CYP2B6 cytochrome P450 family 2 subfamily B member 6

Canonical transcript: NM_000767

347 unique variant annotations were identified in 492 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
19-41497244-C-T c.34C>T p.Leu12Phe Missense 1/9 - 1
19-41497272-AGC-TGT c.62_64delinsTGT p.Gln21_Arg22delinsLeuCys MultiAAMissense 1/9 - 1
19-41497272-A-T c.62A>T p.Gln21Leu Missense 1/9 - 5
19-41497274-C-T c.64C>T p.Arg22Cys Missense 1/9 - 66
19-41497280-C-A c.70C>A p.Pro24Thr Missense 1/9 - 1
19-41497286-A-T c.76A>T p.Thr26Ser Missense 1/9 - 8
19-41497288-C-A c.78C>A p.Thr26Thr Synonymous 1/9 - 1
19-41497288-C-T c.78C>T p.Thr26Thr Synonymous 1/9 - 1
19-41497290-A-G c.80A>G p.His27Arg Missense 1/9 - 1
19-41497293-ACCG-GCAC c.83_86delinsGCAC p.Asp28_Arg29delinsGlyThr MultiAAMissense 1/9 - 1
19-41497293-A-G c.83A>G p.Asp28Gly Missense 1/9 - 6
19-41497295-C-A c.85C>A p.Arg29Ser Missense 1/9 - 6
19-41497295-CG-AC c.85_86delinsAC p.Arg29Thr Missense 1/9 - 4
19-41497295-C-T c.85C>T p.Arg29Cys Missense 1/9 - 6
19-41497296-G-A c.86G>A p.Arg29His Missense 1/9 - 2
19-41497296-G-C c.86G>C p.Arg29Pro Missense 1/9 - 2
19-41497335-A-C c.125A>C p.Asn42Thr Missense 1/9 - 1
19-41497335-A-G c.125A>G p.Asn42Ser Missense 1/9 - 1
19-41497346-A-G c.136A>G p.Met46Val Missense 1/9 - 27
19-41497346-A-T c.136A>T p.Met46Leu Missense 1/9 - 17
19-41497348-G-A c.138G>A p.Met46Ile Missense 1/9 - 3
19-41497348-G-C c.138G>C p.Met46Ile Missense 1/9 - 3
19-41497348-G-T c.138G>T p.Met46Ile Missense 1/9 - 3
19-41497351-T-C c.141T>C p.Asp47Asp Synonymous 1/9 - 1
19-41497507-C-T c.171+126C>T - IntronicSNV - 1/8 1
19-41497575-T-A c.171+194T>A - IntronicSNV - 1/8 1
19-41497997-C-T c.171+616C>T - IntronicSNV - 1/8 2
19-41498348-C-A c.171+967C>A - IntronicSNV - 1/8 9
19-41498733-T-C c.171+1352T>C - IntronicSNV - 1/8 5
19-41498946-G-A c.171+1565G>A - IntronicSNV - 1/8 1
19-41499094-A-G c.171+1713A>G - IntronicSNV - 1/8 1
19-41499816-G-A c.171+2435G>A - IntronicSNV - 1/8 1
19-41499989-A-G c.171+2608A>G - IntronicSNV - 1/8 7
19-41500057-G-A c.171+2676G>A - IntronicSNV - 1/8 2
19-41500213-T-C c.171+2832T>C - IntronicSNV - 1/8 18
19-41500300-T-C c.171+2919T>C - IntronicSNV - 1/8 4
19-41500593-C-A c.171+3212C>A - IntronicSNV - 1/8 2
19-41500593-C-G c.171+3212C>G - IntronicSNV - 1/8 2
19-41500593-C-T c.171+3212C>T - IntronicSNV - 1/8 3
19-41500915-A-C c.171+3534A>C - IntronicSNV - 1/8 1
19-41501303-C-T c.171+3922C>T - IntronicSNV - 1/8 1
19-41501716-T-C c.171+4335T>C - IntronicSNV - 1/8 1
19-41502522-T-C c.171+5141T>C - IntronicSNV - 1/8 3
19-41502602-G-A c.171+5221G>A - IntronicSNV - 1/8 4
19-41503022-C-G c.171+5641C>G - IntronicSNV - 1/8 1
19-41503022-C-T c.171+5641C>T - IntronicSNV - 1/8 1
19-41503239-C-A c.171+5858C>A - IntronicSNV - 1/8 1
19-41503245-C-G c.171+5864C>G - IntronicSNV - 1/8 2
19-41503245-C-T c.171+5864C>T - IntronicSNV - 1/8 2
19-41503404-A-C c.171+6023A>C - IntronicSNV - 1/8 4
19-41503404-A-T c.171+6023A>T - IntronicSNV - 1/8 4
19-41503460-C-T c.171+6079C>T - IntronicSNV - 1/8 2
19-41503622-A-C c.171+6241A>C - IntronicSNV - 1/8 2
19-41503622-A-G c.171+6241A>G - IntronicSNV - 1/8 2
19-41503708-A-C c.172-6198A>C - IntronicSNV - 1/8 2
19-41504077-C-G c.172-5829C>G - IntronicSNV - 1/8 6
19-41504077-C-T c.172-5829C>T - IntronicSNV - 1/8 6
19-41504511-A-G c.172-5395A>G - IntronicSNV - 1/8 1
19-41505238-A-T c.172-4668A>T - IntronicSNV - 1/8 2
19-41505653-G-A c.172-4253G>A - IntronicSNV - 1/8 2
19-41505708-C-A c.172-4198C>A - IntronicSNV - 1/8 2
19-41505708-C-T c.172-4198C>T - IntronicSNV - 1/8 2
19-41506191-T-C c.172-3715T>C - IntronicSNV - 1/8 5
19-41506953-C-A c.172-2953C>A - IntronicSNV - 1/8 3
19-41506953-C-G c.172-2953C>G - IntronicSNV - 1/8 3
19-41508020-C-A c.172-1886C>A - IntronicSNV - 1/8 11
19-41508020-C-G c.172-1886C>G - IntronicSNV - 1/8 11
19-41508442-T-C c.172-1464T>C - IntronicSNV - 1/8 5
19-41508744-G-A c.172-1162G>A - IntronicSNV - 1/8 3
19-41509033-G-A c.172-873G>A - IntronicSNV - 1/8 4
19-41509172-T-C c.172-734T>C - IntronicSNV - 1/8 1
19-41509438-T-G c.172-468T>G - IntronicSNV - 1/8 6
19-41509881-C-T c.172-25C>T - IntronicSNV - 1/8 1
19-41509906-T-C c.172T>C p.Phe58Leu Missense 2/9 - 1
19-41509908-C-A c.174C>A p.Phe58Leu Missense 2/9 - 1
19-41509908-C-G c.174C>G p.Phe58Leu Missense 2/9 - 1
19-41509912-GAG-TGT c.178_180delinsTGT p.Glu60Cys Missense 2/9 - 1
19-41509950-G-A c.216G>A p.Pro72Pro Synonymous 2/9 - 6
19-41509950-G-C c.216G>C p.Pro72Pro Synonymous 2/9 - 6
19-41509957-GTG-ATC c.223_225delinsATC p.Val75Ile Missense 2/9 - 1
19-41509969-T-A c.235T>A p.Cys79Ser Missense 2/9 - 1
19-41509970-G-C c.236G>C p.Cys79Ser Missense 2/9 - 1
19-41509975-GT-AC c.241_242inv p.Val81Thr Missense 2/9 - 1
19-41509984-A-G c.250A>G p.Ile84Val Missense 2/9 - 5
19-41510003-A-C c.269A>C p.Asp90Ala Missense 2/9 - 1
19-41510029-GG-AC c.295_296delinsAC p.Gly99Thr Missense 2/9 - 1
19-41510030-G-A c.296G>A p.Gly99Glu Missense 2/9 - 14
19-41510041-A-G c.307A>G p.Met103Val Missense 2/9 - 1
19-41510059-C-T c.325C>T p.Arg109Trp Missense 2/9 - 1
19-41510063-G-C c.329G>C p.Gly110Ala Missense 2/9 - 1
19-41510063-G-T c.329G>T p.Gly110Val Missense 2/9 - 1
19-41510127-A-G c.334+59A>G - IntronicSNV - 2/8 7
19-41510127-A-T c.334+59A>T - IntronicSNV - 2/8 7
19-41510207-A-G c.340A>G p.Ile114Val Missense 3/9 - 2
19-41510208-T-C c.341T>C p.Ile114Thr Missense 3/9 - 1
19-41510243-CG-GC c.376_377delinsGC p.Arg126Ala Missense 3/9 - 1
19-41510252-G-C c.385G>C p.Val129Leu Missense 3/9 - 1
19-41510252-G-T c.385G>T p.Val129Leu Missense 3/9 - 1
19-41510282-AA-GC c.415_416delinsGC p.Lys139Ala Missense 3/9 - 1
19-41510282-A-G c.415A>G p.Lys139Glu Missense 3/9 - 34
19-41510286-G-A c.419G>A p.Arg140Gln Missense 3/9 - 14
19-41510286-G-C c.419G>C p.Arg140Pro Missense 3/9 - 10
19-41510295-A-G c.428A>G p.Glu143Gly Missense 3/9 - 1
19-41510312-G-C c.445G>C p.Glu149Gln Missense 3/9 - 1
19-41510313-A-C c.446A>C p.Glu149Ala Missense 3/9 - 1
19-41510318-CA-AT c.451_452delinsAT p.Gln151Met Missense 3/9 - 1
19-41510321-GT-G c.454del p.Cys152Valfs*2 Frameshift 3/9 - 1
19-41510321-T-A c.454T>A p.Cys152Ser Missense 3/9 - 1
19-41510322-G-C c.455G>C p.Cys152Ser Missense 3/9 - 1
19-41510327-A-G c.460A>G p.Ile154Val Missense 3/9 - 1
19-41510340-G-A c.473G>A p.Arg158Gln Missense 3/9 - 1
19-41510636-G-A c.484+285G>A - IntronicSNV - 3/8 2
19-41510662-G-A c.484+311G>A - IntronicSNV - 3/8 2
19-41511803-C-G c.485-1007C>G - IntronicSNV - 3/8 12
19-41512692-C-T c.485-118C>T - IntronicSNV - 3/8 2
19-41512787-C-G c.485-23C>G - IntronicSNV - 3/8 2
19-41512792-C-T c.485-18C>T - IntronicSNV - 3/8 56
19-41512824-C-G c.499C>G p.Pro167Ala Missense 4/9 - 17
19-41512824-C-T c.499C>T p.Pro167Ser Missense 4/9 - 11
19-41512828-C-T c.503C>T p.Thr168Ile Missense 4/9 - 7
19-41512836-T-C c.511T>C p.Phe171Leu Missense 4/9 - 2
19-41512838-C-A c.513C>A p.Phe171Leu Missense 4/9 - 2
19-41512838-C-G c.513C>G p.Phe171Leu Missense 4/9 - 2
19-41512840-A-G c.515A>G p.Gln172Arg Missense 4/9 - 1
19-41512841-G-A c.516G>A p.Gln172Gln Synonymous 4/9 - 177
19-41512841-G-T c.516G>T p.Gln172His Missense 4/9 - 324
19-41512845-AT-GC c.520_521delinsGC p.Ile174Ala Missense 4/9 - 2
19-41512871-C-G c.546C>G p.Ile182Met Missense 4/9 - 1
19-41512871-C-T c.546C>T p.Ile182Ile Synonymous 4/9 - 1
19-41512872-G-A c.547G>A p.Val183Ile Missense 4/9 - 2
19-41512872-G-C c.547G>C p.Val183Leu Missense 4/9 - 1
19-41512873-T-G c.548T>G p.Val183Gly Missense 4/9 - 1
19-41512881-AA-GC c.556_557delinsGC p.Lys186Ala Missense 4/9 - 1
19-41512884-CG-AA c.559_560delinsAA p.Arg187Lys Missense 4/9 - 1
19-41512884-CG-GC c.559_560delinsGC p.Arg187Ala Missense 4/9 - 1
19-41512893-TA-GC c.568_569delinsGC p.Tyr190Ala Missense 4/9 - 1
19-41512894-A-T c.569A>T p.Tyr190Phe Missense 4/9 - 1
19-41512900-A-C c.575A>C p.Asp192Ala Missense 4/9 - 1
19-41512905-G-C c.580G>C p.Glu194Gln Missense 4/9 - 1
19-41512909-TC-GG c.584_585delinsGG p.Phe195Trp Missense 4/9 - 2
19-41512917-A-C c.592A>C p.Met198Leu Missense 4/9 - 2
19-41512917-A-T c.592A>T p.Met198Leu Missense 4/9 - 2
19-41512918-T-C c.593T>C p.Met198Thr Missense 4/9 - 15
19-41512924-A-C c.599A>C p.Asn200Thr Missense 4/9 - 1
19-41512929-T-C c.604T>C p.Phe202Leu Missense 4/9 - 2
19-41512929-TT-GC c.604_605delinsGC p.Phe202Ala Missense 4/9 - 1
19-41512931-C-A c.606C>A p.Phe202Leu Missense 4/9 - 2
19-41512931-C-G c.606C>G p.Phe202Leu Missense 4/9 - 2
19-41512930-TC-GG c.605_606delinsGG p.Phe202Trp Missense 4/9 - 2
19-41512938-AC-GT c.613_614inv p.Thr205Val Missense 4/9 - 1
19-41512941-T-C c.616T>C p.Phe206Leu Missense 4/9 - 1
19-41512941-TT-GC c.616_617delinsGC p.Phe206Ala Missense 4/9 - 1
19-41512943-T-A c.618T>A p.Phe206Leu Missense 4/9 - 1
19-41512943-T-G c.618T>G p.Phe206Leu Missense 4/9 - 1
19-41512951-T-G c.626T>G p.Ile209Ser Missense 4/9 - 1
19-41512957-C-CG c.632_633insG p.Val212Cysfs*7 Frameshift 4/9 - 1
19-41513613-T-C c.645+643T>C - IntronicSNV - 4/8 1
19-41514040-T-G c.645+1070T>G - IntronicSNV - 4/8 2
19-41514363-A-G c.646-761A>G - IntronicSNV - 4/8 2
19-41514627-G-A c.646-497G>A - IntronicSNV - 4/8 1
19-41514965-G-C c.646-159G>C - IntronicSNV - 4/8 2
19-41515107-C-G c.646-17C>G - IntronicSNV - 4/8 1
19-41515107-C-T c.646-17C>T - IntronicSNV - 4/8 2
19-41515139-T-G c.661T>G p.Ser221Ala Missense 5/9 - 1
19-41515154-T-C c.676T>C p.Tyr226His Missense 5/9 - 12
19-41515155-A-G c.677A>G p.Tyr226Cys Missense 5/9 - 8
19-41515157-T-C c.679T>C p.Phe227Leu Missense 5/9 - 7
19-41515159-T-A c.681T>A p.Phe227Leu Missense 5/9 - 7
19-41515159-T-G c.681T>G p.Phe227Leu Missense 5/9 - 7
19-41515178-G-A c.700G>A p.Val234Ile Missense 5/9 - 1
19-41515185-A-T c.707A>T p.Lys236Ile Missense 5/9 - 2
19-41515199-ATC-TGG c.721_723delinsTGG p.Ile241Trp Missense 5/9 - 2
19-41515209-AC-GG c.731_732delinsGG p.Tyr244Trp Missense 5/9 - 1
19-41515210-C-T c.732C>T p.Tyr244Tyr Synonymous 5/9 - 1
19-41515239-A-C c.761A>C p.Glu254Ala Missense 5/9 - 2
19-41515247-G-A c.769G>A p.Asp257Asn Missense 5/9 - 6
19-41515253-CA-C c.775del p.Ser259Alafs*73 Frameshift 5/9 - 1
19-41515255-C-A c.777C>A p.Ser259Arg Missense 5/9 - 23
19-41515255-C-T c.777C>T p.Ser259Ser Synonymous 5/9 - 13
19-41515256-G-A c.778G>A p.Ala260Thr Missense 5/9 - 1
19-41515256-G-T c.778G>T p.Ala260Ser Missense 5/9 - 1
19-41515262-AA-GC c.784_785delinsGC p.Lys262Ala Missense 5/9 - 1
19-41515263-A-G c.785A>G p.Lys262Arg Missense 5/9 - 171
19-41515268-C-T c.790C>T p.Leu264Phe Missense 5/9 - 5
19-41515281-A-G c.803A>G p.Tyr268Cys Missense 5/9 - 1
19-41515286-CT-TG c.808_809delinsTG p.Leu270Cys Missense 5/9 - 1
19-41515298-AA-GT c.820_821delinsGT p.Lys274Val Missense 5/9 - 1
19-41515483-G-A c.822+183G>A - IntronicSNV - 5/8 15
19-41515702-T-A c.823-197T>A - IntronicSNV - 5/8 23
19-41515702-T-C c.823-197T>C - IntronicSNV - 5/8 23
19-41515813-C-T c.823-86C>T - IntronicSNV - 5/8 2
19-41515814-G-A c.823-85G>A - IntronicSNV - 5/8 2
19-41515837-G-A c.823-62G>A - IntronicSNV - 5/8 7
19-41515894-C-A c.823-5C>A - IntronicSNV - 5/8 1
19-41515894-C-T c.823-5C>T - IntronicSNV - 5/8 1
19-41515911-G-C c.835G>C p.Ala279Pro Missense 6/9 - 1
19-41515919-T-G c.843T>G p.Ser281Arg Missense 6/9 - 1
19-41515926-AG-CA c.850_851delinsCA p.Ser284His Missense 6/9 - 1
19-41515937-C-T c.861C>T p.Asn287Asn Synonymous 6/9 - 1
19-41515942-A-T c.866A>T p.Asn289Ile Missense 6/9 - 1
19-41515943-C-G c.867C>G p.Asn289Lys Missense 6/9 - 1
19-41515943-C-T c.867C>T p.Asn289Asn Synonymous 6/9 - 1
19-41515944-C-A c.868C>A p.Leu290Ile Missense 6/9 - 1
19-41515952-G-A c.876G>A p.Thr292Thr Synonymous 6/9 - 2
19-41515952-G-T c.876G>T p.Thr292Thr Synonymous 6/9 - 2
19-41515960-T-A c.884T>A p.Leu295His Missense 6/9 - 3
19-41515965-TT-GC c.889_890delinsGC p.Phe297Ala Missense 6/9 - 1
19-41515980-AC-GT c.904_905inv p.Thr302Val Missense 6/9 - 1
19-41515980-A-G c.904A>G p.Thr302Ala Missense 6/9 - 2
19-41515984-C-T c.908C>T p.Thr303Ile Missense 6/9 - 1
19-41515993-C-G c.917C>G p.Thr306Ser Missense 6/9 - 2
19-41515993-C-T c.917C>T p.Thr306Ile Missense 6/9 - 2
19-41516002-A-G c.926A>G p.Tyr309Cys Missense 6/9 - 1
19-41516009-C-T c.933C>T p.Phe311Phe Synonymous 6/9 - 1
19-41516013-C-A c.937C>A p.Leu313Ile Missense 6/9 - 1
19-41516182-C-T c.964+142C>T - IntronicSNV - 6/8 4
19-41516722-T-C c.964+682T>C - IntronicSNV - 6/8 2
19-41516946-T-G c.964+906T>G - IntronicSNV - 6/8 1
19-41517688-T-A c.965-515T>A - IntronicSNV - 6/8 3
19-41517688-T-C c.965-515T>C - IntronicSNV - 6/8 3
19-41518007-G-C c.965-196G>C - IntronicSNV - 6/8 3
19-41518007-G-T c.965-196G>T - IntronicSNV - 6/8 3
19-41518078-C-T c.965-125C>T - IntronicSNV - 6/8 1
19-41518211-TAC-CAA c.973_975delinsCAA p.Tyr325Gln Missense 7/9 - 2
19-41518213-C-A c.975C>A p.Tyr325* Nonsense 7/9 - 1
19-41518215-G-A c.977G>A p.Arg326Lys Missense 7/9 - 1
19-41518221-T-C c.983T>C p.Ile328Thr Missense 7/9 - 142
19-41518223-G-C c.985G>C p.Glu329Gln Missense 7/9 - 1
19-41518229-GTG-ATC c.991_993delinsATC p.Val331Ile Missense 7/9 - 1
19-41518232-A-G c.994A>G p.Ile332Val Missense 7/9 - 1
19-41518238-C-T c.1000C>T p.Pro334Ser Missense 7/9 - 2
19-41518244-C-T c.1006C>T p.Arg336Cys Missense 7/9 - 10
19-41518254-A-C c.1016A>C p.Glu339Ala Missense 7/9 - 2
19-41518255-G-A c.1017G>A p.Glu339Glu Synonymous 7/9 - 1
19-41518255-G-C c.1017G>C p.Glu339Asp Missense 7/9 - 1
19-41518259-C-G c.1021C>G p.His341Asp Missense 7/9 - 2
19-41518288-G-C c.1050G>C p.Glu350Asp Missense 7/9 - 1
19-41518288-G-T c.1050G>T p.Glu350Asp Missense 7/9 - 1
19-41518298-TA-CG c.1060_1061delinsCG p.Tyr354Arg Missense 7/9 - 1
19-41518298-T-C c.1060T>C p.Tyr354His Missense 7/9 - 1
19-41518299-A-G c.1061A>G p.Tyr354Cys Missense 7/9 - 1
19-41518316-T-G c.1078T>G p.Ser360Ala Missense 7/9 - 3
19-41518325-C-G c.1087C>G p.Leu363Val Missense 7/9 - 2
19-41518331-A-G c.1093A>G p.Met365Val Missense 7/9 - 2
19-41518338-T-C c.1100T>C p.Val367Ala Missense 7/9 - 2
19-41518370-C-T c.1132C>T p.Arg378* Nonsense 7/9 - 16
19-41518380-T-C c.1142T>C p.Ile381Thr Missense 7/9 - 1
19-41518386-C-G c.1148C>G p.Pro383Arg Missense 7/9 - 1
19-41518573-C-T c.1153-6C>T - IntronicSNV - 7/8 1
19-41518595-T-C c.1169T>C p.Leu390Pro Missense 8/9 - 3
19-41518598-T-A c.1172T>A p.Ile391Asn Missense 8/9 - 27
19-41518606-A-T c.1180A>T p.Thr394Ser Missense 8/9 - 1
19-41518607-C-G c.1181C>G p.Thr394Ser Missense 8/9 - 1
19-41518616-A-G c.1190A>G p.His397Arg Missense 8/9 - 2
19-41518633-G-A c.1207G>A p.Glu403Lys Missense 8/9 - 1
19-41518644-C-A c.1218C>A p.Asp406Glu Missense 8/9 - 1
19-41518644-C-T c.1218C>T p.Asp406Asp Synonymous 8/9 - 1
19-41518645-G-A c.1219G>A p.Ala407Thr Missense 8/9 - 1
19-41518648-T-C c.1222T>C p.Phe408Leu Missense 8/9 - 1
19-41518650-C-A c.1224C>A p.Phe408Leu Missense 8/9 - 1
19-41518650-C-G c.1224C>G p.Phe408Leu Missense 8/9 - 1
19-41518662-C-T c.1236C>T p.His412His Synonymous 8/9 - 2
19-41518684-CTG-TGT c.1258_1260delinsTGT p.Leu420Cys Missense 8/9 - 1
19-41518694-C-A c.1268C>A p.Thr423Asn Missense 8/9 - 1
19-41518707-C-G c.1281C>G p.Ile427Met Missense 8/9 - 1
19-41518708-C-A c.1282C>A p.Pro428Thr Missense 8/9 - 9
19-41518708-C-T c.1282C>T p.Pro428Ser Missense 8/9 - 1
19-41518717-T-A c.1291T>A p.Leu431Ile Missense 8/9 - 1
19-41518773-C-T c.1294+53C>T - IntronicSNV - 8/8 37
19-41519306-G-A c.1294+586G>A - IntronicSNV - 8/8 3
19-41519306-G-T c.1294+586G>T - IntronicSNV - 8/8 2
19-41519568-T-C c.1294+848T>C - IntronicSNV - 8/8 1
19-41519715-A-C c.1294+995A>C - IntronicSNV - 8/8 5
19-41519715-A-T c.1294+995A>T - IntronicSNV - 8/8 5
19-41520142-A-G c.1294+1422A>G - IntronicSNV - 8/8 2
19-41520351-C-T c.1294+1631C>T - IntronicSNV - 8/8 4
19-41520844-A-C c.1295-1707A>C - IntronicSNV - 8/8 5
19-41520844-A-T c.1295-1707A>T - IntronicSNV - 8/8 5
19-41521527-A-G c.1295-1024A>G - IntronicSNV - 8/8 2
19-41521638-G-A c.1295-913G>A - IntronicSNV - 8/8 16
19-41521704-C-G c.1295-847C>G - IntronicSNV - 8/8 2
19-41521746-C-A c.1295-805C>A - IntronicSNV - 8/8 1
19-41521746-C-G c.1295-805C>G - IntronicSNV - 8/8 1
19-41521757-C-G c.1295-794C>G - IntronicSNV - 8/8 4
19-41521939-G-T c.1295-612G>T - IntronicSNV - 8/8 5
19-41522069-G-C c.1295-482G>C - IntronicSNV - 8/8 2
19-41522451-A-G c.1295-100A>G - IntronicSNV - 8/8 2
19-41522565-CT-GC c.1309_1310delinsGC p.Leu437Ala Missense 9/9 - 1
19-41522565-CTT-GAG c.1309_1311delinsGAG p.Leu437Glu Missense 9/9 - 1
19-41522631-A-G c.1375A>G p.Met459Val Missense 9/9 - 8
19-41522651-A-T c.1395A>T p.Pro465Pro Synonymous 9/9 - 1
19-41522667-A-ATGCCCACTG c.1411_1412insTGCCCACTG p.Thr471delinsMetProThrAla MultiAAMissense 9/9 - 1
19-41522673-C-A c.1417C>A p.Gln473Lys Missense 9/9 - 2
19-41522679-T-A c.1423T>A p.Cys475Ser Missense 9/9 - 2
19-41522680-G-C c.1424G>C p.Cys475Ser Missense 9/9 - 2
19-41522683-G-A c.1427G>A p.Gly476Asp Missense 9/9 - 1
19-41522688-G-A c.1432G>A p.Gly478Ser Missense 9/9 - 1
19-41522689-G-C c.1433G>C p.Gly478Ala Missense 9/9 - 2
19-41522694-A-G c.1438A>G p.Ile480Val Missense 9/9 - 2
19-41522707-A-G c.1451A>G p.Tyr484Cys Missense 9/9 - 1
19-41522715-C-A c.1459C>A p.Arg487Ser Missense 9/9 - 61
19-41522715-C-T c.1459C>T p.Arg487Cys Missense 9/9 - 122
19-41522716-G-T c.1460G>T p.Arg487Leu Missense 9/9 - 1
19-41522758-G-A c.*26G>A - 3-UTRSNV 9/9 - 1
19-41522783-G-A c.*51G>A - 3-UTRSNV 9/9 - 1
19-41522804-G-A c.*72G>A - 3-UTRSNV 9/9 - 2
19-41522840-A-G c.*108A>G - 3-UTRSNV 9/9 - 1
19-41522870-C-A c.*138C>A - 3-UTRSNV 9/9 - 3
19-41522885-A-G c.*153A>G - 3-UTRSNV 9/9 - 1
19-41522888-T-G c.*156T>G - 3-UTRSNV 9/9 - 1
19-41522894-G-A c.*162G>A - 3-UTRSNV 9/9 - 1
19-41522901-C-G c.*169C>G - 3-UTRSNV 9/9 - 1
19-41523008-C-T c.*276C>T - 3-UTRSNV 9/9 - 1
19-41523016-C-T c.*284C>T - 3-UTRSNV 9/9 - 3
19-41523076-T-A c.*344T>A - 3-UTRSNV 9/9 - 1
19-41523077-A-G c.*345A>G - 3-UTRSNV 9/9 - 1
19-41523092-C-T c.*360C>T - 3-UTRSNV 9/9 - 1
19-41523093-A-G c.*361A>G - 3-UTRSNV 9/9 - 1
19-41523096-C-T c.*364C>T - 3-UTRSNV 9/9 - 1
19-41523097-A-G c.*365A>G - 3-UTRSNV 9/9 - 1
19-41523113-A-G c.*381A>G - 3-UTRSNV 9/9 - 1
19-41523152-A-T c.*420A>T - 3-UTRSNV 9/9 - 1
19-41523154-G-A c.*422G>A - 3-UTRSNV 9/9 - 1
19-41523238-G-A c.*506G>A - 3-UTRSNV 9/9 - 1
19-41523254-A-G c.*522A>G - 3-UTRSNV 9/9 - 5
19-41523303-T-C c.*571T>C - 3-UTRSNV 9/9 - 6
19-41523303-T-G c.*571T>G - 3-UTRSNV 9/9 - 6
19-41523531-C-T c.*799C>T - 3-UTRSNV 9/9 - 1
19-41523560-G-T c.*828G>T - 3-UTRSNV 9/9 - 3
19-41523705-A-G c.*973A>G - 3-UTRSNV 9/9 - 1
19-41523752-A-G c.*1020A>G - 3-UTRSNV 9/9 - 2
19-41523804-G-T c.*1072G>T - 3-UTRSNV 9/9 - 2
19-41523821-C-G c.*1089C>G - 3-UTRSNV 9/9 - 1
19-41523865-T-C c.*1133T>C - 3-UTRSNV 9/9 - 1
19-41523921-C-G c.*1189C>G - 3-UTRSNV 9/9 - 1
19-41523987-G-A c.*1255G>A - 3-UTRSNV 9/9 - 2
19-41523987-G-C c.*1255G>C - 3-UTRSNV 9/9 - 2
19-41524009-A-T c.*1277A>T - 3-UTRSNV 9/9 - 5
19-41524063-T-A c.*1331T>A - 3-UTRSNV 9/9 - 1
19-41524063-T-C c.*1331T>C - 3-UTRSNV 9/9 - 1
19-41524087-A-C c.*1355A>C - 3-UTRSNV 9/9 - 13
19-41524087-A-G c.*1355A>G - 3-UTRSNV 9/9 - 13
19-41524131-A-C c.*1399A>C - 3-UTRSNV 9/9 - 3
19-41524131-AG-CA c.*1399_*1400delinsCA - 3-UTRBlockSubstitution 9/9 - 2
19-41524132-G-A c.*1400G>A - 3-UTRSNV 9/9 - 1
19-41524153-T-C c.*1421T>C - 3-UTRSNV 9/9 - 19
19-41524175-A-G c.*1443A>G - 3-UTRSNV 9/9 - 1