Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.45505192_45505243delCA2392191226COL18A1,SLC19A1c.3467_3518del (p.Pro1156GlnfsTer?)
c.2927_2978del (p.Pro976GlnfsTer?)
c.968_1019del (p.Pro323GlnfsTer?)
c.4172_4223del (p.Pro1391GlnfsTer?)
c.498-6627_498-6576del
c.1294-6627_1294-6576del (n.1294-6627_1294-6576del)
c.3458_3509del (p.Pro1153GlnfsTer?)
c.4163_4214del (p.Pro1388GlnfsTer?)
c.2918_2969del (p.Pro973GlnfsTer?)
c.1585-2270_1585-2219del (n.1585-2270_1585-2219del)
 ClinVar dbSNP gnomAD v4
21g.45505192_45505252delCA2580098853COL18A1,SLC19A1c.3467_3527del (p.Pro1156LeufsTer?)
c.2927_2987del (p.Pro976LeufsTer?)
c.968_1028del (p.Pro323LeufsTer?)
c.4172_4232del (p.Pro1391LeufsTer?)
c.498-6636_498-6576del
c.1294-6636_1294-6576del (n.1294-6636_1294-6576del)
c.3458_3518del (p.Pro1153LeufsTer?)
c.4163_4223del (p.Pro1388LeufsTer?)
c.2918_2978del (p.Pro973LeufsTer?)
c.1585-2279_1585-2219del (n.1585-2279_1585-2219del)
 ClinVar
21g.45505223_45505250dupCA2580098856COL18A1,SLC19A1c.3498_3525dup (p.Pro1176SerfsTer?)
c.2958_2985dup (p.Pro996SerfsTer?)
c.999_1026dup (p.Pro343SerfsTer?)
c.4203_4230dup (p.Pro1411SerfsTer?)
c.498-6629_498-6602dup
c.1294-6629_1294-6602dup (n.1294-6629_1294-6602dup)
c.3489_3516dup (p.Pro1173SerfsTer?)
c.4194_4221dup (p.Pro1408SerfsTer?)
c.2949_2976dup (p.Pro993SerfsTer?)
c.1585-2272_1585-2245dup (n.1585-2272_1585-2245dup)
 ClinVar
21g.45505223_45505250delCA638497268COL18A1,SLC19A1c.3498_3525del (p.Pro1167LeufsTer?)
c.2958_2985del (p.Pro987LeufsTer?)
c.999_1026del (p.Pro334LeufsTer?)
c.4203_4230del (p.Pro1402LeufsTer?)
c.498-6629_498-6602del
c.1294-6629_1294-6602del (n.1294-6629_1294-6602del)
c.3489_3516del (p.Pro1164LeufsTer?)
c.4194_4221del (p.Pro1399LeufsTer?)
c.2949_2976del (p.Pro984LeufsTer?)
c.1585-2272_1585-2245del (n.1585-2272_1585-2245del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.45505226_45505243dupCA638497270COL18A1,SLC19A1c.3501_3518dup (p.Pro1173_Gly1174insGlyProProGlyProPro)
c.2961_2978dup (p.Pro993_Gly994insGlyProProGlyProPro)
c.1002_1019dup (p.Pro340_Gly341insGlyProProGlyProPro)
c.4206_4223dup (p.Pro1408_Gly1409insGlyProProGlyProPro)
c.498-6629_498-6612dup
c.1294-6629_1294-6612dup (n.1294-6629_1294-6612dup)
c.3492_3509dup (p.Pro1170_Gly1171insGlyProProGlyProPro)
c.4197_4214dup (p.Pro1405_Gly1406insGlyProProGlyProPro)
c.2952_2969dup (p.Pro990_Gly991insGlyProProGlyProPro)
c.1585-2272_1585-2255dup (n.1585-2272_1585-2255dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45505225_45505252delCA2580098859COL18A1,SLC19A1c.3500_3527del (p.Pro1167LeufsTer?)
c.2960_2987del (p.Pro987LeufsTer?)
c.1001_1028del (p.Pro334LeufsTer?)
c.4205_4232del (p.Pro1402LeufsTer?)
c.498-6639_498-6612del
c.1294-6639_1294-6612del (n.1294-6639_1294-6612del)
c.3491_3518del (p.Pro1164LeufsTer?)
c.4196_4223del (p.Pro1399LeufsTer?)
c.2951_2978del (p.Pro984LeufsTer?)
c.1585-2282_1585-2255del (n.1585-2282_1585-2255del)
 ClinVar
21g.45505238_45505246dupCA10067576COL18A1,SLC19A1c.3513_3521dup (p.Gly1174_Pro1175insProProGly)
c.2973_2981dup (p.Gly994_Pro995insProProGly)
c.1014_1022dup (p.Gly341_Pro342insProProGly)
c.4218_4226dup (p.Gly1409_Pro1410insProProGly)
c.498-6623_498-6615dup
c.1294-6623_1294-6615dup (n.1294-6623_1294-6615dup)
c.3504_3512dup (p.Gly1171_Pro1172insProProGly)
c.4209_4217dup (p.Gly1406_Pro1407insProProGly)
c.2964_2972dup (p.Gly991_Pro992insProProGly)
c.1585-2266_1585-2258dup (n.1585-2266_1585-2258dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505238_45505246delCA10067577COL18A1,SLC19A1c.3513_3521del (p.Pro1172_Gly1174del)
c.2973_2981del (p.Pro992_Gly994del)
c.1014_1022del (p.Pro339_Gly341del)
c.4218_4226del (p.Pro1407_Gly1409del)
c.498-6623_498-6615del
c.1294-6623_1294-6615del (n.1294-6623_1294-6615del)
c.3504_3512del (p.Pro1169_Gly1171del)
c.4209_4217del (p.Pro1404_Gly1406del)
c.2964_2972del (p.Pro989_Gly991del)
c.1585-2266_1585-2258del (n.1585-2266_1585-2258del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
21g.45505234_45505243dupCA2392191267COL18A1,SLC19A1c.3509_3518dup (p.Gly1174ArgfsTer?)
c.2969_2978dup (p.Gly994ArgfsTer?)
c.1010_1019dup (p.Gly341ArgfsTer?)
c.4214_4223dup (p.Gly1409ArgfsTer?)
c.498-6626_498-6617dup
c.1294-6626_1294-6617dup (n.1294-6626_1294-6617dup)
c.3500_3509dup (p.Gly1171ArgfsTer?)
c.4205_4214dup (p.Gly1406ArgfsTer?)
c.2960_2969dup (p.Gly991ArgfsTer?)
c.1585-2269_1585-2260dup (n.1585-2269_1585-2260dup)
 ClinVar dbSNP gnomAD v4
21g.45505229_45505247delinsCCCCCCAGGCCCCCCAGGGCA2392191266COL18A1,SLC19A1c.3504_3522delinsCCCCCCAGGCCCCCCAGGG (p.Gly1168=)
c.2964_2982delinsCCCCCCAGGCCCCCCAGGG (p.Gly988=)
c.1005_1023delinsCCCCCCAGGCCCCCCAGGG (p.Gly335=)
c.4209_4227delinsCCCCCCAGGCCCCCCAGGG (p.Gly1403=)
c.498-6635_498-6617delinsCCCTGGGGGGCCTGGGGGG
c.1294-6635_1294-6617delinsCCCTGGGGGGCCTGGGGGG (n.1294-6635_1294-6617delinsCCCTGGGGGGCCTGGGGGG)
c.3495_3513delinsCCCCCCAGGCCCCCCAGGG (p.Gly1165=)
c.4200_4218delinsCCCCCCAGGCCCCCCAGGG (p.Gly1400=)
c.2955_2973delinsCCCCCCAGGCCCCCCAGGG (p.Gly985=)
c.1585-2278_1585-2260delinsCCCTGGGGGGCCTGGGGGG (n.1585-2278_1585-2260delinsCCCTGGGGGGCCTGGGGGG)
21g.45505235_45505252dupCA321921471COL18A1,SLC19A1c.3510_3527dup (p.Pro1176_Ser1177insGlyProProGlyProPro)
c.2970_2987dup (p.Pro996_Ser997insGlyProProGlyProPro)
c.1011_1028dup (p.Pro343_Ser344insGlyProProGlyProPro)
c.4215_4232dup (p.Pro1411_Ser1412insGlyProProGlyProPro)
c.498-6635_498-6618dup
c.1294-6635_1294-6618dup (n.1294-6635_1294-6618dup)
c.3501_3518dup (p.Pro1173_Ser1174insGlyProProGlyProPro)
c.4206_4223dup (p.Pro1408_Ser1409insGlyProProGlyProPro)
c.2961_2978dup (p.Pro993_Ser994insGlyProProGlyProPro)
c.1585-2278_1585-2261dup (n.1585-2278_1585-2261dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45505235_45505252delCA10067579COL18A1,SLC19A1c.3510_3527del (p.Gly1171_Pro1176del)
c.2970_2987del (p.Gly991_Pro996del)
c.1011_1028del (p.Gly338_Pro343del)
c.4215_4232del (p.Gly1406_Pro1411del)
c.498-6635_498-6618del
c.1294-6635_1294-6618del (n.1294-6635_1294-6618del)
c.3501_3518del (p.Gly1168_Pro1173del)
c.4206_4223del (p.Gly1403_Pro1408del)
c.2961_2978del (p.Gly988_Pro993del)
c.1585-2278_1585-2261del (n.1585-2278_1585-2261del)
 dbSNP ExAC
21g.45505235_45505245delinsAGGCCCCCCAGCA2392191273COL18A1,SLC19A1c.3510_3520delinsAGGCCCCCCAG (p.Pro1170=)
c.2970_2980delinsAGGCCCCCCAG (p.Pro990=)
c.1011_1021delinsAGGCCCCCCAG (p.Pro337=)
c.4215_4225delinsAGGCCCCCCAG (p.Pro1405=)
c.498-6633_498-6623delinsCTGGGGGGCCT
c.1294-6633_1294-6623delinsCTGGGGGGCCT (n.1294-6633_1294-6623delinsCTGGGGGGCCT)
c.3501_3511delinsAGGCCCCCCAG (p.Pro1167=)
c.4206_4216delinsAGGCCCCCCAG (p.Pro1402=)
c.2961_2971delinsAGGCCCCCCAG (p.Pro987=)
c.1585-2276_1585-2266delinsCTGGGGGGCCT (n.1585-2276_1585-2266delinsCTGGGGGGCCT)
21g.45505243_45505244insCGGCCCCCCCA10067581COL18A1,SLC19A1c.3518_3519insCGGCCCCCC (p.Pro1173_Gly1174insGlyProPro)
c.2978_2979insCGGCCCCCC (p.Pro993_Gly994insGlyProPro)
c.1019_1020insCGGCCCCCC (p.Pro340_Gly341insGlyProPro)
c.4223_4224insCGGCCCCCC (p.Pro1408_Gly1409insGlyProPro)
c.498-6624_498-6623insGGGGGGGCC
c.1294-6624_1294-6623insGGGGGGGCC (n.1294-6624_1294-6623insGGGGGGGCC)
c.3509_3510insCGGCCCCCC (p.Pro1170_Gly1171insGlyProPro)
c.4214_4215insCGGCCCCCC (p.Pro1405_Gly1406insGlyProPro)
c.2969_2970insCGGCCCCCC (p.Pro990_Gly991insGlyProPro)
c.1585-2267_1585-2266insGGGGGGGCC (n.1585-2267_1585-2266insGGGGGGGCC)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
21g.45505243_45505244insCCGGCCCCCCCA2654919416COL18A1,SLC19A1c.3518_3519insCCGGCCCCCC (p.Gly1174ArgfsTer?)
c.2978_2979insCCGGCCCCCC (p.Gly994ArgfsTer?)
c.1019_1020insCCGGCCCCCC (p.Gly341ArgfsTer?)
c.4223_4224insCCGGCCCCCC (p.Gly1409ArgfsTer?)
c.498-6624_498-6623insGGGGGGGGCC
c.1294-6624_1294-6623insGGGGGGGGCC (n.1294-6624_1294-6623insGGGGGGGGCC)
c.3509_3510insCCGGCCCCCC (p.Gly1171ArgfsTer?)
c.4214_4215insCCGGCCCCCC (p.Gly1406ArgfsTer?)
c.2969_2970insCCGGCCCCCC (p.Gly991ArgfsTer?)
c.1585-2267_1585-2266insGGGGGGGGCC (n.1585-2267_1585-2266insGGGGGGGGCC)
 gnomAD v4
21g.45505236_45505243dupCA10067583COL18A1,SLC19A1c.3511_3518dup (p.Gly1174AlafsTer?)
c.2971_2978dup (p.Gly994AlafsTer?)
c.1012_1019dup (p.Gly341AlafsTer?)
c.4216_4223dup (p.Gly1409AlafsTer?)
c.498-6631_498-6624dup
c.1294-6631_1294-6624dup (n.1294-6631_1294-6624dup)
c.3502_3509dup (p.Gly1171AlafsTer?)
c.4207_4214dup (p.Gly1406AlafsTer?)
c.2962_2969dup (p.Gly991AlafsTer?)
c.1585-2274_1585-2267dup (n.1585-2274_1585-2267dup)
 dbSNP ExAC gnomAD v4
21g.45505243_45505252dupCA10067584COL18A1,SLC19A1c.3518_3527dup (p.Ser1177ArgfsTer?)
c.2978_2987dup (p.Ser997ArgfsTer?)
c.1019_1028dup (p.Ser344ArgfsTer?)
c.4223_4232dup (p.Ser1412ArgfsTer?)
c.498-6633_498-6624dup
c.1294-6633_1294-6624dup (n.1294-6633_1294-6624dup)
c.3509_3518dup (p.Ser1174ArgfsTer?)
c.4214_4223dup (p.Ser1409ArgfsTer?)
c.2969_2978dup (p.Ser994ArgfsTer?)
c.1585-2276_1585-2267dup (n.1585-2276_1585-2267dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505243_45505252delCA10067585COL18A1,SLC19A1c.3518_3527del (p.Pro1173LeufsTer?)
c.2978_2987del (p.Pro993LeufsTer?)
c.1019_1028del (p.Pro340LeufsTer?)
c.4223_4232del (p.Pro1408LeufsTer?)
c.498-6633_498-6624del
c.1294-6633_1294-6624del (n.1294-6633_1294-6624del)
c.3509_3518del (p.Pro1170LeufsTer?)
c.4214_4223del (p.Pro1405LeufsTer?)
c.2969_2978del (p.Pro990LeufsTer?)
c.1585-2276_1585-2267del (n.1585-2276_1585-2267del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45505243_45505244insCCGCCCCCCCA2577627003COL18A1,SLC19A1c.3518_3519insCCGCCCCCC (p.Pro1173_Gly1174insArgProPro)
c.2978_2979insCCGCCCCCC (p.Pro993_Gly994insArgProPro)
c.1019_1020insCCGCCCCCC (p.Pro340_Gly341insArgProPro)
c.4223_4224insCCGCCCCCC (p.Pro1408_Gly1409insArgProPro)
c.498-6625_498-6624insGGGGGGGGC
c.1294-6625_1294-6624insGGGGGGGGC (n.1294-6625_1294-6624insGGGGGGGGC)
c.3509_3510insCCGCCCCCC (p.Pro1170_Gly1171insArgProPro)
c.4214_4215insCCGCCCCCC (p.Pro1405_Gly1406insArgProPro)
c.2969_2970insCCGCCCCCC (p.Pro990_Gly991insArgProPro)
c.1585-2268_1585-2267insGGGGGGGGC (n.1585-2268_1585-2267insGGGGGGGGC)
 gnomAD v4
21g.45505243_45505244insCGGCCCCCCCCA2577627008COL18A1,SLC19A1c.3518_3519insCGGCCCCCCC (p.Ser1177ArgfsTer?)
c.2978_2979insCGGCCCCCCC (p.Ser997ArgfsTer?)
c.1019_1020insCGGCCCCCCC (p.Ser344ArgfsTer?)
c.4223_4224insCGGCCCCCCC (p.Ser1412ArgfsTer?)
c.498-6626_498-6625insGCCGGGGGGG
c.1294-6626_1294-6625insGCCGGGGGGG (n.1294-6626_1294-6625insGCCGGGGGGG)
c.3509_3510insCGGCCCCCCC (p.Ser1174ArgfsTer?)
c.4214_4215insCGGCCCCCCC (p.Ser1409ArgfsTer?)
c.2969_2970insCGGCCCCCCC (p.Ser994ArgfsTer?)
c.1585-2269_1585-2268insGCCGGGGGGG (n.1585-2269_1585-2268insGCCGGGGGGG)
21g.45505243dupCA2577627007COL18A1,SLC19A1c.3518dup (p.Gly1174ArgfsTer?)
c.2978dup (p.Gly994ArgfsTer?)
c.1019dup (p.Gly341ArgfsTer?)
c.4223dup (p.Gly1409ArgfsTer?)
c.498-6626dup
c.1294-6626dup (n.1294-6626dup)
c.3509dup (p.Gly1171ArgfsTer?)
c.4214dup (p.Gly1406ArgfsTer?)
c.2969dup (p.Gly991ArgfsTer?)
c.1585-2269dup (n.1585-2269dup)
 ClinVar gnomAD v4
21g.45505243delCA512687274COL18A1,SLC19A1c.3518del (p.Pro1173GlnfsTer?)
c.2978del (p.Pro993GlnfsTer?)
c.1019del (p.Pro340GlnfsTer?)
c.4223del (p.Pro1408GlnfsTer?)
c.498-6626del
c.1294-6626del (n.1294-6626del)
c.3509del (p.Pro1170GlnfsTer?)
c.4214del (p.Pro1405GlnfsTer?)
c.2969del (p.Pro990GlnfsTer?)
c.1585-2269del (n.1585-2269del)
 gnomAD v4 COSMIC COSMIC COSMIC
21g.45505238_45505247delinsCCCCCCAGGGCA2392191278COL18A1,SLC19A1c.3513_3522delinsCCCCCCAGGG (p.Gly1171=)
c.2973_2982delinsCCCCCCAGGG (p.Gly991=)
c.1014_1023delinsCCCCCCAGGG (p.Gly338=)
c.4218_4227delinsCCCCCCAGGG (p.Gly1406=)
c.498-6635_498-6626delinsCCCTGGGGGG
c.1294-6635_1294-6626delinsCCCTGGGGGG (n.1294-6635_1294-6626delinsCCCTGGGGGG)
c.3504_3513delinsCCCCCCAGGG (p.Gly1168=)
c.4209_4218delinsCCCCCCAGGG (p.Gly1403=)
c.2964_2973delinsCCCCCCAGGG (p.Gly988=)
c.1585-2278_1585-2269delinsCCCTGGGGGG (n.1585-2278_1585-2269delinsCCCTGGGGGG)
21g.45505243_45505244insCGGGCCCCCCA2654919426COL18A1,SLC19A1c.3518_3519insCGGGCCCCC (p.Pro1173_Gly1174insGlyProPro)
c.2978_2979insCGGGCCCCC (p.Pro993_Gly994insGlyProPro)
c.1019_1020insCGGGCCCCC (p.Pro340_Gly341insGlyProPro)
c.4223_4224insCGGGCCCCC (p.Pro1408_Gly1409insGlyProPro)
c.498-6627_498-6626insCCCGGGGGG
c.1294-6627_1294-6626insCCCGGGGGG (n.1294-6627_1294-6626insCCCGGGGGG)
c.3509_3510insCGGGCCCCC (p.Pro1170_Gly1171insGlyProPro)
c.4214_4215insCGGGCCCCC (p.Pro1405_Gly1406insGlyProPro)
c.2969_2970insCGGGCCCCC (p.Pro990_Gly991insGlyProPro)
c.1585-2270_1585-2269insCCCGGGGGG (n.1585-2270_1585-2269insCCCGGGGGG)
 gnomAD v4
21g.45505243_45505244insCGGCCCCCCAGGGCCCCCCA749788282COL18A1,SLC19A1c.3518_3519insCGGCCCCCCAGGGCCCCC (p.Pro1173_Gly1174insGlyProProGlyProPro)
c.2978_2979insCGGCCCCCCAGGGCCCCC (p.Pro993_Gly994insGlyProProGlyProPro)
c.1019_1020insCGGCCCCCCAGGGCCCCC (p.Pro340_Gly341insGlyProProGlyProPro)
c.4223_4224insCGGCCCCCCAGGGCCCCC (p.Pro1408_Gly1409insGlyProProGlyProPro)
c.498-6627_498-6626insCCCTGGGGGGCCGGGGGG
c.1294-6627_1294-6626insCCCTGGGGGGCCGGGGGG (n.1294-6627_1294-6626insCCCTGGGGGGCCGGGGGG)
c.3509_3510insCGGCCCCCCAGGGCCCCC (p.Pro1170_Gly1171insGlyProProGlyProPro)
c.4214_4215insCGGCCCCCCAGGGCCCCC (p.Pro1405_Gly1406insGlyProProGlyProPro)
c.2969_2970insCGGCCCCCCAGGGCCCCC (p.Pro990_Gly991insGlyProProGlyProPro)
c.1585-2270_1585-2269insCCCTGGGGGGCCGGGGGG (n.1585-2270_1585-2269insCCCTGGGGGGCCGGGGGG)
 dbSNP
21g.45505246_45505247insCCCCCCAGGGCCCCCAGGCA2818080268COL18A1,SLC19A1c.3521_3522insCCCCCCAGGGCCCCCAGG (p.Gly1174_Pro1175insProProGlyProProGly)
c.2981_2982insCCCCCCAGGGCCCCCAGG (p.Gly994_Pro995insProProGlyProProGly)
c.1022_1023insCCCCCCAGGGCCCCCAGG (p.Gly341_Pro342insProProGlyProProGly)
c.4226_4227insCCCCCCAGGGCCCCCAGG (p.Gly1409_Pro1410insProProGlyProProGly)
c.498-6627_498-6626insCCCTGGGGGGCCTGGGGG
c.1294-6627_1294-6626insCCCTGGGGGGCCTGGGGG (n.1294-6627_1294-6626insCCCTGGGGGGCCTGGGGG)
c.3512_3513insCCCCCCAGGGCCCCCAGG (p.Gly1171_Pro1172insProProGlyProProGly)
c.4217_4218insCCCCCCAGGGCCCCCAGG (p.Gly1406_Pro1407insProProGlyProProGly)
c.2972_2973insCCCCCCAGGGCCCCCAGG (p.Gly991_Pro992insProProGlyProProGly)
c.1585-2270_1585-2269insCCCTGGGGGGCCTGGGGG (n.1585-2270_1585-2269insCCCTGGGGGGCCTGGGGG)
21g.45505244_45505252dupCA10067589COL18A1,SLC19A1c.3519_3527dup (p.Pro1176_Ser1177insGlyProPro)
c.2979_2987dup (p.Pro996_Ser997insGlyProPro)
c.1020_1028dup (p.Pro343_Ser344insGlyProPro)
c.4224_4232dup (p.Pro1411_Ser1412insGlyProPro)
c.498-6635_498-6627dup
c.1294-6635_1294-6627dup (n.1294-6635_1294-6627dup)
c.3510_3518dup (p.Pro1173_Ser1174insGlyProPro)
c.4215_4223dup (p.Pro1408_Ser1409insGlyProPro)
c.2970_2978dup (p.Pro993_Ser994insGlyProPro)
c.1585-2278_1585-2270dup (n.1585-2278_1585-2270dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505244_45505252delCA10067586COL18A1,SLC19A1c.3519_3527del (p.Gly1174_Pro1176del)
c.2979_2987del (p.Gly994_Pro996del)
c.1020_1028del (p.Gly341_Pro343del)
c.4224_4232del (p.Gly1409_Pro1411del)
c.498-6635_498-6627del
c.1294-6635_1294-6627del (n.1294-6635_1294-6627del)
c.3510_3518del (p.Gly1171_Pro1173del)
c.4215_4223del (p.Gly1406_Pro1408del)
c.2970_2978del (p.Gly991_Pro993del)
c.1585-2278_1585-2270del (n.1585-2278_1585-2270del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.45505243_45505244insCGGCCACCCCA2737719436COL18A1,SLC19A1c.3518_3519insCGGCCACCC (p.Pro1173_Gly1174insGlyHisPro)
c.2978_2979insCGGCCACCC (p.Pro993_Gly994insGlyHisPro)
c.1019_1020insCGGCCACCC (p.Pro340_Gly341insGlyHisPro)
c.4223_4224insCGGCCACCC (p.Pro1408_Gly1409insGlyHisPro)
c.498-6629_498-6628insTGGCCGGGG
c.1294-6629_1294-6628insTGGCCGGGG (n.1294-6629_1294-6628insTGGCCGGGG)
c.3509_3510insCGGCCACCC (p.Pro1170_Gly1171insGlyHisPro)
c.4214_4215insCGGCCACCC (p.Pro1405_Gly1406insGlyHisPro)
c.2969_2970insCGGCCACCC (p.Pro990_Gly991insGlyHisPro)
c.1585-2272_1585-2271insTGGCCGGGG (n.1585-2272_1585-2271insTGGCCGGGG)
 dbSNP
21g.45505243C>ACA410499582COL18A1,SLC19A1c.3518C>A (p.Pro1173Gln)
c.2978C>A (p.Pro993Gln)
c.1019C>A (p.Pro340Gln)
c.4223C>A (p.Pro1408Gln)
c.498-6631G>T
c.1294-6631G>T (n.1294-6631G>T)
c.3509C>A (p.Pro1170Gln)
c.4214C>A (p.Pro1405Gln)
c.2969C>A (p.Pro990Gln)
c.1585-2274G>T (n.1585-2274G>T)
21g.45505243C>GCA410499583COL18A1,SLC19A1c.3518C>G (p.Pro1173Arg)
c.2978C>G (p.Pro993Arg)
c.1019C>G (p.Pro340Arg)
c.4223C>G (p.Pro1408Arg)
c.498-6631G>C
c.1294-6631G>C (n.1294-6631G>C)
c.3509C>G (p.Pro1170Arg)
c.4214C>G (p.Pro1405Arg)
c.2969C>G (p.Pro990Arg)
c.1585-2274G>C (n.1585-2274G>C)
 ClinVar
21g.45505243C>TCA410499584COL18A1,SLC19A1c.3518C>T (p.Pro1173Leu)
c.2978C>T (p.Pro993Leu)
c.1019C>T (p.Pro340Leu)
c.4223C>T (p.Pro1408Leu)
c.498-6631G>A
c.1294-6631G>A (n.1294-6631G>A)
c.3509C>T (p.Pro1170Leu)
c.4214C>T (p.Pro1405Leu)
c.2969C>T (p.Pro990Leu)
c.1585-2274G>A (n.1585-2274G>A)
21g.45505243_45505244delinsCACA2392191283COL18A1,SLC19A1c.3518_3519delinsCA (p.Pro1173=)
c.2978_2979delinsCA (p.Pro993=)
c.1019_1020delinsCA (p.Pro340=)
c.4223_4224delinsCA (p.Pro1408=)
c.498-6632_498-6631delinsTG
c.1294-6632_1294-6631delinsTG (n.1294-6632_1294-6631delinsTG)
c.3509_3510delinsCA (p.Pro1170=)
c.4214_4215delinsCA (p.Pro1405=)
c.2969_2970delinsCA (p.Pro990=)
c.1585-2275_1585-2274delinsTG (n.1585-2275_1585-2274delinsTG)
21g.45505243_45505245delinsCAGCA2392191282COL18A1,SLC19A1c.3518_3520delinsCAG (p.Pro1173=)
c.2978_2980delinsCAG (p.Pro993=)
c.1019_1021delinsCAG (p.Pro340=)
c.4223_4225delinsCAG (p.Pro1408=)
c.498-6633_498-6631delinsCTG
c.1294-6633_1294-6631delinsCTG (n.1294-6633_1294-6631delinsCTG)
c.3509_3511delinsCAG (p.Pro1170=)
c.4214_4216delinsCAG (p.Pro1405=)
c.2969_2971delinsCAG (p.Pro990=)
c.1585-2276_1585-2274delinsCTG (n.1585-2276_1585-2274delinsCTG)
21g.45505244delCA638497276COL18A1,SLC19A1c.3519del (p.Pro1176LeufsTer?)
c.2979del (p.Pro996LeufsTer?)
c.1020del (p.Pro343LeufsTer?)
c.4224del (p.Pro1411LeufsTer?)
c.498-6632del
c.1294-6632del (n.1294-6632del)
c.3510del (p.Pro1173LeufsTer?)
c.4215del (p.Pro1408LeufsTer?)
c.2970del (p.Pro993LeufsTer?)
c.1585-2275del (n.1585-2275del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45505244A=CA2392191284COL18A1,SLC19A1c.3519A= (p.Pro1173=)
c.2979A= (p.Pro993=)
c.1020A= (p.Pro340=)
c.4224A= (p.Pro1408=)
c.498-6632T=
c.1294-6632T= (n.1294-6632T=)
c.3510A= (p.Pro1170=)
c.4215A= (p.Pro1405=)
c.2970A= (p.Pro990=)
c.1585-2275T= (n.1585-2275T=)
21g.45505244A>CCA10067593COL18A1,SLC19A1c.3519A>C (p.Pro1173=)
c.2979A>C (p.Pro993=)
c.1020A>C (p.Pro340=)
c.4224A>C (p.Pro1408=)
c.498-6632T>G
c.1294-6632T>G (n.1294-6632T>G)
c.3510A>C (p.Pro1170=)
c.4215A>C (p.Pro1405=)
c.2970A>C (p.Pro990=)
c.1585-2275T>G (n.1585-2275T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505244A>GCA512687276COL18A1,SLC19A1c.3519A>G (p.Pro1173=)
c.2979A>G (p.Pro993=)
c.1020A>G (p.Pro340=)
c.4224A>G (p.Pro1408=)
c.498-6632T>C
c.1294-6632T>C (n.1294-6632T>C)
c.3510A>G (p.Pro1170=)
c.4215A>G (p.Pro1405=)
c.2970A>G (p.Pro990=)
c.1585-2275T>C (n.1585-2275T>C)
21g.45505244A>TCA512687277COL18A1,SLC19A1c.3519A>T (p.Pro1173=)
c.2979A>T (p.Pro993=)
c.1020A>T (p.Pro340=)
c.4224A>T (p.Pro1408=)
c.498-6632T>A
c.1294-6632T>A (n.1294-6632T>A)
c.3510A>T (p.Pro1170=)
c.4215A>T (p.Pro1405=)
c.2970A>T (p.Pro990=)
c.1585-2275T>A (n.1585-2275T>A)
 gnomAD v4
21g.45505244dupCA2654919428COL18A1,SLC19A1c.3519dup (p.Gly1174ArgfsTer?)
c.2979dup (p.Gly994ArgfsTer?)
c.1020dup (p.Gly341ArgfsTer?)
c.4224dup (p.Gly1409ArgfsTer?)
c.498-6632dup
c.1294-6632dup (n.1294-6632dup)
c.3510dup (p.Gly1171ArgfsTer?)
c.4215dup (p.Gly1406ArgfsTer?)
c.2970dup (p.Gly991ArgfsTer?)
c.1585-2275dup (n.1585-2275dup)
 gnomAD v4
21g.45505244_45505245delinsCCA10603556COL18A1,SLC19A1c.3519_3520delinsC (p.Pro1176LeufsTer?)
c.2979_2980delinsC (p.Pro996LeufsTer?)
c.1020_1021delinsC (p.Pro343LeufsTer?)
c.4224_4225delinsC (p.Pro1411LeufsTer?)
c.498-6633_498-6632delinsG
c.1294-6633_1294-6632delinsG (n.1294-6633_1294-6632delinsG)
c.3510_3511delinsC (p.Pro1173LeufsTer?)
c.4215_4216delinsC (p.Pro1408LeufsTer?)
c.2970_2971delinsC (p.Pro993LeufsTer?)
c.1585-2276_1585-2275delinsG (n.1585-2276_1585-2275delinsG)
 ClinVar dbSNP
21g.45505244_45505253dupCA2573157802COL18A1,SLC19A1c.3519_3528dup (p.Ser1177ArgfsTer?)
c.2979_2988dup (p.Ser997ArgfsTer?)
c.1020_1029dup (p.Ser344ArgfsTer?)
c.4224_4233dup (p.Ser1412ArgfsTer?)
c.498-6641_498-6632dup
c.1294-6641_1294-6632dup (n.1294-6641_1294-6632dup)
c.3510_3519dup (p.Ser1174ArgfsTer?)
c.4215_4224dup (p.Ser1409ArgfsTer?)
c.2970_2979dup (p.Ser994ArgfsTer?)
c.1585-2284_1585-2275dup (n.1585-2284_1585-2275dup)
 ClinVar dbSNP
21g.45505245G>ACA410499585COL18A1,SLC19A1c.3520G>A (p.Gly1174Arg)
c.2980G>A (p.Gly994Arg)
c.1021G>A (p.Gly341Arg)
c.4225G>A (p.Gly1409Arg)
c.498-6633C>T
c.1294-6633C>T (n.1294-6633C>T)
c.3511G>A (p.Gly1171Arg)
c.4216G>A (p.Gly1406Arg)
c.2971G>A (p.Gly991Arg)
c.1585-2276C>T (n.1585-2276C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45505245G>CCA321921489COL18A1,SLC19A1c.3520G>C (p.Gly1174Arg)
c.2980G>C (p.Gly994Arg)
c.1021G>C (p.Gly341Arg)
c.4225G>C (p.Gly1409Arg)
c.498-6633C>G
c.1294-6633C>G (n.1294-6633C>G)
c.3511G>C (p.Gly1171Arg)
c.4216G>C (p.Gly1406Arg)
c.2971G>C (p.Gly991Arg)
c.1585-2276C>G (n.1585-2276C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45505245G=CA2392191285COL18A1,SLC19A1c.3520G= (p.Gly1174=)
c.2980G= (p.Gly994=)
c.1021G= (p.Gly341=)
c.4225G= (p.Gly1409=)
c.498-6633C=
c.1294-6633C= (n.1294-6633C=)
c.3511G= (p.Gly1171=)
c.4216G= (p.Gly1406=)
c.2971G= (p.Gly991=)
c.1585-2276C= (n.1585-2276C=)
21g.45505245G>TCA410499586COL18A1,SLC19A1c.3520G>T (p.Gly1174Trp)
c.2980G>T (p.Gly994Trp)
c.1021G>T (p.Gly341Trp)
c.4225G>T (p.Gly1409Trp)
c.498-6633C>A
c.1294-6633C>A (n.1294-6633C>A)
c.3511G>T (p.Gly1171Trp)
c.4216G>T (p.Gly1406Trp)
c.2971G>T (p.Gly991Trp)
c.1585-2276C>A (n.1585-2276C>A)
21g.45505247delCA2695230315COL18A1,SLC19A1c.3522del (p.Pro1176LeufsTer?)
c.2982del (p.Pro996LeufsTer?)
c.1023del (p.Pro343LeufsTer?)
c.4227del (p.Pro1411LeufsTer?)
c.498-6633del
c.1294-6633del (n.1294-6633del)
c.3513del (p.Pro1173LeufsTer?)
c.4218del (p.Pro1408LeufsTer?)
c.2973del (p.Pro993LeufsTer?)
c.1585-2276del (n.1585-2276del)
21g.45505246G>ACA410499587COL18A1,SLC19A1c.3521G>A (p.Gly1174Glu)
c.2981G>A (p.Gly994Glu)
c.1022G>A (p.Gly341Glu)
c.4226G>A (p.Gly1409Glu)
c.498-6634C>T
c.1294-6634C>T (n.1294-6634C>T)
c.3512G>A (p.Gly1171Glu)
c.4217G>A (p.Gly1406Glu)
c.2972G>A (p.Gly991Glu)
c.1585-2277C>T (n.1585-2277C>T)
 dbSNP gnomAD v2 gnomAD v4
21g.45505246G>CCA410499588COL18A1,SLC19A1c.3521G>C (p.Gly1174Ala)
c.2981G>C (p.Gly994Ala)
c.1022G>C (p.Gly341Ala)
c.4226G>C (p.Gly1409Ala)
c.498-6634C>G
c.1294-6634C>G (n.1294-6634C>G)
c.3512G>C (p.Gly1171Ala)
c.4217G>C (p.Gly1406Ala)
c.2972G>C (p.Gly991Ala)
c.1585-2277C>G (n.1585-2277C>G)
21g.45505246G=CA2392191286COL18A1,SLC19A1c.3521G= (p.Gly1174=)
c.2981G= (p.Gly994=)
c.1022G= (p.Gly341=)
c.4226G= (p.Gly1409=)
c.498-6634C=
c.1294-6634C= (n.1294-6634C=)
c.3512G= (p.Gly1171=)
c.4217G= (p.Gly1406=)
c.2972G= (p.Gly991=)
c.1585-2277C= (n.1585-2277C=)

Number of alleles fetched