Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
20-37209894-A-G p.Met1? start_lost ADIG 6 82418 7.27996E-5 41209 0 0.00151362
20-37209903-C-T p.Pro4Ser missense ADIG 1 82476 1.21247E-5 41238 0 NA
20-37209904-C-T p.Pro4Leu missense ADIG 1 82490 1.21227E-5 41245 0 NA
20-37209913-C-T p.Pro7Leu missense ADIG 2 82528 2.42342E-5 41264 0 6.37105E-5
20-37209914-G-A p.Pro7Pro synonymous ADIG 24 82530 2.90803E-4 41265 0 0.00100705
20-37209923-C-T p.Asn10Asn synonymous ADIG 1 82566 1.21115E-5 41283 0 7.86356E-5
20-37209926-C-G p.Asp11Glu missense ADIG 7 82590 8.4756E-5 41295 0 5.09749E-4
20-37209929-C-CA p.Thr13fs frameshift ADIG 7 82602 8.47437E-5 41301 0 NA
20-37209931-C-A p.Thr13Lys missense ADIG 2 82606 2.42113E-5 41303 0 4.01378E-6
20-37209932-A-G p.Thr13Thr synonymous ADIG 1 82612 1.21048E-5 41306 0 2.00673E-5
20-37209934-TTTC-T p.Ser15del disruptive_inframe_deletion ADIG 2 82614 2.4209E-5 41307 0 4.01297E-6
20-37209963-C-T p.Pro24Ser missense ADIG 5 82672 6.048E-5 41336 0 1.91058E-4
20-37209970-G-A p.Gly26Asp missense ADIG 2 82702 2.41832E-5 41351 0 9.55231E-5
20-37209976-T-C p.Leu28Pro missense ADIG 1 82710 1.20904E-5 41355 0 NA
20-37209978-T-C p.Leu29Leu synonymous ADIG 147 82708 0.00177734 41354 1 0.00420275
20-37209980-G-A p.Leu29Leu synonymous ADIG 1 82710 1.20904E-5 41355 0 NA
20-37209983-A-G p.Leu30Leu synonymous ADIG 1 82708 1.20907E-5 41354 0 8.28157E-6
20-37209984-T-G p.Leu31Val missense ADIG 1 82714 1.20899E-5 41357 0 NA
20-37209984-T-C p.Leu31Leu synonymous ADIG 4 82714 4.83594E-5 41357 0 4.14086E-5
20-37209999-C-T p.Arg36Cys missense ADIG 80 82714 9.67188E-4 41357 0 0.0022927
20-37210025-T-G c.124+8T>G splice_region ADIG 66 82666 7.98394E-4 41333 0 4.225E-4
20-37214074-G-A c.125-4G>A splice_region ADIG 1 53320 1.87547E-5 26660 0 1.59307E-4
20-37214077-G-A c.125-1G>A splice_acceptor ADIG 1 53322 1.8754E-5 26661 0 6.70232E-6
20-37214081-T-C p.Ile43Thr missense ADIG 48 53324 9.00158E-4 26662 0 9.87702E-4
20-37214082-T-C p.Ile43Ile synonymous ADIG 1 53330 1.87512E-5 26665 0 NA
20-37214096-G-C p.Arg48Thr missense ADIG 2 53336 3.74981E-5 26668 0 6.70232E-6
20-37214100-C-T p.Tyr49Tyr synonymous ADIG 13 53340 2.4372E-4 26670 0 3.18613E-4
20-37214105-A-G p.Tyr51Cys missense ADIG 1 53344 1.87463E-5 26672 0 3.18512E-5
20-37214110-G-A p.Ala53Thr missense ADIG 1 53350 1.87441E-5 26675 0 NA
20-37214116-A-AT p.Leu56fs frameshift ADIG 1 53346 1.87455E-5 26673 0 6.70169E-6
20-37214679-G-A p.Glu25Glu synonymous ADIG 4 82518 4.84743E-5 41259 1 6.72269E-5
20-37214681-A-G p.Glu26Gly missense ADIG 3 82536 3.63478E-5 41268 0 NA
20-37214692-A-C p.Ser30Arg missense ADIG 3 82600 3.63196E-5 41300 0 1.43139E-4
20-37214696-T-C p.Val31Ala missense ADIG 1 82602 1.21062E-5 41301 0 NA
20-37214697-G-A p.Val31Val synonymous ADIG 745 82562 0.00902352 41281 16 0.0201859
20-37214702-TG-T p.Asp34fs frameshift ADIG 1 82604 1.2106E-5 41302 0 NA
20-37214712-G-A p.Glu36Glu synonymous ADIG 1 82562 1.21121E-5 41281 0 NA
20-37214718-G-C p.Trp38Cys missense ADIG 1 82560 1.21124E-5 41280 0 NA
20-37214721-C-A p.Ser39Arg missense ADIG 3 82552 3.63407E-5 41276 0 1.29786E-5
20-37214737-T-G p.Phe45Val missense ADIG 2 82450 2.42571E-5 41225 0 3.19081E-5
20-37214750-G-C p.Gly49Ala missense ADIG 2 82434 2.42618E-5 41217 0 NA
20-37214755-C-T p.Leu51Phe missense ADIG 1 82382 1.21386E-5 41191 0 NA
20-37214760-C-T p.His52His synonymous ADIG 34 82336 4.12942E-4 41168 0 0.00302419
20-37214772-G-T p.Lys56Asn missense ADIG 35 82246 4.25553E-4 41123 0 0.00449245
20-37214774-AGAGGCCCTGCTG-A p.Arg58fs frameshift ADIG 3 82232 3.64821E-5 41116 0 NA
20-37214777-G-A p.Arg58Lys missense ADIG 6 82198 7.29945E-5 41099 0 1.27478E-4
20-37214778-G-T p.Arg58Ser missense ADIG 3 82170 3.65097E-5 41085 0 4.67639E-6
20-37214781-C-T p.Pro59Pro synonymous ADIG 5 82178 6.08435E-5 41089 0 6.25E-4
20-37216736-G-T c.183-8G>T splice_region ADIG 1 56440 1.77179E-5 28220 0 NA
20-37216737-T-C c.183-7T>C splice_region ADIG 3 56436 5.31576E-5 28218 0 1.59337E-4
20-37216764-C-T p.Ala68Val missense ADIG 3 56474 5.31218E-5 28237 0 3.24945E-5
20-37216803-G-T p.Cys81Phe missense ADIG 1 56246 1.7779E-5 28123 0 0.0394363
20-37216804-C-A p.Cys81* stop_gained ADIG 1 56276 1.77696E-5 28138 0 1.34993E-5
20-37216822-T-G p.Thr87Thr synonymous ADIG 1 56330 1.77525E-5 28165 0 6.52239E-6
20-37216823-T-C p.Leu88Leu synonymous ADIG 16 56336 2.8401E-4 28168 0 6.05983E-4
20-37216835-G-A p.Val92Met missense ADIG 1 56354 1.7745E-5 28177 0 2.92022E-4
20-37216846-G-A p.Trp95* stop_gained ADIG 2 56356 3.54887E-5 28178 0 1.30888E-5
20-37216855-A-G p.Gln98Gln synonymous ADIG 2 56360 3.54862E-5 28180 0 2.096E-4
20-37216860-TCTC-T p.Ser102del disruptive_inframe_deletion ADIG 1 56346 1.77475E-5 28173 0 5.91086E-5
20-37216875-G-T p.Arg105Leu missense ADIG 108 56340 0.00191693 28170 0 0.00315649
20-37216875-G-A p.Arg105Gln missense ADIG 3 56340 5.32481E-5 28170 0 6.37674E-5
20-37216878-A-G p.His106Arg missense ADIG 2 56342 3.54975E-5 28171 0 NA
20-37216881-T-G p.Val107Gly missense ADIG 1 56334 1.77513E-5 28167 0 NA
20-37216927-C-T p.Thr122Thr synonymous ADIG 14 56196 2.49128E-4 28098 0 4.62455E-5
20-37216947-G-C p.Arg129Pro missense ADIG 1 56012 1.78533E-5 28006 0 NA
20-37216947-G-A p.Arg129His missense ADIG 1 56012 1.78533E-5 28006 0 3.18674E-5
20-37216960-A-G p.Gly133Gly synonymous ADIG 1 55978 1.78642E-5 27989 0 6.65876E-6
20-37216972-C-T p.Ser137Ser synonymous ADIG 2 55862 3.58025E-5 27931 0 6.68494E-6
20-37216979-C-T p.Gln140* stop_gained ADIG 2 55798 3.58436E-5 27899 0 6.98812E-5
20-37216994-A-G p.Lys145Glu missense ADIG 2 55472 3.60542E-5 27736 0 6.87134E-6
20-37216995-A-G p.Lys145Arg missense ADIG 1 55448 1.80349E-5 27724 0 NA
20-37217004-A-G p.Asn148Ser missense ADIG 1 55114 1.81442E-5 27557 0 NA
20-37217014-G-A p.Gln151Gln synonymous ADIG 1 54558 1.83291E-5 27279 0 NA
20-37217016-G-T p.Arg152Met missense ADIG 1 54456 1.83634E-5 27228 0 NA
20-37217018-G-A p.Gly153Ser missense ADIG 2 54280 3.6846E-5 27140 0 0.0025
20-37217023-T-C p.Leu154Leu synonymous ADIG 1 53884 1.85584E-5 26942 0 NA
20-37217039-C-A p.Arg160Arg synonymous ADIG 2 51568 3.87837E-5 25784 0 NA
20-37217040-G-A p.Arg160Gln missense ADIG 17 51340 3.31126E-4 25670 0 9.9681E-4
20-37217055-A-G p.His165Arg missense ADIG 1 48062 2.08065E-5 24031 0 6.37146E-5
20-37217071-G-A p.Arg170Arg synonymous ADIG 1 42750 2.33918E-5 21375 0 NA
20-37217080-A-G p.Pro173Pro synonymous ADIG 35 38880 9.00206E-4 19440 0 0.00175249
20-37217083-C-A p.Tyr174* stop_gained ADIG 1 37290 2.68168E-5 18645 0 NA
20-37217084-C-A p.Pro175Thr missense ADIG 1 36710 2.72405E-5 18355 0 3.18654E-5
20-37217086-G-A p.Pro175Pro synonymous ADIG 1 35118 2.84754E-5 17559 0 1.40726E-5