Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.102946895_102946896delinsAACA645522725COL11A1c.3229_3230delinsTT (p.Pro1077Leu)
c.3112_3113delinsTT (p.Pro1038Leu)
c.3265_3266delinsTT (p.Pro1089Leu)
c.2881_2882delinsTT (p.Pro961Leu)
c.2563_2564delinsTT
c.1462_1463delinsTT (p.Pro488Leu)
c.817_818delinsTT (p.Pro273Leu)
n.3563_3564delinsTT
c.3382_3383delinsTT (p.Pro1128Leu)
c.3376_3377delinsTT (p.Pro1126Leu)
c.1780_1781delinsTT (p.Pro594Leu)
n.3589_3590delinsTT
 COSMIC COSMIC
1g.102946896G>ACA341171090COL11A1c.3229C>T (p.Pro1077Ser)
c.3112C>T (p.Pro1038Ser)
c.3265C>T (p.Pro1089Ser)
c.2881C>T (p.Pro961Ser)
c.2563C>T
c.1462C>T (p.Pro488Ser)
c.817C>T (p.Pro273Ser)
n.3563C>T
c.3382C>T (p.Pro1128Ser)
c.3376C>T (p.Pro1126Ser)
c.1780C>T (p.Pro594Ser)
n.3589C>T
 ClinVar gnomAD v4
1g.102946896G>CCA341171091COL11A1c.3229C>G (p.Pro1077Ala)
c.3112C>G (p.Pro1038Ala)
c.3265C>G (p.Pro1089Ala)
c.2881C>G (p.Pro961Ala)
c.2563C>G
c.1462C>G (p.Pro488Ala)
c.817C>G (p.Pro273Ala)
n.3563C>G
c.3382C>G (p.Pro1128Ala)
c.3376C>G (p.Pro1126Ala)
c.1780C>G (p.Pro594Ala)
n.3589C>G
 ClinVar dbSNP
1g.102946896G=CA1141998863COL11A1c.3229C= (p.Pro1077=)
c.3112C= (p.Pro1038=)
c.3265C= (p.Pro1089=)
c.2881C= (p.Pro961=)
c.2563C=
c.1462C= (p.Pro488=)
c.817C= (p.Pro273=)
n.3563C=
c.3382C= (p.Pro1128=)
c.3376C= (p.Pro1126=)
c.1780C= (p.Pro594=)
n.3589C=
1g.102946896G>TCA974092COL11A1c.3229C>A (p.Pro1077Thr)
c.3112C>A (p.Pro1038Thr)
c.3265C>A (p.Pro1089Thr)
c.2881C>A (p.Pro961Thr)
c.2563C>A
c.1462C>A (p.Pro488Thr)
c.817C>A (p.Pro273Thr)
n.3563C>A
c.3382C>A (p.Pro1128Thr)
c.3376C>A (p.Pro1126Thr)
c.1780C>A (p.Pro594Thr)
n.3589C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102946897G>ACA419205488COL11A1c.3228C>T (p.Arg1076=)
c.3111C>T (p.Arg1037=)
c.3264C>T (p.Arg1088=)
c.2880C>T (p.Arg960=)
c.2562C>T
c.1461C>T (p.Arg487=)
c.816C>T (p.Arg272=)
n.3562C>T
c.3381C>T (p.Arg1127=)
c.3375C>T (p.Arg1125=)
c.1779C>T (p.Arg593=)
n.3588C>T
 dbSNP gnomAD v4
1g.102946897G>CCA419205489COL11A1c.3228C>G (p.Arg1076=)
c.3111C>G (p.Arg1037=)
c.3264C>G (p.Arg1088=)
c.2880C>G (p.Arg960=)
c.2562C>G
c.1461C>G (p.Arg487=)
c.816C>G (p.Arg272=)
n.3562C>G
c.3381C>G (p.Arg1127=)
c.3375C>G (p.Arg1125=)
c.1779C>G (p.Arg593=)
n.3588C>G
1g.102946897G=CA1185258692COL11A1c.3228C= (p.Arg1076=)
c.3111C= (p.Arg1037=)
c.3264C= (p.Arg1088=)
c.2880C= (p.Arg960=)
c.2562C=
c.1461C= (p.Arg487=)
c.816C= (p.Arg272=)
n.3562C=
c.3381C= (p.Arg1127=)
c.3375C= (p.Arg1125=)
c.1779C= (p.Arg593=)
n.3588C=
1g.102946897G>TCA419205490COL11A1c.3228C>A (p.Arg1076=)
c.3111C>A (p.Arg1037=)
c.3264C>A (p.Arg1088=)
c.2880C>A (p.Arg960=)
c.2562C>A
c.1461C>A (p.Arg487=)
c.816C>A (p.Arg272=)
n.3562C>A
c.3381C>A (p.Arg1127=)
c.3375C>A (p.Arg1125=)
c.1779C>A (p.Arg593=)
n.3588C>A
1g.102946898C>ACA341171097COL11A1c.3227G>T (p.Arg1076Leu)
c.3110G>T (p.Arg1037Leu)
c.3263G>T (p.Arg1088Leu)
c.2879G>T (p.Arg960Leu)
c.2561G>T
c.1460G>T (p.Arg487Leu)
c.815G>T (p.Arg272Leu)
n.3561G>T
c.3380G>T (p.Arg1127Leu)
c.3374G>T (p.Arg1125Leu)
c.1778G>T (p.Arg593Leu)
n.3587G>T
 dbSNP gnomAD v2 gnomAD v4
1g.102946898C=CA1142242152COL11A1c.3227G= (p.Arg1076=)
c.3110G= (p.Arg1037=)
c.3263G= (p.Arg1088=)
c.2879G= (p.Arg960=)
c.2561G=
c.1460G= (p.Arg487=)
c.815G= (p.Arg272=)
n.3561G=
c.3380G= (p.Arg1127=)
c.3374G= (p.Arg1125=)
c.1778G= (p.Arg593=)
n.3587G=
1g.102946898C>GCA341171099COL11A1c.3227G>C (p.Arg1076Pro)
c.3110G>C (p.Arg1037Pro)
c.3263G>C (p.Arg1088Pro)
c.2879G>C (p.Arg960Pro)
c.2561G>C
c.1460G>C (p.Arg487Pro)
c.815G>C (p.Arg272Pro)
n.3561G>C
c.3380G>C (p.Arg1127Pro)
c.3374G>C (p.Arg1125Pro)
c.1778G>C (p.Arg593Pro)
n.3587G>C
1g.102946898C>TCA974093COL11A1c.3227G>A (p.Arg1076His)
c.3110G>A (p.Arg1037His)
c.3263G>A (p.Arg1088His)
c.2879G>A (p.Arg960His)
c.2561G>A
c.1460G>A (p.Arg487His)
c.815G>A (p.Arg272His)
n.3561G>A
c.3380G>A (p.Arg1127His)
c.3374G>A (p.Arg1125His)
c.1778G>A (p.Arg593His)
n.3587G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.102946899G>ACA341171106COL11A1c.3226C>T (p.Arg1076Cys)
c.3109C>T (p.Arg1037Cys)
c.3262C>T (p.Arg1088Cys)
c.2878C>T (p.Arg960Cys)
c.2560C>T
c.1459C>T (p.Arg487Cys)
c.814C>T (p.Arg272Cys)
n.3560C>T
c.3379C>T (p.Arg1127Cys)
c.3373C>T (p.Arg1125Cys)
c.1777C>T (p.Arg593Cys)
n.3586C>T
 ClinVar dbSNP gnomAD v4
1g.102946899G>CCA341171111COL11A1c.3226C>G (p.Arg1076Gly)
c.3109C>G (p.Arg1037Gly)
c.3262C>G (p.Arg1088Gly)
c.2878C>G (p.Arg960Gly)
c.2560C>G
c.1459C>G (p.Arg487Gly)
c.814C>G (p.Arg272Gly)
n.3560C>G
c.3379C>G (p.Arg1127Gly)
c.3373C>G (p.Arg1125Gly)
c.1777C>G (p.Arg593Gly)
n.3586C>G
1g.102946899G=CA1185258701COL11A1c.3226C= (p.Arg1076=)
c.3109C= (p.Arg1037=)
c.3262C= (p.Arg1088=)
c.2878C= (p.Arg960=)
c.2560C=
c.1459C= (p.Arg487=)
c.814C= (p.Arg272=)
n.3560C=
c.3379C= (p.Arg1127=)
c.3373C= (p.Arg1125=)
c.1777C= (p.Arg593=)
n.3586C=
1g.102946899G>TCA341171109COL11A1c.3226C>A (p.Arg1076Ser)
c.3109C>A (p.Arg1037Ser)
c.3262C>A (p.Arg1088Ser)
c.2878C>A (p.Arg960Ser)
c.2560C>A
c.1459C>A (p.Arg487Ser)
c.814C>A (p.Arg272Ser)
n.3560C>A
c.3379C>A (p.Arg1127Ser)
c.3373C>A (p.Arg1125Ser)
c.1777C>A (p.Arg593Ser)
n.3586C>A
 dbSNP gnomAD v4
1g.102946899_102946909delinsGCCCTGGTAAACA1185258698COL11A1c.3216_3226delinsTTTACCAGGGC (p.Gly1072=)
c.3099_3109delinsTTTACCAGGGC (p.Gly1033=)
c.3252_3262delinsTTTACCAGGGC (p.Gly1084=)
c.2868_2878delinsTTTACCAGGGC (p.Gly956=)
c.2550_2560delinsTTTACCAGGGC
c.1449_1459delinsTTTACCAGGGC (p.Gly483=)
c.804_814delinsTTTACCAGGGC (p.Gly268=)
n.3550_3560delinsTTTACCAGGGC
c.3369_3379delinsTTTACCAGGGC (p.Gly1123=)
c.3363_3373delinsTTTACCAGGGC (p.Gly1121=)
c.1767_1777delinsTTTACCAGGGC (p.Gly589=)
n.3576_3586delinsTTTACCAGGGC
1g.102946900C>ACA419205491COL11A1c.3225G>T (p.Gly1075=)
c.3108G>T (p.Gly1036=)
c.3261G>T (p.Gly1087=)
c.2877G>T (p.Gly959=)
c.2559G>T
c.1458G>T (p.Gly486=)
c.813G>T (p.Gly271=)
n.3559G>T
c.3378G>T (p.Gly1126=)
c.3372G>T (p.Gly1124=)
c.1776G>T (p.Gly592=)
n.3585G>T
 dbSNP
1g.102946900C>GCA419205492COL11A1c.3225G>C (p.Gly1075=)
c.3108G>C (p.Gly1036=)
c.3261G>C (p.Gly1087=)
c.2877G>C (p.Gly959=)
c.2559G>C
c.1458G>C (p.Gly486=)
c.813G>C (p.Gly271=)
n.3559G>C
c.3378G>C (p.Gly1126=)
c.3372G>C (p.Gly1124=)
c.1776G>C (p.Gly592=)
n.3585G>C
1g.102946900C>TCA419205493COL11A1c.3225G>A (p.Gly1075=)
c.3108G>A (p.Gly1036=)
c.3261G>A (p.Gly1087=)
c.2877G>A (p.Gly959=)
c.2559G>A
c.1458G>A (p.Gly486=)
c.813G>A (p.Gly271=)
n.3559G>A
c.3378G>A (p.Gly1126=)
c.3372G>A (p.Gly1124=)
c.1776G>A (p.Gly592=)
n.3585G>A
1g.102946902_102946911delCA1005160014COL11A1c.3216_3225del (p.Leu1073AlafsTer?)
c.3099_3108del (p.Leu1034AlafsTer?)
c.3252_3261del (p.Leu1085AlafsTer?)
c.2868_2877del (p.Leu957AlafsTer?)
c.2550_2559del
c.1449_1458del (p.Leu484AlafsTer?)
c.804_813del (p.Leu269AlafsTer?)
n.3550_3559del
c.3369_3378del (p.Leu1124AlafsTer?)
c.3363_3372del (p.Leu1122AlafsTer?)
c.1767_1776del (p.Leu590AlafsTer?)
n.3576_3585del
 dbSNP gnomAD v3 gnomAD v4
1g.102946901C>ACA341171114COL11A1c.3224G>T (p.Gly1075Val)
c.3107G>T (p.Gly1036Val)
c.3260G>T (p.Gly1087Val)
c.2876G>T (p.Gly959Val)
c.2558G>T
c.1457G>T (p.Gly486Val)
c.812G>T (p.Gly271Val)
n.3558G>T
c.3377G>T (p.Gly1126Val)
c.3371G>T (p.Gly1124Val)
c.1775G>T (p.Gly592Val)
n.3584G>T
 gnomAD v4
1g.102946901C>GCA341171116COL11A1c.3224G>C (p.Gly1075Ala)
c.3107G>C (p.Gly1036Ala)
c.3260G>C (p.Gly1087Ala)
c.2876G>C (p.Gly959Ala)
c.2558G>C
c.1457G>C (p.Gly486Ala)
c.812G>C (p.Gly271Ala)
n.3558G>C
c.3377G>C (p.Gly1126Ala)
c.3371G>C (p.Gly1124Ala)
c.1775G>C (p.Gly592Ala)
n.3584G>C
1g.102946901C>TCA341171119COL11A1c.3224G>A (p.Gly1075Glu)
c.3107G>A (p.Gly1036Glu)
c.3260G>A (p.Gly1087Glu)
c.2876G>A (p.Gly959Glu)
c.2558G>A
c.1457G>A (p.Gly486Glu)
c.812G>A (p.Gly271Glu)
n.3558G>A
c.3377G>A (p.Gly1126Glu)
c.3371G>A (p.Gly1124Glu)
c.1775G>A (p.Gly592Glu)
n.3584G>A
 ClinVar
1g.102946902C>ACA341171125COL11A1c.3223G>T (p.Gly1075Trp)
c.3106G>T (p.Gly1036Trp)
c.3259G>T (p.Gly1087Trp)
c.2875G>T (p.Gly959Trp)
c.2557G>T
c.1456G>T (p.Gly486Trp)
c.811G>T (p.Gly271Trp)
n.3557G>T
c.3376G>T (p.Gly1126Trp)
c.3370G>T (p.Gly1124Trp)
c.1774G>T (p.Gly592Trp)
n.3583G>T
1g.102946902C>GCA341171127COL11A1c.3223G>C (p.Gly1075Arg)
c.3106G>C (p.Gly1036Arg)
c.3259G>C (p.Gly1087Arg)
c.2875G>C (p.Gly959Arg)
c.2557G>C
c.1456G>C (p.Gly486Arg)
c.811G>C (p.Gly271Arg)
n.3557G>C
c.3376G>C (p.Gly1126Arg)
c.3370G>C (p.Gly1124Arg)
c.1774G>C (p.Gly592Arg)
n.3583G>C
1g.102946902C>TCA341171131COL11A1c.3223G>A (p.Gly1075Arg)
c.3106G>A (p.Gly1036Arg)
c.3259G>A (p.Gly1087Arg)
c.2875G>A (p.Gly959Arg)
c.2557G>A
c.1456G>A (p.Gly486Arg)
c.811G>A (p.Gly271Arg)
n.3557G>A
c.3376G>A (p.Gly1126Arg)
c.3370G>A (p.Gly1124Arg)
c.1774G>A (p.Gly592Arg)
n.3583G>A
 gnomAD v4
1g.102946903T>ACA419205498COL11A1c.3222A>T (p.Pro1074=)
c.3105A>T (p.Pro1035=)
c.3258A>T (p.Pro1086=)
c.2874A>T (p.Pro958=)
c.2556A>T
c.1455A>T (p.Pro485=)
c.810A>T (p.Pro270=)
n.3556A>T
c.3375A>T (p.Pro1125=)
c.3369A>T (p.Pro1123=)
c.1773A>T (p.Pro591=)
n.3582A>T
1g.102946903T>CCA419205499COL11A1c.3222A>G (p.Pro1074=)
c.3105A>G (p.Pro1035=)
c.3258A>G (p.Pro1086=)
c.2874A>G (p.Pro958=)
c.2556A>G
c.1455A>G (p.Pro485=)
c.810A>G (p.Pro270=)
n.3556A>G
c.3375A>G (p.Pro1125=)
c.3369A>G (p.Pro1123=)
c.1773A>G (p.Pro591=)
n.3582A>G
 ClinVar gnomAD v4
1g.102946903T>GCA419205500COL11A1c.3222A>C (p.Pro1074=)
c.3105A>C (p.Pro1035=)
c.3258A>C (p.Pro1086=)
c.2874A>C (p.Pro958=)
c.2556A>C
c.1455A>C (p.Pro485=)
c.810A>C (p.Pro270=)
n.3556A>C
c.3375A>C (p.Pro1125=)
c.3369A>C (p.Pro1123=)
c.1773A>C (p.Pro591=)
n.3582A>C
1g.102946904G>ACA341171146COL11A1c.3221C>T (p.Pro1074Leu)
c.3104C>T (p.Pro1035Leu)
c.3257C>T (p.Pro1086Leu)
c.2873C>T (p.Pro958Leu)
c.2555C>T
c.1454C>T (p.Pro485Leu)
c.809C>T (p.Pro270Leu)
n.3555C>T
c.3374C>T (p.Pro1125Leu)
c.3368C>T (p.Pro1123Leu)
c.1772C>T (p.Pro591Leu)
n.3581C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.102946904G>CCA341171150COL11A1c.3221C>G (p.Pro1074Arg)
c.3104C>G (p.Pro1035Arg)
c.3257C>G (p.Pro1086Arg)
c.2873C>G (p.Pro958Arg)
c.2555C>G
c.1454C>G (p.Pro485Arg)
c.809C>G (p.Pro270Arg)
n.3555C>G
c.3374C>G (p.Pro1125Arg)
c.3368C>G (p.Pro1123Arg)
c.1772C>G (p.Pro591Arg)
n.3581C>G
1g.102946904G>TCA341171152COL11A1c.3221C>A (p.Pro1074Gln)
c.3104C>A (p.Pro1035Gln)
c.3257C>A (p.Pro1086Gln)
c.2873C>A (p.Pro958Gln)
c.2555C>A
c.1454C>A (p.Pro485Gln)
c.809C>A (p.Pro270Gln)
n.3555C>A
c.3374C>A (p.Pro1125Gln)
c.3368C>A (p.Pro1123Gln)
c.1772C>A (p.Pro591Gln)
n.3581C>A
1g.102946905delCA2646803652COL11A1c.3221del (p.Pro1074GlnfsTer?)
c.3104del (p.Pro1035GlnfsTer?)
c.3257del (p.Pro1086GlnfsTer?)
c.2873del (p.Pro958GlnfsTer?)
c.2555del
c.1454del (p.Pro485GlnfsTer?)
c.809del (p.Pro270GlnfsTer?)
n.3555del
c.3374del (p.Pro1125GlnfsTer?)
c.3368del (p.Pro1123GlnfsTer?)
c.1772del (p.Pro591GlnfsTer?)
n.3581del
 gnomAD v4
1g.102946905G>ACA341171157COL11A1c.3220C>T (p.Pro1074Ser)
c.3103C>T (p.Pro1035Ser)
c.3256C>T (p.Pro1086Ser)
c.2872C>T (p.Pro958Ser)
c.2554C>T
c.1453C>T (p.Pro485Ser)
c.808C>T (p.Pro270Ser)
n.3554C>T
c.3373C>T (p.Pro1125Ser)
c.3367C>T (p.Pro1123Ser)
c.1771C>T (p.Pro591Ser)
n.3580C>T
1g.102946905G>CCA341171165COL11A1c.3220C>G (p.Pro1074Ala)
c.3103C>G (p.Pro1035Ala)
c.3256C>G (p.Pro1086Ala)
c.2872C>G (p.Pro958Ala)
c.2554C>G
c.1453C>G (p.Pro485Ala)
c.808C>G (p.Pro270Ala)
n.3554C>G
c.3373C>G (p.Pro1125Ala)
c.3367C>G (p.Pro1123Ala)
c.1771C>G (p.Pro591Ala)
n.3580C>G
1g.102946905G>TCA341171168COL11A1c.3220C>A (p.Pro1074Thr)
c.3103C>A (p.Pro1035Thr)
c.3256C>A (p.Pro1086Thr)
c.2872C>A (p.Pro958Thr)
c.2554C>A
c.1453C>A (p.Pro485Thr)
c.808C>A (p.Pro270Thr)
n.3554C>A
c.3373C>A (p.Pro1125Thr)
c.3367C>A (p.Pro1123Thr)
c.1771C>A (p.Pro591Thr)
n.3580C>A
 COSMIC COSMIC
1g.102946906T>ACA341171173COL11A1c.3219A>T (p.Leu1073Phe)
c.3102A>T (p.Leu1034Phe)
c.3255A>T (p.Leu1085Phe)
c.2871A>T (p.Leu957Phe)
c.2553A>T
c.1452A>T (p.Leu484Phe)
c.807A>T (p.Leu269Phe)
n.3553A>T
c.3372A>T (p.Leu1124Phe)
c.3366A>T (p.Leu1122Phe)
c.1770A>T (p.Leu590Phe)
n.3579A>T
1g.102946906T>CCA27697920COL11A1c.3219A>G (p.Leu1073=)
c.3102A>G (p.Leu1034=)
c.3255A>G (p.Leu1085=)
c.2871A>G (p.Leu957=)
c.2553A>G
c.1452A>G (p.Leu484=)
c.807A>G (p.Leu269=)
n.3553A>G
c.3372A>G (p.Leu1124=)
c.3366A>G (p.Leu1122=)
c.1770A>G (p.Leu590=)
n.3579A>G
 ClinVar dbSNP gnomAD v4
1g.102946906T>GCA341171171COL11A1c.3219A>C (p.Leu1073Phe)
c.3102A>C (p.Leu1034Phe)
c.3255A>C (p.Leu1085Phe)
c.2871A>C (p.Leu957Phe)
c.2553A>C
c.1452A>C (p.Leu484Phe)
c.807A>C (p.Leu269Phe)
n.3553A>C
c.3372A>C (p.Leu1124Phe)
c.3366A>C (p.Leu1122Phe)
c.1770A>C (p.Leu590Phe)
n.3579A>C
1g.102946906T=CA1185258707COL11A1c.3219A= (p.Leu1073=)
c.3102A= (p.Leu1034=)
c.3255A= (p.Leu1085=)
c.2871A= (p.Leu957=)
c.2553A=
c.1452A= (p.Leu484=)
c.807A= (p.Leu269=)
n.3553A=
c.3372A= (p.Leu1124=)
c.3366A= (p.Leu1122=)
c.1770A= (p.Leu590=)
n.3579A=
1g.102946907A>CCA341171180COL11A1c.3218T>G (p.Leu1073Ter)
c.3101T>G (p.Leu1034Ter)
c.3254T>G (p.Leu1085Ter)
c.2870T>G (p.Leu957Ter)
c.2552T>G
c.1451T>G (p.Leu484Ter)
c.806T>G (p.Leu269Ter)
n.3552T>G
c.3371T>G (p.Leu1124Ter)
c.3365T>G (p.Leu1122Ter)
c.1769T>G (p.Leu590Ter)
n.3578T>G
1g.102946907A>GCA341171183COL11A1c.3218T>C (p.Leu1073Ser)
c.3101T>C (p.Leu1034Ser)
c.3254T>C (p.Leu1085Ser)
c.2870T>C (p.Leu957Ser)
c.2552T>C
c.1451T>C (p.Leu484Ser)
c.806T>C (p.Leu269Ser)
n.3552T>C
c.3371T>C (p.Leu1124Ser)
c.3365T>C (p.Leu1122Ser)
c.1769T>C (p.Leu590Ser)
n.3578T>C
1g.102946907A>TCA341171186COL11A1c.3218T>A (p.Leu1073Ter)
c.3101T>A (p.Leu1034Ter)
c.3254T>A (p.Leu1085Ter)
c.2870T>A (p.Leu957Ter)
c.2552T>A
c.1451T>A (p.Leu484Ter)
c.806T>A (p.Leu269Ter)
n.3552T>A
c.3371T>A (p.Leu1124Ter)
c.3365T>A (p.Leu1122Ter)
c.1769T>A (p.Leu590Ter)
n.3578T>A
1g.102946908A=CA1185258711COL11A1c.3217T= (p.Leu1073=)
c.3100T= (p.Leu1034=)
c.3253T= (p.Leu1085=)
c.2869T= (p.Leu957=)
c.2551T=
c.1450T= (p.Leu484=)
c.805T= (p.Leu269=)
n.3551T=
c.3370T= (p.Leu1124=)
c.3364T= (p.Leu1122=)
c.1768T= (p.Leu590=)
n.3577T=
1g.102946908A>CCA974094COL11A1c.3217T>G (p.Leu1073Val)
c.3100T>G (p.Leu1034Val)
c.3253T>G (p.Leu1085Val)
c.2869T>G (p.Leu957Val)
c.2551T>G
c.1450T>G (p.Leu484Val)
c.805T>G (p.Leu269Val)
n.3551T>G
c.3370T>G (p.Leu1124Val)
c.3364T>G (p.Leu1122Val)
c.1768T>G (p.Leu590Val)
n.3577T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.102946908A>GCA419205503COL11A1c.3217T>C (p.Leu1073=)
c.3100T>C (p.Leu1034=)
c.3253T>C (p.Leu1085=)
c.2869T>C (p.Leu957=)
c.2551T>C
c.1450T>C (p.Leu484=)
c.805T>C (p.Leu269=)
n.3551T>C
c.3370T>C (p.Leu1124=)
c.3364T>C (p.Leu1122=)
c.1768T>C (p.Leu590=)
n.3577T>C
1g.102946908A>TCA341171191COL11A1c.3217T>A (p.Leu1073Ile)
c.3100T>A (p.Leu1034Ile)
c.3253T>A (p.Leu1085Ile)
c.2869T>A (p.Leu957Ile)
c.2551T>A
c.1450T>A (p.Leu484Ile)
c.805T>A (p.Leu269Ile)
n.3551T>A
c.3370T>A (p.Leu1124Ile)
c.3364T>A (p.Leu1122Ile)
c.1768T>A (p.Leu590Ile)
n.3577T>A
1g.102946909A>CCA419205504COL11A1c.3216T>G (p.Gly1072=)
c.3099T>G (p.Gly1033=)
c.3252T>G (p.Gly1084=)
c.2868T>G (p.Gly956=)
c.2550T>G
c.1449T>G (p.Gly483=)
c.804T>G (p.Gly268=)
n.3550T>G
c.3369T>G (p.Gly1123=)
c.3363T>G (p.Gly1121=)
c.1767T>G (p.Gly589=)
n.3576T>G
1g.102946909A>GCA419205505COL11A1c.3216T>C (p.Gly1072=)
c.3099T>C (p.Gly1033=)
c.3252T>C (p.Gly1084=)
c.2868T>C (p.Gly956=)
c.2550T>C
c.1449T>C (p.Gly483=)
c.804T>C (p.Gly268=)
n.3550T>C
c.3369T>C (p.Gly1123=)
c.3363T>C (p.Gly1121=)
c.1767T>C (p.Gly589=)
n.3576T>C
 ClinVar gnomAD v4
1g.102946909A>TCA419205506COL11A1c.3216T>A (p.Gly1072=)
c.3099T>A (p.Gly1033=)
c.3252T>A (p.Gly1084=)
c.2868T>A (p.Gly956=)
c.2550T>A
c.1449T>A (p.Gly483=)
c.804T>A (p.Gly268=)
n.3550T>A
c.3369T>A (p.Gly1123=)
c.3363T>A (p.Gly1121=)
c.1767T>A (p.Gly589=)
n.3576T>A
1g.102946910C>ACA341171208COL11A1c.3215G>T (p.Gly1072Val)
c.3098G>T (p.Gly1033Val)
c.3251G>T (p.Gly1084Val)
c.2867G>T (p.Gly956Val)
c.2549G>T
c.1448G>T (p.Gly483Val)
c.803G>T (p.Gly268Val)
n.3549G>T
c.3368G>T (p.Gly1123Val)
c.3362G>T (p.Gly1121Val)
c.1766G>T (p.Gly589Val)
n.3575G>T
1g.102946910C>GCA341171205COL11A1c.3215G>C (p.Gly1072Ala)
c.3098G>C (p.Gly1033Ala)
c.3251G>C (p.Gly1084Ala)
c.2867G>C (p.Gly956Ala)
c.2549G>C
c.1448G>C (p.Gly483Ala)
c.803G>C (p.Gly268Ala)
n.3549G>C
c.3368G>C (p.Gly1123Ala)
c.3362G>C (p.Gly1121Ala)
c.1766G>C (p.Gly589Ala)
n.3575G>C
1g.102946910C>TCA341171195COL11A1c.3215G>A (p.Gly1072Asp)
c.3098G>A (p.Gly1033Asp)
c.3251G>A (p.Gly1084Asp)
c.2867G>A (p.Gly956Asp)
c.2549G>A
c.1448G>A (p.Gly483Asp)
c.803G>A (p.Gly268Asp)
n.3549G>A
c.3368G>A (p.Gly1123Asp)
c.3362G>A (p.Gly1121Asp)
c.1766G>A (p.Gly589Asp)
n.3575G>A
1g.102946911C>ACA341171212COL11A1c.3214G>T (p.Gly1072Cys)
c.3097G>T (p.Gly1033Cys)
c.3250G>T (p.Gly1084Cys)
c.2866G>T (p.Gly956Cys)
c.2548G>T
c.1447G>T (p.Gly483Cys)
c.802G>T (p.Gly268Cys)
n.3548G>T
c.3367G>T (p.Gly1123Cys)
c.3361G>T (p.Gly1121Cys)
c.1765G>T (p.Gly589Cys)
n.3574G>T
1g.102946911C>GCA341171216COL11A1c.3214G>C (p.Gly1072Arg)
c.3097G>C (p.Gly1033Arg)
c.3250G>C (p.Gly1084Arg)
c.2866G>C (p.Gly956Arg)
c.2548G>C
c.1447G>C (p.Gly483Arg)
c.802G>C (p.Gly268Arg)
n.3548G>C
c.3367G>C (p.Gly1123Arg)
c.3361G>C (p.Gly1121Arg)
c.1765G>C (p.Gly589Arg)
n.3574G>C
1g.102946911C>TCA341171222COL11A1c.3214G>A (p.Gly1072Ser)
c.3097G>A (p.Gly1033Ser)
c.3250G>A (p.Gly1084Ser)
c.2866G>A (p.Gly956Ser)
c.2548G>A
c.1447G>A (p.Gly483Ser)
c.802G>A (p.Gly268Ser)
n.3548G>A
c.3367G>A (p.Gly1123Ser)
c.3361G>A (p.Gly1121Ser)
c.1765G>A (p.Gly589Ser)
n.3574G>A
1g.102946912A>CCA341171230COL11A1c.3213T>G (p.Ile1071Met)
c.3096T>G (p.Ile1032Met)
c.3249T>G (p.Ile1083Met)
c.2865T>G (p.Ile955Met)
c.2547T>G
c.1446T>G (p.Ile482Met)
c.801T>G (p.Ile267Met)
n.3547T>G
c.3366T>G (p.Ile1122Met)
c.3360T>G (p.Ile1120Met)
c.1764T>G (p.Ile588Met)
n.3573T>G
 COSMIC COSMIC
1g.102946912A>GCA419205508COL11A1c.3213T>C (p.Ile1071=)
c.3096T>C (p.Ile1032=)
c.3249T>C (p.Ile1083=)
c.2865T>C (p.Ile955=)
c.2547T>C
c.1446T>C (p.Ile482=)
c.801T>C (p.Ile267=)
n.3547T>C
c.3366T>C (p.Ile1122=)
c.3360T>C (p.Ile1120=)
c.1764T>C (p.Ile588=)
n.3573T>C
1g.102946912A>TCA419205507COL11A1c.3213T>A (p.Ile1071=)
c.3096T>A (p.Ile1032=)
c.3249T>A (p.Ile1083=)
c.2865T>A (p.Ile955=)
c.2547T>A
c.1446T>A (p.Ile482=)
c.801T>A (p.Ile267=)
n.3547T>A
c.3366T>A (p.Ile1122=)
c.3360T>A (p.Ile1120=)
c.1764T>A (p.Ile588=)
n.3573T>A
1g.102946913A=CA1185258713COL11A1c.3212T= (p.Ile1071=)
c.3095T= (p.Ile1032=)
c.3248T= (p.Ile1083=)
c.2864T= (p.Ile955=)
c.2546T=
c.1445T= (p.Ile482=)
c.800T= (p.Ile267=)
n.3546T=
c.3365T= (p.Ile1122=)
c.3359T= (p.Ile1120=)
c.1763T= (p.Ile588=)
n.3572T=
1g.102946913A>CCA341171233COL11A1c.3212T>G (p.Ile1071Ser)
c.3095T>G (p.Ile1032Ser)
c.3248T>G (p.Ile1083Ser)
c.2864T>G (p.Ile955Ser)
c.2546T>G
c.1445T>G (p.Ile482Ser)
c.800T>G (p.Ile267Ser)
n.3546T>G
c.3365T>G (p.Ile1122Ser)
c.3359T>G (p.Ile1120Ser)
c.1763T>G (p.Ile588Ser)
n.3572T>G
1g.102946913A>GCA341171234COL11A1c.3212T>C (p.Ile1071Thr)
c.3095T>C (p.Ile1032Thr)
c.3248T>C (p.Ile1083Thr)
c.2864T>C (p.Ile955Thr)
c.2546T>C
c.1445T>C (p.Ile482Thr)
c.800T>C (p.Ile267Thr)
n.3546T>C
c.3365T>C (p.Ile1122Thr)
c.3359T>C (p.Ile1120Thr)
c.1763T>C (p.Ile588Thr)
n.3572T>C
 dbSNP gnomAD v2 gnomAD v4
1g.102946913A>TCA341171235COL11A1c.3212T>A (p.Ile1071Asn)
c.3095T>A (p.Ile1032Asn)
c.3248T>A (p.Ile1083Asn)
c.2864T>A (p.Ile955Asn)
c.2546T>A
c.1445T>A (p.Ile482Asn)
c.800T>A (p.Ile267Asn)
n.3546T>A
c.3365T>A (p.Ile1122Asn)
c.3359T>A (p.Ile1120Asn)
c.1763T>A (p.Ile588Asn)
n.3572T>A
1g.102946914T>ACA341171236COL11A1c.3211A>T (p.Ile1071Phe)
c.3094A>T (p.Ile1032Phe)
c.3247A>T (p.Ile1083Phe)
c.2863A>T (p.Ile955Phe)
c.2545A>T
c.1444A>T (p.Ile482Phe)
c.799A>T (p.Ile267Phe)
n.3545A>T
c.3364A>T (p.Ile1122Phe)
c.3358A>T (p.Ile1120Phe)
c.1762A>T (p.Ile588Phe)
n.3571A>T
1g.102946914T>CCA974095COL11A1c.3211A>G (p.Ile1071Val)
c.3094A>G (p.Ile1032Val)
c.3247A>G (p.Ile1083Val)
c.2863A>G (p.Ile955Val)
c.2545A>G
c.1444A>G (p.Ile482Val)
c.799A>G (p.Ile267Val)
n.3545A>G
c.3364A>G (p.Ile1122Val)
c.3358A>G (p.Ile1120Val)
c.1762A>G (p.Ile588Val)
n.3571A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102946914T>GCA341171238COL11A1c.3211A>C (p.Ile1071Leu)
c.3094A>C (p.Ile1032Leu)
c.3247A>C (p.Ile1083Leu)
c.2863A>C (p.Ile955Leu)
c.2545A>C
c.1444A>C (p.Ile482Leu)
c.799A>C (p.Ile267Leu)
n.3545A>C
c.3364A>C (p.Ile1122Leu)
c.3358A>C (p.Ile1120Leu)
c.1762A>C (p.Ile588Leu)
n.3571A>C
1g.102946914T=CA1143617165COL11A1c.3211A= (p.Ile1071=)
c.3094A= (p.Ile1032=)
c.3247A= (p.Ile1083=)
c.2863A= (p.Ile955=)
c.2545A=
c.1444A= (p.Ile482=)
c.799A= (p.Ile267=)
n.3545A=
c.3364A= (p.Ile1122=)
c.3358A= (p.Ile1120=)
c.1762A= (p.Ile588=)
n.3571A=
1g.102946915T>ACA419205509COL11A1c.3210A>T (p.Pro1070=)
c.3093A>T (p.Pro1031=)
c.3246A>T (p.Pro1082=)
c.2862A>T (p.Pro954=)
c.2544A>T
c.1443A>T (p.Pro481=)
c.798A>T (p.Pro266=)
n.3544A>T
c.3363A>T (p.Pro1121=)
c.3357A>T (p.Pro1119=)
c.1761A>T (p.Pro587=)
n.3570A>T
1g.102946915T>CCA419205510COL11A1c.3210A>G (p.Pro1070=)
c.3093A>G (p.Pro1031=)
c.3246A>G (p.Pro1082=)
c.2862A>G (p.Pro954=)
c.2544A>G
c.1443A>G (p.Pro481=)
c.798A>G (p.Pro266=)
n.3544A>G
c.3363A>G (p.Pro1121=)
c.3357A>G (p.Pro1119=)
c.1761A>G (p.Pro587=)
n.3570A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.102946915T>GCA419205511COL11A1c.3210A>C (p.Pro1070=)
c.3093A>C (p.Pro1031=)
c.3246A>C (p.Pro1082=)
c.2862A>C (p.Pro954=)
c.2544A>C
c.1443A>C (p.Pro481=)
c.798A>C (p.Pro266=)
n.3544A>C
c.3363A>C (p.Pro1121=)
c.3357A>C (p.Pro1119=)
c.1761A>C (p.Pro587=)
n.3570A>C
1g.102946915T=CA1185258717COL11A1c.3210A= (p.Pro1070=)
c.3093A= (p.Pro1031=)
c.3246A= (p.Pro1082=)
c.2862A= (p.Pro954=)
c.2544A=
c.1443A= (p.Pro481=)
c.798A= (p.Pro266=)
n.3544A=
c.3363A= (p.Pro1121=)
c.3357A= (p.Pro1119=)
c.1761A= (p.Pro587=)
n.3570A=
1g.102946916G>ACA341171242COL11A1c.3209C>T (p.Pro1070Leu)
c.3092C>T (p.Pro1031Leu)
c.3245C>T (p.Pro1082Leu)
c.2861C>T (p.Pro954Leu)
c.2543C>T
c.1442C>T (p.Pro481Leu)
c.797C>T (p.Pro266Leu)
n.3543C>T
c.3362C>T (p.Pro1121Leu)
c.3356C>T (p.Pro1119Leu)
c.1760C>T (p.Pro587Leu)
n.3569C>T
 gnomAD v4
1g.102946916G>CCA341171243COL11A1c.3209C>G (p.Pro1070Arg)
c.3092C>G (p.Pro1031Arg)
c.3245C>G (p.Pro1082Arg)
c.2861C>G (p.Pro954Arg)
c.2543C>G
c.1442C>G (p.Pro481Arg)
c.797C>G (p.Pro266Arg)
n.3543C>G
c.3362C>G (p.Pro1121Arg)
c.3356C>G (p.Pro1119Arg)
c.1760C>G (p.Pro587Arg)
n.3569C>G
1g.102946916G>TCA341171246COL11A1c.3209C>A (p.Pro1070Gln)
c.3092C>A (p.Pro1031Gln)
c.3245C>A (p.Pro1082Gln)
c.2861C>A (p.Pro954Gln)
c.2543C>A
c.1442C>A (p.Pro481Gln)
c.797C>A (p.Pro266Gln)
n.3543C>A
c.3362C>A (p.Pro1121Gln)
c.3356C>A (p.Pro1119Gln)
c.1760C>A (p.Pro587Gln)
n.3569C>A
1g.102946917G>ACA341171250COL11A1c.3208C>T (p.Pro1070Ser)
c.3091C>T (p.Pro1031Ser)
c.3244C>T (p.Pro1082Ser)
c.2860C>T (p.Pro954Ser)
c.2542C>T
c.1441C>T (p.Pro481Ser)
c.796C>T (p.Pro266Ser)
n.3542C>T
c.3361C>T (p.Pro1121Ser)
c.3355C>T (p.Pro1119Ser)
c.1759C>T (p.Pro587Ser)
n.3568C>T
1g.102946917G>CCA341171254COL11A1c.3208C>G (p.Pro1070Ala)
c.3091C>G (p.Pro1031Ala)
c.3244C>G (p.Pro1082Ala)
c.2860C>G (p.Pro954Ala)
c.2542C>G
c.1441C>G (p.Pro481Ala)
c.796C>G (p.Pro266Ala)
n.3542C>G
c.3361C>G (p.Pro1121Ala)
c.3355C>G (p.Pro1119Ala)
c.1759C>G (p.Pro587Ala)
n.3568C>G
1g.102946917G>TCA341171257COL11A1c.3208C>A (p.Pro1070Thr)
c.3091C>A (p.Pro1031Thr)
c.3244C>A (p.Pro1082Thr)
c.2860C>A (p.Pro954Thr)
c.2542C>A
c.1441C>A (p.Pro481Thr)
c.796C>A (p.Pro266Thr)
n.3542C>A
c.3361C>A (p.Pro1121Thr)
c.3355C>A (p.Pro1119Thr)
c.1759C>A (p.Pro587Thr)
n.3568C>A
1g.102946918G>ACA419205514COL11A1c.3207C>T (p.Gly1069=)
c.3090C>T (p.Gly1030=)
c.3243C>T (p.Gly1081=)
c.2859C>T (p.Gly953=)
c.2541C>T
c.1440C>T (p.Gly480=)
c.795C>T (p.Gly265=)
n.3541C>T
c.3360C>T (p.Gly1120=)
c.3354C>T (p.Gly1118=)
c.1758C>T (p.Gly586=)
n.3567C>T
1g.102946918G>CCA419205513COL11A1c.3207C>G (p.Gly1069=)
c.3090C>G (p.Gly1030=)
c.3243C>G (p.Gly1081=)
c.2859C>G (p.Gly953=)
c.2541C>G
c.1440C>G (p.Gly480=)
c.795C>G (p.Gly265=)
n.3541C>G
c.3360C>G (p.Gly1120=)
c.3354C>G (p.Gly1118=)
c.1758C>G (p.Gly586=)
n.3567C>G
1g.102946918G>TCA419205512COL11A1c.3207C>A (p.Gly1069=)
c.3090C>A (p.Gly1030=)
c.3243C>A (p.Gly1081=)
c.2859C>A (p.Gly953=)
c.2541C>A
c.1440C>A (p.Gly480=)
c.795C>A (p.Gly265=)
n.3541C>A
c.3360C>A (p.Gly1120=)
c.3354C>A (p.Gly1118=)
c.1758C>A (p.Gly586=)
n.3567C>A
1g.102946919C>ACA341171261COL11A1c.3206G>T (p.Gly1069Val)
c.3089G>T (p.Gly1030Val)
c.3242G>T (p.Gly1081Val)
c.2858G>T (p.Gly953Val)
c.2540G>T
c.1439G>T (p.Gly480Val)
c.794G>T (p.Gly265Val)
n.3540G>T
c.3359G>T (p.Gly1120Val)
c.3353G>T (p.Gly1118Val)
c.1757G>T (p.Gly586Val)
n.3566G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.102946919C=CA1185258719COL11A1c.3206G= (p.Gly1069=)
c.3089G= (p.Gly1030=)
c.3242G= (p.Gly1081=)
c.2858G= (p.Gly953=)
c.2540G=
c.1439G= (p.Gly480=)
c.794G= (p.Gly265=)
n.3540G=
c.3359G= (p.Gly1120=)
c.3353G= (p.Gly1118=)
c.1757G= (p.Gly586=)
n.3566G=
1g.102946919C>GCA341171263COL11A1c.3206G>C (p.Gly1069Ala)
c.3089G>C (p.Gly1030Ala)
c.3242G>C (p.Gly1081Ala)
c.2858G>C (p.Gly953Ala)
c.2540G>C
c.1439G>C (p.Gly480Ala)
c.794G>C (p.Gly265Ala)
n.3540G>C
c.3359G>C (p.Gly1120Ala)
c.3353G>C (p.Gly1118Ala)
c.1757G>C (p.Gly586Ala)
n.3566G>C
1g.102946919C>TCA341171266COL11A1c.3206G>A (p.Gly1069Asp)
c.3089G>A (p.Gly1030Asp)
c.3242G>A (p.Gly1081Asp)
c.2858G>A (p.Gly953Asp)
c.2540G>A
c.1439G>A (p.Gly480Asp)
c.794G>A (p.Gly265Asp)
n.3540G>A
c.3359G>A (p.Gly1120Asp)
c.3353G>A (p.Gly1118Asp)
c.1757G>A (p.Gly586Asp)
n.3566G>A
1g.102946920C>ACA341171271COL11A1c.3205G>T (p.Gly1069Cys)
c.3088G>T (p.Gly1030Cys)
c.3241G>T (p.Gly1081Cys)
c.2857G>T (p.Gly953Cys)
c.2539G>T
c.1438G>T (p.Gly480Cys)
c.793G>T (p.Gly265Cys)
n.3539G>T
c.3358G>T (p.Gly1120Cys)
c.3352G>T (p.Gly1118Cys)
c.1756G>T (p.Gly586Cys)
n.3565G>T
1g.102946920C>GCA341171275COL11A1c.3205G>C (p.Gly1069Arg)
c.3088G>C (p.Gly1030Arg)
c.3241G>C (p.Gly1081Arg)
c.2857G>C (p.Gly953Arg)
c.2539G>C
c.1438G>C (p.Gly480Arg)
c.793G>C (p.Gly265Arg)
n.3539G>C
c.3358G>C (p.Gly1120Arg)
c.3352G>C (p.Gly1118Arg)
c.1756G>C (p.Gly586Arg)
n.3565G>C
1g.102946920C>TCA341171281COL11A1c.3205G>A (p.Gly1069Ser)
c.3088G>A (p.Gly1030Ser)
c.3241G>A (p.Gly1081Ser)
c.2857G>A (p.Gly953Ser)
c.2539G>A
c.1438G>A (p.Gly480Ser)
c.793G>A (p.Gly265Ser)
n.3539G>A
c.3358G>A (p.Gly1120Ser)
c.3352G>A (p.Gly1118Ser)
c.1756G>A (p.Gly586Ser)
n.3565G>A
1g.102946921A=CA1185258723COL11A1c.3204T= (p.Ala1068=)
c.3087T= (p.Ala1029=)
c.3240T= (p.Ala1080=)
c.2856T= (p.Ala952=)
c.2538T=
c.1437T= (p.Ala479=)
c.792T= (p.Ala264=)
n.3538T=
c.3357T= (p.Ala1119=)
c.3351T= (p.Ala1117=)
c.1755T= (p.Ala585=)
n.3564T=
1g.102946921A>CCA419205516COL11A1c.3204T>G (p.Ala1068=)
c.3087T>G (p.Ala1029=)
c.3240T>G (p.Ala1080=)
c.2856T>G (p.Ala952=)
c.2538T>G
c.1437T>G (p.Ala479=)
c.792T>G (p.Ala264=)
n.3538T>G
c.3357T>G (p.Ala1119=)
c.3351T>G (p.Ala1117=)
c.1755T>G (p.Ala585=)
n.3564T>G
1g.102946921A>GCA419205517COL11A1c.3204T>C (p.Ala1068=)
c.3087T>C (p.Ala1029=)
c.3240T>C (p.Ala1080=)
c.2856T>C (p.Ala952=)
c.2538T>C
c.1437T>C (p.Ala479=)
c.792T>C (p.Ala264=)
n.3538T>C
c.3357T>C (p.Ala1119=)
c.3351T>C (p.Ala1117=)
c.1755T>C (p.Ala585=)
n.3564T>C
 dbSNP gnomAD v4
1g.102946921A>TCA419205518COL11A1c.3204T>A (p.Ala1068=)
c.3087T>A (p.Ala1029=)
c.3240T>A (p.Ala1080=)
c.2856T>A (p.Ala952=)
c.2538T>A
c.1437T>A (p.Ala479=)
c.792T>A (p.Ala264=)
n.3538T>A
c.3357T>A (p.Ala1119=)
c.3351T>A (p.Ala1117=)
c.1755T>A (p.Ala585=)
n.3564T>A
1g.102946922G>ACA341171295COL11A1c.3203C>T (p.Ala1068Val)
c.3086C>T (p.Ala1029Val)
c.3239C>T (p.Ala1080Val)
c.2855C>T (p.Ala952Val)
c.2537C>T
c.1436C>T (p.Ala479Val)
c.791C>T (p.Ala264Val)
n.3537C>T
c.3356C>T (p.Ala1119Val)
c.3350C>T (p.Ala1117Val)
c.1754C>T (p.Ala585Val)
n.3563C>T
 dbSNP gnomAD v3 gnomAD v4
1g.102946922G>CCA341171311COL11A1c.3203C>G (p.Ala1068Gly)
c.3086C>G (p.Ala1029Gly)
c.3239C>G (p.Ala1080Gly)
c.2855C>G (p.Ala952Gly)
c.2537C>G
c.1436C>G (p.Ala479Gly)
c.791C>G (p.Ala264Gly)
n.3537C>G
c.3356C>G (p.Ala1119Gly)
c.3350C>G (p.Ala1117Gly)
c.1754C>G (p.Ala585Gly)
n.3563C>G
 ClinVar
1g.102946922G=CA1185258726COL11A1c.3203C= (p.Ala1068=)
c.3086C= (p.Ala1029=)
c.3239C= (p.Ala1080=)
c.2855C= (p.Ala952=)
c.2537C=
c.1436C= (p.Ala479=)
c.791C= (p.Ala264=)
n.3537C=
c.3356C= (p.Ala1119=)
c.3350C= (p.Ala1117=)
c.1754C= (p.Ala585=)
n.3563C=
1g.102946922G>TCA341171302COL11A1c.3203C>A (p.Ala1068Asp)
c.3086C>A (p.Ala1029Asp)
c.3239C>A (p.Ala1080Asp)
c.2855C>A (p.Ala952Asp)
c.2537C>A
c.1436C>A (p.Ala479Asp)
c.791C>A (p.Ala264Asp)
n.3537C>A
c.3356C>A (p.Ala1119Asp)
c.3350C>A (p.Ala1117Asp)
c.1754C>A (p.Ala585Asp)
n.3563C>A
1g.102946923C>ACA341171315COL11A1c.3202G>T (p.Ala1068Ser)
c.3085G>T (p.Ala1029Ser)
c.3238G>T (p.Ala1080Ser)
c.2854G>T (p.Ala952Ser)
c.2536G>T
c.1435G>T (p.Ala479Ser)
c.790G>T (p.Ala264Ser)
n.3536G>T
c.3355G>T (p.Ala1119Ser)
c.3349G>T (p.Ala1117Ser)
c.1753G>T (p.Ala585Ser)
n.3562G>T
1g.102946923C>GCA341171318COL11A1c.3202G>C (p.Ala1068Pro)
c.3085G>C (p.Ala1029Pro)
c.3238G>C (p.Ala1080Pro)
c.2854G>C (p.Ala952Pro)
c.2536G>C
c.1435G>C (p.Ala479Pro)
c.790G>C (p.Ala264Pro)
n.3536G>C
c.3355G>C (p.Ala1119Pro)
c.3349G>C (p.Ala1117Pro)
c.1753G>C (p.Ala585Pro)
n.3562G>C
1g.102946923C>TCA341171321COL11A1c.3202G>A (p.Ala1068Thr)
c.3085G>A (p.Ala1029Thr)
c.3238G>A (p.Ala1080Thr)
c.2854G>A (p.Ala952Thr)
c.2536G>A
c.1435G>A (p.Ala479Thr)
c.790G>A (p.Ala264Thr)
n.3536G>A
c.3355G>A (p.Ala1119Thr)
c.3349G>A (p.Ala1117Thr)
c.1753G>A (p.Ala585Thr)
n.3562G>A
1g.102946924T>ACA419205524COL11A1c.3201A>T (p.Thr1067=)
c.3084A>T (p.Thr1028=)
c.3237A>T (p.Thr1079=)
c.2853A>T (p.Thr951=)
c.2535A>T
c.1434A>T (p.Thr478=)
c.789A>T (p.Thr263=)
n.3535A>T
c.3354A>T (p.Thr1118=)
c.3348A>T (p.Thr1116=)
c.1752A>T (p.Thr584=)
n.3561A>T
1g.102946924T>CCA419205525COL11A1c.3201A>G (p.Thr1067=)
c.3084A>G (p.Thr1028=)
c.3237A>G (p.Thr1079=)
c.2853A>G (p.Thr951=)
c.2535A>G
c.1434A>G (p.Thr478=)
c.789A>G (p.Thr263=)
n.3535A>G
c.3354A>G (p.Thr1118=)
c.3348A>G (p.Thr1116=)
c.1752A>G (p.Thr584=)
n.3561A>G
1g.102946924T>GCA419205526COL11A1c.3201A>C (p.Thr1067=)
c.3084A>C (p.Thr1028=)
c.3237A>C (p.Thr1079=)
c.2853A>C (p.Thr951=)
c.2535A>C
c.1434A>C (p.Thr478=)
c.789A>C (p.Thr263=)
n.3535A>C
c.3354A>C (p.Thr1118=)
c.3348A>C (p.Thr1116=)
c.1752A>C (p.Thr584=)
n.3561A>C
1g.102946925G>ACA341171326COL11A1c.3200C>T (p.Thr1067Ile)
c.3083C>T (p.Thr1028Ile)
c.3236C>T (p.Thr1079Ile)
c.2852C>T (p.Thr951Ile)
c.2534C>T
c.1433C>T (p.Thr478Ile)
c.788C>T (p.Thr263Ile)
n.3534C>T
c.3353C>T (p.Thr1118Ile)
c.3347C>T (p.Thr1116Ile)
c.1751C>T (p.Thr584Ile)
n.3560C>T
1g.102946925G>CCA341171329COL11A1c.3200C>G (p.Thr1067Arg)
c.3083C>G (p.Thr1028Arg)
c.3236C>G (p.Thr1079Arg)
c.2852C>G (p.Thr951Arg)
c.2534C>G
c.1433C>G (p.Thr478Arg)
c.788C>G (p.Thr263Arg)
n.3534C>G
c.3353C>G (p.Thr1118Arg)
c.3347C>G (p.Thr1116Arg)
c.1751C>G (p.Thr584Arg)
n.3560C>G
1g.102946925G>TCA341171332COL11A1c.3200C>A (p.Thr1067Lys)
c.3083C>A (p.Thr1028Lys)
c.3236C>A (p.Thr1079Lys)
c.2852C>A (p.Thr951Lys)
c.2534C>A
c.1433C>A (p.Thr478Lys)
c.788C>A (p.Thr263Lys)
n.3534C>A
c.3353C>A (p.Thr1118Lys)
c.3347C>A (p.Thr1116Lys)
c.1751C>A (p.Thr584Lys)
n.3560C>A
1g.102946926T>ACA341171338COL11A1c.3199A>T (p.Thr1067Ser)
c.3082A>T (p.Thr1028Ser)
c.3235A>T (p.Thr1079Ser)
c.2851A>T (p.Thr951Ser)
c.2533A>T
c.1432A>T (p.Thr478Ser)
c.787A>T (p.Thr263Ser)
n.3533A>T
c.3352A>T (p.Thr1118Ser)
c.3346A>T (p.Thr1116Ser)
c.1750A>T (p.Thr584Ser)
n.3559A>T
1g.102946926T>CCA341171342COL11A1c.3199A>G (p.Thr1067Ala)
c.3082A>G (p.Thr1028Ala)
c.3235A>G (p.Thr1079Ala)
c.2851A>G (p.Thr951Ala)
c.2533A>G
c.1432A>G (p.Thr478Ala)
c.787A>G (p.Thr263Ala)
n.3533A>G
c.3352A>G (p.Thr1118Ala)
c.3346A>G (p.Thr1116Ala)
c.1750A>G (p.Thr584Ala)
n.3559A>G
 dbSNP gnomAD v4
1g.102946926T>GCA341171345COL11A1c.3199A>C (p.Thr1067Pro)
c.3082A>C (p.Thr1028Pro)
c.3235A>C (p.Thr1079Pro)
c.2851A>C (p.Thr951Pro)
c.2533A>C
c.1432A>C (p.Thr478Pro)
c.787A>C (p.Thr263Pro)
n.3533A>C
c.3352A>C (p.Thr1118Pro)
c.3346A>C (p.Thr1116Pro)
c.1750A>C (p.Thr584Pro)
n.3559A>C
1g.102946926T=CA1185258728COL11A1c.3199A= (p.Thr1067=)
c.3082A= (p.Thr1028=)
c.3235A= (p.Thr1079=)
c.2851A= (p.Thr951=)
c.2533A=
c.1432A= (p.Thr478=)
c.787A= (p.Thr263=)
n.3533A=
c.3352A= (p.Thr1118=)
c.3346A= (p.Thr1116=)
c.1750A= (p.Thr584=)
n.3559A=
1g.102946927A=CA1185258730COL11A1c.3198T= (p.Gly1066=)
c.3081T= (p.Gly1027=)
c.3234T= (p.Gly1078=)
c.2850T= (p.Gly950=)
c.2532T=
c.1431T= (p.Gly477=)
c.786T= (p.Gly262=)
n.3532T=
c.3351T= (p.Gly1117=)
c.3345T= (p.Gly1115=)
c.1749T= (p.Gly583=)
n.3558T=
1g.102946927A>CCA419205532COL11A1c.3198T>G (p.Gly1066=)
c.3081T>G (p.Gly1027=)
c.3234T>G (p.Gly1078=)
c.2850T>G (p.Gly950=)
c.2532T>G
c.1431T>G (p.Gly477=)
c.786T>G (p.Gly262=)
n.3532T>G
c.3351T>G (p.Gly1117=)
c.3345T>G (p.Gly1115=)
c.1749T>G (p.Gly583=)
n.3558T>G
1g.102946927A>GCA27697928COL11A1c.3198T>C (p.Gly1066=)
c.3081T>C (p.Gly1027=)
c.3234T>C (p.Gly1078=)
c.2850T>C (p.Gly950=)
c.2532T>C
c.1431T>C (p.Gly477=)
c.786T>C (p.Gly262=)
n.3532T>C
c.3351T>C (p.Gly1117=)
c.3345T>C (p.Gly1115=)
c.1749T>C (p.Gly583=)
n.3558T>C
 dbSNP gnomAD v2 gnomAD v4
1g.102946927A>TCA419205533COL11A1c.3198T>A (p.Gly1066=)
c.3081T>A (p.Gly1027=)
c.3234T>A (p.Gly1078=)
c.2850T>A (p.Gly950=)
c.2532T>A
c.1431T>A (p.Gly477=)
c.786T>A (p.Gly262=)
n.3532T>A
c.3351T>A (p.Gly1117=)
c.3345T>A (p.Gly1115=)
c.1749T>A (p.Gly583=)
n.3558T>A
 dbSNP gnomAD v2 gnomAD v4
1g.102946928C>ACA341171348COL11A1c.3197G>T (p.Gly1066Val)
c.3080G>T (p.Gly1027Val)
c.3233G>T (p.Gly1078Val)
c.2849G>T (p.Gly950Val)
c.2531G>T
c.1430G>T (p.Gly477Val)
c.785G>T (p.Gly262Val)
n.3531G>T
c.3350G>T (p.Gly1117Val)
c.3344G>T (p.Gly1115Val)
c.1748G>T (p.Gly583Val)
n.3557G>T
1g.102946928C>GCA341171349COL11A1c.3197G>C (p.Gly1066Ala)
c.3080G>C (p.Gly1027Ala)
c.3233G>C (p.Gly1078Ala)
c.2849G>C (p.Gly950Ala)
c.2531G>C
c.1430G>C (p.Gly477Ala)
c.785G>C (p.Gly262Ala)
n.3531G>C
c.3350G>C (p.Gly1117Ala)
c.3344G>C (p.Gly1115Ala)
c.1748G>C (p.Gly583Ala)
n.3557G>C
 gnomAD v4
1g.102946928C>TCA341171350COL11A1c.3197G>A (p.Gly1066Asp)
c.3080G>A (p.Gly1027Asp)
c.3233G>A (p.Gly1078Asp)
c.2849G>A (p.Gly950Asp)
c.2531G>A
c.1430G>A (p.Gly477Asp)
c.785G>A (p.Gly262Asp)
n.3531G>A
c.3350G>A (p.Gly1117Asp)
c.3344G>A (p.Gly1115Asp)
c.1748G>A (p.Gly583Asp)
n.3557G>A
 gnomAD v4
1g.102946929C>ACA341171364COL11A1c.3196G>T (p.Gly1066Cys)
c.3079G>T (p.Gly1027Cys)
c.3232G>T (p.Gly1078Cys)
c.2848G>T (p.Gly950Cys)
c.2530G>T
c.1429G>T (p.Gly477Cys)
c.784G>T (p.Gly262Cys)
n.3530G>T
c.3349G>T (p.Gly1117Cys)
c.3343G>T (p.Gly1115Cys)
c.1747G>T (p.Gly583Cys)
n.3556G>T
1g.102946929C>GCA341171356COL11A1c.3196G>C (p.Gly1066Arg)
c.3079G>C (p.Gly1027Arg)
c.3232G>C (p.Gly1078Arg)
c.2848G>C (p.Gly950Arg)
c.2530G>C
c.1429G>C (p.Gly477Arg)
c.784G>C (p.Gly262Arg)
n.3530G>C
c.3349G>C (p.Gly1117Arg)
c.3343G>C (p.Gly1115Arg)
c.1747G>C (p.Gly583Arg)
n.3556G>C
1g.102946929C>TCA341171354COL11A1c.3196G>A (p.Gly1066Ser)
c.3079G>A (p.Gly1027Ser)
c.3232G>A (p.Gly1078Ser)
c.2848G>A (p.Gly950Ser)
c.2530G>A
c.1429G>A (p.Gly477Ser)
c.784G>A (p.Gly262Ser)
n.3530G>A
c.3349G>A (p.Gly1117Ser)
c.3343G>A (p.Gly1115Ser)
c.1747G>A (p.Gly583Ser)
n.3556G>A
 COSMIC COSMIC
1g.102946930T>ACA419205537COL11A1c.3195A>T (p.Ala1065=)
c.3078A>T (p.Ala1026=)
c.3231A>T (p.Ala1077=)
c.2847A>T (p.Ala949=)
c.2529A>T
c.1428A>T (p.Ala476=)
c.783A>T (p.Ala261=)
n.3529A>T
c.3348A>T (p.Ala1116=)
c.3342A>T (p.Ala1114=)
c.1746A>T (p.Ala582=)
n.3555A>T
 dbSNP
1g.102946930T>CCA974096COL11A1c.3195A>G (p.Ala1065=)
c.3078A>G (p.Ala1026=)
c.3231A>G (p.Ala1077=)
c.2847A>G (p.Ala949=)
c.2529A>G
c.1428A>G (p.Ala476=)
c.783A>G (p.Ala261=)
n.3529A>G
c.3348A>G (p.Ala1116=)
c.3342A>G (p.Ala1114=)
c.1746A>G (p.Ala582=)
n.3555A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102946930T>GCA419205538COL11A1c.3195A>C (p.Ala1065=)
c.3078A>C (p.Ala1026=)
c.3231A>C (p.Ala1077=)
c.2847A>C (p.Ala949=)
c.2529A>C
c.1428A>C (p.Ala476=)
c.783A>C (p.Ala261=)
n.3529A>C
c.3348A>C (p.Ala1116=)
c.3342A>C (p.Ala1114=)
c.1746A>C (p.Ala582=)
n.3555A>C
1g.102946930T=CA1185258735COL11A1c.3195A= (p.Ala1065=)
c.3078A= (p.Ala1026=)
c.3231A= (p.Ala1077=)
c.2847A= (p.Ala949=)
c.2529A=
c.1428A= (p.Ala476=)
c.783A= (p.Ala261=)
n.3529A=
c.3348A= (p.Ala1116=)
c.3342A= (p.Ala1114=)
c.1746A= (p.Ala582=)
n.3555A=
1g.102946931G>ACA341171369COL11A1c.3194C>T (p.Ala1065Val)
c.3077C>T (p.Ala1026Val)
c.3230C>T (p.Ala1077Val)
c.2846C>T (p.Ala949Val)
c.2528C>T
c.1427C>T (p.Ala476Val)
c.782C>T (p.Ala261Val)
n.3528C>T
c.3347C>T (p.Ala1116Val)
c.3341C>T (p.Ala1114Val)
c.1745C>T (p.Ala582Val)
n.3554C>T
1g.102946931G>CCA974097COL11A1c.3194C>G (p.Ala1065Gly)
c.3077C>G (p.Ala1026Gly)
c.3230C>G (p.Ala1077Gly)
c.2846C>G (p.Ala949Gly)
c.2528C>G
c.1427C>G (p.Ala476Gly)
c.782C>G (p.Ala261Gly)
n.3528C>G
c.3347C>G (p.Ala1116Gly)
c.3341C>G (p.Ala1114Gly)
c.1745C>G (p.Ala582Gly)
n.3554C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.102946931G=CA1142398095COL11A1c.3194C= (p.Ala1065=)
c.3077C= (p.Ala1026=)
c.3230C= (p.Ala1077=)
c.2846C= (p.Ala949=)
c.2528C=
c.1427C= (p.Ala476=)
c.782C= (p.Ala261=)
n.3528C=
c.3347C= (p.Ala1116=)
c.3341C= (p.Ala1114=)
c.1745C= (p.Ala582=)
n.3554C=
1g.102946931G>TCA341171374COL11A1c.3194C>A (p.Ala1065Glu)
c.3077C>A (p.Ala1026Glu)
c.3230C>A (p.Ala1077Glu)
c.2846C>A (p.Ala949Glu)
c.2528C>A
c.1427C>A (p.Ala476Glu)
c.782C>A (p.Ala261Glu)
n.3528C>A
c.3347C>A (p.Ala1116Glu)
c.3341C>A (p.Ala1114Glu)
c.1745C>A (p.Ala582Glu)
n.3554C>A
1g.102946932C>ACA341171376COL11A1c.3193G>T (p.Ala1065Ser)
c.3076G>T (p.Ala1026Ser)
c.3229G>T (p.Ala1077Ser)
c.2845G>T (p.Ala949Ser)
c.2527G>T
c.1426G>T (p.Ala476Ser)
c.781G>T (p.Ala261Ser)
n.3527G>T
c.3346G>T (p.Ala1116Ser)
c.3340G>T (p.Ala1114Ser)
c.1744G>T (p.Ala582Ser)
n.3553G>T
1g.102946932C=CA1185258743COL11A1c.3193G= (p.Ala1065=)
c.3076G= (p.Ala1026=)
c.3229G= (p.Ala1077=)
c.2845G= (p.Ala949=)
c.2527G=
c.1426G= (p.Ala476=)
c.781G= (p.Ala261=)
n.3527G=
c.3346G= (p.Ala1116=)
c.3340G= (p.Ala1114=)
c.1744G= (p.Ala582=)
n.3553G=
1g.102946932C>GCA341171381COL11A1c.3193G>C (p.Ala1065Pro)
c.3076G>C (p.Ala1026Pro)
c.3229G>C (p.Ala1077Pro)
c.2845G>C (p.Ala949Pro)
c.2527G>C
c.1426G>C (p.Ala476Pro)
c.781G>C (p.Ala261Pro)
n.3527G>C
c.3346G>C (p.Ala1116Pro)
c.3340G>C (p.Ala1114Pro)
c.1744G>C (p.Ala582Pro)
n.3553G>C
 dbSNP
1g.102946932C>TCA341171384COL11A1c.3193G>A (p.Ala1065Thr)
c.3076G>A (p.Ala1026Thr)
c.3229G>A (p.Ala1077Thr)
c.2845G>A (p.Ala949Thr)
c.2527G>A
c.1426G>A (p.Ala476Thr)
c.781G>A (p.Ala261Thr)
n.3527G>A
c.3346G>A (p.Ala1116Thr)
c.3340G>A (p.Ala1114Thr)
c.1744G>A (p.Ala582Thr)
n.3553G>A
 COSMIC COSMIC
1g.102946933T>ACA419205548COL11A1c.3192A>T (p.Ser1064=)
c.3075A>T (p.Ser1025=)
c.3228A>T (p.Ser1076=)
c.2844A>T (p.Ser948=)
c.2526A>T
c.1425A>T (p.Ser475=)
c.780A>T (p.Ser260=)
n.3526A>T
c.3345A>T (p.Ser1115=)
c.3339A>T (p.Ser1113=)
c.1743A>T (p.Ser581=)
n.3552A>T
 gnomAD v4 COSMIC COSMIC
1g.102946933T>CCA419205547COL11A1c.3192A>G (p.Ser1064=)
c.3075A>G (p.Ser1025=)
c.3228A>G (p.Ser1076=)
c.2844A>G (p.Ser948=)
c.2526A>G
c.1425A>G (p.Ser475=)
c.780A>G (p.Ser260=)
n.3526A>G
c.3345A>G (p.Ser1115=)
c.3339A>G (p.Ser1113=)
c.1743A>G (p.Ser581=)
n.3552A>G
1g.102946933T>GCA419205546COL11A1c.3192A>C (p.Ser1064=)
c.3075A>C (p.Ser1025=)
c.3228A>C (p.Ser1076=)
c.2844A>C (p.Ser948=)
c.2526A>C
c.1425A>C (p.Ser475=)
c.780A>C (p.Ser260=)
n.3526A>C
c.3345A>C (p.Ser1115=)
c.3339A>C (p.Ser1113=)
c.1743A>C (p.Ser581=)
n.3552A>C
 gnomAD v4
1g.102946934G>ACA341171388COL11A1c.3191C>T (p.Ser1064Leu)
c.3074C>T (p.Ser1025Leu)
c.3227C>T (p.Ser1076Leu)
c.2843C>T (p.Ser948Leu)
c.2525C>T
c.1424C>T (p.Ser475Leu)
c.779C>T (p.Ser260Leu)
n.3525C>T
c.3344C>T (p.Ser1115Leu)
c.3338C>T (p.Ser1113Leu)
c.1742C>T (p.Ser581Leu)
n.3551C>T
1g.102946934G>CCA341171391COL11A1c.3191C>G (p.Ser1064Ter)
c.3074C>G (p.Ser1025Ter)
c.3227C>G (p.Ser1076Ter)
c.2843C>G (p.Ser948Ter)
c.2525C>G
c.1424C>G (p.Ser475Ter)
c.779C>G (p.Ser260Ter)
n.3525C>G
c.3344C>G (p.Ser1115Ter)
c.3338C>G (p.Ser1113Ter)
c.1742C>G (p.Ser581Ter)
n.3551C>G
1g.102946934G>TCA341171392COL11A1c.3191C>A (p.Ser1064Ter)
c.3074C>A (p.Ser1025Ter)
c.3227C>A (p.Ser1076Ter)
c.2843C>A (p.Ser948Ter)
c.2525C>A
c.1424C>A (p.Ser475Ter)
c.779C>A (p.Ser260Ter)
n.3525C>A
c.3344C>A (p.Ser1115Ter)
c.3338C>A (p.Ser1113Ter)
c.1742C>A (p.Ser581Ter)
n.3551C>A
 gnomAD v4
1g.102946935A>CCA341171396COL11A1c.3190T>G (p.Ser1064Ala)
c.3073T>G (p.Ser1025Ala)
c.3226T>G (p.Ser1076Ala)
c.2842T>G (p.Ser948Ala)
c.2524T>G
c.1423T>G (p.Ser475Ala)
c.778T>G (p.Ser260Ala)
n.3524T>G
c.3343T>G (p.Ser1115Ala)
c.3337T>G (p.Ser1113Ala)
c.1741T>G (p.Ser581Ala)
n.3550T>G
1g.102946935A>GCA341171399COL11A1c.3190T>C (p.Ser1064Pro)
c.3073T>C (p.Ser1025Pro)
c.3226T>C (p.Ser1076Pro)
c.2842T>C (p.Ser948Pro)
c.2524T>C
c.1423T>C (p.Ser475Pro)
c.778T>C (p.Ser260Pro)
n.3524T>C
c.3343T>C (p.Ser1115Pro)
c.3337T>C (p.Ser1113Pro)
c.1741T>C (p.Ser581Pro)
n.3550T>C
1g.102946935A>TCA341171401COL11A1c.3190T>A (p.Ser1064Thr)
c.3073T>A (p.Ser1025Thr)
c.3226T>A (p.Ser1076Thr)
c.2842T>A (p.Ser948Thr)
c.2524T>A
c.1423T>A (p.Ser475Thr)
c.778T>A (p.Ser260Thr)
n.3524T>A
c.3343T>A (p.Ser1115Thr)
c.3337T>A (p.Ser1113Thr)
c.1741T>A (p.Ser581Thr)
n.3550T>A
1g.102946936C>ACA974099COL11A1c.3189G>T (p.Gly1063=)
c.3072G>T (p.Gly1024=)
c.3225G>T (p.Gly1075=)
c.2841G>T (p.Gly947=)
c.2523G>T
c.1422G>T (p.Gly474=)
c.777G>T (p.Gly259=)
n.3523G>T
c.3342G>T (p.Gly1114=)
c.3336G>T (p.Gly1112=)
c.1740G>T (p.Gly580=)
n.3549G>T
 dbSNP ExAC gnomAD v2
1g.102946936C=CA1140967250COL11A1c.3189G= (p.Gly1063=)
c.3072G= (p.Gly1024=)
c.3225G= (p.Gly1075=)
c.2841G= (p.Gly947=)
c.2523G=
c.1422G= (p.Gly474=)
c.777G= (p.Gly259=)
n.3523G=
c.3342G= (p.Gly1114=)
c.3336G= (p.Gly1112=)
c.1740G= (p.Gly580=)
n.3549G=
1g.102946936C>GCA419205554COL11A1c.3189G>C (p.Gly1063=)
c.3072G>C (p.Gly1024=)
c.3225G>C (p.Gly1075=)
c.2841G>C (p.Gly947=)
c.2523G>C
c.1422G>C (p.Gly474=)
c.777G>C (p.Gly259=)
n.3523G>C
c.3342G>C (p.Gly1114=)
c.3336G>C (p.Gly1112=)
c.1740G>C (p.Gly580=)
n.3549G>C
1g.102946936C>TCA974098COL11A1c.3189G>A (p.Gly1063=)
c.3072G>A (p.Gly1024=)
c.3225G>A (p.Gly1075=)
c.2841G>A (p.Gly947=)
c.2523G>A
c.1422G>A (p.Gly474=)
c.777G>A (p.Gly259=)
n.3523G>A
c.3342G>A (p.Gly1114=)
c.3336G>A (p.Gly1112=)
c.1740G>A (p.Gly580=)
n.3549G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102946937C>ACA341171405COL11A1c.3188G>T (p.Gly1063Val)
c.3071G>T (p.Gly1024Val)
c.3224G>T (p.Gly1075Val)
c.2840G>T (p.Gly947Val)
c.2522G>T
c.1421G>T (p.Gly474Val)
c.776G>T (p.Gly259Val)
n.3522G>T
c.3341G>T (p.Gly1114Val)
c.3335G>T (p.Gly1112Val)
c.1739G>T (p.Gly580Val)
n.3548G>T
 COSMIC COSMIC
1g.102946937C>GCA341171408COL11A1c.3188G>C (p.Gly1063Ala)
c.3071G>C (p.Gly1024Ala)
c.3224G>C (p.Gly1075Ala)
c.2840G>C (p.Gly947Ala)
c.2522G>C
c.1421G>C (p.Gly474Ala)
c.776G>C (p.Gly259Ala)
n.3522G>C
c.3341G>C (p.Gly1114Ala)
c.3335G>C (p.Gly1112Ala)
c.1739G>C (p.Gly580Ala)
n.3548G>C
1g.102946937C>TCA341171407COL11A1c.3188G>A (p.Gly1063Glu)
c.3071G>A (p.Gly1024Glu)
c.3224G>A (p.Gly1075Glu)
c.2840G>A (p.Gly947Glu)
c.2522G>A
c.1421G>A (p.Gly474Glu)
c.776G>A (p.Gly259Glu)
n.3522G>A
c.3341G>A (p.Gly1114Glu)
c.3335G>A (p.Gly1112Glu)
c.1739G>A (p.Gly580Glu)
n.3548G>A
1g.102946938C>ACA341171411COL11A1c.3187G>T (p.Gly1063Trp)
c.3070G>T (p.Gly1024Trp)
c.3223G>T (p.Gly1075Trp)
c.2839G>T (p.Gly947Trp)
c.2521G>T
c.1420G>T (p.Gly474Trp)
c.775G>T (p.Gly259Trp)
n.3521G>T
c.3340G>T (p.Gly1114Trp)
c.3334G>T (p.Gly1112Trp)
c.1738G>T (p.Gly580Trp)
n.3547G>T
 dbSNP gnomAD v3 gnomAD v4
1g.102946938C=CA1185258757COL11A1c.3187G= (p.Gly1063=)
c.3070G= (p.Gly1024=)
c.3223G= (p.Gly1075=)
c.2839G= (p.Gly947=)
c.2521G=
c.1420G= (p.Gly474=)
c.775G= (p.Gly259=)
n.3521G=
c.3340G= (p.Gly1114=)
c.3334G= (p.Gly1112=)
c.1738G= (p.Gly580=)
n.3547G=
1g.102946938C>GCA341171413COL11A1c.3187G>C (p.Gly1063Arg)
c.3070G>C (p.Gly1024Arg)
c.3223G>C (p.Gly1075Arg)
c.2839G>C (p.Gly947Arg)
c.2521G>C
c.1420G>C (p.Gly474Arg)
c.775G>C (p.Gly259Arg)
n.3521G>C
c.3340G>C (p.Gly1114Arg)
c.3334G>C (p.Gly1112Arg)
c.1738G>C (p.Gly580Arg)
n.3547G>C
 COSMIC COSMIC
1g.102946938C>TCA341171412COL11A1c.3187G>A (p.Gly1063Arg)
c.3070G>A (p.Gly1024Arg)
c.3223G>A (p.Gly1075Arg)
c.2839G>A (p.Gly947Arg)
c.2521G>A
c.1420G>A (p.Gly474Arg)
c.775G>A (p.Gly259Arg)
n.3521G>A
c.3340G>A (p.Gly1114Arg)
c.3334G>A (p.Gly1112Arg)
c.1738G>A (p.Gly580Arg)
n.3547G>A
 dbSNP
1g.102946939A=CA1185258760COL11A1c.3186T= (p.Arg1062=)
c.3069T= (p.Arg1023=)
c.3222T= (p.Arg1074=)
c.2838T= (p.Arg946=)
c.2520T=
c.1419T= (p.Arg473=)
c.774T= (p.Arg258=)
n.3520T=
c.3339T= (p.Arg1113=)
c.3333T= (p.Arg1111=)
c.1737T= (p.Arg579=)
n.3546T=
1g.102946939A>CCA419205562COL11A1c.3186T>G (p.Arg1062=)
c.3069T>G (p.Arg1023=)
c.3222T>G (p.Arg1074=)
c.2838T>G (p.Arg946=)
c.2520T>G
c.1419T>G (p.Arg473=)
c.774T>G (p.Arg258=)
n.3520T>G
c.3339T>G (p.Arg1113=)
c.3333T>G (p.Arg1111=)
c.1737T>G (p.Arg579=)
n.3546T>G
1g.102946939A>GCA419205565COL11A1c.3186T>C (p.Arg1062=)
c.3069T>C (p.Arg1023=)
c.3222T>C (p.Arg1074=)
c.2838T>C (p.Arg946=)
c.2520T>C
c.1419T>C (p.Arg473=)
c.774T>C (p.Arg258=)
n.3520T>C
c.3339T>C (p.Arg1113=)
c.3333T>C (p.Arg1111=)
c.1737T>C (p.Arg579=)
n.3546T>C
 dbSNP gnomAD v4
1g.102946939A>TCA419205564COL11A1c.3186T>A (p.Arg1062=)
c.3069T>A (p.Arg1023=)
c.3222T>A (p.Arg1074=)
c.2838T>A (p.Arg946=)
c.2520T>A
c.1419T>A (p.Arg473=)
c.774T>A (p.Arg258=)
n.3520T>A
c.3339T>A (p.Arg1113=)
c.3333T>A (p.Arg1111=)
c.1737T>A (p.Arg579=)
n.3546T>A
1g.102946940C>ACA341171414COL11A1c.3185G>T (p.Arg1062Leu)
c.3068G>T (p.Arg1023Leu)
c.3221G>T (p.Arg1074Leu)
c.2837G>T (p.Arg946Leu)
c.2519G>T
c.1418G>T (p.Arg473Leu)
c.773G>T (p.Arg258Leu)
n.3519G>T
c.3338G>T (p.Arg1113Leu)
c.3332G>T (p.Arg1111Leu)
c.1736G>T (p.Arg579Leu)
n.3545G>T
 ClinVar gnomAD v4
1g.102946940C=CA1185258762COL11A1c.3185G= (p.Arg1062=)
c.3068G= (p.Arg1023=)
c.3221G= (p.Arg1074=)
c.2837G= (p.Arg946=)
c.2519G=
c.1418G= (p.Arg473=)
c.773G= (p.Arg258=)
n.3519G=
c.3338G= (p.Arg1113=)
c.3332G= (p.Arg1111=)
c.1736G= (p.Arg579=)
n.3545G=
1g.102946940C>GCA341171416COL11A1c.3185G>C (p.Arg1062Pro)
c.3068G>C (p.Arg1023Pro)
c.3221G>C (p.Arg1074Pro)
c.2837G>C (p.Arg946Pro)
c.2519G>C
c.1418G>C (p.Arg473Pro)
c.773G>C (p.Arg258Pro)
n.3519G>C
c.3338G>C (p.Arg1113Pro)
c.3332G>C (p.Arg1111Pro)
c.1736G>C (p.Arg579Pro)
n.3545G>C
1g.102946940C>TCA341171417COL11A1c.3185G>A (p.Arg1062His)
c.3068G>A (p.Arg1023His)
c.3221G>A (p.Arg1074His)
c.2837G>A (p.Arg946His)
c.2519G>A
c.1418G>A (p.Arg473His)
c.773G>A (p.Arg258His)
n.3519G>A
c.3338G>A (p.Arg1113His)
c.3332G>A (p.Arg1111His)
c.1736G>A (p.Arg579His)
n.3545G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.102946941G>ACA341171420COL11A1c.3184C>T (p.Arg1062Cys)
c.3067C>T (p.Arg1023Cys)
c.3220C>T (p.Arg1074Cys)
c.2836C>T (p.Arg946Cys)
c.2518C>T
c.1417C>T (p.Arg473Cys)
c.772C>T (p.Arg258Cys)
n.3518C>T
c.3337C>T (p.Arg1113Cys)
c.3331C>T (p.Arg1111Cys)
c.1735C>T (p.Arg579Cys)
n.3544C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.102946941G>CCA341171422COL11A1c.3184C>G (p.Arg1062Gly)
c.3067C>G (p.Arg1023Gly)
c.3220C>G (p.Arg1074Gly)
c.2836C>G (p.Arg946Gly)
c.2518C>G
c.1417C>G (p.Arg473Gly)
c.772C>G (p.Arg258Gly)
n.3518C>G
c.3337C>G (p.Arg1113Gly)
c.3331C>G (p.Arg1111Gly)
c.1735C>G (p.Arg579Gly)
n.3544C>G
 gnomAD v4
1g.102946941G=CA1185258769COL11A1c.3184C= (p.Arg1062=)
c.3067C= (p.Arg1023=)
c.3220C= (p.Arg1074=)
c.2836C= (p.Arg946=)
c.2518C=
c.1417C= (p.Arg473=)
c.772C= (p.Arg258=)
n.3518C=
c.3337C= (p.Arg1113=)
c.3331C= (p.Arg1111=)
c.1735C= (p.Arg579=)
n.3544C=
1g.102946941G>TCA341171424COL11A1c.3184C>A (p.Arg1062Ser)
c.3067C>A (p.Arg1023Ser)
c.3220C>A (p.Arg1074Ser)
c.2836C>A (p.Arg946Ser)
c.2518C>A
c.1417C>A (p.Arg473Ser)
c.772C>A (p.Arg258Ser)
n.3518C>A
c.3337C>A (p.Arg1113Ser)
c.3331C>A (p.Arg1111Ser)
c.1735C>A (p.Arg579Ser)
n.3544C>A
 gnomAD v4
1g.102946942T>ACA341171430COL11A1c.3183A>T (p.Glu1061Asp)
c.3066A>T (p.Glu1022Asp)
c.3219A>T (p.Glu1073Asp)
c.2835A>T (p.Glu945Asp)
c.2517A>T
c.1416A>T (p.Glu472Asp)
c.771A>T (p.Glu257Asp)
n.3517A>T
c.3336A>T (p.Glu1112Asp)
c.3330A>T (p.Glu1110Asp)
c.1734A>T (p.Glu578Asp)
n.3543A>T
1g.102946942T>CCA419205572COL11A1c.3183A>G (p.Glu1061=)
c.3066A>G (p.Glu1022=)
c.3219A>G (p.Glu1073=)
c.2835A>G (p.Glu945=)
c.2517A>G
c.1416A>G (p.Glu472=)
c.771A>G (p.Glu257=)
n.3517A>G
c.3336A>G (p.Glu1112=)
c.3330A>G (p.Glu1110=)
c.1734A>G (p.Glu578=)
n.3543A>G
1g.102946942T>GCA341171428COL11A1c.3183A>C (p.Glu1061Asp)
c.3066A>C (p.Glu1022Asp)
c.3219A>C (p.Glu1073Asp)
c.2835A>C (p.Glu945Asp)
c.2517A>C
c.1416A>C (p.Glu472Asp)
c.771A>C (p.Glu257Asp)
n.3517A>C
c.3336A>C (p.Glu1112Asp)
c.3330A>C (p.Glu1110Asp)
c.1734A>C (p.Glu578Asp)
n.3543A>C
1g.102946943T>ACA341171431COL11A1c.3182A>T (p.Glu1061Val)
c.3065A>T (p.Glu1022Val)
c.3218A>T (p.Glu1073Val)
c.2834A>T (p.Glu945Val)
c.2516A>T
c.1415A>T (p.Glu472Val)
c.770A>T (p.Glu257Val)
n.3516A>T
c.3335A>T (p.Glu1112Val)
c.3329A>T (p.Glu1110Val)
c.1733A>T (p.Glu578Val)
n.3542A>T
1g.102946943T>CCA341171432COL11A1c.3182A>G (p.Glu1061Gly)
c.3065A>G (p.Glu1022Gly)
c.3218A>G (p.Glu1073Gly)
c.2834A>G (p.Glu945Gly)
c.2516A>G
c.1415A>G (p.Glu472Gly)
c.770A>G (p.Glu257Gly)
n.3516A>G
c.3335A>G (p.Glu1112Gly)
c.3329A>G (p.Glu1110Gly)
c.1733A>G (p.Glu578Gly)
n.3542A>G
1g.102946943T>GCA341171433COL11A1c.3182A>C (p.Glu1061Ala)
c.3065A>C (p.Glu1022Ala)
c.3218A>C (p.Glu1073Ala)
c.2834A>C (p.Glu945Ala)
c.2516A>C
c.1415A>C (p.Glu472Ala)
c.770A>C (p.Glu257Ala)
n.3516A>C
c.3335A>C (p.Glu1112Ala)
c.3329A>C (p.Glu1110Ala)
c.1733A>C (p.Glu578Ala)
n.3542A>C
1g.102946943_102946946delinsTCTCCA1185258772COL11A1c.3179_3182delinsGAGA (p.Gly1060=)
c.3062_3065delinsGAGA (p.Gly1021=)
c.3215_3218delinsGAGA (p.Gly1072=)
c.2831_2834delinsGAGA (p.Gly944=)
c.2513_2516delinsGAGA
c.1412_1415delinsGAGA (p.Gly471=)
c.767_770delinsGAGA (p.Gly256=)
n.3513_3516delinsGAGA
c.3332_3335delinsGAGA (p.Gly1111=)
c.3326_3329delinsGAGA (p.Gly1109=)
c.1730_1733delinsGAGA (p.Gly577=)
n.3539_3542delinsGAGA
1g.102946944C>ACA341171435COL11A1c.3181G>T (p.Glu1061Ter)
c.3064G>T (p.Glu1022Ter)
c.3217G>T (p.Glu1073Ter)
c.2833G>T (p.Glu945Ter)
c.2515G>T
c.1414G>T (p.Glu472Ter)
c.769G>T (p.Glu257Ter)
n.3515G>T
c.3334G>T (p.Glu1112Ter)
c.3328G>T (p.Glu1110Ter)
c.1732G>T (p.Glu578Ter)
n.3541G>T
1g.102946944C>GCA341171437COL11A1c.3181G>C (p.Glu1061Gln)
c.3064G>C (p.Glu1022Gln)
c.3217G>C (p.Glu1073Gln)
c.2833G>C (p.Glu945Gln)
c.2515G>C
c.1414G>C (p.Glu472Gln)
c.769G>C (p.Glu257Gln)
n.3515G>C
c.3334G>C (p.Glu1112Gln)
c.3328G>C (p.Glu1110Gln)
c.1732G>C (p.Glu578Gln)
n.3541G>C
1g.102946944C>TCA341171438COL11A1c.3181G>A (p.Glu1061Lys)
c.3064G>A (p.Glu1022Lys)
c.3217G>A (p.Glu1073Lys)
c.2833G>A (p.Glu945Lys)
c.2515G>A
c.1414G>A (p.Glu472Lys)
c.769G>A (p.Glu257Lys)
n.3515G>A
c.3334G>A (p.Glu1112Lys)
c.3328G>A (p.Glu1110Lys)
c.1732G>A (p.Glu578Lys)
n.3541G>A
1g.102946946_102946948delCA884748952COL11A1c.3179_3181del (p.Gly1060del)
c.3062_3064del (p.Gly1021del)
c.3215_3217del (p.Gly1072del)
c.2831_2833del (p.Gly944del)
c.2513_2515del
c.1412_1414del (p.Gly471del)
c.767_769del (p.Gly256del)
n.3513_3515del
c.3332_3334del (p.Gly1111del)
c.3326_3328del (p.Gly1109del)
c.1730_1732del (p.Gly577del)
n.3539_3541del
 ClinVar dbSNP gnomAD v4
1g.102946945T>ACA419205579COL11A1c.3180A>T (p.Gly1060=)
c.3063A>T (p.Gly1021=)
c.3216A>T (p.Gly1072=)
c.2832A>T (p.Gly944=)
c.2514A>T
c.1413A>T (p.Gly471=)
c.768A>T (p.Gly256=)
n.3514A>T
c.3333A>T (p.Gly1111=)
c.3327A>T (p.Gly1109=)
c.1731A>T (p.Gly577=)
n.3540A>T
1g.102946945T>CCA419205580COL11A1c.3180A>G (p.Gly1060=)
c.3063A>G (p.Gly1021=)
c.3216A>G (p.Gly1072=)
c.2832A>G (p.Gly944=)
c.2514A>G
c.1413A>G (p.Gly471=)
c.768A>G (p.Gly256=)
n.3514A>G
c.3333A>G (p.Gly1111=)
c.3327A>G (p.Gly1109=)
c.1731A>G (p.Gly577=)
n.3540A>G
 gnomAD v4
1g.102946945T>GCA419205581COL11A1c.3180A>C (p.Gly1060=)
c.3063A>C (p.Gly1021=)
c.3216A>C (p.Gly1072=)
c.2832A>C (p.Gly944=)
c.2514A>C
c.1413A>C (p.Gly471=)
c.768A>C (p.Gly256=)
n.3514A>C
c.3333A>C (p.Gly1111=)
c.3327A>C (p.Gly1109=)
c.1731A>C (p.Gly577=)
n.3540A>C
1g.102946946C>ACA341171442COL11A1c.3179G>T (p.Gly1060Val)
c.3062G>T (p.Gly1021Val)
c.3215G>T (p.Gly1072Val)
c.2831G>T (p.Gly944Val)
c.2513G>T
c.1412G>T (p.Gly471Val)
c.767G>T (p.Gly256Val)
n.3513G>T
c.3332G>T (p.Gly1111Val)
c.3326G>T (p.Gly1109Val)
c.1730G>T (p.Gly577Val)
n.3539G>T
1g.102946946C>GCA341171439COL11A1c.3179G>C (p.Gly1060Ala)
c.3062G>C (p.Gly1021Ala)
c.3215G>C (p.Gly1072Ala)
c.2831G>C (p.Gly944Ala)
c.2513G>C
c.1412G>C (p.Gly471Ala)
c.767G>C (p.Gly256Ala)
n.3513G>C
c.3332G>C (p.Gly1111Ala)
c.3326G>C (p.Gly1109Ala)
c.1730G>C (p.Gly577Ala)
n.3539G>C
1g.102946946C>TCA341171440COL11A1c.3179G>A (p.Gly1060Glu)
c.3062G>A (p.Gly1021Glu)
c.3215G>A (p.Gly1072Glu)
c.2831G>A (p.Gly944Glu)
c.2513G>A
c.1412G>A (p.Gly471Glu)
c.767G>A (p.Gly256Glu)
n.3513G>A
c.3332G>A (p.Gly1111Glu)
c.3326G>A (p.Gly1109Glu)
c.1730G>A (p.Gly577Glu)
n.3539G>A
1g.102946947C>ACA341171445COL11A1c.3178G>T (p.Gly1060Ter)
c.3061G>T (p.Gly1021Ter)
c.3214G>T (p.Gly1072Ter)
c.2830G>T (p.Gly944Ter)
c.2512G>T
c.1411G>T (p.Gly471Ter)
c.766G>T (p.Gly256Ter)
n.3512G>T
c.3331G>T (p.Gly1111Ter)
c.3325G>T (p.Gly1109Ter)
c.1729G>T (p.Gly577Ter)
n.3538G>T
 COSMIC COSMIC
1g.102946947C>GCA341171447COL11A1c.3178G>C (p.Gly1060Arg)
c.3061G>C (p.Gly1021Arg)
c.3214G>C (p.Gly1072Arg)
c.2830G>C (p.Gly944Arg)
c.2512G>C
c.1411G>C (p.Gly471Arg)
c.766G>C (p.Gly256Arg)
n.3512G>C
c.3331G>C (p.Gly1111Arg)
c.3325G>C (p.Gly1109Arg)
c.1729G>C (p.Gly577Arg)
n.3538G>C
1g.102946947C>TCA341171449COL11A1c.3178G>A (p.Gly1060Arg)
c.3061G>A (p.Gly1021Arg)
c.3214G>A (p.Gly1072Arg)
c.2830G>A (p.Gly944Arg)
c.2512G>A
c.1411G>A (p.Gly471Arg)
c.766G>A (p.Gly256Arg)
n.3512G>A
c.3331G>A (p.Gly1111Arg)
c.3325G>A (p.Gly1109Arg)
c.1729G>A (p.Gly577Arg)
n.3538G>A
1g.102946948T>ACA419205586COL11A1c.3177A>T (p.Pro1059=)
c.3060A>T (p.Pro1020=)
c.3213A>T (p.Pro1071=)
c.2829A>T (p.Pro943=)
c.2511A>T
c.1410A>T (p.Pro470=)
c.765A>T (p.Pro255=)
n.3511A>T
c.3330A>T (p.Pro1110=)
c.3324A>T (p.Pro1108=)
c.1728A>T (p.Pro576=)
n.3537A>T
1g.102946948T>CCA419205588COL11A1c.3177A>G (p.Pro1059=)
c.3060A>G (p.Pro1020=)
c.3213A>G (p.Pro1071=)
c.2829A>G (p.Pro943=)
c.2511A>G
c.1410A>G (p.Pro470=)
c.765A>G (p.Pro255=)
n.3511A>G
c.3330A>G (p.Pro1110=)
c.3324A>G (p.Pro1108=)
c.1728A>G (p.Pro576=)
n.3537A>G
 gnomAD v4
1g.102946948T>GCA419205589COL11A1c.3177A>C (p.Pro1059=)
c.3060A>C (p.Pro1020=)
c.3213A>C (p.Pro1071=)
c.2829A>C (p.Pro943=)
c.2511A>C
c.1410A>C (p.Pro470=)
c.765A>C (p.Pro255=)
n.3511A>C
c.3330A>C (p.Pro1110=)
c.3324A>C (p.Pro1108=)
c.1728A>C (p.Pro576=)
n.3537A>C
1g.102946949G>ACA341171451COL11A1c.3176C>T (p.Pro1059Leu)
c.3059C>T (p.Pro1020Leu)
c.3212C>T (p.Pro1071Leu)
c.2828C>T (p.Pro943Leu)
c.2510C>T
c.1409C>T (p.Pro470Leu)
c.764C>T (p.Pro255Leu)
n.3510C>T
c.3329C>T (p.Pro1110Leu)
c.3323C>T (p.Pro1108Leu)
c.1727C>T (p.Pro576Leu)
n.3536C>T
 COSMIC COSMIC
1g.102946949G>CCA341171454COL11A1c.3176C>G (p.Pro1059Arg)
c.3059C>G (p.Pro1020Arg)
c.3212C>G (p.Pro1071Arg)
c.2828C>G (p.Pro943Arg)
c.2510C>G
c.1409C>G (p.Pro470Arg)
c.764C>G (p.Pro255Arg)
n.3510C>G
c.3329C>G (p.Pro1110Arg)
c.3323C>G (p.Pro1108Arg)
c.1727C>G (p.Pro576Arg)
n.3536C>G
1g.102946949G>TCA341171456COL11A1c.3176C>A (p.Pro1059Gln)
c.3059C>A (p.Pro1020Gln)
c.3212C>A (p.Pro1071Gln)
c.2828C>A (p.Pro943Gln)
c.2510C>A
c.1409C>A (p.Pro470Gln)
c.764C>A (p.Pro255Gln)
n.3510C>A
c.3329C>A (p.Pro1110Gln)
c.3323C>A (p.Pro1108Gln)
c.1727C>A (p.Pro576Gln)
n.3536C>A
 COSMIC COSMIC
1g.102946950G>ACA341171458COL11A1c.3175C>T (p.Pro1059Ser)
c.3058C>T (p.Pro1020Ser)
c.3211C>T (p.Pro1071Ser)
c.2827C>T (p.Pro943Ser)
c.2509C>T
c.1408C>T (p.Pro470Ser)
c.763C>T (p.Pro255Ser)
n.3509C>T
c.3328C>T (p.Pro1110Ser)
c.3322C>T (p.Pro1108Ser)
c.1726C>T (p.Pro576Ser)
n.3535C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.102946950G>CCA974100COL11A1c.3175C>G (p.Pro1059Ala)
c.3058C>G (p.Pro1020Ala)
c.3211C>G (p.Pro1071Ala)
c.2827C>G (p.Pro943Ala)
c.2509C>G
c.1408C>G (p.Pro470Ala)
c.763C>G (p.Pro255Ala)
n.3509C>G
c.3328C>G (p.Pro1110Ala)
c.3322C>G (p.Pro1108Ala)
c.1726C>G (p.Pro576Ala)
n.3535C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102946950G=CA1185258777COL11A1c.3175C= (p.Pro1059=)
c.3058C= (p.Pro1020=)
c.3211C= (p.Pro1071=)
c.2827C= (p.Pro943=)
c.2509C=
c.1408C= (p.Pro470=)
c.763C= (p.Pro255=)
n.3509C=
c.3328C= (p.Pro1110=)
c.3322C= (p.Pro1108=)
c.1726C= (p.Pro576=)
n.3535C=
1g.102946950G>TCA341171462COL11A1c.3175C>A (p.Pro1059Thr)
c.3058C>A (p.Pro1020Thr)
c.3211C>A (p.Pro1071Thr)
c.2827C>A (p.Pro943Thr)
c.2509C>A
c.1408C>A (p.Pro470Thr)
c.763C>A (p.Pro255Thr)
n.3509C>A
c.3328C>A (p.Pro1110Thr)
c.3322C>A (p.Pro1108Thr)
c.1726C>A (p.Pro576Thr)
n.3535C>A
1g.102946951T>ACA419205594COL11A1c.3174A>T (p.Ser1058=)
c.3057A>T (p.Ser1019=)
c.3210A>T (p.Ser1070=)
c.2826A>T (p.Ser942=)
c.2508A>T
c.1407A>T (p.Ser469=)
c.762A>T (p.Ser254=)
n.3508A>T
c.3327A>T (p.Ser1109=)
c.3321A>T (p.Ser1107=)
c.1725A>T (p.Ser575=)
n.3534A>T
 gnomAD v4
1g.102946951T>CCA419205595COL11A1c.3174A>G (p.Ser1058=)
c.3057A>G (p.Ser1019=)
c.3210A>G (p.Ser1070=)
c.2826A>G (p.Ser942=)
c.2508A>G
c.1407A>G (p.Ser469=)
c.762A>G (p.Ser254=)
n.3508A>G
c.3327A>G (p.Ser1109=)
c.3321A>G (p.Ser1107=)
c.1725A>G (p.Ser575=)
n.3534A>G
1g.102946951T>GCA419205596COL11A1c.3174A>C (p.Ser1058=)
c.3057A>C (p.Ser1019=)
c.3210A>C (p.Ser1070=)
c.2826A>C (p.Ser942=)
c.2508A>C
c.1407A>C (p.Ser469=)
c.762A>C (p.Ser254=)
n.3508A>C
c.3327A>C (p.Ser1109=)
c.3321A>C (p.Ser1107=)
c.1725A>C (p.Ser575=)
n.3534A>C
1g.102946952G>ACA341171465COL11A1c.3173C>T (p.Ser1058Leu)
c.3056C>T (p.Ser1019Leu)
c.3209C>T (p.Ser1070Leu)
c.2825C>T (p.Ser942Leu)
c.2507C>T
c.1406C>T (p.Ser469Leu)
c.761C>T (p.Ser254Leu)
n.3507C>T
c.3326C>T (p.Ser1109Leu)
c.3320C>T (p.Ser1107Leu)
c.1724C>T (p.Ser575Leu)
n.3533C>T
1g.102946952G>CCA341171466COL11A1c.3173C>G (p.Ser1058Ter)
c.3056C>G (p.Ser1019Ter)
c.3209C>G (p.Ser1070Ter)
c.2825C>G (p.Ser942Ter)
c.2507C>G
c.1406C>G (p.Ser469Ter)
c.761C>G (p.Ser254Ter)
n.3507C>G
c.3326C>G (p.Ser1109Ter)
c.3320C>G (p.Ser1107Ter)
c.1724C>G (p.Ser575Ter)
n.3533C>G
1g.102946952G>TCA341171469COL11A1c.3173C>A (p.Ser1058Ter)
c.3056C>A (p.Ser1019Ter)
c.3209C>A (p.Ser1070Ter)
c.2825C>A (p.Ser942Ter)
c.2507C>A
c.1406C>A (p.Ser469Ter)
c.761C>A (p.Ser254Ter)
n.3507C>A
c.3326C>A (p.Ser1109Ter)
c.3320C>A (p.Ser1107Ter)
c.1724C>A (p.Ser575Ter)
n.3533C>A
1g.102946953A>CCA341171472COL11A1c.3172T>G (p.Ser1058Ala)
c.3055T>G (p.Ser1019Ala)
c.3208T>G (p.Ser1070Ala)
c.2824T>G (p.Ser942Ala)
c.2506T>G
c.1405T>G (p.Ser469Ala)
c.760T>G (p.Ser254Ala)
n.3506T>G
c.3325T>G (p.Ser1109Ala)
c.3319T>G (p.Ser1107Ala)
c.1723T>G (p.Ser575Ala)
n.3532T>G
1g.102946953A>GCA341171478COL11A1c.3172T>C (p.Ser1058Pro)
c.3055T>C (p.Ser1019Pro)
c.3208T>C (p.Ser1070Pro)
c.2824T>C (p.Ser942Pro)
c.2506T>C
c.1405T>C (p.Ser469Pro)
c.760T>C (p.Ser254Pro)
n.3506T>C
c.3325T>C (p.Ser1109Pro)
c.3319T>C (p.Ser1107Pro)
c.1723T>C (p.Ser575Pro)
n.3532T>C
1g.102946953A>TCA341171476COL11A1c.3172T>A (p.Ser1058Thr)
c.3055T>A (p.Ser1019Thr)
c.3208T>A (p.Ser1070Thr)
c.2824T>A (p.Ser942Thr)
c.2506T>A
c.1405T>A (p.Ser469Thr)
c.760T>A (p.Ser254Thr)
n.3506T>A
c.3325T>A (p.Ser1109Thr)
c.3319T>A (p.Ser1107Thr)
c.1723T>A (p.Ser575Thr)
n.3532T>A
 gnomAD v4
1g.102946954G>ACA419205604COL11A1c.3171C>T (p.Gly1057=)
c.3054C>T (p.Gly1018=)
c.3207C>T (p.Gly1069=)
c.2823C>T (p.Gly941=)
c.2505C>T
c.1404C>T (p.Gly468=)
c.759C>T (p.Gly253=)
n.3505C>T
c.3324C>T (p.Gly1108=)
c.3318C>T (p.Gly1106=)
c.1722C>T (p.Gly574=)
n.3531C>T
1g.102946954G>CCA419205603COL11A1c.3171C>G (p.Gly1057=)
c.3054C>G (p.Gly1018=)
c.3207C>G (p.Gly1069=)
c.2823C>G (p.Gly941=)
c.2505C>G
c.1404C>G (p.Gly468=)
c.759C>G (p.Gly253=)
n.3505C>G
c.3324C>G (p.Gly1108=)
c.3318C>G (p.Gly1106=)
c.1722C>G (p.Gly574=)
n.3531C>G
1g.102946954G=CA1185258780COL11A1c.3171C= (p.Gly1057=)
c.3054C= (p.Gly1018=)
c.3207C= (p.Gly1069=)
c.2823C= (p.Gly941=)
c.2505C=
c.1404C= (p.Gly468=)
c.759C= (p.Gly253=)
n.3505C=
c.3324C= (p.Gly1108=)
c.3318C= (p.Gly1106=)
c.1722C= (p.Gly574=)
n.3531C=
1g.102946954G>TCA419205599COL11A1c.3171C>A (p.Gly1057=)
c.3054C>A (p.Gly1018=)
c.3207C>A (p.Gly1069=)
c.2823C>A (p.Gly941=)
c.2505C>A
c.1404C>A (p.Gly468=)
c.759C>A (p.Gly253=)
n.3505C>A
c.3324C>A (p.Gly1108=)
c.3318C>A (p.Gly1106=)
c.1722C>A (p.Gly574=)
n.3531C>A
 dbSNP gnomAD v4
1g.102946955C>ACA341171481COL11A1c.3170G>T (p.Gly1057Val)
c.3053G>T (p.Gly1018Val)
c.3206G>T (p.Gly1069Val)
c.2822G>T (p.Gly941Val)
c.2504G>T
c.1403G>T (p.Gly468Val)
c.758G>T (p.Gly253Val)
n.3504G>T
c.3323G>T (p.Gly1108Val)
c.3317G>T (p.Gly1106Val)
c.1721G>T (p.Gly574Val)
n.3530G>T
 gnomAD v4
1g.102946955C=CA1185258782COL11A1c.3170G= (p.Gly1057=)
c.3053G= (p.Gly1018=)
c.3206G= (p.Gly1069=)
c.2822G= (p.Gly941=)
c.2504G=
c.1403G= (p.Gly468=)
c.758G= (p.Gly253=)
n.3504G=
c.3323G= (p.Gly1108=)
c.3317G= (p.Gly1106=)
c.1721G= (p.Gly574=)
n.3530G=
1g.102946955C>GCA341171484COL11A1c.3170G>C (p.Gly1057Ala)
c.3053G>C (p.Gly1018Ala)
c.3206G>C (p.Gly1069Ala)
c.2822G>C (p.Gly941Ala)
c.2504G>C
c.1403G>C (p.Gly468Ala)
c.758G>C (p.Gly253Ala)
n.3504G>C
c.3323G>C (p.Gly1108Ala)
c.3317G>C (p.Gly1106Ala)
c.1721G>C (p.Gly574Ala)
n.3530G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.102946955C>TCA341171486COL11A1c.3170G>A (p.Gly1057Asp)
c.3053G>A (p.Gly1018Asp)
c.3206G>A (p.Gly1069Asp)
c.2822G>A (p.Gly941Asp)
c.2504G>A
c.1403G>A (p.Gly468Asp)
c.758G>A (p.Gly253Asp)
n.3504G>A
c.3323G>A (p.Gly1108Asp)
c.3317G>A (p.Gly1106Asp)
c.1721G>A (p.Gly574Asp)
n.3530G>A
1g.102946956C>ACA341171495COL11A1c.3169G>T (p.Gly1057Cys)
c.3052G>T (p.Gly1018Cys)
c.3205G>T (p.Gly1069Cys)
c.2821G>T (p.Gly941Cys)
c.2503G>T
c.1402G>T (p.Gly468Cys)
c.757G>T (p.Gly253Cys)
n.3503G>T
c.3322G>T (p.Gly1108Cys)
c.3316G>T (p.Gly1106Cys)
c.1720G>T (p.Gly574Cys)
n.3529G>T
1g.102946956C>GCA341171498COL11A1c.3169G>C (p.Gly1057Arg)
c.3052G>C (p.Gly1018Arg)
c.3205G>C (p.Gly1069Arg)
c.2821G>C (p.Gly941Arg)
c.2503G>C
c.1402G>C (p.Gly468Arg)
c.757G>C (p.Gly253Arg)
n.3503G>C
c.3322G>C (p.Gly1108Arg)
c.3316G>C (p.Gly1106Arg)
c.1720G>C (p.Gly574Arg)
n.3529G>C
1g.102946956C>TCA341171502COL11A1c.3169G>A (p.Gly1057Ser)
c.3052G>A (p.Gly1018Ser)
c.3205G>A (p.Gly1069Ser)
c.2821G>A (p.Gly941Ser)
c.2503G>A
c.1402G>A (p.Gly468Ser)
c.757G>A (p.Gly253Ser)
n.3503G>A
c.3322G>A (p.Gly1108Ser)
c.3316G>A (p.Gly1106Ser)
c.1720G>A (p.Gly574Ser)
n.3529G>A
 gnomAD v4
1g.102946957C>ACA341171506COL11A1c.3169-1G>T (n.3169-1G>T)
c.3052-1G>T (n.3052-1G>T)
c.3205-1G>T (n.3205-1G>T)
c.2821-1G>T (n.2821-1G>T)
c.2503-1G>T
c.1402-1G>T (n.1402-1G>T)
c.757-1G>T (n.757-1G>T)
n.3503-1G>T
c.3322-1G>T (n.3322-1G>T)
c.3316-1G>T (n.3316-1G>T)
c.1720-1G>T (n.1720-1G>T)
n.3529-1G>T
1g.102946957C>GCA341171509COL11A1c.3169-1G>C (n.3169-1G>C)
c.3052-1G>C (n.3052-1G>C)
c.3205-1G>C (n.3205-1G>C)
c.2821-1G>C (n.2821-1G>C)
c.2503-1G>C
c.1402-1G>C (n.1402-1G>C)
c.757-1G>C (n.757-1G>C)
n.3503-1G>C
c.3322-1G>C (n.3322-1G>C)
c.3316-1G>C (n.3316-1G>C)
c.1720-1G>C (n.1720-1G>C)
n.3529-1G>C
1g.102946957C>TCA341171511COL11A1c.3169-1G>A (n.3169-1G>A)
c.3052-1G>A (n.3052-1G>A)
c.3205-1G>A (n.3205-1G>A)
c.2821-1G>A (n.2821-1G>A)
c.2503-1G>A
c.1402-1G>A (n.1402-1G>A)
c.757-1G>A (n.757-1G>A)
n.3503-1G>A
c.3322-1G>A (n.3322-1G>A)
c.3316-1G>A (n.3316-1G>A)
c.1720-1G>A (n.1720-1G>A)
n.3529-1G>A
1g.102946958T>ACA341171514COL11A1c.3169-2A>T (n.3169-2A>T)
c.3052-2A>T (n.3052-2A>T)
c.3205-2A>T (n.3205-2A>T)
c.2821-2A>T (n.2821-2A>T)
c.2503-2A>T
c.1402-2A>T (n.1402-2A>T)
c.757-2A>T (n.757-2A>T)
n.3503-2A>T
c.3322-2A>T (n.3322-2A>T)
c.3316-2A>T (n.3316-2A>T)
c.1720-2A>T (n.1720-2A>T)
n.3529-2A>T
1g.102946958T>CCA341171520COL11A1c.3169-2A>G (n.3169-2A>G)
c.3052-2A>G (n.3052-2A>G)
c.3205-2A>G (n.3205-2A>G)
c.2821-2A>G (n.2821-2A>G)
c.2503-2A>G
c.1402-2A>G (n.1402-2A>G)
c.757-2A>G (n.757-2A>G)
n.3503-2A>G
c.3322-2A>G (n.3322-2A>G)
c.3316-2A>G (n.3316-2A>G)
c.1720-2A>G (n.1720-2A>G)
n.3529-2A>G
 ClinVar
1g.102946958T>GCA341171524COL11A1c.3169-2A>C (n.3169-2A>C)
c.3052-2A>C (n.3052-2A>C)
c.3205-2A>C (n.3205-2A>C)
c.2821-2A>C (n.2821-2A>C)
c.2503-2A>C
c.1402-2A>C (n.1402-2A>C)
c.757-2A>C (n.757-2A>C)
n.3503-2A>C
c.3322-2A>C (n.3322-2A>C)
c.3316-2A>C (n.3316-2A>C)
c.1720-2A>C (n.1720-2A>C)
n.3529-2A>C
1g.102946959A=CA1185258786COL11A1c.3169-3T= (n.3169-3T=)
c.3052-3T= (n.3052-3T=)
c.3205-3T= (n.3205-3T=)
c.2821-3T= (n.2821-3T=)
c.2503-3T=
c.1402-3T= (n.1402-3T=)
c.757-3T= (n.757-3T=)
n.3503-3T=
c.3322-3T= (n.3322-3T=)
c.3316-3T= (n.3316-3T=)
c.1720-3T= (n.1720-3T=)
n.3529-3T=
1g.102946959A>GCA1185258788COL11A1c.3169-3T>C (n.3169-3T>C)
c.3052-3T>C (n.3052-3T>C)
c.3205-3T>C (n.3205-3T>C)
c.2821-3T>C (n.2821-3T>C)
c.2503-3T>C
c.1402-3T>C (n.1402-3T>C)
c.757-3T>C (n.757-3T>C)
n.3503-3T>C
c.3322-3T>C (n.3322-3T>C)
c.3316-3T>C (n.3316-3T>C)
c.1720-3T>C (n.1720-3T>C)
n.3529-3T>C
 ClinVar dbSNP gnomAD v4
1g.102946959_102946961delinsAGTCA1185258784COL11A1c.3169-5_3169-3delinsACT (n.3169-5_3169-3delinsACT)
c.3052-5_3052-3delinsACT (n.3052-5_3052-3delinsACT)
c.3205-5_3205-3delinsACT (n.3205-5_3205-3delinsACT)
c.2821-5_2821-3delinsACT (n.2821-5_2821-3delinsACT)
c.2503-5_2503-3delinsACT
c.1402-5_1402-3delinsACT (n.1402-5_1402-3delinsACT)
c.757-5_757-3delinsACT (n.757-5_757-3delinsACT)
n.3503-5_3503-3delinsACT
c.3322-5_3322-3delinsACT (n.3322-5_3322-3delinsACT)
c.3316-5_3316-3delinsACT (n.3316-5_3316-3delinsACT)
c.1720-5_1720-3delinsACT (n.1720-5_1720-3delinsACT)
n.3529-5_3529-3delinsACT
1g.102946960G>TCA2573130864COL11A1c.3169-4C>A (n.3169-4C>A)
c.3052-4C>A (n.3052-4C>A)
c.3205-4C>A (n.3205-4C>A)
c.2821-4C>A (n.2821-4C>A)
c.2503-4C>A
c.1402-4C>A (n.1402-4C>A)
c.757-4C>A (n.757-4C>A)
n.3503-4C>A
c.3322-4C>A (n.3322-4C>A)
c.3316-4C>A (n.3316-4C>A)
c.1720-4C>A (n.1720-4C>A)
n.3529-4C>A
 ClinVar dbSNP gnomAD v4
1g.102946960_102946961delCA974101COL11A1c.3169-5_3169-4del (n.3169-5_3169-4del)
c.3052-5_3052-4del (n.3052-5_3052-4del)
c.3205-5_3205-4del (n.3205-5_3205-4del)
c.2821-5_2821-4del (n.2821-5_2821-4del)
c.2503-5_2503-4del
c.1402-5_1402-4del (n.1402-5_1402-4del)
c.757-5_757-4del (n.757-5_757-4del)
n.3503-5_3503-4del
c.3322-5_3322-4del (n.3322-5_3322-4del)
c.3316-5_3316-4del (n.3316-5_3316-4del)
c.1720-5_1720-4del (n.1720-5_1720-4del)
n.3529-5_3529-4del
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.102946961T>ACA884748975COL11A1c.3169-5A>T (n.3169-5A>T)
c.3052-5A>T (n.3052-5A>T)
c.3205-5A>T (n.3205-5A>T)
c.2821-5A>T (n.2821-5A>T)
c.2503-5A>T
c.1402-5A>T (n.1402-5A>T)
c.757-5A>T (n.757-5A>T)
n.3503-5A>T
c.3322-5A>T (n.3322-5A>T)
c.3316-5A>T (n.3316-5A>T)
c.1720-5A>T (n.1720-5A>T)
n.3529-5A>T
 ClinVar dbSNP gnomAD v4
1g.102946961T>CCA974102COL11A1c.3169-5A>G (n.3169-5A>G)
c.3052-5A>G (n.3052-5A>G)
c.3205-5A>G (n.3205-5A>G)
c.2821-5A>G (n.2821-5A>G)
c.2503-5A>G
c.1402-5A>G (n.1402-5A>G)
c.757-5A>G (n.757-5A>G)
n.3503-5A>G
c.3322-5A>G (n.3322-5A>G)
c.3316-5A>G (n.3316-5A>G)
c.1720-5A>G (n.1720-5A>G)
n.3529-5A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.102946961T=CA1185258791COL11A1c.3169-5A= (n.3169-5A=)
c.3052-5A= (n.3052-5A=)
c.3205-5A= (n.3205-5A=)
c.2821-5A= (n.2821-5A=)
c.2503-5A=
c.1402-5A= (n.1402-5A=)
c.757-5A= (n.757-5A=)
n.3503-5A=
c.3322-5A= (n.3322-5A=)
c.3316-5A= (n.3316-5A=)
c.1720-5A= (n.1720-5A=)
n.3529-5A=
1g.102946962A=CA1148462890COL11A1c.3169-6T= (n.3169-6T=)
c.3052-6T= (n.3052-6T=)
c.3205-6T= (n.3205-6T=)
c.2821-6T= (n.2821-6T=)
c.2503-6T=
c.1402-6T= (n.1402-6T=)
c.757-6T= (n.757-6T=)
n.3503-6T=
c.3322-6T= (n.3322-6T=)
c.3316-6T= (n.3316-6T=)
c.1720-6T= (n.1720-6T=)
n.3529-6T=
1g.102946962A>GCA884748981COL11A1c.3169-6T>C (n.3169-6T>C)
c.3052-6T>C (n.3052-6T>C)
c.3205-6T>C (n.3205-6T>C)
c.2821-6T>C (n.2821-6T>C)
c.2503-6T>C
c.1402-6T>C (n.1402-6T>C)
c.757-6T>C (n.757-6T>C)
n.3503-6T>C
c.3322-6T>C (n.3322-6T>C)
c.3316-6T>C (n.3316-6T>C)
c.1720-6T>C (n.1720-6T>C)
n.3529-6T>C
 dbSNP gnomAD v4
1g.102946962A>TCA974103COL11A1c.3169-6T>A (n.3169-6T>A)
c.3052-6T>A (n.3052-6T>A)
c.3205-6T>A (n.3205-6T>A)
c.2821-6T>A (n.2821-6T>A)
c.2503-6T>A
c.1402-6T>A (n.1402-6T>A)
c.757-6T>A (n.757-6T>A)
n.3503-6T>A
c.3322-6T>A (n.3322-6T>A)
c.3316-6T>A (n.3316-6T>A)
c.1720-6T>A (n.1720-6T>A)
n.3529-6T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.102946963T>CCA884748986COL11A1c.3169-7A>G (n.3169-7A>G)
c.3052-7A>G (n.3052-7A>G)
c.3205-7A>G (n.3205-7A>G)
c.2821-7A>G (n.2821-7A>G)
c.2503-7A>G
c.1402-7A>G (n.1402-7A>G)
c.757-7A>G (n.757-7A>G)
n.3503-7A>G
c.3322-7A>G (n.3322-7A>G)
c.3316-7A>G (n.3316-7A>G)
c.1720-7A>G (n.1720-7A>G)
n.3529-7A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.102946963T=CA1185258798COL11A1c.3169-7A= (n.3169-7A=)
c.3052-7A= (n.3052-7A=)
c.3205-7A= (n.3205-7A=)
c.2821-7A= (n.2821-7A=)
c.2503-7A=
c.1402-7A= (n.1402-7A=)
c.757-7A= (n.757-7A=)
n.3503-7A=
c.3322-7A= (n.3322-7A=)
c.3316-7A= (n.3316-7A=)
c.1720-7A= (n.1720-7A=)
n.3529-7A=
1g.102946965C>ACA2697552583COL11A1c.3169-9G>T (n.3169-9G>T)
c.3052-9G>T (n.3052-9G>T)
c.3205-9G>T (n.3205-9G>T)
c.2821-9G>T (n.2821-9G>T)
c.2503-9G>T
c.1402-9G>T (n.1402-9G>T)
c.757-9G>T (n.757-9G>T)
n.3503-9G>T
c.3322-9G>T (n.3322-9G>T)
c.3316-9G>T (n.3316-9G>T)
c.1720-9G>T (n.1720-9G>T)
n.3529-9G>T
 ClinVar
1g.102946965C>GCA2574449525COL11A1c.3169-9G>C (n.3169-9G>C)
c.3052-9G>C (n.3052-9G>C)
c.3205-9G>C (n.3205-9G>C)
c.2821-9G>C (n.2821-9G>C)
c.2503-9G>C
c.1402-9G>C (n.1402-9G>C)
c.757-9G>C (n.757-9G>C)
n.3503-9G>C
c.3322-9G>C (n.3322-9G>C)
c.3316-9G>C (n.3316-9G>C)
c.1720-9G>C (n.1720-9G>C)
n.3529-9G>C
1g.102946966A=CA1185258800COL11A1c.3169-10T= (n.3169-10T=)
c.3052-10T= (n.3052-10T=)
c.3205-10T= (n.3205-10T=)
c.2821-10T= (n.2821-10T=)
c.2503-10T=
c.1402-10T= (n.1402-10T=)
c.757-10T= (n.757-10T=)
n.3503-10T=
c.3322-10T= (n.3322-10T=)
c.3316-10T= (n.3316-10T=)
c.1720-10T= (n.1720-10T=)
n.3529-10T=
1g.102946966A>GCA974104COL11A1c.3169-10T>C (n.3169-10T>C)
c.3052-10T>C (n.3052-10T>C)
c.3205-10T>C (n.3205-10T>C)
c.2821-10T>C (n.2821-10T>C)
c.2503-10T>C
c.1402-10T>C (n.1402-10T>C)
c.757-10T>C (n.757-10T>C)
n.3503-10T>C
c.3322-10T>C (n.3322-10T>C)
c.3316-10T>C (n.3316-10T>C)
c.1720-10T>C (n.1720-10T>C)
n.3529-10T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.102946967G>CCA2646803727COL11A1c.3169-11C>G (n.3169-11C>G)
c.3052-11C>G (n.3052-11C>G)
c.3205-11C>G (n.3205-11C>G)
c.2821-11C>G (n.2821-11C>G)
c.2503-11C>G
c.1402-11C>G (n.1402-11C>G)
c.757-11C>G (n.757-11C>G)
n.3503-11C>G
c.3322-11C>G (n.3322-11C>G)
c.3316-11C>G (n.3316-11C>G)
c.1720-11C>G (n.1720-11C>G)
n.3529-11C>G
 gnomAD v4
1g.102946967G=CA1185258802COL11A1c.3169-11C= (n.3169-11C=)
c.3052-11C= (n.3052-11C=)
c.3205-11C= (n.3205-11C=)
c.2821-11C= (n.2821-11C=)
c.2503-11C=
c.1402-11C= (n.1402-11C=)
c.757-11C= (n.757-11C=)
n.3503-11C=
c.3322-11C= (n.3322-11C=)
c.3316-11C= (n.3316-11C=)
c.1720-11C= (n.1720-11C=)
n.3529-11C=
1g.102946967G>TCA884748988COL11A1c.3169-11C>A (n.3169-11C>A)
c.3052-11C>A (n.3052-11C>A)
c.3205-11C>A (n.3205-11C>A)
c.2821-11C>A (n.2821-11C>A)
c.2503-11C>A
c.1402-11C>A (n.1402-11C>A)
c.757-11C>A (n.757-11C>A)
n.3503-11C>A
c.3322-11C>A (n.3322-11C>A)
c.3316-11C>A (n.3316-11C>A)
c.1720-11C>A (n.1720-11C>A)
n.3529-11C>A
 ClinVar dbSNP
1g.102946968G>ACA645753092COL11A1c.3169-12C>T (n.3169-12C>T)
c.3052-12C>T (n.3052-12C>T)
c.3205-12C>T (n.3205-12C>T)
c.2821-12C>T (n.2821-12C>T)
c.2503-12C>T
c.1402-12C>T (n.1402-12C>T)
c.757-12C>T (n.757-12C>T)
n.3503-12C>T
c.3322-12C>T (n.3322-12C>T)
c.3316-12C>T (n.3316-12C>T)
c.1720-12C>T (n.1720-12C>T)
n.3529-12C>T
 COSMIC
1g.102946968G>CCA2646803729COL11A1c.3169-12C>G (n.3169-12C>G)
c.3052-12C>G (n.3052-12C>G)
c.3205-12C>G (n.3205-12C>G)
c.2821-12C>G (n.2821-12C>G)
c.2503-12C>G
c.1402-12C>G (n.1402-12C>G)
c.757-12C>G (n.757-12C>G)
n.3503-12C>G
c.3322-12C>G (n.3322-12C>G)
c.3316-12C>G (n.3316-12C>G)
c.1720-12C>G (n.1720-12C>G)
n.3529-12C>G
 gnomAD v4
1g.102946969A=CA1142576821COL11A1c.3169-13T= (n.3169-13T=)
c.3052-13T= (n.3052-13T=)
c.3205-13T= (n.3205-13T=)
c.2821-13T= (n.2821-13T=)
c.2503-13T=
c.1402-13T= (n.1402-13T=)
c.757-13T= (n.757-13T=)
n.3503-13T=
c.3322-13T= (n.3322-13T=)
c.3316-13T= (n.3316-13T=)
c.1720-13T= (n.1720-13T=)
n.3529-13T=
1g.102946969A>GCA974105COL11A1c.3169-13T>C (n.3169-13T>C)
c.3052-13T>C (n.3052-13T>C)
c.3205-13T>C (n.3205-13T>C)
c.2821-13T>C (n.2821-13T>C)
c.2503-13T>C
c.1402-13T>C (n.1402-13T>C)
c.757-13T>C (n.757-13T>C)
n.3503-13T>C
c.3322-13T>C (n.3322-13T>C)
c.3316-13T>C (n.3316-13T>C)
c.1720-13T>C (n.1720-13T>C)
n.3529-13T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102946969A>TCA974106COL11A1c.3169-13T>A (n.3169-13T>A)
c.3052-13T>A (n.3052-13T>A)
c.3205-13T>A (n.3205-13T>A)
c.2821-13T>A (n.2821-13T>A)
c.2503-13T>A
c.1402-13T>A (n.1402-13T>A)
c.757-13T>A (n.757-13T>A)
n.3503-13T>A
c.3322-13T>A (n.3322-13T>A)
c.3316-13T>A (n.3316-13T>A)
c.1720-13T>A (n.1720-13T>A)
n.3529-13T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102946970_102946973delinsAAAGCA1185258804COL11A1c.3169-17_3169-14delinsCTTT (n.3169-17_3169-14delinsCTTT)
c.3052-17_3052-14delinsCTTT (n.3052-17_3052-14delinsCTTT)
c.3205-17_3205-14delinsCTTT (n.3205-17_3205-14delinsCTTT)
c.2821-17_2821-14delinsCTTT (n.2821-17_2821-14delinsCTTT)
c.2503-17_2503-14delinsCTTT
c.1402-17_1402-14delinsCTTT (n.1402-17_1402-14delinsCTTT)
c.757-17_757-14delinsCTTT (n.757-17_757-14delinsCTTT)
n.3503-17_3503-14delinsCTTT
c.3322-17_3322-14delinsCTTT (n.3322-17_3322-14delinsCTTT)
c.3316-17_3316-14delinsCTTT (n.3316-17_3316-14delinsCTTT)
c.1720-17_1720-14delinsCTTT (n.1720-17_1720-14delinsCTTT)
n.3529-17_3529-14delinsCTTT
1g.102946971A=CA1185258807COL11A1c.3169-15T= (n.3169-15T=)
c.3052-15T= (n.3052-15T=)
c.3205-15T= (n.3205-15T=)
c.2821-15T= (n.2821-15T=)
c.2503-15T=
c.1402-15T= (n.1402-15T=)
c.757-15T= (n.757-15T=)
n.3503-15T=
c.3322-15T= (n.3322-15T=)
c.3316-15T= (n.3316-15T=)
c.1720-15T= (n.1720-15T=)
n.3529-15T=
1g.102946971A>GCA524894214COL11A1c.3169-15T>C (n.3169-15T>C)
c.3052-15T>C (n.3052-15T>C)
c.3205-15T>C (n.3205-15T>C)
c.2821-15T>C (n.2821-15T>C)
c.2503-15T>C
c.1402-15T>C (n.1402-15T>C)
c.757-15T>C (n.757-15T>C)
n.3503-15T>C
c.3322-15T>C (n.3322-15T>C)
c.3316-15T>C (n.3316-15T>C)
c.1720-15T>C (n.1720-15T>C)
n.3529-15T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.102946974_102946976delCA884748997COL11A1c.3169-17_3169-15del (n.3169-17_3169-15del)
c.3052-17_3052-15del (n.3052-17_3052-15del)
c.3205-17_3205-15del (n.3205-17_3205-15del)
c.2821-17_2821-15del (n.2821-17_2821-15del)
c.2503-17_2503-15del
c.1402-17_1402-15del (n.1402-17_1402-15del)
c.757-17_757-15del (n.757-17_757-15del)
n.3503-17_3503-15del
c.3322-17_3322-15del (n.3322-17_3322-15del)
c.3316-17_3316-15del (n.3316-17_3316-15del)
c.1720-17_1720-15del (n.1720-17_1720-15del)
n.3529-17_3529-15del
 dbSNP gnomAD v3 gnomAD v4
1g.102946972A=CA1140990149COL11A1c.3169-16T= (n.3169-16T=)
c.3052-16T= (n.3052-16T=)
c.3205-16T= (n.3205-16T=)
c.2821-16T= (n.2821-16T=)
c.2503-16T=
c.1402-16T= (n.1402-16T=)
c.757-16T= (n.757-16T=)
n.3503-16T=
c.3322-16T= (n.3322-16T=)
c.3316-16T= (n.3316-16T=)
c.1720-16T= (n.1720-16T=)
n.3529-16T=
1g.102946972A>GCA974107COL11A1c.3169-16T>C (n.3169-16T>C)
c.3052-16T>C (n.3052-16T>C)
c.3205-16T>C (n.3205-16T>C)
c.2821-16T>C (n.2821-16T>C)
c.2503-16T>C
c.1402-16T>C (n.1402-16T>C)
c.757-16T>C (n.757-16T>C)
n.3503-16T>C
c.3322-16T>C (n.3322-16T>C)
c.3316-16T>C (n.3316-16T>C)
c.1720-16T>C (n.1720-16T>C)
n.3529-16T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102946973G>ACA2646803734COL11A1c.3169-17C>T (n.3169-17C>T)
c.3052-17C>T (n.3052-17C>T)
c.3205-17C>T (n.3205-17C>T)
c.2821-17C>T (n.2821-17C>T)
c.2503-17C>T
c.1402-17C>T (n.1402-17C>T)
c.757-17C>T (n.757-17C>T)
n.3503-17C>T
c.3322-17C>T (n.3322-17C>T)
c.3316-17C>T (n.3316-17C>T)
c.1720-17C>T (n.1720-17C>T)
n.3529-17C>T
 gnomAD v4
1g.102946973G=CA1144156597COL11A1c.3169-17C= (n.3169-17C=)
c.3052-17C= (n.3052-17C=)
c.3205-17C= (n.3205-17C=)
c.2821-17C= (n.2821-17C=)
c.2503-17C=
c.1402-17C= (n.1402-17C=)
c.757-17C= (n.757-17C=)
n.3503-17C=
c.3322-17C= (n.3322-17C=)
c.3316-17C= (n.3316-17C=)
c.1720-17C= (n.1720-17C=)
n.3529-17C=
1g.102946973G>TCA974108COL11A1c.3169-17C>A (n.3169-17C>A)
c.3052-17C>A (n.3052-17C>A)
c.3205-17C>A (n.3205-17C>A)
c.2821-17C>A (n.2821-17C>A)
c.2503-17C>A
c.1402-17C>A (n.1402-17C>A)
c.757-17C>A (n.757-17C>A)
n.3503-17C>A
c.3322-17C>A (n.3322-17C>A)
c.3316-17C>A (n.3316-17C>A)
c.1720-17C>A (n.1720-17C>A)
n.3529-17C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.102946975A=CA1185258813COL11A1c.3169-19T= (n.3169-19T=)
c.3052-19T= (n.3052-19T=)
c.3205-19T= (n.3205-19T=)
c.2821-19T= (n.2821-19T=)
c.2503-19T=
c.1402-19T= (n.1402-19T=)
c.757-19T= (n.757-19T=)
n.3503-19T=
c.3322-19T= (n.3322-19T=)
c.3316-19T= (n.3316-19T=)
c.1720-19T= (n.1720-19T=)
n.3529-19T=
1g.102946975A>GCA974109COL11A1c.3169-19T>C (n.3169-19T>C)
c.3052-19T>C (n.3052-19T>C)
c.3205-19T>C (n.3205-19T>C)
c.2821-19T>C (n.2821-19T>C)
c.2503-19T>C
c.1402-19T>C (n.1402-19T>C)
c.757-19T>C (n.757-19T>C)
n.3503-19T>C
c.3322-19T>C (n.3322-19T>C)
c.3316-19T>C (n.3316-19T>C)
c.1720-19T>C (n.1720-19T>C)
n.3529-19T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.102946976G>ACA884749008COL11A1c.3169-20C>T (n.3169-20C>T)
c.3052-20C>T (n.3052-20C>T)
c.3205-20C>T (n.3205-20C>T)
c.2821-20C>T (n.2821-20C>T)
c.2503-20C>T
c.1402-20C>T (n.1402-20C>T)
c.757-20C>T (n.757-20C>T)
n.3503-20C>T
c.3322-20C>T (n.3322-20C>T)
c.3316-20C>T (n.3316-20C>T)
c.1720-20C>T (n.1720-20C>T)
n.3529-20C>T
 dbSNP gnomAD v3 gnomAD v4
1g.102946976G>CCA974110COL11A1c.3169-20C>G (n.3169-20C>G)
c.3052-20C>G (n.3052-20C>G)
c.3205-20C>G (n.3205-20C>G)
c.2821-20C>G (n.2821-20C>G)
c.2503-20C>G
c.1402-20C>G (n.1402-20C>G)
c.757-20C>G (n.757-20C>G)
n.3503-20C>G
c.3322-20C>G (n.3322-20C>G)
c.3316-20C>G (n.3316-20C>G)
c.1720-20C>G (n.1720-20C>G)
n.3529-20C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102946976G=CA1185258815COL11A1c.3169-20C= (n.3169-20C=)
c.3052-20C= (n.3052-20C=)
c.3205-20C= (n.3205-20C=)
c.2821-20C= (n.2821-20C=)
c.2503-20C=
c.1402-20C= (n.1402-20C=)
c.757-20C= (n.757-20C=)
n.3503-20C=
c.3322-20C= (n.3322-20C=)
c.3316-20C= (n.3316-20C=)
c.1720-20C= (n.1720-20C=)
n.3529-20C=
1g.102946977T>CCA645753093COL11A1c.3169-21A>G (n.3169-21A>G)
c.3052-21A>G (n.3052-21A>G)
c.3205-21A>G (n.3205-21A>G)
c.2821-21A>G (n.2821-21A>G)
c.2503-21A>G
c.1402-21A>G (n.1402-21A>G)
c.757-21A>G (n.757-21A>G)
n.3503-21A>G
c.3322-21A>G (n.3322-21A>G)
c.3316-21A>G (n.3316-21A>G)
c.1720-21A>G (n.1720-21A>G)
n.3529-21A>G
 COSMIC
1g.102946978A=CA1185258818COL11A1c.3169-22T= (n.3169-22T=)
c.3052-22T= (n.3052-22T=)
c.3205-22T= (n.3205-22T=)
c.2821-22T= (n.2821-22T=)
c.2503-22T=
c.1402-22T= (n.1402-22T=)
c.757-22T= (n.757-22T=)
n.3503-22T=
c.3322-22T= (n.3322-22T=)
c.3316-22T= (n.3316-22T=)
c.1720-22T= (n.1720-22T=)
n.3529-22T=
1g.102946978A>GCA524894220COL11A1c.3169-22T>C (n.3169-22T>C)
c.3052-22T>C (n.3052-22T>C)
c.3205-22T>C (n.3205-22T>C)
c.2821-22T>C (n.2821-22T>C)
c.2503-22T>C
c.1402-22T>C (n.1402-22T>C)
c.757-22T>C (n.757-22T>C)
n.3503-22T>C
c.3322-22T>C (n.3322-22T>C)
c.3316-22T>C (n.3316-22T>C)
c.1720-22T>C (n.1720-22T>C)
n.3529-22T>C
 dbSNP gnomAD v2 gnomAD v4
1g.102946979T>CCA2646803741COL11A1c.3169-23A>G (n.3169-23A>G)
c.3052-23A>G (n.3052-23A>G)
c.3205-23A>G (n.3205-23A>G)
c.2821-23A>G (n.2821-23A>G)
c.2503-23A>G
c.1402-23A>G (n.1402-23A>G)
c.757-23A>G (n.757-23A>G)
n.3503-23A>G
c.3322-23A>G (n.3322-23A>G)
c.3316-23A>G (n.3316-23A>G)
c.1720-23A>G (n.1720-23A>G)
n.3529-23A>G
 gnomAD v4
1g.102946982delCA2646803740COL11A1c.3169-23del (n.3169-23del)
c.3052-23del (n.3052-23del)
c.3205-23del (n.3205-23del)
c.2821-23del (n.2821-23del)
c.2503-23del
c.1402-23del (n.1402-23del)
c.757-23del (n.757-23del)
n.3503-23del
c.3322-23del (n.3322-23del)
c.3316-23del (n.3316-23del)
c.1720-23del (n.1720-23del)
n.3529-23del
 gnomAD v4
1g.102946983G>ACA524894221COL11A1c.3169-27C>T (n.3169-27C>T)
c.3052-27C>T (n.3052-27C>T)
c.3205-27C>T (n.3205-27C>T)
c.2821-27C>T (n.2821-27C>T)
c.2503-27C>T
c.1402-27C>T (n.1402-27C>T)
c.757-27C>T (n.757-27C>T)
n.3503-27C>T
c.3322-27C>T (n.3322-27C>T)
c.3316-27C>T (n.3316-27C>T)
c.1720-27C>T (n.1720-27C>T)
n.3529-27C>T
 dbSNP gnomAD v2 gnomAD v4
1g.102946983G>CCA524894223COL11A1c.3169-27C>G (n.3169-27C>G)
c.3052-27C>G (n.3052-27C>G)
c.3205-27C>G (n.3205-27C>G)
c.2821-27C>G (n.2821-27C>G)
c.2503-27C>G
c.1402-27C>G (n.1402-27C>G)
c.757-27C>G (n.757-27C>G)
n.3503-27C>G
c.3322-27C>G (n.3322-27C>G)
c.3316-27C>G (n.3316-27C>G)
c.1720-27C>G (n.1720-27C>G)
n.3529-27C>G
 dbSNP gnomAD v2 gnomAD v4
1g.102946983G=CA1185258820COL11A1c.3169-27C= (n.3169-27C=)
c.3052-27C= (n.3052-27C=)
c.3205-27C= (n.3205-27C=)
c.2821-27C= (n.2821-27C=)
c.2503-27C=
c.1402-27C= (n.1402-27C=)
c.757-27C= (n.757-27C=)
n.3503-27C=
c.3322-27C= (n.3322-27C=)
c.3316-27C= (n.3316-27C=)
c.1720-27C= (n.1720-27C=)
n.3529-27C=
1g.102946983G>TCA2574449526COL11A1c.3169-27C>A (n.3169-27C>A)
c.3052-27C>A (n.3052-27C>A)
c.3205-27C>A (n.3205-27C>A)
c.2821-27C>A (n.2821-27C>A)
c.2503-27C>A
c.1402-27C>A (n.1402-27C>A)
c.757-27C>A (n.757-27C>A)
n.3503-27C>A
c.3322-27C>A (n.3322-27C>A)
c.3316-27C>A (n.3316-27C>A)
c.1720-27C>A (n.1720-27C>A)
n.3529-27C>A
 gnomAD v4
1g.102946984T>CCA1185258823COL11A1c.3169-28A>G (n.3169-28A>G)
c.3052-28A>G (n.3052-28A>G)
c.3205-28A>G (n.3205-28A>G)
c.2821-28A>G (n.2821-28A>G)
c.2503-28A>G
c.1402-28A>G (n.1402-28A>G)
c.757-28A>G (n.757-28A>G)
n.3503-28A>G
c.3322-28A>G (n.3322-28A>G)
c.3316-28A>G (n.3316-28A>G)
c.1720-28A>G (n.1720-28A>G)
n.3529-28A>G
 dbSNP gnomAD v4
1g.102946984T=CA1185258822COL11A1c.3169-28A= (n.3169-28A=)
c.3052-28A= (n.3052-28A=)
c.3205-28A= (n.3205-28A=)
c.2821-28A= (n.2821-28A=)
c.2503-28A=
c.1402-28A= (n.1402-28A=)
c.757-28A= (n.757-28A=)
n.3503-28A=
c.3322-28A= (n.3322-28A=)
c.3316-28A= (n.3316-28A=)
c.1720-28A= (n.1720-28A=)
n.3529-28A=
1g.102946985T>CCA2646803744COL11A1c.3169-29A>G (n.3169-29A>G)
c.3052-29A>G (n.3052-29A>G)
c.3205-29A>G (n.3205-29A>G)
c.2821-29A>G (n.2821-29A>G)
c.2503-29A>G
c.1402-29A>G (n.1402-29A>G)
c.757-29A>G (n.757-29A>G)
n.3503-29A>G
c.3322-29A>G (n.3322-29A>G)
c.3316-29A>G (n.3316-29A>G)
c.1720-29A>G (n.1720-29A>G)
n.3529-29A>G
 gnomAD v4
1g.102946986_102946987delinsATCA1185258825COL11A1c.3169-31_3169-30delinsAT (n.3169-31_3169-30delinsAT)
c.3052-31_3052-30delinsAT (n.3052-31_3052-30delinsAT)
c.3205-31_3205-30delinsAT (n.3205-31_3205-30delinsAT)
c.2821-31_2821-30delinsAT (n.2821-31_2821-30delinsAT)
c.2503-31_2503-30delinsAT
c.1402-31_1402-30delinsAT (n.1402-31_1402-30delinsAT)
c.757-31_757-30delinsAT (n.757-31_757-30delinsAT)
n.3503-31_3503-30delinsAT
c.3322-31_3322-30delinsAT (n.3322-31_3322-30delinsAT)
c.3316-31_3316-30delinsAT (n.3316-31_3316-30delinsAT)
c.1720-31_1720-30delinsAT (n.1720-31_1720-30delinsAT)
n.3529-31_3529-30delinsAT
1g.102946987T>CCA974111COL11A1c.3169-31A>G (n.3169-31A>G)
c.3052-31A>G (n.3052-31A>G)
c.3205-31A>G (n.3205-31A>G)
c.2821-31A>G (n.2821-31A>G)
c.2503-31A>G
c.1402-31A>G (n.1402-31A>G)
c.757-31A>G (n.757-31A>G)
n.3503-31A>G
c.3322-31A>G (n.3322-31A>G)
c.3316-31A>G (n.3316-31A>G)
c.1720-31A>G (n.1720-31A>G)
n.3529-31A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102946987T=CA1185258827COL11A1c.3169-31A= (n.3169-31A=)
c.3052-31A= (n.3052-31A=)
c.3205-31A= (n.3205-31A=)
c.2821-31A= (n.2821-31A=)
c.2503-31A=
c.1402-31A= (n.1402-31A=)
c.757-31A= (n.757-31A=)
n.3503-31A=
c.3322-31A= (n.3322-31A=)
c.3316-31A= (n.3316-31A=)
c.1720-31A= (n.1720-31A=)
n.3529-31A=
1g.102946988delCA884749029COL11A1c.3169-31del (n.3169-31del)
c.3052-31del (n.3052-31del)
c.3205-31del (n.3205-31del)
c.2821-31del (n.2821-31del)
c.2503-31del
c.1402-31del (n.1402-31del)
c.757-31del (n.757-31del)
n.3503-31del
c.3322-31del (n.3322-31del)
c.3316-31del (n.3316-31del)
c.1720-31del (n.1720-31del)
n.3529-31del
 dbSNP gnomAD v3 gnomAD v4
1g.102946988T>ACA2646803748COL11A1c.3169-32A>T (n.3169-32A>T)
c.3052-32A>T (n.3052-32A>T)
c.3205-32A>T (n.3205-32A>T)
c.2821-32A>T (n.2821-32A>T)
c.2503-32A>T
c.1402-32A>T (n.1402-32A>T)
c.757-32A>T (n.757-32A>T)
n.3503-32A>T
c.3322-32A>T (n.3322-32A>T)
c.3316-32A>T (n.3316-32A>T)
c.1720-32A>T (n.1720-32A>T)
n.3529-32A>T
 gnomAD v4
1g.102946988_102946992delinsTAAAGCA1185258829COL11A1c.3169-36_3169-32delinsCTTTA (n.3169-36_3169-32delinsCTTTA)
c.3052-36_3052-32delinsCTTTA (n.3052-36_3052-32delinsCTTTA)
c.3205-36_3205-32delinsCTTTA (n.3205-36_3205-32delinsCTTTA)
c.2821-36_2821-32delinsCTTTA (n.2821-36_2821-32delinsCTTTA)
c.2503-36_2503-32delinsCTTTA
c.1402-36_1402-32delinsCTTTA (n.1402-36_1402-32delinsCTTTA)
c.757-36_757-32delinsCTTTA (n.757-36_757-32delinsCTTTA)
n.3503-36_3503-32delinsCTTTA
c.3322-36_3322-32delinsCTTTA (n.3322-36_3322-32delinsCTTTA)
c.3316-36_3316-32delinsCTTTA (n.3316-36_3316-32delinsCTTTA)
c.1720-36_1720-32delinsCTTTA (n.1720-36_1720-32delinsCTTTA)
n.3529-36_3529-32delinsCTTTA
1g.102946989A=CA1185258831COL11A1c.3169-33T= (n.3169-33T=)
c.3052-33T= (n.3052-33T=)
c.3205-33T= (n.3205-33T=)
c.2821-33T= (n.2821-33T=)
c.2503-33T=
c.1402-33T= (n.1402-33T=)
c.757-33T= (n.757-33T=)
n.3503-33T=
c.3322-33T= (n.3322-33T=)
c.3316-33T= (n.3316-33T=)
c.1720-33T= (n.1720-33T=)
n.3529-33T=
1g.102946989A>GCA524894226COL11A1c.3169-33T>C (n.3169-33T>C)
c.3052-33T>C (n.3052-33T>C)
c.3205-33T>C (n.3205-33T>C)
c.2821-33T>C (n.2821-33T>C)
c.2503-33T>C
c.1402-33T>C (n.1402-33T>C)
c.757-33T>C (n.757-33T>C)
n.3503-33T>C
c.3322-33T>C (n.3322-33T>C)
c.3316-33T>C (n.3316-33T>C)
c.1720-33T>C (n.1720-33T>C)
n.3529-33T>C
 dbSNP gnomAD v2 gnomAD v4
1g.102946993_102946996delCA974112COL11A1c.3169-36_3169-33del (n.3169-36_3169-33del)
c.3052-36_3052-33del (n.3052-36_3052-33del)
c.3205-36_3205-33del (n.3205-36_3205-33del)
c.2821-36_2821-33del (n.2821-36_2821-33del)
c.2503-36_2503-33del
c.1402-36_1402-33del (n.1402-36_1402-33del)
c.757-36_757-33del (n.757-36_757-33del)
n.3503-36_3503-33del
c.3322-36_3322-33del (n.3322-36_3322-33del)
c.3316-36_3316-33del (n.3316-36_3316-33del)
c.1720-36_1720-33del (n.1720-36_1720-33del)
n.3529-36_3529-33del
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.102946991_102946992delinsAGCA1185258833COL11A1c.3169-36_3169-35delinsCT (n.3169-36_3169-35delinsCT)
c.3052-36_3052-35delinsCT (n.3052-36_3052-35delinsCT)
c.3205-36_3205-35delinsCT (n.3205-36_3205-35delinsCT)
c.2821-36_2821-35delinsCT (n.2821-36_2821-35delinsCT)
c.2503-36_2503-35delinsCT
c.1402-36_1402-35delinsCT (n.1402-36_1402-35delinsCT)
c.757-36_757-35delinsCT (n.757-36_757-35delinsCT)
n.3503-36_3503-35delinsCT
c.3322-36_3322-35delinsCT (n.3322-36_3322-35delinsCT)
c.3316-36_3316-35delinsCT (n.3316-36_3316-35delinsCT)
c.1720-36_1720-35delinsCT (n.1720-36_1720-35delinsCT)
n.3529-36_3529-35delinsCT
1g.102946992delCA524894228COL11A1c.3169-36del (n.3169-36del)
c.3052-36del (n.3052-36del)
c.3205-36del (n.3205-36del)
c.2821-36del (n.2821-36del)
c.2503-36del
c.1402-36del (n.1402-36del)
c.757-36del (n.757-36del)
n.3503-36del
c.3322-36del (n.3322-36del)
c.3316-36del (n.3316-36del)
c.1720-36del (n.1720-36del)
n.3529-36del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.102946992G>CCA1185258836COL11A1c.3169-36C>G (n.3169-36C>G)
c.3052-36C>G (n.3052-36C>G)
c.3205-36C>G (n.3205-36C>G)
c.2821-36C>G (n.2821-36C>G)
c.2503-36C>G
c.1402-36C>G (n.1402-36C>G)
c.757-36C>G (n.757-36C>G)
n.3503-36C>G
c.3322-36C>G (n.3322-36C>G)
c.3316-36C>G (n.3316-36C>G)
c.1720-36C>G (n.1720-36C>G)
n.3529-36C>G
 dbSNP gnomAD v4
1g.102946992G=CA1185258835COL11A1c.3169-36C= (n.3169-36C=)
c.3052-36C= (n.3052-36C=)
c.3205-36C= (n.3205-36C=)
c.2821-36C= (n.2821-36C=)
c.2503-36C=
c.1402-36C= (n.1402-36C=)
c.757-36C= (n.757-36C=)
n.3503-36C=
c.3322-36C= (n.3322-36C=)
c.3316-36C= (n.3316-36C=)
c.1720-36C= (n.1720-36C=)
n.3529-36C=
1g.102946992G>TCA974113COL11A1c.3169-36C>A (n.3169-36C>A)
c.3052-36C>A (n.3052-36C>A)
c.3205-36C>A (n.3205-36C>A)
c.2821-36C>A (n.2821-36C>A)
c.2503-36C>A
c.1402-36C>A (n.1402-36C>A)
c.757-36C>A (n.757-36C>A)
n.3503-36C>A
c.3322-36C>A (n.3322-36C>A)
c.3316-36C>A (n.3316-36C>A)
c.1720-36C>A (n.1720-36C>A)
n.3529-36C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102946993A=CA1185258839COL11A1c.3169-37T= (n.3169-37T=)
c.3052-37T= (n.3052-37T=)
c.3205-37T= (n.3205-37T=)
c.2821-37T= (n.2821-37T=)
c.2503-37T=
c.1402-37T= (n.1402-37T=)
c.757-37T= (n.757-37T=)
n.3503-37T=
c.3322-37T= (n.3322-37T=)
c.3316-37T= (n.3316-37T=)
c.1720-37T= (n.1720-37T=)
n.3529-37T=
1g.102946993A>GCA524894229COL11A1c.3169-37T>C (n.3169-37T>C)
c.3052-37T>C (n.3052-37T>C)
c.3205-37T>C (n.3205-37T>C)
c.2821-37T>C (n.2821-37T>C)
c.2503-37T>C
c.1402-37T>C (n.1402-37T>C)
c.757-37T>C (n.757-37T>C)
n.3503-37T>C
c.3322-37T>C (n.3322-37T>C)
c.3316-37T>C (n.3316-37T>C)
c.1720-37T>C (n.1720-37T>C)
n.3529-37T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.102946994A>CCA2646803750COL11A1c.3169-38T>G (n.3169-38T>G)
c.3052-38T>G (n.3052-38T>G)
c.3205-38T>G (n.3205-38T>G)
c.2821-38T>G (n.2821-38T>G)
c.2503-38T>G
c.1402-38T>G (n.1402-38T>G)
c.757-38T>G (n.757-38T>G)
n.3503-38T>G
c.3322-38T>G (n.3322-38T>G)
c.3316-38T>G (n.3316-38T>G)
c.1720-38T>G (n.1720-38T>G)
n.3529-38T>G
 gnomAD v4
1g.102946995A=CA1185258840COL11A1c.3169-39T= (n.3169-39T=)
c.3052-39T= (n.3052-39T=)
c.3205-39T= (n.3205-39T=)
c.2821-39T= (n.2821-39T=)
c.2503-39T=
c.1402-39T= (n.1402-39T=)
c.757-39T= (n.757-39T=)
n.3503-39T=
c.3322-39T= (n.3322-39T=)
c.3316-39T= (n.3316-39T=)
c.1720-39T= (n.1720-39T=)
n.3529-39T=
1g.102946995A>TCA1185258842COL11A1c.3169-39T>A (n.3169-39T>A)
c.3052-39T>A (n.3052-39T>A)
c.3205-39T>A (n.3205-39T>A)
c.2821-39T>A (n.2821-39T>A)
c.2503-39T>A
c.1402-39T>A (n.1402-39T>A)
c.757-39T>A (n.757-39T>A)
n.3503-39T>A
c.3322-39T>A (n.3322-39T>A)
c.3316-39T>A (n.3316-39T>A)
c.1720-39T>A (n.1720-39T>A)
n.3529-39T>A
 dbSNP gnomAD v4
1g.102946996G>TCA2574449527COL11A1c.3169-40C>A (n.3169-40C>A)
c.3052-40C>A (n.3052-40C>A)
c.3205-40C>A (n.3205-40C>A)
c.2821-40C>A (n.2821-40C>A)
c.2503-40C>A
c.1402-40C>A (n.1402-40C>A)
c.757-40C>A (n.757-40C>A)
n.3503-40C>A
c.3322-40C>A (n.3322-40C>A)
c.3316-40C>A (n.3316-40C>A)
c.1720-40C>A (n.1720-40C>A)
n.3529-40C>A

Number of alleles fetched