Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
16-21245001-C-T c.-58C>T 5_prime_UTR_premature_start_codon_gain ANKS4B 1 82194 1.21663E-5 41097 0 NA
16-21245066-C-A p.Thr3Asn missense ANKS4B 1 83186 1.20213E-5 41593 0 NA
16-21245068-C-T p.Arg4Cys missense ANKS4B 1 83198 1.20195E-5 41599 0 8.32251E-6
16-21245069-G-A p.Arg4His missense ANKS4B 2 83192 2.40408E-5 41596 0 6.25E-4
16-21245072-A-G p.Tyr5Cys missense ANKS4B 2 83212 2.4035E-5 41606 0 4.41874E-5
16-21245074-C-T p.His6Tyr missense ANKS4B 2 83216 2.40338E-5 41608 0 9.55292E-5
16-21245083-G-A p.Ala9Thr missense ANKS4B 3 83218 3.60499E-5 41609 0 8.29311E-6
16-21245085-T-C p.Ala9Ala synonymous ANKS4B 2 83218 2.40333E-5 41609 0 8.29215E-6
16-21245098-C-T p.Leu14Leu synonymous ANKS4B 3 83220 3.6049E-5 41610 0 NA
16-21245101-G-C p.Glu15Gln missense ANKS4B 369 83210 0.00443456 41605 3 0.0067618
16-21245102-A-G p.Glu15Gly missense ANKS4B 4 83220 4.80654E-5 41610 0 5.80046E-5
16-21245115-G-A p.Glu19Glu synonymous ANKS4B 13 83196 1.56258E-4 41598 0 3.1837E-4
16-21245125-C-A p.Arg23Arg synonymous ANKS4B 4 83172 4.80931E-5 41586 0 3.18471E-5
16-21245141-C-T p.Ser28Leu missense ANKS4B 2 83170 2.40471E-5 41585 0 3.18492E-5
16-21245151-C-T p.Asp31Asp synonymous ANKS4B 3 83172 3.60698E-5 41586 0 6.25E-4
16-21245152-G-A p.Gly32Ser missense ANKS4B 5 83178 6.0112E-5 41589 0 6.25E-4
16-21245156-T-C p.Met33Thr missense ANKS4B 1 83170 1.20236E-5 41585 0 NA
16-21245162-C-T p.Pro35Leu missense ANKS4B 1 83186 1.20213E-5 41593 0 NA
16-21245211-C-T p.Ile51Ile synonymous ANKS4B 4 83154 4.81035E-5 41577 0 1.66514E-5
16-21245219-G-C p.Arg54Thr missense ANKS4B 1 83120 1.20308E-5 41560 0 NA
16-21245222-G-A p.Gly55Glu missense+splice_region ANKS4B 1 83110 1.20322E-5 41555 0 NA
16-21261045-C-T c.165-7C>T splice_region ANKS4B 1 81934 1.22049E-5 40967 0 6.25E-4
16-21261064-T-C p.Asp59Asp synonymous ANKS4B 1 82492 1.21224E-5 41246 0 NA
16-21261067-G-A p.Arg60Arg synonymous ANKS4B 2 82510 2.42395E-5 41255 0 3.35267E-5
16-21261092-C-T p.Leu69Leu synonymous ANKS4B 30 82952 3.61655E-4 41476 0 0.00100705
16-21261099-T-C p.Phe71Ser missense ANKS4B 1 83000 1.20482E-5 41500 0 4.00856E-6
16-21261103-A-G p.Ala72Ala synonymous ANKS4B 1 83042 1.20421E-5 41521 0 1.20256E-5
16-21261105-C-T p.Ala73Val missense ANKS4B 2 83056 2.40801E-5 41528 0 8.29146E-6
16-21261111-A-G p.Asn75Ser missense ANKS4B 1 83132 1.20291E-5 41566 0 1.2024E-5
16-21261120-C-T p.Ala78Val missense ANKS4B 1 83164 1.20244E-5 41582 0 NA
16-21261127-C-T p.Cys80Cys synonymous ANKS4B 2 83188 2.40419E-5 41594 0 4.14147E-5
16-21261128-G-A p.Val81Ile missense ANKS4B 2 83210 2.40356E-5 41605 0 3.18573E-5
16-21261131-T-G p.Ser82Ala missense ANKS4B 2 83228 2.40304E-5 41614 0 9.55597E-5
16-21261145-C-T p.Asn86Asn synonymous ANKS4B 274 83232 0.003292 41616 5 0.00726439
16-21261146-T-G p.Phe87Val missense ANKS4B 1 83242 1.20132E-5 41621 0 NA
16-21261146-T-C p.Phe87Leu missense ANKS4B 1 83242 1.20132E-5 41621 0 4.00821E-6
16-21261157-C-T p.Asn90Asn synonymous ANKS4B 2 83228 2.40304E-5 41614 0 NA
16-21261167-CT-C p.Leu94fs frameshift ANKS4B 1 83204 1.20187E-5 41602 0 3.18593E-5
16-21261171-A-T p.Asp95Val missense ANKS4B 2 83188 2.40419E-5 41594 0 5.03525E-4
16-21261175-T-C p.Asn96Asn synonymous ANKS4B 1 83182 1.20218E-5 41591 0 8.01738E-6
16-21261230-G-A p.Ala115Thr missense ANKS4B 3 82928 3.6176E-5 41464 0 NA
16-21261233-C-T p.Leu116Phe missense ANKS4B 1 82912 1.2061E-5 41456 0 4.01188E-6
16-21261248-G-T p.Ala121Ser missense ANKS4B 1 82808 1.20761E-5 41404 0 8.28432E-6
16-21261251-A-G p.Thr122Ala missense ANKS4B 1 82820 1.20744E-5 41410 0 NA
16-21261259-G-A p.Gln124Gln synonymous ANKS4B 2 82832 2.41453E-5 41416 0 NA
16-21261264-T-A p.Ile126Asn missense ANKS4B 1 82818 1.20747E-5 41409 0 NA
16-21261280-G-C p.Lys131Asn missense ANKS4B 1 82806 1.20764E-5 41403 0 NA
16-21261289-G-C p.Arg134Ser missense ANKS4B 3 82808 3.62284E-5 41404 0 0.00125
16-21261292-G-A p.Leu135Leu synonymous ANKS4B 1 82814 1.20753E-5 41407 0 8.28514E-6
16-21261302-G-A p.Ala139Thr missense ANKS4B 7 82816 8.45247E-5 41408 0 4.01258E-5
16-21261308-A-G p.Lys141Glu missense ANKS4B 3 82844 3.62126E-5 41422 0 4.01178E-6
16-21261309-A-G p.Lys141Arg missense ANKS4B 408 82844 0.00492492 41422 12 0.0109873
16-21261314-G-A p.Ala143Thr missense ANKS4B 12 82848 1.44844E-4 41424 0 1.91058E-4
16-21261319-G-A p.Arg144Arg synonymous ANKS4B 1 82852 1.20697E-5 41426 0 3.18492E-5
16-21261345-T-C p.Leu153Pro missense ANKS4B 13 82992 1.56642E-4 41496 0 9.22287E-5
16-21261349-G-C p.Gln154His missense ANKS4B 1 83028 1.20441E-5 41514 0 3.18492E-5
16-21261350-G-A p.Glu155Lys missense ANKS4B 2 83032 2.40871E-5 41516 0 NA
16-21261377-A-G p.Thr164Ala missense ANKS4B 5 83172 6.01164E-5 41586 0 0.00151057
16-21261386-A-G p.Lys167Glu missense ANKS4B 1 83226 1.20155E-5 41613 0 4.0084E-6
16-21261397-C-T p.Ser170Ser synonymous ANKS4B 1 83234 1.20143E-5 41617 0 3.31241E-5
16-21261398-G-T p.Gly171Trp missense ANKS4B 1 83234 1.20143E-5 41617 0 NA
16-21261401-ACTCT-A p.Ser174fs frameshift ANKS4B 1 83246 1.20126E-5 41623 0 8.28061E-6
16-21261412-T-C p.Ser175Ser synonymous ANKS4B 1 83262 1.20103E-5 41631 0 NA
16-21261419-G-C p.Gly178Arg missense ANKS4B 1 83250 1.2012E-5 41625 0 4.00888E-6
16-21261425-T-C p.Phe180Leu missense ANKS4B 1 83238 1.20137E-5 41619 0 NA
16-21261433-A-G p.Arg182Arg synonymous ANKS4B 1 83216 1.20169E-5 41608 0 NA
16-21261455-G-C p.Ala190Pro missense ANKS4B 2 83102 2.40668E-5 41551 0 7.61926E-5
16-21261456-C-T p.Ala190Val missense ANKS4B 1 83088 1.20354E-5 41544 0 NA
16-21261469-C-A p.Phe194Leu missense ANKS4B 4 83002 4.81916E-5 41501 0 4.01104E-6
16-21261469-C-T p.Phe194Phe synonymous ANKS4B 1 83002 1.20479E-5 41501 0 6.36983E-5
16-21261470-G-A p.Gly195Arg missense ANKS4B 1 82990 1.20496E-5 41495 0 2.48443E-5
16-21261475-A-G p.Ser196Ser synonymous ANKS4B 1 82950 1.20555E-5 41475 0 NA
16-21261478-A-C p.Leu197Leu synonymous ANKS4B 1 82938 1.20572E-5 41469 0 4.01136E-6
16-21261484-G-A p.Lys199Lys synonymous ANKS4B 2 82888 2.41289E-5 41444 0 2.40711E-5
16-21261496-C-T p.Asp203Asp synonymous ANKS4B 1 82742 1.20858E-5 41371 0 8.28336E-6
16-21261498-C-T p.Thr204Ile missense ANKS4B 1 82718 1.20893E-5 41359 0 1.65678E-5
16-21261509-A-C p.Lys208Gln missense ANKS4B 1 82604 1.2106E-5 41302 0 8.28404E-6
16-21261541-G-A p.Gln218Gln synonymous ANKS4B 1 82328 1.21465E-5 41164 0 NA
16-21261564-G-A p.Gly226Glu missense ANKS4B 2 82324 2.42943E-5 41162 0 NA
16-21261569-A-G p.Arg228Gly missense ANKS4B 211 82352 0.00256217 41176 0 0.0226586
16-21261571-G-A p.Arg228Arg synonymous ANKS4B 1 82382 1.21386E-5 41191 0 NA
16-21261574-C-T p.Asn229Asn synonymous ANKS4B 6 82380 7.28332E-5 41190 0 3.21515E-5
16-21261575-G-A p.Val230Met missense ANKS4B 15 82396 1.82048E-4 41198 0 3.69742E-4
16-21261589-C-T p.Phe234Phe synonymous ANKS4B 2 82454 2.42559E-5 41227 0 4.01865E-6
16-21261591-G-A p.Arg235Lys missense ANKS4B 1 82482 1.21239E-5 41241 0 8.28734E-6
16-21261591-GAGAGGA-G p.Glu238_Glu239del disruptive_inframe_deletion ANKS4B 1 82482 1.21239E-5 41241 0 4.018E-6
16-21261594-A-G p.Glu236Gly missense ANKS4B 1 82494 1.21221E-5 41247 0 NA
16-21261609-C-T p.Ser241Leu missense ANKS4B 6 82552 7.26815E-5 41276 0 3.31521E-5
16-21261610-G-A p.Ser241Ser synonymous ANKS4B 1 82548 1.21142E-5 41274 0 6.36943E-5
16-21261610-G-C p.Ser241Ser synonymous ANKS4B 1 82548 1.21142E-5 41274 0 4.01777E-6
16-21261618-G-A p.Gly244Glu missense ANKS4B 8 82550 9.6911E-5 41275 1 1.84758E-4
16-21261635-C-T p.Leu250Phe missense ANKS4B 3 82632 3.63055E-5 41316 0 NA
16-21261640-G-A p.Gln251Gln synonymous ANKS4B 3 82656 3.6295E-5 41328 0 8.28514E-6
16-21261658-C-T p.Asp257Asp synonymous ANKS4B 4 82672 4.8384E-5 41336 0 1.15982E-4
16-21261659-G-A p.Gly258Ser missense ANKS4B 2 82682 2.41891E-5 41341 0 8.28391E-6
16-21261668-C-T p.His261Tyr missense ANKS4B 2 82722 2.41774E-5 41361 0 8.28363E-6
16-21261685-C-G p.Leu266Leu synonymous ANKS4B 1986 82782 0.0239907 41391 24 0.0200202
16-21261688-T-C p.Asn267Asn synonymous ANKS4B 4 82828 4.82928E-5 41414 0 9.55779E-5
16-21261689-C-A p.Arg268Ser missense ANKS4B 1 82832 1.20726E-5 41416 0 1.27429E-4
16-21261689-C-T p.Arg268Cys missense ANKS4B 1 82832 1.20726E-5 41416 0 6.37146E-5
16-21261690-G-A p.Arg268His missense ANKS4B 2 82836 2.41441E-5 41418 0 2.4853E-5
16-21261715-T-C p.Phe276Phe synonymous ANKS4B 2 82968 2.41057E-5 41484 0 9.55536E-5
16-21261730-A-T p.Ile281Ile synonymous ANKS4B 3 83022 3.6135E-5 41511 0 NA
16-21261733-G-A p.Ser282Ser synonymous ANKS4B 3 83036 3.61289E-5 41518 0 3.31752E-5
16-21261750-C-T p.Ser288Leu missense ANKS4B 1 83114 1.20317E-5 41557 0 NA
16-21261758-A-G p.Lys291Glu missense ANKS4B 1 83162 1.20247E-5 41581 0 3.18512E-5
16-21261765-A-G p.Glu293Gly missense ANKS4B 1 83168 1.20239E-5 41584 0 NA
16-21261787-T-C p.Ser300Ser synonymous ANKS4B 1 83206 1.20184E-5 41603 0 NA
16-21261829-T-C p.Gly314Gly synonymous ANKS4B 5 83210 6.00889E-5 41605 0 0.00151057
16-21261831-C-T p.Ala315Val missense ANKS4B 1 83220 1.20163E-5 41610 0 NA
16-21261850-G-C p.Glu321Asp missense ANKS4B 2 83192 2.40408E-5 41596 0 NA
16-21261856-C-T p.Asn323Asn synonymous ANKS4B 7 83156 8.41791E-5 41578 0 6.25E-4
16-21261857-G-A p.Gly324Ser missense ANKS4B 3 83152 3.60785E-5 41576 0 9.94316E-5
16-21261876-C-T p.Pro330Leu missense ANKS4B 1 83080 1.20366E-5 41540 0 2.4848E-5
16-21261877-G-A p.Pro330Pro synonymous ANKS4B 2 83074 2.40749E-5 41537 0 0.001875
16-21261881-G-A p.Asp332Asn missense ANKS4B 1 83064 1.20389E-5 41532 0 NA
16-21261886-C-T p.Asp333Asp synonymous ANKS4B 2 83012 2.40929E-5 41506 0 3.18593E-5
16-21261908-G-A p.Asp341Asn missense ANKS4B 21 82846 2.53482E-4 41423 0 2.31911E-4
16-21261916-C-T p.Val343Val synonymous ANKS4B 5 82740 6.04303E-5 41370 0 6.37714E-5
16-21261917-G-A p.Asp344Asn missense ANKS4B 4 82742 4.8343E-5 41371 0 2.40908E-5
16-21261924-C-T p.Thr346Met missense ANKS4B 16 82688 1.93498E-4 41344 0 1.91302E-4
16-21261925-G-A p.Thr346Thr synonymous ANKS4B 15 82674 1.81436E-4 41337 0 1.68658E-4
16-21261926-C-T p.Pro347Ser missense ANKS4B 1 82678 1.20951E-5 41339 0 4.01542E-6
16-21261936-T-C p.Val350Ala missense ANKS4B 1 82684 1.20942E-5 41342 0 4.01532E-6
16-21261944-C-T p.Leu353Leu synonymous ANKS4B 1 82668 1.20966E-5 41334 0 3.18552E-5
16-21261960-A-G p.Glu358Gly missense ANKS4B 2 82674 2.41914E-5 41337 0 3.18613E-5
16-21261962-G-T p.Glu359* stop_gained ANKS4B 1 82678 1.20951E-5 41339 0 4.01465E-6
16-21261965-T-C p.Phe360Leu missense ANKS4B 1 82674 1.20957E-5 41337 0 NA
16-21261971-C-G p.Pro362Ala missense ANKS4B 1 82672 1.2096E-5 41336 0 6.63229E-5
16-21261989-C-A p.Gln368Lys missense ANKS4B 1 82650 1.20992E-5 41325 0 3.1839E-5
16-21261993-T-C p.Ile369Thr missense ANKS4B 1 82644 1.21001E-5 41322 0 NA
16-21261997-T-C p.Asp370Asp synonymous ANKS4B 1 82616 1.21042E-5 41308 0 NA
16-21262007-CTG-C p.Leu374fs frameshift ANKS4B 1 82602 1.21062E-5 41301 0 NA
16-21262052-C-G p.Leu389Val missense ANKS4B 1 82022 1.21919E-5 41011 0 9.5511E-5
16-21262099-G-C p.Gln404His missense ANKS4B 1 80202 1.24685E-5 40101 0 NA
16-21262107-A-G p.Gln407Arg missense ANKS4B 16 79996 2.0001E-4 39998 0 3.82239E-4
16-21262116-G-C p.Gly410Ala missense ANKS4B 1 79752 1.25389E-5 39876 0 NA
16-21262123-G-C p.Leu412Leu synonymous ANKS4B 1 79472 1.2583E-5 39736 0 2.67051E-5
16-21262126-C-T p.Val413Val synonymous ANKS4B 2074 79188 0.0261908 39594 41 0.0282983
16-21262130-A-G p.Thr415Ala missense ANKS4B 1 79108 1.26409E-5 39554 0 9.02006E-6
16-21262132-C-T p.Thr415Thr synonymous ANKS4B 41 79096 5.18357E-4 39548 0 3.71403E-4