View Validated Polymorphisms

Polymorphisms listed here are variants that have been observed in unaffected human population at frequency > 0.001 in at least one of the following databases: 1000G, gnomAD, or ESP6500.
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polymorphism = "validated"
Genomic Description (hg38) cDNA Description Protein Description Exon No Effect SNP Link gnomAD Link CLINVAR Link PubMed Source Databases
g.7678459del c.1-1865del p.? 1-intron NA 556714817 17-7581776-CT-C None None dbSNP150|gnomAD
g.7676944T>C c.1-350A>G p.? 1-intron NA 1288485987 17-7580262-T-C None None dbSNP151|gnomAD
g.7676939_7676940del c.1-346_1-345del p.? 1-intron NA 539718496 17-7580256-ATT-A None None dbSNP151|gnomAD
g.7676939del c.1-345del p.? 1-intron NA 34576726 17-7580256-AT-A None None dbSNP150|gnomAD|1000G
g.7668434T>G c.*1175A>C p.? 11-exon NA 78378222 17-7571752-T-G 35555 None flossies|1000G|gnomAD
g.7689792T>C c.1-13198A>G p.? 5'UTR NA 181313855 17-7593110-T-C None None dbSNP150|gnomAD|1000G
g.7689202T>C c.1-12608A>G p.? 5'UTR NA 17882137 17-7592520-T-C None None dbSNP150|gnomAD|1000G
g.7688237T>A c.1-11643A>T p.? 5'UTR NA 17882910 17-7591555-T-A None None dbSNP150|gnomAD|1000G
g.7688222T>C c.1-11628A>G p.? 5'UTR NA 1421314 17-7591540-T-C None None dbSNP150|gnomAD|1000G
g.7667753T>C c.*1856A>G p.? 3'UTR NA 17887200 17-7571071-T-C None None dbSNP150|gnomAD|1000G
g.7667660T>C c.*1949A>G p.? 3'UTR NA 17886760 17-7570978-T-C None None dbSNP150|gnomAD|1000G
g.7667551T>C c.*2058A>G p.? 3'UTR NA 17881556 17-7570869-T-C None None dbSNP150|gnomAD|1000G
g.7667260_7667261insA c.*2348_*2349insT p.? 3'UTR NA 34103303 17-7570578-T-TA None None dbSNP151|gnomAD
g.7667260_7667261insAA c.*2348_*2349insTT p.? 3'UTR NA 1264772987 17-7570578-T-TAA None None dbSNP151|gnomAD
g.7667259T>A c.*2350A>T p.? 3'UTR NA 73979529 17-7570577-T-A None None dbSNP150|gnomAD
g.7666871T>C c.*2738A>G p.? 3'UTR NA 9893249 17-7570189-T-C None None dbSNP150|gnomAD|1000G
g.7665973T>G c.*3636A>C p.? 3'UTR NA 116962948 17-7569291-T-G None None dbSNP150|gnomAD|1000G
g.7665828T>G c.*3781A>C p.? 3'UTR NA 186044215 17-7569146-T-G None None dbSNP150|gnomAD|1000G
g.7664734T>C c.*4875A>G p.? 3'UTR NA 60706951 17-7568052-T-C None None dbSNP150|gnomAD|1000G
g.7664630T>G c.*4979A>C p.? 3'UTR NA 549575011 None None None dbSNP150|1000G
g.7664416T>A c.*5193A>T p.? 3'UTR NA 572488097 17-7567734-T-A None None dbSNP150|gnomAD|1000G
g.7664408del c.*5201del p.? 3'UTR NA 1315158389 17-7567725-CT-C None None dbSNP151|gnomAD
g.7664359_7664360insTATC c.*5249_*5250insGATA p.? 3'UTR NA 1407205018 17-7567677-T-TTATC None None dbSNP151|gnomAD
g.7664359_7664360insTATCTATCTATCTATCTATCTATCTGTC c.*5249_*5250insGACAGATAGATAGATAGATAGATAGATA p.? 3'UTR NA 952065958 17-7567677-T-TTATCTATCTATCTATCTATCTATCTGTC None None gnomAD
g.7664122T>C c.*5487A>G p.? 3'UTR NA 150423780 17-7567440-T-C None None dbSNP150|gnomAD|1000G
g.7663009del c.*6600del p.? 3'UTR NA 78337160 17-7566326-CT-C None None dbSNP150|gnomAD|1000G
g.7662956T>G c.*6653A>C p.? 3'UTR NA 62062581 17-7566274-T-G None None dbSNP150|gnomAD|1000G
g.7662867del c.*6742del p.? 3'UTR NA 879319708 17-7566184-CT-C None None dbSNP150|gnomAD
g.7662482T>G c.*7127A>C p.? 3'UTR NA 116840070 17-7565800-T-G None None dbSNP150|gnomAD|1000G
g.7661842_7661844del c.*7765_*7767del p.? 3'UTR NA 144289006 17-7565159-ACCT-A None None dbSNP150|gnomAD|1000G
g.7686304del c.1-9710del p.? 1-intron NA 797011726 17-7589621-CT-C None None dbSNP150|gnomAD
g.7686194T>C c.1-9600A>G p.? 1-intron NA 193086249 17-7589512-T-C None None dbSNP150|gnomAD|1000G
g.7685870T>C c.1-9276A>G p.? 1-intron NA 17881545 17-7589188-T-C None None dbSNP150|gnomAD|1000G
g.7685459_7685460insN c.1-8866_1-8865insN p.? 1-intron NA 17883353 None None None None
g.7685457T>C c.1-8863A>G p.? 1-intron NA 544381283 17-7588775-T-C None None dbSNP150|gnomAD|1000G
g.7684681_7684682insA c.1-8088_1-8087insT p.? 1-intron NA 540739179 17-7587999-T-TA None None dbSNP150|gnomAD
g.7684658T>C c.1-8064A>G p.? 1-intron NA 574141000 17-7587976-T-C None None dbSNP150|gnomAD|1000G
g.7684581T>C c.1-7987A>G p.? 1-intron NA 17881035 17-7587899-T-C None None dbSNP150|gnomAD|1000G
g.7684415T>C c.1-7821A>G p.? 1-intron NA 76032029 17-7587733-T-C None None dbSNP150|gnomAD|1000G
g.7684156T>C c.1-7562A>G p.? 1-intron NA 187658938 17-7587474-T-C None None dbSNP150|gnomAD|1000G
g.7683862T>C c.1-7268A>G p.? 1-intron NA 11656607 17-7587180-T-C None None dbSNP150|gnomAD|1000G
g.7683800T>C c.1-7206A>G p.? 1-intron NA 190365671 17-7587118-T-C None None dbSNP150|gnomAD|1000G
g.7683105_7683108del c.1-6514_1-6511del p.? 1-intron NA 143394414 17-7586422-ATTTT-A None None dbSNP150|gnomAD
g.7683105del c.1-6511del p.? 1-intron NA 1214032258 17-7586422-AT-A None None dbSNP151|gnomAD
g.7682745T>C c.1-6151A>G p.? 1-intron NA 17886107 17-7586063-T-C None None dbSNP150|gnomAD|1000G
g.7682743T>C c.1-6149A>G p.? 1-intron NA 17881002 17-7586061-T-C None None dbSNP150|gnomAD|1000G
g.7682208_7682217del c.1-5623_1-5614del p.? 1-intron NA 1166221335 17-7585525-CTTTTTTTTTT-C None None dbSNP151|gnomAD
g.7682216T>C c.1-5622A>G p.? 1-intron NA 554341153 17-7585534-T-C None None dbSNP150|gnomAD|1000G
g.7682208_7682216del c.1-5622_1-5614del p.? 1-intron NA 1327155351 17-7585525-CTTTTTTTTT-C None None dbSNP151|gnomAD
g.7682208_7682215del c.1-5621_1-5614del p.? 1-intron NA 1207409853 17-7585525-CTTTTTTTT-C None None dbSNP151|gnomAD
g.7682215T>C c.1-5621A>G p.? 1-intron NA 1397666461 17-7585533-T-C None None dbSNP151|gnomAD
g.7682214T>C c.1-5620A>G p.? 1-intron NA 8068551 17-7585532-T-C None None dbSNP150|1000G|gnomAD
g.7682213T>C c.1-5619A>G p.? 1-intron NA 1411554570 17-7585531-T-C None None dbSNP151|gnomAD
g.7682208_7682209del c.1-5615_1-5614del p.? 1-intron NA 548057399 17-7585525-CTT-C None None dbSNP151|gnomAD
g.7682208del c.1-5614del p.? 1-intron NA 1390439745 17-7585525-CT-C None None dbSNP151|gnomAD
g.7681799del c.1-5205del p.? 1-intron NA 1443893130 17-7585116-CT-C None None dbSNP151|gnomAD
g.7681796T>C c.1-5202A>G p.? 1-intron NA 866792730 17-7585114-T-C None None dbSNP150|gnomAD
g.7681793_7681794del c.1-5200_1-5199del p.? 1-intron NA 139628695 17-7585110-CTT-C None None dbSNP150|gnomAD
g.7681738_7681739del c.1-5145_1-5144del p.? 1-intron NA 548969562 17-7585055-CCT-C None None dbSNP150|gnomAD|1000G
g.7681554T>C c.1-4960A>G p.? 1-intron NA 193018176 17-7584872-T-C None None dbSNP150|gnomAD|1000G
g.7681171_7681172del c.1-4578_1-4577del p.? 1-intron NA 1491284543 17-7584488-CTT-C None None dbSNP151|gnomAD
g.7681171del c.1-4577del p.? 1-intron NA 34199921 17-7584488-CT-C None None dbSNP150|gnomAD|1000G
g.7681082T>C c.1-4488A>G p.? 1-intron NA 11652704 17-7584400-T-C None None dbSNP150|gnomAD|1000G
g.7680528del c.1-3934del p.? 1-intron NA 1346276804 17-7583845-CT-C None None dbSNP151|gnomAD
g.7680497del c.1-3903del p.? 1-intron NA 34922547 17-7583814-CT-C None None dbSNP151|gnomAD
g.7680210_7680211insNNN c.1-3617_1-3616insNNN p.? 1-intron NA 5819163 None None None None
g.7680152T>C c.1-3558A>G p.? 1-intron NA 114646359 17-7583470-T-C None None dbSNP150|gnomAD|1000G
g.7679297_7679297del c.1-2703del p.? 1-intron NA None None None 17361558 None
g.7679292_7679293insNNN(AAAAT)n c.1-2698insNNN(AAAAT)n p.? 1-intron NA None None None 17361558 None
g.7679288_7679289insTTTTA c.1-2695_1-2694insTAAAA p.? 1-intron NA 779359991 17-7582606-T-TTTTTA None None dbSNP150|gnomAD
g.7679288_7679289insTTTTATTTTA c.1-2695_1-2694insTAAAATAAAA p.? 1-intron NA 779359991 17-7582606-T-TTTTTATTTTA None None dbSNP151|gnomAD
g.7679288_7679289insTTTTATTTTATTTTA c.1-2695_1-2694insTAAAATAAAATAAAA p.? 1-intron NA 779359991 17-7582606-T-TTTTTATTTTATTTTA None None dbSNP151|gnomAD
g.7678923_7678926del c.1-2332_1-2329del p.? 1-intron NA 529512849 17-7582240-GTTTT-G None None dbSNP150|gnomAD|1000G
g.7678923del c.1-2329del p.? 1-intron NA 1166315480 17-7582240-GT-G None None dbSNP151|gnomAD
g.7678824del c.1-2230del p.? 1-intron NA 1280982617 17-7582141-CT-C None None dbSNP151|gnomAD
g.7675394_7675396del c.376-160_376-158del p.? 4-intron other 141204613 17-7578711-CTTT-C None None dbSNP150|gnomAD
g.7674892T>C c.639A>G p.R213R 6-exon silent 1800372 17-7578210-T-C 43591 1923533 dbSNP150|gnomAD|flossies|1000G
g.7675454T>G c.376-218A>C p.? 4-intron intronic 563612371 None None None dbSNP150|1000G
g.7675394_7675398del c.376-162_376-158del p.? 4-intron intronic 1371919544 17-7578711-CTTTTT-C None None dbSNP151|gnomAD
g.7675394_7675397del c.376-161_376-158del p.? 4-intron intronic 754750418 17-7578711-CTTTT-C None None dbSNP150|gnomAD
g.7675397T>C c.376-161A>G p.? 4-intron intronic 75821853 17-7578715-T-C None None dbSNP150|gnomAD|1000G
g.7675394_7675395del c.376-159_376-158del p.? 4-intron intronic 796912487 17-7578711-CTT-C None None dbSNP150|gnomAD
g.7675337T>A c.376-101A>T p.? 4-intron intronic 145153611 17-7578655-T-A None None dbSNP150|gnomAD|1000G
g.7674361del c.673-71del p.? 6-intron intronic 752774596 17-7577678-CT-C None None dbSNP150|gnomAD
g.7672962T>A c.993+573A>T p.? 9-intron intronic 982690235 17-7576280-T-A None None dbSNP150|gnomAD
g.7672958del c.993+577del p.? 9-intron intronic 781465240 17-7576275-AT-A None None dbSNP150|gnomAD
g.7672958T>A c.993+577A>T p.? 9-intron intronic 60699444 17-7576276-T-A None None dbSNP150|gnomAD|1000G
g.7672946_7672947insA c.993+588_993+589insT p.? 9-intron intronic 1478779853 17-7576264-T-TA None None dbSNP151|gnomAD
g.7671359T>C c.994-644A>G p.? 9-intron intronic 374036485 None None None dbSNP150|1000G
g.7669904T>C c.1101-214A>G p.? 10-intron intronic 17886820 17-7573222-T-C None None dbSNP150|gnomAD|1000G
g.7674828T>C c.672+31A>G p.? 6-intron intronic 34949160 17-7578146-T-C 133420 24728327 dbSNP150|gnomAD|1000G
g.7670579T>A c.1100+30A>T p.? 10-intron intronic 17880847 17-7573897-T-A None None dbSNP150|gnomAD|1000G
g.7674797T>C c.672+62A>G p.? 6-intron intronic 1625895 17-7578115-T-C 256603 1684850 dbSNP150|gnomAD|1000G
g.7672246T>C c.993+1289A>G p.? 9-intron intronic 1642793 17-7575564-T-C None None dbSNP150|gnomAD|1000G
g.7675426_7675427del c.376-191_376-190del p.? 4-intron intronic 17880765 17-7578743-GCT-G None None dbSNP150|gnomAD|1000G
g.7671230T>C c.994-515A>G p.? 9-intron intronic 17884322 17-7574548-T-C None None dbSNP150|gnomAD|1000G
g.7676337_7676341del c.96+41_96+45del p.? 3-intron intronic 776639636 17-7579654-CCAGGT-C None None dbSNP150|gnomAD
g.7676326_7676341del c.96+41_96+56del p.? 3-intron intronic 59758982 17-7579643-CCCCCAGCCCTCCAGGT-C 440349 23412385 gnomAD|1000G
g.7678497G>A c.1-1903C>T p.? 1-intron NA 188169070 17-7581815-G-A None None dbSNP150|gnomAD|1000G
g.7678177G>A c.1-1583C>T p.? 1-intron NA 149071702 17-7581495-G-A None None dbSNP150|gnomAD|1000G
g.7677910G>A c.1-1316C>T p.? 1-intron NA 8078476 17-7581228-G-A None None dbSNP150|gnomAD|1000G
g.7677509G>A c.1-915C>T p.? 1-intron NA 189616033 17-7580827-G-A None None dbSNP150|gnomAD|1000G
g.7676963G>A c.1-369C>T p.? 1-intron NA 9894227 17-7580281-G-A None None dbSNP150|gnomAD|1000G
g.7676845G>C c.1-251C>G p.? 1-intron NA 369145461 None None None dbSNP150|1000G
g.7669504G>A c.*105C>T p.? 11-exon NA 35919705 17-7572822-G-A None None dbSNP150|gnomAD|1000G|flossies
g.7669200G>T c.*409C>A p.? 11-exon NA 191918079 17-7572518-G-T None None dbSNP150|gnomAD|flossies|1000G
g.7668996G>T c.*613C>A p.? 11-exon NA 17879353 17-7572314-G-T 325633 None dbSNP150|gnomAD|flossies|1000G
g.7668855G>A c.*754C>T p.? 11-exon NA 199729221 17-7572173-G-A 325629 None dbSNP150|gnomAD
g.7668836G>A c.*773C>T p.? 11-exon NA 200378797 17-7572154-G-A 325627 None dbSNP150|1000G|gnomAD
g.7668830G>A c.*779C>T p.? 11-exon NA 1007476737 17-7572148-G-A None None dbSNP150|gnomAD
g.7668539G>A c.*1070C>T p.? 11-exon NA 114831472 17-7571857-G-A 325620 None dbSNP150|gnomAD|1000G
g.7689462G>A c.1-12868C>T p.? 5'UTR NA 2287497 17-7592780-G-A None None dbSNP150|gnomAD|1000G
g.7688443G>A c.1-11849C>T p.? 5'UTR NA 17551150 17-7591761-G-A 369236 None dbSNP150|gnomAD|1000G
g.7688404G>C c.1-11810C>G p.? 5'UTR NA 17883670 17-7591722-G-C 369235 None dbSNP150|gnomAD|1000G
g.7688236G>A c.1-11642C>T p.? 5'UTR NA 17883184 17-7591554-G-A None None dbSNP150|gnomAD|1000G
g.7688162G>A c.1-11568C>T p.? 5'UTR NA 186185308 17-7591480-G-A None None dbSNP150|gnomAD|1000G
g.7687656G>C c.1-11062C>G p.? 5'UTR NA 184299271 17-7590974-G-C None None dbSNP150|gnomAD|1000G
g.7668134G>A c.*1475C>T p.? 3'UTR NA 1614984 17-7571452-G-A None None dbSNP150|gnomAD|1000G
g.7667706G>A c.*1903C>T p.? 3'UTR NA 17883532 17-7571024-G-A None None dbSNP150|gnomAD|1000G
g.7667638G>A c.*1971C>T p.? 3'UTR NA 17883048 17-7570956-G-A None None dbSNP150|gnomAD|1000G
g.7667630G>A c.*1979C>T p.? 3'UTR NA 138723011 17-7570948-G-A None None dbSNP150|gnomAD|1000G
g.7667560G>A c.*2049C>T p.? 3'UTR NA 12949853 17-7570878-G-A None None dbSNP150|gnomAD|1000G
g.7667505G>C c.*2104C>G p.? 3'UTR NA 9914052 17-7570823-G-C None None dbSNP150|gnomAD|1000G
g.7667054G>A c.*2555C>T p.? 3'UTR NA 368354579 17-7570372-G-A None None dbSNP150|gnomAD|1000G
g.7666850G>A c.*2759C>T p.? 3'UTR NA 17882212 17-7570168-G-A None None dbSNP150|gnomAD|1000G
g.7666816G>A c.*2793C>T p.? 3'UTR NA 370886766 17-7570134-G-A None None dbSNP150|gnomAD|1000G
g.7666806G>A c.*2803C>T p.? 3'UTR NA 17881402 17-7570124-G-A None None dbSNP150|gnomAD|1000G
g.7666421G>C c.*3188C>G p.? 3'UTR NA 146584089 17-7569739-G-C None None dbSNP150|gnomAD|1000G
g.7666224G>A c.*3385C>T p.? 3'UTR NA 74351250 17-7569542-G-A None None dbSNP150|gnomAD|1000G
g.7665660G>A c.*3949C>T p.? 3'UTR NA 370227832 17-7568978-G-A None None dbSNP150|gnomAD|1000G
g.7665378G>A c.*4231C>T p.? 3'UTR NA 375802474 17-7568696-G-A None None dbSNP150|gnomAD
g.7665378G>C c.*4231C>G p.? 3'UTR NA 375802474 17-7568696-G-C None None dbSNP151|gnomAD
g.7665310G>A c.*4299C>T p.? 3'UTR NA 117557561 17-7568628-G-A None None dbSNP150|gnomAD|1000G
g.7665125G>A c.*4484C>T p.? 3'UTR NA 140032142 17-7568443-G-A None None dbSNP150|gnomAD|1000G
g.7663783G>A c.*5826C>T p.? 3'UTR NA 9674869 17-7567101-G-A None None dbSNP150|gnomAD|1000G
g.7663707G>A c.*5902C>T p.? 3'UTR NA 192161036 17-7567025-G-A None None dbSNP150|gnomAD|1000G
g.7663578G>C c.*6031C>G p.? 3'UTR NA 148788890 17-7566896-G-C None None dbSNP150|gnomAD|1000G
g.7663544_7663548del c.*6061_*6065del p.? 3'UTR NA 368098733 17-7566861-AAAAAG-A None None dbSNP150|gnomAD|1000G
g.7663465G>A c.*6144C>T p.? 3'UTR NA 574133441 17-7566783-G-A None None dbSNP150|gnomAD|1000G
g.7663242G>A c.*6367C>T p.? 3'UTR NA 182569720 17-7566560-G-A None None dbSNP150|gnomAD|1000G
g.7663110G>A c.*6499C>T p.? 3'UTR NA 118051719 17-7566428-G-A None None dbSNP150|gnomAD|1000G
g.7662940G>C c.*6669C>G p.? 3'UTR NA 563131494 17-7566258-G-C None None dbSNP150|gnomAD|1000G
g.7662859G>T c.*6750C>A p.? 3'UTR NA 879941509 17-7566177-G-T None None dbSNP150|gnomAD
g.7662644G>T c.*6965C>A p.? 3'UTR NA 1308065452 17-7565962-G-T None None dbSNP151|gnomAD
g.7662019_7662020del c.*7589_*7590del p.? 3'UTR NA 756472945 17-7565336-AAG-A None None dbSNP150|gnomAD
g.7687092G>A c.1-10498C>T p.? 1-intron NA 55651612 17-7590410-G-A None None dbSNP150|gnomAD|1000G
g.7685993G>C c.1-9399C>G p.? 1-intron NA 8064946 17-7589311-G-C None None dbSNP150|gnomAD|1000G
g.7685729G>T c.1-9135C>A p.? 1-intron NA 17885988 17-7589047-G-T None None dbSNP150|1000G|gnomAD
g.7685638G>A c.1-9044C>T p.? 1-intron NA 17878400 17-7588956-G-A None None dbSNP150|gnomAD|1000G
g.7685443G>T c.1-8849C>A p.? 1-intron NA 574076243 17-7588761-G-T None None dbSNP150|gnomAD|1000G
g.7685432G>T c.1-8838C>A p.? 1-intron NA 17883687 17-7588750-G-T None None dbSNP150|gnomAD|1000G
g.7685412G>C c.1-8818C>G p.? 1-intron NA 533955235 17-7588730-G-C None None dbSNP150|gnomAD|1000G
g.7683763G>A c.1-7169C>T p.? 1-intron NA 62062585 17-7587081-G-A None None dbSNP150|gnomAD|1000G
g.7683522G>A c.1-6928C>T p.? 1-intron NA 544569940 17-7586840-G-A None None dbSNP150|gnomAD
g.7683421G>A c.1-6827C>T p.? 1-intron NA 17884387 17-7586739-G-A None None dbSNP150|gnomAD|1000G
g.7683332G>A c.1-6738C>T p.? 1-intron NA 183171181 17-7586650-G-A None None dbSNP150|gnomAD|1000G
g.7683153G>A c.1-6559C>T p.? 1-intron NA 191945441 17-7586471-G-A None None dbSNP150|gnomAD|1000G
g.7683063G>C c.1-6469C>G p.? 1-intron NA 17883925 17-7586381-G-C None None dbSNP150|gnomAD|1000G
g.7683050_7683051insC c.1-6457_1-6456insG p.? 1-intron NA 574271818 17-7586368-G-GC None None dbSNP150|gnomAD|1000G
g.7682537G>A c.1-5943C>T p.? 1-intron NA 185158874 17-7585855-G-A None None dbSNP150|gnomAD|1000G
g.7682230G>T c.1-5636C>A p.? 1-intron NA 1324709184 17-7585548-G-T None None dbSNP151|gnomAD
g.7682071G>C c.1-5477C>G p.? 1-intron NA 553709209 17-7585389-G-C None None dbSNP150|gnomAD|1000G
g.7681889G>A c.1-5295C>T p.? 1-intron NA 570181271 None None None dbSNP150|1000G
g.7681189del c.1-4595del p.? 1-intron NA 1289446588 17-7584506-TG-T None None dbSNP151|gnomAD
g.7681189G>T c.1-4595C>A p.? 1-intron NA 1387777214 17-7584507-G-T None None dbSNP151|gnomAD
g.7680956G>A c.1-4362C>T p.? 1-intron NA 112722792 17-7584274-G-A None None dbSNP150|gnomAD|1000G
g.7680948G>A c.1-4354C>T p.? 1-intron NA 11655922 17-7584266-G-A None None dbSNP150|gnomAD|1000G
g.7680801G>A c.1-4207C>T p.? 1-intron NA 150569760 17-7584119-G-A None None dbSNP150|gnomAD|1000G
g.7680714G>A c.1-4120C>T p.? 1-intron NA 12945970 17-7584032-G-A None None dbSNP150|gnomAD|1000G
g.7680571G>A c.1-3977C>T p.? 1-intron NA 143002701 17-7583889-G-A None None dbSNP150|gnomAD|1000G
g.7680543G>T c.1-3949C>A p.? 1-intron NA 79959593 17-7583861-G-T None None dbSNP150|gnomAD
g.7679909G>A c.1-3315C>T p.? 1-intron NA 17883373 17-7583227-G-A None None dbSNP150|gnomAD|1000G
g.7679868G>A c.1-3274C>T p.? 1-intron NA 532437594 17-7583186-G-A None None dbSNP150|gnomAD|1000G
g.7679802G>C c.1-3208C>G p.? 1-intron NA 144295313 17-7583120-G-C None None dbSNP150|gnomAD|1000G
g.7679765G>A c.1-3171C>T p.? 1-intron NA 2078486 17-7583083-G-A None None dbSNP150|gnomAD|1000G
g.7679160G>A c.1-2566C>T p.? 1-intron NA 538218781 17-7582478-G-A None None dbSNP150|gnomAD|1000G
g.7678938G>T c.1-2344C>A p.? 1-intron NA 1235663576 17-7582256-G-T None None dbSNP151|gnomAD
g.7678922_7678923insT c.1-2329_1-2328insA p.? 1-intron NA 575188915 17-7582240-G-GT None None dbSNP150|gnomAD
g.7675690G>A c.375+304C>T p.? 4-intron intronic 148535768 17-7579008-G-A None None dbSNP150|gnomAD|1000G
g.7674665del c.672+194del p.? 6-intron intronic 535243254 17-7577982-AG-A None None dbSNP150|gnomAD|1000G
g.7674390G>A c.673-100C>T p.? 6-intron intronic 183276131 17-7577708-G-A None None dbSNP150|gnomAD|1000G
g.7674377G>T c.673-87C>A p.? 6-intron intronic 1328534495 17-7577695-G-T None None dbSNP151|gnomAD
g.7673183G>A c.993+352C>T p.? 9-intron intronic 77697176 17-7576501-G-A None None dbSNP150|gnomAD|1000G
g.7673145G>A c.993+390C>T p.? 9-intron intronic 1375871549 17-7576463-G-A None None dbSNP151|gnomAD
g.7673057G>A c.993+478C>T p.? 9-intron intronic 563904209 17-7576375-G-A None None dbSNP150|gnomAD|1000G
g.7672826G>A c.993+709C>T p.? 9-intron intronic 576653882 17-7576144-G-A None None dbSNP150|gnomAD|1000G
g.7670997G>C c.994-282C>G p.? 9-intron intronic 17883852 17-7574315-G-C None None dbSNP150|gnomAD|1000G
g.7670455G>C c.1100+154C>G p.? 10-intron intronic 45599946 17-7573773-G-C None None dbSNP150|gnomAD|1000G
g.7670182G>A c.1100+427C>T p.? 10-intron intronic 184902382 17-7573500-G-A None None dbSNP150|gnomAD|1000G
g.7670066G>A c.1101-376C>T p.? 10-intron intronic 112847074 17-7573384-G-A None None dbSNP150|gnomAD|1000G
g.7676301G>T c.97-29C>A p.? 3-intron intronic 17883323 17-7579619-G-T 256604 None dbSNP150|gnomAD|1000G
g.7674109G>A c.782+72C>T p.? 7-intron intronic 12947788 17-7577427-G-A None 1679931 dbSNP150|gnomAD|1000G
g.7676483G>C c.74+38C>G p.? 2-intron intronic 1642785 17-7579801-G-C 137691 8168846 dbSNP150|gnomAD|1000G
g.7676278G>A c.97-6C>T p.? 3-intron intronic 35117667 17-7579596-G-A 220942 None dbSNP150|gnomAD|flossies|1000G
g.7674164G>A c.782+17C>T p.? 7-intron intronic 17880172 17-7577482-G-A 137692 None dbSNP150|gnomAD|1000G
g.7672833G>A c.993+702C>T p.? 9-intron intronic 1642792 17-7576151-G-A None None dbSNP150|gnomAD|1000G
g.7669739G>A c.1101-49C>T p.? 10-intron intronic 17881850 17-7573057-G-A None None dbSNP150|gnomAD|1000G
g.7676230G>A c.139C>T p.P47S 4-exon missense 1800371 17-7579548-G-A 43588 8352280 dbSNP150|gnomAD|flossies|1000G
g.7676154G>C c.215C>G p.P72R 4-exon missense 1042522 17-7579472-G-C 12351 7927335 dbSNP150|gnomAD|flossies|1000G
g.7678600C>T c.1-2006G>A p.? 1-intron NA 528846417 17-7581918-C-T None None dbSNP150|gnomAD|1000G
g.7678458_7678459insT c.1-1865_1-1864insA p.? 1-intron NA 886585627 17-7581776-C-CT None None dbSNP150|gnomAD
g.7678452del c.1-1858del p.? 1-intron NA 562992753 17-7581769-TC-T None None dbSNP150|gnomAD|1000G
g.7678449_7678452del c.1-1858_1-1855del p.? 1-intron NA 148232927 17-7581766-TTTTC-T None 19877175 dbSNP150|gnomAD|1000G
g.7678392C>T c.1-1798G>A p.? 1-intron NA 185308142 17-7581710-C-T None None dbSNP150|gnomAD|1000G
g.7677953C>T c.1-1359G>A p.? 1-intron NA 1794284 17-7581271-C-T None None dbSNP150|gnomAD|1000G
g.7677623C>T c.1-1029G>A p.? 1-intron NA 9897559 17-7580941-C-T None None dbSNP150|gnomAD|1000G
g.7677502C>T c.1-908G>A p.? 1-intron NA 568048433 17-7580820-C-T None None dbSNP150|gnomAD|1000G
g.7677182C>T c.1-588G>A p.? 1-intron NA 12944939 17-7580500-C-T None None dbSNP150|gnomAD|1000G
g.7677029C>T c.1-435G>A p.? 1-intron NA 147856400 17-7580347-C-T None None dbSNP150|gnomAD|1000G
g.7676965C>T c.1-371G>A p.? 1-intron NA 1175438657 17-7580283-C-T None None dbSNP151|gnomAD
g.7676799C>G c.1-205G>C p.? 1-intron NA 140699530 17-7580117-C-G None None dbSNP150|gnomAD|1000G
g.7676734C>T c.1-140G>A p.? 1-intron NA 8079544 17-7580052-C-T None None dbSNP150|gnomAD|1000G
g.7669404C>T c.*205G>A p.? 11-exon NA 16956880 17-7572722-C-T 325642 None dbSNP150|gnomAD|1000G
g.7669295C>T c.*314G>A p.? 11-exon NA 34486624 17-7572613-C-T None None dbSNP150|gnomAD|flossies|1000G
g.7669281C>T c.*328G>A p.? 11-exon NA 17881366 17-7572599-C-T None None dbSNP150|gnomAD|flossies|1000G
g.7669124C>T c.*485G>A p.? 11-exon NA 4968187 17-7572442-C-T 325637 None dbSNP150|gnomAD|flossies|1000G
g.7668783C>T c.*826G>A p.? 11-exon NA 17884306 17-7572101-C-T 325623 None dbSNP150|gnomAD|1000G
g.7689844C>G c.1-13250G>C p.? 5'UTR NA 34557119 17-7593162-C-G None None dbSNP150|gnomAD|1000G
g.7689817C>T c.1-13223G>A p.? 5'UTR NA 202093256 17-7593135-C-T None None dbSNP150|gnomAD|1000G
g.7689484C>T c.1-12890G>A p.? 5'UTR NA 17886268 17-7592802-C-T None None dbSNP150|gnomAD|1000G
g.7689442C>G c.1-12848G>C p.? 5'UTR NA 570571157 None None None dbSNP150|1000G
g.7689242C>T c.1-12648G>A p.? 5'UTR NA 2287498 17-7592560-C-T 261003 None dbSNP150|gnomAD|1000G
g.7689164C>T c.1-12570G>A p.? 5'UTR NA 17885803 17-7592482-C-T None None dbSNP150|gnomAD|1000G
g.7689094C>T c.1-12500G>A p.? 5'UTR NA 17880740 17-7592412-C-T 325653 None dbSNP150|gnomAD|1000G
g.7689055C>G c.1-12461G>C p.? 5'UTR NA 34067256 17-7592373-C-G 261002 None dbSNP150|gnomAD|1000G
g.7688850C>G c.1-12256G>C p.? 5'UTR NA 2287499 17-7592168-C-G 261001 None dbSNP150|gnomAD|1000G
g.7688679C>T c.1-12085G>A p.? 5'UTR NA 17880282 17-7591997-C-T 325650 None dbSNP150|gnomAD|1000G
g.7688511C>T c.1-11917G>A p.? 5'UTR NA 79199718 17-7591829-C-T 325648 None dbSNP150|gnomAD|1000G
g.7688193_7688194insGG c.1-11600_1-11599insCC p.? 5'UTR NA 17551157 17-7591511-C-CGG None None dbSNP151|gnomAD
g.7688193_7688194insNNNN c.1-11600_1-11599insNNNN p.? 5'UTR NA 17551157 None None None dbSNP151|1000G
g.7688003C>A c.1-11409G>T p.? 5'UTR NA 559159932 None None None dbSNP150|1000G
g.7687942C>T c.1-11348G>A p.? 5'UTR NA 17886079 17-7591260-C-T None None dbSNP150|gnomAD|1000G
g.7668388C>G c.*1221G>C p.? 3'UTR NA 17883782 17-7571706-C-G 369233 None dbSNP150|gnomAD|1000G
g.7668249C>T c.*1360G>A p.? 3'UTR NA 117562731 17-7571567-C-T None None dbSNP150|gnomAD|1000G
g.7667908C>A c.*1701G>T p.? 3'UTR NA 183153328 17-7571226-C-A 490169 None dbSNP150|gnomAD|1000G
g.7667611C>T c.*1998G>A p.? 3'UTR NA 4968204 17-7570929-C-T None None dbSNP150|gnomAD|1000G
g.7667061C>T c.*2548G>A p.? 3'UTR NA 17884318 17-7570379-C-T None None dbSNP150|gnomAD|1000G
g.7666663C>T c.*2946G>A p.? 3'UTR NA 17880839 17-7569981-C-T None None dbSNP150|gnomAD|1000G
g.7666656C>T c.*2953G>A p.? 3'UTR NA 17881045 17-7569974-C-T None None dbSNP150|gnomAD|1000G
g.7666465C>T c.*3144G>A p.? 3'UTR NA 141272226 17-7569783-C-T None None dbSNP150|gnomAD|1000G
g.7666228C>G c.*3381G>C p.? 3'UTR NA 144366923 17-7569546-C-G 133418 None dbSNP150|gnomAD|1000G
g.7666079C>T c.*3530G>A p.? 3'UTR NA 1474281006 17-7569397-C-T None None dbSNP151|gnomAD
g.7665791_7665792insAA c.*3817_*3818insTT p.? 3'UTR NA 145856812 17-7569109-C-CAA None None dbSNP151|gnomAD
g.7665791_7665792insA c.*3817_*3818insT p.? 3'UTR NA 145856812 17-7569109-C-CA None None dbSNP150|gnomAD|1000G
g.7665607C>T c.*4002G>A p.? 3'UTR NA 55745760 17-7568925-C-T None None dbSNP150|gnomAD|1000G
g.7665379_7665380insAA c.*4229_*4230insTT p.? 3'UTR NA 1491425290 17-7568697-C-CAA None None dbSNP151|gnomAD
g.7665379del c.*4230del p.? 3'UTR NA 1390368037 17-7568696-GC-G None None dbSNP151|gnomAD
g.7665379C>A c.*4230G>T p.? 3'UTR NA 1052506893 17-7568697-C-A None None dbSNP150|gnomAD
g.7665379_7665380insA c.*4229_*4230insT p.? 3'UTR NA 1491425290 17-7568697-C-CA None None dbSNP151|gnomAD
g.7665368_7665369insA c.*4240_*4241insT p.? 3'UTR NA 1176754579 17-7568686-C-CA None None dbSNP151|gnomAD
g.7665368C>A c.*4241G>T p.? 3'UTR NA 1251853003 17-7568686-C-A None None dbSNP151|gnomAD
g.7665309C>T c.*4300G>A p.? 3'UTR NA 373502928 17-7568627-C-T None None dbSNP150|1000G|gnomAD
g.7665009C>T c.*4600G>A p.? 3'UTR NA 72829457 17-7568327-C-T None None dbSNP150|gnomAD|1000G
g.7664889C>A c.*4720G>T p.? 3'UTR NA 147342519 17-7568207-C-A None None dbSNP150|gnomAD|1000G
g.7664709C>T c.*4900G>A p.? 3'UTR NA 147161837 17-7568027-C-T None None dbSNP150|gnomAD|1000G
g.7664644C>T c.*4965G>A p.? 3'UTR NA 567584325 17-7567962-C-T None None dbSNP150|gnomAD|1000G
g.7664584_7664585insTT c.*5024_*5025insAA p.? 3'UTR NA 34289020 17-7567902-C-CTT None None dbSNP151|gnomAD
g.7664584_7664585insT c.*5024_*5025insA p.? 3'UTR NA 34289020 17-7567902-C-CT None None dbSNP150|gnomAD|1000G
g.7664429_7664432del c.*5177_*5180del p.? 3'UTR NA 201537653 17-7567746-ATCTC-A None None dbSNP150|gnomAD
g.7664432C>A c.*5177G>T p.? 3'UTR NA 796984752 17-7567750-C-A None None dbSNP150|gnomAD
g.7664410_7664432del c.*5177_*5199del p.? 3'UTR NA 544585358 17-7567727-ATCTATCTATCATCTATCTATCTC-A None None gnomAD
g.7664414_7664432del c.*5177_*5195del p.? 3'UTR NA 976006383 17-7567731-ATCTATCATCTATCTATCTC-A None None gnomAD
g.7664418_7664432del c.*5177_*5191del p.? 3'UTR NA 1454553425 17-7567735-ATCATCTATCTATCTC-A None None dbSNP151|gnomAD
g.7664398_7664432del c.*5177_*5211del p.? 3'UTR NA 1450016242 17-7567715-ATCTATCTATCTATCTATCTATCATCTATCTATCTC-A None None dbSNP151|gnomAD
g.7664402_7664432del c.*5177_*5207del p.? 3'UTR NA 775651611 17-7567719-ATCTATCTATCTATCTATCATCTATCTATCTC-A None None dbSNP151|gnomAD
g.7664417_7664419del c.*5190_*5192del p.? 3'UTR NA 768579604 17-7567734-TATC-T None None dbSNP150|gnomAD
g.7664419_7664420insN c.*5189_*5190insN p.? 3'UTR NA 369980720 None None None dbSNP150|1000G
g.7664385_7664419del c.*5190_*5224del p.? 3'UTR NA 1344401908 17-7567702-TATCTATCTATCTATCTATCTATCTATCTATCTATC-T None None dbSNP151|gnomAD
g.7664389_7664419del c.*5190_*5220del p.? 3'UTR NA 1273491881 17-7567706-TATCTATCTATCTATCTATCTATCTATCTATC-T None None dbSNP151|gnomAD
g.7664393_7664419del c.*5190_*5216del p.? 3'UTR NA 1344903661 17-7567710-TATCTATCTATCTATCTATCTATCTATC-T None None dbSNP151|gnomAD
g.7664403C>T c.*5206G>A p.? 3'UTR NA 574008098 None None None dbSNP150|1000G
g.7664360_7664375del c.*5234_*5249del p.? 3'UTR NA 1206406189 17-7567677-TTATCTATCTATCTATC-T None None dbSNP151|gnomAD
g.7664360_7664371del c.*5238_*5249del p.? 3'UTR NA 745841363 17-7567677-TTATCTATCTATC-T None None dbSNP150|gnomAD
g.7664360_7664367del c.*5242_*5249del p.? 3'UTR NA 201905420 17-7567677-TTATCTATC-T None None dbSNP150|gnomAD
g.7664365_7664367del c.*5242_*5244del p.? 3'UTR NA 879335448 17-7567682-TATC-T None None dbSNP150|gnomAD
g.7664363del c.*5246del p.? 3'UTR NA 879847468 17-7567680-TC-T None None dbSNP150|gnomAD
g.7664363C>T c.*5246G>A p.? 3'UTR NA 113440791 17-7567681-C-T None None dbSNP150|1000G|gnomAD
g.7664360_7664363del c.*5246_*5249del p.? 3'UTR NA 572844427 17-7567677-TTATC-T None None dbSNP151|gnomAD
g.7664197C>T c.*5412G>A p.? 3'UTR NA 35119871 17-7567515-C-T None None dbSNP150|gnomAD|1000G
g.7663384del c.*6225del p.? 3'UTR NA 567057195 17-7566701-AC-A None None dbSNP150|gnomAD|1000G
g.7662919C>T c.*6690G>A p.? 3'UTR NA 114907031 17-7566237-C-T None None dbSNP150|gnomAD|1000G
g.7662878C>A c.*6731G>T p.? 3'UTR NA 879705961 17-7566196-C-A None None dbSNP150|gnomAD
g.7662875C>T c.*6734G>A p.? 3'UTR NA 879900133 17-7566193-C-T None None dbSNP150|gnomAD
g.7662868C>A c.*6741G>T p.? 3'UTR NA 879737159 17-7566186-C-A None None dbSNP150|gnomAD
g.7662034C>A c.*7575G>T p.? 3'UTR NA 140272752 17-7565352-C-A None None dbSNP150|gnomAD|1000G
g.7687229C>T c.1-10635G>A p.? 1-intron NA 17886250 17-7590547-C-T None None dbSNP150|gnomAD|1000G
g.7686387C>T c.1-9793G>A p.? 1-intron NA 191740863 17-7589705-C-T None None dbSNP150|gnomAD|1000G
g.7686303_7686304insT c.1-9710_1-9709insA p.? 1-intron NA 369318275 17-7589621-C-CT None None dbSNP151|gnomAD
g.7686136C>T c.1-9542G>A p.? 1-intron NA 146230720 17-7589454-C-T None None dbSNP150|gnomAD|1000G
g.7685362del c.1-8768del p.? 1-intron NA 17882854 17-7588679-GC-G None None dbSNP150|gnomAD|1000G
g.7684875C>A c.1-8281G>T p.? 1-intron NA 149545512 17-7588193-C-A None None dbSNP150|gnomAD|1000G
g.7683931C>T c.1-7337G>A p.? 1-intron NA 139152287 17-7587249-C-T None None dbSNP150|gnomAD|1000G
g.7683718_7683719insT c.1-7125_1-7124insA p.? 1-intron NA 201000503 17-7587036-C-CT None None dbSNP150|gnomAD
g.7683476C>T c.1-6882G>A p.? 1-intron NA 570232787 None None None dbSNP150|1000G
g.7683062C>T c.1-6468G>A p.? 1-intron NA 541850520 17-7586380-C-T None None dbSNP150|gnomAD|1000G
g.7683040C>T c.1-6446G>A p.? 1-intron NA 148158283 17-7586358-C-T None 19877175 dbSNP150|gnomAD|1000G
g.7682761C>A c.1-6167G>T p.? 1-intron NA 17881789 17-7586079-C-A None None dbSNP150|gnomAD|1000G
g.7682207_7682208insT c.1-5614_1-5613insA p.? 1-intron NA 1466548956 17-7585525-C-CT None None dbSNP151|gnomAD
g.7682044C>T c.1-5450G>A p.? 1-intron NA 146701070 17-7585362-C-T None None dbSNP150|gnomAD|1000G
g.7681918C>T c.1-5324G>A p.? 1-intron NA 188709599 17-7585236-C-T None None dbSNP150|gnomAD|1000G
g.7681798_7681799insT c.1-5205_1-5204insA p.? 1-intron NA 367940585 17-7585116-C-CT None None dbSNP150|gnomAD
g.7681798del c.1-5204del p.? 1-intron NA 200656663 17-7585115-TC-T None None dbSNP150|gnomAD
g.7681798_7681799insTT c.1-5205_1-5204insAA p.? 1-intron NA 367940585 17-7585116-C-CTT None None dbSNP151|gnomAD
g.7681170_7681171insT c.1-4577_1-4576insA p.? 1-intron NA 1445253612 17-7584488-C-CT None None dbSNP151|gnomAD
g.7681170_7681171insTT c.1-4577_1-4576insAA p.? 1-intron NA 1445253612 17-7584488-C-CTT None None dbSNP151|gnomAD
g.7680776C>T c.1-4182G>A p.? 1-intron NA 559257856 17-7584094-C-T None None dbSNP150|gnomAD|1000G
g.7680585C>G c.1-3991G>C p.? 1-intron NA 11869968 17-7583903-C-G None None dbSNP150|gnomAD|1000G
g.7680579C>T c.1-3985G>A p.? 1-intron NA 186708994 17-7583897-C-T None None dbSNP150|gnomAD|1000G
g.7680527_7680528insT c.1-3934_1-3933insA p.? 1-intron NA 112634888 17-7583845-C-CT None None dbSNP150|gnomAD|1000G
g.7680527_7680528insTT c.1-3934_1-3933insAA p.? 1-intron NA 112634888 17-7583845-C-CTT None None dbSNP151|gnomAD
g.7680496_7680497insT c.1-3903_1-3902insA p.? 1-intron NA 71387982 17-7583814-C-CT None None dbSNP150|gnomAD
g.7679695C>G c.1-3101G>C p.? 1-intron NA 12602273 17-7583013-C-G None None dbSNP150|gnomAD|1000G
g.7679592C>T c.1-2998G>A p.? 1-intron NA 17880541 17-7582910-C-T None None dbSNP150|gnomAD|1000G
g.7679401_7679402insNNN c.1-2808_1-2807insNNN p.? 1-intron NA 17886028 None None None None
g.7679159C>T c.1-2565G>A p.? 1-intron NA 17886508 17-7582477-C-T None None dbSNP150|gnomAD|1000G
g.7678986C>T c.1-2392G>A p.? 1-intron NA 192049808 17-7582304-C-T None None dbSNP150|gnomAD|1000G
g.7678823_7678824insT c.1-2230_1-2229insA p.? 1-intron NA 764484924 17-7582141-C-CT None None dbSNP150|gnomAD
g.7678823_7678824insTTT c.1-2230_1-2229insAAA p.? 1-intron NA 764484924 17-7582141-C-CTTT None None dbSNP151|gnomAD
g.7676261C>T c.108G>A p.P36P 4-exon silent 1800370 17-7579579-C-T 132708 8302598 dbSNP150|gnomAD|flossies|1000G
g.7676324_7676334del c.96+48_96+58del p.? 3-intron intronic 779035812 17-7579641-GCCCCCCAGCCC-G None None dbSNP150|gnomAD
g.7676324C>T c.96+58G>A p.? 3-intron intronic 540683791 None None None dbSNP150|1000G
g.7675504C>T c.376-268G>A p.? 4-intron intronic 142163094 17-7578822-C-T None None dbSNP150|gnomAD|1000G
g.7674459C>T c.672+400G>A p.? 6-intron intronic 187553272 17-7577777-C-T None None dbSNP150|gnomAD|1000G
g.7674447C>G c.672+412G>C p.? 6-intron intronic 535242956 17-7577765-C-G None None dbSNP150|gnomAD|1000G
g.7674391C>T c.673-101G>A p.? 6-intron intronic 143536546 17-7577709-C-T None None dbSNP150|gnomAD|1000G
g.7674360_7674361insT c.673-71_673-70insA p.? 6-intron intronic 1167886601 17-7577678-C-CT None None dbSNP151|gnomAD
g.7673394C>T c.993+141G>A p.? 9-intron intronic 371592265 17-7576712-C-T 224042 None dbSNP150|gnomAD|1000G
g.7673125_7673126insA c.993+409_993+410insT p.? 9-intron intronic 772614038 17-7576443-C-CA None None dbSNP150|gnomAD
g.7673125C>A c.993+410G>T p.? 9-intron intronic 866365189 17-7576443-C-A None None dbSNP150|gnomAD
g.7673125_7673126insAA c.993+409_993+410insTT p.? 9-intron intronic 34308401 17-7576443-C-CAA None None dbSNP151|gnomAD
g.7673125_7673126insAAA c.993+409_993+410insTTT p.? 9-intron intronic 34308401 17-7576443-C-CAAA None None dbSNP151|gnomAD
g.7673125_7673126insAAAAA c.993+409_993+410insTTTTT p.? 9-intron intronic 772614038 17-7576443-C-CAAAAA None None dbSNP151|gnomAD
g.7673039C>T c.993+496G>A p.? 9-intron intronic 139290680 17-7576357-C-T None None dbSNP150|gnomAD|1000G
g.7673030C>T c.993+505G>A p.? 9-intron intronic 75732100 17-7576348-C-T None None dbSNP150|gnomAD|1000G
g.7672196C>T c.993+1339G>A p.? 9-intron intronic 146137066 17-7575514-C-T None None dbSNP150|gnomAD|1000G
g.7670065C>T c.1101-375G>A p.? 10-intron intronic 59098034 17-7573383-C-T None None dbSNP150|gnomAD|1000G
g.7669778C>T c.1101-88G>A p.? 10-intron intronic 145723145 17-7573096-C-T None None dbSNP150|gnomAD|1000G
g.7674841C>G c.672+18G>C p.? 6-intron intronic 199578278 17-7578159-C-G 182947 None dbSNP150|gnomAD|1000G
g.7674326C>G c.673-36G>C p.? 6-intron intronic 17880604 17-7577644-C-G 221184 9434876 dbSNP150|gnomAD|1000G
g.7675327C>T c.376-91G>A p.? 4-intron intronic 2909430 17-7578645-C-T 440348 None dbSNP150|gnomAD|1000G
g.7671546C>T c.994-831G>A p.? 9-intron intronic 9891744 17-7574864-C-T None None dbSNP150|gnomAD|1000G
g.7671461C>T c.994-746G>A p.? 9-intron intronic 1641548 17-7574779-C-T None None dbSNP150|gnomAD|1000G
g.7671457C>T c.994-742G>A p.? 9-intron intronic 1641549 17-7574775-C-T None None dbSNP150|gnomAD|1000G
g.7675353C>T c.376-117G>A p.? 4-intron intronic 35850753 17-7578671-C-T None None dbSNP150|gnomAD|1000G
g.7671618C>T c.994-903G>A p.? 9-intron intronic 858528 17-7574936-C-T None None dbSNP150|gnomAD|1000G
g.7671403C>T c.994-688G>A p.? 9-intron intronic 17879377 17-7574721-C-T None None dbSNP150|gnomAD|1000G
g.7670131C>T c.1101-441G>A p.? 10-intron intronic 17881097 17-7573449-C-T None None dbSNP150|gnomAD|1000G
g.7669911C>T c.1101-221G>A p.? 10-intron intronic 6503048 17-7573229-C-T None None dbSNP150|gnomAD|1000G
g.7674811C>T c.672+48G>A p.? 6-intron intronic 17884607 17-7578129-C-T None None dbSNP150|gnomAD|1000G
g.7674639C>A c.672+220G>T p.? 6-intron intronic 8069054 17-7577957-C-A None None dbSNP150|gnomAD|1000G
g.7669763C>G c.1101-73G>C p.? 10-intron intronic 17883043 17-7573081-C-G None None dbSNP150|gnomAD|1000G
g.7676387C>T c.91G>A p.V31I 3-exon missense 201753350 17-7579705-C-T 127827 24728327 dbSNP150|gnomAD|1000G
g.7678039A>G c.1-1445T>C p.? 1-intron NA 375751914 17-7581357-A-G None None dbSNP150|gnomAD|1000G
g.7677806A>G c.1-1212T>C p.? 1-intron NA 1642782 17-7581124-A-G None None dbSNP150|gnomAD|1000G
g.7677801A>C c.1-1207T>G p.? 1-intron NA 139717912 17-7581119-A-C None None dbSNP150|gnomAD|1000G
g.7677724A>G c.1-1130T>C p.? 1-intron NA 113451673 17-7581042-A-G None None dbSNP150|gnomAD|1000G
g.7668837_7668838del c.*771_*772del p.? 11-exon NA 1414526840 17-7572154-GAA-G None None dbSNP151|gnomAD
g.7668837del c.*772del p.? 11-exon NA 200757381 17-7572154-GA-G 325628 None dbSNP150|gnomAD
g.7668317A>T c.*1292T>A p.? 3'UTR NA 17884947 17-7571635-A-T None None dbSNP150|gnomAD|1000G
g.7667762A>G c.*1847T>C p.? 3'UTR NA 9894946 17-7571080-A-G None None dbSNP150|gnomAD|1000G
g.7667677A>G c.*1932T>C p.? 3'UTR NA 191005981 17-7570995-A-G None None dbSNP150|gnomAD|1000G
g.7667612A>G c.*1997T>C p.? 3'UTR NA 4968186 17-7570930-A-G None None dbSNP150|gnomAD|1000G
g.7667261del c.*2348del p.? 3'UTR NA 34569991 17-7570578-TA-T None None dbSNP150|gnomAD|1000G
g.7667261A>T c.*2348T>A p.? 3'UTR NA 73979530 17-7570579-A-T None None dbSNP150|gnomAD
g.7666998A>G c.*2611T>C p.? 3'UTR NA 17884512 17-7570316-A-G None None dbSNP150|gnomAD|1000G
g.7666380A>C c.*3229T>G p.? 3'UTR NA 8073498 17-7569698-A-C None None dbSNP150|gnomAD|1000G
g.7665394_7665395insG c.*4214_*4215insC p.? 3'UTR NA 200940122 17-7568712-A-AG None None dbSNP150|gnomAD
g.7665394A>G c.*4215T>C p.? 3'UTR NA 201214141 17-7568712-A-G None None dbSNP150|gnomAD|1000G
g.7665380_7665382del c.*4227_*4229del p.? 3'UTR NA 1288954720 17-7568697-CAAA-C None None dbSNP151|gnomAD
g.7665380_7665381del c.*4228_*4229del p.? 3'UTR NA 67602984 17-7568697-CAA-C None None dbSNP151|gnomAD
g.7665380del c.*4229del p.? 3'UTR NA 1158985689 17-7568697-CA-C None None dbSNP151|gnomAD
g.7665038A>G c.*4571T>C p.? 3'UTR NA 115425250 17-7568356-A-G None None dbSNP150|gnomAD|1000G
g.7664456_7664459del c.*5150_*5153del p.? 3'UTR NA 375711708 17-7567773-CTCTA-C None None dbSNP150|gnomAD|1000G
g.7664409A>C c.*5200T>G p.? 3'UTR NA 544585358 17-7567727-A-C None None dbSNP150|gnomAD|1000G
g.7664385A>G c.*5224T>C p.? 3'UTR NA 12940247 17-7567703-A-G None None dbSNP150|1000G|gnomAD
g.7664381_7664382insTCTG c.*5227_*5228insCAGA p.? 3'UTR NA 1264676041 17-7567699-A-ATCTG None None dbSNP151|gnomAD
g.7664377_7664378insTCTATCTG c.*5231_*5232insCAGATAGA p.? 3'UTR NA 780808550 17-7567695-A-ATCTATCTG None None dbSNP150|gnomAD
g.7664373_7664374insTCTATCTATCTG c.*5235_*5236insCAGATAGATAGA p.? 3'UTR NA 766473406 17-7567691-A-ATCTATCTATCTG None None dbSNP150|gnomAD
g.7664373_7664374insTCTATCTATCTATCTG c.*5235_*5236insCAGATAGATAGATAGA p.? 3'UTR NA 766473406 17-7567691-A-ATCTATCTATCTATCTG None None gnomAD
g.7664369_7664370insTCTATCTATCTATCTG c.*5239_*5240insCAGATAGATAGATAGA p.? 3'UTR NA 1555523078 17-7567687-A-ATCTATCTATCTATCTG None None dbSNP151|gnomAD
g.7664365_7664366insTCTATCTATCTATCTATCTATCTG c.*5243_*5244insCAGATAGATAGATAGATAGATAGA p.? 3'UTR NA 773392351 17-7567683-A-ATCTATCTATCTATCTATCTATCTG None None gnomAD
g.7664365_7664366insTCTATCTATCTATCTATCTG c.*5243_*5244insCAGATAGATAGATAGATAGA p.? 3'UTR NA 773392351 17-7567683-A-ATCTATCTATCTATCTATCTG None None dbSNP151|gnomAD
g.7664361_7664362insTCTATCTATCTATCTATCTATCTG c.*5247_*5248insCAGATAGATAGATAGATAGATAGA p.? 3'UTR NA 748660166 17-7567679-A-ATCTATCTATCTATCTATCTATCTG None None dbSNP150|gnomAD
g.7664361_7664362insTCTATCTATCTATCTATCTATCTATCTG c.*5247_*5248insCAGATAGATAGATAGATAGATAGATAGA p.? 3'UTR NA 748660166 17-7567679-A-ATCTATCTATCTATCTATCTATCTATCTG None None gnomAD
g.7664361_7664362insTCTG c.*5247_*5248insCAGA p.? 3'UTR NA 1555523075 17-7567679-A-ATCTG None None dbSNP151|gnomAD
g.7664358_7664359insTTAT c.*5250_*5251insATAA p.? 3'UTR NA 374265715 17-7567676-A-ATTAT None None dbSNP150|gnomAD
g.7663661A>G c.*5948T>C p.? 3'UTR NA 9674772 17-7566979-A-G None None dbSNP150|gnomAD|1000G
g.7663628_7663631del c.*5978_*5981del p.? 3'UTR NA 200145124 17-7566945-GTTTA-G None None dbSNP150|gnomAD
g.7663413A>C c.*6196T>G p.? 3'UTR NA 538627695 17-7566731-A-C None None dbSNP150|gnomAD|1000G
g.7663127_7663156del c.*6453_*6482del p.? 3'UTR NA 151205927 17-7566444-GTATATATATAATATATATAATATAATATAA-G None None dbSNP151|gnomAD
g.7663148_7663150del c.*6459_*6461del p.? 3'UTR NA 67905980 17-7566465-TATA-T None None dbSNP150|gnomAD
g.7663145_7663146del c.*6463_*6464del p.? 3'UTR NA 33975564 17-7566462-TAA-T None None dbSNP150|gnomAD
g.7663145A>T c.*6464T>A p.? 3'UTR NA 2541013 17-7566463-A-T None None dbSNP150|gnomAD
g.7662876A>G c.*6733T>C p.? 3'UTR NA 879284885 17-7566194-A-G None None dbSNP150|gnomAD
g.7662860A>G c.*6749T>C p.? 3'UTR NA 879324481 17-7566178-A-G None None dbSNP150|gnomAD
g.7662815A>G c.*6794T>C p.? 3'UTR NA 12600850 17-7566133-A-G None None dbSNP150|gnomAD|1000G
g.7662363A>G c.*7246T>C p.? 3'UTR NA 78496430 17-7565681-A-G None None dbSNP150|gnomAD|1000G
g.7687141A>G c.1-10547T>C p.? 1-intron NA 17883908 17-7590459-A-G None None dbSNP150|gnomAD|1000G
g.7686806A>G c.1-10212T>C p.? 1-intron NA 9905505 17-7590124-A-G None None dbSNP150|gnomAD|1000G
g.7685242A>G c.1-8648T>C p.? 1-intron NA 17882227 17-7588560-A-G None None dbSNP150|gnomAD|1000G
g.7685152A>T c.1-8558T>A p.? 1-intron NA 17885845 17-7588470-A-T None None dbSNP150|gnomAD|1000G
g.7684796A>G c.1-8202T>C p.? 1-intron NA 138131659 17-7588114-A-G None 19877175 dbSNP150|gnomAD|1000G
g.7684688A>C c.1-8094T>G p.? 1-intron NA 9903378 17-7588006-A-C None None dbSNP150|gnomAD|1000G
g.7684682del c.1-8088del p.? 1-intron NA 1178733709 17-7587999-TA-T None None dbSNP151|gnomAD
g.7684369A>G c.1-7775T>C p.? 1-intron NA 76923748 17-7587687-A-G None None dbSNP150|gnomAD|1000G
g.7683471A>G c.1-6877T>C p.? 1-intron NA 17880340 17-7586789-A-G None None dbSNP150|gnomAD|1000G
g.7683104_7683105insT c.1-6511_1-6510insA p.? 1-intron NA 1419788856 17-7586422-A-AT None None dbSNP151|gnomAD
g.7683104_7683105insTT c.1-6511_1-6510insAA p.? 1-intron NA 1419788856 17-7586422-A-ATT None None dbSNP151|gnomAD
g.7682762A>G c.1-6168T>C p.? 1-intron NA 17880658 17-7586080-A-G None None dbSNP150|gnomAD|1000G
g.7682231A>T c.1-5637T>A p.? 1-intron NA 1226983195 17-7585549-A-T None None dbSNP151|gnomAD
g.7681197A>G c.1-4603T>C p.? 1-intron NA 35175270 17-7584515-A-G None None dbSNP150|gnomAD|1000G
g.7681190A>T c.1-4596T>A p.? 1-intron NA 1237113403 17-7584508-A-T None None dbSNP151|gnomAD
g.7681156A>T c.1-4562T>A p.? 1-intron NA 906364395 17-7584474-A-T None None dbSNP150|gnomAD
g.7680879A>G c.1-4285T>C p.? 1-intron NA 139560719 17-7584197-A-G None None dbSNP150|gnomAD|1000G
g.7680524A>T c.1-3930T>A p.? 1-intron NA 1053101327 17-7583842-A-T None None dbSNP151|gnomAD
g.7679880A>G c.1-3286T>C p.? 1-intron NA 34766441 17-7583198-A-G None None dbSNP150|gnomAD|1000G
g.7679754A>G c.1-3160T>C p.? 1-intron NA 17882863 17-7583072-A-G None None dbSNP150|gnomAD|1000G
g.7679556A>G c.1-2962T>C p.? 1-intron NA 12603869 17-7582874-A-G None None dbSNP150|gnomAD|1000G
g.7679289_7679303del c.1-2709_1-2695del p.? 1-intron NA 1484977650 17-7582606-TTTTTATTTTATTTTA-T None None dbSNP151|gnomAD
g.7679289_7679298del c.1-2704_1-2695del p.? 1-intron NA 71159521 17-7582606-TTTTTATTTTA-T None None dbSNP151|gnomAD
g.7679289_7679293del c.1-2699_1-2695del p.? 1-intron NA 374154934 17-7582606-TTTTTA-T None None dbSNP150|gnomAD|1000G
g.7675763A>G c.375+231T>C p.? 4-intron intronic 192748321 17-7579081-A-G None None dbSNP150|gnomAD|1000G
g.7674525_7674526insT c.672+333_672+334insA p.? 6-intron intronic 539331761 17-7577843-A-AT None None dbSNP150|gnomAD|1000G
g.7673126del c.993+409del p.? 9-intron intronic 1334090742 17-7576443-CA-C None None dbSNP151|gnomAD
g.7672971A>G c.993+564T>C p.? 9-intron intronic 142074865 17-7576289-A-G None None dbSNP150|gnomAD|1000G
g.7672947_7672948del c.993+587_993+588del p.? 9-intron intronic 796129859 17-7576264-TAA-T None None dbSNP150|gnomAD
g.7672947del c.993+588del p.? 9-intron intronic 796129859 17-7576264-TA-T None None dbSNP150|gnomAD
g.7672395A>T c.993+1140T>A p.? 9-intron intronic 111537395 17-7575713-A-T None None dbSNP150|gnomAD|1000G
g.7672315A>G c.993+1220T>C p.? 9-intron intronic 577924025 17-7575633-A-G None None dbSNP150|gnomAD|1000G
g.7671805A>G c.993+1730T>C p.? 9-intron intronic 542931290 17-7575123-A-G None None dbSNP150|gnomAD|1000G
g.7669890A>G c.1101-200T>C p.? 10-intron intronic 576983083 17-7573208-A-G None None dbSNP150|gnomAD|1000G
g.7673523A>G c.993+12T>C p.? 9-intron intronic 1800899 17-7576841-A-G 93325 10508562 dbSNP150|gnomAD|1000G
g.7675519A>G c.376-283T>C p.? 4-intron intronic 1794287 17-7578837-A-G None None dbSNP150|gnomAD|1000G
g.7675361A>G c.376-125T>C p.? 4-intron intronic 9895829 17-7578679-A-G None None dbSNP150|gnomAD|1000G
g.7674089A>C c.782+92T>G p.? 7-intron intronic 12951053 17-7577407-A-C None 11682637 dbSNP150|gnomAD|1000G
g.7675322A>G c.376-86T>C p.? 4-intron intronic 113530090 17-7578640-A-G None None dbSNP150|gnomAD|1000G
g.7672415A>G c.993+1120T>C p.? 9-intron intronic 12949655 17-7575733-A-G None None dbSNP150|gnomAD|1000G
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