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.
| Genomic Description (hg38) | cDNA Description | Protein Description | Exon No | Effect | SNP Link | gnomAD Link | CLINVAR Link | PubMed | Source Databases |
|---|---|---|---|---|---|---|---|---|---|
| g.7669504G>A | c.*105C>T | p.? | 11-exon | NA | 35919705 | 17-7572822-G-A | None | dbSNP150|gnomAD|1000G|flossies | |
| g.7669404C>T | c.*205G>A | p.? | 11-exon | NA | 16956880 | 17-7572722-C-T | 325642 | dbSNP150|gnomAD|1000G | |
| g.7669295C>T | c.*314G>A | p.? | 11-exon | NA | 34486624 | 17-7572613-C-T | None | dbSNP150|gnomAD|flossies|1000G | |
| g.7669281C>T | c.*328G>A | p.? | 11-exon | NA | 17881366 | 17-7572599-C-T | 891534 | dbSNP150|gnomAD|flossies|1000G | |
| g.7669200G>T | c.*409C>A | p.? | 11-exon | NA | 191918079 | 17-7572518-G-T | 891532 | dbSNP150|gnomAD|flossies|1000G | |
| g.7669124C>T | c.*485G>A | p.? | 11-exon | NA | 4968187 | 17-7572442-C-T | 325637 | dbSNP150|gnomAD|flossies|1000G | |
| g.7668996G>T | c.*613C>A | p.? | 11-exon | NA | 17879353 | 17-7572314-G-T | 325633 | dbSNP150|gnomAD|flossies|1000G | |
| g.7668855G>A | c.*754C>T | p.? | 11-exon | NA | 199729221 | 17-7572173-G-A | 325629 | dbSNP150|gnomAD | |
| g.7668837del | c.*772del | p.? | 11-exon | NA | 200757381 | 17-7572154-GA-G | 325628 | dbSNP150|gnomAD | |
| g.7668836G>A | c.*773C>T | p.? | 11-exon | NA | 200378797 | 17-7572154-G-A | 325627 | dbSNP150|1000G|gnomAD | |
| g.7668830G>A | c.*779C>T | p.? | 11-exon | NA | 1007476737 | 17-7572148-G-A | None | dbSNP150|gnomAD | |
| g.7668783C>T | c.*826G>A | p.? | 11-exon | NA | 17884306 | 17-7572101-C-T | 325623 | dbSNP150|gnomAD|1000G | |
| g.7668539G>A | c.*1070C>T | p.? | 11-exon | NA | 114831472 | 17-7571857-G-A | 325620 | dbSNP150|gnomAD|1000G | |
| g.7668434T>G | c.*1175A>C | p.? | 11-exon | NA | 78378222 | 17-7571752-T-G | 35555 | flossies|1000G|gnomAD | |
| g.7668388C>G | c.*1221G>C | p.? | 3'UTR | NA | 17883782 | 17-7571706-C-G | 369233 | dbSNP150|gnomAD|1000G | |
| g.7668317A>T | c.*1292T>A | p.? | 3'UTR | NA | 17884947 | 17-7571635-A-T | None | dbSNP150|gnomAD|1000G | |
| g.7668249C>T | c.*1360G>A | p.? | 3'UTR | NA | 117562731 | 17-7571567-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7668134G>A | c.*1475C>T | p.? | 3'UTR | NA | 1614984 | 17-7571452-G-A | 1294447 | dbSNP150|gnomAD|1000G | |
| g.7667908C>A | c.*1701G>T | p.? | 3'UTR | NA | 183153328 | 17-7571226-C-A | 490169 | dbSNP150|gnomAD|1000G | |
| g.7667762A>G | c.*1847T>C | p.? | 3'UTR | NA | 9894946 | 17-7571080-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7667753T>C | c.*1856A>G | p.? | 3'UTR | NA | 17887200 | 17-7571071-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7667706G>A | c.*1903C>T | p.? | 3'UTR | NA | 17883532 | 17-7571024-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7667677A>G | c.*1932T>C | p.? | 3'UTR | NA | 191005981 | 17-7570995-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7667660T>C | c.*1949A>G | p.? | 3'UTR | NA | 17886760 | 17-7570978-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7667638G>A | c.*1971C>T | p.? | 3'UTR | NA | 17883048 | 17-7570956-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7667630G>A | c.*1979C>T | p.? | 3'UTR | NA | 138723011 | 17-7570948-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7667612A>G | c.*1997T>C | p.? | 3'UTR | NA | 4968186 | 17-7570930-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7667611C>T | c.*1998G>A | p.? | 3'UTR | NA | 4968204 | 17-7570929-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7667560G>A | c.*2049C>T | p.? | 3'UTR | NA | 12949853 | 17-7570878-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7667551T>C | c.*2058A>G | p.? | 3'UTR | NA | 17881556 | 17-7570869-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7667505G>C | c.*2104C>G | p.? | 3'UTR | NA | 9914052 | 17-7570823-G-C | None | dbSNP150|gnomAD|1000G | |
| g.7667261A>T | c.*2348T>A | p.? | 3'UTR | NA | 73979530 | 17-7570579-A-T | None | dbSNP150|gnomAD | |
| g.7667261del | c.*2348del | p.? | 3'UTR | NA | 34569991 | 17-7570578-TA-T | None | dbSNP150|gnomAD|1000G | |
| g.7667259T>A | c.*2350A>T | p.? | 3'UTR | NA | 73979529 | 17-7570577-T-A | None | dbSNP150|gnomAD | |
| g.7667061C>T | c.*2548G>A | p.? | 3'UTR | NA | 17884318 | 17-7570379-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7667054G>A | c.*2555C>T | p.? | 3'UTR | NA | 368354579 | 17-7570372-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7666998A>G | c.*2611T>C | p.? | 3'UTR | NA | 17884512 | 17-7570316-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7666871T>C | c.*2738A>G | p.? | 3'UTR | NA | 9893249 | 17-7570189-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7666850G>A | c.*2759C>T | p.? | 3'UTR | NA | 17882212 | 17-7570168-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7666816G>A | c.*2793C>T | p.? | 3'UTR | NA | 370886766 | 17-7570134-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7666806G>A | c.*2803C>T | p.? | 3'UTR | NA | 17881402 | 17-7570124-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7666663C>T | c.*2946G>A | p.? | 3'UTR | NA | 17880839 | 17-7569981-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7666656C>T | c.*2953G>A | p.? | 3'UTR | NA | 17881045 | 17-7569974-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7666465C>T | c.*3144G>A | p.? | 3'UTR | NA | 141272226 | 17-7569783-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7666421G>C | c.*3188C>G | p.? | 3'UTR | NA | 146584089 | 17-7569739-G-C | None | dbSNP150|gnomAD|1000G | |
| g.7666380A>C | c.*3229T>G | p.? | 3'UTR | NA | 8073498 | 17-7569698-A-C | None | dbSNP150|gnomAD|1000G | |
| g.7666228C>G | c.*3381G>C | p.? | 3'UTR | NA | 144366923 | 17-7569546-C-G | 133418 | dbSNP150|gnomAD|1000G | |
| g.7666224G>A | c.*3385C>T | p.? | 3'UTR | NA | 74351250 | 17-7569542-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7666079C>T | c.*3530G>A | p.? | 3'UTR | NA | 1474281006 | 17-7569397-C-T | None | dbSNP151|gnomAD | |
| g.7665973T>G | c.*3636A>C | p.? | 3'UTR | NA | 116962948 | 17-7569291-T-G | None | dbSNP150|gnomAD|1000G | |
| g.7665828T>G | c.*3781A>C | p.? | 3'UTR | NA | 186044215 | 17-7569146-T-G | None | dbSNP150|gnomAD|1000G | |
| g.7665660G>A | c.*3949C>T | p.? | 3'UTR | NA | 370227832 | 17-7568978-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7665607C>T | c.*4002G>A | p.? | 3'UTR | NA | 55745760 | 17-7568925-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7665394A>G | c.*4215T>C | p.? | 3'UTR | NA | 201214141 | 17-7568712-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7665380del | c.*4229del | p.? | 3'UTR | NA | 1158985689 | 17-7568697-CA-C | None | dbSNP151|gnomAD | |
| g.7665379C>A | c.*4230G>T | p.? | 3'UTR | NA | 1052506893 | 17-7568697-C-A | None | dbSNP150|gnomAD | |
| g.7665379del | c.*4230del | p.? | 3'UTR | NA | 1390368037 | 17-7568696-GC-G | None | dbSNP151|gnomAD | |
| g.7665378G>C | c.*4231C>G | p.? | 3'UTR | NA | 375802474 | 17-7568696-G-C | None | dbSNP151|gnomAD | |
| g.7665378G>A | c.*4231C>T | p.? | 3'UTR | NA | 375802474 | 17-7568696-G-A | None | dbSNP150|gnomAD | |
| g.7665368C>A | c.*4241G>T | p.? | 3'UTR | NA | 1251853003 | 17-7568686-C-A | None | dbSNP151|gnomAD | |
| g.7665310G>A | c.*4299C>T | p.? | 3'UTR | NA | 117557561 | 17-7568628-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7665309C>T | c.*4300G>A | p.? | 3'UTR | NA | 373502928 | 17-7568627-C-T | None | dbSNP150|1000G|gnomAD | |
| g.7665125G>A | c.*4484C>T | p.? | 3'UTR | NA | 140032142 | 17-7568443-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7665038A>G | c.*4571T>C | p.? | 3'UTR | NA | 115425250 | 17-7568356-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7665009C>T | c.*4600G>A | p.? | 3'UTR | NA | 72829457 | 17-7568327-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7664889C>A | c.*4720G>T | p.? | 3'UTR | NA | 147342519 | 17-7568207-C-A | None | dbSNP150|gnomAD|1000G | |
| g.7664734T>C | c.*4875A>G | p.? | 3'UTR | NA | 60706951 | 17-7568052-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7664709C>T | c.*4900G>A | p.? | 3'UTR | NA | 147161837 | 17-7568027-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7664644C>T | c.*4965G>A | p.? | 3'UTR | NA | 567584325 | 17-7567962-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7664630T>G | c.*4979A>C | p.? | 3'UTR | NA | 549575011 | None | dbSNP150|1000G | ||
| g.7664432C>A | c.*5177G>T | p.? | 3'UTR | NA | 796984752 | 17-7567750-C-A | None | dbSNP150|gnomAD | |
| g.7664416T>A | c.*5193A>T | p.? | 3'UTR | NA | 572488097 | 17-7567734-T-A | None | dbSNP150|gnomAD|1000G | |
| g.7664409A>C | c.*5200T>G | p.? | 3'UTR | NA | 544585358 | 17-7567727-A-C | None | dbSNP150|gnomAD|1000G | |
| g.7664408del | c.*5201del | p.? | 3'UTR | NA | 1315158389 | 17-7567725-CT-C | None | dbSNP151|gnomAD | |
| g.7664403C>T | c.*5206G>A | p.? | 3'UTR | NA | 574008098 | None | dbSNP150|1000G | ||
| g.7664385A>G | c.*5224T>C | p.? | 3'UTR | NA | 12940247 | 17-7567703-A-G | None | dbSNP150|1000G|gnomAD | |
| g.7664363C>T | c.*5246G>A | p.? | 3'UTR | NA | 113440791 | 17-7567681-C-T | None | dbSNP150|1000G|gnomAD | |
| g.7664363del | c.*5246del | p.? | 3'UTR | NA | 879847468 | 17-7567680-TC-T | None | dbSNP150|gnomAD | |
| g.7664197C>T | c.*5412G>A | p.? | 3'UTR | NA | 35119871 | 17-7567515-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7664122T>C | c.*5487A>G | p.? | 3'UTR | NA | 150423780 | 17-7567440-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7663783G>A | c.*5826C>T | p.? | 3'UTR | NA | 9674869 | 17-7567101-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7663707G>A | c.*5902C>T | p.? | 3'UTR | NA | 192161036 | 17-7567025-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7663661A>G | c.*5948T>C | p.? | 3'UTR | NA | 9674772 | 17-7566979-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7663578G>C | c.*6031C>G | p.? | 3'UTR | NA | 148788890 | 17-7566896-G-C | None | dbSNP150|gnomAD|1000G | |
| g.7663465G>A | c.*6144C>T | p.? | 3'UTR | NA | 574133441 | 17-7566783-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7663413A>C | c.*6196T>G | p.? | 3'UTR | NA | 538627695 | 17-7566731-A-C | None | dbSNP150|gnomAD|1000G | |
| g.7663384del | c.*6225del | p.? | 3'UTR | NA | 567057195 | 17-7566701-AC-A | None | dbSNP150|gnomAD|1000G | |
| g.7663242G>A | c.*6367C>T | p.? | 3'UTR | NA | 182569720 | 17-7566560-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7663145A>T | c.*6464T>A | p.? | 3'UTR | NA | 2541013 | 17-7566463-A-T | None | dbSNP150|gnomAD | |
| g.7663110G>A | c.*6499C>T | p.? | 3'UTR | NA | 118051719 | 17-7566428-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7663009del | c.*6600del | p.? | 3'UTR | NA | 78337160 | 17-7566326-CT-C | None | dbSNP150|gnomAD|1000G | |
| g.7662956T>G | c.*6653A>C | p.? | 3'UTR | NA | 62062581 | 17-7566274-T-G | None | dbSNP150|gnomAD|1000G | |
| g.7662940G>C | c.*6669C>G | p.? | 3'UTR | NA | 563131494 | 17-7566258-G-C | None | dbSNP150|gnomAD|1000G | |
| g.7662919C>T | c.*6690G>A | p.? | 3'UTR | NA | 114907031 | 17-7566237-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7662878C>A | c.*6731G>T | p.? | 3'UTR | NA | 879705961 | 17-7566196-C-A | None | dbSNP150|gnomAD | |
| g.7662876A>G | c.*6733T>C | p.? | 3'UTR | NA | 879284885 | 17-7566194-A-G | None | dbSNP150|gnomAD | |
| g.7662875C>T | c.*6734G>A | p.? | 3'UTR | NA | 879900133 | 17-7566193-C-T | None | dbSNP150|gnomAD | |
| g.7662868C>A | c.*6741G>T | p.? | 3'UTR | NA | 879737159 | 17-7566186-C-A | None | dbSNP150|gnomAD | |
| g.7662867del | c.*6742del | p.? | 3'UTR | NA | 879319708 | 17-7566184-CT-C | None | dbSNP150|gnomAD | |
| g.7662860A>G | c.*6749T>C | p.? | 3'UTR | NA | 879324481 | 17-7566178-A-G | None | dbSNP150|gnomAD | |
| g.7662859G>T | c.*6750C>A | p.? | 3'UTR | NA | 879941509 | 17-7566177-G-T | None | dbSNP150|gnomAD | |
| g.7662815A>G | c.*6794T>C | p.? | 3'UTR | NA | 12600850 | 17-7566133-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7662644G>T | c.*6965C>A | p.? | 3'UTR | NA | 1308065452 | 17-7565962-G-T | None | dbSNP151|gnomAD | |
| g.7662482T>G | c.*7127A>C | p.? | 3'UTR | NA | 116840070 | 17-7565800-T-G | None | dbSNP150|gnomAD|1000G | |
| g.7662363A>G | c.*7246T>C | p.? | 3'UTR | NA | 78496430 | 17-7565681-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7662034C>A | c.*7575G>T | p.? | 3'UTR | NA | 140272752 | 17-7565352-C-A | None | dbSNP150|gnomAD|1000G | |
| g.7676734C>T | c.1-140G>A | p.? | 1-intron | NA | 8079544 | 17-7580052-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7676799C>G | c.1-205G>C | p.? | 1-intron | NA | 140699530 | 17-7580117-C-G | None | dbSNP150|gnomAD|1000G | |
| g.7676845G>C | c.1-251C>G | p.? | 1-intron | NA | 369145461 | None | dbSNP150|1000G | ||
| g.7676939del | c.1-345del | p.? | 1-intron | NA | 34576726 | 17-7580256-AT-A | None | dbSNP150|gnomAD|1000G | |
| g.7676944T>C | c.1-350A>G | p.? | 1-intron | NA | 1288485987 | 17-7580262-T-C | None | dbSNP151|gnomAD | |
| g.7676963G>A | c.1-369C>T | p.? | 1-intron | NA | 9894227 | 17-7580281-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7676965C>T | c.1-371G>A | p.? | 1-intron | NA | 1175438657 | 17-7580283-C-T | None | dbSNP151|gnomAD | |
| g.7677029C>T | c.1-435G>A | p.? | 1-intron | NA | 147856400 | 17-7580347-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7677182C>T | c.1-588G>A | p.? | 1-intron | NA | 12944939 | 17-7580500-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7677502C>T | c.1-908G>A | p.? | 1-intron | NA | 568048433 | 17-7580820-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7677509G>A | c.1-915C>T | p.? | 1-intron | NA | 189616033 | 17-7580827-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7677623C>T | c.1-1029G>A | p.? | 1-intron | NA | 9897559 | 17-7580941-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7677724A>G | c.1-1130T>C | p.? | 1-intron | NA | 113451673 | 17-7581042-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7677801A>C | c.1-1207T>G | p.? | 1-intron | NA | 139717912 | 17-7581119-A-C | None | dbSNP150|gnomAD|1000G | |
| g.7677806A>G | c.1-1212T>C | p.? | 1-intron | NA | 1642782 | 17-7581124-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7677910G>A | c.1-1316C>T | p.? | 1-intron | NA | 8078476 | 17-7581228-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7677953C>T | c.1-1359G>A | p.? | 1-intron | NA | 1794284 | 17-7581271-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7678039A>G | c.1-1445T>C | p.? | 1-intron | NA | 375751914 | 17-7581357-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7678177G>A | c.1-1583C>T | p.? | 1-intron | NA | 149071702 | 17-7581495-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7678392C>T | c.1-1798G>A | p.? | 1-intron | NA | 185308142 | 17-7581710-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7678452del | c.1-1858del | p.? | 1-intron | NA | 562992753 | 17-7581769-TC-T | None | dbSNP150|gnomAD|1000G | |
| g.7678459del | c.1-1865del | p.? | 1-intron | NA | 556714817 | 17-7581776-CT-C | None | dbSNP150|gnomAD | |
| g.7678497G>A | c.1-1903C>T | p.? | 1-intron | NA | 188169070 | 17-7581815-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7678600C>T | c.1-2006G>A | p.? | 1-intron | NA | 528846417 | 17-7581918-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7678824del | c.1-2230del | p.? | 1-intron | NA | 1280982617 | 17-7582141-CT-C | None | dbSNP151|gnomAD | |
| g.7678923del | c.1-2329del | p.? | 1-intron | NA | 1166315480 | 17-7582240-GT-G | None | dbSNP151|gnomAD | |
| g.7678938G>T | c.1-2344C>A | p.? | 1-intron | NA | 1235663576 | 17-7582256-G-T | None | dbSNP151|gnomAD | |
| g.7678986C>T | c.1-2392G>A | p.? | 1-intron | NA | 192049808 | 17-7582304-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7679159C>T | c.1-2565G>A | p.? | 1-intron | NA | 17886508 | 17-7582477-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7679160G>A | c.1-2566C>T | p.? | 1-intron | NA | 538218781 | 17-7582478-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7679297_7679297del | c.1-2703del | p.? | 1-intron | NA | None | 17361558 | |||
| g.7679556A>G | c.1-2962T>C | p.? | 1-intron | NA | 12603869 | 17-7582874-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7679592C>T | c.1-2998G>A | p.? | 1-intron | NA | 17880541 | 17-7582910-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7679695C>G | c.1-3101G>C | p.? | 1-intron | NA | 12602273 | 17-7583013-C-G | None | dbSNP150|gnomAD|1000G | |
| g.7679754A>G | c.1-3160T>C | p.? | 1-intron | NA | 17882863 | 17-7583072-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7679765G>A | c.1-3171C>T | p.? | 1-intron | NA | 2078486 | 17-7583083-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7679802G>C | c.1-3208C>G | p.? | 1-intron | NA | 144295313 | 17-7583120-G-C | None | dbSNP150|gnomAD|1000G | |
| g.7679868G>A | c.1-3274C>T | p.? | 1-intron | NA | 532437594 | 17-7583186-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7679880A>G | c.1-3286T>C | p.? | 1-intron | NA | 34766441 | 17-7583198-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7679909G>A | c.1-3315C>T | p.? | 1-intron | NA | 17883373 | 17-7583227-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7680152T>C | c.1-3558A>G | p.? | 1-intron | NA | 114646359 | 17-7583470-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7680497del | c.1-3903del | p.? | 1-intron | NA | 34922547 | 17-7583814-CT-C | None | dbSNP151|gnomAD | |
| g.7680524A>T | c.1-3930T>A | p.? | 1-intron | NA | 1053101327 | 17-7583842-A-T | None | dbSNP151|gnomAD | |
| g.7680528del | c.1-3934del | p.? | 1-intron | NA | 1346276804 | 17-7583845-CT-C | None | dbSNP151|gnomAD | |
| g.7680543G>T | c.1-3949C>A | p.? | 1-intron | NA | 79959593 | 17-7583861-G-T | None | dbSNP150|gnomAD | |
| g.7680571G>A | c.1-3977C>T | p.? | 1-intron | NA | 143002701 | 17-7583889-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7680579C>T | c.1-3985G>A | p.? | 1-intron | NA | 186708994 | 17-7583897-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7680585C>G | c.1-3991G>C | p.? | 1-intron | NA | 11869968 | 17-7583903-C-G | None | dbSNP150|gnomAD|1000G | |
| g.7680714G>A | c.1-4120C>T | p.? | 1-intron | NA | 12945970 | 17-7584032-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7680776C>T | c.1-4182G>A | p.? | 1-intron | NA | 559257856 | 17-7584094-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7680801G>A | c.1-4207C>T | p.? | 1-intron | NA | 150569760 | 17-7584119-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7680879A>G | c.1-4285T>C | p.? | 1-intron | NA | 139560719 | 17-7584197-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7680948G>A | c.1-4354C>T | p.? | 1-intron | NA | 11655922 | 17-7584266-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7680956G>A | c.1-4362C>T | p.? | 1-intron | NA | 112722792 | 17-7584274-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7681082T>C | c.1-4488A>G | p.? | 1-intron | NA | 11652704 | 17-7584400-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7681156A>T | c.1-4562T>A | p.? | 1-intron | NA | 906364395 | 17-7584474-A-T | None | dbSNP150|gnomAD | |
| g.7681171del | c.1-4577del | p.? | 1-intron | NA | 34199921 | 17-7584488-CT-C | None | dbSNP150|gnomAD|1000G | |
| g.7681189G>T | c.1-4595C>A | p.? | 1-intron | NA | 1387777214 | 17-7584507-G-T | None | dbSNP151|gnomAD | |
| g.7681189del | c.1-4595del | p.? | 1-intron | NA | 1289446588 | 17-7584506-TG-T | None | dbSNP151|gnomAD | |
| g.7681190A>T | c.1-4596T>A | p.? | 1-intron | NA | 1237113403 | 17-7584508-A-T | None | dbSNP151|gnomAD | |
| g.7681197A>G | c.1-4603T>C | p.? | 1-intron | NA | 35175270 | 17-7584515-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7681554T>C | c.1-4960A>G | p.? | 1-intron | NA | 193018176 | 17-7584872-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7681796T>C | c.1-5202A>G | p.? | 1-intron | NA | 866792730 | 17-7585114-T-C | None | dbSNP150|gnomAD | |
| g.7681798del | c.1-5204del | p.? | 1-intron | NA | 200656663 | 17-7585115-TC-T | None | dbSNP150|gnomAD | |
| g.7681799del | c.1-5205del | p.? | 1-intron | NA | 1443893130 | 17-7585116-CT-C | None | dbSNP151|gnomAD | |
| g.7681889G>A | c.1-5295C>T | p.? | 1-intron | NA | 570181271 | None | dbSNP150|1000G | ||
| g.7681918C>T | c.1-5324G>A | p.? | 1-intron | NA | 188709599 | 17-7585236-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7682044C>T | c.1-5450G>A | p.? | 1-intron | NA | 146701070 | 17-7585362-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7682071G>C | c.1-5477C>G | p.? | 1-intron | NA | 553709209 | 17-7585389-G-C | None | dbSNP150|gnomAD|1000G | |
| g.7682208del | c.1-5614del | p.? | 1-intron | NA | 1390439745 | 17-7585525-CT-C | None | dbSNP151|gnomAD | |
| g.7682213T>C | c.1-5619A>G | p.? | 1-intron | NA | 1411554570 | 17-7585531-T-C | None | dbSNP151|gnomAD | |
| g.7682214T>C | c.1-5620A>G | p.? | 1-intron | NA | 8068551 | 17-7585532-T-C | None | dbSNP150|1000G|gnomAD | |
| g.7682215T>C | c.1-5621A>G | p.? | 1-intron | NA | 1397666461 | 17-7585533-T-C | None | dbSNP151|gnomAD | |
| g.7682216T>C | c.1-5622A>G | p.? | 1-intron | NA | 554341153 | 17-7585534-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7682230G>T | c.1-5636C>A | p.? | 1-intron | NA | 1324709184 | 17-7585548-G-T | None | dbSNP151|gnomAD | |
| g.7682231A>T | c.1-5637T>A | p.? | 1-intron | NA | 1226983195 | 17-7585549-A-T | None | dbSNP151|gnomAD | |
| g.7682537G>A | c.1-5943C>T | p.? | 1-intron | NA | 185158874 | 17-7585855-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7682743T>C | c.1-6149A>G | p.? | 1-intron | NA | 17881002 | 17-7586061-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7682745T>C | c.1-6151A>G | p.? | 1-intron | NA | 17886107 | 17-7586063-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7682761C>A | c.1-6167G>T | p.? | 1-intron | NA | 17881789 | 17-7586079-C-A | None | dbSNP150|gnomAD|1000G | |
| g.7682762A>G | c.1-6168T>C | p.? | 1-intron | NA | 17880658 | 17-7586080-A-G | 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.7683062C>T | c.1-6468G>A | p.? | 1-intron | NA | 541850520 | 17-7586380-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7683063G>C | c.1-6469C>G | p.? | 1-intron | NA | 17883925 | 17-7586381-G-C | None | dbSNP150|gnomAD|1000G | |
| g.7683105del | c.1-6511del | p.? | 1-intron | NA | 1214032258 | 17-7586422-AT-A | None | dbSNP151|gnomAD | |
| g.7683153G>A | c.1-6559C>T | p.? | 1-intron | NA | 191945441 | 17-7586471-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7683332G>A | c.1-6738C>T | p.? | 1-intron | NA | 183171181 | 17-7586650-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7683421G>A | c.1-6827C>T | p.? | 1-intron | NA | 17884387 | 17-7586739-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7683471A>G | c.1-6877T>C | p.? | 1-intron | NA | 17880340 | 17-7586789-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7683476C>T | c.1-6882G>A | p.? | 1-intron | NA | 570232787 | None | dbSNP150|1000G | ||
| g.7683522G>A | c.1-6928C>T | p.? | 1-intron | NA | 544569940 | 17-7586840-G-A | None | dbSNP150|gnomAD | |
| g.7683763G>A | c.1-7169C>T | p.? | 1-intron | NA | 62062585 | 17-7587081-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7683800T>C | c.1-7206A>G | p.? | 1-intron | NA | 190365671 | 17-7587118-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7683862T>C | c.1-7268A>G | p.? | 1-intron | NA | 11656607 | 17-7587180-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7683931C>T | c.1-7337G>A | p.? | 1-intron | NA | 139152287 | 17-7587249-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7684156T>C | c.1-7562A>G | p.? | 1-intron | NA | 187658938 | 17-7587474-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7684369A>G | c.1-7775T>C | p.? | 1-intron | NA | 76923748 | 17-7587687-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7684415T>C | c.1-7821A>G | p.? | 1-intron | NA | 76032029 | 17-7587733-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7684581T>C | c.1-7987A>G | p.? | 1-intron | NA | 17881035 | 17-7587899-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7684658T>C | c.1-8064A>G | p.? | 1-intron | NA | 574141000 | 17-7587976-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7684682del | c.1-8088del | p.? | 1-intron | NA | 1178733709 | 17-7587999-TA-T | None | dbSNP151|gnomAD | |
| g.7684688A>C | c.1-8094T>G | p.? | 1-intron | NA | 9903378 | 17-7588006-A-C | 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.7684875C>A | c.1-8281G>T | p.? | 1-intron | NA | 149545512 | 17-7588193-C-A | None | dbSNP150|gnomAD|1000G | |
| g.7685152A>T | c.1-8558T>A | p.? | 1-intron | NA | 17885845 | 17-7588470-A-T | None | dbSNP150|gnomAD|1000G | |
| g.7685242A>G | c.1-8648T>C | p.? | 1-intron | NA | 17882227 | 17-7588560-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7685362del | c.1-8768del | p.? | 1-intron | NA | 17882854 | 17-7588679-GC-G | None | dbSNP150|gnomAD|1000G | |
| g.7685412G>C | c.1-8818C>G | p.? | 1-intron | NA | 533955235 | 17-7588730-G-C | None | dbSNP150|gnomAD|1000G | |
| g.7685432G>T | c.1-8838C>A | p.? | 1-intron | NA | 17883687 | 17-7588750-G-T | None | dbSNP150|gnomAD|1000G | |
| g.7685443G>T | c.1-8849C>A | p.? | 1-intron | NA | 574076243 | 17-7588761-G-T | None | dbSNP150|gnomAD|1000G | |
| g.7685457T>C | c.1-8863A>G | p.? | 1-intron | NA | 544381283 | 17-7588775-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7685638G>A | c.1-9044C>T | p.? | 1-intron | NA | 17878400 | 17-7588956-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7685729G>T | c.1-9135C>A | p.? | 1-intron | NA | 17885988 | 17-7589047-G-T | None | dbSNP150|1000G|gnomAD | |
| g.7685870T>C | c.1-9276A>G | p.? | 1-intron | NA | 17881545 | 17-7589188-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7685993G>C | c.1-9399C>G | p.? | 1-intron | NA | 8064946 | 17-7589311-G-C | None | dbSNP150|gnomAD|1000G | |
| g.7686136C>T | c.1-9542G>A | p.? | 1-intron | NA | 146230720 | 17-7589454-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7686194T>C | c.1-9600A>G | p.? | 1-intron | NA | 193086249 | 17-7589512-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7686304del | c.1-9710del | p.? | 1-intron | NA | 797011726 | 17-7589621-CT-C | None | dbSNP150|gnomAD | |
| g.7686387C>T | c.1-9793G>A | p.? | 1-intron | NA | 191740863 | 17-7589705-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7686806A>G | c.1-10212T>C | p.? | 1-intron | NA | 9905505 | 17-7590124-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7687092G>A | c.1-10498C>T | p.? | 1-intron | NA | 55651612 | 17-7590410-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7687141A>G | c.1-10547T>C | p.? | 1-intron | NA | 17883908 | 17-7590459-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7687229C>T | c.1-10635G>A | p.? | 1-intron | NA | 17886250 | 17-7590547-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7687656G>C | c.1-11062C>G | p.? | 5'UTR | NA | 184299271 | 17-7590974-G-C | None | dbSNP150|gnomAD|1000G | |
| g.7687942C>T | c.1-11348G>A | p.? | 5'UTR | NA | 17886079 | 17-7591260-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7688003C>A | c.1-11409G>T | p.? | 5'UTR | NA | 559159932 | None | dbSNP150|1000G | ||
| g.7688162G>A | c.1-11568C>T | p.? | 5'UTR | NA | 186185308 | 17-7591480-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7688222T>C | c.1-11628A>G | p.? | 5'UTR | NA | 1421314 | 17-7591540-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7688236G>A | c.1-11642C>T | p.? | 5'UTR | NA | 17883184 | 17-7591554-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7688237T>A | c.1-11643A>T | p.? | 5'UTR | NA | 17882910 | 17-7591555-T-A | None | dbSNP150|gnomAD|1000G | |
| g.7688404G>C | c.1-11810C>G | p.? | 5'UTR | NA | 17883670 | 17-7591722-G-C | 369235 | dbSNP150|gnomAD|1000G | |
| g.7688443G>A | c.1-11849C>T | p.? | 5'UTR | NA | 17551150 | 17-7591761-G-A | 369236 | dbSNP150|gnomAD|1000G | |
| g.7688511C>T | c.1-11917G>A | p.? | 5'UTR | NA | 79199718 | 17-7591829-C-T | 325648 | dbSNP150|gnomAD|1000G | |
| g.7688679C>T | c.1-12085G>A | p.? | 5'UTR | NA | 17880282 | 17-7591997-C-T | 325650 | dbSNP150|gnomAD|1000G | |
| g.7688850C>G | c.1-12256G>C | p.? | 5'UTR | NA | 2287499 | 17-7592168-C-G | 261001 | dbSNP150|gnomAD|1000G | |
| g.7689055C>G | c.1-12461G>C | p.? | 5'UTR | NA | 34067256 | 17-7592373-C-G | 261002 | dbSNP150|gnomAD|1000G | |
| g.7689094C>T | c.1-12500G>A | p.? | 5'UTR | NA | 17880740 | 17-7592412-C-T | 325653 | dbSNP150|gnomAD|1000G | |
| g.7689164C>T | c.1-12570G>A | p.? | 5'UTR | NA | 17885803 | 17-7592482-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7689202T>C | c.1-12608A>G | p.? | 5'UTR | NA | 17882137 | 17-7592520-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7689242C>T | c.1-12648G>A | p.? | 5'UTR | NA | 2287498 | 17-7592560-C-T | 261003 | dbSNP150|gnomAD|1000G | |
| g.7689442C>G | c.1-12848G>C | p.? | 5'UTR | NA | 570571157 | None | dbSNP150|1000G | ||
| g.7689462G>A | c.1-12868C>T | p.? | 5'UTR | NA | 2287497 | 17-7592780-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7689484C>T | c.1-12890G>A | p.? | 5'UTR | NA | 17886268 | 17-7592802-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7689792T>C | c.1-13198A>G | p.? | 5'UTR | NA | 181313855 | 17-7593110-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7689817C>T | c.1-13223G>A | p.? | 5'UTR | NA | 202093256 | 17-7593135-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7689844C>G | c.1-13250G>C | p.? | 5'UTR | NA | 34557119 | 17-7593162-C-G | None | dbSNP150|gnomAD|1000G | |
| g.7668837_7668838del | c.*771_*772del | p.? | 11-exon | NA | 1414526840 | 17-7572154-GAA-G | None | dbSNP151|gnomAD | |
| g.7665380_7665382del | c.*4227_*4229del | p.? | 3'UTR | NA | 1288954720 | 17-7568697-CAAA-C | None | dbSNP151|gnomAD | |
| g.7665380_7665381del | c.*4228_*4229del | p.? | 3'UTR | NA | 67602984 | 17-7568697-CAA-C | None | dbSNP151|gnomAD | |
| g.7664456_7664459del | c.*5150_*5153del | p.? | 3'UTR | NA | 375711708 | 17-7567773-CTCTA-C | None | dbSNP150|gnomAD|1000G | |
| g.7664429_7664432del | c.*5177_*5180del | p.? | 3'UTR | NA | 201537653 | 17-7567746-ATCTC-A | None | dbSNP150|gnomAD | |
| g.7664418_7664432del | c.*5177_*5191del | p.? | 3'UTR | NA | 1454553425 | 17-7567735-ATCATCTATCTATCTC-A | None | dbSNP151|gnomAD | |
| g.7664414_7664432del | c.*5177_*5195del | p.? | 3'UTR | NA | 976006383 | 17-7567731-ATCTATCATCTATCTATCTC-A | None | gnomAD | |
| g.7664410_7664432del | c.*5177_*5199del | p.? | 3'UTR | NA | 544585358 | 17-7567727-ATCTATCTATCATCTATCTATCTC-A | None | gnomAD | |
| g.7664402_7664432del | c.*5177_*5207del | p.? | 3'UTR | NA | 775651611 | 17-7567719-ATCTATCTATCTATCTATCATCTATCTATCTC-A | None | dbSNP151|gnomAD | |
| g.7664398_7664432del | c.*5177_*5211del | p.? | 3'UTR | NA | 1450016242 | 17-7567715-ATCTATCTATCTATCTATCTATCATCTATCTATCTC-A | None | dbSNP151|gnomAD | |
| g.7664417_7664419del | c.*5190_*5192del | p.? | 3'UTR | NA | 768579604 | 17-7567734-TATC-T | None | dbSNP150|gnomAD | |
| g.7664393_7664419del | c.*5190_*5216del | p.? | 3'UTR | NA | 1344903661 | 17-7567710-TATCTATCTATCTATCTATCTATCTATC-T | None | dbSNP151|gnomAD | |
| g.7664389_7664419del | c.*5190_*5220del | p.? | 3'UTR | NA | 1273491881 | 17-7567706-TATCTATCTATCTATCTATCTATCTATCTATC-T | None | dbSNP151|gnomAD | |
| g.7664385_7664419del | c.*5190_*5224del | p.? | 3'UTR | NA | 1344401908 | 17-7567702-TATCTATCTATCTATCTATCTATCTATCTATCTATC-T | None | dbSNP151|gnomAD | |
| g.7664360_7664375del | c.*5234_*5249del | p.? | 3'UTR | NA | 1206406189 | 17-7567677-TTATCTATCTATCTATC-T | None | dbSNP151|gnomAD | |
| g.7664360_7664371del | c.*5238_*5249del | p.? | 3'UTR | NA | 745841363 | 17-7567677-TTATCTATCTATC-T | None | dbSNP150|gnomAD | |
| g.7664365_7664367del | c.*5242_*5244del | p.? | 3'UTR | NA | 879335448 | 17-7567682-TATC-T | None | dbSNP150|gnomAD | |
| g.7664360_7664367del | c.*5242_*5249del | p.? | 3'UTR | NA | 201905420 | 17-7567677-TTATCTATC-T | None | dbSNP150|gnomAD | |
| g.7664360_7664363del | c.*5246_*5249del | p.? | 3'UTR | NA | 572844427 | 17-7567677-TTATC-T | None | dbSNP151|gnomAD | |
| g.7663628_7663631del | c.*5978_*5981del | p.? | 3'UTR | NA | 200145124 | 17-7566945-GTTTA-G | None | dbSNP150|gnomAD | |
| g.7663544_7663548del | c.*6061_*6065del | p.? | 3'UTR | NA | 368098733 | 17-7566861-AAAAAG-A | None | dbSNP150|gnomAD|1000G | |
| g.7663127_7663156del | c.*6453_*6482del | p.? | 3'UTR | NA | 151205927 | 17-7566444-GTATATATATAATATATATAATATAATATAA-G | None | dbSNP151|gnomAD | |
| g.7663148_7663150del | c.*6459_*6461del | p.? | 3'UTR | NA | 67905980 | 17-7566465-TATA-T | None | dbSNP150|gnomAD | |
| g.7663145_7663146del | c.*6463_*6464del | p.? | 3'UTR | NA | 33975564 | 17-7566462-TAA-T | None | dbSNP150|gnomAD | |
| g.7662019_7662020del | c.*7589_*7590del | p.? | 3'UTR | NA | 756472945 | 17-7565336-AAG-A | None | dbSNP150|gnomAD | |
| g.7661842_7661844del | c.*7765_*7767del | p.? | 3'UTR | NA | 144289006 | 17-7565159-ACCT-A | None | dbSNP150|gnomAD|1000G | |
| g.7676939_7676940del | c.1-346_1-345del | p.? | 1-intron | NA | 539718496 | 17-7580256-ATT-A | None | dbSNP151|gnomAD | |
| g.7667260_7667261insA | c.*2348_*2349insT | p.? | 3'UTR | NA | 34103303 | 17-7570578-T-TA | None | dbSNP151|gnomAD | |
| g.7665791_7665792insA | c.*3817_*3818insT | p.? | 3'UTR | NA | 145856812 | 17-7569109-C-CA | None | dbSNP150|gnomAD|1000G | |
| g.7665394_7665395insG | c.*4214_*4215insC | p.? | 3'UTR | NA | 200940122 | 17-7568712-A-AG | None | dbSNP150|gnomAD | |
| g.7665379_7665380insA | c.*4229_*4230insT | p.? | 3'UTR | NA | 1491425290 | 17-7568697-C-CA | None | dbSNP151|gnomAD | |
| g.7665368_7665369insA | c.*4240_*4241insT | p.? | 3'UTR | NA | 1176754579 | 17-7568686-C-CA | None | dbSNP151|gnomAD | |
| g.7664584_7664585insT | c.*5024_*5025insA | p.? | 3'UTR | NA | 34289020 | 17-7567902-C-CT | None | dbSNP150|gnomAD|1000G | |
| g.7664419_7664420insN | c.*5189_*5190insN | p.? | 3'UTR | NA | 369980720 | None | dbSNP150|1000G | ||
| g.7667260_7667261insAA | c.*2348_*2349insTT | p.? | 3'UTR | NA | 1264772987 | 17-7570578-T-TAA | None | dbSNP151|gnomAD | |
| g.7665791_7665792insAA | c.*3817_*3818insTT | p.? | 3'UTR | NA | 145856812 | 17-7569109-C-CAA | None | dbSNP151|gnomAD | |
| g.7665379_7665380insAA | c.*4229_*4230insTT | p.? | 3'UTR | NA | 1491425290 | 17-7568697-C-CAA | None | dbSNP151|gnomAD | |
| g.7664584_7664585insTT | c.*5024_*5025insAA | p.? | 3'UTR | NA | 34289020 | 17-7567902-C-CTT | None | dbSNP151|gnomAD | |
| g.7678449_7678452del | c.1-1858_1-1855del | p.? | 1-intron | NA | 148232927 | 17-7581766-TTTTC-T | None | 19877175 | dbSNP150|gnomAD|1000G |
| g.7678923_7678926del | c.1-2332_1-2329del | p.? | 1-intron | NA | 529512849 | 17-7582240-GTTTT-G | None | dbSNP150|gnomAD|1000G | |
| g.7679289_7679293del | c.1-2699_1-2695del | p.? | 1-intron | NA | 374154934 | 17-7582606-TTTTTA-T | None | dbSNP150|gnomAD|1000G | |
| g.7679289_7679298del | c.1-2704_1-2695del | p.? | 1-intron | NA | 71159521 | 17-7582606-TTTTTATTTTA-T | None | dbSNP151|gnomAD | |
| g.7679289_7679303del | c.1-2709_1-2695del | p.? | 1-intron | NA | 1484977650 | 17-7582606-TTTTTATTTTATTTTA-T | None | dbSNP151|gnomAD | |
| g.7681171_7681172del | c.1-4578_1-4577del | p.? | 1-intron | NA | 1491284543 | 17-7584488-CTT-C | None | dbSNP151|gnomAD | |
| g.7681738_7681739del | c.1-5145_1-5144del | p.? | 1-intron | NA | 548969562 | 17-7585055-CCT-C | None | dbSNP150|gnomAD|1000G | |
| g.7681793_7681794del | c.1-5200_1-5199del | p.? | 1-intron | NA | 139628695 | 17-7585110-CTT-C | None | dbSNP150|gnomAD | |
| g.7682208_7682209del | c.1-5615_1-5614del | p.? | 1-intron | NA | 548057399 | 17-7585525-CTT-C | None | dbSNP151|gnomAD | |
| g.7682208_7682215del | c.1-5621_1-5614del | p.? | 1-intron | NA | 1207409853 | 17-7585525-CTTTTTTTT-C | None | dbSNP151|gnomAD | |
| g.7682208_7682216del | c.1-5622_1-5614del | p.? | 1-intron | NA | 1327155351 | 17-7585525-CTTTTTTTTT-C | None | dbSNP151|gnomAD | |
| g.7682208_7682217del | c.1-5623_1-5614del | p.? | 1-intron | NA | 1166221335 | 17-7585525-CTTTTTTTTTT-C | None | dbSNP151|gnomAD | |
| g.7683105_7683108del | c.1-6514_1-6511del | p.? | 1-intron | NA | 143394414 | 17-7586422-ATTTT-A | None | dbSNP150|gnomAD | |
| g.7678458_7678459insT | c.1-1865_1-1864insA | p.? | 1-intron | NA | 886585627 | 17-7581776-C-CT | None | dbSNP150|gnomAD | |
| g.7678823_7678824insT | c.1-2230_1-2229insA | p.? | 1-intron | NA | 764484924 | 17-7582141-C-CT | None | dbSNP150|gnomAD | |
| g.7678922_7678923insT | c.1-2329_1-2328insA | p.? | 1-intron | NA | 575188915 | 17-7582240-G-GT | None | dbSNP150|gnomAD | |
| g.7680496_7680497insT | c.1-3903_1-3902insA | p.? | 1-intron | NA | 71387982 | 17-7583814-C-CT | None | dbSNP150|gnomAD | |
| g.7680527_7680528insT | c.1-3934_1-3933insA | p.? | 1-intron | NA | 112634888 | 17-7583845-C-CT | None | dbSNP150|gnomAD|1000G | |
| g.7681170_7681171insT | c.1-4577_1-4576insA | p.? | 1-intron | NA | 1445253612 | 17-7584488-C-CT | None | dbSNP151|gnomAD | |
| g.7681798_7681799insT | c.1-5205_1-5204insA | p.? | 1-intron | NA | 367940585 | 17-7585116-C-CT | None | dbSNP150|gnomAD | |
| g.7682207_7682208insT | c.1-5614_1-5613insA | p.? | 1-intron | NA | 1466548956 | 17-7585525-C-CT | None | dbSNP151|gnomAD | |
| g.7683050_7683051insC | c.1-6457_1-6456insG | p.? | 1-intron | NA | 574271818 | 17-7586368-G-GC | None | dbSNP150|gnomAD|1000G | |
| g.7683104_7683105insT | c.1-6511_1-6510insA | p.? | 1-intron | NA | 1419788856 | 17-7586422-A-AT | None | dbSNP151|gnomAD | |
| g.7683718_7683719insT | c.1-7125_1-7124insA | p.? | 1-intron | NA | 201000503 | 17-7587036-C-CT | None | dbSNP150|gnomAD | |
| g.7684681_7684682insA | c.1-8088_1-8087insT | p.? | 1-intron | NA | 540739179 | 17-7587999-T-TA | None | dbSNP150|gnomAD | |
| g.7685459_7685460insN | c.1-8866_1-8865insN | p.? | 1-intron | NA | 17883353 | None | |||
| g.7686303_7686304insT | c.1-9710_1-9709insA | p.? | 1-intron | NA | 369318275 | 17-7589621-C-CT | None | dbSNP151|gnomAD | |
| g.7664381_7664382insTCTG | c.*5227_*5228insCAGA | p.? | 3'UTR | NA | 1264676041 | 17-7567699-A-ATCTG | None | dbSNP151|gnomAD | |
| g.7664361_7664362insTCTG | c.*5247_*5248insCAGA | p.? | 3'UTR | NA | 1555523075 | 17-7567679-A-ATCTG | None | dbSNP151|gnomAD | |
| g.7664359_7664360insTATC | c.*5249_*5250insGATA | p.? | 3'UTR | NA | 1407205018 | 17-7567677-T-TTATC | None | dbSNP151|gnomAD | |
| g.7664358_7664359insTTAT | c.*5250_*5251insATAA | p.? | 3'UTR | NA | 374265715 | 17-7567676-A-ATTAT | None | dbSNP150|gnomAD | |
| g.7680527_7680528insTT | c.1-3934_1-3933insAA | p.? | 1-intron | NA | 112634888 | 17-7583845-C-CTT | None | dbSNP151|gnomAD | |
| g.7681170_7681171insTT | c.1-4577_1-4576insAA | p.? | 1-intron | NA | 1445253612 | 17-7584488-C-CTT | None | dbSNP151|gnomAD | |
| g.7681798_7681799insTT | c.1-5205_1-5204insAA | p.? | 1-intron | NA | 367940585 | 17-7585116-C-CTT | None | dbSNP151|gnomAD | |
| g.7683104_7683105insTT | c.1-6511_1-6510insAA | p.? | 1-intron | NA | 1419788856 | 17-7586422-A-ATT | None | dbSNP151|gnomAD | |
| g.7678823_7678824insTTT | c.1-2230_1-2229insAAA | p.? | 1-intron | NA | 764484924 | 17-7582141-C-CTTT | None | dbSNP151|gnomAD | |
| g.7679401_7679402insNNN | c.1-2808_1-2807insNNN | p.? | 1-intron | NA | 17886028 | None | |||
| g.7680210_7680211insNNN | c.1-3617_1-3616insNNN | p.? | 1-intron | NA | 5819163 | None | |||
| g.7688193_7688194insGG | c.1-11600_1-11599insCC | p.? | 5'UTR | NA | 17551157 | 17-7591511-C-CGG | None | dbSNP151|gnomAD | |
| g.7679292_7679293insNNN(AAAAT)n | c.1-2698insNNN(AAAAT)n | p.? | 1-intron | NA | None | 17361558 | |||
| g.7679288_7679289insTTTTA | c.1-2695_1-2694insTAAAA | p.? | 1-intron | NA | 779359991 | 17-7582606-T-TTTTTA | None | dbSNP150|gnomAD | |
| g.7664377_7664378insTCTATCTG | c.*5231_*5232insCAGATAGA | p.? | 3'UTR | NA | 780808550 | 17-7567695-A-ATCTATCTG | None | dbSNP150|gnomAD | |
| g.7688193_7688194insNNNN | c.1-11600_1-11599insNNNN | p.? | 5'UTR | NA | 17551157 | None | dbSNP151|1000G | ||
| g.7664373_7664374insTCTATCTATCTG | c.*5235_*5236insCAGATAGATAGA | p.? | 3'UTR | NA | 766473406 | 17-7567691-A-ATCTATCTATCTG | None | dbSNP150|gnomAD | |
| g.7679288_7679289insTTTTATTTTA | c.1-2695_1-2694insTAAAATAAAA | p.? | 1-intron | NA | 779359991 | 17-7582606-T-TTTTTATTTTA | None | dbSNP151|gnomAD | |
| g.7664373_7664374insTCTATCTATCTATCTG | c.*5235_*5236insCAGATAGATAGATAGA | p.? | 3'UTR | NA | 766473406 | 17-7567691-A-ATCTATCTATCTATCTG | None | gnomAD | |
| g.7664369_7664370insTCTATCTATCTATCTG | c.*5239_*5240insCAGATAGATAGATAGA | p.? | 3'UTR | NA | 1555523078 | 17-7567687-A-ATCTATCTATCTATCTG | None | dbSNP151|gnomAD | |
| g.7679288_7679289insTTTTATTTTATTTTA | c.1-2695_1-2694insTAAAATAAAATAAAA | p.? | 1-intron | NA | 779359991 | 17-7582606-T-TTTTTATTTTATTTTA | None | dbSNP151|gnomAD | |
| g.7664365_7664366insTCTATCTATCTATCTATCTG | c.*5243_*5244insCAGATAGATAGATAGATAGA | p.? | 3'UTR | NA | 773392351 | 17-7567683-A-ATCTATCTATCTATCTATCTG | None | dbSNP151|gnomAD | |
| g.7664365_7664366insTCTATCTATCTATCTATCTATCTG | c.*5243_*5244insCAGATAGATAGATAGATAGATAGA | p.? | 3'UTR | NA | 773392351 | 17-7567683-A-ATCTATCTATCTATCTATCTATCTG | None | gnomAD | |
| g.7664361_7664362insTCTATCTATCTATCTATCTATCTG | c.*5247_*5248insCAGATAGATAGATAGATAGATAGA | p.? | 3'UTR | NA | 748660166 | 17-7567679-A-ATCTATCTATCTATCTATCTATCTG | None | dbSNP150|gnomAD | |
| g.7664361_7664362insTCTATCTATCTATCTATCTATCTATCTG | c.*5247_*5248insCAGATAGATAGATAGATAGATAGATAGA | p.? | 3'UTR | NA | 748660166 | 17-7567679-A-ATCTATCTATCTATCTATCTATCTATCTG | None | gnomAD | |
| g.7664359_7664360insTATCTATCTATCTATCTATCTATCTGTC | c.*5249_*5250insGACAGATAGATAGATAGATAGATAGATA | p.? | 3'UTR | NA | 952065958 | 17-7567677-T-TTATCTATCTATCTATCTATCTATCTGTC | None | gnomAD | |
| g.7675394_7675396del | c.376-160_376-158del | p.? | 4-intron | other | 141204613 | 17-7578711-CTTT-C | 803309 | dbSNP150|gnomAD | |
| g.7676261C>T | c.108G>A | p.P36P | 4-exon | silent | 1800370 | 17-7579579-C-T | 132708 | 8302598 | dbSNP150|gnomAD|flossies|1000G |
| g.7674892T>C | c.639A>G | p.R213R | 6-exon | silent | 1800372 | 17-7578210-T-C | 43591 | 1923533 | dbSNP150|gnomAD|flossies|1000G |
| g.7676278G>A | c.97-6C>T | p.? | 3-intron | intronic | 35117667 | 17-7579596-G-A | 220942 | dbSNP150|gnomAD|flossies|1000G | |
| g.7676483G>C | c.74+38C>G | p.? | 2-intron | intronic | 1642785 | 17-7579801-G-C | 137691 | 8168846 | dbSNP150|gnomAD|1000G |
| g.7676324C>T | c.96+58G>A | p.? | 3-intron | intronic | 540683791 | None | dbSNP150|1000G | ||
| g.7676301G>T | c.97-29C>A | p.? | 3-intron | intronic | 17883323 | 17-7579619-G-T | 256604 | dbSNP150|gnomAD|1000G | |
| g.7675322A>G | c.376-86T>C | p.? | 4-intron | intronic | 113530090 | 17-7578640-A-G | 670317 | dbSNP150|gnomAD|1000G | |
| g.7675327C>T | c.376-91G>A | p.? | 4-intron | intronic | 2909430 | 17-7578645-C-T | 440348 | dbSNP150|gnomAD|1000G | |
| g.7674841C>G | c.672+18G>C | p.? | 6-intron | intronic | 199578278 | 17-7578159-C-G | 182947 | 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.7674811C>T | c.672+48G>A | p.? | 6-intron | intronic | 17884607 | 17-7578129-C-T | 1194751 | 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.7674326C>G | c.673-36G>C | p.? | 6-intron | intronic | 17880604 | 17-7577644-C-G | 221184 | 9434876 | dbSNP150|gnomAD|1000G |
| g.7674361del | c.673-71del | p.? | 6-intron | intronic | 752774596 | 17-7577678-CT-C | None | dbSNP150|gnomAD | |
| g.7674377G>T | c.673-87C>A | p.? | 6-intron | intronic | 1328534495 | 17-7577695-G-T | None | dbSNP151|gnomAD | |
| g.7674164G>A | c.782+17C>T | p.? | 7-intron | intronic | 17880172 | 17-7577482-G-A | 137692 | dbSNP150|gnomAD|1000G | |
| g.7674109G>A | c.782+72C>T | p.? | 7-intron | intronic | 12947788 | 17-7577427-G-A | 1243351 | 1679931 | dbSNP150|gnomAD|1000G |
| g.7674089A>C | c.782+92T>G | p.? | 7-intron | intronic | 12951053 | 17-7577407-A-C | 1243959 | 11682637 | 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.7670579T>A | c.1100+30A>T | p.? | 10-intron | intronic | 17880847 | 17-7573897-T-A | 810938 | dbSNP150|gnomAD|1000G | |
| g.7669739G>A | c.1101-49C>T | p.? | 10-intron | intronic | 17881850 | 17-7573057-G-A | 1269578 | dbSNP150|gnomAD|1000G | |
| g.7669763C>G | c.1101-73G>C | p.? | 10-intron | intronic | 17883043 | 17-7573081-C-G | None | dbSNP150|gnomAD|1000G | |
| g.7669778C>T | c.1101-88G>A | p.? | 10-intron | intronic | 145723145 | 17-7573096-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7675763A>G | c.375+231T>C | p.? | 4-intron | intronic | 192748321 | 17-7579081-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7675690G>A | c.375+304C>T | p.? | 4-intron | intronic | 148535768 | 17-7579008-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7675337T>A | c.376-101A>T | p.? | 4-intron | intronic | 145153611 | 17-7578655-T-A | 1319321 | dbSNP150|gnomAD|1000G | |
| g.7675353C>T | c.376-117G>A | p.? | 4-intron | intronic | 35850753 | 17-7578671-C-T | 670316 | dbSNP150|gnomAD|1000G | |
| g.7675361A>G | c.376-125T>C | p.? | 4-intron | intronic | 9895829 | 17-7578679-A-G | 1245512 | dbSNP150|gnomAD|1000G | |
| g.7675397T>C | c.376-161A>G | p.? | 4-intron | intronic | 75821853 | 17-7578715-T-C | 1236480 | dbSNP150|gnomAD|1000G | |
| g.7675454T>G | c.376-218A>C | p.? | 4-intron | intronic | 563612371 | None | dbSNP150|1000G | ||
| g.7675504C>T | c.376-268G>A | p.? | 4-intron | intronic | 142163094 | 17-7578822-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7675519A>G | c.376-283T>C | p.? | 4-intron | intronic | 1794287 | 17-7578837-A-G | 695142 | dbSNP150|gnomAD|1000G | |
| g.7674665del | c.672+194del | p.? | 6-intron | intronic | 535243254 | 17-7577982-AG-A | None | dbSNP150|gnomAD|1000G | |
| g.7674639C>A | c.672+220G>T | p.? | 6-intron | intronic | 8069054 | 17-7577957-C-A | 677733 | dbSNP150|gnomAD|1000G | |
| g.7674459C>T | c.672+400G>A | p.? | 6-intron | intronic | 187553272 | 17-7577777-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7674447C>G | c.672+412G>C | p.? | 6-intron | intronic | 535242956 | 17-7577765-C-G | None | dbSNP150|gnomAD|1000G | |
| g.7674390G>A | c.673-100C>T | p.? | 6-intron | intronic | 183276131 | 17-7577708-G-A | 1187478 | dbSNP150|gnomAD|1000G | |
| g.7674391C>T | c.673-101G>A | p.? | 6-intron | intronic | 143536546 | 17-7577709-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7673394C>T | c.993+141G>A | p.? | 9-intron | intronic | 371592265 | 17-7576712-C-T | 224042 | dbSNP150|gnomAD|1000G | |
| g.7673183G>A | c.993+352C>T | p.? | 9-intron | intronic | 77697176 | 17-7576501-G-A | 1246968 | dbSNP150|gnomAD|1000G | |
| g.7673145G>A | c.993+390C>T | p.? | 9-intron | intronic | 1375871549 | 17-7576463-G-A | None | dbSNP151|gnomAD | |
| g.7673126del | c.993+409del | p.? | 9-intron | intronic | 1334090742 | 17-7576443-CA-C | 1259818 | dbSNP151|gnomAD | |
| g.7673125C>A | c.993+410G>T | p.? | 9-intron | intronic | 866365189 | 17-7576443-C-A | None | dbSNP150|gnomAD | |
| g.7673057G>A | c.993+478C>T | p.? | 9-intron | intronic | 563904209 | 17-7576375-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7673039C>T | c.993+496G>A | p.? | 9-intron | intronic | 139290680 | 17-7576357-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7673030C>T | c.993+505G>A | p.? | 9-intron | intronic | 75732100 | 17-7576348-C-T | 1237084 | dbSNP150|gnomAD|1000G | |
| g.7672971A>G | c.993+564T>C | p.? | 9-intron | intronic | 142074865 | 17-7576289-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7672962T>A | c.993+573A>T | p.? | 9-intron | intronic | 982690235 | 17-7576280-T-A | None | dbSNP150|gnomAD | |
| g.7672958T>A | c.993+577A>T | p.? | 9-intron | intronic | 60699444 | 17-7576276-T-A | 1288516 | dbSNP150|gnomAD|1000G | |
| g.7672958del | c.993+577del | p.? | 9-intron | intronic | 781465240 | 17-7576275-AT-A | None | dbSNP150|gnomAD | |
| g.7672947del | c.993+588del | p.? | 9-intron | intronic | 796129859 | 17-7576264-TA-T | None | dbSNP150|gnomAD | |
| g.7672833G>A | c.993+702C>T | p.? | 9-intron | intronic | 1642792 | 17-7576151-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7672826G>A | c.993+709C>T | p.? | 9-intron | intronic | 576653882 | 17-7576144-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7670997G>C | c.994-282C>G | p.? | 9-intron | intronic | 17883852 | 17-7574315-G-C | None | dbSNP150|gnomAD|1000G | |
| g.7671230T>C | c.994-515A>G | p.? | 9-intron | intronic | 17884322 | 17-7574548-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7671359T>C | c.994-644A>G | p.? | 9-intron | intronic | 374036485 | None | dbSNP150|1000G | ||
| g.7671403C>T | c.994-688G>A | p.? | 9-intron | intronic | 17879377 | 17-7574721-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7671457C>T | c.994-742G>A | p.? | 9-intron | intronic | 1641549 | 17-7574775-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7671461C>T | c.994-746G>A | p.? | 9-intron | intronic | 1641548 | 17-7574779-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7671546C>T | c.994-831G>A | p.? | 9-intron | intronic | 9891744 | 17-7574864-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7671618C>T | c.994-903G>A | p.? | 9-intron | intronic | 858528 | 17-7574936-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7670455G>C | c.1100+154C>G | p.? | 10-intron | intronic | 45599946 | 17-7573773-G-C | None | dbSNP150|gnomAD|1000G | |
| g.7670182G>A | c.1100+427C>T | p.? | 10-intron | intronic | 184902382 | 17-7573500-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7669890A>G | c.1101-200T>C | p.? | 10-intron | intronic | 576983083 | 17-7573208-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7669904T>C | c.1101-214A>G | p.? | 10-intron | intronic | 17886820 | 17-7573222-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7669911C>T | c.1101-221G>A | p.? | 10-intron | intronic | 6503048 | 17-7573229-C-T | 1269356 | dbSNP150|gnomAD|1000G | |
| g.7670065C>T | c.1101-375G>A | p.? | 10-intron | intronic | 59098034 | 17-7573383-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7670066G>A | c.1101-376C>T | p.? | 10-intron | intronic | 112847074 | 17-7573384-G-A | None | dbSNP150|gnomAD|1000G | |
| g.7670131C>T | c.1101-441G>A | p.? | 10-intron | intronic | 17881097 | 17-7573449-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7672415A>G | c.993+1120T>C | p.? | 9-intron | intronic | 12949655 | 17-7575733-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7672395A>T | c.993+1140T>A | p.? | 9-intron | intronic | 111537395 | 17-7575713-A-T | None | dbSNP150|gnomAD|1000G | |
| g.7672315A>G | c.993+1220T>C | p.? | 9-intron | intronic | 577924025 | 17-7575633-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7672246T>C | c.993+1289A>G | p.? | 9-intron | intronic | 1642793 | 17-7575564-T-C | None | dbSNP150|gnomAD|1000G | |
| g.7672196C>T | c.993+1339G>A | p.? | 9-intron | intronic | 146137066 | 17-7575514-C-T | None | dbSNP150|gnomAD|1000G | |
| g.7671805A>G | c.993+1730T>C | p.? | 9-intron | intronic | 542931290 | 17-7575123-A-G | None | dbSNP150|gnomAD|1000G | |
| g.7676337_7676341del | c.96+41_96+45del | p.? | 3-intron | intronic | 776639636 | 17-7579654-CCAGGT-C | 1697630 | dbSNP150|gnomAD | |
| g.7676326_7676341del | c.96+41_96+56del | p.? | 3-intron | intronic | 59758982 | 17-7579643-CCCCCAGCCCTCCAGGT-C | 440349 | 23412385 | gnomAD|1000G |
| g.7676324_7676334del | c.96+48_96+58del | p.? | 3-intron | intronic | 779035812 | 17-7579641-GCCCCCCAGCCC-G | None | dbSNP150|gnomAD | |
| g.7674360_7674361insT | c.673-71_673-70insA | p.? | 6-intron | intronic | 1167886601 | 17-7577678-C-CT | None | dbSNP151|gnomAD | |
| g.7675394_7675395del | c.376-159_376-158del | p.? | 4-intron | intronic | 796912487 | 17-7578711-CTT-C | 1213246 | dbSNP150|gnomAD | |
| g.7675394_7675397del | c.376-161_376-158del | p.? | 4-intron | intronic | 754750418 | 17-7578711-CTTTT-C | 803310 | dbSNP150|gnomAD | |
| g.7675394_7675398del | c.376-162_376-158del | p.? | 4-intron | intronic | 1371919544 | 17-7578711-CTTTTT-C | None | dbSNP151|gnomAD | |
| g.7675426_7675427del | c.376-191_376-190del | p.? | 4-intron | intronic | 17880765 | 17-7578743-GCT-G | None | dbSNP150|gnomAD|1000G | |
| g.7672947_7672948del | c.993+587_993+588del | p.? | 9-intron | intronic | 796129859 | 17-7576264-TAA-T | None | dbSNP150|gnomAD | |
| g.7674525_7674526insT | c.672+333_672+334insA | p.? | 6-intron | intronic | 539331761 | 17-7577843-A-AT | None | dbSNP150|gnomAD|1000G | |
| g.7673125_7673126insA | c.993+409_993+410insT | p.? | 9-intron | intronic | 772614038 | 17-7576443-C-CA | None | dbSNP150|gnomAD | |
| g.7672946_7672947insA | c.993+588_993+589insT | p.? | 9-intron | intronic | 1478779853 | 17-7576264-T-TA | None | dbSNP151|gnomAD | |
| g.7673125_7673126insAA | c.993+409_993+410insTT | p.? | 9-intron | intronic | 34308401 | 17-7576443-C-CAA | None | dbSNP151|gnomAD | |
| g.7673125_7673126insAAA | c.993+409_993+410insTTT | p.? | 9-intron | intronic | 34308401 | 17-7576443-C-CAAA | None | dbSNP151|gnomAD | |
| g.7673125_7673126insAAAAA | c.993+409_993+410insTTTTT | p.? | 9-intron | intronic | 772614038 | 17-7576443-C-CAAAAA | None | dbSNP151|gnomAD | |
| g.7676387C>T | c.91G>A | p.V31I | 3-exon | missense | 201753350 | 17-7579705-C-T | 127827 | 24728327 | 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 |
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