PMID: 30275485

Abstracts from the 50th European Society of Human Genetics Conference: Posters.

European journal of human genetics : EJHG
.
2019-07

460 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
12-56669795-T-C CS c.773A>G p.Tyr258Cys Missense 7/11 -
3-58134029-T-C FLNB c.5825T>C p.Ile1942Thr Missense 35/46 -
1-155874566-C-A RIT1 c.193G>T p.Asp65Tyr Missense 4/6 -
17-48272688-GC-G COL1A1 c.1204delG p.Ala402Leufs*139 Frameshift 19/51 -
17-48266269-G-A COL1A1 c.3040C>T p.Arg1014Cys Missense 41/51 -
1-155209454-G-A GBA c.407C>T p.Ser136Leu Missense 4/11 -
3-178952097-G-A PIK3CA c.3152G>A p.Trp1051* Nonsense 21/21 -
12-76741496-A-AA BBS10 c.271_271dupT p.Cys91Leufs*5 Frameshift 2/2 -
1-155210875-A-C GBA c.27+2T>G - IntronicSNV - 1/10
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
3-121152743-G-T POLQ c.7544-863C>A - IntronicSNV - 28/29
11-103029637-A-C DYNC2H1 c.4261-2A>C - IntronicSNV - 27/89
15-32350775-C-G CHRNA7 c.195+27535C>G - IntronicSNV - 2/9
X-70342942-C-G MED12 c.1486-3C>G - IntronicSNV - 10/44
10-79356393-G-A KCNMA1 c.378+40630C>T - IntronicSNV - 1/26
6-88853738-G-A CNR1 c.1256C>T p.Ala419Val Missense 3/3 -
11-71152447-C-T DHCR7 c.452G>A p.Trp151* Nonsense 6/9 -
3-148917565-C-T CP c.1435G>A p.Gly479Arg Missense 8/19 -
3-178947852-C-A PIK3CA c.2727C>A p.Phe909Leu Missense 19/21 -
3-178947852-C-G PIK3CA c.2727C>G p.Phe909Leu Missense 19/21 -
4-96051067-C-T BMPR1B c.640C>T p.Arg214Cys Missense 9/13 -
19-15366252-G-A BRD4 c.1903C>T p.His635Tyr Missense 10/20 -
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
15-78871288-T-C CHRNA5 c.107-1865T>C - IntronicSNV - 1/5
1-155205065-ACC-A GBA c.1425_1426delGG p.Val476Cysfs*29 Frameshift 10/11 -
16-9858211-T-G GRIN2A c.3190A>C p.Thr1064Pro Missense 14/14 -
3-123070517-C-T ADCY5 c.1284+762G>A - IntronicSNV - 2/20
12-102130850-C-A SYCP3 c.201-1G>T - IntronicSNV - 3/8
12-56668612-AC-A CS c.969delG p.Ser324Glnfs*27 Frameshift 9/11 -
3-148917613-C-T CP c.1387G>A p.Val463Ile Missense 8/19 -
12-56667462-A-G CS c.1139T>C p.Leu380Pro Missense 10/11 -
14-65398902-AT-A CHURC1 c.377delT p.Ile126Thrfs*11 Frameshift 4/4 -
12-56677616-T-A CS c.227A>T p.Lys76Met Missense 4/11 -
9-34647947-C-T GALT c.496C>T p.Pro166Ser Missense 5/11 -
12-103238155-C-G PAH c.1024G>C p.Ala342Pro Missense 10/13 -
5-70238356-AGCTA-A SMN1 c.445_448delGCTA p.Ala149Ilefs*3 Frameshift 4/9 -
17-29559100-C-A NF1 c.3207C>A p.Asp1069Glu Missense 25/57 -
3-12641760-G-A RAF1 c.881C>T p.Ser294Phe Missense 9/17 -
3-3195351-G-A CRBN c.952-179C>T - IntronicSNV - 8/10
7-117120191-AC-A CFTR c.43delC p.Leu15Phefs*10 Frameshift 1/27 -
10-123352317-A-G FGFR2 c.109+906T>C - IntronicSNV - 2/17
3-148895670-T-C CP c.2975A>G p.Asp992Gly Missense 17/19 -
15-78907656-T-C CHRNA3 c.377+1710A>G - IntronicSNV - 4/5
8-11612630-A-G GATA4 c.985A>G p.Lys329Glu Missense 5/7 -
14-91770319-C-T CCDC88C c.3361G>A p.Glu1121Lys Missense 20/30 -
3-148924094-A-C CP c.1069T>G p.Cys357Gly Missense 6/19 -
X-147014029-GC-G FMR1 c.716delC p.Ala239Valfs*17 Frameshift 8/17 -
17-48264240-G-T COL1A1 c.3575C>A p.Pro1192His Missense 48/51 -
X-147010306-C-T FMR1 c.400C>T p.Pro134Ser Missense 5/17 -
12-103234271-G-A PAH c.1222C>T p.Arg408Trp Missense 12/13 -
16-53830465-A-G FTO c.46-13587A>G - IntronicSNV - 1/8
19-41521638-G-A CYP2B6 c.1295-913G>A - IntronicSNV - 8/8
17-29587520-C-G NF1 c.4501C>G p.Leu1501Val Missense 33/57 -
2-39234323-T-A SOS1 c.2522A>T p.Glu841Val Missense 16/23 -
5-70238695-A-G SMN1 c.625A>G p.Lys209Glu Missense 5/9 -
X-70344156-C-T MED12 c.1892C>T p.Pro631Leu Missense 13/45 -
17-72758158-T-C SLC9A3R1 c.449T>C p.Leu150Pro Missense 2/6 -
2-51254663-A-T NRXN1 c.749T>A p.Phe250Tyr Missense 2/24 -
8-6266857-C-T MCPH1 c.80C>T p.Thr27Ile Missense 2/14 -
5-70238201-A-G SMN1 c.290A>G p.Lys97Arg Missense 4/9 -
6-43738769-G-A VEGFA c.326G>A p.Trp109* Nonsense 1/8 -
9-136132911-C-CC ABO c.259dupG p.Val87Glyfs*269 Frameshift - -
12-103249021-G-T PAH c.599C>A p.Thr200Asn Missense 6/13 -
17-29553519-G-T NF1 c.2068G>T p.Ala690Ser Missense 18/57 -
12-103246700-CAC-ATC PAH c.733_735delGTGinsATC p.Val245Ile Missense 7/13 -
9-34648855-C-T GALT c.784C>T p.Arg262Trp Missense 8/11 -
17-29663417-T-C NF1 c.6010T>C p.Ser2004Pro Missense 40/57 -
6-88854690-A-G CNR1 c.304T>C p.Phe102Leu Missense 3/3 -
17-29665757-C-A NF1 c.6792C>A p.Tyr2264* Nonsense 45/57 -
13-20763208-G-GCGTT GJB2 c.512_513insAACG p.Trp172Thrfs*39 Frameshift 2/2 -
17-29665757-C-G NF1 c.6792C>G p.Tyr2264* Nonsense 45/57 -
3-93692516-A-G PROS1 c.76+2T>C - IntronicSNV - 1/14
6-160113872-A-G SOD2 c.47T>C p.Val16Ala Missense 2/5 -
12-48379961-A-C COL2A1 c.1527+158T>G - IntronicSNV - 23/53
3-178917547-G-A PIK3CA c.422G>A p.Arg141Lys Missense 3/21 -
17-29550451-T-G NF1 c.1722-11T>G - IntronicSNV - 15/56
17-29496980-A-C NF1 c.551A>C p.Asn184Thr Missense 5/57 -
X-147009838-A-T FMR1 c.199-2A>T - IntronicSNV - 3/16
12-56679756-T-TT CS c.146_146dup p.Thr50Aspfs*32 Frameshift 3/11 -
10-96541616-G-C CYP2C19 c.681G>C p.Pro227Pro Synonymous 5/9 -
3-12645699-G-A RAF1 c.770C>T p.Ser257Leu Missense 7/17 -
14-45667921-C-T FANCM c.5791C>T p.Arg1931* Nonsense 22/23 -
11-71146521-C-T DHCR7 c.1328G>A p.Arg443His Missense 9/9 -
19-1106615-T-A GPX4 c.*44T>A - 3-UTRSNV 7/7 -
14-45667921-C-A FANCM c.5791C>A p.Arg1931Arg Synonymous 22/23 -
2-191964633-T-G STAT4 c.274-23582A>C - IntronicSNV - 3/23
17-29664428-TC-T NF1 c.6407delC p.Ser2136Tyrfs*43 Frameshift 42/57 -
12-56669784-G-A CS c.784C>T p.His262Tyr Missense 7/11 -
9-118949778-GAGCA-G PAPPA c.761_764delAGCA p.Glu254Alafs*39 Frameshift 2/22 -
17-41244936-G-T BRCA1 c.2612C>A p.Pro871Gln Missense 10/23 -
12-104682528-C-G TXNRD1 c.11-181C>G - IntronicSNV - 1/14
19-41512841-G-T CYP2B6 c.516G>T p.Gln172His Missense 4/9 -
19-41512841-G-A CYP2B6 c.516G>A p.Gln172Gln Synonymous 4/9 -
7-117243652-CC-C CFTR c.2724delC p.Ser909Alafs*14 Frameshift 17/27 -
17-48267905-G-A COL1A1 c.2396C>T p.Pro799Leu Missense 34/51 -
3-148927999-C-A CP c.562G>T p.Asp188Tyr Missense 3/19 -
X-70344979-C-T MED12 c.2209C>T p.His737Tyr Missense 15/45 -
1-155210429-CC-C GBA c.109delG p.Ala37Hisfs*54 Frameshift 2/11 -
19-1106615-T-C GPX4 c.*44T>C - 3-UTRSNV 7/7 -
8-6266857-C-G MCPH1 c.80C>G p.Thr27Arg Missense 2/14 -
12-56693947-G-C CS c.39C>G p.Thr13Thr Synonymous 1/11 -
12-56693947-G-T CS c.39C>A p.Thr13Thr Synonymous 1/11 -
12-103248938-C-T PAH c.682G>A p.Glu228Lys Missense 6/13 -
19-41510282-A-G CYP2B6 c.415A>G p.Lys139Glu Missense 3/9 -
6-88854702-CAC-C CNR1 c.294_295delTG p.Cys98Trpfs*78 Frameshift 3/3 -
1-66081713-T-C LEPR c.2018T>C p.Leu673Ser Missense 15/20 -
6-43745323-C-G VEGFA c.776C>G p.Pro259Arg Missense 3/8 -
12-56669876-T-A CS c.692A>T p.Asp231Val Missense 7/11 -
15-32350775-C-T CHRNA7 c.195+27535C>T - IntronicSNV - 2/9
1-155207929-C-T GBA c.757G>A p.Val253Met Missense 6/11 -
12-56679764-G-C CS c.137C>G p.Ala46Gly Missense 3/11 -
Y-2655250-C-T SRY c.395G>A p.Arg132His Missense 1/1 -
17-29652857-CAATGGTGA-C NF1 c.4792_4799delAATGGTGA p.Asn1598Phefs*19 Frameshift 36/57 -
3-148930438-C-G CP c.194G>C p.Arg65Thr Missense 2/19 -
2-50765589-T-C NRXN1 c.2065A>G p.Ile689Val Missense 11/24 -
12-103260384-T-A PAH c.499A>T p.Asn167Tyr Missense 5/13 -
3-142403005-G-A PLS1 c.737G>A p.Arg246Lys Missense 7/16 -
13-52534448-A-T ATP7B c.1957T>A p.Ser653Thr Missense 7/21 -
2-50765412-G-T NRXN1 c.2242C>A p.Leu748Ile Missense 11/24 -
5-70237217-CA-C SMN1 c.155delA p.His52Leufs*3 Frameshift 3/9 -
17-7579397-A-C TP53 c.290T>G p.Val97Gly Missense 4/11 -
17-29661945-C-T NF1 c.5839C>T p.Arg1947* Nonsense 39/57 -
1-120286610-CAG-C PHGDH c.1549_1550delAG p.Ser517Profs*10 Frameshift 12/12 -
11-533610-CTC-C HRAS c.293_294delAG - SpliceAcceptorDeletion 4/6 -
10-79356397-G-A KCNMA1 c.378+40626C>T - IntronicSNV - 1/26
1-10479784-C-T PGD c.1430C>T p.Ser477Leu Missense 13/13 -
16-89348801-G-A ANKRD11 c.4149C>T p.Gly1383Gly Synonymous 9/13 -
8-32613989-A-T NRG1 c.773A>T p.Asn258Ile Missense 9/12 -
17-72764644-C-T SLC9A3R1 c.926C>T p.Thr309Ile Missense 6/6 -
9-34649073-G-A GALT c.899G>A p.Trp300* Nonsense 9/11 -
12-56676287-T-TT CS c.505_505dupA p.Ser169Lysfs*10 Frameshift 6/11 -
11-71146554-T-C DHCR7 c.1295A>G p.Tyr432Cys Missense 9/9 -
7-117199670-ATA-A CFTR c.1545_1546delTA p.Tyr515*fs*1 Frameshift 11/27 -
12-56669910-G-A CS c.658C>T p.Leu220Phe Missense 7/11 -
1-66074471-A-G LEPR c.1639A>G p.Ile547Val Missense 12/20 -
17-41244435-T-C BRCA1 c.3113A>G p.Glu1038Gly Missense 10/23 -
1-155205634-T-C GBA c.1226A>G p.Asn409Ser Missense 9/11 -
17-48272649-G-A COL1A1 c.1243C>T p.Arg415* Nonsense 19/51 -
X-147027071-C-T FMR1 c.1672C>T p.Arg558* Nonsense 16/17 -
12-56668626-C-G CS c.955G>C p.Val319Leu Missense 9/11 -
11-103075660-G-A DYNC2H1 c.8421G>A p.Trp2807* Nonsense 52/90 -
1-67094171-G-A SGIP1 c.74+2578G>A - IntronicSNV - 2/24
3-12626068-G-A RAF1 c.1892C>T p.Thr631Ile Missense 17/17 -
11-71146507-C-T DHCR7 c.1342G>A p.Glu448Lys Missense 9/9 -
7-94043239-C-T COL1A2 c.1645C>T p.Pro549Ser Missense 28/52 -
7-117250621-C-T CFTR c.3037C>T p.Pro1013Ser Missense 19/27 -
2-39241924-A-C SOS1 c.1922T>G p.Leu641Arg Missense 11/23 -
X-70339543-C-G MED12 c.212C>G p.Ser71Cys Missense 3/45 -
12-56676247-G-A CS c.545C>T p.Ala182Val Missense 6/11 -
7-94043239-C-A COL1A2 c.1645C>A p.Pro549Thr Missense 28/52 -
17-29552239-C-T NF1 c.1972C>T p.Leu658Phe Missense 17/57 -
6-31658634-A-G ABHD16A c.745-255T>C - IntronicSNV - 7/17
Y-2655083-C-A SRY c.562G>T p.Ala188Ser Missense 1/1 -
7-117149175-T-A CFTR c.252T>A p.Tyr84* Nonsense 3/27 -
1-66058513-A-G LEPR c.668A>G p.Gln223Arg Missense 6/20 -
12-56668878-GGCTG-CAGCTC CS c.822_826delinsGAGCTG p.His276*fs*1 Frameshift 8/11 -
21-44592483-T-G CRYAA c.*93T>G - 3-UTRSNV 3/3 -
3-178916794-C-T PIK3CA c.181C>T p.Leu61Phe Missense 2/21 -
1-155205043-A-G GBA c.1448T>C p.Leu483Pro Missense 10/11 -
3-178951964-G-C PIK3CA c.3019G>C p.Gly1007Arg Missense 21/21 -
11-533874-T-A HRAS c.182A>T p.Gln61Leu Missense 3/6 -
7-117199706-A-AA CFTR c.1580_1580dupA p.Glu528Argfs*40 Frameshift 11/27 -
5-70240526-CAC-C SMN1 c.669_670delAC p.Pro224Thrfs*31 Frameshift 6/9 -
12-56669826-C-T CS c.742G>A p.Asp248Asn Missense 7/11 -
1-155209432-GTAG-G GBA c.429_431delACT p.Leu144delLeu InFrameDeletion 4/11 -
16-53790181-C-A FTO c.45+52040C>A - IntronicSNV - 1/8
11-61597212-C-T FADS2 c.207+1143C>T - IntronicSNV - 1/11
1-155880543-C-T RIT1 c.10G>A p.Gly4Arg Missense 2/6 -
6-151914113-G-A CCDC170 c.1294-129G>A - IntronicSNV - 7/10
3-148899824-G-A CP c.2522C>T p.Thr841Ile Missense 14/19 -
19-41518370-C-T CYP2B6 c.1132C>T p.Arg378* Nonsense 7/9 -
4-89033527-T-C ABCG2 c.1194+928A>G - IntronicSNV - 9/15
4-38009497-C-T TBC1D1 c.418-6633C>T - IntronicSNV - 2/19
17-7576855-G-A TP53 c.991C>T p.Gln331* Nonsense 9/11 -
17-38563842-T-C TOP2A c.1585A>G p.Lys529Glu Missense 13/35 -
4-38009497-C-A TBC1D1 c.418-6633C>A - IntronicSNV - 2/19
1-155880253-C-T RIT1 c.151G>A p.Asp51Asn Missense 3/6 -
1-155204794-G-A GBA c.1603C>T p.Arg535Cys Missense 11/11 -
X-147019001-AAT-A FMR1 c.1007_1008delAT p.Asn336Ilefs*6 Frameshift 11/17 -
12-56669900-TTCTCTGTAGAGATTTCGGTAGATCTTTG-T CS c.641_668del28 p.Ala214Glufs*22 Frameshift 7/11 -
8-6272353-A-G MCPH1 c.182A>G p.Asp61Gly Missense 3/14 -
12-48393526-G-A COL2A1 c.292+176C>T - IntronicSNV - 2/53
8-32614021-C-T NRG1 c.805C>T p.Pro269Ser Missense 9/12 -
17-42138392-C-T LSM12 c.258+2777G>A - IntronicSNV - 3/5
11-60886913-C-T CD5 c.671C>T p.Pro224Leu Missense 5/11 -
12-56693951-C-G CS c.35G>C p.Gly12Ala Missense 1/11 -
12-56693951-C-A CS c.35G>T p.Gly12Val Missense 1/11 -
12-56693951-C-T CS c.35G>A p.Gly12Glu Missense 1/11 -
3-93624945-C-T PROS1 c.389G>A p.Gly130Glu Missense 5/15 -
20-982938-G-A RSPO4 c.1-131C>T - IntergenicSNV 1/5 -
6-33542538-A-G BAK1 c.350+537T>C - IntronicSNV - 4/5
19-15366993-C-T BRD4 c.1633G>A p.Glu545Lys Missense 9/20 -
19-12921196-T-A RNASEH2A c.615T>A p.Asp205Glu Missense 6/8 -
17-29497004-G-A NF1 c.575G>A p.Arg192Gln Missense 5/57 -
16-53790762-C-T FTO c.45+52621C>T - IntronicSNV - 1/8
1-155874217-C-T RIT1 c.314G>A p.Arg105His Missense 5/6 -
3-148925318-T-TT CP c.868_868dupA p.Asn290Lysfs*2 Frameshift 5/19 -
12-76739889-C-A BBS10 c.1876G>T p.Glu626* Nonsense 2/2 -
12-56693985-T-A CS c.1A>T p.Met1Leu Missense 1/11 -
21-46957794-T-G SLC19A1 c.80A>C p.His27Pro Missense 2/6 -
6-88854807-T-A CNR1 c.187A>T p.Thr63Ser Missense 3/3 -
17-29422330-G-A NF1 c.3G>A p.Met1Ile Missense 1/57 -
8-11612571-C-T GATA4 c.926C>T p.Ala309Val Missense 5/7 -
10-101542578-C-T ABCC2 c.1-24C>T - 5-UTRSNV 1/32 -
3-48609589-G-C COL7A1 c.6994C>G p.Arg2332Gly Missense 90/118 -
1-155207994-T-A GBA c.692A>T p.Asn231Ile Missense 6/11 -
12-103232981-A-G PAH c.1331T>C p.Leu444Pro Missense 13/13 -
1-209796525-C-G LAMB3 c.2359-1G>C - IntronicSNV - 16/22
1-43408966-G-A SLC2A1 c.45C>T p.Ala15Ala Synonymous 2/10 -
1-43408966-G-C SLC2A1 c.45C>G p.Ala15Ala Synonymous 2/10 -
13-20763605-G-C GJB2 c.116C>G p.Ala39Gly Missense 2/2 -
1-10477136-G-T PGD c.937G>T p.Asp313Tyr Missense 9/13 -
16-89354999-C-T ANKRD11 c.681G>A p.Val227Val Synonymous 7/13 -
17-48273998-C-T COL1A1 c.838G>A p.Ala280Thr Missense 12/51 -
17-29533379-G-A NF1 c.1382G>A p.Arg461Gln Missense 12/57 -
12-56669914-TT-T CS c.656delA p.Asn219Ilefs*26 Frameshift 7/11 -
X-15845496-C-T AP1S2 c.427-1G>A - IntronicSNV - 4/4
14-91739265-G-A CCDC88C c.5791C>T p.Pro1931Ser Missense 30/30 -
1-155870275-CCTCC-C RIT1 c.562_565delGAGG p.Glu188Glnfs*19 Frameshift 6/6 -
17-48270390-C-T COL1A1 c.1786G>A p.Gly596Arg Missense 26/51 -
3-148903055-TTT-T CP c.2257_2258delAA p.Lys753Glyfs*17 Frameshift 12/19 -
17-29550542-G-A NF1 c.1802G>A p.Arg601Gln Missense 16/57 -
3-148916279-C-T CP c.1588G>A p.Ala530Thr Missense 9/19 -
11-71146758-G-A DHCR7 c.1091C>T p.Thr364Met Missense 9/9 -
14-62187209-A-C HIF1A c.145A>C p.Asn49His Missense 2/15 -
13-52539134-G-T ATP7B c.1743C>A p.Asn581Lys Missense 5/21 -
8-68107769-C-T CSPP1 c.3607C>T p.Gln1203* Nonsense 29/29 -
18-40678235-T-A RIT2 c.103+17147A>T - IntronicSNV - 1/4
18-40678235-T-C RIT2 c.103+17147A>G - IntronicSNV - 1/4
2-112770770-A-G MERTK c.2079+3127A>G - IntronicSNV - 15/18
6-151918856-T-C CCDC170 c.1710+1144T>C - IntronicSNV - 9/10
19-45412358-C-G APOE c.805C>G p.Arg269Gly Missense 4/4 -
2-85774676-G-A GGCX c.*2381C>T - 3-UTRSNV 15/15 -
15-32347464-T-C CHRNA7 c.195+24224T>C - IntronicSNV - 2/9
17-29508488-GTT-G NF1 c.635_636delTT p.Val212Aspfs*3 Frameshift 6/57 -
3-46945000-G-A PTH1R c.1636G>A p.Glu546Lys Missense 16/16 -
12-56679708-C-A CS c.193G>T p.Val65Leu Missense 3/11 -
1-174769621-G-A RABGAP1L c.151G>A p.Val51Met Missense 1/9 -
12-48393444-C-T COL2A1 c.292+258G>A - IntronicSNV - 2/53
1-155209431-G-A GBA c.430C>T p.Leu144Phe Missense 4/11 -
11-89017961-G-A TYR c.1205G>A p.Arg402Gln Missense 4/5 -
1-209799226-G-T LAMB3 c.1743C>A p.Cys581* Nonsense 14/23 -
9-136303432-GG-G ADAMTS13 c.1651delG p.Asp551Thrfs*24 Frameshift 14/29 -
5-42801268-C-T CCDC152 c.*1385C>T - 3-UTRSNV 9/9 -
X-70349592-G-T MED12 c.3754G>T p.Glu1252* Nonsense 27/45 -
7-117199646-TCTT-T CFTR c.1521_1523delCTT p.Phe508delPhe InFrameDeletion 11/27 -
11-116650118-C-T ZPR1 c.1246-343G>A - IntronicSNV - 13/13
11-60893235-C-T CD5 c.1412C>T p.Ala471Val Missense 10/11 -
17-48264418-C-T COL1A1 c.3489G>A p.Gly1163Gly Synonymous 47/51 -
19-45412358-C-T APOE c.805C>T p.Arg269Cys Missense 4/4 -
1-43392754-G-A SLC2A1 c.1437C>T p.Pro479Pro Synonymous 10/10 -
3-189582102-C-T TP63 c.661C>T p.Gln221* Nonsense 5/14 -
5-112420974-G-A MCC c.1432C>T p.Gln478* Nonsense 9/19 -
Y-6939858-C-T TBL1Y c.881C>T p.Ala294Val Missense 12/19 -
17-48272113-G-A COL1A1 c.1430C>T p.Pro477Leu Missense 21/51 -
5-42801268-C-A CCDC152 c.*1385C>A - 3-UTRSNV 9/9 -
3-58067414-A-G FLNB c.698A>G p.Tyr233Cys Missense 4/46 -
1-155206200-C-T GBA c.1060G>A p.Asp354Asn Missense 8/11 -
3-148930270-G-A CP c.362C>T p.Ser121Leu Missense 2/19 -
5-37026373-A-C NIPBL c.5752A>C p.Thr1918Pro Missense 31/46 -
20-33578202-G-A MYH7B c.2103+89G>A - IntronicSNV - 22/44
X-147003487-GTT-ATG FMR1 c.88_90delGTTinsATG p.Val30Met Missense 2/17 -
2-60720246-C-T BCL11A c.386-24278G>A - IntronicSNV - 2/3
12-56668810-C-T CS c.894G>A p.Gly298Gly Synonymous 8/11 -
11-71155082-G-A DHCR7 c.278C>T p.Thr93Met Missense 4/9 -
19-41515263-A-G CYP2B6 c.785A>G p.Lys262Arg Missense 5/9 -
3-178916941-AGAA-A PIK3CA c.328_330delGAA p.Glu110delGlu InFrameDeletion 2/21 -
3-3192246-A-G CRBN c.*303T>C - 3-UTRSNV 11/11 -
17-29483127-A-T NF1 c.187A>T p.Lys63* Nonsense 2/57 -
X-70356371-C-CC MED12 c.5266_5266dupC p.Leu1756Profs*5 Frameshift 37/45 -
13-20763691-CC-C GJB2 c.35delG p.Gly12Valfs*2 Frameshift 2/2 -
17-19465191-C-T SLC47A1 c.1106+1385C>T - IntronicSNV - 12/16
3-12627233-G-A RAF1 c.1483C>T p.Arg495Cys Missense 14/17 -
16-53789999-C-T FTO c.45+51858C>T - IntronicSNV - 1/8
12-56693947-G-A CS c.39C>T p.Thr13Thr Synonymous 1/11 -
12-103234275-T-C PAH c.1218A>G p.Ile406Met Missense 12/13 -
17-29661858-A-C NF1 c.5752A>C p.Ile1918Leu Missense 39/57 -
7-117188821-T-C CFTR c.1336T>C p.Phe446Leu Missense 10/27 -
13-52548904-C-T ATP7B c.452G>A p.Gly151Asp Missense 2/21 -
3-148916204-C-A CP c.1663G>T p.Gly555Trp Missense 9/19 -
16-89351361-G-A ANKRD11 c.1589C>T p.Ala530Val Missense 9/13 -
Y-15028526-C-T DDX3Y c.1589C>T p.Thr530Ile Missense 14/17 -
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
12-56666941-C-T CS c.1328G>A p.Gly443Asp Missense 11/11 -
4-96761980-A-G PDHA2 c.679A>G p.Met227Val Missense 1/1 -
17-7579864-C-T TP53 c.49G>A p.Glu17Lys Missense 2/11 -
21-46957794-T-C SLC19A1 c.80A>G p.His27Arg Missense 2/6 -
3-93619716-A-G PROS1 c.659T>C p.Ile220Thr Missense 7/15 -
12-56669884-C-T CS c.684G>A p.Gly228Gly Synonymous 7/11 -
19-41518221-T-C CYP2B6 c.983T>C p.Ile328Thr Missense 7/9 -
7-87160618-A-T ABCB1 c.2677T>A p.Ser893Thr Missense 22/29 -
1-108315137-C-T VAV3 c.555+220G>A - IntronicSNV - 5/26
17-7579472-G-T TP53 c.215C>A p.Pro72His Missense 4/11 -
16-8906887-A-G PMM2 c.563A>G p.Asp188Gly Missense 7/8 -
17-7577508-T-A TP53 c.773A>T p.Glu258Val Missense 7/11 -
13-51530530-G-T RNASEH2B c.859G>T p.Ala287Ser Missense 11/11 -
X-147027083-C-T FMR1 c.1684C>T p.Arg562Cys Missense 16/17 -
5-70238621-A-C SMN1 c.551A>C p.Lys184Thr Missense 5/9 -
17-19463343-G-A SLC47A1 c.922-158G>A - IntronicSNV - 10/16
1-155208420-CCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGT-C GBA c.429_476del1013 - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 5/11 4/10
7-87160618-A-C ABCB1 c.2677T>G p.Ser893Ala Missense 22/29 -
20-30262159-C-T BCL2L1 c.565-8270G>A - IntronicSNV - 2/2
1-155207167-C-T GBA c.964G>A p.Asp322Asn Missense 7/11 -
17-41244435-T-G BRCA1 c.3113A>C p.Glu1038Ala Missense 10/23 -
9-118973932-A-G PAPPA c.1639A>G p.Asn547Asp Missense 4/22 -
1-155206044-T-C GBA c.1216A>G p.Ile406Val Missense 8/11 -
3-58121842-C-T FLNB c.4808C>T p.Pro1603Leu Missense 28/46 -
11-116629153-G-A BUD13 c.1361-30C>T - IntronicSNV - 6/9
17-19481161-A-G SLC47A1 c.*295A>G - 3-UTRSNV 17/17 -
7-117282620-G-A CFTR c.3846G>A p.Trp1282* Nonsense 23/27 -
17-29527615-T-G NF1 c.1062+2T>G - IntronicSNV - 9/56
22-19921378-C-T TXNRD2 c.104-2757G>A - IntronicSNV - 1/17
8-68007783-C-T CSPP1 c.766C>T p.Gln256* Nonsense 6/29 -
12-56666875-G-A CS c.1394C>T p.Ser465Leu Missense 11/11 -
18-580623-T-C CETN1 c.215T>C p.Met72Thr Missense 1/1 -
3-148924013-TT-T CP c.1151delA p.Asn384Thrfs*7 Frameshift 6/19 -
12-103248934-T-C PAH c.686A>G p.Asp229Gly Missense 6/13 -
17-41244936-G-A BRCA1 c.2612C>T p.Pro871Leu Missense 10/23 -
17-41244936-G-C BRCA1 c.2612C>G p.Pro871Arg Missense 10/23 -
17-48272156-C-T COL1A1 c.1387G>A p.Ala463Thr Missense 21/51 -
17-7578179-C-T TP53 c.670G>A p.Glu224Lys Missense 6/11 -
3-93598096-C-T PROS1 c.1555G>A p.Gly519Ser Missense 13/15 -
1-155208404-G-C GBA c.492C>G p.Ser164Arg Missense 5/11 -
11-116651463-T-G ZPR1 c.1180-910A>C - IntronicSNV - 12/13
11-116651463-T-A ZPR1 c.1180-910A>T - IntronicSNV - 12/13
5-70241954-G-A SMN1 c.785G>A p.Ser262Asn Missense 7/9 -
12-56667499-G-A CS c.1102C>T p.Leu368Leu Synonymous 10/11 -
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
17-19481335-A-T SLC47A1 c.*469A>T - 3-UTRSNV 17/17 -
17-19481335-A-C SLC47A1 c.*469A>C - 3-UTRSNV 17/17 -
1-155208421-G-A GBA c.475C>T p.Arg159Trp Missense 5/11 -
16-9858211-T-C GRIN2A c.3190A>G p.Thr1064Ala Missense 14/14 -
14-91739970-G-A CCDC88C c.5086C>T p.Leu1696Leu Synonymous 30/30 -
1-43395635-C-T SLC2A1 c.588G>A p.Pro196Pro Synonymous 5/10 -
11-116658122-G-T ZPR1 c.333+76C>A - IntronicSNV - 2/13
1-43408984-C-A SLC2A1 c.27G>T p.Thr9Thr Synonymous 2/10 -
15-92484837-G-T SLCO3A1 c.646+25149G>T - IntronicSNV - 2/9
1-43408984-C-T SLC2A1 c.27G>A p.Thr9Thr Synonymous 2/10 -
7-65553796-G-A ASL c.721G>A p.Glu241Lys Missense 11/17 -
13-51509111-C-T RNASEH2B c.412C>T p.Leu138Phe Missense 5/11 -
16-53790181-C-G FTO c.45+52040C>G - IntronicSNV - 1/8
13-20763650-C-T GJB2 c.71G>A p.Trp24* Nonsense 2/2 -
12-103246647-A-G PAH c.788T>C p.Phe263Ser Missense 7/13 -
12-65640070-C-T LEMD3 c.2698C>T p.Arg900Trp Missense 13/13 -
17-41244000-T-A BRCA1 c.3548A>T p.Lys1183Ile Missense 10/23 -
17-41244000-T-C BRCA1 c.3548A>G p.Lys1183Arg Missense 10/23 -
6-88854566-GTGGAGGATGACGCACAGCAC-G CNR1 c.409_428del20 p.Val137Leufs*33 Frameshift 3/3 -
3-148917502-T-C CP c.1498A>G p.Arg500Gly Missense 8/19 -
5-36961669-T-C NIPBL c.442T>C p.Ser148Pro Missense 5/46 -
2-39213131-G-A SOS1 c.3836C>T p.Thr1279Ile Missense 23/23 -
7-117199522-C-G CFTR c.1397C>G p.Ser466* Nonsense 11/27 -
7-117199522-C-A CFTR c.1397C>A p.Ser466* Nonsense 11/27 -
2-39249984-T-C SOS1 c.1585A>G p.Lys529Glu Missense 10/23 -
13-52535985-A-C ATP7B c.1934T>G p.Met645Arg Missense 6/21 -
3-121152743-G-C POLQ c.7544-863C>G - IntronicSNV - 28/29
1-155205032-C-T GBA c.1459G>A p.Ala487Thr Missense 10/11 -
1-155208378-G-T GBA c.518C>A p.Thr173Asn Missense 5/11 -
7-99262835-C-T CYP3A5 c.624G>A p.Lys208Lys Synonymous 7/13 -
1-66038080-T-C LEPR c.442T>C p.Phe148Leu Missense 5/20 -
5-70237258-C-T SMN1 c.196C>T p.Pro66Ser Missense 3/9 -
16-89348996-A-T ANKRD11 c.3954T>A p.Thr1318Thr Synonymous 9/13 -
1-155874231-G-C RIT1 c.300C>G p.Tyr100* Nonsense 5/6 -
7-99366316-G-A CYP3A4 c.522-191C>T - IntronicSNV - 6/12
1-41160204-A-G NFYC c.-9+2665A>G - intron_variant - 1/9
3-12650778-AA-A RAF1 c.378delT p.Gln127Lysfs*2 Frameshift 4/17 -
13-20763687-C-T GJB2 c.34G>A p.Gly12Ser Missense 2/2 -
1-155205565-C-A GBA c.1295G>T p.Trp432Leu Missense 9/11 -
15-66729162-C-T MAP2K1 c.370C>T p.Pro124Ser Missense 3/11 -
12-56667532-A-C CS c.1069T>G p.Tyr357Asp Missense 10/11 -
17-29483055-A-C NF1 c.115A>C p.Asn39His Missense 2/57 -
17-48274551-G-A COL1A1 c.740C>T p.Pro247Leu Missense 10/51 -
6-160868701-G-A SLC22A3 c.1511-50G>A - IntronicSNV - 9/10
3-148903143-T-C CP c.2168A>G p.Glu723Gly Missense 12/19 -
9-34648780-G-A GALT c.709G>A p.Glu237Lys Missense 8/11 -
17-38563838-G-A TOP2A c.1589C>T p.Thr530Met Missense 13/35 -
7-87179601-A-G ABCB1 c.1236T>C p.Gly412Gly Synonymous 13/29 -
12-56693952-C-A CS c.34G>T p.Gly12* Nonsense 1/11 -
3-148939435-T-G CP c.145A>C p.Thr49Pro Missense 1/19 -
12-6440009-T-C TNFRSF1A c.625+10A>G - IntronicSNV - 6/9
11-71146795-G-A DHCR7 c.1054C>T p.Arg352Trp Missense 9/9 -
3-12650820-A-T RAF1 c.335T>A p.Leu112* Nonsense 4/17 -
12-56693952-C-T CS c.34G>A p.Gly12Arg Missense 1/11 -
5-70234669-G-T SMN1 c.85G>T p.Asp29Tyr Missense 2/9 -
6-88854020-C-T CNR1 c.974G>A p.Gly325Glu Missense 3/3 -
5-112439991-G-T MCC c.1089C>A p.Val363Val Synonymous 7/19 -
12-103288559-A-G PAH c.306T>C p.Ile102Ile Synonymous 3/13 -
3-148920026-T-TT CP c.1211_1211dup - SpliceAcceptorInsertion 7/19 -
17-19481762-C-A SLC47A1 c.*896C>A - 3-UTRSNV 17/17 -
1-43396414-G-A SLC2A1 c.399C>T p.Cys133Cys Synonymous 4/10 -
7-117199533-G-A CFTR c.1408G>A p.Val470Met Missense 11/27 -
17-7578253-C-T TP53 c.596G>A p.Gly199Glu Missense 6/11 -
12-6450945-T-C TNFRSF1A c.36A>G p.Pro12Pro Synonymous 1/10 -
12-56669790-T-TT CS c.778_778dup p.Thr260Asnfs*5 Frameshift 7/11 -
9-34648856-G-A GALT c.785G>A p.Arg262Gln Missense 8/11 -
6-32008858-G-A CYP21A2 c.1435G>A p.Val479Met Missense 10/10 -
7-87179809-C-A ABCB1 c.1199G>T p.Ser400Ile Missense 12/29 -
12-103240681-G-A PAH c.961C>T p.Leu321Phe Missense 9/13 -
3-3194308-C-T CRBN c.1017-37G>A - IntronicSNV - 9/10
17-44851056-G-C WNT3 c.300C>G p.Ile100Met Missense 2/5 -
12-56669810-CT-C CS c.758delA p.Glu253Glyfs*18 Frameshift 7/11 -
3-119518417-C-T NR1I2 c.1-7681C>T - IntronicSNV - 1/8
3-178947850-T-C PIK3CA c.2725T>C p.Phe909Leu Missense 19/21 -
16-89347125-A-G ANKRD11 c.5825T>C p.Val1942Ala Missense 9/13 -
3-178928273-C-T PIK3CA c.1459C>T p.Pro487Ser Missense 9/21 -
11-71155154-G-A DHCR7 c.206C>T p.Thr69Ile Missense 4/9 -
5-42800808-C-T CCDC152 c.*925C>T - 3-UTRSNV 9/9 -
12-56693952-C-G CS c.34G>C p.Gly12Arg Missense 1/11 -
7-87179809-C-T ABCB1 c.1199G>A p.Ser400Asn Missense 12/29 -
4-995593-CG-C IDUA c.716delG p.Arg239Profs*78 Frameshift 6/14 -
5-70238197-GG-G SMN1 c.286delG p.Asp96Thrfs*53 Frameshift 4/9 -
17-7574017-C-T TP53 c.1010G>A p.Arg337His Missense 10/11 -
14-45658326-C-T FANCM c.5101C>T p.Gln1701* Nonsense 20/23 -
6-396321-C-T IRF4 c.492+386C>T - IntronicSNV - 4/8
3-178916698-G-T PIK3CA c.85G>T p.Gly29* Nonsense 2/21 -
12-103271292-C-T PAH c.389G>A p.Arg130Lys Missense 4/13 -
7-94043239-C-G COL1A2 c.1645C>G p.Pro549Ala Missense 28/52 -
19-15375442-T-C BRD4 c.985A>G p.Lys329Glu Missense 6/20 -
1-155209418-A-G GBA c.443T>C p.Phe148Ser Missense 4/11 -
12-103246719-C-G PAH c.716G>C p.Gly239Ala Missense 7/13 -
3-178927427-C-T PIK3CA c.1190C>T p.Pro397Leu Missense 7/21 -
1-155206065-C-G GBA c.1195G>C p.Gly399Arg Missense 8/11 -
3-148939542-C-T CP c.38G>A p.Cys13Tyr Missense 1/19 -
3-148901254-CTA-C CP c.2423_2424delTA - SpliceDonorDeletion 13/19 -
X-70342990-G-T MED12 c.1531G>T p.Ala511Ser Missense 11/45 -
3-148894076-C-T CP c.3142G>A p.Ala1048Thr Missense 18/19 -
1-155209530-C-T GBA c.331G>A p.Glu111Lys Missense 4/11 -
17-44845949-G-A WNT3 c.805C>T p.Pro269Ser Missense 4/5 -
6-151918856-T-G CCDC170 c.1710+1144T>G - IntronicSNV - 9/10
1-155209817-A-C GBA c.167T>G p.Val56Gly Missense 3/11 -
5-70220992-TT-T SMN1 c.62delT p.Phe21Serfs*19 Frameshift 1/9 -
14-91739955-G-A CCDC88C c.5101C>T p.Arg1701* Nonsense 30/30 -
7-99250394-A-AA CYP3A5 c.1035_1035dup p.Thr346Tyrfs*3 Frameshift 11/13 -
7-5334469-G-A SLC29A4 c.545-22G>A - IntronicSNV - 5/10
9-136324271-C-CC ADAMTS13 c.4253dupC p.Gln1419Serfs*26 Frameshift 29/29 -
12-103310899-C-T PAH c.10G>A p.Ala4Thr Missense 1/13 -
12-103288514-T-G PAH c.351A>C p.Thr117Thr Synonymous 3/13 -
7-117199648-T-G CFTR c.1523T>G p.Phe508Cys Missense 11/27 -
12-103240705-C-A PAH c.937G>T p.Ala313Ser Missense 9/13 -
10-101563815-G-A ABCC2 c.1249G>A p.Val417Ile Missense 10/32 -
17-29653258-A-AA NF1 c.5193dupA p.Val1732Serfs*4 Frameshift 36/57 -
7-5334469-G-T SLC29A4 c.545-22G>T - IntronicSNV - 5/10
12-88890671-A-G KITLG c.*325T>C - 3_prime_UTR_variant 9/9 -
1-43395635-C-G SLC2A1 c.588G>C p.Pro196Pro Synonymous 5/10 -
2-39281814-G-A SOS1 c.661C>T p.Leu221Leu Synonymous 5/23 -
16-89351178-G-T ANKRD11 c.1772C>A p.Pro591Gln Missense 9/13 -
19-41497274-C-T CYP2B6 c.64C>T p.Arg22Cys Missense 1/9 -
12-56676356-C-T CS c.436G>A p.Ala146Thr Missense 6/11 -
3-58129232-CACA-C FLNB c.5317_5319delACA p.Thr1773delThr InFrameDeletion 32/46 -
3-148905952-A-C CP c.1751T>G p.Val584Gly Missense 10/19 -
19-12921186-T-C RNASEH2A c.605T>C p.Leu202Ser Missense 6/8 -
3-58110220-C-T FLNB c.3886C>T p.Pro1296Ser Missense 22/46 -
19-15349976-G-A BRD4 c.3676C>T p.Gln1226* Nonsense 18/20 -
1-155209693-TAGCCTGGATGGGCCCCATACT-T GBA c.272_292del21 p.Ser91_ala97del InFrameDeletion 3/11 -
17-29585503-T-TC NF1 c.4252_4253insC p.Leu1418Serfs*28 Frameshift 31/57 -
3-148905924-CCA-C CP c.1778_1779delTG p.Leu593Argfs*3 Frameshift 10/19 -
3-142413329-G-T PLS1 c.1196G>T p.Arg399Ile Missense 11/16 -
X-147026472-G-A FMR1 c.1555G>A p.Glu519Lys Missense 15/17 -
17-29541574-A-G NF1 c.1498A>G p.Ile500Val Missense 13/57 -
12-56669811-C-T CS c.757G>A p.Glu253Lys Missense 7/11 -
17-29654629-GTAG-G NF1 c.5318_5320delTAG p.Val1773delVal InFrameDeletion 37/57 -