Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.45505163_45505223delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCA2392191208COL18A1,SLC19A1c.3438_3498delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln1146=)
c.2898_2958delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln966=)
c.939_999delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln313=)
c.4143_4203delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln1381=)
c.498-6611_498-6551delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGTCCCTGAGGTCCAGGTGGGCCGGGC
c.1294-6611_1294-6551delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGTCCCTGAGGTCCAGGTGGGCCGGGC (n.1294-6611_1294-6551delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGTCCCTGAGGTCCAGGTGGGCCGGGC)
c.3429_3489delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln1143=)
c.4134_4194delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln1378=)
c.2889_2949delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln963=)
c.1585-2254_1585-2194delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGTCCCTGAGGTCCAGGTGGGCCGGGC (n.1585-2254_1585-2194delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGTCCCTGAGGTCCAGGTGGGCCGGGC)
21g.45505172_45505231delCA10067544COL18A1,SLC19A1c.3447_3506del (p.Pro1150_Pro1169del)
c.2907_2966del (p.Pro970_Pro989del)
c.948_1007del (p.Pro317_Pro336del)
c.4152_4211del (p.Pro1385_Pro1404del)
c.498-6611_498-6552del
c.1294-6611_1294-6552del (n.1294-6611_1294-6552del)
c.3438_3497del (p.Pro1147_Pro1166del)
c.4143_4202del (p.Pro1382_Pro1401del)
c.2898_2957del (p.Pro967_Pro986del)
c.1585-2254_1585-2195del (n.1585-2254_1585-2195del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505167G>ACA10067547COL18A1,SLC19A1c.3442G>A (p.Gly1148Ser)
c.2902G>A (p.Gly968Ser)
c.943G>A (p.Gly315Ser)
c.4147G>A (p.Gly1383Ser)
c.498-6555C>T
c.1294-6555C>T (n.1294-6555C>T)
c.3433G>A (p.Gly1145Ser)
c.4138G>A (p.Gly1380Ser)
c.2893G>A (p.Gly965Ser)
c.1585-2198C>T (n.1585-2198C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
21g.45505167G>CCA410499438COL18A1,SLC19A1c.3442G>C (p.Gly1148Arg)
c.2902G>C (p.Gly968Arg)
c.943G>C (p.Gly315Arg)
c.4147G>C (p.Gly1383Arg)
c.498-6555C>G
c.1294-6555C>G (n.1294-6555C>G)
c.3433G>C (p.Gly1145Arg)
c.4138G>C (p.Gly1380Arg)
c.2893G>C (p.Gly965Arg)
c.1585-2198C>G (n.1585-2198C>G)
21g.45505167G=CA2392191211COL18A1,SLC19A1c.3442G= (p.Gly1148=)
c.2902G= (p.Gly968=)
c.943G= (p.Gly315=)
c.4147G= (p.Gly1383=)
c.498-6555C=
c.1294-6555C= (n.1294-6555C=)
c.3433G= (p.Gly1145=)
c.4138G= (p.Gly1380=)
c.2893G= (p.Gly965=)
c.1585-2198C= (n.1585-2198C=)
21g.45505167G>TCA410499439COL18A1,SLC19A1c.3442G>T (p.Gly1148Cys)
c.2902G>T (p.Gly968Cys)
c.943G>T (p.Gly315Cys)
c.4147G>T (p.Gly1383Cys)
c.498-6555C>A
c.1294-6555C>A (n.1294-6555C>A)
c.3433G>T (p.Gly1145Cys)
c.4138G>T (p.Gly1380Cys)
c.2893G>T (p.Gly965Cys)
c.1585-2198C>A (n.1585-2198C>A)
21g.45505168G>ACA410499440COL18A1,SLC19A1c.3443G>A (p.Gly1148Asp)
c.2903G>A (p.Gly968Asp)
c.944G>A (p.Gly315Asp)
c.4148G>A (p.Gly1383Asp)
c.498-6556C>T
c.1294-6556C>T (n.1294-6556C>T)
c.3434G>A (p.Gly1145Asp)
c.4139G>A (p.Gly1380Asp)
c.2894G>A (p.Gly965Asp)
c.1585-2199C>T (n.1585-2199C>T)
 gnomAD v4
21g.45505168G>CCA410499441COL18A1,SLC19A1c.3443G>C (p.Gly1148Ala)
c.2903G>C (p.Gly968Ala)
c.944G>C (p.Gly315Ala)
c.4148G>C (p.Gly1383Ala)
c.498-6556C>G
c.1294-6556C>G (n.1294-6556C>G)
c.3434G>C (p.Gly1145Ala)
c.4139G>C (p.Gly1380Ala)
c.2894G>C (p.Gly965Ala)
c.1585-2199C>G (n.1585-2199C>G)
 gnomAD v4
21g.45505168G>TCA410499442COL18A1,SLC19A1c.3443G>T (p.Gly1148Val)
c.2903G>T (p.Gly968Val)
c.944G>T (p.Gly315Val)
c.4148G>T (p.Gly1383Val)
c.498-6556C>A
c.1294-6556C>A (n.1294-6556C>A)
c.3434G>T (p.Gly1145Val)
c.4139G>T (p.Gly1380Val)
c.2894G>T (p.Gly965Val)
c.1585-2199C>A (n.1585-2199C>A)
21g.45505169C>ACA512687228COL18A1,SLC19A1c.3444C>A (p.Gly1148=)
c.2904C>A (p.Gly968=)
c.945C>A (p.Gly315=)
c.4149C>A (p.Gly1383=)
c.498-6557G>T
c.1294-6557G>T (n.1294-6557G>T)
c.3435C>A (p.Gly1145=)
c.4140C>A (p.Gly1380=)
c.2895C>A (p.Gly965=)
c.1585-2200G>T (n.1585-2200G>T)
 dbSNP
21g.45505169C=CA2392191212COL18A1,SLC19A1c.3444C= (p.Gly1148=)
c.2904C= (p.Gly968=)
c.945C= (p.Gly315=)
c.4149C= (p.Gly1383=)
c.498-6557G=
c.1294-6557G= (n.1294-6557G=)
c.3435C= (p.Gly1145=)
c.4140C= (p.Gly1380=)
c.2895C= (p.Gly965=)
c.1585-2200G= (n.1585-2200G=)
21g.45505169C>GCA512687229COL18A1,SLC19A1c.3444C>G (p.Gly1148=)
c.2904C>G (p.Gly968=)
c.945C>G (p.Gly315=)
c.4149C>G (p.Gly1383=)
c.498-6557G>C
c.1294-6557G>C (n.1294-6557G>C)
c.3435C>G (p.Gly1145=)
c.4140C>G (p.Gly1380=)
c.2895C>G (p.Gly965=)
c.1585-2200G>C (n.1585-2200G>C)
 ClinVar dbSNP
21g.45505169C>TCA512687227COL18A1,SLC19A1c.3444C>T (p.Gly1148=)
c.2904C>T (p.Gly968=)
c.945C>T (p.Gly315=)
c.4149C>T (p.Gly1383=)
c.498-6557G>A
c.1294-6557G>A (n.1294-6557G>A)
c.3435C>T (p.Gly1145=)
c.4140C>T (p.Gly1380=)
c.2895C>T (p.Gly965=)
c.1585-2200G>A (n.1585-2200G>A)
 gnomAD v4
21g.45505170C>ACA410499443COL18A1,SLC19A1c.3445C>A (p.Pro1149Thr)
c.2905C>A (p.Pro969Thr)
c.946C>A (p.Pro316Thr)
c.4150C>A (p.Pro1384Thr)
c.498-6558G>T
c.1294-6558G>T (n.1294-6558G>T)
c.3436C>A (p.Pro1146Thr)
c.4141C>A (p.Pro1381Thr)
c.2896C>A (p.Pro966Thr)
c.1585-2201G>T (n.1585-2201G>T)
 gnomAD v4
21g.45505170C=CA2392191213COL18A1,SLC19A1c.3445C= (p.Pro1149=)
c.2905C= (p.Pro969=)
c.946C= (p.Pro316=)
c.4150C= (p.Pro1384=)
c.498-6558G=
c.1294-6558G= (n.1294-6558G=)
c.3436C= (p.Pro1146=)
c.4141C= (p.Pro1381=)
c.2896C= (p.Pro966=)
c.1585-2201G= (n.1585-2201G=)
21g.45505170C>GCA410499444COL18A1,SLC19A1c.3445C>G (p.Pro1149Ala)
c.2905C>G (p.Pro969Ala)
c.946C>G (p.Pro316Ala)
c.4150C>G (p.Pro1384Ala)
c.498-6558G>C
c.1294-6558G>C (n.1294-6558G>C)
c.3436C>G (p.Pro1146Ala)
c.4141C>G (p.Pro1381Ala)
c.2896C>G (p.Pro966Ala)
c.1585-2201G>C (n.1585-2201G>C)
21g.45505170C>TCA321921432COL18A1,SLC19A1c.3445C>T (p.Pro1149Ser)
c.2905C>T (p.Pro969Ser)
c.946C>T (p.Pro316Ser)
c.4150C>T (p.Pro1384Ser)
c.498-6558G>A
c.1294-6558G>A (n.1294-6558G>A)
c.3436C>T (p.Pro1146Ser)
c.4141C>T (p.Pro1381Ser)
c.2896C>T (p.Pro966Ser)
c.1585-2201G>A (n.1585-2201G>A)
 dbSNP gnomAD v4
21g.45505171C>ACA410499447COL18A1,SLC19A1c.3446C>A (p.Pro1149Gln)
c.2906C>A (p.Pro969Gln)
c.947C>A (p.Pro316Gln)
c.4151C>A (p.Pro1384Gln)
c.498-6559G>T
c.1294-6559G>T (n.1294-6559G>T)
c.3437C>A (p.Pro1146Gln)
c.4142C>A (p.Pro1381Gln)
c.2897C>A (p.Pro966Gln)
c.1585-2202G>T (n.1585-2202G>T)
21g.45505171C>GCA410499446COL18A1,SLC19A1c.3446C>G (p.Pro1149Arg)
c.2906C>G (p.Pro969Arg)
c.947C>G (p.Pro316Arg)
c.4151C>G (p.Pro1384Arg)
c.498-6559G>C
c.1294-6559G>C (n.1294-6559G>C)
c.3437C>G (p.Pro1146Arg)
c.4142C>G (p.Pro1381Arg)
c.2897C>G (p.Pro966Arg)
c.1585-2202G>C (n.1585-2202G>C)
21g.45505171C>TCA410499445COL18A1,SLC19A1c.3446C>T (p.Pro1149Leu)
c.2906C>T (p.Pro969Leu)
c.947C>T (p.Pro316Leu)
c.4151C>T (p.Pro1384Leu)
c.498-6559G>A
c.1294-6559G>A (n.1294-6559G>A)
c.3437C>T (p.Pro1146Leu)
c.4142C>T (p.Pro1381Leu)
c.2897C>T (p.Pro966Leu)
c.1585-2202G>A (n.1585-2202G>A)
21g.45505172A=CA2392191214COL18A1,SLC19A1c.3447A= (p.Pro1149=)
c.2907A= (p.Pro969=)
c.948A= (p.Pro316=)
c.4152A= (p.Pro1384=)
c.498-6560T=
c.1294-6560T= (n.1294-6560T=)
c.3438A= (p.Pro1146=)
c.4143A= (p.Pro1381=)
c.2898A= (p.Pro966=)
c.1585-2203T= (n.1585-2203T=)
21g.45505172A>CCA512687232COL18A1,SLC19A1c.3447A>C (p.Pro1149=)
c.2907A>C (p.Pro969=)
c.948A>C (p.Pro316=)
c.4152A>C (p.Pro1384=)
c.498-6560T>G
c.1294-6560T>G (n.1294-6560T>G)
c.3438A>C (p.Pro1146=)
c.4143A>C (p.Pro1381=)
c.2898A>C (p.Pro966=)
c.1585-2203T>G (n.1585-2203T>G)
 dbSNP
21g.45505172A>GCA512687230COL18A1,SLC19A1c.3447A>G (p.Pro1149=)
c.2907A>G (p.Pro969=)
c.948A>G (p.Pro316=)
c.4152A>G (p.Pro1384=)
c.498-6560T>C
c.1294-6560T>C (n.1294-6560T>C)
c.3438A>G (p.Pro1146=)
c.4143A>G (p.Pro1381=)
c.2898A>G (p.Pro966=)
c.1585-2203T>C (n.1585-2203T>C)
21g.45505172A>TCA512687231COL18A1,SLC19A1c.3447A>T (p.Pro1149=)
c.2907A>T (p.Pro969=)
c.948A>T (p.Pro316=)
c.4152A>T (p.Pro1384=)
c.498-6560T>A
c.1294-6560T>A (n.1294-6560T>A)
c.3438A>T (p.Pro1146=)
c.4143A>T (p.Pro1381=)
c.2898A>T (p.Pro966=)
c.1585-2203T>A (n.1585-2203T>A)
21g.45505173C>ACA10067548COL18A1,SLC19A1c.3448C>A (p.Pro1150Thr)
c.2908C>A (p.Pro970Thr)
c.949C>A (p.Pro317Thr)
c.4153C>A (p.Pro1385Thr)
c.498-6561G>T
c.1294-6561G>T (n.1294-6561G>T)
c.3439C>A (p.Pro1147Thr)
c.4144C>A (p.Pro1382Thr)
c.2899C>A (p.Pro967Thr)
c.1585-2204G>T (n.1585-2204G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45505173C=CA2392191215COL18A1,SLC19A1c.3448C= (p.Pro1150=)
c.2908C= (p.Pro970=)
c.949C= (p.Pro317=)
c.4153C= (p.Pro1385=)
c.498-6561G=
c.1294-6561G= (n.1294-6561G=)
c.3439C= (p.Pro1147=)
c.4144C= (p.Pro1382=)
c.2899C= (p.Pro967=)
c.1585-2204G= (n.1585-2204G=)
21g.45505173C>GCA410499448COL18A1,SLC19A1c.3448C>G (p.Pro1150Ala)
c.2908C>G (p.Pro970Ala)
c.949C>G (p.Pro317Ala)
c.4153C>G (p.Pro1385Ala)
c.498-6561G>C
c.1294-6561G>C (n.1294-6561G>C)
c.3439C>G (p.Pro1147Ala)
c.4144C>G (p.Pro1382Ala)
c.2899C>G (p.Pro967Ala)
c.1585-2204G>C (n.1585-2204G>C)
21g.45505173C>TCA410499449COL18A1,SLC19A1c.3448C>T (p.Pro1150Ser)
c.2908C>T (p.Pro970Ser)
c.949C>T (p.Pro317Ser)
c.4153C>T (p.Pro1385Ser)
c.498-6561G>A
c.1294-6561G>A (n.1294-6561G>A)
c.3439C>T (p.Pro1147Ser)
c.4144C>T (p.Pro1382Ser)
c.2899C>T (p.Pro967Ser)
c.1585-2204G>A (n.1585-2204G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
21g.45505174C>ACA410499450COL18A1,SLC19A1c.3449C>A (p.Pro1150His)
c.2909C>A (p.Pro970His)
c.950C>A (p.Pro317His)
c.4154C>A (p.Pro1385His)
c.498-6562G>T
c.1294-6562G>T (n.1294-6562G>T)
c.3440C>A (p.Pro1147His)
c.4145C>A (p.Pro1382His)
c.2900C>A (p.Pro967His)
c.1585-2205G>T (n.1585-2205G>T)
21g.45505174C=CA2392191216COL18A1,SLC19A1c.3449C= (p.Pro1150=)
c.2909C= (p.Pro970=)
c.950C= (p.Pro317=)
c.4154C= (p.Pro1385=)
c.498-6562G=
c.1294-6562G= (n.1294-6562G=)
c.3440C= (p.Pro1147=)
c.4145C= (p.Pro1382=)
c.2900C= (p.Pro967=)
c.1585-2205G= (n.1585-2205G=)
21g.45505174C>GCA410499451COL18A1,SLC19A1c.3449C>G (p.Pro1150Arg)
c.2909C>G (p.Pro970Arg)
c.950C>G (p.Pro317Arg)
c.4154C>G (p.Pro1385Arg)
c.498-6562G>C
c.1294-6562G>C (n.1294-6562G>C)
c.3440C>G (p.Pro1147Arg)
c.4145C>G (p.Pro1382Arg)
c.2900C>G (p.Pro967Arg)
c.1585-2205G>C (n.1585-2205G>C)
 dbSNP gnomAD v2
21g.45505174C>TCA10067549COL18A1,SLC19A1c.3449C>T (p.Pro1150Leu)
c.2909C>T (p.Pro970Leu)
c.950C>T (p.Pro317Leu)
c.4154C>T (p.Pro1385Leu)
c.498-6562G>A
c.1294-6562G>A (n.1294-6562G>A)
c.3440C>T (p.Pro1147Leu)
c.4145C>T (p.Pro1382Leu)
c.2900C>T (p.Pro967Leu)
c.1585-2205G>A (n.1585-2205G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45505175T>ACA512687235COL18A1,SLC19A1c.3450T>A (p.Pro1150=)
c.2910T>A (p.Pro970=)
c.951T>A (p.Pro317=)
c.4155T>A (p.Pro1385=)
c.498-6563A>T
c.1294-6563A>T (n.1294-6563A>T)
c.3441T>A (p.Pro1147=)
c.4146T>A (p.Pro1382=)
c.2901T>A (p.Pro967=)
c.1585-2206A>T (n.1585-2206A>T)
21g.45505175T>CCA512687234COL18A1,SLC19A1c.3450T>C (p.Pro1150=)
c.2910T>C (p.Pro970=)
c.951T>C (p.Pro317=)
c.4155T>C (p.Pro1385=)
c.498-6563A>G
c.1294-6563A>G (n.1294-6563A>G)
c.3441T>C (p.Pro1147=)
c.4146T>C (p.Pro1382=)
c.2901T>C (p.Pro967=)
c.1585-2206A>G (n.1585-2206A>G)
 dbSNP gnomAD v3 gnomAD v4
21g.45505175T>GCA512687233COL18A1,SLC19A1c.3450T>G (p.Pro1150=)
c.2910T>G (p.Pro970=)
c.951T>G (p.Pro317=)
c.4155T>G (p.Pro1385=)
c.498-6563A>C
c.1294-6563A>C (n.1294-6563A>C)
c.3441T>G (p.Pro1147=)
c.4146T>G (p.Pro1382=)
c.2901T>G (p.Pro967=)
c.1585-2206A>C (n.1585-2206A>C)
21g.45505175T=CA2392191217COL18A1,SLC19A1c.3450T= (p.Pro1150=)
c.2910T= (p.Pro970=)
c.951T= (p.Pro317=)
c.4155T= (p.Pro1385=)
c.498-6563A=
c.1294-6563A= (n.1294-6563A=)
c.3441T= (p.Pro1147=)
c.4146T= (p.Pro1382=)
c.2901T= (p.Pro967=)
c.1585-2206A= (n.1585-2206A=)
21g.45505176G>ACA410499452COL18A1,SLC19A1c.3451G>A (p.Gly1151Arg)
c.2911G>A (p.Gly971Arg)
c.952G>A (p.Gly318Arg)
c.4156G>A (p.Gly1386Arg)
c.498-6564C>T
c.1294-6564C>T (n.1294-6564C>T)
c.3442G>A (p.Gly1148Arg)
c.4147G>A (p.Gly1383Arg)
c.2902G>A (p.Gly968Arg)
c.1585-2207C>T (n.1585-2207C>T)
 gnomAD v4
21g.45505176G>CCA410499453COL18A1,SLC19A1c.3451G>C (p.Gly1151Arg)
c.2911G>C (p.Gly971Arg)
c.952G>C (p.Gly318Arg)
c.4156G>C (p.Gly1386Arg)
c.498-6564C>G
c.1294-6564C>G (n.1294-6564C>G)
c.3442G>C (p.Gly1148Arg)
c.4147G>C (p.Gly1383Arg)
c.2902G>C (p.Gly968Arg)
c.1585-2207C>G (n.1585-2207C>G)
21g.45505176G>TCA410499454COL18A1,SLC19A1c.3451G>T (p.Gly1151Ter)
c.2911G>T (p.Gly971Ter)
c.952G>T (p.Gly318Ter)
c.4156G>T (p.Gly1386Ter)
c.498-6564C>A
c.1294-6564C>A (n.1294-6564C>A)
c.3442G>T (p.Gly1148Ter)
c.4147G>T (p.Gly1383Ter)
c.2902G>T (p.Gly968Ter)
c.1585-2207C>A (n.1585-2207C>A)
21g.45505177G>ACA410499455COL18A1,SLC19A1c.3452G>A (p.Gly1151Glu)
c.2912G>A (p.Gly971Glu)
c.953G>A (p.Gly318Glu)
c.4157G>A (p.Gly1386Glu)
c.498-6565C>T
c.1294-6565C>T (n.1294-6565C>T)
c.3443G>A (p.Gly1148Glu)
c.4148G>A (p.Gly1383Glu)
c.2903G>A (p.Gly968Glu)
c.1585-2208C>T (n.1585-2208C>T)
21g.45505177G>CCA410499456COL18A1,SLC19A1c.3452G>C (p.Gly1151Ala)
c.2912G>C (p.Gly971Ala)
c.953G>C (p.Gly318Ala)
c.4157G>C (p.Gly1386Ala)
c.498-6565C>G
c.1294-6565C>G (n.1294-6565C>G)
c.3443G>C (p.Gly1148Ala)
c.4148G>C (p.Gly1383Ala)
c.2903G>C (p.Gly968Ala)
c.1585-2208C>G (n.1585-2208C>G)
21g.45505177G>TCA410499457COL18A1,SLC19A1c.3452G>T (p.Gly1151Val)
c.2912G>T (p.Gly971Val)
c.953G>T (p.Gly318Val)
c.4157G>T (p.Gly1386Val)
c.498-6565C>A
c.1294-6565C>A (n.1294-6565C>A)
c.3443G>T (p.Gly1148Val)
c.4148G>T (p.Gly1383Val)
c.2903G>T (p.Gly968Val)
c.1585-2208C>A (n.1585-2208C>A)
 gnomAD v4
21g.45505178A=CA2392191218COL18A1,SLC19A1c.3453A= (p.Gly1151=)
c.2913A= (p.Gly971=)
c.954A= (p.Gly318=)
c.4158A= (p.Gly1386=)
c.498-6566T=
c.1294-6566T= (n.1294-6566T=)
c.3444A= (p.Gly1148=)
c.4149A= (p.Gly1383=)
c.2904A= (p.Gly968=)
c.1585-2209T= (n.1585-2209T=)
21g.45505178A>CCA512687236COL18A1,SLC19A1c.3453A>C (p.Gly1151=)
c.2913A>C (p.Gly971=)
c.954A>C (p.Gly318=)
c.4158A>C (p.Gly1386=)
c.498-6566T>G
c.1294-6566T>G (n.1294-6566T>G)
c.3444A>C (p.Gly1148=)
c.4149A>C (p.Gly1383=)
c.2904A>C (p.Gly968=)
c.1585-2209T>G (n.1585-2209T>G)
21g.45505178A>GCA512687237COL18A1,SLC19A1c.3453A>G (p.Gly1151=)
c.2913A>G (p.Gly971=)
c.954A>G (p.Gly318=)
c.4158A>G (p.Gly1386=)
c.498-6566T>C
c.1294-6566T>C (n.1294-6566T>C)
c.3444A>G (p.Gly1148=)
c.4149A>G (p.Gly1383=)
c.2904A>G (p.Gly968=)
c.1585-2209T>C (n.1585-2209T>C)
 dbSNP gnomAD v4
21g.45505178A>TCA512687238COL18A1,SLC19A1c.3453A>T (p.Gly1151=)
c.2913A>T (p.Gly971=)
c.954A>T (p.Gly318=)
c.4158A>T (p.Gly1386=)
c.498-6566T>A
c.1294-6566T>A (n.1294-6566T>A)
c.3444A>T (p.Gly1148=)
c.4149A>T (p.Gly1383=)
c.2904A>T (p.Gly968=)
c.1585-2209T>A (n.1585-2209T>A)
21g.45505179C>ACA321921436COL18A1,SLC19A1c.3454C>A (p.Pro1152Thr)
c.2914C>A (p.Pro972Thr)
c.955C>A (p.Pro319Thr)
c.4159C>A (p.Pro1387Thr)
c.498-6567G>T
c.1294-6567G>T (n.1294-6567G>T)
c.3445C>A (p.Pro1149Thr)
c.4150C>A (p.Pro1384Thr)
c.2905C>A (p.Pro969Thr)
c.1585-2210G>T (n.1585-2210G>T)
 dbSNP gnomAD v3 gnomAD v4
21g.45505179C=CA2392191219COL18A1,SLC19A1c.3454C= (p.Pro1152=)
c.2914C= (p.Pro972=)
c.955C= (p.Pro319=)
c.4159C= (p.Pro1387=)
c.498-6567G=
c.1294-6567G= (n.1294-6567G=)
c.3445C= (p.Pro1149=)
c.4150C= (p.Pro1384=)
c.2905C= (p.Pro969=)
c.1585-2210G= (n.1585-2210G=)
21g.45505179C>GCA410499459COL18A1,SLC19A1c.3454C>G (p.Pro1152Ala)
c.2914C>G (p.Pro972Ala)
c.955C>G (p.Pro319Ala)
c.4159C>G (p.Pro1387Ala)
c.498-6567G>C
c.1294-6567G>C (n.1294-6567G>C)
c.3445C>G (p.Pro1149Ala)
c.4150C>G (p.Pro1384Ala)
c.2905C>G (p.Pro969Ala)
c.1585-2210G>C (n.1585-2210G>C)
21g.45505179C>TCA410499458COL18A1,SLC19A1c.3454C>T (p.Pro1152Ser)
c.2914C>T (p.Pro972Ser)
c.955C>T (p.Pro319Ser)
c.4159C>T (p.Pro1387Ser)
c.498-6567G>A
c.1294-6567G>A (n.1294-6567G>A)
c.3445C>T (p.Pro1149Ser)
c.4150C>T (p.Pro1384Ser)
c.2905C>T (p.Pro969Ser)
c.1585-2210G>A (n.1585-2210G>A)
21g.45505180C>ACA410499460COL18A1,SLC19A1c.3455C>A (p.Pro1152His)
c.2915C>A (p.Pro972His)
c.956C>A (p.Pro319His)
c.4160C>A (p.Pro1387His)
c.498-6568G>T
c.1294-6568G>T (n.1294-6568G>T)
c.3446C>A (p.Pro1149His)
c.4151C>A (p.Pro1384His)
c.2906C>A (p.Pro969His)
c.1585-2211G>T (n.1585-2211G>T)
 ClinVar dbSNP gnomAD v4
21g.45505180C=CA2392191220COL18A1,SLC19A1c.3455C= (p.Pro1152=)
c.2915C= (p.Pro972=)
c.956C= (p.Pro319=)
c.4160C= (p.Pro1387=)
c.498-6568G=
c.1294-6568G= (n.1294-6568G=)
c.3446C= (p.Pro1149=)
c.4151C= (p.Pro1384=)
c.2906C= (p.Pro969=)
c.1585-2211G= (n.1585-2211G=)
21g.45505180C>GCA410499461COL18A1,SLC19A1c.3455C>G (p.Pro1152Arg)
c.2915C>G (p.Pro972Arg)
c.956C>G (p.Pro319Arg)
c.4160C>G (p.Pro1387Arg)
c.498-6568G>C
c.1294-6568G>C (n.1294-6568G>C)
c.3446C>G (p.Pro1149Arg)
c.4151C>G (p.Pro1384Arg)
c.2906C>G (p.Pro969Arg)
c.1585-2211G>C (n.1585-2211G>C)
21g.45505180C>TCA10067550COL18A1,SLC19A1c.3455C>T (p.Pro1152Leu)
c.2915C>T (p.Pro972Leu)
c.956C>T (p.Pro319Leu)
c.4160C>T (p.Pro1387Leu)
c.498-6568G>A
c.1294-6568G>A (n.1294-6568G>A)
c.3446C>T (p.Pro1149Leu)
c.4151C>T (p.Pro1384Leu)
c.2906C>T (p.Pro969Leu)
c.1585-2211G>A (n.1585-2211G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45505181T>ACA512687239COL18A1,SLC19A1c.3456T>A (p.Pro1152=)
c.2916T>A (p.Pro972=)
c.957T>A (p.Pro319=)
c.4161T>A (p.Pro1387=)
c.498-6569A>T
c.1294-6569A>T (n.1294-6569A>T)
c.3447T>A (p.Pro1149=)
c.4152T>A (p.Pro1384=)
c.2907T>A (p.Pro969=)
c.1585-2212A>T (n.1585-2212A>T)
 gnomAD v4
21g.45505181T>CCA10067551COL18A1,SLC19A1c.3456T>C (p.Pro1152=)
c.2916T>C (p.Pro972=)
c.957T>C (p.Pro319=)
c.4161T>C (p.Pro1387=)
c.498-6569A>G
c.1294-6569A>G (n.1294-6569A>G)
c.3447T>C (p.Pro1149=)
c.4152T>C (p.Pro1384=)
c.2907T>C (p.Pro969=)
c.1585-2212A>G (n.1585-2212A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505181T>GCA512687240COL18A1,SLC19A1c.3456T>G (p.Pro1152=)
c.2916T>G (p.Pro972=)
c.957T>G (p.Pro319=)
c.4161T>G (p.Pro1387=)
c.498-6569A>C
c.1294-6569A>C (n.1294-6569A>C)
c.3447T>G (p.Pro1149=)
c.4152T>G (p.Pro1384=)
c.2907T>G (p.Pro969=)
c.1585-2212A>C (n.1585-2212A>C)
 gnomAD v4
21g.45505181T=CA2392191221COL18A1,SLC19A1c.3456T= (p.Pro1152=)
c.2916T= (p.Pro972=)
c.957T= (p.Pro319=)
c.4161T= (p.Pro1387=)
c.498-6569A=
c.1294-6569A= (n.1294-6569A=)
c.3447T= (p.Pro1149=)
c.4152T= (p.Pro1384=)
c.2907T= (p.Pro969=)
c.1585-2212A= (n.1585-2212A=)
21g.45505182C>ACA410499462COL18A1,SLC19A1c.3457C>A (p.Gln1153Lys)
c.2917C>A (p.Gln973Lys)
c.958C>A (p.Gln320Lys)
c.4162C>A (p.Gln1388Lys)
c.498-6570G>T
c.1294-6570G>T (n.1294-6570G>T)
c.3448C>A (p.Gln1150Lys)
c.4153C>A (p.Gln1385Lys)
c.2908C>A (p.Gln970Lys)
c.1585-2213G>T (n.1585-2213G>T)
21g.45505182C=CA2392191222COL18A1,SLC19A1c.3457C= (p.Gln1153=)
c.2917C= (p.Gln973=)
c.958C= (p.Gln320=)
c.4162C= (p.Gln1388=)
c.498-6570G=
c.1294-6570G= (n.1294-6570G=)
c.3448C= (p.Gln1150=)
c.4153C= (p.Gln1385=)
c.2908C= (p.Gln970=)
c.1585-2213G= (n.1585-2213G=)
21g.45505182C>GCA410499463COL18A1,SLC19A1c.3457C>G (p.Gln1153Glu)
c.2917C>G (p.Gln973Glu)
c.958C>G (p.Gln320Glu)
c.4162C>G (p.Gln1388Glu)
c.498-6570G>C
c.1294-6570G>C (n.1294-6570G>C)
c.3448C>G (p.Gln1150Glu)
c.4153C>G (p.Gln1385Glu)
c.2908C>G (p.Gln970Glu)
c.1585-2213G>C (n.1585-2213G>C)
 dbSNP gnomAD v4
21g.45505182C>TCA410499464COL18A1,SLC19A1c.3457C>T (p.Gln1153Ter)
c.2917C>T (p.Gln973Ter)
c.958C>T (p.Gln320Ter)
c.4162C>T (p.Gln1388Ter)
c.498-6570G>A
c.1294-6570G>A (n.1294-6570G>A)
c.3448C>T (p.Gln1150Ter)
c.4153C>T (p.Gln1385Ter)
c.2908C>T (p.Gln970Ter)
c.1585-2213G>A (n.1585-2213G>A)
 ClinVar dbSNP COSMIC COSMIC
21g.45505187_45505219delCA2654919199COL18A1,SLC19A1c.3462_3494del (p.Pro1155_Gly1165del)
c.2922_2954del (p.Pro975_Gly985del)
c.963_995del (p.Pro322_Gly332del)
c.4167_4199del (p.Pro1390_Gly1400del)
c.498-6602_498-6570del
c.1294-6602_1294-6570del (n.1294-6602_1294-6570del)
c.3453_3485del (p.Pro1152_Gly1162del)
c.4158_4190del (p.Pro1387_Gly1397del)
c.2913_2945del (p.Pro972_Gly982del)
c.1585-2245_1585-2213del (n.1585-2245_1585-2213del)
 gnomAD v4
21g.45505183A>CCA410499465COL18A1,SLC19A1c.3458A>C (p.Gln1153Pro)
c.2918A>C (p.Gln973Pro)
c.959A>C (p.Gln320Pro)
c.4163A>C (p.Gln1388Pro)
c.498-6571T>G
c.1294-6571T>G (n.1294-6571T>G)
c.3449A>C (p.Gln1150Pro)
c.4154A>C (p.Gln1385Pro)
c.2909A>C (p.Gln970Pro)
c.1585-2214T>G (n.1585-2214T>G)
 gnomAD v4
21g.45505183A>GCA410499466COL18A1,SLC19A1c.3458A>G (p.Gln1153Arg)
c.2918A>G (p.Gln973Arg)
c.959A>G (p.Gln320Arg)
c.4163A>G (p.Gln1388Arg)
c.498-6571T>C
c.1294-6571T>C (n.1294-6571T>C)
c.3449A>G (p.Gln1150Arg)
c.4154A>G (p.Gln1385Arg)
c.2909A>G (p.Gln970Arg)
c.1585-2214T>C (n.1585-2214T>C)
21g.45505183A>TCA410499467COL18A1,SLC19A1c.3458A>T (p.Gln1153Leu)
c.2918A>T (p.Gln973Leu)
c.959A>T (p.Gln320Leu)
c.4163A>T (p.Gln1388Leu)
c.498-6571T>A
c.1294-6571T>A (n.1294-6571T>A)
c.3449A>T (p.Gln1150Leu)
c.4154A>T (p.Gln1385Leu)
c.2909A>T (p.Gln970Leu)
c.1585-2214T>A (n.1585-2214T>A)
21g.45505184G>ACA512687241COL18A1,SLC19A1c.3459G>A (p.Gln1153=)
c.2919G>A (p.Gln973=)
c.960G>A (p.Gln320=)
c.4164G>A (p.Gln1388=)
c.498-6572C>T
c.1294-6572C>T (n.1294-6572C>T)
c.3450G>A (p.Gln1150=)
c.4155G>A (p.Gln1385=)
c.2910G>A (p.Gln970=)
c.1585-2215C>T (n.1585-2215C>T)
21g.45505184G>CCA410499468COL18A1,SLC19A1c.3459G>C (p.Gln1153His)
c.2919G>C (p.Gln973His)
c.960G>C (p.Gln320His)
c.4164G>C (p.Gln1388His)
c.498-6572C>G
c.1294-6572C>G (n.1294-6572C>G)
c.3450G>C (p.Gln1150His)
c.4155G>C (p.Gln1385His)
c.2910G>C (p.Gln970His)
c.1585-2215C>G (n.1585-2215C>G)
21g.45505184G>TCA410499469COL18A1,SLC19A1c.3459G>T (p.Gln1153His)
c.2919G>T (p.Gln973His)
c.960G>T (p.Gln320His)
c.4164G>T (p.Gln1388His)
c.498-6572C>A
c.1294-6572C>A (n.1294-6572C>A)
c.3450G>T (p.Gln1150His)
c.4155G>T (p.Gln1385His)
c.2910G>T (p.Gln970His)
c.1585-2215C>A (n.1585-2215C>A)
21g.45505185G>ACA410499472COL18A1,SLC19A1c.3460G>A (p.Gly1154Arg)
c.2920G>A (p.Gly974Arg)
c.961G>A (p.Gly321Arg)
c.4165G>A (p.Gly1389Arg)
c.498-6573C>T
c.1294-6573C>T (n.1294-6573C>T)
c.3451G>A (p.Gly1151Arg)
c.4156G>A (p.Gly1386Arg)
c.2911G>A (p.Gly971Arg)
c.1585-2216C>T (n.1585-2216C>T)
21g.45505185G>CCA410499471COL18A1,SLC19A1c.3460G>C (p.Gly1154Arg)
c.2920G>C (p.Gly974Arg)
c.961G>C (p.Gly321Arg)
c.4165G>C (p.Gly1389Arg)
c.498-6573C>G
c.1294-6573C>G (n.1294-6573C>G)
c.3451G>C (p.Gly1151Arg)
c.4156G>C (p.Gly1386Arg)
c.2911G>C (p.Gly971Arg)
c.1585-2216C>G (n.1585-2216C>G)
21g.45505185G>TCA410499470COL18A1,SLC19A1c.3460G>T (p.Gly1154Ter)
c.2920G>T (p.Gly974Ter)
c.961G>T (p.Gly321Ter)
c.4165G>T (p.Gly1389Ter)
c.498-6573C>A
c.1294-6573C>A (n.1294-6573C>A)
c.3451G>T (p.Gly1151Ter)
c.4156G>T (p.Gly1386Ter)
c.2911G>T (p.Gly971Ter)
c.1585-2216C>A (n.1585-2216C>A)
21g.45505186G>ACA410499473COL18A1,SLC19A1c.3461G>A (p.Gly1154Glu)
c.2921G>A (p.Gly974Glu)
c.962G>A (p.Gly321Glu)
c.4166G>A (p.Gly1389Glu)
c.498-6574C>T
c.1294-6574C>T (n.1294-6574C>T)
c.3452G>A (p.Gly1151Glu)
c.4157G>A (p.Gly1386Glu)
c.2912G>A (p.Gly971Glu)
c.1585-2217C>T (n.1585-2217C>T)
 ClinVar dbSNP gnomAD v4
21g.45505186G>CCA410499474COL18A1,SLC19A1c.3461G>C (p.Gly1154Ala)
c.2921G>C (p.Gly974Ala)
c.962G>C (p.Gly321Ala)
c.4166G>C (p.Gly1389Ala)
c.498-6574C>G
c.1294-6574C>G (n.1294-6574C>G)
c.3452G>C (p.Gly1151Ala)
c.4157G>C (p.Gly1386Ala)
c.2912G>C (p.Gly971Ala)
c.1585-2217C>G (n.1585-2217C>G)
21g.45505186G>TCA410499475COL18A1,SLC19A1c.3461G>T (p.Gly1154Val)
c.2921G>T (p.Gly974Val)
c.962G>T (p.Gly321Val)
c.4166G>T (p.Gly1389Val)
c.498-6574C>A
c.1294-6574C>A (n.1294-6574C>A)
c.3452G>T (p.Gly1151Val)
c.4157G>T (p.Gly1386Val)
c.2912G>T (p.Gly971Val)
c.1585-2217C>A (n.1585-2217C>A)
21g.45505187A=CA2392191224COL18A1,SLC19A1c.3462A= (p.Gly1154=)
c.2922A= (p.Gly974=)
c.963A= (p.Gly321=)
c.4167A= (p.Gly1389=)
c.498-6575T=
c.1294-6575T= (n.1294-6575T=)
c.3453A= (p.Gly1151=)
c.4158A= (p.Gly1386=)
c.2913A= (p.Gly971=)
c.1585-2218T= (n.1585-2218T=)
21g.45505187A>CCA512687242COL18A1,SLC19A1c.3462A>C (p.Gly1154=)
c.2922A>C (p.Gly974=)
c.963A>C (p.Gly321=)
c.4167A>C (p.Gly1389=)
c.498-6575T>G
c.1294-6575T>G (n.1294-6575T>G)
c.3453A>C (p.Gly1151=)
c.4158A>C (p.Gly1386=)
c.2913A>C (p.Gly971=)
c.1585-2218T>G (n.1585-2218T>G)
21g.45505187A>GCA512687243COL18A1,SLC19A1c.3462A>G (p.Gly1154=)
c.2922A>G (p.Gly974=)
c.963A>G (p.Gly321=)
c.4167A>G (p.Gly1389=)
c.498-6575T>C
c.1294-6575T>C (n.1294-6575T>C)
c.3453A>G (p.Gly1151=)
c.4158A>G (p.Gly1386=)
c.2913A>G (p.Gly971=)
c.1585-2218T>C (n.1585-2218T>C)
21g.45505187A>TCA512687244COL18A1,SLC19A1c.3462A>T (p.Gly1154=)
c.2922A>T (p.Gly974=)
c.963A>T (p.Gly321=)
c.4167A>T (p.Gly1389=)
c.498-6575T>A
c.1294-6575T>A (n.1294-6575T>A)
c.3453A>T (p.Gly1151=)
c.4158A>T (p.Gly1386=)
c.2913A>T (p.Gly971=)
c.1585-2218T>A (n.1585-2218T>A)
 dbSNP gnomAD v2 gnomAD v4
21g.45505187_45505188delinsACCA2392191223COL18A1,SLC19A1c.3462_3463delinsAC (p.Gly1154=)
c.2922_2923delinsAC (p.Gly974=)
c.963_964delinsAC (p.Gly321=)
c.4167_4168delinsAC (p.Gly1389=)
c.498-6576_498-6575delinsGT
c.1294-6576_1294-6575delinsGT (n.1294-6576_1294-6575delinsGT)
c.3453_3454delinsAC (p.Gly1151=)
c.4158_4159delinsAC (p.Gly1386=)
c.2913_2914delinsAC (p.Gly971=)
c.1585-2219_1585-2218delinsGT (n.1585-2219_1585-2218delinsGT)
21g.45505187_45505239delinsACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCCCA2392191225COL18A1,SLC19A1c.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)
21g.45505188C>ACA10067554COL18A1,SLC19A1c.3463C>A (p.Pro1155Thr)
c.2923C>A (p.Pro975Thr)
c.964C>A (p.Pro322Thr)
c.4168C>A (p.Pro1390Thr)
c.498-6576G>T
c.1294-6576G>T (n.1294-6576G>T)
c.3454C>A (p.Pro1152Thr)
c.4159C>A (p.Pro1387Thr)
c.2914C>A (p.Pro972Thr)
c.1585-2219G>T (n.1585-2219G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505188C=CA2392191227COL18A1,SLC19A1c.3463C= (p.Pro1155=)
c.2923C= (p.Pro975=)
c.964C= (p.Pro322=)
c.4168C= (p.Pro1390=)
c.498-6576G=
c.1294-6576G= (n.1294-6576G=)
c.3454C= (p.Pro1152=)
c.4159C= (p.Pro1387=)
c.2914C= (p.Pro972=)
c.1585-2219G= (n.1585-2219G=)
21g.45505188C>GCA410499476COL18A1,SLC19A1c.3463C>G (p.Pro1155Ala)
c.2923C>G (p.Pro975Ala)
c.964C>G (p.Pro322Ala)
c.4168C>G (p.Pro1390Ala)
c.498-6576G>C
c.1294-6576G>C (n.1294-6576G>C)
c.3454C>G (p.Pro1152Ala)
c.4159C>G (p.Pro1387Ala)
c.2914C>G (p.Pro972Ala)
c.1585-2219G>C (n.1585-2219G>C)
 dbSNP gnomAD v2 gnomAD v4
21g.45505188C>TCA10067555COL18A1,SLC19A1c.3463C>T (p.Pro1155Ser)
c.2923C>T (p.Pro975Ser)
c.964C>T (p.Pro322Ser)
c.4168C>T (p.Pro1390Ser)
c.498-6576G>A
c.1294-6576G>A (n.1294-6576G>A)
c.3454C>T (p.Pro1152Ser)
c.4159C>T (p.Pro1387Ser)
c.2914C>T (p.Pro972Ser)
c.1585-2219G>A (n.1585-2219G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505193dupCA10067553COL18A1,SLC19A1c.3468dup (p.Gly1157ArgfsTer?)
c.2928dup (p.Gly977ArgfsTer?)
c.969dup (p.Gly324ArgfsTer?)
c.4173dup (p.Gly1392ArgfsTer?)
c.498-6576dup
c.1294-6576dup (n.1294-6576dup)
c.3459dup (p.Gly1154ArgfsTer?)
c.4164dup (p.Gly1389ArgfsTer?)
c.2919dup (p.Gly974ArgfsTer?)
c.1585-2219dup (n.1585-2219dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505193delCA10067552COL18A1,SLC19A1c.3468del (p.Gly1157AlafsTer?)
c.2928del (p.Gly977AlafsTer?)
c.969del (p.Gly324AlafsTer?)
c.4173del (p.Gly1392AlafsTer?)
c.498-6576del
c.1294-6576del (n.1294-6576del)
c.3459del (p.Gly1154AlafsTer?)
c.4164del (p.Gly1389AlafsTer?)
c.2919del (p.Gly974AlafsTer?)
c.1585-2219del (n.1585-2219del)
 dbSNP ExAC gnomAD v2 gnomAD v4
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.45505189C>ACA10067556COL18A1,SLC19A1c.3464C>A (p.Pro1155His)
c.2924C>A (p.Pro975His)
c.965C>A (p.Pro322His)
c.4169C>A (p.Pro1390His)
c.498-6577G>T
c.1294-6577G>T (n.1294-6577G>T)
c.3455C>A (p.Pro1152His)
c.4160C>A (p.Pro1387His)
c.2915C>A (p.Pro972His)
c.1585-2220G>T (n.1585-2220G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45505189C=CA2392191228COL18A1,SLC19A1c.3464C= (p.Pro1155=)
c.2924C= (p.Pro975=)
c.965C= (p.Pro322=)
c.4169C= (p.Pro1390=)
c.498-6577G=
c.1294-6577G= (n.1294-6577G=)
c.3455C= (p.Pro1152=)
c.4160C= (p.Pro1387=)
c.2915C= (p.Pro972=)
c.1585-2220G= (n.1585-2220G=)
21g.45505189C>GCA410499477COL18A1,SLC19A1c.3464C>G (p.Pro1155Arg)
c.2924C>G (p.Pro975Arg)
c.965C>G (p.Pro322Arg)
c.4169C>G (p.Pro1390Arg)
c.498-6577G>C
c.1294-6577G>C (n.1294-6577G>C)
c.3455C>G (p.Pro1152Arg)
c.4160C>G (p.Pro1387Arg)
c.2915C>G (p.Pro972Arg)
c.1585-2220G>C (n.1585-2220G>C)
21g.45505189C>TCA410499478COL18A1,SLC19A1c.3464C>T (p.Pro1155Leu)
c.2924C>T (p.Pro975Leu)
c.965C>T (p.Pro322Leu)
c.4169C>T (p.Pro1390Leu)
c.498-6577G>A
c.1294-6577G>A (n.1294-6577G>A)
c.3455C>T (p.Pro1152Leu)
c.4160C>T (p.Pro1387Leu)
c.2915C>T (p.Pro972Leu)
c.1585-2220G>A (n.1585-2220G>A)
21g.45505190C>ACA512687245COL18A1,SLC19A1c.3465C>A (p.Pro1155=)
c.2925C>A (p.Pro975=)
c.966C>A (p.Pro322=)
c.4170C>A (p.Pro1390=)
c.498-6578G>T
c.1294-6578G>T (n.1294-6578G>T)
c.3456C>A (p.Pro1152=)
c.4161C>A (p.Pro1387=)
c.2916C>A (p.Pro972=)
c.1585-2221G>T (n.1585-2221G>T)
21g.45505190C=CA2392191230COL18A1,SLC19A1c.3465C= (p.Pro1155=)
c.2925C= (p.Pro975=)
c.966C= (p.Pro322=)
c.4170C= (p.Pro1390=)
c.498-6578G=
c.1294-6578G= (n.1294-6578G=)
c.3456C= (p.Pro1152=)
c.4161C= (p.Pro1387=)
c.2916C= (p.Pro972=)
c.1585-2221G= (n.1585-2221G=)
21g.45505190C>GCA512687246COL18A1,SLC19A1c.3465C>G (p.Pro1155=)
c.2925C>G (p.Pro975=)
c.966C>G (p.Pro322=)
c.4170C>G (p.Pro1390=)
c.498-6578G>C
c.1294-6578G>C (n.1294-6578G>C)
c.3456C>G (p.Pro1152=)
c.4161C>G (p.Pro1387=)
c.2916C>G (p.Pro972=)
c.1585-2221G>C (n.1585-2221G>C)
21g.45505190C>TCA512687247COL18A1,SLC19A1c.3465C>T (p.Pro1155=)
c.2925C>T (p.Pro975=)
c.966C>T (p.Pro322=)
c.4170C>T (p.Pro1390=)
c.498-6578G>A
c.1294-6578G>A (n.1294-6578G>A)
c.3456C>T (p.Pro1152=)
c.4161C>T (p.Pro1387=)
c.2916C>T (p.Pro972=)
c.1585-2221G>A (n.1585-2221G>A)
 dbSNP gnomAD v2 gnomAD v4
21g.45505190_45505223delinsCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCA2392191229COL18A1,SLC19A1c.3465_3498delinsCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Pro1155=)
c.2925_2958delinsCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Pro975=)
c.966_999delinsCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Pro322=)
c.4170_4203delinsCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Pro1390=)
c.498-6611_498-6578delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGG
c.1294-6611_1294-6578delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGG (n.1294-6611_1294-6578delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGG)
c.3456_3489delinsCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Pro1152=)
c.4161_4194delinsCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Pro1387=)
c.2916_2949delinsCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Pro972=)
c.1585-2254_1585-2221delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGG (n.1585-2254_1585-2221delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGG)
21g.45505191C>ACA410499480COL18A1,SLC19A1c.3466C>A (p.Pro1156Thr)
c.2926C>A (p.Pro976Thr)
c.967C>A (p.Pro323Thr)
c.4171C>A (p.Pro1391Thr)
c.498-6579G>T
c.1294-6579G>T (n.1294-6579G>T)
c.3457C>A (p.Pro1153Thr)
c.4162C>A (p.Pro1388Thr)
c.2917C>A (p.Pro973Thr)
c.1585-2222G>T (n.1585-2222G>T)
21g.45505191C=CA2392191231COL18A1,SLC19A1c.3466C= (p.Pro1156=)
c.2926C= (p.Pro976=)
c.967C= (p.Pro323=)
c.4171C= (p.Pro1391=)
c.498-6579G=
c.1294-6579G= (n.1294-6579G=)
c.3457C= (p.Pro1153=)
c.4162C= (p.Pro1388=)
c.2917C= (p.Pro973=)
c.1585-2222G= (n.1585-2222G=)
21g.45505191C>GCA410499481COL18A1,SLC19A1c.3466C>G (p.Pro1156Ala)
c.2926C>G (p.Pro976Ala)
c.967C>G (p.Pro323Ala)
c.4171C>G (p.Pro1391Ala)
c.498-6579G>C
c.1294-6579G>C (n.1294-6579G>C)
c.3457C>G (p.Pro1153Ala)
c.4162C>G (p.Pro1388Ala)
c.2917C>G (p.Pro973Ala)
c.1585-2222G>C (n.1585-2222G>C)
 gnomAD v4
21g.45505191C>TCA410499479COL18A1,SLC19A1c.3466C>T (p.Pro1156Ser)
c.2926C>T (p.Pro976Ser)
c.967C>T (p.Pro323Ser)
c.4171C>T (p.Pro1391Ser)
c.498-6579G>A
c.1294-6579G>A (n.1294-6579G>A)
c.3457C>T (p.Pro1153Ser)
c.4162C>T (p.Pro1388Ser)
c.2917C>T (p.Pro973Ser)
c.1585-2222G>A (n.1585-2222G>A)
 ClinVar dbSNP gnomAD v4
21g.45505197_45505229delCA10067557COL18A1,SLC19A1c.3472_3504del (p.Ile1158_Gly1168del)
c.2932_2964del (p.Ile978_Gly988del)
c.973_1005del (p.Ile325_Gly335del)
c.4177_4209del (p.Ile1393_Gly1403del)
c.498-6611_498-6579del
c.1294-6611_1294-6579del (n.1294-6611_1294-6579del)
c.3463_3495del (p.Ile1155_Gly1165del)
c.4168_4200del (p.Ile1390_Gly1400del)
c.2923_2955del (p.Ile975_Gly985del)
c.1585-2254_1585-2222del (n.1585-2254_1585-2222del)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
21g.45505192C>ACA410499482COL18A1,SLC19A1c.3467C>A (p.Pro1156His)
c.2927C>A (p.Pro976His)
c.968C>A (p.Pro323His)
c.4172C>A (p.Pro1391His)
c.498-6580G>T
c.1294-6580G>T (n.1294-6580G>T)
c.3458C>A (p.Pro1153His)
c.4163C>A (p.Pro1388His)
c.2918C>A (p.Pro973His)
c.1585-2223G>T (n.1585-2223G>T)
21g.45505192C=CA2392191232COL18A1,SLC19A1c.3467C= (p.Pro1156=)
c.2927C= (p.Pro976=)
c.968C= (p.Pro323=)
c.4172C= (p.Pro1391=)
c.498-6580G=
c.1294-6580G= (n.1294-6580G=)
c.3458C= (p.Pro1153=)
c.4163C= (p.Pro1388=)
c.2918C= (p.Pro973=)
c.1585-2223G= (n.1585-2223G=)
21g.45505192C>GCA410499483COL18A1,SLC19A1c.3467C>G (p.Pro1156Arg)
c.2927C>G (p.Pro976Arg)
c.968C>G (p.Pro323Arg)
c.4172C>G (p.Pro1391Arg)
c.498-6580G>C
c.1294-6580G>C (n.1294-6580G>C)
c.3458C>G (p.Pro1153Arg)
c.4163C>G (p.Pro1388Arg)
c.2918C>G (p.Pro973Arg)
c.1585-2223G>C (n.1585-2223G>C)
21g.45505192C>TCA410499484COL18A1,SLC19A1c.3467C>T (p.Pro1156Leu)
c.2927C>T (p.Pro976Leu)
c.968C>T (p.Pro323Leu)
c.4172C>T (p.Pro1391Leu)
c.498-6580G>A
c.1294-6580G>A (n.1294-6580G>A)
c.3458C>T (p.Pro1153Leu)
c.4163C>T (p.Pro1388Leu)
c.2918C>T (p.Pro973Leu)
c.1585-2223G>A (n.1585-2223G>A)
 dbSNP gnomAD v2 gnomAD v4
21g.45505193C>ACA512687248COL18A1,SLC19A1c.3468C>A (p.Pro1156=)
c.2928C>A (p.Pro976=)
c.969C>A (p.Pro323=)
c.4173C>A (p.Pro1391=)
c.498-6581G>T
c.1294-6581G>T (n.1294-6581G>T)
c.3459C>A (p.Pro1153=)
c.4164C>A (p.Pro1388=)
c.2919C>A (p.Pro973=)
c.1585-2224G>T (n.1585-2224G>T)
 gnomAD v4
21g.45505193C=CA2392191233COL18A1,SLC19A1c.3468C= (p.Pro1156=)
c.2928C= (p.Pro976=)
c.969C= (p.Pro323=)
c.4173C= (p.Pro1391=)
c.498-6581G=
c.1294-6581G= (n.1294-6581G=)
c.3459C= (p.Pro1153=)
c.4164C= (p.Pro1388=)
c.2919C= (p.Pro973=)
c.1585-2224G= (n.1585-2224G=)
21g.45505193C>GCA512687249COL18A1,SLC19A1c.3468C>G (p.Pro1156=)
c.2928C>G (p.Pro976=)
c.969C>G (p.Pro323=)
c.4173C>G (p.Pro1391=)
c.498-6581G>C
c.1294-6581G>C (n.1294-6581G>C)
c.3459C>G (p.Pro1153=)
c.4164C>G (p.Pro1388=)
c.2919C>G (p.Pro973=)
c.1585-2224G>C (n.1585-2224G>C)
21g.45505193C>TCA10067558COL18A1,SLC19A1c.3468C>T (p.Pro1156=)
c.2928C>T (p.Pro976=)
c.969C>T (p.Pro323=)
c.4173C>T (p.Pro1391=)
c.498-6581G>A
c.1294-6581G>A (n.1294-6581G>A)
c.3459C>T (p.Pro1153=)
c.4164C>T (p.Pro1388=)
c.2919C>T (p.Pro973=)
c.1585-2224G>A (n.1585-2224G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505194G>ACA10067559COL18A1,SLC19A1c.3469G>A (p.Gly1157Ser)
c.2929G>A (p.Gly977Ser)
c.970G>A (p.Gly324Ser)
c.4174G>A (p.Gly1392Ser)
c.498-6582C>T
c.1294-6582C>T (n.1294-6582C>T)
c.3460G>A (p.Gly1154Ser)
c.4165G>A (p.Gly1389Ser)
c.2920G>A (p.Gly974Ser)
c.1585-2225C>T (n.1585-2225C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505194G>CCA410499485COL18A1,SLC19A1c.3469G>C (p.Gly1157Arg)
c.2929G>C (p.Gly977Arg)
c.970G>C (p.Gly324Arg)
c.4174G>C (p.Gly1392Arg)
c.498-6582C>G
c.1294-6582C>G (n.1294-6582C>G)
c.3460G>C (p.Gly1154Arg)
c.4165G>C (p.Gly1389Arg)
c.2920G>C (p.Gly974Arg)
c.1585-2225C>G (n.1585-2225C>G)
21g.45505194G=CA2392191234COL18A1,SLC19A1c.3469G= (p.Gly1157=)
c.2929G= (p.Gly977=)
c.970G= (p.Gly324=)
c.4174G= (p.Gly1392=)
c.498-6582C=
c.1294-6582C= (n.1294-6582C=)
c.3460G= (p.Gly1154=)
c.4165G= (p.Gly1389=)
c.2920G= (p.Gly974=)
c.1585-2225C= (n.1585-2225C=)
21g.45505194G>TCA410499486COL18A1,SLC19A1c.3469G>T (p.Gly1157Cys)
c.2929G>T (p.Gly977Cys)
c.970G>T (p.Gly324Cys)
c.4174G>T (p.Gly1392Cys)
c.498-6582C>A
c.1294-6582C>A (n.1294-6582C>A)
c.3460G>T (p.Gly1154Cys)
c.4165G>T (p.Gly1389Cys)
c.2920G>T (p.Gly974Cys)
c.1585-2225C>A (n.1585-2225C>A)
 gnomAD v4
21g.45505195dupCA2573334925COL18A1,SLC19A1c.3470dup (p.Ile1158HisfsTer?)
c.2930dup (p.Ile978HisfsTer?)
c.971dup (p.Ile325HisfsTer?)
c.4175dup (p.Ile1393HisfsTer?)
c.498-6582dup
c.1294-6582dup (n.1294-6582dup)
c.3461dup (p.Ile1155HisfsTer?)
c.4166dup (p.Ile1390HisfsTer?)
c.2921dup (p.Ile975HisfsTer?)
c.1585-2225dup (n.1585-2225dup)
21g.45505195G>ACA410499487COL18A1,SLC19A1c.3470G>A (p.Gly1157Asp)
c.2930G>A (p.Gly977Asp)
c.971G>A (p.Gly324Asp)
c.4175G>A (p.Gly1392Asp)
c.498-6583C>T
c.1294-6583C>T (n.1294-6583C>T)
c.3461G>A (p.Gly1154Asp)
c.4166G>A (p.Gly1389Asp)
c.2921G>A (p.Gly974Asp)
c.1585-2226C>T (n.1585-2226C>T)
 dbSNP gnomAD v4
21g.45505195G>CCA410499488COL18A1,SLC19A1c.3470G>C (p.Gly1157Ala)
c.2930G>C (p.Gly977Ala)
c.971G>C (p.Gly324Ala)
c.4175G>C (p.Gly1392Ala)
c.498-6583C>G
c.1294-6583C>G (n.1294-6583C>G)
c.3461G>C (p.Gly1154Ala)
c.4166G>C (p.Gly1389Ala)
c.2921G>C (p.Gly974Ala)
c.1585-2226C>G (n.1585-2226C>G)
21g.45505195G=CA2392191235COL18A1,SLC19A1c.3470G= (p.Gly1157=)
c.2930G= (p.Gly977=)
c.971G= (p.Gly324=)
c.4175G= (p.Gly1392=)
c.498-6583C=
c.1294-6583C= (n.1294-6583C=)
c.3461G= (p.Gly1154=)
c.4166G= (p.Gly1389=)
c.2921G= (p.Gly974=)
c.1585-2226C= (n.1585-2226C=)
21g.45505195G>TCA410499489COL18A1,SLC19A1c.3470G>T (p.Gly1157Val)
c.2930G>T (p.Gly977Val)
c.971G>T (p.Gly324Val)
c.4175G>T (p.Gly1392Val)
c.498-6583C>A
c.1294-6583C>A (n.1294-6583C>A)
c.3461G>T (p.Gly1154Val)
c.4166G>T (p.Gly1389Val)
c.2921G>T (p.Gly974Val)
c.1585-2226C>A (n.1585-2226C>A)
21g.45505196C>ACA512687250COL18A1,SLC19A1c.3471C>A (p.Gly1157=)
c.2931C>A (p.Gly977=)
c.972C>A (p.Gly324=)
c.4176C>A (p.Gly1392=)
c.498-6584G>T
c.1294-6584G>T (n.1294-6584G>T)
c.3462C>A (p.Gly1154=)
c.4167C>A (p.Gly1389=)
c.2922C>A (p.Gly974=)
c.1585-2227G>T (n.1585-2227G>T)
 gnomAD v4
21g.45505196C=CA2392191236COL18A1,SLC19A1c.3471C= (p.Gly1157=)
c.2931C= (p.Gly977=)
c.972C= (p.Gly324=)
c.4176C= (p.Gly1392=)
c.498-6584G=
c.1294-6584G= (n.1294-6584G=)
c.3462C= (p.Gly1154=)
c.4167C= (p.Gly1389=)
c.2922C= (p.Gly974=)
c.1585-2227G= (n.1585-2227G=)
21g.45505196C>GCA512687251COL18A1,SLC19A1c.3471C>G (p.Gly1157=)
c.2931C>G (p.Gly977=)
c.972C>G (p.Gly324=)
c.4176C>G (p.Gly1392=)
c.498-6584G>C
c.1294-6584G>C (n.1294-6584G>C)
c.3462C>G (p.Gly1154=)
c.4167C>G (p.Gly1389=)
c.2922C>G (p.Gly974=)
c.1585-2227G>C (n.1585-2227G>C)
21g.45505196C>TCA512687252COL18A1,SLC19A1c.3471C>T (p.Gly1157=)
c.2931C>T (p.Gly977=)
c.972C>T (p.Gly324=)
c.4176C>T (p.Gly1392=)
c.498-6584G>A
c.1294-6584G>A (n.1294-6584G>A)
c.3462C>T (p.Gly1154=)
c.4167C>T (p.Gly1389=)
c.2922C>T (p.Gly974=)
c.1585-2227G>A (n.1585-2227G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45505196dupCA1139666920COL18A1,SLC19A1c.3471dup (p.Ile1158HisfsTer?)
c.2931dup (p.Ile978HisfsTer?)
c.972dup (p.Ile325HisfsTer?)
c.4176dup (p.Ile1393HisfsTer?)
c.498-6584dup
c.1294-6584dup (n.1294-6584dup)
c.3462dup (p.Ile1155HisfsTer?)
c.4167dup (p.Ile1390HisfsTer?)
c.2922dup (p.Ile975HisfsTer?)
c.1585-2227dup (n.1585-2227dup)
 ClinVar dbSNP
21g.45505197A=CA2392191237COL18A1,SLC19A1c.3472A= (p.Ile1158=)
c.2932A= (p.Ile978=)
c.973A= (p.Ile325=)
c.4177A= (p.Ile1393=)
c.498-6585T=
c.1294-6585T= (n.1294-6585T=)
c.3463A= (p.Ile1155=)
c.4168A= (p.Ile1390=)
c.2923A= (p.Ile975=)
c.1585-2228T= (n.1585-2228T=)
21g.45505197A>CCA410499490COL18A1,SLC19A1c.3472A>C (p.Ile1158Leu)
c.2932A>C (p.Ile978Leu)
c.973A>C (p.Ile325Leu)
c.4177A>C (p.Ile1393Leu)
c.498-6585T>G
c.1294-6585T>G (n.1294-6585T>G)
c.3463A>C (p.Ile1155Leu)
c.4168A>C (p.Ile1390Leu)
c.2923A>C (p.Ile975Leu)
c.1585-2228T>G (n.1585-2228T>G)
21g.45505197A>GCA410499491COL18A1,SLC19A1c.3472A>G (p.Ile1158Val)
c.2932A>G (p.Ile978Val)
c.973A>G (p.Ile325Val)
c.4177A>G (p.Ile1393Val)
c.498-6585T>C
c.1294-6585T>C (n.1294-6585T>C)
c.3463A>G (p.Ile1155Val)
c.4168A>G (p.Ile1390Val)
c.2923A>G (p.Ile975Val)
c.1585-2228T>C (n.1585-2228T>C)
 dbSNP gnomAD v4
21g.45505197A>TCA410499492COL18A1,SLC19A1c.3472A>T (p.Ile1158Phe)
c.2932A>T (p.Ile978Phe)
c.973A>T (p.Ile325Phe)
c.4177A>T (p.Ile1393Phe)
c.498-6585T>A
c.1294-6585T>A (n.1294-6585T>A)
c.3463A>T (p.Ile1155Phe)
c.4168A>T (p.Ile1390Phe)
c.2923A>T (p.Ile975Phe)
c.1585-2228T>A (n.1585-2228T>A)
21g.45505198T>ACA410499495COL18A1,SLC19A1c.3473T>A (p.Ile1158Asn)
c.2933T>A (p.Ile978Asn)
c.974T>A (p.Ile325Asn)
c.4178T>A (p.Ile1393Asn)
c.498-6586A>T
c.1294-6586A>T (n.1294-6586A>T)
c.3464T>A (p.Ile1155Asn)
c.4169T>A (p.Ile1390Asn)
c.2924T>A (p.Ile975Asn)
c.1585-2229A>T (n.1585-2229A>T)
21g.45505198T>CCA410499494COL18A1,SLC19A1c.3473T>C (p.Ile1158Thr)
c.2933T>C (p.Ile978Thr)
c.974T>C (p.Ile325Thr)
c.4178T>C (p.Ile1393Thr)
c.498-6586A>G
c.1294-6586A>G (n.1294-6586A>G)
c.3464T>C (p.Ile1155Thr)
c.4169T>C (p.Ile1390Thr)
c.2924T>C (p.Ile975Thr)
c.1585-2229A>G (n.1585-2229A>G)
 dbSNP
21g.45505198T>GCA410499493COL18A1,SLC19A1c.3473T>G (p.Ile1158Ser)
c.2933T>G (p.Ile978Ser)
c.974T>G (p.Ile325Ser)
c.4178T>G (p.Ile1393Ser)
c.498-6586A>C
c.1294-6586A>C (n.1294-6586A>C)
c.3464T>G (p.Ile1155Ser)
c.4169T>G (p.Ile1390Ser)
c.2924T>G (p.Ile975Ser)
c.1585-2229A>C (n.1585-2229A>C)
21g.45505198T=CA2392191238COL18A1,SLC19A1c.3473T= (p.Ile1158=)
c.2933T= (p.Ile978=)
c.974T= (p.Ile325=)
c.4178T= (p.Ile1393=)
c.498-6586A=
c.1294-6586A= (n.1294-6586A=)
c.3464T= (p.Ile1155=)
c.4169T= (p.Ile1390=)
c.2924T= (p.Ile975=)
c.1585-2229A= (n.1585-2229A=)
21g.45505199C>ACA512687253COL18A1,SLC19A1c.3474C>A (p.Ile1158=)
c.2934C>A (p.Ile978=)
c.975C>A (p.Ile325=)
c.4179C>A (p.Ile1393=)
c.498-6587G>T
c.1294-6587G>T (n.1294-6587G>T)
c.3465C>A (p.Ile1155=)
c.4170C>A (p.Ile1390=)
c.2925C>A (p.Ile975=)
c.1585-2230G>T (n.1585-2230G>T)
 gnomAD v4
21g.45505199C=CA2392191239COL18A1,SLC19A1c.3474C= (p.Ile1158=)
c.2934C= (p.Ile978=)
c.975C= (p.Ile325=)
c.4179C= (p.Ile1393=)
c.498-6587G=
c.1294-6587G= (n.1294-6587G=)
c.3465C= (p.Ile1155=)
c.4170C= (p.Ile1390=)
c.2925C= (p.Ile975=)
c.1585-2230G= (n.1585-2230G=)
21g.45505199C>GCA410499496COL18A1,SLC19A1c.3474C>G (p.Ile1158Met)
c.2934C>G (p.Ile978Met)
c.975C>G (p.Ile325Met)
c.4179C>G (p.Ile1393Met)
c.498-6587G>C
c.1294-6587G>C (n.1294-6587G>C)
c.3465C>G (p.Ile1155Met)
c.4170C>G (p.Ile1390Met)
c.2925C>G (p.Ile975Met)
c.1585-2230G>C (n.1585-2230G>C)
21g.45505199C>TCA10067560COL18A1,SLC19A1c.3474C>T (p.Ile1158=)
c.2934C>T (p.Ile978=)
c.975C>T (p.Ile325=)
c.4179C>T (p.Ile1393=)
c.498-6587G>A
c.1294-6587G>A (n.1294-6587G>A)
c.3465C>T (p.Ile1155=)
c.4170C>T (p.Ile1390=)
c.2925C>T (p.Ile975=)
c.1585-2230G>A (n.1585-2230G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.45505200G>ACA10067561COL18A1,SLC19A1c.3475G>A (p.Gly1159Ser)
c.2935G>A (p.Gly979Ser)
c.976G>A (p.Gly326Ser)
c.4180G>A (p.Gly1394Ser)
c.498-6588C>T
c.1294-6588C>T (n.1294-6588C>T)
c.3466G>A (p.Gly1156Ser)
c.4171G>A (p.Gly1391Ser)
c.2926G>A (p.Gly976Ser)
c.1585-2231C>T (n.1585-2231C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505200G>CCA410499497COL18A1,SLC19A1c.3475G>C (p.Gly1159Arg)
c.2935G>C (p.Gly979Arg)
c.976G>C (p.Gly326Arg)
c.4180G>C (p.Gly1394Arg)
c.498-6588C>G
c.1294-6588C>G (n.1294-6588C>G)
c.3466G>C (p.Gly1156Arg)
c.4171G>C (p.Gly1391Arg)
c.2926G>C (p.Gly976Arg)
c.1585-2231C>G (n.1585-2231C>G)
21g.45505200G=CA2392191240COL18A1,SLC19A1c.3475G= (p.Gly1159=)
c.2935G= (p.Gly979=)
c.976G= (p.Gly326=)
c.4180G= (p.Gly1394=)
c.498-6588C=
c.1294-6588C= (n.1294-6588C=)
c.3466G= (p.Gly1156=)
c.4171G= (p.Gly1391=)
c.2926G= (p.Gly976=)
c.1585-2231C= (n.1585-2231C=)
21g.45505200G>TCA410499498COL18A1,SLC19A1c.3475G>T (p.Gly1159Cys)
c.2935G>T (p.Gly979Cys)
c.976G>T (p.Gly326Cys)
c.4180G>T (p.Gly1394Cys)
c.498-6588C>A
c.1294-6588C>A (n.1294-6588C>A)
c.3466G>T (p.Gly1156Cys)
c.4171G>T (p.Gly1391Cys)
c.2926G>T (p.Gly976Cys)
c.1585-2231C>A (n.1585-2231C>A)
21g.45505201G>ACA410499499COL18A1,SLC19A1c.3476G>A (p.Gly1159Asp)
c.2936G>A (p.Gly979Asp)
c.977G>A (p.Gly326Asp)
c.4181G>A (p.Gly1394Asp)
c.498-6589C>T
c.1294-6589C>T (n.1294-6589C>T)
c.3467G>A (p.Gly1156Asp)
c.4172G>A (p.Gly1391Asp)
c.2927G>A (p.Gly976Asp)
c.1585-2232C>T (n.1585-2232C>T)
21g.45505201G>CCA410499500COL18A1,SLC19A1c.3476G>C (p.Gly1159Ala)
c.2936G>C (p.Gly979Ala)
c.977G>C (p.Gly326Ala)
c.4181G>C (p.Gly1394Ala)
c.498-6589C>G
c.1294-6589C>G (n.1294-6589C>G)
c.3467G>C (p.Gly1156Ala)
c.4172G>C (p.Gly1391Ala)
c.2927G>C (p.Gly976Ala)
c.1585-2232C>G (n.1585-2232C>G)
21g.45505201G>TCA410499501COL18A1,SLC19A1c.3476G>T (p.Gly1159Val)
c.2936G>T (p.Gly979Val)
c.977G>T (p.Gly326Val)
c.4181G>T (p.Gly1394Val)
c.498-6589C>A
c.1294-6589C>A (n.1294-6589C>A)
c.3467G>T (p.Gly1156Val)
c.4172G>T (p.Gly1391Val)
c.2927G>T (p.Gly976Val)
c.1585-2232C>A (n.1585-2232C>A)
21g.45505202C>ACA512687254COL18A1,SLC19A1c.3477C>A (p.Gly1159=)
c.2937C>A (p.Gly979=)
c.978C>A (p.Gly326=)
c.4182C>A (p.Gly1394=)
c.498-6590G>T
c.1294-6590G>T (n.1294-6590G>T)
c.3468C>A (p.Gly1156=)
c.4173C>A (p.Gly1391=)
c.2928C>A (p.Gly976=)
c.1585-2233G>T (n.1585-2233G>T)
21g.45505202C=CA2392191241COL18A1,SLC19A1c.3477C= (p.Gly1159=)
c.2937C= (p.Gly979=)
c.978C= (p.Gly326=)
c.4182C= (p.Gly1394=)
c.498-6590G=
c.1294-6590G= (n.1294-6590G=)
c.3468C= (p.Gly1156=)
c.4173C= (p.Gly1391=)
c.2928C= (p.Gly976=)
c.1585-2233G= (n.1585-2233G=)
21g.45505202C>GCA10067562COL18A1,SLC19A1c.3477C>G (p.Gly1159=)
c.2937C>G (p.Gly979=)
c.978C>G (p.Gly326=)
c.4182C>G (p.Gly1394=)
c.498-6590G>C
c.1294-6590G>C (n.1294-6590G>C)
c.3468C>G (p.Gly1156=)
c.4173C>G (p.Gly1391=)
c.2928C>G (p.Gly976=)
c.1585-2233G>C (n.1585-2233G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505202C>TCA512687255COL18A1,SLC19A1c.3477C>T (p.Gly1159=)
c.2937C>T (p.Gly979=)
c.978C>T (p.Gly326=)
c.4182C>T (p.Gly1394=)
c.498-6590G>A
c.1294-6590G>A (n.1294-6590G>A)
c.3468C>T (p.Gly1156=)
c.4173C>T (p.Gly1391=)
c.2928C>T (p.Gly976=)
c.1585-2233G>A (n.1585-2233G>A)
 gnomAD v4
21g.45505203T>ACA410499502COL18A1,SLC19A1c.3478T>A (p.Tyr1160Asn)
c.2938T>A (p.Tyr980Asn)
c.979T>A (p.Tyr327Asn)
c.4183T>A (p.Tyr1395Asn)
c.498-6591A>T
c.1294-6591A>T (n.1294-6591A>T)
c.3469T>A (p.Tyr1157Asn)
c.4174T>A (p.Tyr1392Asn)
c.2929T>A (p.Tyr977Asn)
c.1585-2234A>T (n.1585-2234A>T)
21g.45505203T>CCA410499503COL18A1,SLC19A1c.3478T>C (p.Tyr1160His)
c.2938T>C (p.Tyr980His)
c.979T>C (p.Tyr327His)
c.4183T>C (p.Tyr1395His)
c.498-6591A>G
c.1294-6591A>G (n.1294-6591A>G)
c.3469T>C (p.Tyr1157His)
c.4174T>C (p.Tyr1392His)
c.2929T>C (p.Tyr977His)
c.1585-2234A>G (n.1585-2234A>G)
 dbSNP gnomAD v2
21g.45505203T>GCA410499504COL18A1,SLC19A1c.3478T>G (p.Tyr1160Asp)
c.2938T>G (p.Tyr980Asp)
c.979T>G (p.Tyr327Asp)
c.4183T>G (p.Tyr1395Asp)
c.498-6591A>C
c.1294-6591A>C (n.1294-6591A>C)
c.3469T>G (p.Tyr1157Asp)
c.4174T>G (p.Tyr1392Asp)
c.2929T>G (p.Tyr977Asp)
c.1585-2234A>C (n.1585-2234A>C)
 gnomAD v4
21g.45505203T=CA2392191242COL18A1,SLC19A1c.3478T= (p.Tyr1160=)
c.2938T= (p.Tyr980=)
c.979T= (p.Tyr327=)
c.4183T= (p.Tyr1395=)
c.498-6591A=
c.1294-6591A= (n.1294-6591A=)
c.3469T= (p.Tyr1157=)
c.4174T= (p.Tyr1392=)
c.2929T= (p.Tyr977=)
c.1585-2234A= (n.1585-2234A=)
21g.45505204A>CCA410499507COL18A1,SLC19A1c.3479A>C (p.Tyr1160Ser)
c.2939A>C (p.Tyr980Ser)
c.980A>C (p.Tyr327Ser)
c.4184A>C (p.Tyr1395Ser)
c.498-6592T>G
c.1294-6592T>G (n.1294-6592T>G)
c.3470A>C (p.Tyr1157Ser)
c.4175A>C (p.Tyr1392Ser)
c.2930A>C (p.Tyr977Ser)
c.1585-2235T>G (n.1585-2235T>G)
21g.45505204A>GCA410499506COL18A1,SLC19A1c.3479A>G (p.Tyr1160Cys)
c.2939A>G (p.Tyr980Cys)
c.980A>G (p.Tyr327Cys)
c.4184A>G (p.Tyr1395Cys)
c.498-6592T>C
c.1294-6592T>C (n.1294-6592T>C)
c.3470A>G (p.Tyr1157Cys)
c.4175A>G (p.Tyr1392Cys)
c.2930A>G (p.Tyr977Cys)
c.1585-2235T>C (n.1585-2235T>C)
 gnomAD v4
21g.45505204A>TCA410499505COL18A1,SLC19A1c.3479A>T (p.Tyr1160Phe)
c.2939A>T (p.Tyr980Phe)
c.980A>T (p.Tyr327Phe)
c.4184A>T (p.Tyr1395Phe)
c.498-6592T>A
c.1294-6592T>A (n.1294-6592T>A)
c.3470A>T (p.Tyr1157Phe)
c.4175A>T (p.Tyr1392Phe)
c.2930A>T (p.Tyr977Phe)
c.1585-2235T>A (n.1585-2235T>A)
 gnomAD v4
21g.45505205C>ACA410499508COL18A1,SLC19A1c.3480C>A (p.Tyr1160Ter)
c.2940C>A (p.Tyr980Ter)
c.981C>A (p.Tyr327Ter)
c.4185C>A (p.Tyr1395Ter)
c.498-6593G>T
c.1294-6593G>T (n.1294-6593G>T)
c.3471C>A (p.Tyr1157Ter)
c.4176C>A (p.Tyr1392Ter)
c.2931C>A (p.Tyr977Ter)
c.1585-2236G>T (n.1585-2236G>T)
 gnomAD v4
21g.45505205C=CA2392191243COL18A1,SLC19A1c.3480C= (p.Tyr1160=)
c.2940C= (p.Tyr980=)
c.981C= (p.Tyr327=)
c.4185C= (p.Tyr1395=)
c.498-6593G=
c.1294-6593G= (n.1294-6593G=)
c.3471C= (p.Tyr1157=)
c.4176C= (p.Tyr1392=)
c.2931C= (p.Tyr977=)
c.1585-2236G= (n.1585-2236G=)
21g.45505205C>GCA410499509COL18A1,SLC19A1c.3480C>G (p.Tyr1160Ter)
c.2940C>G (p.Tyr980Ter)
c.981C>G (p.Tyr327Ter)
c.4185C>G (p.Tyr1395Ter)
c.498-6593G>C
c.1294-6593G>C (n.1294-6593G>C)
c.3471C>G (p.Tyr1157Ter)
c.4176C>G (p.Tyr1392Ter)
c.2931C>G (p.Tyr977Ter)
c.1585-2236G>C (n.1585-2236G>C)
21g.45505205C>TCA10067563COL18A1,SLC19A1c.3480C>T (p.Tyr1160=)
c.2940C>T (p.Tyr980=)
c.981C>T (p.Tyr327=)
c.4185C>T (p.Tyr1395=)
c.498-6593G>A
c.1294-6593G>A (n.1294-6593G>A)
c.3471C>T (p.Tyr1157=)
c.4176C>T (p.Tyr1392=)
c.2931C>T (p.Tyr977=)
c.1585-2236G>A (n.1585-2236G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505206G>ACA10067564COL18A1,SLC19A1c.3481G>A (p.Glu1161Lys)
c.2941G>A (p.Glu981Lys)
c.982G>A (p.Glu328Lys)
c.4186G>A (p.Glu1396Lys)
c.498-6594C>T
c.1294-6594C>T (n.1294-6594C>T)
c.3472G>A (p.Glu1158Lys)
c.4177G>A (p.Glu1393Lys)
c.2932G>A (p.Glu978Lys)
c.1585-2237C>T (n.1585-2237C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505206G>CCA410499511COL18A1,SLC19A1c.3481G>C (p.Glu1161Gln)
c.2941G>C (p.Glu981Gln)
c.982G>C (p.Glu328Gln)
c.4186G>C (p.Glu1396Gln)
c.498-6594C>G
c.1294-6594C>G (n.1294-6594C>G)
c.3472G>C (p.Glu1158Gln)
c.4177G>C (p.Glu1393Gln)
c.2932G>C (p.Glu978Gln)
c.1585-2237C>G (n.1585-2237C>G)
21g.45505206G=CA2392191244COL18A1,SLC19A1c.3481G= (p.Glu1161=)
c.2941G= (p.Glu981=)
c.982G= (p.Glu328=)
c.4186G= (p.Glu1396=)
c.498-6594C=
c.1294-6594C= (n.1294-6594C=)
c.3472G= (p.Glu1158=)
c.4177G= (p.Glu1393=)
c.2932G= (p.Glu978=)
c.1585-2237C= (n.1585-2237C=)
21g.45505206G>TCA410499510COL18A1,SLC19A1c.3481G>T (p.Glu1161Ter)
c.2941G>T (p.Glu981Ter)
c.982G>T (p.Glu328Ter)
c.4186G>T (p.Glu1396Ter)
c.498-6594C>A
c.1294-6594C>A (n.1294-6594C>A)
c.3472G>T (p.Glu1158Ter)
c.4177G>T (p.Glu1393Ter)
c.2932G>T (p.Glu978Ter)
c.1585-2237C>A (n.1585-2237C>A)
21g.45505207A=CA2392191245COL18A1,SLC19A1c.3482A= (p.Glu1161=)
c.2942A= (p.Glu981=)
c.983A= (p.Glu328=)
c.4187A= (p.Glu1396=)
c.498-6595T=
c.1294-6595T= (n.1294-6595T=)
c.3473A= (p.Glu1158=)
c.4178A= (p.Glu1393=)
c.2933A= (p.Glu978=)
c.1585-2238T= (n.1585-2238T=)
21g.45505207A>CCA410499512COL18A1,SLC19A1c.3482A>C (p.Glu1161Ala)
c.2942A>C (p.Glu981Ala)
c.983A>C (p.Glu328Ala)
c.4187A>C (p.Glu1396Ala)
c.498-6595T>G
c.1294-6595T>G (n.1294-6595T>G)
c.3473A>C (p.Glu1158Ala)
c.4178A>C (p.Glu1393Ala)
c.2933A>C (p.Glu978Ala)
c.1585-2238T>G (n.1585-2238T>G)
21g.45505207A>GCA410499513COL18A1,SLC19A1c.3482A>G (p.Glu1161Gly)
c.2942A>G (p.Glu981Gly)
c.983A>G (p.Glu328Gly)
c.4187A>G (p.Glu1396Gly)
c.498-6595T>C
c.1294-6595T>C (n.1294-6595T>C)
c.3473A>G (p.Glu1158Gly)
c.4178A>G (p.Glu1393Gly)
c.2933A>G (p.Glu978Gly)
c.1585-2238T>C (n.1585-2238T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45505207A>TCA410499514COL18A1,SLC19A1c.3482A>T (p.Glu1161Val)
c.2942A>T (p.Glu981Val)
c.983A>T (p.Glu328Val)
c.4187A>T (p.Glu1396Val)
c.498-6595T>A
c.1294-6595T>A (n.1294-6595T>A)
c.3473A>T (p.Glu1158Val)
c.4178A>T (p.Glu1393Val)
c.2933A>T (p.Glu978Val)
c.1585-2238T>A (n.1585-2238T>A)
21g.45505208G>ACA10067565COL18A1,SLC19A1c.3483G>A (p.Glu1161=)
c.2943G>A (p.Glu981=)
c.984G>A (p.Glu328=)
c.4188G>A (p.Glu1396=)
c.498-6596C>T
c.1294-6596C>T (n.1294-6596C>T)
c.3474G>A (p.Glu1158=)
c.4179G>A (p.Glu1393=)
c.2934G>A (p.Glu978=)
c.1585-2239C>T (n.1585-2239C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505208G>CCA410499515COL18A1,SLC19A1c.3483G>C (p.Glu1161Asp)
c.2943G>C (p.Glu981Asp)
c.984G>C (p.Glu328Asp)
c.4188G>C (p.Glu1396Asp)
c.498-6596C>G
c.1294-6596C>G (n.1294-6596C>G)
c.3474G>C (p.Glu1158Asp)
c.4179G>C (p.Glu1393Asp)
c.2934G>C (p.Glu978Asp)
c.1585-2239C>G (n.1585-2239C>G)
21g.45505208G=CA2392191246COL18A1,SLC19A1c.3483G= (p.Glu1161=)
c.2943G= (p.Glu981=)
c.984G= (p.Glu328=)
c.4188G= (p.Glu1396=)
c.498-6596C=
c.1294-6596C= (n.1294-6596C=)
c.3474G= (p.Glu1158=)
c.4179G= (p.Glu1393=)
c.2934G= (p.Glu978=)
c.1585-2239C= (n.1585-2239C=)
21g.45505208G>TCA410499516COL18A1,SLC19A1c.3483G>T (p.Glu1161Asp)
c.2943G>T (p.Glu981Asp)
c.984G>T (p.Glu328Asp)
c.4188G>T (p.Glu1396Asp)
c.498-6596C>A
c.1294-6596C>A (n.1294-6596C>A)
c.3474G>T (p.Glu1158Asp)
c.4179G>T (p.Glu1393Asp)
c.2934G>T (p.Glu978Asp)
c.1585-2239C>A (n.1585-2239C>A)
 gnomAD v4
21g.45505211dupCA2654919236COL18A1,SLC19A1c.3486dup (p.Arg1163AlafsTer?)
c.2946dup (p.Arg983AlafsTer?)
c.987dup (p.Arg330AlafsTer?)
c.4191dup (p.Arg1398AlafsTer?)
c.498-6596dup
c.1294-6596dup (n.1294-6596dup)
c.3477dup (p.Arg1160AlafsTer?)
c.4182dup (p.Arg1395AlafsTer?)
c.2937dup (p.Arg980AlafsTer?)
c.1585-2239dup (n.1585-2239dup)
 gnomAD v4
21g.45505209G>ACA410499517COL18A1,SLC19A1c.3484G>A (p.Gly1162Arg)
c.2944G>A (p.Gly982Arg)
c.985G>A (p.Gly329Arg)
c.4189G>A (p.Gly1397Arg)
c.498-6597C>T
c.1294-6597C>T (n.1294-6597C>T)
c.3475G>A (p.Gly1159Arg)
c.4180G>A (p.Gly1394Arg)
c.2935G>A (p.Gly979Arg)
c.1585-2240C>T (n.1585-2240C>T)
 gnomAD v4
21g.45505209G>CCA410499518COL18A1,SLC19A1c.3484G>C (p.Gly1162Arg)
c.2944G>C (p.Gly982Arg)
c.985G>C (p.Gly329Arg)
c.4189G>C (p.Gly1397Arg)
c.498-6597C>G
c.1294-6597C>G (n.1294-6597C>G)
c.3475G>C (p.Gly1159Arg)
c.4180G>C (p.Gly1394Arg)
c.2935G>C (p.Gly979Arg)
c.1585-2240C>G (n.1585-2240C>G)
21g.45505209G>TCA410499519COL18A1,SLC19A1c.3484G>T (p.Gly1162Trp)
c.2944G>T (p.Gly982Trp)
c.985G>T (p.Gly329Trp)
c.4189G>T (p.Gly1397Trp)
c.498-6597C>A
c.1294-6597C>A (n.1294-6597C>A)
c.3475G>T (p.Gly1159Trp)
c.4180G>T (p.Gly1394Trp)
c.2935G>T (p.Gly979Trp)
c.1585-2240C>A (n.1585-2240C>A)
21g.45505210G>ACA410499520COL18A1,SLC19A1c.3485G>A (p.Gly1162Glu)
c.2945G>A (p.Gly982Glu)
c.986G>A (p.Gly329Glu)
c.4190G>A (p.Gly1397Glu)
c.498-6598C>T
c.1294-6598C>T (n.1294-6598C>T)
c.3476G>A (p.Gly1159Glu)
c.4181G>A (p.Gly1394Glu)
c.2936G>A (p.Gly979Glu)
c.1585-2241C>T (n.1585-2241C>T)
 dbSNP
21g.45505210G>CCA410499521COL18A1,SLC19A1c.3485G>C (p.Gly1162Ala)
c.2945G>C (p.Gly982Ala)
c.986G>C (p.Gly329Ala)
c.4190G>C (p.Gly1397Ala)
c.498-6598C>G
c.1294-6598C>G (n.1294-6598C>G)
c.3476G>C (p.Gly1159Ala)
c.4181G>C (p.Gly1394Ala)
c.2936G>C (p.Gly979Ala)
c.1585-2241C>G (n.1585-2241C>G)
21g.45505210G=CA2392191247COL18A1,SLC19A1c.3485G= (p.Gly1162=)
c.2945G= (p.Gly982=)
c.986G= (p.Gly329=)
c.4190G= (p.Gly1397=)
c.498-6598C=
c.1294-6598C= (n.1294-6598C=)
c.3476G= (p.Gly1159=)
c.4181G= (p.Gly1394=)
c.2936G= (p.Gly979=)
c.1585-2241C= (n.1585-2241C=)
21g.45505210G>TCA410499522COL18A1,SLC19A1c.3485G>T (p.Gly1162Val)
c.2945G>T (p.Gly982Val)
c.986G>T (p.Gly329Val)
c.4190G>T (p.Gly1397Val)
c.498-6598C>A
c.1294-6598C>A (n.1294-6598C>A)
c.3476G>T (p.Gly1159Val)
c.4181G>T (p.Gly1394Val)
c.2936G>T (p.Gly979Val)
c.1585-2241C>A (n.1585-2241C>A)
21g.45505211G>ACA10067566COL18A1,SLC19A1c.3486G>A (p.Gly1162=)
c.2946G>A (p.Gly982=)
c.987G>A (p.Gly329=)
c.4191G>A (p.Gly1397=)
c.498-6599C>T
c.1294-6599C>T (n.1294-6599C>T)
c.3477G>A (p.Gly1159=)
c.4182G>A (p.Gly1394=)
c.2937G>A (p.Gly979=)
c.1585-2242C>T (n.1585-2242C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45505211G>CCA512687257COL18A1,SLC19A1c.3486G>C (p.Gly1162=)
c.2946G>C (p.Gly982=)
c.987G>C (p.Gly329=)
c.4191G>C (p.Gly1397=)
c.498-6599C>G
c.1294-6599C>G (n.1294-6599C>G)
c.3477G>C (p.Gly1159=)
c.4182G>C (p.Gly1394=)
c.2937G>C (p.Gly979=)
c.1585-2242C>G (n.1585-2242C>G)
21g.45505211G=CA2392191248COL18A1,SLC19A1c.3486G= (p.Gly1162=)
c.2946G= (p.Gly982=)
c.987G= (p.Gly329=)
c.4191G= (p.Gly1397=)
c.498-6599C=
c.1294-6599C= (n.1294-6599C=)
c.3477G= (p.Gly1159=)
c.4182G= (p.Gly1394=)
c.2937G= (p.Gly979=)
c.1585-2242C= (n.1585-2242C=)
21g.45505211G>TCA512687256COL18A1,SLC19A1c.3486G>T (p.Gly1162=)
c.2946G>T (p.Gly982=)
c.987G>T (p.Gly329=)
c.4191G>T (p.Gly1397=)
c.498-6599C>A
c.1294-6599C>A (n.1294-6599C>A)
c.3477G>T (p.Gly1159=)
c.4182G>T (p.Gly1394=)
c.2937G>T (p.Gly979=)
c.1585-2242C>A (n.1585-2242C>A)
21g.45505212C>ACA410499524COL18A1,SLC19A1c.3487C>A (p.Arg1163Ser)
c.2947C>A (p.Arg983Ser)
c.988C>A (p.Arg330Ser)
c.4192C>A (p.Arg1398Ser)
c.498-6600G>T
c.1294-6600G>T (n.1294-6600G>T)
c.3478C>A (p.Arg1160Ser)
c.4183C>A (p.Arg1395Ser)
c.2938C>A (p.Arg980Ser)
c.1585-2243G>T (n.1585-2243G>T)
 gnomAD v4
21g.45505212C=CA2392191249COL18A1,SLC19A1c.3487C= (p.Arg1163=)
c.2947C= (p.Arg983=)
c.988C= (p.Arg330=)
c.4192C= (p.Arg1398=)
c.498-6600G=
c.1294-6600G= (n.1294-6600G=)
c.3478C= (p.Arg1160=)
c.4183C= (p.Arg1395=)
c.2938C= (p.Arg980=)
c.1585-2243G= (n.1585-2243G=)
21g.45505212C>GCA410499523COL18A1,SLC19A1c.3487C>G (p.Arg1163Gly)
c.2947C>G (p.Arg983Gly)
c.988C>G (p.Arg330Gly)
c.4192C>G (p.Arg1398Gly)
c.498-6600G>C
c.1294-6600G>C (n.1294-6600G>C)
c.3478C>G (p.Arg1160Gly)
c.4183C>G (p.Arg1395Gly)
c.2938C>G (p.Arg980Gly)
c.1585-2243G>C (n.1585-2243G>C)
21g.45505212C>TCA10067567COL18A1,SLC19A1c.3487C>T (p.Arg1163Cys)
c.2947C>T (p.Arg983Cys)
c.988C>T (p.Arg330Cys)
c.4192C>T (p.Arg1398Cys)
c.498-6600G>A
c.1294-6600G>A (n.1294-6600G>A)
c.3478C>T (p.Arg1160Cys)
c.4183C>T (p.Arg1395Cys)
c.2938C>T (p.Arg980Cys)
c.1585-2243G>A (n.1585-2243G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505213_45505240delCA2654919265COL18A1,SLC19A1c.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
21g.45505213G>ACA10067568COL18A1,SLC19A1c.3488G>A (p.Arg1163His)
c.2948G>A (p.Arg983His)
c.989G>A (p.Arg330His)
c.4193G>A (p.Arg1398His)
c.498-6601C>T
c.1294-6601C>T (n.1294-6601C>T)
c.3479G>A (p.Arg1160His)
c.4184G>A (p.Arg1395His)
c.2939G>A (p.Arg980His)
c.1585-2244C>T (n.1585-2244C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505213G>CCA410499525COL18A1,SLC19A1c.3488G>C (p.Arg1163Pro)
c.2948G>C (p.Arg983Pro)
c.989G>C (p.Arg330Pro)
c.4193G>C (p.Arg1398Pro)
c.498-6601C>G
c.1294-6601C>G (n.1294-6601C>G)
c.3479G>C (p.Arg1160Pro)
c.4184G>C (p.Arg1395Pro)
c.2939G>C (p.Arg980Pro)
c.1585-2244C>G (n.1585-2244C>G)
21g.45505213G=CA2392191250COL18A1,SLC19A1c.3488G= (p.Arg1163=)
c.2948G= (p.Arg983=)
c.989G= (p.Arg330=)
c.4193G= (p.Arg1398=)
c.498-6601C=
c.1294-6601C= (n.1294-6601C=)
c.3479G= (p.Arg1160=)
c.4184G= (p.Arg1395=)
c.2939G= (p.Arg980=)
c.1585-2244C= (n.1585-2244C=)
21g.45505213G>TCA410499526COL18A1,SLC19A1c.3488G>T (p.Arg1163Leu)
c.2948G>T (p.Arg983Leu)
c.989G>T (p.Arg330Leu)
c.4193G>T (p.Arg1398Leu)
c.498-6601C>A
c.1294-6601C>A (n.1294-6601C>A)
c.3479G>T (p.Arg1160Leu)
c.4184G>T (p.Arg1395Leu)
c.2939G>T (p.Arg980Leu)
c.1585-2244C>A (n.1585-2244C>A)
 gnomAD v4
21g.45505213_45505241delinsGCCAGGGCCCTCCCGGCCCCCCAGGCCCCCA2392191251COL18A1,SLC19A1c.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)
21g.45505214C>ACA512687258COL18A1,SLC19A1c.3489C>A (p.Arg1163=)
c.2949C>A (p.Arg983=)
c.990C>A (p.Arg330=)
c.4194C>A (p.Arg1398=)
c.498-6602G>T
c.1294-6602G>T (n.1294-6602G>T)
c.3480C>A (p.Arg1160=)
c.4185C>A (p.Arg1395=)
c.2940C>A (p.Arg980=)
c.1585-2245G>T (n.1585-2245G>T)
 gnomAD v4
21g.45505214C=CA2392191252COL18A1,SLC19A1c.3489C= (p.Arg1163=)
c.2949C= (p.Arg983=)
c.990C= (p.Arg330=)
c.4194C= (p.Arg1398=)
c.498-6602G=
c.1294-6602G= (n.1294-6602G=)
c.3480C= (p.Arg1160=)
c.4185C= (p.Arg1395=)
c.2940C= (p.Arg980=)
c.1585-2245G= (n.1585-2245G=)
21g.45505214C>GCA512687259COL18A1,SLC19A1c.3489C>G (p.Arg1163=)
c.2949C>G (p.Arg983=)
c.990C>G (p.Arg330=)
c.4194C>G (p.Arg1398=)
c.498-6602G>C
c.1294-6602G>C (n.1294-6602G>C)
c.3480C>G (p.Arg1160=)
c.4185C>G (p.Arg1395=)
c.2940C>G (p.Arg980=)
c.1585-2245G>C (n.1585-2245G>C)
 gnomAD v4
21g.45505214C>TCA10067569COL18A1,SLC19A1c.3489C>T (p.Arg1163=)
c.2949C>T (p.Arg983=)
c.990C>T (p.Arg330=)
c.4194C>T (p.Arg1398=)
c.498-6602G>A
c.1294-6602G>A (n.1294-6602G>A)
c.3480C>T (p.Arg1160=)
c.4185C>T (p.Arg1395=)
c.2940C>T (p.Arg980=)
c.1585-2245G>A (n.1585-2245G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
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.45505215C>ACA410499527COL18A1,SLC19A1c.3490C>A (p.Gln1164Lys)
c.2950C>A (p.Gln984Lys)
c.991C>A (p.Gln331Lys)
c.4195C>A (p.Gln1399Lys)
c.498-6603G>T
c.1294-6603G>T (n.1294-6603G>T)
c.3481C>A (p.Gln1161Lys)
c.4186C>A (p.Gln1396Lys)
c.2941C>A (p.Gln981Lys)
c.1585-2246G>T (n.1585-2246G>T)
21g.45505215C>GCA410499528COL18A1,SLC19A1c.3490C>G (p.Gln1164Glu)
c.2950C>G (p.Gln984Glu)
c.991C>G (p.Gln331Glu)
c.4195C>G (p.Gln1399Glu)
c.498-6603G>C
c.1294-6603G>C (n.1294-6603G>C)
c.3481C>G (p.Gln1161Glu)
c.4186C>G (p.Gln1396Glu)
c.2941C>G (p.Gln981Glu)
c.1585-2246G>C (n.1585-2246G>C)
21g.45505215C>TCA410499529COL18A1,SLC19A1c.3490C>T (p.Gln1164Ter)
c.2950C>T (p.Gln984Ter)
c.991C>T (p.Gln331Ter)
c.4195C>T (p.Gln1399Ter)
c.498-6603G>A
c.1294-6603G>A (n.1294-6603G>A)
c.3481C>T (p.Gln1161Ter)
c.4186C>T (p.Gln1396Ter)
c.2941C>T (p.Gln981Ter)
c.1585-2246G>A (n.1585-2246G>A)
 gnomAD v4
21g.45505216A>CCA410499530COL18A1,SLC19A1c.3491A>C (p.Gln1164Pro)
c.2951A>C (p.Gln984Pro)
c.992A>C (p.Gln331Pro)
c.4196A>C (p.Gln1399Pro)
c.498-6604T>G
c.1294-6604T>G (n.1294-6604T>G)
c.3482A>C (p.Gln1161Pro)
c.4187A>C (p.Gln1396Pro)
c.2942A>C (p.Gln981Pro)
c.1585-2247T>G (n.1585-2247T>G)
21g.45505216A>GCA410499531COL18A1,SLC19A1c.3491A>G (p.Gln1164Arg)
c.2951A>G (p.Gln984Arg)
c.992A>G (p.Gln331Arg)
c.4196A>G (p.Gln1399Arg)
c.498-6604T>C
c.1294-6604T>C (n.1294-6604T>C)
c.3482A>G (p.Gln1161Arg)
c.4187A>G (p.Gln1396Arg)
c.2942A>G (p.Gln981Arg)
c.1585-2247T>C (n.1585-2247T>C)
21g.45505216A>TCA410499532COL18A1,SLC19A1c.3491A>T (p.Gln1164Leu)
c.2951A>T (p.Gln984Leu)
c.992A>T (p.Gln331Leu)
c.4196A>T (p.Gln1399Leu)
c.498-6604T>A
c.1294-6604T>A (n.1294-6604T>A)
c.3482A>T (p.Gln1161Leu)
c.4187A>T (p.Gln1396Leu)
c.2942A>T (p.Gln981Leu)
c.1585-2247T>A (n.1585-2247T>A)
21g.45505217G>ACA512687260COL18A1,SLC19A1c.3492G>A (p.Gln1164=)
c.2952G>A (p.Gln984=)
c.993G>A (p.Gln331=)
c.4197G>A (p.Gln1399=)
c.498-6605C>T
c.1294-6605C>T (n.1294-6605C>T)
c.3483G>A (p.Gln1161=)
c.4188G>A (p.Gln1396=)
c.2943G>A (p.Gln981=)
c.1585-2248C>T (n.1585-2248C>T)
21g.45505217G>CCA410499533COL18A1,SLC19A1c.3492G>C (p.Gln1164His)
c.2952G>C (p.Gln984His)
c.993G>C (p.Gln331His)
c.4197G>C (p.Gln1399His)
c.498-6605C>G
c.1294-6605C>G (n.1294-6605C>G)
c.3483G>C (p.Gln1161His)
c.4188G>C (p.Gln1396His)
c.2943G>C (p.Gln981His)
c.1585-2248C>G (n.1585-2248C>G)
21g.45505217G>TCA410499534COL18A1,SLC19A1c.3492G>T (p.Gln1164His)
c.2952G>T (p.Gln984His)
c.993G>T (p.Gln331His)
c.4197G>T (p.Gln1399His)
c.498-6605C>A
c.1294-6605C>A (n.1294-6605C>A)
c.3483G>T (p.Gln1161His)
c.4188G>T (p.Gln1396His)
c.2943G>T (p.Gln981His)
c.1585-2248C>A (n.1585-2248C>A)
21g.45505217_45505226delinsGGGCCCTCCCCA2392191253COL18A1,SLC19A1c.3492_3501delinsGGGCCCTCCC (p.Gln1164=)
c.2952_2961delinsGGGCCCTCCC (p.Gln984=)
c.993_1002delinsGGGCCCTCCC (p.Gln331=)
c.4197_4206delinsGGGCCCTCCC (p.Gln1399=)
c.498-6614_498-6605delinsGGGAGGGCCC
c.1294-6614_1294-6605delinsGGGAGGGCCC (n.1294-6614_1294-6605delinsGGGAGGGCCC)
c.3483_3492delinsGGGCCCTCCC (p.Gln1161=)
c.4188_4197delinsGGGCCCTCCC (p.Gln1396=)
c.2943_2952delinsGGGCCCTCCC (p.Gln981=)
c.1585-2257_1585-2248delinsGGGAGGGCCC (n.1585-2257_1585-2248delinsGGGAGGGCCC)
21g.45505218G>ACA410499536COL18A1,SLC19A1c.3493G>A (p.Gly1165Ser)
c.2953G>A (p.Gly985Ser)
c.994G>A (p.Gly332Ser)
c.4198G>A (p.Gly1400Ser)
c.498-6606C>T
c.1294-6606C>T (n.1294-6606C>T)
c.3484G>A (p.Gly1162Ser)
c.4189G>A (p.Gly1397Ser)
c.2944G>A (p.Gly982Ser)
c.1585-2249C>T (n.1585-2249C>T)
21g.45505218G>CCA410499535COL18A1,SLC19A1c.3493G>C (p.Gly1165Arg)
c.2953G>C (p.Gly985Arg)
c.994G>C (p.Gly332Arg)
c.4198G>C (p.Gly1400Arg)
c.498-6606C>G
c.1294-6606C>G (n.1294-6606C>G)
c.3484G>C (p.Gly1162Arg)
c.4189G>C (p.Gly1397Arg)
c.2944G>C (p.Gly982Arg)
c.1585-2249C>G (n.1585-2249C>G)
21g.45505218G>TCA410499537COL18A1,SLC19A1c.3493G>T (p.Gly1165Cys)
c.2953G>T (p.Gly985Cys)
c.994G>T (p.Gly332Cys)
c.4198G>T (p.Gly1400Cys)
c.498-6606C>A
c.1294-6606C>A (n.1294-6606C>A)
c.3484G>T (p.Gly1162Cys)
c.4189G>T (p.Gly1397Cys)
c.2944G>T (p.Gly982Cys)
c.1585-2249C>A (n.1585-2249C>A)
21g.45505223_45505231dupCA10067571COL18A1,SLC19A1c.3498_3506dup (p.Pro1169_Pro1170insProGlyPro)
c.2958_2966dup (p.Pro989_Pro990insProGlyPro)
c.999_1007dup (p.Pro336_Pro337insProGlyPro)
c.4203_4211dup (p.Pro1404_Pro1405insProGlyPro)
c.498-6614_498-6606dup
c.1294-6614_1294-6606dup (n.1294-6614_1294-6606dup)
c.3489_3497dup (p.Pro1166_Pro1167insProGlyPro)
c.4194_4202dup (p.Pro1401_Pro1402insProGlyPro)
c.2949_2957dup (p.Pro986_Pro987insProGlyPro)
c.1585-2257_1585-2249dup (n.1585-2257_1585-2249dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45505223_45505231delCA10067570COL18A1,SLC19A1c.3498_3506del (p.Pro1167_Pro1169del)
c.2958_2966del (p.Pro987_Pro989del)
c.999_1007del (p.Pro334_Pro336del)
c.4203_4211del (p.Pro1402_Pro1404del)
c.498-6614_498-6606del
c.1294-6614_1294-6606del (n.1294-6614_1294-6606del)
c.3489_3497del (p.Pro1164_Pro1166del)
c.4194_4202del (p.Pro1399_Pro1401del)
c.2949_2957del (p.Pro984_Pro986del)
c.1585-2257_1585-2249del (n.1585-2257_1585-2249del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505219G>ACA410499538COL18A1,SLC19A1c.3494G>A (p.Gly1165Asp)
c.2954G>A (p.Gly985Asp)
c.995G>A (p.Gly332Asp)
c.4199G>A (p.Gly1400Asp)
c.498-6607C>T
c.1294-6607C>T (n.1294-6607C>T)
c.3485G>A (p.Gly1162Asp)
c.4190G>A (p.Gly1397Asp)
c.2945G>A (p.Gly982Asp)
c.1585-2250C>T (n.1585-2250C>T)
 dbSNP
21g.45505219G>CCA410499539COL18A1,SLC19A1c.3494G>C (p.Gly1165Ala)
c.2954G>C (p.Gly985Ala)
c.995G>C (p.Gly332Ala)
c.4199G>C (p.Gly1400Ala)
c.498-6607C>G
c.1294-6607C>G (n.1294-6607C>G)
c.3485G>C (p.Gly1162Ala)
c.4190G>C (p.Gly1397Ala)
c.2945G>C (p.Gly982Ala)
c.1585-2250C>G (n.1585-2250C>G)
21g.45505219G>TCA410499540COL18A1,SLC19A1c.3494G>T (p.Gly1165Val)
c.2954G>T (p.Gly985Val)
c.995G>T (p.Gly332Val)
c.4199G>T (p.Gly1400Val)
c.498-6607C>A
c.1294-6607C>A (n.1294-6607C>A)
c.3485G>T (p.Gly1162Val)
c.4190G>T (p.Gly1397Val)
c.2945G>T (p.Gly982Val)
c.1585-2250C>A (n.1585-2250C>A)
21g.45505220C>ACA512687263COL18A1,SLC19A1c.3495C>A (p.Gly1165=)
c.2955C>A (p.Gly985=)
c.996C>A (p.Gly332=)
c.4200C>A (p.Gly1400=)
c.498-6608G>T
c.1294-6608G>T (n.1294-6608G>T)
c.3486C>A (p.Gly1162=)
c.4191C>A (p.Gly1397=)
c.2946C>A (p.Gly982=)
c.1585-2251G>T (n.1585-2251G>T)
 dbSNP gnomAD v4
21g.45505220C=CA2392191254COL18A1,SLC19A1c.3495C= (p.Gly1165=)
c.2955C= (p.Gly985=)
c.996C= (p.Gly332=)
c.4200C= (p.Gly1400=)
c.498-6608G=
c.1294-6608G= (n.1294-6608G=)
c.3486C= (p.Gly1162=)
c.4191C= (p.Gly1397=)
c.2946C= (p.Gly982=)
c.1585-2251G= (n.1585-2251G=)
21g.45505220C>GCA512687261COL18A1,SLC19A1c.3495C>G (p.Gly1165=)
c.2955C>G (p.Gly985=)
c.996C>G (p.Gly332=)
c.4200C>G (p.Gly1400=)
c.498-6608G>C
c.1294-6608G>C (n.1294-6608G>C)
c.3486C>G (p.Gly1162=)
c.4191C>G (p.Gly1397=)
c.2946C>G (p.Gly982=)
c.1585-2251G>C (n.1585-2251G>C)
 ClinVar dbSNP
21g.45505220C>TCA512687262COL18A1,SLC19A1c.3495C>T (p.Gly1165=)
c.2955C>T (p.Gly985=)
c.996C>T (p.Gly332=)
c.4200C>T (p.Gly1400=)
c.498-6608G>A
c.1294-6608G>A (n.1294-6608G>A)
c.3486C>T (p.Gly1162=)
c.4191C>T (p.Gly1397=)
c.2946C>T (p.Gly982=)
c.1585-2251G>A (n.1585-2251G>A)
21g.45505222delCA2577626979COL18A1,SLC19A1c.3497del (p.Pro1166LeufsTer?)
c.2957del (p.Pro986LeufsTer?)
c.998del (p.Pro333LeufsTer?)
c.4202del (p.Pro1401LeufsTer?)
c.498-6608del
c.1294-6608del (n.1294-6608del)
c.3488del (p.Pro1163LeufsTer?)
c.4193del (p.Pro1398LeufsTer?)
c.2948del (p.Pro983LeufsTer?)
c.1585-2251del (n.1585-2251del)
 gnomAD v4
21g.45505221C>ACA10067572COL18A1,SLC19A1c.3496C>A (p.Pro1166Thr)
c.2956C>A (p.Pro986Thr)
c.997C>A (p.Pro333Thr)
c.4201C>A (p.Pro1401Thr)
c.498-6609G>T
c.1294-6609G>T (n.1294-6609G>T)
c.3487C>A (p.Pro1163Thr)
c.4192C>A (p.Pro1398Thr)
c.2947C>A (p.Pro983Thr)
c.1585-2252G>T (n.1585-2252G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505221C=CA2392191255COL18A1,SLC19A1c.3496C= (p.Pro1166=)
c.2956C= (p.Pro986=)
c.997C= (p.Pro333=)
c.4201C= (p.Pro1401=)
c.498-6609G=
c.1294-6609G= (n.1294-6609G=)
c.3487C= (p.Pro1163=)
c.4192C= (p.Pro1398=)
c.2947C= (p.Pro983=)
c.1585-2252G= (n.1585-2252G=)
21g.45505221C>GCA410499541COL18A1,SLC19A1c.3496C>G (p.Pro1166Ala)
c.2956C>G (p.Pro986Ala)
c.997C>G (p.Pro333Ala)
c.4201C>G (p.Pro1401Ala)
c.498-6609G>C
c.1294-6609G>C (n.1294-6609G>C)
c.3487C>G (p.Pro1163Ala)
c.4192C>G (p.Pro1398Ala)
c.2947C>G (p.Pro983Ala)
c.1585-2252G>C (n.1585-2252G>C)
21g.45505221C>TCA10653680COL18A1,SLC19A1c.3496C>T (p.Pro1166Ser)
c.2956C>T (p.Pro986Ser)
c.997C>T (p.Pro333Ser)
c.4201C>T (p.Pro1401Ser)
c.498-6609G>A
c.1294-6609G>A (n.1294-6609G>A)
c.3487C>T (p.Pro1163Ser)
c.4192C>T (p.Pro1398Ser)
c.2947C>T (p.Pro983Ser)
c.1585-2252G>A (n.1585-2252G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45505223_45505230delCA2695230314COL18A1,SLC19A1c.3498_3505del (p.Gly1168ArgfsTer?)
c.2958_2965del (p.Gly988ArgfsTer?)
c.999_1006del (p.Gly335ArgfsTer?)
c.4203_4210del (p.Gly1403ArgfsTer?)
c.498-6616_498-6609del
c.1294-6616_1294-6609del (n.1294-6616_1294-6609del)
c.3489_3496del (p.Gly1165ArgfsTer?)
c.4194_4201del (p.Gly1400ArgfsTer?)
c.2949_2956del (p.Gly985ArgfsTer?)
c.1585-2259_1585-2252del (n.1585-2259_1585-2252del)
21g.45505222C>ACA410499542COL18A1,SLC19A1c.3497C>A (p.Pro1166His)
c.2957C>A (p.Pro986His)
c.998C>A (p.Pro333His)
c.4202C>A (p.Pro1401His)
c.498-6610G>T
c.1294-6610G>T (n.1294-6610G>T)
c.3488C>A (p.Pro1163His)
c.4193C>A (p.Pro1398His)
c.2948C>A (p.Pro983His)
c.1585-2253G>T (n.1585-2253G>T)
21g.45505222C=CA2392191256COL18A1,SLC19A1c.3497C= (p.Pro1166=)
c.2957C= (p.Pro986=)
c.998C= (p.Pro333=)
c.4202C= (p.Pro1401=)
c.498-6610G=
c.1294-6610G= (n.1294-6610G=)
c.3488C= (p.Pro1163=)
c.4193C= (p.Pro1398=)
c.2948C= (p.Pro983=)
c.1585-2253G= (n.1585-2253G=)
21g.45505222C>GCA410499543COL18A1,SLC19A1c.3497C>G (p.Pro1166Arg)
c.2957C>G (p.Pro986Arg)
c.998C>G (p.Pro333Arg)
c.4202C>G (p.Pro1401Arg)
c.498-6610G>C
c.1294-6610G>C (n.1294-6610G>C)
c.3488C>G (p.Pro1163Arg)
c.4193C>G (p.Pro1398Arg)
c.2948C>G (p.Pro983Arg)
c.1585-2253G>C (n.1585-2253G>C)
 dbSNP gnomAD v2 gnomAD v4
21g.45505222C>TCA410499544COL18A1,SLC19A1c.3497C>T (p.Pro1166Leu)
c.2957C>T (p.Pro986Leu)
c.998C>T (p.Pro333Leu)
c.4202C>T (p.Pro1401Leu)
c.498-6610G>A
c.1294-6610G>A (n.1294-6610G>A)
c.3488C>T (p.Pro1163Leu)
c.4193C>T (p.Pro1398Leu)
c.2948C>T (p.Pro983Leu)
c.1585-2253G>A (n.1585-2253G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45505223T>ACA512687264COL18A1,SLC19A1c.3498T>A (p.Pro1166=)
c.2958T>A (p.Pro986=)
c.999T>A (p.Pro333=)
c.4203T>A (p.Pro1401=)
c.498-6611A>T
c.1294-6611A>T (n.1294-6611A>T)
c.3489T>A (p.Pro1163=)
c.4194T>A (p.Pro1398=)
c.2949T>A (p.Pro983=)
c.1585-2254A>T (n.1585-2254A>T)
21g.45505223T>CCA10067573COL18A1,SLC19A1c.3498T>C (p.Pro1166=)
c.2958T>C (p.Pro986=)
c.999T>C (p.Pro333=)
c.4203T>C (p.Pro1401=)
c.498-6611A>G
c.1294-6611A>G (n.1294-6611A>G)
c.3489T>C (p.Pro1163=)
c.4194T>C (p.Pro1398=)
c.2949T>C (p.Pro983=)
c.1585-2254A>G (n.1585-2254A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505223T>GCA512687265COL18A1,SLC19A1c.3498T>G (p.Pro1166=)
c.2958T>G (p.Pro986=)
c.999T>G (p.Pro333=)
c.4203T>G (p.Pro1401=)
c.498-6611A>C
c.1294-6611A>C (n.1294-6611A>C)
c.3489T>G (p.Pro1163=)
c.4194T>G (p.Pro1398=)
c.2949T>G (p.Pro983=)
c.1585-2254A>C (n.1585-2254A>C)
21g.45505223T=CA2392191258COL18A1,SLC19A1c.3498T= (p.Pro1166=)
c.2958T= (p.Pro986=)
c.999T= (p.Pro333=)
c.4203T= (p.Pro1401=)
c.498-6611A=
c.1294-6611A= (n.1294-6611A=)
c.3489T= (p.Pro1163=)
c.4194T= (p.Pro1398=)
c.2949T= (p.Pro983=)
c.1585-2254A= (n.1585-2254A=)
21g.45505223_45505228delCA2654919321COL18A1,SLC19A1c.3498_3503del (p.Pro1167_Gly1168del)
c.2958_2963del (p.Pro987_Gly988del)
c.999_1004del (p.Pro334_Gly335del)
c.4203_4208del (p.Pro1402_Gly1403del)
c.498-6616_498-6611del
c.1294-6616_1294-6611del (n.1294-6616_1294-6611del)
c.3489_3494del (p.Pro1164_Gly1165del)
c.4194_4199del (p.Pro1399_Gly1400del)
c.2949_2954del (p.Pro984_Gly985del)
c.1585-2259_1585-2254del (n.1585-2259_1585-2254del)
 gnomAD v4
21g.45505223_45505232delinsTCCCGGCCCCCA2392191257COL18A1,SLC19A1c.3498_3507delinsTCCCGGCCCC (p.Pro1166=)
c.2958_2967delinsTCCCGGCCCC (p.Pro986=)
c.999_1008delinsTCCCGGCCCC (p.Pro333=)
c.4203_4212delinsTCCCGGCCCC (p.Pro1401=)
c.498-6620_498-6611delinsGGGGCCGGGA
c.1294-6620_1294-6611delinsGGGGCCGGGA (n.1294-6620_1294-6611delinsGGGGCCGGGA)
c.3489_3498delinsTCCCGGCCCC (p.Pro1163=)
c.4194_4203delinsTCCCGGCCCC (p.Pro1398=)
c.2949_2958delinsTCCCGGCCCC (p.Pro983=)
c.1585-2263_1585-2254delinsGGGGCCGGGA (n.1585-2263_1585-2254delinsGGGGCCGGGA)
21g.45505224C>ACA410499547COL18A1,SLC19A1c.3499C>A (p.Pro1167Thr)
c.2959C>A (p.Pro987Thr)
c.1000C>A (p.Pro334Thr)
c.4204C>A (p.Pro1402Thr)
c.498-6612G>T
c.1294-6612G>T (n.1294-6612G>T)
c.3490C>A (p.Pro1164Thr)
c.4195C>A (p.Pro1399Thr)
c.2950C>A (p.Pro984Thr)
c.1585-2255G>T (n.1585-2255G>T)
21g.45505224C>GCA410499545COL18A1,SLC19A1c.3499C>G (p.Pro1167Ala)
c.2959C>G (p.Pro987Ala)
c.1000C>G (p.Pro334Ala)
c.4204C>G (p.Pro1402Ala)
c.498-6612G>C
c.1294-6612G>C (n.1294-6612G>C)
c.3490C>G (p.Pro1164Ala)
c.4195C>G (p.Pro1399Ala)
c.2950C>G (p.Pro984Ala)
c.1585-2255G>C (n.1585-2255G>C)
21g.45505224C>TCA410499546COL18A1,SLC19A1c.3499C>T (p.Pro1167Ser)
c.2959C>T (p.Pro987Ser)
c.1000C>T (p.Pro334Ser)
c.4204C>T (p.Pro1402Ser)
c.498-6612G>A
c.1294-6612G>A (n.1294-6612G>A)
c.3490C>T (p.Pro1164Ser)
c.4195C>T (p.Pro1399Ser)
c.2950C>T (p.Pro984Ser)
c.1585-2255G>A (n.1585-2255G>A)
 gnomAD v4
21g.45505226delCA2654919347COL18A1,SLC19A1c.3501del (p.Gly1168AlafsTer?)
c.2961del (p.Gly988AlafsTer?)
c.1002del (p.Gly335AlafsTer?)
c.4206del (p.Gly1403AlafsTer?)
c.498-6612del
c.1294-6612del (n.1294-6612del)
c.3492del (p.Gly1165AlafsTer?)
c.4197del (p.Gly1400AlafsTer?)
c.2952del (p.Gly985AlafsTer?)
c.1585-2255del (n.1585-2255del)
 gnomAD v4
21g.45505226_45505234dupCA16609791COL18A1,SLC19A1c.3501_3509dup (p.Pro1170_Gly1171insGlyProPro)
c.2961_2969dup (p.Pro990_Gly991insGlyProPro)
c.1002_1010dup (p.Pro337_Gly338insGlyProPro)
c.4206_4214dup (p.Pro1405_Gly1406insGlyProPro)
c.498-6620_498-6612dup
c.1294-6620_1294-6612dup (n.1294-6620_1294-6612dup)
c.3492_3500dup (p.Pro1167_Gly1168insGlyProPro)
c.4197_4205dup (p.Pro1402_Gly1403insGlyProPro)
c.2952_2960dup (p.Pro987_Gly988insGlyProPro)
c.1585-2263_1585-2255dup (n.1585-2263_1585-2255dup)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.45505225_45505234dupCA2573334922COL18A1,SLC19A1c.3500_3509dup (p.Gly1171ArgfsTer?)
c.2960_2969dup (p.Gly991ArgfsTer?)
c.1001_1010dup (p.Gly338ArgfsTer?)
c.4205_4214dup (p.Gly1406ArgfsTer?)
c.498-6621_498-6612dup
c.1294-6621_1294-6612dup (n.1294-6621_1294-6612dup)
c.3491_3500dup (p.Gly1168ArgfsTer?)
c.4196_4205dup (p.Gly1403ArgfsTer?)
c.2951_2960dup (p.Gly988ArgfsTer?)
c.1585-2264_1585-2255dup (n.1585-2264_1585-2255dup)
21g.45505226_45505234delCA10067574COL18A1,SLC19A1c.3501_3509del (p.Gly1168_Pro1170del)
c.2961_2969del (p.Gly988_Pro990del)
c.1002_1010del (p.Gly335_Pro337del)
c.4206_4214del (p.Gly1403_Pro1405del)
c.498-6620_498-6612del
c.1294-6620_1294-6612del (n.1294-6620_1294-6612del)
c.3492_3500del (p.Gly1165_Pro1167del)
c.4197_4205del (p.Gly1400_Pro1402del)
c.2952_2960del (p.Gly985_Pro987del)
c.1585-2263_1585-2255del (n.1585-2263_1585-2255del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 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.45505225C>ACA410499548COL18A1,SLC19A1c.3500C>A (p.Pro1167His)
c.2960C>A (p.Pro987His)
c.1001C>A (p.Pro334His)
c.4205C>A (p.Pro1402His)
c.498-6613G>T
c.1294-6613G>T (n.1294-6613G>T)
c.3491C>A (p.Pro1164His)
c.4196C>A (p.Pro1399His)
c.2951C>A (p.Pro984His)
c.1585-2256G>T (n.1585-2256G>T)
21g.45505225C>GCA410499549COL18A1,SLC19A1c.3500C>G (p.Pro1167Arg)
c.2960C>G (p.Pro987Arg)
c.1001C>G (p.Pro334Arg)
c.4205C>G (p.Pro1402Arg)
c.498-6613G>C
c.1294-6613G>C (n.1294-6613G>C)
c.3491C>G (p.Pro1164Arg)
c.4196C>G (p.Pro1399Arg)
c.2951C>G (p.Pro984Arg)
c.1585-2256G>C (n.1585-2256G>C)
21g.45505225C>TCA410499550COL18A1,SLC19A1c.3500C>T (p.Pro1167Leu)
c.2960C>T (p.Pro987Leu)
c.1001C>T (p.Pro334Leu)
c.4205C>T (p.Pro1402Leu)
c.498-6613G>A
c.1294-6613G>A (n.1294-6613G>A)
c.3491C>T (p.Pro1164Leu)
c.4196C>T (p.Pro1399Leu)
c.2951C>T (p.Pro984Leu)
c.1585-2256G>A (n.1585-2256G>A)
 gnomAD v4
21g.45505226C>ACA10067575COL18A1,SLC19A1c.3501C>A (p.Pro1167=)
c.2961C>A (p.Pro987=)
c.1002C>A (p.Pro334=)
c.4206C>A (p.Pro1402=)
c.498-6614G>T
c.1294-6614G>T (n.1294-6614G>T)
c.3492C>A (p.Pro1164=)
c.4197C>A (p.Pro1399=)
c.2952C>A (p.Pro984=)
c.1585-2257G>T (n.1585-2257G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505226C=CA2392191259COL18A1,SLC19A1c.3501C= (p.Pro1167=)
c.2961C= (p.Pro987=)
c.1002C= (p.Pro334=)
c.4206C= (p.Pro1402=)
c.498-6614G=
c.1294-6614G= (n.1294-6614G=)
c.3492C= (p.Pro1164=)
c.4197C= (p.Pro1399=)
c.2952C= (p.Pro984=)
c.1585-2257G= (n.1585-2257G=)
21g.45505226C>GCA512687266COL18A1,SLC19A1c.3501C>G (p.Pro1167=)
c.2961C>G (p.Pro987=)
c.1002C>G (p.Pro334=)
c.4206C>G (p.Pro1402=)
c.498-6614G>C
c.1294-6614G>C (n.1294-6614G>C)
c.3492C>G (p.Pro1164=)
c.4197C>G (p.Pro1399=)
c.2952C>G (p.Pro984=)
c.1585-2257G>C (n.1585-2257G>C)
21g.45505226C>TCA10067578COL18A1,SLC19A1c.3501C>T (p.Pro1167=)
c.2961C>T (p.Pro987=)
c.1002C>T (p.Pro334=)
c.4206C>T (p.Pro1402=)
c.498-6614G>A
c.1294-6614G>A (n.1294-6614G>A)
c.3492C>T (p.Pro1164=)
c.4197C>T (p.Pro1399=)
c.2952C>T (p.Pro984=)
c.1585-2257G>A (n.1585-2257G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505226_45505235delinsCGGCCCCCCACA2392191260COL18A1,SLC19A1c.3501_3510delinsCGGCCCCCCA (p.Pro1167=)
c.2961_2970delinsCGGCCCCCCA (p.Pro987=)
c.1002_1011delinsCGGCCCCCCA (p.Pro334=)
c.4206_4215delinsCGGCCCCCCA (p.Pro1402=)
c.498-6623_498-6614delinsTGGGGGGCCG
c.1294-6623_1294-6614delinsTGGGGGGCCG (n.1294-6623_1294-6614delinsTGGGGGGCCG)
c.3492_3501delinsCGGCCCCCCA (p.Pro1164=)
c.4197_4206delinsCGGCCCCCCA (p.Pro1399=)
c.2952_2961delinsCGGCCCCCCA (p.Pro984=)
c.1585-2266_1585-2257delinsTGGGGGGCCG (n.1585-2266_1585-2257delinsTGGGGGGCCG)
21g.45505226_45505227insACA2577626981COL18A1,SLC19A1c.3501_3502insA (p.Gly1168ArgfsTer?)
c.2961_2962insA (p.Gly988ArgfsTer?)
c.1002_1003insA (p.Gly335ArgfsTer?)
c.4206_4207insA (p.Gly1403ArgfsTer?)
c.498-6615_498-6614insT
c.1294-6615_1294-6614insT (n.1294-6615_1294-6614insT)
c.3492_3493insA (p.Gly1165ArgfsTer?)
c.4197_4198insA (p.Gly1400ArgfsTer?)
c.2952_2953insA (p.Gly985ArgfsTer?)
c.1585-2258_1585-2257insT (n.1585-2258_1585-2257insT)
21g.45505226_45505227insACCTTCCAACACACCCACCTTCCTTCTAGACA2654919369COL18A1,SLC19A1c.3501_3502insACCTTCCAACACACCCACCTTCCTTCTAGA (p.Pro1167_Gly1168insThrPheGlnHisThrHisLeuProSerArg)
c.2961_2962insACCTTCCAACACACCCACCTTCCTTCTAGA (p.Pro987_Gly988insThrPheGlnHisThrHisLeuProSerArg)
c.1002_1003insACCTTCCAACACACCCACCTTCCTTCTAGA (p.Pro334_Gly335insThrPheGlnHisThrHisLeuProSerArg)
c.4206_4207insACCTTCCAACACACCCACCTTCCTTCTAGA (p.Pro1402_Gly1403insThrPheGlnHisThrHisLeuProSerArg)
c.498-6615_498-6614insTCTAGAAGGAAGGTGGGTGTGTTGGAAGGT
c.1294-6615_1294-6614insTCTAGAAGGAAGGTGGGTGTGTTGGAAGGT (n.1294-6615_1294-6614insTCTAGAAGGAAGGTGGGTGTGTTGGAAGGT)
c.3492_3493insACCTTCCAACACACCCACCTTCCTTCTAGA (p.Pro1164_Gly1165insThrPheGlnHisThrHisLeuProSerArg)
c.4197_4198insACCTTCCAACACACCCACCTTCCTTCTAGA (p.Pro1399_Gly1400insThrPheGlnHisThrHisLeuProSerArg)
c.2952_2953insACCTTCCAACACACCCACCTTCCTTCTAGA (p.Pro984_Gly985insThrPheGlnHisThrHisLeuProSerArg)
c.1585-2258_1585-2257insTCTAGAAGGAAGGTGGGTGTGTTGGAAGGT (n.1585-2258_1585-2257insTCTAGAAGGAAGGTGGGTGTGTTGGAAGGT)
 gnomAD v4
21g.45505227G>ACA410499551COL18A1,SLC19A1c.3502G>A (p.Gly1168Ser)
c.2962G>A (p.Gly988Ser)
c.1003G>A (p.Gly335Ser)
c.4207G>A (p.Gly1403Ser)
c.498-6615C>T
c.1294-6615C>T (n.1294-6615C>T)
c.3493G>A (p.Gly1165Ser)
c.4198G>A (p.Gly1400Ser)
c.2953G>A (p.Gly985Ser)
c.1585-2258C>T (n.1585-2258C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.45505227G>CCA410499552COL18A1,SLC19A1c.3502G>C (p.Gly1168Arg)
c.2962G>C (p.Gly988Arg)
c.1003G>C (p.Gly335Arg)
c.4207G>C (p.Gly1403Arg)
c.498-6615C>G
c.1294-6615C>G (n.1294-6615C>G)
c.3493G>C (p.Gly1165Arg)
c.4198G>C (p.Gly1400Arg)
c.2953G>C (p.Gly985Arg)
c.1585-2258C>G (n.1585-2258C>G)
21g.45505227G=CA2392191262COL18A1,SLC19A1c.3502G= (p.Gly1168=)
c.2962G= (p.Gly988=)
c.1003G= (p.Gly335=)
c.4207G= (p.Gly1403=)
c.498-6615C=
c.1294-6615C= (n.1294-6615C=)
c.3493G= (p.Gly1165=)
c.4198G= (p.Gly1400=)
c.2953G= (p.Gly985=)
c.1585-2258C= (n.1585-2258C=)
21g.45505227G>TCA410499553COL18A1,SLC19A1c.3502G>T (p.Gly1168Cys)
c.2962G>T (p.Gly988Cys)
c.1003G>T (p.Gly335Cys)
c.4207G>T (p.Gly1403Cys)
c.498-6615C>A
c.1294-6615C>A (n.1294-6615C>A)
c.3493G>T (p.Gly1165Cys)
c.4198G>T (p.Gly1400Cys)
c.2953G>T (p.Gly985Cys)
c.1585-2258C>A (n.1585-2258C>A)
21g.45505231_45505232insTCCAGGCCCCA2573157798COL18A1,SLC19A1c.3506_3507insTCCAGGCCC (p.Pro1169_Pro1170insProGlyPro)
c.2966_2967insTCCAGGCCC (p.Pro989_Pro990insProGlyPro)
c.1007_1008insTCCAGGCCC (p.Pro336_Pro337insProGlyPro)
c.4211_4212insTCCAGGCCC (p.Pro1404_Pro1405insProGlyPro)
c.498-6615_498-6614insTGGAGGGCC
c.1294-6615_1294-6614insTGGAGGGCC (n.1294-6615_1294-6614insTGGAGGGCC)
c.3497_3498insTCCAGGCCC (p.Pro1166_Pro1167insProGlyPro)
c.4202_4203insTCCAGGCCC (p.Pro1401_Pro1402insProGlyPro)
c.2957_2958insTCCAGGCCC (p.Pro986_Pro987insProGlyPro)
c.1585-2258_1585-2257insTGGAGGGCC (n.1585-2258_1585-2257insTGGAGGGCC)
 ClinVar dbSNP
21g.45505240_45505241insTCCCGGCCCCCCAGGCCCCCCAGGCCCCA2392191261COL18A1,SLC19A1c.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
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.45505228G>ACA410499555COL18A1,SLC19A1c.3503G>A (p.Gly1168Asp)
c.2963G>A (p.Gly988Asp)
c.1004G>A (p.Gly335Asp)
c.4208G>A (p.Gly1403Asp)
c.498-6616C>T
c.1294-6616C>T (n.1294-6616C>T)
c.3494G>A (p.Gly1165Asp)
c.4199G>A (p.Gly1400Asp)
c.2954G>A (p.Gly985Asp)
c.1585-2259C>T (n.1585-2259C>T)
 dbSNP gnomAD v4
21g.45505228G>CCA410499556COL18A1,SLC19A1c.3503G>C (p.Gly1168Ala)
c.2963G>C (p.Gly988Ala)
c.1004G>C (p.Gly335Ala)
c.4208G>C (p.Gly1403Ala)
c.498-6616C>G
c.1294-6616C>G (n.1294-6616C>G)
c.3494G>C (p.Gly1165Ala)
c.4199G>C (p.Gly1400Ala)
c.2954G>C (p.Gly985Ala)
c.1585-2259C>G (n.1585-2259C>G)
21g.45505228G=CA2392191264COL18A1,SLC19A1c.3503G= (p.Gly1168=)
c.2963G= (p.Gly988=)
c.1004G= (p.Gly335=)
c.4208G= (p.Gly1403=)
c.498-6616C=
c.1294-6616C= (n.1294-6616C=)
c.3494G= (p.Gly1165=)
c.4199G= (p.Gly1400=)
c.2954G= (p.Gly985=)
c.1585-2259C= (n.1585-2259C=)
21g.45505228G>TCA410499554COL18A1,SLC19A1c.3503G>T (p.Gly1168Val)
c.2963G>T (p.Gly988Val)
c.1004G>T (p.Gly335Val)
c.4208G>T (p.Gly1403Val)
c.498-6616C>A
c.1294-6616C>A (n.1294-6616C>A)
c.3494G>T (p.Gly1165Val)
c.4199G>T (p.Gly1400Val)
c.2954G>T (p.Gly985Val)
c.1585-2259C>A (n.1585-2259C>A)
21g.45505228_45505229delinsGCCA2392191263COL18A1,SLC19A1c.3503_3504delinsGC (p.Gly1168=)
c.2963_2964delinsGC (p.Gly988=)
c.1004_1005delinsGC (p.Gly335=)
c.4208_4209delinsGC (p.Gly1403=)
c.498-6617_498-6616delinsGC
c.1294-6617_1294-6616delinsGC (n.1294-6617_1294-6616delinsGC)
c.3494_3495delinsGC (p.Gly1165=)
c.4199_4200delinsGC (p.Gly1400=)
c.2954_2955delinsGC (p.Gly985=)
c.1585-2260_1585-2259delinsGC (n.1585-2260_1585-2259delinsGC)
21g.45505229C>ACA512687267COL18A1,SLC19A1c.3504C>A (p.Gly1168=)
c.2964C>A (p.Gly988=)
c.1005C>A (p.Gly335=)
c.4209C>A (p.Gly1403=)
c.498-6617G>T
c.1294-6617G>T (n.1294-6617G>T)
c.3495C>A (p.Gly1165=)
c.4200C>A (p.Gly1400=)
c.2955C>A (p.Gly985=)
c.1585-2260G>T (n.1585-2260G>T)
 gnomAD v4
21g.45505229C=CA2392191265COL18A1,SLC19A1c.3504C= (p.Gly1168=)
c.2964C= (p.Gly988=)
c.1005C= (p.Gly335=)
c.4209C= (p.Gly1403=)
c.498-6617G=
c.1294-6617G= (n.1294-6617G=)
c.3495C= (p.Gly1165=)
c.4200C= (p.Gly1400=)
c.2955C= (p.Gly985=)
c.1585-2260G= (n.1585-2260G=)
21g.45505229C>GCA321921468COL18A1,SLC19A1c.3504C>G (p.Gly1168=)
c.2964C>G (p.Gly988=)
c.1005C>G (p.Gly335=)
c.4209C>G (p.Gly1403=)
c.498-6617G>C
c.1294-6617G>C (n.1294-6617G>C)
c.3495C>G (p.Gly1165=)
c.4200C>G (p.Gly1400=)
c.2955C>G (p.Gly985=)
c.1585-2260G>C (n.1585-2260G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45505229C>TCA10067580COL18A1,SLC19A1c.3504C>T (p.Gly1168=)
c.2964C>T (p.Gly988=)
c.1005C>T (p.Gly335=)
c.4209C>T (p.Gly1403=)
c.498-6617G>A
c.1294-6617G>A (n.1294-6617G>A)
c.3495C>T (p.Gly1165=)
c.4200C>T (p.Gly1400=)
c.2955C>T (p.Gly985=)
c.1585-2260G>A (n.1585-2260G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505234dupCA2392191268COL18A1,SLC19A1c.3509dup (p.Gly1171ArgfsTer?)
c.2969dup (p.Gly991ArgfsTer?)
c.1010dup (p.Gly338ArgfsTer?)
c.4214dup (p.Gly1406ArgfsTer?)
c.498-6617dup
c.1294-6617dup (n.1294-6617dup)
c.3500dup (p.Gly1168ArgfsTer?)
c.4205dup (p.Gly1403ArgfsTer?)
c.2960dup (p.Gly988ArgfsTer?)
c.1585-2260dup (n.1585-2260dup)
 ClinVar dbSNP gnomAD v4
21g.45505234delCA638497273COL18A1,SLC19A1c.3509del (p.Pro1170GlnfsTer?)
c.2969del (p.Pro990GlnfsTer?)
c.1010del (p.Pro337GlnfsTer?)
c.4214del (p.Pro1405GlnfsTer?)
c.498-6617del
c.1294-6617del (n.1294-6617del)
c.3500del (p.Pro1167GlnfsTer?)
c.4205del (p.Pro1402GlnfsTer?)
c.2960del (p.Pro987GlnfsTer?)
c.1585-2260del (n.1585-2260del)
 dbSNP gnomAD v2 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.45505230C>ACA410499557COL18A1,SLC19A1c.3505C>A (p.Pro1169Thr)
c.2965C>A (p.Pro989Thr)
c.1006C>A (p.Pro336Thr)
c.4210C>A (p.Pro1404Thr)
c.498-6618G>T
c.1294-6618G>T (n.1294-6618G>T)
c.3496C>A (p.Pro1166Thr)
c.4201C>A (p.Pro1401Thr)
c.2956C>A (p.Pro986Thr)
c.1585-2261G>T (n.1585-2261G>T)
 dbSNP
21g.45505230C=CA2392191269COL18A1,SLC19A1c.3505C= (p.Pro1169=)
c.2965C= (p.Pro989=)
c.1006C= (p.Pro336=)
c.4210C= (p.Pro1404=)
c.498-6618G=
c.1294-6618G= (n.1294-6618G=)
c.3496C= (p.Pro1166=)
c.4201C= (p.Pro1401=)
c.2956C= (p.Pro986=)
c.1585-2261G= (n.1585-2261G=)
21g.45505230C>GCA410499558COL18A1,SLC19A1c.3505C>G (p.Pro1169Ala)
c.2965C>G (p.Pro989Ala)
c.1006C>G (p.Pro336Ala)
c.4210C>G (p.Pro1404Ala)
c.498-6618G>C
c.1294-6618G>C (n.1294-6618G>C)
c.3496C>G (p.Pro1166Ala)
c.4201C>G (p.Pro1401Ala)
c.2956C>G (p.Pro986Ala)
c.1585-2261G>C (n.1585-2261G>C)
21g.45505230C>TCA410499559COL18A1,SLC19A1c.3505C>T (p.Pro1169Ser)
c.2965C>T (p.Pro989Ser)
c.1006C>T (p.Pro336Ser)
c.4210C>T (p.Pro1404Ser)
c.498-6618G>A
c.1294-6618G>A (n.1294-6618G>A)
c.3496C>T (p.Pro1166Ser)
c.4201C>T (p.Pro1401Ser)
c.2956C>T (p.Pro986Ser)
c.1585-2261G>A (n.1585-2261G>A)
 gnomAD v4
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.45505230_45505231insTCA2654919392COL18A1,SLC19A1c.3505_3506insT (p.Pro1169LeufsTer?)
c.2965_2966insT (p.Pro989LeufsTer?)
c.1006_1007insT (p.Pro336LeufsTer?)
c.4210_4211insT (p.Pro1404LeufsTer?)
c.498-6619_498-6618insA
c.1294-6619_1294-6618insA (n.1294-6619_1294-6618insA)
c.3496_3497insT (p.Pro1166LeufsTer?)
c.4201_4202insT (p.Pro1401LeufsTer?)
c.2956_2957insT (p.Pro986LeufsTer?)
c.1585-2262_1585-2261insA (n.1585-2262_1585-2261insA)
 gnomAD v4
21g.45505231C>ACA410499560COL18A1,SLC19A1c.3506C>A (p.Pro1169His)
c.2966C>A (p.Pro989His)
c.1007C>A (p.Pro336His)
c.4211C>A (p.Pro1404His)
c.498-6619G>T
c.1294-6619G>T (n.1294-6619G>T)
c.3497C>A (p.Pro1166His)
c.4202C>A (p.Pro1401His)
c.2957C>A (p.Pro986His)
c.1585-2262G>T (n.1585-2262G>T)
21g.45505231C>GCA410499561COL18A1,SLC19A1c.3506C>G (p.Pro1169Arg)
c.2966C>G (p.Pro989Arg)
c.1007C>G (p.Pro336Arg)
c.4211C>G (p.Pro1404Arg)
c.498-6619G>C
c.1294-6619G>C (n.1294-6619G>C)
c.3497C>G (p.Pro1166Arg)
c.4202C>G (p.Pro1401Arg)
c.2957C>G (p.Pro986Arg)
c.1585-2262G>C (n.1585-2262G>C)
21g.45505231C>TCA410499562COL18A1,SLC19A1c.3506C>T (p.Pro1169Leu)
c.2966C>T (p.Pro989Leu)
c.1007C>T (p.Pro336Leu)
c.4211C>T (p.Pro1404Leu)
c.498-6619G>A
c.1294-6619G>A (n.1294-6619G>A)
c.3497C>T (p.Pro1166Leu)
c.4202C>T (p.Pro1401Leu)
c.2957C>T (p.Pro986Leu)
c.1585-2262G>A (n.1585-2262G>A)
21g.45505232C>ACA512687268COL18A1,SLC19A1c.3507C>A (p.Pro1169=)
c.2967C>A (p.Pro989=)
c.1008C>A (p.Pro336=)
c.4212C>A (p.Pro1404=)
c.498-6620G>T
c.1294-6620G>T (n.1294-6620G>T)
c.3498C>A (p.Pro1166=)
c.4203C>A (p.Pro1401=)
c.2958C>A (p.Pro986=)
c.1585-2263G>T (n.1585-2263G>T)
21g.45505232C=CA2392191270COL18A1,SLC19A1c.3507C= (p.Pro1169=)
c.2967C= (p.Pro989=)
c.1008C= (p.Pro336=)
c.4212C= (p.Pro1404=)
c.498-6620G=
c.1294-6620G= (n.1294-6620G=)
c.3498C= (p.Pro1166=)
c.4203C= (p.Pro1401=)
c.2958C= (p.Pro986=)
c.1585-2263G= (n.1585-2263G=)
21g.45505232C>GCA512687269COL18A1,SLC19A1c.3507C>G (p.Pro1169=)
c.2967C>G (p.Pro989=)
c.1008C>G (p.Pro336=)
c.4212C>G (p.Pro1404=)
c.498-6620G>C
c.1294-6620G>C (n.1294-6620G>C)
c.3498C>G (p.Pro1166=)
c.4203C>G (p.Pro1401=)
c.2958C>G (p.Pro986=)
c.1585-2263G>C (n.1585-2263G>C)
21g.45505232C>TCA512687270COL18A1,SLC19A1c.3507C>T (p.Pro1169=)
c.2967C>T (p.Pro989=)
c.1008C>T (p.Pro336=)
c.4212C>T (p.Pro1404=)
c.498-6620G>A
c.1294-6620G>A (n.1294-6620G>A)
c.3498C>T (p.Pro1166=)
c.4203C>T (p.Pro1401=)
c.2958C>T (p.Pro986=)
c.1585-2263G>A (n.1585-2263G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45505233C>ACA410499563COL18A1,SLC19A1c.3508C>A (p.Pro1170Thr)
c.2968C>A (p.Pro990Thr)
c.1009C>A (p.Pro337Thr)
c.4213C>A (p.Pro1405Thr)
c.498-6621G>T
c.1294-6621G>T (n.1294-6621G>T)
c.3499C>A (p.Pro1167Thr)
c.4204C>A (p.Pro1402Thr)
c.2959C>A (p.Pro987Thr)
c.1585-2264G>T (n.1585-2264G>T)
21g.45505233C=CA2392191271COL18A1,SLC19A1c.3508C= (p.Pro1170=)
c.2968C= (p.Pro990=)
c.1009C= (p.Pro337=)
c.4213C= (p.Pro1405=)
c.498-6621G=
c.1294-6621G= (n.1294-6621G=)
c.3499C= (p.Pro1167=)
c.4204C= (p.Pro1402=)
c.2959C= (p.Pro987=)
c.1585-2264G= (n.1585-2264G=)
21g.45505233C>GCA410499564COL18A1,SLC19A1c.3508C>G (p.Pro1170Ala)
c.2968C>G (p.Pro990Ala)
c.1009C>G (p.Pro337Ala)
c.4213C>G (p.Pro1405Ala)
c.498-6621G>C
c.1294-6621G>C (n.1294-6621G>C)
c.3499C>G (p.Pro1167Ala)
c.4204C>G (p.Pro1402Ala)
c.2959C>G (p.Pro987Ala)
c.1585-2264G>C (n.1585-2264G>C)
21g.45505233C>TCA410499565COL18A1,SLC19A1c.3508C>T (p.Pro1170Ser)
c.2968C>T (p.Pro990Ser)
c.1009C>T (p.Pro337Ser)
c.4213C>T (p.Pro1405Ser)
c.498-6621G>A
c.1294-6621G>A (n.1294-6621G>A)
c.3499C>T (p.Pro1167Ser)
c.4204C>T (p.Pro1402Ser)
c.2959C>T (p.Pro987Ser)
c.1585-2264G>A (n.1585-2264G>A)
 dbSNP gnomAD v4
21g.45505233_45505235delCA2654919394COL18A1,SLC19A1c.3508_3510del (p.Pro1170del)
c.2968_2970del (p.Pro990del)
c.1009_1011del (p.Pro337del)
c.4213_4215del (p.Pro1405del)
c.498-6623_498-6621del
c.1294-6623_1294-6621del (n.1294-6623_1294-6621del)
c.3499_3501del (p.Pro1167del)
c.4204_4206del (p.Pro1402del)
c.2959_2961del (p.Pro987del)
c.1585-2266_1585-2264del (n.1585-2266_1585-2264del)
 gnomAD v4
21g.45505234C>ACA410499567COL18A1,SLC19A1c.3509C>A (p.Pro1170Gln)
c.2969C>A (p.Pro990Gln)
c.1010C>A (p.Pro337Gln)
c.4214C>A (p.Pro1405Gln)
c.498-6622G>T
c.1294-6622G>T (n.1294-6622G>T)
c.3500C>A (p.Pro1167Gln)
c.4205C>A (p.Pro1402Gln)
c.2960C>A (p.Pro987Gln)
c.1585-2265G>T (n.1585-2265G>T)
21g.45505234C=CA2392191272COL18A1,SLC19A1c.3509C= (p.Pro1170=)
c.2969C= (p.Pro990=)
c.1010C= (p.Pro337=)
c.4214C= (p.Pro1405=)
c.498-6622G=
c.1294-6622G= (n.1294-6622G=)
c.3500C= (p.Pro1167=)
c.4205C= (p.Pro1402=)
c.2960C= (p.Pro987=)
c.1585-2265G= (n.1585-2265G=)
21g.45505234C>GCA321921474COL18A1,SLC19A1c.3509C>G (p.Pro1170Arg)
c.2969C>G (p.Pro990Arg)
c.1010C>G (p.Pro337Arg)
c.4214C>G (p.Pro1405Arg)
c.498-6622G>C
c.1294-6622G>C (n.1294-6622G>C)
c.3500C>G (p.Pro1167Arg)
c.4205C>G (p.Pro1402Arg)
c.2960C>G (p.Pro987Arg)
c.1585-2265G>C (n.1585-2265G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45505234C>TCA410499566COL18A1,SLC19A1c.3509C>T (p.Pro1170Leu)
c.2969C>T (p.Pro990Leu)
c.1010C>T (p.Pro337Leu)
c.4214C>T (p.Pro1405Leu)
c.498-6622G>A
c.1294-6622G>A (n.1294-6622G>A)
c.3500C>T (p.Pro1167Leu)
c.4205C>T (p.Pro1402Leu)
c.2960C>T (p.Pro987Leu)
c.1585-2265G>A (n.1585-2265G>A)
 gnomAD v4
21g.45505235delCA2654919405COL18A1,SLC19A1c.3510del (p.Gly1171AlafsTer?)
c.2970del (p.Gly991AlafsTer?)
c.1011del (p.Gly338AlafsTer?)
c.4215del (p.Gly1406AlafsTer?)
c.498-6623del
c.1294-6623del (n.1294-6623del)
c.3501del (p.Gly1168AlafsTer?)
c.4206del (p.Gly1403AlafsTer?)
c.2961del (p.Gly988AlafsTer?)
c.1585-2266del (n.1585-2266del)
 gnomAD v4
21g.45505235A=CA2392191274COL18A1,SLC19A1c.3510A= (p.Pro1170=)
c.2970A= (p.Pro990=)
c.1011A= (p.Pro337=)
c.4215A= (p.Pro1405=)
c.498-6623T=
c.1294-6623T= (n.1294-6623T=)
c.3501A= (p.Pro1167=)
c.4206A= (p.Pro1402=)
c.2961A= (p.Pro987=)
c.1585-2266T= (n.1585-2266T=)
21g.45505235A>CCA10067582COL18A1,SLC19A1c.3510A>C (p.Pro1170=)
c.2970A>C (p.Pro990=)
c.1011A>C (p.Pro337=)
c.4215A>C (p.Pro1405=)
c.498-6623T>G
c.1294-6623T>G (n.1294-6623T>G)
c.3501A>C (p.Pro1167=)
c.4206A>C (p.Pro1402=)
c.2961A>C (p.Pro987=)
c.1585-2266T>G (n.1585-2266T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505235A>GCA512687271COL18A1,SLC19A1c.3510A>G (p.Pro1170=)
c.2970A>G (p.Pro990=)
c.1011A>G (p.Pro337=)
c.4215A>G (p.Pro1405=)
c.498-6623T>C
c.1294-6623T>C (n.1294-6623T>C)
c.3501A>G (p.Pro1167=)
c.4206A>G (p.Pro1402=)
c.2961A>G (p.Pro987=)
c.1585-2266T>C (n.1585-2266T>C)
 dbSNP gnomAD v2 gnomAD v4
21g.45505235A>TCA512687272COL18A1,SLC19A1c.3510A>T (p.Pro1170=)
c.2970A>T (p.Pro990=)
c.1011A>T (p.Pro337=)
c.4215A>T (p.Pro1405=)
c.498-6623T>A
c.1294-6623T>A (n.1294-6623T>A)
c.3501A>T (p.Pro1167=)
c.4206A>T (p.Pro1402=)
c.2961A>T (p.Pro987=)
c.1585-2266T>A (n.1585-2266T>A)
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.45505236G>ACA410499568COL18A1,SLC19A1c.3511G>A (p.Gly1171Ser)
c.2971G>A (p.Gly991Ser)
c.1012G>A (p.Gly338Ser)
c.4216G>A (p.Gly1406Ser)
c.498-6624C>T
c.1294-6624C>T (n.1294-6624C>T)
c.3502G>A (p.Gly1168Ser)
c.4207G>A (p.Gly1403Ser)
c.2962G>A (p.Gly988Ser)
c.1585-2267C>T (n.1585-2267C>T)
 ClinVar gnomAD v4
21g.45505236G>CCA410499569COL18A1,SLC19A1c.3511G>C (p.Gly1171Arg)
c.2971G>C (p.Gly991Arg)
c.1012G>C (p.Gly338Arg)
c.4216G>C (p.Gly1406Arg)
c.498-6624C>G
c.1294-6624C>G (n.1294-6624C>G)
c.3502G>C (p.Gly1168Arg)
c.4207G>C (p.Gly1403Arg)
c.2962G>C (p.Gly988Arg)
c.1585-2267C>G (n.1585-2267C>G)
21g.45505236G>TCA410499570COL18A1,SLC19A1c.3511G>T (p.Gly1171Cys)
c.2971G>T (p.Gly991Cys)
c.1012G>T (p.Gly338Cys)
c.4216G>T (p.Gly1406Cys)
c.498-6624C>A
c.1294-6624C>A (n.1294-6624C>A)
c.3502G>T (p.Gly1168Cys)
c.4207G>T (p.Gly1403Cys)
c.2962G>T (p.Gly988Cys)
c.1585-2267C>A (n.1585-2267C>A)
21g.45505238_45505239insTCCCCCGGCCA2580098862COL18A1,SLC19A1c.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
21g.45505240_45505241insTCCCGGCCCCA2577626999COL18A1,SLC19A1c.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
21g.45505240_45505241insTCCCGGCCCCCCAGGCCCCCCCGGCCCCA2392191275COL18A1,SLC19A1c.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
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.45505237G>ACA410499571COL18A1,SLC19A1c.3512G>A (p.Gly1171Asp)
c.2972G>A (p.Gly991Asp)
c.1013G>A (p.Gly338Asp)
c.4217G>A (p.Gly1406Asp)
c.498-6625C>T
c.1294-6625C>T (n.1294-6625C>T)
c.3503G>A (p.Gly1168Asp)
c.4208G>A (p.Gly1403Asp)
c.2963G>A (p.Gly988Asp)
c.1585-2268C>T (n.1585-2268C>T)
 dbSNP gnomAD v4
21g.45505237G>CCA410499572COL18A1,SLC19A1c.3512G>C (p.Gly1171Ala)
c.2972G>C (p.Gly991Ala)
c.1013G>C (p.Gly338Ala)
c.4217G>C (p.Gly1406Ala)
c.498-6625C>G
c.1294-6625C>G (n.1294-6625C>G)
c.3503G>C (p.Gly1168Ala)
c.4208G>C (p.Gly1403Ala)
c.2963G>C (p.Gly988Ala)
c.1585-2268C>G (n.1585-2268C>G)
 dbSNP gnomAD v3 gnomAD v4
21g.45505237G=CA2392191276COL18A1,SLC19A1c.3512G= (p.Gly1171=)
c.2972G= (p.Gly991=)
c.1013G= (p.Gly338=)
c.4217G= (p.Gly1406=)
c.498-6625C=
c.1294-6625C= (n.1294-6625C=)
c.3503G= (p.Gly1168=)
c.4208G= (p.Gly1403=)
c.2963G= (p.Gly988=)
c.1585-2268C= (n.1585-2268C=)
21g.45505237G>TCA410499573COL18A1,SLC19A1c.3512G>T (p.Gly1171Val)
c.2972G>T (p.Gly991Val)
c.1013G>T (p.Gly338Val)
c.4217G>T (p.Gly1406Val)
c.498-6625C>A
c.1294-6625C>A (n.1294-6625C>A)
c.3503G>T (p.Gly1168Val)
c.4208G>T (p.Gly1403Val)
c.2963G>T (p.Gly988Val)
c.1585-2268C>A (n.1585-2268C>A)
 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.45505238C>ACA512687273COL18A1,SLC19A1c.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
21g.45505238C=CA2392191277COL18A1,SLC19A1c.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=)
21g.45505238C>GCA10067587COL18A1,SLC19A1c.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
21g.45505238C>TCA10067588COL18A1,SLC19A1c.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
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.45505239C>ACA410499575COL18A1,SLC19A1c.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)
21g.45505239C>GCA410499576COL18A1,SLC19A1c.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)
21g.45505239C>TCA410499574COL18A1,SLC19A1c.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
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.45505240C>ACA410499577COL18A1,SLC19A1c.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)
21g.45505240C=CA2392191279COL18A1,SLC19A1c.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=)
21g.45505240C>GCA410499578COL18A1,SLC19A1c.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)
21g.45505240C>TCA410499579COL18A1,SLC19A1c.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
21g.45505240_45505241insTGGGGGCA2654919427COL18A1,SLC19A1c.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
21g.45505241C>ACA512687275COL18A1,SLC19A1c.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)
21g.45505241C=CA2392191280COL18A1,SLC19A1c.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=)
21g.45505241C>GCA10067590COL18A1,SLC19A1c.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
21g.45505241C>TCA10067591COL18A1,SLC19A1c.3516C>T (p.Pro1172=)
c.2976C>T (p.Pro992=)
c.1017C>T (p.Pro339=)
c.4221C>T (p.Pro1407=)
c.498-6629G>A
c.1294-6629G>A (n.1294-6629G>A)
c.3507C>T (p.Pro1169=)
c.4212C>T (p.Pro1404=)
c.2967C>T (p.Pro989=)
c.1585-2272G>A (n.1585-2272G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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.45505242C>ACA410499581COL18A1,SLC19A1c.3517C>A (p.Pro1173Thr)
c.2977C>A (p.Pro993Thr)
c.1018C>A (p.Pro340Thr)
c.4222C>A (p.Pro1408Thr)
c.498-6630G>T
c.1294-6630G>T (n.1294-6630G>T)
c.3508C>A (p.Pro1170Thr)
c.4213C>A (p.Pro1405Thr)
c.2968C>A (p.Pro990Thr)
c.1585-2273G>T (n.1585-2273G>T)
21g.45505242C=CA2392191281COL18A1,SLC19A1c.3517C= (p.Pro1173=)
c.2977C= (p.Pro993=)
c.1018C= (p.Pro340=)
c.4222C= (p.Pro1408=)
c.498-6630G=
c.1294-6630G= (n.1294-6630G=)
c.3508C= (p.Pro1170=)
c.4213C= (p.Pro1405=)
c.2968C= (p.Pro990=)
c.1585-2273G= (n.1585-2273G=)
21g.45505242C>GCA410499580COL18A1,SLC19A1c.3517C>G (p.Pro1173Ala)
c.2977C>G (p.Pro993Ala)
c.1018C>G (p.Pro340Ala)
c.4222C>G (p.Pro1408Ala)
c.498-6630G>C
c.1294-6630G>C (n.1294-6630G>C)
c.3508C>G (p.Pro1170Ala)
c.4213C>G (p.Pro1405Ala)
c.2968C>G (p.Pro990Ala)
c.1585-2273G>C (n.1585-2273G>C)
21g.45505242C>TCA10067592COL18A1,SLC19A1c.3517C>T (p.Pro1173Ser)
c.2977C>T (p.Pro993Ser)
c.1018C>T (p.Pro340Ser)
c.4222C>T (p.Pro1408Ser)
c.498-6630G>A
c.1294-6630G>A (n.1294-6630G>A)
c.3508C>T (p.Pro1170Ser)
c.4213C>T (p.Pro1405Ser)
c.2968C>T (p.Pro990Ser)
c.1585-2273G>A (n.1585-2273G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
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=)
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)
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
21g.45505258T>GCA410499611COL18A1,SLC19A1c.3533T>G (p.Phe1178Cys)
c.2993T>G (p.Phe998Cys)
c.1034T>G (p.Phe345Cys)
c.4238T>G (p.Phe1413Cys)
c.498-6646A>C
c.1294-6646A>C (n.1294-6646A>C)
c.3524T>G (p.Phe1175Cys)
c.4229T>G (p.Phe1410Cys)
c.2984T>G (p.Phe995Cys)
c.1585-2289A>C (n.1585-2289A>C)
21g.45505259T>ACA410499612COL18A1,SLC19A1c.3534T>A (p.Phe1178Leu)
c.2994T>A (p.Phe998Leu)
c.1035T>A (p.Phe345Leu)
c.4239T>A (p.Phe1413Leu)
c.498-6647A>T
c.1294-6647A>T (n.1294-6647A>T)
c.3525T>A (p.Phe1175Leu)
c.4230T>A (p.Phe1410Leu)
c.2985T>A (p.Phe995Leu)
c.1585-2290A>T (n.1585-2290A>T)
21g.45505259T>CCA512687287COL18A1,SLC19A1c.3534T>C (p.Phe1178=)
c.2994T>C (p.Phe998=)
c.1035T>C (p.Phe345=)
c.4239T>C (p.Phe1413=)
c.498-6647A>G
c.1294-6647A>G (n.1294-6647A>G)
c.3525T>C (p.Phe1175=)
c.4230T>C (p.Phe1410=)
c.2985T>C (p.Phe995=)
c.1585-2290A>G (n.1585-2290A>G)
21g.45505259T>GCA410499613COL18A1,SLC19A1c.3534T>G (p.Phe1178Leu)
c.2994T>G (p.Phe998Leu)
c.1035T>G (p.Phe345Leu)
c.4239T>G (p.Phe1413Leu)
c.498-6647A>C
c.1294-6647A>C (n.1294-6647A>C)
c.3525T>G (p.Phe1175Leu)
c.4230T>G (p.Phe1410Leu)
c.2985T>G (p.Phe995Leu)
c.1585-2290A>C (n.1585-2290A>C)
21g.45505260C>ACA410499616COL18A1,SLC19A1c.3535C>A (p.Pro1179Thr)
c.2995C>A (p.Pro999Thr)
c.1036C>A (p.Pro346Thr)
c.4240C>A (p.Pro1414Thr)
c.498-6648G>T
c.1294-6648G>T (n.1294-6648G>T)
c.3526C>A (p.Pro1176Thr)
c.4231C>A (p.Pro1411Thr)
c.2986C>A (p.Pro996Thr)
c.1585-2291G>T (n.1585-2291G>T)
21g.45505260C=CA2392191295COL18A1,SLC19A1c.3535C= (p.Pro1179=)
c.2995C= (p.Pro999=)
c.1036C= (p.Pro346=)
c.4240C= (p.Pro1414=)
c.498-6648G=
c.1294-6648G= (n.1294-6648G=)
c.3526C= (p.Pro1176=)
c.4231C= (p.Pro1411=)
c.2986C= (p.Pro996=)
c.1585-2291G= (n.1585-2291G=)
21g.45505260C>GCA410499614COL18A1,SLC19A1c.3535C>G (p.Pro1179Ala)
c.2995C>G (p.Pro999Ala)
c.1036C>G (p.Pro346Ala)
c.4240C>G (p.Pro1414Ala)
c.498-6648G>C
c.1294-6648G>C (n.1294-6648G>C)
c.3526C>G (p.Pro1176Ala)
c.4231C>G (p.Pro1411Ala)
c.2986C>G (p.Pro996Ala)
c.1585-2291G>C (n.1585-2291G>C)
21g.45505260C>TCA410499615COL18A1,SLC19A1c.3535C>T (p.Pro1179Ser)
c.2995C>T (p.Pro999Ser)
c.1036C>T (p.Pro346Ser)
c.4240C>T (p.Pro1414Ser)
c.498-6648G>A
c.1294-6648G>A (n.1294-6648G>A)
c.3526C>T (p.Pro1176Ser)
c.4231C>T (p.Pro1411Ser)
c.2986C>T (p.Pro996Ser)
c.1585-2291G>A (n.1585-2291G>A)
 dbSNP gnomAD v2 gnomAD v4
21g.45505261C>ACA410499617COL18A1,SLC19A1c.3536C>A (p.Pro1179His)
c.2996C>A (p.Pro999His)
c.1037C>A (p.Pro346His)
c.4241C>A (p.Pro1414His)
c.498-6649G>T
c.1294-6649G>T (n.1294-6649G>T)
c.3527C>A (p.Pro1176His)
c.4232C>A (p.Pro1411His)
c.2987C>A (p.Pro996His)
c.1585-2292G>T (n.1585-2292G>T)
21g.45505261C=CA2392191296COL18A1,SLC19A1c.3536C= (p.Pro1179=)
c.2996C= (p.Pro999=)
c.1037C= (p.Pro346=)
c.4241C= (p.Pro1414=)
c.498-6649G=
c.1294-6649G= (n.1294-6649G=)
c.3527C= (p.Pro1176=)
c.4232C= (p.Pro1411=)
c.2987C= (p.Pro996=)
c.1585-2292G= (n.1585-2292G=)
21g.45505261C>GCA410499618COL18A1,SLC19A1c.3536C>G (p.Pro1179Arg)
c.2996C>G (p.Pro999Arg)
c.1037C>G (p.Pro346Arg)
c.4241C>G (p.Pro1414Arg)
c.498-6649G>C
c.1294-6649G>C (n.1294-6649G>C)
c.3527C>G (p.Pro1176Arg)
c.4232C>G (p.Pro1411Arg)
c.2987C>G (p.Pro996Arg)
c.1585-2292G>C (n.1585-2292G>C)
21g.45505261C>TCA10067598COL18A1,SLC19A1c.3536C>T (p.Pro1179Leu)
c.2996C>T (p.Pro999Leu)
c.1037C>T (p.Pro346Leu)
c.4241C>T (p.Pro1414Leu)
c.498-6649G>A
c.1294-6649G>A (n.1294-6649G>A)
c.3527C>T (p.Pro1176Leu)
c.4232C>T (p.Pro1411Leu)
c.2987C>T (p.Pro996Leu)
c.1585-2292G>A (n.1585-2292G>A)
 dbSNP ExAC gnomAD v4
21g.45505262T>ACA512687288COL18A1,SLC19A1c.3537T>A (p.Pro1179=)
c.2997T>A (p.Pro999=)
c.1038T>A (p.Pro346=)
c.4242T>A (p.Pro1414=)
c.498-6650A>T
c.1294-6650A>T (n.1294-6650A>T)
c.3528T>A (p.Pro1176=)
c.4233T>A (p.Pro1411=)
c.2988T>A (p.Pro996=)
c.1585-2293A>T (n.1585-2293A>T)
 dbSNP gnomAD v2 gnomAD v4
21g.45505262T>CCA10067599COL18A1,SLC19A1c.3537T>C (p.Pro1179=)
c.2997T>C (p.Pro999=)
c.1038T>C (p.Pro346=)
c.4242T>C (p.Pro1414=)
c.498-6650A>G
c.1294-6650A>G (n.1294-6650A>G)
c.3528T>C (p.Pro1176=)
c.4233T>C (p.Pro1411=)
c.2988T>C (p.Pro996=)
c.1585-2293A>G (n.1585-2293A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505262T>GCA512687289COL18A1,SLC19A1c.3537T>G (p.Pro1179=)
c.2997T>G (p.Pro999=)
c.1038T>G (p.Pro346=)
c.4242T>G (p.Pro1414=)
c.498-6650A>C
c.1294-6650A>C (n.1294-6650A>C)
c.3528T>G (p.Pro1176=)
c.4233T>G (p.Pro1411=)
c.2988T>G (p.Pro996=)
c.1585-2293A>C (n.1585-2293A>C)
 dbSNP gnomAD v3 gnomAD v4
21g.45505262T=CA2392191297COL18A1,SLC19A1c.3537T= (p.Pro1179=)
c.2997T= (p.Pro999=)
c.1038T= (p.Pro346=)
c.4242T= (p.Pro1414=)
c.498-6650A=
c.1294-6650A= (n.1294-6650A=)
c.3528T= (p.Pro1176=)
c.4233T= (p.Pro1411=)
c.2988T= (p.Pro996=)
c.1585-2293A= (n.1585-2293A=)
21g.45505263G>ACA410499619COL18A1,SLC19A1c.3538G>A (p.Gly1180Ser)
c.2998G>A (p.Gly1000Ser)
c.1039G>A (p.Gly347Ser)
c.4243G>A (p.Gly1415Ser)
c.498-6651C>T
c.1294-6651C>T (n.1294-6651C>T)
c.3529G>A (p.Gly1177Ser)
c.4234G>A (p.Gly1412Ser)
c.2989G>A (p.Gly997Ser)
c.1585-2294C>T (n.1585-2294C>T)
 gnomAD v4
21g.45505263G>CCA410499620COL18A1,SLC19A1c.3538G>C (p.Gly1180Arg)
c.2998G>C (p.Gly1000Arg)
c.1039G>C (p.Gly347Arg)
c.4243G>C (p.Gly1415Arg)
c.498-6651C>G
c.1294-6651C>G (n.1294-6651C>G)
c.3529G>C (p.Gly1177Arg)
c.4234G>C (p.Gly1412Arg)
c.2989G>C (p.Gly997Arg)
c.1585-2294C>G (n.1585-2294C>G)
21g.45505263G>TCA410499621COL18A1,SLC19A1c.3538G>T (p.Gly1180Cys)
c.2998G>T (p.Gly1000Cys)
c.1039G>T (p.Gly347Cys)
c.4243G>T (p.Gly1415Cys)
c.498-6651C>A
c.1294-6651C>A (n.1294-6651C>A)
c.3529G>T (p.Gly1177Cys)
c.4234G>T (p.Gly1412Cys)
c.2989G>T (p.Gly997Cys)
c.1585-2294C>A (n.1585-2294C>A)
21g.45505264G>ACA10067600COL18A1,SLC19A1c.3539G>A (p.Gly1180Asp)
c.2999G>A (p.Gly1000Asp)
c.1040G>A (p.Gly347Asp)
c.4244G>A (p.Gly1415Asp)
c.498-6652C>T
c.1294-6652C>T (n.1294-6652C>T)
c.3530G>A (p.Gly1177Asp)
c.4235G>A (p.Gly1412Asp)
c.2990G>A (p.Gly997Asp)
c.1585-2295C>T (n.1585-2295C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
21g.45505264G>CCA410499622COL18A1,SLC19A1c.3539G>C (p.Gly1180Ala)
c.2999G>C (p.Gly1000Ala)
c.1040G>C (p.Gly347Ala)
c.4244G>C (p.Gly1415Ala)
c.498-6652C>G
c.1294-6652C>G (n.1294-6652C>G)
c.3530G>C (p.Gly1177Ala)
c.4235G>C (p.Gly1412Ala)
c.2990G>C (p.Gly997Ala)
c.1585-2295C>G (n.1585-2295C>G)
21g.45505264G=CA2392191298COL18A1,SLC19A1c.3539G= (p.Gly1180=)
c.2999G= (p.Gly1000=)
c.1040G= (p.Gly347=)
c.4244G= (p.Gly1415=)
c.498-6652C=
c.1294-6652C= (n.1294-6652C=)
c.3530G= (p.Gly1177=)
c.4235G= (p.Gly1412=)
c.2990G= (p.Gly997=)
c.1585-2295C= (n.1585-2295C=)
21g.45505264G>TCA410499623COL18A1,SLC19A1c.3539G>T (p.Gly1180Val)
c.2999G>T (p.Gly1000Val)
c.1040G>T (p.Gly347Val)
c.4244G>T (p.Gly1415Val)
c.498-6652C>A
c.1294-6652C>A (n.1294-6652C>A)
c.3530G>T (p.Gly1177Val)
c.4235G>T (p.Gly1412Val)
c.2990G>T (p.Gly997Val)
c.1585-2295C>A (n.1585-2295C>A)
21g.45505265C>ACA512687290COL18A1,SLC19A1c.3540C>A (p.Gly1180=)
c.3000C>A (p.Gly1000=)
c.1041C>A (p.Gly347=)
c.4245C>A (p.Gly1415=)
c.498-6653G>T
c.1294-6653G>T (n.1294-6653G>T)
c.3531C>A (p.Gly1177=)
c.4236C>A (p.Gly1412=)
c.2991C>A (p.Gly997=)
c.1585-2296G>T (n.1585-2296G>T)
 gnomAD v4
21g.45505265C=CA2392191299COL18A1,SLC19A1c.3540C= (p.Gly1180=)
c.3000C= (p.Gly1000=)
c.1041C= (p.Gly347=)
c.4245C= (p.Gly1415=)
c.498-6653G=
c.1294-6653G= (n.1294-6653G=)
c.3531C= (p.Gly1177=)
c.4236C= (p.Gly1412=)
c.2991C= (p.Gly997=)
c.1585-2296G= (n.1585-2296G=)
21g.45505265C>GCA512687291COL18A1,SLC19A1c.3540C>G (p.Gly1180=)
c.3000C>G (p.Gly1000=)
c.1041C>G (p.Gly347=)
c.4245C>G (p.Gly1415=)
c.498-6653G>C
c.1294-6653G>C (n.1294-6653G>C)
c.3531C>G (p.Gly1177=)
c.4236C>G (p.Gly1412=)
c.2991C>G (p.Gly997=)
c.1585-2296G>C (n.1585-2296G>C)
21g.45505265C>TCA512687292COL18A1,SLC19A1c.3540C>T (p.Gly1180=)
c.3000C>T (p.Gly1000=)
c.1041C>T (p.Gly347=)
c.4245C>T (p.Gly1415=)
c.498-6653G>A
c.1294-6653G>A (n.1294-6653G>A)
c.3531C>T (p.Gly1177=)
c.4236C>T (p.Gly1412=)
c.2991C>T (p.Gly997=)
c.1585-2296G>A (n.1585-2296G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.45505266C>ACA410499626COL18A1,SLC19A1c.3541C>A (p.Pro1181Thr)
c.3001C>A (p.Pro1001Thr)
c.1042C>A (p.Pro348Thr)
c.4246C>A (p.Pro1416Thr)
c.498-6654G>T
c.1294-6654G>T (n.1294-6654G>T)
c.3532C>A (p.Pro1178Thr)
c.4237C>A (p.Pro1413Thr)
c.2992C>A (p.Pro998Thr)
c.1585-2297G>T (n.1585-2297G>T)
 gnomAD v4
21g.45505266C=CA2392191300COL18A1,SLC19A1c.3541C= (p.Pro1181=)
c.3001C= (p.Pro1001=)
c.1042C= (p.Pro348=)
c.4246C= (p.Pro1416=)
c.498-6654G=
c.1294-6654G= (n.1294-6654G=)
c.3532C= (p.Pro1178=)
c.4237C= (p.Pro1413=)
c.2992C= (p.Pro998=)
c.1585-2297G= (n.1585-2297G=)
21g.45505266C>GCA410499625COL18A1,SLC19A1c.3541C>G (p.Pro1181Ala)
c.3001C>G (p.Pro1001Ala)
c.1042C>G (p.Pro348Ala)
c.4246C>G (p.Pro1416Ala)
c.498-6654G>C
c.1294-6654G>C (n.1294-6654G>C)
c.3532C>G (p.Pro1178Ala)
c.4237C>G (p.Pro1413Ala)
c.2992C>G (p.Pro998Ala)
c.1585-2297G>C (n.1585-2297G>C)
21g.45505266C>TCA410499624COL18A1,SLC19A1c.3541C>T (p.Pro1181Ser)
c.3001C>T (p.Pro1001Ser)
c.1042C>T (p.Pro348Ser)
c.4246C>T (p.Pro1416Ser)
c.498-6654G>A
c.1294-6654G>A (n.1294-6654G>A)
c.3532C>T (p.Pro1178Ser)
c.4237C>T (p.Pro1413Ser)
c.2992C>T (p.Pro998Ser)
c.1585-2297G>A (n.1585-2297G>A)
 dbSNP gnomAD v3 gnomAD v4
21g.45505267C>ACA410499627COL18A1,SLC19A1c.3542C>A (p.Pro1181His)
c.3002C>A (p.Pro1001His)
c.1043C>A (p.Pro348His)
c.4247C>A (p.Pro1416His)
c.498-6655G>T
c.1294-6655G>T (n.1294-6655G>T)
c.3533C>A (p.Pro1178His)
c.4238C>A (p.Pro1413His)
c.2993C>A (p.Pro998His)
c.1585-2298G>T (n.1585-2298G>T)
21g.45505267C=CA2392191301COL18A1,SLC19A1c.3542C= (p.Pro1181=)
c.3002C= (p.Pro1001=)
c.1043C= (p.Pro348=)
c.4247C= (p.Pro1416=)
c.498-6655G=
c.1294-6655G= (n.1294-6655G=)
c.3533C= (p.Pro1178=)
c.4238C= (p.Pro1413=)
c.2993C= (p.Pro998=)
c.1585-2298G= (n.1585-2298G=)
21g.45505267C>GCA410499628COL18A1,SLC19A1c.3542C>G (p.Pro1181Arg)
c.3002C>G (p.Pro1001Arg)
c.1043C>G (p.Pro348Arg)
c.4247C>G (p.Pro1416Arg)
c.498-6655G>C
c.1294-6655G>C (n.1294-6655G>C)
c.3533C>G (p.Pro1178Arg)
c.4238C>G (p.Pro1413Arg)
c.2993C>G (p.Pro998Arg)
c.1585-2298G>C (n.1585-2298G>C)
21g.45505267C>TCA10067601COL18A1,SLC19A1c.3542C>T (p.Pro1181Leu)
c.3002C>T (p.Pro1001Leu)
c.1043C>T (p.Pro348Leu)
c.4247C>T (p.Pro1416Leu)
c.498-6655G>A
c.1294-6655G>A (n.1294-6655G>A)
c.3533C>T (p.Pro1178Leu)
c.4238C>T (p.Pro1413Leu)
c.2993C>T (p.Pro998Leu)
c.1585-2298G>A (n.1585-2298G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched