ClinVar Miner

List of variants in gene COL6A3 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 520
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HGVS dbSNP
NC_000002.11:g.(?_238267144)_(238269837_?)del
NM_004369.3(COL6A3):c.1006C>T (p.Arg336Trp) rs200720222
NM_004369.3(COL6A3):c.1024G>A (p.Val342Met) rs111402193
NM_004369.3(COL6A3):c.1056C>T (p.Leu352=) rs78365682
NM_004369.3(COL6A3):c.1061G>A (p.Ser354Asn) rs1416475329
NM_004369.3(COL6A3):c.1065C>T (p.Ala355=) rs115155458
NM_004369.3(COL6A3):c.1069C>A (p.Pro357Thr) rs1174559820
NM_004369.3(COL6A3):c.107C>T (p.Ala36Val) rs572020866
NM_004369.3(COL6A3):c.1120G>A (p.Val374Met) rs780353083
NM_004369.3(COL6A3):c.1131C>G (p.Phe377Leu)
NM_004369.3(COL6A3):c.1131C>T (p.Phe377=) rs189772397
NM_004369.3(COL6A3):c.1149C>T (p.Ala383=) rs139016980
NM_004369.3(COL6A3):c.1150G>A (p.Ala384Thr) rs374267444
NM_004369.3(COL6A3):c.1182C>T (p.Thr394=) rs114750216
NM_004369.3(COL6A3):c.1204G>C (p.Val402Leu) rs746277006
NM_004369.3(COL6A3):c.1231C>G (p.Leu411Val) rs113716915
NM_004369.3(COL6A3):c.1264G>A (p.Val422Met) rs114511558
NM_004369.3(COL6A3):c.1292C>T (p.Pro431Leu) rs144746928
NM_004369.3(COL6A3):c.1293G>A (p.Pro431=) rs376912950
NM_004369.3(COL6A3):c.1312+7A>G rs949869773
NM_004369.3(COL6A3):c.1385A>G (p.Asn462Ser) rs200250810
NM_004369.3(COL6A3):c.1389C>T (p.Ala463=) rs112896869
NM_004369.3(COL6A3):c.1471G>C (p.Asp491His) rs112010940
NM_004369.3(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824
NM_004369.3(COL6A3):c.1478T>C (p.Val493Ala) rs116794756
NM_004369.3(COL6A3):c.1538G>A (p.Arg513Gln) rs139498556
NM_004369.3(COL6A3):c.1566C>A (p.Ala522=) rs771948237
NM_004369.3(COL6A3):c.1575G>A (p.Thr525=)
NM_004369.3(COL6A3):c.1613C>T (p.Thr538Met) rs34741387
NM_004369.3(COL6A3):c.1614G>A (p.Thr538=) rs535142787
NM_004369.3(COL6A3):c.1620A>G (p.Ser540=) rs200205650
NM_004369.3(COL6A3):c.1623C>T (p.Ala541=) rs114144694
NM_004369.3(COL6A3):c.1638C>T (p.Ala546=) rs112040282
NM_004369.3(COL6A3):c.1639G>A (p.Glu547Lys) rs1278327904
NM_004369.3(COL6A3):c.1688A>G (p.Asp563Gly) rs112913396
NM_004369.3(COL6A3):c.1699C>T (p.Gln567Ter) rs1559261557
NM_004369.3(COL6A3):c.1727G>A (p.Ser576Asn)
NM_004369.3(COL6A3):c.1735G>A (p.Ala579Thr)
NM_004369.3(COL6A3):c.1740T>G (p.Phe580Leu) rs1553562483
NM_004369.3(COL6A3):c.1761C>T (p.Ala587=) rs34978064
NM_004369.3(COL6A3):c.1785C>G (p.Ile595Met) rs114278376
NM_004369.3(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127
NM_004369.3(COL6A3):c.1791C>A (p.Phe597Leu)
NM_004369.3(COL6A3):c.1791C>T (p.Phe597=) rs76576170
NM_004369.3(COL6A3):c.1826G>A (p.Arg609Gln)
NM_004369.3(COL6A3):c.1833C>T (p.Ala611=) rs368242683
NM_004369.3(COL6A3):c.1867C>T (p.Pro623Ser) rs372022185
NM_004369.3(COL6A3):c.186A>G (p.Leu62=) rs773733833
NM_004369.3(COL6A3):c.1897+1G>T rs1230578718
NM_004369.3(COL6A3):c.1906A>G (p.Asn636Asp)
NM_004369.3(COL6A3):c.1914G>A (p.Arg638=) rs34904623
NM_004369.3(COL6A3):c.1958C>A (p.Thr653Asn)
NM_004369.3(COL6A3):c.1976G>A (p.Arg659His) rs36092870
NM_004369.3(COL6A3):c.1977C>T (p.Arg659=) rs141280228
NM_004369.3(COL6A3):c.2000A>G (p.Asn667Ser)
NM_004369.3(COL6A3):c.2029C>T (p.Arg677Cys) rs137923508
NM_004369.3(COL6A3):c.2030G>A (p.Arg677His) rs35227432
NM_004369.3(COL6A3):c.2066C>T (p.Thr689Met)
NM_004369.3(COL6A3):c.2144C>T (p.Ser715Leu)
NM_004369.3(COL6A3):c.2147G>A (p.Gly716Asp) rs144514259
NM_004369.3(COL6A3):c.2148C>T (p.Gly716=) rs1204913393
NM_004369.3(COL6A3):c.2180A>G (p.Tyr727Cys)
NM_004369.3(COL6A3):c.218A>G (p.Glu73Gly)
NM_004369.3(COL6A3):c.2195C>T (p.Thr732Met)
NM_004369.3(COL6A3):c.2206G>A (p.Gly736Ser) rs150008830
NM_004369.3(COL6A3):c.2219G>A (p.Arg740His) rs529827991
NM_004369.3(COL6A3):c.2231C>T (p.Pro744Leu) rs199504304
NM_004369.3(COL6A3):c.2292C>T (p.Asn764=) rs116066149
NM_004369.3(COL6A3):c.2305G>A (p.Ala769Thr) rs142719863
NM_004369.3(COL6A3):c.2306C>T (p.Ala769Val) rs753966526
NM_004369.3(COL6A3):c.2307G>A (p.Ala769=)
NM_004369.3(COL6A3):c.2342C>T (p.Ala781Val)
NM_004369.3(COL6A3):c.2374A>G (p.Asn792Asp)
NM_004369.3(COL6A3):c.2393T>C (p.Leu798Pro)
NM_004369.3(COL6A3):c.2416C>T (p.Pro806Ser)
NM_004369.3(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945
NM_004369.3(COL6A3):c.2431C>T (p.Gln811Ter)
NM_004369.3(COL6A3):c.2444C>A (p.Pro815His) rs199601240
NM_004369.3(COL6A3):c.2463T>C (p.Ser821=) rs115387170
NM_004369.3(COL6A3):c.2487C>T (p.Leu829=) rs752530417
NM_004369.3(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004369.3(COL6A3):c.2502C>G (p.Ser834Arg) rs767437328
NM_004369.3(COL6A3):c.2506C>T (p.Arg836Ter) rs761796175
NM_004369.3(COL6A3):c.2517G>A (p.Leu839=) rs187237497
NM_004369.3(COL6A3):c.2529C>T (p.Asp843=) rs556079869
NM_004369.3(COL6A3):c.253G>A (p.Gly85Arg)
NM_004369.3(COL6A3):c.2546T>A (p.Val849Glu)
NM_004369.3(COL6A3):c.260C>G (p.Pro87Arg)
NM_004369.3(COL6A3):c.2620C>T (p.Arg874Ter) rs1553561409
NM_004369.3(COL6A3):c.262C>T (p.His88Tyr)
NM_004369.3(COL6A3):c.2666G>A (p.Arg889His)
NM_004369.3(COL6A3):c.2707G>A (p.Val903Met)
NM_004369.3(COL6A3):c.2722A>T (p.Ile908Phe)
NM_004369.3(COL6A3):c.2729C>T (p.Thr910Met)
NM_004369.3(COL6A3):c.2822T>C (p.Leu941Pro)
NM_004369.3(COL6A3):c.2845G>A (p.Ala949Thr)
NM_004369.3(COL6A3):c.2864G>A (p.Arg955His) rs112172548
NM_004369.3(COL6A3):c.2895G>T (p.Gln965His) rs775993027
NM_004369.3(COL6A3):c.289C>T (p.Arg97Cys)
NM_004369.3(COL6A3):c.2908C>G (p.Pro970Ala)
NM_004369.3(COL6A3):c.290G>A (p.Arg97His) rs201249839
NM_004369.3(COL6A3):c.292A>T (p.Thr98Ser) rs76646066
NM_004369.3(COL6A3):c.2958C>G (p.Ile986Met) rs145203676
NM_004369.3(COL6A3):c.2959G>A (p.Val987Met)
NM_004369.3(COL6A3):c.2972C>T (p.Ala991Val) rs202185764
NM_004369.3(COL6A3):c.3009A>T (p.Gly1003=) rs769667715
NM_004369.3(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669
NM_004369.3(COL6A3):c.3054C>T (p.Asn1018=) rs34367758
NM_004369.3(COL6A3):c.3055G>A (p.Gly1019Arg) rs370664069
NM_004369.3(COL6A3):c.3063A>G (p.Pro1021=) rs200098134
NM_004369.3(COL6A3):c.3071-7C>G
NM_004369.3(COL6A3):c.3071-7C>T rs370229367
NM_004369.3(COL6A3):c.3087C>T (p.Asp1029=) rs113066678
NM_004369.3(COL6A3):c.3088G>A (p.Val1030Met) rs116238578
NM_004369.3(COL6A3):c.3117C>T (p.Gly1039=) rs922629653
NM_004369.3(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077
NM_004369.3(COL6A3):c.3164T>A (p.Val1055Glu)
NM_004369.3(COL6A3):c.3169A>T (p.Ser1057Cys) rs1553560705
NM_004369.3(COL6A3):c.3190C>T (p.Arg1064Trp) rs369810455
NM_004369.3(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391
NM_004369.3(COL6A3):c.3199G>A (p.Val1067Met) rs148175795
NM_004369.3(COL6A3):c.3205G>A (p.Val1069Met) rs115297652
NM_004369.3(COL6A3):c.3223C>T (p.Arg1075Trp) rs201962257
NM_004369.3(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521
NM_004369.3(COL6A3):c.3270C>T (p.Asp1090=) rs113781746
NM_004369.3(COL6A3):c.3271G>A (p.Val1091Ile)
NM_004369.3(COL6A3):c.3274G>A (p.Val1092Ile) rs576798969
NM_004369.3(COL6A3):c.3287G>A (p.Arg1096His) rs200860322
NM_004369.3(COL6A3):c.3311C>T (p.Pro1104Leu)
NM_004369.3(COL6A3):c.3319A>G (p.Asn1107Asp)
NM_004369.3(COL6A3):c.3331G>A (p.Ala1111Thr) rs151021451
NM_004369.3(COL6A3):c.3336G>A (p.Leu1112=) rs1553560545
NM_004369.3(COL6A3):c.3357C>G (p.Ile1119Met)
NM_004369.3(COL6A3):c.3371C>T (p.Ala1124Val) rs374447921
NM_004369.3(COL6A3):c.3420G>A (p.Thr1140=) rs35489467
NM_004369.3(COL6A3):c.3424G>A (p.Asp1142Asn) rs777599612
NM_004369.3(COL6A3):c.3445C>T (p.Arg1149Trp) rs113360085
NM_004369.3(COL6A3):c.3446G>A (p.Arg1149Gln) rs36062562
NM_004369.3(COL6A3):c.3456C>T (p.Ser1152=) rs112815265
NM_004369.3(COL6A3):c.3463G>A (p.Val1155Met)
NM_004369.3(COL6A3):c.3498C>A (p.Gly1166=) rs1553560457
NM_004369.3(COL6A3):c.34G>A (p.Val12Ile) rs137910388
NM_004369.3(COL6A3):c.3545C>T (p.Pro1182Leu) rs768064422
NM_004369.3(COL6A3):c.3549C>G (p.Asp1183Glu) rs762240306
NM_004369.3(COL6A3):c.3556G>A (p.Val1186Met)
NM_004369.3(COL6A3):c.3598G>T (p.Val1200Phe) rs779028054
NM_004369.3(COL6A3):c.3651G>T (p.Gln1217His)
NM_004369.3(COL6A3):c.3654G>A (p.Pro1218=) rs778039312
NM_004369.3(COL6A3):c.3664C>T (p.Pro1222Ser) rs1553560314
NM_004369.3(COL6A3):c.3668T>C (p.Leu1223Pro) rs772944531
NM_004369.3(COL6A3):c.3679+5G>T
NM_004369.3(COL6A3):c.3699C>T (p.Asp1233=) rs542411896
NM_004369.3(COL6A3):c.3700G>A (p.Val1234Met)
NM_004369.3(COL6A3):c.3725A>C (p.Gln1242Pro) rs1553559646
NM_004369.3(COL6A3):c.3741G>C (p.Glu1247Asp) rs577927810
NM_004369.3(COL6A3):c.3751G>A (p.Val1251Ile) rs199646208
NM_004369.3(COL6A3):c.3790G>A (p.Val1264Met)
NM_004369.3(COL6A3):c.3809G>A (p.Arg1270Gln) rs1057518127
NM_004369.3(COL6A3):c.3852C>A (p.Phe1284Leu) rs148561729
NM_004369.3(COL6A3):c.3879T>G (p.Asp1293Glu) rs74425496
NM_004369.3(COL6A3):c.3893C>T (p.Ala1298Val)
NM_004369.3(COL6A3):c.3901C>T (p.Arg1301Trp) rs150430813
NM_004369.3(COL6A3):c.3902G>A (p.Arg1301Gln) rs148038440
NM_004369.3(COL6A3):c.3922C>T (p.Arg1308Trp)
NM_004369.3(COL6A3):c.3923G>A (p.Arg1308Gln) rs774461787
NM_004369.3(COL6A3):c.3932A>G (p.Asn1311Ser) rs200592625
NM_004369.3(COL6A3):c.3989G>T (p.Ser1330Ile)
NM_004369.3(COL6A3):c.3991C>A (p.Arg1331Ser)
NM_004369.3(COL6A3):c.4005C>T (p.Gly1335=) rs34503558
NM_004369.3(COL6A3):c.4006G>A (p.Val1336Ile) rs144051775
NM_004369.3(COL6A3):c.4007T>C (p.Val1336Ala)
NM_004369.3(COL6A3):c.4032G>A (p.Ser1344=) rs145048734
NM_004369.3(COL6A3):c.4041G>T (p.Lys1347Asn)
NM_004369.3(COL6A3):c.4048G>A (p.Asp1350Asn)
NM_004369.3(COL6A3):c.4085T>A (p.Phe1362Tyr)
NM_004369.3(COL6A3):c.4090G>A (p.Val1364Met) rs35524572
NM_004369.3(COL6A3):c.4103C>T (p.Thr1368Met) rs116505603
NM_004369.3(COL6A3):c.4104G>A (p.Thr1368=) rs777649526
NM_004369.3(COL6A3):c.4107C>T (p.Ile1369=) rs35114079
NM_004369.3(COL6A3):c.4108G>A (p.Ala1370Thr) rs372234605
NM_004369.3(COL6A3):c.410G>A (p.Arg137Gln) rs779126378
NM_004369.3(COL6A3):c.4110C>T (p.Ala1370=) rs1553559241
NM_004369.3(COL6A3):c.4116C>T (p.Asn1372=) rs369620378
NM_004369.3(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017
NM_004369.3(COL6A3):c.413C>T (p.Ala138Val) rs1167973119
NM_004369.3(COL6A3):c.4145C>T (p.Ser1382Leu)
NM_004369.3(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501
NM_004369.3(COL6A3):c.4169C>T (p.Ser1390Leu) rs115548605
NM_004369.3(COL6A3):c.4183C>T (p.Arg1395Trp) rs73998894
NM_004369.3(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723
NM_004369.3(COL6A3):c.4217C>T (p.Thr1406Met) rs114061998
NM_004369.3(COL6A3):c.4240G>C (p.Glu1414Gln) rs539986030
NM_004369.3(COL6A3):c.4270C>T (p.Arg1424Cys) rs768522226
NM_004369.3(COL6A3):c.4271G>A (p.Arg1424His) rs149838946
NM_004369.3(COL6A3):c.4285+9G>A rs75780727
NM_004369.3(COL6A3):c.4306G>C (p.Asp1436His) rs1168273415
NM_004369.3(COL6A3):c.4309A>T (p.Ile1437Phe) rs144314743
NM_004369.3(COL6A3):c.4318C>G (p.Leu1440Val)
NM_004369.3(COL6A3):c.4324G>A (p.Asp1442Asn) rs772700553
NM_004369.3(COL6A3):c.4399A>G (p.Asn1467Asp) rs138049094
NM_004369.3(COL6A3):c.439G>A (p.Val147Ile)
NM_004369.3(COL6A3):c.4431C>T (p.Val1477=) rs151289203
NM_004369.3(COL6A3):c.4432G>A (p.Val1478Met) rs374493032
NM_004369.3(COL6A3):c.4436A>T (p.Gln1479Leu) rs369449472
NM_004369.3(COL6A3):c.4503C>A (p.Asp1501Glu)
NM_004369.3(COL6A3):c.4503C>T (p.Asp1501=) rs115551245
NM_004369.3(COL6A3):c.4510C>A (p.Arg1504=) rs144223596
NM_004369.3(COL6A3):c.4510C>T (p.Arg1504Trp) rs144223596
NM_004369.3(COL6A3):c.4534T>A (p.Ser1512Thr) rs1553557796
NM_004369.3(COL6A3):c.4604G>A (p.Arg1535His)
NM_004369.3(COL6A3):c.460T>A (p.Ser154Thr) rs1559279425
NM_004369.3(COL6A3):c.4617G>A (p.Gly1539=) rs1420997887
NM_004369.3(COL6A3):c.461C>T (p.Ser154Leu) rs147701785
NM_004369.3(COL6A3):c.4671C>T (p.Ser1557=) rs116760648
NM_004369.3(COL6A3):c.4677C>T (p.Phe1559=) rs147215386
NM_004369.3(COL6A3):c.4678G>A (p.Ala1560Thr) rs371631320
NM_004369.3(COL6A3):c.4683G>A (p.Gln1561=) rs113074898
NM_004369.3(COL6A3):c.4684G>T (p.Val1562Leu) rs1553557605
NM_004369.3(COL6A3):c.4691G>A (p.Arg1564His) rs368151192
NM_004369.3(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839
NM_004369.3(COL6A3):c.4729A>G (p.Asn1577Asp) rs1559239453
NM_004369.3(COL6A3):c.4742C>G (p.Thr1581Arg) rs1156524068
NM_004369.3(COL6A3):c.4765G>A (p.Asp1589Asn)
NM_004369.3(COL6A3):c.4787T>C (p.Val1596Ala) rs1559239279
NM_004369.3(COL6A3):c.4817A>T (p.Glu1606Val)
NM_004369.3(COL6A3):c.4849G>A (p.Ala1617Thr) rs200433282
NM_004369.3(COL6A3):c.4873G>T (p.Val1625Leu) rs398124121
NM_004369.3(COL6A3):c.4888C>T (p.Pro1630Ser) rs145560772
NM_004369.3(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885
NM_004369.3(COL6A3):c.489G>A (p.Ala163=) rs148970984
NM_004369.3(COL6A3):c.4900+9C>T rs117345850
NM_004369.3(COL6A3):c.4917C>G (p.Asp1639Glu) rs1553556773
NM_004369.3(COL6A3):c.4922T>A (p.Val1641Glu) rs1559237565
NM_004369.3(COL6A3):c.4950C>G (p.Phe1650Leu)
NM_004369.3(COL6A3):c.4994T>C (p.Ile1665Thr) rs1034783532
NM_004369.3(COL6A3):c.5019C>T (p.Gly1673=) rs140516220
NM_004369.3(COL6A3):c.5059C>T (p.Pro1687Ser) rs35273032
NM_004369.3(COL6A3):c.5068G>A (p.Glu1690Lys) rs144451523
NM_004369.3(COL6A3):c.5095A>C (p.Lys1699Gln) rs1311406995
NM_004369.3(COL6A3):c.5100G>A (p.Arg1700=) rs34340053
NM_004369.3(COL6A3):c.5128G>A (p.Val1710Ile) rs773631759
NM_004369.3(COL6A3):c.5139G>A (p.Gly1713=) rs114338020
NM_004369.3(COL6A3):c.5165G>A (p.Gly1722Asp) rs1553556546
NM_004369.3(COL6A3):c.5179C>T (p.Arg1727Trp) rs143074017
NM_004369.3(COL6A3):c.5180G>A (p.Arg1727Gln)
NM_004369.3(COL6A3):c.5222A>T (p.Gln1741Leu)
NM_004369.3(COL6A3):c.5224C>T (p.Arg1742Trp)
NM_004369.3(COL6A3):c.5244T>A (p.Phe1748Leu)
NM_004369.3(COL6A3):c.5252C>T (p.Thr1751Met) rs201147199
NM_004369.3(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596
NM_004369.3(COL6A3):c.5308G>C (p.Gly1770Arg)
NM_004369.3(COL6A3):c.5326G>T (p.Val1776Phe) rs754788931
NM_004369.3(COL6A3):c.5341A>G (p.Ile1781Val) rs145447965
NM_004369.3(COL6A3):c.5348C>T (p.Ser1783Leu) rs1271500443
NM_004369.3(COL6A3):c.5369C>T (p.Ala1790Val)
NM_004369.3(COL6A3):c.5387C>T (p.Ala1796Val)
NM_004369.3(COL6A3):c.5393G>A (p.Arg1798His) rs371441617
NM_004369.3(COL6A3):c.5394C>T (p.Arg1798=) rs202086524
NM_004369.3(COL6A3):c.5419G>A (p.Glu1807Lys)
NM_004369.3(COL6A3):c.5470C>T (p.Leu1824Phe) rs114131542
NM_004369.3(COL6A3):c.5480del (p.Gly1827fs) rs777304794
NM_004369.3(COL6A3):c.5504G>C (p.Cys1835Ser) rs1559235332
NM_004369.3(COL6A3):c.550G>A (p.Ala184Thr) rs767499336
NM_004369.3(COL6A3):c.5534G>C (p.Gly1845Ala) rs747200439
NM_004369.3(COL6A3):c.5552T>C (p.Val1851Ala) rs1559235183
NM_004369.3(COL6A3):c.5609G>A (p.Ser1870Asn) rs114804083
NM_004369.3(COL6A3):c.5619C>T (p.His1873=) rs146355600
NM_004369.3(COL6A3):c.5635G>A (p.Gly1879Ser) rs760603443
NM_004369.3(COL6A3):c.5646G>T (p.Ser1882=) rs886055807
NM_004369.3(COL6A3):c.5652C>T (p.Thr1884=) rs200285455
NM_004369.3(COL6A3):c.5657G>A (p.Arg1886His) rs368379003
NM_004369.3(COL6A3):c.5678C>T (p.Thr1893Met)
NM_004369.3(COL6A3):c.5680C>T (p.Pro1894Ser) rs112540218
NM_004369.3(COL6A3):c.5681C>T (p.Pro1894Leu)
NM_004369.3(COL6A3):c.5690C>T (p.Pro1897Leu) rs370806359
NM_004369.3(COL6A3):c.5712C>T (p.Asp1904=) rs151234107
NM_004369.3(COL6A3):c.5734G>A (p.Glu1912Lys) rs113251155
NM_004369.3(COL6A3):c.5743C>T (p.Arg1915Trp) rs201938007
NM_004369.3(COL6A3):c.5752C>A (p.Arg1918Ser) rs750367811
NM_004369.3(COL6A3):c.5768A>G (p.Tyr1923Cys)
NM_004369.3(COL6A3):c.576G>A (p.Pro192=) rs141560881
NM_004369.3(COL6A3):c.576G>T (p.Pro192=) rs141560881
NM_004369.3(COL6A3):c.5770G>A (p.Val1924Ile) rs778162038
NM_004369.3(COL6A3):c.5794G>A (p.Val1932Ile) rs113817270
NM_004369.3(COL6A3):c.5804A>G (p.Asn1935Ser)
NM_004369.3(COL6A3):c.581A>G (p.Asn194Ser)
NM_004369.3(COL6A3):c.5820C>T (p.Ser1940=) rs113542401
NM_004369.3(COL6A3):c.5833G>C (p.Val1945Leu) rs113332380
NM_004369.3(COL6A3):c.5838+1G>T rs1559234260
NM_004369.3(COL6A3):c.5838+5G>A rs1553555753
NM_004369.3(COL6A3):c.5839-3C>T rs112825341
NM_004369.3(COL6A3):c.5869G>A (p.Gly1957Arg) rs554219567
NM_004369.3(COL6A3):c.5877G>C (p.Leu1959=) rs752905591
NM_004369.3(COL6A3):c.5909G>A (p.Arg1970His) rs368635334
NM_004369.3(COL6A3):c.5953G>A (p.Val1985Met) rs200478135
NM_004369.3(COL6A3):c.5968C>T (p.Arg1990Trp) rs146546544
NM_004369.3(COL6A3):c.5977C>T (p.His1993Tyr) rs1559231403
NM_004369.3(COL6A3):c.6001A>G (p.Met2001Val)
NM_004369.3(COL6A3):c.6054G>A (p.Ala2018=)
NM_004369.3(COL6A3):c.6064-6C>T rs202091342
NM_004369.3(COL6A3):c.6068A>G (p.Asn2023Ser)
NM_004369.3(COL6A3):c.6086G>A (p.Cys2029Tyr)
NM_004369.3(COL6A3):c.6094G>T (p.Val2032Phe) rs1316305394
NM_004369.3(COL6A3):c.6105G>A (p.Lys2035=) rs35556524
NM_004369.3(COL6A3):c.6117G>C (p.Gln2039His) rs750063736
NM_004369.3(COL6A3):c.611C>A (p.Thr204Asn)
NM_004369.3(COL6A3):c.6129C>T (p.Arg2043=) rs576524993
NM_004369.3(COL6A3):c.6130G>A (p.Gly2044Arg) rs1559229322
NM_004369.3(COL6A3):c.6138C>T (p.Ile2046=) rs115401779
NM_004369.3(COL6A3):c.6156+4C>T rs111228504
NM_004369.3(COL6A3):c.6167G>A (p.Gly2056Glu) rs1064795558
NM_004369.3(COL6A3):c.6182G>A (p.Arg2061Gln) rs376715966
NM_004369.3(COL6A3):c.6193G>C (p.Gly2065Arg) rs397515332
NM_004369.3(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.3(COL6A3):c.6201G>C (p.Glu2067Asp)
NM_004369.3(COL6A3):c.6210+1G>A rs398124126
NM_004369.3(COL6A3):c.6210C>T (p.Pro2070=) rs774374140
NM_004369.3(COL6A3):c.6211-3C>T rs139622600
NM_004369.3(COL6A3):c.6211-4A>G rs398124127
NM_004369.3(COL6A3):c.6212G>A (p.Gly2071Asp) rs886043737
NM_004369.3(COL6A3):c.6212_6309+28del rs1553553313
NM_004369.3(COL6A3):c.6220G>A (p.Gly2074Ser) rs886044252
NM_004369.3(COL6A3):c.6224C>T (p.Pro2075Leu)
NM_004369.3(COL6A3):c.6230G>A (p.Gly2077Asp) rs1553553646
NM_004369.3(COL6A3):c.6230G>T (p.Gly2077Val) rs1553553646
NM_004369.3(COL6A3):c.6237C>T (p.Asn2079=) rs34390834
NM_004369.3(COL6A3):c.6239G>A (p.Gly2080Asp) rs794727188
NM_004369.3(COL6A3):c.6239G>T (p.Gly2080Val)
NM_004369.3(COL6A3):c.6242C>G (p.Thr2081Ser) rs1364892747
NM_004369.3(COL6A3):c.624C>T (p.Asp208=) rs757316338
NM_004369.3(COL6A3):c.6263C>T (p.Pro2088Leu)
NM_004369.3(COL6A3):c.6289C>T (p.Arg2097Trp) rs148252611
NM_004369.3(COL6A3):c.6308A>G (p.Lys2103Arg)
NM_004369.3(COL6A3):c.6309+1G>A
NM_004369.3(COL6A3):c.6309G>A (p.Lys2103=)
NM_004369.3(COL6A3):c.6310-2A>G rs1559225993
NM_004369.3(COL6A3):c.6354+1G>A rs886042883
NM_004369.3(COL6A3):c.6356G>A (p.Gly2119Glu)
NM_004369.3(COL6A3):c.6372T>C (p.Pro2124=) rs894679602
NM_004369.3(COL6A3):c.6422C>A (p.Pro2141His) rs369169235
NM_004369.3(COL6A3):c.6443G>A (p.Arg2148Lys)
NM_004369.3(COL6A3):c.6451G>C (p.Val2151Leu) rs768565928
NM_004369.3(COL6A3):c.6452T>C (p.Val2151Ala)
NM_004369.3(COL6A3):c.6528C>T (p.Leu2176=) rs560225578
NM_004369.3(COL6A3):c.6591+5G>A
NM_004369.3(COL6A3):c.6592G>A (p.Gly2198Ser) rs1257553370
NM_004369.3(COL6A3):c.6613C>A (p.Pro2205Thr) rs748768672
NM_004369.3(COL6A3):c.6618C>T (p.Pro2206=) rs201814201
NM_004369.3(COL6A3):c.661G>A (p.Val221Met)
NM_004369.3(COL6A3):c.6640G>A (p.Gly2214Ser) rs777454204
NM_004369.3(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715
NM_004369.3(COL6A3):c.6654G>T (p.Pro2218=) rs147537071
NM_004369.3(COL6A3):c.6677C>T (p.Thr2226Ile) rs376621780
NM_004369.3(COL6A3):c.6715C>G (p.Pro2239Ala)
NM_004369.3(COL6A3):c.6730G>C (p.Glu2244Gln)
NM_004369.3(COL6A3):c.6749C>T (p.Pro2250Leu) rs140728855
NM_004369.3(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555
NM_004369.3(COL6A3):c.6769G>A (p.Ala2257Thr) rs372154635
NM_004369.3(COL6A3):c.6799G>A (p.Gly2267Ser) rs749855513
NM_004369.3(COL6A3):c.6832C>A (p.Pro2278Thr)
NM_004369.3(COL6A3):c.6853G>A (p.Gly2285Arg) rs1268762655
NM_004369.3(COL6A3):c.6868C>T (p.Arg2290Cys) rs116608946
NM_004369.3(COL6A3):c.686C>T (p.Thr229Met) rs141586922
NM_004369.3(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222
NM_004369.3(COL6A3):c.6899G>A (p.Gly2300Glu) rs145572916
NM_004369.3(COL6A3):c.6902T>C (p.Val2301Ala)
NM_004369.3(COL6A3):c.6920G>C (p.Arg2307Thr) rs778845754
NM_004369.3(COL6A3):c.6930+4C>T rs375657891
NM_004369.3(COL6A3):c.6956C>T (p.Pro2319Leu) rs751617505
NM_004369.3(COL6A3):c.6966+4A>C rs373940717
NM_004369.3(COL6A3):c.6972C>T (p.Asn2324=) rs113961575
NM_004369.3(COL6A3):c.6981A>G (p.Glu2327=) rs35993209
NM_004369.3(COL6A3):c.6982C>A (p.Pro2328Thr) rs371637449
NM_004369.3(COL6A3):c.7007C>T (p.Pro2336Leu) rs202092407
NM_004369.3(COL6A3):c.707C>T (p.Thr236Ile) rs886044270
NM_004369.3(COL6A3):c.7086A>C (p.Gly2362=) rs35902696
NM_004369.3(COL6A3):c.709G>A (p.Ala237Thr) rs1553564820
NM_004369.3(COL6A3):c.7103G>A (p.Gly2368Asp) rs746420745
NM_004369.3(COL6A3):c.7107C>T (p.Asn2369=) rs1410340783
NM_004369.3(COL6A3):c.7113C>T (p.Gly2371=) rs375729592
NM_004369.3(COL6A3):c.7114G>A (p.Asp2372Asn) rs142002241
NM_004369.3(COL6A3):c.7173C>T (p.Tyr2391=) rs114248590
NM_004369.3(COL6A3):c.7175-6C>G rs199723531
NM_004369.3(COL6A3):c.7192G>A (p.Val2398Ile)
NM_004369.3(COL6A3):c.7212C>T (p.Ala2404=) rs1162382032
NM_004369.3(COL6A3):c.7256G>C (p.Gly2419Ala) rs1339553173
NM_004369.3(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484
NM_004369.3(COL6A3):c.7266A>C (p.Arg2422=) rs778691629
NM_004369.3(COL6A3):c.7290T>G (p.Asn2430Lys)
NM_004369.3(COL6A3):c.730A>G (p.Ile244Val) rs116729313
NM_004369.3(COL6A3):c.7311C>G (p.Ser2437Arg) rs781087176
NM_004369.3(COL6A3):c.7328C>T (p.Ala2443Val)
NM_004369.3(COL6A3):c.7329C>T (p.Ala2443=) rs10084221
NM_004369.3(COL6A3):c.7331G>C (p.Arg2444Pro) rs895701604
NM_004369.3(COL6A3):c.7356C>G (p.Asn2452Lys)
NM_004369.3(COL6A3):c.7357G>A (p.Glu2453Lys) rs886044364
NM_004369.3(COL6A3):c.7359G>A (p.Glu2453=) rs114199044
NM_004369.3(COL6A3):c.7375C>T (p.Arg2459Trp) rs371066956
NM_004369.3(COL6A3):c.7376G>A (p.Arg2459Gln) rs777496872
NM_004369.3(COL6A3):c.7400C>T (p.Ser2467Leu) rs111803773
NM_004369.3(COL6A3):c.7401G>A (p.Ser2467=) rs377572272
NM_004369.3(COL6A3):c.7402G>A (p.Val2468Ile) rs527516269
NM_004369.3(COL6A3):c.7441A>G (p.Thr2481Ala) rs201467603
NM_004369.3(COL6A3):c.7446C>G (p.Ser2482=) rs1439207088
NM_004369.3(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335
NM_004369.3(COL6A3):c.7475C>T (p.Ser2492Leu) rs754480145
NM_004369.3(COL6A3):c.7509G>A (p.Arg2503=) rs34181055
NM_004369.3(COL6A3):c.7513G>A (p.Gly2505Arg) rs545819982
NM_004369.3(COL6A3):c.7514G>T (p.Gly2505Val) rs794727591
NM_004369.3(COL6A3):c.7551C>T (p.Asn2517=) rs570963533
NM_004369.3(COL6A3):c.7575G>A (p.Gln2525=) rs752232293
NM_004369.3(COL6A3):c.759C>T (p.Thr253=) rs376087730
NM_004369.3(COL6A3):c.7645C>T (p.Arg2549Trp) rs151079701
NM_004369.3(COL6A3):c.764G>A (p.Ser255Asn)
NM_004369.3(COL6A3):c.7660G>A (p.Ala2554Thr) rs786205870
NM_004369.3(COL6A3):c.7668G>T (p.Gln2556His) rs1553547891
NM_004369.3(COL6A3):c.7669-3C>T
NM_004369.3(COL6A3):c.7670T>A (p.Ile2557Asn)
NM_004369.3(COL6A3):c.7685T>C (p.Val2562Ala) rs143631346
NM_004369.3(COL6A3):c.7687G>A (p.Gly2563Arg) rs780964113
NM_004369.3(COL6A3):c.768C>T (p.Val256=) rs79606264
NM_004369.3(COL6A3):c.76C>T (p.Gln26Ter) rs763187844
NM_004369.3(COL6A3):c.7702C>T (p.Leu2568=) rs201479636
NM_004369.3(COL6A3):c.7749G>A (p.Thr2583=) rs758582935
NM_004369.3(COL6A3):c.776C>T (p.Ala259Val) rs149924028
NM_004369.3(COL6A3):c.7779C>T (p.Ile2593=) rs144249704
NM_004369.3(COL6A3):c.7849G>A (p.Asp2617Asn) rs138285547
NM_004369.3(COL6A3):c.786C>T (p.Leu262=) rs111481402
NM_004369.3(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697
NM_004369.3(COL6A3):c.7948G>A (p.Asp2650Asn) rs890268146
NM_004369.3(COL6A3):c.7953G>A (p.Met2651Ile) rs369537287
NM_004369.3(COL6A3):c.7995A>C (p.Ala2665=) rs80193928
NM_004369.3(COL6A3):c.8007C>T (p.His2669=) rs528369978
NM_004369.3(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023
NM_004369.3(COL6A3):c.8010G>A (p.Ala2670=) rs79313758
NM_004369.3(COL6A3):c.8045C>T (p.Pro2682Leu)
NM_004369.3(COL6A3):c.8137A>G (p.Arg2713Gly) rs772602377
NM_004369.3(COL6A3):c.8145A>G (p.Leu2715=) rs35763271
NM_004369.3(COL6A3):c.8168T>C (p.Ile2723Thr) rs373108028
NM_004369.3(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455
NM_004369.3(COL6A3):c.8193A>C (p.Pro2731=) rs140441798
NM_004369.3(COL6A3):c.8201G>A (p.Arg2734Gln) rs115116398
NM_004369.3(COL6A3):c.8243C>T (p.Pro2748Leu) rs115595706
NM_004369.3(COL6A3):c.8257G>A (p.Glu2753Lys)
NM_004369.3(COL6A3):c.8308G>A (p.Val2770Met) rs886044644
NM_004369.3(COL6A3):c.8346G>A (p.Glu2782=) rs35911211
NM_004369.3(COL6A3):c.8359G>A (p.Ala2787Thr) rs763395740
NM_004369.3(COL6A3):c.8416G>A (p.Glu2806Lys)
NM_004369.3(COL6A3):c.8437G>A (p.Gly2813Arg) rs146131332
NM_004369.3(COL6A3):c.8440A>T (p.Arg2814Trp) rs1553546042
NM_004369.3(COL6A3):c.8457C>T (p.Phe2819=) rs138683303
NM_004369.3(COL6A3):c.8458G>A (p.Val2820Ile) rs115171119
NM_004369.3(COL6A3):c.8522G>A (p.Gly2841Glu)
NM_004369.3(COL6A3):c.8572G>A (p.Val2858Ile) rs111859552
NM_004369.3(COL6A3):c.8615C>T (p.Thr2872Met) rs759009226
NM_004369.3(COL6A3):c.861C>T (p.Ser287=) rs756380512
NM_004369.3(COL6A3):c.8621C>T (p.Thr2874Met) rs779335085
NM_004369.3(COL6A3):c.8627C>T (p.Pro2876Leu)
NM_004369.3(COL6A3):c.862G>A (p.Asp288Asn) rs115729513
NM_004369.3(COL6A3):c.8632A>G (p.Thr2878Ala) rs761653490
NM_004369.3(COL6A3):c.8634_8651del (p.2875_2880KPVTTT[1]) rs780678900
NM_004369.3(COL6A3):c.8636C>T (p.Thr2879Met) rs150907698
NM_004369.3(COL6A3):c.8644C>T (p.Pro2882Ser) rs1553544899
NM_004369.3(COL6A3):c.8645C>T (p.Pro2882Leu)
NM_004369.3(COL6A3):c.8724C>T (p.Ala2908=) rs114684687
NM_004369.3(COL6A3):c.8735C>T (p.Pro2912Leu) rs112928650
NM_004369.3(COL6A3):c.8744C>T (p.Ala2915Val) rs751532649
NM_004369.3(COL6A3):c.8745G>A (p.Ala2915=) rs112382351
NM_004369.3(COL6A3):c.8750C>A (p.Pro2917His) rs1559194476
NM_004369.3(COL6A3):c.8754G>A (p.Val2918=)
NM_004369.3(COL6A3):c.8759C>A (p.Ala2920Asp)
NM_004369.3(COL6A3):c.878T>C (p.Met293Thr) rs1361910233
NM_004369.3(COL6A3):c.8804C>A (p.Ala2935Glu)
NM_004369.3(COL6A3):c.8804C>T (p.Ala2935Val) rs36020669
NM_004369.3(COL6A3):c.8819C>T (p.Thr2940Met) rs200626456
NM_004369.3(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206
NM_004369.3(COL6A3):c.882C>T (p.Phe294=) rs7561625
NM_004369.3(COL6A3):c.8846C>T (p.Pro2949Leu) rs376021820
NM_004369.3(COL6A3):c.8861C>T (p.Pro2954Leu)
NM_004369.3(COL6A3):c.8966-1G>C rs767517186
NM_004369.3(COL6A3):c.8966-3C>A rs190667494
NM_004369.3(COL6A3):c.8970G>A (p.Lys2990=) rs113721676
NM_004369.3(COL6A3):c.8977C>T (p.Arg2993Cys)
NM_004369.3(COL6A3):c.8978G>A (p.Arg2993His) rs201888442
NM_004369.3(COL6A3):c.9017A>G (p.Lys3006Arg) rs2270668
NM_004369.3(COL6A3):c.9041C>T (p.Pro3014Leu) rs758774990
NM_004369.3(COL6A3):c.9045C>T (p.Pro3015=) rs144834964
NM_004369.3(COL6A3):c.9059A>G (p.Tyr3020Cys)
NM_004369.3(COL6A3):c.9061_9063del (p.Asp3021del) rs756150789
NM_004369.3(COL6A3):c.9069C>T (p.Thr3023=) rs111234422
NM_004369.3(COL6A3):c.9087T>A (p.Asp3029Glu) rs1553544136
NM_004369.3(COL6A3):c.9116C>T (p.Thr3039Met) rs116655315
NM_004369.3(COL6A3):c.9123G>A (p.Thr3041=) rs61729843
NM_004369.3(COL6A3):c.9128G>A (p.Arg3043His) rs552651651
NM_004369.3(COL6A3):c.9129C>T (p.Arg3043=) rs10201909
NM_004369.3(COL6A3):c.9148G>A (p.Ala3050Thr) rs114596320
NM_004369.3(COL6A3):c.9209A>G (p.Tyr3070Cys) rs368568929
NM_004369.3(COL6A3):c.9229+4A>C
NM_004369.3(COL6A3):c.9245C>G (p.Pro3082Arg) rs182976977
NM_004369.3(COL6A3):c.9250C>T (p.Pro3084Ser) rs1468004640
NM_004369.3(COL6A3):c.9344C>T (p.Pro3115Leu) rs138109666
NM_004369.3(COL6A3):c.9351C>T (p.Asp3117=) rs148821986
NM_004369.3(COL6A3):c.9358A>C (p.Thr3120Pro) rs141050617
NM_004369.3(COL6A3):c.936C>T (p.Leu312=) rs377629176
NM_004369.3(COL6A3):c.9374T>C (p.Ile3125Thr) rs1385929254
NM_004369.3(COL6A3):c.9380A>G (p.Lys3127Arg)
NM_004369.3(COL6A3):c.9407G>A (p.Ser3136Asn) rs759514583
NM_004369.3(COL6A3):c.9411T>C (p.Cys3137=) rs112290343
NM_004369.3(COL6A3):c.9451A>G (p.Lys3151Glu) rs371468515
NM_004369.3(COL6A3):c.9487G>A (p.Ala3163Thr) rs553486570
NM_004369.3(COL6A3):c.9494-2A>G
NM_004369.3(COL6A3):c.9498C>T (p.Leu3166=) rs150376179
NM_004369.3(COL6A3):c.9508G>A (p.Gly3170Arg) rs568632361
NM_004369.3(COL6A3):c.958G>A (p.Ala320Thr) rs115819851
NM_004369.3(COL6A3):c.984C>T (p.Phe328=) rs768609958
NM_004369.3(COL6A3):c.98A>G (p.Lys33Arg)
NM_057164.5(COL6A3):c.92-6497_92-6495del rs554176183
NM_057166.5(COL6A3):c.4489-28_4504del rs1553553267
NM_057166.5(COL6A3):c.6644-7del rs111494366
Single allele

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