ClinVar Miner

List of variants in gene COL6A3 reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 316
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HGVS dbSNP
NM_004369.3(COL6A3):c.1006C>T (p.Arg336Trp) rs200720222
NM_004369.3(COL6A3):c.1061G>A (p.Ser354Asn) rs1416475329
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.1150G>A (p.Ala384Thr) rs374267444
NM_004369.3(COL6A3):c.1204G>C (p.Val402Leu) rs746277006
NM_004369.3(COL6A3):c.1292C>T (p.Pro431Leu) rs144746928
NM_004369.3(COL6A3):c.1385A>G (p.Asn462Ser) rs200250810
NM_004369.3(COL6A3):c.1538G>A (p.Arg513Gln) rs139498556
NM_004369.3(COL6A3):c.1575G>A (p.Thr525=)
NM_004369.3(COL6A3):c.1639G>A (p.Glu547Lys) rs1278327904
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.1785C>G (p.Ile595Met) rs114278376
NM_004369.3(COL6A3):c.1791C>A (p.Phe597Leu)
NM_004369.3(COL6A3):c.1826G>A (p.Arg609Gln)
NM_004369.3(COL6A3):c.1867C>T (p.Pro623Ser) rs372022185
NM_004369.3(COL6A3):c.1906A>G (p.Asn636Asp)
NM_004369.3(COL6A3):c.1958C>A (p.Thr653Asn)
NM_004369.3(COL6A3):c.2000A>G (p.Asn667Ser)
NM_004369.3(COL6A3):c.2029C>T (p.Arg677Cys) rs137923508
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.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.2444C>A (p.Pro815His) rs199601240
NM_004369.3(COL6A3):c.2502C>G (p.Ser834Arg) rs767437328
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.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.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.3040A>G (p.Lys1014Glu) rs114284669
NM_004369.3(COL6A3):c.3055G>A (p.Gly1019Arg) rs370664069
NM_004369.3(COL6A3):c.3071-7C>G
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.3199G>A (p.Val1067Met) rs148175795
NM_004369.3(COL6A3):c.3223C>T (p.Arg1075Trp) rs201962257
NM_004369.3(COL6A3):c.3271G>A (p.Val1091Ile)
NM_004369.3(COL6A3):c.3274G>A (p.Val1092Ile) rs576798969
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.3424G>A (p.Asp1142Asn) rs777599612
NM_004369.3(COL6A3):c.3445C>T (p.Arg1149Trp) rs113360085
NM_004369.3(COL6A3):c.3463G>A (p.Val1155Met)
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.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.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.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.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.4007T>C (p.Val1336Ala)
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.4103C>T (p.Thr1368Met) rs116505603
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.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.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.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.439G>A (p.Val147Ile)
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.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.461C>T (p.Ser154Leu) rs147701785
NM_004369.3(COL6A3):c.4678G>A (p.Ala1560Thr) rs371631320
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.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.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.5068G>A (p.Glu1690Lys) rs144451523
NM_004369.3(COL6A3):c.5095A>C (p.Lys1699Gln) rs1311406995
NM_004369.3(COL6A3):c.5128G>A (p.Val1710Ile) rs773631759
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.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.5419G>A (p.Glu1807Lys)
NM_004369.3(COL6A3):c.5470C>T (p.Leu1824Phe) rs114131542
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.5635G>A (p.Gly1879Ser) rs760603443
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.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.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.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.5909G>A (p.Arg1970His) rs368635334
NM_004369.3(COL6A3):c.5953G>A (p.Val1985Met) rs200478135
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.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.6117G>C (p.Gln2039His) rs750063736
NM_004369.3(COL6A3):c.611C>A (p.Thr204Asn)
NM_004369.3(COL6A3):c.6130G>A (p.Gly2044Arg) rs1559229322
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.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.3(COL6A3):c.6201G>C (p.Glu2067Asp)
NM_004369.3(COL6A3):c.6210C>T (p.Pro2070=) rs774374140
NM_004369.3(COL6A3):c.6211-4A>G rs398124127
NM_004369.3(COL6A3):c.6224C>T (p.Pro2075Leu)
NM_004369.3(COL6A3):c.6239G>T (p.Gly2080Val)
NM_004369.3(COL6A3):c.6242C>G (p.Thr2081Ser) rs1364892747
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.6356G>A (p.Gly2119Glu)
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.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.661G>A (p.Val221Met)
NM_004369.3(COL6A3):c.6640G>A (p.Gly2214Ser) rs777454204
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.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.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.6982C>A (p.Pro2328Thr) rs371637449
NM_004369.3(COL6A3):c.707C>T (p.Thr236Ile) rs886044270
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.7114G>A (p.Asp2372Asn) rs142002241
NM_004369.3(COL6A3):c.7173C>T (p.Tyr2391=) rs114248590
NM_004369.3(COL6A3):c.7192G>A (p.Val2398Ile)
NM_004369.3(COL6A3):c.7256G>C (p.Gly2419Ala) rs1339553173
NM_004369.3(COL6A3):c.7290T>G (p.Asn2430Lys)
NM_004369.3(COL6A3):c.7311C>G (p.Ser2437Arg) rs781087176
NM_004369.3(COL6A3):c.7328C>T (p.Ala2443Val)
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.7375C>T (p.Arg2459Trp) rs371066956
NM_004369.3(COL6A3):c.7376G>A (p.Arg2459Gln) rs777496872
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.7447A>G (p.Lys2483Glu) rs139260335
NM_004369.3(COL6A3):c.7475C>T (p.Ser2492Leu) rs754480145
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.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.776C>T (p.Ala259Val) rs149924028
NM_004369.3(COL6A3):c.7948G>A (p.Asp2650Asn) rs890268146
NM_004369.3(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023
NM_004369.3(COL6A3):c.8045C>T (p.Pro2682Leu)
NM_004369.3(COL6A3):c.8137A>G (p.Arg2713Gly) rs772602377
NM_004369.3(COL6A3):c.8168T>C (p.Ile2723Thr) rs373108028
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.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.8522G>A (p.Gly2841Glu)
NM_004369.3(COL6A3):c.8615C>T (p.Thr2872Met) rs759009226
NM_004369.3(COL6A3):c.8621C>T (p.Thr2874Met) rs779335085
NM_004369.3(COL6A3):c.8627C>T (p.Pro2876Leu)
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.8744C>T (p.Ala2915Val) rs751532649
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.8819C>T (p.Thr2940Met) rs200626456
NM_004369.3(COL6A3):c.8846C>T (p.Pro2949Leu) rs376021820
NM_004369.3(COL6A3):c.8861C>T (p.Pro2954Leu)
NM_004369.3(COL6A3):c.8966-3C>A rs190667494
NM_004369.3(COL6A3):c.8977C>T (p.Arg2993Cys)
NM_004369.3(COL6A3):c.9041C>T (p.Pro3014Leu) rs758774990
NM_004369.3(COL6A3):c.9059A>G (p.Tyr3020Cys)
NM_004369.3(COL6A3):c.9061_9063del (p.Asp3021del) rs756150789
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.9209A>G (p.Tyr3070Cys) rs368568929
NM_004369.3(COL6A3):c.9229+4A>C
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.9358A>C (p.Thr3120Pro) rs141050617
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.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.9508G>A (p.Gly3170Arg) rs568632361
NM_004369.3(COL6A3):c.98A>G (p.Lys33Arg)
NM_057164.5(COL6A3):c.92-6497_92-6495del rs554176183
Single allele

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