Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-343772-C-T c.-62C>T 5_prime_UTR_premature_start_codon_gain AHRR 1 30944 3.23164E-5 15472 0 3.19407E-5
5-343799-G-C c.-35G>C 5_prime_UTR_premature_start_codon_gain AHRR 3 42120 7.12251E-5 21060 0 NA
5-343830-G-A c.-11+7G>A splice_region AHRR 9 55060 1.63458E-4 27530 0 NA
5-344017-G-T p.Thr4Thr synonymous AHRR 1 78722 1.27029E-5 39361 0 NA
5-344022-T-A p.Ile6Asn missense AHRR 1 78648 1.27149E-5 39324 0 NA
5-344026-G-A p.Pro7Pro synonymous AHRR 30 78774 3.80836E-4 39387 0 0.00218691
5-344026-G-T p.Pro7Pro synonymous AHRR 1 78776 1.26942E-5 39388 0 NA
5-344026-GC-G p.Pro8fs frameshift AHRR 2 78776 2.53884E-5 39388 0 NA
5-344032-G-A p.Gly9Gly synonymous AHRR 1 78878 1.26778E-5 39439 0 3.1998E-5
5-344038-C-T p.Cys11Cys synonymous AHRR 1 78788 1.26923E-5 39394 0 4.28317E-6
5-344044-C-A p.Tyr13* stop_gained AHRR 4 78848 5.07305E-5 39424 0 1.28572E-5
5-344046-C-CG p.Arg16fs frameshift AHRR 1 78806 1.26894E-5 39403 0 NA
5-344056-G-C p.Lys17Asn missense AHRR 1 78846 1.2683E-5 39423 0 4.28603E-6
5-344062-G-C p.Arg19Ser missense AHRR 1 78828 1.26858E-5 39414 0 4.28614E-6
5-344069-C-G p.Leu22Val missense AHRR 1 78810 1.26887E-5 39405 0 NA
5-344073-A-G p.Gln23Arg missense AHRR 2 78794 2.53826E-5 39397 0 3.21688E-5
5-353836-TC-T c.75-8delC splice_region AHRR 1 80492 1.24236E-5 40246 0 NA
5-353837-C-T c.75-8C>T splice_region AHRR 1 80652 1.23989E-5 40326 0 1.27527E-4
5-353840-C-G c.75-5C>G splice_region AHRR 1 80754 1.23833E-5 40377 0 NA
5-353851-C-T c.-382C>T 5_prime_UTR_premature_start_codon_gain AHRR 10 81190 1.23168E-4 40595 0 1.06031E-4
5-353851-C-A p.Pro27Pro synonymous AHRR 2 81190 2.46336E-5 40595 0 8.83595E-6
5-353854-C-T c.-379C>T 5_prime_UTR_premature_start_codon_gain AHRR 7 81356 8.60416E-5 40678 0 1.91314E-4
5-353855-G-A p.Val29Met missense AHRR 10 81448 1.22778E-4 40724 0 1.91217E-4
5-353857-G-C p.Val29Val synonymous AHRR 1 81646 1.2248E-5 40823 0 8.64693E-6
5-353857-G-T c.-376G>T 5_prime_UTR_premature_start_codon_gain AHRR 3 81646 3.6744E-5 40823 0 8.64693E-6
5-353859-G-A p.Gly30Glu missense AHRR 1 81710 1.22384E-5 40855 0 NA
5-353861-G-T p.Ala31Ser missense AHRR 11 81764 1.34534E-4 40882 0 6.25E-4
5-353870-T-C p.Ser34Pro missense AHRR 9 82096 1.09628E-4 41048 0 1.52752E-4
5-353877-C-A p.Pro36His missense AHRR 2 82342 2.42889E-5 41171 0 8.42986E-6
5-353877-C-T p.Pro36Leu missense AHRR 1 82342 1.21445E-5 41171 0 3.18776E-5
5-353886-G-A p.Arg39Gln missense AHRR 3 82612 3.63143E-5 41306 0 9.55718E-5
5-353891-C-T p.Arg41Trp missense AHRR 2 82738 2.41727E-5 41369 0 8.37016E-6
5-353894-G-A p.Asp42Asn missense AHRR 1 82820 1.20744E-5 41410 0 NA
5-353898-G-A p.Arg43His missense AHRR 3 82914 3.61821E-5 41457 0 6.37349E-5
5-353904-A-G p.Asn45Ser missense AHRR 1 82982 1.20508E-5 41491 0 NA
5-353905-C-T c.-328C>T 5_prime_UTR_premature_start_codon_gain AHRR 14 83008 1.68658E-4 41504 0 0.00100705
5-353906-G-A p.Ala46Thr missense AHRR 1 83020 1.20453E-5 41510 0 3.18695E-5
5-353909-G-A p.Glu47Lys missense AHRR 1 83088 1.20354E-5 41544 0 NA
5-353910-A-G p.Glu47Gly missense AHRR 2 83092 2.40697E-5 41546 0 8.03071E-6
5-353912-T-C c.-321T>C 5_prime_UTR_premature_start_codon_gain AHRR 1 83114 1.20317E-5 41557 0 3.18979E-5
5-353925-C-G p.Ala52Gly missense AHRR 1 83168 1.20239E-5 41584 0 NA
5-353935-G-T p.Leu55Leu synonymous AHRR 1 83226 1.20155E-5 41613 0 NA
5-353935-G-A p.Leu55Leu synonymous AHRR 1 83226 1.20155E-5 41613 0 NA
5-353937-C-T p.Pro56Leu missense AHRR 3 83234 3.6043E-5 41617 0 3.32668E-5
5-353938-G-A p.Pro56Pro synonymous AHRR 176 83248 0.00211416 41624 0 0.00172172
5-353943-C-T p.Pro58Leu missense AHRR 2 83258 2.40217E-5 41629 0 8.31352E-6
5-353944-G-A p.Pro58Pro synonymous AHRR 1 83254 1.20114E-5 41627 0 1.66265E-5
5-353948-G-A p.Asp60Asn missense AHRR 1 83260 1.20106E-5 41630 0 NA
5-353962-G-A p.Lys64Lys synonymous AHRR 1 83272 1.20088E-5 41636 0 NA
5-353971-G-A p.Lys67Lys synonymous AHRR 1 83282 1.20074E-5 41641 0 NA
5-353972-C-A p.Leu68Ile missense AHRR 1 83288 1.20065E-5 41644 0 4.00988E-6
5-353978-G-A p.Val70Ile missense AHRR 1 83286 1.20068E-5 41643 0 4.01014E-6
5-353980-C-T p.Val70Val synonymous AHRR 2 83282 2.40148E-5 41641 0 8.31767E-6
5-353981-C-T c.-252C>T 5_prime_UTR_premature_start_codon_gain AHRR 2 83282 2.40148E-5 41641 0 0.001875
5-353984-C-T p.Arg72Cys missense AHRR 1 83270 1.20091E-5 41635 0 8.02407E-6
5-353990-A-G p.Ser74Gly missense AHRR 2 83272 2.40177E-5 41636 0 NA
5-354014-A-T p.Ser82Cys missense AHRR 1 83220 1.20163E-5 41610 0 NA
5-354031-G-C c.256+5G>C splice_region AHRR 1 83152 1.20262E-5 41576 0 4.07193E-6
5-354031-G-A c.256+5G>A splice_region AHRR 13 83150 1.56344E-4 41575 4 8.46783E-6
5-367948-C-T p.Ala90Ala synonymous AHRR 5 10528 4.74924E-4 5264 0 9.55718E-4
5-367948-C-A p.Ala90Ala synonymous AHRR 1 10528 9.49848E-5 5264 0 NA
5-367959-A-T p.Asp94Val missense AHRR 1 10534 9.49307E-5 5267 0 3.18593E-4
5-367968-C-T p.Thr97Met missense AHRR 1 10536 9.49127E-5 5268 0 9.55536E-5
5-367969-G-A p.Thr97Thr synonymous AHRR 59 10534 0.00560091 5267 3 0.0272046
5-367972-C-T p.Gly98Gly synonymous AHRR 13 10538 0.00123363 5269 0 0.00279955
5-367973-G-A p.Glu99Lys missense AHRR 1 10538 9.48947E-5 5269 0 4.66244E-4
5-367990-G-A p.Ser104Ser synonymous AHRR 29 10540 0.00275142 5270 1 0.0160758
5-367996-G-C p.Arg106Ser missense AHRR 1 10540 9.48767E-5 5270 0 NA
5-368002-C-T p.Pro108Pro synonymous AHRR 7 10540 6.64137E-4 5270 0 1.9118E-4
5-368030-C-T p.Arg118Cys missense AHRR 1 10538 9.48947E-5 5269 0 3.18552E-5
5-368031-G-A p.Arg118His missense AHRR 5 10538 4.74473E-4 5269 0 9.55779E-4
5-376718-C-T c.257-7C>T splice_region AHRR 1 80012 1.24981E-5 40006 0 NA
5-376721-A-G c.257-4A>G splice_region AHRR 1 80118 1.24816E-5 40059 0 NA
5-376726-C-T c.-205C>T 5_prime_UTR_premature_start_codon_gain AHRR 2 80272 2.49153E-5 40136 0 6.03282E-5
5-376726-C-G p.Val86Val splice_region+synonymous AHRR 1 80272 1.24576E-5 40136 0 NA
5-376727-G-A p.Val87Met missense+splice_region AHRR 2 80322 2.48998E-5 40161 0 3.21608E-5
5-376745-C-T p.Arg93Trp missense AHRR 2 80848 2.47378E-5 40424 0 2.13487E-5
5-376746-G-A p.Arg93Gln missense AHRR 2 80852 2.47366E-5 40426 0 1.20212E-4
5-376748-C-G p.Gln94Glu missense AHRR 1 80924 1.23573E-5 40462 0 4.48684E-6
5-376755-C-T p.Ala96Val missense AHRR 1 81106 1.23295E-5 40553 0 4.36613E-5
5-376756-G-A p.Ala96Ala synonymous AHRR 1 81168 1.23201E-5 40584 0 1.0801E-5
5-376759-C-T c.-172C>T 5_prime_UTR_premature_start_codon_gain AHRR 1 81216 1.23128E-5 40608 0 6.47585E-5
5-376760-G-A p.Gly98Ser missense AHRR 100 81218 0.00123125 40609 0 0.00279884
5-376762-C-T p.Gly98Gly synonymous AHRR 6 81256 7.38407E-5 40628 0 1.31308E-4
5-376763-G-A p.Ala99Thr missense AHRR 2 81280 2.46063E-5 40640 0 3.39095E-5
5-376770-C-T p.Ser101Leu missense AHRR 1 81350 1.22926E-5 40675 0 4.18372E-6
5-376771-G-A p.Ser101Ser synonymous AHRR 2 81344 2.45869E-5 40672 0 6.49519E-5
5-376774-C-T c.-157C>T 5_prime_UTR_premature_start_codon_gain AHRR 1 81458 1.22763E-5 40729 0 0.00203252
5-376775-G-A p.Gly103Arg missense AHRR 28 81400 3.4398E-4 40700 0 0.00109156
5-376784-T-C p.Cys106Arg missense AHRR 1 81598 1.22552E-5 40799 0 NA
5-376790-C-G p.Leu108Val missense AHRR 25 81678 3.0608E-4 40839 1 0.00101317
5-376795-A-G p.Ala109Ala synonymous AHRR 9 81702 1.10156E-4 40851 0 1.14658E-4
5-376801-T-A p.Ser111Ser synonymous AHRR 1 81724 1.22363E-5 40862 0 NA
5-376802-G-A p.Ala112Thr missense AHRR 1 81736 1.22345E-5 40868 0 4.20929E-6
5-376803-C-T p.Ala112Val missense AHRR 1 81716 1.22375E-5 40858 0 0.00254065
5-376805-G-A p.Val113Met missense AHRR 10 81724 1.22363E-4 40862 0 1.90119E-4
5-376809-T-C p.Leu114Pro missense AHRR 4542 81572 0.0556809 40786 556 0.101768
5-376826-T-C c.-105T>C 5_prime_UTR_premature_start_codon_gain AHRR 2 81676 2.4487E-5 40838 0 NA
5-376834-G-A c.363+3G>A splice_region AHRR 2 81576 2.4517E-5 40788 0 4.424E-6
5-376838-G-A c.363+7G>A splice_region AHRR 2 81462 2.45513E-5 40731 0 NA
5-413451-T-G c.364-8T>G splice_region AHRR 5 82820 6.03719E-5 41410 0 3.16141E-5
5-413452-C-T c.364-7C>T splice_region AHRR 2 82702 2.41832E-5 41351 0 0.008125
5-413457-A-G c.364-2A>G splice_acceptor AHRR 1 82892 1.20639E-5 41446 0 NA
5-413479-G-C p.Leu128Leu synonymous AHRR 1 83206 1.20184E-5 41603 0 8.2894E-6
5-413482-C-T c.-76C>T 5_prime_UTR_premature_start_codon_gain AHRR 3 83202 3.60568E-5 41601 0 3.31543E-5
5-413483-G-A p.Val130Met missense AHRR 1 83186 1.20213E-5 41593 0 6.39468E-5
5-413499-C-T p.Thr135Met missense AHRR 15 83240 1.80202E-4 41620 0 5.03525E-4
5-413500-G-A p.Thr135Thr synonymous AHRR 3 83236 3.60421E-5 41618 0 7.45663E-5
5-413520-C-T p.Thr142Met missense AHRR 1 83252 1.20117E-5 41626 0 4.1423E-5
5-413521-G-A p.Thr142Thr synonymous AHRR 71 83244 8.52914E-4 41622 0 0.00105176
5-413521-G-C p.Thr142Thr synonymous AHRR 2 83248 2.40246E-5 41624 0 3.18715E-5
5-413524-C-T c.-34C>T 5_prime_UTR_premature_start_codon_gain AHRR 1 83240 1.20135E-5 41620 0 3.18796E-5
5-413525-G-A p.Val144Met missense AHRR 1 83238 1.20137E-5 41619 0 6.37471E-5
5-413540-T-G p.Phe149Val missense AHRR 1 83212 1.20175E-5 41606 0 NA
5-413553-A-G c.453+5A>G splice_region AHRR 2 83146 2.40541E-5 41573 0 NA
5-421071-A-G c.-364A>G 5_prime_UTR_premature_start_codon_gain AHRR 1 7234 1.38236E-4 3617 0 NA
5-421081-C-T c.-354C>T 5_prime_UTR_premature_start_codon_gain AHRR 1 7666 1.30446E-4 3833 0 3.18817E-5
5-421119-G-T c.-316G>T 5_prime_UTR_premature_start_codon_gain AHRR 1 9822 1.01812E-4 4911 0 NA
5-421157-G-A c.-278G>A 5_prime_UTR_premature_start_codon_gain AHRR 1 12562 7.96052E-5 6281 0 NA
5-421170-C-T c.-265C>T 5_prime_UTR_premature_start_codon_gain AHRR 1 14966 6.68181E-5 7483 0 6.37714E-5
5-421228-C-A c.-207C>A 5_prime_UTR_premature_start_codon_gain AHRR 1 27684 3.61219E-5 13842 0 NA
5-421266-C-T c.-169C>T 5_prime_UTR_premature_start_codon_gain AHRR 3 37770 7.94281E-5 18885 0 NA
5-421284-G-T c.-151G>T 5_prime_UTR_premature_start_codon_gain AHRR 2 39766 5.02942E-5 19883 0 3.18492E-5
5-421290-C-T c.-145C>T 5_prime_UTR_premature_start_codon_gain AHRR 1 40320 2.48016E-5 20160 0 3.18573E-5
5-421296-G-C c.-139G>C 5_prime_UTR_premature_start_codon_gain AHRR 4 41188 9.71157E-5 20594 0 3.18573E-5
5-421305-A-T c.-130A>T 5_prime_UTR_premature_start_codon_gain AHRR 19 42246 4.49747E-4 21123 0 1.27429E-4
5-421314-T-A c.-121T>A 5_prime_UTR_premature_start_codon_gain AHRR 1 43518 2.2979E-5 21759 0 NA
5-421338-C-T c.-97C>T 5_prime_UTR_premature_start_codon_gain AHRR 1 46974 2.12884E-5 23487 0 NA
5-421367-G-T c.-68G>T 5_prime_UTR_premature_start_codon_gain AHRR 2 49796 4.01639E-5 24898 0 NA
5-421379-G-C c.-56G>C 5_prime_UTR_premature_start_codon_gain AHRR 1 50398 1.98421E-5 25199 0 NA
5-421441-G-T p.Gly3Cys missense AHRR 3 51482 5.82728E-5 25741 0 4.76682E-5
5-421444-AG-A p.Met6fs frameshift AHRR 11 51492 2.13625E-4 25746 0 3.68528E-4
5-421446-G-A p.Arg4Arg synonymous AHRR 4 51530 7.76247E-5 25765 0 5.64289E-5
5-421448-G-T p.Gly5Val missense AHRR 1 51570 1.93911E-5 25785 0 1.62198E-5
5-421454-C-T p.Pro7Leu missense+splice_region AHRR 1 51574 1.93896E-5 25787 0 NA
5-421455-G-T p.Pro7Pro splice_region+synonymous AHRR 13049 51182 0.254953 25591 1928 0.252994
5-422841-C-T c.454-3C>T splice_region AHRR 1 83354 1.1997E-5 41677 0 8.28473E-6
5-422846-G-T c.-7G>T 5_prime_UTR_premature_start_codon_gain AHRR 5 83348 5.99894E-5 41674 0 6.37105E-5
5-422870-T-G p.Tyr160* stop_gained AHRR 1 83350 1.19976E-5 41675 0 NA
5-422873-C-T p.Asp157Asp splice_region+synonymous AHRR 28 83348 3.35941E-4 41674 1 0.0011542
5-422877-A-C p.Ile163Leu missense AHRR 1 83336 1.19996E-5 41668 0 NA
5-422882-C-T p.His164His synonymous AHRR 85 83320 0.00102016 41660 1 0.00264399
5-422883-G-A p.Val165Met missense AHRR 5 83322 6.00082E-5 41661 0 1.27421E-4
5-422906-C-T p.Cys172Cys synonymous AHRR 887 83298 0.0106485 41649 10 0.014465
5-422906-CC-TT p.CysArg172CysTrp missense AHRR 1 83310 1.20034E-5 41655 0 NA
5-422907-C-T p.Arg173Trp missense AHRR 3 83308 3.60109E-5 41654 0 4.00885E-6
5-422918-C-G p.His176Gln missense AHRR 1 83284 1.20071E-5 41642 0 4.00943E-6
5-422930-C-T p.Asp180Asp synonymous AHRR 1 83274 1.20085E-5 41637 0 NA
5-422946-T-G p.Phe186Val missense AHRR 1 83266 1.20097E-5 41633 0 NA
5-422955-C-G p.Pro189Ala missense AHRR 28048 81642 0.343549 40821 5009 0.452165
5-422958-C-T p.Pro190Ser missense AHRR 1 83232 1.20146E-5 41616 0 NA
5-422973-G-C p.Gly195Arg missense+splice_region AHRR 1 83176 1.20227E-5 41588 0 NA
5-423984-C-T p.Leu204Leu synonymous AHRR 1 82680 1.20948E-5 41340 0 2.55011E-5
5-424010-C-T p.Thr213Met missense AHRR 30 82652 3.62968E-4 41326 0 6.37349E-5
5-424011-G-T p.Thr213Thr synonymous AHRR 1 82628 1.21024E-5 41314 0 NA
5-424015-A-G p.Thr215Ala missense AHRR 1 82620 1.21036E-5 41310 0 NA
5-424017-C-T p.Thr215Thr synonymous AHRR 4 82614 4.84179E-5 41307 0 4.2219E-5
5-424026-G-A p.Ser218Ser synonymous AHRR 3 82630 3.63064E-5 41315 0 3.18715E-5
5-424038-C-T p.Thr222Thr synonymous AHRR 1 82680 1.20948E-5 41340 0 3.18695E-5
5-424039-C-T p.Arg223Cys missense AHRR 10 82684 1.20942E-4 41342 0 6.37349E-5
5-424052-G-C p.Cys227Ser missense AHRR 8 82632 9.68148E-5 41316 0 5.04032E-4
5-424052-G-A p.Cys227Tyr missense AHRR 2 82632 2.42037E-5 41316 0 NA
5-424053-C-T p.Cys227Cys synonymous AHRR 6 82640 7.26041E-5 41320 0 6.25E-4
5-424054-C-T p.Arg228Cys missense AHRR 1 82636 1.21013E-5 41318 0 NA
5-424055-G-A p.Arg228His missense AHRR 1 82650 1.20992E-5 41325 0 4.17293E-6
5-424061-G-A p.Arg230His missense AHRR 1 82602 1.21062E-5 41301 0 6.37349E-5
5-424063-T-A p.Cys231Ser missense AHRR 1 82626 1.21027E-5 41313 0 NA
5-424071-G-A p.Leu233Leu synonymous AHRR 1 82546 1.21145E-5 41273 0 3.39957E-5
5-424082-C-T p.Ser237Leu missense AHRR 1 82410 1.21345E-5 41205 0 3.18674E-5
5-424086-C-A p.Gly238Gly synonymous AHRR 2 82354 2.42854E-5 41177 0 8.59047E-6
5-424090-C-T p.Leu240Leu splice_region+synonymous AHRR 1 82368 1.21406E-5 41184 0 6.25E-4
5-424095-G-C c.720+3G>C splice_region AHRR 1 82296 1.21513E-5 41148 0 NA
5-424097-G-C c.720+5G>C splice_region AHRR 1 82280 1.21536E-5 41140 0 NA
5-424098-T-C c.720+6T>C splice_region AHRR 4 82244 4.86358E-5 41122 0 1.73151E-5
5-424100-C-T c.720+8C>T splice_region AHRR 6 82168 7.30211E-5 41084 0 1.9118E-4
5-427743-ACT-A c.721-8_721-7delCT splice_region AHRR 1 82786 1.20793E-5 41393 0 1.20561E-5
5-427744-C-G c.721-8C>G splice_region AHRR 1 82824 1.20738E-5 41412 0 3.18634E-5
5-427746-C-T c.721-6C>T splice_region AHRR 1 82830 1.20729E-5 41415 0 NA
5-427752-G-GC p.Arg242fs frameshift AHRR 1 82860 1.20685E-5 41430 0 NA
5-427752-G-T p.Ala241Ser missense+splice_region AHRR 1 82860 1.20685E-5 41430 0 6.37592E-5
5-427755-C-T p.Arg242Trp missense AHRR 4 82862 4.8273E-5 41431 0 3.18695E-5
5-427756-G-A p.Arg242Gln missense AHRR 2 82908 2.41231E-5 41454 0 3.19183E-5
5-427759-G-GGTCACAGGCTTGGCAGCTGCGGCTCTGCT p.Pro254fs frameshift AHRR 11 82888 1.32709E-4 41444 0 8.92402E-4
5-427760-G-A p.Gly243Gly synonymous AHRR 143 82894 0.00172509 41447 0 0.005
5-427764-CA-C p.Gln245fs frameshift AHRR 1 82896 1.20633E-5 41448 0 4.04708E-6
5-427779-C-T p.Arg250Trp missense AHRR 3 81842 3.6656E-5 40921 0 4.04047E-6
5-427780-G-A p.Arg250Gln missense AHRR 1 81968 1.21999E-5 40984 0 8.06458E-6
5-427790-T-C p.Cys253Cys synonymous AHRR 4 82024 4.87662E-5 41012 0 0.00151057
5-427793-C-T p.Pro254Pro synonymous AHRR 5 82318 6.07401E-5 41159 0 6.38244E-5
5-427918-C-A c.775-4C>A splice_region AHRR 7 83134 8.42014E-5 41567 0 3.89893E-4
5-427921-GA-G p.Thr259fs frameshift AHRR 1 83140 1.20279E-5 41570 0 NA
5-427923-C-T p.Thr259Met missense+splice_region AHRR 2 83130 2.40587E-5 41565 0 6.25E-4
5-427924-G-A p.Thr259Thr splice_region+synonymous AHRR 2 83128 2.40593E-5 41564 0 3.1839E-5
5-427930-G-C p.Gln261His missense AHRR 1 83144 1.20273E-5 41572 0 NA
5-427957-T-C p.Phe270Phe synonymous AHRR 1 83106 1.20328E-5 41553 0 4.01046E-6
5-427974-C-T p.Ala276Val missense AHRR 2 82988 2.40999E-5 41494 0 6.66311E-5
5-427977-C-T p.Pro277Leu missense AHRR 3 82958 3.61629E-5 41479 0 3.00025E-4
5-427978-G-A p.Pro277Pro synonymous AHRR 1 82976 1.20517E-5 41488 0 2.50029E-5
5-427991-C-T p.Leu282Phe missense AHRR 4 82966 4.82125E-5 41483 0 2.41196E-5
5-427995-C-T p.Pro283Leu missense AHRR 5 83052 6.02032E-5 41526 0 1.59205E-4
5-427996-G-A p.Pro283Pro synonymous AHRR 3 83052 3.61219E-5 41526 0 5.03525E-4
5-427998-C-T p.Pro284Leu missense AHRR 5 83050 6.02047E-5 41525 0 8.35129E-6
5-427999-G-A p.Pro284Pro synonymous AHRR 1 83022 1.2045E-5 41511 0 5.03525E-4
5-428000-C-T p.Arg285Trp missense AHRR 2 83012 2.40929E-5 41506 0 3.33912E-5
5-428005-G-C p.Leu286Leu synonymous AHRR 1 83024 1.20447E-5 41512 0 NA
5-428011-G-C p.Leu288Leu synonymous AHRR 7 83022 8.4315E-5 41511 0 0.00100705
5-428022-C-T p.Ala292Val missense AHRR 148 83022 0.00178266 41511 1 0.010625
5-428023-G-A p.Ala292Ala synonymous AHRR 2 83020 2.40906E-5 41510 0 6.25E-4
5-428029-C-T p.Pro294Pro synonymous AHRR 2 83040 2.40848E-5 41520 0 8.02865E-6
5-428030-G-A p.Val295Ile missense AHRR 25 83042 3.01052E-4 41521 0 5.41436E-4
5-428036-C-T p.Leu297Phe missense AHRR 2 83046 2.4083E-5 41523 0 8.37367E-6
5-428041-C-T p.Pro298Pro synonymous AHRR 1 83062 1.20392E-5 41531 0 1.17324E-4
5-428044-C-T p.Ser299Ser synonymous AHRR 1690 82994 0.0203629 41497 20 0.0167024
5-428045-G-A p.Ala300Thr missense AHRR 2 83028 2.40883E-5 41514 0 3.18451E-5
5-428049-C-T p.Ala301Val missense AHRR 4 83042 4.81684E-5 41521 0 4.19526E-5
5-428054-A-T p.Met303Leu missense AHRR 1 83070 1.2038E-5 41535 0 NA
5-428061-TGAG-T p.Arg306del disruptive_inframe_deletion AHRR 2 83058 2.40796E-5 41529 0 3.18674E-5
5-428068-C-T p.Ser307Ser synonymous AHRR 3 83056 3.61202E-5 41528 0 NA
5-428068-C-G p.Ser307Arg missense AHRR 1 83056 1.20401E-5 41528 0 NA
5-428070-C-T p.Ala308Val missense AHRR 19 83062 2.28745E-4 41531 0 5.73175E-4
5-428071-G-A p.Ala308Ala synonymous AHRR 1 83066 1.20386E-5 41533 0 5.03525E-4
5-428072-C-G p.Leu309Val missense AHRR 1 83070 1.2038E-5 41535 0 NA
5-428094-C-G p.Ala316Gly missense AHRR 1 83014 1.20462E-5 41507 0 NA
5-428099-A-G p.Thr318Ala missense AHRR 1 83002 1.20479E-5 41501 0 4.02622E-6
5-428110-C-T p.Thr321Thr synonymous AHRR 1 82904 1.20621E-5 41452 0 1.20899E-5
5-428111-G-A p.Ala322Thr missense AHRR 5 82890 6.03209E-5 41445 0 2.82165E-5
5-428112-C-T p.Ala322Val missense AHRR 2 82876 2.41324E-5 41438 0 5.04032E-4
5-428113-G-A p.Ala322Ala synonymous AHRR 1 82884 1.20651E-5 41442 0 4.41844E-5
5-428121-A-T p.Lys325Ile missense+splice_region AHRR 1 82806 1.20764E-5 41403 0 NA
5-432570-C-G c.975-8C>G splice_region AHRR 1 83186 1.20213E-5 41593 0 3.1835E-5
5-432571-T-G c.975-7T>G splice_region AHRR 1 83192 1.20204E-5 41596 0 4.00741E-6
5-432602-C-T p.Cys333Cys synonymous AHRR 6 83226 7.20929E-5 41613 0 6.25E-4
5-432603-G-A p.Glu334Lys missense AHRR 1 83220 1.20163E-5 41610 0 3.1837E-5
5-432607-C-T p.Ser335Leu missense AHRR 6 83234 7.20859E-5 41617 0 6.3678E-5
5-432619-GA-G p.Lys340fs frameshift AHRR 1 83228 1.20152E-5 41614 0 NA
5-432623-A-G p.Lys340Lys synonymous AHRR 1 83214 1.20172E-5 41607 0 NA
5-432628-A-G p.Asn342Ser missense AHRR 1 83228 1.20152E-5 41614 0 6.25E-4
5-432647-G-A c.1036+8G>A splice_region AHRR 2 83172 2.40466E-5 41586 0 3.18431E-5
5-432913-C-A c.1037-8C>A splice_region AHRR 3 83118 3.60933E-5 41559 0 2.49418E-5
5-432931-C-T p.Ser349Ser synonymous AHRR 2 83152 2.40523E-5 41576 0 4.01023E-6
5-432940-C-T p.Ser352Ser synonymous AHRR 9 83136 1.08256E-4 41568 0 6.25E-4
5-432943-C-T p.Gly353Gly synonymous AHRR 3 83136 3.60855E-5 41568 0 1.08202E-4
5-432947-T-C p.Leu355Leu synonymous AHRR 1 83168 1.20239E-5 41584 0 NA
5-432952-G-T p.Val356Val synonymous AHRR 1 83124 1.20302E-5 41562 0 0.00100705
5-432970-C-T p.Asp362Asp synonymous AHRR 104 83042 0.00125238 41521 0 0.0022004
5-432971-G-A p.Ala363Thr missense AHRR 1 83026 1.20444E-5 41513 0 6.37674E-5
5-432978-G-A p.Arg365Gln missense AHRR 3 83028 3.61324E-5 41514 0 5.62335E-5
5-432990-T-G p.Val369Gly missense AHRR 2 82964 2.41068E-5 41482 0 8.4558E-6
5-432994-C-T p.Pro370Pro synonymous AHRR 4 82916 4.82416E-5 41458 0 6.8438E-5
5-432995-G-A p.Ala371Thr missense AHRR 13 82908 1.568E-4 41454 0 1.48977E-4
5-432996-C-G p.Ala371Gly missense AHRR 3 82890 3.61925E-5 41445 0 2.5492E-5
5-433000-G-A p.Arg372Arg synonymous AHRR 1 82812 1.20755E-5 41406 0 4.02696E-6
5-433001-G-A p.Ala373Thr missense AHRR 1 82812 1.20755E-5 41406 0 NA
5-433006-A-G p.Pro374Pro synonymous AHRR 1 82756 1.20837E-5 41378 0 2.5763E-5
5-433012-GT-G p.Cys377fs frameshift AHRR 1 82592 1.21077E-5 41296 0 NA
5-433013-T-G p.Cys377Gly missense AHRR 1 82572 1.21106E-5 41286 0 1.13398E-4
5-433014-G-C p.Cys377Ser missense AHRR 1 82512 1.21194E-5 41256 0 NA
5-433019-C-T p.Arg379Trp missense AHRR 28 82320 3.40136E-4 41160 0 3.01418E-4
5-433020-G-A p.Arg379Gln missense AHRR 13 82244 1.58066E-4 41122 0 0.00125
5-433033-C-T p.Asp383Asp synonymous AHRR 1 81786 1.2227E-5 40893 0 8.20674E-6
5-433056-G-T p.Gly391Val missense AHRR 2039 80670 0.0252758 40335 39 0.0415094
5-433059-C-T p.Ser392Leu missense AHRR 1 80726 1.23876E-5 40363 0 NA
5-433068-T-C c.1178+6T>C splice_region AHRR 2 80376 2.4883E-5 40188 0 6.37918E-5
5-433069-G-A c.1178+7G>A splice_region AHRR 3 80374 3.73255E-5 40187 0 3.29823E-5
5-433961-T-C c.1179-7T>C splice_region AHRR 2 78338 2.55304E-5 39169 0 2.98781E-5
5-433964-G-A c.1179-4G>A splice_region AHRR 1 78534 1.27333E-5 39267 0 NA
5-433964-G-T c.1179-4G>T splice_region AHRR 1 78534 1.27333E-5 39267 0 NA
5-433967-G-A c.1179-1G>A splice_acceptor AHRR 1 78734 1.2701E-5 39367 0 NA
5-433968-G-A p.Gly393Gly splice_region+synonymous AHRR 1 78824 1.26865E-5 39412 0 3.18695E-5
5-433997-T-C p.Leu403Pro missense AHRR 1 80138 1.24785E-5 40069 0 NA
5-433998-G-A p.Leu403Leu synonymous AHRR 19 80258 2.36737E-4 40129 0 0.00353893
5-434017-A-T p.Thr410Ser missense AHRR 1 80786 1.23784E-5 40393 0 NA
5-434024-G-A p.Arg412Gln missense AHRR 23 81162 2.83384E-4 40581 0 4.7853E-4
5-434027-G-T p.Arg413Met missense AHRR 1 81262 1.23059E-5 40631 0 NA
5-434030-A-C p.Glu414Ala missense AHRR 1 81232 1.23104E-5 40616 0 NA
5-434041-C-T p.Pro418Ser missense AHRR 1 81442 1.22787E-5 40721 0 NA
5-434045-C-G p.Thr419Arg missense AHRR 6 81548 7.35763E-5 40774 0 6.25E-4
5-434047-A-G p.Lys420Glu missense AHRR 1 81584 1.22573E-5 40792 0 9.3726E-6
5-434052-C-T p.Pro421Pro synonymous AHRR 2 81626 2.4502E-5 40813 0 5.04032E-4
5-434066-C-T p.Ala426Val missense AHRR 39 81638 4.77719E-4 40819 0 3.82406E-4
5-434067-G-A p.Ala426Ala synonymous AHRR 1 81684 1.22423E-5 40842 0 9.32053E-6
5-434070-A-C p.Gly427Gly synonymous AHRR 2 81690 2.44828E-5 40845 0 9.57182E-5
5-434073-G-A p.Lys428Lys synonymous AHRR 1 81720 1.22369E-5 40860 0 4.95211E-6
5-434076-C-G p.His429Gln missense AHRR 1 81702 1.22396E-5 40851 0 NA
5-434096-C-T p.Pro436Leu missense AHRR 2 81458 2.45525E-5 40729 0 1.42827E-5
5-434097-G-A p.Pro436Pro synonymous AHRR 1 81466 1.22751E-5 40733 0 4.76045E-6
5-434109-C-A p.Pro440Pro synonymous AHRR 3 81354 3.68759E-5 40677 0 1.11326E-4
5-434118-T-C p.Asn443Asn synonymous AHRR 1 81214 1.23131E-5 40607 0 4.68885E-6
5-434120-A-G p.Asp444Gly missense AHRR 2 80936 2.47109E-5 40468 0 NA
5-434122-C-T p.Pro445Ser missense AHRR 1 81140 1.23244E-5 40570 0 5.03525E-4
5-434123-C-T p.Pro445Leu missense AHRR 2 81088 2.46646E-5 40544 0 9.57916E-5
5-434125-C-T p.Pro446Ser missense AHRR 1 81042 1.23393E-5 40521 0 NA
5-434134-C-T p.Arg449Cys missense AHRR 7 80872 8.65565E-5 40436 0 0.00100705
5-434135-G-A p.Arg449His missense AHRR 1 80834 1.2371E-5 40417 0 3.19387E-5
5-434136-C-A p.Arg449Arg synonymous AHRR 2 80984 2.46962E-5 40492 0 0.0015121
5-434143-C-T p.Pro452Ser missense AHRR 1 80948 1.23536E-5 40474 0 NA
5-434146-C-T p.Arg453Cys missense AHRR 732 80884 0.00905 40442 2 0.00670188
5-434149-G-A p.Gly454Ser missense AHRR 2 80742 2.47703E-5 40371 0 6.38162E-5
5-434156-G-GCATGC p.Leu457fs frameshift AHRR 1 80722 1.23882E-5 40361 0 1.23474E-5
5-434159-T-G p.Leu457Arg missense AHRR 2 80742 2.47703E-5 40371 0 NA
5-434160-G-C p.Leu457Leu synonymous AHRR 2 80698 2.47838E-5 40349 0 NA
5-434162-C-T p.Pro458Leu missense AHRR 3 80756 3.71489E-5 40378 0 9.56511E-5
5-434167-C-T p.Pro460Ser missense AHRR 1 80692 1.23928E-5 40346 0 NA
5-434169-G-A p.Pro460Pro synonymous AHRR 14 80592 1.73715E-4 40296 0 0.00100026
5-434177-A-G p.Gln463Arg missense AHRR 1 80704 1.2391E-5 40352 0 4.07222E-6
5-434188-A-G p.Arg467Gly missense AHRR 1 80614 1.24048E-5 40307 0 3.19428E-5
5-434195-C-T p.Ser469Leu missense AHRR 4 80420 4.97389E-5 40210 0 3.82848E-4
5-434196-G-T p.Ser469Ser synonymous AHRR 62 80312 7.71989E-4 40156 1 0.00380469
5-434196-G-A p.Ser469Ser synonymous AHRR 371 80292 0.00462063 40146 2 0.0144291
5-434202-C-G p.Ile471Met missense AHRR 1 80558 1.24134E-5 40279 0 2.03092E-5
5-434206-C-T p.His473Tyr missense AHRR 1 80488 1.24242E-5 40244 0 NA
5-434208-C-T p.His473His synonymous AHRR 1 81050 1.23381E-5 40525 0 NA
5-434211-G-A p.Pro474Pro synonymous AHRR 6 81132 7.39536E-5 40566 0 3.1904E-5
5-434214-G-A p.Pro475Pro synonymous AHRR 1 81186 1.23174E-5 40593 0 3.19163E-5
5-434219-C-T p.Pro477Leu missense AHRR 17 81322 2.09046E-4 40661 0 5.60186E-4
5-434226-C-T p.Pro479Pro synonymous AHRR 1 81412 1.22832E-5 40706 0 3.18715E-5
5-434237-C-T p.Ser483Phe missense AHRR 4 81526 4.90641E-5 40763 0 3.50676E-4
5-434241-C-T p.Ser484Ser synonymous AHRR 1 81478 1.22733E-5 40739 0 1.7085E-5
5-434242-C-T p.Arg485Trp missense AHRR 3 81524 3.6799E-5 40762 0 3.41816E-5
5-434245-A-G p.Thr486Ala missense AHRR 2 81538 2.45284E-5 40769 0 8.55886E-6
5-434260-C-T p.Arg491Trp missense AHRR 1 81528 1.22657E-5 40764 0 8.67107E-5
5-434261-G-A p.Arg491Gln missense AHRR 4 81558 4.90449E-5 40779 0 1.47321E-4
5-434266-G-A p.Val493Ile missense AHRR 1 81476 1.22736E-5 40738 0 NA
5-434268-C-T p.Val493Val synonymous AHRR 167 81422 0.00205104 40711 0 0.00408372
5-434269-G-A p.Gly494Ser missense AHRR 1 81396 1.22856E-5 40698 0 1.2416E-5
5-434283-G-A p.Val498Val synonymous AHRR 2 80904 2.47207E-5 40452 0 NA
5-434284-C-T p.His499Tyr missense AHRR 424 80912 0.00524026 40456 2 0.00563545
5-434291-C-T p.Pro501Leu missense AHRR 4 81038 4.93596E-5 40519 0 6.37633E-5
5-434292-C-T p.Pro501Pro synonymous AHRR 1 81036 1.23402E-5 40518 0 NA
5-434297-G-A p.Cys503Tyr missense AHRR 1 80818 1.23735E-5 40409 0 8.92507E-6
5-434301-C-G p.His504Gln missense AHRR 1 80880 1.2364E-5 40440 0 NA
5-434317-C-G p.Leu510Val missense AHRR 1 80916 1.23585E-5 40458 0 NA
5-434319-G-A p.Leu510Leu synonymous AHRR 1 80846 1.23692E-5 40423 0 NA
5-434339-C-T p.Pro517Leu missense AHRR 1 80868 1.23658E-5 40434 0 3.49257E-5
5-434349-G-C p.Gln520His missense AHRR 1 80778 1.23796E-5 40389 0 NA
5-434360-C-T p.Thr524Met missense AHRR 2 80776 2.47598E-5 40388 0 0.00100705
5-434361-G-A p.Thr524Thr synonymous AHRR 1 80766 1.23814E-5 40383 0 4.27991E-5
5-434364-G-A p.Arg525Arg synonymous AHRR 1 80774 1.23802E-5 40387 0 NA
5-434377-G-A p.Glu530Lys missense AHRR 51 80664 6.32252E-4 40332 0 0.00117902
5-434380-G-A p.Asp531Asn missense AHRR 2 80584 2.48188E-5 40292 1 NA
5-434381-A-G p.Asp531Gly missense AHRR 1 80536 1.24168E-5 40268 0 NA
5-434388-G-A p.Lys533Lys synonymous AHRR 1 80412 1.2436E-5 40206 0 NA
5-434398-G-A p.Val537Ile missense AHRR 1 80234 1.24635E-5 40117 0 NA
5-434402-C-G p.Pro538Arg missense AHRR 2 80036 2.49888E-5 40018 0 4.11896E-5
5-434403-G-A p.Pro538Pro synonymous AHRR 1 80082 1.24872E-5 40041 0 4.41298E-5
5-434411-C-T p.Pro541Leu missense AHRR 2 79802 2.5062E-5 39901 0 6.37552E-5
5-434411-C-A p.Pro541Gln missense AHRR 2 79804 2.50614E-5 39902 0 NA
5-434412-G-T p.Pro541Pro synonymous AHRR 1 79720 1.25439E-5 39860 0 1.75793E-5
5-434412-G-C p.Pro541Pro synonymous AHRR 1 79720 1.25439E-5 39860 0 NA
5-434415-G-C p.Gly542Gly synonymous AHRR 1 79624 1.2559E-5 39812 0 8.76793E-6
5-434418-C-T p.Asp543Asp synonymous AHRR 3 79572 3.77017E-5 39786 0 NA
5-434419-CTG-C p.Cys545fs frameshift AHRR 1 79590 1.25644E-5 39795 0 NA
5-434419-C-A p.Leu544Met missense AHRR 1 79590 1.25644E-5 39795 0 3.18796E-5
5-434421-G-C p.Leu544Leu synonymous AHRR 1 79688 1.25489E-5 39844 0 4.08333E-6
5-434423-G-A p.Cys545Tyr missense AHRR 1 79640 1.25565E-5 39820 0 NA
5-434430-G-A p.Pro547Pro synonymous AHRR 94 79500 0.00118239 39750 2 0.00248677
5-434448-G-A p.Val553Val synonymous AHRR 1 79794 1.25323E-5 39897 0 1.62413E-5
5-434452-A-G p.Ile555Val missense AHRR 1 79872 1.252E-5 39936 0 NA
5-434469-C-G p.Asp560Glu missense AHRR 1 80316 1.24508E-5 40158 0 4.45886E-5
5-434494-G-A p.Gly569Ser missense AHRR 2 81008 2.46889E-5 40504 0 1.61862E-5
5-434498-G-A p.Cys570Tyr missense AHRR 1 81150 1.23229E-5 40575 0 NA
5-434511-G-A p.Gln574Gln synonymous AHRR 2 81282 2.46057E-5 40641 0 5.03525E-4
5-434520-G-T p.Leu577Leu synonymous AHRR 1 81054 1.23375E-5 40527 0 8.12988E-6
5-434525-C-T p.Ala579Val missense AHRR 5 80478 6.21288E-5 40239 0 4.10796E-6
5-434546-C-T p.Ala586Val missense AHRR 328 81110 0.00404389 40555 1 0.0060423
5-434564-T-A p.Met592Lys missense AHRR 1 81362 1.22908E-5 40681 0 NA
5-434572-A-AAAACAG p.Glu597_Pro598insThrGlu disruptive_inframe_insertion AHRR 1 81328 1.22959E-5 40664 0 NA
5-434576-CAG-C p.Glu597fs frameshift AHRR 1 81356 1.22917E-5 40678 0 3.18735E-5
5-434581-C-G p.Pro598Ala missense AHRR 84 81236 0.00103402 40618 0 0.003125
5-434590-C-T p.Arg601Trp missense AHRR 2 81132 2.46512E-5 40566 0 6.25E-4
5-434591-G-A p.Arg601Gln missense AHRR 7 81062 8.63537E-5 40531 0 4.04204E-5
5-434599-G-C p.Val604Leu missense AHRR 3 81028 3.70242E-5 40514 0 3.18674E-5
5-434599-G-A p.Val604Met missense AHRR 1 81028 1.23414E-5 40514 0 8.71566E-6
5-434610-G-A p.Ser607Ser synonymous AHRR 1 80668 1.23965E-5 40334 0 2.71125E-5
5-434614-C-T p.Leu609Leu synonymous AHRR 1 80768 1.23811E-5 40384 0 NA
5-434622-C-T p.His611His synonymous AHRR 11 80446 1.36738E-4 40223 0 1.23469E-4
5-434623-G-A p.Gly612Ser missense AHRR 1 80426 1.24338E-5 40213 0 6.37267E-5
5-434629-C-T p.Arg614Trp missense AHRR 4 80164 4.98977E-5 40082 0 5.03525E-4
5-434629-C-CG p.Ala616fs frameshift AHRR 2 80164 2.49489E-5 40082 0 6.37471E-5
5-434630-G-C p.Arg614Pro missense AHRR 1 80242 1.24623E-5 40121 0 NA
5-434631-G-A p.Arg614Arg synonymous AHRR 5 80274 6.22867E-5 40137 0 1.01059E-5
5-434633-G-T p.Gly615Val missense AHRR 1 80170 1.24735E-5 40085 0 NA
5-434646-T-G p.His619Gln missense AHRR 1 80076 1.24881E-5 40038 0 6.37471E-5
5-434649-G-C p.Gly620Gly synonymous AHRR 1 80086 1.24866E-5 40043 0 NA
5-434651-G-A p.Arg621Lys missense AHRR 2 80074 2.49769E-5 40037 0 NA
5-434655-C-T p.Ala622Ala synonymous AHRR 1 80074 1.24884E-5 40037 0 NA
5-434662-G-A p.Gly625Arg missense AHRR 3 80080 3.74625E-5 40040 0 5.79257E-5
5-434665-C-T p.Arg626Cys missense AHRR 7 79996 8.75044E-5 39998 0 6.05636E-4
5-434675-A-C p.Glu629Ala missense AHRR 1 80134 1.24791E-5 40067 0 NA
5-434679-G-A p.Leu630Leu synonymous AHRR 3 80176 3.74177E-5 40088 0 9.69594E-6
5-434683-C-A p.Pro632Thr missense AHRR 2 80246 2.49234E-5 40123 0 NA
5-434684-C-T p.Pro632Leu missense AHRR 5 80262 6.2296E-5 40131 0 2.105E-5
5-434698-C-T p.His637Tyr missense AHRR 1 80418 1.2435E-5 40209 0 NA
5-434708-G-A p.Cys640Tyr missense AHRR 1 80516 1.24199E-5 40258 0 NA
5-434710-C-T p.Leu641Leu synonymous AHRR 1 80544 1.24156E-5 40272 0 NA
5-434722-G-C p.Asp645His missense AHRR 23404 79758 0.293438 39879 3886 0.337111
5-434722-GAC-CAT p.Asp645His missense AHRR 1 80602 1.24066E-5 40301 0 NA
5-434722-G-T p.Asp645Tyr missense AHRR 1 80602 1.24066E-5 40301 0 NA
5-434724-C-T p.Asp645Asp synonymous AHRR 3 80566 3.72366E-5 40283 0 1.11765E-4
5-434725-G-T p.Gly646Cys missense AHRR 1 80526 1.24183E-5 40263 0 NA
5-434737-T-C p.Ser650Pro missense AHRR 1 80622 1.24036E-5 40311 0 NA
5-434738-C-T p.Ser650Leu missense AHRR 2 80640 2.48016E-5 40320 0 3.62617E-5
5-434740-G-A p.Glu651Lys missense AHRR 1 80624 1.24033E-5 40312 0 4.81736E-5
5-434742-G-A p.Glu651Glu synonymous AHRR 31 80638 3.84434E-4 40319 0 0.00152905
5-434750-A-G p.His654Arg missense AHRR 30 80752 3.71508E-4 40376 0 0.00609756
5-434764-C-T p.Arg659Trp missense AHRR 2 80852 2.47366E-5 40426 0 3.18715E-5
5-434765-G-A p.Arg659Gln missense AHRR 5 80878 6.18215E-5 40439 0 4.28009E-5
5-434770-C-T p.Arg661* stop_gained AHRR 1 80838 1.23704E-5 40419 0 1.16719E-5
5-434776-G-A p.Glu663Lys missense AHRR 1 80990 1.23472E-5 40495 0 NA
5-434791-T-C p.Cys668Arg missense AHRR 1 81098 1.23308E-5 40549 0 9.55597E-5
5-434791-T-A p.Cys668Ser missense AHRR 1 81098 1.23308E-5 40549 0 1.12276E-5
5-434805-G-A p.Glu672Glu synonymous AHRR 1 81160 1.23213E-5 40580 0 NA
5-434809-G-A p.Ala674Thr missense AHRR 9 81130 1.10933E-4 40565 0 2.81622E-4
5-434825-G-A p.Arg679Gln missense AHRR 2 81220 2.46245E-5 40610 0 NA
5-434829-G-A p.Glu680Glu synonymous AHRR 8 81232 9.84834E-5 40616 0 4.77707E-4
5-434841-A-G p.Ser684Ser synonymous AHRR 1 81276 1.23038E-5 40638 0 NA
5-434843-C-T p.Pro685Leu missense AHRR 1 81298 1.23004E-5 40649 0 NA
5-434850-G-C p.Trp687Cys missense AHRR 1 81278 1.23035E-5 40639 0 NA
5-434853-T-A p.Ala688Ala synonymous AHRR 2 81308 2.45978E-5 40654 0 NA
5-434859-C-A p.His690Gln missense AHRR 1 81332 1.22953E-5 40666 0 NA
5-434869-A-G p.Met694Val missense AHRR 121 81314 0.00148806 40657 0 0.00203666
5-434875-C-T p.Pro696Ser missense AHRR 164 81264 0.00201811 40632 0 0.0041088
5-434878-G-A p.Gly697Arg missense AHRR 1 81272 1.23044E-5 40636 0 5.92888E-6
5-434906-C-T p.Thr706Met missense AHRR 5 80872 6.18261E-5 40436 0 5.00601E-5
5-434907-G-A p.Thr706Thr synonymous AHRR 1 80838 1.23704E-5 40419 0 5.00651E-5
5-434907-G-T p.Thr706Thr synonymous AHRR 1 80838 1.23704E-5 40419 0 NA
5-434910-G-C p.Leu707Leu synonymous AHRR 1 80896 1.23616E-5 40448 0 NA
5-434915-C-T p.Pro709Leu missense AHRR 3 81012 3.70316E-5 40506 0 1.01061E-4
5-434916-G-A p.Pro709Pro synonymous AHRR 2 80974 2.46993E-5 40487 0 0.00310559
5-434927-C-T p.Ser713Leu missense AHRR 3 80884 3.70902E-5 40442 0 5.49511E-5
5-434928-G-A p.Ser713Ser synonymous AHRR 7 80918 8.65073E-5 40459 0 1.09709E-4
5-434948-A-G p.Ter720Trpext*? stop_lost AHRR 1 80496 1.2423E-5 40248 0 NA
5-434949-G-T p.Ter720Tyrext*? stop_lost AHRR 2 80464 2.48558E-5 40232 0 3.18431E-5