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.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.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.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.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)
21g.45505252C>GCA410499600COL18A1,SLC19A1c.3527C>G (p.Pro1176Arg)
c.2987C>G (p.Pro996Arg)
c.1028C>G (p.Pro343Arg)
c.4232C>G (p.Pro1411Arg)
c.498-6640G>C
c.1294-6640G>C (n.1294-6640G>C)
c.3518C>G (p.Pro1173Arg)
c.4223C>G (p.Pro1408Arg)
c.2978C>G (p.Pro993Arg)
c.1585-2283G>C (n.1585-2283G>C)
21g.45505252C>TCA410499599COL18A1,SLC19A1c.3527C>T (p.Pro1176Leu)
c.2987C>T (p.Pro996Leu)
c.1028C>T (p.Pro343Leu)
c.4232C>T (p.Pro1411Leu)
c.498-6640G>A
c.1294-6640G>A (n.1294-6640G>A)
c.3518C>T (p.Pro1173Leu)
c.4223C>T (p.Pro1408Leu)
c.2978C>T (p.Pro993Leu)
c.1585-2283G>A (n.1585-2283G>A)
 ClinVar
21g.45505253T>ACA512687282COL18A1,SLC19A1c.3528T>A (p.Pro1176=)
c.2988T>A (p.Pro996=)
c.1029T>A (p.Pro343=)
c.4233T>A (p.Pro1411=)
c.498-6641A>T
c.1294-6641A>T (n.1294-6641A>T)
c.3519T>A (p.Pro1173=)
c.4224T>A (p.Pro1408=)
c.2979T>A (p.Pro993=)
c.1585-2284A>T (n.1585-2284A>T)
 gnomAD v4
21g.45505253T>CCA512687283COL18A1,SLC19A1c.3528T>C (p.Pro1176=)
c.2988T>C (p.Pro996=)
c.1029T>C (p.Pro343=)
c.4233T>C (p.Pro1411=)
c.498-6641A>G
c.1294-6641A>G (n.1294-6641A>G)
c.3519T>C (p.Pro1173=)
c.4224T>C (p.Pro1408=)
c.2979T>C (p.Pro993=)
c.1585-2284A>G (n.1585-2284A>G)
 gnomAD v4
21g.45505253T>GCA512687284COL18A1,SLC19A1c.3528T>G (p.Pro1176=)
c.2988T>G (p.Pro996=)
c.1029T>G (p.Pro343=)
c.4233T>G (p.Pro1411=)
c.498-6641A>C
c.1294-6641A>C (n.1294-6641A>C)
c.3519T>G (p.Pro1173=)
c.4224T>G (p.Pro1408=)
c.2979T>G (p.Pro993=)
c.1585-2284A>C (n.1585-2284A>C)
 gnomAD v4
21g.45505254T>ACA410499601COL18A1,SLC19A1c.3529T>A (p.Ser1177Thr)
c.2989T>A (p.Ser997Thr)
c.1030T>A (p.Ser344Thr)
c.4234T>A (p.Ser1412Thr)
c.498-6642A>T
c.1294-6642A>T (n.1294-6642A>T)
c.3520T>A (p.Ser1174Thr)
c.4225T>A (p.Ser1409Thr)
c.2980T>A (p.Ser994Thr)
c.1585-2285A>T (n.1585-2285A>T)
21g.45505254T>CCA410499603COL18A1,SLC19A1c.3529T>C (p.Ser1177Pro)
c.2989T>C (p.Ser997Pro)
c.1030T>C (p.Ser344Pro)
c.4234T>C (p.Ser1412Pro)
c.498-6642A>G
c.1294-6642A>G (n.1294-6642A>G)
c.3520T>C (p.Ser1174Pro)
c.4225T>C (p.Ser1409Pro)
c.2980T>C (p.Ser994Pro)
c.1585-2285A>G (n.1585-2285A>G)
21g.45505254T>GCA410499602COL18A1,SLC19A1c.3529T>G (p.Ser1177Ala)
c.2989T>G (p.Ser997Ala)
c.1030T>G (p.Ser344Ala)
c.4234T>G (p.Ser1412Ala)
c.498-6642A>C
c.1294-6642A>C (n.1294-6642A>C)
c.3520T>G (p.Ser1174Ala)
c.4225T>G (p.Ser1409Ala)
c.2980T>G (p.Ser994Ala)
c.1585-2285A>C (n.1585-2285A>C)
 gnomAD v4
21g.45505255C>ACA410499604COL18A1,SLC19A1c.3530C>A (p.Ser1177Ter)
c.2990C>A (p.Ser997Ter)
c.1031C>A (p.Ser344Ter)
c.4235C>A (p.Ser1412Ter)
c.498-6643G>T
c.1294-6643G>T (n.1294-6643G>T)
c.3521C>A (p.Ser1174Ter)
c.4226C>A (p.Ser1409Ter)
c.2981C>A (p.Ser994Ter)
c.1585-2286G>T (n.1585-2286G>T)
 gnomAD v4
21g.45505255C>GCA410499605COL18A1,SLC19A1c.3530C>G (p.Ser1177Ter)
c.2990C>G (p.Ser997Ter)
c.1031C>G (p.Ser344Ter)
c.4235C>G (p.Ser1412Ter)
c.498-6643G>C
c.1294-6643G>C (n.1294-6643G>C)
c.3521C>G (p.Ser1174Ter)
c.4226C>G (p.Ser1409Ter)
c.2981C>G (p.Ser994Ter)
c.1585-2286G>C (n.1585-2286G>C)
21g.45505255C>TCA410499606COL18A1,SLC19A1c.3530C>T (p.Ser1177Leu)
c.2990C>T (p.Ser997Leu)
c.1031C>T (p.Ser344Leu)
c.4235C>T (p.Ser1412Leu)
c.498-6643G>A
c.1294-6643G>A (n.1294-6643G>A)
c.3521C>T (p.Ser1174Leu)
c.4226C>T (p.Ser1409Leu)
c.2981C>T (p.Ser994Leu)
c.1585-2286G>A (n.1585-2286G>A)
 gnomAD v4
21g.45505256A=CA2392191293COL18A1,SLC19A1c.3531A= (p.Ser1177=)
c.2991A= (p.Ser997=)
c.1032A= (p.Ser344=)
c.4236A= (p.Ser1412=)
c.498-6644T=
c.1294-6644T= (n.1294-6644T=)
c.3522A= (p.Ser1174=)
c.4227A= (p.Ser1409=)
c.2982A= (p.Ser994=)
c.1585-2287T= (n.1585-2287T=)
21g.45505256A>CCA10067597COL18A1,SLC19A1c.3531A>C (p.Ser1177=)
c.2991A>C (p.Ser997=)
c.1032A>C (p.Ser344=)
c.4236A>C (p.Ser1412=)
c.498-6644T>G
c.1294-6644T>G (n.1294-6644T>G)
c.3522A>C (p.Ser1174=)
c.4227A>C (p.Ser1409=)
c.2982A>C (p.Ser994=)
c.1585-2287T>G (n.1585-2287T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45505256A>GCA512687285COL18A1,SLC19A1c.3531A>G (p.Ser1177=)
c.2991A>G (p.Ser997=)
c.1032A>G (p.Ser344=)
c.4236A>G (p.Ser1412=)
c.498-6644T>C
c.1294-6644T>C (n.1294-6644T>C)
c.3522A>G (p.Ser1174=)
c.4227A>G (p.Ser1409=)
c.2982A>G (p.Ser994=)
c.1585-2287T>C (n.1585-2287T>C)
21g.45505256A>TCA512687286COL18A1,SLC19A1c.3531A>T (p.Ser1177=)
c.2991A>T (p.Ser997=)
c.1032A>T (p.Ser344=)
c.4236A>T (p.Ser1412=)
c.498-6644T>A
c.1294-6644T>A (n.1294-6644T>A)
c.3522A>T (p.Ser1174=)
c.4227A>T (p.Ser1409=)
c.2982A>T (p.Ser994=)
c.1585-2287T>A (n.1585-2287T>A)
21g.45505257T>ACA410499607COL18A1,SLC19A1c.3532T>A (p.Phe1178Ile)
c.2992T>A (p.Phe998Ile)
c.1033T>A (p.Phe345Ile)
c.4237T>A (p.Phe1413Ile)
c.498-6645A>T
c.1294-6645A>T (n.1294-6645A>T)
c.3523T>A (p.Phe1175Ile)
c.4228T>A (p.Phe1410Ile)
c.2983T>A (p.Phe995Ile)
c.1585-2288A>T (n.1585-2288A>T)
21g.45505257T>CCA321921497COL18A1,SLC19A1c.3532T>C (p.Phe1178Leu)
c.2992T>C (p.Phe998Leu)
c.1033T>C (p.Phe345Leu)
c.4237T>C (p.Phe1413Leu)
c.498-6645A>G
c.1294-6645A>G (n.1294-6645A>G)
c.3523T>C (p.Phe1175Leu)
c.4228T>C (p.Phe1410Leu)
c.2983T>C (p.Phe995Leu)
c.1585-2288A>G (n.1585-2288A>G)
 dbSNP
21g.45505257T>GCA410499608COL18A1,SLC19A1c.3532T>G (p.Phe1178Val)
c.2992T>G (p.Phe998Val)
c.1033T>G (p.Phe345Val)
c.4237T>G (p.Phe1413Val)
c.498-6645A>C
c.1294-6645A>C (n.1294-6645A>C)
c.3523T>G (p.Phe1175Val)
c.4228T>G (p.Phe1410Val)
c.2983T>G (p.Phe995Val)
c.1585-2288A>C (n.1585-2288A>C)
 gnomAD v4
21g.45505257T=CA2392191294COL18A1,SLC19A1c.3532T= (p.Phe1178=)
c.2992T= (p.Phe998=)
c.1033T= (p.Phe345=)
c.4237T= (p.Phe1413=)
c.498-6645A=
c.1294-6645A= (n.1294-6645A=)
c.3523T= (p.Phe1175=)
c.4228T= (p.Phe1410=)
c.2983T= (p.Phe995=)
c.1585-2288A= (n.1585-2288A=)
21g.45505258T>ACA410499609COL18A1,SLC19A1c.3533T>A (p.Phe1178Tyr)
c.2993T>A (p.Phe998Tyr)
c.1034T>A (p.Phe345Tyr)
c.4238T>A (p.Phe1413Tyr)
c.498-6646A>T
c.1294-6646A>T (n.1294-6646A>T)
c.3524T>A (p.Phe1175Tyr)
c.4229T>A (p.Phe1410Tyr)
c.2984T>A (p.Phe995Tyr)
c.1585-2289A>T (n.1585-2289A>T)
21g.45505258T>CCA410499610COL18A1,SLC19A1c.3533T>C (p.Phe1178Ser)
c.2993T>C (p.Phe998Ser)
c.1034T>C (p.Phe345Ser)
c.4238T>C (p.Phe1413Ser)
c.498-6646A>G
c.1294-6646A>G (n.1294-6646A>G)
c.3524T>C (p.Phe1175Ser)
c.4229T>C (p.Phe1410Ser)
c.2984T>C (p.Phe995Ser)
c.1585-2289A>G (n.1585-2289A>G)
 gnomAD v4

Number of alleles fetched