| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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.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.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.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.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.45505243_45505244delinsCA | CA2392191283 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45505243_45505245delinsCAG | CA2392191282 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45505244del | CA638497276 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505244A= | CA2392191284 | COL18A1,SLC19A1 | c.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=) | |
| 21 | g.45505244A>C | CA10067593 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505244A>G | CA512687276 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45505244A>T | CA512687277 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505244dup | CA2654919428 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505244_45505245delinsC | CA10603556 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505244_45505253dup | CA2573157802 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505245G>A | CA410499585 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505245G>C | CA321921489 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505245G= | CA2392191285 | COL18A1,SLC19A1 | c.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=) | |
| 21 | g.45505245G>T | CA410499586 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45505247del | CA2695230315 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45505246G>A | CA410499587 | COL18A1,SLC19A1 | c.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 |
| 21 | g.45505246G>C | CA410499588 | COL18A1,SLC19A1 | c.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) | |
| 21 | g.45505246G= | CA2392191286 | COL18A1,SLC19A1 | c.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=) | |
| 21 | g.45505246G>T | CA410499589 | COL18A1,SLC19A1 | c.3521G>T (p.Gly1174Val) c.2981G>T (p.Gly994Val) c.1022G>T (p.Gly341Val) c.4226G>T (p.Gly1409Val) c.498-6634C>A c.1294-6634C>A (n.1294-6634C>A) c.3512G>T (p.Gly1171Val) c.4217G>T (p.Gly1406Val) c.2972G>T (p.Gly991Val) c.1585-2277C>A (n.1585-2277C>A) | |
| 21 | g.45505246_45505247insCCCCCCC | CA2654919429 | COL18A1,SLC19A1 | c.3521_3522insCCCCCCC (p.Ser1177AlafsTer?) c.2981_2982insCCCCCCC (p.Ser997AlafsTer?) c.1022_1023insCCCCCCC (p.Ser344AlafsTer?) c.4226_4227insCCCCCCC (p.Ser1412AlafsTer?) c.498-6635_498-6634insGGGGGGG c.1294-6635_1294-6634insGGGGGGG (n.1294-6635_1294-6634insGGGGGGG) c.3512_3513insCCCCCCC (p.Ser1174AlafsTer?) c.4217_4218insCCCCCCC (p.Ser1409AlafsTer?) c.2972_2973insCCCCCCC (p.Ser994AlafsTer?) c.1585-2278_1585-2277insGGGGGGG (n.1585-2278_1585-2277insGGGGGGG) | gnomAD v4 |
| 21 | g.45505247G>A | CA512687278 | COL18A1,SLC19A1 | c.3522G>A (p.Gly1174=) c.2982G>A (p.Gly994=) c.1023G>A (p.Gly341=) c.4227G>A (p.Gly1409=) c.498-6635C>T c.1294-6635C>T (n.1294-6635C>T) c.3513G>A (p.Gly1171=) c.4218G>A (p.Gly1406=) c.2973G>A (p.Gly991=) c.1585-2278C>T (n.1585-2278C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 21 | g.45505247G>C | CA10067594 | COL18A1,SLC19A1 | c.3522G>C (p.Gly1174=) c.2982G>C (p.Gly994=) c.1023G>C (p.Gly341=) c.4227G>C (p.Gly1409=) c.498-6635C>G c.1294-6635C>G (n.1294-6635C>G) c.3513G>C (p.Gly1171=) c.4218G>C (p.Gly1406=) c.2973G>C (p.Gly991=) c.1585-2278C>G (n.1585-2278C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 21 | g.45505247G= | CA2392191288 | COL18A1,SLC19A1 | c.3522G= (p.Gly1174=) c.2982G= (p.Gly994=) c.1023G= (p.Gly341=) c.4227G= (p.Gly1409=) c.498-6635C= c.1294-6635C= (n.1294-6635C=) c.3513G= (p.Gly1171=) c.4218G= (p.Gly1406=) c.2973G= (p.Gly991=) c.1585-2278C= (n.1585-2278C=) | |
| 21 | g.45505247G>T | CA10067596 | COL18A1,SLC19A1 | c.3522G>T (p.Gly1174=) c.2982G>T (p.Gly994=) c.1023G>T (p.Gly341=) c.4227G>T (p.Gly1409=) c.498-6635C>A c.1294-6635C>A (n.1294-6635C>A) c.3513G>T (p.Gly1171=) c.4218G>T (p.Gly1406=) c.2973G>T (p.Gly991=) c.1585-2278C>A (n.1585-2278C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45505247_45505248delinsGC | CA2392191287 | COL18A1,SLC19A1 | c.3522_3523delinsGC (p.Gly1174=) c.2982_2983delinsGC (p.Gly994=) c.1023_1024delinsGC (p.Gly341=) c.4227_4228delinsGC (p.Gly1409=) c.498-6636_498-6635delinsGC c.1294-6636_1294-6635delinsGC (n.1294-6636_1294-6635delinsGC) c.3513_3514delinsGC (p.Gly1171=) c.4218_4219delinsGC (p.Gly1406=) c.2973_2974delinsGC (p.Gly991=) c.1585-2279_1585-2278delinsGC (n.1585-2279_1585-2278delinsGC) | |
| 21 | g.45505247_45505255dup | CA2740094755 | COL18A1,SLC19A1 | c.3522_3530dup (p.Ser1177_Phe1178insProProSer) c.2982_2990dup (p.Ser997_Phe998insProProSer) c.1023_1031dup (p.Ser344_Phe345insProProSer) c.4227_4235dup (p.Ser1412_Phe1413insProProSer) c.498-6643_498-6635dup c.1294-6643_1294-6635dup (n.1294-6643_1294-6635dup) c.3513_3521dup (p.Ser1174_Phe1175insProProSer) c.4218_4226dup (p.Ser1409_Phe1410insProProSer) c.2973_2981dup (p.Ser994_Phe995insProProSer) c.1585-2286_1585-2278dup (n.1585-2286_1585-2278dup) | ClinVar |
| 21 | g.45505247_45505248insGC | CA2654919430 | COL18A1,SLC19A1 | c.3522_3523insGC (p.Pro1175AlafsTer?) c.2982_2983insGC (p.Pro995AlafsTer?) c.1023_1024insGC (p.Pro342AlafsTer?) c.4227_4228insGC (p.Pro1410AlafsTer?) c.498-6636_498-6635insGC c.1294-6636_1294-6635insGC (n.1294-6636_1294-6635insGC) c.3513_3514insGC (p.Pro1172AlafsTer?) c.4218_4219insGC (p.Pro1407AlafsTer?) c.2973_2974insGC (p.Pro992AlafsTer?) c.1585-2279_1585-2278insGC (n.1585-2279_1585-2278insGC) | gnomAD v4 |
| 21 | g.45505248C>A | CA410499590 | COL18A1,SLC19A1 | c.3523C>A (p.Pro1175Thr) c.2983C>A (p.Pro995Thr) c.1024C>A (p.Pro342Thr) c.4228C>A (p.Pro1410Thr) c.498-6636G>T c.1294-6636G>T (n.1294-6636G>T) c.3514C>A (p.Pro1172Thr) c.4219C>A (p.Pro1407Thr) c.2974C>A (p.Pro992Thr) c.1585-2279G>T (n.1585-2279G>T) | ClinVar dbSNP |
| 21 | g.45505248C= | CA2392191289 | COL18A1,SLC19A1 | c.3523C= (p.Pro1175=) c.2983C= (p.Pro995=) c.1024C= (p.Pro342=) c.4228C= (p.Pro1410=) c.498-6636G= c.1294-6636G= (n.1294-6636G=) c.3514C= (p.Pro1172=) c.4219C= (p.Pro1407=) c.2974C= (p.Pro992=) c.1585-2279G= (n.1585-2279G=) | |
| 21 | g.45505248C>G | CA410499591 | COL18A1,SLC19A1 | c.3523C>G (p.Pro1175Ala) c.2983C>G (p.Pro995Ala) c.1024C>G (p.Pro342Ala) c.4228C>G (p.Pro1410Ala) c.498-6636G>C c.1294-6636G>C (n.1294-6636G>C) c.3514C>G (p.Pro1172Ala) c.4219C>G (p.Pro1407Ala) c.2974C>G (p.Pro992Ala) c.1585-2279G>C (n.1585-2279G>C) | |
| 21 | g.45505248C>T | CA410499592 | COL18A1,SLC19A1 | c.3523C>T (p.Pro1175Ser) c.2983C>T (p.Pro995Ser) c.1024C>T (p.Pro342Ser) c.4228C>T (p.Pro1410Ser) c.498-6636G>A c.1294-6636G>A (n.1294-6636G>A) c.3514C>T (p.Pro1172Ser) c.4219C>T (p.Pro1407Ser) c.2974C>T (p.Pro992Ser) c.1585-2279G>A (n.1585-2279G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45505252dup | CA10067595 | COL18A1,SLC19A1 | c.3527dup (p.Ser1177PhefsTer?) c.2987dup (p.Ser997PhefsTer?) c.1028dup (p.Ser344PhefsTer?) c.4232dup (p.Ser1412PhefsTer?) c.498-6636dup c.1294-6636dup (n.1294-6636dup) c.3518dup (p.Ser1174PhefsTer?) c.4223dup (p.Ser1409PhefsTer?) c.2978dup (p.Ser994PhefsTer?) c.1585-2279dup (n.1585-2279dup) | dbSNP ExAC gnomAD v4 |
| 21 | g.45505252del | CA920319342 | COL18A1,SLC19A1 | c.3527del (p.Pro1176LeufsTer?) c.2987del (p.Pro996LeufsTer?) c.1028del (p.Pro343LeufsTer?) c.4232del (p.Pro1411LeufsTer?) c.498-6636del c.1294-6636del (n.1294-6636del) c.3518del (p.Pro1173LeufsTer?) c.4223del (p.Pro1408LeufsTer?) c.2978del (p.Pro993LeufsTer?) c.1585-2279del (n.1585-2279del) | dbSNP |
| 21 | g.45505249C>A | CA410499593 | COL18A1,SLC19A1 | c.3524C>A (p.Pro1175His) c.2984C>A (p.Pro995His) c.1025C>A (p.Pro342His) c.4229C>A (p.Pro1410His) c.498-6637G>T c.1294-6637G>T (n.1294-6637G>T) c.3515C>A (p.Pro1172His) c.4220C>A (p.Pro1407His) c.2975C>A (p.Pro992His) c.1585-2280G>T (n.1585-2280G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45505249C= | CA2392191290 | COL18A1,SLC19A1 | c.3524C= (p.Pro1175=) c.2984C= (p.Pro995=) c.1025C= (p.Pro342=) c.4229C= (p.Pro1410=) c.498-6637G= c.1294-6637G= (n.1294-6637G=) c.3515C= (p.Pro1172=) c.4220C= (p.Pro1407=) c.2975C= (p.Pro992=) c.1585-2280G= (n.1585-2280G=) |