PMID: 31270413

Abstracts from the 51st European Society of Human Genetics Conference: Posters.

European journal of human genetics : EJHG
.
2019-07

454 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
18-44109193-C-T LOXHD1 c.4477G>A p.Glu1493Lys Missense 29/40 -
6-29798749-C-G HLA-G c.*233C>G - 3_prime_UTR_variant 8/8 -
6-29798749-C-T HLA-G c.*233C>T - 3_prime_UTR_variant 8/8 -
15-43896948-G-A STRC c.4027C>T p.Gln1343* Nonsense 20/29 -
7-87138645-A-G ABCB1 c.3435T>C p.Ile1145Ile Synonymous 27/29 -
15-78930510-A-G CHRNB4 c.56-2581T>C - IntronicSNV - 1/5
15-78857896-T-A CHRNA5 c.1-166T>A - 5-UTRSNV 1/6 -
X-48371008-G-C PORCN c.587G>C p.Ser196Thr Missense 6/13 -
6-32065800-AAG-A TNXB c.175_176delCT p.Tyr60Argfs*18 Frameshift 2/44 -
6-32064562-GCG-TGG TNXB c.1066_1068delCGCinsTGG p.Arg356Trp Missense 3/44 -
9-127255362-G-A NR5A1 c.937C>T p.Arg313Cys Missense 5/7 -
3-130116696-A-C COL6A5 c.3838A>C p.Thr1280Pro Missense 9/40 -
3-189584510-G-A TP63 c.806G>A p.Gly269Glu Missense 6/14 -
17-48272649-G-A COL1A1 c.1243C>T p.Arg415* Nonsense 19/51 -
3-130116696-A-T COL6A5 c.3838A>T p.Thr1280Ser Missense 9/40 -
X-48369842-CTATCCGT-C PORCN c.296_302delTATCCGT p.Leu99Profs*15 Frameshift 3/13 -
X-48372734-G-T PORCN c.793G>T p.Glu265* Nonsense 7/13 -
X-32380967-G-GG DMD c.5266_5266dupC p.Gln1756Profs*17 Frameshift 37/79 -
7-99696370-C-G MCM7 c.55-32G>C - IntronicSNV - 4/13
7-99696370-C-A MCM7 c.55-32G>T - IntronicSNV - 4/13
12-25378573-A-G KRAS c.425T>C p.Ile142Thr Missense 4/6 -
7-99696370-C-T MCM7 c.55-32G>A - IntronicSNV - 4/13
1-22970514-G-A C1QC c.1-3G>A - 5-UTRSNV 2/3 -
X-48374144-C-T PORCN c.953C>T p.Ala318Val Missense 9/13 -
X-48369684-G-GG PORCN c.137_137dup - SpliceAcceptorInsertion 3/13 -
X-48371020-C-T PORCN c.599C>T p.Ala200Val Missense 6/13 -
X-48374157-C-CC PORCN c.966_966dup p.Tyr323Leufs*85 Frameshift 9/13 -
14-20925154-T-G APEX1 c.444T>G p.Asp148Glu Missense 5/5 -
8-133899466-G-T TG c.1849G>T p.Val617Phe Missense 9/48 -
14-20925154-T-A APEX1 c.444T>A p.Asp148Glu Missense 5/5 -
22-21351577-A-AA LZTR1 c.2463_2463dup p.Asp822Argfs*29 Frameshift 21/21 -
8-133883707-A-G TG c.389A>G p.Gln130Arg Missense 4/48 -
17-976894-G-A ABR c.613C>T p.Arg205Trp Missense 6/22 -
3-189612029-G-A TP63 c.1781G>A p.Arg594Gln Missense 14/14 -
X-48369782-G-A PORCN c.236G>A p.Ser79Asn Missense 3/13 -
12-25380268-A-C KRAS c.190T>G p.Tyr64Asp Missense 3/6 -
6-116443735-T-A COL10A1 c.155-611A>T - IntronicSNV - 2/2
2-219756383-C-G WNT10A c.757-1113C>G - IntronicSNV - 3/3
2-219756383-C-T WNT10A c.757-1113C>T - IntronicSNV - 3/3
X-48371070-GT-G PORCN c.649delT p.Tyr217Thrfs*57 Frameshift 6/13 -
X-48372669-G-A PORCN c.728G>A p.Ser243Asn Missense 7/13 -
19-48737706-A-T CARD8 c.154T>A p.Phe52Ile Missense 5/13 -
X-32632424-T-C DMD c.1478A>G p.His493Arg Missense 12/79 -
11-10650367-G-A MRVI1 c.556C>T p.Pro186Ser Missense 5/20 -
1-156450591-G-T MEF2D c.396+35C>A - IntronicSNV - 4/11
1-156450591-G-A MEF2D c.396+35C>T - IntronicSNV - 4/11
1-156450591-G-C MEF2D c.396+35C>G - IntronicSNV - 4/11
8-133973279-G-C TG c.5428G>C p.Asp1810His Missense 28/48 -
X-48374125-CGC-TGA PORCN c.934_936delinsTGA p.Arg312* Missense 9/13 -
6-32041468-T-C TNXB c.4637A>G p.His1546Arg Missense 12/44 -
6-51768809-C-T PKHD1 c.6840G>A p.Trp2280* Nonsense 42/67 -
X-32459316-T-TT DMD c.3904dupA p.Ile1302Asnfs*3 Frameshift 28/79 -
X-32834631-T-C DMD c.484A>G p.Ser162Gly Missense 6/79 -
X-48374132-G-A PORCN c.941G>A p.Gly314Glu Missense 9/13 -
10-6053568-C-T IL2RA c.*1267G>A - 3-UTRSNV 8/8 -
X-32663121-T-C DMD c.1109A>G p.Asn370Ser Missense 10/79 -
X-48370770-G-A PORCN c.430G>A p.Gly144Ser Missense 5/13 -
7-117267807-AATAAG-A CFTR c.3700_3704delATAAG p.Ile1234Serfs*29 Frameshift 22/27 -
8-133975290-GTGCCAAGGCCAGCATCTCCAACAGAAG-G TG c.5519_5545del27 p.Val1840_glu1848del InFrameDeletion 29/48 -
6-76538306-TT-T MYO6 c.237delT p.Arg80Aspfs*15 Frameshift 4/35 -
12-25380275-T-A KRAS c.183A>T p.Gln61His Missense 3/6 -
12-25380275-T-G KRAS c.183A>C p.Gln61His Missense 3/6 -
15-78867482-A-C CHRNA5 c.107-5671A>C - IntronicSNV - 1/5
15-43908056-G-C STRC c.1708C>G p.Leu570Val Missense 4/29 -
X-48368313-C-A PORCN c.105C>A p.Ile35Ile Synonymous 2/13 -
17-48275792-CAC-C COL1A1 c.543+2_543+3delTG - IntronicDeletion - 6/50
18-29172865-G-A TTR c.76G>A p.Gly26Ser Missense 2/4 -
17-41835752-C-G SOST c.220+138G>C - IntronicSNV - 1/1
15-78888400-G-A CHRNA3 c.*546C>T - 3-UTRSNV 6/6 -
8-18258370-G-A NAT2 c.857G>A p.Gly286Glu Missense 2/2 -
8-18257795-C-T NAT2 c.282C>T p.Tyr94Tyr Synonymous 2/2 -
5-35857584-AGAAG-AGAAGAGAAG IL7R c.82+423_82+427dup - IntronicInsertion - 1/7
1-94544159-A-G ABCA4 c.1343T>C p.Met448Thr Missense 10/50 -
8-133879315-A-G TG c.67+3A>G - IntronicSNV - 1/47
3-189612278-A-G TP63 c.2030A>G p.Glu677Gly Missense 14/14 -
15-43908122-C-G STRC c.1642G>C p.Val548Leu Missense 4/29 -
16-46729965-G-A ORC6 c.599G>A p.Arg200Lys Missense 6/7 -
16-46695671-G-GC VPS35 c.2169_2170insG p.Leu724Alafs*9 Frameshift 16/17 -
X-31792289-G-A DMD c.7330C>T p.Leu2444Leu Synonymous 51/79 -
4-69536084-A-C UGT2B15 c.253T>G p.Tyr85Asp Missense 1/6 -
16-57282556-G-A ARL2BP c.207+1G>A - IntronicSNV - 3/5
X-48374168-G-A PORCN c.977G>A p.Ser326Asn Missense 9/13 -
8-133899685-G-T TG c.2068G>T p.Glu690* Nonsense 9/48 -
2-242792321-C-T PDCD1 c.*889G>A - 3-UTRSNV 5/5 -
8-133895059-G-A TG c.890G>A p.Cys297Tyr Missense 8/48 -
X-48369727-T-G PORCN c.181T>G p.Phe61Val Missense 3/13 -
12-25378649-T-C KRAS c.349A>G p.Lys117Glu Missense 4/6 -
17-975877-GCA-G ABR c.759_760delTG p.Ala254Serfs*54 Frameshift 7/22 -
X-32834670-G-A DMD c.445C>T p.Arg149Cys Missense 6/79 -
19-45411110-T-C APOE c.137T>C p.Leu46Pro Missense 3/4 -
14-30396460-G-A PRKD1 c.259C>T p.Gln87* Nonsense 1/18 -
6-47556630-A-C CD2AP c.1108+6829A>C - IntronicSNV - 11/17
17-973251-G-A ABR c.863C>T p.Thr288Ile Missense 8/22 -
17-7534678-C-T SHBG c.554C>T p.Pro185Leu Missense 4/8 -
18-29178610-C-T TTR c.416C>T p.Thr139Met Missense 4/4 -
17-915977-A-G ABR c.1801T>C p.Ser601Pro Missense 17/22 -
17-29483142-A-T NF1 c.202A>T p.Met68Leu Missense 2/57 -
16-57282556-G-T ARL2BP c.207+1G>T - IntronicSNV - 3/5
7-117251754-G-A CFTR c.3259G>A p.Ala1087Thr Missense 20/27 -
16-23641218-G-A PALB2 c.2257C>T p.Arg753* Nonsense 5/13 -
11-65978677-C-T PACS1 c.607C>T p.Arg203Trp Missense 4/24 -
17-41831956-T-C SOST c.*754A>G - 3-UTRSNV 2/2 -
1-247587160-A-T NLRP3 c.415A>T p.Lys139* Nonsense 3/9 -
13-113745611-T-G MCF2L c.2953+1569T>G - IntronicSNV - 26/29
3-46586622-T-C LRRC2 c.247A>G p.Thr83Ala Missense 3/9 -
5-70247771-T-C SMN1 c.838T>C p.Phe280Leu Missense 8/9 -
17-29496928-TTGTT-T NF1 c.499_502delTGTT p.Cys167Glnfs*10 Frameshift 5/57 -
3-46586622-T-G LRRC2 c.247A>C p.Thr83Pro Missense 3/9 -
X-48371059-A-AA PORCN c.638dupA p.Tyr213*fs*1 Nonsense 6/13 -
16-23647214-TT-T PALB2 c.654delA p.Asp219Thrfs*4 Frameshift 4/13 -
1-10464225-G-A PGD c.338G>A p.Cys113Tyr Missense 5/13 -
2-27730940-T-C GCKR c.1337T>C p.Leu446Pro Missense 15/19 -
2-219746115-C-T WNT10A c.113+285C>T - IntronicSNV - 1/3
7-117199646-TCTT-T CFTR c.1521_1523delCTT p.Phe508delPhe InFrameDeletion 11/27 -
1-94544241-G-C ABCA4 c.1261C>G p.Leu421Val Missense 10/50 -
16-57284424-G-A ARL2BP c.390+5G>A - IntronicSNV - 5/5
12-88483245-G-T CEP290 c.3593C>A p.Ser1198* Nonsense 31/54 -
9-127262527-C-T NR5A1 c.712G>A p.Asp238Asn Missense 4/7 -
6-43738350-C-G VEGFA c.1-94C>G - 5-UTRSNV 1/8 -
9-21816528-A-G MTAP c.121-185A>G - IntronicSNV - 2/7
8-133909980-C-T TG c.3088C>T p.Gln1030* Nonsense 12/48 -
15-78930510-A-T CHRNB4 c.56-2581T>A - IntronicSNV - 1/5
6-32064138-GG-G TNXB c.1493delC p.Pro498Leufs*73 Frameshift 3/44 -
X-48372947-C-T PORCN c.847C>T p.Leu283Leu Synonymous 8/13 -
X-48375634-CC-C PORCN c.1204delC p.Leu402Trpfs*48 Frameshift 12/13 -
18-44149559-C-A LOXHD1 c.2090G>T p.Gly697Val Missense 16/40 -
X-48368283-C-A PORCN c.75C>A p.Gly25Gly Synonymous 2/13 -
2-49190981-C-T FSHR c.979G>A p.Asp327Asn Missense 10/10 -
8-133895230-A-C TG c.1061A>C p.Glu354Ala Missense 8/48 -
15-78857986-C-G CHRNA5 c.1-76C>G - 5-UTRSNV 1/6 -
17-48266286-G-A COL1A1 c.3023C>T p.Pro1008Leu Missense 41/51 -
7-65552355-C-T ASL c.637C>T p.Arg213* Nonsense 9/17 -
17-40057994-C-G ACLY c.1138G>C p.Gly380Arg Missense 11/29 -
13-20763691-CC-C GJB2 c.35delG p.Gly12Valfs*2 Frameshift 2/2 -
7-117232003-G-A CFTR c.1782G>A p.Leu594Leu Synonymous 14/27 -
1-172410904-C-A C1orf105 c.22-3309C>A - IntronicSNV - 1/6
6-32035665-GG-G TNXB c.6318delC p.Ser2107Profs*5 Frameshift 18/44 -
14-30396538-G-A PRKD1 c.181C>T p.Pro61Ser Missense 1/18 -
21-43800278-GG-G TMPRSS3 c.999delC p.Asp334Metfs*23 Frameshift 10/13 -
7-117149147-G-A CFTR c.224G>A p.Arg75Gln Missense 3/27 -
16-89831437-C-T FANCA c.2639G>A p.Arg880Gln Missense 28/43 -
16-23646234-C-T PALB2 c.1633G>A p.Glu545Lys Missense 4/13 -
18-29178899-C-T TTR c.*261C>T - 3-UTRSNV 4/4 -
8-133900770-AA-A TG c.2718delA p.Glu907Asnfs*59 Frameshift 10/48 -
17-994936-T-C ABR c.389A>G p.Gln130Arg Missense 3/22 -
8-133953766-G-A TG c.5212G>A p.Val1738Ile Missense 26/48 -
19-56515087-T-A NLRP5 c.68T>A p.Val23Asp Missense 2/15 -
6-138196066-T-C TNFAIP3 c.380T>C p.Phe127Ser Missense 3/9 -
X-48370799-G-A PORCN c.459G>A p.Val153Val Synonymous 5/13 -
12-25398224-T-C KRAS c.95A>G p.Tyr32Cys Missense 2/6 -
12-25378583-T-A KRAS c.415A>T p.Ile139Phe Missense 4/6 -
7-87160618-A-T ABCB1 c.2677T>A p.Ser893Thr Missense 22/29 -
7-87160618-A-C ABCB1 c.2677T>G p.Ser893Ala Missense 22/29 -
12-25398244-C-A KRAS c.75G>T p.Gln25His Missense 2/6 -
8-133925377-AGA-A TG c.4245_4246delGA p.Lys1415Asnfs*36 Frameshift 20/48 -
12-53777398-A-G SP1 c.1523A>G p.Asn508Ser Missense 3/6 -
11-31823122-T-G PAX6 c.386A>C p.Asp129Ala Missense 7/14 -
19-11227326-C-A LDLR c.1706-209C>A - IntronicSNV - 11/17
X-48375666-C-T PORCN c.1236C>T p.Asp412Asp Synonymous 12/13 -
17-29553555-G-T NF1 c.2104G>T p.Ala702Ser Missense 18/57 -
15-78894339-G-A CHRNA3 c.645C>T p.Tyr215Tyr Synonymous 5/6 -
16-21698930-G-T OTOA c.359G>T p.Arg120Leu Missense 3/24 -
X-48372973-C-G PORCN c.873C>G p.Val291Val Synonymous 8/13 -
16-23647416-G-A PALB2 c.451C>T p.Gln151* Nonsense 4/13 -
X-48375617-T-TGCCG PORCN c.1187_1188insGCCG p.Ile396Metfs*13 Frameshift 12/13 -
15-78857939-T-G CHRNA5 c.1-123T>G - 5-UTRSNV 1/6 -
11-64544055-G-T SF1 c.75C>A p.Asp25Glu Missense 2/13 -
X-48368301-TG-T PORCN c.93delG p.Leu32Serfs*20 Frameshift 2/13 -
18-29178513-G-C TTR c.337-18G>C - IntronicSNV - 3/3
12-21011480-T-G SLCO1B3 c.334T>G p.Ser112Ala Missense 5/16 -
9-846964-C-A DMRT1 c.359C>A p.Ala120Asp Missense 2/5 -
10-124357530-T-C DMBT1 c.1459+2T>C - IntronicSNV - 15/39
6-32064176-G-A TNXB c.1454C>T p.Pro485Leu Missense 3/44 -
14-30132916-C-A PRKD1 c.685G>T p.Glu229* Nonsense 4/18 -
3-124577826-C-T ITGB5 c.361+263G>A - IntronicSNV - 3/14
13-20763173-G-C GJB2 c.548C>G p.Ser183Cys Missense 2/2 -
1-10464273-G-A PGD c.386G>A p.Ser129Asn Missense 5/13 -
7-117267615-C-G CFTR c.3508C>G p.Pro1170Ala Missense 22/27 -
14-23598870-G-A SLC7A8 c.937C>T p.Arg313Cys Missense 7/9 -
14-23598870-G-T SLC7A8 c.937C>A p.Arg313Ser Missense 7/9 -
X-48372953-C-T PORCN c.853C>T p.Arg285Trp Missense 8/13 -
5-95252594-C-A ELL2 c.317+2534G>T - IntronicSNV - 3/11
1-112046557-C-T TMIGD3 c.108-13173G>A - IntronicSNV - 1/5
1-94514477-G-A ABCA4 c.2690C>T p.Thr897Ile Missense 18/50 -
7-87138645-A-T ABCB1 c.3435T>A p.Ile1145Ile Synonymous 27/29 -
6-7543123-A-T DSP c.170+805A>T - IntronicSNV - 1/23
X-48369799-G-GC PORCN c.253_254insC p.Val85Alafs*27 Frameshift 3/13 -
17-40481529-G-C STAT3 c.1233+43C>G - IntronicSNV - 13/23
12-53776407-G-C SP1 c.532G>C p.Ala178Pro Missense 3/6 -
X-48370305-A-G PORCN c.355A>G p.Thr119Ala Missense 4/13 -
X-48370824-G-A PORCN c.484G>A p.Val162Met Missense 5/13 -
17-41836082-C-T SOST c.28G>A p.Val10Ile Missense 1/2 -
5-70241990-C-T SMN1 c.821C>T p.Thr274Ile Missense 7/9 -
7-117232303-G-A CFTR c.2082G>A p.Gly694Gly Synonymous 14/27 -
8-133879313-G-T TG c.67+1G>T - IntronicSNV - 1/47
16-23646729-CT-C PALB2 c.1138delA p.Ser380Valfs*44 Frameshift 4/13 -
22-42523805-C-T CYP2D6 c.985+39G>A - IntronicSNV - 6/8
3-189456564-G-C TP63 c.324+1G>C - IntronicSNV - 3/13
17-29560168-G-C NF1 c.3645G>C p.Met1215Ile Missense 27/57 -
8-24261526-A-T ADAMDEC1 c.1331A>T p.Asn444Ile Missense 13/14 -
5-70237284-CT-C SMN1 c.222delT p.Ala75Leufs*74 Frameshift 3/9 -
2-182374534-A-G ITGA4 c.1845A>G p.Thr615Thr Synonymous 16/28 -
2-182374534-A-C ITGA4 c.1845A>C p.Thr615Thr Synonymous 16/28 -
3-12393125-C-G PPARG c.1-28080C>G - IntronicSNV - 1/6
17-40481529-G-T STAT3 c.1233+43C>A - IntronicSNV - 13/23
17-40481529-G-A STAT3 c.1233+43C>T - IntronicSNV - 13/23
12-88512314-TT-T CEP290 c.1666delA p.Ile556Phefs*17 Frameshift 17/54 -
3-99481539-G-T COL8A1 c.-4+17674G>T - intron_variant - 3/4
11-116660686-G-A APOA5 c.*158C>T - 3-UTRSNV 4/4 -
17-29490253-T-C NF1 c.338T>C p.Leu113Ser Missense 4/57 -
6-137540536-G-C IFNGR1 c.1-72C>G - 5-UTRSNV 1/7 -
6-137540536-G-A IFNGR1 c.1-72C>T - 5-UTRSNV 1/7 -
5-95255724-A-G ELL2 c.196-475T>C - IntronicSNV - 2/11
17-41832390-G-A SOST c.*320C>T - 3-UTRSNV 2/2 -
21-43802188-G-A TMPRSS3 c.938C>T p.Pro313Leu Missense 9/13 -
17-48266749-C-T COL1A1 c.2818G>A p.Asp940Asn Missense 39/51 -
12-25378629-TCT-TGG KRAS c.367_369delAGAinsTGG p.Arg123Trp Missense 4/6 -
1-22974290-G-A C1QC c.*14G>A - 3-UTRSNV 3/3 -
10-96702047-C-T CYP2C9 c.430C>T p.Arg144Cys Missense 3/9 -
10-126695673-G-A CTBP2 c.59-3612C>T - IntronicSNV - 3/10
17-48273998-C-CTTTGGTGATGAACTTGCTAGCCGCAAGT COL1A1 c.837_838insACTTGCGGCTAGCAAGTTCATCACCAAA p.Ala280Thrfs*4 Frameshift 12/51 -
X-48372975-C-T PORCN c.875C>T p.Thr292Ile Missense 8/13 -
12-88487664-C-T CEP290 c.3192G>A p.Met1064Ile Missense 28/54 -
9-842146-A-G DMRT1 c.308A>G p.Lys103Arg Missense 1/5 -
17-42427676-G-A GRN c.430G>A p.Asp144Asn Missense 5/13 -
8-133923690-G-A TG c.4071G>A p.Leu1357Leu Synonymous 19/48 -
12-88476877-G-C CEP290 c.4943C>G p.Ser1648* Nonsense 37/54 -
9-5468257-G-C CD274 c.*395G>C - 3-UTRSNV 7/7 -
12-88524198-C-T CEP290 c.517-1G>A - IntronicSNV - 8/53
16-89807257-AGAA-A FANCA c.3788_3790delTCT p.Phe1263delPhe InFrameDeletion 38/43 -
X-48369750-TCCAGCTGCACA-T PORCN c.204_214del11 p.Gln69Glyfs*39 Frameshift 3/13 -
12-21011480-T-C SLCO1B3 c.334T>C p.Ser112Pro Missense 5/16 -
2-27730940-T-G GCKR c.1337T>G p.Leu446Arg Missense 15/19 -
9-127253419-G-A NR5A1 c.1079C>T p.Ala360Val Missense 6/7 -
1-22965687-C-T C1QA c.525C>T p.Ile175Ile Synonymous 3/3 -
17-40042489-T-G ACLY c.1948A>C p.Lys650Gln Missense 18/29 -
X-48369774-G-GA PORCN c.228_229insA p.Leu77Thrfs*35 Frameshift 3/13 -
8-133883776-A-C TG c.458A>C p.Gln153Pro Missense 4/48 -
2-61761416-G-A XPO1 c.1-384C>T - IntronicSNV 1/25 -
2-61761416-G-C XPO1 c.1-384C>G - IntronicSNV 1/25 -
7-117227841-G-A CFTR c.1633G>A p.Gly545Arg Missense 12/27 -
18-29178513-G-A TTR c.337-18G>A - IntronicSNV - 3/3
17-7222391-C-A NEURL4 c.3662G>T p.Gly1221Val Missense 22/29 -
11-65161450-C-T FRMD8 c.356-62C>T - IntronicSNV - 4/10
19-48668830-G-A LIG1 c.1-7C>T - 5-UTRSNV 2/28 -
4-89052957-G-A ABCG2 c.376C>T p.Gln126* Nonsense 4/16 -
8-24261526-A-G ADAMDEC1 c.1331A>G p.Asn444Ser Missense 13/14 -
7-141672705-G-A TAS2R38 c.785C>T p.Ala262Val Missense 1/1 -
8-18257854-T-C NAT2 c.341T>C p.Ile114Thr Missense 2/2 -
22-29121087-A-C CHEK2 c.599T>G p.Ile200Ser Missense 5/16 -
7-117171169-G-T CFTR c.489+1G>T - IntronicSNV - 4/26
7-117246801-C-T CFTR c.2982C>T p.Phe994Phe Synonymous 18/27 -
X-48374176-C-T PORCN c.985C>T p.Leu329Leu Synonymous 9/13 -
7-117250575-G-C CFTR c.2991G>C p.Leu997Phe Missense 19/27 -
8-133899131-G-A TG c.1514G>A p.Gly505Asp Missense 9/48 -
X-48372740-G-A PORCN c.799G>A p.Asp267Asn Missense 7/13 -
8-18258103-G-A NAT2 c.590G>A p.Arg197Gln Missense 2/2 -
8-133899488-G-A TG c.1871G>A p.Gly624Glu Missense 9/48 -
19-48668830-G-C LIG1 c.1-7C>G - 5-UTRSNV 2/28 -
8-133880381-C-T TG c.89C>T p.Pro30Leu Missense 2/48 -
17-962094-C-T ABR c.1085G>A p.Gly362Asp Missense 10/22 -
11-116662579-C-T APOA5 c.1-3G>A - 5-UTRSNV 2/4 -
15-78887994-A-G CHRNA3 c.*952T>C - 3-UTRSNV 6/6 -
17-7536527-G-A SHBG c.1066G>A p.Asp356Asn Missense 8/8 -
12-88524318-CT-C CEP290 c.516+4delA - IntronicDeletion - 8/53
11-64535631-G-A SF1 c.1015C>T p.Pro339Ser Missense 9/13 -
X-48374166-CC-C PORCN c.975delC p.Ser326Alafs*62 Frameshift 9/13 -
14-92555071-T-A ATXN3 c.475+3A>T - IntronicSNV - 6/10
7-87179601-A-G ABCB1 c.1236T>C p.Gly412Gly Synonymous 13/29 -
16-46712902-C-T VPS35 c.673G>A p.Val225Met Missense 6/17 -
19-11227326-C-G LDLR c.1706-209C>G - IntronicSNV - 11/17
X-48369685-T-G PORCN c.139T>G p.Leu47Val Missense 3/13 -
17-48273698-G-A COL1A1 c.934C>T p.Arg312Cys Missense 14/51 -
12-21331549-T-C SLCO1B1 c.521T>C p.Val174Ala Missense 6/15 -
17-48267905-G-C COL1A1 c.2396C>G p.Pro799Arg Missense 34/51 -
5-131970885-T-G RAD50 c.3390-1922T>G - IntronicSNV - 21/24
8-133885348-G-A TG c.520G>A p.Gly174Arg Missense 5/48 -
2-43540125-T-G THADA c.4438+7460A>C - IntronicSNV - 31/37
18-52896218-C-T TCF4 c.1727G>A p.Arg576Gln Missense 18/20 -
9-847041-C-G DMRT1 c.436C>G p.Leu146Val Missense 2/5 -
X-32632477-C-T DMD c.1425G>A p.Glu475Glu Synonymous 12/79 -
8-133899743-GAGGG-G TG c.2126_2129delAGGG p.Glu709Valfs*11 Frameshift 9/48 -
1-11082679-A-G TARDBP c.1213A>G p.Met405Val Missense 6/6 -
6-160575837-G-A SLC22A1 c.1393G>A p.Gly465Arg Missense 9/11 -
6-160575837-G-C SLC22A1 c.1393G>C p.Gly465Arg Missense 9/11 -
X-48374479-G-A PORCN c.1085G>A p.Ser362Asn Missense 11/13 -
13-93331886-G-A GPC5 c.1562-186649G>A - IntronicSNV - 7/7
1-22964234-G-A C1QA c.125G>A p.Arg42Gln Missense 2/3 -
X-70073098-G-A TEX11 c.450C>T p.Ala150Ala Synonymous 7/31 -
9-2643642-C-T VLDLR c.835C>T p.Arg279* Nonsense 6/19 -
1-26527951-G-T CATSPER4 c.1306G>T p.Asp436Tyr Missense 9/10 -
1-247588858-C-A NLRP3 c.2113C>A p.Gln705Lys Missense 3/9 -
11-64533502-G-C SF1 c.1708C>G p.Pro570Ala Missense 13/13 -
5-35861068-T-C IL7R c.197T>C p.Ile66Thr Missense 2/8 -
8-133898773-C-T TG c.1156C>T p.His386Tyr Missense 9/48 -
10-124361429-A-G DMBT1 c.1963A>G p.Asn655Asp Missense 19/40 -
13-20763620-A-G GJB2 c.101T>C p.Met34Thr Missense 2/2 -
X-32827630-T-TT DMD c.629_629dup p.Lys211Glufs*6 Frameshift 7/79 -
17-48267054-G-A COL1A1 c.2653C>T p.Pro885Ser Missense 38/51 -
21-43809142-C-T TMPRSS3 c.218G>A p.Cys73Tyr Missense 4/13 -
17-29527538-A-G NF1 c.987A>G p.Lys329Lys Synonymous 9/57 -
1-94514448-G-A ABCA4 c.2719C>T p.Pro907Ser Missense 18/50 -
X-48374308-C-G PORCN c.1021C>G p.Leu341Val Missense 10/13 -
16-46729998-G-A ORC6 c.631+1G>A - IntronicSNV - 6/6
8-18258316-G-T NAT2 c.803G>T p.Arg268Ile Missense 2/2 -
17-48266127-GT-G COL1A1 c.3075delA p.Arg1026Glufs*82 Frameshift 42/51 -
X-38180327-T-C RPGR c.263A>G p.Lys88Arg Missense 4/19 -
5-95259862-C-T ELL2 c.196-4613G>A - IntronicSNV - 2/11
10-96798749-T-C CYP2C8 c.1196A>G p.Lys399Arg Missense 8/9 -
17-29527461-C-T NF1 c.910C>T p.Arg304* Nonsense 9/57 -
6-51910842-G-C PKHD1 c.2552C>G p.Ser851Cys Missense 24/67 -
7-117188741-G-T CFTR c.1256G>T p.Arg419Ile Missense 10/27 -
X-48372935-C-T PORCN c.835C>T p.Leu279Leu Synonymous 8/13 -
17-29701033-AATCGACAAGGAGAA-A NF1 c.8317_8330del14 p.Ile2773Argfs*2 Frameshift 57/57 -
11-67353579-C-T GSTP1 c.341C>T p.Ala114Val Missense 6/7 -
X-32867915-T-C DMD c.116A>G p.Asn39Ser Missense 3/79 -
8-133900745-G-A TG c.2693G>A p.Cys898Tyr Missense 10/48 -
5-95253108-C-G ELL2 c.317+2020G>C - IntronicSNV - 3/11
1-216497628-C-A USH2A c.1210G>T p.Glu404* Nonsense 7/21 -
3-151161583-G-C IGSF10 c.5152C>G p.Arg1718Gly Missense 5/6 -
17-29483008-T-A NF1 c.68T>A p.Ile23Lys Missense 2/57 -
8-133883612-A-AA TG c.294_294dupA p.Gln99Thrfs*12 Frameshift 4/48 -
19-41497274-C-T CYP2B6 c.64C>T p.Arg22Cys Missense 1/9 -
12-25398315-T-C KRAS c.4A>G p.Thr2Ala Missense 2/6 -
8-18258316-G-A NAT2 c.803G>A p.Arg268Lys Missense 2/2 -
X-48372938-A-ACTTGCGGCTAGCAAGTTCATCACCAAAA PORCN c.838_839insCTTGCGGCTAGCAAGTTCATCACCAAAA p.Asn280Thrfs*4 Frameshift 8/13 -
8-133925296-GAG-G TG c.4164_4165delAG - SpliceAcceptorDeletion 20/48 -
14-30066717-C-A PRKD1 c.2414G>T p.Trp805Leu Missense 16/18 -
X-48369815-G-A PORCN c.269G>A p.Arg90Gln Missense 3/13 -
11-64535624-G-T SF1 c.1022C>A p.Ala341Asp Missense 9/13 -
17-29654716-C-T NF1 c.5405C>T p.Ser1802Phe Missense 37/57 -
17-29509529-G-A NF1 c.734G>A p.Cys245Tyr Missense 8/57 -
X-48378779-A-C PORCN c.1268A>C p.Tyr423Ser Missense 13/13 -
X-48371070-T-TT PORCN c.649_649dup p.Tyr217Leufs*8 Frameshift 6/13 -
17-29559134-G-A NF1 c.3241G>A p.Ala1081Thr Missense 25/57 -
6-51938274-C-T PKHD1 c.514G>A p.Glu172Lys Missense 7/67 -
17-1012199-C-T ABR c.110G>A p.Gly37Glu Missense 1/22 -
16-56536645-TCT-T BBS2 c.881_882delAG p.Glu294Glyfs*29 Frameshift 8/17 -
8-133880449-G-A TG c.157G>A p.Ala53Thr Missense 2/48 -
14-20925154-T-C APEX1 c.444T>C p.Asp148Asp Synonymous 5/5 -
17-40057994-C-T ACLY c.1138G>A p.Gly380Ser Missense 11/29 -
5-171337686-T-C FBXW11 c.263A>G p.Gln88Arg Missense 3/13 -
10-96602623-G-A CYP2C19 c.991G>A p.Val331Ile Missense 7/9 -
17-982606-C-T ABR c.553G>A p.Asp185Asn Missense 5/22 -
1-112048264-T-C TMIGD3 c.108-14880A>G - IntronicSNV - 1/5
X-48371055-C-T PORCN c.634C>T p.Pro212Ser Missense 6/13 -
X-48370808-TGGGCTACCTCTACTT-T PORCN c.468_482del15 p.Met156_phe161delinsIle MultiAAMissense 5/13 -
5-95265556-G-A ELL2 c.196-10307C>T - IntronicSNV - 2/11
X-48369711-C-A PORCN c.165C>A p.Ser55Arg Missense 3/13 -
6-32063503-GGAAG-G TNXB c.2125_2128delTTCC p.Phe709Glufs*46 Frameshift 3/44 -
10-124380847-GGC-G DMBT1 c.3288_3289delGC p.Trp1096Cysfs*67 Frameshift 28/40 -
17-48276685-GG-G COL1A1 c.375delC p.Ala126Glnfs*139 Frameshift 5/51 -
X-48374135-C-T PORCN c.944C>T p.Thr315Ile Missense 9/13 -
22-21348880-T-C LZTR1 c.1649T>C p.Val550Ala Missense 15/21 -
17-41831443-G-GC SOST c.642+1266_642+1267insG - 3-UTRInsertion 2/2 -
6-32065038-C-T TNXB c.592G>A p.Val198Ile Missense 3/44 -
8-133910432-A-G TG c.3158A>G p.Asp1053Gly Missense 13/48 -
3-124604858-A-G ITGB5 c.70+920T>C - IntronicSNV - 1/14
3-189607229-C-G TP63 c.1608C>G p.His536Gln Missense 12/14 -
5-70238683-C-T SMN1 c.613C>T p.Leu205Leu Synonymous 5/9 -
1-10460550-T-C PGD c.185T>C p.Val62Ala Missense 3/13 -
1-26527951-G-A CATSPER4 c.1306G>A p.Asp436Asn Missense 9/10 -
4-89052323-G-T ABCG2 c.421C>A p.Gln141Lys Missense 5/16 -
17-41833123-C-T SOST c.229G>A p.Glu77Lys Missense 2/2 -
17-48270377-A-T COL1A1 c.1799T>A p.Val600Asp Missense 26/51 -
13-113745611-T-A MCF2L c.2953+1569T>A - IntronicSNV - 26/29
X-32834685-C-T DMD c.430G>A p.Val144Ile Missense 6/79 -
21-43815499-C-A TMPRSS3 c.28G>T p.Glu10* Nonsense 2/13 -
X-38178213-C-T RPGR c.338G>A p.Gly113Glu Missense 5/19 -
X-48374494-TC-T PORCN c.1100delC p.Ser367*fs*1 Frameshift 11/13 -
5-70238352-A-G SMN1 c.441A>G p.Glu147Glu Synonymous 4/9 -
12-88530369-A-G CEP290 c.441+51T>C - IntronicSNV - 6/53
3-12475557-C-T PPARG c.1347C>T p.His449His Synonymous 7/7 -
17-40042489-T-C ACLY c.1948A>G p.Lys650Glu Missense 18/29 -
X-48370814-C-T PORCN c.474C>T p.Tyr158Tyr Synonymous 5/13 -
6-31137992-C-T POU5F1 c.405+1G>A - IntronicSNV - 1/4
22-29121087-A-G CHEK2 c.599T>C p.Ile200Thr Missense 5/16 -
16-89806423-G-A FANCA c.3913C>T p.Leu1305Phe Missense 39/43 -
X-48378833-G-GG PORCN c.1322_1322dup p.Cys442Metfs*18 Frameshift 13/13 -
9-2648783-G-A VLDLR c.2077G>A p.Val693Ile Missense 14/19 -
16-46729931-G-T ORC6 c.565G>T p.Glu189* Nonsense 6/7 -
X-48370752-G-A PORCN c.412G>A p.Gly138Ser Missense 5/13 -
17-42427661-T-C GRN c.415T>C p.Cys139Arg Missense 5/13 -
X-48372984-AA-A PORCN c.884delA p.Asn295Thrfs*8 Frameshift 8/13 -
8-133882011-T-A TG c.214T>A p.Cys72Ser Missense 3/48 -
17-29559185-G-A NF1 c.3292G>A p.Ala1098Thr Missense 25/57 -
X-48374107-G-C PORCN c.916G>C p.Val306Leu Missense 9/13 -
8-133885312-A-G TG c.484A>G p.Arg162Gly Missense 5/48 -
X-48368308-G-A PORCN c.100G>A p.Ala34Thr Missense 2/13 -
6-138196066-T-G TNFAIP3 c.380T>G p.Phe127Cys Missense 3/9 -
X-48369809-T-A PORCN c.263T>A p.Leu88His Missense 3/13 -
17-48271963-G-A COL1A1 c.1486C>T p.Pro496Ser Missense 22/51 -
15-78882925-G-A CHRNA5 c.1192G>A p.Asp398Asn Missense 5/6 -
12-88462424-T-C CEP290 c.6012-2A>G - IntronicSNV - 43/53
7-117144354-T-C CFTR c.101T>C p.Leu34Ser Missense 2/27 -
11-65161450-C-A FRMD8 c.356-62C>A - IntronicSNV - 4/10
10-134045675-C-A STK32C c.319-4043G>T - IntronicSNV - 2/11
16-23649201-G-T PALB2 c.181C>A p.Gln61Lys Missense 3/13 -
19-44057574-G-A XRCC1 c.580C>T p.Arg194Trp Missense 6/17 -
6-32064038-T-TT TNXB c.1592_1592dup p.Asp531Glufs*16 Frameshift 3/44 -
X-48374291-A-G PORCN c.1004A>G p.His335Arg Missense 10/13 -
16-71606226-G-C TAT c.569C>G p.Pro190Arg Missense 6/12 -
X-48374291-A-C PORCN c.1004A>C p.His335Pro Missense 10/13 -
4-70865394-CA-GT STATH c.62_63delCAinsGT p.Ser21Cys Missense 3/6 -
4-89052323-G-C ABCG2 c.421C>G p.Gln141Glu Missense 5/16 -
X-48368302-C-T PORCN c.94C>T p.Leu32Phe Missense 2/13 -
15-43910020-G-A STRC c.599C>T p.Pro200Leu Missense 2/29 -
X-48371010-C-T PORCN c.589C>T p.Leu197Leu Synonymous 6/13 -
8-133912550-AA-A TG c.3399delA p.Glu1134Serfs*70 Frameshift 15/48 -
5-171303360-G-A FBXW11 c.1087C>T p.Arg363Trp Missense 8/13 -
7-117175464-AG-CA CFTR c.742_743delAGinsCA p.Arg248Gln Missense 6/27 -
7-65551735-G-A ASL c.529G>A p.Ala177Thr Missense 8/17 -
16-71609909-T-A TAT c.256A>T p.Asn86Tyr Missense 3/12 -
10-96541616-G-C CYP2C19 c.681G>C p.Pro227Pro Synonymous 5/9 -
10-96541616-G-A CYP2C19 c.681G>A p.Pro227Pro Synonymous 5/9 -
6-7543123-A-C DSP c.170+805A>C - IntronicSNV - 1/23
X-48371050-T-TT PORCN c.629_629dup p.Tyr213Leufs*12 Frameshift 6/13 -
7-117144350-G-A CFTR c.97G>A p.Glu33Lys Missense 2/27 -
8-133913599-C-T TG c.3435C>T p.Cys1145Cys Synonymous 16/48 -
17-41831706-C-G SOST c.*1004G>C - 3-UTRSNV 2/2 -
16-57282482-T-G ARL2BP c.134T>G p.Met45Arg Missense 3/6 -
17-41831706-C-T SOST c.*1004G>A - 3-UTRSNV 2/2 -
X-48370755-T-C PORCN c.415T>C p.Phe139Leu Missense 5/13 -
1-22974281-G-A C1QC c.*5G>A - 3-UTRSNV 3/3 -
X-48370320-C-T PORCN c.370C>T p.Arg124* Nonsense 4/13 -
2-209113192-G-A IDH1 c.315C>T p.Gly105Gly Synonymous 4/10 -
X-153296806-G-A MECP2 c.473C>T p.Thr158Met Missense 4/4 -
11-64536705-C-T SF1 c.769G>A p.Asp257Asn Missense 7/13 -
X-32503186-G-A DMD c.2653C>T p.Pro885Ser Missense 21/79 -
X-48372975-C-CT PORCN c.875_876insT p.Ser293Lysfs*12 Frameshift 8/13 -
7-117171119-A-G CFTR c.440A>G p.His147Arg Missense 4/27 -
9-5470497-A-T CD274 c.*2635A>T - 3-UTRSNV 7/7 -
X-48374466-GGCTCGGATCCTCAGTGCCTG-G PORCN c.1072_1091del20 p.Ala358Cysfs*43 Frameshift 11/13 -
9-5470497-A-G CD274 c.*2635A>G - 3-UTRSNV 7/7 -
X-48371019-G-A PORCN c.598G>A p.Ala200Thr Missense 6/13 -
7-65551783-C-G ASL c.577C>G p.Arg193Gly Missense 8/17 -
17-48273703-C-T COL1A1 c.929G>A p.Arg310Lys Missense 14/51 -
4-89670155-C-T FAM13A c.1131G>A p.Pro377Pro Synonymous 11/18 -
1-112042149-C-T ADORA3 c.*423G>A - 3-UTRSNV 2/2 -
X-48372662-C-T PORCN c.721C>T p.His241Tyr Missense 7/13 -
1-247587175-G-A NLRP3 c.430G>A p.Val144Met Missense 3/9 -
X-31222135-CTTC-C DMD c.9749_9751delAAG p.Glu3250delGlu InFrameDeletion 67/79 -
4-123373133-T-A IL2 c.352-116A>T - IntronicSNV - 3/3
4-123373133-T-C IL2 c.352-116A>G - IntronicSNV - 3/3
17-914017-C-T ABR c.2077G>A p.Glu693Lys Missense 19/22 -
8-119945344-T-G TNFRSF11B c.226A>C p.Thr76Pro Missense 2/5 -
X-48369827-A-G PORCN c.281A>G p.His94Arg Missense 3/13 -
X-48370309-G-T PORCN c.359G>T p.Trp120Leu Missense 4/13 -
19-10916633-T-C DNM2 c.1535T>C p.Ile512Thr Missense 13/20 -
5-70240522-CC-C SMN1 c.665delC p.Pro222Hisfs*21 Frameshift 6/9 -
X-48369760-A-G PORCN c.214A>G p.Met72Val Missense 3/13 -
16-57282448-G-C ARL2BP c.101-1G>C - IntronicSNV - 2/5
16-56548569-TGT-GAC BBS2 c.139_141delACAinsGAC p.Thr47Asp Missense 2/17 -
7-117171029-G-A CFTR c.350G>A p.Arg117His Missense 4/27 -