Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
13-31309759-T-C p.Val6Ala missense ALOX5AP 1 83192 1.20204E-5 41596 0 NA
13-31309770-G-T p.Val10Phe missense ALOX5AP 1 83202 1.20189E-5 41601 0 NA
13-31309779-G-A p.Ala13Thr missense ALOX5AP 2 83192 2.40408E-5 41596 0 5.03525E-4
13-31309784-C-T p.Ile14Ile synonymous ALOX5AP 136 83192 0.00163477 41596 1 0.00471909
13-31309785-G-A p.Val15Ile missense ALOX5AP 3 83194 3.60603E-5 41597 0 6.25E-4
13-31309799-C-T p.Ser19Ser synonymous ALOX5AP 16 83148 1.92428E-4 41574 0 0.00125
13-31309800-G-A p.Val20Met missense ALOX5AP 1 83158 1.20253E-5 41579 0 2.47791E-5
13-31309814-T-TTTCTTTGCCCATA c.70+2_70+3insTTCTTTGCCCATA splice_region ALOX5AP 2 83090 2.40703E-5 41545 1 NA
13-31309817-G-A c.70+5G>A splice_region ALOX5AP 6 83042 7.22526E-5 41521 0 NA
13-31318214-G-A p.Val30Met missense ALOX5AP 1 83288 1.20065E-5 41644 0 NA
13-31318222-C-T p.His32His synonymous ALOX5AP 12 83304 1.44051E-4 41652 0 5.03525E-4
13-31318223-G-C p.Glu33Gln missense ALOX5AP 3 83310 3.60101E-5 41655 0 9.5511E-5
13-31318223-G-A p.Glu33Lys missense ALOX5AP 1 83310 1.20034E-5 41655 0 3.1837E-5
13-31318231-G-A p.Arg35Arg synonymous ALOX5AP 1 83326 1.20011E-5 41663 0 3.1841E-5
13-31318246-G-A p.Arg40Arg synonymous ALOX5AP 1 83342 1.19988E-5 41671 0 NA
13-31318249-C-T p.Ser41Ser synonymous ALOX5AP 583 83332 0.00699611 41666 4 0.010574
13-31318250-T-G p.Phe42Val missense ALOX5AP 1 83340 1.1999E-5 41670 0 NA
13-31318261-C-T p.Thr45Thr synonymous ALOX5AP 4 83328 4.80031E-5 41664 0 4.9487E-5
13-31318262-G-A p.Gly46Arg missense ALOX5AP 2 83336 2.39992E-5 41668 0 3.97747E-6
13-31318280-C-A p.Arg52Arg synonymous ALOX5AP 7 83300 8.40336E-5 41650 0 9.55597E-5
13-31318280-C-T p.Arg52Trp missense ALOX5AP 3 83300 3.60144E-5 41650 0 1.19368E-5
13-31318290-C-A p.Thr55Asn missense ALOX5AP 1 83278 1.2008E-5 41639 0 2.48077E-5
13-31318296-A-ATTCCTGCTGCGTTTGCTGGACTGATGTACTTGTTT c.170_170+1insTTCCTGCTGCGTTTGCTGGACTGATGTACTTGTTT splice_donor ALOX5AP 3 83232 3.60438E-5 41616 0 NA
13-31318302-T-G c.170+6T>G splice_region ALOX5AP 1 83210 1.20178E-5 41605 0 NA
13-31326188-G-A c.171-1G>A splice_acceptor ALOX5AP 1 83254 1.20114E-5 41627 0 NA
13-31326222-C-T p.Leu68Leu synonymous ALOX5AP 3 83312 3.60092E-5 41656 0 1.59077E-5
13-31326223-G-A p.Ala69Thr missense ALOX5AP 1 83304 1.20042E-5 41652 0 3.29544E-5
13-31326239-C-T p.Ala74Val missense ALOX5AP 3 83302 3.60135E-5 41651 0 9.55536E-5
13-31326240-G-A p.Ala74Ala synonymous ALOX5AP 1 83288 1.20065E-5 41644 0 3.29533E-5
13-31330074-C-T c.242-7C>T splice_region ALOX5AP 1 83350 1.19976E-5 41675 0 NA
13-31330087-C-A p.Ala83Asp missense ALOX5AP 1 83382 1.1993E-5 41691 0 NA
13-31330090-C-T p.Ala84Val missense ALOX5AP 2 83376 2.39877E-5 41688 0 1.19307E-5
13-31330097-T-G p.Ala86Ala synonymous ALOX5AP 3 83388 3.59764E-5 41694 0 8.2394E-6
13-31330130-C-T p.Tyr97Tyr synonymous ALOX5AP 1 83400 1.19904E-5 41700 0 NA
13-31330139-T-C p.Gly100Gly synonymous ALOX5AP 1 83398 1.19907E-5 41699 0 NA
13-31330161-A-T p.Ser108Cys missense+splice_region ALOX5AP 2 83388 2.39843E-5 41694 0 1.64946E-5
13-31330166-G-A c.323+4G>A splice_region ALOX5AP 3 83374 3.59824E-5 41687 0 6.3635E-5
13-31338081-C-A p.Ser108Arg missense+splice_region ALOX5AP 2 83356 2.39935E-5 41678 0 1.65254E-5
13-31338084-C-A p.Thr109Thr synonymous ALOX5AP 22 83378 2.63859E-4 41689 0 0.00132935
13-31338091-T-C p.Tyr112His missense ALOX5AP 1 83378 1.19936E-5 41689 0 NA
13-31338094-A-T p.Ile113Leu missense ALOX5AP 1 83386 1.19924E-5 41693 0 NA
13-31338106-C-T p.Arg117Cys missense ALOX5AP 1 83390 1.19918E-5 41695 0 2.78887E-5
13-31338109-A-G p.Ile118Val missense ALOX5AP 33 83400 3.95683E-4 41700 0 3.82141E-4
13-31338121-C-A p.Leu122Met missense ALOX5AP 1 83414 1.19884E-5 41707 0 3.29511E-5
13-31338136-G-A p.Val127Ile missense ALOX5AP 3 83416 3.59643E-5 41708 0 8.23723E-5
13-31338136-G-T p.Val127Phe missense ALOX5AP 2 83416 2.39762E-5 41708 0 8.23723E-6
13-31338154-T-C p.Tyr133His missense ALOX5AP 13 83412 1.55853E-4 41706 0 1.9101E-4
13-31338169-T-C p.Phe138Leu missense ALOX5AP 1 83404 1.19898E-5 41702 0 NA
13-31338174-C-T p.Phe139Phe synonymous ALOX5AP 11 83404 1.31888E-4 41702 0 0.00125
13-31338175-G-A p.Gly140Arg missense ALOX5AP 1 83398 1.19907E-5 41699 0 2.47117E-5
13-31338203-C-T p.Thr149Met missense ALOX5AP 7 83372 8.3961E-5 41686 0 1.64826E-4
13-31338204-G-A p.Thr149Thr synonymous ALOX5AP 5 83372 5.99722E-5 41686 0 1.19387E-5
13-31338210-C-T p.Ser151Ser synonymous ALOX5AP 1 83372 1.19944E-5 41686 0 8.2447E-6
13-31338217-A-G p.Ile154Val missense ALOX5AP 1 83362 1.19959E-5 41681 0 8.25219E-6
13-31338225-T-A p.Pro156Pro synonymous ALOX5AP 2 83362 2.39917E-5 41681 0 NA
13-31338231-T-C p.Leu158Leu synonymous ALOX5AP 1 83352 1.19973E-5 41676 0 6.25E-4
13-31338243-A-G p.Ter162Ter stop_retained ALOX5AP 2 83336 2.39992E-5 41668 0 1.59368E-4