ClinVar Miner

List of variants studied for Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 640
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HGVS dbSNP
NC_000006.12:g.(?_75086537)_(75202802_?)dup
NC_000006.12:g.75117545del
NM_004370.6(COL12A1):c.1006C>T (p.Pro336Ser)
NM_004370.6(COL12A1):c.100A>G (p.Lys34Glu) rs747183950
NM_004370.6(COL12A1):c.1029G>A (p.Met343Ile)
NM_004370.6(COL12A1):c.103A>G (p.Ile35Val)
NM_004370.6(COL12A1):c.1053G>T (p.Lys351Asn) rs1562297952
NM_004370.6(COL12A1):c.1065T>A (p.Asn355Lys)
NM_004370.6(COL12A1):c.1106C>T (p.Thr369Ile)
NM_004370.6(COL12A1):c.110A>G (p.Asp37Gly) rs374757163
NM_004370.6(COL12A1):c.1110A>G (p.Pro370=) rs575544133
NM_004370.6(COL12A1):c.1115C>T (p.Thr372Ile)
NM_004370.6(COL12A1):c.1133A>G (p.His378Arg)
NM_004370.6(COL12A1):c.1135G>A (p.Ala379Thr)
NM_004370.6(COL12A1):c.113A>C (p.Glu38Ala) rs200828190
NM_004370.6(COL12A1):c.1150C>T (p.Pro384Ser)
NM_004370.6(COL12A1):c.1152T>C (p.Pro384=) rs200496785
NM_004370.6(COL12A1):c.1159A>G (p.Thr387Ala) rs1582198440
NM_004370.6(COL12A1):c.1163C>A (p.Thr388Lys) rs201657256
NM_004370.6(COL12A1):c.1163C>T (p.Thr388Met) rs201657256
NM_004370.6(COL12A1):c.1175G>A (p.Arg392His) rs755195861
NM_004370.6(COL12A1):c.1176C>T (p.Arg392=) rs751787368
NM_004370.6(COL12A1):c.1177G>A (p.Asp393Asn) rs369309158
NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr) rs202175607
NM_004370.6(COL12A1):c.1188A>C (p.Ala396=) rs202153313
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala) rs201343487
NM_004370.6(COL12A1):c.1204A>G (p.Ile402Val) rs1582198261
NM_004370.6(COL12A1):c.1215C>T (p.Ser405=) rs374962362
NM_004370.6(COL12A1):c.1226G>A (p.Gly409Glu)
NM_004370.6(COL12A1):c.1256T>C (p.Met419Thr)
NM_004370.6(COL12A1):c.1258G>C (p.Glu420Gln)
NM_004370.6(COL12A1):c.1276A>G (p.Lys426Glu) rs1562297194
NM_004370.6(COL12A1):c.1278A>C (p.Lys426Asn)
NM_004370.6(COL12A1):c.1295C>T (p.Ser432Leu)
NM_004370.6(COL12A1):c.132A>G (p.Ser44=) rs201454637
NM_004370.6(COL12A1):c.1356G>T (p.Gly452=) rs372285460
NM_004370.6(COL12A1):c.1365C>T (p.Asn455=) rs192004528
NM_004370.6(COL12A1):c.1434G>C (p.Gln478His) rs762385473
NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln) rs367630003
NM_004370.6(COL12A1):c.1492A>G (p.Thr498Ala) rs753897086
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly) rs189762594
NM_004370.6(COL12A1):c.1551A>G (p.Thr517=) rs34767467
NM_004370.6(COL12A1):c.1561A>G (p.Lys521Glu) rs774728500
NM_004370.6(COL12A1):c.1631T>A (p.Val544Asp)
NM_004370.6(COL12A1):c.1644C>A (p.Ile548=) rs147111006
NM_004370.6(COL12A1):c.1646C>T (p.Thr549Met)
NM_004370.6(COL12A1):c.1682C>T (p.Ala561Val)
NM_004370.6(COL12A1):c.1737C>T (p.Ala579=) rs780442166
NM_004370.6(COL12A1):c.173C>T (p.Thr58Met) rs140583215
NM_004370.6(COL12A1):c.1741C>T (p.Arg581Cys)
NM_004370.6(COL12A1):c.1742G>A (p.Arg581His)
NM_004370.6(COL12A1):c.1743C>T (p.Arg581=) rs201511621
NM_004370.6(COL12A1):c.1775C>T (p.Ala592Val) rs373292353
NM_004370.6(COL12A1):c.1783C>A (p.His595Asn) rs370544100
NM_004370.6(COL12A1):c.1821G>A (p.Arg607=) rs199994914
NM_004370.6(COL12A1):c.1831G>C (p.Glu611Gln)
NM_004370.6(COL12A1):c.1841A>C (p.Gln614Pro) rs1202194413
NM_004370.6(COL12A1):c.185C>G (p.Thr62Arg) rs779409298
NM_004370.6(COL12A1):c.1881A>G (p.Ile627Met)
NM_004370.6(COL12A1):c.188C>T (p.Thr63Met) rs374544349
NM_004370.6(COL12A1):c.1891+4A>G rs148292262
NM_004370.6(COL12A1):c.1891G>A (p.Ala631Thr)
NM_004370.6(COL12A1):c.1891G>T (p.Ala631Ser)
NM_004370.6(COL12A1):c.1892-6_1892-5insG rs752652515
NM_004370.6(COL12A1):c.1892-6dup rs753233369
NM_004370.6(COL12A1):c.1892-7T>A
NM_004370.6(COL12A1):c.1892-7T>C rs779185109
NM_004370.6(COL12A1):c.1892-7_1892-6insC rs34433354
NM_004370.6(COL12A1):c.1892-8_1892-6del rs199713791
NM_004370.6(COL12A1):c.1896C>T (p.Tyr632=) rs201266825
NM_004370.6(COL12A1):c.1897G>C (p.Val633Leu)
NM_004370.6(COL12A1):c.1897G>T (p.Val633Phe) rs200315815
NM_004370.6(COL12A1):c.189G>A (p.Thr63=)
NM_004370.6(COL12A1):c.1925A>C (p.Glu642Ala)
NM_004370.6(COL12A1):c.1971A>C (p.Glu657Asp) rs758146130
NM_004370.6(COL12A1):c.1984del (p.Tyr662fs)
NM_004370.6(COL12A1):c.1988A>G (p.His663Arg) rs764241362
NM_004370.6(COL12A1):c.1990A>G (p.Ile664Val)
NM_004370.6(COL12A1):c.2006C>T (p.Ala669Val) rs201657576
NM_004370.6(COL12A1):c.2007G>A (p.Ala669=) rs77790445
NM_004370.6(COL12A1):c.2009C>G (p.Ala670Gly)
NM_004370.6(COL12A1):c.2022G>A (p.Glu674=) rs1582191777
NM_004370.6(COL12A1):c.2038C>G (p.Pro680Ala) rs1562290248
NM_004370.6(COL12A1):c.2044T>A (p.Ser682Thr) rs371321756
NM_004370.6(COL12A1):c.2086T>C (p.Leu696=) rs116691242
NM_004370.6(COL12A1):c.2094G>C (p.Leu698Phe)
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051
NM_004370.6(COL12A1):c.2109G>A (p.Ala703=)
NM_004370.6(COL12A1):c.211A>G (p.Thr71Ala)
NM_004370.6(COL12A1):c.2131A>G (p.Ile711Val) rs773755693
NM_004370.6(COL12A1):c.2141C>T (p.Ala714Val) rs1202850966
NM_004370.6(COL12A1):c.214C>A (p.Leu72Ile)
NM_004370.6(COL12A1):c.2157C>T (p.Thr719=) rs776302292
NM_004370.6(COL12A1):c.2158G>A (p.Glu720Lys) rs768052470
NM_004370.6(COL12A1):c.2173G>A (p.Ala725Thr)
NM_004370.6(COL12A1):c.2173G>T (p.Ala725Ser) rs984509796
NM_004370.6(COL12A1):c.2174C>A (p.Ala725Glu) rs1341300538
NM_004370.6(COL12A1):c.2180G>A (p.Arg727Gln) rs775023310
NM_004370.6(COL12A1):c.2194A>G (p.Thr732Ala)
NM_004370.6(COL12A1):c.224G>A (p.Ser75Asn)
NM_004370.6(COL12A1):c.2263A>G (p.Ile755Val)
NM_004370.6(COL12A1):c.226A>G (p.Thr76Ala) rs370684538
NM_004370.6(COL12A1):c.2275C>T (p.Pro759Ser) rs141517088
NM_004370.6(COL12A1):c.2288G>A (p.Gly763Glu)
NM_004370.6(COL12A1):c.2314C>T (p.Pro772Ser) rs370256196
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly) rs200167099
NM_004370.6(COL12A1):c.2324G>A (p.Arg775Lys) rs1341266694
NM_004370.6(COL12A1):c.2357C>T (p.Thr786Met) rs148810173
NM_004370.6(COL12A1):c.2372C>T (p.Ser791Phe) rs376517147
NM_004370.6(COL12A1):c.2374G>A (p.Val792Ile) rs375704787
NM_004370.6(COL12A1):c.2396G>A (p.Gly799Glu)
NM_004370.6(COL12A1):c.2405C>T (p.Thr802Ile)
NM_004370.6(COL12A1):c.2436A>C (p.Glu812Asp)
NM_004370.6(COL12A1):c.2438-5T>C
NM_004370.6(COL12A1):c.2473C>G (p.Pro825Ala)
NM_004370.6(COL12A1):c.2477C>T (p.Thr826Met) rs1369556861
NM_004370.6(COL12A1):c.2480C>T (p.Thr827Met) rs149832668
NM_004370.6(COL12A1):c.2481G>A (p.Thr827=) rs35170847
NM_004370.6(COL12A1):c.2496A>T (p.Leu832Phe) rs199992321
NM_004370.6(COL12A1):c.250C>G (p.Leu84Val)
NM_004370.6(COL12A1):c.2536G>A (p.Val846Ile)
NM_004370.6(COL12A1):c.2546C>A (p.Thr849Asn) rs559028883
NM_004370.6(COL12A1):c.2552T>A (p.Val851Glu)
NM_004370.6(COL12A1):c.2569C>G (p.Gln857Glu) rs201662983
NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu) rs370388701
NM_004370.6(COL12A1):c.2592T>G (p.Asp864Glu)
NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met)
NM_004370.6(COL12A1):c.2604G>T (p.Thr868=) rs554348257
NM_004370.6(COL12A1):c.2638G>A (p.Ala880Thr) rs568432319
NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr)
NM_004370.6(COL12A1):c.2663C>T (p.Ala888Val) rs777386471
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala) rs1278211393
NM_004370.6(COL12A1):c.2680G>A (p.Ala894Thr) rs1415214085
NM_004370.6(COL12A1):c.2691T>G (p.Gly897=) rs1554186131
NM_004370.6(COL12A1):c.2694A>T (p.Glu898Asp)
NM_004370.6(COL12A1):c.2696G>A (p.Gly899Glu) rs201382636
NM_004370.6(COL12A1):c.2703A>C (p.Thr901=) rs1554186125
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His) rs369193482
NM_004370.6(COL12A1):c.274G>T (p.Val92Leu) rs377482121
NM_004370.6(COL12A1):c.2772T>C (p.Tyr924=) rs35429515
NM_004370.6(COL12A1):c.2797C>T (p.Arg933Cys) rs377223474
NM_004370.6(COL12A1):c.2798G>A (p.Arg933His) rs779848906
NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met) rs200698641
NM_004370.6(COL12A1):c.2880G>A (p.Thr960=) rs374531525
NM_004370.6(COL12A1):c.289T>C (p.Tyr97His)
NM_004370.6(COL12A1):c.292G>A (p.Asp98Asn) rs558571598
NM_004370.6(COL12A1):c.2948_2950del (p.Glu983del)
NM_004370.6(COL12A1):c.2951G>A (p.Gly984Glu)
NM_004370.6(COL12A1):c.2957C>A (p.Pro986His)
NM_004370.6(COL12A1):c.2965G>A (p.Gly989Arg) rs139332405
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr) rs201996851
NM_004370.6(COL12A1):c.2984-2A>G rs760316411
NM_004370.6(COL12A1):c.2987C>T (p.Ser996Phe)
NM_004370.6(COL12A1):c.29_30delinsAA (p.Ala10Glu) rs1562335715
NM_004370.6(COL12A1):c.3034A>G (p.Met1012Val) rs1188543260
NM_004370.6(COL12A1):c.3044C>A (p.Thr1015Lys)
NM_004370.6(COL12A1):c.3069C>T (p.Val1023=) rs746395625
NM_004370.6(COL12A1):c.3070G>A (p.Val1024Ile)
NM_004370.6(COL12A1):c.3085G>A (p.Val1029Ile) rs1582147115
NM_004370.6(COL12A1):c.3086T>C (p.Val1029Ala) rs1582147110
NM_004370.6(COL12A1):c.3091C>T (p.Arg1031Cys)
NM_004370.6(COL12A1):c.3092G>A (p.Arg1031His) rs752304678
NM_004370.6(COL12A1):c.3099T>C (p.His1033=) rs751065518
NM_004370.6(COL12A1):c.3130C>G (p.Pro1044Ala) rs200490883
NM_004370.6(COL12A1):c.3151G>C (p.Val1051Leu) rs374540275
NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val) rs201852681
NM_004370.6(COL12A1):c.3219A>G (p.Glu1073=) rs201270183
NM_004370.6(COL12A1):c.3245C>G (p.Thr1082Arg) rs762817385
NM_004370.6(COL12A1):c.3247A>G (p.Thr1083Ala)
NM_004370.6(COL12A1):c.3296C>A (p.Thr1099Asn) rs768943327
NM_004370.6(COL12A1):c.32C>T (p.Ala11Val)
NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter) rs1329022055
NM_004370.6(COL12A1):c.3329C>A (p.Ala1110Asp)
NM_004370.6(COL12A1):c.3331C>G (p.Pro1111Ala)
NM_004370.6(COL12A1):c.334+4A>T
NM_004370.6(COL12A1):c.3350A>G (p.Tyr1117Cys) rs1582145759
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys) rs373637483
NM_004370.6(COL12A1):c.3396G>C (p.Glu1132Asp)
NM_004370.6(COL12A1):c.344G>A (p.Gly115Asp)
NM_004370.6(COL12A1):c.3466A>C (p.Asn1156His)
NM_004370.6(COL12A1):c.3467A>T (p.Asn1156Ile) rs759294983
NM_004370.6(COL12A1):c.3485A>C (p.Asp1162Ala)
NM_004370.6(COL12A1):c.3485A>T (p.Asp1162Val) rs770692332
NM_004370.6(COL12A1):c.3517G>C (p.Glu1173Gln)
NM_004370.6(COL12A1):c.3527C>A (p.Thr1176Asn)
NM_004370.6(COL12A1):c.3534C>T (p.Ser1178=) rs747982811
NM_004370.6(COL12A1):c.3562T>C (p.Ser1188Pro)
NM_004370.6(COL12A1):c.3566G>A (p.Gly1189Glu)
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile) rs536615203
NM_004370.6(COL12A1):c.3592G>A (p.Ala1198Thr) rs752018748
NM_004370.6(COL12A1):c.3630C>T (p.Ile1210=) rs572531941
NM_004370.6(COL12A1):c.3634C>T (p.Arg1212Trp)
NM_004370.6(COL12A1):c.3638C>A (p.Ala1213Glu) rs886380438
NM_004370.6(COL12A1):c.3650C>A (p.Thr1217Asn) rs1436778165
NM_004370.6(COL12A1):c.3651C>T (p.Thr1217=) rs140319205
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met) rs201749138
NM_004370.6(COL12A1):c.3670C>T (p.Arg1224Cys) rs748277540
NM_004370.6(COL12A1):c.3671G>A (p.Arg1224His)
NM_004370.6(COL12A1):c.3691A>G (p.Ile1231Val) rs1449618151
NM_004370.6(COL12A1):c.3736G>A (p.Asp1246Asn) rs1582139804
NM_004370.6(COL12A1):c.3741C>T (p.Pro1247=) rs371282637
NM_004370.6(COL12A1):c.3758T>G (p.Leu1253Ter) rs1582139761
NM_004370.6(COL12A1):c.3767A>G (p.His1256Arg)
NM_004370.6(COL12A1):c.3767A>T (p.His1256Leu) rs199692759
NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu) rs375043994
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn) rs370339027
NM_004370.6(COL12A1):c.3798G>C (p.Val1266=) rs1210652893
NM_004370.6(COL12A1):c.3810G>A (p.Pro1270=) rs370675782
NM_004370.6(COL12A1):c.3814A>G (p.Lys1272Glu) rs1562233846
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala) rs377553583
NM_004370.6(COL12A1):c.3835+4A>G rs187358458
NM_004370.6(COL12A1):c.383C>T (p.Thr128Ile)
NM_004370.6(COL12A1):c.384C>T (p.Thr128=) rs200378966
NM_004370.6(COL12A1):c.3856C>T (p.Arg1286Cys) rs764448554
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His) rs191757914
NM_004370.6(COL12A1):c.3861A>G (p.Gln1287=)
NM_004370.6(COL12A1):c.3892C>A (p.Pro1298Thr) rs376766442
NM_004370.6(COL12A1):c.3899C>T (p.Ala1300Val) rs199757996
NM_004370.6(COL12A1):c.3905A>G (p.Lys1302Arg) rs1179021269
NM_004370.6(COL12A1):c.3928G>C (p.Gly1310Arg) rs1260669878
NM_004370.6(COL12A1):c.393A>C (p.Gln131His)
NM_004370.6(COL12A1):c.395-2A>C rs1562310723
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val) rs759722280
NM_004370.6(COL12A1):c.3994del (p.Ala1332fs) rs1554182935
NM_004370.6(COL12A1):c.4000+4C>G rs375772555
NM_004370.6(COL12A1):c.4000+5G>A rs181257320
NM_004370.6(COL12A1):c.4001-10G>A rs73749974
NM_004370.6(COL12A1):c.4003A>T (p.Ile1335Phe) rs1554182853
NM_004370.6(COL12A1):c.4010A>G (p.Asn1337Ser) rs1187079906
NM_004370.6(COL12A1):c.401C>T (p.Ser134Phe) rs1346687171
NM_004370.6(COL12A1):c.403G>T (p.Val135Phe) rs377551270
NM_004370.6(COL12A1):c.4042A>G (p.Thr1348Ala)
NM_004370.6(COL12A1):c.4051G>A (p.Asp1351Asn)
NM_004370.6(COL12A1):c.4052A>G (p.Asp1351Gly) rs1295465247
NM_004370.6(COL12A1):c.4070A>G (p.Asn1357Ser) rs1562230954
NM_004370.6(COL12A1):c.4101A>G (p.Ile1367Met)
NM_004370.6(COL12A1):c.4133G>A (p.Ser1378Asn)
NM_004370.6(COL12A1):c.4148-4G>A rs146899194
NM_004370.6(COL12A1):c.4165_4167del (p.Ser1389del)
NM_004370.6(COL12A1):c.4172dup (p.Leu1391fs) rs1582133194
NM_004370.6(COL12A1):c.4177A>G (p.Ile1393Val) rs1582133150
NM_004370.6(COL12A1):c.4177del (p.Ile1393fs)
NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=) rs115511838
NM_004370.6(COL12A1):c.4187G>A (p.Arg1396Gln) rs370549168
NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His)
NM_004370.6(COL12A1):c.4223C>T (p.Pro1408Leu)
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter)
NM_004370.6(COL12A1):c.4241G>A (p.Arg1414Gln)
NM_004370.6(COL12A1):c.4245T>C (p.Tyr1415=) rs34830422
NM_004370.6(COL12A1):c.4255T>A (p.Tyr1419Asn) rs758640189
NM_004370.6(COL12A1):c.4255T>G (p.Tyr1419Asp)
NM_004370.6(COL12A1):c.4280G>A (p.Arg1427His)
NM_004370.6(COL12A1):c.4286A>T (p.Glu1429Val)
NM_004370.6(COL12A1):c.4287+4A>T
NM_004370.6(COL12A1):c.42G>A (p.Ala14=) rs758961396
NM_004370.6(COL12A1):c.4300C>T (p.Arg1434Ter) rs1562223444
NM_004370.6(COL12A1):c.4301G>A (p.Arg1434Gln)
NM_004370.6(COL12A1):c.4312A>G (p.Ser1438Gly) rs201651899
NM_004370.6(COL12A1):c.4313G>A (p.Ser1438Asn) rs889393418
NM_004370.6(COL12A1):c.4319T>A (p.Val1440Glu)
NM_004370.6(COL12A1):c.432C>T (p.Leu144=) rs528524927
NM_004370.6(COL12A1):c.4335A>G (p.Lys1445=) rs113549828
NM_004370.6(COL12A1):c.4364A>G (p.Tyr1455Cys) rs1582131685
NM_004370.6(COL12A1):c.436G>T (p.Asp146Tyr)
NM_004370.6(COL12A1):c.4371G>T (p.Val1457=) rs761741355
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser) rs1453508139
NM_004370.6(COL12A1):c.4414dup (p.Thr1472fs)
NM_004370.6(COL12A1):c.4428T>C (p.Pro1476=) rs1554182178
NM_004370.6(COL12A1):c.4429G>A (p.Val1477Ile)
NM_004370.6(COL12A1):c.4445T>C (p.Ile1482Thr) rs760640025
NM_004370.6(COL12A1):c.4452T>C (p.Asp1484=) rs202092920
NM_004370.6(COL12A1):c.4479G>A (p.Gln1493=) rs370024636
NM_004370.6(COL12A1):c.4510A>G (p.Ile1504Val) rs1582129070
NM_004370.6(COL12A1):c.4520A>G (p.Tyr1507Cys)
NM_004370.6(COL12A1):c.4556A>T (p.Lys1519Ile)
NM_004370.6(COL12A1):c.4564C>G (p.Arg1522Gly)
NM_004370.6(COL12A1):c.4565G>A (p.Arg1522His) rs751419788
NM_004370.6(COL12A1):c.4571G>A (p.Gly1524Glu)
NM_004370.6(COL12A1):c.4579G>A (p.Val1527Met) rs1326246352
NM_004370.6(COL12A1):c.4587C>T (p.Asp1529=) rs762128925
NM_004370.6(COL12A1):c.4588A>T (p.Met1530Leu)
NM_004370.6(COL12A1):c.4589T>A (p.Met1530Lys)
NM_004370.6(COL12A1):c.4609C>T (p.Pro1537Ser)
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser) rs115246424
NM_004370.6(COL12A1):c.4616C>T (p.Thr1539Met)
NM_004370.6(COL12A1):c.4630A>G (p.Thr1544Ala)
NM_004370.6(COL12A1):c.4651G>A (p.Asp1551Asn)
NM_004370.6(COL12A1):c.4657A>T (p.Thr1553Ser)
NM_004370.6(COL12A1):c.4675G>A (p.Val1559Ile)
NM_004370.6(COL12A1):c.4676T>C (p.Val1559Ala) rs1562217199
NM_004370.6(COL12A1):c.4678C>T (p.Arg1560Trp) rs370360673
NM_004370.6(COL12A1):c.4689C>T (p.Thr1563=)
NM_004370.6(COL12A1):c.4691T>C (p.Leu1564Ser) rs1554181762
NM_004370.6(COL12A1):c.469A>G (p.Lys157Glu) rs373002461
NM_004370.6(COL12A1):c.4701C>G (p.Pro1567=) rs17791238
NM_004370.6(COL12A1):c.4713T>A (p.Asp1571Glu)
NM_004370.6(COL12A1):c.4723A>G (p.Arg1575Gly) rs1490798316
NM_004370.6(COL12A1):c.4738del (p.Ser1580fs) rs1471550984
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924
NM_004370.6(COL12A1):c.4759G>C (p.Glu1587Gln)
NM_004370.6(COL12A1):c.475A>G (p.Ile159Val) rs548978005
NM_004370.6(COL12A1):c.4762C>A (p.Pro1588Thr)
NM_004370.6(COL12A1):c.4789A>G (p.Ile1597Val)
NM_004370.6(COL12A1):c.4797A>T (p.Arg1599=) rs1025841228
NM_004370.6(COL12A1):c.4798T>C (p.Tyr1600His) rs180718181
NM_004370.6(COL12A1):c.4807C>G (p.Pro1603Ala) rs200034130
NM_004370.6(COL12A1):c.4853G>T (p.Ser1618Ile) rs765702033
NM_004370.6(COL12A1):c.4864A>G (p.Lys1622Glu) rs754277446
NM_004370.6(COL12A1):c.4876T>G (p.Ser1626Ala) rs77654847
NM_004370.6(COL12A1):c.4888T>C (p.Tyr1630His) rs759038011
NM_004370.6(COL12A1):c.4917C>T (p.Asp1639=) rs80102965
NM_004370.6(COL12A1):c.4918G>A (p.Glu1640Lys) rs780206104
NM_004370.6(COL12A1):c.4936G>C (p.Val1646Leu) rs779002973
NM_004370.6(COL12A1):c.4958-7A>C rs1332779
NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=) rs771078518
NM_004370.6(COL12A1):c.4963G>A (p.Val1655Met)
NM_004370.6(COL12A1):c.4991C>A (p.Thr1664Asn) rs754587593
NM_004370.6(COL12A1):c.4995A>C (p.Glu1665Asp) rs1582115930
NM_004370.6(COL12A1):c.5005G>C (p.Glu1669Gln) rs181511246
NM_004370.6(COL12A1):c.5069C>T (p.Ala1690Val)
NM_004370.6(COL12A1):c.5075T>C (p.Phe1692Ser) rs759692428
NM_004370.6(COL12A1):c.5085A>G (p.Ser1695=) rs190018580
NM_004370.6(COL12A1):c.5093T>C (p.Met1698Thr) rs749443694
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys) rs767343975
NM_004370.6(COL12A1):c.5126T>C (p.Leu1709Ser) rs201810535
NM_004370.6(COL12A1):c.5133C>T (p.Phe1711=) rs180961776
NM_004370.6(COL12A1):c.5138A>G (p.Asn1713Ser) rs373020081
NM_004370.6(COL12A1):c.5180T>G (p.Ile1727Ser)
NM_004370.6(COL12A1):c.5184T>C (p.Tyr1728=) rs767349975
NM_004370.6(COL12A1):c.5187T>A (p.Pro1729=)
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly) rs762021815
NM_004370.6(COL12A1):c.5208C>A (p.Asp1736Glu) rs776561287
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys) rs200201449
NM_004370.6(COL12A1):c.5224C>T (p.Arg1742Cys) rs530680231
NM_004370.6(COL12A1):c.5225G>A (p.Arg1742His) rs79830915
NM_004370.6(COL12A1):c.5230+1G>A rs1274606112
NM_004370.6(COL12A1):c.5230C>T (p.Leu1744=) rs552834799
NM_004370.6(COL12A1):c.5251+4A>G rs781348212
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829
NM_004370.6(COL12A1):c.5308A>G (p.Thr1770Ala) rs192345009
NM_004370.6(COL12A1):c.5335C>T (p.Arg1779Cys) rs760210784
NM_004370.6(COL12A1):c.5338G>A (p.Val1780Met)
NM_004370.6(COL12A1):c.5340G>A (p.Val1780=) rs371016672
NM_004370.6(COL12A1):c.5348A>G (p.Tyr1783Cys) rs368526865
NM_004370.6(COL12A1):c.5352G>A (p.Arg1784=) rs1372127467
NM_004370.6(COL12A1):c.5366C>T (p.Pro1789Leu)
NM_004370.6(COL12A1):c.5393C>A (p.Thr1798Lys)
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331
NM_004370.6(COL12A1):c.5394+10T>A rs890398079
NM_004370.6(COL12A1):c.5402T>C (p.Ile1801Thr) rs200317239
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln) rs200091648
NM_004370.6(COL12A1):c.5432A>G (p.Gln1811Arg) rs558214604
NM_004370.6(COL12A1):c.5449A>G (p.Thr1817Ala)
NM_004370.6(COL12A1):c.544G>A (p.Val182Ile)
NM_004370.6(COL12A1):c.5458A>G (p.Thr1820Ala) rs1461567926
NM_004370.6(COL12A1):c.5460T>A (p.Thr1820=) rs1003584679
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile) rs201408175
NM_004370.6(COL12A1):c.5475T>G (p.Ser1825=) rs766269568
NM_004370.6(COL12A1):c.5493A>G (p.Glu1831=)
NM_004370.6(COL12A1):c.5500C>G (p.Arg1834Gly)
NM_004370.6(COL12A1):c.5501G>A (p.Arg1834Gln) rs182768408
NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met)
NM_004370.6(COL12A1):c.5508G>A (p.Thr1836=) rs77425231
NM_004370.6(COL12A1):c.5515G>A (p.Gly1839Ser)
NM_004370.6(COL12A1):c.553A>T (p.Ser185Cys)
NM_004370.6(COL12A1):c.5547C>A (p.Asn1849Lys) rs1235141094
NM_004370.6(COL12A1):c.5563C>A (p.Pro1855Thr)
NM_004370.6(COL12A1):c.5569A>G (p.Thr1857Ala)
NM_004370.6(COL12A1):c.5582A>G (p.Asn1861Ser) rs1160822324
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala) rs200029869
NM_004370.6(COL12A1):c.5587C>T (p.Arg1863Cys) rs201372309
NM_004370.6(COL12A1):c.5603A>G (p.Glu1868Gly)
NM_004370.6(COL12A1):c.5603A>T (p.Glu1868Val) rs1370422060
NM_004370.6(COL12A1):c.5615G>A (p.Arg1872His) rs770194625
NM_004370.6(COL12A1):c.562A>G (p.Thr188Ala) rs767796362
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr) rs184585202
NM_004370.6(COL12A1):c.5645C>T (p.Ala1882Val) rs565471668
NM_004370.6(COL12A1):c.5676C>T (p.Pro1892=) rs200130428
NM_004370.6(COL12A1):c.5713C>T (p.Pro1905Ser)
NM_004370.6(COL12A1):c.5727C>T (p.Tyr1909=) rs146146364
NM_004370.6(COL12A1):c.5752A>G (p.Thr1918Ala)
NM_004370.6(COL12A1):c.5761G>A (p.Asp1921Asn)
NM_004370.6(COL12A1):c.5763T>C (p.Asp1921=) rs144223578
NM_004370.6(COL12A1):c.5767G>A (p.Gly1923Arg) rs764600940
NM_004370.6(COL12A1):c.5770C>T (p.Arg1924Cys)
NM_004370.6(COL12A1):c.5793A>G (p.Thr1931=)
NM_004370.6(COL12A1):c.5795-5C>T rs768037406
NM_004370.6(COL12A1):c.5809G>A (p.Ala1937Thr)
NM_004370.6(COL12A1):c.5816A>C (p.Asn1939Thr)
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787
NM_004370.6(COL12A1):c.5839C>T (p.Pro1947Ser)
NM_004370.6(COL12A1):c.5840C>T (p.Pro1947Leu) rs768626277
NM_004370.6(COL12A1):c.5851G>A (p.Asp1951Asn)
NM_004370.6(COL12A1):c.5859C>T (p.Arg1953=) rs534462036
NM_004370.6(COL12A1):c.5873C>G (p.Pro1958Arg) rs755452261
NM_004370.6(COL12A1):c.5874A>G (p.Pro1958=) rs186035636
NM_004370.6(COL12A1):c.5881G>A (p.Val1961Met) rs536233725
NM_004370.6(COL12A1):c.5883G>C (p.Val1961=) rs368930149
NM_004370.6(COL12A1):c.5889A>G (p.Gln1963=)
NM_004370.6(COL12A1):c.5893C>A (p.Arg1965Ser) rs200487396
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys) rs200487396
NM_004370.6(COL12A1):c.5895C>T (p.Arg1965=) rs376241836
NM_004370.6(COL12A1):c.5939T>G (p.Ile1980Arg)
NM_004370.6(COL12A1):c.5940_5942AGT[1] (p.Val1982del)
NM_004370.6(COL12A1):c.5954A>G (p.Asn1985Ser) rs373170333
NM_004370.6(COL12A1):c.5959C>T (p.Arg1987Cys)
NM_004370.6(COL12A1):c.5978G>A (p.Arg1993Gln) rs748657616
NM_004370.6(COL12A1):c.597A>G (p.Gln199=) rs368715192
NM_004370.6(COL12A1):c.5987C>T (p.Pro1996Leu) rs752189896
NM_004370.6(COL12A1):c.6004G>A (p.Val2002Met)
NM_004370.6(COL12A1):c.6026C>T (p.Ser2009Leu) rs776981761
NM_004370.6(COL12A1):c.6030T>G (p.Asp2010Glu)
NM_004370.6(COL12A1):c.6062G>A (p.Arg2021Gln) rs34438461
NM_004370.6(COL12A1):c.6066G>A (p.Thr2022=) rs754929219
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser) rs771186535
NM_004370.6(COL12A1):c.6074G>A (p.Arg2025His) rs34336755
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile) rs375673671
NM_004370.6(COL12A1):c.6100T>C (p.Phe2034Leu) rs1488658209
NM_004370.6(COL12A1):c.6114C>A (p.Thr2038=) rs1248355913
NM_004370.6(COL12A1):c.6120C>T (p.Ser2040=) rs200570792
NM_004370.6(COL12A1):c.6125C>A (p.Ser2042Ter)
NM_004370.6(COL12A1):c.6147T>C (p.Asp2049=) rs200777154
NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp) rs947116571
NM_004370.6(COL12A1):c.6196C>A (p.Pro2066Thr)
NM_004370.6(COL12A1):c.6198A>C (p.Pro2066=) rs34619869
NM_004370.6(COL12A1):c.6199A>G (p.Ile2067Val)
NM_004370.6(COL12A1):c.6200T>C (p.Ile2067Thr)
NM_004370.6(COL12A1):c.6211A>G (p.Thr2071Ala) rs1390899930
NM_004370.6(COL12A1):c.6224G>A (p.Gly2075Asp)
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr) rs75535959
NM_004370.6(COL12A1):c.6281C>A (p.Thr2094Asn) rs201567848
NM_004370.6(COL12A1):c.62T>C (p.Ile21Thr) rs576888932
NM_004370.6(COL12A1):c.6341-9T>A
NM_004370.6(COL12A1):c.6345A>G (p.Gly2115=) rs553575841
NM_004370.6(COL12A1):c.641G>T (p.Gly214Val) rs1582209053
NM_004370.6(COL12A1):c.6422C>T (p.Ser2141Phe)
NM_004370.6(COL12A1):c.6444A>T (p.Ile2148=) rs36002196
NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His) rs200450866
NM_004370.6(COL12A1):c.6475A>T (p.Met2159Leu) rs1582089675
NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val) rs35523808
NM_004370.6(COL12A1):c.6540C>T (p.Tyr2180=) rs372703375
NM_004370.6(COL12A1):c.6541G>A (p.Asp2181Asn)
NM_004370.6(COL12A1):c.6574C>T (p.Leu2192Phe)
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile) rs117038107
NM_004370.6(COL12A1):c.6597A>G (p.Gln2199=)
NM_004370.6(COL12A1):c.6608T>C (p.Leu2203Ser) rs370244195
NM_004370.6(COL12A1):c.6612T>A (p.Tyr2204Ter)
NM_004370.6(COL12A1):c.6618T>C (p.Asn2206=) rs1035643006
NM_004370.6(COL12A1):c.6640C>G (p.Gln2214Glu)
NM_004370.6(COL12A1):c.6641A>G (p.Gln2214Arg) rs41269303
NM_004370.6(COL12A1):c.6647G>A (p.Gly2216Glu)
NM_004370.6(COL12A1):c.6652G>C (p.Asp2218His) rs374545461
NM_004370.6(COL12A1):c.6660C>G (p.Phe2220Leu) rs1562164671
NM_004370.6(COL12A1):c.6682C>T (p.Arg2228Trp)
NM_004370.6(COL12A1):c.6683G>A (p.Arg2228Gln) rs1253362145
NM_004370.6(COL12A1):c.66G>A (p.Glu22=) rs369544130
NM_004370.6(COL12A1):c.6718G>A (p.Ala2240Thr) rs199654252
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile)
NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His) rs151324784
NM_004370.6(COL12A1):c.6808G>C (p.Val2270Leu)
NM_004370.6(COL12A1):c.6814G>A (p.Val2272Ile)
NM_004370.6(COL12A1):c.6848G>A (p.Gly2283Glu) rs77094372
NM_004370.6(COL12A1):c.6859A>G (p.Lys2287Glu) rs775646975
NM_004370.6(COL12A1):c.6874G>A (p.Val2292Met)
NM_004370.6(COL12A1):c.6889G>A (p.Ala2297Thr) rs1562162215
NM_004370.6(COL12A1):c.6908C>G (p.Thr2303Arg)
NM_004370.6(COL12A1):c.6914C>T (p.Pro2305Leu)
NM_004370.6(COL12A1):c.6916C>T (p.Pro2306Ser) rs1554171436
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser) rs758186176
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127
NM_004370.6(COL12A1):c.6928A>G (p.Ile2310Val) rs752850582
NM_004370.6(COL12A1):c.6940C>T (p.Arg2314Trp) rs368686970
NM_004370.6(COL12A1):c.6946+5G>A rs1582086058
NM_004370.6(COL12A1):c.6946G>C (p.Val2316Leu)
NM_004370.6(COL12A1):c.6947-6T>C rs200538799
NM_004370.6(COL12A1):c.6947-6T>G
NM_004370.6(COL12A1):c.695C>T (p.Thr232Met) rs200443479
NM_004370.6(COL12A1):c.6961A>G (p.Lys2321Glu)
NM_004370.6(COL12A1):c.6985G>C (p.Asp2329His)
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) rs796052093
NM_004370.6(COL12A1):c.7006G>T (p.Asp2336Tyr)
NM_004370.6(COL12A1):c.7008C>T (p.Asp2336=) rs377413592
NM_004370.6(COL12A1):c.7009G>A (p.Asp2337Asn) rs772161963
NM_004370.6(COL12A1):c.7025T>C (p.Val2342Ala) rs778958906
NM_004370.6(COL12A1):c.7045A>G (p.Thr2349Ala)
NM_004370.6(COL12A1):c.7046C>T (p.Thr2349Ile)
NM_004370.6(COL12A1):c.7048G>T (p.Val2350Leu) rs755159927
NM_004370.6(COL12A1):c.7065A>C (p.Glu2355Asp) rs1055080261
NM_004370.6(COL12A1):c.713G>C (p.Arg238Thr) rs1554188387
NM_004370.6(COL12A1):c.7140G>A (p.Thr2380=) rs200230227
NM_004370.6(COL12A1):c.7210+4T>G rs201950823
NM_004370.6(COL12A1):c.7210+9A>G
NM_004370.6(COL12A1):c.7215G>C (p.Lys2405Asn)
NM_004370.6(COL12A1):c.7223C>G (p.Thr2408Arg) rs141593495
NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met) rs141593495
NM_004370.6(COL12A1):c.7264A>G (p.Arg2422Gly)
NM_004370.6(COL12A1):c.7269G>A (p.Lys2423=) rs776372586
NM_004370.6(COL12A1):c.7270A>C (p.Asn2424His)
NM_004370.6(COL12A1):c.7299G>A (p.Thr2433=) rs35551395
NM_004370.6(COL12A1):c.7299G>T (p.Thr2433=) rs35551395
NM_004370.6(COL12A1):c.7318G>A (p.Glu2440Lys)
NM_004370.6(COL12A1):c.732G>A (p.Val244=) rs200141559
NM_004370.6(COL12A1):c.7338G>T (p.Leu2446Phe) rs763858637
NM_004370.6(COL12A1):c.7354+10T>A rs199945254
NM_004370.6(COL12A1):c.7355-9A>G rs145346828
NM_004370.6(COL12A1):c.7355G>T (p.Gly2452Val) rs1224729276
NM_004370.6(COL12A1):c.741T>G (p.Ile247Met) rs371124522
NM_004370.6(COL12A1):c.7433G>A (p.Arg2478Gln)
NM_004370.6(COL12A1):c.7438G>A (p.Val2480Met)
NM_004370.6(COL12A1):c.743T>C (p.Ile248Thr) rs199673248
NM_004370.6(COL12A1):c.7460A>C (p.Glu2487Ala)
NM_004370.6(COL12A1):c.7477G>A (p.Glu2493Lys) rs372985511
NM_004370.6(COL12A1):c.7497T>G (p.Phe2499Leu)
NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly) rs202109365
NM_004370.6(COL12A1):c.7550C>G (p.Thr2517Ser)
NM_004370.6(COL12A1):c.7569G>A (p.Met2523Ile) rs371624564
NM_004370.6(COL12A1):c.7576_7577delinsTT (p.Ala2526Leu)
NM_004370.6(COL12A1):c.7583A>G (p.Asn2528Ser)
NM_004370.6(COL12A1):c.7656A>G (p.Ala2552=) rs763305624
NM_004370.6(COL12A1):c.7690C>T (p.Pro2564Ser) rs199724285
NM_004370.6(COL12A1):c.7697C>T (p.Ala2566Val)
NM_004370.6(COL12A1):c.7698-3C>T
NM_004370.6(COL12A1):c.7724C>A (p.Pro2575His)
NM_004370.6(COL12A1):c.7756C>G (p.Leu2586Val)
NM_004370.6(COL12A1):c.7763A>C (p.Glu2588Ala)
NM_004370.6(COL12A1):c.7786A>G (p.Ile2596Val) rs35710072
NM_004370.6(COL12A1):c.7800A>G (p.Thr2600=) rs370691983
NM_004370.6(COL12A1):c.7804A>G (p.Arg2602Gly)
NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln)
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser)
NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met) rs201988277
NM_004370.6(COL12A1):c.7854G>C (p.Thr2618=) rs190984968
NM_004370.6(COL12A1):c.785G>A (p.Arg262Lys) rs1554188366
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277
NM_004370.6(COL12A1):c.7883G>C (p.Gly2628Ala) rs1582069073
NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys) rs147044263
NM_004370.6(COL12A1):c.7893A>G (p.Gln2631=) rs1015843320
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala) rs200408101
NM_004370.6(COL12A1):c.7925_7926del (p.Thr2642fs) rs1582068925
NM_004370.6(COL12A1):c.7927T>G (p.Leu2643Val)
NM_004370.6(COL12A1):c.794G>A (p.Arg265His)
NM_004370.6(COL12A1):c.7951G>T (p.Val2651Phe)
NM_004370.6(COL12A1):c.7990A>G (p.Ile2664Val) rs41266763
NM_004370.6(COL12A1):c.8040A>G (p.Ile2680Met)
NM_004370.6(COL12A1):c.8059A>T (p.Ile2687Phe) rs1391973492
NM_004370.6(COL12A1):c.8100+2T>C
NM_004370.6(COL12A1):c.8119G>T (p.Asp2707Tyr)
NM_004370.6(COL12A1):c.8178G>A (p.Arg2726=)
NM_004370.6(COL12A1):c.8179-10A>G rs142509363
NM_004370.6(COL12A1):c.8179-2A>G
NM_004370.6(COL12A1):c.8185G>A (p.Glu2729Lys) rs200693552
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939
NM_004370.6(COL12A1):c.8249G>C (p.Gly2750Ala) rs1582055239
NM_004370.6(COL12A1):c.8276G>A (p.Gly2759Asp) rs1554168599
NM_004370.6(COL12A1):c.8290A>G (p.Arg2764Gly)
NM_004370.6(COL12A1):c.8319+1G>C
NM_004370.6(COL12A1):c.8320G>T (p.Gly2774Trp)
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His) rs190917891
NM_004370.6(COL12A1):c.834T>G (p.Ala278=) rs16886258
NM_004370.6(COL12A1):c.8351C>T (p.Pro2784Leu)
NM_004370.6(COL12A1):c.8361_8378del (p.2785_2790PGPQGP[1]) rs1562116272
NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg)
NM_004370.6(COL12A1):c.8369C>T (p.Pro2790Leu) rs755342579
NM_004370.6(COL12A1):c.8383G>T (p.Gly2795Ter)
NM_004370.6(COL12A1):c.8390A>G (p.Asn2797Ser)
NM_004370.6(COL12A1):c.8392G>A (p.Gly2798Arg) rs1582050802
NM_004370.6(COL12A1):c.8405C>T (p.Pro2802Leu) rs200646131
NM_004370.6(COL12A1):c.8406G>A (p.Pro2802=)
NM_004370.6(COL12A1):c.8415+1G>C
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His) rs186328815
NM_004370.6(COL12A1):c.8421C>T (p.Arg2807=) rs371949188
NM_004370.6(COL12A1):c.8441C>G (p.Ala2814Gly)
NM_004370.6(COL12A1):c.8465G>A (p.Arg2822Gln) rs756809634
NM_004370.6(COL12A1):c.8469+10T>C rs375332527
NM_004370.6(COL12A1):c.8474C>A (p.Thr2825Asn) rs1280191331
NM_004370.6(COL12A1):c.848A>T (p.Glu283Val) rs1554188241
NM_004370.6(COL12A1):c.8495C>G (p.Pro2832Arg) rs779184954
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg) rs199693016
NM_004370.6(COL12A1):c.8524-3T>C rs755782718
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val) rs369104842
NM_004370.6(COL12A1):c.8554C>T (p.Pro2852Ser)
NM_004370.6(COL12A1):c.856C>G (p.Gln286Glu) rs369360559
NM_004370.6(COL12A1):c.8577+4A>G rs1562105188
NM_004370.6(COL12A1):c.8577G>A (p.Pro2859=)
NM_004370.6(COL12A1):c.8578-4G>A rs780000164
NM_004370.6(COL12A1):c.8579G>C (p.Gly2860Ala) rs758378155
NM_004370.6(COL12A1):c.8582G>A (p.Ser2861Asn) rs148065232
NM_004370.6(COL12A1):c.8592C>G (p.Ser2864=) rs372700355
NM_004370.6(COL12A1):c.8622A>G (p.Pro2874=) rs368321891
NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg) rs185171880
NM_004370.6(COL12A1):c.863C>T (p.Ala288Val) rs1385414325
NM_004370.6(COL12A1):c.8643C>T (p.Gly2881=)
NM_004370.6(COL12A1):c.8649A>C (p.Pro2883=)
NM_004370.6(COL12A1):c.8686-5A>T rs749754621
NM_004370.6(COL12A1):c.8695G>A (p.Ala2899Thr)
NM_004370.6(COL12A1):c.8699C>T (p.Ser2900Phe) rs1198783904
NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter) rs371399251
NM_004370.6(COL12A1):c.8751T>A (p.Ser2917Arg) rs1562093184
NM_004370.6(COL12A1):c.8762A>T (p.Asn2921Ile)
NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys) rs778941390
NM_004370.6(COL12A1):c.8813G>T (p.Arg2938Leu) rs752206319
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu) rs199702595
NM_004370.6(COL12A1):c.8841G>A (p.Pro2947=) rs767339128
NM_004370.6(COL12A1):c.8858C>T (p.Ala2953Val) rs1554166746
NM_004370.6(COL12A1):c.8875C>T (p.Pro2959Ser) rs1562090566
NM_004370.6(COL12A1):c.887T>G (p.Val296Gly)
NM_004370.6(COL12A1):c.8885G>C (p.Gly2962Ala) rs761885492
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=) rs373455368
NM_004370.6(COL12A1):c.8891G>T (p.Arg2964Leu)
NM_004370.6(COL12A1):c.8903C>T (p.Pro2968Leu)
NM_004370.6(COL12A1):c.8904G>A (p.Pro2968=) rs181007051
NM_004370.6(COL12A1):c.8915G>A (p.Gly2972Glu) rs1582030236
NM_004370.6(COL12A1):c.8925A>G (p.Gly2975=) rs190820180
NM_004370.6(COL12A1):c.892A>C (p.Asn298His)
NM_004370.6(COL12A1):c.8953G>A (p.Glu2985Lys)
NM_004370.6(COL12A1):c.8970T>C (p.Gly2990=) rs190501064
NM_004370.6(COL12A1):c.8980T>C (p.Ser2994Pro) rs34846477
NM_004370.6(COL12A1):c.8990G>A (p.Arg2997Gln)
NM_004370.6(COL12A1):c.89A>G (p.Asp30Gly) rs1582219536
NM_004370.6(COL12A1):c.9006C>T (p.Pro3002=) rs184663595
NM_004370.6(COL12A1):c.9032C>T (p.Thr3011Ile)
NM_004370.6(COL12A1):c.9041C>T (p.Pro3014Leu)
NM_004370.6(COL12A1):c.9076C>G (p.Pro3026Ala) rs376189614
NM_004370.6(COL12A1):c.9077C>T (p.Pro3026Leu)
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761
NM_004370.6(COL12A1):c.9108A>G (p.Gly3036=) rs777425494
NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu) rs370090007
NM_004370.6(COL12A1):c.913A>G (p.Ile305Val)
NM_004370.6(COL12A1):c.9144G>C (p.Gln3048His)
NM_004370.6(COL12A1):c.9146G>A (p.Cys3049Tyr) rs1268620135
NM_004370.6(COL12A1):c.9162C>T (p.Tyr3054=) rs35292916
NM_004370.6(COL12A1):c.9165C>T (p.Asn3055=) rs369646700
NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser) rs746453262
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe) rs116980451
NM_004370.6(COL12A1):c.971T>G (p.Leu324Arg)
NM_004370.6(COL12A1):c.97T>G (p.Phe33Val)
NM_004370.6(COL12A1):c.982G>T (p.Val328Phe)
NM_004370.6(COL12A1):c.986G>A (p.Ser329Asn)
NM_004370.6(COL12A1):c.997+6T>C

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