PMID: 23633020

Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.

The Journal of investigative dermatology
JY Tung, AK Kiefer, M Mullins, U Francke, N Eriksson
2013-11

750 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-186120139-T-A HMCN1 c.14609-193T>A - IntronicSNV - 93/106
1-186120139-T-G HMCN1 c.14609-193T>G - IntronicSNV - 93/106
16-53810943-C-T FTO c.46-33109C>T - IntronicSNV - 1/8
10-28453981-G-T MPP7 c.157-14993C>A - IntronicSNV - 5/18
5-64260198-A-G CWC27 c.1043-7332A>G - IntronicSNV - 11/13
5-64258862-G-C CWC27 c.1043-8668G>C - IntronicSNV - 11/13
5-64258862-G-A CWC27 c.1043-8668G>A - IntronicSNV - 11/13
16-15930535-G-A MYH11 c.345+1230C>T - IntronicSNV - 2/42
1-186039006-C-T HMCN1 c.7993+98C>T - IntronicSNV - 51/106
6-36302109-C-T C6orf222 c.-5+2380G>A - intron_variant - 1/11
16-15930250-G-T MYH11 c.345+1515C>A - IntronicSNV - 2/42
1-186083536-C-A HMCN1 c.11276+281C>A - IntronicSNV - 73/106
16-53820996-C-G FTO c.46-23056C>G - IntronicSNV - 1/8
16-53820996-C-A FTO c.46-23056C>A - IntronicSNV - 1/8
2-99172854-G-A INPP4A c.1720+700G>A - IntronicSNV - 17/25
14-61884484-G-A PRKCH c.428-25345G>A - IntronicSNV - 2/13
16-28593347-T-C SGF29 c.75+882T>C - IntronicSNV - 2/9
16-53802494-C-T FTO c.46-41558C>T - IntronicSNV - 1/8
16-53799905-A-G FTO c.46-44147A>G - IntronicSNV - 1/8
5-64276648-C-G CWC27 c.1256+3583C>G - IntronicSNV - 13/13
10-28446745-T-C MPP7 c.157-7757A>G - IntronicSNV - 5/18
6-133601339-T-C EYA4 c.33+5388T>C - IntronicSNV - 2/19
11-78640980-A-G TENM4 c.494-26412T>C - IntronicSNV - 6/33
20-45523914-G-A EYA2 c.-11+288G>A - intron_variant - 1/15
16-53794469-G-A FTO c.46-49583G>A - IntronicSNV - 1/8
10-28453046-A-G MPP7 c.157-14058T>C - IntronicSNV - 5/18
6-153397064-G-A RGS17 c.1-31911C>T - IntronicSNV - 1/4
12-32956901-C-G PKP2 c.2146-1411G>C - IntronicSNV - 10/13
6-116459190-A-G NT5DC1 c.529+20082A>G - IntronicSNV - 6/11
6-116459190-A-T NT5DC1 c.529+20082A>T - IntronicSNV - 6/11
12-109728175-G-A FOXN4 c.87-84C>T - IntronicSNV - 2/9
20-45543298-C-A EYA2 c.-11+19672C>A - intron_variant - 1/15
2-216299629-C-T FN1 c.149-82G>A - IntronicSNV - 1/43
2-216299629-C-G FN1 c.149-82G>C - IntronicSNV - 1/43
7-33583128-G-A BBS9 c.2416+9340G>A - IntronicSNV - 20/21
16-53821862-C-T FTO c.46-22190C>T - IntronicSNV - 1/8
3-112724336-G-T NEPRO c.*47C>A - 3-UTRSNV 9/9 -
3-112724336-G-A NEPRO c.*47C>T - 3-UTRSNV 9/9 -
5-64262740-T-A CWC27 c.1043-4790T>A - IntronicSNV - 11/13
16-53794469-G-C FTO c.46-49583G>C - IntronicSNV - 1/8
16-28514854-G-T IL27 c.303+162C>A - IntronicSNV - 3/4
16-28896015-C-T ATP2A1 c.544+39C>T - IntronicSNV - 6/22
16-84856889-C-A CRISPLD2 c.-75+3150C>A - intron_variant - 1/14
5-64253063-G-T CWC27 c.1043-14467G>T - IntronicSNV - 11/13
16-15930535-G-T MYH11 c.345+1230C>A - IntronicSNV - 2/42
5-64268260-T-C CWC27 c.1152+621T>C - IntronicSNV - 12/13
16-53815435-T-C FTO c.46-28617T>C - IntronicSNV - 1/8
10-126712694-C-T CTBP2 c.58+14872G>A - IntronicSNV - 3/10
16-28895130-A-C ATP2A1 c.464-766A>C - IntronicSNV - 5/22
16-28895130-A-G ATP2A1 c.464-766A>G - IntronicSNV - 5/22
2-115578511-C-G DPP10 c.60+378096C>G - IntronicSNV - 1/25
9-113675950-T-C LPAR1 c.793+27751A>G - IntronicSNV - 4/4
5-64280981-T-A CWC27 c.1256+7916T>A - IntronicSNV - 13/13
16-15928307-C-T MYH11 c.345+3458G>A - IntronicSNV - 2/42
14-61892441-A-G PRKCH c.428-17388A>G - IntronicSNV - 2/13
16-28839735-C-G ATXN2L c.742-987C>G - IntronicSNV - 6/21
1-186039340-G-A HMCN1 c.7994-404G>A - IntronicSNV - 51/106
1-186126793-G-T HMCN1 c.15256+3674G>T - IntronicSNV - 97/106
16-28839735-C-T ATXN2L c.742-987C>T - IntronicSNV - 6/21
X-38062940-A-G SRPX c.97+17009T>C - IntronicSNV - 1/9
14-61903156-T-A PRKCH c.428-6673T>A - IntronicSNV - 2/13
9-139938793-G-C NPDC1 c.113-1268C>G - IntronicSNV - 1/8
1-186135081-C-G HMCN1 c.15320-235C>G - IntronicSNV - 98/106
16-53799977-T-G FTO c.46-44075T>G - IntronicSNV - 1/8
16-84856532-G-A CRISPLD2 c.-75+2793G>A - intron_variant - 1/14
14-57085657-A-G TMEM260 c.1226+176A>G - IntronicSNV - 10/15
14-57085657-A-C TMEM260 c.1226+176A>C - IntronicSNV - 10/15
1-186054796-A-G HMCN1 c.8885-582A>G - IntronicSNV - 57/106
16-53816647-G-C FTO c.46-27405G>C - IntronicSNV - 1/8
2-216300482-T-A FN1 c.44A>T p.Gln15Leu Missense 1/44 -
5-64262064-C-A CWC27 c.1043-5466C>A - IntronicSNV - 11/13
5-64262064-C-G CWC27 c.1043-5466C>G - IntronicSNV - 11/13
5-64274587-G-A CWC27 c.1256+1522G>A - IntronicSNV - 13/13
1-25892525-T-C LDLRAP1 c.783-814T>C - IntronicSNV - 8/8
1-186085897-C-A HMCN1 c.11562-229C>A - IntronicSNV - 75/106
6-116477518-C-A NT5DC1 c.529+38410C>A - IntronicSNV - 6/11
6-116477518-C-T NT5DC1 c.529+38410C>T - IntronicSNV - 6/11
6-116489854-T-C NT5DC1 c.529+50746T>C - IntronicSNV - 6/11
16-53819367-G-A FTO c.46-24685G>A - IntronicSNV - 1/8
14-57058547-C-T TMEM260 c.344+5917C>T - IntronicSNV - 3/15
16-28843118-A-G ATXN2L c.1322-408A>G - IntronicSNV - 10/21
16-53819198-G-C FTO c.46-24854G>C - IntronicSNV - 1/8
16-53819198-G-A FTO c.46-24854G>A - IntronicSNV - 1/8
5-64240458-G-A CWC27 c.1043-27072G>A - IntronicSNV - 11/13
3-59806778-G-A FHIT c.349-68731C>T - IntronicSNV - 8/9
14-57072693-C-T TMEM260 c.636+292C>T - IntronicSNV - 5/15
16-53800200-C-T FTO c.46-43852C>T - IntronicSNV - 1/8
14-61884127-A-G PRKCH c.428-25702A>G - IntronicSNV - 2/13
6-116488577-G-A NT5DC1 c.529+49469G>A - IntronicSNV - 6/11
16-28897452-G-A ATP2A1 c.545-1058G>A - IntronicSNV - 6/22
X-38074516-T-G SRPX c.97+5433A>C - IntronicSNV - 1/9
16-53801343-C-T FTO c.46-42709C>T - IntronicSNV - 1/8
16-53806280-C-G FTO c.46-37772C>G - IntronicSNV - 1/8
5-64272107-G-A CWC27 c.1153-855G>A - IntronicSNV - 12/13
6-37623584-A-G MDGA1 c.471T>C p.Cys157Cys Synonymous 4/17 -
16-53801985-C-T FTO c.46-42067C>T - IntronicSNV - 1/8
16-28599411-A-G SGF29 c.225-1010A>G - IntronicSNV - 4/9
6-5087422-G-T PPP1R3G c.*626G>T - 3-UTRSNV 1/1 -
20-45551601-C-G EYA2 c.-11+27975C>G - intron_variant - 1/15
16-53801343-C-A FTO c.46-42709C>A - IntronicSNV - 1/8
16-28565953-A-G SGF29 c.-16+535A>G - intron_variant - 1/9
1-186055371-A-C HMCN1 c.8885-7A>C - IntronicSNV - 57/106
1-186055371-A-G HMCN1 c.8885-7A>G - IntronicSNV - 57/106
16-53822651-A-G FTO c.46-21401A>G - IntronicSNV - 1/8
16-28607070-A-G SULT1A2 c.148+34T>C - IntronicSNV - 2/7
12-109728687-G-A FOXN4 c.87-596C>T - IntronicSNV - 2/9
3-27433911-T-C SLC4A7 c.3091-612A>G - IntronicSNV - 20/24
7-73472050-C-T ELN c.1414+24C>T - IntronicSNV - 22/32
16-28589455-G-A SGF29 c.1-2936G>A - IntronicSNV - 1/9
1-186127392-T-C HMCN1 c.15256+4273T>C - IntronicSNV - 97/106
X-38009121-G-A SRPX c.1238C>T p.Ser413Phe Missense 10/10 -
6-36302213-T-C C6orf222 c.-5+2276A>G - intron_variant - 1/11
14-61886746-C-A PRKCH c.428-23083C>A - IntronicSNV - 2/13
1-186037949-C-G HMCN1 c.7879+810C>G - IntronicSNV - 50/106
14-57075022-G-A TMEM260 c.637-802G>A - IntronicSNV - 5/15
14-79936964-T-C NRXN3 c.429+3219T>C - IntronicSNV - 2/6
16-53822651-A-T FTO c.46-21401A>T - IntronicSNV - 1/8
16-28586127-T-C SGF29 c.1-6264T>C - IntronicSNV - 1/9
14-61882731-G-T PRKCH c.427+24725G>T - IntronicSNV - 2/13
20-45554748-C-T EYA2 c.-11+31122C>T - intron_variant - 1/15
1-25890835-G-A LDLRAP1 c.747+553G>A - IntronicSNV - 7/8
14-57060949-T-A TMEM260 c.344+8319T>A - IntronicSNV - 3/15
6-116477278-C-T NT5DC1 c.529+38170C>T - IntronicSNV - 6/11
14-61882731-G-A PRKCH c.427+24725G>A - IntronicSNV - 2/13
6-116503168-C-T NT5DC1 c.530-39049C>T - IntronicSNV - 6/11
10-28453145-G-C MPP7 c.157-14157C>G - IntronicSNV - 5/18
16-53812614-G-A FTO c.46-31438G>A - IntronicSNV - 1/8
16-53804965-T-C FTO c.46-39087T>C - IntronicSNV - 1/8
16-53804965-T-A FTO c.46-39087T>A - IntronicSNV - 1/8
12-57172341-A-G HSD17B6 c.314-3417A>G - IntronicSNV - 2/4
7-73476249-C-T ELN c.1786+780C>T - IntronicSNV - 26/32
5-64252840-G-A CWC27 c.1043-14690G>A - IntronicSNV - 11/13
1-25885528-G-A LDLRAP1 c.459+1770G>A - IntronicSNV - 4/8
10-28453981-G-A MPP7 c.157-14993C>T - IntronicSNV - 5/18
1-186045280-C-G HMCN1 c.8291-280C>G - IntronicSNV - 53/106
14-61898839-T-G PRKCH c.428-10990T>G - IntronicSNV - 2/13
1-186085768-T-C HMCN1 c.11562-358T>C - IntronicSNV - 75/106
20-45551311-A-T EYA2 c.-11+27685A>T - intron_variant - 1/15
16-28896015-C-A ATP2A1 c.544+39C>A - IntronicSNV - 6/22
3-171898246-T-C FNDC3B c.188-46415T>C - IntronicSNV - 3/25
14-61892191-A-T PRKCH c.428-17638A>T - IntronicSNV - 2/13
14-61894331-G-T PRKCH c.428-15498G>T - IntronicSNV - 2/13
1-186116797-G-T HMCN1 c.14608+1742G>T - IntronicSNV - 93/106
1-25891174-G-A LDLRAP1 c.748-490G>A - IntronicSNV - 7/8
5-64247280-C-A CWC27 c.1043-20250C>A - IntronicSNV - 11/13
16-28497059-T-C CLN3 c.677+609A>G - IntronicSNV - 8/14
16-28879484-A-G SH2B1 c.1041+731A>G - IntronicSNV - 2/8
20-45543298-C-T EYA2 c.-11+19672C>T - intron_variant - 1/15
14-61886905-G-A PRKCH c.428-22924G>A - IntronicSNV - 2/13
1-186082509-C-T HMCN1 c.11131+424C>T - IntronicSNV - 72/106
2-115569596-C-A DPP10 c.60+369181C>A - IntronicSNV - 1/25
16-28580685-A-G SGF29 c.1-11706A>G - IntronicSNV - 1/9
16-53810546-C-A FTO c.46-33506C>A - IntronicSNV - 1/8
16-28855727-A-G TUFM c.817+13T>C - IntronicSNV - 6/9
16-53819877-C-A FTO c.46-24175C>A - IntronicSNV - 1/8
12-32962822-G-A PKP2 c.2146-7332C>T - IntronicSNV - 10/13
16-28587597-G-T SGF29 c.1-4794G>T - IntronicSNV - 1/9
16-28569764-G-C SGF29 c.-16+4346G>C - intron_variant - 1/9
16-28494823-A-G CLN3 c.790+504T>C - IntronicSNV - 9/14
6-153357964-T-G RGS17 c.119+7071A>C - IntronicSNV - 2/4
16-53794469-G-T FTO c.46-49583G>T - IntronicSNV - 1/8
14-61891927-A-G PRKCH c.428-17902A>G - IntronicSNV - 2/13
2-216300185-C-T FN1 c.148+193G>A - IntronicSNV - 1/43
5-64274571-G-A CWC27 c.1256+1506G>A - IntronicSNV - 13/13
5-64274571-G-T CWC27 c.1256+1506G>T - IntronicSNV - 13/13
X-38076034-C-T SRPX c.97+3915G>A - IntronicSNV - 1/9
14-57072338-C-A TMEM260 c.573C>A p.His191Gln Missense 5/16 -
16-84857345-A-G CRISPLD2 c.-75+3606A>G - intron_variant - 1/14
16-28893571-T-C ATP2A1 c.325-201T>C - IntronicSNV - 4/22
16-53799977-T-C FTO c.46-44075T>C - IntronicSNV - 1/8
20-45546172-A-G EYA2 c.-11+22546A>G - intron_variant - 1/15
X-38134296-G-A RPGR c.2149+46C>T - IntronicSNV - 17/18
14-61892191-A-G PRKCH c.428-17638A>G - IntronicSNV - 2/13
1-186040062-G-A HMCN1 c.8139+173G>A - IntronicSNV - 52/106
14-61893963-T-G PRKCH c.428-15866T>G - IntronicSNV - 2/13
1-25889632-T-A LDLRAP1 c.604T>A p.Ser202Thr Missense 6/9 -
1-192612394-A-C RGS13 c.1-1071A>C - IntronicSNV - 3/6
14-61889807-T-C PRKCH c.428-20022T>C - IntronicSNV - 2/13
16-25913837-A-C HS3ST4 c.734+209365A>C - IntronicSNV - 1/1
7-73470782-C-T ELN c.1315+17C>T - IntronicSNV - 20/32
16-28845251-G-A ATXN2L c.2026-135G>A - IntronicSNV - 15/21
1-25893243-G-A LDLRAP1 c.783-96G>A - IntronicSNV - 8/8
X-38011836-T-C SRPX c.1211+1879A>G - IntronicSNV - 9/9
1-186037769-G-A HMCN1 c.7879+630G>A - IntronicSNV - 50/106
16-28595700-A-G SGF29 c.76-534A>G - IntronicSNV - 2/9
1-186077463-A-T HMCN1 c.10853-130A>T - IntronicSNV - 70/106
5-64254232-T-A CWC27 c.1043-13298T>A - IntronicSNV - 11/13
16-28512371-A-C IL27 c.462+926T>G - IntronicSNV - 4/4
14-61897526-G-A PRKCH c.428-12303G>A - IntronicSNV - 2/13
14-61897526-G-T PRKCH c.428-12303G>T - IntronicSNV - 2/13
1-186063143-A-T HMCN1 c.10197-265A>T - IntronicSNV - 66/106
14-61869241-G-A PRKCH c.427+11235G>A - IntronicSNV - 2/13
16-53821690-A-G FTO c.46-22362A>G - IntronicSNV - 1/8
1-186038467-C-A HMCN1 c.7880-328C>A - IntronicSNV - 50/106
1-186038467-C-T HMCN1 c.7880-328C>T - IntronicSNV - 50/106
5-127871750-C-T FBN2 c.337+345G>A - IntronicSNV - 2/64
5-64282379-C-T CWC27 c.1256+9314C>T - IntronicSNV - 13/13
1-186087544-G-C HMCN1 c.11849-779G>C - IntronicSNV - 77/106
20-45543619-T-G EYA2 c.-11+19993T>G - intron_variant - 1/15
16-28566158-G-T SGF29 c.-16+740G>T - intron_variant - 1/9
6-116502011-T-A NT5DC1 c.530-40206T>A - IntronicSNV - 6/11
20-45551469-A-G EYA2 c.-11+27843A>G - intron_variant - 1/15
10-28453677-T-A MPP7 c.157-14689A>T - IntronicSNV - 5/18
16-53810686-T-C FTO c.46-33366T>C - IntronicSNV - 1/8
14-61892767-A-G PRKCH c.428-17062A>G - IntronicSNV - 2/13
14-61887202-T-A PRKCH c.428-22627T>A - IntronicSNV - 2/13
16-53813450-A-T FTO c.46-30602A>T - IntronicSNV - 1/8
6-116482947-G-A NT5DC1 c.529+43839G>A - IntronicSNV - 6/11
16-28915527-G-T ATP2A1 c.*64G>T - 3_prime_UTR_variant 23/23 -
16-28846866-G-A ATXN2L c.2686-4G>A - IntronicSNV - 20/21
16-28915527-G-A ATP2A1 c.*64G>A - 3_prime_UTR_variant 23/23 -
3-27433163-T-C SLC4A7 c.3159+68A>G - IntronicSNV - 21/24
1-25891971-C-G LDLRAP1 c.782+273C>G - IntronicSNV - 8/8
1-10814938-C-G CASZ1 c.-77+5820G>C - intron_variant - 2/15
7-100962692-T-C IFT22 c.40-379A>G - IntronicSNV - 1/4
1-186044237-G-A HMCN1 c.8290+214G>A - IntronicSNV - 53/106
16-53823718-G-A FTO c.46-20334G>A - IntronicSNV - 1/8
16-53823718-G-C FTO c.46-20334G>C - IntronicSNV - 1/8
14-57107856-G-A TMEM260 c.1869+4540G>A - IntronicSNV - 15/15
6-116505795-G-A NT5DC1 c.530-36422G>A - IntronicSNV - 6/11
1-186151493-C-T HMCN1 c.16414+74C>T - IntronicSNV - 105/106
20-45543036-A-G EYA2 c.-11+19410A>G - intron_variant - 1/15
16-28495752-C-T CLN3 c.678-313G>A - IntronicSNV - 8/14
10-28453225-T-C MPP7 c.157-14237A>G - IntronicSNV - 5/18
6-37619161-A-G MDGA1 c.1312+626T>C - IntronicSNV - 7/16
5-64270320-G-A CWC27 c.1153-2642G>A - IntronicSNV - 12/13
5-64270320-G-C CWC27 c.1153-2642G>C - IntronicSNV - 12/13
16-28875482-A-G SH2B1 c.1-1934A>G - 5-UTRSNV 1/9 -
16-53826028-T-A FTO c.46-18024T>A - IntronicSNV - 1/8
1-186136572-T-C HMCN1 c.15574+498T>C - IntronicSNV - 100/106
3-59800539-T-G FHIT c.349-62492A>C - IntronicSNV - 8/9
1-25889422-C-A LDLRAP1 c.533-139C>A - IntronicSNV - 5/8
10-28450599-T-G MPP7 c.157-11611A>C - IntronicSNV - 5/18
16-28922743-A-T RABEP2 c.895-243T>A - IntronicSNV - 5/12
1-25887525-G-A LDLRAP1 c.460-1610G>A - IntronicSNV - 4/8
16-28847149-G-C ATXN2L c.2895+70G>C - IntronicSNV - 21/21
3-179408054-C-T USP13 c.320C>T p.Ala107Val Missense 3/21 -
1-186151493-C-G HMCN1 c.16414+74C>G - IntronicSNV - 105/106
14-57067695-C-A TMEM260 c.345-2838C>A - IntronicSNV - 3/15
4-17520776-G-A CLRN2 c.253+3634G>A - IntronicSNV - 1/2
7-73443015-G-A ELN c.82+416G>A - IntronicSNV - 1/32
14-57058948-G-A TMEM260 c.344+6318G>A - IntronicSNV - 3/15
16-28603655-T-G SULT1A2 c.704A>C p.Asn235Thr Missense 7/8 -
X-38042226-A-T SRPX c.98-4629T>A - IntronicSNV - 1/9
5-64254232-T-C CWC27 c.1043-13298T>C - IntronicSNV - 11/13
X-38042226-A-G SRPX c.98-4629T>C - IntronicSNV - 1/9
7-73470714-G-A ELN c.1264G>A p.Gly422Ser Missense 20/33 -
16-28489346-T-C CLN3 c.1057-148A>G - IntronicSNV - 13/14
1-186063863-T-C HMCN1 c.10294+358T>C - IntronicSNV - 67/106
20-45545183-A-G EYA2 c.-11+21557A>G - intron_variant - 1/15
1-186042623-C-T HMCN1 c.8140-1250C>T - IntronicSNV - 52/106
16-28922149-C-T RABEP2 c.1089+60G>A - IntronicSNV - 7/12
16-15927591-C-A MYH11 c.345+4174G>T - IntronicSNV - 2/42
6-116475557-T-G NT5DC1 c.529+36449T>G - IntronicSNV - 6/11
16-28494421-A-G CLN3 c.791-428T>C - IntronicSNV - 9/14
16-28570005-C-T SGF29 c.-16+4587C>T - intron_variant - 1/9
7-73469169-C-T ELN c.1150+70C>T - IntronicSNV - 19/32
5-64248900-A-G CWC27 c.1043-18630A>G - IntronicSNV - 11/13
20-45549765-G-A EYA2 c.-11+26139G>A - intron_variant - 1/15
16-28853996-A-C TUFM c.*300T>G - 3-UTRSNV 10/10 -
5-64249786-T-C CWC27 c.1043-17744T>C - IntronicSNV - 11/13
14-61884632-T-C PRKCH c.428-25197T>C - IntronicSNV - 2/13
12-32948216-C-T PKP2 c.2489+827G>A - IntronicSNV - 12/13
9-113676086-T-C LPAR1 c.793+27615A>G - IntronicSNV - 4/4
16-28565489-G-T SGF29 c.-16+71G>T - intron_variant - 1/9
14-57068795-A-G TMEM260 c.345-1738A>G - IntronicSNV - 3/15
1-25890189-A-G LDLRAP1 c.654A>G p.Thr218Thr Synonymous 7/9 -
1-186119056-T-C HMCN1 c.14609-1276T>C - IntronicSNV - 93/106
10-15115515-C-T OLAH c.*287C>T - 3-UTRSNV 9/9 -
14-61883685-G-C PRKCH c.427+25679G>C - IntronicSNV - 2/13
9-139945363-G-A ENTPD2 c.765C>T p.Ser255Ser Synonymous 5/9 -
2-216294957-C-G FN1 c.685+481G>C - IntronicSNV - 5/43
12-109725688-G-A FOXN4 c.429C>T p.Ala143Ala Synonymous 5/10 -
14-61869482-A-C PRKCH c.427+11476A>C - IntronicSNV - 2/13
6-153397729-G-A RGS17 c.1-32576C>T - IntronicSNV - 1/4
1-186071053-T-G HMCN1 c.10574-1551T>G - IntronicSNV - 68/106
16-28837515-T-G ATXN2L c.466-46T>G - IntronicSNV - 4/21
16-28837515-T-C ATXN2L c.466-46T>C - IntronicSNV - 4/21
1-186071053-T-A HMCN1 c.10574-1551T>A - IntronicSNV - 68/106
1-186073181-C-A HMCN1 c.10770+381C>A - IntronicSNV - 69/106
16-28883841-C-A SH2B1 c.1726-14C>A - IntronicSNV - 6/8
1-186132451-G-C HMCN1 c.15257-1792G>C - IntronicSNV - 97/106
7-73445114-T-C ELN c.82+2515T>C - IntronicSNV - 1/32
9-139946327-C-T ENTPD2 c.236-215G>A - IntronicSNV - 2/8
5-64257700-A-G CWC27 c.1043-9830A>G - IntronicSNV - 11/13
9-139943112-A-G ENTPD2 c.1485T>C p.Ile495Ile Synonymous 9/9 -
16-53819937-A-T FTO c.46-24115A>T - IntronicSNV - 1/8
1-186065216-C-T HMCN1 c.10573+563C>T - IntronicSNV - 68/106
1-186065216-C-G HMCN1 c.10573+563C>G - IntronicSNV - 68/106
16-58707132-C-A SLC38A7 c.884-985G>T - IntronicSNV - 8/11
6-116452203-T-G NT5DC1 c.529+13095T>G - IntronicSNV - 6/11
16-28896015-C-G ATP2A1 c.544+39C>G - IntronicSNV - 6/22
1-186126099-A-G HMCN1 c.15256+2980A>G - IntronicSNV - 97/106
7-33584427-C-T BBS9 c.2416+10639C>T - IntronicSNV - 20/21
1-186064858-A-C HMCN1 c.10573+205A>C - IntronicSNV - 68/106
16-53822440-G-A FTO c.46-21612G>A - IntronicSNV - 1/8
10-28455529-T-C MPP7 c.157-16541A>G - IntronicSNV - 5/18
1-186082632-G-A HMCN1 c.11132-479G>A - IntronicSNV - 72/106
1-25892298-G-T LDLRAP1 c.782+600G>T - IntronicSNV - 8/8
16-28844284-A-G ATXN2L c.1659+76A>G - IntronicSNV - 13/21
16-28608230-G-A SULT1A2 c.-5+88C>T - intron_variant - 1/7
14-57068660-T-A TMEM260 c.345-1873T>A - IntronicSNV - 3/15
3-59797584-G-C FHIT c.349-59537C>G - IntronicSNV - 8/9
2-115576519-A-G DPP10 c.60+376104A>G - IntronicSNV - 1/25
16-28933468-C-T RABEP2 c.275-2204G>A - IntronicSNV - 2/12
5-64276536-G-A CWC27 c.1256+3471G>A - IntronicSNV - 13/13
14-57067875-C-T TMEM260 c.345-2658C>T - IntronicSNV - 3/15
1-186053440-A-G HMCN1 c.8884+1347A>G - IntronicSNV - 57/106
16-53798319-G-A FTO c.46-45733G>A - IntronicSNV - 1/8
16-28837203-T-G ATXN2L c.465+41T>G - IntronicSNV - 4/21
1-160009121-A-C KCNJ10 c.*2062T>G - 3-UTRSNV 2/2 -
1-186083534-C-T HMCN1 c.11276+279C>T - IntronicSNV - 73/106
1-25892298-G-C LDLRAP1 c.782+600G>C - IntronicSNV - 8/8
16-53822387-C-T FTO c.46-21665C>T - IntronicSNV - 1/8
5-64241943-G-A CWC27 c.1043-25587G>A - IntronicSNV - 11/13
6-116478187-C-G NT5DC1 c.529+39079C>G - IntronicSNV - 6/11
16-28843025-C-T ATXN2L c.1322-501C>T - IntronicSNV - 10/21
14-57061182-A-G TMEM260 c.344+8552A>G - IntronicSNV - 3/15
6-116501503-G-A NT5DC1 c.530-40714G>A - IntronicSNV - 6/11
1-186034964-C-A HMCN1 c.7705+403C>A - IntronicSNV - 49/106
11-34332090-C-T ABTB2 c.883+46158G>A - IntronicSNV - 1/16
6-116469584-A-G NT5DC1 c.529+30476A>G - IntronicSNV - 6/11
1-186064868-A-G HMCN1 c.10573+215A>G - IntronicSNV - 68/106
14-57046606-T-A TMEM260 c.1-27T>A - 5-UTRSNV 1/16 -
6-116501983-G-A NT5DC1 c.530-40234G>A - IntronicSNV - 6/11
5-64282492-A-G CWC27 c.1256+9427A>G - IntronicSNV - 13/13
5-64267234-G-A CWC27 c.1043-296G>A - IntronicSNV - 11/13
20-45553964-C-T EYA2 c.-11+30338C>T - intron_variant - 1/15
20-45553964-C-G EYA2 c.-11+30338C>G - intron_variant - 1/15
1-25893221-G-C LDLRAP1 c.783-118G>C - IntronicSNV - 8/8
16-28603342-A-G SULT1A2 c.*7T>C - 3-UTRSNV 8/8 -
16-28898793-T-C ATP2A1 c.678T>C p.Thr226Thr Synonymous 8/23 -
16-53821297-T-C FTO c.46-22755T>C - IntronicSNV - 1/8
3-27417601-T-C SLC4A7 c.*654A>G - 3-UTRSNV 25/25 -
16-53827179-C-G FTO c.46-16873C>G - IntronicSNV - 1/8
14-57072643-A-C TMEM260 c.636+242A>C - IntronicSNV - 5/15
5-64285227-C-A CWC27 c.1256+12162C>A - IntronicSNV - 13/13
1-25891971-C-T LDLRAP1 c.782+273C>T - IntronicSNV - 8/8
16-28881202-A-C SH2B1 c.1309+498A>C - IntronicSNV - 4/8
14-61888980-T-C PRKCH c.428-20849T>C - IntronicSNV - 2/13
16-53822239-A-G FTO c.46-21813A>G - IntronicSNV - 1/8
16-28588395-A-C SGF29 c.1-3996A>C - IntronicSNV - 1/9
X-38017492-A-T SRPX c.956-1210T>A - IntronicSNV - 7/9
1-186046748-G-A HMCN1 c.8486-491G>A - IntronicSNV - 54/106
14-61896497-T-A PRKCH c.428-13332T>A - IntronicSNV - 2/13
X-38034006-T-G SRPX c.158-402A>C - IntronicSNV - 2/9
16-53819893-A-G FTO c.46-24159A>G - IntronicSNV - 1/8
16-28603335-T-G SULT1A2 c.*14A>C - 3-UTRSNV 8/8 -
16-28603335-T-C SULT1A2 c.*14A>G - 3-UTRSNV 8/8 -
6-16335197-A-C ATXN1 c.1-6656T>G - IntronicSNV - 6/8
16-53822239-A-T FTO c.46-21813A>T - IntronicSNV - 1/8
14-61892967-T-C PRKCH c.428-16862T>C - IntronicSNV - 2/13
5-64246017-C-G CWC27 c.1043-21513C>G - IntronicSNV - 11/13
1-186141301-G-A HMCN1 c.15814+38G>A - IntronicSNV - 102/106
16-28837906-A-G ATXN2L c.616+195A>G - IntronicSNV - 5/21
16-53820813-A-G FTO c.46-23239A>G - IntronicSNV - 1/8
16-28890131-C-A ATP2A1 c.118+21C>A - IntronicSNV - 1/22
16-53821413-T-C FTO c.46-22639T>C - IntronicSNV - 1/8
3-27440096-A-G SLC4A7 c.2401-252T>C - IntronicSNV - 16/24
16-28593597-G-A SGF29 c.75+1132G>A - IntronicSNV - 2/9
1-25893221-G-T LDLRAP1 c.783-118G>T - IntronicSNV - 8/8
1-10814938-C-T CASZ1 c.-77+5820G>A - intron_variant - 2/15
14-61886406-A-G PRKCH c.428-23423A>G - IntronicSNV - 2/13
1-186140907-A-G HMCN1 c.15689-231A>G - IntronicSNV - 101/106
5-64284810-A-G CWC27 c.1256+11745A>G - IntronicSNV - 13/13
1-186039428-G-A HMCN1 c.7994-316G>A - IntronicSNV - 51/106
10-28415164-A-C MPP7 c.448-1144T>G - IntronicSNV - 8/18
16-53820503-G-A FTO c.46-23549G>A - IntronicSNV - 1/8
16-28581038-G-C SGF29 c.1-11353G>C - IntronicSNV - 1/9
14-57088506-C-T TMEM260 c.1398+86C>T - IntronicSNV - 11/15
3-59797400-C-A FHIT c.349-59353G>T - IntronicSNV - 8/9
16-28839930-G-T ATXN2L c.742-792G>T - IntronicSNV - 6/21
1-186144104-A-C HMCN1 c.15943+330A>C - IntronicSNV - 103/106
7-73445789-A-G ELN c.82+3190A>G - IntronicSNV - 1/32
16-53800568-G-A FTO c.46-43484G>A - IntronicSNV - 1/8
1-186055177-A-T HMCN1 c.8885-201A>T - IntronicSNV - 57/106
14-61904450-A-C PRKCH c.428-5379A>C - IntronicSNV - 2/13
7-37741892-T-G GPR141 c.-138+16991T>G - intron_variant - 2/3
14-61892815-C-T PRKCH c.428-17014C>T - IntronicSNV - 2/13
6-116495717-G-T NT5DC1 c.530-46500G>T - IntronicSNV - 6/11
16-28545785-A-G NUPR1 c.*3555T>C - IntergenicSNV 3/3 -
1-25894853-G-T LDLRAP1 c.*1370G>T - 3-UTRSNV 9/9 -
16-53839135-T-C FTO c.46-4917T>C - IntronicSNV - 1/8
7-148863090-G-C ZNF398 c.1-253G>C - IntronicSNV 3/7 -
12-32973881-C-T PKP2 c.2145+409G>A - IntronicSNV - 10/13
16-53822502-T-A FTO c.46-21550T>A - IntronicSNV - 1/8
16-84856532-G-T CRISPLD2 c.-75+2793G>T - intron_variant - 1/14
16-28583865-C-T SGF29 c.1-8526C>T - IntronicSNV - 1/9
1-186052962-C-G HMCN1 c.8884+869C>G - IntronicSNV - 57/106
5-64241800-T-A CWC27 c.1043-25730T>A - IntronicSNV - 11/13
5-64241800-T-G CWC27 c.1043-25730T>G - IntronicSNV - 11/13
1-186068248-A-T HMCN1 c.10573+3595A>T - IntronicSNV - 68/106
1-186065539-T-G HMCN1 c.10573+886T>G - IntronicSNV - 68/106
10-28453966-A-T MPP7 c.157-14978T>A - IntronicSNV - 5/18
6-16595948-G-A ATXN1 c.-488-9810C>T - intron_variant - 4/8
1-186142073-A-G HMCN1 c.15814+810A>G - IntronicSNV - 102/106
1-186052962-C-T HMCN1 c.8884+869C>T - IntronicSNV - 57/106
1-186068248-A-G HMCN1 c.10573+3595A>G - IntronicSNV - 68/106
10-28453966-A-C MPP7 c.157-14978T>G - IntronicSNV - 5/18
6-116462083-A-C NT5DC1 c.529+22975A>C - IntronicSNV - 6/11
1-25885592-G-A LDLRAP1 c.459+1834G>A - IntronicSNV - 4/8
14-61893963-T-A PRKCH c.428-15866T>A - IntronicSNV - 2/13
20-45534053-A-G EYA2 c.-11+10427A>G - intron_variant - 1/15
6-116456335-G-A NT5DC1 c.529+17227G>A - IntronicSNV - 6/11
16-53803223-G-A FTO c.46-40829G>A - IntronicSNV - 1/8
14-61876586-G-A PRKCH c.427+18580G>A - IntronicSNV - 2/13
16-28855522-G-C TUFM c.922+29C>G - IntronicSNV - 7/9
16-28922149-C-G RABEP2 c.1089+60G>C - IntronicSNV - 7/12
16-28490517-T-C CLN3 c.1057-1319A>G - IntronicSNV - 13/14
7-100960495-C-G IFT22 c.207-672G>C - IntronicSNV - 3/4
1-186054055-A-G HMCN1 c.8885-1323A>G - IntronicSNV - 57/106
12-109722703-G-A FOXN4 c.901+406C>T - IntronicSNV - 8/9
12-109722703-G-C FOXN4 c.901+406C>G - IntronicSNV - 8/9
6-133601845-A-G EYA4 c.33+5894A>G - IntronicSNV - 2/19
6-133601845-A-C EYA4 c.33+5894A>C - IntronicSNV - 2/19
7-73473494-T-C ELN c.1415-722T>C - IntronicSNV - 22/32
14-61882851-A-G PRKCH c.427+24845A>G - IntronicSNV - 2/13
1-186149017-G-A HMCN1 c.16294+1119G>A - IntronicSNV - 104/106
1-25889632-T-G LDLRAP1 c.604T>G p.Ser202Ala Missense 6/9 -
1-25889632-T-C LDLRAP1 c.604T>C p.Ser202Pro Missense 6/9 -
20-45543676-C-T EYA2 c.-11+20050C>T - intron_variant - 1/15
14-61888971-A-G PRKCH c.428-20858A>G - IntronicSNV - 2/13
7-100960495-C-A IFT22 c.207-672G>T - IntronicSNV - 3/4
7-100960495-C-T IFT22 c.207-672G>A - IntronicSNV - 3/4
1-186050417-A-G HMCN1 c.8678A>G p.Glu2893Gly Missense 56/107 -
X-38074017-G-A SRPX c.97+5932C>T - IntronicSNV - 1/9
6-133598239-G-A EYA4 c.33+2288G>A - IntronicSNV - 2/19
12-109722703-G-T FOXN4 c.901+406C>A - IntronicSNV - 8/9
1-186093558-T-G HMCN1 c.12500-1178T>G - IntronicSNV - 81/106
1-186067895-A-G HMCN1 c.10573+3242A>G - IntronicSNV - 68/106
1-186133290-C-A HMCN1 c.15257-953C>A - IntronicSNV - 97/106
5-64283761-G-T CWC27 c.1256+10696G>T - IntronicSNV - 13/13
16-28855522-G-A TUFM c.922+29C>T - IntronicSNV - 7/9
6-116464568-T-G NT5DC1 c.529+25460T>G - IntronicSNV - 6/11
16-53826028-T-C FTO c.46-18024T>C - IntronicSNV - 1/8
1-186065382-C-T HMCN1 c.10573+729C>T - IntronicSNV - 68/106
9-113678725-A-T LPAR1 c.793+24976T>A - IntronicSNV - 4/4
16-28847246-T-C ATXN2L c.2896-8T>C - IntronicSNV - 21/21
14-57077226-C-T TMEM260 c.816+1223C>T - IntronicSNV - 6/15
X-38017271-A-G SRPX c.956-989T>C - IntronicSNV - 7/9
16-28565489-G-A SGF29 c.-16+71G>A - intron_variant - 1/9
16-53821125-A-G FTO c.46-22927A>G - IntronicSNV - 1/8
1-186036398-T-C HMCN1 c.7706-568T>C - IntronicSNV - 49/106
1-25891959-G-A LDLRAP1 c.782+261G>A - IntronicSNV - 8/8
16-28846840-T-G ATXN2L c.2686-30T>G - IntronicSNV - 20/21
9-113676759-A-C LPAR1 c.793+26942T>G - IntronicSNV - 4/4
9-113676759-A-G LPAR1 c.793+26942T>C - IntronicSNV - 4/4
16-53821125-A-T FTO c.46-22927A>T - IntronicSNV - 1/8
16-53819771-G-A FTO c.46-24281G>A - IntronicSNV - 1/8
14-61885825-G-C PRKCH c.428-24004G>C - IntronicSNV - 2/13
14-61885825-G-A PRKCH c.428-24004G>A - IntronicSNV - 2/13
16-28854769-A-G TUFM c.1194+288T>C - IntronicSNV - 9/9
16-53818724-G-A FTO c.46-25328G>A - IntronicSNV - 1/8
20-45541630-C-T EYA2 c.-11+18004C>T - intron_variant - 1/15
10-15100883-C-A OLAH c.322+1902C>A - IntronicSNV - 4/8
3-27440096-A-C SLC4A7 c.2401-252T>G - IntronicSNV - 16/24
1-186067296-A-C HMCN1 c.10573+2643A>C - IntronicSNV - 68/106
16-28844365-G-A ATXN2L c.1660-15G>A - IntronicSNV - 13/21
20-45554374-G-A EYA2 c.-11+30748G>A - intron_variant - 1/15
16-28565667-C-A SGF29 c.-16+249C>A - intron_variant - 1/9
20-45548456-A-G EYA2 c.-11+24830A>G - intron_variant - 1/15
16-28494350-A-G CLN3 c.791-357T>C - IntronicSNV - 9/14
16-28494350-A-C CLN3 c.791-357T>G - IntronicSNV - 9/14
16-28494350-A-T CLN3 c.791-357T>A - IntronicSNV - 9/14
16-53800754-G-A FTO c.46-43298G>A - IntronicSNV - 1/8
16-28565667-C-G SGF29 c.-16+249C>G - intron_variant - 1/9
16-28590030-G-A SGF29 c.1-2361G>A - IntronicSNV - 1/9
16-28590030-G-T SGF29 c.1-2361G>T - IntronicSNV - 1/9
10-15100883-C-G OLAH c.322+1902C>G - IntronicSNV - 4/8
16-28605915-T-A SULT1A2 c.372+773A>T - IntronicSNV - 4/7
16-28605915-T-G SULT1A2 c.372+773A>C - IntronicSNV - 4/7
14-57068241-A-G TMEM260 c.345-2292A>G - IntronicSNV - 3/15
3-85884150-A-G CADM2 c.217+32804A>G - IntronicSNV - 2/9
16-53807764-A-C FTO c.46-36288A>C - IntronicSNV - 1/8
2-216287796-C-G FN1 c.1393+277G>C - IntronicSNV - 9/43
16-53807764-A-G FTO c.46-36288A>G - IntronicSNV - 1/8
1-186086578-G-T HMCN1 c.11684-13G>T - IntronicSNV - 76/106
14-61877064-T-G PRKCH c.427+19058T>G - IntronicSNV - 2/13
16-53820066-T-C FTO c.46-23986T>C - IntronicSNV - 1/8
14-61893944-A-G PRKCH c.428-15885A>G - IntronicSNV - 2/13
16-53800272-T-G FTO c.46-43780T>G - IntronicSNV - 1/8
16-53800272-T-A FTO c.46-43780T>A - IntronicSNV - 1/8
16-53800272-T-C FTO c.46-43780T>C - IntronicSNV - 1/8
16-25913837-A-G HS3ST4 c.734+209365A>G - IntronicSNV - 1/1
1-186069140-C-T HMCN1 c.10574-3464C>T - IntronicSNV - 68/106
1-186086578-G-A HMCN1 c.11684-13G>A - IntronicSNV - 76/106
3-27436776-T-C SLC4A7 c.2677-170A>G - IntronicSNV - 18/24
3-27436776-T-A SLC4A7 c.2677-170A>T - IntronicSNV - 18/24
16-28607532-G-A SULT1A2 c.1-281C>T - IntronicSNV - 1/7
16-28607532-G-T SULT1A2 c.1-281C>A - IntronicSNV - 1/7
16-53812433-T-C FTO c.46-31619T>C - IntronicSNV - 1/8
16-53816752-A-G FTO c.46-27300A>G - IntronicSNV - 1/8
16-53801549-C-T FTO c.46-42503C>T - IntronicSNV - 1/8
5-64260661-A-G CWC27 c.1043-6869A>G - IntronicSNV - 11/13
16-28600091-C-T SGF29 c.225-330C>T - IntronicSNV - 4/9
16-53816838-G-A FTO c.46-27214G>A - IntronicSNV - 1/8
16-28893532-A-G ATP2A1 c.325-240A>G - IntronicSNV - 4/22
6-116478187-C-T NT5DC1 c.529+39079C>T - IntronicSNV - 6/11
15-30112896-G-C TJP1 c.27+1309C>G - IntronicSNV - 1/27
15-30112896-G-A TJP1 c.27+1309C>T - IntronicSNV - 1/27
14-61874821-G-A PRKCH c.427+16815G>A - IntronicSNV - 2/13
6-116464568-T-C NT5DC1 c.529+25460T>C - IntronicSNV - 6/11
5-64279481-C-T CWC27 c.1256+6416C>T - IntronicSNV - 13/13
1-186074918-A-G HMCN1 c.10771-1098A>G - IntronicSNV - 69/106
5-64284524-G-T CWC27 c.1256+11459G>T - IntronicSNV - 13/13
16-28841777-C-T ATXN2L c.1035-159C>T - IntronicSNV - 8/21
3-27433360-G-A SLC4A7 c.3091-61C>T - IntronicSNV - 20/24
1-186074918-A-T HMCN1 c.10771-1098A>T - IntronicSNV - 69/106
20-45528050-C-A EYA2 c.-11+4424C>A - intron_variant - 1/15
6-116470561-A-G NT5DC1 c.529+31453A>G - IntronicSNV - 6/11
5-64284524-G-A CWC27 c.1256+11459G>A - IntronicSNV - 13/13
5-64284524-G-C CWC27 c.1256+11459G>C - IntronicSNV - 13/13
14-57060949-T-C TMEM260 c.344+8319T>C - IntronicSNV - 3/15
6-36301553-C-A C6orf222 c.-5+2936G>T - intron_variant - 1/11
16-53825488-C-T FTO c.46-18564C>T - IntronicSNV - 1/8
14-61890595-T-C PRKCH c.428-19234T>C - IntronicSNV - 2/13
12-32980382-A-T PKP2 c.1689-3286T>A - IntronicSNV - 7/13
16-28836205-T-C ATXN2L c.300-482T>C - IntronicSNV - 1/21
1-192609256-A-T RGS13 c.-5+1923A>T - intron_variant - 3/6
10-28453677-T-C MPP7 c.157-14689A>G - IntronicSNV - 5/18
16-53799847-G-A FTO c.46-44205G>A - IntronicSNV - 1/8
1-186143082-T-C HMCN1 c.15815-564T>C - IntronicSNV - 102/106
1-25889422-C-T LDLRAP1 c.533-139C>T - IntronicSNV - 5/8
14-61885440-G-A PRKCH c.428-24389G>A - IntronicSNV - 2/13
16-53824226-A-G FTO c.46-19826A>G - IntronicSNV - 1/8
20-45552078-C-A EYA2 c.-11+28452C>A - intron_variant - 1/15
16-28915217-G-A ATP2A1 c.*192G>A - IntronicSNV - 22/22
16-53799507-G-A FTO c.46-44545G>A - IntronicSNV - 1/8
1-186068597-A-G HMCN1 c.10573+3944A>G - IntronicSNV - 68/106
5-64287460-G-A CWC27 c.1256+14395G>A - IntronicSNV - 13/13
5-127873605-T-C FBN2 c.1-309A>G - 5-UTRSNV 1/65 -
16-84857244-A-G CRISPLD2 c.-75+3505A>G - intron_variant - 1/14
1-25890050-A-G LDLRAP1 c.617-102A>G - IntronicSNV - 6/8
X-38047308-G-A SRPX c.98-9711C>T - IntronicSNV - 1/9
X-38047308-G-T SRPX c.98-9711C>A - IntronicSNV - 1/9
16-53799296-C-T FTO c.46-44756C>T - IntronicSNV - 1/8
2-216292331-G-T FN1 c.844+572C>A - IntronicSNV - 6/43
14-61890825-A-G PRKCH c.428-19004A>G - IntronicSNV - 2/13
14-61890825-A-T PRKCH c.428-19004A>T - IntronicSNV - 2/13
16-28882424-T-C SH2B1 c.1310-677T>C - IntronicSNV - 4/8
1-186059551-A-G HMCN1 c.9728-339A>G - IntronicSNV - 63/106
X-38064927-T-C SRPX c.97+15022A>G - IntronicSNV - 1/9
12-109737079-T-C FOXN4 c.86+8962A>G - IntronicSNV - 2/9
14-61884646-A-G PRKCH c.428-25183A>G - IntronicSNV - 2/13
1-186037949-C-T HMCN1 c.7879+810C>T - IntronicSNV - 50/106
1-186037949-C-A HMCN1 c.7879+810C>A - IntronicSNV - 50/106
2-115570313-C-T DPP10 c.60+369898C>T - IntronicSNV - 1/25
11-41468936-T-C LRRC4C c.-327+12045A>G - intron_variant - 1/4
1-186141836-G-T HMCN1 c.15814+573G>T - IntronicSNV - 102/106
20-45551790-T-A EYA2 c.-11+28164T>A - intron_variant - 1/15
16-53819877-C-T FTO c.46-24175C>T - IntronicSNV - 1/8
10-28452867-T-C MPP7 c.157-13879A>G - IntronicSNV - 5/18
6-133596313-G-A EYA4 c.33+362G>A - IntronicSNV - 2/19
16-53825905-G-T FTO c.46-18147G>T - IntronicSNV - 1/8
5-64259577-C-G CWC27 c.1043-7953C>G - IntronicSNV - 11/13
8-126346977-G-A NSMCE2 c.419-22484G>A - IntronicSNV - 5/7
16-28582941-C-A SGF29 c.1-9450C>A - IntronicSNV - 1/9
16-28582941-C-T SGF29 c.1-9450C>T - IntronicSNV - 1/9
5-64270823-G-T CWC27 c.1153-2139G>T - IntronicSNV - 12/13
16-53839135-T-G FTO c.46-4917T>G - IntronicSNV - 1/8
16-53799303-C-T FTO c.46-44749C>T - IntronicSNV - 1/8
5-64240738-T-C CWC27 c.1043-26792T>C - IntronicSNV - 11/13
16-28585636-C-T SGF29 c.1-6755C>T - IntronicSNV - 1/9
16-28513403-A-G IL27 c.356T>C p.Leu119Pro Missense 4/5 -
3-171894947-A-G FNDC3B c.187+43611A>G - IntronicSNV - 3/25
2-216295014-A-G FN1 c.685+424T>C - IntronicSNV - 5/43
1-186070902-A-G HMCN1 c.10574-1702A>G - IntronicSNV - 68/106
14-57087118-A-G TMEM260 c.1227-1131A>G - IntronicSNV - 10/15
14-57087118-A-C TMEM260 c.1227-1131A>C - IntronicSNV - 10/15
10-28415164-A-T MPP7 c.448-1144T>A - IntronicSNV - 8/18
4-17522948-C-T CLRN2 c.254-1539C>T - IntronicSNV - 1/2
5-64259577-C-T CWC27 c.1043-7953C>T - IntronicSNV - 11/13
1-186045280-C-A HMCN1 c.8291-280C>A - IntronicSNV - 53/106
16-28588049-A-C SGF29 c.1-4342A>C - IntronicSNV - 1/9
9-113674955-A-G LPAR1 c.793+28746T>C - IntronicSNV - 4/4
16-53818834-A-G FTO c.46-25218A>G - IntronicSNV - 1/8
14-61898580-T-G PRKCH c.428-11249T>G - IntronicSNV - 2/13
16-28608341-T-C SULT1A2 c.-28A>G - 5_prime_UTR_variant 1/8 -
16-28893409-T-C ATP2A1 c.325-363T>C - IntronicSNV - 4/22
16-58707628-G-A SLC38A7 c.884-1481C>T - IntronicSNV - 8/11
16-28921809-T-C RABEP2 c.1089+400A>G - IntronicSNV - 7/12
9-101218552-A-C GABBR2 c.1000-2053T>G - IntronicSNV - 6/18
9-113675287-T-C LPAR1 c.793+28414A>G - IntronicSNV - 4/4
16-53798622-G-T FTO c.46-45430G>T - IntronicSNV - 1/8
20-45555644-C-T EYA2 c.-11+32018C>T - intron_variant - 1/15
16-28922743-A-C RABEP2 c.895-243T>G - IntronicSNV - 5/12
1-186127510-G-T HMCN1 c.15256+4391G>T - IntronicSNV - 97/106
16-28922743-A-G RABEP2 c.895-243T>C - IntronicSNV - 5/12
1-186101964-C-T HMCN1 c.13312+423C>T - IntronicSNV - 86/106
1-186040062-G-C HMCN1 c.8139+173G>C - IntronicSNV - 52/106
16-53800629-C-G FTO c.46-43423C>G - IntronicSNV - 1/8
1-186064781-A-T HMCN1 c.10573+128A>T - IntronicSNV - 68/106
1-186064781-A-C HMCN1 c.10573+128A>C - IntronicSNV - 68/106
1-25889917-T-A LDLRAP1 c.617-235T>A - IntronicSNV - 6/8
16-28517709-T-C IL27 c.31+393A>G - IntronicSNV - 1/4
1-25889917-T-C LDLRAP1 c.617-235T>C - IntronicSNV - 6/8
16-28513530-C-T IL27 c.304-75G>A - IntronicSNV - 3/4
X-38069249-C-T SRPX c.97+10700G>A - IntronicSNV - 1/9
16-15930250-G-A MYH11 c.345+1515C>T - IntronicSNV - 2/42
2-216295312-T-A FN1 c.685+126A>T - IntronicSNV - 5/43
5-64270797-C-T CWC27 c.1153-2165C>T - IntronicSNV - 12/13
10-28453354-T-C MPP7 c.157-14366A>G - IntronicSNV - 5/18
14-61885857-G-A PRKCH c.428-23972G>A - IntronicSNV - 2/13
16-53793798-T-C FTO c.46-50254T>C - IntronicSNV - 1/8
16-53818167-T-C FTO c.46-25885T>C - IntronicSNV - 1/8
16-53809123-C-T FTO c.46-34929C>T - IntronicSNV - 1/8
20-45551790-T-C EYA2 c.-11+28164T>C - intron_variant - 1/15
16-53815161-T-A FTO c.46-28891T>A - IntronicSNV - 1/8
14-61874374-G-T PRKCH c.427+16368G>T - IntronicSNV - 2/13
16-53799985-T-A FTO c.46-44067T>A - IntronicSNV - 1/8
3-171894947-A-T FNDC3B c.187+43611A>T - IntronicSNV - 3/25
9-101218552-A-G GABBR2 c.1000-2053T>C - IntronicSNV - 6/18
16-53804340-C-T FTO c.46-39712C>T - IntronicSNV - 1/8
10-28452867-T-A MPP7 c.157-13879A>T - IntronicSNV - 5/18
1-186146175-A-T HMCN1 c.15944-1373A>T - IntronicSNV - 103/106
1-186146175-A-G HMCN1 c.15944-1373A>G - IntronicSNV - 103/106
19-50401661-C-T IL4I1 c.80-2351G>A - IntronicSNV - 4/9
1-186135236-G-A HMCN1 c.15320-80G>A - IntronicSNV - 98/106
1-186143052-T-C HMCN1 c.15815-594T>C - IntronicSNV - 102/106
14-61897956-T-C PRKCH c.428-11873T>C - IntronicSNV - 2/13
16-28510845-A-G IL27 c.*127T>C - 3-UTRSNV 5/5 -
20-45551958-C-T EYA2 c.-11+28332C>T - intron_variant - 1/15
16-53806453-A-G FTO c.46-37599A>G - IntronicSNV - 1/8
16-28499291-A-G CLN3 c.295-229T>C - IntronicSNV - 4/14
14-61897956-T-A PRKCH c.428-11873T>A - IntronicSNV - 2/13
16-53822502-T-G FTO c.46-21550T>G - IntronicSNV - 1/8
5-127873605-T-G FBN2 c.1-309A>C - 5-UTRSNV 1/65 -
16-53805207-C-A FTO c.46-38845C>A - IntronicSNV - 1/8
14-57047350-C-G TMEM260 c.160+558C>G - IntronicSNV - 1/15
16-53825905-G-A FTO c.46-18147G>A - IntronicSNV - 1/8
16-28846840-T-A ATXN2L c.2686-30T>A - IntronicSNV - 20/21
16-84856930-T-C CRISPLD2 c.-75+3191T>C - intron_variant - 1/14
1-186061950-G-A HMCN1 c.9888-316G>A - IntronicSNV - 64/106
14-61883589-G-A PRKCH c.427+25583G>A - IntronicSNV - 2/13
6-133578639-C-T EYA4 c.-66+15752C>T - intron_variant - 1/19
16-28891465-C-T ATP2A1 c.219+561C>T - IntronicSNV - 3/22
16-28594549-A-G SGF29 c.76-1685A>G - IntronicSNV - 2/9
3-59797400-C-T FHIT c.349-59353G>A - IntronicSNV - 8/9
16-28883841-C-T SH2B1 c.1726-14C>T - IntronicSNV - 6/8
16-53799985-T-C FTO c.46-44067T>C - IntronicSNV - 1/8
X-38054425-T-C SRPX c.98-16828A>G - IntronicSNV - 1/9
16-53806453-A-T FTO c.46-37599A>T - IntronicSNV - 1/8
1-186061099-G-A HMCN1 c.9887+1050G>A - IntronicSNV - 64/106
1-186061099-G-T HMCN1 c.9887+1050G>T - IntronicSNV - 64/106
7-73470714-G-C ELN c.1264G>C p.Gly422Arg Missense 20/33 -
10-28451289-T-A MPP7 c.157-12301A>T - IntronicSNV - 5/18
1-186075520-C-T HMCN1 c.10771-496C>T - IntronicSNV - 69/106
16-28906084-G-C ATP2A1 c.1288-59G>C - IntronicSNV - 11/22
14-61886264-A-C PRKCH c.428-23565A>C - IntronicSNV - 2/13
12-32980382-A-C PKP2 c.1689-3286T>G - IntronicSNV - 7/13
1-160012406-A-G KCNJ10 c.1-84T>C - IntronicSNV - 1/1
X-38062355-G-A SRPX c.97+17594C>T - IntronicSNV - 1/9
1-186075520-C-G HMCN1 c.10771-496C>G - IntronicSNV - 69/106
16-53822237-A-G FTO c.46-21815A>G - IntronicSNV - 1/8
1-186064868-A-C HMCN1 c.10573+215A>C - IntronicSNV - 68/106
16-53815161-T-G FTO c.46-28891T>G - IntronicSNV - 1/8
10-28451289-T-C MPP7 c.157-12301A>G - IntronicSNV - 5/18
1-186077302-C-A HMCN1 c.10853-291C>A - IntronicSNV - 70/106
16-53839135-T-A FTO c.46-4917T>A - IntronicSNV - 1/8
1-25895238-C-A LDLRAP1 c.*1755C>A - 3-UTRSNV 9/9 -
1-25895238-C-T LDLRAP1 c.*1755C>T - 3-UTRSNV 9/9 -
1-186044847-T-C HMCN1 c.8291-713T>C - IntronicSNV - 53/106
14-61886770-G-A PRKCH c.428-23059G>A - IntronicSNV - 2/13
16-28917644-T-C RABEP2 c.1246-127A>G - IntronicSNV - 8/12
16-28917644-T-A RABEP2 c.1246-127A>T - IntronicSNV - 8/12
16-28917644-T-G RABEP2 c.1246-127A>C - IntronicSNV - 8/12
7-73475775-G-A ELN c.1786+306G>A - IntronicSNV - 26/32
6-116485722-C-T NT5DC1 c.529+46614C>T - IntronicSNV - 6/11
1-186149235-C-A HMCN1 c.16294+1337C>A - IntronicSNV - 104/106
1-186149235-C-T HMCN1 c.16294+1337C>T - IntronicSNV - 104/106
14-57096346-G-A TMEM260 c.1548-3367G>A - IntronicSNV - 12/15
3-27443161-A-G SLC4A7 c.2295-801T>C - IntronicSNV - 15/24
6-116452658-C-A NT5DC1 c.529+13550C>A - IntronicSNV - 6/11
6-37619192-C-T MDGA1 c.1312+595G>A - IntronicSNV - 7/16
1-186051168-A-T HMCN1 c.8787+642A>T - IntronicSNV - 56/106
16-53811788-A-G FTO c.46-32264A>G - IntronicSNV - 1/8
1-223417224-C-T SUSD4 c.725-14494G>A - IntronicSNV - 5/8
1-223417224-C-G SUSD4 c.725-14494G>C - IntronicSNV - 5/8
16-53803156-G-A FTO c.46-40896G>A - IntronicSNV - 1/8
6-153379080-C-T RGS17 c.1-13927G>A - IntronicSNV - 1/4
2-99185867-C-T INPP4A c.2416+736C>T - IntronicSNV - 23/25
14-57072338-C-T TMEM260 c.573C>T p.His191His Synonymous 5/16 -
16-28913787-T-C ATP2A1 c.2524+80T>C - IntronicSNV - 17/22
1-186048208-T-G HMCN1 c.8599+856T>G - IntronicSNV - 55/106
14-57088433-A-T TMEM260 c.1398+13A>T - IntronicSNV - 11/15
2-216294016-C-A FN1 c.686-955G>T - IntronicSNV - 5/43
14-57096346-G-T TMEM260 c.1548-3367G>T - IntronicSNV - 12/15
16-28497059-T-A CLN3 c.677+609A>T - IntronicSNV - 8/14
3-112710194-T-G GTPBP8 c.336+12T>G - IntronicSNV - 1/5
1-186051168-A-G HMCN1 c.8787+642A>G - IntronicSNV - 56/106
5-64275893-C-T CWC27 c.1256+2828C>T - IntronicSNV - 13/13
14-61884022-G-A PRKCH c.428-25807G>A - IntronicSNV - 2/13
5-64275893-C-A CWC27 c.1256+2828C>A - IntronicSNV - 13/13
14-57067724-G-A TMEM260 c.345-2809G>A - IntronicSNV - 3/15
12-32948216-C-A PKP2 c.2489+827G>T - IntronicSNV - 12/13
3-171893547-A-G FNDC3B c.187+42211A>G - IntronicSNV - 3/25
16-28588443-C-T SGF29 c.1-3948C>T - IntronicSNV - 1/9
16-53828066-C-T FTO c.46-15986C>T - IntronicSNV - 1/8
1-186082316-C-G HMCN1 c.11131+231C>G - IntronicSNV - 72/106
1-186082316-C-A HMCN1 c.11131+231C>A - IntronicSNV - 72/106
3-27441221-T-C SLC4A7 c.2400+1034A>G - IntronicSNV - 16/24
16-53798523-G-A FTO c.46-45529G>A - IntronicSNV - 1/8
1-186055177-A-G HMCN1 c.8885-201A>G - IntronicSNV - 57/106
16-28587389-T-C SGF29 c.1-5002T>C - IntronicSNV - 1/9
5-64280231-C-T CWC27 c.1256+7166C>T - IntronicSNV - 13/13
16-28513530-C-G IL27 c.304-75G>C - IntronicSNV - 3/4
1-186077463-A-G HMCN1 c.10853-130A>G - IntronicSNV - 70/106
1-186136289-T-C HMCN1 c.15574+215T>C - IntronicSNV - 100/106
1-186043232-G-T HMCN1 c.8140-641G>T - IntronicSNV - 52/106
16-28854769-A-C TUFM c.1194+288T>G - IntronicSNV - 9/9
2-216296257-G-A FN1 c.547+299C>T - IntronicSNV - 4/43
2-216296257-G-C FN1 c.547+299C>G - IntronicSNV - 4/43
16-53818813-A-G FTO c.46-25239A>G - IntronicSNV - 1/8
16-28580829-C-G SGF29 c.1-11562C>G - IntronicSNV - 1/9
16-28580829-C-T SGF29 c.1-11562C>T - IntronicSNV - 1/9
1-186070778-A-T HMCN1 c.10574-1826A>T - IntronicSNV - 68/106
1-161056455-T-C NECTIN4 c.79+2553A>G - IntronicSNV - 1/8
6-116495717-G-A NT5DC1 c.530-46500G>A - IntronicSNV - 6/11
14-57073551-T-C TMEM260 c.636+1150T>C - IntronicSNV - 5/15
1-186070778-A-G HMCN1 c.10574-1826A>G - IntronicSNV - 68/106
10-15115515-C-G OLAH c.*287C>G - 3-UTRSNV 9/9 -
1-186052962-C-A HMCN1 c.8884+869C>A - IntronicSNV - 57/106
16-15928307-C-G MYH11 c.345+3458G>C - IntronicSNV - 2/42
1-186037691-A-T HMCN1 c.7879+552A>T - IntronicSNV - 50/106
10-28451524-T-A MPP7 c.157-12536A>T - IntronicSNV - 5/18
16-53803187-A-T FTO c.46-40865A>T - IntronicSNV - 1/8
1-186126793-G-A HMCN1 c.15256+3674G>A - IntronicSNV - 97/106
7-73476236-T-C ELN c.1786+767T>C - IntronicSNV - 26/32
16-53821615-A-G FTO c.46-22437A>G - IntronicSNV - 1/8
1-192612394-A-T RGS13 c.1-1071A>T - IntronicSNV - 3/6
14-61885440-G-T PRKCH c.428-24389G>T - IntronicSNV - 2/13
5-169202770-A-T DOCK2 c.2554+14141A>T - IntronicSNV - 25/51
1-186076291-C-T HMCN1 c.10852+194C>T - IntronicSNV - 70/106
6-116464568-T-A NT5DC1 c.529+25460T>A - IntronicSNV - 6/11
5-64275537-T-G CWC27 c.1256+2472T>G - IntronicSNV - 13/13
5-64250923-C-T CWC27 c.1043-16607C>T - IntronicSNV - 11/13
1-186080269-G-C HMCN1 c.10990-1675G>C - IntronicSNV - 71/106
1-186080269-G-T HMCN1 c.10990-1675G>T - IntronicSNV - 71/106
8-126284010-G-C NSMCE2 c.419-85451G>C - IntronicSNV - 5/7
8-126284010-G-A NSMCE2 c.419-85451G>A - IntronicSNV - 5/7
16-53827962-A-G FTO c.46-16090A>G - IntronicSNV - 1/8
2-216292331-G-A FN1 c.844+572C>T - IntronicSNV - 6/43
16-28492510-C-A CLN3 c.1056+916G>T - IntronicSNV - 13/14
16-28492510-C-T CLN3 c.1056+916G>A - IntronicSNV - 13/14
16-53827479-A-G FTO c.46-16573A>G - IntronicSNV - 1/8
14-57089099-C-A TMEM260 c.1398+679C>A - IntronicSNV - 11/15
14-57089099-C-T TMEM260 c.1398+679C>T - IntronicSNV - 11/15
4-103198082-A-G SLC39A8 c.841-8846T>C - IntronicSNV - 5/7
1-186081918-C-T HMCN1 c.10990-26C>T - IntronicSNV - 71/106
14-57066997-T-C TMEM260 c.345-3536T>C - IntronicSNV - 3/15