UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45505187_45505239delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC | CA2392191225 | COL18A1,SLC19A1 | c.3462_3514delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (p.Gly1154=) c.2922_2974delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (p.Gly974=) c.963_1015delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (p.Gly321=) c.4167_4219delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (p.Gly1389=) c.498-6627_498-6575delinsGGCCTGGGGGGCCGGGAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGT c.1294-6627_1294-6575delinsGGCCTGGGGGGCCGGGAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGT (n.1294-6627_1294-6575delinsGGCCTGGGGGGCCGGGAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGT) c.3453_3505delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (p.Gly1151=) c.4158_4210delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (p.Gly1386=) c.2913_2965delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC (p.Gly971=) c.1585-2270_1585-2218delinsGGCCTGGGGGGCCGGGAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGT (n.1585-2270_1585-2218delinsGGCCTGGGGGGCCGGGAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGT) | |
| 21 | g.45505192_45505243del | CA2392191226 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505192_45505252del | CA2580098853 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505213_45505240del | CA2654919265 | COL18A1,SLC19A1 | c.3488_3515del (p.Arg1163ProfsTer?) c.2948_2975del (p.Arg983ProfsTer?) c.989_1016del (p.Arg330ProfsTer?) c.4193_4220del (p.Arg1398ProfsTer?) c.498-6627_498-6600del c.1294-6627_1294-6600del (n.1294-6627_1294-6600del) c.3479_3506del (p.Arg1160ProfsTer?) c.4184_4211del (p.Arg1395ProfsTer?) c.2939_2966del (p.Arg980ProfsTer?) c.1585-2270_1585-2243del (n.1585-2270_1585-2243del) | gnomAD v4 |
| 21 | g.45505213_45505241delinsGCCAGGGCCCTCCCGGCCCCCCAGGCCCC | CA2392191251 | COL18A1,SLC19A1 | c.3488_3516delinsGCCAGGGCCCTCCCGGCCCCCCAGGCCCC (p.Arg1163=) c.2948_2976delinsGCCAGGGCCCTCCCGGCCCCCCAGGCCCC (p.Arg983=) c.989_1017delinsGCCAGGGCCCTCCCGGCCCCCCAGGCCCC (p.Arg330=) c.4193_4221delinsGCCAGGGCCCTCCCGGCCCCCCAGGCCCC (p.Arg1398=) c.498-6629_498-6601delinsGGGGCCTGGGGGGCCGGGAGGGCCCTGGC c.1294-6629_1294-6601delinsGGGGCCTGGGGGGCCGGGAGGGCCCTGGC (n.1294-6629_1294-6601delinsGGGGCCTGGGGGGCCGGGAGGGCCCTGGC) c.3479_3507delinsGCCAGGGCCCTCCCGGCCCCCCAGGCCCC (p.Arg1160=) c.4184_4212delinsGCCAGGGCCCTCCCGGCCCCCCAGGCCCC (p.Arg1395=) c.2939_2967delinsGCCAGGGCCCTCCCGGCCCCCCAGGCCCC (p.Arg980=) c.1585-2272_1585-2244delinsGGGGCCTGGGGGGCCGGGAGGGCCCTGGC (n.1585-2272_1585-2244delinsGGGGCCTGGGGGGCCGGGAGGGCCCTGGC) | |
| 21 | g.45505223_45505250dup | CA2580098856 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505223_45505250del | CA638497268 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505226_45505243dup | CA638497270 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505225_45505252del | CA2580098859 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505240_45505241insTCCCGGCCCCCCAGGCCCCCCAGGCCC | CA2392191261 | COL18A1,SLC19A1 | c.3515_3516insTCCCGGCCCCCCAGGCCCCCCAGGCCC (p.Pro1172_Pro1173insProGlyProProGlyProProGlyPro) c.2975_2976insTCCCGGCCCCCCAGGCCCCCCAGGCCC (p.Pro992_Pro993insProGlyProProGlyProProGlyPro) c.1016_1017insTCCCGGCCCCCCAGGCCCCCCAGGCCC (p.Pro339_Pro340insProGlyProProGlyProProGlyPro) c.4220_4221insTCCCGGCCCCCCAGGCCCCCCAGGCCC (p.Pro1407_Pro1408insProGlyProProGlyProProGlyPro) c.498-6615_498-6614insTGGGGGGCCGGGAGGGCCTGGGGGGCC c.1294-6615_1294-6614insTGGGGGGCCGGGAGGGCCTGGGGGGCC (n.1294-6615_1294-6614insTGGGGGGCCGGGAGGGCCTGGGGGGCC) c.3506_3507insTCCCGGCCCCCCAGGCCCCCCAGGCCC (p.Pro1169_Pro1170insProGlyProProGlyProProGlyPro) c.4211_4212insTCCCGGCCCCCCAGGCCCCCCAGGCCC (p.Pro1404_Pro1405insProGlyProProGlyProProGlyPro) c.2966_2967insTCCCGGCCCCCCAGGCCCCCCAGGCCC (p.Pro989_Pro990insProGlyProProGlyProProGlyPro) c.1585-2258_1585-2257insTGGGGGGCCGGGAGGGCCTGGGGGGCC (n.1585-2258_1585-2257insTGGGGGGCCGGGAGGGCCTGGGGGGCC) | dbSNP |
| 21 | g.45505238_45505246dup | CA10067576 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505238_45505246del | CA10067577 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505234_45505243dup | CA2392191267 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505229_45505247delinsCCCCCCAGGCCCCCCAGGG | CA2392191266 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45505235_45505252dup | CA321921471 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505235_45505252del | CA10067579 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505235_45505245delinsAGGCCCCCCAG | CA2392191273 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45505238_45505239insTCCCCCGGC | CA2580098862 | COL18A1,SLC19A1 | c.3513_3514insTCCCCCGGC (p.Gly1171_Pro1172insSerProGly) c.2973_2974insTCCCCCGGC (p.Gly991_Pro992insSerProGly) c.1014_1015insTCCCCCGGC (p.Gly338_Pro339insSerProGly) c.4218_4219insTCCCCCGGC (p.Gly1406_Pro1407insSerProGly) c.498-6624_498-6623insGGGGGAGCC c.1294-6624_1294-6623insGGGGGAGCC (n.1294-6624_1294-6623insGGGGGAGCC) c.3504_3505insTCCCCCGGC (p.Gly1168_Pro1169insSerProGly) c.4209_4210insTCCCCCGGC (p.Gly1403_Pro1404insSerProGly) c.2964_2965insTCCCCCGGC (p.Gly988_Pro989insSerProGly) c.1585-2267_1585-2266insGGGGGAGCC (n.1585-2267_1585-2266insGGGGGAGCC) | ClinVar |
| 21 | g.45505240_45505241insTCCCGGCCC | CA2577626999 | COL18A1,SLC19A1 | c.3515_3516insTCCCGGCCC (p.Pro1172_Pro1173insProGlyPro) c.2975_2976insTCCCGGCCC (p.Pro992_Pro993insProGlyPro) c.1016_1017insTCCCGGCCC (p.Pro339_Pro340insProGlyPro) c.4220_4221insTCCCGGCCC (p.Pro1407_Pro1408insProGlyPro) c.498-6624_498-6623insGGGAGGGCC c.1294-6624_1294-6623insGGGAGGGCC (n.1294-6624_1294-6623insGGGAGGGCC) c.3506_3507insTCCCGGCCC (p.Pro1169_Pro1170insProGlyPro) c.4211_4212insTCCCGGCCC (p.Pro1404_Pro1405insProGlyPro) c.2966_2967insTCCCGGCCC (p.Pro989_Pro990insProGlyPro) c.1585-2267_1585-2266insGGGAGGGCC (n.1585-2267_1585-2266insGGGAGGGCC) | gnomAD v4 |
| 21 | g.45505240_45505241insTCCCGGCCCCCCAGGCCCCCCCGGCCC | CA2392191275 | COL18A1,SLC19A1 | c.3515_3516insTCCCGGCCCCCCAGGCCCCCCCGGCCC (p.Pro1172_Pro1173insProGlyProProGlyProProGlyPro) c.2975_2976insTCCCGGCCCCCCAGGCCCCCCCGGCCC (p.Pro992_Pro993insProGlyProProGlyProProGlyPro) c.1016_1017insTCCCGGCCCCCCAGGCCCCCCCGGCCC (p.Pro339_Pro340insProGlyProProGlyProProGlyPro) c.4220_4221insTCCCGGCCCCCCAGGCCCCCCCGGCCC (p.Pro1407_Pro1408insProGlyProProGlyProProGlyPro) c.498-6624_498-6623insGGGGGGGCCTGGGGGGCCGGGAGGGCC c.1294-6624_1294-6623insGGGGGGGCCTGGGGGGCCGGGAGGGCC (n.1294-6624_1294-6623insGGGGGGGCCTGGGGGGCCGGGAGGGCC) c.3506_3507insTCCCGGCCCCCCAGGCCCCCCCGGCCC (p.Pro1169_Pro1170insProGlyProProGlyProProGlyPro) c.4211_4212insTCCCGGCCCCCCAGGCCCCCCCGGCCC (p.Pro1404_Pro1405insProGlyProProGlyProProGlyPro) c.2966_2967insTCCCGGCCCCCCAGGCCCCCCCGGCCC (p.Pro989_Pro990insProGlyProProGlyProProGlyPro) c.1585-2267_1585-2266insGGGGGGGCCTGGGGGGCCGGGAGGGCC (n.1585-2267_1585-2266insGGGGGGGCCTGGGGGGCCGGGAGGGCC) | dbSNP |
| 21 | g.45505243_45505244insCGGCCCCCC | CA10067581 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505243_45505244insCCGGCCCCCC | CA2654919416 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505236_45505243dup | CA10067583 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505243_45505252dup | CA10067584 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505243_45505252del | CA10067585 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505243_45505244insCCGCCCCCC | CA2577627003 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505238C>A | CA512687273 | COL18A1,SLC19A1 | c.3513C>A (p.Gly1171=) c.2973C>A (p.Gly991=) c.1014C>A (p.Gly338=) c.4218C>A (p.Gly1406=) c.498-6626G>T c.1294-6626G>T (n.1294-6626G>T) c.3504C>A (p.Gly1168=) c.4209C>A (p.Gly1403=) c.2964C>A (p.Gly988=) c.1585-2269G>T (n.1585-2269G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45505238C= | CA2392191277 | COL18A1,SLC19A1 | c.3513C= (p.Gly1171=) c.2973C= (p.Gly991=) c.1014C= (p.Gly338=) c.4218C= (p.Gly1406=) c.498-6626G= c.1294-6626G= (n.1294-6626G=) c.3504C= (p.Gly1168=) c.4209C= (p.Gly1403=) c.2964C= (p.Gly988=) c.1585-2269G= (n.1585-2269G=) | |
| 21 | g.45505238C>G | CA10067587 | COL18A1,SLC19A1 | c.3513C>G (p.Gly1171=) c.2973C>G (p.Gly991=) c.1014C>G (p.Gly338=) c.4218C>G (p.Gly1406=) c.498-6626G>C c.1294-6626G>C (n.1294-6626G>C) c.3504C>G (p.Gly1168=) c.4209C>G (p.Gly1403=) c.2964C>G (p.Gly988=) c.1585-2269G>C (n.1585-2269G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45505238C>T | CA10067588 | COL18A1,SLC19A1 | c.3513C>T (p.Gly1171=) c.2973C>T (p.Gly991=) c.1014C>T (p.Gly338=) c.4218C>T (p.Gly1406=) c.498-6626G>A c.1294-6626G>A (n.1294-6626G>A) c.3504C>T (p.Gly1168=) c.4209C>T (p.Gly1403=) c.2964C>T (p.Gly988=) c.1585-2269G>A (n.1585-2269G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45505243_45505244insCGGCCCCCCC | CA2577627008 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45505243dup | CA2577627007 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505243del | CA512687274 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505238_45505247delinsCCCCCCAGGG | CA2392191278 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45505239C>A | CA410499575 | COL18A1,SLC19A1 | c.3514C>A (p.Pro1172Thr) c.2974C>A (p.Pro992Thr) c.1015C>A (p.Pro339Thr) c.4219C>A (p.Pro1407Thr) c.498-6627G>T c.1294-6627G>T (n.1294-6627G>T) c.3505C>A (p.Pro1169Thr) c.4210C>A (p.Pro1404Thr) c.2965C>A (p.Pro989Thr) c.1585-2270G>T (n.1585-2270G>T) | |
| 21 | g.45505239C>G | CA410499576 | COL18A1,SLC19A1 | c.3514C>G (p.Pro1172Ala) c.2974C>G (p.Pro992Ala) c.1015C>G (p.Pro339Ala) c.4219C>G (p.Pro1407Ala) c.498-6627G>C c.1294-6627G>C (n.1294-6627G>C) c.3505C>G (p.Pro1169Ala) c.4210C>G (p.Pro1404Ala) c.2965C>G (p.Pro989Ala) c.1585-2270G>C (n.1585-2270G>C) | |
| 21 | g.45505239C>T | CA410499574 | COL18A1,SLC19A1 | c.3514C>T (p.Pro1172Ser) c.2974C>T (p.Pro992Ser) c.1015C>T (p.Pro339Ser) c.4219C>T (p.Pro1407Ser) c.498-6627G>A c.1294-6627G>A (n.1294-6627G>A) c.3505C>T (p.Pro1169Ser) c.4210C>T (p.Pro1404Ser) c.2965C>T (p.Pro989Ser) c.1585-2270G>A (n.1585-2270G>A) | gnomAD v4 |
| 21 | g.45505243_45505244insCGGGCCCCC | CA2654919426 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505243_45505244insCGGCCCCCCAGGGCCCCC | CA749788282 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505246_45505247insCCCCCCAGGGCCCCCAGG | CA2818080268 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45505244_45505252dup | CA10067589 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505244_45505252del | CA10067586 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505240C>A | CA410499577 | COL18A1,SLC19A1 | c.3515C>A (p.Pro1172His) c.2975C>A (p.Pro992His) c.1016C>A (p.Pro339His) c.4220C>A (p.Pro1407His) c.498-6628G>T c.1294-6628G>T (n.1294-6628G>T) c.3506C>A (p.Pro1169His) c.4211C>A (p.Pro1404His) c.2966C>A (p.Pro989His) c.1585-2271G>T (n.1585-2271G>T) | |
| 21 | g.45505240C= | CA2392191279 | COL18A1,SLC19A1 | c.3515C= (p.Pro1172=) c.2975C= (p.Pro992=) c.1016C= (p.Pro339=) c.4220C= (p.Pro1407=) c.498-6628G= c.1294-6628G= (n.1294-6628G=) c.3506C= (p.Pro1169=) c.4211C= (p.Pro1404=) c.2966C= (p.Pro989=) c.1585-2271G= (n.1585-2271G=) | |
| 21 | g.45505240C>G | CA410499578 | COL18A1,SLC19A1 | c.3515C>G (p.Pro1172Arg) c.2975C>G (p.Pro992Arg) c.1016C>G (p.Pro339Arg) c.4220C>G (p.Pro1407Arg) c.498-6628G>C c.1294-6628G>C (n.1294-6628G>C) c.3506C>G (p.Pro1169Arg) c.4211C>G (p.Pro1404Arg) c.2966C>G (p.Pro989Arg) c.1585-2271G>C (n.1585-2271G>C) | |
| 21 | g.45505240C>T | CA410499579 | COL18A1,SLC19A1 | c.3515C>T (p.Pro1172Leu) c.2975C>T (p.Pro992Leu) c.1016C>T (p.Pro339Leu) c.4220C>T (p.Pro1407Leu) c.498-6628G>A c.1294-6628G>A (n.1294-6628G>A) c.3506C>T (p.Pro1169Leu) c.4211C>T (p.Pro1404Leu) c.2966C>T (p.Pro989Leu) c.1585-2271G>A (n.1585-2271G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45505240_45505241insTGGGGG | CA2654919427 | COL18A1,SLC19A1 | c.3515_3516insTGGGGG (p.Pro1172_Pro1173insGlyGly) c.2975_2976insTGGGGG (p.Pro992_Pro993insGlyGly) c.1016_1017insTGGGGG (p.Pro339_Pro340insGlyGly) c.4220_4221insTGGGGG (p.Pro1407_Pro1408insGlyGly) c.498-6629_498-6628insCCCCCA c.1294-6629_1294-6628insCCCCCA (n.1294-6629_1294-6628insCCCCCA) c.3506_3507insTGGGGG (p.Pro1169_Pro1170insGlyGly) c.4211_4212insTGGGGG (p.Pro1404_Pro1405insGlyGly) c.2966_2967insTGGGGG (p.Pro989_Pro990insGlyGly) c.1585-2272_1585-2271insCCCCCA (n.1585-2272_1585-2271insCCCCCA) | gnomAD v4 |
| 21 | g.45505241C>A | CA512687275 | COL18A1,SLC19A1 | c.3516C>A (p.Pro1172=) c.2976C>A (p.Pro992=) c.1017C>A (p.Pro339=) c.4221C>A (p.Pro1407=) c.498-6629G>T c.1294-6629G>T (n.1294-6629G>T) c.3507C>A (p.Pro1169=) c.4212C>A (p.Pro1404=) c.2967C>A (p.Pro989=) c.1585-2272G>T (n.1585-2272G>T) | |
| 21 | g.45505241C= | CA2392191280 | COL18A1,SLC19A1 | c.3516C= (p.Pro1172=) c.2976C= (p.Pro992=) c.1017C= (p.Pro339=) c.4221C= (p.Pro1407=) c.498-6629G= c.1294-6629G= (n.1294-6629G=) c.3507C= (p.Pro1169=) c.4212C= (p.Pro1404=) c.2967C= (p.Pro989=) c.1585-2272G= (n.1585-2272G=) | |
| 21 | g.45505241C>G | CA10067590 | COL18A1,SLC19A1 | c.3516C>G (p.Pro1172=) c.2976C>G (p.Pro992=) c.1017C>G (p.Pro339=) c.4221C>G (p.Pro1407=) c.498-6629G>C c.1294-6629G>C (n.1294-6629G>C) c.3507C>G (p.Pro1169=) c.4212C>G (p.Pro1404=) c.2967C>G (p.Pro989=) c.1585-2272G>C (n.1585-2272G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |