Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-230838890-T-C p.Ala485Ala synonymous AGT 3 83200 3.60577E-5 41600 0 8.25137E-6
1-230838903-G-A p.Pro481Leu missense AGT 41 83258 4.92445E-4 41629 0 0.00124196
1-230838910-C-T p.Ala479Thr missense AGT 1 83260 1.20106E-5 41630 0 3.18552E-5
1-230838913-C-T p.Val478Met missense AGT 4 83286 4.80273E-5 41643 0 2.38588E-5
1-230838914-G-A p.Arg477Arg synonymous AGT 1 83286 1.20068E-5 41643 0 2.7835E-5
1-230838915-C-T p.Arg477His missense AGT 4 83282 4.80296E-5 41641 0 7.55533E-5
1-230838916-G-A p.Arg477Cys missense AGT 1 83286 1.20068E-5 41643 0 0.00100705
1-230838926-G-A p.His473His synonymous AGT 1 83318 1.20022E-5 41659 0 NA
1-230838941-G-A p.Ser468Ser synonymous AGT 3 83330 3.60014E-5 41665 0 6.25E-4
1-230838950-A-G p.Tyr465Tyr synonymous AGT 5 83360 5.99808E-5 41680 0 9.55597E-5
1-230838952-AC-A p.Tyr465fs frameshift AGT 1 83368 1.1995E-5 41684 0 NA
1-230838969-G-T p.Pro459Gln missense AGT 2 83374 2.39883E-5 41687 0 3.9764E-6
1-230838972-C-T p.Arg458His missense AGT 4 83372 4.79777E-5 41686 0 8.23642E-6
1-230838973-G-A p.Arg458Cys missense AGT 30 83370 3.59842E-4 41685 1 0.00151057
1-230838996-T-A p.Glu450Val missense AGT 1 83374 1.19941E-5 41687 0 NA
1-230839000-G-A p.Pro449Ser missense AGT 8 83376 9.59509E-5 41688 0 1.91192E-4
1-230839005-T-C p.Asn447Ser missense AGT 1 83376 1.19939E-5 41688 0 8.23642E-6
1-230839009-G-C p.Leu446Val missense AGT 2 83372 2.39889E-5 41686 0 NA
1-230839019-A-G p.Ser442Ser synonymous AGT 1 83366 1.19953E-5 41683 0 NA
1-230839020-G-A p.Ser442Phe missense AGT 48 83362 5.75802E-4 41681 0 0.00162482
1-230839039-C-T p.Glu436Lys missense AGT 1 83304 1.20042E-5 41652 0 NA
1-230839043-C-T p.Ala434Ala synonymous AGT 2 83286 2.40136E-5 41643 0 1.27559E-4
1-230839044-G-A p.Ala434Val missense AGT 24 83256 2.88268E-4 41628 0 4.46059E-4
1-230839054-C-A p.Glu431* stop_gained AGT 2 83176 2.40454E-5 41588 0 8.24266E-6
1-230839054-C-CA p.Glu431fs frameshift AGT 3 83174 3.6069E-5 41587 0 2.4728E-5
1-230839054-CAA-C p.Phe430fs frameshift AGT 1 83176 1.20227E-5 41588 0 NA
1-230839060-A-C p.Phe429Val missense AGT 1 83192 1.20204E-5 41596 0 NA
1-230839062-A-G p.Ile428Thr missense AGT 1 83188 1.2021E-5 41594 0 NA
1-230839065-C-A p.Ser427Ile missense AGT 1 83146 1.2027E-5 41573 0 NA
1-230839067-G-A p.Asn426Asn synonymous AGT 7 83144 8.41913E-5 41572 0 3.18715E-5
1-230839071-A-G p.Leu425Pro missense AGT 1 83086 1.20357E-5 41543 0 NA
1-230839938-C-A c.1269+1G>T splice_donor AGT 2 83086 2.40714E-5 41543 0 NA
1-230839938-C-T c.1269+1G>A splice_donor AGT 1 83086 1.20357E-5 41543 0 NA
1-230839944-C-A p.Gly422Trp missense AGT 2 83134 2.40575E-5 41567 0 NA
1-230839945-C-A p.Val421Val synonymous AGT 1 83132 1.20291E-5 41566 0 NA
1-230839947-C-T p.Val421Met missense AGT 4 83140 4.81116E-5 41570 0 6.3678E-5
1-230839956-G-A p.Arg418Cys missense AGT 1 83140 1.20279E-5 41570 0 5.03525E-4
1-230839974-G-T p.Gln412Lys missense AGT 5 83162 6.01236E-5 41581 0 7.95317E-5
1-230839975-C-A p.Leu411Leu synonymous AGT 28 83164 3.36684E-4 41582 0 1.55086E-4
1-230839977-G-C p.Leu411Val missense AGT 1 83162 1.20247E-5 41581 0 6.36862E-5
1-230839980-T-A p.Asn410Tyr missense AGT 2 83156 2.40512E-5 41578 0 NA
1-230839981-C-T p.Leu409Leu synonymous AGT 1 83158 1.20253E-5 41579 0 3.18451E-5
1-230839983-G-T p.Leu409Met missense AGT 1 83156 1.20256E-5 41578 0 NA
1-230839986-C-T p.Glu408Lys missense AGT 1 83124 1.20302E-5 41562 0 3.97655E-6
1-230839986-C-G p.Glu408Gln missense AGT 2 83124 2.40604E-5 41562 0 NA
1-230839987-G-A p.Thr407Thr synonymous AGT 5 83132 6.01453E-5 41566 0 5.03525E-4
1-230839998-T-TGGC p.Ala403dup conservative_inframe_insertion AGT 6 83100 7.22022E-5 41550 0 2.86624E-4
1-230840001-C-T p.Ala403Thr missense AGT 2 83062 2.40784E-5 41531 0 4.77274E-5
1-230840002-G-A p.Pro402Pro synonymous AGT 3 83054 3.61211E-5 41527 0 3.18512E-5
1-230840019-C-T p.Ala397Thr missense AGT 3 82838 3.62153E-5 41419 0 6.36466E-5
1-230840025-G-A p.Leu395Leu synonymous AGT 2 82820 2.41488E-5 41410 0 NA
1-230840034-G-T p.Leu392Met missense AGT 126 82768 0.00152233 41384 0 0.001875
1-230840050-C-T p.Leu386Leu synonymous AGT 1 82530 1.21168E-5 41265 0 NA
1-230840054-A-G p.Val385Ala missense AGT 65 82474 7.88127E-4 41237 0 0.00165626
1-230840059-T-C p.Gln383Gln synonymous AGT 2 82412 2.42683E-5 41206 0 7.95798E-6
1-230840064-G-C p.Pro382Ala missense AGT 1 82274 1.21545E-5 41137 0 1.66417E-5
1-230840066-A-C p.Met381Arg missense AGT 1 82202 1.21652E-5 41101 0 8.3239E-6
1-230840073-G-A p.Leu379Leu synonymous AGT 4 82066 4.87413E-5 41033 0 NA
1-230840082-T-A p.Thr376Ser missense+splice_region AGT 1 81750 1.22324E-5 40875 0 3.98375E-6
1-230840083-C-G p.Arg375Arg splice_region+synonymous AGT 1 81700 1.22399E-5 40850 0 NA
1-230841671-G-A c.1124+8C>T splice_region AGT 12 82228 1.45936E-4 41114 0 2.23015E-4
1-230841679-C-T p.Arg375Gln missense+splice_region AGT 7 82582 8.47642E-5 41291 0 4.99243E-5
1-230841679-C-A p.Arg375Leu missense+splice_region AGT 2 82584 2.42178E-5 41292 0 7.98569E-6
1-230841680-G-A p.Arg375Trp missense+splice_region AGT 8 82634 9.68125E-5 41317 0 1.59266E-4
1-230841685-G-A p.Ser373Phe missense AGT 3 82796 3.62336E-5 41398 0 NA
1-230841687-T-C p.Leu372Leu synonymous AGT 71706 76936 0.932021 38468 33440 0.964375
1-230841704-T-C p.Asn367Asp missense AGT 1 83054 1.20404E-5 41527 0 NA
1-230841707-G-A p.Leu366Phe missense AGT 2 83104 2.40662E-5 41552 0 3.97966E-6
1-230841729-A-G p.Gly358Gly synonymous AGT 2 83220 2.40327E-5 41610 0 NA
1-230841743-C-T p.Asp354Asn missense AGT 3 83274 3.60256E-5 41637 0 7.95279E-6
1-230841744-C-T p.Leu353Leu synonymous AGT 1 83280 1.20077E-5 41640 0 NA
1-230841749-C-T p.Asp352Asn missense AGT 35 83280 4.20269E-4 41640 0 0.00100705
1-230841759-G-A p.His348His synonymous AGT 6 83282 7.20444E-5 41641 0 4.11991E-5
1-230841765-C-A p.Gln346His missense AGT 1 83266 1.20097E-5 41633 0 3.18593E-5
1-230841771-C-T p.Leu344Leu synonymous AGT 2 83274 2.40171E-5 41637 0 1.64818E-5
1-230841780-G-A p.Cys341Cys synonymous AGT 135 83238 0.00162186 41619 1 0.00417463
1-230841784-G-C p.Ala340Gly missense AGT 1 83224 1.20158E-5 41612 0 NA
1-230841787-C-T p.Ser339Asn missense AGT 4 83218 4.80665E-5 41609 0 5.03525E-4
1-230841800-G-A p.Pro335Ser missense AGT 2 83210 2.40356E-5 41605 0 8.2428E-6
1-230841803-C-T p.Val334Met missense AGT 1 83194 1.20201E-5 41597 0 NA
1-230841814-GAGA-G p.Phe329del disruptive_inframe_deletion AGT 1 83160 1.2025E-5 41580 0 8.24362E-6
1-230841814-G-A p.Ser330Leu missense AGT 1 83158 1.20253E-5 41579 0 0.00100705
1-230841819-G-A p.Asn328Asn synonymous AGT 11 83128 1.32326E-4 41564 0 1.98823E-5
1-230841824-C-G p.Asp327His missense AGT 2 83112 2.40639E-5 41556 0 3.57896E-5
1-230841839-A-G p.Trp322Arg missense AGT 5 82968 6.02642E-5 41484 0 8.24606E-6
1-230841852-G-A p.Gly317Gly synonymous AGT 2 82800 2.41546E-5 41400 0 2.47529E-5
1-230841852-G-T p.Gly317Gly synonymous AGT 1 82800 1.20773E-5 41400 0 3.1904E-5
1-230841858-G-A p.Gly315Gly synonymous AGT 1 82724 1.20884E-5 41362 0 3.18898E-5
1-230841864-G-A p.Leu313Leu synonymous AGT 1 82612 1.21048E-5 41306 0 3.18878E-5
1-230841875-C-G p.Val310Leu missense AGT 1 82270 1.21551E-5 41135 0 9.94795E-5
1-230841882-T-G p.Ser307Ser synonymous AGT 2 81996 2.43914E-5 40998 0 1.59755E-4
1-230841891-G-A p.Asn304Asn synonymous AGT 249 81534 0.00305394 40767 0 0.00375
1-230841909-C-T p.Gln298Gln synonymous AGT 1 80200 1.24688E-5 40100 0 3.18898E-5
1-230841912-G-A p.Pro297Pro synonymous AGT 1 79896 1.25163E-5 39948 0 2.39471E-5
1-230841913-G-A p.Pro297Leu missense AGT 1 79692 1.25483E-5 39846 0 8.33444E-6
1-230841914-GC-AT p.GluPro296GluSer missense AGT 14 79486 1.76132E-4 39743 0 NA
1-230841917-C-T p.Glu296Lys missense AGT 75 79032 9.48983E-4 39516 0 0.00302115
1-230841918-G-A p.Ala295Ala synonymous AGT 9 78860 1.14126E-4 39430 0 5.03525E-4
1-230841920-C-A p.Ala295Ser missense AGT 6 78492 7.64409E-5 39246 0 3.99837E-5
1-230841927-G-A p.Ser292Ser synonymous AGT 6 77442 7.74773E-5 38721 0 3.60407E-5
1-230841953-T-C c.857-7A>G splice_region AGT 1 70672 1.41499E-5 35336 0 NA
1-230845734-G-A c.856+7C>T splice_region AGT 1 82778 1.20805E-5 41389 0 3.982E-6
1-230845740-C-A c.856+1G>T splice_donor AGT 2 82856 2.41383E-5 41428 0 6.36983E-5
1-230845753-C-T p.Val282Ile missense AGT 2 82998 2.4097E-5 41499 0 1.59276E-4
1-230845754-G-A p.Tyr281Tyr synonymous AGT 2 83032 2.40871E-5 41516 0 9.55657E-5
1-230845755-T-C p.Tyr281Cys missense AGT 117 83062 0.00140859 41531 1 7.20157E-4
1-230845759-T-C p.Thr280Ala missense AGT 1 83096 1.20343E-5 41548 0 6.37471E-5
1-230845760-G-A p.Asn279Asn synonymous AGT 1 83104 1.20331E-5 41552 0 1.19355E-5
1-230845793-C-T p.Met268Ile missense AGT 2 83138 2.40564E-5 41569 0 3.97918E-6
1-230845794-A-G p.Met268Thr missense AGT 41798 81878 0.510491 40939 11513 0.575458
1-230845798-G-A p.Leu267Leu synonymous AGT 1 83142 1.20276E-5 41571 0 NA
1-230845799-G-A p.Ser266Ser synonymous AGT 1 83132 1.20291E-5 41566 0 NA
1-230845800-G-A p.Ser266Phe missense AGT 2 83132 2.40581E-5 41566 0 1.19378E-5
1-230845807-C-T p.Gly264Ser missense AGT 7 83176 8.41589E-5 41588 0 3.50475E-4
1-230845811-C-T p.Lys262Lys synonymous AGT 2 83168 2.40477E-5 41584 0 1.64872E-5
1-230845825-C-T p.Val258Met missense AGT 1 83164 1.20244E-5 41582 0 8.24294E-6
1-230845835-G-C p.Phe254Leu missense AGT 1 83140 1.20279E-5 41570 0 NA
1-230845844-A-G p.Ile251Ile synonymous AGT 1 83134 1.20288E-5 41567 0 1.9884E-5
1-230845860-A-G p.Val246Ala missense AGT 1 83118 1.20311E-5 41559 0 8.2447E-6
1-230845861-C-T p.Val246Ile missense AGT 1 83118 1.20311E-5 41559 0 NA
1-230845866-A-C p.Leu244Arg missense AGT 37 83102 4.45236E-4 41551 0 9.87576E-4
1-230845867-G-A p.Leu244Leu synonymous AGT 9 83078 1.08332E-4 41539 0 0.00151057
1-230845886-G-A p.Arg237Arg synonymous AGT 10 83022 1.2045E-4 41511 0 5.96678E-5
1-230845887-C-T p.Arg237His missense AGT 4 83006 4.81893E-5 41503 0 2.47513E-5
1-230845888-G-A p.Arg237Cys missense AGT 2 82996 2.40975E-5 41498 0 3.30022E-5
1-230845890-G-A p.Pro236Leu missense AGT 1 82986 1.20502E-5 41493 0 3.18756E-5
1-230845901-A-G p.Pro232Pro synonymous AGT 89 82856 0.00107415 41428 0 8.87484E-4
1-230845902-G-A p.Pro232Leu missense AGT 1 82842 1.20712E-5 41421 0 6.3676E-5
1-230845904-G-A p.Thr231Thr synonymous AGT 3 82814 3.62258E-5 41407 0 8.25546E-6
1-230845923-T-G p.Gln225Pro missense AGT 11 82456 1.33404E-4 41228 0 0.00151057
1-230845927-C-T p.Val224Met missense AGT 2 82388 2.42754E-5 41194 0 NA
1-230845932-G-T p.Pro222Gln missense AGT 1 82214 1.21634E-5 41107 0 NA
1-230845932-G-A p.Pro222Leu missense AGT 8 82214 9.7307E-5 41107 0 5.79864E-5
1-230845954-G-C p.Pro215Ala missense AGT 1 81526 1.2266E-5 40763 0 3.99524E-6
1-230845967-G-A p.Gly210Gly synonymous AGT 1 81082 1.23332E-5 40541 0 2.49688E-5
1-230845967-GC-G p.Gly210fs frameshift AGT 2 81082 2.46664E-5 40541 0 NA
1-230845967-G-T p.Gly210Gly synonymous AGT 1 81082 1.23332E-5 40541 0 2.49688E-5
1-230845973-C-G p.Val208Val synonymous AGT 2 81162 2.46421E-5 40581 0 8.32431E-6
1-230845976-C-T p.Thr207Thr synonymous AGT 5 81192 6.15824E-5 40596 0 6.37105E-5
1-230845977-G-A p.Thr207Met missense AGT 9195 80930 0.113617 40465 574 0.1242
1-230845994-G-A p.Ala201Ala synonymous AGT 1 81304 1.22995E-5 40652 0 NA
1-230845995-G-T p.Ala201Asp missense AGT 1 81270 1.23047E-5 40635 0 NA
1-230846003-A-G p.Asp198Asp synonymous AGT 1 81514 1.22678E-5 40757 0 NA
1-230846030-G-A p.Gly189Gly synonymous AGT 12 82088 1.46185E-4 41044 0 6.25E-4
1-230846034-T-C p.Gln188Arg missense AGT 1 82220 1.21625E-5 41110 0 3.99326E-6
1-230846035-G-T p.Gln188Lys missense AGT 1 82232 1.21607E-5 41116 0 NA
1-230846043-T-C p.Gln185Arg missense AGT 1 82350 1.21433E-5 41175 0 NA
1-230846048-G-A p.Ala183Ala synonymous AGT 1 82412 1.21342E-5 41206 0 NA
1-230846049-G-A p.Ala183Val missense AGT 1 82422 1.21327E-5 41211 0 NA
1-230846050-C-G p.Ala183Pro missense AGT 2 82466 2.42524E-5 41233 0 1.99365E-5
1-230846066-C-T p.Ala177Ala synonymous AGT 15 82664 1.81457E-4 41332 0 5.73687E-4
1-230846076-C-T p.Arg174Gln missense AGT 1 82858 1.20688E-5 41429 0 6.63119E-5
1-230846077-G-A p.Arg174Trp missense AGT 1 82856 1.20691E-5 41428 0 3.18654E-5
1-230846093-G-T p.Asp168Glu missense AGT 2 83004 2.40952E-5 41502 0 5.03525E-4
1-230846094-T-C p.Asp168Gly missense AGT 1 83022 1.2045E-5 41511 0 NA
1-230846113-G-C p.Leu162Val missense AGT 1 83106 1.20328E-5 41553 0 NA
1-230846116-T-C p.Ile161Val missense AGT 1 83112 1.2032E-5 41556 0 8.25627E-6
1-230846130-T-C p.Asp156Gly missense AGT 1 83162 1.20247E-5 41581 0 2.47508E-5
1-230846133-G-A p.Ala155Val missense AGT 1 83172 1.20233E-5 41586 0 3.18674E-5
1-230846136-G-A p.Thr154Ile missense AGT 2 83186 2.40425E-5 41593 0 1.19336E-5
1-230846145-A-C p.Leu151Trp missense AGT 3 83208 3.60542E-5 41604 0 1.27437E-4
1-230846182-C-G p.Val139Leu missense AGT 5 83286 6.00341E-5 41643 0 9.55292E-5
1-230846185-C-A p.Ala138Ser missense AGT 39 83286 4.68266E-4 41643 0 1.78958E-4
1-230846186-C-T p.Thr137Thr synonymous AGT 1 83292 1.2006E-5 41646 0 3.18512E-5
1-230846186-C-G p.Thr137Thr synonymous AGT 2 83292 2.40119E-5 41646 0 4.94381E-5
1-230846187-G-A p.Thr137Met missense AGT 335 83296 0.0040218 41648 0 0.005
1-230846188-T-C p.Thr137Ala missense AGT 5 83308 6.00182E-5 41654 0 5.76758E-5
1-230846190-G-A p.Pro136Leu missense AGT 4 83318 4.80088E-5 41659 0 3.18573E-5
1-230846198-GA-G p.Val133fs frameshift AGT 1 83306 1.20039E-5 41653 0 NA
1-230846200-C-T p.Val133Ile missense AGT 2 83298 2.40102E-5 41649 0 1.48302E-4
1-230846207-C-T p.Gly130Gly synonymous AGT 21 83292 2.52125E-4 41646 1 2.18709E-4
1-230846211-T-C p.His129Arg missense AGT 3 83302 3.60135E-5 41651 0 8.23832E-6
1-230846218-C-T p.Val127Met missense AGT 2 83298 2.40102E-5 41649 0 3.5789E-5
1-230846218-C-G p.Val127Leu missense AGT 1 83298 1.20051E-5 41649 0 NA
1-230846219-G-A p.Gly126Gly synonymous AGT 8 83292 9.60476E-5 41646 0 3.38007E-4
1-230846239-T-A p.Met120Leu missense AGT 1 83310 1.20034E-5 41655 0 1.64745E-5
1-230846243-A-G p.Tyr118Tyr synonymous AGT 1 83312 1.20031E-5 41656 0 NA
1-230846247-A-C p.Ile117Arg missense AGT 1 83326 1.20011E-5 41663 0 NA
1-230846250-C-T p.Arg116His missense AGT 4 83326 4.80042E-5 41663 0 3.18471E-5
1-230846257-C-A p.Gly114Cys missense AGT 1 83322 1.20016E-5 41661 0 3.18593E-5
1-230846260-A-G p.Leu113Leu synonymous AGT 6 83326 7.20063E-5 41663 0 0.00151057
1-230846267-G-A p.Ala110Ala synonymous AGT 2 83340 2.39981E-5 41670 0 1.59307E-4
1-230846268-G-A p.Ala110Val missense AGT 1 83342 1.19988E-5 41671 0 NA
1-230846270-C-A p.Leu109Leu synonymous AGT 1 83338 1.19993E-5 41669 0 6.36983E-5
1-230846278-C-T p.Gly107Arg missense AGT 1 83340 1.1999E-5 41670 0 6.36983E-5
1-230846287-C-T p.Ala104Thr missense AGT 2 83354 2.3994E-5 41677 0 2.38588E-5
1-230846287-C-G p.Ala104Pro missense AGT 1 83354 1.1997E-5 41677 0 NA
1-230846288-G-A p.Ala103Ala synonymous AGT 6 83354 7.19821E-5 41677 0 2.78346E-5
1-230846289-G-A p.Ala103Val missense AGT 2 83352 2.39946E-5 41676 0 3.18492E-5
1-230846291-C-T p.Arg102Arg synonymous AGT 1 83350 1.19976E-5 41675 0 3.18471E-5
1-230846305-C-T p.Glu98Lys missense AGT 169 83350 0.00202759 41675 4 0.00464968
1-230846306-G-A p.Thr97Thr synonymous AGT 7 83350 8.39832E-5 41675 0 5.76587E-5
1-230846323-C-T p.Ala92Thr missense AGT 6 83344 7.19908E-5 41672 0 NA
1-230846324-G-A p.Val91Val synonymous AGT 16 83346 1.91971E-4 41673 0 0.0038535
1-230846324-G-C p.Val91Val synonymous AGT 1 83346 1.19982E-5 41673 0 8.23669E-6
1-230846327-T-C p.Leu90Leu synonymous AGT 1 83342 1.19988E-5 41671 0 NA
1-230846336-C-A p.Gln87His missense AGT 4 83340 4.79962E-5 41670 0 5.9645E-5
1-230846343-T-C p.Gln85Arg missense AGT 1 83328 1.20008E-5 41664 0 NA
1-230846349-G-A p.Ala83Val missense AGT 8 83326 9.60085E-5 41663 0 1.91071E-4
1-230846350-C-T p.Ala83Thr missense AGT 2 83322 2.40033E-5 41661 0 7.95279E-6
1-230846385-G-A p.Pro71Leu missense AGT 19 83344 2.27971E-4 41672 0 5.03525E-4
1-230846399-G-T p.Thr66Thr synonymous AGT 2 83354 2.3994E-5 41677 0 1.64742E-5
1-230846399-G-C p.Thr66Thr synonymous AGT 1 83354 1.1997E-5 41677 0 3.97649E-6
1-230846410-T-C p.Lys63Glu missense AGT 1 83360 1.19962E-5 41680 0 8.23683E-6
1-230846412-G-T p.Pro62His missense AGT 2 83352 2.39946E-5 41676 0 NA
1-230846419-C-T p.Gly60Arg missense AGT 2 83348 2.39958E-5 41674 0 1.5907E-5
1-230846420-G-A p.Ala59Ala synonymous AGT 2 83358 2.39929E-5 41679 0 3.18593E-5
1-230846420-G-T p.Ala59Ala synonymous AGT 1 83358 1.19964E-5 41679 0 NA
1-230846427-G-T p.Ala57Asp missense AGT 1 83356 1.19967E-5 41678 0 NA
1-230846440-G-C p.Gln53Glu missense AGT 3 83340 3.59971E-5 41670 0 3.18715E-5
1-230846446-A-G p.Cys51Arg missense AGT 143 83344 0.00171578 41672 1 0.00302115
1-230846449-T-A p.Thr50Ser missense AGT 10 83342 1.19988E-4 41671 0 6.25E-4
1-230846455-C-T p.Glu48Lys missense AGT 1 83340 1.1999E-5 41670 0 1.64764E-5
1-230846467-C-T p.Val44Ile missense AGT 5 83308 6.00182E-5 41654 0 9.56145E-5
1-230846470-G-A p.Leu43Phe missense AGT 34 83300 4.08163E-4 41650 0 5.03525E-4
1-230846473-G-A p.His42Tyr missense AGT 1 83280 1.20077E-5 41640 0 NA
1-230846479-G-T p.Pro40Thr missense AGT 1 83250 1.2012E-5 41625 0 NA
1-230846480-G-A p.His39His synonymous AGT 1 83250 1.2012E-5 41625 0 1.64837E-5
1-230846481-T-G p.His39Pro missense AGT 1 83240 1.20135E-5 41620 0 NA
1-230846494-G-A p.Arg35Trp missense AGT 3 83130 3.60881E-5 41565 0 1.19741E-5
1-230846505-G-C p.Ala31Gly missense AGT 7 83096 8.42399E-5 41548 0 1.59256E-4
1-230846510-G-T p.Gly29Gly synonymous AGT 1 83074 1.20375E-5 41537 0 8.2631E-6
1-230846511-C-T p.Gly29Asp missense AGT 1 83066 1.20386E-5 41533 0 3.18471E-5
1-230846514-G-C p.Ala28Gly missense AGT 2 83044 2.40836E-5 41522 0 7.98703E-6
1-230846515-C-G p.Ala28Pro missense AGT 4 83046 4.81661E-5 41523 0 3.595E-5
1-230846522-CA-C p.Leu25fs frameshift AGT 1 83014 1.20462E-5 41507 0 NA
1-230846539-T-G p.Thr20Pro missense AGT 2 82756 2.41674E-5 41378 0 1.15883E-4
1-230846549-G-A p.Ser16Ser synonymous AGT 10 82596 1.21071E-4 41298 0 2.00139E-5
1-230846550-C-T p.Ser16Asn missense AGT 3 82598 3.63205E-5 41299 0 1.2009E-5
1-230846552-C-T p.Val15Val synonymous AGT 5 82582 6.05459E-5 41291 0 4.14786E-5
1-230846557-C-T p.Gly14Ser missense AGT 2 82454 2.42559E-5 41227 0 4.40705E-5
1-230846558-G-A p.Ala13Ala synonymous AGT 5 82424 6.06619E-5 41212 0 2.80451E-5
1-230846560-C-T p.Ala13Thr missense AGT 1 82364 1.21412E-5 41182 0 NA
1-230846567-C-T p.Met10Ile missense AGT 4 82254 4.86299E-5 41127 0 7.48615E-5
1-230846569-T-A p.Met10Leu missense AGT 3 82188 3.65017E-5 41094 0 0.003125
1-230846570-C-T p.Glu9Glu synonymous AGT 2 82192 2.43333E-5 41096 0 8.32168E-6
1-230846586-C-G p.Arg4Pro missense AGT 13 81884 1.58761E-4 40942 0 1.91107E-4
1-230846586-C-T p.Arg4Gln missense AGT 1 81884 1.22124E-5 40942 0 3.18512E-5
1-230846592-C-T p.Arg2Gln missense AGT 6 81760 7.33855E-5 40880 0 3.18512E-5
1-230846593-G-A p.Arg2Trp missense AGT 11 81680 1.34672E-4 40840 0 1.86649E-4
1-230846599-C-T c.-3G>A splice_region AGT 1 81552 1.22621E-5 40776 0 NA
1-230849824-C-T c.-4+8G>A splice_region AGT 3 3898 7.69625E-4 1949 0 5.41677E-4
1-230849857-G-A c.-29C>T 5_prime_UTR_premature_start_codon_gain AGT 16 3902 0.00410046 1951 0 0.00296518
1-230849877-G-A c.-49C>T 5_prime_UTR_premature_start_codon_gain AGT 4 3902 0.00102512 1951 0 3.82775E-4
1-230850014-C-T c.-186G>A 5_prime_UTR_premature_start_codon_gain AGT 2 3916 5.10725E-4 1958 0 NA
1-230850018-C-T c.-190G>A 5_prime_UTR_premature_start_codon_gain AGT 149 3908 0.0381269 1954 3 0.0338303