Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-132319230-T-C c.-9-3T>C splice_region ACKR4 2 81140 2.46488E-5 40570 0 1.41784E-5
3-132319254-C-G p.Gln5Glu missense ACKR4 1 81250 1.23077E-5 40625 0 8.81414E-6
3-132319260-C-A p.Gln7Lys missense ACKR4 1 81260 1.23062E-5 40630 0 NA
3-132319269-GATT-G p.Tyr13del conservative_inframe_deletion ACKR4 1 81276 1.23038E-5 40638 0 NA
3-132319269-G-A p.Asp10Asn missense ACKR4 1 81278 1.23035E-5 40639 0 2.19226E-5
3-132319280-T-C p.Tyr13Tyr synonymous ACKR4 2 81276 2.46075E-5 40638 0 0.001221
3-132319313-C-G p.Tyr24* stop_gained ACKR4 1 81372 1.22892E-5 40686 0 6.25E-4
3-132319319-A-G p.Gln26Gln synonymous ACKR4 6 81384 7.37246E-5 40692 0 6.87085E-5
3-132319322-T-C p.Tyr27Tyr synonymous ACKR4 1 81384 1.22874E-5 40692 0 3.99431E-6
3-132319337-CAAAG-C p.Glu34fs frameshift ACKR4 1 81406 1.22841E-5 40703 0 3.9903E-6
3-132319338-A-G p.Lys33Glu missense ACKR4 1 81408 1.22838E-5 40704 0 NA
3-132319340-A-G p.Lys33Lys synonymous ACKR4 15 81414 1.84244E-4 40707 0 7.6214E-4
3-132319356-T-A p.Phe39Ile missense ACKR4 1 81450 1.22775E-5 40725 0 3.98772E-6
3-132319361-A-C p.Ala40Ala synonymous ACKR4 4338 80870 0.0536416 40435 132 0.0650852
3-132319362-A-G p.Lys41Glu missense ACKR4 2 81482 2.45453E-5 40741 0 NA
3-132319365-GT-G p.Phe43fs frameshift ACKR4 1 81482 1.22726E-5 40741 0 NA
3-132319380-T-C p.Phe47Leu missense ACKR4 8 81488 9.8174E-5 40744 0 6.09013E-4
3-132319391-A-G p.Ile50Met missense ACKR4 2 81480 2.45459E-5 40740 0 NA
3-132319397-C-T p.Phe52Phe synonymous ACKR4 1 81442 1.22787E-5 40721 0 1.5946E-5
3-132319398-G-A p.Val53Ile missense ACKR4 3 81408 3.68514E-5 40704 0 8.25668E-5
3-132319402-T-C p.Ile54Thr missense ACKR4 1 81390 1.22865E-5 40695 0 7.176E-5
3-132319410-G-C p.Ala57Pro missense ACKR4 1 81326 1.22962E-5 40663 0 NA
3-132319421-C-T p.Ser60Ser synonymous ACKR4 1 81188 1.23171E-5 40594 0 NA
3-132319436-T-C p.Ile65Ile synonymous ACKR4 1 80948 1.23536E-5 40474 0 NA
3-132319444-A-G p.Tyr68Cys missense ACKR4 1 80772 1.23805E-5 40386 0 2.50413E-5
3-132319473-G-C p.Val78Leu missense ACKR4 140 79302 0.0017654 39651 1 0.00630493
3-132319499-A-G p.Ala86Ala synonymous ACKR4 2 79580 2.51319E-5 39790 0 8.04771E-6
3-132319508-CCTT-C p.Leu91del disruptive_inframe_deletion ACKR4 2 79780 2.50689E-5 39890 0 6.37471E-5
3-132319520-T-G p.Thr93Thr synonymous ACKR4 1 80046 1.24928E-5 40023 0 6.25E-4
3-132319543-C-T p.Ala101Val missense ACKR4 1 80118 1.24816E-5 40059 0 4.01594E-6
3-132319566-A-C p.Lys109Gln missense ACKR4 2 80522 2.48379E-5 40261 0 NA
3-132319581-A-G p.Ile114Val missense ACKR4 11 81190 1.35485E-4 40595 0 6.37024E-5
3-132319604-A-C p.Leu121Leu synonymous ACKR4 475 80770 0.0058809 40385 3 0.0109911
3-132319607-CTT-C p.Phe123fs frameshift ACKR4 2 81594 2.45116E-5 40797 0 3.98419E-5
3-132319640-C-G p.Ile133Met missense ACKR4 2 81770 2.44588E-5 40885 0 NA
3-132319642-G-A p.Ser134Asn missense ACKR4 1 81768 1.22297E-5 40884 0 NA
3-132319646-A-G p.Ile135Met missense ACKR4 1 81764 1.22303E-5 40882 0 NA
3-132319674-C-T p.Pro145Ser missense ACKR4 2 81726 2.4472E-5 40863 0 2.22902E-4
3-132319682-A-G p.Gln147Gln synonymous ACKR4 1 81694 1.22408E-5 40847 0 3.98337E-6
3-132319690-T-A p.Val150Glu missense ACKR4 48 81326 5.90217E-4 40663 0 0.005
3-132319696-A-T p.Lys152Ile missense ACKR4 2 81550 2.45248E-5 40775 0 6.36821E-5
3-132319697-A-G p.Lys152Lys synonymous ACKR4 177 81228 0.00217905 40614 1 0.00375
3-132319703-C-A p.Cys154* stop_gained ACKR4 1 81434 1.22799E-5 40717 0 NA
3-132319718-C-A p.Phe159Leu missense ACKR4 1 81022 1.23423E-5 40511 0 6.02389E-5
3-132319725-TG-T p.Trp162fs frameshift ACKR4 1 80658 1.2398E-5 40329 0 NA
3-132319737-A-G p.Ile166Val missense ACKR4 2 79476 2.51648E-5 39738 0 6.11247E-4
3-132323959-G-GAGGTA c.*84_*84+4dupGGTAA splice_region ACKR4 3 82948 3.61672E-5 41474 0 3.18431E-5
3-132337811-A-T c.*361A>T splice_region ACKR4 2 44860 4.45831E-5 22430 0 NA