HMCN1 hemicentin 1

Canonical transcript: NM_031935

297 unique variant annotations were identified in 150 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-185703917-T-A c.6T>A p.Ile2Ile Synonymous 1/107 - 1
1-185703917-T-C c.6T>C p.Ile2Ile Synonymous 1/107 - 1
1-185703942-TT-CG c.31_32delinsCG p.Phe11Arg Missense 1/107 - 1
1-185703963-T-G c.52T>G p.Ser18Ala Missense 1/107 - 1
1-185704020-G-A c.109G>A p.Glu37Lys Missense 1/107 - 1
1-185704074-G-T c.163G>T p.Asp55Tyr Missense 1/107 - 1
1-185704119-TC-AA c.208_209delinsAA p.Ser70Asn Missense 1/107 - 1
1-185715394-C-T c.268+11215C>T - IntronicSNV - 1/106 1
1-185723352-C-T c.268+19173C>T - IntronicSNV - 1/106 1
1-185724616-C-T c.268+20437C>T - IntronicSNV - 1/106 1
1-185728155-C-T c.268+23976C>T - IntronicSNV - 1/106 1
1-185731123-G-A c.268+26944G>A - IntronicSNV - 1/106 1
1-185735913-G-A c.268+31734G>A - IntronicSNV - 1/106 5
1-185735913-G-T c.268+31734G>T - IntronicSNV - 1/106 5
1-185749874-C-T c.268+45695C>T - IntronicSNV - 1/106 2
1-185754367-G-C c.268+50188G>C - IntronicSNV - 1/106 1
1-185789416-A-G c.269-25742A>G - IntronicSNV - 1/106 1
1-185794883-G-A c.269-20275G>A - IntronicSNV - 1/106 1
1-185794931-A-G c.269-20227A>G - IntronicSNV - 1/106 1
1-185821218-C-T c.339+5990C>T - IntronicSNV - 2/106 1
1-185833622-A-C c.360A>C p.Glu120Asp Missense 3/107 - 1
1-185833622-A-T c.360A>T p.Glu120Asp Missense 3/107 - 1
1-185833665-C-T c.403C>T p.Pro135Ser Missense 3/107 - 1
1-185833707-G-A c.445G>A p.Asp149Asn Missense 3/107 - 1
1-185833713-C-G c.451C>G p.Arg151Gly Missense 3/107 - 1
1-185833714-GG-AT c.452_453delinsAT p.Arg151His Missense 3/107 - 1
1-185834993-G-A c.619G>A p.Glu207Lys Missense 4/107 - 1
1-185843700-G-A c.621+8705G>A - IntronicSNV - 4/106 1
1-185866844-G-A c.622-11625G>A - IntronicSNV - 4/106 2
1-185866844-G-C c.622-11625G>C - IntronicSNV - 4/106 2
1-185866844-G-T c.622-11625G>T - IntronicSNV - 4/106 2
1-185872823-A-T c.622-5646A>T - IntronicSNV - 4/106 3
1-185878454-C-T c.622-15C>T - IntronicSNV - 4/106 1
1-185878490-G-A c.643G>A p.Ala215Thr Missense 5/107 - 1
1-185878583-G-T c.736G>T p.Glu246* Nonsense 5/107 - 1
1-185878632-A-C c.785A>C p.Asn262Thr Missense 5/107 - 1
1-185878632-A-G c.785A>G p.Asn262Ser Missense 5/107 - 1
1-185881528-A-G c.900+616A>G - IntronicSNV - 6/106 1
1-185886151-A-G c.900+5239A>G - IntronicSNV - 6/106 1
1-185891551-T-C c.941T>C p.Leu314Pro Missense 7/107 - 2
1-185891562-G-A c.952G>A p.Asp318Asn Missense 7/107 - 1
1-185891584-G-A c.974G>A p.Arg325Gln Missense 7/107 - 1
1-185892776-A-T c.1276A>T p.Ile426Phe Missense 8/107 - 1
1-185897782-C-T c.1535C>T p.Thr512Ile Missense 10/107 - 1
1-185901723-C-G c.1553-958C>G - IntronicSNV - 10/106 1
1-185901723-C-T c.1553-958C>T - IntronicSNV - 10/106 1
1-185901995-C-T c.1553-686C>T - IntronicSNV - 10/106 1
1-185902704-C-T c.1576C>T p.Pro526Ser Missense 11/107 - 1
1-185902738-C-G c.1610C>G p.Ala537Gly Missense 11/107 - 1
1-185902818-G-C c.1690G>C p.Glu564Gln Missense 11/107 - 1
1-185903450-T-C c.1828+494T>C - IntronicSNV - 11/106 1
1-185906206-C-T c.1828+3250C>T - IntronicSNV - 11/106 1
1-185915391-G-A c.1828+12435G>A - IntronicSNV - 11/106 1
1-185931645-T-A c.1829-5T>A - IntronicSNV - 11/106 1
1-185931782-G-T c.1961G>T p.Gly654Val Missense 12/107 - 1
1-185933007-A-T c.2078A>T p.Asn693Ile Missense 13/107 - 1
1-185934954-G-T c.2119G>T p.Val707Phe Missense 14/107 - 1
1-185934999-G-A c.2164G>A p.Glu722Lys Missense 14/107 - 1
1-185939601-G-A c.2347G>A p.Gly783Ser Missense 15/107 - 1
1-185946967-G-A c.2420G>A p.Gly807Asp Missense 16/107 - 1
1-185947029-AGA-TGT c.2482_2484delinsTGT p.Arg828Cys Missense 16/107 - 1
1-185947031-A-C c.2484A>C p.Arg828Ser Missense 16/107 - 1
1-185947031-A-T c.2484A>T p.Arg828Ser Missense 16/107 - 1
1-185951514-C-T c.2783C>T p.Ser928Leu Missense 18/107 - 1
1-185962434-T-A c.3498T>A p.Asn1166Lys Missense 23/107 - 1
1-185962434-T-G c.3498T>G p.Asn1166Lys Missense 23/107 - 1
1-185962436-T-A c.3500T>A p.Val1167Asp Missense 23/107 - 1
1-185963990-A-C c.3549A>C p.Gln1183His Missense 24/107 - 1
1-185963990-A-T c.3549A>T p.Gln1183His Missense 24/107 - 1
1-185964136-C-T c.3695C>T p.Thr1232Met Missense 24/107 - 2
1-185969201-G-A c.3899G>A p.Trp1300* Nonsense 26/107 - 1
1-185969202-G-A c.3900G>A p.Trp1300* Nonsense 26/107 - 1
1-185969290-C-T c.3988C>T p.Pro1330Ser Missense 26/107 - 1
1-185970523-CC-C c.4163del p.Pro1388Hisfs*14 Frameshift 27/107 - 1
1-185976299-C-G c.4515C>G p.Asp1505Glu Missense 30/107 - 1
1-185976330-C-T c.4546C>T p.Arg1516Trp Missense 30/107 - 1
1-185976370-A-G c.4586A>G p.Asn1529Ser Missense 30/107 - 3
1-185984479-C-T c.4819C>T p.Arg1607* Nonsense 31/107 - 1
1-185984517-T-C c.4857T>C p.His1619His Synonymous 31/107 - 1
1-185986199-A-G c.5296A>G p.Ile1766Val Missense 33/107 - 1
1-185988684-A-G c.5482A>G p.Ile1828Val Missense 35/107 - 1
1-185992658-A-C c.5749+373A>C - IntronicSNV - 36/106 2
1-185992658-A-T c.5749+373A>T - IntronicSNV - 36/106 2
1-186007990-C-T c.5881C>T p.Leu1961Phe Missense 38/107 - 1
1-186008920-G-A c.6089G>A p.Arg2030Lys Missense 39/107 - 1
1-186008926-A-G c.6095A>G p.Glu2032Gly Missense 39/107 - 1
1-186008985-G-C c.6154G>C p.Val2052Leu Missense 39/107 - 1
1-186010161-G-A c.6197G>A p.Arg2066Gln Missense 40/107 - 1
1-186010193-G-A c.6229G>A p.Asp2077Asn Missense 40/107 - 1
1-186014876-G-A c.6361G>A p.Val2121Met Missense 41/107 - 1
1-186014898-A-G c.6383A>G p.Asp2128Gly Missense 41/107 - 1
1-186014980-T-TCC c.6465_6466insCC p.Arg2156Profs*5 Frameshift 41/107 - 1
1-186015365-C-T c.6480+370C>T - IntronicSNV - 41/106 1
1-186016841-T-C c.6481-1034T>C - IntronicSNV - 41/106 1
1-186024579-G-A c.6917G>A p.Arg2306Gln Missense 45/107 - 1
1-186024643-G-A c.6981G>A p.Met2327Ile Missense 45/107 - 1
1-186024643-G-T c.6981G>T p.Met2327Ile Missense 45/107 - 1
1-186024654-A-G c.6992A>G p.His2331Arg Missense 45/107 - 1
1-186024704-C-A c.7042C>A p.Leu2348Ile Missense 45/107 - 1
1-186026366-C-T c.7145C>T p.Ala2382Val Missense 46/107 - 1
1-186026384-G-A c.7163G>A p.Gly2388Glu Missense 46/107 - 1
1-186026474-T-C c.7253T>C p.Ile2418Thr Missense 46/107 - 2
1-186031015-A-G c.7345A>G p.Met2449Val Missense 47/107 - 1
1-186031041-C-T c.7371C>T p.Cys2457Cys Synonymous 47/107 - 1
1-186031809-A-T c.7513+77A>T - IntronicSNV - 48/106 1
1-186034533-G-C c.7677G>C p.Lys2559Asn Missense 49/107 - 1
1-186034543-T-G c.7687T>G p.Phe2563Val Missense 49/107 - 1
1-186034964-C-A c.7705+403C>A - IntronicSNV - 49/106 1
1-186036398-T-C c.7706-568T>C - IntronicSNV - 49/106 2
1-186037691-A-T c.7879+552A>T - IntronicSNV - 50/106 1
1-186037769-G-A c.7879+630G>A - IntronicSNV - 50/106 1
1-186037949-C-A c.7879+810C>A - IntronicSNV - 50/106 1
1-186037949-C-G c.7879+810C>G - IntronicSNV - 50/106 1
1-186037949-C-T c.7879+810C>T - IntronicSNV - 50/106 1
1-186038467-C-A c.7880-328C>A - IntronicSNV - 50/106 1
1-186038467-C-T c.7880-328C>T - IntronicSNV - 50/106 1
1-186038870-C-T c.7955C>T p.Ala2652Val Missense 51/107 - 1
1-186039006-C-T c.7993+98C>T - IntronicSNV - 51/106 1
1-186039340-G-A c.7994-404G>A - IntronicSNV - 51/106 1
1-186039428-G-A c.7994-316G>A - IntronicSNV - 51/106 1
1-186039844-G-A c.8094G>A p.Ala2698Ala Synonymous 52/107 - 1
1-186040062-G-A c.8139+173G>A - IntronicSNV - 52/106 1
1-186040062-G-C c.8139+173G>C - IntronicSNV - 52/106 1
1-186042623-C-T c.8140-1250C>T - IntronicSNV - 52/106 1
1-186043232-G-T c.8140-641G>T - IntronicSNV - 52/106 1
1-186043883-C-T c.8150C>T p.Ser2717Phe Missense 53/107 - 1
1-186044237-G-A c.8290+214G>A - IntronicSNV - 53/106 1
1-186044847-T-C c.8291-713T>C - IntronicSNV - 53/106 1
1-186045280-C-A c.8291-280C>A - IntronicSNV - 53/106 2
1-186045280-C-G c.8291-280C>G - IntronicSNV - 53/106 2
1-186046748-G-A c.8486-491G>A - IntronicSNV - 54/106 1
1-186047344-G-C c.8591G>C p.Arg2864Pro Missense 55/107 - 1
1-186048208-T-G c.8599+856T>G - IntronicSNV - 55/106 2
1-186050417-A-G c.8678A>G p.Glu2893Gly Missense 56/107 - 2
1-186051168-A-G c.8787+642A>G - IntronicSNV - 56/106 1
1-186051168-A-T c.8787+642A>T - IntronicSNV - 56/106 1
1-186052024-G-A c.8815G>A p.Gly2939Ser Missense 57/107 - 1
1-186052962-C-A c.8884+869C>A - IntronicSNV - 57/106 2
1-186052962-C-G c.8884+869C>G - IntronicSNV - 57/106 2
1-186052962-C-T c.8884+869C>T - IntronicSNV - 57/106 2
1-186053171-C-T c.8884+1078C>T - IntronicSNV - 57/106 1
1-186053440-A-G c.8884+1347A>G - IntronicSNV - 57/106 1
1-186054055-A-G c.8885-1323A>G - IntronicSNV - 57/106 1
1-186054796-A-G c.8885-582A>G - IntronicSNV - 57/106 1
1-186055177-A-G c.8885-201A>G - IntronicSNV - 57/106 1
1-186055177-A-T c.8885-201A>T - IntronicSNV - 57/106 1
1-186055371-A-C c.8885-7A>C - IntronicSNV - 57/106 1
1-186055371-A-G c.8885-7A>G - IntronicSNV - 57/106 2
1-186056393-G-A c.9091G>A p.Gly3031Ser Missense 59/107 - 1
1-186057762-G-A c.9602G>A p.Arg3201His Missense 63/107 - 1
1-186057762-G-C c.9602G>C p.Arg3201Pro Missense 63/107 - 1
1-186059551-A-G c.9728-339A>G - IntronicSNV - 63/106 1
1-186059938-T-C c.9776T>C p.Leu3259Pro Missense 64/107 - 1
1-186060001-G-A c.9839G>A p.Trp3280* Nonsense 64/107 - 1
1-186060046-T-G c.9884T>G p.Ile3295Ser Missense 64/107 - 1
1-186061099-G-A c.9887+1050G>A - IntronicSNV - 64/106 1
1-186061099-G-T c.9887+1050G>T - IntronicSNV - 64/106 1
1-186061950-G-A c.9888-316G>A - IntronicSNV - 64/106 1
1-186063143-A-T c.10197-265A>T - IntronicSNV - 66/106 1
1-186063449-G-T c.10238G>T p.Cys3413Phe Missense 67/107 - 1
1-186063863-T-C c.10294+358T>C - IntronicSNV - 67/106 1
1-186064443-A-G c.10363A>G p.Met3455Val Missense 68/107 - 1
1-186064446-G-A c.10366G>A p.Ala3456Thr Missense 68/107 - 1
1-186064582-C-T c.10502C>T p.Ser3501Leu Missense 68/107 - 1
1-186064781-A-C c.10573+128A>C - IntronicSNV - 68/106 1
1-186064781-A-T c.10573+128A>T - IntronicSNV - 68/106 1
1-186064858-A-C c.10573+205A>C - IntronicSNV - 68/106 1
1-186064868-A-C c.10573+215A>C - IntronicSNV - 68/106 1
1-186064868-A-G c.10573+215A>G - IntronicSNV - 68/106 1
1-186065216-C-G c.10573+563C>G - IntronicSNV - 68/106 1
1-186065216-C-T c.10573+563C>T - IntronicSNV - 68/106 1
1-186065382-C-T c.10573+729C>T - IntronicSNV - 68/106 1
1-186065539-T-G c.10573+886T>G - IntronicSNV - 68/106 1
1-186067296-A-C c.10573+2643A>C - IntronicSNV - 68/106 1
1-186067895-A-G c.10573+3242A>G - IntronicSNV - 68/106 1
1-186068248-A-G c.10573+3595A>G - IntronicSNV - 68/106 1
1-186068248-A-T c.10573+3595A>T - IntronicSNV - 68/106 1
1-186068597-A-G c.10573+3944A>G - IntronicSNV - 68/106 1
1-186069140-C-T c.10574-3464C>T - IntronicSNV - 68/106 1
1-186070778-A-G c.10574-1826A>G - IntronicSNV - 68/106 1
1-186070778-A-T c.10574-1826A>T - IntronicSNV - 68/106 1
1-186070902-A-G c.10574-1702A>G - IntronicSNV - 68/106 1
1-186071053-T-A c.10574-1551T>A - IntronicSNV - 68/106 1
1-186071053-T-G c.10574-1551T>G - IntronicSNV - 68/106 1
1-186072648-G-A c.10618G>A p.Val3540Ile Missense 69/107 - 2
1-186072712-C-T c.10682C>T p.Thr3561Ile Missense 69/107 - 1
1-186072727-G-A c.10697G>A p.Gly3566Asp Missense 69/107 - 1
1-186073181-C-A c.10770+381C>A - IntronicSNV - 69/106 1
1-186074918-A-G c.10771-1098A>G - IntronicSNV - 69/106 2
1-186074918-A-T c.10771-1098A>T - IntronicSNV - 69/106 2
1-186075520-C-G c.10771-496C>G - IntronicSNV - 69/106 1
1-186075520-C-T c.10771-496C>T - IntronicSNV - 69/106 1
1-186076291-C-T c.10852+194C>T - IntronicSNV - 70/106 1
1-186077302-C-A c.10853-291C>A - IntronicSNV - 70/106 1
1-186077463-A-G c.10853-130A>G - IntronicSNV - 70/106 1
1-186077463-A-T c.10853-130A>T - IntronicSNV - 70/106 1
1-186080269-G-C c.10990-1675G>C - IntronicSNV - 71/106 1
1-186080269-G-T c.10990-1675G>T - IntronicSNV - 71/106 1
1-186080270-G-A c.10990-1674G>A - IntronicSNV - 71/106 1
1-186080270-G-T c.10990-1674G>T - IntronicSNV - 71/106 1
1-186081918-C-T c.10990-26C>T - IntronicSNV - 71/106 1
1-186082316-C-A c.11131+231C>A - IntronicSNV - 72/106 2
1-186082316-C-G c.11131+231C>G - IntronicSNV - 72/106 2
1-186082509-C-T c.11131+424C>T - IntronicSNV - 72/106 1
1-186082632-G-A c.11132-479G>A - IntronicSNV - 72/106 2
1-186083126-A-C c.11147A>C p.Lys3716Thr Missense 73/107 - 1
1-186083534-C-T c.11276+279C>T - IntronicSNV - 73/106 1
1-186083536-C-A c.11276+281C>A - IntronicSNV - 73/106 1
1-186084072-G-A c.11398G>A p.Val3800Ile Missense 74/107 - 1
1-186085768-T-C c.11562-358T>C - IntronicSNV - 75/106 1
1-186085897-C-A c.11562-229C>A - IntronicSNV - 75/106 1
1-186086578-G-A c.11684-13G>A - IntronicSNV - 76/106 1
1-186086578-G-T c.11684-13G>T - IntronicSNV - 76/106 1
1-186086663-C-A c.11756C>A p.Thr3919Asn Missense 77/107 - 1
1-186086704-A-T c.11797A>T p.Asn3933Tyr Missense 77/107 - 1
1-186087544-G-C c.11849-779G>C - IntronicSNV - 77/106 1
1-186088401-C-T c.11927C>T p.Ala3976Val Missense 78/107 - 1
1-186088412-G-A c.11938G>A p.Val3980Met Missense 78/107 - 1
1-186088422-A-G c.11948A>G p.His3983Arg Missense 78/107 - 1
1-186089072-G-A c.12094+58G>A - IntronicSNV - 79/106 3
1-186089268-A-G c.12220A>G p.Asn4074Asp Missense 80/107 - 1
1-186090370-A-G c.12229+1093A>G - IntronicSNV - 80/106 5
1-186092076-A-C c.12230-7A>C - IntronicSNV - 80/106 1
1-186092103-C-T c.12250C>T p.His4084Tyr Missense 81/107 - 2
1-186093558-T-G c.12500-1178T>G - IntronicSNV - 81/106 1
1-186095501-A-T c.12690+575A>T - IntronicSNV - 82/106 2
1-186095786-A-G c.12690+860A>G - IntronicSNV - 82/106 1
1-186097291-G-A c.12772G>A p.Val4258Ile Missense 83/107 - 1
1-186099134-T-C c.12941T>C p.Val4314Ala Missense 84/107 - 1
1-186099761-G-A c.13162G>A p.Val4388Met Missense 85/107 - 1
1-186099789-G-A c.13190G>A p.Arg4397Gln Missense 85/107 - 1
1-186101539-A-G c.13310A>G p.Gln4437Arg Missense 86/107 - 2
1-186101964-C-T c.13312+423C>T - IntronicSNV - 86/106 1
1-186102546-T-G c.13312+1005T>G - IntronicSNV - 86/106 1
1-186103421-G-T c.13312+1880G>T - IntronicSNV - 86/106 1
1-186105795-C-T c.13313-5C>T - IntronicSNV - 86/106 1
1-186105796-G-A c.13313-4G>A - IntronicSNV - 86/106 1
1-186105796-G-T c.13313-4G>T - IntronicSNV - 86/106 1
1-186105949-G-A c.13462G>A p.Val4488Met Missense 87/107 - 1
1-186106797-C-T c.13750C>T p.Pro4584Ser Missense 88/107 - 1
1-186107048-G-A c.13868G>A p.Arg4623Gln Missense 89/107 - 1
1-186107191-T-C c.13924+87T>C - IntronicSNV - 89/106 1
1-186109296-G-T c.13924+2192G>T - IntronicSNV - 89/106 1
1-186109825-T-A c.13924+2721T>A - IntronicSNV - 89/106 1
1-186110557-C-T c.13925-2748C>T - IntronicSNV - 89/106 1
1-186111077-G-C c.13925-2228G>C - IntronicSNV - 89/106 1
1-186112505-A-G c.13925-800A>G - IntronicSNV - 89/106 1
1-186113408-G-A c.14028G>A p.Ala4676Ala Synonymous 90/107 - 1
1-186113680-C-T c.14111C>T p.Ala4704Val Missense 91/107 - 1
1-186113691-A-C c.14122A>C p.Ser4708Arg Missense 91/107 - 1
1-186113727-G-A c.14158G>A p.Ala4720Thr Missense 91/107 - 1
1-186113852-G-C c.14266+17G>C - IntronicSNV - 91/106 2
1-186116797-G-T c.14608+1742G>T - IntronicSNV - 93/106 1
1-186119056-T-C c.14609-1276T>C - IntronicSNV - 93/106 1
1-186120139-T-A c.14609-193T>A - IntronicSNV - 93/106 1
1-186120139-T-G c.14609-193T>G - IntronicSNV - 93/106 1
1-186120356-G-C c.14633G>C p.Ser4878Thr Missense 94/107 - 1
1-186121912-G-A c.14927G>A p.Arg4976Gln Missense 96/107 - 1
1-186121995-A-T c.15010A>T p.Thr5004Ser Missense 96/107 - 1
1-186121996-C-T c.15011C>T p.Thr5004Ile Missense 96/107 - 2
1-186126099-A-G c.15256+2980A>G - IntronicSNV - 97/106 2
1-186126793-G-A c.15256+3674G>A - IntronicSNV - 97/106 1
1-186126793-G-T c.15256+3674G>T - IntronicSNV - 97/106 1
1-186127392-T-C c.15256+4273T>C - IntronicSNV - 97/106 1
1-186127510-G-T c.15256+4391G>T - IntronicSNV - 97/106 1
1-186132451-G-C c.15257-1792G>C - IntronicSNV - 97/106 1
1-186133290-C-A c.15257-953C>A - IntronicSNV - 97/106 1
1-186135081-C-G c.15320-235C>G - IntronicSNV - 98/106 1
1-186135236-G-A c.15320-80G>A - IntronicSNV - 98/106 1
1-186136000-C-T c.15500C>T p.Thr5167Met Missense 100/107 - 1
1-186136015-G-A c.15515G>A p.Arg5172His Missense 100/107 - 1
1-186136289-T-C c.15574+215T>C - IntronicSNV - 100/106 1
1-186136572-T-C c.15574+498T>C - IntronicSNV - 100/106 1
1-186140508-G-A c.15614G>A p.Arg5205His Missense 101/107 - 1
1-186140907-A-G c.15689-231A>G - IntronicSNV - 101/106 1
1-186141181-C-A c.15732C>A p.His5244Gln Missense 102/107 - 5
1-186141181-C-G c.15732C>G p.His5244Gln Missense 102/107 - 5
1-186141301-G-A c.15814+38G>A - IntronicSNV - 102/106 1
1-186141836-G-T c.15814+573G>T - IntronicSNV - 102/106 1
1-186142073-A-G c.15814+810A>G - IntronicSNV - 102/106 1
1-186143052-T-C c.15815-594T>C - IntronicSNV - 102/106 1
1-186143082-T-C c.15815-564T>C - IntronicSNV - 102/106 1
1-186144104-A-C c.15943+330A>C - IntronicSNV - 103/106 1
1-186146175-A-G c.15944-1373A>G - IntronicSNV - 103/106 1
1-186146175-A-T c.15944-1373A>T - IntronicSNV - 103/106 1
1-186147638-A-G c.16034A>G p.Gln5345Arg Missense 104/107 - 11
1-186147652-G-T c.16048G>T p.Asp5350Tyr Missense 104/107 - 1
1-186149017-G-A c.16294+1119G>A - IntronicSNV - 104/106 1
1-186149032-G-A c.16294+1134G>A - IntronicSNV - 104/106 12
1-186149235-C-A c.16294+1337C>A - IntronicSNV - 104/106 1
1-186149235-C-T c.16294+1337C>T - IntronicSNV - 104/106 1
1-186151336-A-G c.16331A>G p.His5444Arg Missense 105/107 - 1
1-186151390-A-G c.16385A>G p.Gln5462Arg Missense 105/107 - 4
1-186151493-C-G c.16414+74C>G - IntronicSNV - 105/106 1
1-186151493-C-T c.16414+74C>T - IntronicSNV - 105/106 1
1-186156514-C-T c.16415-501C>T - IntronicSNV - 105/106 3
1-186157125-C-T c.16525C>T p.Arg5509Trp Missense 106/107 - 1