-G p.Val47Val splice_region+synonymous AMTN 13 82038 1.58463E-4 41019 0 1.59236E-4
4-71389591-C-G p.Pro49Ala missense AMTN 2 82070 2.43694E-5 41035 0 NA
4-71389594-T-C p.Ser50Pro missense AMTN 914 82022 0.0111434 41011 22 0.020141
4-71389605-G-T p.Leu53Leu synonymous AMTN 1 82020 1.21921E-5 41010 0 3.98391E-6
4-71389645-C-T p.His67Tyr missense AMTN 1 81708 1.22387E-5 40854 0 5.7771E-5
4-71389650-GGTAA-G c.204+1_204+4delGTAA splice_donor AMTN 1 81614 1.22528E-5 40807 0 NA
4-71389653-A-G c.204+3A>G splice_region AMTN 3 81528 3.67972E-5 40764 0 6.25E-4
4-71389657-G-C c.204+7G>C splice_region AMTN 88 81444 0.0010805 40722 1 0.00130598
4-71390582-C-T c.205-7C>T splice_region AMTN 83 83062 9.99254E-4 41531 1 0.00207046
4-71390584-T-G c.205-5T>G splice_region AMTN 1 83072 1.20378E-5 41536 0 NA
4-71390592-A-T p.Asn70Tyr missense AMTN 1 83122 1.20305E-5 41561 0 NA
4-71390597-T-C p.Pro71Pro synonymous AMTN 1 83134 1.20288E-5 41567 0 3.98156E-6
4-71390601-G-T p.Ala73Ser missense AMTN 1 83140 1.20279E-5 41570 0 1.66083E-5
4-71390611-C-T p.Thr76Ile missense AMTN 2 83144 2.40547E-5 41572 0 NA
4-71390613-C-T p.Pro77Ser missense AMTN 1 83142 1.20276E-5 41571 0 NA
4-71390616-G-A p.Gly78Ser missense AMTN 588 83102 0.00707564 41551 3 0.0102525
4-71390628-C-A p.His82Asn missense AMTN 2 83108 2.40651E-5 41554 0 3.3065E-5
4-71390630-C-G p.His82Gln missense AMTN 1 83096 1.20343E-5 41548 0 NA
4-71390634-T-C p.Leu84Leu synonymous AMTN 10 83046 1.20415E-4 41523 0 0.00151057
4-71390635-T-G p.Leu84Trp missense AMTN 1 83054 1.20404E-5 41527 0 1.65297E-5
4-71390638-C-A p.Thr85Asn missense AMTN 8 83056 9.63206E-5 41528 0 6.36902E-5
4-71390647-G-A p.Gly88Glu missense AMTN 206 83008 0.00248169 41504 1 0.00251762
4-71390655-G-A p.Val91Ile missense AMTN 1 83006 1.20473E-5 41503 0 3.98197E-6
4-71390661-C-T p.Gln93* stop_gained AMTN 1 82984 1.20505E-5 41492 0 NA
4-71390676-C-G p.His98Asp missense+splice_region AMTN 1 82916 1.20604E-5 41458 0 NA
4-71390676-C-T p.His98Tyr missense+splice_region AMTN 2 82916 2.41208E-5 41458 0 2.48353E-5
4-71390683-G-A c.294+5G>A splice_region AMTN 1 82852 1.20697E-5 41426 0 NA
4-71390685-T-A c.294+7T>A splice_region AMTN 1 82844 1.20709E-5 41422 0 NA
4-71394440-G-A p.Val99Met missense+splice_region AMTN 3 82432 3.63936E-5 41216 0 3.1904E-5
4-71394469-A-G p.Gly108Gly synonymous AMTN 1 82432 1.21312E-5 41216 0 NA
4-71394470-G-A p.Ala109Thr missense AMTN 55 82436 6.67184E-4 41218 0 0.005
4-71394476-G-A c.330+1G>A splice_donor AMTN 1 82366 1.21409E-5 41183 0 NA
4-71394893-G-T c.331-8G>T splice_region AMTN 1 80638 1.24011E-5 40319 0 NA
4-71394898-T-C c.331-3T>C splice_region AMTN 1 80690 1.23931E-5 40345 0 1.4425E-5
4-71394902-G-A p.Gly111Asp missense+splice_region AMTN 2 80658 2.47961E-5 40329 0 NA
4-71394906-T-G p.Thr112Thr synonymous AMTN 6 80696 7.43531E-5 40348 0 8.65426E-5
4-71394906-T-C p.Thr112Thr synonymous AMTN 1 80696 1.23922E-5 40348 0 NA
4-71394910-C-T p.Leu114Leu synonymous AMTN 1 80686 1.23937E-5 40343 0 1.44705E-5
4-71394926-T-C p.Leu119Ser missense+splice_region AMTN 1 80184 1.24713E-5 40092 0 4.68853E-5
4-71394929-TA-T c.357+3delA splice_region AMTN 2 80148 2.49538E-5 40074 0 1.50577E-4
4-71394929-T-TA c.357+2_357+3insA splice_region AMTN 13 80144 1.62208E-4 40072 0 4.29266E-4
4-71396769-C-T p.Thr124Met missense AMTN 1 82932 1.20581E-5 41466 0 3.35745E-5
4-71396770-G-A p.Thr124Thr synonymous AMTN 21 83016 2.52963E-4 41508 0 2.86752E-4
4-71396774-C-A p.Leu126Ile missense AMTN 2 83064 2.40778E-5 41532 0 NA
4-71396783-C-T p.His129Tyr missense AMTN 12 83114 1.4438E-4 41557 0 0.0020141
4-71396784-A-G p.His129Arg missense AMTN 1 83128 1.20296E-5 41564 0 3.59015E-5
4-71396796-C-T p.Pro133Leu missense AMTN 2 83086 2.40714E-5 41543 0 6.37105E-5
4-71396797-G-A p.Pro133Pro synonymous AMTN 1 83070 1.2038E-5 41535 0 1.19735E-5
4-71396802-G-T p.Gly135Val missense AMTN 1 83056 1.20401E-5 41528 0 8.28459E-6
4-71396804-A-T p.Ile136Phe missense AMTN 2 83050 2.40819E-5 41525 0 NA
4-71396828-G-T p.Ala144Ser missense AMTN 1 82850 1.207E-5 41425 0 NA
4-71396829-C-G p.Ala144Gly missense AMTN 2 82852 2.41394E-5 41426 0 8.27499E-6
4-71396835-C-A p.Pro146Gln missense AMTN 2 82806 2.41528E-5 41403 0 NA
4-71396838-A-C p.Asp147Ala missense AMTN 5 82780 6.04011E-5 41390 0 2.48049E-5
4-71396855-C-T p.Leu153Phe missense AMTN 1 82718 1.20893E-5 41359 0 8.26378E-6
4-71396861-G-A p.Ala155Thr missense AMTN 2 82710 2.41809E-5 41355 0 6.37227E-5
4-71396865-G-A p.Gly156Glu missense AMTN 2 82670 2.41926E-5 41335 0 NA
4-71396899-C-A p.Thr167Thr synonymous AMTN 2 82616 2.42084E-5 41308 0 NA
4-71396907-G-A p.Gly170Asp missense AMTN 1 82592 1.21077E-5 41296 0 3.98874E-6
4-71396908-C-T p.Gly170Gly synonymous AMTN 3 82588 3.63249E-5 41294 0 3.98912E-6
4-71396909-C-T p.Arg171Cys missense AMTN 2 82582 2.42184E-5 41291 0 5.98449E-5
4-71396910-G-A p.Arg171His missense AMTN 25 82564 3.02795E-4 41282 0 0.00151362
4-71396922-C-T p.Pro175Leu missense AMTN 1 82608 1.21054E-5 41304 0 NA
4-71396925-G-T p.Ser176Ile missense AMTN 1 82586 1.21086E-5 41293 0 NA
4-71396928-G-T p.Gly177Val missense AMTN 530 82540 0.00642113 41270 16 0.0149401
4-71396938-C-T p.Asp180Asp synonymous AMTN 2 82466 2.42524E-5 41233 0 4.12957E-5
4-71396952-C-T p.Thr185Ile missense AMTN 2 82246 2.43173E-5 41123 0 NA
4-71396960-G-A p.Ala188Thr missense AMTN 1 82176 1.2169E-5 41088 0 NA
4-71396962-AG-A p.Gly189fs frameshift AMTN 1 82178 1.21687E-5 41089 0 NA
4-71396964-G-T p.Gly189Val missense AMTN 1 82100 1.21803E-5 41050 0 NA
4-71396974-G-A p.Arg192Arg synonymous AMTN 1 81916 1.22076E-5 40958 0 8.01321E-6
4-71396976-G-A p.Ser193Asn missense AMTN 1 81806 1.2224E-5 40903 0 NA
4-71396979-C-T p.Thr194Ile missense AMTN 1 81718 1.22372E-5 40859 0 8.26788E-6
4-71396987-A-G p.Ile197Val missense AMTN 2 81458 2.45525E-5 40729 0 3.18471E-5
4-71396987-ATC-GTT p.Ile197Val missense AMTN 2 81458 2.45525E-5 40729 0 NA
4-71396989-C-T p.Ile197Ile synonymous AMTN 28507 78140 0.36482 39070 5062 0.380629
4-71396997-C-T p.Ala200Val missense AMTN 37 81178 4.55789E-4 40589 0 0.0019631
4-71397005-G-T p.Glu203* stop_gained AMTN 1 80976 1.23493E-5 40488 0 NA
4-71398164-T-C c.620-8T>C splice_region AMTN 1 81618 1.22522E-5 40809 0 NA
4-71398166-T-A c.620-6T>A splice_region AMTN 35 81668 4.28564E-4 40834 0 2.23914E-4
4-71398170-AG-A c.620-1delG splice_acceptor AMTN 1 81758 1.22312E-5 40879 0 NA