ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 713
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HGVS dbSNP
COL1A2, EX6DEL
COL1A2, IVS6DS, G-A, -1
COL3A1, GLY373ARG
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
NC_000001.10:g.(?_12020693)_(12027158_?)dup
NC_000001.10:g.(?_12020703)_(12020824_?)del
NC_000001.11:g.(11959822_11959973)_(11968469_11968718)dup
NC_000002.11:g.(?_189839196)_(190445206_?)del
NC_000007.13:g.(?_94024324)_(94025130_?)del
NC_000007.13:g.(?_94024324)_(94028416_?)del
NC_000007.13:g.(?_94037139)_(94037712_?)dup
NC_000007.13:g.(?_94037139)_(94038155_?)dup
NC_000009.11:g.(?_137534024)_(137660319_?)del
NC_000009.11:g.(?_137582738)_(137655603_?)del
NC_000009.11:g.(?_137582748)_(137619253_?)del
NC_000009.11:g.(?_137591735)_(137591988_?)del
NC_000009.11:g.(?_137593017)_(137727050_?)del
NC_000009.11:g.(?_137644415)_(137644511_?)del
NC_000023.10:g.(?_153576900)_(153599729_?)del
NG_007404.1:g.31358_38084del
NG_007404.1:g.32133_36640del
NG_012236.2:g.11027del
NG_023212.2:g.(6563_77264)_(169258_191449)del
NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.3(COL1A1):c.1299+1G>A rs66490707
NM_000088.3(COL1A1):c.1821+1G>A rs66555264
NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642
NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170
NM_000088.3(COL1A1):c.472-1G>A
NM_000088.3(COL1A1):c.472-2A>T
NM_000088.3(COL1A1):c.543G>A (p.Met181Ile) rs72667022
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) rs72645357
NM_000089.3(COL1A2):c.1009G>A (p.Gly337Ser) rs67865220
NM_000089.3(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000089.3(COL1A2):c.1127G>T (p.Gly376Val)
NM_000089.3(COL1A2):c.1324G>A (p.Gly442Arg) rs1554396361
NM_000089.3(COL1A2):c.1342G>C (p.Gly448Arg)
NM_000089.3(COL1A2):c.1378G>A (p.Gly460Ser) rs72658118
NM_000089.3(COL1A2):c.1404+1G>A rs67162110
NM_000089.3(COL1A2):c.1478G>A (p.Gly493Glu) rs72658121
NM_000089.3(COL1A2):c.1513G>A (p.Gly505Ser) rs1554396679
NM_000089.3(COL1A2):c.1666G>T (p.Gly556Cys) rs1554396832
NM_000089.3(COL1A2):c.1892G>T (p.Gly631Val)
NM_000089.3(COL1A2):c.2098G>C (p.Gly700Arg)
NM_000089.3(COL1A2):c.2098G>T (p.Gly700Cys)
NM_000089.3(COL1A2):c.226-1G>C rs66820119
NM_000089.3(COL1A2):c.226-2A>G rs72656355
NM_000089.3(COL1A2):c.2260G>T (p.Gly754Cys) rs72658177
NM_000089.3(COL1A2):c.2314G>A (p.Gly772Ser) rs72658185
NM_000089.3(COL1A2):c.2521G>A (p.Gly841Ser)
NM_000089.3(COL1A2):c.2565+1G>A rs72658198
NM_000089.3(COL1A2):c.2565+3_2565+6delAAGT
NM_000089.3(COL1A2):c.2756G>A (p.Gly919Asp) rs1554398261
NM_000089.3(COL1A2):c.279+2T>C rs72656357
NM_000089.3(COL1A2):c.279G>A (p.Met93Ile) rs72656356
NM_000089.3(COL1A2):c.2835+1G>A rs72659310
NM_000089.3(COL1A2):c.293dup (p.Pro98_Arg99insTer) rs797044459
NM_000089.3(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.3(COL1A2):c.3601G>T (p.Glu1201Ter) rs72659343
NM_000089.3(COL1A2):c.389G>A (p.Gly130Asp) rs72656360
NM_000089.3(COL1A2):c.432+1G>A rs1554395431
NM_000089.3(COL1A2):c.577G>A (p.Gly193Ser) rs72656370
NM_000089.3(COL1A2):c.586G>A (p.Gly196Ser)
NM_000089.3(COL1A2):c.638_639+6del rs1562900123
NM_000089.3(COL1A2):c.70+717A>G rs72656354
NM_000089.3(COL1A2):c.767G>T (p.Gly256Val) rs67525025
NM_000089.3(COL1A2):c.838G>A (p.Gly280Ser) rs72656387
NM_000089.3(COL1A2):c.874G>A (p.Gly292Ser) rs906553840
NM_000089.3(COL1A2):c.920G>A (p.Gly307Asp) rs72656390
NM_000089.3(COL1A2):c.946G>A (p.Gly316Ser) rs72656392
NM_000089.3(COL1A2):c.982G>A (p.Gly328Ser) rs66612022
NM_000089.3:c.1404+1G>C
NM_000089.3:c.279+1G>A
NM_000089.3:c.540+5G>A
NM_000090.3(COL3A1):c.1033G>A (p.Gly345Arg) rs587779419
NM_000090.3(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000090.3(COL3A1):c.1069_1070insACCCTGCAG (p.Gly357_Ser358insAspProAla) rs587779579
NM_000090.3(COL3A1):c.1087G>A (p.Gly363Ser) rs587779499
NM_000090.3(COL3A1):c.1096G>A (p.Gly366Arg) rs587779696
NM_000090.3(COL3A1):c.1100_1117del (p.Gln367_Gly372del) rs587779525
NM_000090.3(COL3A1):c.1105_1107delGGA (p.Gly369del) rs587779686
NM_000090.3(COL3A1):c.1115G>T (p.Gly372Val) rs587779547
NM_000090.3(COL3A1):c.1124G>A (p.Gly375Glu) rs587779569
NM_000090.3(COL3A1):c.1142G>A (p.Gly381Asp) rs587779544
NM_000090.3(COL3A1):c.1149+1G>A (p.Gly351_Pro383del) rs587779443
NM_000090.3(COL3A1):c.1149+1G>T (p.Gly351_Pro383del) rs587779443
NM_000090.3(COL3A1):c.1149+5G>A (p.Gly351_Pro383del) rs587779538
NM_000090.3(COL3A1):c.1150-1G>C (p.Gly384_Met398del) rs587779520
NM_000090.3(COL3A1):c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC (p.Gly384_Met398del) rs587779612
NM_000090.3(COL3A1):c.1189_1194+23del (p.Gly384_Met398del) rs587779430
NM_000090.3(COL3A1):c.1194+1G>A (p.Gly384_Met398del) rs587779459
NM_000090.3(COL3A1):c.1194+1G>C (p.Gly384_Met398del) rs587779459
NM_000090.3(COL3A1):c.1231G>C (p.Gly411Arg) rs587779534
NM_000090.3(COL3A1):c.1240G>T (p.Gly414Cys) rs587779485
NM_000090.3(COL3A1):c.1249G>A (p.Gly417Arg) rs587779637
NM_000090.3(COL3A1):c.1258G>A (p.Gly420Ser) rs587779692
NM_000090.3(COL3A1):c.1267G>A (p.Gly423Ser) rs587779631
NM_000090.3(COL3A1):c.1268G>A (p.Gly423Asp) rs587779586
NM_000090.3(COL3A1):c.1294-3T>G (p.Gly432_Arg449del) rs587779496
NM_000090.3(COL3A1):c.1330G>A (p.Gly444Arg) rs587779489
NM_000090.3(COL3A1):c.1330G>C (p.Gly444Arg) rs587779489
NM_000090.3(COL3A1):c.1347+1G>A (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) rs397509370
NM_000090.3(COL3A1):c.1347+1G>T (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) rs397509370
NM_000090.3(COL3A1):c.1347+3A>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) rs587779453
NM_000090.3(COL3A1):c.1347+5G>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) rs587779721
NM_000090.3(COL3A1):c.134G>A (p.Trp45Ter) rs1559052609
NM_000090.3(COL3A1):c.1358G>A (p.Gly453Asp) rs587779621
NM_000090.3(COL3A1):c.1384G>A (p.Gly462Ser) rs587779633
NM_000090.3(COL3A1):c.1410del (p.Gly471fs) rs587779665
NM_000090.3(COL3A1):c.1455+133_1978-178del (p.Gly486_Pro659del)
NM_000090.3(COL3A1):c.1456-10T>G (p.Arg485_Gly486insTyrPheGln) rs587779701
NM_000090.3(COL3A1):c.1456-13_1499del (p.Gly486_Lys503del) rs1553508025
NM_000090.3(COL3A1):c.1466G>A (p.Gly489Glu) rs587779476
NM_000090.3(COL3A1):c.1475G>A (p.Gly492Glu) rs587779500
NM_000090.3(COL3A1):c.1475G>T (p.Gly492Val) rs587779500
NM_000090.3(COL3A1):c.1501G>A (p.Gly501Arg) rs587779523
NM_000090.3(COL3A1):c.1502G>A (p.Gly501Glu) rs1559056621
NM_000090.3(COL3A1):c.1509+224_1510-71delinsNM_000090.3:c.799-118_852+62 (p.Lys503_Gly504insGFDGRNGEKGETGAPGLK)
NM_000090.3(COL3A1):c.1511G>T (p.Gly504Val) rs587779632
NM_000090.3(COL3A1):c.1556G>A (p.Gly519Glu) rs587779693
NM_000090.3(COL3A1):c.1610delG rs587779702
NM_000090.3(COL3A1):c.1618G>A (p.Gly540Arg) rs587779584
NM_000090.3(COL3A1):c.1646G>A (p.Gly549Glu) rs587779679
NM_000090.3(COL3A1):c.1652del (p.Pro551fs) rs1060500199
NM_000090.3(COL3A1):c.1655G>A (p.Gly552Glu) rs121912928
NM_000090.3(COL3A1):c.1662+1G>A (p.Gly537_Pro554del) rs587779535
NM_000090.3(COL3A1):c.1662+1G>C (p.Gly537_Pro554del) rs587779535
NM_000090.3(COL3A1):c.1662+1G>T (p.Gly537_Pro554del) rs587779535
NM_000090.3(COL3A1):c.1662+2dup rs587779537
NM_000090.3(COL3A1):c.1684C>T (p.Arg562Ter)
NM_000090.3(COL3A1):c.1701_2391+367del (p.Gly555_Pro797del)
NM_000090.3(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.3(COL3A1):c.1744G>C (p.Gly582Arg) rs121912923
NM_000090.3(COL3A1):c.1761+15_1870-100del (p.Gly588_Thr623del)
NM_000090.3(COL3A1):c.1761+2T>C (p.Gly555_Asp587del) rs587779530
NM_000090.3(COL3A1):c.1761+2T>G (p.Gly555_Asp587del) rs587779530
NM_000090.3(COL3A1):c.1761+4_1761+5del rs1559057346
NM_000090.3(COL3A1):c.1761+5G>A (p.Gly555_Asp587del) rs397509372
NM_000090.3(COL3A1):c.1761+5G>T rs397509372
NM_000090.3(COL3A1):c.1762-2A>G (p.Gly588_Gln605del) rs587779722
NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.3(COL3A1):c.1763_1769delinsTAAG (p.Gly588_Pro590delinsValSer) rs587779510
NM_000090.3(COL3A1):c.1773dupT (p.Lys592Terfs) rs587779608
NM_000090.3(COL3A1):c.1786C>T (p.Arg596Ter) rs587779527
NM_000090.3(COL3A1):c.1808G>A (p.Gly603Asp) rs587779477
NM_000090.3(COL3A1):c.1808G>T (p.Gly603Val) rs587779477
NM_000090.3(COL3A1):c.1808del (p.Gly603fs) rs587779594
NM_000090.3(COL3A1):c.1816G>C (p.Gly606Arg) rs587779613
NM_000090.3(COL3A1):c.1831_1832del (p.Asn611fs) rs587779462
NM_000090.3(COL3A1):c.1844G>A (p.Gly615Glu) rs587779634
NM_000090.3(COL3A1):c.1861G>C (p.Gly621Arg) rs587779616
NM_000090.3(COL3A1):c.1861G>T (p.Gly621Trp) rs587779616
NM_000090.3(COL3A1):c.1862G>A (p.Gly621Glu) rs587779539
NM_000090.3(COL3A1):c.1862G>T (p.Gly621Val) rs587779539
NM_000090.3(COL3A1):c.1869+1G>C (p.Gly606_Thr623del) rs587779600
NM_000090.3(COL3A1):c.1869+5G>A rs397509376
NM_000090.3(COL3A1):c.1869+5G>T (p.Gly606_Thr623del) rs397509376
NM_000090.3(COL3A1):c.1870-2A>G (p.Gly624_Gln641del) rs587779575
NM_000090.3(COL3A1):c.1870-2A>T (p.Gly624_Gln641del) rs587779575
NM_000090.3(COL3A1):c.1898G>A (p.Gly633Glu) rs587779611
NM_000090.3(COL3A1):c.1906G>C (p.Gly636Arg) rs587779522
NM_000090.3(COL3A1):c.1915G>A (p.Gly639Arg) rs587779435
NM_000090.3(COL3A1):c.1915G>C (p.Gly639Arg) rs587779435
NM_000090.3(COL3A1):c.1916G>A (p.Gly639Glu) rs587779421
NM_000090.3(COL3A1):c.1923+1G>A (p.Gly624_Gln641del) rs587779573
NM_000090.3(COL3A1):c.1923+1G>C (p.Gly624_Gln641del) rs587779573
NM_000090.3(COL3A1):c.1923+2_1923+5del (p.Gly624_Gln641del) rs786200946
NM_000090.3(COL3A1):c.1925G>T (p.Gly642Val) rs587779661
NM_000090.3(COL3A1):c.1961G>A (p.Gly654Glu) rs587779620
NM_000090.3(COL3A1):c.1970G>A (p.Gly657Glu) rs587779699
NM_000090.3(COL3A1):c.1974_1977+4del rs587779475
NM_000090.3(COL3A1):c.1977+2T>G (p.Gly642_Pro659del) rs587779603
NM_000090.3(COL3A1):c.1978-6_1981del (p.Gly660_Lys662del) rs587779700
NM_000090.3(COL3A1):c.1979G>A (p.Gly660Asp) rs587779493
NM_000090.3(COL3A1):c.1987G>C (p.Gly663Arg) rs587779433
NM_000090.3(COL3A1):c.1988G>A (p.Gly663Asp) rs587779454
NM_000090.3(COL3A1):c.1988G>T (p.Gly663Val) rs587779454
NM_000090.3(COL3A1):c.1997G>A (p.Gly666Asp) rs121912921
NM_000090.3(COL3A1):c.2022+2T>C (p.Gly660_Lys674del) rs587779429
NM_000090.3(COL3A1):c.2022G>A (p.Lys674=) rs587779643
NM_000090.3(COL3A1):c.2022G>T (p.Lys674Asn) rs587779643
NM_000090.3(COL3A1):c.2023-1G>A (p.Gly675Valfs*116) rs587779708
NM_000090.3(COL3A1):c.2024G>T (p.Gly675Val) rs587779597
NM_000090.3(COL3A1):c.2051G>A (p.Gly684Glu)
NM_000090.3(COL3A1):c.2051G>T (p.Gly684Val) rs587779587
NM_000090.3(COL3A1):c.2059G>C (p.Gly687Arg) rs587779577
NM_000090.3(COL3A1):c.2068G>A (p.Gly690Arg) rs587779474
NM_000090.3(COL3A1):c.2069G>T (p.Gly690Val) rs587779458
NM_000090.3(COL3A1):c.2078G>C (p.Gly693Ala) rs587779442
NM_000090.3(COL3A1):c.2087G>A (p.Gly696Asp) rs587779591
NM_000090.3(COL3A1):c.2095G>C (p.Gly699Arg) rs587779668
NM_000090.3(COL3A1):c.2096G>A (p.Gly699Asp) rs587779706
NM_000090.3(COL3A1):c.2105G>A (p.Gly702Asp) rs587779512
NM_000090.3(COL3A1):c.2105G>T (p.Gly702Val) rs587779512
NM_000090.3(COL3A1):c.2113G>A (p.Gly705Arg) rs587779623
NM_000090.3(COL3A1):c.2114G>A (p.Gly705Glu) rs587779460
NM_000090.3(COL3A1):c.2121+1G>C (p.Gly675_Lys707del) rs587779675
NM_000090.3(COL3A1):c.2123G>T (p.Gly708Val) rs111929073
NM_000090.3(COL3A1):c.2131G>A (p.Gly711Ser) rs587779695
NM_000090.3(COL3A1):c.2134_2160del (p.Pro712_Gly720del) rs587779560
NM_000090.3(COL3A1):c.2140G>A (p.Gly714Arg) rs587779437
NM_000090.3(COL3A1):c.2141G>A (p.Gly714Glu) rs587779678
NM_000090.3(COL3A1):c.2142_2168del (p.Pro715_Gly723del) rs587779657
NM_000090.3(COL3A1):c.2150G>A (p.Gly717Asp) rs587779549
NM_000090.3(COL3A1):c.2168G>A (p.Gly723Asp) rs587779581
NM_000090.3(COL3A1):c.2176G>A (p.Gly726Arg) rs587779638
NM_000090.3(COL3A1):c.2177G>A (p.Gly726Glu) rs587779698
NM_000090.3(COL3A1):c.2185G>A (p.Gly729Arg) rs587779543
NM_000090.3(COL3A1):c.2186G>A (p.Gly729Glu) rs587779680
NM_000090.3(COL3A1):c.2194G>A (p.Gly732Arg) rs587779606
NM_000090.3(COL3A1):c.2203G>A (p.Gly735Arg) rs587779484
NM_000090.3(COL3A1):c.2212G>A (p.Gly738Ser) rs121912925
NM_000090.3(COL3A1):c.2212G>T (p.Gly738Cys) rs121912925
NM_000090.3(COL3A1):c.2213G>T (p.Gly738Val) rs587779615
NM_000090.3(COL3A1):c.2221G>A (p.Gly741Ser) rs587779685
NM_000090.3(COL3A1):c.2222G>A (p.Gly741Asp) rs553203474
NM_000090.3(COL3A1):c.2231G>T (p.Gly744Val) rs587779697
NM_000090.3(COL3A1):c.2276G>A (p.Gly759Asp) rs587779418
NM_000090.3(COL3A1):c.2284-109_3489del (p.Gly762_Glu1175del)
NM_000090.3(COL3A1):c.2284-2A>G (p.Gly762_Lys779del) rs587779558
NM_000090.3(COL3A1):c.2284G>C (p.Gly762Arg) rs587779694
NM_000090.3(COL3A1):c.2285G>A (p.Gly762Asp) rs587779541
NM_000090.3(COL3A1):c.2285G>T (p.Gly762Val) rs587779541
NM_000090.3(COL3A1):c.2293G>A (p.Gly765Ser) rs587779630
NM_000090.3(COL3A1):c.2294G>T (p.Gly765Val) rs587779492
NM_000090.3(COL3A1):c.2337+1G>A (p.Gly762_Lys779del) rs587779663
NM_000090.3(COL3A1):c.2337+2T>C (p.Gly762_Lys779del) rs587779513
NM_000090.3(COL3A1):c.2337G>A (p.Lys779=) rs587779461
NM_000090.3(COL3A1):c.2356G>A (p.Gly786Arg) rs113485686
NM_000090.3(COL3A1):c.2357G>T (p.Gly786Val) rs587779564
NM_000090.3(COL3A1):c.2392-3_2395del rs1559059873
NM_000090.3(COL3A1):c.2402G>A (p.Gly801Asp) rs587779689
NM_000090.3(COL3A1):c.2437G>A (p.Gly813Ser) rs397509369
NM_000090.3(COL3A1):c.2445+2dup rs587779572
NM_000090.3(COL3A1):c.2445+5G>A (p.Gly798_Pro815del) rs587779636
NM_000090.3(COL3A1):c.2482G>T (p.Gly828Trp) rs587779486
NM_000090.3(COL3A1):c.2490_2516del (p.Glu832_Gly840del) rs397509374
NM_000090.3(COL3A1):c.2501G>A (p.Gly834Asp) rs587779642
NM_000090.3(COL3A1):c.2510G>A (p.Gly837Asp) rs587779526
NM_000090.3(COL3A1):c.2534dup (p.Gly846fs) rs587779653
NM_000090.3(COL3A1):c.2553+1G>A (p.Gly816_Ala851del) rs587779664
NM_000090.3(COL3A1):c.2553+1G>C (p.Gly816_Ala851del) rs587779664
NM_000090.3(COL3A1):c.2553+1del rs587779514
NM_000090.3(COL3A1):c.2553+2T>C (p.Gly816_Ala851del) rs587779684
NM_000090.3(COL3A1):c.2553+3A>T (p.Gly816_Ala851del) rs587779713
NM_000090.3(COL3A1):c.2553+5G>T rs397509371
NM_000090.3(COL3A1):c.2554-1G>A (p.Gly852Valfs*384) rs587779519
NM_000090.3(COL3A1):c.2554G>T (p.Gly852Cys) rs587779690
NM_000090.3(COL3A1):c.2555G>A (p.Gly852Asp) rs587779494
NM_000090.3(COL3A1):c.2564G>A (p.Gly855Asp) rs587779466
NM_000090.3(COL3A1):c.2569C>T (p.Gln857Ter) rs1559060412
NM_000090.3(COL3A1):c.2573G>T (p.Gly858Val) rs587779717
NM_000090.3(COL3A1):c.2600G>A (p.Gly867Asp) rs587779417
NM_000090.3(COL3A1):c.2607+5G>A (p.Gly852_Pro869del) rs587779457
NM_000090.3(COL3A1):c.2607+5G>T (p.Gly852_Pro869del) rs587779457
NM_000090.3(COL3A1):c.2608-?_3255+?del (p.Gly870_Pro1085del)
NM_000090.3(COL3A1):c.2636G>T (p.Gly879Val) rs587779645
NM_000090.3(COL3A1):c.2645G>A (p.Gly882Asp) rs587779622
NM_000090.3(COL3A1):c.2655_2661+7delinsGACCTGAGAC (p.Ser886Thrfs*2) rs587779590
NM_000090.3(COL3A1):c.2681G>C (p.Gly894Ala) rs587779589
NM_000090.3(COL3A1):c.2699G>A (p.Gly900Asp) rs587779599
NM_000090.3(COL3A1):c.2708G>A (p.Gly903Glu) rs587779505
NM_000090.3(COL3A1):c.2726G>T (p.Gly909Val) rs587779483
NM_000090.3(COL3A1):c.2735G>A (p.Gly912Asp) rs587779716
NM_000090.3(COL3A1):c.2753G>A (p.Gly918Glu) rs587779662
NM_000090.3(COL3A1):c.2770G>A (p.Gly924Ser) rs587779471
NM_000090.3(COL3A1):c.2770G>T (p.Gly924Cys) rs587779471
NM_000090.3(COL3A1):c.2771G>A (p.Gly924Asp) rs587779450
NM_000090.3(COL3A1):c.2771G>T (p.Gly924Val) rs587779450
NM_000090.3(COL3A1):c.2780G>A (p.Gly927Asp) rs587779432
NM_000090.3(COL3A1):c.2806G>C (p.Gly936Arg) rs587779566
NM_000090.3(COL3A1):c.2815G>A (p.Gly939Ser) rs587779550
NM_000090.3(COL3A1):c.2815G>T (p.Gly939Cys) rs587779550
NM_000090.3(COL3A1):c.2823+1G>A (p.Gly942Valfs*28) rs587779424
NM_000090.3(COL3A1):c.2824-1G>A (p.Gly942Glufs*294) rs587779617
NM_000090.3(COL3A1):c.2824G>A (p.Gly942Arg) rs587779438
NM_000090.3(COL3A1):c.2825G>A (p.Gly942Glu) rs587779517
NM_000090.3(COL3A1):c.2828del (p.Ala943fs) rs1553509208
NM_000090.3(COL3A1):c.2833G>A (p.Gly945Ser) rs587779567
NM_000090.3(COL3A1):c.2842G>A (p.Gly948Arg) rs587779447
NM_000090.3(COL3A1):c.2860G>A (p.Gly954Arg) rs587779674
NM_000090.3(COL3A1):c.2861G>A (p.Gly954Glu) rs587779434
NM_000090.3(COL3A1):c.2869G>T (p.Gly957Cys) rs121912913
NM_000090.3(COL3A1):c.2870G>A (p.Gly957Asp) rs587779654
NM_000090.3(COL3A1):c.2870G>T (p.Gly957Val) rs587779654
NM_000090.3(COL3A1):c.2879G>T (p.Gly960Val) rs121912922
NM_000090.3(COL3A1):c.2887G>C (p.Gly963Arg) rs587779640
NM_000090.3(COL3A1):c.2887G>T (p.Gly963Cys) rs587779640
NM_000090.3(COL3A1):c.2888G>A (p.Gly963Asp) rs587779511
NM_000090.3(COL3A1):c.2897G>T (p.Gly966Val) rs587779571
NM_000090.3(COL3A1):c.2905G>A (p.Gly969Arg) rs587779580
NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser) rs587779723
NM_000090.3(COL3A1):c.2915G>A (p.Gly972Asp) rs587779559
NM_000090.3(COL3A1):c.2915G>C (p.Gly972Ala) rs587779559
NM_000090.3(COL3A1):c.2924G>T (p.Gly975Val) rs587779542
NM_000090.3(COL3A1):c.2931+1G>A (p.Gly942_Lys977del) rs397509373
NM_000090.3(COL3A1):c.2933G>A (p.Gly978Asp) rs587779595
NM_000090.3(COL3A1):c.2935G>T (p.Glu979Ter) rs587779488
NM_000090.3(COL3A1):c.2941G>A (p.Gly981Arg) rs587779449
NM_000090.3(COL3A1):c.2941G>C (p.Gly981Arg) rs587779449
NM_000090.3(COL3A1):c.2950_2951delinsAC (p.Gly984Thr) rs1559061242
NM_000090.3(COL3A1):c.2959G>A (p.Gly987Ser) rs587779583
NM_000090.3(COL3A1):c.2977G>T (p.Gly993Cys) rs587779416
NM_000090.3(COL3A1):c.2978G>A (p.Gly993Asp) rs587779456
NM_000090.3(COL3A1):c.2987G>A (p.Gly996Glu) rs587779576
NM_000090.3(COL3A1):c.2995G>A (p.Gly999Ser) rs587779548
NM_000090.3(COL3A1):c.2995G>C (p.Gly999Arg) rs587779548
NM_000090.3(COL3A1):c.3023G>A (p.Gly1008Asp) rs587779659
NM_000090.3(COL3A1):c.3032G>A (p.Gly1011Glu) rs587779552
NM_000090.3(COL3A1):c.3039+154_3525+223del
NM_000090.3(COL3A1):c.3039+1G>A (p.Asp1013_Gly1014insMSSSFYSTSQ) rs587779506
NM_000090.3(COL3A1):c.3039+5G>A (p.Asp1013_Gly1014insVNSSFYSTSQ) rs587779568
NM_000090.3(COL3A1):c.3039+6T>C (p.Asp1013_Gly1014insVSSSFYSTSQ) rs587779532
NM_000090.3(COL3A1):c.3040-127_3255+107del
NM_000090.3(COL3A1):c.3041G>A (p.Gly1014Glu) rs121912916
NM_000090.3(COL3A1):c.3062_3064del (p.Leu1021del) rs587779529
NM_000090.3(COL3A1):c.3070C>T (p.Arg1024Ter) rs587779479
NM_000090.3(COL3A1):c.3093+1G>A rs869312034
NM_000090.3(COL3A1):c.3093+2T>C (p.Gly1014_Lys1031del) rs587779503
NM_000090.3(COL3A1):c.3093+2T>G (p.Gly1014_Lys1031del) rs587779503
NM_000090.3(COL3A1):c.3095G>T (p.Gly1032Val) rs587779428
NM_000090.3(COL3A1):c.30G>A (p.Trp10Ter) rs587779677
NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys) rs587779704
NM_000090.3(COL3A1):c.3104G>T (p.Gly1035Val) rs587779582
NM_000090.3(COL3A1):c.3122G>T (p.Gly1041Val) rs587779491
NM_000090.3(COL3A1):c.3140G>A (p.Gly1047Asp) rs587779545
NM_000090.3(COL3A1):c.3149G>A (p.Gly1050Asp) rs121912914
NM_000090.3(COL3A1):c.3149G>T (p.Gly1050Val) rs121912914
NM_000090.3(COL3A1):c.3157G>C (p.Gly1053Arg) rs587779651
NM_000090.3(COL3A1):c.3167G>A (p.Gly1056Asp) rs587779540
NM_000090.3(COL3A1):c.3176G>T (p.Gly1059Val) rs587779619
NM_000090.3(COL3A1):c.3193G>A (p.Gly1065Arg) rs587779563
NM_000090.3(COL3A1):c.3194G>A (p.Gly1065Glu) rs1553509430
NM_000090.3(COL3A1):c.3202-2A>G (p.Gly1068_Pro1085del) rs587779682
NM_000090.3(COL3A1):c.3203G>T (p.Gly1068Val) rs587779551
NM_000090.3(COL3A1):c.3212G>T (p.Gly1071Val) rs587779709
NM_000090.3(COL3A1):c.3220G>A (p.Gly1074Ser) rs587779554
NM_000090.3(COL3A1):c.3223_3240del (p.Ala1075_Gly1080del) rs587779509
NM_000090.3(COL3A1):c.3230G>T (p.Gly1077Val) rs121912915
NM_000090.3(COL3A1):c.3239G>A (p.Gly1080Asp) rs587779469
NM_000090.3(COL3A1):c.3255+1G>A (p.Gly1068_Pro1085del) rs587779480
NM_000090.3(COL3A1):c.3255+1G>C
NM_000090.3(COL3A1):c.3255+5G>A (p.Gly1068_Pro1085del) rs587779501
NM_000090.3(COL3A1):c.3256-43T>G (p.Pro1085_Gly1086insVCVYMTSIQNMFLK) rs587779667
NM_000090.3(COL3A1):c.3257G>T (p.Gly1086Val) rs1060500203
NM_000090.3(COL3A1):c.3266G>A (p.Gly1089Asp) rs587779672
NM_000090.3(COL3A1):c.3275G>T (p.Gly1092Val) rs587779666
NM_000090.3(COL3A1):c.3284G>A (p.Gly1095Asp) rs587779610
NM_000090.3(COL3A1):c.3293G>T (p.Gly1098Val) rs587779614
NM_000090.3(COL3A1):c.3301G>A (p.Gly1101Arg) rs587779439
NM_000090.3(COL3A1):c.3302G>A (p.Gly1101Glu) rs121912924
NM_000090.3(COL3A1):c.3319G>A (p.Gly1107Arg) rs587779561
NM_000090.3(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000090.3(COL3A1):c.3347G>T (p.Gly1116Val) rs587779445
NM_000090.3(COL3A1):c.3356G>A (p.Gly1119Asp) rs587779639
NM_000090.3(COL3A1):c.3364-2A>C (p.Gly1122_Arg1139del) rs587779546
NM_000090.3(COL3A1):c.3391G>A (p.Gly1131Ser) rs587779536
NM_000090.3(COL3A1):c.3410G>A (p.Gly1137Asp) rs587779720
NM_000090.3(COL3A1):c.3417+1G>A (p.Gly1122_Arg1139del+) rs587779444
NM_000090.3(COL3A1):c.3417+1G>C (p.Gly1122_Arg1139del+) rs587779444
NM_000090.3(COL3A1):c.3417+1G>T (p.Gly1122_Arg1139del+) rs587779444
NM_000090.3(COL3A1):c.3417+4_3417+5del rs1553509630
NM_000090.3(COL3A1):c.3417+5G>A (p.Gly1122_Arg1139del+) rs587779448
NM_000090.3(COL3A1):c.3418-1G>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSY) rs587779562
NM_000090.3(COL3A1):c.3418-2A>G (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSW) rs587779502
NM_000090.3(COL3A1):c.3418-2A>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSL) rs587779502
NM_000090.3(COL3A1):c.3419G>A (p.Gly1140Glu) rs587779648
NM_000090.3(COL3A1):c.3437G>A (p.Gly1146Glu) rs587779495
NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_000090.3(COL3A1):c.3473G>A (p.Gly1158Asp) rs587779472
NM_000090.3(COL3A1):c.3482G>A (p.Gly1161Glu) rs587779473
NM_000090.3(COL3A1):c.3482G>T (p.Gly1161Val) rs587779473
NM_000090.3(COL3A1):c.3490G>A (p.Gly1164Arg) rs587779553
NM_000090.3(COL3A1):c.3490G>C (p.Gly1164Arg) rs587779553
NM_000090.3(COL3A1):c.3490G>T (p.Gly1164Trp) rs587779553
NM_000090.3(COL3A1):c.3491G>A (p.Gly1164Glu) rs587779431
NM_000090.3(COL3A1):c.3491G>T (p.Gly1164Val) rs587779431
NM_000090.3(COL3A1):c.3496C>T (p.Arg1166Ter) rs587779646
NM_000090.3(COL3A1):c.3499G>C (p.Gly1167Arg) rs587779609
NM_000090.3(COL3A1):c.3499G>T (p.Gly1167Cys) rs587779609
NM_000090.3(COL3A1):c.3500G>A (p.Gly1167Asp) rs587779578
NM_000090.3(COL3A1):c.3500G>T (p.Gly1167Val) rs587779578
NM_000090.3(COL3A1):c.3508G>A (p.Gly1170Ser) rs587779482
NM_000090.3(COL3A1):c.3509G>A (p.Gly1170Asp) rs587779465
NM_000090.3(COL3A1):c.3509G>T (p.Gly1170Val) rs587779465
NM_000090.3(COL3A1):c.3517G>A (p.Gly1173Arg) rs587779521
NM_000090.3(COL3A1):c.3518G>A (p.Gly1173Glu) rs121912918
NM_000090.3(COL3A1):c.3518G>T (p.Gly1173Val) rs121912918
NM_000090.3(COL3A1):c.3527G>A (p.Gly1176Asp) rs1553509726
NM_000090.3(COL3A1):c.3527_3528GC>AA rs587779669
NM_000090.3(COL3A1):c.3535G>C (p.Gly1179Arg) rs587779574
NM_000090.3(COL3A1):c.3536G>T (p.Gly1179Val) rs587779627
NM_000090.3(COL3A1):c.3544G>A (p.Gly1182Arg) rs587779683
NM_000090.3(COL3A1):c.3545G>A (p.Gly1182Glu) rs111505097
NM_000090.3(COL3A1):c.3545G>T (p.Gly1182Val) rs111505097
NM_000090.3(COL3A1):c.3554G>A (p.Gly1185Asp) rs121912917
NM_000090.3(COL3A1):c.3554G>T (p.Gly1185Val) rs121912917
NM_000090.3(COL3A1):c.3562G>A (p.Gly1188Arg) rs587779504
NM_000090.3(COL3A1):c.3563G>A (p.Gly1188Glu) rs112456072
NM_000090.3(COL3A1):c.3572G>A (p.Gly1191Asp) rs587779703
NM_000090.3(COL3A1):c.3575_3576insAGGG (p.Pro1193fs) rs587779712
NM_000090.3(COL3A1):c.3833G>A (p.Trp1278Ter) rs1060500187
NM_000090.3(COL3A1):c.3847C>T (p.Gln1283Ter) rs587779467
NM_000090.3(COL3A1):c.3863A>T (p.Asp1288Val) rs587779658
NM_000090.3(COL3A1):c.3966del (p.Lys1323fs) rs587779490
NM_000090.3(COL3A1):c.3989del (p.Glu1330fs) rs587779647
NM_000090.3(COL3A1):c.4011+1G>T
NM_000090.3(COL3A1):c.406G>C (p.Gly136Arg) rs387906557
NM_000090.3(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.3(COL3A1):c.413del (p.Pro138fs) rs587779707
NM_000090.3(COL3A1):c.4254G>A (p.Thr1418=) rs587779565
NM_000090.3(COL3A1):c.4267G>T (p.Glu1423Ter) rs1553510000
NM_000090.3(COL3A1):c.4286_4287del (p.Val1428_Phe1429insTer) rs587779719
NM_000090.3(COL3A1):c.4294C>T (p.Arg1432Ter) rs587779585
NM_000090.3(COL3A1):c.4399T>C (p.Ter1467Gln) rs587779618
NM_000090.3(COL3A1):c.539G>A (p.Gly180Asp) rs587779714
NM_000090.3(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.3(COL3A1):c.547G>C (p.Gly183Arg) rs121912926
NM_000090.3(COL3A1):c.547G>T (p.Gly183Cys) rs121912926
NM_000090.3(COL3A1):c.548G>A (p.Gly183Asp) rs587779420
NM_000090.3(COL3A1):c.548G>C (p.Gly183Ala) rs587779420
NM_000090.3(COL3A1):c.555del (p.Gly186fs) rs587779451
NM_000090.3(COL3A1):c.556G>A (p.Gly186Ser) rs587779446
NM_000090.3(COL3A1):c.565G>C (p.Gly189Arg) rs587779507
NM_000090.3(COL3A1):c.575G>T (p.Gly192Val) rs587779710
NM_000090.3(COL3A1):c.582+1G>C (p.Gly177_Pro194del) rs587779508
NM_000090.3(COL3A1):c.582+2dup rs587779524
NM_000090.3(COL3A1):c.582+55_798+320delinsTATGCAAAATCAAAC
NM_000090.3(COL3A1):c.582+5G>A (p.Gly177_Pro194del) rs587779671
NM_000090.3(COL3A1):c.582+5G>T (p.Gly177_Pro194del) rs587779671
NM_000090.3(COL3A1):c.582+5_582+11delinsACA rs1559053784
NM_000090.3(COL3A1):c.582+6T>A (p.Gly177_Pro194del) rs397509375
NM_000090.3(COL3A1):c.582+6T>C rs397509375
NM_000090.3(COL3A1):c.583G>C (p.Gly195Arg) rs267599120
NM_000090.3(COL3A1):c.592G>A (p.Gly198Arg) rs587779601
NM_000090.3(COL3A1):c.593G>A (p.Gly198Glu) rs587779641
NM_000090.3(COL3A1):c.601G>C (p.Gly201Arg) rs587779436
NM_000090.3(COL3A1):c.608del (p.Pro203fs) rs1553507265
NM_000090.3(COL3A1):c.610G>A (p.Gly204Ser) rs587779711
NM_000090.3(COL3A1):c.611G>A (p.Gly204Asp) rs587779626
NM_000090.3(COL3A1):c.615_629dup (p.Gly207_Pro211dup) rs587779628
NM_000090.3(COL3A1):c.619G>T (p.Gly207Trp) rs1553507274
NM_000090.3(COL3A1):c.620G>T (p.Gly207Val) rs587779592
NM_000090.3(COL3A1):c.629G>T (p.Gly210Val) rs587779515
NM_000090.3(COL3A1):c.631_636+6delinsTACTAAATATA (p.Gly195_Ser212del) rs587779681
NM_000090.3(COL3A1):c.636+1G>A (p.Gly195_Ser212del) rs587779676
NM_000090.3(COL3A1):c.636+5G>A (p.Gly195_Ser212del) rs587779688
NM_000090.3(COL3A1):c.637G>A (p.Gly213Ser) rs587779557
NM_000090.3(COL3A1):c.647G>A (p.Gly216Glu) rs587779596
NM_000090.3(COL3A1):c.655G>T (p.Gly219Cys) rs587779624
NM_000090.3(COL3A1):c.656G>A (p.Gly219Asp) rs587779441
NM_000090.3(COL3A1):c.656G>C (p.Gly219Ala) rs587779441
NM_000090.3(COL3A1):c.665G>A (p.Gly222Asp) rs587779518
NM_000090.3(COL3A1):c.665G>T (p.Gly222Val) rs587779518
NM_000090.3(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000090.3(COL3A1):c.674G>T (p.Gly225Val) rs587779533
NM_000090.3(COL3A1):c.682G>C (p.Gly228Arg) rs587779470
NM_000090.3(COL3A1):c.683G>A (p.Gly228Glu) rs587779555
NM_000090.3(COL3A1):c.690+1G>A (p.Gly213_Asp230del) rs587779660
NM_000090.3(COL3A1):c.690+2T>A (p.Gly213_Asp230del) rs587779497
NM_000090.3(COL3A1):c.690+2T>G (p.Gly213_Asp230del) rs587779497
NM_000090.3(COL3A1):c.691-2A>G
NM_000090.3(COL3A1):c.701G>A (p.Gly234Asp) rs587779656
NM_000090.3(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000090.3(COL3A1):c.718G>C (p.Gly240Arg) rs587779468
NM_000090.3(COL3A1):c.728G>A (p.Gly243Glu) rs587779629
NM_000090.3(COL3A1):c.728G>T (p.Gly243Val) rs587779629
NM_000090.3(COL3A1):c.737G>A (p.Gly246Glu) rs587779570
NM_000090.3(COL3A1):c.746G>A (p.Gly249Asp) rs121912927
NM_000090.3(COL3A1):c.746G>T (p.Gly249Val) rs121912927
NM_000090.3(COL3A1):c.754G>C (p.Gly252Arg) rs587779705
NM_000090.3(COL3A1):c.755G>A (p.Gly252Asp) rs587779464
NM_000090.3(COL3A1):c.755G>T (p.Gly252Val) rs587779464
NM_000090.3(COL3A1):c.764G>A (p.Gly255Glu) rs587779605
NM_000090.3(COL3A1):c.764G>T (p.Gly255Val) rs587779605
NM_000090.3(COL3A1):c.766del (p.Ile256fs) rs587779455
NM_000090.3(COL3A1):c.782G>A (p.Gly261Asp) rs587779635
NM_000090.3(COL3A1):c.791G>A (p.Gly264Glu) rs587779604
NM_000090.3(COL3A1):c.798+1G>A (p.Phe268Leufs*10) rs587779463
NM_000090.3(COL3A1):c.799G>A (p.Gly267Ser) rs587779718
NM_000090.3(COL3A1):c.800G>T (p.Gly267Val) rs587779427
NM_000090.3(COL3A1):c.809G>A (p.Gly270Glu) rs587779478
NM_000090.3(COL3A1):c.811C>T (p.Arg271Ter) rs1057521106
NM_000090.3(COL3A1):c.81del (p.Val28fs) rs1060500200
NM_000090.3(COL3A1):c.826G>A (p.Gly276Ser)
NM_000090.3(COL3A1):c.827G>A (p.Gly276Asp) rs587779644
NM_000090.3(COL3A1):c.836G>A (p.Gly279Asp) rs587779593
NM_000090.3(COL3A1):c.844G>A (p.Gly282Arg) rs587779531
NM_000090.3(COL3A1):c.845G>T (p.Gly282Val)
NM_000090.3(COL3A1):c.889G>A (p.Gly297Arg) rs1553507557
NM_000090.3(COL3A1):c.898-1G>C (p.Gly300_Ala317del) rs587779556
NM_000090.3(COL3A1):c.898G>C (p.Gly300Arg) rs587779481
NM_000090.3(COL3A1):c.899G>A (p.Gly300Asp) rs587779440
NM_000090.3(COL3A1):c.899G>T (p.Gly300Val) rs587779440
NM_000090.3(COL3A1):c.907G>A (p.Gly303Arg) rs121912919
NM_000090.3(COL3A1):c.926G>A (p.Gly309Glu) rs113871730
NM_000090.3(COL3A1):c.937_938dup (p.Pro314fs)
NM_000090.3(COL3A1):c.944G>C (p.Gly315Ala) rs587779487
NM_000090.3(COL3A1):c.951+1G>A (p.Gly300_Ala317del) rs587779652
NM_000090.3(COL3A1):c.951+2T>A (p.Gly300_Ala317del) rs587779426
NM_000090.3(COL3A1):c.951+2T>C (p.Gly300_Ala317del) rs587779426
NM_000090.3(COL3A1):c.951+3G>T (p.Gly300_Ala317del) rs587779452
NM_000090.3(COL3A1):c.951+4A>T (p.Gly300_Ala317del) rs587779598
NM_000090.3(COL3A1):c.951+4_951+5del rs1559055162
NM_000090.3(COL3A1):c.951+5G>A (p.Gly300_Ala317del) rs587779422
NM_000090.3(COL3A1):c.951+6T>A (p.Gly300_Ala317del) rs587779423
NM_000090.3(COL3A1):c.951+6T>C (p.Gly300_Ala317del) rs587779423
NM_000090.3(COL3A1):c.951_951+14del (p.Gly300_Ala317del) rs587779425
NM_000090.3(COL3A1):c.953G>A (p.Gly318Asp) rs1553507614
NM_000090.3(COL3A1):c.955_974delinsTTTACATCGAGGGTTTTAAAGTTTACA (p.Ala319fs) rs587779655
NM_000090.3(COL3A1):c.962G>A (p.Gly321Asp) rs587779588
NM_000090.3(COL3A1):c.962G>T (p.Gly321Val) rs587779588
NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000090.3(COL3A1):c.976C>T (p.Arg326Ter) rs587779607
NM_000090.3(COL3A1):c.996+1G>A (p.Gly318_Pro332del) rs587779516
NM_000090.3(COL3A1):c.996+2T>A (p.Gly318_Pro332del) rs587779649
NM_000090.3(COL3A1):c.997-10A>G (p.Pro332_Gly333insFFQ) rs587779670
NM_000090.3(COL3A1):c.997-1G>C (p.Gly333_Lys350del+) rs587779687
NM_000090.3(COL3A1):c.997-2A>G (p.Gly333_Lys350del+) rs587779602
NM_000090.3(COL3A1):c.998G>A (p.Gly333Asp) rs587779673
NM_000090.3(COL3A1):c.[1786C>T;3851G>A]
NM_000090.3(COL3A1):c.[=/3426_3452del27];[=/3440_3466del27]
NM_000093.4(COL5A1):c.1720-136_1929del
NM_000093.4(COL5A1):c.2389delG rs1564453833
NM_000093.4(COL5A1):c.3259_3366del (p.Ser1088_Gly1123del)
NM_000093.4(COL5A1):c.3746delG rs35002351
NM_000093.4(COL5A1):c.4232delG rs1060502259
NM_000093.4(COL5A1):c.4339-1delG rs786205102
NM_000302.3(PLOD1):c.1756_1902del
NM_000302.4(PLOD1):c.1015C>T (p.Gln339Ter)
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552
NM_000302.4(PLOD1):c.1594_1596del (p.Glu532del) rs797044446
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000302.4(PLOD1):c.1651-2del rs797044447
NM_000302.4(PLOD1):c.1795del (p.Ile599fs) rs1557500194
NM_000302.4(PLOD1):c.1836G>C (p.Trp612Cys) rs121913553
NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter)
NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter) rs121913554
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000302.4(PLOD1):c.327del (p.Arg111fs) rs886042976
NM_000302.4(PLOD1):c.579+1G>A rs797044448
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter) rs121913550
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter) rs1224538282
NM_000393.5(COL5A2):c.1617+4A>G rs1553515517
NM_000393.5(COL5A2):c.1924-2_1928del rs786205103
NM_000393.5(COL5A2):c.1924-4C>G rs1559085578
NM_000393.5(COL5A2):c.2031+1G>T rs786205104
NM_000393.5(COL5A2):c.2553+2del rs1553514506
NM_000393.5(COL5A2):c.3148-2A>G rs1553513971
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg) rs121912930
NM_000393.5(COL5A2):c.4298del (p.Ile1433fs) rs1553512393
NM_000393.5(COL5A2):c.690+5G>T
NM_000477.5(ALB):c.71G>A (p.Arg24Gln) rs74821926
NM_001110556.2(FLNA):c.1065G>A (p.Lys355=) rs1557179325
NM_001110556.2(FLNA):c.116C>G (p.Ala39Gly) rs137853313
NM_001110556.2(FLNA):c.1430-1G>T rs786205177
NM_001110556.2(FLNA):c.1829-2A>G rs786205183
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) rs80338841
NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe) rs137853311
NM_001110556.2(FLNA):c.2280+389T>A rs1557178535
NM_001110556.2(FLNA):c.2452del (p.Ala818fs)
NM_001110556.2(FLNA):c.245A>T (p.Glu82Val) rs28935169
NM_001110556.2(FLNA):c.2565+1G>A
NM_001110556.2(FLNA):c.2565+1G>C rs786205186
NM_001110556.2(FLNA):c.2762del (p.Arg921fs) rs1569551736
NM_001110556.2(FLNA):c.287_291del (p.Arg96fs) rs863223297
NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs)
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) rs1557177738
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312
NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) rs1060500716
NM_001110556.2(FLNA):c.373+1G>A rs863223296
NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) rs1557177636
NM_001110556.2(FLNA):c.383C>T (p.Ala128Val) rs137853315
NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) rs1557177623
NM_001110556.2(FLNA):c.4147del (p.Ala1383fs) rs863223299
NM_001110556.2(FLNA):c.4446_4447dup (p.Leu1483fs) rs398123620
NM_001110556.2(FLNA):c.4450C>T (p.Gln1484Ter) rs1057516198
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044
NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) rs1557177086
NM_001110556.2(FLNA):c.544C>T (p.Gln182Ter) rs137853310
NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) rs1569551502
NM_001110556.2(FLNA):c.5879dup (p.Met1960fs)
NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) rs1060500718
NM_001110556.2(FLNA):c.623-3C>G rs398123622
NM_001110556.2(FLNA):c.6355_6356del (p.Lys2119fs) rs786205201
NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs) rs786205178
NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter) rs1060500717
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) rs1569551861
NM_001110556.2(FLNA):c.6915C>G (p.Tyr2305Ter) rs781910090
NM_001110556.2(FLNA):c.720+2T>C rs863223295
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs)
NM_001110556.2(FLNA):c.7896G>A (p.Trp2632Ter) rs398122812
NM_001110556.2(FLNA):c.82A>G (p.Met28Val) rs1557180226
NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys) rs1557179536
NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) rs1557179357
NM_001128225.3(SLC39A13):c.221G>A (p.Gly74Asp) rs121434363
NM_001129.5(AEBP1):c.1320_1326del (p.Arg440fs) rs1554327284
NM_001129.5(AEBP1):c.1470del (p.Asn490fs) rs1554327449
NM_001129.5(AEBP1):c.1630+1G>A rs369016031
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) rs777647845
NM_001129.5(AEBP1):c.917dup (p.Tyr306Ter) rs1443187318
NM_001278074.1(COL5A1):c.1075G>T (p.Glu359Ter) rs769752636
NM_001278074.1(COL5A1):c.1364del (p.Lys455fs) rs1564418237
NM_001278074.1(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_001278074.1(COL5A1):c.1780C>T (p.Arg594Ter) rs1554792869
NM_001278074.1(COL5A1):c.2034+1G>A rs886042173
NM_001278074.1(COL5A1):c.2143G>T (p.Gly715Ter) rs1060502258
NM_001278074.1(COL5A1):c.2164C>T (p.Gln722Ter) rs1564446117
NM_001278074.1(COL5A1):c.2203dup (p.Gln735fs) rs1057519596
NM_001278074.1(COL5A1):c.226_227AG[1] (p.Arg76fs) rs1060502242
NM_001278074.1(COL5A1):c.2374C>T (p.Arg792Ter) rs121912933
NM_001278074.1(COL5A1):c.2425G>T (p.Glu809Ter)
NM_001278074.1(COL5A1):c.2430+1G>A rs1060502248
NM_001278074.1(COL5A1):c.2565del (p.Gly856fs) rs1564457102
NM_001278074.1(COL5A1):c.2660del (p.Phe887fs)
NM_001278074.1(COL5A1):c.2701-25T>G rs765079080
NM_001278074.1(COL5A1):c.2734C>T (p.Arg912Ter) rs863223478
NM_001278074.1(COL5A1):c.2897del (p.Pro966fs) rs1179967153
NM_001278074.1(COL5A1):c.2952+2_2952+3del
NM_001278074.1(COL5A1):c.297_304dup (p.Ile102fs)
NM_001278074.1(COL5A1):c.2988del (p.Gly997fs) rs764693725
NM_001278074.1(COL5A1):c.2988dup (p.Gly997fs) rs764693725
NM_001278074.1(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs) rs1554803622
NM_001278074.1(COL5A1):c.3309_3325dup (p.Pro1109fs) rs1564471440
NM_001278074.1(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_001278074.1(COL5A1):c.3684del (p.Leu1229fs) rs1564475090
NM_001278074.1(COL5A1):c.3752del (p.Pro1251fs) rs786205100
NM_001278074.1(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_001278074.1(COL5A1):c.3762del (p.Gly1255fs) rs1057518653
NM_001278074.1(COL5A1):c.3805C>T (p.Gln1269Ter) rs1554805142
NM_001278074.1(COL5A1):c.3906+3G>T rs786200922
NM_001278074.1(COL5A1):c.4126dup (p.Ser1376fs) rs1131691820
NM_001278074.1(COL5A1):c.4203del (p.Gly1402fs) rs1060502255
NM_001278074.1(COL5A1):c.4338+1G>A rs1564481053
NM_001278074.1(COL5A1):c.4466G>A (p.Gly1489Glu) rs121912932
NM_001278074.1(COL5A1):c.4545_4549dup (p.Glu1517fs)
NM_001278074.1(COL5A1):c.4656_4660del (p.Pro1553fs) rs1554807812
NM_001278074.1(COL5A1):c.4909del (p.Arg1637fs) rs1564487306
NM_001278074.1(COL5A1):c.4916G>C (p.Cys1639Ser) rs80338764
NM_001278074.1(COL5A1):c.4927C>T (p.Gln1643Ter)
NM_001278074.1(COL5A1):c.494G>A (p.Trp165Ter)
NM_001278074.1(COL5A1):c.5137-11T>A rs183495554
NM_001278074.1(COL5A1):c.5155G>T (p.Glu1719Ter)
NM_001278074.1(COL5A1):c.5299del (p.Leu1767fs) rs1554726279
NM_001278074.1(COL5A1):c.5370+3_5370+6del rs786200923
NM_001278074.1(COL5A1):c.655-2A>G rs786205101
NM_001367624.1(ZNF469):c.10100G>A (p.Cys3367Tyr) rs387907062
NM_001367624.1(ZNF469):c.4258G>T (p.Glu1420Ter) rs387907063
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg) rs1057519577
NM_001733.7(C1R):c.1073G>T (p.Cys358Phe) rs1057518645
NM_001733.7(C1R):c.1092G>C (p.Trp364Cys) rs1057519578
NM_001733.7(C1R):c.1113C>G (p.Cys371Trp) rs1057519579
NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) rs1057519580
NM_001733.7(C1R):c.1303T>C (p.Trp435Arg) rs1060499554
NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp) rs1057519025
NM_001733.7(C1R):c.869A>G (p.Asp290Gly) rs1057518643
NM_001733.7(C1R):c.890G>A (p.Gly297Asp) rs1057519026
NM_001733.7(C1R):c.899T>C (p.Leu300Pro) rs1057515579
NM_001733.7(C1R):c.902G>C (p.Arg301Pro) rs760277934
NM_001733.7(C1R):c.905A>G (p.Tyr302Cys) rs1057519576
NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr) rs1057518646
NM_001733.7(C1R):c.927C>G (p.Cys309Trp) rs769707492
NM_001734.5(C1S):c.880T>C (p.Cys294Arg) rs886040975
NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu) rs886040974
NM_007255.3(B4GALT7):c.122T>C (p.Leu41Pro)
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_007255.3(B4GALT7):c.421C>T (p.Arg141Trp) rs187063864
NM_007255.3(B4GALT7):c.557C>A (p.Ala186Asp) rs121917817
NM_007255.3(B4GALT7):c.617T>C (p.Leu206Pro) rs121917818
NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr) rs753594601
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) rs28937869
NM_013352.4(DSE):c.799A>G (p.Arg267Gly) rs1554227382
NM_013352.4(DSE):c.803C>T (p.Ser268Leu) rs398122361
NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter) rs137853147
NM_014244.5(ADAMTS2):c.3088C>T (p.Arg1030Ter)
NM_014244.5(ADAMTS2):c.32del (p.Leu11fs)
NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter) rs137853146
NM_017946.3(FKBP14):c.143T>A (p.Met48Lys)
NM_017946.3(FKBP14):c.156T>A (p.Tyr52Ter) rs1562840744
NM_017946.3(FKBP14):c.197+5_197+8del rs747353360
NM_017946.3(FKBP14):c.34_35delCT
NM_017946.3(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_017946.3(FKBP14):c.42_60del (p.Val14_Thr15insTer) rs770271683
NM_017946.3(FKBP14):c.573_575del rs1430849353
NM_018699.3(PRDM5):c.1768C>T (p.Arg590Ter) rs387907110
NM_018699.3(PRDM5):c.320A>G (p.Tyr107Cys) rs387907111
NM_018699.3(PRDM5):c.93+1G>A
NM_018699.3(PRDM5):c.93+2T>C
NM_018699.3(PRDM5):c.946_1623del
NM_018699.3(PRDM5):c.974del (p.Cys325fs)
NM_080605.4(B3GALT6):c.16C>T (p.Arg6Trp) rs397514722
NM_080605.4(B3GALT6):c.353del (p.Asp118fs) rs750088530
NM_080605.4(B3GALT6):c.415_423del (p.Met139_Ala141del) rs786200942
NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys) rs1314046622
NM_080605.4(B3GALT6):c.588del (p.Arg197fs) rs533071750
NM_080605.4(B3GALT6):c.925T>A (p.Ser309Thr) rs397514721
NM_130468.3(CHST14):c.145del (p.Ala48_Val49insTer) rs397518432
NM_130468.3(CHST14):c.205A>T (p.Lys69Ter) rs267606730
NM_130468.3(CHST14):c.453dup (p.Cys152fs) rs1555410747
NM_130468.3(CHST14):c.527_530delinsGACAG (p.Val176fs)
NM_130468.3(CHST14):c.638G>C (p.Arg213Pro) rs121908257
NM_130468.3(CHST14):c.821G>C (p.Arg274Pro) rs397514706
NM_130468.3(CHST14):c.842C>T (p.Pro281Leu) rs267606729
NM_130468.3(CHST14):c.866G>C (p.Cys289Ser) rs267606731
NM_130468.3(CHST14):c.878A>G (p.Tyr293Cys) rs121908258
NM_130468.3(CHST14):c.981_1000dup (p.Glu334fs) rs1555410785
NM_130468.3(CHST14):c.[403C>G;410T>A]
NR_037401.1(MIR3606):n.-6222_685del
SLC39A13, 9-BP DEL, NT483
ZNF469, 1-BP DEL, 9527G

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