ClinVar Miner

List of variants in gene COL6A3 reported as uncertain significance for Bethlem myopathy 1

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 522
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HGVS dbSNP
NC_000002.12:g.(?_237333450)_(237334889_?)del
NC_000002.12:g.(?_237362747)_(237372158_?)del
NM_004369.3(COL6A3):c.1006C>T (p.Arg336Trp) rs200720222
NM_004369.3(COL6A3):c.1007G>A (p.Arg336Gln) rs745667305
NM_004369.3(COL6A3):c.1061G>A (p.Ser354Asn) rs1416475329
NM_004369.3(COL6A3):c.1063G>A (p.Ala355Thr) rs375022162
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) rs189772397
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.1216C>T (p.Arg406Cys) rs112817175
NM_004369.3(COL6A3):c.1292C>T (p.Pro431Leu) rs144746928
NM_004369.3(COL6A3):c.1394G>A (p.Arg465Gln) rs781231935
NM_004369.3(COL6A3):c.1502C>T (p.Thr501Ile) rs776324215
NM_004369.3(COL6A3):c.1574C>T (p.Thr525Met) rs755178814
NM_004369.3(COL6A3):c.1575G>A (p.Thr525=) rs749452623
NM_004369.3(COL6A3):c.1639G>A (p.Glu547Lys) rs1278327904
NM_004369.3(COL6A3):c.1727G>A (p.Ser576Asn) rs1291470412
NM_004369.3(COL6A3):c.1735G>A (p.Ala579Thr) rs1574725167
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) rs76576170
NM_004369.3(COL6A3):c.1826G>A (p.Arg609Gln) rs149330325
NM_004369.3(COL6A3):c.1867C>T (p.Pro623Ser) rs372022185
NM_004369.3(COL6A3):c.1906A>G (p.Asn636Asp) rs111379417
NM_004369.3(COL6A3):c.1958C>A (p.Thr653Asn) rs753557181
NM_004369.3(COL6A3):c.1961A>G (p.Asn654Ser) rs144501019
NM_004369.3(COL6A3):c.1975C>T (p.Arg659Cys) rs146291186
NM_004369.3(COL6A3):c.2000A>G (p.Asn667Ser) rs746265516
NM_004369.3(COL6A3):c.2029C>T (p.Arg677Cys) rs137923508
NM_004369.3(COL6A3):c.2066C>T (p.Thr689Met) rs762162177
NM_004369.3(COL6A3):c.2144C>T (p.Ser715Leu) rs780115806
NM_004369.3(COL6A3):c.2148C>T (p.Gly716=) rs1204913393
NM_004369.3(COL6A3):c.2180A>C (p.Tyr727Ser) rs113393241
NM_004369.3(COL6A3):c.2180A>G (p.Tyr727Cys) rs113393241
NM_004369.3(COL6A3):c.218A>G (p.Glu73Gly) rs138570455
NM_004369.3(COL6A3):c.2195C>T (p.Thr732Met) rs370719148
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.2236C>A (p.Leu746Ile) rs755052076
NM_004369.3(COL6A3):c.2302C>G (p.Arg768Gly) rs200722892
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=) rs780578768
NM_004369.3(COL6A3):c.2342C>T (p.Ala781Val) rs116753562
NM_004369.3(COL6A3):c.2350G>A (p.Ala784Thr) rs765006452
NM_004369.3(COL6A3):c.2374A>G (p.Asn792Asp) rs1574719707
NM_004369.3(COL6A3):c.2393T>C (p.Leu798Pro) rs939675343
NM_004369.3(COL6A3):c.2416C>T (p.Pro806Ser) rs1574719546
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) rs755587601
NM_004369.3(COL6A3):c.2546T>A (p.Val849Glu) rs1574716769
NM_004369.3(COL6A3):c.260C>G (p.Pro87Arg) rs200887514
NM_004369.3(COL6A3):c.2627C>T (p.Ala876Val) rs771091001
NM_004369.3(COL6A3):c.262C>T (p.His88Tyr) rs773999183
NM_004369.3(COL6A3):c.2666G>A (p.Arg889His) rs111295967
NM_004369.3(COL6A3):c.2707G>A (p.Val903Met) rs890279367
NM_004369.3(COL6A3):c.2722A>T (p.Ile908Phe) rs1370199768
NM_004369.3(COL6A3):c.2729C>T (p.Thr910Met) rs189356869
NM_004369.3(COL6A3):c.2756C>T (p.Ala919Val) rs115327470
NM_004369.3(COL6A3):c.2822T>C (p.Leu941Pro) rs1339733240
NM_004369.3(COL6A3):c.2845G>A (p.Ala949Thr) rs374960915
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) rs144651558
NM_004369.3(COL6A3):c.2908C>G (p.Pro970Ala) rs1226873582
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) rs140437593
NM_004369.3(COL6A3):c.2972C>T (p.Ala991Val) rs202185764
NM_004369.3(COL6A3):c.3008G>A (p.Gly1003Glu) rs775536678
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 rs370229367
NM_004369.3(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077
NM_004369.3(COL6A3):c.3164T>A (p.Val1055Glu) rs532449385
NM_004369.3(COL6A3):c.3169A>T (p.Ser1057Cys) rs1553560705
NM_004369.3(COL6A3):c.3187G>A (p.Asp1063Asn) rs760543147
NM_004369.3(COL6A3):c.3190C>T (p.Arg1064Trp) rs369810455
NM_004369.3(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814
NM_004369.3(COL6A3):c.3271G>A (p.Val1091Ile) rs373915980
NM_004369.3(COL6A3):c.3274G>A (p.Val1092Ile) rs576798969
NM_004369.3(COL6A3):c.3286C>T (p.Arg1096Cys) rs114852262
NM_004369.3(COL6A3):c.3311C>T (p.Pro1104Leu) rs371991808
NM_004369.3(COL6A3):c.3319A>G (p.Asn1107Asp) rs1574710031
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) rs1574709919
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) rs774764179
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) rs144976132
NM_004369.3(COL6A3):c.3598G>T (p.Val1200Phe) rs779028054
NM_004369.3(COL6A3):c.3619C>A (p.Gln1207Lys) rs886042393
NM_004369.3(COL6A3):c.3651G>T (p.Gln1217His) rs115065877
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 rs138878144
NM_004369.3(COL6A3):c.3700G>A (p.Val1234Met) rs747082651
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.3754C>T (p.Arg1252Cys) rs563530370
NM_004369.3(COL6A3):c.3755G>A (p.Arg1252His) rs201314411
NM_004369.3(COL6A3):c.3790G>A (p.Val1264Met) rs541703064
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) rs570869775
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) rs140330124
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) rs779967310
NM_004369.3(COL6A3):c.3991C>A (p.Arg1331Ser) rs750341446
NM_004369.3(COL6A3):c.4007T>C (p.Val1336Ala) rs760059705
NM_004369.3(COL6A3):c.4041G>T (p.Lys1347Asn) rs781033908
NM_004369.3(COL6A3):c.4048G>A (p.Asp1350Asn) rs752977410
NM_004369.3(COL6A3):c.4085T>A (p.Phe1362Tyr) rs745420792
NM_004369.3(COL6A3):c.409C>T (p.Arg137Trp) rs143819673
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) rs767829363
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) rs1335664006
NM_004369.3(COL6A3):c.4324G>A (p.Asp1442Asn) rs772700553
NM_004369.3(COL6A3):c.439G>A (p.Val147Ile) rs536452909
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.4448A>T (p.Asp1483Val) rs114736729
NM_004369.3(COL6A3):c.4503C>A (p.Asp1501Glu) rs115551245
NM_004369.3(COL6A3):c.4510C>T (p.Arg1504Trp) rs144223596
NM_004369.3(COL6A3):c.4604G>A (p.Arg1535His) rs115765346
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.4729A>G (p.Asn1577Asp) rs1559239453
NM_004369.3(COL6A3):c.4742C>G (p.Thr1581Arg) rs1156524068
NM_004369.3(COL6A3):c.4765G>A (p.Asp1589Asn) rs904372024
NM_004369.3(COL6A3):c.4787T>C (p.Val1596Ala) rs1559239279
NM_004369.3(COL6A3):c.4817A>T (p.Glu1606Val) rs1064796167
NM_004369.3(COL6A3):c.4849G>A (p.Ala1617Thr) rs200433282
NM_004369.3(COL6A3):c.4873G>A (p.Val1625Met) rs398124121
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) rs1574991145
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.5113G>A (p.Ala1705Thr) rs886042488
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) rs760717002
NM_004369.3(COL6A3):c.5213G>A (p.Arg1738His) rs774808500
NM_004369.3(COL6A3):c.5222A>T (p.Gln1741Leu) rs769177221
NM_004369.3(COL6A3):c.5224C>T (p.Arg1742Trp) rs578249894
NM_004369.3(COL6A3):c.5225G>A (p.Arg1742Gln) rs886042855
NM_004369.3(COL6A3):c.5244T>A (p.Phe1748Leu) rs777266074
NM_004369.3(COL6A3):c.5252C>T (p.Thr1751Met) rs201147199
NM_004369.3(COL6A3):c.5308G>C (p.Gly1770Arg) rs763289509
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) rs140513454
NM_004369.3(COL6A3):c.5387C>T (p.Ala1796Val) rs772890888
NM_004369.3(COL6A3):c.5393G>A (p.Arg1798His) rs371441617
NM_004369.3(COL6A3):c.5419G>A (p.Glu1807Lys) rs781624176
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.5645C>T (p.Ser1882Leu) rs368943871
NM_004369.3(COL6A3):c.5657G>A (p.Arg1886His) rs368379003
NM_004369.3(COL6A3):c.5678C>T (p.Thr1893Met) rs143389941
NM_004369.3(COL6A3):c.5680C>T (p.Pro1894Ser) rs112540218
NM_004369.3(COL6A3):c.5681C>T (p.Pro1894Leu) rs376002858
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.5752C>A (p.Arg1918Ser) rs750367811
NM_004369.3(COL6A3):c.575C>T (p.Pro192Leu) rs563800854
NM_004369.3(COL6A3):c.5768A>G (p.Tyr1923Cys) rs1574987599
NM_004369.3(COL6A3):c.5794G>A (p.Val1932Ile) rs113817270
NM_004369.3(COL6A3):c.5804A>G (p.Asn1935Ser) rs1574987505
NM_004369.3(COL6A3):c.581A>G (p.Asn194Ser) rs771489087
NM_004369.3(COL6A3):c.5838+5G>A rs1553555753
NM_004369.3(COL6A3):c.5869G>A (p.Gly1957Arg) rs554219567
NM_004369.3(COL6A3):c.5908C>T (p.Arg1970Cys) rs886042371
NM_004369.3(COL6A3):c.5909G>A (p.Arg1970His) rs368635334
NM_004369.3(COL6A3):c.592T>G (p.Phe198Val) rs754618002
NM_004369.3(COL6A3):c.5953G>A (p.Val1985Met) rs200478135
NM_004369.3(COL6A3):c.5969G>A (p.Arg1990Gln) rs780489910
NM_004369.3(COL6A3):c.5977C>T (p.His1993Tyr) rs1559231403
NM_004369.3(COL6A3):c.6001A>G (p.Met2001Val) rs201539582
NM_004369.3(COL6A3):c.6054G>A (p.Ala2018=) rs367696163
NM_004369.3(COL6A3):c.6068A>G (p.Asn2023Ser) rs115320113
NM_004369.3(COL6A3):c.6086G>A (p.Cys2029Tyr) rs758893173
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) rs1574755113
NM_004369.3(COL6A3):c.6130G>A (p.Gly2044Arg) rs1559229322
NM_004369.3(COL6A3):c.6156G>C (p.Lys2052Asn) rs398124125
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) rs765647487
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) rs113331139
NM_004369.3(COL6A3):c.6239G>T (p.Gly2080Val) rs794727188
NM_004369.3(COL6A3):c.6242C>G (p.Thr2081Ser) rs1364892747
NM_004369.3(COL6A3):c.6263C>T (p.Pro2088Leu) rs113896755
NM_004369.3(COL6A3):c.6289C>T (p.Arg2097Trp) rs148252611
NM_004369.3(COL6A3):c.6342G>A (p.Leu2114=) rs886043269
NM_004369.3(COL6A3):c.6356G>A (p.Gly2119Glu) rs1574974640
NM_004369.3(COL6A3):c.6408G>C (p.Arg2136Ser) rs781675126
NM_004369.3(COL6A3):c.6422C>A (p.Pro2141His) rs369169235
NM_004369.3(COL6A3):c.6425G>A (p.Arg2142Gln) rs766968738
NM_004369.3(COL6A3):c.6443G>A (p.Arg2148Lys) rs1574973805
NM_004369.3(COL6A3):c.6451G>C (p.Val2151Leu) rs768565928
NM_004369.3(COL6A3):c.6452T>C (p.Val2151Ala) rs540633944
NM_004369.3(COL6A3):c.6470C>T (p.Pro2157Leu) rs372281922
NM_004369.3(COL6A3):c.6520G>A (p.Gly2174Ser) rs766458058
NM_004369.3(COL6A3):c.6591+5G>A rs1574971639
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) rs765527121
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) rs1574963550
NM_004369.3(COL6A3):c.6730G>C (p.Glu2244Gln) rs753307921
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) rs1574958818
NM_004369.3(COL6A3):c.6868C>T (p.Arg2290Cys) rs116608946
NM_004369.3(COL6A3):c.6869G>T (p.Arg2290Leu) rs398124131
NM_004369.3(COL6A3):c.686C>T (p.Thr229Met) rs141586922
NM_004369.3(COL6A3):c.6890G>C (p.Gly2297Ala) rs886043576
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) rs111927395
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.6973C>A (p.Pro2325Thr) rs886044392
NM_004369.3(COL6A3):c.6982C>A (p.Pro2328Thr) rs371637449
NM_004369.3(COL6A3):c.7029+3A>G rs886044464
NM_004369.3(COL6A3):c.704T>C (p.Ile235Thr) rs886043065
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.7174G>A (p.Gly2392Arg) rs773673162
NM_004369.3(COL6A3):c.7192G>A (p.Val2398Ile) rs375640580
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.7290T>G (p.Asn2430Lys) rs900113844
NM_004369.3(COL6A3):c.7311C>G (p.Ser2437Arg) rs781087176
NM_004369.3(COL6A3):c.7328C>T (p.Ala2443Val) rs555176397
NM_004369.3(COL6A3):c.7331G>C (p.Arg2444Pro) rs895701604
NM_004369.3(COL6A3):c.7356C>G (p.Asn2452Lys) rs569662223
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.7607C>T (p.Ala2536Val) rs769072338
NM_004369.3(COL6A3):c.764G>A (p.Ser255Asn) rs755138368
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 rs763071900
NM_004369.3(COL6A3):c.7670T>A (p.Ile2557Asn) rs146872525
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.7691A>T (p.His2564Leu) rs886055804
NM_004369.3(COL6A3):c.776C>T (p.Ala259Val) rs149924028
NM_004369.3(COL6A3):c.7832C>T (p.Ala2611Val) rs114806654
NM_004369.3(COL6A3):c.7879G>A (p.Ala2627Thr) rs776220123
NM_004369.3(COL6A3):c.7948G>A (p.Asp2650Asn) rs890268146
NM_004369.3(COL6A3):c.7976A>G (p.Gln2659Arg) rs886044041
NM_004369.3(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023
NM_004369.3(COL6A3):c.802C>T (p.Leu268Phe) rs572430889
NM_004369.3(COL6A3):c.8045C>T (p.Pro2682Leu) rs761740861
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.8236G>A (p.Glu2746Lys) rs111395856
NM_004369.3(COL6A3):c.8243C>T (p.Pro2748Leu) rs115595706
NM_004369.3(COL6A3):c.8257G>A (p.Glu2753Lys) rs144130137
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.8377G>A (p.Val2793Ile) rs569907876
NM_004369.3(COL6A3):c.8393T>C (p.Val2798Ala) rs749169391
NM_004369.3(COL6A3):c.8416G>A (p.Glu2806Lys) rs775200499
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) rs1296360526
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) rs367635298
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.8639C>T (p.Thr2880Met) rs770436761
NM_004369.3(COL6A3):c.8644C>T (p.Pro2882Ser) rs1553544899
NM_004369.3(COL6A3):c.8645C>T (p.Pro2882Leu) rs112178393
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=) rs1332418093
NM_004369.3(COL6A3):c.8759C>A (p.Ala2920Asp) rs1455583519
NM_004369.3(COL6A3):c.878T>C (p.Met293Thr) rs1361910233
NM_004369.3(COL6A3):c.8804C>A (p.Ala2935Glu) rs36020669
NM_004369.3(COL6A3):c.8807T>C (p.Val2936Ala) rs1218467207
NM_004369.3(COL6A3):c.8819C>T (p.Thr2940Met) rs200626456
NM_004369.3(COL6A3):c.8861C>T (p.Pro2954Leu) rs766551222
NM_004369.3(COL6A3):c.8924C>T (p.Ala2975Val) rs557120711
NM_004369.3(COL6A3):c.8966-3C>A rs190667494
NM_004369.3(COL6A3):c.8977C>T (p.Arg2993Cys) rs148318789
NM_004369.3(COL6A3):c.898_900del (p.Ser300del) rs554176183
NM_004369.3(COL6A3):c.9041C>T (p.Pro3014Leu) rs758774990
NM_004369.3(COL6A3):c.9059A>G (p.Tyr3020Cys) rs371006546
NM_004369.3(COL6A3):c.9061G>C (p.Asp3021His) rs144054353
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.9130G>A (p.Val3044Ile) rs374628435
NM_004369.3(COL6A3):c.9209A>G (p.Tyr3070Cys) rs368568929
NM_004369.3(COL6A3):c.9229+4A>C rs749872311
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) rs751270381
NM_004369.3(COL6A3):c.9394C>T (p.Pro3132Ser) rs147533489
NM_004369.3(COL6A3):c.9407G>A (p.Ser3136Asn) rs759514583
NM_004369.3(COL6A3):c.9418T>G (p.Phe3140Val) rs886042448
NM_004369.3(COL6A3):c.9451A>G (p.Lys3151Glu) rs371468515
NM_004369.3(COL6A3):c.9457G>C (p.Gly3153Arg) rs769392747
NM_004369.3(COL6A3):c.9487G>A (p.Ala3163Thr) rs553486570
NM_004369.3(COL6A3):c.9494-2A>G rs142546062
NM_004369.3(COL6A3):c.9508G>A (p.Gly3170Arg) rs568632361
NM_004369.3(COL6A3):c.973G>A (p.Ala325Thr) rs905662421
NM_004369.3(COL6A3):c.98A>G (p.Lys33Arg) rs781141962
NM_004369.3(COL6A3):c.[6064-5G>A];[6859delC]
NM_004369.4(COL6A3):c.108G>A (p.Ala36=)
NM_004369.4(COL6A3):c.1194G>C (p.Leu398Phe)
NM_004369.4(COL6A3):c.1286T>C (p.Leu429Ser)
NM_004369.4(COL6A3):c.1303G>T (p.Val435Phe)
NM_004369.4(COL6A3):c.13C>T (p.Arg5Trp)
NM_004369.4(COL6A3):c.1420A>G (p.Arg474Gly)
NM_004369.4(COL6A3):c.1439A>G (p.Asp480Gly)
NM_004369.4(COL6A3):c.1526T>C (p.Ile509Thr)
NM_004369.4(COL6A3):c.1570T>C (p.Tyr524His)
NM_004369.4(COL6A3):c.1576G>A (p.Gly526Ser)
NM_004369.4(COL6A3):c.1583C>T (p.Ala528Val)
NM_004369.4(COL6A3):c.1594G>A (p.Val532Ile)
NM_004369.4(COL6A3):c.1597C>T (p.Arg533Cys)
NM_004369.4(COL6A3):c.1624G>A (p.Gly542Ser)
NM_004369.4(COL6A3):c.1627T>C (p.Tyr543His)
NM_004369.4(COL6A3):c.1669A>G (p.Thr557Ala)
NM_004369.4(COL6A3):c.1759G>T (p.Ala587Ser)
NM_004369.4(COL6A3):c.1874G>C (p.Arg625Thr)
NM_004369.4(COL6A3):c.191A>C (p.Asp64Ala)
NM_004369.4(COL6A3):c.2042T>G (p.Val681Gly)
NM_004369.4(COL6A3):c.2071T>C (p.Phe691Leu)
NM_004369.4(COL6A3):c.2153A>G (p.Asn718Ser)
NM_004369.4(COL6A3):c.2260C>A (p.Gln754Lys)
NM_004369.4(COL6A3):c.2320T>C (p.Phe774Leu)
NM_004369.4(COL6A3):c.2324G>A (p.Cys775Tyr)
NM_004369.4(COL6A3):c.2512A>T (p.Ile838Phe)
NM_004369.4(COL6A3):c.254G>A (p.Gly85Glu)
NM_004369.4(COL6A3):c.2567G>A (p.Arg856His)
NM_004369.4(COL6A3):c.2570A>G (p.Asp857Gly)
NM_004369.4(COL6A3):c.2575C>G (p.Leu859Val)
NM_004369.4(COL6A3):c.2663C>G (p.Ser888Cys)
NM_004369.4(COL6A3):c.2698C>G (p.Leu900Val)
NM_004369.4(COL6A3):c.2809G>A (p.Glu937Lys)
NM_004369.4(COL6A3):c.2879C>G (p.Ala960Gly)
NM_004369.4(COL6A3):c.2902G>A (p.Val968Ile)
NM_004369.4(COL6A3):c.2945A>C (p.Glu982Ala)
NM_004369.4(COL6A3):c.3044C>T (p.Ser1015Leu)
NM_004369.4(COL6A3):c.3061C>T (p.Pro1021Ser)
NM_004369.4(COL6A3):c.3197G>A (p.Arg1066His)
NM_004369.4(COL6A3):c.3257T>A (p.Met1086Lys)
NM_004369.4(COL6A3):c.3280G>T (p.Ala1094Ser)
NM_004369.4(COL6A3):c.3325G>A (p.Gly1109Arg)
NM_004369.4(COL6A3):c.3631G>A (p.Glu1211Lys)
NM_004369.4(COL6A3):c.3671C>T (p.Pro1224Leu)
NM_004369.4(COL6A3):c.3679+4C>T
NM_004369.4(COL6A3):c.3779A>G (p.Asp1260Gly)
NM_004369.4(COL6A3):c.3850T>A (p.Phe1284Ile)
NM_004369.4(COL6A3):c.3895G>A (p.Val1299Met)
NM_004369.4(COL6A3):c.4021G>A (p.Val1341Ile)
NM_004369.4(COL6A3):c.4064C>T (p.Pro1355Leu)
NM_004369.4(COL6A3):c.4093G>A (p.Ala1365Thr)
NM_004369.4(COL6A3):c.4296T>A (p.Ser1432Arg)
NM_004369.4(COL6A3):c.4363A>G (p.Ile1455Val)
NM_004369.4(COL6A3):c.4382G>A (p.Arg1461Lys)
NM_004369.4(COL6A3):c.4405G>A (p.Gly1469Ser)
NM_004369.4(COL6A3):c.4445A>G (p.Asn1482Ser)
NM_004369.4(COL6A3):c.4513C>T (p.Arg1505Cys)
NM_004369.4(COL6A3):c.4514G>A (p.Arg1505His)
NM_004369.4(COL6A3):c.4595C>T (p.Ala1532Val)
NM_004369.4(COL6A3):c.4690C>T (p.Arg1564Cys)
NM_004369.4(COL6A3):c.4813A>G (p.Ile1605Val)
NM_004369.4(COL6A3):c.4932G>A (p.Leu1644=)
NM_004369.4(COL6A3):c.4964T>C (p.Phe1655Ser)
NM_004369.4(COL6A3):c.4969G>A (p.Glu1657Lys)
NM_004369.4(COL6A3):c.5003C>T (p.Thr1668Ile)
NM_004369.4(COL6A3):c.5020G>A (p.Asp1674Asn)
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly)
NM_004369.4(COL6A3):c.5307G>T (p.Arg1769Ser)
NM_004369.4(COL6A3):c.5330G>T (p.Gly1777Val)
NM_004369.4(COL6A3):c.5344G>A (p.Asp1782Asn)
NM_004369.4(COL6A3):c.5351A>G (p.Glu1784Gly)
NM_004369.4(COL6A3):c.5428G>C (p.Glu1810Gln)
NM_004369.4(COL6A3):c.5432A>G (p.Gln1811Arg)
NM_004369.4(COL6A3):c.5450A>G (p.His1817Arg)
NM_004369.4(COL6A3):c.5544C>A (p.Asp1848Glu)
NM_004369.4(COL6A3):c.5547G>C (p.Gln1849His)
NM_004369.4(COL6A3):c.5590G>T (p.Ala1864Ser)
NM_004369.4(COL6A3):c.5693T>C (p.Val1898Ala)
NM_004369.4(COL6A3):c.5716T>C (p.Tyr1906His)
NM_004369.4(COL6A3):c.5744G>A (p.Arg1915Gln)
NM_004369.4(COL6A3):c.5753G>A (p.Arg1918His)
NM_004369.4(COL6A3):c.5777C>T (p.Thr1926Met)
NM_004369.4(COL6A3):c.580A>G (p.Asn194Asp)
NM_004369.4(COL6A3):c.5839-3C>T rs112825341
NM_004369.4(COL6A3):c.5842G>T (p.Val1948Phe)
NM_004369.4(COL6A3):c.6022C>G (p.Leu2008Val)
NM_004369.4(COL6A3):c.6039G>A (p.Leu2013=)
NM_004369.4(COL6A3):c.6120G>T (p.Arg2040Ser)
NM_004369.4(COL6A3):c.6128G>A (p.Arg2043His)
NM_004369.4(COL6A3):c.6151C>A (p.Pro2051Thr)
NM_004369.4(COL6A3):c.6156G>T (p.Lys2052Asn)
NM_004369.4(COL6A3):c.619C>T (p.His207Tyr)
NM_004369.4(COL6A3):c.6217C>T (p.Arg2073Cys)
NM_004369.4(COL6A3):c.6309+10C>G
NM_004369.4(COL6A3):c.6394A>T (p.Asn2132Tyr)
NM_004369.4(COL6A3):c.6448G>A (p.Asp2150Asn)
NM_004369.4(COL6A3):c.6461G>A (p.Arg2154Gln)
NM_004369.4(COL6A3):c.6469C>G (p.Pro2157Ala)
NM_004369.4(COL6A3):c.6545C>T (p.Pro2182Leu)
NM_004369.4(COL6A3):c.6766G>A (p.Ala2256Thr)
NM_004369.4(COL6A3):c.6775G>A (p.Ala2259Thr)
NM_004369.4(COL6A3):c.6859C>T (p.Arg2287Trp)
NM_004369.4(COL6A3):c.6860G>A (p.Arg2287Gln)
NM_004369.4(COL6A3):c.6889G>A (p.Gly2297Arg)
NM_004369.4(COL6A3):c.6901G>T (p.Val2301Phe)
NM_004369.4(COL6A3):c.6973C>T (p.Pro2325Ser)
NM_004369.4(COL6A3):c.6979G>A (p.Glu2327Lys)
NM_004369.4(COL6A3):c.6998C>A (p.Thr2333Lys)
NM_004369.4(COL6A3):c.7006C>T (p.Pro2336Ser)
NM_004369.4(COL6A3):c.7055T>G (p.Val2352Gly)
NM_004369.4(COL6A3):c.709+4A>G
NM_004369.4(COL6A3):c.7174+5G>A
NM_004369.4(COL6A3):c.7217C>T (p.Ala2406Val)
NM_004369.4(COL6A3):c.721G>A (p.Ala241Thr)
NM_004369.4(COL6A3):c.7259G>A (p.Arg2420Gln)
NM_004369.4(COL6A3):c.7363A>G (p.Thr2455Ala)
NM_004369.4(COL6A3):c.7367C>T (p.Thr2456Met)
NM_004369.4(COL6A3):c.7451A>C (p.Gln2484Pro) rs1574948119
NM_004369.4(COL6A3):c.7477T>C (p.Phe2493Leu)
NM_004369.4(COL6A3):c.7546A>G (p.Ser2516Gly)
NM_004369.4(COL6A3):c.7573C>G (p.Gln2525Glu)
NM_004369.4(COL6A3):c.7612A>G (p.Ile2538Val)
NM_004369.4(COL6A3):c.7699G>A (p.Val2567Ile)
NM_004369.4(COL6A3):c.7819A>G (p.Arg2607Gly)
NM_004369.4(COL6A3):c.7870T>G (p.Leu2624Val)
NM_004369.4(COL6A3):c.7877G>A (p.Ser2626Asn)
NM_004369.4(COL6A3):c.7963C>G (p.Pro2655Ala)
NM_004369.4(COL6A3):c.8114G>T (p.Gly2705Val)
NM_004369.4(COL6A3):c.8212A>T (p.Ile2738Phe)
NM_004369.4(COL6A3):c.8267A>C (p.Gln2756Pro)
NM_004369.4(COL6A3):c.8289A>C (p.Lys2763Asn)
NM_004369.4(COL6A3):c.8290T>G (p.Cys2764Gly)
NM_004369.4(COL6A3):c.8310G>A (p.Val2770=)
NM_004369.4(COL6A3):c.8319C>T (p.Gly2773=)
NM_004369.4(COL6A3):c.8584G>A (p.Val2862Ile)
NM_004369.4(COL6A3):c.8637_8654dup (p.2875_2880KPVTTT[3])
NM_004369.4(COL6A3):c.8695A>G (p.Ile2899Val)
NM_004369.4(COL6A3):c.8789T>C (p.Val2930Ala)
NM_004369.4(COL6A3):c.87A>T (p.Gln29His)
NM_004369.4(COL6A3):c.8828A>G (p.Lys2943Arg)
NM_004369.4(COL6A3):c.8863C>T (p.Pro2955Ser)
NM_004369.4(COL6A3):c.8870C>T (p.Ala2957Val)
NM_004369.4(COL6A3):c.8903A>C (p.Glu2968Ala)
NM_004369.4(COL6A3):c.8914C>T (p.Pro2972Ser)
NM_004369.4(COL6A3):c.8996A>G (p.Glu2999Gly)
NM_004369.4(COL6A3):c.9281C>T (p.Thr3094Ile)
NM_004369.4(COL6A3):c.9308C>A (p.Pro3103Gln)
NM_004369.4(COL6A3):c.932C>T (p.Ala311Val)
NM_004369.4(COL6A3):c.9416G>A (p.Arg3139Lys)
NM_004369.4(COL6A3):c.9417A>G (p.Arg3139=)
NM_004369.4(COL6A3):c.9487G>C (p.Ala3163Pro)
NM_004369.4(COL6A3):c.9499G>A (p.Ala3167Thr)
NM_004369.4(COL6A3):c.985G>A (p.Val329Met) rs542283928
NM_057166.5(COL6A3):c.7047_7049TGC[5] (p.Ala2353dup) rs35879189

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