Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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.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.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.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.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.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=)
21g.45505246G>TCA410499589COL18A1,SLC19A1c.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)
21g.45505246_45505247insCCCCCCCCA2654919429COL18A1,SLC19A1c.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
21g.45505247G>ACA512687278COL18A1,SLC19A1c.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
21g.45505247G>CCA10067594COL18A1,SLC19A1c.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
21g.45505247G=CA2392191288COL18A1,SLC19A1c.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=)
21g.45505247G>TCA10067596COL18A1,SLC19A1c.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
21g.45505247_45505248delinsGCCA2392191287COL18A1,SLC19A1c.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)
21g.45505247_45505255dupCA2740094755COL18A1,SLC19A1c.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
21g.45505247_45505248insGCCA2654919430COL18A1,SLC19A1c.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
21g.45505248C>ACA410499590COL18A1,SLC19A1c.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
21g.45505248C=CA2392191289COL18A1,SLC19A1c.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=)
21g.45505248C>GCA410499591COL18A1,SLC19A1c.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)
21g.45505248C>TCA410499592COL18A1,SLC19A1c.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
21g.45505252dupCA10067595COL18A1,SLC19A1c.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
21g.45505252delCA920319342COL18A1,SLC19A1c.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
21g.45505249C>ACA410499593COL18A1,SLC19A1c.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
21g.45505249C=CA2392191290COL18A1,SLC19A1c.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=)
21g.45505249C>GCA410499594COL18A1,SLC19A1c.3524C>G (p.Pro1175Arg)
c.2984C>G (p.Pro995Arg)
c.1025C>G (p.Pro342Arg)
c.4229C>G (p.Pro1410Arg)
c.498-6637G>C
c.1294-6637G>C (n.1294-6637G>C)
c.3515C>G (p.Pro1172Arg)
c.4220C>G (p.Pro1407Arg)
c.2975C>G (p.Pro992Arg)
c.1585-2280G>C (n.1585-2280G>C)
21g.45505249C>TCA321921494COL18A1,SLC19A1c.3524C>T (p.Pro1175Leu)
c.2984C>T (p.Pro995Leu)
c.1025C>T (p.Pro342Leu)
c.4229C>T (p.Pro1410Leu)
c.498-6637G>A
c.1294-6637G>A (n.1294-6637G>A)
c.3515C>T (p.Pro1172Leu)
c.4220C>T (p.Pro1407Leu)
c.2975C>T (p.Pro992Leu)
c.1585-2280G>A (n.1585-2280G>A)
 ClinVar dbSNP gnomAD v4
21g.45505250C>ACA512687279COL18A1,SLC19A1c.3525C>A (p.Pro1175=)
c.2985C>A (p.Pro995=)
c.1026C>A (p.Pro342=)
c.4230C>A (p.Pro1410=)
c.498-6638G>T
c.1294-6638G>T (n.1294-6638G>T)
c.3516C>A (p.Pro1172=)
c.4221C>A (p.Pro1407=)
c.2976C>A (p.Pro992=)
c.1585-2281G>T (n.1585-2281G>T)
21g.45505250C=CA2392191291COL18A1,SLC19A1c.3525C= (p.Pro1175=)
c.2985C= (p.Pro995=)
c.1026C= (p.Pro342=)
c.4230C= (p.Pro1410=)
c.498-6638G=
c.1294-6638G= (n.1294-6638G=)
c.3516C= (p.Pro1172=)
c.4221C= (p.Pro1407=)
c.2976C= (p.Pro992=)
c.1585-2281G= (n.1585-2281G=)
21g.45505250C>GCA512687280COL18A1,SLC19A1c.3525C>G (p.Pro1175=)
c.2985C>G (p.Pro995=)
c.1026C>G (p.Pro342=)
c.4230C>G (p.Pro1410=)
c.498-6638G>C
c.1294-6638G>C (n.1294-6638G>C)
c.3516C>G (p.Pro1172=)
c.4221C>G (p.Pro1407=)
c.2976C>G (p.Pro992=)
c.1585-2281G>C (n.1585-2281G>C)
21g.45505250C>TCA512687281COL18A1,SLC19A1c.3525C>T (p.Pro1175=)
c.2985C>T (p.Pro995=)
c.1026C>T (p.Pro342=)
c.4230C>T (p.Pro1410=)
c.498-6638G>A
c.1294-6638G>A (n.1294-6638G>A)
c.3516C>T (p.Pro1172=)
c.4221C>T (p.Pro1407=)
c.2976C>T (p.Pro992=)
c.1585-2281G>A (n.1585-2281G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45505252_45505261delCA2695230316COL18A1,SLC19A1c.3527_3536del (p.Pro1176LeufsTer?)
c.2987_2996del (p.Pro996LeufsTer?)
c.1028_1037del (p.Pro343LeufsTer?)
c.4232_4241del (p.Pro1411LeufsTer?)
c.498-6647_498-6638del
c.1294-6647_1294-6638del (n.1294-6647_1294-6638del)
c.3518_3527del (p.Pro1173LeufsTer?)
c.4223_4232del (p.Pro1408LeufsTer?)
c.2978_2987del (p.Pro993LeufsTer?)
c.1585-2290_1585-2281del (n.1585-2290_1585-2281del)
21g.45505251C>ACA410499597COL18A1,SLC19A1c.3526C>A (p.Pro1176Thr)
c.2986C>A (p.Pro996Thr)
c.1027C>A (p.Pro343Thr)
c.4231C>A (p.Pro1411Thr)
c.498-6639G>T
c.1294-6639G>T (n.1294-6639G>T)
c.3517C>A (p.Pro1173Thr)
c.4222C>A (p.Pro1408Thr)
c.2977C>A (p.Pro993Thr)
c.1585-2282G>T (n.1585-2282G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.45505251C=CA2392191292COL18A1,SLC19A1c.3526C= (p.Pro1176=)
c.2986C= (p.Pro996=)
c.1027C= (p.Pro343=)
c.4231C= (p.Pro1411=)
c.498-6639G=
c.1294-6639G= (n.1294-6639G=)
c.3517C= (p.Pro1173=)
c.4222C= (p.Pro1408=)
c.2977C= (p.Pro993=)
c.1585-2282G= (n.1585-2282G=)
21g.45505251C>GCA410499596COL18A1,SLC19A1c.3526C>G (p.Pro1176Ala)
c.2986C>G (p.Pro996Ala)
c.1027C>G (p.Pro343Ala)
c.4231C>G (p.Pro1411Ala)
c.498-6639G>C
c.1294-6639G>C (n.1294-6639G>C)
c.3517C>G (p.Pro1173Ala)
c.4222C>G (p.Pro1408Ala)
c.2977C>G (p.Pro993Ala)
c.1585-2282G>C (n.1585-2282G>C)
21g.45505251C>TCA410499595COL18A1,SLC19A1c.3526C>T (p.Pro1176Ser)
c.2986C>T (p.Pro996Ser)
c.1027C>T (p.Pro343Ser)
c.4231C>T (p.Pro1411Ser)
c.498-6639G>A
c.1294-6639G>A (n.1294-6639G>A)
c.3517C>T (p.Pro1173Ser)
c.4222C>T (p.Pro1408Ser)
c.2977C>T (p.Pro993Ser)
c.1585-2282G>A (n.1585-2282G>A)
21g.45505254_45505262delCA2740094756COL18A1,SLC19A1c.3529_3537del (p.Ser1177_Pro1179del)
c.2989_2997del (p.Ser997_Pro999del)
c.1030_1038del (p.Ser344_Pro346del)
c.4234_4242del (p.Ser1412_Pro1414del)
c.498-6647_498-6639del
c.1294-6647_1294-6639del (n.1294-6647_1294-6639del)
c.3520_3528del (p.Ser1174_Pro1176del)
c.4225_4233del (p.Ser1409_Pro1411del)
c.2980_2988del (p.Ser994_Pro996del)
c.1585-2290_1585-2282del (n.1585-2290_1585-2282del)
 ClinVar
21g.45505252C>ACA410499598COL18A1,SLC19A1c.3527C>A (p.Pro1176His)
c.2987C>A (p.Pro996His)
c.1028C>A (p.Pro343His)
c.4232C>A (p.Pro1411His)
c.498-6640G>T
c.1294-6640G>T (n.1294-6640G>T)
c.3518C>A (p.Pro1173His)
c.4223C>A (p.Pro1408His)
c.2978C>A (p.Pro993His)
c.1585-2283G>T (n.1585-2283G>T)

Number of alleles fetched