Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
8-117950452-A-T c.-31A>T 5_prime_UTR_premature_start_codon_gain AARD 1 78872 1.26788E-5 39436 0 3.19183E-5
8-117950490-C-T p.Pro3Leu missense AARD 1 79624 1.2559E-5 39812 0 3.68229E-5
8-117950513-G-C p.Glu11Gln missense AARD 1 79776 1.25351E-5 39888 0 3.18532E-5
8-117950516-A-G p.Arg12Gly missense AARD 1 79764 1.2537E-5 39882 0 NA
8-117950517-G-T p.Arg12Ile missense AARD 1 79744 1.25401E-5 39872 0 NA
8-117950524-C-T p.Ser14Ser synonymous AARD 25 79624 3.13976E-4 39812 0 6.25782E-4
8-117950529-G-A p.Gly16Glu missense AARD 1 79550 1.25707E-5 39775 0 1.74663E-5
8-117950538-G-C p.Gly19Ala missense AARD 20 79602 2.5125E-4 39801 0 0.00100806
8-117950546-GGTAGAGC-G p.Arg23fs frameshift AARD 1 79586 1.2565E-5 39793 0 NA
8-117950550-G-C p.Arg23Thr missense AARD 2 79560 2.51383E-5 39780 0 NA
8-117950566-C-T p.Phe28Phe synonymous AARD 101 79618 0.00126856 39809 0 0.00403633
8-117950572-T-G p.Pro30Pro synonymous AARD 3 79576 3.76998E-5 39788 0 6.25E-4
8-117950583-G-C p.Cys34Ser missense AARD 1 79618 1.256E-5 39809 0 NA
8-117950591-T-C p.Phe37Leu missense AARD 1 79676 1.25508E-5 39838 0 NA
8-117950596-G-T p.Gly38Gly synonymous AARD 2 79668 2.51042E-5 39834 0 8.84048E-6
8-117950599-C-T p.Asp39Asp synonymous AARD 7 79658 8.78757E-5 39829 0 3.8236E-4
8-117950610-C-A p.Thr43Lys missense AARD 2 79556 2.51395E-5 39778 0 3.18532E-5
8-117950611-G-A p.Thr43Thr synonymous AARD 6 79538 7.54356E-5 39769 0 1.91058E-4
8-117950611-G-T p.Thr43Thr synonymous AARD 1 79540 1.25723E-5 39770 0 NA
8-117950612-G-C p.Asp44His missense AARD 1 79538 1.25726E-5 39769 0 9.0199E-6
8-117950621-G-A p.Glu47Lys missense AARD 4 79542 5.02879E-5 39771 0 2.74801E-5
8-117950636-G-T p.Ala52Ser missense AARD 1 79196 1.26269E-5 39598 0 2.88151E-5
8-117950641-C-T p.Ser53Ser synonymous AARD 2 79210 2.52493E-5 39605 0 9.79374E-6
8-117950643-C-T p.Pro54Leu missense AARD 2 79230 2.5243E-5 39615 0 9.89081E-6
8-117950644-G-A p.Pro54Pro synonymous AARD 1 79142 1.26355E-5 39571 0 NA
8-117950648-C-G p.Leu56Val missense AARD 3 79102 3.79257E-5 39551 0 1.01922E-5
8-117950651-G-A p.Glu57Lys missense AARD 4 79038 5.06086E-5 39519 0 5.05561E-4
8-117950653-G-A p.Glu57Glu synonymous AARD 1 78990 1.26598E-5 39495 0 1.04515E-5
8-117950657-C-T p.Leu59Phe missense AARD 4 78746 5.07962E-5 39373 0 3.36783E-5
8-117950664-G-A p.Arg61Gln missense AARD 1 78374 1.27593E-5 39187 0 1.14574E-5
8-117950676-G-A p.Arg65His missense AARD 1 77796 1.28541E-5 38898 0 NA
8-117950691-C-T p.Ala70Val missense AARD 1 77244 1.2946E-5 38622 0 9.28841E-6
8-117950692-G-A p.Ala70Ala synonymous AARD 523 77148 0.00677918 38574 5 0.0165115
8-117950707-C-T p.Ile75Ile synonymous AARD 4 76580 5.2233E-5 38290 0 8.26282E-5
8-117950712-G-A p.Arg77Lys missense AARD 4 76180 5.25072E-5 38090 0 3.1715E-4
8-117950720-C-CAGG p.Glu81dup disruptive_inframe_insertion AARD 2 75646 2.64389E-5 37823 0 2.00776E-4
8-117950720-C-CAGGAGG p.Glu81_Ala82insGluGlu disruptive_inframe_insertion AARD 2 75646 2.64389E-5 37823 0 NA
8-117950721-A-AGGAGGCGGCGGC p.Glu81_Ala84dup disruptive_inframe_insertion AARD 2 75624 2.64466E-5 37812 0 5.84918E-6
8-117950724-AGGCGGC-A p.Ala87_Ala88del conservative_inframe_deletion AARD 317 75390 0.0042048 37695 3 0.00776854
8-117950724-A-AGGAGGCGGCGGCGGCGGCGGCGGC p.Glu81_Ala82insGluAlaAlaAlaAlaAlaAlaAla disruptive_inframe_insertion AARD 26 75390 3.44873E-4 37695 0 0.0011509
8-117950724-AGGC-A p.Ala88del conservative_inframe_deletion AARD 18 75120 2.39617E-4 37560 0 0.0479603
8-117950724-A-AGGC p.Ala88dup conservative_inframe_insertion AARD 117 75390 0.00155193 37695 0 0.00262148
8-117950724-A-AGGAGGCGGC p.Glu81_Ala82insGluAlaAla disruptive_inframe_insertion AARD 29 75390 3.84666E-4 37695 0 6.07417E-4
8-117950724-A-AGGAGGCGGCGGCGGCGGCGGCGGCGGCGGC p.Glu81_Ala82insGluAlaAlaAlaAlaAlaAlaAlaAlaAla disruptive_inframe_insertion AARD 16 75384 2.12247E-4 37692 0 6.39386E-5
8-117950724-A-G p.Glu81Gly missense AARD 2 75392 2.6528E-5 37696 0 NA
8-117950724-A-AGGCGGC p.Ala87_Ala88dup conservative_inframe_insertion AARD 7 75392 9.2848E-5 37696 0 8.71314E-5
8-117950724-AGGCGGCGGC-A p.Ala86_Ala88del conservative_inframe_deletion AARD 1 75392 1.3264E-5 37696 0 4.02145E-5
8-117950724-A-AGGCGGCGGC p.Ala86_Ala88dup conservative_inframe_insertion AARD 7 75392 9.2848E-5 37696 0 NA
8-117950724-A-AGGCGGCGGCGGC p.Ala85_Ala88dup conservative_inframe_insertion AARD 2 75392 2.6528E-5 37696 0 NA
8-117950724-A-AGGAGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC p.Glu81_Ala82insGluAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla disruptive_inframe_insertion AARD 1 75392 1.3264E-5 37696 0 NA
8-117950724-A-AGGAGGCGGCGGCGGCGGCGGCGGCGGC p.Glu81_Ala82insGluAlaAlaAlaAlaAlaAlaAlaAla disruptive_inframe_insertion AARD 1 75392 1.3264E-5 37696 0 NA
8-117950724-A-AGGCGGCGGCGGCGGC p.Ala84_Ala88dup conservative_inframe_insertion AARD 2 75392 2.6528E-5 37696 0 NA
8-117950726-G-A p.Ala82Thr missense AARD 1 75082 1.33188E-5 37541 0 6.33312E-4
8-117950727-C-T p.Ala82Val missense AARD 2 74920 2.66951E-5 37460 0 1.60287E-4
8-117950734-G-C p.Ala84Ala synonymous AARD 1 74304 1.34582E-5 37152 0 7.48167E-6
8-117950736-C-G p.Ala85Gly missense AARD 1 74080 1.34989E-5 37040 0 3.79363E-4
8-117950737-G-A p.Ala85Ala synonymous AARD 4 74028 5.40336E-5 37014 0 8.22172E-5
8-117950738-GC-AA p.Ala86Lys missense AARD 351 73922 0.00474825 36961 0 NA
8-117950738-G-A p.Ala86Thr missense AARD 28 73928 3.78747E-4 36964 0 0.0126388
8-117950739-C-A p.Ala86Glu missense AARD 28 73834 3.79229E-4 36917 0 0.0126453
8-117950739-C-CAGAGCTGGACG p.Ala87fs frameshift AARD 1 73834 1.35439E-5 36917 0 NA
8-117950739-C-T p.Ala86Val missense AARD 1 73834 1.35439E-5 36917 0 NA
8-117950743-G-GCA p.Ala88fs frameshift AARD 1 73510 1.36036E-5 36755 0 NA
8-117950745-C-A p.Ala88Glu missense AARD 1 73230 1.36556E-5 36615 0 NA
8-117950748-G-T p.Arg89Leu missense AARD 1 73038 1.36915E-5 36519 0 NA
8-117950749-G-C p.Arg89Arg synonymous AARD 14 72990 1.91807E-4 36495 0 2.12661E-4
8-117950753-G-A p.Glu91Lys missense AARD 1 72670 1.37608E-5 36335 0 NA
8-117950756-C-G p.Gln92Glu missense AARD 2 72380 2.76319E-5 36190 0 NA
8-117950757-A-G p.Gln92Arg missense AARD 1 72310 1.38293E-5 36155 0 NA
8-117950758-G-T p.Gln92His missense AARD 3209 71852 0.0446612 35926 43 0.0611709
8-117950762-T-G p.Trp94Gly missense AARD 1 71712 1.39447E-5 35856 0 6.37999E-5
8-117950767-G-C p.Thr95Thr synonymous AARD 2 70888 2.82135E-5 35444 0 1.79404E-4
8-117950768-G-C p.Gly96Arg missense AARD 18070 65916 0.274137 32958 1737 0.389915
8-117950768-GGC-CGT p.Gly96Arg missense AARD 1 70700 1.41443E-5 35350 0 NA
8-117950774-G-A p.Glu98Lys missense AARD 4 69934 5.71968E-5 34967 0 1.51455E-5
8-117950789-A-G p.Arg103Gly missense AARD 1 67356 1.48465E-5 33678 0 NA
8-117950796-G-C p.Arg105Pro missense AARD 1 65482 1.52714E-5 32741 0 NA
8-117950813-G-C c.324+7G>C splice_region AARD 4 60594 6.60131E-5 30297 0 1.73913E-4
8-117950924-G-A n.135+5G>A splice_region AARD 2 31952 6.25939E-5 15976 0 3.18959E-5
8-117954790-C-G c.325-7C>G splice_region AARD 1 82752 1.20843E-5 41376 0 6.40164E-5
8-117954800-G-A p.Glu110Lys missense AARD 24 82964 2.89282E-4 41482 0 1.32458E-4
8-117954806-C-T p.His112Tyr missense AARD 1 83040 1.20424E-5 41520 0 NA
8-117954810-T-C p.Phe113Ser missense AARD 208 83098 0.00250307 41549 5 0.00865855
8-117954812-C-T p.Gln114* stop_gained AARD 48 83098 5.77631E-4 41549 0 1.67816E-4
8-117954824-C-G p.Leu118Val missense AARD 2 83178 2.40448E-5 41589 0 NA
8-117954826-G-A p.Leu118Leu synonymous AARD 1 83216 1.20169E-5 41608 0 NA
8-117954852-T-A p.Met127Lys missense AARD 1 83272 1.20088E-5 41636 0 NA
8-117954860-C-A p.Gln130Lys missense AARD 3 83268 3.60282E-5 41634 0 1.91804E-4
8-117954874-G-A p.Lys134Lys synonymous AARD 10 83272 1.20088E-4 41636 0 3.18796E-5
8-117954895-A-C p.Thr141Thr synonymous AARD 4 83252 4.80469E-5 41626 0 1.33063E-4
8-117954895-A-T p.Thr141Thr synonymous AARD 2 83252 2.40234E-5 41626 0 8.31642E-6
8-117954896-T-G p.Ser142Ala missense AARD 2 83248 2.40246E-5 41624 0 NA
8-117954904-C-T p.Ser144Ser synonymous AARD 2 83238 2.40275E-5 41619 0 2.49646E-5
8-117954906-A-G p.Gln145Arg missense AARD 2 83246 2.40252E-5 41623 0 4.38066E-5
8-117954913-A-G p.Pro147Pro synonymous AARD 1 83224 1.20158E-5 41612 0 NA
8-117954914-A-G p.Lys148Glu missense AARD 3 83214 3.60516E-5 41607 0 NA
8-117954922-T-A p.Asp150Glu missense AARD 5 83200 6.00962E-5 41600 0 6.37633E-5
8-117954928-G-A p.Ala152Ala synonymous AARD 10 83152 1.20262E-4 41576 0 3.33934E-5
8-117954933-C-T p.Pro154Leu missense AARD 3 83114 3.6095E-5 41557 0 3.59514E-5
8-117954934-G-A p.Pro154Pro synonymous AARD 4 83106 4.81313E-5 41553 0 1.35891E-4
8-117954935-GA-G p.Glu155fs frameshift AARD 90 83100 0.00108303 41550 2 0.0015121